| Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | |
|---|---|---|---|---|---|---|---|---|---|
| Variant info |
GAA and part of CCDC40
|
Ch37/hg19:g.78,056,048_ 78,094,854delins14bp | r.(-212_*551del) | p.(0) | Very severe | Classic infantile | Negative | ||
| Variant info |
CCDC40 and GAA exon 1
|
Ch37/hg19 chr17:78,059,821_ 78,076,592del | r.0 | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 1A, 5' UTR
|
c.-338C>G | r.(-338c>g) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 1A, 5' UTR
|
c.-260G>C | r.(-260g>c) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 1A, 5' UTR
|
c.-178G>A | r.(-178g>a) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1A
|
c.-113+2T>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 1B, 5' UTR
|
c.-82G>C | r.(-82g>c) | p.? | Unknown | Unknown | Positive | ||
| Variant info |
exon 1B, 5' UTR
|
c.-75C>G | r.(-75c>g) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+219G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+316C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+317C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+671A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+757G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+903A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+1104A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+1172G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+1190G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-33+1309T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-1298G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-1124C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-884T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-793C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-721G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-686A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-640C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-521G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-494C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-462G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 1B
|
c.-32-17_-32-10delins(30) | r.? | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
intron 1B
|
c.-32-13T>G | r.[=,-32_546del,-32_486del] | p.[=,0] | Potentially mild | Childhood or Adult | Positive | ||
| Variant info |
intron 1B
|
c.-32-3C>G | r.(=) | p.? | Less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 1B
|
c.-32-3C>A | r.(=) | p.? | Less severe | Childhood | Unknown | ||
| Variant info |
intron 1B
|
c.-32-2A>G | r.spl | p.? | Very severe | Childhood or Adult | Unknown | ||
| Variant info |
intron 1B
|
c.-32-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 2
|
c.1A>T | r.(1a>u) | p.(0) | Potentially less severe | Unknown | Negative | ||
| Variant info |
exon 2
|
c.1A>G | r.(1a>g) | p.(0) | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
exon 2
|
c.2T>C | r.(2u>c) | p.(0) | Potentially less severe | Childhood | Negative | ||
| Variant info |
exon 2
|
c.3G>A | r.(3g>a) | p.(0) | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
exon 2
|
c.18_25del | r.(18_25del) | p.(Cys8Profs*24) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.25del | r.(25del) | p.(Ser9Profs*34) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.40_47del | r.(40_47del) | p.(Ala14Argfs*18) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.32G>A | r.(32g>a) | p.(Arg11Gln) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.54C>T | r.(54c>u) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.104T>C | r.(104u>c) | p.(Phe35Ser) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.118C>T | r.(118c>u) | p.(Arg40*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.136T>C | r.(136u>c) | p.(Ser46Pro) | Non-pathogenic | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.147_859-12del | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.169C>T | r.(169c>u) | p.(Gln57*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.172C>T | r.(172c>u) | p.(Gln58*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.186_196dup | r.(186_196dup) | p.(Arg66Hisfs*80) | Very severe | Unknown | Negative | ||
| Variant info |
exon 2
|
