Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | Number of patients | |
---|---|---|---|---|---|---|---|---|---|---|
Variant info | Patients:1 | GAA and part of CCDC40 | Ch37/hg19:g.78,056,048_ 78,094,854delins14bp | r.(-212_*551del) | p.(0) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | CCDC40 and GAA exon 1 | Ch37/hg19 chr17:78,059,821_ 78,076,592del | r.0 | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 1A, 5' UTR | c.-338C>G | r.(-338c>g) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 1A, 5' UTR | c.-260G>C | r.(-260g>c) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 1A, 5' UTR | c.-178G>A | r.(-178g>a) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | intron 1A | c.-113+2T>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 1B, 5' UTR | c.-82G>C | r.(-82g>c) | p.? | Unknown | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 1B, 5' UTR | c.-75C>G | r.(-75c>g) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+219G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+316C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+317C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+671A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+757G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+903A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+1104A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+1172G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+1190G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-33+1309T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-1298G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-1124C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-884T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-793C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-721G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-686A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-640C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-521G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-494C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 1B | c.-32-462G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 1B | c.-32-17_-32-10delins(30) | r.? | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:733 | intron 1B | c.-32-13T>G | r.[=,-32_546del,-32_486del] | p.[=,0] | Potentially mild | Childhood or Adult | Positive | 733 | |
|
||||||||||
Variant info | Patients:2 | intron 1B | c.-32-3C>G | r.(=) | p.? | Less severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:14 | intron 1B | c.-32-3C>A | r.(=) | p.? | Less severe | Childhood | Unknown | 14 | |
|
||||||||||
Variant info | Patients:3 | intron 1B | c.-32-2A>G | r.spl | p.? | Very severe | Childhood or Adult | Unknown | 3 | |
|
||||||||||
Variant info | Patients:1 | intron 1B | c.-32-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.1A>T | r.(1a>u) | p.(0) | Potentially less severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:6 | exon 2 | c.1A>G | r.(1a>g) | p.(0) | Very severe | Classic infantile or Childhood | Negative | 6 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.2T>C | r.(2u>c) | p.(0) | Potentially less severe | Childhood | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.3G>A | r.(3g>a) | p.(0) | Very severe | Classic infantile or Childhood | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.18_25del | r.(18_25del) | p.(Cys8Profs*24) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.25del | r.(25del) | p.(Ser9Profs*34) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.40_47del | r.(40_47del) | p.(Ala14Argfs*18) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.32G>A | r.(32g>a) | p.(Arg11Gln) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.54C>T | r.(54c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.104T>C | r.(104u>c) | p.(Phe35Ser) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:18 | exon 2 | c.118C>T | r.(118c>u) | p.(Arg40*) | Very severe | Classic infantile | Negative | 18 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.136T>C | r.(136u>c) | p.(Ser46Pro) | Non-pathogenic | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 2 | c.147_859-12del | r.spl | p.? | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.169C>T | r.(169c>u) | p.(Gln57*) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 2 | c.172C>T | r.(172c>u) | p.(Gln58*) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.186_196dup | r.(186_196dup) | p.(Arg66Hisfs*80) | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.205C>T | r.(205c>u) | p.(Gln69*) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.199G>A | r.(199g>a) | p.(Asp67Asn) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.221G>A | r.(221g>a) | p.(Arg74His) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:13 | exon 2 | c.236_246del | r.(236_246del) | p.(Pro79Argfs*13) | Very severe | Classic infantile | Negative | 13 | |
|
||||||||||
Variant info | Patients:3 | exon 2 | c.241C>T | r.(241c>u) | p.(Gln81*) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:4 | exon 2 | c.258dup | r.(258dup) | p.(Asn87Glnfs*9) | Very severe | Unknown (disease-associated) | Negative | 4 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.258C>A | r.(258c>a) | p.? | Unknown | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.265C>T | r.(265c>u) | p.(Arg89Cys) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.266G>A | r.(266g>a) | p.(Arg89His) | Presumably non-pathogenic | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.271G>A | r.271g>a | p.(Asp91Asn) | Presumably non-pathogenic | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 2 | c.271del | r.(271del) | p.(Asp91Ilefs*51) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.295_314del | r.(295_314del) | p.(Thr99Profs*40) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.307T>C | r.(307u>c) | p.(Cys103Arg) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:19 | exon 2 | c.307T>G | r.(307u>g) | p.(Cys103Gly) | Potentially less severe | Classic infantile | Positive | 19 | |
|
||||||||||
Variant info | Patients: | exon 2 | c.309C>G | r.(309c>g) | p.(Cys103Trp) | Potentially less severe | Unknown | Positive | ||
|
||||||||||
Variant info | Patients:1 | exon 2 | c.309C>A | r.(309c>a) | p.(Cys103*) | Very severe | Classic infantile | Negative | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.317G>A | r.(317g>a) | p.(Arg106His) | potentially less severe | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 2 | c.322T>G | r.(322u>g) | p.(Cys108Gly) | Potentially less severe | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.323G>A | r.(323g>a) | p.(Cys108Ser) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.323G>C | r.(323g>c) | p.(Cys108Ser) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:0 | exon 2 | c.324T>C | r.324u>c | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.340_341insT | r.(340_341insu) | p.(Lys114Ilefs*32) | Very severe | Classic infantile | Negative | 2 | |
|
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Variant info | Patients:2 | exon 2 | c.343C>T | r.(343c>u) | p.(Gln115*) | Very severe | Childhood or Adult | Negative | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.352C>T | r.(352c>u) | p.(Gln118*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
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Variant info | Patients:0 | exon 2 | c.363G>A | r.(363g>a) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
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Variant info | Patients:4 | exon 2 | c.364A>G | r.(364a>g) | p.(Met122Val) | Less severe | Unknown (disease-associated) | Unknown | 4 | |
|
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Variant info | Patients:0 | exon 2 | c.365del | r.(365del) | p.(Met122Argfs*20) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 2 | c.365T>A | r.(365u>a) | p.(Met122Lys) | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
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Variant info | Patients:9 | exon 2 | c.377G>A | r.(377g>a) | p.(Trp126*) | Very severe | Classic infantile | Negative | 9 | |
|
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Variant info | Patients:1 | exon 2 | c.378G>A | r.(378g>a) | p.(Trp126*) | Very severe | Classic infantile | Negative | 1 | |
|
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Variant info | Patients:11 | exon 2 | c.379_380del | r.(379_380del) | p.(Cys127Leufs*18) | Very severe | Classic infantile | Negative | 11 | |
|
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Variant info | Patients:1 | exon 2 | c.380G>A | r.(380g>a) | p.(Cys127Tyr) | Potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.380G>T | r.(380g>u) | p.(Cys127Phe) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.397T>G | r.(397u>g) | p.(Tyr133Asp) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.399C>A | r.(399c>a) | p.(Tyr133*) | Very severe | Classic infantile | Negative | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.421C>A | r.(421c>a) | p.(Leu141Met) | Potentially less severe | Classic infantile | Positive | 1 | |
|
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Variant info | Patients:3 | exon 2 | c.424_440del | r.(424_440del) | p.(Ser142Lleufs*29) | Very severe | Unknown (found only in NBS) | Negative | 3 | |
|
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Variant info | Patients:2 | exon 2 | c.437del | r.(437del) | p.(Met146Argfs*7) | very severe | Classic infantile | Negative | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.444C>G | r.(444c>g) | p.(Tyr148*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.445A>C | r.(445a>c) | p.(Thr149Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:0 | exon 2 | c.447G>A | r.(447g>a) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
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Variant info | Patients:2 | exon 2 | c.460_465del | r.(460_465del) | p.(Arg154_Thr155del) | Unknown | Classic infantile | Positive | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.461G>C | r.(461g>c) | p.(Arg154Pro) | Less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.461_469del | r.(461_469del) | p.(Arg154_Thr156del) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:5 | exon 2 | c.482_483del | r.(482_483del) | p.(Pro161Glnfs*15) | Very severe | Unknown (disease-associated) | Negative | 5 | |
|
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Variant info | Patients:2 | exon 2 | c.483dup | r.(483dup) | p.(Lys162Glnfs*15) | Very severe | Classic infantile | Negative | 2 | |
|
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Variant info | Patients:2 | exon 2 | c.484A>C | r.(484a>c) | p.(Lys162Gln) | Potentially less severe | Classic infantile | Unknown | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.502C>T | r.(502c>u) | p.(Arg168Trp) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:3 | exon 2 | c.503G>A | r.(503g>a) | p.(Arg168Gln) | Unknown | Childhood | Unknown | 3 | |
|
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Variant info | Patients:2 | exon 2 | c.503G>C | r.(503g>c) | p.(Arg168Pro) | Unknown | Childhood | Positive | 2 | |
|
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Variant info | Patients:1 | exon 2 | c.505C>A | r.(505c>a) | p.(Leu169Met) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
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Variant info | Patients:1 | exon 2 | c.506T>C | r.(506u>c) | p.(Leu169Pro) | Unknown | Classic infantile | Positive | 1 | |
|
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Variant info | Patients:0 | exon 2 | c.510C>T | r.(510c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients: | exon 2 | c.517_519del | r.(517_519del) | p.(Met173del) | Potentially less severe | Childhood | Positive | ||
|
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Variant info | Patients:154 | exon 2 | c.525del | r.(525del) | p.(Glu176Argfs*45) | Very severe | Classic infantile | Negative | 154 | |
|
