| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71611527C>A | CA347228514 | DYSF | c.1536C>A (p.Ser512Arg) c.753C>A (p.Ser251Arg) c.711C>A (p.Ser237Arg) c.4068C>A (p.Ser1356Arg) c.4122C>A (p.Ser1374Arg) c.4071C>A (p.Ser1357Arg) c.4119C>A (p.Ser1373Arg) c.4164C>A (p.Ser1388Arg) c.4029C>A (p.Ser1343Arg) c.4161C>A (p.Ser1387Arg) n.304C>A n.452C>A n.953C>A n.287C>A n.366C>A c.4026C>A (p.Ser1342Arg) n.4322C>A | dbSNP |
| 2 | g.71611527C= | CA1260124150 | DYSF | c.1536C= (p.Ser512=) c.753C= (p.Ser251=) c.711C= (p.Ser237=) c.4068C= (p.Ser1356=) c.4122C= (p.Ser1374=) c.4071C= (p.Ser1357=) c.4119C= (p.Ser1373=) c.4164C= (p.Ser1388=) c.4029C= (p.Ser1343=) c.4161C= (p.Ser1387=) n.304C= n.452C= n.953C= n.287C= n.366C= c.4026C= (p.Ser1342=) n.4322C= | |
| 2 | g.71611527C>G | CA347228515 | DYSF | c.1536C>G (p.Ser512Arg) c.753C>G (p.Ser251Arg) c.711C>G (p.Ser237Arg) c.4068C>G (p.Ser1356Arg) c.4122C>G (p.Ser1374Arg) c.4071C>G (p.Ser1357Arg) c.4119C>G (p.Ser1373Arg) c.4164C>G (p.Ser1388Arg) c.4029C>G (p.Ser1343Arg) c.4161C>G (p.Ser1387Arg) n.304C>G n.452C>G n.953C>G n.287C>G n.366C>G c.4026C>G (p.Ser1342Arg) n.4322C>G | |
| 2 | g.71611527C>T | CA147757 | DYSF | c.1536C>T (p.Ser512=) c.753C>T (p.Ser251=) c.711C>T (p.Ser237=) c.4068C>T (p.Ser1356=) c.4122C>T (p.Ser1374=) c.4071C>T (p.Ser1357=) c.4119C>T (p.Ser1373=) c.4164C>T (p.Ser1388=) c.4029C>T (p.Ser1343=) c.4161C>T (p.Ser1387=) n.304C>T n.452C>T n.953C>T n.287C>T n.366C>T c.4026C>T (p.Ser1342=) n.4322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611528C>A | CA347228516 | DYSF | c.1537C>A (p.Leu513Ile) c.754C>A (p.Leu252Ile) c.712C>A (p.Leu238Ile) c.4069C>A (p.Leu1357Ile) c.4123C>A (p.Leu1375Ile) c.4072C>A (p.Leu1358Ile) c.4120C>A (p.Leu1374Ile) c.4165C>A (p.Leu1389Ile) c.4030C>A (p.Leu1344Ile) c.4162C>A (p.Leu1388Ile) n.305C>A n.453C>A n.954C>A n.288C>A n.367C>A c.4027C>A (p.Leu1343Ile) n.4323C>A | |
| 2 | g.71611528C= | CA1260124151 | DYSF | c.1537C= (p.Leu513=) c.754C= (p.Leu252=) c.712C= (p.Leu238=) c.4069C= (p.Leu1357=) c.4123C= (p.Leu1375=) c.4072C= (p.Leu1358=) c.4120C= (p.Leu1374=) c.4165C= (p.Leu1389=) c.4030C= (p.Leu1344=) c.4162C= (p.Leu1388=) n.305C= n.453C= n.954C= n.288C= n.367C= c.4027C= (p.Leu1343=) n.4323C= | |