c.205C>T | r.(205c>u) | p.(Gln69*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.199G>A | r.(199g>a) | p.(Asp67Asn) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.221G>A | r.(221g>a) | p.(Arg74His) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.236_246del | r.(236_246del) | p.(Pro79Argfs*13) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.241C>T | r.(241c>u) | p.(Gln81*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.258dup | r.(258dup) | p.(Asn87Glnfs*9) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.258C>A | r.(258c>a) | p.? | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.265C>T | r.(265c>u) | p.(Arg89Cys) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.266G>A | r.(266g>a) | p.(Arg89His) | Presumably non-pathogenic | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.271G>A | r.271g>a | p.(Asp91Asn) | Presumably non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.271del | r.(271del) | p.(Asp91Ilefs*51) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.295_314del | r.(295_314del) | p.(Thr99Profs*40) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.307T>C | r.(307u>c) | p.(Cys103Arg) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 2
|
c.307T>G | r.(307u>g) | p.(Cys103Gly) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.309C>G | r.(309c>g) | p.(Cys103Trp) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 2
|
c.309C>A | r.(309c>a) | p.(Cys103*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.317G>A | r.(317g>a) | p.(Arg106His) | potentially less severe | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 2
|
c.322T>G | r.(322u>g) | p.(Cys108Gly) | Potentially less severe | Unknown | Unknown | ||
| Variant info |
exon 2
|
c.323G>A | r.(323g>a) | p.(Cys108Ser) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.323G>C | r.(323g>c) | p.(Cys108Ser) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.324T>C | r.324u>c | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.340_341insT | r.(340_341insu) | p.(Lys114Ilefs*32) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.343C>T | r.(343c>u) | p.(Gln115*) | Very severe | Childhood or Adult | Negative | ||
| Variant info |
exon 2
|
c.352C>T | r.(352c>u) | p.(Gln118*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.363G>A | r.(363g>a) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.364A>G | r.(364a>g) | p.(Met122Val) | Less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 2
|
c.365del | r.(365del) | p.(Met122Argfs*20) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.365T>A | r.(365u>a) | p.(Met122Lys) | unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 2
|
c.377G>A | r.(377g>a) | p.(Trp126*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.378G>A | r.(378g>a) | p.(Trp126*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.379_380del | r.(379_380del) | p.(Cys127Leufs*18) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.380G>A | r.(380g>a) | p.(Cys127Tyr) | Potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 2
|
c.380G>T | r.(380g>u) | p.(Cys127Phe) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.397T>G | r.(397u>g) | p.(Tyr133Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.399C>A | r.(399c>a) | p.(Tyr133*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.421C>A | r.(421c>a) | p.(Leu141Met) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.424_440del | r.(424_440del) | p.(Ser142Lleufs*29) | Very severe | Unknown (found only in NBS) | Negative | ||
| Variant info |
exon 2
|
c.437del | r.(437del) | p.(Met146Argfs*7) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.444C>G | r.(444c>g) | p.(Tyr148*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.445A>C | r.(445a>c) | p.(Thr149Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.447G>A | r.(447g>a) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.460_465del | r.(460_465del) | p.(Arg154_Thr155del) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.461G>C | r.(461g>c) | p.(Arg154Pro) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.461_469del | r.(461_469del) | p.(Arg154_Thr156del) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.482_483del | r.(482_483del) | p.(Pro161Glnfs*15) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 2
|
c.483dup | r.(483dup) | p.(Lys162Glnfs*15) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.484A>C | r.(484a>c) | p.(Lys162Gln) | Potentially less severe | Classic infantile | Unknown | ||
| Variant info |
exon 2
|
c.502C>T | r.(502c>u) | p.(Arg168Trp) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.503G>A | r.(503g>a) | p.(Arg168Gln) | Unknown | Childhood | Unknown | ||
| Variant info |
exon 2
|
c.503G>C | r.(503g>c) | p.(Arg168Pro) | Unknown | Childhood | Positive | ||
| Variant info |
exon 2
|
c.505C>A | r.(505c>a) | p.(Leu169Met) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 2
|
c.506T>C | r.(506u>c) | p.(Leu169Pro) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 2
|
c.510C>T | r.(510c>u) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.517_519del | r.(517_519del) | p.(Met173del) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 2
|
