Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
2g.71611543G>TCA347228547DYSFc.1552G>T (p.Gly518Trp)
c.769G>T (p.Gly257Trp)
c.727G>T (p.Gly243Trp)
c.4084G>T (p.Gly1362Trp)
c.4138G>T (p.Gly1380Trp)
c.4087G>T (p.Gly1363Trp)
c.4135G>T (p.Gly1379Trp)
c.4180G>T (p.Gly1394Trp)
c.4045G>T (p.Gly1349Trp)
c.4177G>T (p.Gly1393Trp)
n.320G>T
n.468G>T
n.969G>T
n.303G>T
n.382G>T
c.4042G>T (p.Gly1348Trp)
n.4338G>T
2g.71611547dupCA2740095629DYSFc.1556dup (p.Gln520ProfsTer18)
c.773dup (p.Gln259ProfsTer18)
c.731dup (p.Gln245ProfsTer18)
c.4088dup (p.Gln1364ProfsTer18)
c.4142dup (p.Gln1382ProfsTer18)
c.4091dup (p.Gln1365ProfsTer18)
c.4139dup (p.Gln1381ProfsTer18)
c.4184dup (p.Gln1396ProfsTer18)
c.4049dup (p.Gln1351ProfsTer18)
c.4181dup (p.Gln1395ProfsTer18)
n.324dup
n.472dup
n.973dup
n.307dup
n.386dup
c.4046dup (p.Gln1350ProfsTer18)
n.4342dup
 ClinVar
2g.71611546_71611547delCA2697548250DYSFc.1555_1556del (p.Gly519ProfsTer18)
c.772_773del (p.Gly258ProfsTer18)
c.730_731del (p.Gly244ProfsTer18)
c.4087_4088del (p.Gly1363ProfsTer18)
c.4141_4142del (p.Gly1381ProfsTer18)
c.4090_4091del (p.Gly1364ProfsTer18)
c.4138_4139del (p.Gly1380ProfsTer18)
c.4183_4184del (p.Gly1395ProfsTer18)
c.4048_4049del (p.Gly1350ProfsTer18)
c.4180_4181del (p.Gly1394ProfsTer18)
n.323_324del
n.471_472del
n.972_973del
n.306_307del
n.385_386del
c.4045_4046del (p.Gly1349ProfsTer18)
n.4341_4342del
 ClinVar
2g.71611544G>ACA347228550DYSFc.1553G>A (p.Gly518Glu)
c.770G>A (p.Gly257Glu)
c.728G>A (p.Gly243Glu)
c.4085G>A (p.Gly1362Glu)
c.4139G>A (p.Gly1380Glu)
c.4088G>A (p.Gly1363Glu)
c.4136G>A (p.Gly1379Glu)
c.4181G>A (p.Gly1394Glu)
c.4046G>A (p.Gly1349Glu)
c.4178G>A (p.Gly1393Glu)
n.321G>A
n.469G>A
n.970G>A
n.304G>A
n.383G>A
c.4043G>A (p.Gly1348Glu)
n.4339G>A
2g.71611544G>CCA347228549DYSFc.1553G>C (p.Gly518Ala)
c.770G>C (p.Gly257Ala)
c.728G>C (p.Gly243Ala)
c.4085G>C (p.Gly1362Ala)
c.4139G>C (p.Gly1380Ala)
c.4088G>C (p.Gly1363Ala)
c.4136G>C (p.Gly1379Ala)
c.4181G>C (p.Gly1394Ala)
c.4046G>C (p.Gly1349Ala)
c.4178G>C (p.Gly1393Ala)
n.321G>C
n.469G>C
n.970G>C
n.304G>C
n.383G>C
c.4043G>C (p.Gly1348Ala)
n.4339G>C
2g.71611544G>TCA347228548DYSFc.1553G>T (p.Gly518Val)
c.770G>T (p.Gly257Val)
c.728G>T (p.Gly243Val)
c.4085G>T (p.Gly1362Val)
c.4139G>T (p.Gly1380Val)
c.4088G>T (p.Gly1363Val)
c.4136G>T (p.Gly1379Val)
c.4181G>T (p.Gly1394Val)
c.4046G>T (p.Gly1349Val)
c.4178G>T (p.Gly1393Val)
n.321G>T
n.469G>T
n.970G>T
n.304G>T
n.383G>T
c.4043G>T (p.Gly1348Val)
n.4339G>T
2g.71611545G>ACA426758653DYSFc.1554G>A (p.Gly518=)
c.771G>A (p.Gly257=)
c.729G>A (p.Gly243=)
c.4086G>A (p.Gly1362=)
c.4140G>A (p.Gly1380=)
c.4089G>A (p.Gly1363=)
c.4137G>A (p.Gly1379=)
c.4182G>A (p.Gly1394=)
c.4047G>A (p.Gly1349=)
c.4179G>A (p.Gly1393=)
n.322G>A
n.470G>A
n.971G>A
n.305G>A
n.384G>A
c.4044G>A (p.Gly1348=)
n.4340G>A
2g.71611545G>CCA426758655DYSFc.1554G>C (p.Gly518=)
c.771G>C (p.Gly257=)
c.729G>C (p.Gly243=)
c.4086G>C (p.Gly1362=)
c.4140G>C (p.Gly1380=)
c.4089G>C (p.Gly1363=)
c.4137G>C (p.Gly1379=)
c.4182G>C (p.Gly1394=)
c.4047G>C (p.Gly1349=)
c.4179G>C (p.Gly1393=)
n.322G>C
n.470G>C
n.971G>C
n.305G>C
n.384G>C
c.4044G>C (p.Gly1348=)
n.4340G>C
2g.71611545G>TCA426758657DYSFc.1554G>T (p.Gly518=)
c.771G>T (p.Gly257=)
c.729G>T (p.Gly243=)
c.4086G>T (p.Gly1362=)
c.4140G>T (p.Gly1380=)
c.4089G>T (p.Gly1363=)
c.4137G>T (p.Gly1379=)
c.4182G>T (p.Gly1394=)
c.4047G>T (p.Gly1349=)
c.4179G>T (p.Gly1393=)
n.322G>T
n.470G>T
n.971G>T
n.305G>T
n.384G>T
c.4044G>T (p.Gly1348=)
n.4340G>T
2g.71611546G>ACA347228551DYSFc.1555G>A (p.Gly519Ser)
c.772G>A (p.Gly258Ser)
c.730G>A (p.Gly244Ser)
c.4087G>A (p.Gly1363Ser)
c.4141G>A (p.Gly1381Ser)
c.4090G>A (p.Gly1364Ser)
c.4138G>A (p.Gly1380Ser)
c.4183G>A (p.Gly1395Ser)
c.4048G>A (p.Gly1350Ser)
c.4180G>A (p.Gly1394Ser)
n.323G>A
n.471G>A
n.972G>A
n.306G>A
n.385G>A
c.4045G>A (p.Gly1349Ser)
n.4341G>A
2g.71611546G>CCA347228553DYSFc.1555G>C (p.Gly519Arg)
c.772G>C (p.Gly258Arg)
c.730G>C (p.Gly244Arg)
c.4087G>C (p.Gly1363Arg)
c.4141G>C (p.Gly1381Arg)
c.4090G>C (p.Gly1364Arg)
c.4138G>C (p.Gly1380Arg)
c.4183G>C (p.Gly1395Arg)
c.4048G>C (p.Gly1350Arg)
c.4180G>C (p.Gly1394Arg)
n.323G>C
n.471G>C
n.972G>C
n.306G>C
n.385G>C
c.4045G>C (p.Gly1349Arg)
n.4341G>C
2g.71611546G>TCA347228552DYSFc.1555G>T (p.Gly519Cys)
c.772G>T (p.Gly258Cys)
c.730G>T (p.Gly244Cys)
c.4087G>T (p.Gly1363Cys)
c.4141G>T (p.Gly1381Cys)
c.4090G>T (p.Gly1364Cys)
c.4138G>T (p.Gly1380Cys)
c.4183G>T (p.Gly1395Cys)
c.4048G>T (p.Gly1350Cys)
c.4180G>T (p.Gly1394Cys)
n.323G>T
n.471G>T
n.972G>T
n.306G>T
n.385G>T
c.4045G>T (p.Gly1349Cys)
n.4341G>T
2g.71611547G>ACA347228554DYSFc.1556G>A (p.Gly519Asp)
c.773G>A (p.Gly258Asp)
c.731G>A (p.Gly244Asp)
c.4088G>A (p.Gly1363Asp)
c.4142G>A (p.Gly1381Asp)
c.4091G>A (p.Gly1364Asp)
c.4139G>A (p.Gly1380Asp)
c.4184G>A (p.Gly1395Asp)
c.4049G>A (p.Gly1350Asp)
c.4181G>A (p.Gly1394Asp)
n.324G>A
n.472G>A
n.973G>A
n.307G>A
n.386G>A
c.4046G>A (p.Gly1349Asp)
n.4342G>A
2g.71611547G>CCA1706902DYSFc.1556G>C (p.Gly519Ala)
c.773G>C (p.Gly258Ala)
c.731G>C (p.Gly244Ala)
c.4088G>C (p.Gly1363Ala)
c.4142G>C (p.Gly1381Ala)
c.4091G>C (p.Gly1364Ala)
c.4139G>C (p.Gly1380Ala)
c.4184G>C (p.Gly1395Ala)
c.4049G>C (p.Gly1350Ala)
c.4181G>C (p.Gly1394Ala)
n.324G>C
n.472G>C
n.973G>C
n.307G>C
n.386G>C
c.4046G>C (p.Gly1349Ala)
n.4342G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611547G=CA1260124159DYSFc.1556G= (p.Gly519=)
c.773G= (p.Gly258=)
c.731G= (p.Gly244=)
c.4088G= (p.Gly1363=)