| 2 | g.71611528C>G | CA347228517 | DYSF | c.1537C>G (p.Leu513Val) c.754C>G (p.Leu252Val) c.712C>G (p.Leu238Val) c.4069C>G (p.Leu1357Val) c.4123C>G (p.Leu1375Val) c.4072C>G (p.Leu1358Val) c.4120C>G (p.Leu1374Val) c.4165C>G (p.Leu1389Val) c.4030C>G (p.Leu1344Val) c.4162C>G (p.Leu1388Val) n.305C>G n.453C>G n.954C>G n.288C>G n.367C>G c.4027C>G (p.Leu1343Val) n.4323C>G | |
| 2 | g.71611528C>T | CA1706896 | DYSF | c.1537C>T (p.Leu513Phe) c.754C>T (p.Leu252Phe) c.712C>T (p.Leu238Phe) c.4069C>T (p.Leu1357Phe) c.4123C>T (p.Leu1375Phe) c.4072C>T (p.Leu1358Phe) c.4120C>T (p.Leu1374Phe) c.4165C>T (p.Leu1389Phe) c.4030C>T (p.Leu1344Phe) c.4162C>T (p.Leu1388Phe) n.305C>T n.453C>T n.954C>T n.288C>T n.367C>T c.4027C>T (p.Leu1343Phe) n.4323C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611529T>A | CA347228518 | DYSF | c.1538T>A (p.Leu513His) c.755T>A (p.Leu252His) c.713T>A (p.Leu238His) c.4070T>A (p.Leu1357His) c.4124T>A (p.Leu1375His) c.4073T>A (p.Leu1358His) c.4121T>A (p.Leu1374His) c.4166T>A (p.Leu1389His) c.4031T>A (p.Leu1344His) c.4163T>A (p.Leu1388His) n.306T>A n.454T>A n.955T>A n.289T>A n.368T>A c.4028T>A (p.Leu1343His) n.4324T>A | |
| 2 | g.71611529T>C | CA347228519 | DYSF | c.1538T>C (p.Leu513Pro) c.755T>C (p.Leu252Pro) c.713T>C (p.Leu238Pro) c.4070T>C (p.Leu1357Pro) c.4124T>C (p.Leu1375Pro) c.4073T>C (p.Leu1358Pro) c.4121T>C (p.Leu1374Pro) c.4166T>C (p.Leu1389Pro) c.4031T>C (p.Leu1344Pro) c.4163T>C (p.Leu1388Pro) n.306T>C n.454T>C n.955T>C n.289T>C n.368T>C c.4028T>C (p.Leu1343Pro) n.4324T>C | |
| 2 | g.71611529T>G | CA347228520 | DYSF | c.1538T>G (p.Leu513Arg) c.755T>G (p.Leu252Arg) c.713T>G (p.Leu238Arg) c.4070T>G (p.Leu1357Arg) c.4124T>G (p.Leu1375Arg) c.4073T>G (p.Leu1358Arg) c.4121T>G (p.Leu1374Arg) c.4166T>G (p.Leu1389Arg) c.4031T>G (p.Leu1344Arg) c.4163T>G (p.Leu1388Arg) n.306T>G n.454T>G n.955T>G n.289T>G n.368T>G c.4028T>G (p.Leu1343Arg) n.4324T>G | |
| 2 | g.71611530C>A | CA426758603 | DYSF | c.1539C>A (p.Leu513=) c.756C>A (p.Leu252=) c.714C>A (p.Leu238=) c.4071C>A (p.Leu1357=) c.4125C>A (p.Leu1375=) c.4074C>A (p.Leu1358=) c.4122C>A (p.Leu1374=) c.4167C>A (p.Leu1389=) c.4032C>A (p.Leu1344=) c.4164C>A (p.Leu1388=) n.307C>A n.455C>A n.956C>A n.290C>A n.369C>A c.4029C>A (p.Leu1343=) n.4325C>A | |
| 2 | g.71611530C= | CA1260124152 | DYSF | c.1539C= (p.Leu513=) c.756C= (p.Leu252=) c.714C= (p.Leu238=) c.4071C= (p.Leu1357=) c.4125C= (p.Leu1375=) c.4074C= (p.Leu1358=) c.4122C= (p.Leu1374=) c.4167C= (p.Leu1389=) c.4032C= (p.Leu1344=) c.4164C= (p.Leu1388=) n.307C= n.455C= n.956C= n.290C= n.369C= c.4029C= (p.Leu1343=) n.4325C= | |
