Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71611240T>C | CA892650965 | DYSF | c.1372-5T>C (n.1372-5T>C) c.589-5T>C (n.589-5T>C) c.547-5T>C (n.547-5T>C) c.3904-5T>C (n.3904-5T>C) c.3958-5T>C (n.3958-5T>C) c.3907-5T>C (n.3907-5T>C) c.3955-5T>C (n.3955-5T>C) c.4000-5T>C (n.4000-5T>C) c.3865-5T>C (n.3865-5T>C) c.3997-5T>C (n.3997-5T>C) n.140-5T>C n.288-5T>C n.789-5T>C n.123-5T>C n.264-5T>C c.3862-5T>C (n.3862-5T>C) n.4158-5T>C | ClinVar dbSNP |
2 | g.71611240T>G | CA1706828 | DYSF | c.1372-5T>G (n.1372-5T>G) c.589-5T>G (n.589-5T>G) c.547-5T>G (n.547-5T>G) c.3904-5T>G (n.3904-5T>G) c.3958-5T>G (n.3958-5T>G) c.3907-5T>G (n.3907-5T>G) c.3955-5T>G (n.3955-5T>G) c.4000-5T>G (n.4000-5T>G) c.3865-5T>G (n.3865-5T>G) c.3997-5T>G (n.3997-5T>G) n.140-5T>G n.288-5T>G n.789-5T>G n.123-5T>G n.264-5T>G c.3862-5T>G (n.3862-5T>G) n.4158-5T>G | dbSNP ExAC gnomAD v2 |
2 | g.71611240T= | CA1260123998 | DYSF | c.1372-5T= (n.1372-5T=) c.589-5T= (n.589-5T=) c.547-5T= (n.547-5T=) c.3904-5T= (n.3904-5T=) c.3958-5T= (n.3958-5T=) c.3907-5T= (n.3907-5T=) c.3955-5T= (n.3955-5T=) c.4000-5T= (n.4000-5T=) c.3865-5T= (n.3865-5T=) c.3997-5T= (n.3997-5T=) n.140-5T= n.288-5T= n.789-5T= n.123-5T= n.264-5T= c.3862-5T= (n.3862-5T=) n.4158-5T= | |
2 | g.71611242C>A | CA2659553219 | DYSF | c.1372-3C>A (n.1372-3C>A) c.589-3C>A (n.589-3C>A) c.547-3C>A (n.547-3C>A) c.3904-3C>A (n.3904-3C>A) c.3958-3C>A (n.3958-3C>A) c.3907-3C>A (n.3907-3C>A) c.3955-3C>A (n.3955-3C>A) c.4000-3C>A (n.4000-3C>A) c.3865-3C>A (n.3865-3C>A) c.3997-3C>A (n.3997-3C>A) n.140-3C>A n.288-3C>A n.789-3C>A n.123-3C>A n.264-3C>A c.3862-3C>A (n.3862-3C>A) n.4158-3C>A | gnomAD v4 |
2 | g.71611242C>T | CA2659553220 | DYSF | c.1372-3C>T (n.1372-3C>T) c.589-3C>T (n.589-3C>T) c.547-3C>T (n.547-3C>T) c.3904-3C>T (n.3904-3C>T) c.3958-3C>T (n.3958-3C>T) c.3907-3C>T (n.3907-3C>T) c.3955-3C>T (n.3955-3C>T) c.4000-3C>T (n.4000-3C>T) c.3865-3C>T (n.3865-3C>T) c.3997-3C>T (n.3997-3C>T) n.140-3C>T n.288-3C>T n.789-3C>T n.123-3C>T n.264-3C>T c.3862-3C>T (n.3862-3C>T) n.4158-3C>T | gnomAD v4 |
2 | g.71611243A>C | CA347227965 | DYSF | c.1372-2A>C (n.1372-2A>C) c.589-2A>C (n.589-2A>C) c.547-2A>C (n.547-2A>C) c.3904-2A>C (n.3904-2A>C) c.3958-2A>C (n.3958-2A>C) c.3907-2A>C (n.3907-2A>C) c.3955-2A>C (n.3955-2A>C) c.4000-2A>C (n.4000-2A>C) c.3865-2A>C (n.3865-2A>C) c.3997-2A>C (n.3997-2A>C) n.140-2A>C n.288-2A>C n.789-2A>C n.123-2A>C n.264-2A>C c.3862-2A>C (n.3862-2A>C) n.4158-2A>C | |
2 | g.71611243A>G | CA347227969 | DYSF | c.1372-2A>G (n.1372-2A>G) c.589-2A>G (n.589-2A>G) c.547-2A>G (n.547-2A>G) c.3904-2A>G (n.3904-2A>G) c.3958-2A>G (n.3958-2A>G) c.3907-2A>G (n.3907-2A>G) c.3955-2A>G (n.3955-2A>G) c.4000-2A>G (n.4000-2A>G) c.3865-2A>G (n.3865-2A>G) c.3997-2A>G (n.3997-2A>G) n.140-2A>G n.288-2A>G n.789-2A>G n.123-2A>G n.264-2A>G c.3862-2A>G (n.3862-2A>G) n.4158-2A>G | |
2 | g.71611243A>T | CA347227971 | DYSF | c.1372-2A>T (n.1372-2A>T) c.589-2A>T (n.589-2A>T) c.547-2A>T (n.547-2A>T) c.3904-2A>T (n.3904-2A>T) c.3958-2A>T (n.3958-2A>T) c.3907-2A>T (n.3907-2A>T) c.3955-2A>T (n.3955-2A>T) c.4000-2A>T (n.4000-2A>T) c.3865-2A>T (n.3865-2A>T) c.3997-2A>T (n.3997-2A>T) n.140-2A>T n.288-2A>T n.789-2A>T n.123-2A>T n.264-2A>T c.3862-2A>T (n.3862-2A>T) n.4158-2A>T | |
2 | g.71611244G>A | CA347227973 | DYSF | c.1372-1G>A (n.1372-1G>A) c.589-1G>A (n.589-1G>A) c.547-1G>A (n.547-1G>A) c.3904-1G>A (n.3904-1G>A) c.3958-1G>A (n.3958-1G>A) c.3907-1G>A (n.3907-1G>A) c.3955-1G>A (n.3955-1G>A) c.4000-1G>A (n.4000-1G>A) c.3865-1G>A (n.3865-1G>A) c.3997-1G>A (n.3997-1G>A) n.140-1G>A n.288-1G>A n.789-1G>A n.123-1G>A n.264-1G>A c.3862-1G>A (n.3862-1G>A) n.4158-1G>A | ClinVar |
2 | g.71611244G>C | CA347227976 | DYSF | c.1372-1G>C (n.1372-1G>C) c.589-1G>C (n.589-1G>C) c.547-1G>C (n.547-1G>C) c.3904-1G>C (n.3904-1G>C) c.3958-1G>C (n.3958-1G>C) c.3907-1G>C (n.3907-1G>C) c.3955-1G>C (n.3955-1G>C) c.4000-1G>C (n.4000-1G>C) c.3865-1G>C (n.3865-1G>C) c.3997-1G>C (n.3997-1G>C) n.140-1G>C n.288-1G>C n.789-1G>C n.123-1G>C n.264-1G>C c.3862-1G>C (n.3862-1G>C) n.4158-1G>C | |
2 | g.71611244G>T | CA347227979 | DYSF | c.1372-1G>T (n.1372-1G>T) c.589-1G>T (n.589-1G>T) c.547-1G>T (n.547-1G>T) c.3904-1G>T (n.3904-1G>T) c.3958-1G>T (n.3958-1G>T) c.3907-1G>T (n.3907-1G>T) c.3955-1G>T (n.3955-1G>T) c.4000-1G>T (n.4000-1G>T) c.3865-1G>T (n.3865-1G>T) c.3997-1G>T (n.3997-1G>T) n.140-1G>T n.288-1G>T n.789-1G>T n.123-1G>T n.264-1G>T c.3862-1G>T (n.3862-1G>T) n.4158-1G>T | |
2 | g.71611245T>A | CA347227984 | DYSF | c.1372T>A (p.Ser458Thr) c.589T>A (p.Ser197Thr) c.547T>A (p.Ser183Thr) c.3904T>A (p.Ser1302Thr) c.3958T>A (p.Ser1320Thr) c.3907T>A (p.Ser1303Thr) c.3955T>A (p.Ser1319Thr) c.4000T>A (p.Ser1334Thr) c.3865T>A (p.Ser1289Thr) c.3997T>A (p.Ser1333Thr) n.140T>A n.288T>A n.789T>A n.123T>A n.264T>A c.3862T>A (p.Ser1288Thr) n.4158T>A | |
2 | g.71611245T>C | CA244883 | DYSF | c.1372T>C (p.Ser458Pro) c.589T>C (p.Ser197Pro) c.547T>C (p.Ser183Pro) c.3904T>C (p.Ser1302Pro) c.3958T>C (p.Ser1320Pro) c.3907T>C (p.Ser1303Pro) c.3955T>C (p.Ser1319Pro) c.4000T>C (p.Ser1334Pro) c.3865T>C (p.Ser1289Pro) c.3997T>C (p.Ser1333Pro) n.140T>C n.288T>C n.789T>C n.123T>C n.264T>C c.3862T>C (p.Ser1288Pro) n.4158T>C | ClinVar dbSNP |
2 | g.71611245T>G | CA347227983 | DYSF | c.1372T>G (p.Ser458Ala) c.589T>G (p.Ser197Ala) c.547T>G (p.Ser183Ala) c.3904T>G (p.Ser1302Ala) c.3958T>G (p.Ser1320Ala) c.3907T>G (p.Ser1303Ala) c.3955T>G (p.Ser1319Ala) c.4000T>G (p.Ser1334Ala) c.3865T>G (p.Ser1289Ala) c.3997T>G (p.Ser1333Ala) n.140T>G n.288T>G n.789T>G n.123T>G n.264T>G c.3862T>G (p.Ser1288Ala) n.4158T>G | |
2 | g.71611245T= | CA1260123999 | DYSF | c.1372T= (p.Ser458=) c.589T= (p.Ser197=) c.547T= (p.Ser183=) c.3904T= (p.Ser1302=) c.3958T= (p.Ser1320=) c.3907T= (p.Ser1303=) c.3955T= (p.Ser1319=) c.4000T= (p.Ser1334=) c.3865T= (p.Ser1289=) c.3997T= (p.Ser1333=) n.140T= n.288T= n.789T= n.123T= n.264T= c.3862T= (p.Ser1288=) n.4158T= | |
2 | g.71611246C>A | CA347227988 | DYSF | c.1373C>A (p.Ser458Tyr) c.590C>A (p.Ser197Tyr) c.548C>A (p.Ser183Tyr) c.3905C>A (p.Ser1302Tyr) c.3959C>A (p.Ser1320Tyr) c.3908C>A (p.Ser1303Tyr) c.3956C>A (p.Ser1319Tyr) c.4001C>A (p.Ser1334Tyr) c.3866C>A (p.Ser1289Tyr) c.3998C>A (p.Ser1333Tyr) n.141C>A n.289C>A n.790C>A n.124C>A n.265C>A c.3863C>A (p.Ser1288Tyr) n.4159C>A | gnomAD v4 |
2 | g.71611246C= | CA1260124000 | DYSF | c.1373C= (p.Ser458=) c.590C= (p.Ser197=) c.548C= (p.Ser183=) c.3905C= (p.Ser1302=) c.3959C= (p.Ser1320=) c.3908C= (p.Ser1303=) c.3956C= (p.Ser1319=) c.4001C= (p.Ser1334=) c.3866C= (p.Ser1289=) c.3998C= (p.Ser1333=) n.141C= n.289C= n.790C= n.124C= n.265C= c.3863C= (p.Ser1288=) n.4159C= | |
2 | g.71611246C>G | CA347227990 | DYSF | c.1373C>G (p.Ser458Cys) c.590C>G (p.Ser197Cys) c.548C>G (p.Ser183Cys) c.3905C>G (p.Ser1302Cys) c.3959C>G (p.Ser1320Cys) c.3908C>G (p.Ser1303Cys) c.3956C>G (p.Ser1319Cys) c.4001C>G (p.Ser1334Cys) c.3866C>G (p.Ser1289Cys) c.3998C>G (p.Ser1333Cys) n.141C>G n.289C>G n.790C>G n.124C>G n.265C>G c.3863C>G (p.Ser1288Cys) n.4159C>G | COSMIC COSMIC |
2 | g.71611246C>T | CA347227992 | DYSF | c.1373C>T (p.Ser458Phe) c.590C>T (p.Ser197Phe) c.548C>T (p.Ser183Phe) c.3905C>T (p.Ser1302Phe) c.3959C>T (p.Ser1320Phe) c.3908C>T (p.Ser1303Phe) c.3956C>T (p.Ser1319Phe) c.4001C>T (p.Ser1334Phe) c.3866C>T (p.Ser1289Phe) c.3998C>T (p.Ser1333Phe) n.141C>T n.289C>T n.790C>T n.124C>T n.265C>T c.3863C>T (p.Ser1288Phe) n.4159C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71611247T>A | CA426702599 | DYSF | c.1374T>A (p.Ser458=) c.591T>A (p.Ser197=) c.549T>A (p.Ser183=) c.3906T>A (p.Ser1302=) c.3960T>A (p.Ser1320=) c.3909T>A (p.Ser1303=) c.3957T>A (p.Ser1319=) c.4002T>A (p.Ser1334=) c.3867T>A (p.Ser1289=) c.3999T>A (p.Ser1333=) n.142T>A n.290T>A n.791T>A n.125T>A n.266T>A c.3864T>A (p.Ser1288=) n.4160T>A | |
2 | g.71611247T>C | CA426702600 | DYSF | c.1374T>C (p.Ser458=) c.591T>C (p.Ser197=) c.549T>C (p.Ser183=) c.3906T>C (p.Ser1302=) c.3960T>C (p.Ser1320=) c.3909T>C (p.Ser1303=) c.3957T>C (p.Ser1319=) c.4002T>C (p.Ser1334=) c.3867T>C (p.Ser1289=) c.3999T>C (p.Ser1333=) n.142T>C n.290T>C n.791T>C n.125T>C n.266T>C c.3864T>C (p.Ser1288=) n.4160T>C | |
2 | g.71611247T>G | CA426702601 | DYSF | c.1374T>G (p.Ser458=) c.591T>G (p.Ser197=) c.549T>G (p.Ser183=) c.3906T>G (p.Ser1302=) c.3960T>G (p.Ser1320=) c.3909T>G (p.Ser1303=) c.3957T>G (p.Ser1319=) c.4002T>G (p.Ser1334=) c.3867T>G (p.Ser1289=) c.3999T>G (p.Ser1333=) n.142T>G n.290T>G n.791T>G n.125T>G n.266T>G c.3864T>G (p.Ser1288=) n.4160T>G | |
2 | g.71611248G>A | CA347227995 | DYSF | c.1375G>A (p.Glu459Lys) c.592G>A (p.Glu198Lys) c.550G>A (p.Glu184Lys) c.3907G>A (p.Glu1303Lys) c.3961G>A (p.Glu1321Lys) c.3910G>A (p.Glu1304Lys) c.3958G>A (p.Glu1320Lys) c.4003G>A (p.Glu1335Lys) c.3868G>A (p.Glu1290Lys) c.4000G>A (p.Glu1334Lys) n.143G>A n.291G>A n.792G>A n.126G>A n.267G>A c.3865G>A (p.Glu1289Lys) n.4161G>A | |
2 | g.71611248G>C | CA347227996 | DYSF | c.1375G>C (p.Glu459Gln) c.592G>C (p.Glu198Gln) c.550G>C (p.Glu184Gln) c.3907G>C (p.Glu1303Gln) c.3961G>C (p.Glu1321Gln) c.3910G>C (p.Glu1304Gln) c.3958G>C (p.Glu1320Gln) c.4003G>C (p.Glu1335Gln) c.3868G>C (p.Glu1290Gln) c.4000G>C (p.Glu1334Gln) n.143G>C n.291G>C n.792G>C n.126G>C n.267G>C c.3865G>C (p.Glu1289Gln) n.4161G>C | |
2 | g.71611248G>T | CA347227998 | DYSF | c.1375G>T (p.Glu459Ter) c.592G>T (p.Glu198Ter) c.550G>T (p.Glu184Ter) c.3907G>T (p.Glu1303Ter) c.3961G>T (p.Glu1321Ter) c.3910G>T (p.Glu1304Ter) c.3958G>T (p.Glu1320Ter) c.4003G>T (p.Glu1335Ter) c.3868G>T (p.Glu1290Ter) c.4000G>T (p.Glu1334Ter) n.143G>T n.291G>T n.792G>T n.126G>T n.267G>T c.3865G>T (p.Glu1289Ter) n.4161G>T | |
2 | g.71611249A>C | CA347228000 | DYSF | c.1376A>C (p.Glu459Ala) c.593A>C (p.Glu198Ala) c.551A>C (p.Glu184Ala) c.3908A>C (p.Glu1303Ala) c.3962A>C (p.Glu1321Ala) c.3911A>C (p.Glu1304Ala) c.3959A>C (p.Glu1320Ala) c.4004A>C (p.Glu1335Ala) c.3869A>C (p.Glu1290Ala) c.4001A>C (p.Glu1334Ala) n.144A>C n.292A>C n.793A>C n.127A>C n.268A>C c.3866A>C (p.Glu1289Ala) n.4162A>C | |
2 | g.71611249A>G | CA347228001 | DYSF | c.1376A>G (p.Glu459Gly) c.593A>G (p.Glu198Gly) c.551A>G (p.Glu184Gly) c.3908A>G (p.Glu1303Gly) c.3962A>G (p.Glu1321Gly) c.3911A>G (p.Glu1304Gly) c.3959A>G (p.Glu1320Gly) c.4004A>G (p.Glu1335Gly) c.3869A>G (p.Glu1290Gly) c.4001A>G (p.Glu1334Gly) n.144A>G n.292A>G n.793A>G n.127A>G n.268A>G c.3866A>G (p.Glu1289Gly) n.4162A>G | |
2 | g.71611249A>T | CA347228003 | DYSF | c.1376A>T (p.Glu459Val) c.593A>T (p.Glu198Val) c.551A>T (p.Glu184Val) c.3908A>T (p.Glu1303Val) c.3962A>T (p.Glu1321Val) c.3911A>T (p.Glu1304Val) c.3959A>T (p.Glu1320Val) c.4004A>T (p.Glu1335Val) c.3869A>T (p.Glu1290Val) c.4001A>T (p.Glu1334Val) n.144A>T n.292A>T n.793A>T n.127A>T n.268A>T c.3866A>T (p.Glu1289Val) n.4162A>T | |
2 | g.71611250G>A | CA426702602 | DYSF | c.1377G>A (p.Glu459=) c.594G>A (p.Glu198=) c.552G>A (p.Glu184=) c.3909G>A (p.Glu1303=) c.3963G>A (p.Glu1321=) c.3912G>A (p.Glu1304=) c.3960G>A (p.Glu1320=) c.4005G>A (p.Glu1335=) c.3870G>A (p.Glu1290=) c.4002G>A (p.Glu1334=) n.145G>A n.293G>A n.794G>A n.128G>A n.269G>A c.3867G>A (p.Glu1289=) n.4163G>A | |
2 | g.71611250G>C | CA347228005 | DYSF | c.1377G>C (p.Glu459Asp) c.594G>C (p.Glu198Asp) c.552G>C (p.Glu184Asp) c.3909G>C (p.Glu1303Asp) c.3963G>C (p.Glu1321Asp) c.3912G>C (p.Glu1304Asp) c.3960G>C (p.Glu1320Asp) c.4005G>C (p.Glu1335Asp) c.3870G>C (p.Glu1290Asp) c.4002G>C (p.Glu1334Asp) n.145G>C n.293G>C n.794G>C n.128G>C n.269G>C c.3867G>C (p.Glu1289Asp) n.4163G>C | gnomAD v4 |
2 | g.71611250G>T | CA347228007 | DYSF | c.1377G>T (p.Glu459Asp) c.594G>T (p.Glu198Asp) c.552G>T (p.Glu184Asp) c.3909G>T (p.Glu1303Asp) c.3963G>T (p.Glu1321Asp) c.3912G>T (p.Glu1304Asp) c.3960G>T (p.Glu1320Asp) c.4005G>T (p.Glu1335Asp) c.3870G>T (p.Glu1290Asp) c.4002G>T (p.Glu1334Asp) n.145G>T n.293G>T n.794G>T n.128G>T n.269G>T c.3867G>T (p.Glu1289Asp) n.4163G>T | COSMIC COSMIC |
2 | g.71611251G>A | CA347228013 | DYSF | c.1378G>A (p.Asp460Asn) c.595G>A (p.Asp199Asn) c.553G>A (p.Asp185Asn) c.3910G>A (p.Asp1304Asn) c.3964G>A (p.Asp1322Asn) c.3913G>A (p.Asp1305Asn) c.3961G>A (p.Asp1321Asn) c.4006G>A (p.Asp1336Asn) c.3871G>A (p.Asp1291Asn) c.4003G>A (p.Asp1335Asn) n.146G>A n.294G>A n.795G>A n.129G>A n.270G>A c.3868G>A (p.Asp1290Asn) n.4164G>A | |
2 | g.71611251G>C | CA347228017 | DYSF | c.1378G>C (p.Asp460His) c.595G>C (p.Asp199His) c.553G>C (p.Asp185His) c.3910G>C (p.Asp1304His) c.3964G>C (p.Asp1322His) c.3913G>C (p.Asp1305His) c.3961G>C (p.Asp1321His) c.4006G>C (p.Asp1336His) c.3871G>C (p.Asp1291His) c.4003G>C (p.Asp1335His) n.146G>C n.294G>C n.795G>C n.129G>C n.270G>C c.3868G>C (p.Asp1290His) n.4164G>C | |
2 | g.71611251G>T | CA347228010 | DYSF | c.1378G>T (p.Asp460Tyr) c.595G>T (p.Asp199Tyr) c.553G>T (p.Asp185Tyr) c.3910G>T (p.Asp1304Tyr) c.3964G>T (p.Asp1322Tyr) c.3913G>T (p.Asp1305Tyr) c.3961G>T (p.Asp1321Tyr) c.4006G>T (p.Asp1336Tyr) c.3871G>T (p.Asp1291Tyr) c.4003G>T (p.Asp1335Tyr) n.146G>T n.294G>T n.795G>T n.129G>T n.270G>T c.3868G>T (p.Asp1290Tyr) n.4164G>T | |
2 | g.71611252A>C | CA347228020 | DYSF | c.1379A>C (p.Asp460Ala) c.596A>C (p.Asp199Ala) c.554A>C (p.Asp185Ala) c.3911A>C (p.Asp1304Ala) c.3965A>C (p.Asp1322Ala) c.3914A>C (p.Asp1305Ala) c.3962A>C (p.Asp1321Ala) c.4007A>C (p.Asp1336Ala) c.3872A>C (p.Asp1291Ala) c.4004A>C (p.Asp1335Ala) n.147A>C n.295A>C n.796A>C n.130A>C n.271A>C c.3869A>C (p.Asp1290Ala) n.4165A>C | |
2 | g.71611252A>G | CA347228021 | DYSF | c.1379A>G (p.Asp460Gly) c.596A>G (p.Asp199Gly) c.554A>G (p.Asp185Gly) c.3911A>G (p.Asp1304Gly) c.3965A>G (p.Asp1322Gly) c.3914A>G (p.Asp1305Gly) c.3962A>G (p.Asp1321Gly) c.4007A>G (p.Asp1336Gly) c.3872A>G (p.Asp1291Gly) c.4004A>G (p.Asp1335Gly) n.147A>G n.295A>G n.796A>G n.130A>G n.271A>G c.3869A>G (p.Asp1290Gly) n.4165A>G | |
2 | g.71611252A>T | CA347228022 | DYSF | c.1379A>T (p.Asp460Val) c.596A>T (p.Asp199Val) c.554A>T (p.Asp185Val) c.3911A>T (p.Asp1304Val) c.3965A>T (p.Asp1322Val) c.3914A>T (p.Asp1305Val) c.3962A>T (p.Asp1321Val) c.4007A>T (p.Asp1336Val) c.3872A>T (p.Asp1291Val) c.4004A>T (p.Asp1335Val) n.147A>T n.295A>T n.796A>T n.130A>T n.271A>T c.3869A>T (p.Asp1290Val) n.4165A>T | gnomAD v4 |
2 | g.71611255_71611256dup | CA2659553221 | DYSF | c.1382_1383dup (p.Asp462GlnfsTer?) c.599_600dup (p.Asp201GlnfsTer?) c.557_558dup (p.Asp187GlnfsTer?) c.3914_3915dup (p.Asp1306GlnfsTer?) c.3968_3969dup (p.Asp1324GlnfsTer?) c.3917_3918dup (p.Asp1307GlnfsTer?) c.3965_3966dup (p.Asp1323GlnfsTer?) c.4010_4011dup (p.Asp1338GlnfsTer?) c.3875_3876dup (p.Asp1293GlnfsTer?) c.4007_4008dup (p.Asp1337GlnfsTer?) n.150_151dup n.298_299dup n.799_800dup n.133_134dup n.274_275dup c.3872_3873dup (p.Asp1292GlnfsTer?) n.4168_4169dup | gnomAD v4 |
2 | g.71611255_71611256del | CA913090726 | DYSF | c.1382_1383del (p.Thr461ArgfsTer?) c.599_600del (p.Thr200ArgfsTer?) c.557_558del (p.Thr186ArgfsTer?) c.3914_3915del (p.Thr1305ArgfsTer?) c.3968_3969del (p.Thr1323ArgfsTer?) c.3917_3918del (p.Thr1306ArgfsTer?) c.3965_3966del (p.Thr1322ArgfsTer?) c.4010_4011del (p.Thr1337ArgfsTer?) c.3875_3876del (p.Thr1292ArgfsTer?) c.4007_4008del (p.Thr1336ArgfsTer?) n.150_151del n.298_299del n.799_800del n.133_134del n.274_275del c.3872_3873del (p.Thr1291ArgfsTer?) n.4168_4169del | |
2 | g.71611253C>A | CA347228025 | DYSF | c.1380C>A (p.Asp460Glu) c.597C>A (p.Asp199Glu) c.555C>A (p.Asp185Glu) c.3912C>A (p.Asp1304Glu) c.3966C>A (p.Asp1322Glu) c.3915C>A (p.Asp1305Glu) c.3963C>A (p.Asp1321Glu) c.4008C>A (p.Asp1336Glu) c.3873C>A (p.Asp1291Glu) c.4005C>A (p.Asp1335Glu) n.148C>A n.296C>A n.797C>A n.131C>A n.272C>A c.3870C>A (p.Asp1290Glu) n.4166C>A | |
2 | g.71611253C>G | CA347228033 | DYSF | c.1380C>G (p.Asp460Glu) c.597C>G (p.Asp199Glu) c.555C>G (p.Asp185Glu) c.3912C>G (p.Asp1304Glu) c.3966C>G (p.Asp1322Glu) c.3915C>G (p.Asp1305Glu) c.3963C>G (p.Asp1321Glu) c.4008C>G (p.Asp1336Glu) c.3873C>G (p.Asp1291Glu) c.4005C>G (p.Asp1335Glu) n.148C>G n.296C>G n.797C>G n.131C>G n.272C>G c.3870C>G (p.Asp1290Glu) n.4166C>G | |
2 | g.71611253C>T | CA426702603 | DYSF | c.1380C>T (p.Asp460=) c.597C>T (p.Asp199=) c.555C>T (p.Asp185=) c.3912C>T (p.Asp1304=) c.3966C>T (p.Asp1322=) c.3915C>T (p.Asp1305=) c.3963C>T (p.Asp1321=) c.4008C>T (p.Asp1336=) c.3873C>T (p.Asp1291=) c.4005C>T (p.Asp1335=) n.148C>T n.296C>T n.797C>T n.131C>T n.272C>T c.3870C>T (p.Asp1290=) n.4166C>T | |
2 | g.71611254A= | CA1260124001 | DYSF | c.1381A= (p.Thr461=) c.598A= (p.Thr200=) c.556A= (p.Thr186=) c.3913A= (p.Thr1305=) c.3967A= (p.Thr1323=) c.3916A= (p.Thr1306=) c.3964A= (p.Thr1322=) c.4009A= (p.Thr1337=) c.3874A= (p.Thr1292=) c.4006A= (p.Thr1336=) n.149A= n.297A= n.798A= n.132A= n.273A= c.3871A= (p.Thr1291=) n.4167A= | |
2 | g.71611254A>C | CA347228041 | DYSF | c.1381A>C (p.Thr461Pro) c.598A>C (p.Thr200Pro) c.556A>C (p.Thr186Pro) c.3913A>C (p.Thr1305Pro) c.3967A>C (p.Thr1323Pro) c.3916A>C (p.Thr1306Pro) c.3964A>C (p.Thr1322Pro) c.4009A>C (p.Thr1337Pro) c.3874A>C (p.Thr1292Pro) c.4006A>C (p.Thr1336Pro) n.149A>C n.297A>C n.798A>C n.132A>C n.273A>C c.3871A>C (p.Thr1291Pro) n.4167A>C | |