c.525del | r.(525del) | p.(Glu176Argfs*45) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.525_526del | r.(525_526del) | p.(Asn177Profs*11) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 2
|
c.532C>T | r.(532c>u) | p.(Arg178Cys) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 2
|
c.533G>A | r.(533g>a) | p.(Arg178His) | Unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 2
|
c.541_545del | r.(541_545del) | p.(Phe181Aspfs*6) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 2
|
c.546G>A | r.[(546g>a), r.(spl?)] | p.[(=), p.?] | Potentially mild | Adult | Unknown | ||
| Variant info |
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 | ||
| Variant info |
exon 2
|
c.546G>C | r.[(546g>c), r.(spl?)] | p.[(=), p.?] | Potentially mild | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 2
|
c.546+1G>T | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 2
|
c.546+2T>C | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 2
|
c.546+2_546+5del | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 2
|
c.546+5G>T | r.(spl?) | p.? | Unknown | Unknown (found only in NBS) | Unknown | ||
| Variant info |
intron 2
|
c.546+24G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.546+45G>C | r.(=) | p.? | Unknown | Unknown | Positive | ||
| Variant info |
intron 2
|
c.546+293G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-243C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-238T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-67C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-39T>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-4C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 2
|
c.547-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 3
|
c.568C>T | r.(568c>u) | p.(Arg190Cys) | potentially less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 3
|
c.569G>A | r.(569g>a) | p.(Arg190His) | Less severe | Childhood | Positive | ||
| Variant info |
exon 3
|
c.572A>G | r.(572a>g) | p.(Tyr191Cys) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 3
|
c.573C>A | r.(573c>a) | p.(Tyr191*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 3
|
c.596A>G | r.(596a>g) | p.(His199Arg) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 3
|
c.623T>C | r.(623u>c) | p.(Leu208Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 3
|
c.634G>T | r.(634g>u) | p.(Glu212*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 3
|
c.642C>T | r.642c>u | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 3
|
c.650C>T | r.(650c>u) | p.(Pro217Leu) | Less severe | Classic infantile | Positive | ||
| Variant info |
exon 3
|
c.655G>A | r.(655g>a) | p.(Gly219Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 3
|
c.658G>T | r.(658g>u) | p.(Val220Leu) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 3
|
c.664G>A | r.(664g>a) | p.(Val222Met) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 3
|
c.665T>G | r.(665u>g) | p.(Val222Gly) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 3
|
c.668G>A | r.668g>a | p.(Arg223His) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 3
|
c.670C>T | r.(670c>u) | p.(Arg224Trp) | Less severe | Classic infantile or Childhood | Positive | ||
| Variant info |
exon 3
|
c.671G>C | r.(671g>c) | p.(Arg224Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 3
|
c.671G>A | r.(671g>a) | p.(Arg224Gln) | Potentially less severe | Adult | Positive | ||
| Variant info |
exon 3
|
c.685_686insCGGC | r.(685_686inscggc) | p.(Arg229Profs*102) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 3
|
c.686G>C | r.(686g>c) | p.(Arg229Pro) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 3
|
c.692T>C | r.(692u>c) | p.(Leu231Pro) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 3
|
c.692+1G>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 3
|
c.692+1G>T | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 3
|
c.692+1G>A | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
intron 3
|
c.692+5G>T | r.(spl?) | p.? | Less severe | Childhood or adult | Unknown | ||
| Variant info |
exon 3
|
c.691C>T | r.(691c>u) | p.(Arg190Cys) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 3
|
c.692+38C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.692+144A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.692+509T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.692+674G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.692+751T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-586G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-585T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-559C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-491G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-441C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-434C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-414C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-413A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-216T>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-94C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-78C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-49C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 3