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Variant info | Patients:4 | exon 2 | c.525_526del | r.(525_526del) | p.(Asn177Profs*11) | Very severe | Classic infantile | Negative | 4 | |
|
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Variant info | Patients:0 | exon 2 | c.532C>T | r.(532c>u) | p.(Arg178Cys) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 2 | c.533G>A | r.(533g>a) | p.(Arg178His) | Unknown | Unknown (found only in NBS) | Positive | 2 | |
|
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Variant info | Patients:0 | exon 2 | c.541_545del | r.(541_545del) | p.(Phe181Aspfs*6) | very severe | Classic infantile | Unknown | 0 | |
|
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Variant info | Patients:3 | exon 2 | c.546G>A | r.[(546g>a), r.(spl?)] | p.[(=), p.?] | Potentially mild | Adult | Unknown | 3 | |
|
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Variant info | Patients:21 | exon 2 | c.546G>T | r.[-32_546del,546g>u,546g>u; 546_547ins546+1_546+184] | p.[=,0, Ile183Valfs*67] | Potentially mild | Childhood or Adult | Unknown | 21 | |
|
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Variant info | Patients:2 | exon 2 | c.546G>C | r.[(546g>c), r.(spl?)] | p.[(=), p.?] | Potentially mild | Unknown (disease-associated) | Unknown | 2 | |
|
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Variant info | Patients:3 | intron 2 | c.546+1G>T | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 3 | |
|
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Variant info | Patients:1 | intron 2 | c.546+2T>C | r.spl | p.? | Very severe | Classic infantile | Negative | 1 | |
|
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Variant info | Patients:5 | intron 2 | c.546+2_546+5del | r.spl | p.? | Very severe | Classic infantile | Negative | 5 | |
|
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Variant info | Patients:2 | intron 2 | c.546+5G>T | r.(spl?) | p.? | Unknown | Unknown (found only in NBS) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.546+24G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.546+45G>C | r.(=) | p.? | Unknown | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.546+293G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.547-243C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.547-238T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.547-67C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.547-39T>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 2 | c.547-4C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 2 | c.547-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.568C>T | r.(568c>u) | p.(Arg190Cys) | potentially less severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:6 | exon 3 | c.569G>A | r.(569g>a) | p.(Arg190His) | Less severe | Childhood | Positive | 6 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.572A>G | r.(572a>g) | p.(Tyr191Cys) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 3 | c.573C>A | r.(573c>a) | p.(Tyr191*) | Very severe | Classic infantile | Negative | 7 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.596A>G | r.(596a>g) | p.(His199Arg) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.623T>C | r.(623u>c) | p.(Leu208Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.634G>T | r.(634g>u) | p.(Glu212*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.642C>T | r.642c>u | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.650C>T | r.(650c>u) | p.(Pro217Leu) | Less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:22 | exon 3 | c.655G>A | r.(655g>a) | p.(Gly219Arg) | Potentially less severe | Classic infantile | Positive | 22 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.658G>T | r.(658g>u) | p.(Val220Leu) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:16 | exon 3 | c.664G>A | r.(664g>a) | p.(Val222Met) | Non-pathogenic | Unknown | Positive | 16 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.665T>G | r.(665u>g) | p.(Val222Gly) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.668G>A | r.668g>a | p.(Arg223His) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:7 | exon 3 | c.670C>T | r.(670c>u) | p.(Arg224Trp) | Less severe | Classic infantile or Childhood | Positive | 7 | |
|
||||||||||
Variant info | Patients:2 | exon 3 | c.671G>C | r.(671g>c) | p.(Arg224Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.671G>A | r.(671g>a) | p.(Arg224Gln) | Potentially less severe | Adult | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 3 | c.685_686insCGGC | r.(685_686inscggc) | p.(Arg229Profs*102) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.686G>C | r.(686g>c) | p.(Arg229Pro) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 3 | c.692T>C | r.(692u>c) | p.(Leu231Pro) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | intron 3 | c.692+1G>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 3 | c.692+1G>T | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 3 | c.692+1G>A | r.spl | p.? | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:3 | intron 3 | c.692+5G>T | r.(spl?) | p.? | Less severe | Childhood or adult | Unknown | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 3 | c.691C>T | r.(691c>u) | p.(Arg190Cys) | very severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.692+38C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.692+144A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.692+509T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.692+674G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.692+751T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-586G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-585T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-559C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-491G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-441C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-434C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-414C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-413A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-216T>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-94C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-78C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-49C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 3 | c.693-2A>C | r.spl | p.? | very severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 3 | c.693-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.701C>G | r.(701c>g) | p.(Thr234Arg) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.701C>A | r.(701c>a) | p.(Thr234Lys) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.705G>A | r.(705g>a) | p.(=) | Unknown | Unknown (found only in NBS) | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.710C>T | r.(710c>u) | p.(Ala237Val) | Unknown | Adult | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.715_716del | r.(715_716del) | p.(Leu239Valfs*90) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.716del | r.(716del) | p.(Leu239Argfs*29) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.719T>C | r.(719u>c) | p.(Phe240Ser) | Unknown | Adult | Positive | 2 | |
|
||||||||||
Variant info | Patients:6 | exon 4 | c.722_723del | r.(722_723del) | p.(Phe241Cysfs*88) | Very severe | Classic infantile | Negative | 6 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.725C>T | r.(725c>u) | p.(Ala242Val) | Potentially mild | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.730C>T | r.(730c>u) | p.(Gln244*) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.736del | r.(736del) | p.(Leu246Phefs*22) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.737T>G | r.(737u>g) | p.(Leu246Arg) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 4 | c.742del | r.(742del) | p.(Leu248Profs*20) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.743T>G | r.(743u>g) | p.(Leu248Arg) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.743T>C | r.(743u>c) | p.(Leu248Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:26 | exon 4 | c.[752C>T; c.761C>T] | r.[(752c>u); (761c>u)] | p.[(Ser251Leu); (Ser254Leu)] | Presumably non-pathogenic | Unknown (disease-associated) | Positive | 26 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.756_757insT | r.(756_757insu) | p.(Pro253Serfs*77) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.759del | r.(759del) | p.(Ser254Argfs*14) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.763C>T | r.(763c>u) | p.(Gln255*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.766_784del | r.(766_784del) | p.(Tyr256Serfs*6) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 4 | c.766_785delinsC | r.(766_785delinsc) | p.(Tyr256Argfs*6) | Very severe | Unknown (disease-associated) | Negative | 4 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.768dup | r.(768dup) | p.(Ile257Tyrfs*73) | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.776G>T | r.(776g>u) | p.(Gly259Val) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.781G>A | r.(781g>a) | p.(Ala261Thr) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:22 | exon 4 | c.784G>A | r.(784g>a) | p.(Glu262Lys) | Potentially less severe | Classic infantile | Positive | 22 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.784G>C | r.(784g>c) | p.(Glu262Gln) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 4 | c.794del | r.(794del) | p.(Ser265Ilefs*3) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:10 | exon 4 | c.796C>T | r.(796c>u) | p.(Pro266Ser) | Potentially mild | Classic infantile | Positive | 10 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.796C>A | r.(796c>a) | p.(Pro266Thr) | Potentially less severe | Childhood | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.799_803delinsA | r.(799_803delinsa) | p.(Leu267Serfs*46) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.811A>G | r.(811a>g) | p.(Thr271Ala) | Non-pathogenic | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.827_845del | r.(827_845del) | p.(Ile276Thrfs*32) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.829_851del | r.(829_851del) | p.(Thr277Alafs*45) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.836G>A | r.(836g>a) | p.(Trp279*) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.837G>C | r.(837g>c) | p.(Trp279Cys) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.841C>T | r.(841c>u) | p.(Arg281Trp) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 4 | c.844G>C | r.(844g>c) | p.(Asp282His) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 4 | c.852G>A | r.(852g>a) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | exon 4 | c.853C>T | r.(853c>u) | p.(Pro285Ser) | Less severe | Childhood or Adult | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 4 | c.854C>G | r.(854c>g) | p.(Pro285Arg) | Potentially mild | Childhood | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 4 | c.858+2T>A | r.spl | p.? | Very severe | Classic infantile or Childhood | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+5_858+6ins7 | r.(spl?) | p.? | Unknown | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+6G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+17_858+23del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+20dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+21C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+17_858+23dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+30T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 4 | c.858+37C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 4 | c.859-2A>T | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.861C>T | r.(861c>u) | p.(=) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.868A>G | r.(868a>g) | p.(Asn290Asp) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.871C>T | r.(871c>u) | p.(Leu291Phe) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.872T>A | r.(872u>a) | p.(Leu291His) | Less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | exon 5 | c.872T>C | r.(872u>c) | p.(Leu291Pro) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:6 | exon 5 | c.875A>G | r.(875a>g) | p.(Tyr292Cys) | Potentially mild | Classic infantile | Positive | 6 | |