| 2 | g.71611530C>G | CA426758604 | DYSF | c.1539C>G (p.Leu513=) c.756C>G (p.Leu252=) c.714C>G (p.Leu238=) c.4071C>G (p.Leu1357=) c.4125C>G (p.Leu1375=) c.4074C>G (p.Leu1358=) c.4122C>G (p.Leu1374=) c.4167C>G (p.Leu1389=) c.4032C>G (p.Leu1344=) c.4164C>G (p.Leu1388=) n.307C>G n.455C>G n.956C>G n.290C>G n.369C>G c.4029C>G (p.Leu1343=) n.4325C>G | gnomAD v3 gnomAD v4 |
| 2 | g.71611530C>T | CA1706897 | DYSF | c.1539C>T (p.Leu513=) c.756C>T (p.Leu252=) c.714C>T (p.Leu238=) c.4071C>T (p.Leu1357=) c.4125C>T (p.Leu1375=) c.4074C>T (p.Leu1358=) c.4122C>T (p.Leu1374=) c.4167C>T (p.Leu1389=) c.4032C>T (p.Leu1344=) c.4164C>T (p.Leu1388=) n.307C>T n.455C>T n.956C>T n.290C>T n.369C>T c.4029C>T (p.Leu1343=) n.4325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611531G>A | CA1706898 | DYSF | c.1540G>A (p.Val514Met) c.757G>A (p.Val253Met) c.715G>A (p.Val239Met) c.4072G>A (p.Val1358Met) c.4126G>A (p.Val1376Met) c.4075G>A (p.Val1359Met) c.4123G>A (p.Val1375Met) c.4168G>A (p.Val1390Met) c.4033G>A (p.Val1345Met) c.4165G>A (p.Val1389Met) n.308G>A n.456G>A n.957G>A n.291G>A n.370G>A c.4030G>A (p.Val1344Met) n.4326G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.71611531G>C | CA347228522 | DYSF | c.1540G>C (p.Val514Leu) c.757G>C (p.Val253Leu) c.715G>C (p.Val239Leu) c.4072G>C (p.Val1358Leu) c.4126G>C (p.Val1376Leu) c.4075G>C (p.Val1359Leu) c.4123G>C (p.Val1375Leu) c.4168G>C (p.Val1390Leu) c.4033G>C (p.Val1345Leu) c.4165G>C (p.Val1389Leu) n.308G>C n.456G>C n.957G>C n.291G>C n.370G>C c.4030G>C (p.Val1344Leu) n.4326G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71611531G= | CA1260124153 | DYSF | c.1540G= (p.Val514=) c.757G= (p.Val253=) c.715G= (p.Val239=) c.4072G= (p.Val1358=) c.4126G= (p.Val1376=) c.4075G= (p.Val1359=) c.4123G= (p.Val1375=) c.4168G= (p.Val1390=) c.4033G= (p.Val1345=) c.4165G= (p.Val1389=) n.308G= n.456G= n.957G= n.291G= n.370G= c.4030G= (p.Val1344=) n.4326G= | |
| 2 | g.71611531G>T | CA347228521 | DYSF | c.1540G>T (p.Val514Leu) c.757G>T (p.Val253Leu) c.715G>T (p.Val239Leu) c.4072G>T (p.Val1358Leu) c.4126G>T (p.Val1376Leu) c.4075G>T (p.Val1359Leu) c.4123G>T (p.Val1375Leu) c.4168G>T (p.Val1390Leu) c.4033G>T (p.Val1345Leu) c.4165G>T (p.Val1389Leu) n.308G>T n.456G>T n.957G>T n.291G>T n.370G>T c.4030G>T (p.Val1344Leu) n.4326G>T | |