2 | g.71611254A>G | CA347228037 | DYSF | c.1381A>G (p.Thr461Ala) c.598A>G (p.Thr200Ala) c.556A>G (p.Thr186Ala) c.3913A>G (p.Thr1305Ala) c.3967A>G (p.Thr1323Ala) c.3916A>G (p.Thr1306Ala) c.3964A>G (p.Thr1322Ala) c.4009A>G (p.Thr1337Ala) c.3874A>G (p.Thr1292Ala) c.4006A>G (p.Thr1336Ala) n.149A>G n.297A>G n.798A>G n.132A>G n.273A>G c.3871A>G (p.Thr1291Ala) n.4167A>G | dbSNP gnomAD v4 |
2 | g.71611254A>T | CA347228039 | DYSF | c.1381A>T (p.Thr461Ser) c.598A>T (p.Thr200Ser) c.556A>T (p.Thr186Ser) c.3913A>T (p.Thr1305Ser) c.3967A>T (p.Thr1323Ser) c.3916A>T (p.Thr1306Ser) c.3964A>T (p.Thr1322Ser) c.4009A>T (p.Thr1337Ser) c.3874A>T (p.Thr1292Ser) c.4006A>T (p.Thr1336Ser) n.149A>T n.297A>T n.798A>T n.132A>T n.273A>T c.3871A>T (p.Thr1291Ser) n.4167A>T | |
2 | g.71611255C>A | CA1706829 | DYSF | c.1382C>A (p.Thr461Lys) c.599C>A (p.Thr200Lys) c.557C>A (p.Thr186Lys) c.3914C>A (p.Thr1305Lys) c.3968C>A (p.Thr1323Lys) c.3917C>A (p.Thr1306Lys) c.3965C>A (p.Thr1322Lys) c.4010C>A (p.Thr1337Lys) c.3875C>A (p.Thr1292Lys) c.4007C>A (p.Thr1336Lys) n.150C>A n.298C>A n.799C>A n.133C>A n.274C>A c.3872C>A (p.Thr1291Lys) n.4168C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611255C= | CA1260124003 | DYSF | c.1382C= (p.Thr461=) c.599C= (p.Thr200=) c.557C= (p.Thr186=) c.3914C= (p.Thr1305=) c.3968C= (p.Thr1323=) c.3917C= (p.Thr1306=) c.3965C= (p.Thr1322=) c.4010C= (p.Thr1337=) c.3875C= (p.Thr1292=) c.4007C= (p.Thr1336=) n.150C= n.298C= n.799C= n.133C= n.274C= c.3872C= (p.Thr1291=) n.4168C= | |
2 | g.71611255C>G | CA1706830 | DYSF | c.1382C>G (p.Thr461Arg) c.599C>G (p.Thr200Arg) c.557C>G (p.Thr186Arg) c.3914C>G (p.Thr1305Arg) c.3968C>G (p.Thr1323Arg) c.3917C>G (p.Thr1306Arg) c.3965C>G (p.Thr1322Arg) c.4010C>G (p.Thr1337Arg) c.3875C>G (p.Thr1292Arg) c.4007C>G (p.Thr1336Arg) n.150C>G n.298C>G n.799C>G n.133C>G n.274C>G c.3872C>G (p.Thr1291Arg) n.4168C>G | dbSNP ExAC gnomAD v4 |
2 | g.71611255C>T | CA347228048 | DYSF | c.1382C>T (p.Thr461Ile) c.599C>T (p.Thr200Ile) c.557C>T (p.Thr186Ile) c.3914C>T (p.Thr1305Ile) c.3968C>T (p.Thr1323Ile) c.3917C>T (p.Thr1306Ile) c.3965C>T (p.Thr1322Ile) c.4010C>T (p.Thr1337Ile) c.3875C>T (p.Thr1292Ile) c.4007C>T (p.Thr1336Ile) n.150C>T n.298C>T n.799C>T n.133C>T n.274C>T c.3872C>T (p.Thr1291Ile) n.4168C>T | gnomAD v4 |
2 | g.71611255_71611256delinsCA | CA1260124002 | DYSF | c.1382_1383delinsCA (p.Thr461=) c.599_600delinsCA (p.Thr200=) c.557_558delinsCA (p.Thr186=) c.3914_3915delinsCA (p.Thr1305=) c.3968_3969delinsCA (p.Thr1323=) c.3917_3918delinsCA (p.Thr1306=) c.3965_3966delinsCA (p.Thr1322=) c.4010_4011delinsCA (p.Thr1337=) c.3875_3876delinsCA (p.Thr1292=) c.4007_4008delinsCA (p.Thr1336=) n.150_151delinsCA n.298_299delinsCA n.799_800delinsCA n.133_134delinsCA n.274_275delinsCA c.3872_3873delinsCA (p.Thr1291=) n.4168_4169delinsCA | |
2 | g.71611256del | CA658821435 | DYSF | c.1383del (p.Asp462ThrfsTer?) c.600del (p.Asp201ThrfsTer?) c.558del (p.Asp187ThrfsTer?) c.3915del (p.Asp1306ThrfsTer?) c.3969del (p.Asp1324ThrfsTer?) c.3918del (p.Asp1307ThrfsTer?) c.3966del (p.Asp1323ThrfsTer?) c.4011del (p.Asp1338ThrfsTer?) c.3876del (p.Asp1293ThrfsTer?) c.4008del (p.Asp1337ThrfsTer?) n.151del n.299del n.800del n.134del n.275del c.3873del (p.Asp1292ThrfsTer?) n.4169del | ClinVar dbSNP gnomAD v4 |
2 | g.71611256A>C | CA426702606 | DYSF | c.1383A>C (p.Thr461=) c.600A>C (p.Thr200=) c.558A>C (p.Thr186=) c.3915A>C (p.Thr1305=) c.3969A>C (p.Thr1323=) c.3918A>C (p.Thr1306=) c.3966A>C (p.Thr1322=) c.4011A>C (p.Thr1337=) c.3876A>C (p.Thr1292=) c.4008A>C (p.Thr1336=) n.151A>C n.299A>C n.800A>C n.134A>C n.275A>C c.3873A>C (p.Thr1291=) n.4169A>C | |
2 | g.71611256A>G | CA426702605 | DYSF | c.1383A>G (p.Thr461=) c.600A>G (p.Thr200=) c.558A>G (p.Thr186=) c.3915A>G (p.Thr1305=) c.3969A>G (p.Thr1323=) c.3918A>G (p.Thr1306=) c.3966A>G (p.Thr1322=) c.4011A>G (p.Thr1337=) c.3876A>G (p.Thr1292=) c.4008A>G (p.Thr1336=) n.151A>G n.299A>G n.800A>G n.134A>G n.275A>G c.3873A>G (p.Thr1291=) n.4169A>G | |
2 | g.71611256A>T | CA426702604 | DYSF | c.1383A>T (p.Thr461=) c.600A>T (p.Thr200=) c.558A>T (p.Thr186=) c.3915A>T (p.Thr1305=) c.3969A>T (p.Thr1323=) c.3918A>T (p.Thr1306=) c.3966A>T (p.Thr1322=) c.4011A>T (p.Thr1337=) c.3876A>T (p.Thr1292=) c.4008A>T (p.Thr1336=) n.151A>T n.299A>T n.800A>T n.134A>T n.275A>T c.3873A>T (p.Thr1291=) n.4169A>T | |
2 | g.71611257G>A | CA1706831 | DYSF | c.1384G>A (p.Asp462Asn) c.601G>A (p.Asp201Asn) c.559G>A (p.Asp187Asn) c.3916G>A (p.Asp1306Asn) c.3970G>A (p.Asp1324Asn) c.3919G>A (p.Asp1307Asn) c.3967G>A (p.Asp1323Asn) c.4012G>A (p.Asp1338Asn) c.3877G>A (p.Asp1293Asn) c.4009G>A (p.Asp1337Asn) n.152G>A n.300G>A n.801G>A n.135G>A n.276G>A c.3874G>A (p.Asp1292Asn) n.4170G>A | dbSNP ExAC |
2 | g.71611257G>C | CA347228053 | DYSF | c.1384G>C (p.Asp462His) c.601G>C (p.Asp201His) c.559G>C (p.Asp187His) c.3916G>C (p.Asp1306His) c.3970G>C (p.Asp1324His) c.3919G>C (p.Asp1307His) c.3967G>C (p.Asp1323His) c.4012G>C (p.Asp1338His) c.3877G>C (p.Asp1293His) c.4009G>C (p.Asp1337His) n.152G>C n.300G>C n.801G>C n.135G>C n.276G>C c.3874G>C (p.Asp1292His) n.4170G>C | |
2 | g.71611257G= | CA1260124004 | DYSF | c.1384G= (p.Asp462=) c.601G= (p.Asp201=) c.559G= (p.Asp187=) c.3916G= (p.Asp1306=) c.3970G= (p.Asp1324=) c.3919G= (p.Asp1307=) c.3967G= (p.Asp1323=) c.4012G= (p.Asp1338=) c.3877G= (p.Asp1293=) c.4009G= (p.Asp1337=) n.152G= n.300G= n.801G= n.135G= n.276G= c.3874G= (p.Asp1292=) n.4170G= | |
2 | g.71611257G>T | CA347228055 | DYSF | c.1384G>T (p.Asp462Tyr) c.601G>T (p.Asp201Tyr) c.559G>T (p.Asp187Tyr) c.3916G>T (p.Asp1306Tyr) c.3970G>T (p.Asp1324Tyr) c.3919G>T (p.Asp1307Tyr) c.3967G>T (p.Asp1323Tyr) c.4012G>T (p.Asp1338Tyr) c.3877G>T (p.Asp1293Tyr) c.4009G>T (p.Asp1337Tyr) n.152G>T n.300G>T n.801G>T n.135G>T n.276G>T c.3874G>T (p.Asp1292Tyr) n.4170G>T | gnomAD v4 COSMIC COSMIC |
2 | g.71611258A= | CA1260124005 | DYSF | c.1385A= (p.Asp462=) c.602A= (p.Asp201=) c.560A= (p.Asp187=) c.3917A= (p.Asp1306=) c.3971A= (p.Asp1324=) c.3920A= (p.Asp1307=) c.3968A= (p.Asp1323=) c.4013A= (p.Asp1338=) c.3878A= (p.Asp1293=) c.4010A= (p.Asp1337=) n.153A= n.301A= n.802A= n.136A= n.277A= c.3875A= (p.Asp1292=) n.4171A= | |
2 | g.71611258A>C | CA347228058 | DYSF | c.1385A>C (p.Asp462Ala) c.602A>C (p.Asp201Ala) c.560A>C (p.Asp187Ala) c.3917A>C (p.Asp1306Ala) c.3971A>C (p.Asp1324Ala) c.3920A>C (p.Asp1307Ala) c.3968A>C (p.Asp1323Ala) c.4013A>C (p.Asp1338Ala) c.3878A>C (p.Asp1293Ala) c.4010A>C (p.Asp1337Ala) n.153A>C n.301A>C n.802A>C n.136A>C n.277A>C c.3875A>C (p.Asp1292Ala) n.4171A>C | dbSNP |
2 | g.71611258A>G | CA347228060 | DYSF | c.1385A>G (p.Asp462Gly) c.602A>G (p.Asp201Gly) c.560A>G (p.Asp187Gly) c.3917A>G (p.Asp1306Gly) c.3971A>G (p.Asp1324Gly) c.3920A>G (p.Asp1307Gly) c.3968A>G (p.Asp1323Gly) c.4013A>G (p.Asp1338Gly) c.3878A>G (p.Asp1293Gly) c.4010A>G (p.Asp1337Gly) n.153A>G n.301A>G n.802A>G n.136A>G n.277A>G c.3875A>G (p.Asp1292Gly) n.4171A>G | |
2 | g.71611258A>T | CA347228056 | DYSF | c.1385A>T (p.Asp462Val) c.602A>T (p.Asp201Val) c.560A>T (p.Asp187Val) c.3917A>T (p.Asp1306Val) c.3971A>T (p.Asp1324Val) c.3920A>T (p.Asp1307Val) c.3968A>T (p.Asp1323Val) c.4013A>T (p.Asp1338Val) c.3878A>T (p.Asp1293Val) c.4010A>T (p.Asp1337Val) n.153A>T n.301A>T n.802A>T n.136A>T n.277A>T c.3875A>T (p.Asp1292Val) n.4171A>T | |
2 | g.71611259C>A | CA347228065 | DYSF | c.1386C>A (p.Asp462Glu) c.603C>A (p.Asp201Glu) c.561C>A (p.Asp187Glu) c.3918C>A (p.Asp1306Glu) c.3972C>A (p.Asp1324Glu) c.3921C>A (p.Asp1307Glu) c.3969C>A (p.Asp1323Glu) c.4014C>A (p.Asp1338Glu) c.3879C>A (p.Asp1293Glu) c.4011C>A (p.Asp1337Glu) n.154C>A n.302C>A n.803C>A n.137C>A n.278C>A c.3876C>A (p.Asp1292Glu) n.4172C>A | |
2 | g.71611259C>G | CA347228063 | DYSF | c.1386C>G (p.Asp462Glu) c.603C>G (p.Asp201Glu) c.561C>G (p.Asp187Glu) c.3918C>G (p.Asp1306Glu) c.3972C>G (p.Asp1324Glu) c.3921C>G (p.Asp1307Glu) c.3969C>G (p.Asp1323Glu) c.4014C>G (p.Asp1338Glu) c.3879C>G (p.Asp1293Glu) c.4011C>G (p.Asp1337Glu) n.154C>G n.302C>G n.803C>G n.137C>G n.278C>G c.3876C>G (p.Asp1292Glu) n.4172C>G | |
2 | g.71611259C>T | CA426702607 | DYSF | c.1386C>T (p.Asp462=) c.603C>T (p.Asp201=) c.561C>T (p.Asp187=) c.3918C>T (p.Asp1306=) c.3972C>T (p.Asp1324=) c.3921C>T (p.Asp1307=) c.3969C>T (p.Asp1323=) c.4014C>T (p.Asp1338=) c.3879C>T (p.Asp1293=) c.4011C>T (p.Asp1337=) n.154C>T n.302C>T n.803C>T n.137C>T n.278C>T c.3876C>T (p.Asp1292=) n.4172C>T | ClinVar |
2 | g.71611260C>A | CA347228068 | DYSF | c.1387C>A (p.Leu463Met) c.604C>A (p.Leu202Met) c.562C>A (p.Leu188Met) c.3919C>A (p.Leu1307Met) c.3973C>A (p.Leu1325Met) c.3922C>A (p.Leu1308Met) c.3970C>A (p.Leu1324Met) c.4015C>A (p.Leu1339Met) c.3880C>A (p.Leu1294Met) c.4012C>A (p.Leu1338Met) n.155C>A n.303C>A n.804C>A n.138C>A n.279C>A c.3877C>A (p.Leu1293Met) n.4173C>A | |
2 | g.71611260C= | CA1260124006 | DYSF | c.1387C= (p.Leu463=) c.604C= (p.Leu202=) c.562C= (p.Leu188=) c.3919C= (p.Leu1307=) c.3973C= (p.Leu1325=) c.3922C= (p.Leu1308=) c.3970C= (p.Leu1324=) c.4015C= (p.Leu1339=) c.3880C= (p.Leu1294=) c.4012C= (p.Leu1338=) n.155C= n.303C= n.804C= n.138C= n.279C= c.3877C= (p.Leu1293=) n.4173C= | |
2 | g.71611260C>G | CA347228071 | DYSF | c.1387C>G (p.Leu463Val) c.604C>G (p.Leu202Val) c.562C>G (p.Leu188Val) c.3919C>G (p.Leu1307Val) c.3973C>G (p.Leu1325Val) c.3922C>G (p.Leu1308Val) c.3970C>G (p.Leu1324Val) c.4015C>G (p.Leu1339Val) c.3880C>G (p.Leu1294Val) c.4012C>G (p.Leu1338Val) n.155C>G n.303C>G n.804C>G n.138C>G n.279C>G c.3877C>G (p.Leu1293Val) n.4173C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611260C>T | CA426702608 | DYSF | c.1387C>T (p.Leu463=) c.604C>T (p.Leu202=) c.562C>T (p.Leu188=) c.3919C>T (p.Leu1307=) c.3973C>T (p.Leu1325=) c.3922C>T (p.Leu1308=) c.3970C>T (p.Leu1324=) c.4015C>T (p.Leu1339=) c.3880C>T (p.Leu1294=) c.4012C>T (p.Leu1338=) n.155C>T n.303C>T n.804C>T n.138C>T n.279C>T c.3877C>T (p.Leu1293=) n.4173C>T | |
2 | g.71611261T>A | CA347228074 | DYSF | c.1388T>A (p.Leu463Gln) c.605T>A (p.Leu202Gln) c.563T>A (p.Leu188Gln) c.3920T>A (p.Leu1307Gln) c.3974T>A (p.Leu1325Gln) c.3923T>A (p.Leu1308Gln) c.3971T>A (p.Leu1324Gln) c.4016T>A (p.Leu1339Gln) c.3881T>A (p.Leu1294Gln) c.4013T>A (p.Leu1338Gln) n.156T>A n.304T>A n.805T>A n.139T>A n.280T>A c.3878T>A (p.Leu1293Gln) n.4174T>A | |
2 | g.71611261T>C | CA347228076 | DYSF | c.1388T>C (p.Leu463Pro) c.605T>C (p.Leu202Pro) c.563T>C (p.Leu188Pro) c.3920T>C (p.Leu1307Pro) c.3974T>C (p.Leu1325Pro) c.3923T>C (p.Leu1308Pro) c.3971T>C (p.Leu1324Pro) c.4016T>C (p.Leu1339Pro) c.3881T>C (p.Leu1294Pro) c.4013T>C (p.Leu1338Pro) n.156T>C n.304T>C n.805T>C n.139T>C n.280T>C c.3878T>C (p.Leu1293Pro) n.4174T>C | |
2 | g.71611261T>G | CA347228079 | DYSF | c.1388T>G (p.Leu463Arg) c.605T>G (p.Leu202Arg) c.563T>G (p.Leu188Arg) c.3920T>G (p.Leu1307Arg) c.3974T>G (p.Leu1325Arg) c.3923T>G (p.Leu1308Arg) c.3971T>G (p.Leu1324Arg) c.4016T>G (p.Leu1339Arg) c.3881T>G (p.Leu1294Arg) c.4013T>G (p.Leu1338Arg) n.156T>G n.304T>G n.805T>G n.139T>G n.280T>G c.3878T>G (p.Leu1293Arg) n.4174T>G | |
2 | g.71611262G>A | CA426702609 | DYSF | c.1389G>A (p.Leu463=) c.606G>A (p.Leu202=) c.564G>A (p.Leu188=) c.3921G>A (p.Leu1307=) c.3975G>A (p.Leu1325=) c.3924G>A (p.Leu1308=) c.3972G>A (p.Leu1324=) c.4017G>A (p.Leu1339=) c.3882G>A (p.Leu1294=) c.4014G>A (p.Leu1338=) n.157G>A n.305G>A n.806G>A n.140G>A n.281G>A c.3879G>A (p.Leu1293=) n.4175G>A | ClinVar |
2 | g.71611262G>C | CA426702611 | DYSF | c.1389G>C (p.Leu463=) c.606G>C (p.Leu202=) c.564G>C (p.Leu188=) c.3921G>C (p.Leu1307=) c.3975G>C (p.Leu1325=) c.3924G>C (p.Leu1308=) c.3972G>C (p.Leu1324=) c.4017G>C (p.Leu1339=) c.3882G>C (p.Leu1294=) c.4014G>C (p.Leu1338=) n.157G>C n.305G>C n.806G>C n.140G>C n.281G>C c.3879G>C (p.Leu1293=) n.4175G>C | ClinVar dbSNP |
2 | g.71611262G>T | CA426702610 | DYSF | c.1389G>T (p.Leu463=) c.606G>T (p.Leu202=) c.564G>T (p.Leu188=) c.3921G>T (p.Leu1307=) c.3975G>T (p.Leu1325=) c.3924G>T (p.Leu1308=) c.3972G>T (p.Leu1324=) c.4017G>T (p.Leu1339=) c.3882G>T (p.Leu1294=) c.4014G>T (p.Leu1338=) n.157G>T n.305G>T n.806G>T n.140G>T n.281G>T c.3879G>T (p.Leu1293=) n.4175G>T | |
2 | g.71611263C>A | CA347228081 | DYSF | c.1390C>A (p.Pro464Thr) c.607C>A (p.Pro203Thr) c.565C>A (p.Pro189Thr) c.3922C>A (p.Pro1308Thr) c.3976C>A (p.Pro1326Thr) c.3925C>A (p.Pro1309Thr) c.3973C>A (p.Pro1325Thr) c.4018C>A (p.Pro1340Thr) c.3883C>A (p.Pro1295Thr) c.4015C>A (p.Pro1339Thr) n.158C>A n.306C>A n.807C>A n.141C>A n.282C>A c.3880C>A (p.Pro1294Thr) n.4176C>A | |
2 | g.71611263C= | CA1260124007 | DYSF | c.1390C= (p.Pro464=) c.607C= (p.Pro203=) c.565C= (p.Pro189=) c.3922C= (p.Pro1308=) c.3976C= (p.Pro1326=) c.3925C= (p.Pro1309=) c.3973C= (p.Pro1325=) c.4018C= (p.Pro1340=) c.3883C= (p.Pro1295=) c.4015C= (p.Pro1339=) n.158C= n.306C= n.807C= n.141C= n.282C= c.3880C= (p.Pro1294=) n.4176C= | |
2 | g.71611263C>G | CA347228082 | DYSF | c.1390C>G (p.Pro464Ala) c.607C>G (p.Pro203Ala) c.565C>G (p.Pro189Ala) c.3922C>G (p.Pro1308Ala) c.3976C>G (p.Pro1326Ala) c.3925C>G (p.Pro1309Ala) c.3973C>G (p.Pro1325Ala) c.4018C>G (p.Pro1340Ala) c.3883C>G (p.Pro1295Ala) c.4015C>G (p.Pro1339Ala) n.158C>G n.306C>G n.807C>G n.141C>G n.282C>G c.3880C>G (p.Pro1294Ala) n.4176C>G | |
2 | g.71611263C>T | CA1706832 | DYSF | c.1390C>T (p.Pro464Ser) c.607C>T (p.Pro203Ser) c.565C>T (p.Pro189Ser) c.3922C>T (p.Pro1308Ser) c.3976C>T (p.Pro1326Ser) c.3925C>T (p.Pro1309Ser) c.3973C>T (p.Pro1325Ser) c.4018C>T (p.Pro1340Ser) c.3883C>T (p.Pro1295Ser) c.4015C>T (p.Pro1339Ser) n.158C>T n.306C>T n.807C>T n.141C>T n.282C>T c.3880C>T (p.Pro1294Ser) n.4176C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611264C>A | CA347228087 | DYSF | c.1391C>A (p.Pro464His) c.608C>A (p.Pro203His) c.566C>A (p.Pro189His) c.3923C>A (p.Pro1308His) c.3977C>A (p.Pro1326His) c.3926C>A (p.Pro1309His) c.3974C>A (p.Pro1325His) c.4019C>A (p.Pro1340His) c.3884C>A (p.Pro1295His) c.4016C>A (p.Pro1339His) n.159C>A n.307C>A n.808C>A n.142C>A n.283C>A c.3881C>A (p.Pro1294His) n.4177C>A | |
2 | g.71611264C>G | CA347228088 | DYSF | c.1391C>G (p.Pro464Arg) c.608C>G (p.Pro203Arg) c.566C>G (p.Pro189Arg) c.3923C>G (p.Pro1308Arg) c.3977C>G (p.Pro1326Arg) c.3926C>G (p.Pro1309Arg) c.3974C>G (p.Pro1325Arg) c.4019C>G (p.Pro1340Arg) c.3884C>G (p.Pro1295Arg) c.4016C>G (p.Pro1339Arg) n.159C>G n.307C>G n.808C>G n.142C>G n.283C>G c.3881C>G (p.Pro1294Arg) n.4177C>G | |
2 | g.71611264C>T | CA347228091 | DYSF | c.1391C>T (p.Pro464Leu) c.608C>T (p.Pro203Leu) c.566C>T (p.Pro189Leu) c.3923C>T (p.Pro1308Leu) c.3977C>T (p.Pro1326Leu) c.3926C>T (p.Pro1309Leu) c.3974C>T (p.Pro1325Leu) c.4019C>T (p.Pro1340Leu) c.3884C>T (p.Pro1295Leu) c.4016C>T (p.Pro1339Leu) n.159C>T n.307C>T n.808C>T n.142C>T n.283C>T c.3881C>T (p.Pro1294Leu) n.4177C>T | |
2 | g.71611265C>A | CA426702612 | DYSF | c.1392C>A (p.Pro464=) c.609C>A (p.Pro203=) c.567C>A (p.Pro189=) c.3924C>A (p.Pro1308=) c.3978C>A (p.Pro1326=) c.3927C>A (p.Pro1309=) c.3975C>A (p.Pro1325=) c.4020C>A (p.Pro1340=) c.3885C>A (p.Pro1295=) c.4017C>A (p.Pro1339=) n.160C>A n.308C>A n.809C>A n.143C>A n.284C>A c.3882C>A (p.Pro1294=) n.4178C>A | |
2 | g.71611265C>G | CA426702613 | DYSF | c.1392C>G (p.Pro464=) c.609C>G (p.Pro203=) c.567C>G (p.Pro189=) c.3924C>G (p.Pro1308=) c.3978C>G (p.Pro1326=) c.3927C>G (p.Pro1309=) c.3975C>G (p.Pro1325=) c.4020C>G (p.Pro1340=) c.3885C>G (p.Pro1295=) c.4017C>G (p.Pro1339=) n.160C>G n.308C>G n.809C>G n.143C>G n.284C>G c.3882C>G (p.Pro1294=) n.4178C>G | |
2 | g.71611265C>T | CA426702614 | DYSF | c.1392C>T (p.Pro464=) c.609C>T (p.Pro203=) c.567C>T (p.Pro189=) c.3924C>T (p.Pro1308=) c.3978C>T (p.Pro1326=) c.3927C>T (p.Pro1309=) c.3975C>T (p.Pro1325=) c.4020C>T (p.Pro1340=) c.3885C>T (p.Pro1295=) c.4017C>T (p.Pro1339=) n.160C>T n.308C>T n.809C>T n.143C>T n.284C>T c.3882C>T (p.Pro1294=) n.4178C>T | ClinVar COSMIC COSMIC |
2 | g.71611266T>A | CA347228099 | DYSF | c.1393T>A (p.Tyr465Asn) c.610T>A (p.Tyr204Asn) c.568T>A (p.Tyr190Asn) c.3925T>A (p.Tyr1309Asn) c.3979T>A (p.Tyr1327Asn) c.3928T>A (p.Tyr1310Asn) c.3976T>A (p.Tyr1326Asn) c.4021T>A (p.Tyr1341Asn) c.3886T>A (p.Tyr1296Asn) c.4018T>A (p.Tyr1340Asn) n.161T>A n.309T>A n.810T>A n.144T>A n.285T>A c.3883T>A (p.Tyr1295Asn) n.4179T>A | |
2 | g.71611266T>C | CA347228095 | DYSF | c.1393T>C (p.Tyr465His) c.610T>C (p.Tyr204His) c.568T>C (p.Tyr190His) c.3925T>C (p.Tyr1309His) c.3979T>C (p.Tyr1327His) c.3928T>C (p.Tyr1310His) c.3976T>C (p.Tyr1326His) c.4021T>C (p.Tyr1341His) c.3886T>C (p.Tyr1296His) c.4018T>C (p.Tyr1340His) n.161T>C n.309T>C n.810T>C n.144T>C n.285T>C c.3883T>C (p.Tyr1295His) n.4179T>C | |
2 | g.71611266T>G | CA347228097 | DYSF | c.1393T>G (p.Tyr465Asp) c.610T>G (p.Tyr204Asp) c.568T>G (p.Tyr190Asp) c.3925T>G (p.Tyr1309Asp) c.3979T>G (p.Tyr1327Asp) c.3928T>G (p.Tyr1310Asp) c.3976T>G (p.Tyr1326Asp) c.4021T>G (p.Tyr1341Asp) c.3886T>G (p.Tyr1296Asp) c.4018T>G (p.Tyr1340Asp) n.161T>G n.309T>G n.810T>G n.144T>G n.285T>G c.3883T>G (p.Tyr1295Asp) n.4179T>G | |
2 | g.71611267A>C | CA347228102 | DYSF | c.1394A>C (p.Tyr465Ser) c.611A>C (p.Tyr204Ser) c.569A>C (p.Tyr190Ser) c.3926A>C (p.Tyr1309Ser) c.3980A>C (p.Tyr1327Ser) c.3929A>C (p.Tyr1310Ser) c.3977A>C (p.Tyr1326Ser) c.4022A>C (p.Tyr1341Ser) c.3887A>C (p.Tyr1296Ser) c.4019A>C (p.Tyr1340Ser) n.162A>C n.310A>C n.811A>C n.145A>C n.286A>C c.3884A>C (p.Tyr1295Ser) n.4180A>C | |