|
||||||||||
Variant info | Patients:2 | exon 5 | c.876C>G | r.(876c>g) | p.(Tyr292*) | very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:14 | exon 5 | c.877G>A | r.(877g>a) | p.(Gly293Arg) | Potentially less severe | Classic infantile | Positive | 14 | |
|
||||||||||
Variant info | Patients:2 | exon 5 | c.878G>T | r.(878g>u) | p.(Gly293Val) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.883C>A | r.(883c>a) | p.(His295Asn) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.885C>G | r.(885c>g) | p.(His295Gln) | Potentially mild | Adult | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.893A>C | r.(893a>c) | p.(Tyr298Ser) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.896T>G | r.(896u>g) | p.(Leu299Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:11 | exon 5 | c.896T>C | r.(896u>c) | p.(Leu299Pro) | Potentially less severe | Classic infantile | Positive | 11 | |
|
||||||||||
Variant info | Patients:2 | exon 5 | c.915G>A | r.(915g>a) | p.(=) | Non-pathogenic | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.917C>T | r.(917c>u) | p.(Ser306Leu) | Presumably non-pathogenic | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.921A>T | r.921a>u | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | exon 5 | c.923A>C | r.(923a>c) | p.(His308Pro) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 5 | c.923A>T | r.(923a>u) | p.(His308Leu) | Less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:27 | exon 5 | c.925G>A | r.(925g>a) | p.(Gly309Arg) | Potentially less severe | Classic infantile | Positive | 27 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.929T>G | r.(929u>g) | p.(Val310Gly) | Less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.930_932del | r.(930_932del) | p.(Phe311del) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.935T>G | r.(935u>g) | p.(Leu312Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients: | exon 5 | c.942C>A | r.(942c>a) | p.Asn314Lys | Potentially less severe | Unknown (disease-associated) | Positive | ||
|
||||||||||
Variant info | Patients:0 | exon 5 | c.947A>T | r.(947a>u) | p.(Asn316Ile) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 5 | c.947A>G | r.(947a>g) | p.(Asn316Ser) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.950C>T | r.(950c>u) | p.(Ala317Val) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 5 | c.953T>C | r.(953u>c) | p.(Met318Thr) | Potentially less severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.953T>A | r.(953u>a) | p.(Met318Lys) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 5 | c.955_955+1ins21 | r.[(955_956ins21), (spl?)] | p.? | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | intron 5 | c.955+1G>A | r.spl | p.? | very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 5 | c.955+155C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 5 | c.955+167C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 5 | c.956-107G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 5 | c.955+2T>G | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 5 | c.955+12G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 5 | c.956-84C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.971C>T | r.(971c>u) | p.(Pro324Leu) | Less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.971dup | r.(971dup) | p.(Pro324Argfs*68) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 6 | c.982_988del | r.(982_988del) | p.(Leu328Glyfs*62) | very severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.983T>C | r.(983u>c) | p.(Leu328Pro) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.988T>G | r.(988u>g) | p.(Trp330Gly) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 6 | c.989G>A | r.(989g>a) | p.(Trp330*) | Very severe | Unknown (disease-associated) | Negative | 4 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.994_995insTT | r.(994_995insuu) | p.(Ser332Phefs*61) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.998C>A | r.(998c>a) | p.(Thr333Lys) | Unknown | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1000G>A | r.(1000g>a) | p.(Gly334Ser) | Unknown | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 6 | c.1000G>T | r.(1000g>u) | p.(Gly334Ser) | potentially less severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:7 | exon 6 | c.1003G>A | r.(1003g>a) | p.(Gly335Arg) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:2 | exon 6 | c.1004G>A | r.(1004g>a ) | p.(Gly335Glu) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1004_1005dup | r.(1004_1005dup) | p.(Ile336Glyfs*57) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1040C>G | r.(1040c>g) | p.(Pro347Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:6 | exon 6 | c.1047del | r.(1047del) | p.(Ser349Argfs*43) | very severe | Unknown (disease-associated) | Negative | 6 | |
|
||||||||||
Variant info | Patients:2 | exon 6 | c.1048G>A | r.(1048g>a) | p.(Val350Met) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:5 | exon 6 | c.1051del | r.(1051del) | p.(Val351Cysfs*41) | Very severe | Unknown (disease-associated) | Negative | 5 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1054C>T | r.(1054c>u) | p.(Gln352*) | very severe | Unknown (found only in NBS) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 6 | c.1057C>T | r.(1057c>u) | p.(Gln353*) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1057del | r.(1057del) | p.(Gln353Serfs*39) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 6 | c.1062C>G | r.(1062c>g) | p.(Tyr354*) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:19 | exon 6 | c.1064T>C | r.(1064u>c) | p.(Leu355Pro) | Potentially less severe | Classic infantile or Childhood | Positive | 19 | |
|
||||||||||
Variant info | Patients:1 | exon 6 | c.1075G>A | r.[1075g>a, 1072_1075del] | p.[(Gly359Arg), (Val358Aspfs*33)] | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 6 | c.1075G>T | r.[(1075g>u), r.(spl?)] | p.[(Ily359*), p.?] | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:0 | intron 6 | c.1075+13C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:10 | intron 6 | c.1076-22T>G | r.(spl?) | p.? | Potentially mild | Childhood | Unknown | 10 | |
|
||||||||||
Variant info | Patients:1 | intron 6 | c.1076-1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:8 | intron 6 | c.1076-1G>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 8 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1080C>G | r.(1080c>g) | p.(Tyr360*) | Very severe | Unknown (found only in NBS) | Negative | 1 | |
|
||||||||||
Variant info | Patients:12 | exon 7 | c.1082C>T | r.(1082c>u) | p.(Pro361Leu) | Potentially less severe | Classic infantile | Positive | 12 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1082C>A | r.(1082c>a) | p.(Pro361Arg) | potentially less severe | Unknown (found only in NBS) | Positive | 2 | |
|
||||||||||
Variant info | Patients:4 | exon 7 | c.1099T>C | r.(1099u>c) | p.(Trp367Arg) | Potentially less severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1099T>G | r.(1099u>g) | p.(Trp367Gly) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1100G>A | r.(1100g>a) | p.(Trp367*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1101G>A | r.(1101g>a) | p.(Trp367*) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1106T>C | r.(1106u>c) | p.(Leu369Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 7 | c.1106T>A | r.(1106u>a) | p.(Leu369Gln) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1108G>A | r.(1108g>a) | p.(Gly370Ser) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1109G>A | r.(1109g>a) | p.(Gly370Asp) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1114C>G | r.(1114c>g) | p.(His372Asp) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1114C>T | r.(1114c>u) | p.(His372Tyr) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 7 | c.1115A>T | r.(1115a>u) | p.(His372Leu) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1118T>G | r.(1118u>g ) | p.(Leu373Arg) | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1120T>C | r.(1120u>c) | p.(Cys374Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1121G>A | r.(1121g>a) | p.(Cys374Tyr) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:14 | exon 7 | c.1124G>T | r.(1124g>u) | p.(Arg375Leu) | Potentially less severe | Classic infantile | Positive | 14 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1124G>A | r.(1124g>a) | p.(Arg375His) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1127_1130del | r.(1127_1130del) | p.(Trp376Serfs*15) | very severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 7 | c.1128_1129delinsC | r.(1128_1129delinsc) | p.(Trp376Cysfs*16) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1129G>C | r.(1129g>c) | p.(Gly377Arg) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 7 | c.1129G>A | r.(1129g>a) | p.(Gly377Ser) | Potentially less severe | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1134C>G | r.(1134c>g) | p.(Tyr378*) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:8 | exon 7 | c.1143del | r.(1143del) | p.(Ala382Leufs*10) | Very severe | Unknown (disease-associated) | Negative | 8 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1153del | r.(1153del) | p.(Arg385Alafs*7) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1156C>T | r.(1156c>u) | p.(Gln386*) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1157dup | r.(1157dup) | p.(Val387Glyfs*119) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1165del | r.(1165del) | p.(Glu389Argfs*3) | Very severe | Classic infantile or Childhood | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1171A>G | r.(1171a>g) | p.(Met391Val) | Presumably non-pathogenic | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 7 | c.1190C>T | r.(1190c>u) | p.(Pro397Leu) | Less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1192dup | r.(1192dup) | p.(Leu398Profs*108) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1192del | r.(1192del) | p.(Leu398Trpfs*42) | very severe | Unknown (disease-associated) | 1 | ||
|
||||||||||
Variant info | Patients:1 | exon 7 | c.1193del | r.(1193del) | p.(Leu398Argfs*42) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 7 | c.1194+2T>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 7 | c.1194+2T>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 7 | c.1194+5G>A | r.(spl?) | p.? | less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 7 | c.1195-44C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 7 | c.1195-19_2190-20del | r.spl | p.? | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 7 | c.1195-15G>A | r.(=) | p.? | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | intron 7 | c.1195-8G>A | r.(spl?) | p.? | Unknown | Childhood or Adult | Unknown | 2 | |
|
||||||||||
Variant info | Patients:3 | intron 7 | c.1195-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | 3 | |
|
||||||||||