c.4142G= (p.Gly1381=)
c.4091G= (p.Gly1364=)
c.4139G= (p.Gly1380=)
c.4184G= (p.Gly1395=)
c.4049G= (p.Gly1350=)
c.4181G= (p.Gly1394=)
n.324G=
n.472G=
n.973G=
n.307G=
n.386G=
c.4046G= (p.Gly1349=)
n.4342G=
2g.71611547G>TCA347228555DYSFc.1556G>T (p.Gly519Val)
c.773G>T (p.Gly258Val)
c.731G>T (p.Gly244Val)
c.4088G>T (p.Gly1363Val)
c.4142G>T (p.Gly1381Val)
c.4091G>T (p.Gly1364Val)
c.4139G>T (p.Gly1380Val)
c.4184G>T (p.Gly1395Val)
c.4049G>T (p.Gly1350Val)
c.4181G>T (p.Gly1394Val)
n.324G>T
n.472G>T
n.973G>T
n.307G>T
n.386G>T
c.4046G>T (p.Gly1349Val)
n.4342G>T
2g.71611548C>ACA426758659DYSFc.1557C>A (p.Gly519=)
c.774C>A (p.Gly258=)
c.732C>A (p.Gly244=)
c.4089C>A (p.Gly1363=)
c.4143C>A (p.Gly1381=)
c.4092C>A (p.Gly1364=)
c.4140C>A (p.Gly1380=)
c.4185C>A (p.Gly1395=)
c.4050C>A (p.Gly1350=)
c.4182C>A (p.Gly1394=)
n.325C>A
n.473C>A
n.974C>A
n.308C>A
n.387C>A
c.4047C>A (p.Gly1349=)
n.4343C>A
2g.71611548C=CA1260124160DYSFc.1557C= (p.Gly519=)
c.774C= (p.Gly258=)
c.732C= (p.Gly244=)
c.4089C= (p.Gly1363=)
c.4143C= (p.Gly1381=)
c.4092C= (p.Gly1364=)
c.4140C= (p.Gly1380=)
c.4185C= (p.Gly1395=)
c.4050C= (p.Gly1350=)
c.4182C= (p.Gly1394=)
n.325C=
n.473C=
n.974C=
n.308C=
n.387C=
c.4047C= (p.Gly1349=)
n.4343C=
2g.71611548C>GCA426758664DYSFc.1557C>G (p.Gly519=)
c.774C>G (p.Gly258=)
c.732C>G (p.Gly244=)
c.4089C>G (p.Gly1363=)
c.4143C>G (p.Gly1381=)
c.4092C>G (p.Gly1364=)
c.4140C>G (p.Gly1380=)
c.4185C>G (p.Gly1395=)
c.4050C>G (p.Gly1350=)
c.4182C>G (p.Gly1394=)
n.325C>G
n.473C>G
n.974C>G
n.308C>G
n.387C>G
c.4047C>G (p.Gly1349=)
n.4343C>G
2g.71611548C>TCA1706903DYSFc.1557C>T (p.Gly519=)
c.774C>T (p.Gly258=)
c.732C>T (p.Gly244=)
c.4089C>T (p.Gly1363=)
c.4143C>T (p.Gly1381=)
c.4092C>T (p.Gly1364=)
c.4140C>T (p.Gly1380=)
c.4185C>T (p.Gly1395=)
c.4050C>T (p.Gly1350=)
c.4182C>T (p.Gly1394=)
n.325C>T
n.473C>T
n.974C>T
n.308C>T
n.387C>T
c.4047C>T (p.Gly1349=)
n.4343C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611549C>ACA347228556DYSFc.1558C>A (p.Gln520Lys)
c.775C>A (p.Gln259Lys)
c.733C>A (p.Gln245Lys)
c.4090C>A (p.Gln1364Lys)
c.4144C>A (p.Gln1382Lys)
c.4093C>A (p.Gln1365Lys)
c.4141C>A (p.Gln1381Lys)
c.4186C>A (p.Gln1396Lys)
c.4051C>A (p.Gln1351Lys)
c.4183C>A (p.Gln1395Lys)
n.326C>A
n.474C>A
n.975C>A
n.309C>A
n.388C>A
c.4048C>A (p.Gln1350Lys)
n.4344C>A
2g.71611549C=CA1260124161DYSFc.1558C= (p.Gln520=)
c.775C= (p.Gln259=)
c.733C= (p.Gln245=)
c.4090C= (p.Gln1364=)
c.4144C= (p.Gln1382=)
c.4093C= (p.Gln1365=)
c.4141C= (p.Gln1381=)
c.4186C= (p.Gln1396=)
c.4051C= (p.Gln1351=)
c.4183C= (p.Gln1395=)
n.326C=
n.474C=
n.975C=
n.309C=
n.388C=
c.4048C= (p.Gln1350=)
n.4344C=
2g.71611549C>GCA347228557DYSFc.1558C>G (p.Gln520Glu)
c.775C>G (p.Gln259Glu)
c.733C>G (p.Gln245Glu)
c.4090C>G (p.Gln1364Glu)
c.4144C>G (p.Gln1382Glu)
c.4093C>G (p.Gln1365Glu)
c.4141C>G (p.Gln1381Glu)
c.4186C>G (p.Gln1396Glu)
c.4051C>G (p.Gln1351Glu)
c.4183C>G (p.Gln1395Glu)
n.326C>G
n.474C>G
n.975C>G
n.309C>G
n.388C>G
c.4048C>G (p.Gln1350Glu)
n.4344C>G
2g.71611549C>TCA10603803DYSFc.1558C>T (p.Gln520Ter)
c.775C>T (p.Gln259Ter)
c.733C>T (p.Gln245Ter)
c.4090C>T (p.Gln1364Ter)
c.4144C>T (p.Gln1382Ter)
c.4093C>T (p.Gln1365Ter)
c.4141C>T (p.Gln1381Ter)
c.4186C>T (p.Gln1396Ter)
c.4051C>T (p.Gln1351Ter)
c.4183C>T (p.Gln1395Ter)
n.326C>T
n.474C>T
n.975C>T
n.309C>T
n.388C>T
c.4048C>T (p.Gln1350Ter)
n.4344C>T
 ClinVar dbSNP gnomAD v4
2g.71611550A>CCA347228560DYSFc.1559A>C (p.Gln520Pro)
c.776A>C (p.Gln259Pro)
c.734A>C (p.Gln245Pro)
c.4091A>C (p.Gln1364Pro)
c.4145A>C (p.Gln1382Pro)
c.4094A>C (p.Gln1365Pro)
c.4142A>C (p.Gln1381Pro)
c.4187A>C (p.Gln1396Pro)
c.4052A>C (p.Gln1351Pro)
c.4184A>C (p.Gln1395Pro)
n.327A>C
n.475A>C
n.976A>C
n.310A>C
n.389A>C
c.4049A>C (p.Gln1350Pro)
n.4345A>C
2g.71611550A>GCA347228558DYSFc.1559A>G (p.Gln520Arg)
c.776A>G (p.Gln259Arg)
c.734A>G (p.Gln245Arg)
c.4091A>G (p.Gln1364Arg)
c.4145A>G (p.Gln1382Arg)
c.4094A>G (p.Gln1365Arg)
c.4142A>G (p.Gln1381Arg)
c.4187A>G (p.Gln1396Arg)
c.4052A>G (p.Gln1351Arg)
c.4184A>G (p.Gln1395Arg)
n.327A>G
n.475A>G
n.976A>G
n.310A>G
n.389A>G
c.4049A>G (p.Gln1350Arg)
n.4345A>G
2g.71611550A>TCA347228559DYSFc.1559A>T (p.Gln520Leu)
c.776A>T (p.Gln259Leu)
c.734A>T (p.Gln245Leu)
c.4091A>T (p.Gln1364Leu)
c.4145A>T (p.Gln1382Leu)
c.4094A>T (p.Gln1365Leu)
c.4142A>T (p.Gln1381Leu)
c.4187A>T (p.Gln1396Leu)
c.4052A>T (p.Gln1351Leu)
c.4184A>T (p.Gln1395Leu)
n.327A>T
n.475A>T
n.976A>T
n.310A>T
n.389A>T
c.4049A>T (p.Gln1350Leu)
n.4345A>T
2g.71611551G>ACA426758672DYSFc.1560G>A (p.Gln520=)
c.777G>A (p.Gln259=)
c.735G>A (p.Gln245=)
c.4092G>A (p.Gln1364=)
c.4146G>A (p.Gln1382=)
c.4095G>A (p.Gln1365=)
c.4143G>A (p.Gln1381=)
c.4188G>A (p.Gln1396=)
c.4053G>A (p.Gln1351=)
c.4185G>A (p.Gln1395=)
n.328G>A
n.476G>A
n.977G>A
n.311G>A
n.390G>A
c.4050G>A (p.Gln1350=)
n.4346G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611551G>CCA347228561DYSFc.1560G>C (p.Gln520His)
c.777G>C (p.Gln259His)
c.735G>C (p.Gln245His)
c.4092G>C (p.Gln1364His)
c.4146G>C (p.Gln1382His)
c.4095G>C (p.Gln1365His)
c.4143G>C (p.Gln1381His)
c.4188G>C (p.Gln1396His)
c.4053G>C (p.Gln1351His)
c.4185G>C (p.Gln1395His)
n.328G>C
n.476G>C
n.977G>C
n.311G>C
n.390G>C
c.4050G>C (p.Gln1350His)
n.4346G>C
2g.71611551G=CA1260124162DYSFc.1560G= (p.Gln520=)
c.777G= (p.Gln259=)
c.735G= (p.Gln245=)
c.4092G= (p.Gln1364=)
c.4146G= (p.Gln1382=)
c.4095G= (p.Gln1365=)
c.4143G= (p.Gln1381=)
c.4188G= (p.Gln1396=)
c.4053G= (p.Gln1351=)
c.4185G= (p.Gln1395=)
n.328G=