|
c.693-2A>C | r.spl | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
intron 3
|
c.693-1G>C | r.spl | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 4
|
c.701C>G | r.(701c>g) | p.(Thr234Arg) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 4
|
c.701C>A | r.(701c>a) | p.(Thr234Lys) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.705G>A | r.(705g>a) | p.(=) | Unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 4
|
c.710C>T | r.(710c>u) | p.(Ala237Val) | Unknown | Adult | Positive | ||
| Variant info |
exon 4
|
c.715_716del | r.(715_716del) | p.(Leu239Valfs*90) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.716del | r.(716del) | p.(Leu239Argfs*29) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.719T>C | r.(719u>c) | p.(Phe240Ser) | Unknown | Adult | Positive | ||
| Variant info |
exon 4
|
c.722_723del | r.(722_723del) | p.(Phe241Cysfs*88) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.725C>T | r.(725c>u) | p.(Ala242Val) | Potentially mild | Unknown | Positive | ||
| Variant info |
exon 4
|
c.730C>T | r.(730c>u) | p.(Gln244*) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 4
|
c.736del | r.(736del) | p.(Leu246Phefs*22) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.737T>G | r.(737u>g) | p.(Leu246Arg) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.742del | r.(742del) | p.(Leu248Profs*20) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.743T>G | r.(743u>g) | p.(Leu248Arg) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.743T>C | r.(743u>c) | p.(Leu248Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.[752C>T; c.761C>T] | r.[(752c>u); (761c>u)] | p.[(Ser251Leu); (Ser254Leu)] | Presumably non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.756_757insT | r.(756_757insu) | p.(Pro253Serfs*77) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 4
|
c.759del | r.(759del) | p.(Ser254Argfs*14) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.763C>T | r.(763c>u) | p.(Gln255*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.766_784del | r.(766_784del) | p.(Tyr256Serfs*6) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 4
|
c.766_785delinsC | r.(766_785delinsc) | p.(Tyr256Argfs*6) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.768dup | r.(768dup) | p.(Ile257Tyrfs*73) | Very severe | Unknown | Negative | ||
| Variant info |
exon 4
|
c.776G>T | r.(776g>u) | p.(Gly259Val) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 4
|
c.781G>A | r.(781g>a) | p.(Ala261Thr) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 4
|
c.784G>A | r.(784g>a) | p.(Glu262Lys) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 4
|
c.784G>C | r.(784g>c) | p.(Glu262Gln) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.794del | r.(794del) | p.(Ser265Ilefs*3) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.796C>T | r.(796c>u) | p.(Pro266Ser) | Potentially mild | Classic infantile | Positive | ||
| Variant info |
exon 4
|
c.796C>A | r.(796c>a) | p.(Pro266Thr) | Potentially less severe | Childhood | Unknown | ||
| Variant info |
exon 4
|
c.799_803delinsA | r.(799_803delinsa) | p.(Leu267Serfs*46) | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 4
|
c.811A>G | r.(811a>g) | p.(Thr271Ala) | Non-pathogenic | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 4
|
c.827_845del | r.(827_845del) | p.(Ile276Thrfs*32) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.829_851del | r.(829_851del) | p.(Thr277Alafs*45) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 4
|
c.836G>A | r.(836g>a) | p.(Trp279*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 4
|
c.837G>C | r.(837g>c) | p.(Trp279Cys) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.841C>T | r.(841c>u) | p.(Arg281Trp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.844G>C | r.(844g>c) | p.(Asp282His) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 4
|
c.852G>A | r.(852g>a) | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 4
|
c.853C>T | r.(853c>u) | p.(Pro285Ser) | Less severe | Childhood or Adult | Positive | ||
| Variant info |
exon 4
|
c.854C>G | r.(854c>g) | p.(Pro285Arg) | Potentially mild | Childhood | Positive | ||
| Variant info |
intron 4
|
c.858+2T>A | r.spl | p.? | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
intron 4
|