Variant info | Patients:3 | exon 8 | c.1199_1210del | r.(1199_1210del) | p.(Val400_Asn403del) | Very severe | Classic infantile | Unknown | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1201C>A | r.(1201c>a) | p.(Gln401Lys) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1202A>G | r.(1202a>g) | p.(Gln401Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1203G>A | r.1203g>a | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1204T>C | r.(1204u>c) | p.(Trp402Arg) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1209C>G | r.(1209c>g) | p.(Asn403Lys) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1209C>A | r.(1209c>a) | p.(Asn403Lys) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 8 | c.1209del | r.(1209del) | p.(Asn403Lysfs*37) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:4 | exon 8 | c.1210G>A | r.(1210g>a) | p.(Asp404Asn) | Potentially less severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1211A>G | r.(1211a>g) | p.(Asp404Gly) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1211A>C | r.(1211a>c) | p.(Asp404Ala) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1211A>T | r.(1211a>u) | p.(Asp404Val) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1212C>G | r.(1212c>g) | p.(Asp404Glu) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1214T>C | r.(1214u>c) | p.(Leu405Pro) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 8 | c.1216G>A | r.(1216g>a) | p.(Asp406Asn) | potentially less severe | Childhood | Positive | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1219T>C | r.(1219u>c) | p.(Tyr407His) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1220A>G | r.(1220a>g) | p.(Tyr407Cys) | potentially less severe | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1221C>A | r.(1221c>a) | p.(Tyr407*) | very severe | Classic infantile | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1221del | r.1221del | p.(Tyr407*) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 8 | c.1222A>G | r.(1222a>g) | p.(Met408Val) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1226_1227insG | r.(1226_1227insg) | p.(Asp409Glufs*97) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1229C>T | r.(1229c>u) | p.(Ser410Phe) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1231del | r.(1231del) | p.(Arg411Glyfs*29) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1239C>G | r.(1239c>g) | p.(Asp413Glu) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1240T>C | r.(1240u>c) | p.(Phe414Leu) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1241del | r.(1241del) | p.(Phe414Serfs*26) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1242C>A | r.(1242c>a) | p.(Phe414Leu) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1244C>T | r.(1244c>u) | p.(Thr415Met) | potentially less severe | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1249A>C | r.(1249a>c) | p.(Asn417His) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1256A>T | r.1256a>u | p.(Asp419Val) | Potentially mild | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1280T>C | r.(1280u>c) | p.(Met427Thr) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1281G>T | r.(1281g>u) | p.(Met427Ile) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1286A>G | r.(1286a>g) | p.(Gln429Arg) | Unknown | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1291_1299del | r.(1291_1299del) | p.(Leu431_Gln433del) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1292_1295dup | r.(1292_1295dup) | p.(Gln433Alafs*74) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1293_1326+57del | r.? | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1293_1312del | r.(1293_1312del) | p.(Gln433Aspfs*66) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1297C>A | r.(1297c>a) | p.(Gln433Lys) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1298A>C | r.(1298a>c) | p.(Gln433Pro) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:21 | exon 8 | c.1309C>T | r.(1309c>u) | p.(Arg437Cys) | Less severe | Childhood | Positive | 21 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1310G>A | r.(1310g>a) | p.(Arg437His) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 8 | c.1311_1312ins(26) | r.spl | p.? | very severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:14 | exon 8 | c.1316T>A | r.(1316u>a) | p.(Met439Lys) | Potentially mild | Classic infantile | Positive | 14 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1320_1322del | r.(1320_1322del) | p.(Met440del) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 8 | c.1322_1326+9del | r.spl | p.? | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 8 | c.1324G>A | r.(1324g>a) | p.(Val442Met) | Unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | intron 8 | c.1326+1G>A | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1326+5G>A | r.(spl?) | p.? | Unknown | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1326+132G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1326+459C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1326+460G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-514G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-356G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-321del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-269A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-209C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-179G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-118A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 8 | c.1327-54_1437+178del | r.1327_1437del | p.? | very severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 8 | c.1327-18A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | intron 8 | c.1327-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | 3 | |
|
||||||||||
Variant info | Patients:1 | intron 8 | c.1327-2A>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1331C>G | r.(1331c>g) | p.(Pro444Arg) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1333G>C | r.(1333g>c) | p.(Ala445Pro) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1354_1372del | r.(1354_1372del) | p.(Ala452Thrfs*19) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 9 | c.1356del | r.(1356del) | p.(Ser454Alafs*23) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1358_1361del | r.(1358_1361del) | p.(Gly453Alafs*23) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1364A>C | r.(1364a>c) | p.(Tyr455Cys) | Unknown | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1364A>T | r.(1364a>u) | p.(Tyr455Phe) | Less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1370C>T | r.(1370c>u) | p.(Pro457Leu) | Potentially mild | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 9 | c.1370C>A | r.(1370c>a) | p.(Pro457His) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1371del | r.(1371del) | p.(Tyr458Thrfs*19) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 9 | c.1373A>G | r.(1373a>g) | p.(Tyr458Cys) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 9 | c.1374C>T | r.1374c>u | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | exon 9 | c.1375G>A | r.(1375g>a) | p.(Asp459Asn) | Unknown | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1377_1379del | r.(1377_1379del) | p.(Asp459del) | Very severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1378G>T | r.(1378g>u) | p.(Glu460*) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 9 | c.1381G>A | r.(1381g>a) | p.(Gly461Ser) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1385T>C | r.(1385u>c) | p.(Leu462Pro) | Unknown | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1388_1406del | r.(1388_1406del) | p.(Arg463Profs*8) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:5 | exon 9 | c.1396del | r.(1396del) | p.(Val466Phefs*11) | Very severe | Classic infantile | Negative | 5 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1396dup | r.(1396dup) | p.(Val466Glyfs*40) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1396G>T | r.(1396g>u) | p.(Val466Phe) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1397T>G | r.(1397u>g) | p.(Val466Gly) | Unknown | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1402A>T | r.(1402a>u) | p.(Ile468Phe) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 9 | c.1408_1410del | r.(1408_1410del) | p.(Asn470del) | Unknown | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1409A>G | r.(1409a>g) | p.(Asn470Ser) | potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1409A>C | r.(1409a>c) | p.(Asn470Thr) | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:18 | exon 9 | c.1411_1414del | r.(1411_1414del) | p.(Glu471Profs*5) | Very severe | Classic infantile | Negative | 18 | |
|
||||||||||
Variant info | Patients:1 | exon 9 | c.1431del | r.(1431del) | p.(Ile477Metfs*43) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 9 | c.1432G>A | r.(1432g>a) | p.(Gly478Arg) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 9 | c.1437G>C | r.[(1437g>c), r.(spl?)] | p.[(Lys479Asn), p.(?)] | Potentially less severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:5 | exon 9 | c.1437G>A | r.[1437g>a, 1327_1437del] | p.[(=), (Asp443_Lys479del)] | Less severe | Unknown (disease-associated) | Positive | 5 | |
|
||||||||||
Variant info | Patients:1 | intron 9 | c.1437+1G>A | r.spl | p.? | Very severe | Classic infantile or Childhood | Unknown | 1 | |
|
||||||||||
Variant info | Patients:6 | intron 9 | c.1437+2T>C | r.1327_1437del | p.(Asp443_Lys479del) | Very severe | Classic infantile | Unknown | 6 | |
|
||||||||||
Variant info | Patients:0 | intron 9 | c.1438-220A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 9 | c.1438-108G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 9 | c.1437+4G>C | r.(spl?) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 9 | c.1438-19G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 9 | c.1438-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:2 | intron 9 | c.1438-1G>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 9 | c.1438-1G>T | r.spl | p.? | Very severe | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1441del | r.(1441del) | p.(Trp481Glyfs*39) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 10 | c.1441T>C | r.(1441u>c) | p.(Trp481Arg) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1442G>A | r.(1442g>a) | p.(Trp481*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1445C>T | r.(1445c>u) | p.(Pro482Leu) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 10 | c.1445C>G | r.(1445c>g) | p.(Pro482Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1446del | r.(1446del) | p.(Ser484Profs*36) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:7 | exon 10 | c.1447G>A | r.(1447g>a) | p.(Gly483Arg) | Less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1447G>T | r.(1447g>u) | p.(Gly483Trp) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1448G>T | r.(1448g>u) | p.(Gly483Val) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 10 | c.1456G>C | r.(1456g>c) | p.(Ala486Pro) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1456G>T | r.(1456g>u) | p.(Ala486Ser) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1456_1468del | r.(1456_1468del) | p.(Ala486Serfs*30) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1460T>C | r.(1460u>c) | p.(Phe487Ser) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1464dup | r.1464dup | p.(Asp489Argfs*17) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:8 | exon 10 | c.1465G>A | r.(1465g>a) | p.(Asp489Asn) | Potentially less severe | Classic infantile | Positive | 8 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1465G>T | r.(1465g>u) | p.(Asp489Tyr) | Unknown | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1466A>G | r.(1466a>g) | p.(Asp489Gly) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1468T>C | r.(1468u>c) | p.(Phe490Leu) | Less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1470C>A | r.(1470c>a) | p.(Phe490Leu) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1477C>T | r.(1477c>u) | p.(Pro493Ser) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 10 | c.1478C>T | r.(1478c>u) | p.(Pro493Leu) | Unknown | Adult | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1493G>A | r.(1493g>a) | p.(Trp498*) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 10 | c.1495T>A | r.(1495u>a) | p.(Trp499Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 10 | c.1496G>A | r.(1496g>a) | p.(Trp499*) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 10 | c.1497G>A | r.(1497g>a) | p.(Trp499*) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1501_1515del | r.(1501_1515del) | p.(Asp501_Glu505del) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1504A>G | r.(1504a>g) | p.(Met502Val) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1507del | r.(1507del) | p.(Val503Trpfs*17) | very severe | Classic infantile | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1509_1511del | r.(1509_1511del) | p.(Ala504del) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 10 | c.1526A>T | r.(1526a>u) | p.(Gln509Leu) | potentially less severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients: | exon 10 | c.1531C>A | r.(1531c>a) | p.(Pro511Thr) | Potentially less severe | Unknown (disease-associated) | Unknown | ||
|
||||||||||