n.476G=
n.977G=
n.311G=
n.390G=
c.4050G= (p.Gln1350=)
n.4346G=
2g.71611551G>TCA347228562DYSFc.1560G>T (p.Gln520His)
c.777G>T (p.Gln259His)
c.735G>T (p.Gln245His)
c.4092G>T (p.Gln1364His)
c.4146G>T (p.Gln1382His)
c.4095G>T (p.Gln1365His)
c.4143G>T (p.Gln1381His)
c.4188G>T (p.Gln1396His)
c.4053G>T (p.Gln1351His)
c.4185G>T (p.Gln1395His)
n.328G>T
n.476G>T
n.977G>T
n.311G>T
n.390G>T
c.4050G>T (p.Gln1350His)
n.4346G>T
2g.71611552A>CCA347228563DYSFc.1561A>C (p.Thr521Pro)
c.778A>C (p.Thr260Pro)
c.736A>C (p.Thr246Pro)
c.4093A>C (p.Thr1365Pro)
c.4147A>C (p.Thr1383Pro)
c.4096A>C (p.Thr1366Pro)
c.4144A>C (p.Thr1382Pro)
c.4189A>C (p.Thr1397Pro)
c.4054A>C (p.Thr1352Pro)
c.4186A>C (p.Thr1396Pro)
n.329A>C
n.477A>C
n.978A>C
n.312A>C
n.391A>C
c.4051A>C (p.Thr1351Pro)
n.4347A>C
2g.71611552A>GCA347228564DYSFc.1561A>G (p.Thr521Ala)
c.778A>G (p.Thr260Ala)
c.736A>G (p.Thr246Ala)
c.4093A>G (p.Thr1365Ala)
c.4147A>G (p.Thr1383Ala)
c.4096A>G (p.Thr1366Ala)
c.4144A>G (p.Thr1382Ala)
c.4189A>G (p.Thr1397Ala)
c.4054A>G (p.Thr1352Ala)
c.4186A>G (p.Thr1396Ala)
n.329A>G
n.477A>G
n.978A>G
n.312A>G
n.391A>G
c.4051A>G (p.Thr1351Ala)
n.4347A>G
 gnomAD v4
2g.71611552A>TCA347228565DYSFc.1561A>T (p.Thr521Ser)
c.778A>T (p.Thr260Ser)
c.736A>T (p.Thr246Ser)
c.4093A>T (p.Thr1365Ser)
c.4147A>T (p.Thr1383Ser)
c.4096A>T (p.Thr1366Ser)
c.4144A>T (p.Thr1382Ser)
c.4189A>T (p.Thr1397Ser)
c.4054A>T (p.Thr1352Ser)
c.4186A>T (p.Thr1396Ser)
n.329A>T
n.477A>T
n.978A>T
n.312A>T
n.391A>T
c.4051A>T (p.Thr1351Ser)
n.4347A>T
2g.71611553C>ACA347228566DYSFc.1562C>A (p.Thr521Lys)
c.779C>A (p.Thr260Lys)
c.737C>A (p.Thr246Lys)
c.4094C>A (p.Thr1365Lys)
c.4148C>A (p.Thr1383Lys)
c.4097C>A (p.Thr1366Lys)
c.4145C>A (p.Thr1382Lys)
c.4190C>A (p.Thr1397Lys)
c.4055C>A (p.Thr1352Lys)
c.4187C>A (p.Thr1396Lys)
n.330C>A
n.478C>A
n.979C>A
n.313C>A
n.392C>A
c.4052C>A (p.Thr1351Lys)
n.4348C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71611553C=CA1260124163DYSFc.1562C= (p.Thr521=)
c.779C= (p.Thr260=)
c.737C= (p.Thr246=)
c.4094C= (p.Thr1365=)
c.4148C= (p.Thr1383=)
c.4097C= (p.Thr1366=)
c.4145C= (p.Thr1382=)
c.4190C= (p.Thr1397=)
c.4055C= (p.Thr1352=)
c.4187C= (p.Thr1396=)
n.330C=
n.478C=
n.979C=
n.313C=
n.392C=
c.4052C= (p.Thr1351=)
n.4348C=
2g.71611553C>GCA347228567DYSFc.1562C>G (p.Thr521Arg)
c.779C>G (p.Thr260Arg)
c.737C>G (p.Thr246Arg)
c.4094C>G (p.Thr1365Arg)
c.4148C>G (p.Thr1383Arg)
c.4097C>G (p.Thr1366Arg)
c.4145C>G (p.Thr1382Arg)
c.4190C>G (p.Thr1397Arg)
c.4055C>G (p.Thr1352Arg)
c.4187C>G (p.Thr1396Arg)
n.330C>G
n.478C>G
n.979C>G
n.313C>G
n.392C>G
c.4052C>G (p.Thr1351Arg)
n.4348C>G
 dbSNP gnomAD v4
2g.71611553C>TCA1706904DYSFc.1562C>T (p.Thr521Met)
c.779C>T (p.Thr260Met)
c.737C>T (p.Thr246Met)
c.4094C>T (p.Thr1365Met)
c.4148C>T (p.Thr1383Met)
c.4097C>T (p.Thr1366Met)
c.4145C>T (p.Thr1382Met)
c.4190C>T (p.Thr1397Met)
c.4055C>T (p.Thr1352Met)
c.4187C>T (p.Thr1396Met)
n.330C>T
n.478C>T
n.979C>T
n.313C>T
n.392C>T
c.4052C>T (p.Thr1351Met)
n.4348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611554G>ACA1706905DYSFc.1563G>A (p.Thr521=)
c.780G>A (p.Thr260=)
c.738G>A (p.Thr246=)
c.4095G>A (p.Thr1365=)
c.4149G>A (p.Thr1383=)
c.4098G>A (p.Thr1366=)
c.4146G>A (p.Thr1382=)
c.4191G>A (p.Thr1397=)
c.4056G>A (p.Thr1352=)
c.4188G>A (p.Thr1396=)
n.331G>A
n.479G>A
n.980G>A
n.314G>A
n.393G>A
c.4053G>A (p.Thr1351=)
n.4349G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611554G>CCA426758678DYSFc.1563G>C (p.Thr521=)
c.780G>C (p.Thr260=)
c.738G>C (p.Thr246=)
c.4095G>C (p.Thr1365=)
c.4149G>C (p.Thr1383=)
c.4098G>C (p.Thr1366=)
c.4146G>C (p.Thr1382=)
c.4191G>C (p.Thr1397=)
c.4056G>C (p.Thr1352=)
c.4188G>C (p.Thr1396=)
n.331G>C
n.479G>C
n.980G>C
n.314G>C
n.393G>C
c.4053G>C (p.Thr1351=)
n.4349G>C
 gnomAD v4
2g.71611554G=CA1260124164DYSFc.1563G= (p.Thr521=)
c.780G= (p.Thr260=)
c.738G= (p.Thr246=)
c.4095G= (p.Thr1365=)
c.4149G= (p.Thr1383=)
c.4098G= (p.Thr1366=)
c.4146G= (p.Thr1382=)
c.4191G= (p.Thr1397=)
c.4056G= (p.Thr1352=)
c.4188G= (p.Thr1396=)
n.331G=
n.479G=
n.980G=
n.314G=
n.393G=
c.4053G= (p.Thr1351=)
n.4349G=
2g.71611554G>TCA426758677DYSFc.1563G>T (p.Thr521=)
c.780G>T (p.Thr260=)
c.738G>T (p.Thr246=)
c.4095G>T (p.Thr1365=)
c.4149G>T (p.Thr1383=)
c.4098G>T (p.Thr1366=)
c.4146G>T (p.Thr1382=)
c.4191G>T (p.Thr1397=)
c.4056G>T (p.Thr1352=)
c.4188G>T (p.Thr1396=)
n.331G>T
n.479G>T
n.980G>T
n.314G>T
n.393G>T
c.4053G>T (p.Thr1351=)
n.4349G>T
 ClinVar
2g.71611554_71611565delCA2659553256DYSFc.1563_1574del (p.Val522_Cys525del)
c.780_791del (p.Val261_Cys264del)
c.738_749del (p.Val247_Cys250del)
c.4095_4106del (p.Val1366_Cys1369del)
c.4149_4160del (p.Val1384_Cys1387del)
c.4098_4109del (p.Val1367_Cys1370del)
c.4146_4157del (p.Val1383_Cys1386del)
c.4191_4202del (p.Val1398_Cys1401del)
c.4056_4067del (p.Val1353_Cys1356del)
c.4188_4199del (p.Val1397_Cys1400del)
n.331_342del
n.479_490del
n.980_991del
n.314_325del
n.393_404del
c.4053_4064del (p.Val1352_Cys1355del)
n.4349_4360del
 gnomAD v4
2g.71611555G>ACA347228568DYSFc.1564G>A (p.Val522Met)
c.781G>A (p.Val261Met)
c.739G>A (p.Val247Met)
c.4096G>A (p.Val1366Met)
c.4150G>A (p.Val1384Met)
c.4099G>A (p.Val1367Met)
c.4147G>A (p.Val1383Met)
c.4192G>A (p.Val1398Met)
c.4057G>A (p.Val1353Met)
c.4189G>A (p.Val1397Met)
n.332G>A
n.480G>A
n.981G>A
n.315G>A
n.394G>A
c.4054G>A (p.Val1352Met)
n.4350G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611555G>CCA347228569DYSFc.1564G>C (p.Val522Leu)
c.781G>C (p.Val261Leu)