| 2 | g.71611532T>A | CA347228523 | DYSF | c.1541T>A (p.Val514Glu) c.758T>A (p.Val253Glu) c.716T>A (p.Val239Glu) c.4073T>A (p.Val1358Glu) c.4127T>A (p.Val1376Glu) c.4076T>A (p.Val1359Glu) c.4124T>A (p.Val1375Glu) c.4169T>A (p.Val1390Glu) c.4034T>A (p.Val1345Glu) c.4166T>A (p.Val1389Glu) n.309T>A n.457T>A n.958T>A n.292T>A n.371T>A c.4031T>A (p.Val1344Glu) n.4327T>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.71611532T>C | CA347228524 | DYSF | c.1541T>C (p.Val514Ala) c.758T>C (p.Val253Ala) c.716T>C (p.Val239Ala) c.4073T>C (p.Val1358Ala) c.4127T>C (p.Val1376Ala) c.4076T>C (p.Val1359Ala) c.4124T>C (p.Val1375Ala) c.4169T>C (p.Val1390Ala) c.4034T>C (p.Val1345Ala) c.4166T>C (p.Val1389Ala) n.309T>C n.457T>C n.958T>C n.292T>C n.371T>C c.4031T>C (p.Val1344Ala) n.4327T>C | |
| 2 | g.71611532T>G | CA347228525 | DYSF | c.1541T>G (p.Val514Gly) c.758T>G (p.Val253Gly) c.716T>G (p.Val239Gly) c.4073T>G (p.Val1358Gly) c.4127T>G (p.Val1376Gly) c.4076T>G (p.Val1359Gly) c.4124T>G (p.Val1375Gly) c.4169T>G (p.Val1390Gly) c.4034T>G (p.Val1345Gly) c.4166T>G (p.Val1389Gly) n.309T>G n.457T>G n.958T>G n.292T>G n.371T>G c.4031T>G (p.Val1344Gly) n.4327T>G | |
| 2 | g.71611532T= | CA1260124154 | DYSF | c.1541T= (p.Val514=) c.758T= (p.Val253=) c.716T= (p.Val239=) c.4073T= (p.Val1358=) c.4127T= (p.Val1376=) c.4076T= (p.Val1359=) c.4124T= (p.Val1375=) c.4169T= (p.Val1390=) c.4034T= (p.Val1345=) c.4166T= (p.Val1389=) n.309T= n.457T= n.958T= n.292T= n.371T= c.4031T= (p.Val1344=) n.4327T= | |
| 2 | g.71611533G>A | CA426758608 | DYSF | c.1542G>A (p.Val514=) c.759G>A (p.Val253=) c.717G>A (p.Val239=) c.4074G>A (p.Val1358=) c.4128G>A (p.Val1376=) c.4077G>A (p.Val1359=) c.4125G>A (p.Val1375=) c.4170G>A (p.Val1390=) c.4035G>A (p.Val1345=) c.4167G>A (p.Val1389=) n.310G>A n.458G>A n.959G>A n.293G>A n.372G>A c.4032G>A (p.Val1344=) n.4328G>A | |
| 2 | g.71611533G>C | CA426758609 | DYSF | c.1542G>C (p.Val514=) c.759G>C (p.Val253=) c.717G>C (p.Val239=) c.4074G>C (p.Val1358=) c.4128G>C (p.Val1376=) c.4077G>C (p.Val1359=) c.4125G>C (p.Val1375=) c.4170G>C (p.Val1390=) c.4035G>C (p.Val1345=) c.4167G>C (p.Val1389=) n.310G>C n.458G>C n.959G>C n.293G>C n.372G>C c.4032G>C (p.Val1344=) n.4328G>C | |