2 | g.71611267A>G | CA347228105 | DYSF | c.1394A>G (p.Tyr465Cys) c.611A>G (p.Tyr204Cys) c.569A>G (p.Tyr190Cys) c.3926A>G (p.Tyr1309Cys) c.3980A>G (p.Tyr1327Cys) c.3929A>G (p.Tyr1310Cys) c.3977A>G (p.Tyr1326Cys) c.4022A>G (p.Tyr1341Cys) c.3887A>G (p.Tyr1296Cys) c.4019A>G (p.Tyr1340Cys) n.162A>G n.310A>G n.811A>G n.145A>G n.286A>G c.3884A>G (p.Tyr1295Cys) n.4180A>G | |
2 | g.71611267A>T | CA347228106 | DYSF | c.1394A>T (p.Tyr465Phe) c.611A>T (p.Tyr204Phe) c.569A>T (p.Tyr190Phe) c.3926A>T (p.Tyr1309Phe) c.3980A>T (p.Tyr1327Phe) c.3929A>T (p.Tyr1310Phe) c.3977A>T (p.Tyr1326Phe) c.4022A>T (p.Tyr1341Phe) c.3887A>T (p.Tyr1296Phe) c.4019A>T (p.Tyr1340Phe) n.162A>T n.310A>T n.811A>T n.145A>T n.286A>T c.3884A>T (p.Tyr1295Phe) n.4180A>T | |
2 | g.71611268C>A | CA347228111 | DYSF | c.1395C>A (p.Tyr465Ter) c.612C>A (p.Tyr204Ter) c.570C>A (p.Tyr190Ter) c.3927C>A (p.Tyr1309Ter) c.3981C>A (p.Tyr1327Ter) c.3930C>A (p.Tyr1310Ter) c.3978C>A (p.Tyr1326Ter) c.4023C>A (p.Tyr1341Ter) c.3888C>A (p.Tyr1296Ter) c.4020C>A (p.Tyr1340Ter) n.163C>A n.311C>A n.812C>A n.146C>A n.287C>A c.3885C>A (p.Tyr1295Ter) n.4181C>A | |
2 | g.71611268C= | CA1260124008 | DYSF | c.1395C= (p.Tyr465=) c.612C= (p.Tyr204=) c.570C= (p.Tyr190=) c.3927C= (p.Tyr1309=) c.3981C= (p.Tyr1327=) c.3930C= (p.Tyr1310=) c.3978C= (p.Tyr1326=) c.4023C= (p.Tyr1341=) c.3888C= (p.Tyr1296=) c.4020C= (p.Tyr1340=) n.163C= n.311C= n.812C= n.146C= n.287C= c.3885C= (p.Tyr1295=) n.4181C= | |
2 | g.71611268C>G | CA347228113 | DYSF | c.1395C>G (p.Tyr465Ter) c.612C>G (p.Tyr204Ter) c.570C>G (p.Tyr190Ter) c.3927C>G (p.Tyr1309Ter) c.3981C>G (p.Tyr1327Ter) c.3930C>G (p.Tyr1310Ter) c.3978C>G (p.Tyr1326Ter) c.4023C>G (p.Tyr1341Ter) c.3888C>G (p.Tyr1296Ter) c.4020C>G (p.Tyr1340Ter) n.163C>G n.311C>G n.812C>G n.146C>G n.287C>G c.3885C>G (p.Tyr1295Ter) n.4181C>G | |
2 | g.71611268C>T | CA1706833 | DYSF | c.1395C>T (p.Tyr465=) c.612C>T (p.Tyr204=) c.570C>T (p.Tyr190=) c.3927C>T (p.Tyr1309=) c.3981C>T (p.Tyr1327=) c.3930C>T (p.Tyr1310=) c.3978C>T (p.Tyr1326=) c.4023C>T (p.Tyr1341=) c.3888C>T (p.Tyr1296=) c.4020C>T (p.Tyr1340=) n.163C>T n.311C>T n.812C>T n.146C>T n.287C>T c.3885C>T (p.Tyr1295=) n.4181C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611269C>A | CA347228117 | DYSF | c.1396C>A (p.Pro466Thr) c.613C>A (p.Pro205Thr) c.571C>A (p.Pro191Thr) c.3928C>A (p.Pro1310Thr) c.3982C>A (p.Pro1328Thr) c.3931C>A (p.Pro1311Thr) c.3979C>A (p.Pro1327Thr) c.4024C>A (p.Pro1342Thr) c.3889C>A (p.Pro1297Thr) c.4021C>A (p.Pro1341Thr) n.164C>A n.312C>A n.813C>A n.147C>A n.288C>A c.3886C>A (p.Pro1296Thr) n.4182C>A | |
2 | g.71611269C>G | CA347228120 | DYSF | c.1396C>G (p.Pro466Ala) c.613C>G (p.Pro205Ala) c.571C>G (p.Pro191Ala) c.3928C>G (p.Pro1310Ala) c.3982C>G (p.Pro1328Ala) c.3931C>G (p.Pro1311Ala) c.3979C>G (p.Pro1327Ala) c.4024C>G (p.Pro1342Ala) c.3889C>G (p.Pro1297Ala) c.4021C>G (p.Pro1341Ala) n.164C>G n.312C>G n.813C>G n.147C>G n.288C>G c.3886C>G (p.Pro1296Ala) n.4182C>G | |
2 | g.71611269C>T | CA347228122 | DYSF | c.1396C>T (p.Pro466Ser) c.613C>T (p.Pro205Ser) c.571C>T (p.Pro191Ser) c.3928C>T (p.Pro1310Ser) c.3982C>T (p.Pro1328Ser) c.3931C>T (p.Pro1311Ser) c.3979C>T (p.Pro1327Ser) c.4024C>T (p.Pro1342Ser) c.3889C>T (p.Pro1297Ser) c.4021C>T (p.Pro1341Ser) n.164C>T n.312C>T n.813C>T n.147C>T n.288C>T c.3886C>T (p.Pro1296Ser) n.4182C>T | |
2 | g.71611270C>A | CA347228126 | DYSF | c.1397C>A (p.Pro466Gln) c.614C>A (p.Pro205Gln) c.572C>A (p.Pro191Gln) c.3929C>A (p.Pro1310Gln) c.3983C>A (p.Pro1328Gln) c.3932C>A (p.Pro1311Gln) c.3980C>A (p.Pro1327Gln) c.4025C>A (p.Pro1342Gln) c.3890C>A (p.Pro1297Gln) c.4022C>A (p.Pro1341Gln) n.165C>A n.313C>A n.814C>A n.148C>A n.289C>A c.3887C>A (p.Pro1296Gln) n.4183C>A | |
2 | g.71611270C= | CA1260124009 | DYSF | c.1397C= (p.Pro466=) c.614C= (p.Pro205=) c.572C= (p.Pro191=) c.3929C= (p.Pro1310=) c.3983C= (p.Pro1328=) c.3932C= (p.Pro1311=) c.3980C= (p.Pro1327=) c.4025C= (p.Pro1342=) c.3890C= (p.Pro1297=) c.4022C= (p.Pro1341=) n.165C= n.313C= n.814C= n.148C= n.289C= c.3887C= (p.Pro1296=) n.4183C= | |
2 | g.71611270C>G | CA347228129 | DYSF | c.1397C>G (p.Pro466Arg) c.614C>G (p.Pro205Arg) c.572C>G (p.Pro191Arg) c.3929C>G (p.Pro1310Arg) c.3983C>G (p.Pro1328Arg) c.3932C>G (p.Pro1311Arg) c.3980C>G (p.Pro1327Arg) c.4025C>G (p.Pro1342Arg) c.3890C>G (p.Pro1297Arg) c.4022C>G (p.Pro1341Arg) n.165C>G n.313C>G n.814C>G n.148C>G n.289C>G c.3887C>G (p.Pro1296Arg) n.4183C>G | |
2 | g.71611270C>T | CA347228131 | DYSF | c.1397C>T (p.Pro466Leu) c.614C>T (p.Pro205Leu) c.572C>T (p.Pro191Leu) c.3929C>T (p.Pro1310Leu) c.3983C>T (p.Pro1328Leu) c.3932C>T (p.Pro1311Leu) c.3980C>T (p.Pro1327Leu) c.4025C>T (p.Pro1342Leu) c.3890C>T (p.Pro1297Leu) c.4022C>T (p.Pro1341Leu) n.165C>T n.313C>T n.814C>T n.148C>T n.289C>T c.3887C>T (p.Pro1296Leu) n.4183C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611271A= | CA1260124010 | DYSF | c.1398A= (p.Pro466=) c.615A= (p.Pro205=) c.573A= (p.Pro191=) c.3930A= (p.Pro1310=) c.3984A= (p.Pro1328=) c.3933A= (p.Pro1311=) c.3981A= (p.Pro1327=) c.4026A= (p.Pro1342=) c.3891A= (p.Pro1297=) c.4023A= (p.Pro1341=) n.166A= n.314A= n.815A= n.149A= n.290A= c.3888A= (p.Pro1296=) n.4184A= | |
2 | g.71611271A>C | CA49778523 | DYSF | c.1398A>C (p.Pro466=) c.615A>C (p.Pro205=) c.573A>C (p.Pro191=) c.3930A>C (p.Pro1310=) c.3984A>C (p.Pro1328=) c.3933A>C (p.Pro1311=) c.3981A>C (p.Pro1327=) c.4026A>C (p.Pro1342=) c.3891A>C (p.Pro1297=) c.4023A>C (p.Pro1341=) n.166A>C n.314A>C n.815A>C n.149A>C n.290A>C c.3888A>C (p.Pro1296=) n.4184A>C | dbSNP gnomAD v4 |
2 | g.71611271A>G | CA426758611 | DYSF | c.1398A>G (p.Pro466=) c.615A>G (p.Pro205=) c.573A>G (p.Pro191=) c.3930A>G (p.Pro1310=) c.3984A>G (p.Pro1328=) c.3933A>G (p.Pro1311=) c.3981A>G (p.Pro1327=) c.4026A>G (p.Pro1342=) c.3891A>G (p.Pro1297=) c.4023A>G (p.Pro1341=) n.166A>G n.314A>G n.815A>G n.149A>G n.290A>G c.3888A>G (p.Pro1296=) n.4184A>G | gnomAD v4 |
2 | g.71611271A>T | CA426758612 | DYSF | c.1398A>T (p.Pro466=) c.615A>T (p.Pro205=) c.573A>T (p.Pro191=) c.3930A>T (p.Pro1310=) c.3984A>T (p.Pro1328=) c.3933A>T (p.Pro1311=) c.3981A>T (p.Pro1327=) c.4026A>T (p.Pro1342=) c.3891A>T (p.Pro1297=) c.4023A>T (p.Pro1341=) n.166A>T n.314A>T n.815A>T n.149A>T n.290A>T c.3888A>T (p.Pro1296=) n.4184A>T | |
2 | g.71611272C>A | CA347228135 | DYSF | c.1399C>A (p.Pro467Thr) c.616C>A (p.Pro206Thr) c.574C>A (p.Pro192Thr) c.3931C>A (p.Pro1311Thr) c.3985C>A (p.Pro1329Thr) c.3934C>A (p.Pro1312Thr) c.3982C>A (p.Pro1328Thr) c.4027C>A (p.Pro1343Thr) c.3892C>A (p.Pro1298Thr) c.4024C>A (p.Pro1342Thr) n.167C>A n.315C>A n.816C>A n.150C>A n.291C>A c.3889C>A (p.Pro1297Thr) n.4185C>A | |
2 | g.71611272C>G | CA347228137 | DYSF | c.1399C>G (p.Pro467Ala) c.616C>G (p.Pro206Ala) c.574C>G (p.Pro192Ala) c.3931C>G (p.Pro1311Ala) c.3985C>G (p.Pro1329Ala) c.3934C>G (p.Pro1312Ala) c.3982C>G (p.Pro1328Ala) c.4027C>G (p.Pro1343Ala) c.3892C>G (p.Pro1298Ala) c.4024C>G (p.Pro1342Ala) n.167C>G n.315C>G n.816C>G n.150C>G n.291C>G c.3889C>G (p.Pro1297Ala) n.4185C>G | |
2 | g.71611272C>T | CA347228133 | DYSF | c.1399C>T (p.Pro467Ser) c.616C>T (p.Pro206Ser) c.574C>T (p.Pro192Ser) c.3931C>T (p.Pro1311Ser) c.3985C>T (p.Pro1329Ser) c.3934C>T (p.Pro1312Ser) c.3982C>T (p.Pro1328Ser) c.4027C>T (p.Pro1343Ser) c.3892C>T (p.Pro1298Ser) c.4024C>T (p.Pro1342Ser) n.167C>T n.315C>T n.816C>T n.150C>T n.291C>T c.3889C>T (p.Pro1297Ser) n.4185C>T | gnomAD v4 |
2 | g.71611273C>A | CA1706834 | DYSF | c.1400C>A (p.Pro467Gln) c.617C>A (p.Pro206Gln) c.575C>A (p.Pro192Gln) c.3932C>A (p.Pro1311Gln) c.3986C>A (p.Pro1329Gln) c.3935C>A (p.Pro1312Gln) c.3983C>A (p.Pro1328Gln) c.4028C>A (p.Pro1343Gln) c.3893C>A (p.Pro1298Gln) c.4025C>A (p.Pro1342Gln) n.168C>A n.316C>A n.817C>A n.151C>A n.292C>A c.3890C>A (p.Pro1297Gln) n.4186C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611273C= | CA1260124011 | DYSF | c.1400C= (p.Pro467=) c.617C= (p.Pro206=) c.575C= (p.Pro192=) c.3932C= (p.Pro1311=) c.3986C= (p.Pro1329=) c.3935C= (p.Pro1312=) c.3983C= (p.Pro1328=) c.4028C= (p.Pro1343=) c.3893C= (p.Pro1298=) c.4025C= (p.Pro1342=) n.168C= n.316C= n.817C= n.151C= n.292C= c.3890C= (p.Pro1297=) n.4186C= | |
2 | g.71611273C>G | CA347228140 | DYSF | c.1400C>G (p.Pro467Arg) c.617C>G (p.Pro206Arg) c.575C>G (p.Pro192Arg) c.3932C>G (p.Pro1311Arg) c.3986C>G (p.Pro1329Arg) c.3935C>G (p.Pro1312Arg) c.3983C>G (p.Pro1328Arg) c.4028C>G (p.Pro1343Arg) c.3893C>G (p.Pro1298Arg) c.4025C>G (p.Pro1342Arg) n.168C>G n.316C>G n.817C>G n.151C>G n.292C>G c.3890C>G (p.Pro1297Arg) n.4186C>G | |
2 | g.71611273C>T | CA347228141 | DYSF | c.1400C>T (p.Pro467Leu) c.617C>T (p.Pro206Leu) c.575C>T (p.Pro192Leu) c.3932C>T (p.Pro1311Leu) c.3986C>T (p.Pro1329Leu) c.3935C>T (p.Pro1312Leu) c.3983C>T (p.Pro1328Leu) c.4028C>T (p.Pro1343Leu) c.3893C>T (p.Pro1298Leu) c.4025C>T (p.Pro1342Leu) n.168C>T n.316C>T n.817C>T n.151C>T n.292C>T c.3890C>T (p.Pro1297Leu) n.4186C>T | |
2 | g.71611273_71611274insCCCCCAAACAC | CA2750414240 | DYSF | c.1400_1401insCCCCCAAACAC (p.Arg470ThrfsTer?) c.617_618insCCCCCAAACAC (p.Arg209ThrfsTer?) c.575_576insCCCCCAAACAC (p.Arg195ThrfsTer?) c.3932_3933insCCCCCAAACAC (p.Arg1314ThrfsTer?) c.3986_3987insCCCCCAAACAC (p.Arg1332ThrfsTer?) c.3935_3936insCCCCCAAACAC (p.Arg1315ThrfsTer?) c.3983_3984insCCCCCAAACAC (p.Arg1331ThrfsTer?) c.4028_4029insCCCCCAAACAC (p.Arg1346ThrfsTer?) c.3893_3894insCCCCCAAACAC (p.Arg1301ThrfsTer?) c.4025_4026insCCCCCAAACAC (p.Arg1345ThrfsTer?) n.168_169insCCCCCAAACAC n.316_317insCCCCCAAACAC n.817_818insCCCCCAAACAC n.151_152insCCCCCAAACAC n.292_293insCCCCCAAACAC c.3890_3891insCCCCCAAACAC (p.Arg1300ThrfsTer?) n.4186_4187insCCCCCAAACAC | |
2 | g.71611274A= | CA1260124012 | DYSF | c.1401A= (p.Pro467=) c.618A= (p.Pro206=) c.576A= (p.Pro192=) c.3933A= (p.Pro1311=) c.3987A= (p.Pro1329=) c.3936A= (p.Pro1312=) c.3984A= (p.Pro1328=) c.4029A= (p.Pro1343=) c.3894A= (p.Pro1298=) c.4026A= (p.Pro1342=) n.169A= n.317A= n.818A= n.152A= n.293A= c.3891A= (p.Pro1297=) n.4187A= | |
2 | g.71611274A>C | CA426758617 | DYSF | c.1401A>C (p.Pro467=) c.618A>C (p.Pro206=) c.576A>C (p.Pro192=) c.3933A>C (p.Pro1311=) c.3987A>C (p.Pro1329=) c.3936A>C (p.Pro1312=) c.3984A>C (p.Pro1328=) c.4029A>C (p.Pro1343=) c.3894A>C (p.Pro1298=) c.4026A>C (p.Pro1342=) n.169A>C n.317A>C n.818A>C n.152A>C n.293A>C c.3891A>C (p.Pro1297=) n.4187A>C | dbSNP |
2 | g.71611274A>G | CA426758620 | DYSF | c.1401A>G (p.Pro467=) c.618A>G (p.Pro206=) c.576A>G (p.Pro192=) c.3933A>G (p.Pro1311=) c.3987A>G (p.Pro1329=) c.3936A>G (p.Pro1312=) c.3984A>G (p.Pro1328=) c.4029A>G (p.Pro1343=) c.3894A>G (p.Pro1298=) c.4026A>G (p.Pro1342=) n.169A>G n.317A>G n.818A>G n.152A>G n.293A>G c.3891A>G (p.Pro1297=) n.4187A>G | |
2 | g.71611274A>T | CA426758623 | DYSF | c.1401A>T (p.Pro467=) c.618A>T (p.Pro206=) c.576A>T (p.Pro192=) c.3933A>T (p.Pro1311=) c.3987A>T (p.Pro1329=) c.3936A>T (p.Pro1312=) c.3984A>T (p.Pro1328=) c.4029A>T (p.Pro1343=) c.3894A>T (p.Pro1298=) c.4026A>T (p.Pro1342=) n.169A>T n.317A>T n.818A>T n.152A>T n.293A>T c.3891A>T (p.Pro1297=) n.4187A>T | |
2 | g.71611275C>A | CA347228145 | DYSF | c.1402C>A (p.Pro468Thr) c.619C>A (p.Pro207Thr) c.577C>A (p.Pro193Thr) c.3934C>A (p.Pro1312Thr) c.3988C>A (p.Pro1330Thr) c.3937C>A (p.Pro1313Thr) c.3985C>A (p.Pro1329Thr) c.4030C>A (p.Pro1344Thr) c.3895C>A (p.Pro1299Thr) c.4027C>A (p.Pro1343Thr) n.170C>A n.318C>A n.819C>A n.153C>A n.294C>A c.3892C>A (p.Pro1298Thr) n.4188C>A | |
2 | g.71611275C>G | CA347228148 | DYSF | c.1402C>G (p.Pro468Ala) c.619C>G (p.Pro207Ala) c.577C>G (p.Pro193Ala) c.3934C>G (p.Pro1312Ala) c.3988C>G (p.Pro1330Ala) c.3937C>G (p.Pro1313Ala) c.3985C>G (p.Pro1329Ala) c.4030C>G (p.Pro1344Ala) c.3895C>G (p.Pro1299Ala) c.4027C>G (p.Pro1343Ala) n.170C>G n.318C>G n.819C>G n.153C>G n.294C>G c.3892C>G (p.Pro1298Ala) n.4188C>G | |
2 | g.71611275C>T | CA347228150 | DYSF | c.1402C>T (p.Pro468Ser) c.619C>T (p.Pro207Ser) c.577C>T (p.Pro193Ser) c.3934C>T (p.Pro1312Ser) c.3988C>T (p.Pro1330Ser) c.3937C>T (p.Pro1313Ser) c.3985C>T (p.Pro1329Ser) c.4030C>T (p.Pro1344Ser) c.3895C>T (p.Pro1299Ser) c.4027C>T (p.Pro1343Ser) n.170C>T n.318C>T n.819C>T n.153C>T n.294C>T c.3892C>T (p.Pro1298Ser) n.4188C>T | gnomAD v4 COSMIC COSMIC |
2 | g.71611278dup | CA2586969500 | DYSF | c.1405dup (p.Gln469ProfsTer?) c.622dup (p.Gln208ProfsTer?) c.580dup (p.Gln194ProfsTer?) c.3937dup (p.Gln1313ProfsTer?) c.3991dup (p.Gln1331ProfsTer?) c.3940dup (p.Gln1314ProfsTer?) c.3988dup (p.Gln1330ProfsTer?) c.4033dup (p.Gln1345ProfsTer?) c.3898dup (p.Gln1300ProfsTer?) c.4030dup (p.Gln1344ProfsTer?) n.173dup n.321dup n.822dup n.156dup n.297dup c.3895dup (p.Gln1299ProfsTer?) n.4191dup | |
2 | g.71611276C>A | CA49778561 | DYSF | c.1403C>A (p.Pro468His) c.620C>A (p.Pro207His) c.578C>A (p.Pro193His) c.3935C>A (p.Pro1312His) c.3989C>A (p.Pro1330His) c.3938C>A (p.Pro1313His) c.3986C>A (p.Pro1329His) c.4031C>A (p.Pro1344His) c.3896C>A (p.Pro1299His) c.4028C>A (p.Pro1343His) n.171C>A n.319C>A n.820C>A n.154C>A n.295C>A c.3893C>A (p.Pro1298His) n.4189C>A | dbSNP |
2 | g.71611276C= | CA1260124013 | DYSF | c.1403C= (p.Pro468=) c.620C= (p.Pro207=) c.578C= (p.Pro193=) c.3935C= (p.Pro1312=) c.3989C= (p.Pro1330=) c.3938C= (p.Pro1313=) c.3986C= (p.Pro1329=) c.4031C= (p.Pro1344=) c.3896C= (p.Pro1299=) c.4028C= (p.Pro1343=) n.171C= n.319C= n.820C= n.154C= n.295C= c.3893C= (p.Pro1298=) n.4189C= | |
2 | g.71611276C>G | CA347228156 | DYSF | c.1403C>G (p.Pro468Arg) c.620C>G (p.Pro207Arg) c.578C>G (p.Pro193Arg) c.3935C>G (p.Pro1312Arg) c.3989C>G (p.Pro1330Arg) c.3938C>G (p.Pro1313Arg) c.3986C>G (p.Pro1329Arg) c.4031C>G (p.Pro1344Arg) c.3896C>G (p.Pro1299Arg) c.4028C>G (p.Pro1343Arg) n.171C>G n.319C>G n.820C>G n.154C>G n.295C>G c.3893C>G (p.Pro1298Arg) n.4189C>G | |
2 | g.71611276C>T | CA347228159 | DYSF | c.1403C>T (p.Pro468Leu) c.620C>T (p.Pro207Leu) c.578C>T (p.Pro193Leu) c.3935C>T (p.Pro1312Leu) c.3989C>T (p.Pro1330Leu) c.3938C>T (p.Pro1313Leu) c.3986C>T (p.Pro1329Leu) c.4031C>T (p.Pro1344Leu) c.3896C>T (p.Pro1299Leu) c.4028C>T (p.Pro1343Leu) n.171C>T n.319C>T n.820C>T n.154C>T n.295C>T c.3893C>T (p.Pro1298Leu) n.4189C>T | gnomAD v4 |
2 | g.71611277C>A | CA426758627 | DYSF | c.1404C>A (p.Pro468=) c.621C>A (p.Pro207=) c.579C>A (p.Pro193=) c.3936C>A (p.Pro1312=) c.3990C>A (p.Pro1330=) c.3939C>A (p.Pro1313=) c.3987C>A (p.Pro1329=) c.4032C>A (p.Pro1344=) c.3897C>A (p.Pro1299=) c.4029C>A (p.Pro1343=) n.172C>A n.320C>A n.821C>A n.155C>A n.296C>A c.3894C>A (p.Pro1298=) n.4190C>A | |
2 | g.71611277C= | CA1260124014 | DYSF | c.1404C= (p.Pro468=) c.621C= (p.Pro207=) c.579C= (p.Pro193=) c.3936C= (p.Pro1312=) c.3990C= (p.Pro1330=) c.3939C= (p.Pro1313=) c.3987C= (p.Pro1329=) c.4032C= (p.Pro1344=) c.3897C= (p.Pro1299=) c.4029C= (p.Pro1343=) n.172C= n.320C= n.821C= n.155C= n.296C= c.3894C= (p.Pro1298=) n.4190C= | |
2 | g.71611277C>G | CA426758625 | DYSF | c.1404C>G (p.Pro468=) c.621C>G (p.Pro207=) c.579C>G (p.Pro193=) c.3936C>G (p.Pro1312=) c.3990C>G (p.Pro1330=) c.3939C>G (p.Pro1313=) c.3987C>G (p.Pro1329=) c.4032C>G (p.Pro1344=) c.3897C>G (p.Pro1299=) c.4029C>G (p.Pro1343=) n.172C>G n.320C>G n.821C>G n.155C>G n.296C>G c.3894C>G (p.Pro1298=) n.4190C>G | dbSNP |
2 | g.71611277C>T | CA426758626 | DYSF | c.1404C>T (p.Pro468=) c.621C>T (p.Pro207=) c.579C>T (p.Pro193=) c.3936C>T (p.Pro1312=) c.3990C>T (p.Pro1330=) c.3939C>T (p.Pro1313=) c.3987C>T (p.Pro1329=) c.4032C>T (p.Pro1344=) c.3897C>T (p.Pro1299=) c.4029C>T (p.Pro1343=) n.172C>T n.320C>T n.821C>T n.155C>T n.296C>T c.3894C>T (p.Pro1298=) n.4190C>T | |
2 | g.71611277_71611278insAACA | CA2750414241 | DYSF | c.1404_1405insAACA (p.Gln469AsnfsTer?) c.621_622insAACA (p.Gln208AsnfsTer?) c.579_580insAACA (p.Gln194AsnfsTer?) c.3936_3937insAACA (p.Gln1313AsnfsTer?) c.3990_3991insAACA (p.Gln1331AsnfsTer?) c.3939_3940insAACA (p.Gln1314AsnfsTer?) c.3987_3988insAACA (p.Gln1330AsnfsTer?) c.4032_4033insAACA (p.Gln1345AsnfsTer?) c.3897_3898insAACA (p.Gln1300AsnfsTer?) c.4029_4030insAACA (p.Gln1344AsnfsTer?) n.172_173insAACA n.320_321insAACA n.821_822insAACA n.155_156insAACA n.296_297insAACA c.3894_3895insAACA (p.Gln1299AsnfsTer?) n.4190_4191insAACA | |
2 | g.71611278C>A | CA347228162 | DYSF | c.1405C>A (p.Gln469Lys) c.622C>A (p.Gln208Lys) c.580C>A (p.Gln194Lys) c.3937C>A (p.Gln1313Lys) c.3991C>A (p.Gln1331Lys) c.3940C>A (p.Gln1314Lys) c.3988C>A (p.Gln1330Lys) c.4033C>A (p.Gln1345Lys) c.3898C>A (p.Gln1300Lys) c.4030C>A (p.Gln1344Lys) n.173C>A n.321C>A n.822C>A n.156C>A n.297C>A c.3895C>A (p.Gln1299Lys) n.4191C>A | |
2 | g.71611278C= | CA1260124015 | DYSF | c.1405C= (p.Gln469=) c.622C= (p.Gln208=) c.580C= (p.Gln194=) c.3937C= (p.Gln1313=) c.3991C= (p.Gln1331=) c.3940C= (p.Gln1314=) c.3988C= (p.Gln1330=) c.4033C= (p.Gln1345=) c.3898C= (p.Gln1300=) c.4030C= (p.Gln1344=) n.173C= n.321C= n.822C= n.156C= n.297C= c.3895C= (p.Gln1299=) n.4191C= | |