c.739G>C (p.Val247Leu)
c.4096G>C (p.Val1366Leu)
c.4150G>C (p.Val1384Leu)
c.4099G>C (p.Val1367Leu)
c.4147G>C (p.Val1383Leu)
c.4192G>C (p.Val1398Leu)
c.4057G>C (p.Val1353Leu)
c.4189G>C (p.Val1397Leu)
n.332G>C
n.480G>C
n.981G>C
n.315G>C
n.394G>C
c.4054G>C (p.Val1352Leu)
n.4350G>C
2g.71611555G=CA1260124165DYSFc.1564G= (p.Val522=)
c.781G= (p.Val261=)
c.739G= (p.Val247=)
c.4096G= (p.Val1366=)
c.4150G= (p.Val1384=)
c.4099G= (p.Val1367=)
c.4147G= (p.Val1383=)
c.4192G= (p.Val1398=)
c.4057G= (p.Val1353=)
c.4189G= (p.Val1397=)
n.332G=
n.480G=
n.981G=
n.315G=
n.394G=
c.4054G= (p.Val1352=)
n.4350G=
2g.71611555G>TCA347228570DYSFc.1564G>T (p.Val522Leu)
c.781G>T (p.Val261Leu)
c.739G>T (p.Val247Leu)
c.4096G>T (p.Val1366Leu)
c.4150G>T (p.Val1384Leu)
c.4099G>T (p.Val1367Leu)
c.4147G>T (p.Val1383Leu)
c.4192G>T (p.Val1398Leu)
c.4057G>T (p.Val1353Leu)
c.4189G>T (p.Val1397Leu)
n.332G>T
n.480G>T
n.981G>T
n.315G>T
n.394G>T
c.4054G>T (p.Val1352Leu)
n.4350G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71611556T>ACA347228571DYSFc.1565T>A (p.Val522Glu)
c.782T>A (p.Val261Glu)
c.740T>A (p.Val247Glu)
c.4097T>A (p.Val1366Glu)
c.4151T>A (p.Val1384Glu)
c.4100T>A (p.Val1367Glu)
c.4148T>A (p.Val1383Glu)
c.4193T>A (p.Val1398Glu)
c.4058T>A (p.Val1353Glu)
c.4190T>A (p.Val1397Glu)
n.333T>A
n.481T>A
n.982T>A
n.316T>A
n.395T>A
c.4055T>A (p.Val1352Glu)
n.4351T>A
 dbSNP gnomAD v4
2g.71611556T>CCA1706906DYSFc.1565T>C (p.Val522Ala)
c.782T>C (p.Val261Ala)
c.740T>C (p.Val247Ala)
c.4097T>C (p.Val1366Ala)
c.4151T>C (p.Val1384Ala)
c.4100T>C (p.Val1367Ala)
c.4148T>C (p.Val1383Ala)
c.4193T>C (p.Val1398Ala)
c.4058T>C (p.Val1353Ala)
c.4190T>C (p.Val1397Ala)
n.333T>C
n.481T>C
n.982T>C
n.316T>C
n.395T>C
c.4055T>C (p.Val1352Ala)
n.4351T>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.71611556T>GCA347228572DYSFc.1565T>G (p.Val522Gly)
c.782T>G (p.Val261Gly)
c.740T>G (p.Val247Gly)
c.4097T>G (p.Val1366Gly)
c.4151T>G (p.Val1384Gly)
c.4100T>G (p.Val1367Gly)
c.4148T>G (p.Val1383Gly)
c.4193T>G (p.Val1398Gly)
c.4058T>G (p.Val1353Gly)
c.4190T>G (p.Val1397Gly)
n.333T>G
n.481T>G
n.982T>G
n.316T>G
n.395T>G
c.4055T>G (p.Val1352Gly)
n.4351T>G
2g.71611556T=CA1260124166DYSFc.1565T= (p.Val522=)
c.782T= (p.Val261=)
c.740T= (p.Val247=)
c.4097T= (p.Val1366=)
c.4151T= (p.Val1384=)
c.4100T= (p.Val1367=)
c.4148T= (p.Val1383=)
c.4193T= (p.Val1398=)
c.4058T= (p.Val1353=)
c.4190T= (p.Val1397=)
n.333T=
n.481T=
n.982T=
n.316T=
n.395T=
c.4055T= (p.Val1352=)
n.4351T=
2g.71611557G>ACA1706907DYSFc.1566G>A (p.Val522=)
c.783G>A (p.Val261=)
c.741G>A (p.Val247=)
c.4098G>A (p.Val1366=)
c.4152G>A (p.Val1384=)
c.4101G>A (p.Val1367=)
c.4149G>A (p.Val1383=)
c.4194G>A (p.Val1398=)
c.4059G>A (p.Val1353=)
c.4191G>A (p.Val1397=)
n.334G>A
n.482G>A
n.983G>A
n.317G>A
n.396G>A
c.4056G>A (p.Val1352=)
n.4352G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611557G>CCA426758687DYSFc.1566G>C (p.Val522=)
c.783G>C (p.Val261=)
c.741G>C (p.Val247=)
c.4098G>C (p.Val1366=)
c.4152G>C (p.Val1384=)
c.4101G>C (p.Val1367=)
c.4149G>C (p.Val1383=)
c.4194G>C (p.Val1398=)
c.4059G>C (p.Val1353=)
c.4191G>C (p.Val1397=)
n.334G>C
n.482G>C
n.983G>C
n.317G>C
n.396G>C
c.4056G>C (p.Val1352=)
n.4352G>C
 ClinVar dbSNP
2g.71611557G=CA1260124167DYSFc.1566G= (p.Val522=)
c.783G= (p.Val261=)
c.741G= (p.Val247=)
c.4098G= (p.Val1366=)
c.4152G= (p.Val1384=)
c.4101G= (p.Val1367=)
c.4149G= (p.Val1383=)
c.4194G= (p.Val1398=)
c.4059G= (p.Val1353=)
c.4191G= (p.Val1397=)
n.334G=
n.482G=
n.983G=
n.317G=
n.396G=
c.4056G= (p.Val1352=)
n.4352G=
2g.71611557G>TCA426758689DYSFc.1566G>T (p.Val522=)
c.783G>T (p.Val261=)
c.741G>T (p.Val247=)
c.4098G>T (p.Val1366=)
c.4152G>T (p.Val1384=)
c.4101G>T (p.Val1367=)
c.4149G>T (p.Val1383=)
c.4194G>T (p.Val1398=)
c.4059G>T (p.Val1353=)
c.4191G>T (p.Val1397=)
n.334G>T
n.482G>T
n.983G>T
n.317G>T
n.396G>T
c.4056G>T (p.Val1352=)
n.4352G>T
2g.71611558C>ACA347228573DYSFc.1567C>A (p.Gln523Lys)
c.784C>A (p.Gln262Lys)
c.742C>A (p.Gln248Lys)
c.4099C>A (p.Gln1367Lys)
c.4153C>A (p.Gln1385Lys)
c.4102C>A (p.Gln1368Lys)
c.4150C>A (p.Gln1384Lys)
c.4195C>A (p.Gln1399Lys)
c.4060C>A (p.Gln1354Lys)
c.4192C>A (p.Gln1398Lys)
n.335C>A
n.483C>A
n.984C>A
n.318C>A
n.397C>A
c.4057C>A (p.Gln1353Lys)
n.4353C>A
2g.71611558C=CA1260124168DYSFc.1567C= (p.Gln523=)
c.784C= (p.Gln262=)
c.742C= (p.Gln248=)
c.4099C= (p.Gln1367=)
c.4153C= (p.Gln1385=)
c.4102C= (p.Gln1368=)
c.4150C= (p.Gln1384=)
c.4195C= (p.Gln1399=)
c.4060C= (p.Gln1354=)
c.4192C= (p.Gln1398=)
n.335C=
n.483C=
n.984C=
n.318C=
n.397C=
c.4057C= (p.Gln1353=)
n.4353C=
2g.71611558C>GCA347228574DYSFc.1567C>G (p.Gln523Glu)
c.784C>G (p.Gln262Glu)
c.742C>G (p.Gln248Glu)
c.4099C>G (p.Gln1367Glu)
c.4153C>G (p.Gln1385Glu)
c.4102C>G (p.Gln1368Glu)
c.4150C>G (p.Gln1384Glu)
c.4195C>G (p.Gln1399Glu)
c.4060C>G (p.Gln1354Glu)
c.4192C>G (p.Gln1398Glu)
n.335C>G
n.483C>G
n.984C>G
n.318C>G
n.397C>G
c.4057C>G (p.Gln1353Glu)
n.4353C>G
2g.71611558C>TCA347228576DYSFc.1567C>T (p.Gln523Ter)
c.784C>T (p.Gln262Ter)
c.742C>T (p.Gln248Ter)
c.4099C>T (p.Gln1367Ter)
c.4153C>T (p.Gln1385Ter)
c.4102C>T (p.Gln1368Ter)
c.4150C>T (p.Gln1384Ter)
c.4195C>T (p.Gln1399Ter)
c.4060C>T (p.Gln1354Ter)
c.4192C>T (p.Gln1398Ter)
n.335C>T
n.483C>T
n.984C>T
n.318C>T
n.397C>T
c.4057C>T (p.Gln1353Ter)
n.4353C>T
 ClinVar dbSNP
2g.71611559A=CA1260124169DYSFc.1568A= (p.Gln523=)
c.785A= (p.Gln262=)
c.743A= (p.Gln248=)
c.4100A= (p.Gln1367=)
c.4154A= (p.Gln1385=)
c.4103A= (p.Gln1368=)