c.858+5_858+6ins7 | r.(spl?) | p.? | Unknown | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+6G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+17_858+23del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+20dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+21C>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+17_858+23dup | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+30T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.858+37C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 4
|
c.859-2A>T | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 5
|
c.861C>T | r.(861c>u) | p.(=) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 5
|
c.868A>G | r.(868a>g) | p.(Asn290Asp) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 5
|
c.871C>T | r.(871c>u) | p.(Leu291Phe) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.872T>A | r.(872u>a) | p.(Leu291His) | Less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.872T>C | r.(872u>c) | p.(Leu291Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.875A>G | r.(875a>g) | p.(Tyr292Cys) | Potentially mild | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.876C>G | r.(876c>g) | p.(Tyr292*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 5
|
c.877G>A | r.(877g>a) | p.(Gly293Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.878G>T | r.(878g>u) | p.(Gly293Val) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.883C>A | r.(883c>a) | p.(His295Asn) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.885C>G | r.(885c>g) | p.(His295Gln) | Potentially mild | Adult | Unknown | ||
| Variant info |
exon 5
|
c.893A>C | r.(893a>c) | p.(Tyr298Ser) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.896T>G | r.(896u>g) | p.(Leu299Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.896T>C | r.(896u>c) | p.(Leu299Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.915G>A | r.(915g>a) | p.(=) | Non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.917C>T | r.(917c>u) | p.(Ser306Leu) | Presumably non-pathogenic | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.921A>T | r.921a>u | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 5
|
c.923A>C | r.(923a>c) | p.(His308Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.923A>T | r.(923a>u) | p.(His308Leu) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.925G>A | r.(925g>a) | p.(Gly309Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.929T>G | r.(929u>g) | p.(Val310Gly) | Less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.930_932del | r.(930_932del) | p.(Phe311del) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.935T>G | r.(935u>g) | p.(Leu312Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.942C>A | r.(942c>a) | p.Asn314Lys | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.947A>T | r.(947a>u) | p.(Asn316Ile) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 5
|
c.947A>G | r.(947a>g) | p.(Asn316Ser) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.950C>T | r.(950c>u) | p.(Ala317Val) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 5
|
c.953T>C | r.(953u>c) | p.(Met318Thr) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 5
|
c.953T>A | r.(953u>a) | p.(Met318Lys) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 5
|
c.955_955+1ins21 | r.[(955_956ins21), (spl?)] | p.? | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 5
|
c.955+1G>A | r.spl | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
intron 5
|
c.955+155C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.955+167C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.956-107G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.955+2T>G | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 5
|
c.955+12G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 5
|
c.956-84C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 6
|
c.971C>T | r.(971c>u) | p.(Pro324Leu) | Less severe | Childhood | Positive | ||
| Variant info |
exon 6
|
c.971dup | r.(971dup) | p.(Pro324Argfs*68) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 6
|
c.982_988del | r.(982_988del) | p.(Leu328Glyfs*62) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 6
|
c.983T>C | r.(983u>c) | p.(Leu328Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.988T>G | r.(988u>g) | p.(Trp330Gly) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.989G>A | r.(989g>a) | p.(Trp330*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.994_995insTT | r.(994_995insuu) | p.(Ser332Phefs*61) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.998C>A | r.(998c>a) | p.(Thr333Lys) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.1000G>A | r.(1000g>a) | p.(Gly334Ser) | Unknown | Childhood | Positive | ||
| Variant info |
exon 6
|