2 | g.71611278C>G | CA347228164 | DYSF | c.1405C>G (p.Gln469Glu) c.622C>G (p.Gln208Glu) c.580C>G (p.Gln194Glu) c.3937C>G (p.Gln1313Glu) c.3991C>G (p.Gln1331Glu) c.3940C>G (p.Gln1314Glu) c.3988C>G (p.Gln1330Glu) c.4033C>G (p.Gln1345Glu) c.3898C>G (p.Gln1300Glu) c.4030C>G (p.Gln1344Glu) n.173C>G n.321C>G n.822C>G n.156C>G n.297C>G c.3895C>G (p.Gln1299Glu) n.4191C>G | |
2 | g.71611278C>T | CA347228166 | DYSF | c.1405C>T (p.Gln469Ter) c.622C>T (p.Gln208Ter) c.580C>T (p.Gln194Ter) c.3937C>T (p.Gln1313Ter) c.3991C>T (p.Gln1331Ter) c.3940C>T (p.Gln1314Ter) c.3988C>T (p.Gln1330Ter) c.4033C>T (p.Gln1345Ter) c.3898C>T (p.Gln1300Ter) c.4030C>T (p.Gln1344Ter) n.173C>T n.321C>T n.822C>T n.156C>T n.297C>T c.3895C>T (p.Gln1299Ter) n.4191C>T | ClinVar dbSNP |
2 | g.71611279A>C | CA347228173 | DYSF | c.1406A>C (p.Gln469Pro) c.623A>C (p.Gln208Pro) c.581A>C (p.Gln194Pro) c.3938A>C (p.Gln1313Pro) c.3992A>C (p.Gln1331Pro) c.3941A>C (p.Gln1314Pro) c.3989A>C (p.Gln1330Pro) c.4034A>C (p.Gln1345Pro) c.3899A>C (p.Gln1300Pro) c.4031A>C (p.Gln1344Pro) n.174A>C n.322A>C n.823A>C n.157A>C n.298A>C c.3896A>C (p.Gln1299Pro) n.4192A>C | |
2 | g.71611279A>G | CA347228175 | DYSF | c.1406A>G (p.Gln469Arg) c.623A>G (p.Gln208Arg) c.581A>G (p.Gln194Arg) c.3938A>G (p.Gln1313Arg) c.3992A>G (p.Gln1331Arg) c.3941A>G (p.Gln1314Arg) c.3989A>G (p.Gln1330Arg) c.4034A>G (p.Gln1345Arg) c.3899A>G (p.Gln1300Arg) c.4031A>G (p.Gln1344Arg) n.174A>G n.322A>G n.823A>G n.157A>G n.298A>G c.3896A>G (p.Gln1299Arg) n.4192A>G | |
2 | g.71611279A>T | CA347228169 | DYSF | c.1406A>T (p.Gln469Leu) c.623A>T (p.Gln208Leu) c.581A>T (p.Gln194Leu) c.3938A>T (p.Gln1313Leu) c.3992A>T (p.Gln1331Leu) c.3941A>T (p.Gln1314Leu) c.3989A>T (p.Gln1330Leu) c.4034A>T (p.Gln1345Leu) c.3899A>T (p.Gln1300Leu) c.4031A>T (p.Gln1344Leu) n.174A>T n.322A>T n.823A>T n.157A>T n.298A>T c.3896A>T (p.Gln1299Leu) n.4192A>T | |
2 | g.71611280G>A | CA426758629 | DYSF | c.1407G>A (p.Gln469=) c.624G>A (p.Gln208=) c.582G>A (p.Gln194=) c.3939G>A (p.Gln1313=) c.3993G>A (p.Gln1331=) c.3942G>A (p.Gln1314=) c.3990G>A (p.Gln1330=) c.4035G>A (p.Gln1345=) c.3900G>A (p.Gln1300=) c.4032G>A (p.Gln1344=) n.175G>A n.323G>A n.824G>A n.158G>A n.299G>A c.3897G>A (p.Gln1299=) n.4193G>A | |
2 | g.71611280G>C | CA347228177 | DYSF | c.1407G>C (p.Gln469His) c.624G>C (p.Gln208His) c.582G>C (p.Gln194His) c.3939G>C (p.Gln1313His) c.3993G>C (p.Gln1331His) c.3942G>C (p.Gln1314His) c.3990G>C (p.Gln1330His) c.4035G>C (p.Gln1345His) c.3900G>C (p.Gln1300His) c.4032G>C (p.Gln1344His) n.175G>C n.323G>C n.824G>C n.158G>C n.299G>C c.3897G>C (p.Gln1299His) n.4193G>C | |
2 | g.71611280G>T | CA347228178 | DYSF | c.1407G>T (p.Gln469His) c.624G>T (p.Gln208His) c.582G>T (p.Gln194His) c.3939G>T (p.Gln1313His) c.3993G>T (p.Gln1331His) c.3942G>T (p.Gln1314His) c.3990G>T (p.Gln1330His) c.4035G>T (p.Gln1345His) c.3900G>T (p.Gln1300His) c.4032G>T (p.Gln1344His) n.175G>T n.323G>T n.824G>T n.158G>T n.299G>T c.3897G>T (p.Gln1299His) n.4193G>T | |
2 | g.71611281A= | CA1260124016 | DYSF | c.1408A= (p.Arg470=) c.625A= (p.Arg209=) c.583A= (p.Arg195=) c.3940A= (p.Arg1314=) c.3994A= (p.Arg1332=) c.3943A= (p.Arg1315=) c.3991A= (p.Arg1331=) c.4036A= (p.Arg1346=) c.3901A= (p.Arg1301=) c.4033A= (p.Arg1345=) n.176A= n.324A= n.825A= n.159A= n.300A= c.3898A= (p.Arg1300=) n.4194A= | |
2 | g.71611281A>C | CA426758634 | DYSF | c.1408A>C (p.Arg470=) c.625A>C (p.Arg209=) c.583A>C (p.Arg195=) c.3940A>C (p.Arg1314=) c.3994A>C (p.Arg1332=) c.3943A>C (p.Arg1315=) c.3991A>C (p.Arg1331=) c.4036A>C (p.Arg1346=) c.3901A>C (p.Arg1301=) c.4033A>C (p.Arg1345=) n.176A>C n.324A>C n.825A>C n.159A>C n.300A>C c.3898A>C (p.Arg1300=) n.4194A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611281A>G | CA347228179 | DYSF | c.1408A>G (p.Arg470Gly) c.625A>G (p.Arg209Gly) c.583A>G (p.Arg195Gly) c.3940A>G (p.Arg1314Gly) c.3994A>G (p.Arg1332Gly) c.3943A>G (p.Arg1315Gly) c.3991A>G (p.Arg1331Gly) c.4036A>G (p.Arg1346Gly) c.3901A>G (p.Arg1301Gly) c.4033A>G (p.Arg1345Gly) n.176A>G n.324A>G n.825A>G n.159A>G n.300A>G c.3898A>G (p.Arg1300Gly) n.4194A>G | |
2 | g.71611281A>T | CA347228181 | DYSF | c.1408A>T (p.Arg470Trp) c.625A>T (p.Arg209Trp) c.583A>T (p.Arg195Trp) c.3940A>T (p.Arg1314Trp) c.3994A>T (p.Arg1332Trp) c.3943A>T (p.Arg1315Trp) c.3991A>T (p.Arg1331Trp) c.4036A>T (p.Arg1346Trp) c.3901A>T (p.Arg1301Trp) c.4033A>T (p.Arg1345Trp) n.176A>T n.324A>T n.825A>T n.159A>T n.300A>T c.3898A>T (p.Arg1300Trp) n.4194A>T | |
2 | g.71611282G>A | CA347228185 | DYSF | c.1409G>A (p.Arg470Lys) c.626G>A (p.Arg209Lys) c.584G>A (p.Arg195Lys) c.3941G>A (p.Arg1314Lys) c.3995G>A (p.Arg1332Lys) c.3944G>A (p.Arg1315Lys) c.3992G>A (p.Arg1331Lys) c.4037G>A (p.Arg1346Lys) c.3902G>A (p.Arg1301Lys) c.4034G>A (p.Arg1345Lys) n.177G>A n.325G>A n.826G>A n.160G>A n.301G>A c.3899G>A (p.Arg1300Lys) n.4195G>A | |
2 | g.71611282G>C | CA347228187 | DYSF | c.1409G>C (p.Arg470Thr) c.626G>C (p.Arg209Thr) c.584G>C (p.Arg195Thr) c.3941G>C (p.Arg1314Thr) c.3995G>C (p.Arg1332Thr) c.3944G>C (p.Arg1315Thr) c.3992G>C (p.Arg1331Thr) c.4037G>C (p.Arg1346Thr) c.3902G>C (p.Arg1301Thr) c.4034G>C (p.Arg1345Thr) n.177G>C n.325G>C n.826G>C n.160G>C n.301G>C c.3899G>C (p.Arg1300Thr) n.4195G>C | |
2 | g.71611282G>T | CA347228189 | DYSF | c.1409G>T (p.Arg470Met) c.626G>T (p.Arg209Met) c.584G>T (p.Arg195Met) c.3941G>T (p.Arg1314Met) c.3995G>T (p.Arg1332Met) c.3944G>T (p.Arg1315Met) c.3992G>T (p.Arg1331Met) c.4037G>T (p.Arg1346Met) c.3902G>T (p.Arg1301Met) c.4034G>T (p.Arg1345Met) n.177G>T n.325G>T n.826G>T n.160G>T n.301G>T c.3899G>T (p.Arg1300Met) n.4195G>T | |
2 | g.71611283G>A | CA426758639 | DYSF | c.1410G>A (p.Arg470=) c.627G>A (p.Arg209=) c.585G>A (p.Arg195=) c.3942G>A (p.Arg1314=) c.3996G>A (p.Arg1332=) c.3945G>A (p.Arg1315=) c.3993G>A (p.Arg1331=) c.4038G>A (p.Arg1346=) c.3903G>A (p.Arg1301=) c.4035G>A (p.Arg1345=) n.178G>A n.326G>A n.827G>A n.161G>A n.302G>A c.3900G>A (p.Arg1300=) n.4196G>A | COSMIC COSMIC |
2 | g.71611283G>C | CA347228192 | DYSF | c.1410G>C (p.Arg470Ser) c.627G>C (p.Arg209Ser) c.585G>C (p.Arg195Ser) c.3942G>C (p.Arg1314Ser) c.3996G>C (p.Arg1332Ser) c.3945G>C (p.Arg1315Ser) c.3993G>C (p.Arg1331Ser) c.4038G>C (p.Arg1346Ser) c.3903G>C (p.Arg1301Ser) c.4035G>C (p.Arg1345Ser) n.178G>C n.326G>C n.827G>C n.161G>C n.302G>C c.3900G>C (p.Arg1300Ser) n.4196G>C | |
2 | g.71611283G>T | CA347228194 | DYSF | c.1410G>T (p.Arg470Ser) c.627G>T (p.Arg209Ser) c.585G>T (p.Arg195Ser) c.3942G>T (p.Arg1314Ser) c.3996G>T (p.Arg1332Ser) c.3945G>T (p.Arg1315Ser) c.3993G>T (p.Arg1331Ser) c.4038G>T (p.Arg1346Ser) c.3903G>T (p.Arg1301Ser) c.4035G>T (p.Arg1345Ser) n.178G>T n.326G>T n.827G>T n.161G>T n.302G>T c.3900G>T (p.Arg1300Ser) n.4196G>T | |
2 | g.71611284G>A | CA347228197 | DYSF | c.1411G>A (p.Glu471Lys) c.628G>A (p.Glu210Lys) c.586G>A (p.Glu196Lys) c.3943G>A (p.Glu1315Lys) c.3997G>A (p.Glu1333Lys) c.3946G>A (p.Glu1316Lys) c.3994G>A (p.Glu1332Lys) c.4039G>A (p.Glu1347Lys) c.3904G>A (p.Glu1302Lys) c.4036G>A (p.Glu1346Lys) n.179G>A n.327G>A n.828G>A n.162G>A n.303G>A c.3901G>A (p.Glu1301Lys) n.4197G>A | |
2 | g.71611284G>C | CA347228198 | DYSF | c.1411G>C (p.Glu471Gln) c.628G>C (p.Glu210Gln) c.586G>C (p.Glu196Gln) c.3943G>C (p.Glu1315Gln) c.3997G>C (p.Glu1333Gln) c.3946G>C (p.Glu1316Gln) c.3994G>C (p.Glu1332Gln) c.4039G>C (p.Glu1347Gln) c.3904G>C (p.Glu1302Gln) c.4036G>C (p.Glu1346Gln) n.179G>C n.327G>C n.828G>C n.162G>C n.303G>C c.3901G>C (p.Glu1301Gln) n.4197G>C | gnomAD v4 |
2 | g.71611284G>T | CA347228201 | DYSF | c.1411G>T (p.Glu471Ter) c.628G>T (p.Glu210Ter) c.586G>T (p.Glu196Ter) c.3943G>T (p.Glu1315Ter) c.3997G>T (p.Glu1333Ter) c.3946G>T (p.Glu1316Ter) c.3994G>T (p.Glu1332Ter) c.4039G>T (p.Glu1347Ter) c.3904G>T (p.Glu1302Ter) c.4036G>T (p.Glu1346Ter) n.179G>T n.327G>T n.828G>T n.162G>T n.303G>T c.3901G>T (p.Glu1301Ter) n.4197G>T | gnomAD v4 |
2 | g.71611285A>C | CA347228204 | DYSF | c.1412A>C (p.Glu471Ala) c.629A>C (p.Glu210Ala) c.587A>C (p.Glu196Ala) c.3944A>C (p.Glu1315Ala) c.3998A>C (p.Glu1333Ala) c.3947A>C (p.Glu1316Ala) c.3995A>C (p.Glu1332Ala) c.4040A>C (p.Glu1347Ala) c.3905A>C (p.Glu1302Ala) c.4037A>C (p.Glu1346Ala) n.180A>C n.328A>C n.829A>C n.163A>C n.304A>C c.3902A>C (p.Glu1301Ala) n.4198A>C | |
2 | g.71611285A>G | CA347228206 | DYSF | c.1412A>G (p.Glu471Gly) c.629A>G (p.Glu210Gly) c.587A>G (p.Glu196Gly) c.3944A>G (p.Glu1315Gly) c.3998A>G (p.Glu1333Gly) c.3947A>G (p.Glu1316Gly) c.3995A>G (p.Glu1332Gly) c.4040A>G (p.Glu1347Gly) c.3905A>G (p.Glu1302Gly) c.4037A>G (p.Glu1346Gly) n.180A>G n.328A>G n.829A>G n.163A>G n.304A>G c.3902A>G (p.Glu1301Gly) n.4198A>G | gnomAD v4 |
2 | g.71611285A>T | CA347228208 | DYSF | c.1412A>T (p.Glu471Val) c.629A>T (p.Glu210Val) c.587A>T (p.Glu196Val) c.3944A>T (p.Glu1315Val) c.3998A>T (p.Glu1333Val) c.3947A>T (p.Glu1316Val) c.3995A>T (p.Glu1332Val) c.4040A>T (p.Glu1347Val) c.3905A>T (p.Glu1302Val) c.4037A>T (p.Glu1346Val) n.180A>T n.328A>T n.829A>T n.163A>T n.304A>T c.3902A>T (p.Glu1301Val) n.4198A>T | |
2 | g.71611286G>A | CA426758646 | DYSF | c.1413G>A (p.Glu471=) c.630G>A (p.Glu210=) c.588G>A (p.Glu196=) c.3945G>A (p.Glu1315=) c.3999G>A (p.Glu1333=) c.3948G>A (p.Glu1316=) c.3996G>A (p.Glu1332=) c.4041G>A (p.Glu1347=) c.3906G>A (p.Glu1302=) c.4038G>A (p.Glu1346=) n.181G>A n.329G>A n.830G>A n.164G>A n.305G>A c.3903G>A (p.Glu1301=) n.4199G>A | ClinVar |
2 | g.71611286G>C | CA347228212 | DYSF | c.1413G>C (p.Glu471Asp) c.630G>C (p.Glu210Asp) c.588G>C (p.Glu196Asp) c.3945G>C (p.Glu1315Asp) c.3999G>C (p.Glu1333Asp) c.3948G>C (p.Glu1316Asp) c.3996G>C (p.Glu1332Asp) c.4041G>C (p.Glu1347Asp) c.3906G>C (p.Glu1302Asp) c.4038G>C (p.Glu1346Asp) n.181G>C n.329G>C n.830G>C n.164G>C n.305G>C c.3903G>C (p.Glu1301Asp) n.4199G>C | |
2 | g.71611286G>T | CA347228215 | DYSF | c.1413G>T (p.Glu471Asp) c.630G>T (p.Glu210Asp) c.588G>T (p.Glu196Asp) c.3945G>T (p.Glu1315Asp) c.3999G>T (p.Glu1333Asp) c.3948G>T (p.Glu1316Asp) c.3996G>T (p.Glu1332Asp) c.4041G>T (p.Glu1347Asp) c.3906G>T (p.Glu1302Asp) c.4038G>T (p.Glu1346Asp) n.181G>T n.329G>T n.830G>T n.164G>T n.305G>T c.3903G>T (p.Glu1301Asp) n.4199G>T | |
2 | g.71611287G>A | CA347228219 | DYSF | c.1414G>A (p.Ala472Thr) c.631G>A (p.Ala211Thr) c.589G>A (p.Ala197Thr) c.3946G>A (p.Ala1316Thr) c.4000G>A (p.Ala1334Thr) c.3949G>A (p.Ala1317Thr) c.3997G>A (p.Ala1333Thr) c.4042G>A (p.Ala1348Thr) c.3907G>A (p.Ala1303Thr) c.4039G>A (p.Ala1347Thr) n.182G>A n.330G>A n.831G>A n.165G>A n.306G>A c.3904G>A (p.Ala1302Thr) n.4200G>A | |
2 | g.71611287G>C | CA347228222 | DYSF | c.1414G>C (p.Ala472Pro) c.631G>C (p.Ala211Pro) c.589G>C (p.Ala197Pro) c.3946G>C (p.Ala1316Pro) c.4000G>C (p.Ala1334Pro) c.3949G>C (p.Ala1317Pro) c.3997G>C (p.Ala1333Pro) c.4042G>C (p.Ala1348Pro) c.3907G>C (p.Ala1303Pro) c.4039G>C (p.Ala1347Pro) n.182G>C n.330G>C n.831G>C n.165G>C n.306G>C c.3904G>C (p.Ala1302Pro) n.4200G>C | |
2 | g.71611287G>T | CA347228224 | DYSF | c.1414G>T (p.Ala472Ser) c.631G>T (p.Ala211Ser) c.589G>T (p.Ala197Ser) c.3946G>T (p.Ala1316Ser) c.4000G>T (p.Ala1334Ser) c.3949G>T (p.Ala1317Ser) c.3997G>T (p.Ala1333Ser) c.4042G>T (p.Ala1348Ser) c.3907G>T (p.Ala1303Ser) c.4039G>T (p.Ala1347Ser) n.182G>T n.330G>T n.831G>T n.165G>T n.306G>T c.3904G>T (p.Ala1302Ser) n.4200G>T | |
2 | g.71611288C>A | CA347228228 | DYSF | c.1415C>A (p.Ala472Asp) c.632C>A (p.Ala211Asp) c.590C>A (p.Ala197Asp) c.3947C>A (p.Ala1316Asp) c.4001C>A (p.Ala1334Asp) c.3950C>A (p.Ala1317Asp) c.3998C>A (p.Ala1333Asp) c.4043C>A (p.Ala1348Asp) c.3908C>A (p.Ala1303Asp) c.4040C>A (p.Ala1347Asp) n.183C>A n.331C>A n.832C>A n.166C>A n.307C>A c.3905C>A (p.Ala1302Asp) n.4201C>A | |
2 | g.71611288C= | CA1260124017 | DYSF | c.1415C= (p.Ala472=) c.632C= (p.Ala211=) c.590C= (p.Ala197=) c.3947C= (p.Ala1316=) c.4001C= (p.Ala1334=) c.3950C= (p.Ala1317=) c.3998C= (p.Ala1333=) c.4043C= (p.Ala1348=) c.3908C= (p.Ala1303=) c.4040C= (p.Ala1347=) n.183C= n.331C= n.832C= n.166C= n.307C= c.3905C= (p.Ala1302=) n.4201C= | |
2 | g.71611288C>G | CA347228230 | DYSF | c.1415C>G (p.Ala472Gly) c.632C>G (p.Ala211Gly) c.590C>G (p.Ala197Gly) c.3947C>G (p.Ala1316Gly) c.4001C>G (p.Ala1334Gly) c.3950C>G (p.Ala1317Gly) c.3998C>G (p.Ala1333Gly) c.4043C>G (p.Ala1348Gly) c.3908C>G (p.Ala1303Gly) c.4040C>G (p.Ala1347Gly) n.183C>G n.331C>G n.832C>G n.166C>G n.307C>G c.3905C>G (p.Ala1302Gly) n.4201C>G | |
2 | g.71611288C>T | CA347228231 | DYSF | c.1415C>T (p.Ala472Val) c.632C>T (p.Ala211Val) c.590C>T (p.Ala197Val) c.3947C>T (p.Ala1316Val) c.4001C>T (p.Ala1334Val) c.3950C>T (p.Ala1317Val) c.3998C>T (p.Ala1333Val) c.4043C>T (p.Ala1348Val) c.3908C>T (p.Ala1303Val) c.4040C>T (p.Ala1347Val) n.183C>T n.331C>T n.832C>T n.166C>T n.307C>T c.3905C>T (p.Ala1302Val) n.4201C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611289C>A | CA426758660 | DYSF | c.1416C>A (p.Ala472=) c.633C>A (p.Ala211=) c.591C>A (p.Ala197=) c.3948C>A (p.Ala1316=) c.4002C>A (p.Ala1334=) c.3951C>A (p.Ala1317=) c.3999C>A (p.Ala1333=) c.4044C>A (p.Ala1348=) c.3909C>A (p.Ala1303=) c.4041C>A (p.Ala1347=) n.184C>A n.332C>A n.833C>A n.167C>A n.308C>A c.3906C>A (p.Ala1302=) n.4202C>A | |
2 | g.71611289C>G | CA426758661 | DYSF | c.1416C>G (p.Ala472=) c.633C>G (p.Ala211=) c.591C>G (p.Ala197=) c.3948C>G (p.Ala1316=) c.4002C>G (p.Ala1334=) c.3951C>G (p.Ala1317=) c.3999C>G (p.Ala1333=) c.4044C>G (p.Ala1348=) c.3909C>G (p.Ala1303=) c.4041C>G (p.Ala1347=) n.184C>G n.332C>G n.833C>G n.167C>G n.308C>G c.3906C>G (p.Ala1302=) n.4202C>G | |
2 | g.71611289C>T | CA426758662 | DYSF | c.1416C>T (p.Ala472=) c.633C>T (p.Ala211=) c.591C>T (p.Ala197=) c.3948C>T (p.Ala1316=) c.4002C>T (p.Ala1334=) c.3951C>T (p.Ala1317=) c.3999C>T (p.Ala1333=) c.4044C>T (p.Ala1348=) c.3909C>T (p.Ala1303=) c.4041C>T (p.Ala1347=) n.184C>T n.332C>T n.833C>T n.167C>T n.308C>T c.3906C>T (p.Ala1302=) n.4202C>T | |
2 | g.71611290A= | CA1260124018 | DYSF | c.1417A= (p.Asn473=) c.634A= (p.Asn212=) c.592A= (p.Asn198=) c.3949A= (p.Asn1317=) c.4003A= (p.Asn1335=) c.3952A= (p.Asn1318=) c.4000A= (p.Asn1334=) c.4045A= (p.Asn1349=) c.3910A= (p.Asn1304=) c.4042A= (p.Asn1348=) n.185A= n.333A= n.834A= n.168A= n.309A= c.3907A= (p.Asn1303=) n.4203A= | |
2 | g.71611290A>C | CA347228238 | DYSF | c.1417A>C (p.Asn473His) c.634A>C (p.Asn212His) c.592A>C (p.Asn198His) c.3949A>C (p.Asn1317His) c.4003A>C (p.Asn1335His) c.3952A>C (p.Asn1318His) c.4000A>C (p.Asn1334His) c.4045A>C (p.Asn1349His) c.3910A>C (p.Asn1304His) c.4042A>C (p.Asn1348His) n.185A>C n.333A>C n.834A>C n.168A>C n.309A>C c.3907A>C (p.Asn1303His) n.4203A>C | |
2 | g.71611290A>G | CA347228236 | DYSF | c.1417A>G (p.Asn473Asp) c.634A>G (p.Asn212Asp) c.592A>G (p.Asn198Asp) c.3949A>G (p.Asn1317Asp) c.4003A>G (p.Asn1335Asp) c.3952A>G (p.Asn1318Asp) c.4000A>G (p.Asn1334Asp) c.4045A>G (p.Asn1349Asp) c.3910A>G (p.Asn1304Asp) c.4042A>G (p.Asn1348Asp) n.185A>G n.333A>G n.834A>G n.168A>G n.309A>G c.3907A>G (p.Asn1303Asp) n.4203A>G | dbSNP gnomAD v4 |
2 | g.71611290A>T | CA347228234 | DYSF | c.1417A>T (p.Asn473Tyr) c.634A>T (p.Asn212Tyr) c.592A>T (p.Asn198Tyr) c.3949A>T (p.Asn1317Tyr) c.4003A>T (p.Asn1335Tyr) c.3952A>T (p.Asn1318Tyr) c.4000A>T (p.Asn1334Tyr) c.4045A>T (p.Asn1349Tyr) c.3910A>T (p.Asn1304Tyr) c.4042A>T (p.Asn1348Tyr) n.185A>T n.333A>T n.834A>T n.168A>T n.309A>T c.3907A>T (p.Asn1303Tyr) n.4203A>T | |
2 | g.71611291A= | CA1260124019 | DYSF | c.1418A= (p.Asn473=) c.635A= (p.Asn212=) c.593A= (p.Asn198=) c.3950A= (p.Asn1317=) c.4004A= (p.Asn1335=) c.3953A= (p.Asn1318=) c.4001A= (p.Asn1334=) c.4046A= (p.Asn1349=) c.3911A= (p.Asn1304=) c.4043A= (p.Asn1348=) n.186A= n.334A= n.835A= n.169A= n.310A= c.3908A= (p.Asn1303=) n.4204A= | |
2 | g.71611291A>C | CA347228241 | DYSF | c.1418A>C (p.Asn473Thr) c.635A>C (p.Asn212Thr) c.593A>C (p.Asn198Thr) c.3950A>C (p.Asn1317Thr) c.4004A>C (p.Asn1335Thr) c.3953A>C (p.Asn1318Thr) c.4001A>C (p.Asn1334Thr) c.4046A>C (p.Asn1349Thr) c.3911A>C (p.Asn1304Thr) c.4043A>C (p.Asn1348Thr) n.186A>C n.334A>C n.835A>C n.169A>C n.310A>C c.3908A>C (p.Asn1303Thr) n.4204A>C | |
2 | g.71611291A>G | CA347228244 | DYSF | c.1418A>G (p.Asn473Ser) c.635A>G (p.Asn212Ser) c.593A>G (p.Asn198Ser) c.3950A>G (p.Asn1317Ser) c.4004A>G (p.Asn1335Ser) c.3953A>G (p.Asn1318Ser) c.4001A>G (p.Asn1334Ser) c.4046A>G (p.Asn1349Ser) c.3911A>G (p.Asn1304Ser) c.4043A>G (p.Asn1348Ser) n.186A>G n.334A>G n.835A>G n.169A>G n.310A>G c.3908A>G (p.Asn1303Ser) n.4204A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611291A>T | CA49778567 | DYSF | c.1418A>T (p.Asn473Ile) c.635A>T (p.Asn212Ile) c.593A>T (p.Asn198Ile) c.3950A>T (p.Asn1317Ile) c.4004A>T (p.Asn1335Ile) c.3953A>T (p.Asn1318Ile) c.4001A>T (p.Asn1334Ile) c.4046A>T (p.Asn1349Ile) c.3911A>T (p.Asn1304Ile) c.4043A>T (p.Asn1348Ile) n.186A>T n.334A>T n.835A>T n.169A>T n.310A>T c.3908A>T (p.Asn1303Ile) n.4204A>T | dbSNP gnomAD v4 |
2 | g.71611292C>A | CA347228247 | DYSF | c.1419C>A (p.Asn473Lys) c.636C>A (p.Asn212Lys) c.594C>A (p.Asn198Lys) c.3951C>A (p.Asn1317Lys) c.4005C>A (p.Asn1335Lys) c.3954C>A (p.Asn1318Lys) c.4002C>A (p.Asn1334Lys) c.4047C>A (p.Asn1349Lys) c.3912C>A (p.Asn1304Lys) c.4044C>A (p.Asn1348Lys) n.187C>A n.335C>A n.836C>A n.170C>A n.311C>A c.3909C>A (p.Asn1303Lys) n.4205C>A | |