c.4151A= (p.Gln1384=)
c.4196A= (p.Gln1399=)
c.4061A= (p.Gln1354=)
c.4193A= (p.Gln1398=)
n.336A=
n.484A=
n.985A=
n.319A=
n.398A=
c.4058A= (p.Gln1353=)
n.4354A=
2g.71611559A>CCA347228579DYSFc.1568A>C (p.Gln523Pro)
c.785A>C (p.Gln262Pro)
c.743A>C (p.Gln248Pro)
c.4100A>C (p.Gln1367Pro)
c.4154A>C (p.Gln1385Pro)
c.4103A>C (p.Gln1368Pro)
c.4151A>C (p.Gln1384Pro)
c.4196A>C (p.Gln1399Pro)
c.4061A>C (p.Gln1354Pro)
c.4193A>C (p.Gln1398Pro)
n.336A>C
n.484A>C
n.985A>C
n.319A>C
n.398A>C
c.4058A>C (p.Gln1353Pro)
n.4354A>C
2g.71611559A>GCA347228583DYSFc.1568A>G (p.Gln523Arg)
c.785A>G (p.Gln262Arg)
c.743A>G (p.Gln248Arg)
c.4100A>G (p.Gln1367Arg)
c.4154A>G (p.Gln1385Arg)
c.4103A>G (p.Gln1368Arg)
c.4151A>G (p.Gln1384Arg)
c.4196A>G (p.Gln1399Arg)
c.4061A>G (p.Gln1354Arg)
c.4193A>G (p.Gln1398Arg)
n.336A>G
n.484A>G
n.985A>G
n.319A>G
n.398A>G
c.4058A>G (p.Gln1353Arg)
n.4354A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71611559A>TCA347228581DYSFc.1568A>T (p.Gln523Leu)
c.785A>T (p.Gln262Leu)
c.743A>T (p.Gln248Leu)
c.4100A>T (p.Gln1367Leu)
c.4154A>T (p.Gln1385Leu)
c.4103A>T (p.Gln1368Leu)
c.4151A>T (p.Gln1384Leu)
c.4196A>T (p.Gln1399Leu)
c.4061A>T (p.Gln1354Leu)
c.4193A>T (p.Gln1398Leu)
n.336A>T
n.484A>T
n.985A>T
n.319A>T
n.398A>T
c.4058A>T (p.Gln1353Leu)
n.4354A>T
2g.71611560G>ACA1706908DYSFc.1569G>A (p.Gln523=)
c.786G>A (p.Gln262=)
c.744G>A (p.Gln248=)
c.4101G>A (p.Gln1367=)
c.4155G>A (p.Gln1385=)
c.4104G>A (p.Gln1368=)
c.4152G>A (p.Gln1384=)
c.4197G>A (p.Gln1399=)
c.4062G>A (p.Gln1354=)
c.4194G>A (p.Gln1398=)
n.337G>A
n.485G>A
n.986G>A
n.320G>A
n.399G>A
c.4059G>A (p.Gln1353=)
n.4355G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611560G>CCA347228588DYSFc.1569G>C (p.Gln523His)
c.786G>C (p.Gln262His)
c.744G>C (p.Gln248His)
c.4101G>C (p.Gln1367His)
c.4155G>C (p.Gln1385His)
c.4104G>C (p.Gln1368His)
c.4152G>C (p.Gln1384His)
c.4197G>C (p.Gln1399His)
c.4062G>C (p.Gln1354His)
c.4194G>C (p.Gln1398His)
n.337G>C
n.485G>C
n.986G>C
n.320G>C
n.399G>C
c.4059G>C (p.Gln1353His)
n.4355G>C
2g.71611560G=CA1260124170DYSFc.1569G= (p.Gln523=)
c.786G= (p.Gln262=)
c.744G= (p.Gln248=)
c.4101G= (p.Gln1367=)
c.4155G= (p.Gln1385=)
c.4104G= (p.Gln1368=)
c.4152G= (p.Gln1384=)
c.4197G= (p.Gln1399=)
c.4062G= (p.Gln1354=)
c.4194G= (p.Gln1398=)
n.337G=
n.485G=
n.986G=
n.320G=
n.399G=
c.4059G= (p.Gln1353=)
n.4355G=
2g.71611560G>TCA347228591DYSFc.1569G>T (p.Gln523His)
c.786G>T (p.Gln262His)
c.744G>T (p.Gln248His)
c.4101G>T (p.Gln1367His)
c.4155G>T (p.Gln1385His)
c.4104G>T (p.Gln1368His)
c.4152G>T (p.Gln1384His)
c.4197G>T (p.Gln1399His)
c.4062G>T (p.Gln1354His)
c.4194G>T (p.Gln1398His)
n.337G>T
n.485G>T
n.986G>T
n.320G>T
n.399G>T
c.4059G>T (p.Gln1353His)
n.4355G>T
 gnomAD v4
2g.71611563_71611569delCA2586969509DYSFc.1572_1578del (p.Cys525SerfsTer19)
c.789_795del (p.Cys264SerfsTer19)
c.747_753del (p.Cys250SerfsTer19)
c.4104_4110del (p.Cys1369SerfsTer19)
c.4158_4164del (p.Cys1387SerfsTer19)
c.4107_4113del (p.Cys1370SerfsTer19)
c.4155_4161del (p.Cys1386SerfsTer19)
c.4200_4206del (p.Cys1401SerfsTer19)
c.4065_4071del (p.Cys1356SerfsTer19)
c.4197_4203del (p.Cys1400SerfsTer19)
n.340_346del
n.488_494del
n.989_995del
n.323_329del
n.402_408del
c.4062_4068del (p.Cys1355SerfsTer19)
n.4358_4364del
2g.71611561T>ACA347228594DYSFc.1570T>A (p.Ser524Thr)
c.787T>A (p.Ser263Thr)
c.745T>A (p.Ser249Thr)
c.4102T>A (p.Ser1368Thr)
c.4156T>A (p.Ser1386Thr)
c.4105T>A (p.Ser1369Thr)
c.4153T>A (p.Ser1385Thr)
c.4198T>A (p.Ser1400Thr)
c.4063T>A (p.Ser1355Thr)
c.4195T>A (p.Ser1399Thr)
n.338T>A
n.486T>A
n.987T>A
n.321T>A
n.400T>A
c.4060T>A (p.Ser1354Thr)
n.4356T>A
2g.71611561T>CCA347228596DYSFc.1570T>C (p.Ser524Pro)
c.787T>C (p.Ser263Pro)
c.745T>C (p.Ser249Pro)
c.4102T>C (p.Ser1368Pro)
c.4156T>C (p.Ser1386Pro)
c.4105T>C (p.Ser1369Pro)
c.4153T>C (p.Ser1385Pro)
c.4198T>C (p.Ser1400Pro)
c.4063T>C (p.Ser1355Pro)
c.4195T>C (p.Ser1399Pro)
n.338T>C
n.486T>C
n.987T>C
n.321T>C
n.400T>C
c.4060T>C (p.Ser1354Pro)
n.4356T>C
2g.71611561T>GCA347228598DYSFc.1570T>G (p.Ser524Ala)
c.787T>G (p.Ser263Ala)
c.745T>G (p.Ser249Ala)
c.4102T>G (p.Ser1368Ala)
c.4156T>G (p.Ser1386Ala)
c.4105T>G (p.Ser1369Ala)
c.4153T>G (p.Ser1385Ala)
c.4198T>G (p.Ser1400Ala)
c.4063T>G (p.Ser1355Ala)
c.4195T>G (p.Ser1399Ala)
n.338T>G
n.486T>G
n.987T>G
n.321T>G
n.400T>G
c.4060T>G (p.Ser1354Ala)
n.4356T>G
2g.71611561T=CA1260124171DYSFc.1570T= (p.Ser524=)
c.787T= (p.Ser263=)
c.745T= (p.Ser249=)
c.4102T= (p.Ser1368=)
c.4156T= (p.Ser1386=)
c.4105T= (p.Ser1369=)
c.4153T= (p.Ser1385=)
c.4198T= (p.Ser1400=)
c.4063T= (p.Ser1355=)
c.4195T= (p.Ser1399=)
n.338T=
n.486T=
n.987T=
n.321T=
n.400T=
c.4060T= (p.Ser1354=)
n.4356T=
2g.71611562C>ACA347228601DYSFc.1571C>A (p.Ser524Tyr)
c.788C>A (p.Ser263Tyr)
c.746C>A (p.Ser249Tyr)
c.4103C>A (p.Ser1368Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4106C>A (p.Ser1369Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4199C>A (p.Ser1400Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4196C>A (p.Ser1399Tyr)
n.339C>A
n.487C>A
n.988C>A
n.322C>A
n.401C>A
c.4061C>A (p.Ser1354Tyr)
n.4357C>A
2g.71611562C=CA1260124173DYSFc.1571C= (p.Ser524=)
c.788C= (p.Ser263=)
c.746C= (p.Ser249=)
c.4103C= (p.Ser1368=)
c.4157C= (p.Ser1386=)
c.4106C= (p.Ser1369=)
c.4154C= (p.Ser1385=)
c.4199C= (p.Ser1400=)
c.4064C= (p.Ser1355=)
c.4196C= (p.Ser1399=)
n.339C=
n.487C=
n.988C=
n.322C=
n.401C=
c.4061C= (p.Ser1354=)
n.4357C=
2g.71611562C>GCA347228603DYSFc.1571C>G (p.Ser524Cys)