| 2 | g.71611533G>T | CA426758606 | DYSF | c.1542G>T (p.Val514=) c.759G>T (p.Val253=) c.717G>T (p.Val239=) c.4074G>T (p.Val1358=) c.4128G>T (p.Val1376=) c.4077G>T (p.Val1359=) c.4125G>T (p.Val1375=) c.4170G>T (p.Val1390=) c.4035G>T (p.Val1345=) c.4167G>T (p.Val1389=) n.310G>T n.458G>T n.959G>T n.293G>T n.372G>T c.4032G>T (p.Val1344=) n.4328G>T | |
| 2 | g.71611534G>A | CA1706899 | DYSF | c.1543G>A (p.Val515Ile) c.760G>A (p.Val254Ile) c.718G>A (p.Val240Ile) c.4075G>A (p.Val1359Ile) c.4129G>A (p.Val1377Ile) c.4078G>A (p.Val1360Ile) c.4126G>A (p.Val1376Ile) c.4171G>A (p.Val1391Ile) c.4036G>A (p.Val1346Ile) c.4168G>A (p.Val1390Ile) n.311G>A n.459G>A n.960G>A n.294G>A n.373G>A c.4033G>A (p.Val1345Ile) n.4329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71611534G>C | CA347228526 | DYSF | c.1543G>C (p.Val515Leu) c.760G>C (p.Val254Leu) c.718G>C (p.Val240Leu) c.4075G>C (p.Val1359Leu) c.4129G>C (p.Val1377Leu) c.4078G>C (p.Val1360Leu) c.4126G>C (p.Val1376Leu) c.4171G>C (p.Val1391Leu) c.4036G>C (p.Val1346Leu) c.4168G>C (p.Val1390Leu) n.311G>C n.459G>C n.960G>C n.294G>C n.373G>C c.4033G>C (p.Val1345Leu) n.4329G>C | |
| 2 | g.71611534G= | CA1260124155 | DYSF | c.1543G= (p.Val515=) c.760G= (p.Val254=) c.718G= (p.Val240=) c.4075G= (p.Val1359=) c.4129G= (p.Val1377=) c.4078G= (p.Val1360=) c.4126G= (p.Val1376=) c.4171G= (p.Val1391=) c.4036G= (p.Val1346=) c.4168G= (p.Val1390=) n.311G= n.459G= n.960G= n.294G= n.373G= c.4033G= (p.Val1345=) n.4329G= | |
| 2 | g.71611534G>T | CA347228527 | DYSF | c.1543G>T (p.Val515Leu) c.760G>T (p.Val254Leu) c.718G>T (p.Val240Leu) c.4075G>T (p.Val1359Leu) c.4129G>T (p.Val1377Leu) c.4078G>T (p.Val1360Leu) c.4126G>T (p.Val1376Leu) c.4171G>T (p.Val1391Leu) c.4036G>T (p.Val1346Leu) c.4168G>T (p.Val1390Leu) n.311G>T n.459G>T n.960G>T n.294G>T n.373G>T c.4033G>T (p.Val1345Leu) n.4329G>T | dbSNP gnomAD v4 |
| 2 | g.71611535T>A | CA347228528 | DYSF | c.1544T>A (p.Val515Glu) c.761T>A (p.Val254Glu) c.719T>A (p.Val240Glu) c.4076T>A (p.Val1359Glu) c.4130T>A (p.Val1377Glu) c.4079T>A (p.Val1360Glu) c.4127T>A (p.Val1376Glu) c.4172T>A (p.Val1391Glu) c.4037T>A (p.Val1346Glu) c.4169T>A (p.Val1390Glu) n.312T>A n.460T>A n.961T>A n.295T>A n.374T>A c.4034T>A (p.Val1345Glu) n.4330T>A | |