2 | g.71611292C= | CA1260124020 | DYSF | c.1419C= (p.Asn473=) c.636C= (p.Asn212=) c.594C= (p.Asn198=) c.3951C= (p.Asn1317=) c.4005C= (p.Asn1335=) c.3954C= (p.Asn1318=) c.4002C= (p.Asn1334=) c.4047C= (p.Asn1349=) c.3912C= (p.Asn1304=) c.4044C= (p.Asn1348=) n.187C= n.335C= n.836C= n.170C= n.311C= c.3909C= (p.Asn1303=) n.4205C= | |
2 | g.71611292C>G | CA347228248 | DYSF | c.1419C>G (p.Asn473Lys) c.636C>G (p.Asn212Lys) c.594C>G (p.Asn198Lys) c.3951C>G (p.Asn1317Lys) c.4005C>G (p.Asn1335Lys) c.3954C>G (p.Asn1318Lys) c.4002C>G (p.Asn1334Lys) c.4047C>G (p.Asn1349Lys) c.3912C>G (p.Asn1304Lys) c.4044C>G (p.Asn1348Lys) n.187C>G n.335C>G n.836C>G n.170C>G n.311C>G c.3909C>G (p.Asn1303Lys) n.4205C>G | |
2 | g.71611292C>T | CA1706835 | DYSF | c.1419C>T (p.Asn473=) c.636C>T (p.Asn212=) c.594C>T (p.Asn198=) c.3951C>T (p.Asn1317=) c.4005C>T (p.Asn1335=) c.3954C>T (p.Asn1318=) c.4002C>T (p.Asn1334=) c.4047C>T (p.Asn1349=) c.3912C>T (p.Asn1304=) c.4044C>T (p.Asn1348=) n.187C>T n.335C>T n.836C>T n.170C>T n.311C>T c.3909C>T (p.Asn1303=) n.4205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611293A= | CA1260124021 | DYSF | c.1420A= (p.Ile474=) c.637A= (p.Ile213=) c.595A= (p.Ile199=) c.3952A= (p.Ile1318=) c.4006A= (p.Ile1336=) c.3955A= (p.Ile1319=) c.4003A= (p.Ile1335=) c.4048A= (p.Ile1350=) c.3913A= (p.Ile1305=) c.4045A= (p.Ile1349=) n.188A= n.336A= n.837A= n.171A= n.312A= c.3910A= (p.Ile1304=) n.4206A= | |
2 | g.71611293A>C | CA347228252 | DYSF | c.1420A>C (p.Ile474Leu) c.637A>C (p.Ile213Leu) c.595A>C (p.Ile199Leu) c.3952A>C (p.Ile1318Leu) c.4006A>C (p.Ile1336Leu) c.3955A>C (p.Ile1319Leu) c.4003A>C (p.Ile1335Leu) c.4048A>C (p.Ile1350Leu) c.3913A>C (p.Ile1305Leu) c.4045A>C (p.Ile1349Leu) n.188A>C n.336A>C n.837A>C n.171A>C n.312A>C c.3910A>C (p.Ile1304Leu) n.4206A>C | |
2 | g.71611293A>G | CA1706837 | DYSF | c.1420A>G (p.Ile474Val) c.637A>G (p.Ile213Val) c.595A>G (p.Ile199Val) c.3952A>G (p.Ile1318Val) c.4006A>G (p.Ile1336Val) c.3955A>G (p.Ile1319Val) c.4003A>G (p.Ile1335Val) c.4048A>G (p.Ile1350Val) c.3913A>G (p.Ile1305Val) c.4045A>G (p.Ile1349Val) n.188A>G n.336A>G n.837A>G n.171A>G n.312A>G c.3910A>G (p.Ile1304Val) n.4206A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611293A>T | CA1706836 | DYSF | c.1420A>T (p.Ile474Phe) c.637A>T (p.Ile213Phe) c.595A>T (p.Ile199Phe) c.3952A>T (p.Ile1318Phe) c.4006A>T (p.Ile1336Phe) c.3955A>T (p.Ile1319Phe) c.4003A>T (p.Ile1335Phe) c.4048A>T (p.Ile1350Phe) c.3913A>T (p.Ile1305Phe) c.4045A>T (p.Ile1349Phe) n.188A>T n.336A>T n.837A>T n.171A>T n.312A>T c.3910A>T (p.Ile1304Phe) n.4206A>T | dbSNP ExAC gnomAD v2 |
2 | g.71611293_71611294dup | CA2586969501 | DYSF | c.1420_1421dup (p.Tyr475SerfsTer27) c.637_638dup (p.Tyr214SerfsTer27) c.595_596dup (p.Tyr200SerfsTer27) c.3952_3953dup (p.Tyr1319SerfsTer27) c.4006_4007dup (p.Tyr1337SerfsTer27) c.3955_3956dup (p.Tyr1320SerfsTer27) c.4003_4004dup (p.Tyr1336SerfsTer27) c.4048_4049dup (p.Tyr1351SerfsTer27) c.3913_3914dup (p.Tyr1306SerfsTer27) c.4045_4046dup (p.Tyr1350SerfsTer27) n.188_189dup n.336_337dup n.837_838dup n.171_172dup n.312_313dup c.3910_3911dup (p.Tyr1305SerfsTer27) n.4206_4207dup | |
2 | g.71611294T>A | CA347228255 | DYSF | c.1421T>A (p.Ile474Asn) c.638T>A (p.Ile213Asn) c.596T>A (p.Ile199Asn) c.3953T>A (p.Ile1318Asn) c.4007T>A (p.Ile1336Asn) c.3956T>A (p.Ile1319Asn) c.4004T>A (p.Ile1335Asn) c.4049T>A (p.Ile1350Asn) c.3914T>A (p.Ile1305Asn) c.4046T>A (p.Ile1349Asn) n.189T>A n.337T>A n.838T>A n.172T>A n.313T>A c.3911T>A (p.Ile1304Asn) n.4207T>A | |
2 | g.71611294T>C | CA347228257 | DYSF | c.1421T>C (p.Ile474Thr) c.638T>C (p.Ile213Thr) c.596T>C (p.Ile199Thr) c.3953T>C (p.Ile1318Thr) c.4007T>C (p.Ile1336Thr) c.3956T>C (p.Ile1319Thr) c.4004T>C (p.Ile1335Thr) c.4049T>C (p.Ile1350Thr) c.3914T>C (p.Ile1305Thr) c.4046T>C (p.Ile1349Thr) n.189T>C n.337T>C n.838T>C n.172T>C n.313T>C c.3911T>C (p.Ile1304Thr) n.4207T>C | |
2 | g.71611294T>G | CA347228259 | DYSF | c.1421T>G (p.Ile474Ser) c.638T>G (p.Ile213Ser) c.596T>G (p.Ile199Ser) c.3953T>G (p.Ile1318Ser) c.4007T>G (p.Ile1336Ser) c.3956T>G (p.Ile1319Ser) c.4004T>G (p.Ile1335Ser) c.4049T>G (p.Ile1350Ser) c.3914T>G (p.Ile1305Ser) c.4046T>G (p.Ile1349Ser) n.189T>G n.337T>G n.838T>G n.172T>G n.313T>G c.3911T>G (p.Ile1304Ser) n.4207T>G | |
2 | g.71611295C>A | CA426758668 | DYSF | c.1422C>A (p.Ile474=) c.639C>A (p.Ile213=) c.597C>A (p.Ile199=) c.3954C>A (p.Ile1318=) c.4008C>A (p.Ile1336=) c.3957C>A (p.Ile1319=) c.4005C>A (p.Ile1335=) c.4050C>A (p.Ile1350=) c.3915C>A (p.Ile1305=) c.4047C>A (p.Ile1349=) n.190C>A n.338C>A n.839C>A n.173C>A n.314C>A c.3912C>A (p.Ile1304=) n.4208C>A | ClinVar dbSNP COSMIC COSMIC |
2 | g.71611295C= | CA1260124022 | DYSF | c.1422C= (p.Ile474=) c.639C= (p.Ile213=) c.597C= (p.Ile199=) c.3954C= (p.Ile1318=) c.4008C= (p.Ile1336=) c.3957C= (p.Ile1319=) c.4005C= (p.Ile1335=) c.4050C= (p.Ile1350=) c.3915C= (p.Ile1305=) c.4047C= (p.Ile1349=) n.190C= n.338C= n.839C= n.173C= n.314C= c.3912C= (p.Ile1304=) n.4208C= | |
2 | g.71611295C>G | CA347228261 | DYSF | c.1422C>G (p.Ile474Met) c.639C>G (p.Ile213Met) c.597C>G (p.Ile199Met) c.3954C>G (p.Ile1318Met) c.4008C>G (p.Ile1336Met) c.3957C>G (p.Ile1319Met) c.4005C>G (p.Ile1335Met) c.4050C>G (p.Ile1350Met) c.3915C>G (p.Ile1305Met) c.4047C>G (p.Ile1349Met) n.190C>G n.338C>G n.839C>G n.173C>G n.314C>G c.3912C>G (p.Ile1304Met) n.4208C>G | |
2 | g.71611295C>T | CA426758669 | DYSF | c.1422C>T (p.Ile474=) c.639C>T (p.Ile213=) c.597C>T (p.Ile199=) c.3954C>T (p.Ile1318=) c.4008C>T (p.Ile1336=) c.3957C>T (p.Ile1319=) c.4005C>T (p.Ile1335=) c.4050C>T (p.Ile1350=) c.3915C>T (p.Ile1305=) c.4047C>T (p.Ile1349=) n.190C>T n.338C>T n.839C>T n.173C>T n.314C>T c.3912C>T (p.Ile1304=) n.4208C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611295_71611296insAT | CA2586969502 | DYSF | c.1422_1423insAT (p.Tyr475IlefsTer27) c.639_640insAT (p.Tyr214IlefsTer27) c.597_598insAT (p.Tyr200IlefsTer27) c.3954_3955insAT (p.Tyr1319IlefsTer27) c.4008_4009insAT (p.Tyr1337IlefsTer27) c.3957_3958insAT (p.Tyr1320IlefsTer27) c.4005_4006insAT (p.Tyr1336IlefsTer27) c.4050_4051insAT (p.Tyr1351IlefsTer27) c.3915_3916insAT (p.Tyr1306IlefsTer27) c.4047_4048insAT (p.Tyr1350IlefsTer27) n.190_191insAT n.338_339insAT n.839_840insAT n.173_174insAT n.314_315insAT c.3912_3913insAT (p.Tyr1305IlefsTer27) n.4208_4209insAT | |
2 | g.71611296T>A | CA347228264 | DYSF | c.1423T>A (p.Tyr475Asn) c.640T>A (p.Tyr214Asn) c.598T>A (p.Tyr200Asn) c.3955T>A (p.Tyr1319Asn) c.4009T>A (p.Tyr1337Asn) c.3958T>A (p.Tyr1320Asn) c.4006T>A (p.Tyr1336Asn) c.4051T>A (p.Tyr1351Asn) c.3916T>A (p.Tyr1306Asn) c.4048T>A (p.Tyr1350Asn) n.191T>A n.339T>A n.840T>A n.174T>A n.315T>A c.3913T>A (p.Tyr1305Asn) n.4209T>A | gnomAD v4 |
2 | g.71611296T>C | CA347228266 | DYSF | c.1423T>C (p.Tyr475His) c.640T>C (p.Tyr214His) c.598T>C (p.Tyr200His) c.3955T>C (p.Tyr1319His) c.4009T>C (p.Tyr1337His) c.3958T>C (p.Tyr1320His) c.4006T>C (p.Tyr1336His) c.4051T>C (p.Tyr1351His) c.3916T>C (p.Tyr1306His) c.4048T>C (p.Tyr1350His) n.191T>C n.339T>C n.840T>C n.174T>C n.315T>C c.3913T>C (p.Tyr1305His) n.4209T>C | |
2 | g.71611296T>G | CA347228267 | DYSF | c.1423T>G (p.Tyr475Asp) c.640T>G (p.Tyr214Asp) c.598T>G (p.Tyr200Asp) c.3955T>G (p.Tyr1319Asp) c.4009T>G (p.Tyr1337Asp) c.3958T>G (p.Tyr1320Asp) c.4006T>G (p.Tyr1336Asp) c.4051T>G (p.Tyr1351Asp) c.3916T>G (p.Tyr1306Asp) c.4048T>G (p.Tyr1350Asp) n.191T>G n.339T>G n.840T>G n.174T>G n.315T>G c.3913T>G (p.Tyr1305Asp) n.4209T>G | |
2 | g.71611297A= | CA1260124023 | DYSF | c.1424A= (p.Tyr475=) c.641A= (p.Tyr214=) c.599A= (p.Tyr200=) c.3956A= (p.Tyr1319=) c.4010A= (p.Tyr1337=) c.3959A= (p.Tyr1320=) c.4007A= (p.Tyr1336=) c.4052A= (p.Tyr1351=) c.3917A= (p.Tyr1306=) c.4049A= (p.Tyr1350=) n.192A= n.340A= n.841A= n.175A= n.316A= c.3914A= (p.Tyr1305=) n.4210A= | |
2 | g.71611297A>C | CA347228268 | DYSF | c.1424A>C (p.Tyr475Ser) c.641A>C (p.Tyr214Ser) c.599A>C (p.Tyr200Ser) c.3956A>C (p.Tyr1319Ser) c.4010A>C (p.Tyr1337Ser) c.3959A>C (p.Tyr1320Ser) c.4007A>C (p.Tyr1336Ser) c.4052A>C (p.Tyr1351Ser) c.3917A>C (p.Tyr1306Ser) c.4049A>C (p.Tyr1350Ser) n.192A>C n.340A>C n.841A>C n.175A>C n.316A>C c.3914A>C (p.Tyr1305Ser) n.4210A>C | |
2 | g.71611297A>G | CA347228269 | DYSF | c.1424A>G (p.Tyr475Cys) c.641A>G (p.Tyr214Cys) c.599A>G (p.Tyr200Cys) c.3956A>G (p.Tyr1319Cys) c.4010A>G (p.Tyr1337Cys) c.3959A>G (p.Tyr1320Cys) c.4007A>G (p.Tyr1336Cys) c.4052A>G (p.Tyr1351Cys) c.3917A>G (p.Tyr1306Cys) c.4049A>G (p.Tyr1350Cys) n.192A>G n.340A>G n.841A>G n.175A>G n.316A>G c.3914A>G (p.Tyr1305Cys) n.4210A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611297A>T | CA347228270 | DYSF | c.1424A>T (p.Tyr475Phe) c.641A>T (p.Tyr214Phe) c.599A>T (p.Tyr200Phe) c.3956A>T (p.Tyr1319Phe) c.4010A>T (p.Tyr1337Phe) c.3959A>T (p.Tyr1320Phe) c.4007A>T (p.Tyr1336Phe) c.4052A>T (p.Tyr1351Phe) c.3917A>T (p.Tyr1306Phe) c.4049A>T (p.Tyr1350Phe) n.192A>T n.340A>T n.841A>T n.175A>T n.316A>T c.3914A>T (p.Tyr1305Phe) n.4210A>T | |
2 | g.71611298C>A | CA347228271 | DYSF | c.1425C>A (p.Tyr475Ter) c.642C>A (p.Tyr214Ter) c.600C>A (p.Tyr200Ter) c.3957C>A (p.Tyr1319Ter) c.4011C>A (p.Tyr1337Ter) c.3960C>A (p.Tyr1320Ter) c.4008C>A (p.Tyr1336Ter) c.4053C>A (p.Tyr1351Ter) c.3918C>A (p.Tyr1306Ter) c.4050C>A (p.Tyr1350Ter) n.193C>A n.341C>A n.842C>A n.176C>A n.317C>A c.3915C>A (p.Tyr1305Ter) n.4211C>A | |
2 | g.71611298C= | CA1260124024 | DYSF | c.1425C= (p.Tyr475=) c.642C= (p.Tyr214=) c.600C= (p.Tyr200=) c.3957C= (p.Tyr1319=) c.4011C= (p.Tyr1337=) c.3960C= (p.Tyr1320=) c.4008C= (p.Tyr1336=) c.4053C= (p.Tyr1351=) c.3918C= (p.Tyr1306=) c.4050C= (p.Tyr1350=) n.193C= n.341C= n.842C= n.176C= n.317C= c.3915C= (p.Tyr1305=) n.4211C= | |
2 | g.71611298C>G | CA347228272 | DYSF | c.1425C>G (p.Tyr475Ter) c.642C>G (p.Tyr214Ter) c.600C>G (p.Tyr200Ter) c.3957C>G (p.Tyr1319Ter) c.4011C>G (p.Tyr1337Ter) c.3960C>G (p.Tyr1320Ter) c.4008C>G (p.Tyr1336Ter) c.4053C>G (p.Tyr1351Ter) c.3918C>G (p.Tyr1306Ter) c.4050C>G (p.Tyr1350Ter) n.193C>G n.341C>G n.842C>G n.176C>G n.317C>G c.3915C>G (p.Tyr1305Ter) n.4211C>G | |
2 | g.71611298C>T | CA1706838 | DYSF | c.1425C>T (p.Tyr475=) c.642C>T (p.Tyr214=) c.600C>T (p.Tyr200=) c.3957C>T (p.Tyr1319=) c.4011C>T (p.Tyr1337=) c.3960C>T (p.Tyr1320=) c.4008C>T (p.Tyr1336=) c.4053C>T (p.Tyr1351=) c.3918C>T (p.Tyr1306=) c.4050C>T (p.Tyr1350=) n.193C>T n.341C>T n.842C>T n.176C>T n.317C>T c.3915C>T (p.Tyr1305=) n.4211C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611299A= | CA1260124025 | DYSF | c.1426A= (p.Met476=) c.643A= (p.Met215=) c.601A= (p.Met201=) c.3958A= (p.Met1320=) c.4012A= (p.Met1338=) c.3961A= (p.Met1321=) c.4009A= (p.Met1337=) c.4054A= (p.Met1352=) c.3919A= (p.Met1307=) c.4051A= (p.Met1351=) n.194A= n.342A= n.843A= n.177A= n.318A= c.3916A= (p.Met1306=) n.4212A= | |
2 | g.71611299A>C | CA347228274 | DYSF | c.1426A>C (p.Met476Leu) c.643A>C (p.Met215Leu) c.601A>C (p.Met201Leu) c.3958A>C (p.Met1320Leu) c.4012A>C (p.Met1338Leu) c.3961A>C (p.Met1321Leu) c.4009A>C (p.Met1337Leu) c.4054A>C (p.Met1352Leu) c.3919A>C (p.Met1307Leu) c.4051A>C (p.Met1351Leu) n.194A>C n.342A>C n.843A>C n.177A>C n.318A>C c.3916A>C (p.Met1306Leu) n.4212A>C | |
2 | g.71611299A>G | CA1706839 | DYSF | c.1426A>G (p.Met476Val) c.643A>G (p.Met215Val) c.601A>G (p.Met201Val) c.3958A>G (p.Met1320Val) c.4012A>G (p.Met1338Val) c.3961A>G (p.Met1321Val) c.4009A>G (p.Met1337Val) c.4054A>G (p.Met1352Val) c.3919A>G (p.Met1307Val) c.4051A>G (p.Met1351Val) n.194A>G n.342A>G n.843A>G n.177A>G n.318A>G c.3916A>G (p.Met1306Val) n.4212A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611299A>T | CA347228273 | DYSF | c.1426A>T (p.Met476Leu) c.643A>T (p.Met215Leu) c.601A>T (p.Met201Leu) c.3958A>T (p.Met1320Leu) c.4012A>T (p.Met1338Leu) c.3961A>T (p.Met1321Leu) c.4009A>T (p.Met1337Leu) c.4054A>T (p.Met1352Leu) c.3919A>T (p.Met1307Leu) c.4051A>T (p.Met1351Leu) n.194A>T n.342A>T n.843A>T n.177A>T n.318A>T c.3916A>T (p.Met1306Leu) n.4212A>T | gnomAD v4 |
2 | g.71611300T>A | CA347228275 | DYSF | c.1427T>A (p.Met476Lys) c.644T>A (p.Met215Lys) c.602T>A (p.Met201Lys) c.3959T>A (p.Met1320Lys) c.4013T>A (p.Met1338Lys) c.3962T>A (p.Met1321Lys) c.4010T>A (p.Met1337Lys) c.4055T>A (p.Met1352Lys) c.3920T>A (p.Met1307Lys) c.4052T>A (p.Met1351Lys) n.195T>A n.343T>A n.844T>A n.178T>A n.319T>A c.3917T>A (p.Met1306Lys) n.4213T>A | |
2 | g.71611300T>C | CA347228276 | DYSF | c.1427T>C (p.Met476Thr) c.644T>C (p.Met215Thr) c.602T>C (p.Met201Thr) c.3959T>C (p.Met1320Thr) c.4013T>C (p.Met1338Thr) c.3962T>C (p.Met1321Thr) c.4010T>C (p.Met1337Thr) c.4055T>C (p.Met1352Thr) c.3920T>C (p.Met1307Thr) c.4052T>C (p.Met1351Thr) n.195T>C n.343T>C n.844T>C n.178T>C n.319T>C c.3917T>C (p.Met1306Thr) n.4213T>C | |
2 | g.71611300T>G | CA347228277 | DYSF | c.1427T>G (p.Met476Arg) c.644T>G (p.Met215Arg) c.602T>G (p.Met201Arg) c.3959T>G (p.Met1320Arg) c.4013T>G (p.Met1338Arg) c.3962T>G (p.Met1321Arg) c.4010T>G (p.Met1337Arg) c.4055T>G (p.Met1352Arg) c.3920T>G (p.Met1307Arg) c.4052T>G (p.Met1351Arg) n.195T>G n.343T>G n.844T>G n.178T>G n.319T>G c.3917T>G (p.Met1306Arg) n.4213T>G | |
2 | g.71611300delinsGA | CA2586969503 | DYSF | c.1427delinsGA (p.Met476ArgfsTer?) c.644delinsGA (p.Met215ArgfsTer?) c.602delinsGA (p.Met201ArgfsTer?) c.3959delinsGA (p.Met1320ArgfsTer?) c.4013delinsGA (p.Met1338ArgfsTer?) c.3962delinsGA (p.Met1321ArgfsTer?) c.4010delinsGA (p.Met1337ArgfsTer?) c.4055delinsGA (p.Met1352ArgfsTer?) c.3920delinsGA (p.Met1307ArgfsTer?) c.4052delinsGA (p.Met1351ArgfsTer?) n.195delinsGA n.343delinsGA n.844delinsGA n.178delinsGA n.319delinsGA c.3917delinsGA (p.Met1306ArgfsTer?) n.4213delinsGA | |
2 | g.71611300_71611301insA | CA2586969504 | DYSF | c.1427_1428insA (p.Met476IlefsTer?) c.644_645insA (p.Met215IlefsTer?) c.602_603insA (p.Met201IlefsTer?) c.3959_3960insA (p.Met1320IlefsTer?) c.4013_4014insA (p.Met1338IlefsTer?) c.3962_3963insA (p.Met1321IlefsTer?) c.4010_4011insA (p.Met1337IlefsTer?) c.4055_4056insA (p.Met1352IlefsTer?) c.3920_3921insA (p.Met1307IlefsTer?) c.4052_4053insA (p.Met1351IlefsTer?) n.195_196insA n.343_344insA n.844_845insA n.178_179insA n.319_320insA c.3917_3918insA (p.Met1306IlefsTer?) n.4213_4214insA | |
2 | g.71611301G>A | CA347228278 | DYSF | c.1428G>A (p.Met476Ile) c.645G>A (p.Met215Ile) c.603G>A (p.Met201Ile) c.3960G>A (p.Met1320Ile) c.4014G>A (p.Met1338Ile) c.3963G>A (p.Met1321Ile) c.4011G>A (p.Met1337Ile) c.4056G>A (p.Met1352Ile) c.3921G>A (p.Met1307Ile) c.4053G>A (p.Met1351Ile) n.196G>A n.344G>A n.845G>A n.179G>A n.320G>A c.3918G>A (p.Met1306Ile) n.4214G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611301G>C | CA347228279 | DYSF | c.1428G>C (p.Met476Ile) c.645G>C (p.Met215Ile) c.603G>C (p.Met201Ile) c.3960G>C (p.Met1320Ile) c.4014G>C (p.Met1338Ile) c.3963G>C (p.Met1321Ile) c.4011G>C (p.Met1337Ile) c.4056G>C (p.Met1352Ile) c.3921G>C (p.Met1307Ile) c.4053G>C (p.Met1351Ile) n.196G>C n.344G>C n.845G>C n.179G>C n.320G>C c.3918G>C (p.Met1306Ile) n.4214G>C | |
2 | g.71611301G= | CA1260124026 | DYSF | c.1428G= (p.Met476=) c.645G= (p.Met215=) c.603G= (p.Met201=) c.3960G= (p.Met1320=) c.4014G= (p.Met1338=) c.3963G= (p.Met1321=) c.4011G= (p.Met1337=) c.4056G= (p.Met1352=) c.3921G= (p.Met1307=) c.4053G= (p.Met1351=) n.196G= n.344G= n.845G= n.179G= n.320G= c.3918G= (p.Met1306=) n.4214G= | |
2 | g.71611301G>T | CA347228280 | DYSF | c.1428G>T (p.Met476Ile) c.645G>T (p.Met215Ile) c.603G>T (p.Met201Ile) c.3960G>T (p.Met1320Ile) c.4014G>T (p.Met1338Ile) c.3963G>T (p.Met1321Ile) c.4011G>T (p.Met1337Ile) c.4056G>T (p.Met1352Ile) c.3921G>T (p.Met1307Ile) c.4053G>T (p.Met1351Ile) n.196G>T n.344G>T n.845G>T n.179G>T n.320G>T c.3918G>T (p.Met1306Ile) n.4214G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611302G>A | CA347228282 | DYSF | c.1429G>A (p.Val477Ile) c.646G>A (p.Val216Ile) c.604G>A (p.Val202Ile) c.3961G>A (p.Val1321Ile) c.4015G>A (p.Val1339Ile) c.3964G>A (p.Val1322Ile) c.4012G>A (p.Val1338Ile) c.4057G>A (p.Val1353Ile) c.3922G>A (p.Val1308Ile) c.4054G>A (p.Val1352Ile) n.197G>A n.345G>A n.846G>A n.180G>A n.321G>A c.3919G>A (p.Val1307Ile) n.4215G>A | dbSNP |
2 | g.71611302G>C | CA347228281 | DYSF | c.1429G>C (p.Val477Leu) c.646G>C (p.Val216Leu) c.604G>C (p.Val202Leu) c.3961G>C (p.Val1321Leu) c.4015G>C (p.Val1339Leu) c.3964G>C (p.Val1322Leu) c.4012G>C (p.Val1338Leu) c.4057G>C (p.Val1353Leu) c.3922G>C (p.Val1308Leu) c.4054G>C (p.Val1352Leu) n.197G>C n.345G>C n.846G>C n.180G>C n.321G>C c.3919G>C (p.Val1307Leu) n.4215G>C | gnomAD v4 |
2 | g.71611302G= | CA1260124027 | DYSF | c.1429G= (p.Val477=) c.646G= (p.Val216=) c.604G= (p.Val202=) c.3961G= (p.Val1321=) c.4015G= (p.Val1339=) c.3964G= (p.Val1322=) c.4012G= (p.Val1338=) c.4057G= (p.Val1353=) c.3922G= (p.Val1308=) c.4054G= (p.Val1352=) n.197G= n.345G= n.846G= n.180G= n.321G= c.3919G= (p.Val1307=) n.4215G= | |
2 | g.71611302G>T | CA1706840 | DYSF | c.1429G>T (p.Val477Phe) c.646G>T (p.Val216Phe) c.604G>T (p.Val202Phe) c.3961G>T (p.Val1321Phe) c.4015G>T (p.Val1339Phe) c.3964G>T (p.Val1322Phe) c.4012G>T (p.Val1338Phe) c.4057G>T (p.Val1353Phe) c.3922G>T (p.Val1308Phe) c.4054G>T (p.Val1352Phe) n.197G>T n.345G>T n.846G>T n.180G>T n.321G>T c.3919G>T (p.Val1307Phe) n.4215G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611303T>A | CA347228283 | DYSF | c.1430T>A (p.Val477Asp) c.647T>A (p.Val216Asp) c.605T>A (p.Val202Asp) c.3962T>A (p.Val1321Asp) c.4016T>A (p.Val1339Asp) c.3965T>A (p.Val1322Asp) c.4013T>A (p.Val1338Asp) c.4058T>A (p.Val1353Asp) c.3923T>A (p.Val1308Asp) c.4055T>A (p.Val1352Asp) n.198T>A n.346T>A n.847T>A n.181T>A n.322T>A c.3920T>A (p.Val1307Asp) n.4216T>A | |