c.788C>G (p.Ser263Cys)
c.746C>G (p.Ser249Cys)
c.4103C>G (p.Ser1368Cys)
c.4157C>G (p.Ser1386Cys)
c.4106C>G (p.Ser1369Cys)
c.4154C>G (p.Ser1385Cys)
c.4199C>G (p.Ser1400Cys)
c.4064C>G (p.Ser1355Cys)
c.4196C>G (p.Ser1399Cys)
n.339C>G
n.487C>G
n.988C>G
n.322C>G
n.401C>G
c.4061C>G (p.Ser1354Cys)
n.4357C>G
2g.71611562C>TCA347228604DYSFc.1571C>T (p.Ser524Phe)
c.788C>T (p.Ser263Phe)
c.746C>T (p.Ser249Phe)
c.4103C>T (p.Ser1368Phe)
c.4157C>T (p.Ser1386Phe)
c.4106C>T (p.Ser1369Phe)
c.4154C>T (p.Ser1385Phe)
c.4199C>T (p.Ser1400Phe)
c.4064C>T (p.Ser1355Phe)
c.4196C>T (p.Ser1399Phe)
n.339C>T
n.487C>T
n.988C>T
n.322C>T
n.401C>T
c.4061C>T (p.Ser1354Phe)
n.4357C>T
 dbSNP
2g.71611562_71611565dupCA1260124172DYSFc.1571_1574dup (p.Val526LeufsTer13)
c.788_791dup (p.Val265LeufsTer13)
c.746_749dup (p.Val251LeufsTer13)
c.4103_4106dup (p.Val1370LeufsTer13)
c.4157_4160dup (p.Val1388LeufsTer13)
c.4106_4109dup (p.Val1371LeufsTer13)
c.4154_4157dup (p.Val1387LeufsTer13)
c.4199_4202dup (p.Val1402LeufsTer13)
c.4064_4067dup (p.Val1357LeufsTer13)
c.4196_4199dup (p.Val1401LeufsTer13)
n.339_342dup
n.487_490dup
n.988_991dup
n.322_325dup
n.401_404dup
c.4061_4064dup (p.Val1356LeufsTer13)
n.4357_4360dup
 dbSNP
2g.71611563C>ACA426758699DYSFc.1572C>A (p.Ser524=)
c.789C>A (p.Ser263=)
c.747C>A (p.Ser249=)
c.4104C>A (p.Ser1368=)
c.4158C>A (p.Ser1386=)
c.4107C>A (p.Ser1369=)
c.4155C>A (p.Ser1385=)
c.4200C>A (p.Ser1400=)
c.4065C>A (p.Ser1355=)
c.4197C>A (p.Ser1399=)
n.340C>A
n.488C>A
n.989C>A
n.323C>A
n.402C>A
c.4062C>A (p.Ser1354=)
n.4358C>A
2g.71611563C>GCA426758700DYSFc.1572C>G (p.Ser524=)
c.789C>G (p.Ser263=)
c.747C>G (p.Ser249=)
c.4104C>G (p.Ser1368=)
c.4158C>G (p.Ser1386=)
c.4107C>G (p.Ser1369=)
c.4155C>G (p.Ser1385=)
c.4200C>G (p.Ser1400=)
c.4065C>G (p.Ser1355=)
c.4197C>G (p.Ser1399=)
n.340C>G
n.488C>G
n.989C>G
n.323C>G
n.402C>G
c.4062C>G (p.Ser1354=)
n.4358C>G
2g.71611563C>TCA426758703DYSFc.1572C>T (p.Ser524=)
c.789C>T (p.Ser263=)
c.747C>T (p.Ser249=)
c.4104C>T (p.Ser1368=)
c.4158C>T (p.Ser1386=)
c.4107C>T (p.Ser1369=)
c.4155C>T (p.Ser1385=)
c.4200C>T (p.Ser1400=)
c.4065C>T (p.Ser1355=)
c.4197C>T (p.Ser1399=)
n.340C>T
n.488C>T
n.989C>T
n.323C>T
n.402C>T
c.4062C>T (p.Ser1354=)
n.4358C>T
2g.71611564T>ACA347228607DYSFc.1573T>A (p.Cys525Ser)
c.790T>A (p.Cys264Ser)
c.748T>A (p.Cys250Ser)
c.4105T>A (p.Cys1369Ser)
c.4159T>A (p.Cys1387Ser)
c.4108T>A (p.Cys1370Ser)
c.4156T>A (p.Cys1386Ser)
c.4201T>A (p.Cys1401Ser)
c.4066T>A (p.Cys1356Ser)
c.4198T>A (p.Cys1400Ser)
n.341T>A
n.489T>A
n.990T>A
n.324T>A
n.403T>A
c.4063T>A (p.Cys1355Ser)
n.4359T>A
2g.71611564T>CCA347228609DYSFc.1573T>C (p.Cys525Arg)
c.790T>C (p.Cys264Arg)
c.748T>C (p.Cys250Arg)
c.4105T>C (p.Cys1369Arg)
c.4159T>C (p.Cys1387Arg)
c.4108T>C (p.Cys1370Arg)
c.4156T>C (p.Cys1386Arg)
c.4201T>C (p.Cys1401Arg)
c.4066T>C (p.Cys1356Arg)
c.4198T>C (p.Cys1400Arg)
n.341T>C
n.489T>C
n.990T>C
n.324T>C
n.403T>C
c.4063T>C (p.Cys1355Arg)
n.4359T>C
2g.71611564T>GCA347228611DYSFc.1573T>G (p.Cys525Gly)
c.790T>G (p.Cys264Gly)
c.748T>G (p.Cys250Gly)
c.4105T>G (p.Cys1369Gly)
c.4159T>G (p.Cys1387Gly)
c.4108T>G (p.Cys1370Gly)
c.4156T>G (p.Cys1386Gly)
c.4201T>G (p.Cys1401Gly)
c.4066T>G (p.Cys1356Gly)
c.4198T>G (p.Cys1400Gly)
n.341T>G
n.489T>G
n.990T>G
n.324T>G
n.403T>G
c.4063T>G (p.Cys1355Gly)
n.4359T>G
2g.71611565G>ACA347228620DYSFc.1574G>A (p.Cys525Tyr)
c.791G>A (p.Cys264Tyr)
c.749G>A (p.Cys250Tyr)
c.4106G>A (p.Cys1369Tyr)
c.4160G>A (p.Cys1387Tyr)
c.4109G>A (p.Cys1370Tyr)
c.4157G>A (p.Cys1386Tyr)
c.4202G>A (p.Cys1401Tyr)
c.4067G>A (p.Cys1356Tyr)
c.4199G>A (p.Cys1400Tyr)
n.342G>A
n.490G>A
n.991G>A
n.325G>A
n.404G>A
c.4064G>A (p.Cys1355Tyr)
n.4360G>A
 gnomAD v4
2g.71611565G>CCA347228614DYSFc.1574G>C (p.Cys525Ser)
c.791G>C (p.Cys264Ser)
c.749G>C (p.Cys250Ser)
c.4106G>C (p.Cys1369Ser)
c.4160G>C (p.Cys1387Ser)
c.4109G>C (p.Cys1370Ser)
c.4157G>C (p.Cys1386Ser)
c.4202G>C (p.Cys1401Ser)
c.4067G>C (p.Cys1356Ser)
c.4199G>C (p.Cys1400Ser)
n.342G>C
n.490G>C
n.991G>C
n.325G>C
n.404G>C
c.4064G>C (p.Cys1355Ser)
n.4360G>C
2g.71611565G>TCA347228617DYSFc.1574G>T (p.Cys525Phe)
c.791G>T (p.Cys264Phe)
c.749G>T (p.Cys250Phe)
c.4106G>T (p.Cys1369Phe)
c.4160G>T (p.Cys1387Phe)
c.4109G>T (p.Cys1370Phe)
c.4157G>T (p.Cys1386Phe)
c.4202G>T (p.Cys1401Phe)
c.4067G>T (p.Cys1356Phe)
c.4199G>T (p.Cys1400Phe)
n.342G>T
n.490G>T
n.991G>T
n.325G>T
n.404G>T
c.4064G>T (p.Cys1355Phe)
n.4360G>T
2g.71611566T>ACA347228623DYSFc.1575T>A (p.Cys525Ter)
c.792T>A (p.Cys264Ter)
c.750T>A (p.Cys250Ter)
c.4107T>A (p.Cys1369Ter)
c.4161T>A (p.Cys1387Ter)
c.4110T>A (p.Cys1370Ter)
c.4158T>A (p.Cys1386Ter)
c.4203T>A (p.Cys1401Ter)
c.4068T>A (p.Cys1356Ter)
c.4200T>A (p.Cys1400Ter)
n.343T>A
n.491T>A
n.992T>A
n.326T>A
n.405T>A
c.4065T>A (p.Cys1355Ter)
n.4361T>A
2g.71611566T>CCA426758710DYSFc.1575T>C (p.Cys525=)
c.792T>C (p.Cys264=)
c.750T>C (p.Cys250=)
c.4107T>C (p.Cys1369=)
c.4161T>C (p.Cys1387=)
c.4110T>C (p.Cys1370=)
c.4158T>C (p.Cys1386=)
c.4203T>C (p.Cys1401=)
c.4068T>C (p.Cys1356=)
c.4200T>C (p.Cys1400=)
n.343T>C
n.491T>C
n.992T>C
n.326T>C
n.405T>C
c.4065T>C (p.Cys1355=)
n.4361T>C
2g.71611566T>GCA347228625DYSFc.1575T>G (p.Cys525Trp)
c.792T>G (p.Cys264Trp)
c.750T>G (p.Cys250Trp)
c.4107T>G (p.Cys1369Trp)
c.4161T>G (p.Cys1387Trp)
c.4110T>G (p.Cys1370Trp)
c.4158T>G (p.Cys1386Trp)
c.4203T>G (p.Cys1401Trp)
c.4068T>G (p.Cys1356Trp)
c.4200T>G (p.Cys1400Trp)
n.343T>G
n.491T>G
n.992T>G
n.326T>G
n.405T>G
c.4065T>G (p.Cys1355Trp)
n.4361T>G