Variant info | Patients:0 | exon 10 | c.1537G>A | r.(1537g>a) | p.(Asp513Asn) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1538A>G | r.(1538a>g) | p.(Asp513Gly) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1540G>C | r.(1540g>c) | p.(Gly514Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 10 | c.1544T>A | r.(1544u>a) | p.(Met515Lys) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:23 | exon 10 | c.1548G>A | r.(1548g>a) | p.(Trp516*) | Very severe | Classic infantile | Negative | 23 | |
|
||||||||||
Variant info | Patients:5 | intron 10 | c.1551+1G>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 5 | |
|
||||||||||
Variant info | Patients:5 | intron 10 | c.1551+1G>T | r.[=,1438_1551del] | p.[(=),(Val480_Ile517del)] | Potentially less severe | Unknown (disease-associated) | Positive | 5 | |
|
||||||||||
Variant info | Patients:2 | intron 10 | c.1551+1G>A | r.[=,1438_1551del] | p.[(=),(Val480_Ile517del)] | Very severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | intron 10 | c.1551+2T>G | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 10 | c.1551+3_1551+6del | r.(spl?) | p.? | Potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 10 | c.1551+3A>T | r.(spl?) | p.? | potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 10 | c.1551+5G>A | r.(spl?) | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 10 | c.1551+42G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 10 | c.1551+49C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 10 | c.1551+49C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 10 | c.1552-3C>G | r.[=,1551ins30, 1551ins100] | p.[(=), (Val480_Ile517del), (Ile517_Asp518insSerHisLeuProAlaAlaLeuLeuLeuGln)] | Potentially mild | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1555A>G | r.(1555a>g) | p.(Met519Val) | Less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 11 | c.1556T>C | r.(1556u>c) | p.(Met519Thr) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1559A>G | r.(1559a>g) | p.(Asn520Ser) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1560C>G | r.(1560c>g) | p.(Asn520Lys) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1561G>C | r.(1561g>c) | p.(Glu521Gln) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 11 | c.1561G>A | r.(1561g>a) | p.(Glu521Lys) | Potentially less severe | Classic infantile or Childhood | Positive | 7 | |
|
||||||||||
Variant info | Patients:4 | exon 11 | c.1562A>T | r.(1562a>u) | p.(Glu521Val) | Unknown | Classic infantile | Unknown | 4 | |
|
||||||||||
Variant info | Patients:7 | exon 11 | c.1564C>G | r.(1564c>g) | p.(Pro522Ala) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1564C>A | r.(1564c>a) | p.(Pro522Thr) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1564C>T | r.(1564c>u) | p.(Pro522Ser) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1568C>A | r.(1568c>a) | p.(Ser523Tyr) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 11 | c.1574T>A | r.(1574u>a) | p.(Phe525Tyr) | Potentially mild | Unknown (found only in NBS) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1579_1580del | r.(1579_1580del) | p.(Arg527Glyfs*3) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1581G>A | r.1581g>a | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1582_1583del | r.(1582_1583del) | p.(Gly528Leufs*2) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1583G>C | r.(1583g>c) | p.(Gly528Ala) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 11 | c.1585_1586delinsGT | r.(1585_1586delinsGU) | p.(Ser529Val) | Potentially mild | Adult | Positive | 4 | |
|
||||||||||
Variant info | Patients:3 | exon 11 | c.1591dup | r.(1591dup) | p.(Asp531Glyfs*7) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1594G>A | r.(1594g>a) | p.(Gly532Ser) | potentially less severe | Adult | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1597T>G | r.(1597u>g) | p.(Cys533Gly) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1602_1605delinsAGG | r.(1602_1605delinsagg) | p.(Asn535Glyfs*43) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1610del | r.(1610del) | p.(Glu537Glyfs*41) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1626C>G | r.(1626c>g) | p.(=) | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1627T>G | r.(1627u>g) | p.(Tyr543Asp) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 11 | c.1629C>G | r.(1629c>g) | p.(Tyr543*) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 11 | c.1634C>T | r.(1634c>u) | p.(Pro545Leu) | Less severe | Childhood or Adult | Unknown | 7 | |
|
||||||||||
Variant info | Patients:0 | exon 11 | c.1636G>C | r.(1636g>c) | p.(Gly546Arg) | Very severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:6 | intron 11 | c.1636+1G>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 6 | |
|
||||||||||
Variant info | Patients:1 | intron 11 | c.1636+5G>T | r.(spl?) | p.? | Potentially mild | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 11 | c.1636+5G>A | r.(spl?) | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 11 | c.1636+5G>C | r.(1636_1637ins957 | p.(Gly546fs*145) | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+43G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+117del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+117C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+118G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+205C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+210G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+269C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+284G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+389C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+390A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1636+404A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 11 | c.1637-185A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 11 | c.1637-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 12 | c.1642G>T | r.(1642g>u) | p.(Val548Phe) | Unknown | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1645G>A | r.(1645g>a) | p.(Gly549Arg) | Potentially mild | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1645G>C | r.(1645g>c) | p.(Gly549Arg) | Potentially mild | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 12 | c.1650dup | r.(1650dup) | p.(Thr551Aspfs*85) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:4 | exon 12 | c.1650del | r.(1650del) | p.(Thr551Profs*27) | very severe | Unknown (disease-associated) | Negative | 4 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1654del | r.(1654del) | p.(Leu552Serfs*26) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:42 | exon 12 | c.1655T>C | r.(1655u>c) | p.(Leu552Pro) | Potentially less severe | Classic infantile | Positive | 42 | |
|
||||||||||
Variant info | Patients:6 | exon 12 | c.1657C>T | r.(1657c>u) | p.(Gln553*) | very severe | Classic infantile | Negative | 6 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1666A>G | r.(1666a>g) | p.(Thr556Ala) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:4 | exon 12 | c.1669A>T | r.(1669a>u) | p.(Ile557Phe) | Very severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1670T>G | r.(1670u>g) | p.(Ile557Ser) | very severe | Unknown | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 12 | c.1672T>A | r.(1672u>a) | p.(Cys558Ser) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1673G>C | r.(1673g>c) | p.(Cys558Ser) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1681_1699dup | r.(1681_1699dup) | p.(Thr567Lysfs*75) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 12 | c.1687C>T | r.(1687c>u) | p.(Gln563*) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1688A>T | r.(1688a>u) | p.(Gln563Leu) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:4 | exon 12 | c.1694_1697del | r.(1694_1697del) | p.(Leu565Profs*12) | Very severe | Unknown (disease-associated) | Negative | 4 | |
|
||||||||||
Variant info | Patients:7 | exon 12 | c.1696T>C | r.(1696u>c) | p.(Ser566Pro) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1703A>T | r.(1703a>u) | p.(His568Leu) | Less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1704C>G | r.(1704c>g) | p.(His568Gln) | Unknown | Adult | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1705dup | r.(1705dup) | p.(tyr569Leufs*67) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1710C>G | r.(1710c>g) | p.(Asn570Lys) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1716C>G | r.(1716c>g) | p.(His572Gln) | Potentially less severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1716C>A | r.(1716c>a) | p.(His572Gln) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 12 | c.1717A>C | r.(1717a>c) | p.(Asn573His) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 12 | c.1719C>A | r.(1719c>a) | p.(Asn573Lys) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1721T>C | r.(1721u>c) | p.(Leu574Pro) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1724A>C | r.(1724a>c) | p.(Tyr575Ser) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 12 | c.1724A>G | r.(1724a>g) | p.(Tyr575Cys) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1725C>A | r.(1725c>a) | p.(Tyr575*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 12 | c.1726G>A | r.1726g>a | p.(Gly576Ser) | Presumably non-pathogenic | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients: | exon 12 | c.1726G>C | r.(1726g>c) | p.(Gly576Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
|
||||||||||
Variant info | Patients:0 | exon 12 | c.1727G>A | r.(1727g>a) | p.(Gly576Asp) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:5 | exon 12 | c.1735G>A | r.(1735g>a) | p.(Glu579Lys) | Potentially less severe | Classic infantile | Positive | 5 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1748C>T | r.(1748c>u) | p.(Ser583Phe) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1753_2799del | r.(1753_2799del) | p.(Arg586_Lys933del) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1754G>T | r.[(1754g>u), r.(spl?)] | p.[(Arg585Met), p.?] | Less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 12 | c.1754G>A | r.[(1754g>a), r.(spl?)] | p.[(Arg585Lys), p.?] | Less severe | Childhood or Adult | Unknown | 1 | |
|
||||||||||
Variant info | Patients:3 | intron 12 | c.1754+1G>A | r.spl | p.? | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:3 | intron 12 | c.1754+1dup | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 3 | |
|
||||||||||
Variant info | Patients:1 | intron 12 | c.1754+2T>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+2T>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+12G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+100C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+104C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+144C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1755-186A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 12 | c.1754+16C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 12 | c.1755-1G>A | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1760T>C | r.(1760u>c) | p.(Leu587Pro) | Unknown | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1771C>T | r.(1771c>u) | p.(Arg591Trp) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1776del | r.(1776del) | p.(Thr593Hisfs*5) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1780C>T | r.(1780c>u) | p.(Arg594Cys) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 13 | c.1781G>C | r.(1781g>c) | p.(Arg594Pro) | Potentially less severe | Childhood or adult | Positive | 3 | |
|
||||||||||
Variant info | Patients:3 | exon 13 | c.1781G>A | r.(1781g>a) | p.(Arg594His) | Potentially less severe | Childhood | Positive | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1784C>T | r.(1784c>u) | p.(Pro595Leu) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1796C>A | r.(1796c>a) | p.(Ser599Tyr) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:5 | exon 13 | c.1796C>T | r.(1796c>u) | p.(Ser599Phe) | Less severe | Unknown (disease-associated) | Positive | 5 | |
|
||||||||||
Variant info | Patients:18 | exon 13 | c.1798C>T | r.(1798c>u) | p.(Arg600Cys) | Less severe | Classic infantile | Positive | 18 | |
|
||||||||||