2 | g.71611303T>C | CA347228284 | DYSF | c.1430T>C (p.Val477Ala) c.647T>C (p.Val216Ala) c.605T>C (p.Val202Ala) c.3962T>C (p.Val1321Ala) c.4016T>C (p.Val1339Ala) c.3965T>C (p.Val1322Ala) c.4013T>C (p.Val1338Ala) c.4058T>C (p.Val1353Ala) c.3923T>C (p.Val1308Ala) c.4055T>C (p.Val1352Ala) n.198T>C n.346T>C n.847T>C n.181T>C n.322T>C c.3920T>C (p.Val1307Ala) n.4216T>C | |
2 | g.71611303T>G | CA347228285 | DYSF | c.1430T>G (p.Val477Gly) c.647T>G (p.Val216Gly) c.605T>G (p.Val202Gly) c.3962T>G (p.Val1321Gly) c.4016T>G (p.Val1339Gly) c.3965T>G (p.Val1322Gly) c.4013T>G (p.Val1338Gly) c.4058T>G (p.Val1353Gly) c.3923T>G (p.Val1308Gly) c.4055T>G (p.Val1352Gly) n.198T>G n.346T>G n.847T>G n.181T>G n.322T>G c.3920T>G (p.Val1307Gly) n.4216T>G | |
2 | g.71611304T>A | CA426758683 | DYSF | c.1431T>A (p.Val477=) c.648T>A (p.Val216=) c.606T>A (p.Val202=) c.3963T>A (p.Val1321=) c.4017T>A (p.Val1339=) c.3966T>A (p.Val1322=) c.4014T>A (p.Val1338=) c.4059T>A (p.Val1353=) c.3924T>A (p.Val1308=) c.4056T>A (p.Val1352=) n.199T>A n.347T>A n.848T>A n.182T>A n.323T>A c.3921T>A (p.Val1307=) n.4217T>A | |
2 | g.71611304T>C | CA426758681 | DYSF | c.1431T>C (p.Val477=) c.648T>C (p.Val216=) c.606T>C (p.Val202=) c.3963T>C (p.Val1321=) c.4017T>C (p.Val1339=) c.3966T>C (p.Val1322=) c.4014T>C (p.Val1338=) c.4059T>C (p.Val1353=) c.3924T>C (p.Val1308=) c.4056T>C (p.Val1352=) n.199T>C n.347T>C n.848T>C n.182T>C n.323T>C c.3921T>C (p.Val1307=) n.4217T>C | |
2 | g.71611304T>G | CA426758684 | DYSF | c.1431T>G (p.Val477=) c.648T>G (p.Val216=) c.606T>G (p.Val202=) c.3963T>G (p.Val1321=) c.4017T>G (p.Val1339=) c.3966T>G (p.Val1322=) c.4014T>G (p.Val1338=) c.4059T>G (p.Val1353=) c.3924T>G (p.Val1308=) c.4056T>G (p.Val1352=) n.199T>G n.347T>G n.848T>G n.182T>G n.323T>G c.3921T>G (p.Val1307=) n.4217T>G | |
2 | g.71611305C>A | CA347228286 | DYSF | c.1432C>A (p.Pro478Thr) c.649C>A (p.Pro217Thr) c.607C>A (p.Pro203Thr) c.3964C>A (p.Pro1322Thr) c.4018C>A (p.Pro1340Thr) c.3967C>A (p.Pro1323Thr) c.4015C>A (p.Pro1339Thr) c.4060C>A (p.Pro1354Thr) c.3925C>A (p.Pro1309Thr) c.4057C>A (p.Pro1353Thr) n.200C>A n.348C>A n.849C>A n.183C>A n.324C>A c.3922C>A (p.Pro1308Thr) n.4218C>A | |
2 | g.71611305C>G | CA347228287 | DYSF | c.1432C>G (p.Pro478Ala) c.649C>G (p.Pro217Ala) c.607C>G (p.Pro203Ala) c.3964C>G (p.Pro1322Ala) c.4018C>G (p.Pro1340Ala) c.3967C>G (p.Pro1323Ala) c.4015C>G (p.Pro1339Ala) c.4060C>G (p.Pro1354Ala) c.3925C>G (p.Pro1309Ala) c.4057C>G (p.Pro1353Ala) n.200C>G n.348C>G n.849C>G n.183C>G n.324C>G c.3922C>G (p.Pro1308Ala) n.4218C>G | |
2 | g.71611305C>T | CA347228288 | DYSF | c.1432C>T (p.Pro478Ser) c.649C>T (p.Pro217Ser) c.607C>T (p.Pro203Ser) c.3964C>T (p.Pro1322Ser) c.4018C>T (p.Pro1340Ser) c.3967C>T (p.Pro1323Ser) c.4015C>T (p.Pro1339Ser) c.4060C>T (p.Pro1354Ser) c.3925C>T (p.Pro1309Ser) c.4057C>T (p.Pro1353Ser) n.200C>T n.348C>T n.849C>T n.183C>T n.324C>T c.3922C>T (p.Pro1308Ser) n.4218C>T | |
2 | g.71611306C>A | CA347228289 | DYSF | c.1433C>A (p.Pro478His) c.650C>A (p.Pro217His) c.608C>A (p.Pro203His) c.3965C>A (p.Pro1322His) c.4019C>A (p.Pro1340His) c.3968C>A (p.Pro1323His) c.4016C>A (p.Pro1339His) c.4061C>A (p.Pro1354His) c.3926C>A (p.Pro1309His) c.4058C>A (p.Pro1353His) n.201C>A n.349C>A n.850C>A n.184C>A n.325C>A c.3923C>A (p.Pro1308His) n.4219C>A | |
2 | g.71611306C>G | CA347228291 | DYSF | c.1433C>G (p.Pro478Arg) c.650C>G (p.Pro217Arg) c.608C>G (p.Pro203Arg) c.3965C>G (p.Pro1322Arg) c.4019C>G (p.Pro1340Arg) c.3968C>G (p.Pro1323Arg) c.4016C>G (p.Pro1339Arg) c.4061C>G (p.Pro1354Arg) c.3926C>G (p.Pro1309Arg) c.4058C>G (p.Pro1353Arg) n.201C>G n.349C>G n.850C>G n.184C>G n.325C>G c.3923C>G (p.Pro1308Arg) n.4219C>G | |
2 | g.71611306C>T | CA347228290 | DYSF | c.1433C>T (p.Pro478Leu) c.650C>T (p.Pro217Leu) c.608C>T (p.Pro203Leu) c.3965C>T (p.Pro1322Leu) c.4019C>T (p.Pro1340Leu) c.3968C>T (p.Pro1323Leu) c.4016C>T (p.Pro1339Leu) c.4061C>T (p.Pro1354Leu) c.3926C>T (p.Pro1309Leu) c.4058C>T (p.Pro1353Leu) n.201C>T n.349C>T n.850C>T n.184C>T n.325C>T c.3923C>T (p.Pro1308Leu) n.4219C>T | |
2 | g.71611307T>A | CA426758691 | DYSF | c.1434T>A (p.Pro478=) c.651T>A (p.Pro217=) c.609T>A (p.Pro203=) c.3966T>A (p.Pro1322=) c.4020T>A (p.Pro1340=) c.3969T>A (p.Pro1323=) c.4017T>A (p.Pro1339=) c.4062T>A (p.Pro1354=) c.3927T>A (p.Pro1309=) c.4059T>A (p.Pro1353=) n.202T>A n.350T>A n.851T>A n.185T>A n.326T>A c.3924T>A (p.Pro1308=) n.4220T>A | |
2 | g.71611307T>C | CA426758692 | DYSF | c.1434T>C (p.Pro478=) c.651T>C (p.Pro217=) c.609T>C (p.Pro203=) c.3966T>C (p.Pro1322=) c.4020T>C (p.Pro1340=) c.3969T>C (p.Pro1323=) c.4017T>C (p.Pro1339=) c.4062T>C (p.Pro1354=) c.3927T>C (p.Pro1309=) c.4059T>C (p.Pro1353=) n.202T>C n.350T>C n.851T>C n.185T>C n.326T>C c.3924T>C (p.Pro1308=) n.4220T>C | gnomAD v4 |
2 | g.71611307T>G | CA426758693 | DYSF | c.1434T>G (p.Pro478=) c.651T>G (p.Pro217=) c.609T>G (p.Pro203=) c.3966T>G (p.Pro1322=) c.4020T>G (p.Pro1340=) c.3969T>G (p.Pro1323=) c.4017T>G (p.Pro1339=) c.4062T>G (p.Pro1354=) c.3927T>G (p.Pro1309=) c.4059T>G (p.Pro1353=) n.202T>G n.350T>G n.851T>G n.185T>G n.326T>G c.3924T>G (p.Pro1308=) n.4220T>G | |
2 | g.71611308C>A | CA347228292 | DYSF | c.1435C>A (p.Gln479Lys) c.652C>A (p.Gln218Lys) c.610C>A (p.Gln204Lys) c.3967C>A (p.Gln1323Lys) c.4021C>A (p.Gln1341Lys) c.3970C>A (p.Gln1324Lys) c.4018C>A (p.Gln1340Lys) c.4063C>A (p.Gln1355Lys) c.3928C>A (p.Gln1310Lys) c.4060C>A (p.Gln1354Lys) n.203C>A n.351C>A n.852C>A n.186C>A n.327C>A c.3925C>A (p.Gln1309Lys) n.4221C>A | |
2 | g.71611308C= | CA1260124028 | DYSF | c.1435C= (p.Gln479=) c.652C= (p.Gln218=) c.610C= (p.Gln204=) c.3967C= (p.Gln1323=) c.4021C= (p.Gln1341=) c.3970C= (p.Gln1324=) c.4018C= (p.Gln1340=) c.4063C= (p.Gln1355=) c.3928C= (p.Gln1310=) c.4060C= (p.Gln1354=) n.203C= n.351C= n.852C= n.186C= n.327C= c.3925C= (p.Gln1309=) n.4221C= | |
2 | g.71611308C>G | CA244881 | DYSF | c.1435C>G (p.Gln479Glu) c.652C>G (p.Gln218Glu) c.610C>G (p.Gln204Glu) c.3967C>G (p.Gln1323Glu) c.4021C>G (p.Gln1341Glu) c.3970C>G (p.Gln1324Glu) c.4018C>G (p.Gln1340Glu) c.4063C>G (p.Gln1355Glu) c.3928C>G (p.Gln1310Glu) c.4060C>G (p.Gln1354Glu) n.203C>G n.351C>G n.852C>G n.186C>G n.327C>G c.3925C>G (p.Gln1309Glu) n.4221C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611308C>T | CA347228293 | DYSF | c.1435C>T (p.Gln479Ter) c.652C>T (p.Gln218Ter) c.610C>T (p.Gln204Ter) c.3967C>T (p.Gln1323Ter) c.4021C>T (p.Gln1341Ter) c.3970C>T (p.Gln1324Ter) c.4018C>T (p.Gln1340Ter) c.4063C>T (p.Gln1355Ter) c.3928C>T (p.Gln1310Ter) c.4060C>T (p.Gln1354Ter) n.203C>T n.351C>T n.852C>T n.186C>T n.327C>T c.3925C>T (p.Gln1309Ter) n.4221C>T | ClinVar dbSNP |
2 | g.71611309A>C | CA347228294 | DYSF | c.1436A>C (p.Gln479Pro) c.653A>C (p.Gln218Pro) c.611A>C (p.Gln204Pro) c.3968A>C (p.Gln1323Pro) c.4022A>C (p.Gln1341Pro) c.3971A>C (p.Gln1324Pro) c.4019A>C (p.Gln1340Pro) c.4064A>C (p.Gln1355Pro) c.3929A>C (p.Gln1310Pro) c.4061A>C (p.Gln1354Pro) n.204A>C n.352A>C n.853A>C n.187A>C n.328A>C c.3926A>C (p.Gln1309Pro) n.4222A>C | |
2 | g.71611309A>G | CA347228295 | DYSF | c.1436A>G (p.Gln479Arg) c.653A>G (p.Gln218Arg) c.611A>G (p.Gln204Arg) c.3968A>G (p.Gln1323Arg) c.4022A>G (p.Gln1341Arg) c.3971A>G (p.Gln1324Arg) c.4019A>G (p.Gln1340Arg) c.4064A>G (p.Gln1355Arg) c.3929A>G (p.Gln1310Arg) c.4061A>G (p.Gln1354Arg) n.204A>G n.352A>G n.853A>G n.187A>G n.328A>G c.3926A>G (p.Gln1309Arg) n.4222A>G | |
2 | g.71611309A>T | CA347228296 | DYSF | c.1436A>T (p.Gln479Leu) c.653A>T (p.Gln218Leu) c.611A>T (p.Gln204Leu) c.3968A>T (p.Gln1323Leu) c.4022A>T (p.Gln1341Leu) c.3971A>T (p.Gln1324Leu) c.4019A>T (p.Gln1340Leu) c.4064A>T (p.Gln1355Leu) c.3929A>T (p.Gln1310Leu) c.4061A>T (p.Gln1354Leu) n.204A>T n.352A>T n.853A>T n.187A>T n.328A>T c.3926A>T (p.Gln1309Leu) n.4222A>T | |
2 | g.71611310G>A | CA426758695 | DYSF | c.1437G>A (p.Gln479=) c.654G>A (p.Gln218=) c.612G>A (p.Gln204=) c.3969G>A (p.Gln1323=) c.4023G>A (p.Gln1341=) c.3972G>A (p.Gln1324=) c.4020G>A (p.Gln1340=) c.4065G>A (p.Gln1355=) c.3930G>A (p.Gln1310=) c.4062G>A (p.Gln1354=) n.205G>A n.353G>A n.854G>A n.188G>A n.329G>A c.3927G>A (p.Gln1309=) n.4223G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71611310G>C | CA347228297 | DYSF | c.1437G>C (p.Gln479His) c.654G>C (p.Gln218His) c.612G>C (p.Gln204His) c.3969G>C (p.Gln1323His) c.4023G>C (p.Gln1341His) c.3972G>C (p.Gln1324His) c.4020G>C (p.Gln1340His) c.4065G>C (p.Gln1355His) c.3930G>C (p.Gln1310His) c.4062G>C (p.Gln1354His) n.205G>C n.353G>C n.854G>C n.188G>C n.329G>C c.3927G>C (p.Gln1309His) n.4223G>C | |
2 | g.71611310G= | CA1260124029 | DYSF | c.1437G= (p.Gln479=) c.654G= (p.Gln218=) c.612G= (p.Gln204=) c.3969G= (p.Gln1323=) c.4023G= (p.Gln1341=) c.3972G= (p.Gln1324=) c.4020G= (p.Gln1340=) c.4065G= (p.Gln1355=) c.3930G= (p.Gln1310=) c.4062G= (p.Gln1354=) n.205G= n.353G= n.854G= n.188G= n.329G= c.3927G= (p.Gln1309=) n.4223G= | |
2 | g.71611310G>T | CA347228298 | DYSF | c.1437G>T (p.Gln479His) c.654G>T (p.Gln218His) c.612G>T (p.Gln204His) c.3969G>T (p.Gln1323His) c.4023G>T (p.Gln1341His) c.3972G>T (p.Gln1324His) c.4020G>T (p.Gln1340His) c.4065G>T (p.Gln1355His) c.3930G>T (p.Gln1310His) c.4062G>T (p.Gln1354His) n.205G>T n.353G>T n.854G>T n.188G>T n.329G>T c.3927G>T (p.Gln1309His) n.4223G>T | |
2 | g.71611311A>C | CA347228299 | DYSF | c.1438A>C (p.Asn480His) c.655A>C (p.Asn219His) c.613A>C (p.Asn205His) c.3970A>C (p.Asn1324His) c.4024A>C (p.Asn1342His) c.3973A>C (p.Asn1325His) c.4021A>C (p.Asn1341His) c.4066A>C (p.Asn1356His) c.3931A>C (p.Asn1311His) c.4063A>C (p.Asn1355His) n.206A>C n.354A>C n.855A>C n.189A>C n.330A>C c.3928A>C (p.Asn1310His) n.4224A>C | |
2 | g.71611311A>G | CA347228300 | DYSF | c.1438A>G (p.Asn480Asp) c.655A>G (p.Asn219Asp) c.613A>G (p.Asn205Asp) c.3970A>G (p.Asn1324Asp) c.4024A>G (p.Asn1342Asp) c.3973A>G (p.Asn1325Asp) c.4021A>G (p.Asn1341Asp) c.4066A>G (p.Asn1356Asp) c.3931A>G (p.Asn1311Asp) c.4063A>G (p.Asn1355Asp) n.206A>G n.354A>G n.855A>G n.189A>G n.330A>G c.3928A>G (p.Asn1310Asp) n.4224A>G | |
2 | g.71611311A>T | CA347228301 | DYSF | c.1438A>T (p.Asn480Tyr) c.655A>T (p.Asn219Tyr) c.613A>T (p.Asn205Tyr) c.3970A>T (p.Asn1324Tyr) c.4024A>T (p.Asn1342Tyr) c.3973A>T (p.Asn1325Tyr) c.4021A>T (p.Asn1341Tyr) c.4066A>T (p.Asn1356Tyr) c.3931A>T (p.Asn1311Tyr) c.4063A>T (p.Asn1355Tyr) n.206A>T n.354A>T n.855A>T n.189A>T n.330A>T c.3928A>T (p.Asn1310Tyr) n.4224A>T | |
2 | g.71611312A= | CA1260124030 | DYSF | c.1439A= (p.Asn480=) c.656A= (p.Asn219=) c.614A= (p.Asn205=) c.3971A= (p.Asn1324=) c.4025A= (p.Asn1342=) c.3974A= (p.Asn1325=) c.4022A= (p.Asn1341=) c.4067A= (p.Asn1356=) c.3932A= (p.Asn1311=) c.4064A= (p.Asn1355=) n.207A= n.355A= n.856A= n.190A= n.331A= c.3929A= (p.Asn1310=) n.4225A= | |
2 | g.71611312A>C | CA1706841 | DYSF | c.1439A>C (p.Asn480Thr) c.656A>C (p.Asn219Thr) c.614A>C (p.Asn205Thr) c.3971A>C (p.Asn1324Thr) c.4025A>C (p.Asn1342Thr) c.3974A>C (p.Asn1325Thr) c.4022A>C (p.Asn1341Thr) c.4067A>C (p.Asn1356Thr) c.3932A>C (p.Asn1311Thr) c.4064A>C (p.Asn1355Thr) n.207A>C n.355A>C n.856A>C n.190A>C n.331A>C c.3929A>C (p.Asn1310Thr) n.4225A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611312A>G | CA347228302 | DYSF | c.1439A>G (p.Asn480Ser) c.656A>G (p.Asn219Ser) c.614A>G (p.Asn205Ser) c.3971A>G (p.Asn1324Ser) c.4025A>G (p.Asn1342Ser) c.3974A>G (p.Asn1325Ser) c.4022A>G (p.Asn1341Ser) c.4067A>G (p.Asn1356Ser) c.3932A>G (p.Asn1311Ser) c.4064A>G (p.Asn1355Ser) n.207A>G n.355A>G n.856A>G n.190A>G n.331A>G c.3929A>G (p.Asn1310Ser) n.4225A>G | |
2 | g.71611312A>T | CA347228303 | DYSF | c.1439A>T (p.Asn480Ile) c.656A>T (p.Asn219Ile) c.614A>T (p.Asn205Ile) c.3971A>T (p.Asn1324Ile) c.4025A>T (p.Asn1342Ile) c.3974A>T (p.Asn1325Ile) c.4022A>T (p.Asn1341Ile) c.4067A>T (p.Asn1356Ile) c.3932A>T (p.Asn1311Ile) c.4064A>T (p.Asn1355Ile) n.207A>T n.355A>T n.856A>T n.190A>T n.331A>T c.3929A>T (p.Asn1310Ile) n.4225A>T | |
2 | g.71611313C>A | CA347228304 | DYSF | c.1440C>A (p.Asn480Lys) c.657C>A (p.Asn219Lys) c.615C>A (p.Asn205Lys) c.3972C>A (p.Asn1324Lys) c.4026C>A (p.Asn1342Lys) c.3975C>A (p.Asn1325Lys) c.4023C>A (p.Asn1341Lys) c.4068C>A (p.Asn1356Lys) c.3933C>A (p.Asn1311Lys) c.4065C>A (p.Asn1355Lys) n.208C>A n.356C>A n.857C>A n.191C>A n.332C>A c.3930C>A (p.Asn1310Lys) n.4226C>A | |
2 | g.71611313C= | CA1260124031 | DYSF | c.1440C= (p.Asn480=) c.657C= (p.Asn219=) c.615C= (p.Asn205=) c.3972C= (p.Asn1324=) c.4026C= (p.Asn1342=) c.3975C= (p.Asn1325=) c.4023C= (p.Asn1341=) c.4068C= (p.Asn1356=) c.3933C= (p.Asn1311=) c.4065C= (p.Asn1355=) n.208C= n.356C= n.857C= n.191C= n.332C= c.3930C= (p.Asn1310=) n.4226C= | |
2 | g.71611313C>G | CA347228305 | DYSF | c.1440C>G (p.Asn480Lys) c.657C>G (p.Asn219Lys) c.615C>G (p.Asn205Lys) c.3972C>G (p.Asn1324Lys) c.4026C>G (p.Asn1342Lys) c.3975C>G (p.Asn1325Lys) c.4023C>G (p.Asn1341Lys) c.4068C>G (p.Asn1356Lys) c.3933C>G (p.Asn1311Lys) c.4065C>G (p.Asn1355Lys) n.208C>G n.356C>G n.857C>G n.191C>G n.332C>G c.3930C>G (p.Asn1310Lys) n.4226C>G | |
2 | g.71611313C>T | CA147751 | DYSF | c.1440C>T (p.Asn480=) c.657C>T (p.Asn219=) c.615C>T (p.Asn205=) c.3972C>T (p.Asn1324=) c.4026C>T (p.Asn1342=) c.3975C>T (p.Asn1325=) c.4023C>T (p.Asn1341=) c.4068C>T (p.Asn1356=) c.3933C>T (p.Asn1311=) c.4065C>T (p.Asn1355=) n.208C>T n.356C>T n.857C>T n.191C>T n.332C>T c.3930C>T (p.Asn1310=) n.4226C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611315_71611317del | CA2659553222 | DYSF | c.1442_1444del (p.Ile481del) c.659_661del (p.Ile220del) c.617_619del (p.Ile206del) c.3974_3976del (p.Ile1325del) c.4028_4030del (p.Ile1343del) c.3977_3979del (p.Ile1326del) c.4025_4027del (p.Ile1342del) c.4070_4072del (p.Ile1357del) c.3935_3937del (p.Ile1312del) c.4067_4069del (p.Ile1356del) n.210_212del n.358_360del n.859_861del n.193_195del n.334_336del c.3932_3934del (p.Ile1311del) n.4228_4230del | gnomAD v4 |
2 | g.71611314A= | CA1260124032 | DYSF | c.1441A= (p.Ile481=) c.658A= (p.Ile220=) c.616A= (p.Ile206=) c.3973A= (p.Ile1325=) c.4027A= (p.Ile1343=) c.3976A= (p.Ile1326=) c.4024A= (p.Ile1342=) c.4069A= (p.Ile1357=) c.3934A= (p.Ile1312=) c.4066A= (p.Ile1356=) n.209A= n.357A= n.858A= n.192A= n.333A= c.3931A= (p.Ile1311=) n.4227A= | |
2 | g.71611314A>C | CA347228306 | DYSF | c.1441A>C (p.Ile481Leu) c.658A>C (p.Ile220Leu) c.616A>C (p.Ile206Leu) c.3973A>C (p.Ile1325Leu) c.4027A>C (p.Ile1343Leu) c.3976A>C (p.Ile1326Leu) c.4024A>C (p.Ile1342Leu) c.4069A>C (p.Ile1357Leu) c.3934A>C (p.Ile1312Leu) c.4066A>C (p.Ile1356Leu) n.209A>C n.357A>C n.858A>C n.192A>C n.333A>C c.3931A>C (p.Ile1311Leu) n.4227A>C | |
2 | g.71611314A>G | CA1706842 | DYSF | c.1441A>G (p.Ile481Val) c.658A>G (p.Ile220Val) c.616A>G (p.Ile206Val) c.3973A>G (p.Ile1325Val) c.4027A>G (p.Ile1343Val) c.3976A>G (p.Ile1326Val) c.4024A>G (p.Ile1342Val) c.4069A>G (p.Ile1357Val) c.3934A>G (p.Ile1312Val) c.4066A>G (p.Ile1356Val) n.209A>G n.357A>G n.858A>G n.192A>G n.333A>G c.3931A>G (p.Ile1311Val) n.4227A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611314A>T | CA1706843 | DYSF | c.1441A>T (p.Ile481Phe) c.658A>T (p.Ile220Phe) c.616A>T (p.Ile206Phe) c.3973A>T (p.Ile1325Phe) c.4027A>T (p.Ile1343Phe) c.3976A>T (p.Ile1326Phe) c.4024A>T (p.Ile1342Phe) c.4069A>T (p.Ile1357Phe) c.3934A>T (p.Ile1312Phe) c.4066A>T (p.Ile1356Phe) n.209A>T n.357A>T n.858A>T n.192A>T n.333A>T c.3931A>T (p.Ile1311Phe) n.4227A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611315T>A | CA347228307 | DYSF | c.1442T>A (p.Ile481Asn) c.659T>A (p.Ile220Asn) c.617T>A (p.Ile206Asn) c.3974T>A (p.Ile1325Asn) c.4028T>A (p.Ile1343Asn) c.3977T>A (p.Ile1326Asn) c.4025T>A (p.Ile1342Asn) c.4070T>A (p.Ile1357Asn) c.3935T>A (p.Ile1312Asn) c.4067T>A (p.Ile1356Asn) n.210T>A n.358T>A n.859T>A n.193T>A n.334T>A c.3932T>A (p.Ile1311Asn) n.4228T>A | |
2 | g.71611315T>C | CA347228308 | DYSF | c.1442T>C (p.Ile481Thr) c.659T>C (p.Ile220Thr) c.617T>C (p.Ile206Thr) c.3974T>C (p.Ile1325Thr) c.4028T>C (p.Ile1343Thr) c.3977T>C (p.Ile1326Thr) c.4025T>C (p.Ile1342Thr) c.4070T>C (p.Ile1357Thr) c.3935T>C (p.Ile1312Thr) c.4067T>C (p.Ile1356Thr) n.210T>C n.358T>C n.859T>C n.193T>C n.334T>C c.3932T>C (p.Ile1311Thr) n.4228T>C | |
2 | g.71611315T>G | CA347228309 | DYSF | c.1442T>G (p.Ile481Ser) c.659T>G (p.Ile220Ser) c.617T>G (p.Ile206Ser) c.3974T>G (p.Ile1325Ser) c.4028T>G (p.Ile1343Ser) c.3977T>G (p.Ile1326Ser) c.4025T>G (p.Ile1342Ser) c.4070T>G (p.Ile1357Ser) c.3935T>G (p.Ile1312Ser) c.4067T>G (p.Ile1356Ser) n.210T>G n.358T>G n.859T>G n.193T>G n.334T>G c.3932T>G (p.Ile1311Ser) n.4228T>G | |
2 | g.71611316C>A | CA426758701 | DYSF | c.1443C>A (p.Ile481=) c.660C>A (p.Ile220=) c.618C>A (p.Ile206=) c.3975C>A (p.Ile1325=) c.4029C>A (p.Ile1343=) c.3978C>A (p.Ile1326=) c.4026C>A (p.Ile1342=) c.4071C>A (p.Ile1357=) c.3936C>A (p.Ile1312=) c.4068C>A (p.Ile1356=) n.211C>A n.359C>A n.860C>A n.194C>A n.335C>A c.3933C>A (p.Ile1311=) n.4229C>A | gnomAD v4 |