c.1000G>T | r.(1000g>u) | p.(Gly334Ser) | potentially less severe | Classic infantile | Unknown | ||
| Variant info |
exon 6
|
c.1003G>A | r.(1003g>a) | p.(Gly335Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 6
|
c.1004G>A | r.(1004g>a ) | p.(Gly335Glu) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1004_1005dup | r.(1004_1005dup) | p.(Ile336Glyfs*57) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1040C>G | r.(1040c>g) | p.(Pro347Arg) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1047del | r.(1047del) | p.(Ser349Argfs*43) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1048G>A | r.(1048g>a) | p.(Val350Met) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1051del | r.(1051del) | p.(Val351Cysfs*41) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1054C>T | r.(1054c>u) | p.(Gln352*) | very severe | Unknown (found only in NBS) | Negative | ||
| Variant info |
exon 6
|
c.1057C>T | r.(1057c>u) | p.(Gln353*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1057del | r.(1057del) | p.(Gln353Serfs*39) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 6
|
c.1062C>G | r.(1062c>g) | p.(Tyr354*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 6
|
c.1064T>C | r.(1064u>c) | p.(Leu355Pro) | Potentially less severe | Classic infantile or Childhood | Positive | ||
| Variant info |
exon 6
|
c.1075G>A | r.[1075g>a, 1072_1075del] | p.[(Gly359Arg), (Val358Aspfs*33)] | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 6
|
c.1075G>T | r.[(1075g>u), r.(spl?)] | p.[(Ily359*), p.?] | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 6
|
c.1075+13C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 6
|
c.1076-22T>G | r.(spl?) | p.? | Potentially mild | Childhood | Unknown | ||
| Variant info |
intron 6
|
c.1076-1G>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 6
|
c.1076-1G>C | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 7
|
c.1080C>G | r.(1080c>g) | p.(Tyr360*) | Very severe | Unknown (found only in NBS) | Negative | ||
| Variant info |
exon 7
|
c.1082C>T | r.(1082c>u) | p.(Pro361Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1082C>A | r.(1082c>a) | p.(Pro361Arg) | potentially less severe | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 7
|
c.1099T>C | r.(1099u>c) | p.(Trp367Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1099T>G | r.(1099u>g) | p.(Trp367Gly) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1100G>A | r.(1100g>a) | p.(Trp367*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1101G>A | r.(1101g>a) | p.(Trp367*) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 7
|
c.1106T>C | r.(1106u>c) | p.(Leu369Pro) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1106T>A | r.(1106u>a) | p.(Leu369Gln) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1108G>A | r.(1108g>a) | p.(Gly370Ser) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1109G>A | r.(1109g>a) | p.(Gly370Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1114C>G | r.(1114c>g) | p.(His372Asp) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1114C>T | r.(1114c>u) | p.(His372Tyr) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1115A>T | r.(1115a>u) | p.(His372Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1118T>G | r.(1118u>g ) | p.(Leu373Arg) | Unknown | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 7
|
c.1120T>C | r.(1120u>c) | p.(Cys374Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1121G>A | r.(1121g>a) | p.(Cys374Tyr) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1124G>T | r.(1124g>u) | p.(Arg375Leu) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1124G>A | r.(1124g>a) | p.(Arg375His) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1127_1130del | r.(1127_1130del) | p.(Trp376Serfs*15) | very severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1128_1129delinsC | r.(1128_1129delinsc) | p.(Trp376Cysfs*16) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 7
|
c.1129G>C | r.(1129g>c) | p.(Gly377Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 7
|
c.1129G>A | r.(1129g>a) | p.(Gly377Ser) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1134C>G | r.(1134c>g) | p.(Tyr378*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1143del | r.(1143del) | p.(Ala382Leufs*10) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1153del | r.(1153del) | p.(Arg385Alafs*7) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1156C>T | r.(1156c>u) | p.(Gln386*) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1157dup | r.(1157dup) | p.(Val387Glyfs*119) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 7
|
c.1165del | r.(1165del) | p.(Glu389Argfs*3) | Very severe | Classic infantile or Childhood | Negative | ||
| Variant info |
exon 7
