Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71611530C>ACA426758603DYSFc.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
2g.71611530C=CA1260124152DYSFc.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=
2g.71611530C>GCA426758604DYSFc.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
2g.71611530C>TCA1706897DYSFc.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
2g.71611531G>ACA1706898DYSFc.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
2g.71611531G>CCA347228522DYSFc.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
2g.71611531G=CA1260124153DYSFc.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=
2g.71611531G>TCA347228521DYSFc.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
2g.71611532T>ACA347228523DYSFc.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
2g.71611532T>CCA347228524DYSFc.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
2g.71611532T>GCA347228525DYSFc.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
2g.71611532T=CA1260124154DYSFc.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=
2g.71611533G>ACA426758608DYSFc.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
2g.71611533G>CCA426758609DYSFc.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
2g.71611533G>TCA426758606DYSFc.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
2g.71611534G>ACA1706899DYSFc.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
2g.71611534G>CCA347228526DYSFc.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
2g.71611534G=CA1260124155DYSFc.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=
2g.71611534G>TCA347228527DYSFc.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
2g.71611535T>ACA347228528DYSFc.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
2g.71611535T>CCA347228529DYSFc.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
2g.71611535T>GCA347228530DYSFc.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
2g.71611536A>CCA426758615DYSFc.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
2g.71611536A>GCA426758614DYSFc.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
2g.71611536A>TCA426758613DYSFc.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
2g.71611537G>ACA347228531DYSFc.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
2g.71611537G>CCA347228532DYSFc.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
2g.71611537G>TCA347228533DYSFc.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
2g.71611538A>CCA347228535DYSFc.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
2g.71611538A>GCA347228536DYSFc.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
2g.71611538A>TCA347228534DYSFc.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
2g.71611539G>ACA426758640DYSFc.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
2g.71611539G>CCA347228537DYSFc.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
2g.71611539G>TCA347228538DYSFc.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
2g.71611540T>ACA347228539DYSFc.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
2g.71611540T>CCA1706900DYSFc.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
2g.71611540T>GCA347228540DYSFc.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
2g.71611540T=CA1260124156DYSFc.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=
2g.71611541G>ACA347228543DYSFc.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
2g.71611541G>CCA347228541DYSFc.1550G>C (p.Cys517Ser)
c.767G>C (p.Cys256Ser)
c.725G>C (p.Cys242Ser)
c.4082G>C (p.Cys1361Ser)
c.4136G>C (p.Cys1379Ser)
c.4085G>C (p.Cys1362Ser)
c.4133G>C (p.Cys1378Ser)
c.4178G>C (p.Cys1393Ser)
c.4043G>C (p.Cys1348Ser)
c.4175G>C (p.Cys1392Ser)
n.318G>C
n.466G>C
n.967G>C
n.301G>C
n.380G>C
c.4040G>C (p.Cys1347Ser)