2g.71611567G>ACA347228628DYSFc.1576G>A (p.Val526Ile)
c.793G>A (p.Val265Ile)
c.751G>A (p.Val251Ile)
c.4108G>A (p.Val1370Ile)
c.4162G>A (p.Val1388Ile)
c.4111G>A (p.Val1371Ile)
c.4159G>A (p.Val1387Ile)
c.4204G>A (p.Val1402Ile)
c.4069G>A (p.Val1357Ile)
c.4201G>A (p.Val1401Ile)
n.344G>A
n.492G>A
n.993G>A
n.327G>A
n.406G>A
c.4066G>A (p.Val1356Ile)
n.4362G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611567G>CCA347228630DYSFc.1576G>C (p.Val526Leu)
c.793G>C (p.Val265Leu)
c.751G>C (p.Val251Leu)
c.4108G>C (p.Val1370Leu)
c.4162G>C (p.Val1388Leu)
c.4111G>C (p.Val1371Leu)
c.4159G>C (p.Val1387Leu)
c.4204G>C (p.Val1402Leu)
c.4069G>C (p.Val1357Leu)
c.4201G>C (p.Val1401Leu)
n.344G>C
n.492G>C
n.993G>C
n.327G>C
n.406G>C
c.4066G>C (p.Val1356Leu)
n.4362G>C
2g.71611567G=CA1260124174DYSFc.1576G= (p.Val526=)
c.793G= (p.Val265=)
c.751G= (p.Val251=)
c.4108G= (p.Val1370=)
c.4162G= (p.Val1388=)
c.4111G= (p.Val1371=)
c.4159G= (p.Val1387=)
c.4204G= (p.Val1402=)
c.4069G= (p.Val1357=)
c.4201G= (p.Val1401=)
n.344G=
n.492G=
n.993G=
n.327G=
n.406G=
c.4066G= (p.Val1356=)
n.4362G=
2g.71611567G>TCA347228631DYSFc.1576G>T (p.Val526Phe)
c.793G>T (p.Val265Phe)
c.751G>T (p.Val251Phe)
c.4108G>T (p.Val1370Phe)
c.4162G>T (p.Val1388Phe)
c.4111G>T (p.Val1371Phe)
c.4159G>T (p.Val1387Phe)
c.4204G>T (p.Val1402Phe)
c.4069G>T (p.Val1357Phe)
c.4201G>T (p.Val1401Phe)
n.344G>T
n.492G>T
n.993G>T
n.327G>T
n.406G>T
c.4066G>T (p.Val1356Phe)
n.4362G>T
2g.71611568T>ACA347228635DYSFc.1577T>A (p.Val526Asp)
c.794T>A (p.Val265Asp)
c.752T>A (p.Val251Asp)
c.4109T>A (p.Val1370Asp)
c.4163T>A (p.Val1388Asp)
c.4112T>A (p.Val1371Asp)
c.4160T>A (p.Val1387Asp)
c.4205T>A (p.Val1402Asp)
c.4070T>A (p.Val1357Asp)
c.4202T>A (p.Val1401Asp)
n.345T>A
n.493T>A
n.994T>A
n.328T>A
n.407T>A
c.4067T>A (p.Val1356Asp)
n.4363T>A
2g.71611568T>CCA347228636DYSFc.1577T>C (p.Val526Ala)
c.794T>C (p.Val265Ala)
c.752T>C (p.Val251Ala)
c.4109T>C (p.Val1370Ala)
c.4163T>C (p.Val1388Ala)
c.4112T>C (p.Val1371Ala)
c.4160T>C (p.Val1387Ala)
c.4205T>C (p.Val1402Ala)
c.4070T>C (p.Val1357Ala)
c.4202T>C (p.Val1401Ala)
n.345T>C
n.493T>C
n.994T>C
n.328T>C
n.407T>C
c.4067T>C (p.Val1356Ala)
n.4363T>C
 gnomAD v4
2g.71611568T>GCA347228638DYSFc.1577T>G (p.Val526Gly)
c.794T>G (p.Val265Gly)
c.752T>G (p.Val251Gly)
c.4109T>G (p.Val1370Gly)
c.4163T>G (p.Val1388Gly)
c.4112T>G (p.Val1371Gly)
c.4160T>G (p.Val1387Gly)
c.4205T>G (p.Val1402Gly)
c.4070T>G (p.Val1357Gly)
c.4202T>G (p.Val1401Gly)
n.345T>G
n.493T>G
n.994T>G
n.328T>G
n.407T>G
c.4067T>G (p.Val1356Gly)
n.4363T>G
2g.71611569C>ACA426758716DYSFc.1578C>A (p.Val526=)
c.795C>A (p.Val265=)
c.753C>A (p.Val251=)
c.4110C>A (p.Val1370=)
c.4164C>A (p.Val1388=)
c.4113C>A (p.Val1371=)
c.4161C>A (p.Val1387=)
c.4206C>A (p.Val1402=)
c.4071C>A (p.Val1357=)
c.4203C>A (p.Val1401=)
n.346C>A
n.494C>A
n.995C>A
n.329C>A
n.408C>A
c.4068C>A (p.Val1356=)
n.4364C>A
2g.71611569C>GCA426758717DYSFc.1578C>G (p.Val526=)
c.795C>G (p.Val265=)
c.753C>G (p.Val251=)
c.4110C>G (p.Val1370=)
c.4164C>G (p.Val1388=)
c.4113C>G (p.Val1371=)
c.4161C>G (p.Val1387=)
c.4206C>G (p.Val1402=)
c.4071C>G (p.Val1357=)
c.4203C>G (p.Val1401=)
n.346C>G
n.494C>G
n.995C>G
n.329C>G
n.408C>G
c.4068C>G (p.Val1356=)
n.4364C>G
 ClinVar dbSNP gnomAD v4
2g.71611569C>TCA426758719DYSFc.1578C>T (p.Val526=)
c.795C>T (p.Val265=)
c.753C>T (p.Val251=)
c.4110C>T (p.Val1370=)
c.4164C>T (p.Val1388=)
c.4113C>T (p.Val1371=)
c.4161C>T (p.Val1387=)
c.4206C>T (p.Val1402=)
c.4071C>T (p.Val1357=)
c.4203C>T (p.Val1401=)
n.346C>T
n.494C>T
n.995C>T
n.329C>T
n.408C>T
c.4068C>T (p.Val1356=)
n.4364C>T
2g.71611570A>CCA347228640DYSFc.1579A>C (p.Ile527Leu)
c.796A>C (p.Ile266Leu)
c.754A>C (p.Ile252Leu)
c.4111A>C (p.Ile1371Leu)
c.4165A>C (p.Ile1389Leu)
c.4114A>C (p.Ile1372Leu)
c.4162A>C (p.Ile1388Leu)
c.4207A>C (p.Ile1403Leu)
c.4072A>C (p.Ile1358Leu)
c.4204A>C (p.Ile1402Leu)
n.347A>C
n.495A>C
n.996A>C
n.330A>C
n.409A>C
c.4069A>C (p.Ile1357Leu)
n.4365A>C
2g.71611570A>GCA347228642DYSFc.1579A>G (p.Ile527Val)
c.796A>G (p.Ile266Val)
c.754A>G (p.Ile252Val)
c.4111A>G (p.Ile1371Val)
c.4165A>G (p.Ile1389Val)
c.4114A>G (p.Ile1372Val)
c.4162A>G (p.Ile1388Val)
c.4207A>G (p.Ile1403Val)
c.4072A>G (p.Ile1358Val)
c.4204A>G (p.Ile1402Val)
n.347A>G
n.495A>G
n.996A>G
n.330A>G
n.409A>G
c.4069A>G (p.Ile1357Val)
n.4365A>G
2g.71611570A>TCA347228644DYSFc.1579A>T (p.Ile527Phe)
c.796A>T (p.Ile266Phe)
c.754A>T (p.Ile252Phe)
c.4111A>T (p.Ile1371Phe)
c.4165A>T (p.Ile1389Phe)
c.4114A>T (p.Ile1372Phe)
c.4162A>T (p.Ile1388Phe)
c.4207A>T (p.Ile1403Phe)
c.4072A>T (p.Ile1358Phe)
c.4204A>T (p.Ile1402Phe)
n.347A>T
n.495A>T
n.996A>T
n.330A>T
n.409A>T
c.4069A>T (p.Ile1357Phe)
n.4365A>T
2g.71611571T>ACA347228650DYSFc.1580T>A (p.Ile527Asn)
c.797T>A (p.Ile266Asn)
c.755T>A (p.Ile252Asn)
c.4112T>A (p.Ile1371Asn)
c.4166T>A (p.Ile1389Asn)
c.4115T>A (p.Ile1372Asn)
c.4163T>A (p.Ile1388Asn)
c.4208T>A (p.Ile1403Asn)
c.4073T>A (p.Ile1358Asn)
c.4205T>A (p.Ile1402Asn)
n.348T>A
n.496T>A
n.997T>A
n.331T>A
n.410T>A
c.4070T>A (p.Ile1357Asn)
n.4366T>A
2g.71611571T>CCA347228649DYSFc.1580T>C (p.Ile527Thr)
c.797T>C (p.Ile266Thr)
c.755T>C (p.Ile252Thr)
c.4112T>C (p.Ile1371Thr)
c.4166T>C (p.Ile1389Thr)
c.4115T>C (p.Ile1372Thr)
c.4163T>C (p.Ile1388Thr)
c.4208T>C (p.Ile1403Thr)
c.4073T>C (p.Ile1358Thr)
c.4205T>C (p.Ile1402Thr)
n.348T>C
n.496T>C
n.997T>C
n.331T>C
n.410T>C
c.4070T>C (p.Ile1357Thr)
n.4366T>C
2g.71611571T>GCA347228648DYSFc.1580T>G (p.Ile527Ser)
c.797T>G (p.Ile266Ser)
