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