|
c.1171A>G | r.(1171a>g) | p.(Met391Val) | Presumably non-pathogenic | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 7
|
c.1190C>T | r.(1190c>u) | p.(Pro397Leu) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 7
|
c.1192dup | r.(1192dup) | p.(Leu398Profs*108) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 7
|
c.1192del | r.(1192del) | p.(Leu398Trpfs*42) | very severe | Unknown (disease-associated) | |||
| Variant info |
exon 7
|
c.1193del | r.(1193del) | p.(Leu398Argfs*42) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
intron 7
|
c.1194+2T>A | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 7
|
c.1194+2T>C | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
intron 7
|
c.1194+5G>A | r.(spl?) | p.? | less severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
intron 7
|
c.1195-44C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 7
|
c.1195-19_2190-20del | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
intron 7
|
c.1195-15G>A | r.(=) | p.? | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
intron 7
|
c.1195-8G>A | r.(spl?) | p.? | Unknown | Childhood or Adult | Unknown | ||
| Variant info |
intron 7
|
c.1195-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 8
|
c.1199_1210del | r.(1199_1210del) | p.(Val400_Asn403del) | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 8
|
c.1201C>A | r.(1201c>a) | p.(Gln401Lys) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1202A>G | r.(1202a>g) | p.(Gln401Arg) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1203G>A | r.1203g>a | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 8
|
c.1204T>C | r.(1204u>c) | p.(Trp402Arg) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 8
|
c.1209C>G | r.(1209c>g) | p.(Asn403Lys) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1209C>A | r.(1209c>a) | p.(Asn403Lys) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1209del | r.(1209del) | p.(Asn403Lysfs*37) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1210G>A | r.(1210g>a) | p.(Asp404Asn) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1211A>G | r.(1211a>g) | p.(Asp404Gly) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1211A>C | r.(1211a>c) | p.(Asp404Ala) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1211A>T | r.(1211a>u) | p.(Asp404Val) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1212C>G | r.(1212c>g) | p.(Asp404Glu) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1214T>C | r.(1214u>c) | p.(Leu405Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1216G>A | r.(1216g>a) | p.(Asp406Asn) | potentially less severe | Childhood | Positive | ||
| Variant info |
exon 8
|
c.1219T>C | r.(1219u>c) | p.(Tyr407His) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1220A>G | r.(1220a>g) | p.(Tyr407Cys) | potentially less severe | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 8
|
c.1221C>A | r.(1221c>a) | p.(Tyr407*) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1221del | r.1221del | p.(Tyr407*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 8
|
c.1222A>G | r.(1222a>g) | p.(Met408Val) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1226_1227insG | r.(1226_1227insg) | p.(Asp409Glufs*97) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1229C>T | r.(1229c>u) | p.(Ser410Phe) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 8
|
c.1231del | r.(1231del) | p.(Arg411Glyfs*29) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 8
|
c.1239C>G | r.(1239c>g) | p.(Asp413Glu) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1240T>C | r.(1240u>c) | p.(Phe414Leu) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1241del | r.(1241del) | p.(Phe414Serfs*26) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1242C>A | r.(1242c>a) | p.(Phe414Leu) | potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1244C>T | r.(1244c>u) | p.(Thr415Met) | potentially less severe | Unknown (found only in NBS) | Positive | ||
| Variant info |
exon 8
|
c.1249A>C | r.(1249a>c) | p.(Asn417His) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1256A>T | r.1256a>u | p.(Asp419Val) | Potentially mild | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1280T>C | r.(1280u>c) | p.(Met427Thr) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1281G>T | r.(1281g>u) | p.(Met427Ile) | potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1286A>G | r.(1286a>g) | p.(Gln429Arg) | Unknown | Unknown | Positive | ||
| Variant info |
exon 8
|
c.1291_1299del | r.(1291_1299del) | p.(Leu431_Gln433del) | Potentially less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1292_1295dup | r.(1292_1295dup) | p.(Gln433Alafs*74) | very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1293_1326+57del | r.? | p.? | very severe | Unknown (disease-associated) | Unknown | ||