| 2 | g.71611535T>C | CA347228529 | DYSF | c.1544T>C (p.Val515Ala) c.761T>C (p.Val254Ala) c.719T>C (p.Val240Ala) c.4076T>C (p.Val1359Ala) c.4130T>C (p.Val1377Ala) c.4079T>C (p.Val1360Ala) c.4127T>C (p.Val1376Ala) c.4172T>C (p.Val1391Ala) c.4037T>C (p.Val1346Ala) c.4169T>C (p.Val1390Ala) n.312T>C n.460T>C n.961T>C n.295T>C n.374T>C c.4034T>C (p.Val1345Ala) n.4330T>C | |
| 2 | g.71611535T>G | CA347228530 | DYSF | c.1544T>G (p.Val515Gly) c.761T>G (p.Val254Gly) c.719T>G (p.Val240Gly) c.4076T>G (p.Val1359Gly) c.4130T>G (p.Val1377Gly) c.4079T>G (p.Val1360Gly) c.4127T>G (p.Val1376Gly) c.4172T>G (p.Val1391Gly) c.4037T>G (p.Val1346Gly) c.4169T>G (p.Val1390Gly) n.312T>G n.460T>G n.961T>G n.295T>G n.374T>G c.4034T>G (p.Val1345Gly) n.4330T>G | |
| 2 | g.71611536A>C | CA426758615 | DYSF | c.1545A>C (p.Val515=) c.762A>C (p.Val254=) c.720A>C (p.Val240=) c.4077A>C (p.Val1359=) c.4131A>C (p.Val1377=) c.4080A>C (p.Val1360=) c.4128A>C (p.Val1376=) c.4173A>C (p.Val1391=) c.4038A>C (p.Val1346=) c.4170A>C (p.Val1390=) n.313A>C n.461A>C n.962A>C n.296A>C n.375A>C c.4035A>C (p.Val1345=) n.4331A>C | |
| 2 | g.71611536A>G | CA426758614 | DYSF | c.1545A>G (p.Val515=) c.762A>G (p.Val254=) c.720A>G (p.Val240=) c.4077A>G (p.Val1359=) c.4131A>G (p.Val1377=) c.4080A>G (p.Val1360=) c.4128A>G (p.Val1376=) c.4173A>G (p.Val1391=) c.4038A>G (p.Val1346=) c.4170A>G (p.Val1390=) n.313A>G n.461A>G n.962A>G n.296A>G n.375A>G c.4035A>G (p.Val1345=) n.4331A>G | |
| 2 | g.71611536A>T | CA426758613 | DYSF | c.1545A>T (p.Val515=) c.762A>T (p.Val254=) c.720A>T (p.Val240=) c.4077A>T (p.Val1359=) c.4131A>T (p.Val1377=) c.4080A>T (p.Val1360=) c.4128A>T (p.Val1376=) c.4173A>T (p.Val1391=) c.4038A>T (p.Val1346=) c.4170A>T (p.Val1390=) n.313A>T n.461A>T n.962A>T n.296A>T n.375A>T c.4035A>T (p.Val1345=) n.4331A>T | |
| 2 | g.71611537G>A | CA347228531 | DYSF | c.1546G>A (p.Glu516Lys) c.763G>A (p.Glu255Lys) c.721G>A (p.Glu241Lys) c.4078G>A (p.Glu1360Lys) c.4132G>A (p.Glu1378Lys) c.4081G>A (p.Glu1361Lys) c.4129G>A (p.Glu1377Lys) c.4174G>A (p.Glu1392Lys) c.4039G>A (p.Glu1347Lys) c.4171G>A (p.Glu1391Lys) n.314G>A n.462G>A n.963G>A n.297G>A n.376G>A c.4036G>A (p.Glu1346Lys) n.4332G>A | gnomAD v4 |
| 2 | g.71611537G>C | CA347228532 | DYSF | c.1546G>C (p.Glu516Gln) c.763G>C (p.Glu255Gln) c.721G>C (p.Glu241Gln) c.4078G>C (p.Glu1360Gln) c.4132G>C (p.Glu1378Gln) c.4081G>C (p.Glu1361Gln) c.4129G>C (p.Glu1377Gln) c.4174G>C (p.Glu1392Gln) c.4039G>C (p.Glu1347Gln) c.4171G>C (p.Glu1391Gln) n.314G>C n.462G>C n.963G>C n.297G>C n.376G>C c.4036G>C (p.Glu1346Gln) n.4332G>C | |