2 | g.71611316C= | CA1260124033 | DYSF | c.1443C= (p.Ile481=) c.660C= (p.Ile220=) c.618C= (p.Ile206=) c.3975C= (p.Ile1325=) c.4029C= (p.Ile1343=) c.3978C= (p.Ile1326=) c.4026C= (p.Ile1342=) c.4071C= (p.Ile1357=) c.3936C= (p.Ile1312=) c.4068C= (p.Ile1356=) n.211C= n.359C= n.860C= n.194C= n.335C= c.3933C= (p.Ile1311=) n.4229C= | |
2 | g.71611316C>G | CA347228310 | DYSF | c.1443C>G (p.Ile481Met) c.660C>G (p.Ile220Met) c.618C>G (p.Ile206Met) c.3975C>G (p.Ile1325Met) c.4029C>G (p.Ile1343Met) c.3978C>G (p.Ile1326Met) c.4026C>G (p.Ile1342Met) c.4071C>G (p.Ile1357Met) c.3936C>G (p.Ile1312Met) c.4068C>G (p.Ile1356Met) n.211C>G n.359C>G n.860C>G n.194C>G n.335C>G c.3933C>G (p.Ile1311Met) n.4229C>G | gnomAD v4 COSMIC |
2 | g.71611316C>T | CA426758706 | DYSF | c.1443C>T (p.Ile481=) c.660C>T (p.Ile220=) c.618C>T (p.Ile206=) c.3975C>T (p.Ile1325=) c.4029C>T (p.Ile1343=) c.3978C>T (p.Ile1326=) c.4026C>T (p.Ile1342=) c.4071C>T (p.Ile1357=) c.3936C>T (p.Ile1312=) c.4068C>T (p.Ile1356=) n.211C>T n.359C>T n.860C>T n.194C>T n.335C>T c.3933C>T (p.Ile1311=) n.4229C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611317A>C | CA347228311 | DYSF | c.1444A>C (p.Lys482Gln) c.661A>C (p.Lys221Gln) c.619A>C (p.Lys207Gln) c.3976A>C (p.Lys1326Gln) c.4030A>C (p.Lys1344Gln) c.3979A>C (p.Lys1327Gln) c.4027A>C (p.Lys1343Gln) c.4072A>C (p.Lys1358Gln) c.3937A>C (p.Lys1313Gln) c.4069A>C (p.Lys1357Gln) n.212A>C n.360A>C n.861A>C n.195A>C n.336A>C c.3934A>C (p.Lys1312Gln) n.4230A>C | |
2 | g.71611317A>G | CA347228312 | DYSF | c.1444A>G (p.Lys482Glu) c.661A>G (p.Lys221Glu) c.619A>G (p.Lys207Glu) c.3976A>G (p.Lys1326Glu) c.4030A>G (p.Lys1344Glu) c.3979A>G (p.Lys1327Glu) c.4027A>G (p.Lys1343Glu) c.4072A>G (p.Lys1358Glu) c.3937A>G (p.Lys1313Glu) c.4069A>G (p.Lys1357Glu) n.212A>G n.360A>G n.861A>G n.195A>G n.336A>G c.3934A>G (p.Lys1312Glu) n.4230A>G | |
2 | g.71611317A>T | CA347228313 | DYSF | c.1444A>T (p.Lys482Ter) c.661A>T (p.Lys221Ter) c.619A>T (p.Lys207Ter) c.3976A>T (p.Lys1326Ter) c.4030A>T (p.Lys1344Ter) c.3979A>T (p.Lys1327Ter) c.4027A>T (p.Lys1343Ter) c.4072A>T (p.Lys1358Ter) c.3937A>T (p.Lys1313Ter) c.4069A>T (p.Lys1357Ter) n.212A>T n.360A>T n.861A>T n.195A>T n.336A>T c.3934A>T (p.Lys1312Ter) n.4230A>T | |
2 | g.71611318A>C | CA347228314 | DYSF | c.1445A>C (p.Lys482Thr) c.662A>C (p.Lys221Thr) c.620A>C (p.Lys207Thr) c.3977A>C (p.Lys1326Thr) c.4031A>C (p.Lys1344Thr) c.3980A>C (p.Lys1327Thr) c.4028A>C (p.Lys1343Thr) c.4073A>C (p.Lys1358Thr) c.3938A>C (p.Lys1313Thr) c.4070A>C (p.Lys1357Thr) n.213A>C n.361A>C n.862A>C n.196A>C n.337A>C c.3935A>C (p.Lys1312Thr) n.4231A>C | |
2 | g.71611318A>G | CA347228315 | DYSF | c.1445A>G (p.Lys482Arg) c.662A>G (p.Lys221Arg) c.620A>G (p.Lys207Arg) c.3977A>G (p.Lys1326Arg) c.4031A>G (p.Lys1344Arg) c.3980A>G (p.Lys1327Arg) c.4028A>G (p.Lys1343Arg) c.4073A>G (p.Lys1358Arg) c.3938A>G (p.Lys1313Arg) c.4070A>G (p.Lys1357Arg) n.213A>G n.361A>G n.862A>G n.196A>G n.337A>G c.3935A>G (p.Lys1312Arg) n.4231A>G | |
2 | g.71611318A>T | CA347228316 | DYSF | c.1445A>T (p.Lys482Met) c.662A>T (p.Lys221Met) c.620A>T (p.Lys207Met) c.3977A>T (p.Lys1326Met) c.4031A>T (p.Lys1344Met) c.3980A>T (p.Lys1327Met) c.4028A>T (p.Lys1343Met) c.4073A>T (p.Lys1358Met) c.3938A>T (p.Lys1313Met) c.4070A>T (p.Lys1357Met) n.213A>T n.361A>T n.862A>T n.196A>T n.337A>T c.3935A>T (p.Lys1312Met) n.4231A>T | |
2 | g.71611319G>A | CA426758709 | DYSF | c.1446G>A (p.Lys482=) c.663G>A (p.Lys221=) c.621G>A (p.Lys207=) c.3978G>A (p.Lys1326=) c.4032G>A (p.Lys1344=) c.3981G>A (p.Lys1327=) c.4029G>A (p.Lys1343=) c.4074G>A (p.Lys1358=) c.3939G>A (p.Lys1313=) c.4071G>A (p.Lys1357=) n.214G>A n.362G>A n.863G>A n.197G>A n.338G>A c.3936G>A (p.Lys1312=) n.4232G>A | ClinVar |
2 | g.71611319G>C | CA347228317 | DYSF | c.1446G>C (p.Lys482Asn) c.663G>C (p.Lys221Asn) c.621G>C (p.Lys207Asn) c.3978G>C (p.Lys1326Asn) c.4032G>C (p.Lys1344Asn) c.3981G>C (p.Lys1327Asn) c.4029G>C (p.Lys1343Asn) c.4074G>C (p.Lys1358Asn) c.3939G>C (p.Lys1313Asn) c.4071G>C (p.Lys1357Asn) n.214G>C n.362G>C n.863G>C n.197G>C n.338G>C c.3936G>C (p.Lys1312Asn) n.4232G>C | |
2 | g.71611319G>T | CA347228318 | DYSF | c.1446G>T (p.Lys482Asn) c.663G>T (p.Lys221Asn) c.621G>T (p.Lys207Asn) c.3978G>T (p.Lys1326Asn) c.4032G>T (p.Lys1344Asn) c.3981G>T (p.Lys1327Asn) c.4029G>T (p.Lys1343Asn) c.4074G>T (p.Lys1358Asn) c.3939G>T (p.Lys1313Asn) c.4071G>T (p.Lys1357Asn) n.214G>T n.362G>T n.863G>T n.197G>T n.338G>T c.3936G>T (p.Lys1312Asn) n.4232G>T | |
2 | g.71611320C>A | CA347228319 | DYSF | c.1447C>A (p.Pro483Thr) c.664C>A (p.Pro222Thr) c.622C>A (p.Pro208Thr) c.3979C>A (p.Pro1327Thr) c.4033C>A (p.Pro1345Thr) c.3982C>A (p.Pro1328Thr) c.4030C>A (p.Pro1344Thr) c.4075C>A (p.Pro1359Thr) c.3940C>A (p.Pro1314Thr) c.4072C>A (p.Pro1358Thr) n.215C>A n.363C>A n.864C>A n.198C>A n.339C>A c.3937C>A (p.Pro1313Thr) n.4233C>A | |
2 | g.71611320C= | CA1260124034 | DYSF | c.1447C= (p.Pro483=) c.664C= (p.Pro222=) c.622C= (p.Pro208=) c.3979C= (p.Pro1327=) c.4033C= (p.Pro1345=) c.3982C= (p.Pro1328=) c.4030C= (p.Pro1344=) c.4075C= (p.Pro1359=) c.3940C= (p.Pro1314=) c.4072C= (p.Pro1358=) n.215C= n.363C= n.864C= n.198C= n.339C= c.3937C= (p.Pro1313=) n.4233C= | |
2 | g.71611320C>G | CA347228320 | DYSF | c.1447C>G (p.Pro483Ala) c.664C>G (p.Pro222Ala) c.622C>G (p.Pro208Ala) c.3979C>G (p.Pro1327Ala) c.4033C>G (p.Pro1345Ala) c.3982C>G (p.Pro1328Ala) c.4030C>G (p.Pro1344Ala) c.4075C>G (p.Pro1359Ala) c.3940C>G (p.Pro1314Ala) c.4072C>G (p.Pro1358Ala) n.215C>G n.363C>G n.864C>G n.198C>G n.339C>G c.3937C>G (p.Pro1313Ala) n.4233C>G | |
2 | g.71611320C>T | CA347228321 | DYSF | c.1447C>T (p.Pro483Ser) c.664C>T (p.Pro222Ser) c.622C>T (p.Pro208Ser) c.3979C>T (p.Pro1327Ser) c.4033C>T (p.Pro1345Ser) c.3982C>T (p.Pro1328Ser) c.4030C>T (p.Pro1344Ser) c.4075C>T (p.Pro1359Ser) c.3940C>T (p.Pro1314Ser) c.4072C>T (p.Pro1358Ser) n.215C>T n.363C>T n.864C>T n.198C>T n.339C>T c.3937C>T (p.Pro1313Ser) n.4233C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611321C>A | CA347228322 | DYSF | c.1448C>A (p.Pro483Gln) c.665C>A (p.Pro222Gln) c.623C>A (p.Pro208Gln) c.3980C>A (p.Pro1327Gln) c.4034C>A (p.Pro1345Gln) c.3983C>A (p.Pro1328Gln) c.4031C>A (p.Pro1344Gln) c.4076C>A (p.Pro1359Gln) c.3941C>A (p.Pro1314Gln) c.4073C>A (p.Pro1358Gln) n.216C>A n.364C>A n.865C>A n.199C>A n.340C>A c.3938C>A (p.Pro1313Gln) n.4234C>A | |
2 | g.71611321C= | CA1260124035 | DYSF | c.1448C= (p.Pro483=) c.665C= (p.Pro222=) c.623C= (p.Pro208=) c.3980C= (p.Pro1327=) c.4034C= (p.Pro1345=) c.3983C= (p.Pro1328=) c.4031C= (p.Pro1344=) c.4076C= (p.Pro1359=) c.3941C= (p.Pro1314=) c.4073C= (p.Pro1358=) n.216C= n.364C= n.865C= n.199C= n.340C= c.3938C= (p.Pro1313=) n.4234C= | |
2 | g.71611321C>G | CA347228323 | DYSF | c.1448C>G (p.Pro483Arg) c.665C>G (p.Pro222Arg) c.623C>G (p.Pro208Arg) c.3980C>G (p.Pro1327Arg) c.4034C>G (p.Pro1345Arg) c.3983C>G (p.Pro1328Arg) c.4031C>G (p.Pro1344Arg) c.4076C>G (p.Pro1359Arg) c.3941C>G (p.Pro1314Arg) c.4073C>G (p.Pro1358Arg) n.216C>G n.364C>G n.865C>G n.199C>G n.340C>G c.3938C>G (p.Pro1313Arg) n.4234C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71611321C>T | CA347228324 | DYSF | c.1448C>T (p.Pro483Leu) c.665C>T (p.Pro222Leu) c.623C>T (p.Pro208Leu) c.3980C>T (p.Pro1327Leu) c.4034C>T (p.Pro1345Leu) c.3983C>T (p.Pro1328Leu) c.4031C>T (p.Pro1344Leu) c.4076C>T (p.Pro1359Leu) c.3941C>T (p.Pro1314Leu) c.4073C>T (p.Pro1358Leu) n.216C>T n.364C>T n.865C>T n.199C>T n.340C>T c.3938C>T (p.Pro1313Leu) n.4234C>T | |
2 | g.71611322A= | CA1260124036 | DYSF | c.1449A= (p.Pro483=) c.666A= (p.Pro222=) c.624A= (p.Pro208=) c.3981A= (p.Pro1327=) c.4035A= (p.Pro1345=) c.3984A= (p.Pro1328=) c.4032A= (p.Pro1344=) c.4077A= (p.Pro1359=) c.3942A= (p.Pro1314=) c.4074A= (p.Pro1358=) n.217A= n.365A= n.866A= n.200A= n.341A= c.3939A= (p.Pro1313=) n.4235A= | |
2 | g.71611322A>C | CA426758712 | DYSF | c.1449A>C (p.Pro483=) c.666A>C (p.Pro222=) c.624A>C (p.Pro208=) c.3981A>C (p.Pro1327=) c.4035A>C (p.Pro1345=) c.3984A>C (p.Pro1328=) c.4032A>C (p.Pro1344=) c.4077A>C (p.Pro1359=) c.3942A>C (p.Pro1314=) c.4074A>C (p.Pro1358=) n.217A>C n.365A>C n.866A>C n.200A>C n.341A>C c.3939A>C (p.Pro1313=) n.4235A>C | |
2 | g.71611322A>G | CA426758714 | DYSF | c.1449A>G (p.Pro483=) c.666A>G (p.Pro222=) c.624A>G (p.Pro208=) c.3981A>G (p.Pro1327=) c.4035A>G (p.Pro1345=) c.3984A>G (p.Pro1328=) c.4032A>G (p.Pro1344=) c.4077A>G (p.Pro1359=) c.3942A>G (p.Pro1314=) c.4074A>G (p.Pro1358=) n.217A>G n.365A>G n.866A>G n.200A>G n.341A>G c.3939A>G (p.Pro1313=) n.4235A>G | |
2 | g.71611322A>T | CA426758715 | DYSF | c.1449A>T (p.Pro483=) c.666A>T (p.Pro222=) c.624A>T (p.Pro208=) c.3981A>T (p.Pro1327=) c.4035A>T (p.Pro1345=) c.3984A>T (p.Pro1328=) c.4032A>T (p.Pro1344=) c.4077A>T (p.Pro1359=) c.3942A>T (p.Pro1314=) c.4074A>T (p.Pro1358=) n.217A>T n.365A>T n.866A>T n.200A>T n.341A>T c.3939A>T (p.Pro1313=) n.4235A>T | |
2 | g.71611323G>A | CA347228325 | DYSF | c.1450G>A (p.Ala484Thr) c.667G>A (p.Ala223Thr) c.625G>A (p.Ala209Thr) c.3982G>A (p.Ala1328Thr) c.4036G>A (p.Ala1346Thr) c.3985G>A (p.Ala1329Thr) c.4033G>A (p.Ala1345Thr) c.4078G>A (p.Ala1360Thr) c.3943G>A (p.Ala1315Thr) c.4075G>A (p.Ala1359Thr) n.218G>A n.366G>A n.867G>A n.201G>A n.342G>A c.3940G>A (p.Ala1314Thr) n.4236G>A | |
2 | g.71611323G>C | CA347228326 | DYSF | c.1450G>C (p.Ala484Pro) c.667G>C (p.Ala223Pro) c.625G>C (p.Ala209Pro) c.3982G>C (p.Ala1328Pro) c.4036G>C (p.Ala1346Pro) c.3985G>C (p.Ala1329Pro) c.4033G>C (p.Ala1345Pro) c.4078G>C (p.Ala1360Pro) c.3943G>C (p.Ala1315Pro) c.4075G>C (p.Ala1359Pro) n.218G>C n.366G>C n.867G>C n.201G>C n.342G>C c.3940G>C (p.Ala1314Pro) n.4236G>C | |
2 | g.71611323G>T | CA347228327 | DYSF | c.1450G>T (p.Ala484Ser) c.667G>T (p.Ala223Ser) c.625G>T (p.Ala209Ser) c.3982G>T (p.Ala1328Ser) c.4036G>T (p.Ala1346Ser) c.3985G>T (p.Ala1329Ser) c.4033G>T (p.Ala1345Ser) c.4078G>T (p.Ala1360Ser) c.3943G>T (p.Ala1315Ser) c.4075G>T (p.Ala1359Ser) n.218G>T n.366G>T n.867G>T n.201G>T n.342G>T c.3940G>T (p.Ala1314Ser) n.4236G>T | |
2 | g.71611325_71611326dup | CA533655624 | DYSF | c.1452_1453dup (p.Leu485ArgfsTer17) c.669_670dup (p.Leu224ArgfsTer17) c.627_628dup (p.Leu210ArgfsTer17) c.3984_3985dup (p.Leu1329ArgfsTer17) c.4038_4039dup (p.Leu1347ArgfsTer17) c.3987_3988dup (p.Leu1330ArgfsTer17) c.4035_4036dup (p.Leu1346ArgfsTer17) c.4080_4081dup (p.Leu1361ArgfsTer17) c.3945_3946dup (p.Leu1316ArgfsTer17) c.4077_4078dup (p.Leu1360ArgfsTer17) n.220_221dup n.368_369dup n.869_870dup n.203_204dup n.344_345dup c.3942_3943dup (p.Leu1315ArgfsTer17) n.4238_4239dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611324C>A | CA347228328 | DYSF | c.1451C>A (p.Ala484Glu) c.668C>A (p.Ala223Glu) c.626C>A (p.Ala209Glu) c.3983C>A (p.Ala1328Glu) c.4037C>A (p.Ala1346Glu) c.3986C>A (p.Ala1329Glu) c.4034C>A (p.Ala1345Glu) c.4079C>A (p.Ala1360Glu) c.3944C>A (p.Ala1315Glu) c.4076C>A (p.Ala1359Glu) n.219C>A n.367C>A n.868C>A n.202C>A n.343C>A c.3941C>A (p.Ala1314Glu) n.4237C>A | dbSNP |
2 | g.71611324C= | CA1260124037 | DYSF | c.1451C= (p.Ala484=) c.668C= (p.Ala223=) c.626C= (p.Ala209=) c.3983C= (p.Ala1328=) c.4037C= (p.Ala1346=) c.3986C= (p.Ala1329=) c.4034C= (p.Ala1345=) c.4079C= (p.Ala1360=) c.3944C= (p.Ala1315=) c.4076C= (p.Ala1359=) n.219C= n.367C= n.868C= n.202C= n.343C= c.3941C= (p.Ala1314=) n.4237C= | |
2 | g.71611324C>G | CA347228329 | DYSF | c.1451C>G (p.Ala484Gly) c.668C>G (p.Ala223Gly) c.626C>G (p.Ala209Gly) c.3983C>G (p.Ala1328Gly) c.4037C>G (p.Ala1346Gly) c.3986C>G (p.Ala1329Gly) c.4034C>G (p.Ala1345Gly) c.4079C>G (p.Ala1360Gly) c.3944C>G (p.Ala1315Gly) c.4076C>G (p.Ala1359Gly) n.219C>G n.367C>G n.868C>G n.202C>G n.343C>G c.3941C>G (p.Ala1314Gly) n.4237C>G | |
2 | g.71611324C>T | CA1706844 | DYSF | c.1451C>T (p.Ala484Val) c.668C>T (p.Ala223Val) c.626C>T (p.Ala209Val) c.3983C>T (p.Ala1328Val) c.4037C>T (p.Ala1346Val) c.3986C>T (p.Ala1329Val) c.4034C>T (p.Ala1345Val) c.4079C>T (p.Ala1360Val) c.3944C>T (p.Ala1315Val) c.4076C>T (p.Ala1359Val) n.219C>T n.367C>T n.868C>T n.202C>T n.343C>T c.3941C>T (p.Ala1314Val) n.4237C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611325G>A | CA1706845 | DYSF | c.1452G>A (p.Ala484=) c.669G>A (p.Ala223=) c.627G>A (p.Ala209=) c.3984G>A (p.Ala1328=) c.4038G>A (p.Ala1346=) c.3987G>A (p.Ala1329=) c.4035G>A (p.Ala1345=) c.4080G>A (p.Ala1360=) c.3945G>A (p.Ala1315=) c.4077G>A (p.Ala1359=) n.220G>A n.368G>A n.869G>A n.203G>A n.344G>A c.3942G>A (p.Ala1314=) n.4238G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71611325G>C | CA426758727 | DYSF | c.1452G>C (p.Ala484=) c.669G>C (p.Ala223=) c.627G>C (p.Ala209=) c.3984G>C (p.Ala1328=) c.4038G>C (p.Ala1346=) c.3987G>C (p.Ala1329=) c.4035G>C (p.Ala1345=) c.4080G>C (p.Ala1360=) c.3945G>C (p.Ala1315=) c.4077G>C (p.Ala1359=) n.220G>C n.368G>C n.869G>C n.203G>C n.344G>C c.3942G>C (p.Ala1314=) n.4238G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71611325G= | CA1260124038 | DYSF | c.1452G= (p.Ala484=) c.669G= (p.Ala223=) c.627G= (p.Ala209=) c.3984G= (p.Ala1328=) c.4038G= (p.Ala1346=) c.3987G= (p.Ala1329=) c.4035G= (p.Ala1345=) c.4080G= (p.Ala1360=) c.3945G= (p.Ala1315=) c.4077G= (p.Ala1359=) n.220G= n.368G= n.869G= n.203G= n.344G= c.3942G= (p.Ala1314=) n.4238G= | |
2 | g.71611325G>T | CA426758724 | DYSF | c.1452G>T (p.Ala484=) c.669G>T (p.Ala223=) c.627G>T (p.Ala209=) c.3984G>T (p.Ala1328=) c.4038G>T (p.Ala1346=) c.3987G>T (p.Ala1329=) c.4035G>T (p.Ala1345=) c.4080G>T (p.Ala1360=) c.3945G>T (p.Ala1315=) c.4077G>T (p.Ala1359=) n.220G>T n.368G>T n.869G>T n.203G>T n.344G>T c.3942G>T (p.Ala1314=) n.4238G>T | |
2 | g.71611326C>A | CA347228330 | DYSF | c.1453C>A (p.Leu485Ile) c.670C>A (p.Leu224Ile) c.628C>A (p.Leu210Ile) c.3985C>A (p.Leu1329Ile) c.4039C>A (p.Leu1347Ile) c.3988C>A (p.Leu1330Ile) c.4036C>A (p.Leu1346Ile) c.4081C>A (p.Leu1361Ile) c.3946C>A (p.Leu1316Ile) c.4078C>A (p.Leu1360Ile) n.221C>A n.369C>A n.870C>A n.204C>A n.345C>A c.3943C>A (p.Leu1315Ile) n.4239C>A | dbSNP gnomAD v4 |
2 | g.71611326C= | CA1260124039 | DYSF | c.1453C= (p.Leu485=) c.670C= (p.Leu224=) c.628C= (p.Leu210=) c.3985C= (p.Leu1329=) c.4039C= (p.Leu1347=) c.3988C= (p.Leu1330=) c.4036C= (p.Leu1346=) c.4081C= (p.Leu1361=) c.3946C= (p.Leu1316=) c.4078C= (p.Leu1360=) n.221C= n.369C= n.870C= n.204C= n.345C= c.3943C= (p.Leu1315=) n.4239C= | |
2 | g.71611326C>G | CA347228331 | DYSF | c.1453C>G (p.Leu485Val) c.670C>G (p.Leu224Val) c.628C>G (p.Leu210Val) c.3985C>G (p.Leu1329Val) c.4039C>G (p.Leu1347Val) c.3988C>G (p.Leu1330Val) c.4036C>G (p.Leu1346Val) c.4081C>G (p.Leu1361Val) c.3946C>G (p.Leu1316Val) c.4078C>G (p.Leu1360Val) n.221C>G n.369C>G n.870C>G n.204C>G n.345C>G c.3943C>G (p.Leu1315Val) n.4239C>G | |
2 | g.71611326C>T | CA1706846 | DYSF | c.1453C>T (p.Leu485Phe) c.670C>T (p.Leu224Phe) c.628C>T (p.Leu210Phe) c.3985C>T (p.Leu1329Phe) c.4039C>T (p.Leu1347Phe) c.3988C>T (p.Leu1330Phe) c.4036C>T (p.Leu1346Phe) c.4081C>T (p.Leu1361Phe) c.3946C>T (p.Leu1316Phe) c.4078C>T (p.Leu1360Phe) n.221C>T n.369C>T n.870C>T n.204C>T n.345C>T c.3943C>T (p.Leu1315Phe) n.4239C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611327T>A | CA347228332 | DYSF | c.1454T>A (p.Leu485His) c.671T>A (p.Leu224His) c.629T>A (p.Leu210His) c.3986T>A (p.Leu1329His) c.4040T>A (p.Leu1347His) c.3989T>A (p.Leu1330His) c.4037T>A (p.Leu1346His) c.4082T>A (p.Leu1361His) c.3947T>A (p.Leu1316His) c.4079T>A (p.Leu1360His) n.222T>A n.370T>A n.871T>A n.205T>A n.346T>A c.3944T>A (p.Leu1315His) n.4240T>A | |
2 | g.71611327T>C | CA347228333 | DYSF | c.1454T>C (p.Leu485Pro) c.671T>C (p.Leu224Pro) c.629T>C (p.Leu210Pro) c.3986T>C (p.Leu1329Pro) c.4040T>C (p.Leu1347Pro) c.3989T>C (p.Leu1330Pro) c.4037T>C (p.Leu1346Pro) c.4082T>C (p.Leu1361Pro) c.3947T>C (p.Leu1316Pro) c.4079T>C (p.Leu1360Pro) n.222T>C n.370T>C n.871T>C n.205T>C n.346T>C c.3944T>C (p.Leu1315Pro) n.4240T>C | gnomAD v4 |
2 | g.71611327T>G | CA347228334 | DYSF | c.1454T>G (p.Leu485Arg) c.671T>G (p.Leu224Arg) c.629T>G (p.Leu210Arg) c.3986T>G (p.Leu1329Arg) c.4040T>G (p.Leu1347Arg) c.3989T>G (p.Leu1330Arg) c.4037T>G (p.Leu1346Arg) c.4082T>G (p.Leu1361Arg) c.3947T>G (p.Leu1316Arg) c.4079T>G (p.Leu1360Arg) n.222T>G n.370T>G n.871T>G n.205T>G n.346T>G c.3944T>G (p.Leu1315Arg) n.4240T>G | |
2 | g.71611328C>A | CA426758734 | DYSF | c.1455C>A (p.Leu485=) c.672C>A (p.Leu224=) c.630C>A (p.Leu210=) c.3987C>A (p.Leu1329=) c.4041C>A (p.Leu1347=) c.3990C>A (p.Leu1330=) c.4038C>A (p.Leu1346=) c.4083C>A (p.Leu1361=) c.3948C>A (p.Leu1316=) c.4080C>A (p.Leu1360=) n.223C>A n.371C>A n.872C>A n.206C>A n.347C>A c.3945C>A (p.Leu1315=) n.4241C>A | gnomAD v4 |
2 | g.71611328C>G | CA426758731 | DYSF | c.1455C>G (p.Leu485=) c.672C>G (p.Leu224=) c.630C>G (p.Leu210=) c.3987C>G (p.Leu1329=) c.4041C>G (p.Leu1347=) c.3990C>G (p.Leu1330=) c.4038C>G (p.Leu1346=) c.4083C>G (p.Leu1361=) c.3948C>G (p.Leu1316=) c.4080C>G (p.Leu1360=) n.223C>G n.371C>G n.872C>G n.206C>G n.347C>G c.3945C>G (p.Leu1315=) n.4241C>G | |