Variant info | Patients:13 | exon 13 | c.1799G>A | r.(1799g>a) | p.(Arg600His) | Potentially less severe | Classic infantile | Positive | 13 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1799G>C | r.(1799g>c) | p.(Arg600Pro) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1799G>T | r.(1799g>u) | p.(Arg600Leu) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1802C>A | r.(1802c>a) | p.(Ser601*) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1802C>G | r.(1802c>g) | p.(Ser601Trp) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:10 | exon 13 | c.1802C>T | r.(1802c>u) | p.(Ser601Leu) | Potentially less severe | Classic infantile | Positive | 10 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1804A>G | r.(1804a>g) | p.(Thr602Ala) | Less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1805C>T | r.(1805c>u) | p.(Thr602Ile) | Potentially less severe | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1814G>A | r.(1814g>a) | p.(Gly605Asp) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1819_1836del | r.(1819_1836del) | p.(Gly607_His612del) | Very severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1820G>A | r.(1820g>a) | p.(Gly607Asp) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:8 | exon 13 | c.1822C>T | r.(1822c>u) | p.(Arg608*) | Very severe | Classic infantile | Negative | 8 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1822del | r.(1822del) | p.(Arg608Aspfs*88) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1824_1828dup | r.(1824_1828dup) | p.(Ala610Aspfs*88) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1825T>G | r.(1825u>g) | p.(Tyr609Asp) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:4 | exon 13 | c.1826dup | r.(1826dup) | p.(Tyr609*) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:3 | exon 13 | c.1827del | r.(1827del) | p.(Tyr609*) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1827C>G | r.(1827c>g) | p.(Tyr609*) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1829C>T | r.(1829c>u) | p.(Ala610Val) | Less severe | Childhood | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1830C>T | r.(1830c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1832G>A | r.(1832g>a) | p.(Gly611Asp) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:5 | exon 13 | c.1833_1847delinsACGGGGTAT | c.(1833_1847delinsacgggguau) | p.(His612_Asp616delinsArgGlyIle) | Very severe | Classic infantile | Positive | 5 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1834C>T | r.(1834c>u) | p.(His612Tyr) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1835A>C | r.(1835a>c) | p.(His612Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1835A>G | r.(1835a>g) | p.(His612Arg) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1836C>G | r.(1836c>g) | p.(His612Gln) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 13 | c.1837T>G | r.(1837u>g) | p.(Trp613Gly) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1839G>C | r.(1839g>c) | p.(Trp613Cys) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1840A>G | r.(1840a>g) | p.(Thr614Ala) | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 13 | c.1841C>A | r.(1841c>a) | p.(Thr614Lys) | Potentially less severe | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:9 | exon 13 | c.1843G>A | r.(1843g>a) | p.(Gly615Arg) | Potentially less severe | Classic infantile | Positive | 9 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1844_1846del | r.(1844_1846del) | p.(Gly615del) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1844G>T | r.(1844g>u) | p.(Gly615Val) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1844G>A | r.(1844g>a) | p.(Gly615Glu) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1846G>A | r.(1846g>a) | p.(Asp616Asn) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1847dup | r.(1847dup) | p.(Asp616Glufs*20) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1848dup | r.(1848dup) | p.(Val617Argfs*19) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1850T>C | r.(1850u>c) | p.(Val617Ala) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 13 | c.1856G>A | r.(1856g>a) | p.(Ser619Asn) | Less severe | Childhood or Adult | Positive | 4 | |
|
||||||||||
Variant info | Patients:14 | exon 13 | c.1857C>G | r.(1857c>g) | p.(Ser619Arg) | Less severe | Classic infantile or Childhood | Positive | 14 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1859C>A | r.(1859c>a) | p.(Ser620Tyr) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1872C>T | r.(1872c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1879T>C | r.(1879u>c) | p.(Ser627Pro) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 13 | c.1879_1881del | r.(1879_1881delucc) | p.(Ser627del) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:5 | exon 13 | c.1880C>T | r.(1880c>u) | p.(Ser627Phe) | Unknown | Classic infantile | Positive | 5 | |
|
||||||||||
Variant info | Patients:0 | exon 13 | c.1886C>T | r.(1886c>u) | p.(Pro629Leu) | Presumably non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | intron 13 | c.1888+1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | intron 13 | c.1888+2_1888+15del | r.spl | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 13 | c.1888+21G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 13 | c.1889-27_2040+23del | r.spl | p.? | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients: | exon 14 | c.1895T>C | r.(1895u>c) | p.(Leu632Pro) | potentially less severe | Unknown (disease-associated) | Positive | ||
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1895T>G | r.(1895u>g) | p.(Leu632Arg) | potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1903A>G | r.(1903a>g) | p.(Asn635Asp) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 14 | c.1905C>A | r.(1905c>a) | p.(Asn635Lys) | Potentially less severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:14 | exon 14 | c.1912G>T | r.(1912g>u) | p.(Gly638Trp) | Potentially less severe | Classic infantile | Unknown | 14 | |
|
||||||||||
Variant info | Patients:3 | exon 14 | c.1913G>T | r.(1913g>u) | p.(Gly638Val) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1913G>A | r.(1913g>a) | p.(Gly638Glu) | potentially less severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1917G>A | r.(1917g>a) | p.(=) | Non-pathogenic | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1920T>G | r.(1920u>g) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1921C>G | r.(1921c>g) | p.(Leu641Val) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1923G>A | r.(1923g>a) | p.(=) | Non-pathogenic | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1924G>T | r.(1924g>u) | p.(Val642Phe) | Unknown | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1925T>A | r.(1925u>a) | p.(Val642Asp) | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:34 | exon 14 | c.1927G>A | r.[1927g>a, 1755_1928del, 1889_1928del] | p.[Gly643Arg, Leu587_Ala644del, Glu630Gly*53] | Potentially less severe | Classic infantile | Unknown | 34 | |
|
||||||||||
Variant info | Patients:4 | exon 14 | c.1930_1936dup | r.(1930_1936dup) | p.(Val646Glyfs*93) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1930G>C | r.(1930g>c) | p.(Ala644Pro) | Unknown | Adult | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 14 | c.1933G>C | r.(1933g>c) | p.(Asp645His) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:19 | exon 14 | c.1933G>A | r.(1933g>a) | p.(Asp645Asn) | Potentially less severe | Classic infantile | Positive | 19 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1933G>T | r.(1933g>u) | p.(Asp645Tyr) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:104 | exon 14 | c.1935C>A | r.(1935c>a) | p.(Asp645Glu) | Potentially less severe | Classic infantile | Positive | 104 | |
|
||||||||||
Variant info | Patients:9 | exon 14 | c.1941C>G | r.(1941c>g) | p.(Cys647Trp) | Potentially less severe | Classic infantile | Positive | 9 | |
|
||||||||||
Variant info | Patients:24 | exon 14 | c.1942G>A | r.(1942g>a) | p.(Gly648Ser) | Potentially less severe | Classic infantile | Unknown | 24 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1943G>A | r.(1943g>a) | p.(Gly648Asp) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1944_1950del | r.(1944_1950del) | p.(Phe649_Leu650del) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1951_1952delinsT | r.(1951_1952delinsu) | p.(Gly651Serfs*45) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1952dup | r.(1951del) | p.(Asn652Glnfs*85) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1958C>A | r.(1958c>a) | p.(Thr653Asn) | Unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1960T>C | r.(1960u>c) | p.(Ser654Pro) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1961C>G | r.(1961c>g) | p.(Ser654*) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1962_1964del | r.(1962_1964del) | p.(Glu656del) | Very severe | Unknown | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1971G>A | r.(1971g>a) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1978C>T | r.(1978c>u) | p.(Arg660Cys) | Potentially less severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:6 | exon 14 | c.1979G>A | r.(1979g>a) | p.(Arg660His) | Potentially less severe | Childhood | Positive | 6 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.1981T>G | r.(1981u>g) | p.(Trp661Gly) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.1987del | r.(1987del) | p.(Gln663Serfs*33) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.1993G>A | r.(1993g>a) | p.(Gly665Arg) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.2003A>G | r.(2003a>g) | p.(Tyr668Cys) | potentially less severe | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 14 | c.2004C>A | r.(2004c>a) | p.(Tyr668*) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.2012T>A | r.(2012u>a) | p.(Met671Lys) | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.2012T>G | r.(2012u>g) | p.(Met671Arg) | Potentially less severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:10 | exon 14 | c.2014C>T | r.(2014c>u) | p.(Arg672Trp) | Less severe | childhood or adult | Positive | 10 | |
|
||||||||||
Variant info | Patients: | exon 14 | c.2015G>T | r.(2015g>u) | p.(Arg672Leu) | Potentially less severe | Unknown (disease-associated) | Positive | ||
|
||||||||||
Variant info | Patients:6 | exon 14 | c.2015G>A | r.(2015g>a) | p.(Arg672Gln) | Less severe | Classic infantile or Childhood | Unknown | 6 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.2020C>G | r.(2020c>g) | p.(His674Asp) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.2020C>T | r.(2020c>u) | p.(His674Tyr) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:7 | exon 14 | c.2024_2026del | r.(2024_2026del) | p.(Asn675del) | Potentially less severe | Classic infantile | Positive | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 14 | c.2024A>G | r.(2024a>g) | p.(Asn675Ser) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 14 | c.2040G>A | r.[(2040g>a), r.(spl?)] | p.[(=), p.?] | Less severe | Childhood | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 14 | c.2040+1G>T | r.spl | p.? | Very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 14 | c.2040+2dup | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+12G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+20A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+20A>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+22G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 14 | c.2040+29_2190-270del | r.spl | p.(Pro681_Glu730del) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+66C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2040+69A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2041-64G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2041-61del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 14 | c.2041-2A>C | r.spl | p.? | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 14 | c.2041-2A>G | r.spl | p.? | very severe | Classic infantile | Unknown | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 14 | c.2041-1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2045A>G | r.(2045a>g) | p.(Gln682Arg) | Unknown | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2051C>A | r.(2051c>a) | p.(Pro684Gln) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients: | exon 15 | c.2051C>G | r.(2051c>g) | p.(Pro684Arg) | Potentially less severe | Unknown (disease-associated) | Unknown | ||