| 2 | g.71611537G>T | CA347228533 | DYSF | c.1546G>T (p.Glu516Ter) c.763G>T (p.Glu255Ter) c.721G>T (p.Glu241Ter) c.4078G>T (p.Glu1360Ter) c.4132G>T (p.Glu1378Ter) c.4081G>T (p.Glu1361Ter) c.4129G>T (p.Glu1377Ter) c.4174G>T (p.Glu1392Ter) c.4039G>T (p.Glu1347Ter) c.4171G>T (p.Glu1391Ter) n.314G>T n.462G>T n.963G>T n.297G>T n.376G>T c.4036G>T (p.Glu1346Ter) n.4332G>T | |
| 2 | g.71611538A>C | CA347228535 | DYSF | c.1547A>C (p.Glu516Ala) c.764A>C (p.Glu255Ala) c.722A>C (p.Glu241Ala) c.4079A>C (p.Glu1360Ala) c.4133A>C (p.Glu1378Ala) c.4082A>C (p.Glu1361Ala) c.4130A>C (p.Glu1377Ala) c.4175A>C (p.Glu1392Ala) c.4040A>C (p.Glu1347Ala) c.4172A>C (p.Glu1391Ala) n.315A>C n.463A>C n.964A>C n.298A>C n.377A>C c.4037A>C (p.Glu1346Ala) n.4333A>C | gnomAD v4 |
| 2 | g.71611538A>G | CA347228536 | DYSF | c.1547A>G (p.Glu516Gly) c.764A>G (p.Glu255Gly) c.722A>G (p.Glu241Gly) c.4079A>G (p.Glu1360Gly) c.4133A>G (p.Glu1378Gly) c.4082A>G (p.Glu1361Gly) c.4130A>G (p.Glu1377Gly) c.4175A>G (p.Glu1392Gly) c.4040A>G (p.Glu1347Gly) c.4172A>G (p.Glu1391Gly) n.315A>G n.463A>G n.964A>G n.298A>G n.377A>G c.4037A>G (p.Glu1346Gly) n.4333A>G | |
| 2 | g.71611538A>T | CA347228534 | DYSF | c.1547A>T (p.Glu516Val) c.764A>T (p.Glu255Val) c.722A>T (p.Glu241Val) c.4079A>T (p.Glu1360Val) c.4133A>T (p.Glu1378Val) c.4082A>T (p.Glu1361Val) c.4130A>T (p.Glu1377Val) c.4175A>T (p.Glu1392Val) c.4040A>T (p.Glu1347Val) c.4172A>T (p.Glu1391Val) n.315A>T n.463A>T n.964A>T n.298A>T n.377A>T c.4037A>T (p.Glu1346Val) n.4333A>T | |
| 2 | g.71611539G>A | CA426758640 | DYSF | c.1548G>A (p.Glu516=) c.765G>A (p.Glu255=) c.723G>A (p.Glu241=) c.4080G>A (p.Glu1360=) c.4134G>A (p.Glu1378=) c.4083G>A (p.Glu1361=) c.4131G>A (p.Glu1377=) c.4176G>A (p.Glu1392=) c.4041G>A (p.Glu1347=) c.4173G>A (p.Glu1391=) n.316G>A n.464G>A n.965G>A n.299G>A n.378G>A c.4038G>A (p.Glu1346=) n.4334G>A | gnomAD v4 |
| 2 | g.71611539G>C | CA347228537 | DYSF | c.1548G>C (p.Glu516Asp) c.765G>C (p.Glu255Asp) c.723G>C (p.Glu241Asp) c.4080G>C (p.Glu1360Asp) c.4134G>C (p.Glu1378Asp) c.4083G>C (p.Glu1361Asp) c.4131G>C (p.Glu1377Asp) c.4176G>C (p.Glu1392Asp) c.4041G>C (p.Glu1347Asp) c.4173G>C (p.Glu1391Asp) n.316G>C n.464G>C n.965G>C n.299G>C n.378G>C c.4038G>C (p.Glu1346Asp) n.4334G>C | |