n.4336G>C
2g.71611541G>TCA347228542DYSFc.1550G>T (p.Cys517Phe)
c.767G>T (p.Cys256Phe)
c.725G>T (p.Cys242Phe)
c.4082G>T (p.Cys1361Phe)
c.4136G>T (p.Cys1379Phe)
c.4085G>T (p.Cys1362Phe)
c.4133G>T (p.Cys1378Phe)
c.4178G>T (p.Cys1393Phe)
c.4043G>T (p.Cys1348Phe)
c.4175G>T (p.Cys1392Phe)
n.318G>T
n.466G>T
n.967G>T
n.301G>T
n.380G>T
c.4040G>T (p.Cys1347Phe)
n.4336G>T
2g.71611542delCA658820650DYSFc.1551del (p.Cys517TrpfsTer29)
c.768del (p.Cys256TrpfsTer29)
c.726del (p.Cys242TrpfsTer29)
c.4083del (p.Cys1361TrpfsTer29)
c.4137del (p.Cys1379TrpfsTer29)
c.4086del (p.Cys1362TrpfsTer29)
c.4134del (p.Cys1378TrpfsTer29)
c.4179del (p.Cys1393TrpfsTer29)
c.4044del (p.Cys1348TrpfsTer29)
c.4176del (p.Cys1392TrpfsTer29)
n.319del
n.467del
n.968del
n.302del
n.381del
c.4041del (p.Cys1347TrpfsTer29)
n.4337del
2g.71611542T>ACA347228544DYSFc.1551T>A (p.Cys517Ter)
c.768T>A (p.Cys256Ter)
c.726T>A (p.Cys242Ter)
c.4083T>A (p.Cys1361Ter)
c.4137T>A (p.Cys1379Ter)
c.4086T>A (p.Cys1362Ter)
c.4134T>A (p.Cys1378Ter)
c.4179T>A (p.Cys1393Ter)
c.4044T>A (p.Cys1348Ter)
c.4176T>A (p.Cys1392Ter)
n.319T>A
n.467T>A
n.968T>A
n.302T>A
n.381T>A
c.4041T>A (p.Cys1347Ter)
n.4337T>A
2g.71611542T>CCA426758647DYSFc.1551T>C (p.Cys517=)
c.768T>C (p.Cys256=)
c.726T>C (p.Cys242=)
c.4083T>C (p.Cys1361=)
c.4137T>C (p.Cys1379=)
c.4086T>C (p.Cys1362=)
c.4134T>C (p.Cys1378=)
c.4179T>C (p.Cys1393=)
c.4044T>C (p.Cys1348=)
c.4176T>C (p.Cys1392=)
n.319T>C
n.467T>C
n.968T>C
n.302T>C
n.381T>C
c.4041T>C (p.Cys1347=)
n.4337T>C
 gnomAD v4
2g.71611542T>GCA1706901DYSFc.1551T>G (p.Cys517Trp)
c.768T>G (p.Cys256Trp)
c.726T>G (p.Cys242Trp)
c.4083T>G (p.Cys1361Trp)
c.4137T>G (p.Cys1379Trp)
c.4086T>G (p.Cys1362Trp)
c.4134T>G (p.Cys1378Trp)
c.4179T>G (p.Cys1393Trp)
c.4044T>G (p.Cys1348Trp)
c.4176T>G (p.Cys1392Trp)
n.319T>G
n.467T>G
n.968T>G
n.302T>G
n.381T>G
c.4041T>G (p.Cys1347Trp)
n.4337T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611542T=CA1260124157DYSFc.1551T= (p.Cys517=)
c.768T= (p.Cys256=)
c.726T= (p.Cys242=)
c.4083T= (p.Cys1361=)
c.4137T= (p.Cys1379=)
c.4086T= (p.Cys1362=)
c.4134T= (p.Cys1378=)
c.4179T= (p.Cys1393=)
c.4044T= (p.Cys1348=)
c.4176T= (p.Cys1392=)
n.319T=
n.467T=
n.968T=
n.302T=
n.381T=
c.4041T= (p.Cys1347=)
n.4337T=
2g.71611542dupCA2750416525DYSFc.1551dup (p.Gly518TrpfsTer20)
c.768dup (p.Gly257TrpfsTer20)
c.726dup (p.Gly243TrpfsTer20)
c.4083dup (p.Gly1362TrpfsTer20)
c.4137dup (p.Gly1380TrpfsTer20)
c.4086dup (p.Gly1363TrpfsTer20)
c.4134dup (p.Gly1379TrpfsTer20)
c.4179dup (p.Gly1394TrpfsTer20)
c.4044dup (p.Gly1349TrpfsTer20)
c.4176dup (p.Gly1393TrpfsTer20)
n.319dup
n.467dup
n.968dup
n.302dup
n.381dup
c.4041dup (p.Gly1348TrpfsTer20)
n.4337dup
2g.71611543G>ACA347228545DYSFc.1552G>A (p.Gly518Arg)
c.769G>A (p.Gly257Arg)
c.727G>A (p.Gly243Arg)
c.4084G>A (p.Gly1362Arg)
c.4138G>A (p.Gly1380Arg)
c.4087G>A (p.Gly1363Arg)
c.4135G>A (p.Gly1379Arg)
c.4180G>A (p.Gly1394Arg)
c.4045G>A (p.Gly1349Arg)
c.4177G>A (p.Gly1393Arg)
n.320G>A
n.468G>A
n.969G>A
n.303G>A
n.382G>A
c.4042G>A (p.Gly1348Arg)
n.4338G>A
 gnomAD v4
2g.71611543G>CCA347228546DYSFc.1552G>C (p.Gly518Arg)
c.769G>C (p.Gly257Arg)
c.727G>C (p.Gly243Arg)
c.4084G>C (p.Gly1362Arg)
c.4138G>C (p.Gly1380Arg)
c.4087G>C (p.Gly1363Arg)
c.4135G>C (p.Gly1379Arg)
c.4180G>C (p.Gly1394Arg)
c.4045G>C (p.Gly1349Arg)
c.4177G>C (p.Gly1393Arg)
n.320G>C
n.468G>C
n.969G>C
n.303G>C
n.382G>C
c.4042G>C (p.Gly1348Arg)
n.4338G>C
 dbSNP gnomAD v2
2g.71611543G=CA1260124158DYSFc.1552G= (p.Gly518=)
c.769G= (p.Gly257=)
c.727G= (p.Gly243=)
c.4084G= (p.Gly1362=)
c.4138G= (p.Gly1380=)
c.4087G= (p.Gly1363=)
c.4135G= (p.Gly1379=)
c.4180G= (p.Gly1394=)
c.4045G= (p.Gly1349=)
c.4177G= (p.Gly1393=)
n.320G=
n.468G=
n.969G=
n.303G=
n.382G=
c.4042G= (p.Gly1348=)
n.4338G=

Number of alleles fetched