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2051C>T | r.(2051c>u) | p.(Pro684Leu) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2055C>A | r.(2055c>a) | p.(Tyr685*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2055C>G | r.(2055c>g) | p.(Tyr685*) | very severe | Unknown (found only in NBS) | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2056_2057delinsCC | r.(2056_2057delinscc) | c.2056_2057delinsCC) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2061C>T | r.(2061c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2065G>A | r.2065g>a | p.(Glu689Lys) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:3 | exon 15 | c.2066_2070dup | r.(2066_2070dup) | p.(Ala691Serfs*7) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:7 | exon 15 | c.2078dup | r.(2078dup) | p.(Ala694Glyfs*43) | Very severe | Classic infantile | Negative | 7 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2084dup | r.(2084dup) | p.(Met695Ilefs*42) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2096T>C | r.(2096u>c) | p.(Leu699Pro) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2097_2102del | r.(2097_2102del) | p.(Thr700_Leu701del) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:6 | exon 15 | c.2104C>T | r.(2104c>u) | p.(Arg702Cys) | Potentially less severe | Classic infantile | Positive | 6 | |
|
||||||||||
Variant info | Patients:5 | exon 15 | c.2105G>A | r.(2105g>a) | p.(Arg702His) | Potentially mild | Classic infantile | Positive | 5 | |
|
||||||||||
Variant info | Patients:4 | exon 15 | c.2105G>T | r.(2105g>u) | p.(Arg702Leu) | Potentially less severe | Classic infantile | Positive | 4 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2109del | r.(2109del) | p.(Tyr703*) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2114T>C | r.(2114u>c) | p.(Leu705Pro) | Unknown | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2131A>C | r.(2131a>c) | p.(Thr711Pro) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 15 | c.2132C>G | r.(2132c>g) | p.(Thr711Arg) | Non-pathogenic | Classic infantile | Unknown | 4 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2133A>G | r.2133a>g | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 15 | c.2135T>C | r.(2135u>c) | p.(Leu712Pro) | Less severe | Unknown (disease-associated) | Positive | 4 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2136_2137del | r.(2136_2137del) | p.(Phe713Profs*23) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2140del | r.(2140del) | p.(His714Thrfs*50) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2146G>C | r.(2146g>c) | p.(Ala716Pro) | potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2152G>A | r.(2152g>a) | p.(Val718Ile) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2153_2156delinsACGCCG | r.(2153_2156delinsacgccg) | p.(Val718Aspfs*47) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2154C>T | r.(2154c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 15 | c.2161dup | r.(2161dup) | p.(Glu721Glyfs*16) | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2161G>T | r.(2161g>u) | p.(Glu721*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2167G>A | r.(2167g>a) | p.(Val723Met) | Unknown | Childhood | Positive | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 15 | c.2171C>A | r.(2171c>a) | p.(Ala724Asp) | Unknown | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:8 | exon 15 | c.2173C>T | r.(2173c>u) | p.(Arg725Trp) | Less severe | Childhood or Adult | Positive | 8 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2174G>C | r.(2174g>c) | p.(Arg725Pro) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 15 | c.2174G>A | r.(2174g>a) | p.(Arg725Gln) | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2177C>G | r.(2177c>g) | p.(Pro726Arg) | Unknown | Childhood | Positive | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 15 | c.2182_2183del | r.(2182_2183del) | p.(Phe728Profs*8) | very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2185del | r.(2185del) | p.(Leu729Trpfs*35) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 15 | c.2188G>T | r.(2188g>u) | p.(Glu730*) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1G>A | r.spl | p.? | Very severe | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 15 | c.2189+3G>C | r.(spl?) | p.? | Very severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+95C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+263G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 15 | c.2189+459_3405del | r.spl | p.? | Very severe | Classic infantile | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+510T>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+607G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+616T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+723G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+729A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+859A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+884G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1153A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1201C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1208A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1263A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1290A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2189+1600C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-1531G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-1463G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-1139A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-1005A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-686G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-647G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-536G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-490G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-444A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-336C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 15 | c.2190-345A>G | r.? | p.? | potentially less severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:0 | intron 15 | c.2190-53C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2205dup | r.(2205dup) | p.(Ser736*) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2210C>A | r.(2210c>a) | p.(Thr737Asn) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2213G>A | r.(2213g>a) | p.(Trp738*) | very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2214G>A | r.(2214g>a) | p.(Trp738*) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2219_2220del | r.(2219_2220del) | p.(Val740Glyfs*55) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2221G>A | r.(2221g>a) | p.(Asp741Asn) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2222A>T | r.(2222a>u) | p.(Asp741Val) | potentially less severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2227C>A | r.(2227c>a) | p.(Gln743Lys) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2227C>T | r.(2227c>u) | p.(Gln743*) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2228A>G | r.(2228a>g) | p.(Gln743Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2234T>C | r.(2234u>c) | p.(Leu745Pro) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2235dup | r.(2235dupg) | p.(Trp746Valfs*50) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 16 | c.2236T>C | r.(2236u>c) | p.(Trp746Arg) | Potentially less severe | Classic infantile | Positive | 3 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2236T>G | r.(2236u>g) | p.(Trp746Gly) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2237G>C | r.(2237g>c) | p.(Trp746Ser) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2237G>T | r.(2237g>u) | p.(Trp746Leu) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:31 | exon 16 | c.2237G>A | r.(2237g>a) | p.(Trp746*) | Very severe | Classic infantile | Negative | 31 | |
|
||||||||||
Variant info | Patients:37 | exon 16 | c.2238G>C | r.(2238g>c) | p.(Trp746Cys) | Potentially mild | Childhood or adult | Unknown | 37 | |
|
||||||||||
Variant info | Patients:6 | exon 16 | c.2238G>A | r.(2238g>a) | p.(Trp746*) | Very severe | Classic infantile | Negative | 6 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2240G>A | r.(2240g>a) | p.(Gly747Glu) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:10 | exon 16 | c.2242dup | r.(2242dup) | p.(Glu748Glyfs*48) | Very severe | Classic infantile | Negative | 10 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2242G>T | r.(2242g>u) | p.(Glu748*) | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2255_2257del | r.(2255_2257del) | p.(Ile752del) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2261dup | r.(2261dup) | p.(Val755Serfs*41) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 16 | c.2269C>T | r.(2269c>u) | p.(Gln757*) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2274dup | r.(2274dup) | p.(Gly759Argfs*37) | Very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2276G>C | r.(2276g>c) | p.(Gly759Ala) | Potentially mild | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2281delinsAT | r.(2281delinsau) | p.(Ala761Ilefs*35) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2284G>A | r.(2284g>a) | p.(Glu762Lys) | Unknown | Unknown | Unknown | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2294G>A | r.(2294g>a) | p.(Gly765Asp) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2296T>A | r.(2296u>a) | p.(Tyr766Asn) | potentially less severe | Classic infantile | Positive | 0 | |
|
||||||||||
Variant info | Patients: | exon 16 | c.2297A>C | r.(2297a>c) | p.(Tyr766Ser) | Potentially less severe | Classic infantile | Positive | ||
|
||||||||||
Variant info | Patients:3 | exon 16 | c.2297A>G | r.(2297a>g) | p.(Tyr766Cys) | Potentially less severe | Childhood or adult | Positive | 3 | |
|
||||||||||
Variant info | Patients:3 | exon 16 | c.2298_2301delinsAAAGTA | r.(2298_2301delinsaaagua) | p.(Tyr766*) | Very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2300del | r.(2300del) | p.(Phe767Serfs*14) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2303C>G | r.(2303c>g) | p.(Pro768Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2303C>T | r.(2303c>u) | p.(Pro768Leu) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2304del | r.(2304del) | p.(Leu769Trpfs*12) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2314T>C | r.(2314u>c) | p.(Trp772Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 2 | |
|
||||||||||
Variant info | Patients:0 | exon 16 | c.2320G>A | r.(2320g>a) | p.(Asp774Asn) | potentially less severe | Unknown (disease-associated) | Unknown | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 16 | c.2322_2323insggtgagtctgcaaacggggagt | r.(2322_2323insggugagucugcaaacggggagu) | p.(Asp774Glufs*14) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 16 | c.2326C>T | r.(2326c>u) | p.(Gln776*) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | intron 16 | c.2331+1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:2 | intron 16 | c.2331+2T>C | r.2316_2331del | p.(Tyr773fs*3) | Very severe | Classic infantile | Unknown | 2 | |
|
||||||||||
Variant info | Patients:8 | intron 16 | c.2331+2T>A | r.[2315_2331delins2332-109_2332-1 ,2315_2331del] | p.[Trp772Cysfs*40, Trp772Cysfs*18] | Very severe | Classic infantile | Negative | 8 | |
|
||||||||||