| Variant info |
exon 8
|
c.1293_1312del | r.(1293_1312del) | p.(Gln433Aspfs*66) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1297C>A | r.(1297c>a) | p.(Gln433Lys) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1298A>C | r.(1298a>c) | p.(Gln433Pro) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1309C>T | r.(1309c>u) | p.(Arg437Cys) | Less severe | Childhood | Positive | ||
| Variant info |
exon 8
|
c.1310G>A | r.(1310g>a) | p.(Arg437His) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 8
|
c.1311_1312ins(26) | r.spl | p.? | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 8
|
c.1316T>A | r.(1316u>a) | p.(Met439Lys) | Potentially mild | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1320_1322del | r.(1320_1322del) | p.(Met440del) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 8
|
c.1322_1326+9del | r.spl | p.? | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 8
|
c.1324G>A | r.(1324g>a) | p.(Val442Met) | Unknown | Unknown (found only in NBS) | Positive | ||
| Variant info |
intron 8
|
c.1326+1G>A | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
intron 8
|
c.1326+5G>A | r.(spl?) | p.? | Unknown | Unknown | Unknown | ||
| Variant info |
intron 8
|
c.1326+132G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1326+459C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1326+460G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-514G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-356G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-321del | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-269A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-209C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-179G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-118A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-54_1437+178del | r.1327_1437del | p.? | very severe | Classic infantile | Positive | ||
| Variant info |
intron 8
|
c.1327-18A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | ||
| Variant info |
intron 8
|
c.1327-2A>G | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
intron 8
|
c.1327-2A>C | r.spl | p.? | Very severe | Classic infantile | Unknown | ||
| Variant info |
exon 9
|
c.1331C>G | r.(1331c>g) | p.(Pro444Arg) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 9
|
c.1333G>C | r.(1333g>c) | p.(Ala445Pro) | Potentially less severe | Childhood | Positive | ||
| Variant info |
exon 9
|
c.1354_1372del | r.(1354_1372del) | p.(Ala452Thrfs*19) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 9
|
c.1356del | r.(1356del) | p.(Ser454Alafs*23) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 9
|
c.1358_1361del | r.(1358_1361del) | p.(Gly453Alafs*23) | very severe | Classic infantile | Unknown | ||
| Variant info |
exon 9
|
c.1364A>C | r.(1364a>c) | p.(Tyr455Cys) | Unknown | Childhood | Positive | ||
| Variant info |
exon 9
|
c.1364A>T | r.(1364a>u) | p.(Tyr455Phe) | Less severe | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 9
|
c.1370C>T | r.(1370c>u) | p.(Pro457Leu) | Potentially mild | Childhood | Positive | ||
| Variant info |
exon 9
|
c.1370C>A | r.(1370c>a) | p.(Pro457His) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 9
|
c.1371del | r.(1371del) | p.(Tyr458Thrfs*19) | Very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 9
|
c.1373A>G | r.(1373a>g) | p.(Tyr458Cys) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 9
|
c.1374C>T | r.1374c>u | p.(=) | Non-pathogenic | Unknown | Positive | ||
| Variant info |
exon 9
|
c.1375G>A | r.(1375g>a) | p.(Asp459Asn) | Unknown | Unknown (disease-associated) | Positive | ||
| Variant info |
exon 9
|
c.1377_1379del | r.(1377_1379del) | p.(Asp459del) | Very severe | Classic infantile | Positive | ||
| Variant info |
exon 9
|
c.1378G>T | r.(1378g>u) | p.(Glu460*) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 9
|
c.1381G>A | r.(1381g>a) | p.(Gly461Ser) | Potentially less severe | Unknown | Positive | ||
| Variant info |
exon 9
|
c.1385T>C | r.(1385u>c) | p.(Leu462Pro) | Unknown | Classic infantile | Positive | ||
| Variant info |
exon 9
|
c.1388_1406del | r.(1388_1406del) | p.(Arg463Profs*8) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 9
|
c.1396del | r.(1396del) | p.(Val466Phefs*11) | Very severe | Classic infantile | Negative | ||
| Variant info |
exon 9
|
c.1396dup | r.(1396dup) | p.(Val466Glyfs*40) | very severe | Unknown (disease-associated) | Negative | ||
| Variant info |
exon 9
|
c.1396G>T | r.(1396g>u) | p.(Val466Phe) | Potentially less severe | Classic infantile | Positive | ||
| Variant info |
exon 9
|
c.1397T>G | r.(1397u>g) | p.(Val466Gly) | Unknown |