| 2 | g.71611539G>T | CA347228538 | DYSF | c.1548G>T (p.Glu516Asp) c.765G>T (p.Glu255Asp) c.723G>T (p.Glu241Asp) c.4080G>T (p.Glu1360Asp) c.4134G>T (p.Glu1378Asp) c.4083G>T (p.Glu1361Asp) c.4131G>T (p.Glu1377Asp) c.4176G>T (p.Glu1392Asp) c.4041G>T (p.Glu1347Asp) c.4173G>T (p.Glu1391Asp) n.316G>T n.464G>T n.965G>T n.299G>T n.378G>T c.4038G>T (p.Glu1346Asp) n.4334G>T | |
| 2 | g.71611540T>A | CA347228539 | DYSF | c.1549T>A (p.Cys517Ser) c.766T>A (p.Cys256Ser) c.724T>A (p.Cys242Ser) c.4081T>A (p.Cys1361Ser) c.4135T>A (p.Cys1379Ser) c.4084T>A (p.Cys1362Ser) c.4132T>A (p.Cys1378Ser) c.4177T>A (p.Cys1393Ser) c.4042T>A (p.Cys1348Ser) c.4174T>A (p.Cys1392Ser) n.317T>A n.465T>A n.966T>A n.300T>A n.379T>A c.4039T>A (p.Cys1347Ser) n.4335T>A | |
| 2 | g.71611540T>C | CA1706900 | DYSF | c.1549T>C (p.Cys517Arg) c.766T>C (p.Cys256Arg) c.724T>C (p.Cys242Arg) c.4081T>C (p.Cys1361Arg) c.4135T>C (p.Cys1379Arg) c.4084T>C (p.Cys1362Arg) c.4132T>C (p.Cys1378Arg) c.4177T>C (p.Cys1393Arg) c.4042T>C (p.Cys1348Arg) c.4174T>C (p.Cys1392Arg) n.317T>C n.465T>C n.966T>C n.300T>C n.379T>C c.4039T>C (p.Cys1347Arg) n.4335T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71611540T>G | CA347228540 | DYSF | c.1549T>G (p.Cys517Gly) c.766T>G (p.Cys256Gly) c.724T>G (p.Cys242Gly) c.4081T>G (p.Cys1361Gly) c.4135T>G (p.Cys1379Gly) c.4084T>G (p.Cys1362Gly) c.4132T>G (p.Cys1378Gly) c.4177T>G (p.Cys1393Gly) c.4042T>G (p.Cys1348Gly) c.4174T>G (p.Cys1392Gly) n.317T>G n.465T>G n.966T>G n.300T>G n.379T>G c.4039T>G (p.Cys1347Gly) n.4335T>G | gnomAD v4 |
| 2 | g.71611540T= | CA1260124156 | DYSF | c.1549T= (p.Cys517=) c.766T= (p.Cys256=) c.724T= (p.Cys242=) c.4081T= (p.Cys1361=) c.4135T= (p.Cys1379=) c.4084T= (p.Cys1362=) c.4132T= (p.Cys1378=) c.4177T= (p.Cys1393=) c.4042T= (p.Cys1348=) c.4174T= (p.Cys1392=) n.317T= n.465T= n.966T= n.300T= n.379T= c.4039T= (p.Cys1347=) n.4335T= | |
| 2 | g.71611541G>A | CA347228543 | DYSF | c.1550G>A (p.Cys517Tyr) c.767G>A (p.Cys256Tyr) c.725G>A (p.Cys242Tyr) c.4082G>A (p.Cys1361Tyr) c.4136G>A (p.Cys1379Tyr) c.4085G>A (p.Cys1362Tyr) c.4133G>A (p.Cys1378Tyr) c.4178G>A (p.Cys1393Tyr) c.4043G>A (p.Cys1348Tyr) c.4175G>A (p.Cys1392Tyr) n.318G>A n.466G>A n.967G>A n.301G>A n.380G>A c.4040G>A (p.Cys1347Tyr) n.4336G>A | gnomAD v4 |