2 | g.71611328C>T | CA426758733 | DYSF | c.1455C>T (p.Leu485=) c.672C>T (p.Leu224=) c.630C>T (p.Leu210=) c.3987C>T (p.Leu1329=) c.4041C>T (p.Leu1347=) c.3990C>T (p.Leu1330=) c.4038C>T (p.Leu1346=) c.4083C>T (p.Leu1361=) c.3948C>T (p.Leu1316=) c.4080C>T (p.Leu1360=) n.223C>T n.371C>T n.872C>T n.206C>T n.347C>T c.3945C>T (p.Leu1315=) n.4241C>T | |
2 | g.71611329C>A | CA347228335 | DYSF | c.1456C>A (p.Gln486Lys) c.673C>A (p.Gln225Lys) c.631C>A (p.Gln211Lys) c.3988C>A (p.Gln1330Lys) c.4042C>A (p.Gln1348Lys) c.3991C>A (p.Gln1331Lys) c.4039C>A (p.Gln1347Lys) c.4084C>A (p.Gln1362Lys) c.3949C>A (p.Gln1317Lys) c.4081C>A (p.Gln1361Lys) n.224C>A n.372C>A n.873C>A n.207C>A n.348C>A c.3946C>A (p.Gln1316Lys) n.4242C>A | |
2 | g.71611329C= | CA1260124040 | DYSF | c.1456C= (p.Gln486=) c.673C= (p.Gln225=) c.631C= (p.Gln211=) c.3988C= (p.Gln1330=) c.4042C= (p.Gln1348=) c.3991C= (p.Gln1331=) c.4039C= (p.Gln1347=) c.4084C= (p.Gln1362=) c.3949C= (p.Gln1317=) c.4081C= (p.Gln1361=) n.224C= n.372C= n.873C= n.207C= n.348C= c.3946C= (p.Gln1316=) n.4242C= | |
2 | g.71611329C>G | CA347228336 | DYSF | c.1456C>G (p.Gln486Glu) c.673C>G (p.Gln225Glu) c.631C>G (p.Gln211Glu) c.3988C>G (p.Gln1330Glu) c.4042C>G (p.Gln1348Glu) c.3991C>G (p.Gln1331Glu) c.4039C>G (p.Gln1347Glu) c.4084C>G (p.Gln1362Glu) c.3949C>G (p.Gln1317Glu) c.4081C>G (p.Gln1361Glu) n.224C>G n.372C>G n.873C>G n.207C>G n.348C>G c.3946C>G (p.Gln1316Glu) n.4242C>G | |
2 | g.71611329C>T | CA49778670 | DYSF | c.1456C>T (p.Gln486Ter) c.673C>T (p.Gln225Ter) c.631C>T (p.Gln211Ter) c.3988C>T (p.Gln1330Ter) c.4042C>T (p.Gln1348Ter) c.3991C>T (p.Gln1331Ter) c.4039C>T (p.Gln1347Ter) c.4084C>T (p.Gln1362Ter) c.3949C>T (p.Gln1317Ter) c.4081C>T (p.Gln1361Ter) n.224C>T n.372C>T n.873C>T n.207C>T n.348C>T c.3946C>T (p.Gln1316Ter) n.4242C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71611330A>C | CA347228339 | DYSF | c.1457A>C (p.Gln486Pro) c.674A>C (p.Gln225Pro) c.632A>C (p.Gln211Pro) c.3989A>C (p.Gln1330Pro) c.4043A>C (p.Gln1348Pro) c.3992A>C (p.Gln1331Pro) c.4040A>C (p.Gln1347Pro) c.4085A>C (p.Gln1362Pro) c.3950A>C (p.Gln1317Pro) c.4082A>C (p.Gln1361Pro) n.225A>C n.373A>C n.874A>C n.208A>C n.349A>C c.3947A>C (p.Gln1316Pro) n.4243A>C | |
2 | g.71611330A>G | CA347228337 | DYSF | c.1457A>G (p.Gln486Arg) c.674A>G (p.Gln225Arg) c.632A>G (p.Gln211Arg) c.3989A>G (p.Gln1330Arg) c.4043A>G (p.Gln1348Arg) c.3992A>G (p.Gln1331Arg) c.4040A>G (p.Gln1347Arg) c.4085A>G (p.Gln1362Arg) c.3950A>G (p.Gln1317Arg) c.4082A>G (p.Gln1361Arg) n.225A>G n.373A>G n.874A>G n.208A>G n.349A>G c.3947A>G (p.Gln1316Arg) n.4243A>G | |
2 | g.71611330A>T | CA347228338 | DYSF | c.1457A>T (p.Gln486Leu) c.674A>T (p.Gln225Leu) c.632A>T (p.Gln211Leu) c.3989A>T (p.Gln1330Leu) c.4043A>T (p.Gln1348Leu) c.3992A>T (p.Gln1331Leu) c.4040A>T (p.Gln1347Leu) c.4085A>T (p.Gln1362Leu) c.3950A>T (p.Gln1317Leu) c.4082A>T (p.Gln1361Leu) n.225A>T n.373A>T n.874A>T n.208A>T n.349A>T c.3947A>T (p.Gln1316Leu) n.4243A>T | |
2 | g.71611331G>A | CA426758740 | DYSF | c.1458G>A (p.Gln486=) c.675G>A (p.Gln225=) c.633G>A (p.Gln211=) c.3990G>A (p.Gln1330=) c.4044G>A (p.Gln1348=) c.3993G>A (p.Gln1331=) c.4041G>A (p.Gln1347=) c.4086G>A (p.Gln1362=) c.3951G>A (p.Gln1317=) c.4083G>A (p.Gln1361=) n.226G>A n.374G>A n.875G>A n.209G>A n.350G>A c.3948G>A (p.Gln1316=) n.4244G>A | |
2 | g.71611331G>C | CA347228340 | DYSF | c.1458G>C (p.Gln486His) c.675G>C (p.Gln225His) c.633G>C (p.Gln211His) c.3990G>C (p.Gln1330His) c.4044G>C (p.Gln1348His) c.3993G>C (p.Gln1331His) c.4041G>C (p.Gln1347His) c.4086G>C (p.Gln1362His) c.3951G>C (p.Gln1317His) c.4083G>C (p.Gln1361His) n.226G>C n.374G>C n.875G>C n.209G>C n.350G>C c.3948G>C (p.Gln1316His) n.4244G>C | |
2 | g.71611331G>T | CA347228341 | DYSF | c.1458G>T (p.Gln486His) c.675G>T (p.Gln225His) c.633G>T (p.Gln211His) c.3990G>T (p.Gln1330His) c.4044G>T (p.Gln1348His) c.3993G>T (p.Gln1331His) c.4041G>T (p.Gln1347His) c.4086G>T (p.Gln1362His) c.3951G>T (p.Gln1317His) c.4083G>T (p.Gln1361His) n.226G>T n.374G>T n.875G>T n.209G>T n.350G>T c.3948G>T (p.Gln1316His) n.4244G>T | |
2 | g.71611332C>A | CA347228342 | DYSF | c.1459C>A (p.Arg487Ser) c.676C>A (p.Arg226Ser) c.634C>A (p.Arg212Ser) c.3991C>A (p.Arg1331Ser) c.4045C>A (p.Arg1349Ser) c.3994C>A (p.Arg1332Ser) c.4042C>A (p.Arg1348Ser) c.4087C>A (p.Arg1363Ser) c.3952C>A (p.Arg1318Ser) c.4084C>A (p.Arg1362Ser) n.227C>A n.375C>A n.876C>A n.210C>A n.351C>A c.3949C>A (p.Arg1317Ser) n.4245C>A | |
2 | g.71611332C= | CA1260124041 | DYSF | c.1459C= (p.Arg487=) c.676C= (p.Arg226=) c.634C= (p.Arg212=) c.3991C= (p.Arg1331=) c.4045C= (p.Arg1349=) c.3994C= (p.Arg1332=) c.4042C= (p.Arg1348=) c.4087C= (p.Arg1363=) c.3952C= (p.Arg1318=) c.4084C= (p.Arg1362=) n.227C= n.375C= n.876C= n.210C= n.351C= c.3949C= (p.Arg1317=) n.4245C= | |
2 | g.71611332C>G | CA347228343 | DYSF | c.1459C>G (p.Arg487Gly) c.676C>G (p.Arg226Gly) c.634C>G (p.Arg212Gly) c.3991C>G (p.Arg1331Gly) c.4045C>G (p.Arg1349Gly) c.3994C>G (p.Arg1332Gly) c.4042C>G (p.Arg1348Gly) c.4087C>G (p.Arg1363Gly) c.3952C>G (p.Arg1318Gly) c.4084C>G (p.Arg1362Gly) n.227C>G n.375C>G n.876C>G n.210C>G n.351C>G c.3949C>G (p.Arg1317Gly) n.4245C>G | |
2 | g.71611332C>T | CA1706847 | DYSF | c.1459C>T (p.Arg487Cys) c.676C>T (p.Arg226Cys) c.634C>T (p.Arg212Cys) c.3991C>T (p.Arg1331Cys) c.4045C>T (p.Arg1349Cys) c.3994C>T (p.Arg1332Cys) c.4042C>T (p.Arg1348Cys) c.4087C>T (p.Arg1363Cys) c.3952C>T (p.Arg1318Cys) c.4084C>T (p.Arg1362Cys) n.227C>T n.375C>T n.876C>T n.210C>T n.351C>T c.3949C>T (p.Arg1317Cys) n.4245C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611333G>A | CA1706848 | DYSF | c.1460G>A (p.Arg487His) c.677G>A (p.Arg226His) c.635G>A (p.Arg212His) c.3992G>A (p.Arg1331His) c.4046G>A (p.Arg1349His) c.3995G>A (p.Arg1332His) c.4043G>A (p.Arg1348His) c.4088G>A (p.Arg1363His) c.3953G>A (p.Arg1318His) c.4085G>A (p.Arg1362His) n.228G>A n.376G>A n.877G>A n.211G>A n.352G>A c.3950G>A (p.Arg1317His) n.4246G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611333G>C | CA1706849 | DYSF | c.1460G>C (p.Arg487Pro) c.677G>C (p.Arg226Pro) c.635G>C (p.Arg212Pro) c.3992G>C (p.Arg1331Pro) c.4046G>C (p.Arg1349Pro) c.3995G>C (p.Arg1332Pro) c.4043G>C (p.Arg1348Pro) c.4088G>C (p.Arg1363Pro) c.3953G>C (p.Arg1318Pro) c.4085G>C (p.Arg1362Pro) n.228G>C n.376G>C n.877G>C n.211G>C n.352G>C c.3950G>C (p.Arg1317Pro) n.4246G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611333G= | CA1260124042 | DYSF | c.1460G= (p.Arg487=) c.677G= (p.Arg226=) c.635G= (p.Arg212=) c.3992G= (p.Arg1331=) c.4046G= (p.Arg1349=) c.3995G= (p.Arg1332=) c.4043G= (p.Arg1348=) c.4088G= (p.Arg1363=) c.3953G= (p.Arg1318=) c.4085G= (p.Arg1362=) n.228G= n.376G= n.877G= n.211G= n.352G= c.3950G= (p.Arg1317=) n.4246G= | |
2 | g.71611333G>T | CA147753 | DYSF | c.1460G>T (p.Arg487Leu) c.677G>T (p.Arg226Leu) c.635G>T (p.Arg212Leu) c.3992G>T (p.Arg1331Leu) c.4046G>T (p.Arg1349Leu) c.3995G>T (p.Arg1332Leu) c.4043G>T (p.Arg1348Leu) c.4088G>T (p.Arg1363Leu) c.3953G>T (p.Arg1318Leu) c.4085G>T (p.Arg1362Leu) n.228G>T n.376G>T n.877G>T n.211G>T n.352G>T c.3950G>T (p.Arg1317Leu) n.4246G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611334T>A | CA426758747 | DYSF | c.1461T>A (p.Arg487=) c.678T>A (p.Arg226=) c.636T>A (p.Arg212=) c.3993T>A (p.Arg1331=) c.4047T>A (p.Arg1349=) c.3996T>A (p.Arg1332=) c.4044T>A (p.Arg1348=) c.4089T>A (p.Arg1363=) c.3954T>A (p.Arg1318=) c.4086T>A (p.Arg1362=) n.229T>A n.377T>A n.878T>A n.212T>A n.353T>A c.3951T>A (p.Arg1317=) n.4247T>A | |
2 | g.71611334T>C | CA426758749 | DYSF | c.1461T>C (p.Arg487=) c.678T>C (p.Arg226=) c.636T>C (p.Arg212=) c.3993T>C (p.Arg1331=) c.4047T>C (p.Arg1349=) c.3996T>C (p.Arg1332=) c.4044T>C (p.Arg1348=) c.4089T>C (p.Arg1363=) c.3954T>C (p.Arg1318=) c.4086T>C (p.Arg1362=) n.229T>C n.377T>C n.878T>C n.212T>C n.353T>C c.3951T>C (p.Arg1317=) n.4247T>C | |
2 | g.71611334T>G | CA426758751 | DYSF | c.1461T>G (p.Arg487=) c.678T>G (p.Arg226=) c.636T>G (p.Arg212=) c.3993T>G (p.Arg1331=) c.4047T>G (p.Arg1349=) c.3996T>G (p.Arg1332=) c.4044T>G (p.Arg1348=) c.4089T>G (p.Arg1363=) c.3954T>G (p.Arg1318=) c.4086T>G (p.Arg1362=) n.229T>G n.377T>G n.878T>G n.212T>G n.353T>G c.3951T>G (p.Arg1317=) n.4247T>G | |
2 | g.71611335A= | CA1260124043 | DYSF | c.1462A= (p.Thr488=) c.679A= (p.Thr227=) c.637A= (p.Thr213=) c.3994A= (p.Thr1332=) c.4048A= (p.Thr1350=) c.3997A= (p.Thr1333=) c.4045A= (p.Thr1349=) c.4090A= (p.Thr1364=) c.3955A= (p.Thr1319=) c.4087A= (p.Thr1363=) n.230A= n.378A= n.879A= n.213A= n.354A= c.3952A= (p.Thr1318=) n.4248A= | |
2 | g.71611335A>C | CA347228344 | DYSF | c.1462A>C (p.Thr488Pro) c.679A>C (p.Thr227Pro) c.637A>C (p.Thr213Pro) c.3994A>C (p.Thr1332Pro) c.4048A>C (p.Thr1350Pro) c.3997A>C (p.Thr1333Pro) c.4045A>C (p.Thr1349Pro) c.4090A>C (p.Thr1364Pro) c.3955A>C (p.Thr1319Pro) c.4087A>C (p.Thr1363Pro) n.230A>C n.378A>C n.879A>C n.213A>C n.354A>C c.3952A>C (p.Thr1318Pro) n.4248A>C | dbSNP |
2 | g.71611335A>G | CA347228345 | DYSF | c.1462A>G (p.Thr488Ala) c.679A>G (p.Thr227Ala) c.637A>G (p.Thr213Ala) c.3994A>G (p.Thr1332Ala) c.4048A>G (p.Thr1350Ala) c.3997A>G (p.Thr1333Ala) c.4045A>G (p.Thr1349Ala) c.4090A>G (p.Thr1364Ala) c.3955A>G (p.Thr1319Ala) c.4087A>G (p.Thr1363Ala) n.230A>G n.378A>G n.879A>G n.213A>G n.354A>G c.3952A>G (p.Thr1318Ala) n.4248A>G | |
2 | g.71611335A>T | CA347228346 | DYSF | c.1462A>T (p.Thr488Ser) c.679A>T (p.Thr227Ser) c.637A>T (p.Thr213Ser) c.3994A>T (p.Thr1332Ser) c.4048A>T (p.Thr1350Ser) c.3997A>T (p.Thr1333Ser) c.4045A>T (p.Thr1349Ser) c.4090A>T (p.Thr1364Ser) c.3955A>T (p.Thr1319Ser) c.4087A>T (p.Thr1363Ser) n.230A>T n.378A>T n.879A>T n.213A>T n.354A>T c.3952A>T (p.Thr1318Ser) n.4248A>T | |
2 | g.71611336C>A | CA347228347 | DYSF | c.1463C>A (p.Thr488Asn) c.680C>A (p.Thr227Asn) c.638C>A (p.Thr213Asn) c.3995C>A (p.Thr1332Asn) c.4049C>A (p.Thr1350Asn) c.3998C>A (p.Thr1333Asn) c.4046C>A (p.Thr1349Asn) c.4091C>A (p.Thr1364Asn) c.3956C>A (p.Thr1319Asn) c.4088C>A (p.Thr1363Asn) n.231C>A n.379C>A n.880C>A n.214C>A n.355C>A c.3953C>A (p.Thr1318Asn) n.4249C>A | |
2 | g.71611336C>G | CA347228348 | DYSF | c.1463C>G (p.Thr488Ser) c.680C>G (p.Thr227Ser) c.638C>G (p.Thr213Ser) c.3995C>G (p.Thr1332Ser) c.4049C>G (p.Thr1350Ser) c.3998C>G (p.Thr1333Ser) c.4046C>G (p.Thr1349Ser) c.4091C>G (p.Thr1364Ser) c.3956C>G (p.Thr1319Ser) c.4088C>G (p.Thr1363Ser) n.231C>G n.379C>G n.880C>G n.214C>G n.355C>G c.3953C>G (p.Thr1318Ser) n.4249C>G | |
2 | g.71611336C>T | CA347228349 | DYSF | c.1463C>T (p.Thr488Ile) c.680C>T (p.Thr227Ile) c.638C>T (p.Thr213Ile) c.3995C>T (p.Thr1332Ile) c.4049C>T (p.Thr1350Ile) c.3998C>T (p.Thr1333Ile) c.4046C>T (p.Thr1349Ile) c.4091C>T (p.Thr1364Ile) c.3956C>T (p.Thr1319Ile) c.4088C>T (p.Thr1363Ile) n.231C>T n.379C>T n.880C>T n.214C>T n.355C>T c.3953C>T (p.Thr1318Ile) n.4249C>T | |
2 | g.71611337C>A | CA426758753 | DYSF | c.1464C>A (p.Thr488=) c.681C>A (p.Thr227=) c.639C>A (p.Thr213=) c.3996C>A (p.Thr1332=) c.4050C>A (p.Thr1350=) c.3999C>A (p.Thr1333=) c.4047C>A (p.Thr1349=) c.4092C>A (p.Thr1364=) c.3957C>A (p.Thr1319=) c.4089C>A (p.Thr1363=) n.232C>A n.380C>A n.881C>A n.215C>A n.356C>A c.3954C>A (p.Thr1318=) n.4250C>A | |
2 | g.71611337C= | CA1260124044 | DYSF | c.1464C= (p.Thr488=) c.681C= (p.Thr227=) c.639C= (p.Thr213=) c.3996C= (p.Thr1332=) c.4050C= (p.Thr1350=) c.3999C= (p.Thr1333=) c.4047C= (p.Thr1349=) c.4092C= (p.Thr1364=) c.3957C= (p.Thr1319=) c.4089C= (p.Thr1363=) n.232C= n.380C= n.881C= n.215C= n.356C= c.3954C= (p.Thr1318=) n.4250C= | |
2 | g.71611337C>G | CA426758754 | DYSF | c.1464C>G (p.Thr488=) c.681C>G (p.Thr227=) c.639C>G (p.Thr213=) c.3996C>G (p.Thr1332=) c.4050C>G (p.Thr1350=) c.3999C>G (p.Thr1333=) c.4047C>G (p.Thr1349=) c.4092C>G (p.Thr1364=) c.3957C>G (p.Thr1319=) c.4089C>G (p.Thr1363=) n.232C>G n.380C>G n.881C>G n.215C>G n.356C>G c.3954C>G (p.Thr1318=) n.4250C>G | |
2 | g.71611337C>T | CA1706850 | DYSF | c.1464C>T (p.Thr488=) c.681C>T (p.Thr227=) c.639C>T (p.Thr213=) c.3996C>T (p.Thr1332=) c.4050C>T (p.Thr1350=) c.3999C>T (p.Thr1333=) c.4047C>T (p.Thr1349=) c.4092C>T (p.Thr1364=) c.3957C>T (p.Thr1319=) c.4089C>T (p.Thr1363=) n.232C>T n.380C>T n.881C>T n.215C>T n.356C>T c.3954C>T (p.Thr1318=) n.4250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611337_71611341del | CA2659553223 | DYSF | c.1464_1468del (p.Ala489ArgfsTer?) c.681_685del (p.Ala228ArgfsTer?) c.639_643del (p.Ala214ArgfsTer?) c.3996_4000del (p.Ala1333ArgfsTer?) c.4050_4054del (p.Ala1351ArgfsTer?) c.3999_4003del (p.Ala1334ArgfsTer?) c.4047_4051del (p.Ala1350ArgfsTer?) c.4092_4096del (p.Ala1365ArgfsTer?) c.3957_3961del (p.Ala1320ArgfsTer?) c.4089_4093del (p.Ala1364ArgfsTer?) n.232_236del n.380_384del n.881_885del n.215_219del n.356_360del c.3954_3958del (p.Ala1319ArgfsTer?) n.4250_4254del | gnomAD v4 |
2 | g.71611338G>A | CA1706851 | DYSF | c.1465G>A (p.Ala489Thr) c.682G>A (p.Ala228Thr) c.640G>A (p.Ala214Thr) c.3997G>A (p.Ala1333Thr) c.4051G>A (p.Ala1351Thr) c.4000G>A (p.Ala1334Thr) c.4048G>A (p.Ala1350Thr) c.4093G>A (p.Ala1365Thr) c.3958G>A (p.Ala1320Thr) c.4090G>A (p.Ala1364Thr) n.233G>A n.381G>A n.882G>A n.216G>A n.357G>A c.3955G>A (p.Ala1319Thr) n.4251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.71611338G>C | CA347228350 | DYSF | c.1465G>C (p.Ala489Pro) c.682G>C (p.Ala228Pro) c.640G>C (p.Ala214Pro) c.3997G>C (p.Ala1333Pro) c.4051G>C (p.Ala1351Pro) c.4000G>C (p.Ala1334Pro) c.4048G>C (p.Ala1350Pro) c.4093G>C (p.Ala1365Pro) c.3958G>C (p.Ala1320Pro) c.4090G>C (p.Ala1364Pro) n.233G>C n.381G>C n.882G>C n.216G>C n.357G>C c.3955G>C (p.Ala1319Pro) n.4251G>C | |
2 | g.71611338G= | CA1260124045 | DYSF | c.1465G= (p.Ala489=) c.682G= (p.Ala228=) c.640G= (p.Ala214=) c.3997G= (p.Ala1333=) c.4051G= (p.Ala1351=) c.4000G= (p.Ala1334=) c.4048G= (p.Ala1350=) c.4093G= (p.Ala1365=) c.3958G= (p.Ala1320=) c.4090G= (p.Ala1364=) n.233G= n.381G= n.882G= n.216G= n.357G= c.3955G= (p.Ala1319=) n.4251G= | |
2 | g.71611338G>T | CA347228351 | DYSF | c.1465G>T (p.Ala489Ser) c.682G>T (p.Ala228Ser) c.640G>T (p.Ala214Ser) c.3997G>T (p.Ala1333Ser) c.4051G>T (p.Ala1351Ser) c.4000G>T (p.Ala1334Ser) c.4048G>T (p.Ala1350Ser) c.4093G>T (p.Ala1365Ser) c.3958G>T (p.Ala1320Ser) c.4090G>T (p.Ala1364Ser) n.233G>T n.381G>T n.882G>T n.216G>T n.357G>T c.3955G>T (p.Ala1319Ser) n.4251G>T | |
2 | g.71611339C>A | CA347228352 | DYSF | c.1466C>A (p.Ala489Asp) c.683C>A (p.Ala228Asp) c.641C>A (p.Ala214Asp) c.3998C>A (p.Ala1333Asp) c.4052C>A (p.Ala1351Asp) c.4001C>A (p.Ala1334Asp) c.4049C>A (p.Ala1350Asp) c.4094C>A (p.Ala1365Asp) c.3959C>A (p.Ala1320Asp) c.4091C>A (p.Ala1364Asp) n.234C>A n.382C>A n.883C>A n.217C>A n.358C>A c.3956C>A (p.Ala1319Asp) n.4252C>A | |
2 | g.71611339C>G | CA347228354 | DYSF | c.1466C>G (p.Ala489Gly) c.683C>G (p.Ala228Gly) c.641C>G (p.Ala214Gly) c.3998C>G (p.Ala1333Gly) c.4052C>G (p.Ala1351Gly) c.4001C>G (p.Ala1334Gly) c.4049C>G (p.Ala1350Gly) c.4094C>G (p.Ala1365Gly) c.3959C>G (p.Ala1320Gly) c.4091C>G (p.Ala1364Gly) n.234C>G n.382C>G n.883C>G n.217C>G n.358C>G c.3956C>G (p.Ala1319Gly) n.4252C>G | |
2 | g.71611339C>T | CA347228353 | DYSF | c.1466C>T (p.Ala489Val) c.683C>T (p.Ala228Val) c.641C>T (p.Ala214Val) c.3998C>T (p.Ala1333Val) c.4052C>T (p.Ala1351Val) c.4001C>T (p.Ala1334Val) c.4049C>T (p.Ala1350Val) c.4094C>T (p.Ala1365Val) c.3959C>T (p.Ala1320Val) c.4091C>T (p.Ala1364Val) n.234C>T n.382C>T n.883C>T n.217C>T n.358C>T c.3956C>T (p.Ala1319Val) n.4252C>T | |
2 | g.71611340del | CA2580067817 | DYSF | c.1467del (p.Ile490SerfsTer11) c.684del (p.Ile229SerfsTer11) c.642del (p.Ile215SerfsTer11) c.3999del (p.Ile1334SerfsTer11) c.4053del (p.Ile1352SerfsTer11) c.4002del (p.Ile1335SerfsTer11) c.4050del (p.Ile1351SerfsTer11) c.4095del (p.Ile1366SerfsTer11) c.3960del (p.Ile1321SerfsTer11) c.4092del (p.Ile1365SerfsTer11) n.235del n.383del n.884del n.218del n.359del c.3957del (p.Ile1320SerfsTer11) n.4253del | ClinVar |
2 | g.71611340C>A | CA426758761 | DYSF | c.1467C>A (p.Ala489=) c.684C>A (p.Ala228=) c.642C>A (p.Ala214=) c.3999C>A (p.Ala1333=) c.4053C>A (p.Ala1351=) c.4002C>A (p.Ala1334=) c.4050C>A (p.Ala1350=) c.4095C>A (p.Ala1365=) c.3960C>A (p.Ala1320=) c.4092C>A (p.Ala1364=) n.235C>A n.383C>A n.884C>A n.218C>A n.359C>A c.3957C>A (p.Ala1319=) n.4253C>A | |
2 | g.71611340C= | CA1260124046 | DYSF | c.1467C= (p.Ala489=) c.684C= (p.Ala228=) c.642C= (p.Ala214=) c.3999C= (p.Ala1333=) c.4053C= (p.Ala1351=) c.4002C= (p.Ala1334=) c.4050C= (p.Ala1350=) c.4095C= (p.Ala1365=) c.3960C= (p.Ala1320=) c.4092C= (p.Ala1364=) n.235C= n.383C= n.884C= n.218C= n.359C= c.3957C= (p.Ala1319=) n.4253C= | |
2 | g.71611340C>G | CA49778693 | DYSF | c.1467C>G (p.Ala489=) c.684C>G (p.Ala228=) c.642C>G (p.Ala214=) c.3999C>G (p.Ala1333=) c.4053C>G (p.Ala1351=) c.4002C>G (p.Ala1334=) c.4050C>G (p.Ala1350=) c.4095C>G (p.Ala1365=) c.3960C>G (p.Ala1320=) c.4092C>G (p.Ala1364=) n.235C>G n.383C>G n.884C>G n.218C>G n.359C>G c.3957C>G (p.Ala1319=) n.4253C>G | dbSNP |
2 | g.71611340C>T | CA426758762 | DYSF | c.1467C>T (p.Ala489=) c.684C>T (p.Ala228=) c.642C>T (p.Ala214=) c.3999C>T (p.Ala1333=) c.4053C>T (p.Ala1351=) c.4002C>T (p.Ala1334=) c.4050C>T (p.Ala1350=) c.4095C>T (p.Ala1365=) c.3960C>T (p.Ala1320=) c.4092C>T (p.Ala1364=) n.235C>T n.383C>T n.884C>T n.218C>T n.359C>T c.3957C>T (p.Ala1319=) n.4253C>T | ClinVar dbSNP |