Variant info | Patients:1 | intron 16 | c.2331+4A>G | r.(spl?) | p.? | Less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 16 | c.2331+5G>C | r.(spl?) | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 16 | c.2331+20G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 16 | c.2331+24T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 16 | c.2331+102del | r.?) | p.? | presumably non pathogenic | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 16 | c.2331+151C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 16 | c.2332-198A>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2334_2335dup | r.(2334_2335dup) | p.(Pro779Argfs*3) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 17 | c.2338G>A | r.2338g>a | p.(Val780Ile) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 17 | c.2357dup | r.(2357dup) | p.(Pro788Thrfs*8) | Very severe | Unknown | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2373_2376delinsTGCTCA | r.(2373_2376delinsugcuca) | p.(Pro793Hisfs*14) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2377_2378insAC | r.(2377_2378insAC) | p.(Pro793Hisfs*14) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 17 | c.2380del | r.(2380del) | p.(Arg794fs*12) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2380dup | r.(2380dup) | p.(Arg794Profs*2) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2385del | r.(2385del) | p.(Glu795Aspfs*11) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 17 | c.2395C>G | r.(2395c>g) | p.(His799Asp) | Unknown | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 17 | c.2395C>T | r.(2395c>u) | p.(His799Tyr) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2407_2412del | r.(2407_2412del) | p.(Gln803_Trp804del) | Unknown | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2407C>T | r.(2407c>u) | p.(Gln803*) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2408_2426del | r.(2408_2426del) | p.(Gln803Profs*39) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2411G>A | r.(2411g>a) | p.(Trp804*) | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 17 | c.2431dup | r.(2431dup) | p.(Leu811Profs*73) | Very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:2 | exon 17 | c.2431del | r.(2431del) | p.(Leu811Trpfs*37) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:3 | exon 17 | c.2432del | r.(2432del) | p.(Leu811fs*36) | Very severe | Classic infantile | Negative | 3 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2439dup | r.(2439dup) | p.(Ile814Hisfs*70) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 17 | c.2446G>A | r.2446g>a | p.(Val816Ile) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 17 | c.2456G>C | r.(2456g>c) | p.(Arg819Pro) | Potentially less severe | Unknown (disease-associated) | Positive | 4 | |
|
||||||||||
Variant info | Patients:3 | exon 17 | c.2459_2461del | r.(2459_2461del) | p.(Ala820del) | Potentially less severe | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 17 | c.2460dup | r.(2460dup) | p.(Gly821Trpfs*63) | very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2474C>G | r.(2474c>g) | p.(Pro825Arg) | Potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 17 | c.2480A>G | r.(2480a>g) | p.(Gln827Arg) | potentially less severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 17 | c.2481+1G>A | r.spl | p.? | Very severe | Childhood | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 17 | c.2481+2T>C | r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del] | p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del] | Very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:116 | intron 17 | c.2481+102_2646+31del | r.2482_2646del | p.(Gly828_Asn882del) | Very severe | Classic infantile | Positive | 116 | |
|
||||||||||
Variant info | Patients:0 | intron 17 | c.2482-132C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 17 | c.2482-5T>C | r.? | p.? | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 17 | c.2482-2A>G | r.spl | p.? | unknown | Unknown (found only in NBS) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:4 | exon 18 | c.2495_2496del | r.(2495_2496del) | p.(Thr832Asnfs*51) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:7 | exon 18 | c.2501_2502del | r.(2501_2502del) | p.(Thr834Argfs*49) | Very severe | Classic infantile | Negative | 7 | |
|
||||||||||
Variant info | Patients:4 | exon 18 | c.2512C>T | r.(2512c>u) | p.(Gln838*) | Very severe | Classic infantile | Negative | 4 | |
|
||||||||||
Variant info | Patients:0 | exon 18 | c.2515C>T | r.(2515c>u) | p.(Gln839*) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2528T>C | r.(2528u>c) | p.(Leu843Pro) | Unknown | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:5 | exon 18 | c.2530_2541del | r.(2530_2541del) | p.(Arg844_Leu847del) | Potentially less severe | Unknown (disease-associated) | Positive | 5 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2537C>A | r.(2537c>a) | p.(Ala846Asp) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 18 | c.2544del | r.(2544del) | p.(Lys849Argfs*38) | very severe | Unknown (disease-associated) | Negative | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 18 | c.2553G>A | r.2553g>a | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:77 | exon 18 | c.2560C>T | r.(2560c>u) | p.(Arg854*) | Very severe | Classic infantile | Negative | 77 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2563G>C | r.(2563g>c) | p.(Gly855Arg) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:3 | exon 18 | c.2578G>A | r.(2578g>a) | p.(Asp860Asn) | Potentially less severe | Unknown (disease-associated) | Positive | 3 | |
|
||||||||||
Variant info | Patients:2 | exon 18 | c.2584G>A | r.(2584g>a) | p.(Gly862Arg) | Potentially less severe | Childhood | Positive | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2585del | r.(2585del) | p.(Gly862Glufs*25) | very severe | Classic infantile | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2596del | r.(2596del) | p.(Glu866Lysfs*21) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2600_2604delinsA | r.(2600_2604delinsa) | p.(Val867Glufs*19) | Very severe | Classic infantile or Childhood | Negative | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2605del | r.(2605del) | p.(Glu869Serfs*18) | Very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:10 | exon 18 | c.2608C>T | r.(2608c>u) | p.(Arg870*) | Very severe | Classic infantile | Negative | 10 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2619C>G | r.(2619c>g) | p.(Tyr873*) | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2636T>C | r.(2636u>c) | p.(Leu879Pro) | potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2639C>A | r.(2639c>a) | p.(Ala880Asp) | Potentially less severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 18 | c.2646_2646+1del | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:6 | intron 18 | c.2646+2T>A | r.spl | p.? | Very severe | Classic infantile | Unknown | 6 | |
|
||||||||||
Variant info | Patients:0 | intron 18 | c.2646+39G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 18 | c.2647-71G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | intron 18 | c.2647-23del | r.? | p.? | unknown | Unknown (found only in NBS) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | intron 18 | c.2647-20T>G | r.(spl?) | p.? | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:12 | intron 18 | c.2647-7G>A | r.(spl?) | p.? | Potentially mild | Adult | Unknown | 12 | |
|
||||||||||
Variant info | Patients:3 | exon 19 | c.2655_2656del | r.(2655_2656del) | p.(Val886Glufs*2) | very severe | Unknown (disease-associated) | Negative | 3 | |
|
||||||||||
Variant info | Patients:26 | exon 19 | c.2662G>T | r.(2662g>u) | p.(Glu888*) | Very severe | Classic infantile | Negative | 26 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2702T>A | r.(2702u>a) | p.(Leu901Gln) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 19 | c.2706del | r.(2706del) | p.(Lys903Argfs*2) | Very severe | Unknown (disease-associated) | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2707_2709del | r.(2707_2709del) | p.(Lys903del) | Very severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2716G>A | r.(2716g>a) | p.(Val906Ile) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2720T>C | r.(2720u>c) | p.(Leu907Pro) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 19 | c.2724C>G | r.(2724c>g) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 19 | c.2725G>A | r.(2725g>a) | p.(Val909Met) | potentially less severe | Unknown (disease-associated) | Positive | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2738C>G | r.(2738c>g) | p.(Pro913Arg) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2740dup | r.(2740dup) | p.(Gln914Profs*104) | very severe | Unknown (disease-associated) | Negative | 1 | |
|
||||||||||
Variant info | Patients:5 | exon 19 | c.2741delinsCAG | r.(2741delinscag) | p.(Gln914fs*30) | Very severe | Classic infantile | Negative | 5 | |
|
||||||||||
Variant info | Patients:0 | exon 19 | c.2742dup | r.(2742dup) | p.(Gln915Alafs*103) | very severe | Classic infantile | Negative | 0 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2744A>C | r.(2744a>c) | p.(Gln915Pro) | Unknown | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2746G>T | r.(2746g>u) | p.(Val916Phe) | Potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:2 | exon 19 | c.2757del | r.(2757del) | p.(Asn919Lysfs*24) | very severe | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 19 | c.2758_2775dup | r.(2758_2775dup) | p.(ly920_Asn925dup) | Very severe | Classic infantile | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 19 | c.2770T>C | r.(2770u>c) | p.(Ser924Pro) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 19 | c.2780C>T | r.2780c>u | p.(Thr927Ile) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:4 | exon 19 | c.2783A>G | r.(2783a>g) | p.(Tyr928Cys) | Unknown | Unknown (disease-associated) | Positive | 4 | |
|
||||||||||
Variant info | Patients:2 | intron 19 | c.2799+4A>G | r.(spl?) | p.? | Unknown | Adult | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 19 | c.2799+5G>A | r.(spl?) | p.? | very severe | Unknown (disease-associated) | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | intron 19 | c.2800-60G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | intron 19 | c.2800-227C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:2 | intron 19 | c.2800-4C>G | r.(=) | p.? | Unknown | Unknown (disease-associated) | Unknown | 2 | |
|
||||||||||
Variant info | Patients:1 | intron 19 | c.2800-1G>C | r.spl | p.? | very severe | Classic infantile | Unknown | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 20 | c.2804T>C | r.(2804u>c) | p.(Leu935Pro) | Potentially less severe | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20 | c.2808C>T | r.(2808c>u) | p.(=) | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:6 | exon 20 | c.2815_2816del | r.(2815_2816del) | p.(Val939Leufs*78) | Very severe | Classic infantile | Negative | 6 | |
|
||||||||||
Variant info | Patients:2 | exon 20 | c.2843dup | r.(2843dup) | p.(Val949Argfs*69) | very severe | Classic infantile | Negative | 2 | |
|
||||||||||
Variant info | Patients:1 | exon 20 | c.2845_2847del | r.(2845_2847del) | p.(Val949del) | potentially less severe | Unknown (disease-associated) | Positive | 1 | |
|
||||||||||
Variant info | Patients:1 | exon 20 | c.2846T>A | r.(2846u>a) | p.(Val949Asp) | Potentially less severe | Childhood | Positive | 1 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*3G>A | r.(*3g>a) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*16T>A | r.(*16u>a) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*91G>A | r.(*91g>a) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*140del | r.(*140del) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*143C>T | r.(*143c>u) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*154_*155insG | r.(*154_*155insg) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*223C>T | r.(*223c>u) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients:0 | exon 20, 3' UTR | c.*227G>C | r.(*227g>c) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
|
||||||||||
Variant info | Patients: | exon 20, 3' UTR | c.*418T>C | r.(*418u>c) | p.? | Non-pathogenic | Unknown | Positive | ||
|
||||||||||
The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC. We kindly ask you to reference one of the following articles if you use this database for research purposes: de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening. Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854 |
www.pompecenter.nl |
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