c.755T>G (p.Ile252Ser)
c.4112T>G (p.Ile1371Ser)
c.4166T>G (p.Ile1389Ser)
c.4115T>G (p.Ile1372Ser)
c.4163T>G (p.Ile1388Ser)
c.4208T>G (p.Ile1403Ser)
c.4073T>G (p.Ile1358Ser)
c.4205T>G (p.Ile1402Ser)
n.348T>G
n.496T>G
n.997T>G
n.331T>G
n.410T>G
c.4070T>G (p.Ile1357Ser)
n.4366T>G
2g.71611572C>ACA426758726DYSFc.1581C>A (p.Ile527=)
c.798C>A (p.Ile266=)
c.756C>A (p.Ile252=)
c.4113C>A (p.Ile1371=)
c.4167C>A (p.Ile1389=)
c.4116C>A (p.Ile1372=)
c.4164C>A (p.Ile1388=)
c.4209C>A (p.Ile1403=)
c.4074C>A (p.Ile1358=)
c.4206C>A (p.Ile1402=)
n.349C>A
n.497C>A
n.998C>A
n.332C>A
n.411C>A
c.4071C>A (p.Ile1357=)
n.4367C>A
2g.71611572C>GCA347228652DYSFc.1581C>G (p.Ile527Met)
c.798C>G (p.Ile266Met)
c.756C>G (p.Ile252Met)
c.4113C>G (p.Ile1371Met)
c.4167C>G (p.Ile1389Met)
c.4116C>G (p.Ile1372Met)
c.4164C>G (p.Ile1388Met)
c.4209C>G (p.Ile1403Met)
c.4074C>G (p.Ile1358Met)
c.4206C>G (p.Ile1402Met)
n.349C>G
n.497C>G
n.998C>G
n.332C>G
n.411C>G
c.4071C>G (p.Ile1357Met)
n.4367C>G
2g.71611572C>TCA426758728DYSFc.1581C>T (p.Ile527=)
c.798C>T (p.Ile266=)
c.756C>T (p.Ile252=)
c.4113C>T (p.Ile1371=)
c.4167C>T (p.Ile1389=)
c.4116C>T (p.Ile1372=)
c.4164C>T (p.Ile1388=)
c.4209C>T (p.Ile1403=)
c.4074C>T (p.Ile1358=)
c.4206C>T (p.Ile1402=)
n.349C>T
n.497C>T
n.998C>T
n.332C>T
n.411C>T
c.4071C>T (p.Ile1357=)
n.4367C>T
 ClinVar dbSNP gnomAD v4
2g.71611573A=CA1260124175DYSFc.1582A= (p.Arg528=)
c.799A= (p.Arg267=)
c.757A= (p.Arg253=)
c.4114A= (p.Arg1372=)
c.4168A= (p.Arg1390=)
c.4117A= (p.Arg1373=)
c.4165A= (p.Arg1389=)
c.4210A= (p.Arg1404=)
c.4075A= (p.Arg1359=)
c.4207A= (p.Arg1403=)
n.350A=
n.498A=
n.999A=
n.333A=
n.412A=
c.4072A= (p.Arg1358=)
n.4368A=
2g.71611573A>CCA426758729DYSFc.1582A>C (p.Arg528=)
c.799A>C (p.Arg267=)
c.757A>C (p.Arg253=)
c.4114A>C (p.Arg1372=)
c.4168A>C (p.Arg1390=)
c.4117A>C (p.Arg1373=)
c.4165A>C (p.Arg1389=)
c.4210A>C (p.Arg1404=)
c.4075A>C (p.Arg1359=)
c.4207A>C (p.Arg1403=)
n.350A>C
n.498A>C
n.999A>C
n.333A>C
n.412A>C
c.4072A>C (p.Arg1358=)
n.4368A>C
2g.71611573A>GCA49779081DYSFc.1582A>G (p.Arg528Gly)
c.799A>G (p.Arg267Gly)
c.757A>G (p.Arg253Gly)
c.4114A>G (p.Arg1372Gly)
c.4168A>G (p.Arg1390Gly)
c.4117A>G (p.Arg1373Gly)
c.4165A>G (p.Arg1389Gly)
c.4210A>G (p.Arg1404Gly)
c.4075A>G (p.Arg1359Gly)
c.4207A>G (p.Arg1403Gly)
n.350A>G
n.498A>G
n.999A>G
n.333A>G
n.412A>G
c.4072A>G (p.Arg1358Gly)
n.4368A>G
 dbSNP
2g.71611573A>TCA347228655DYSFc.1582A>T (p.Arg528Trp)
c.799A>T (p.Arg267Trp)
c.757A>T (p.Arg253Trp)
c.4114A>T (p.Arg1372Trp)
c.4168A>T (p.Arg1390Trp)
c.4117A>T (p.Arg1373Trp)
c.4165A>T (p.Arg1389Trp)
c.4210A>T (p.Arg1404Trp)
c.4075A>T (p.Arg1359Trp)
c.4207A>T (p.Arg1403Trp)
n.350A>T
n.498A>T
n.999A>T
n.333A>T
n.412A>T
c.4072A>T (p.Arg1358Trp)
n.4368A>T
2g.71611574G>ACA347228661DYSFc.1583G>A (p.Arg528Lys)
c.800G>A (p.Arg267Lys)
c.758G>A (p.Arg253Lys)
c.4115G>A (p.Arg1372Lys)
c.4169G>A (p.Arg1390Lys)
c.4118G>A (p.Arg1373Lys)
c.4166G>A (p.Arg1389Lys)
c.4211G>A (p.Arg1404Lys)
c.4076G>A (p.Arg1359Lys)
c.4208G>A (p.Arg1403Lys)
n.351G>A
n.499G>A
n.1000G>A
n.334G>A
n.413G>A
c.4073G>A (p.Arg1358Lys)
n.4369G>A
2g.71611574G>CCA347228663DYSFc.1583G>C (p.Arg528Thr)
c.800G>C (p.Arg267Thr)
c.758G>C (p.Arg253Thr)
c.4115G>C (p.Arg1372Thr)
c.4169G>C (p.Arg1390Thr)
c.4118G>C (p.Arg1373Thr)
c.4166G>C (p.Arg1389Thr)
c.4211G>C (p.Arg1404Thr)
c.4076G>C (p.Arg1359Thr)
c.4208G>C (p.Arg1403Thr)
n.351G>C
n.499G>C
n.1000G>C
n.334G>C
n.413G>C
c.4073G>C (p.Arg1358Thr)
n.4369G>C
2g.71611574G>TCA347228665DYSFc.1583G>T (p.Arg528Met)
c.800G>T (p.Arg267Met)
c.758G>T (p.Arg253Met)
c.4115G>T (p.Arg1372Met)
c.4169G>T (p.Arg1390Met)
c.4118G>T (p.Arg1373Met)
c.4166G>T (p.Arg1389Met)
c.4211G>T (p.Arg1404Met)
c.4076G>T (p.Arg1359Met)
c.4208G>T (p.Arg1403Met)
n.351G>T
n.499G>T
n.1000G>T
n.334G>T
n.413G>T
c.4073G>T (p.Arg1358Met)
n.4369G>T
2g.71611575G>ACA1706910DYSFc.1584G>A (p.Arg528=)
c.801G>A (p.Arg267=)
c.759G>A (p.Arg253=)
c.4116G>A (p.Arg1372=)
c.4170G>A (p.Arg1390=)
c.4119G>A (p.Arg1373=)
c.4167G>A (p.Arg1389=)
c.4212G>A (p.Arg1404=)
c.4077G>A (p.Arg1359=)
c.4209G>A (p.Arg1403=)
n.352G>A
n.500G>A
n.1001G>A
n.335G>A
n.414G>A
c.4074G>A (p.Arg1358=)
n.4370G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611575G>CCA1706909DYSFc.1584G>C (p.Arg528Ser)
c.801G>C (p.Arg267Ser)
c.759G>C (p.Arg253Ser)
c.4116G>C (p.Arg1372Ser)
c.4170G>C (p.Arg1390Ser)
c.4119G>C (p.Arg1373Ser)
c.4167G>C (p.Arg1389Ser)
c.4212G>C (p.Arg1404Ser)
c.4077G>C (p.Arg1359Ser)
c.4209G>C (p.Arg1403Ser)
n.352G>C
n.500G>C
n.1001G>C
n.335G>C
n.414G>C
c.4074G>C (p.Arg1358Ser)
n.4370G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611575G=CA1260124176DYSFc.1584G= (p.Arg528=)
c.801G= (p.Arg267=)
c.759G= (p.Arg253=)
c.4116G= (p.Arg1372=)
c.4170G= (p.Arg1390=)
c.4119G= (p.Arg1373=)
c.4167G= (p.Arg1389=)
c.4212G= (p.Arg1404=)
c.4077G= (p.Arg1359=)
c.4209G= (p.Arg1403=)
n.352G=
n.500G=
n.1001G=
n.335G=
n.414G=
c.4074G= (p.Arg1358=)
n.4370G=
2g.71611575G>TCA347228671DYSFc.1584G>T (p.Arg528Ser)
c.801G>T (p.Arg267Ser)
c.759G>T (p.Arg253Ser)
c.4116G>T (p.Arg1372Ser)
c.4170G>T (p.Arg1390Ser)
c.4119G>T (p.Arg1373Ser)
c.4167G>T (p.Arg1389Ser)
c.4212G>T (p.Arg1404Ser)
c.4077G>T (p.Arg1359Ser)
c.4209G>T (p.Arg1403Ser)
n.352G>T
n.500G>T
n.1001G>T
n.335G>T
n.414G>T
c.4074G>T (p.Arg1358Ser)
n.4370G>T
 gnomAD v4
2g.71611576A>CCA347228674DYSFc.1585A>C (p.Asn529His)
c.802A>C (p.Asn268His)
c.760A>C (p.Asn254His)
c.4117A>C (p.Asn1373His)
c.4171A>C (p.Asn1391His)
c.4120A>C (p.Asn1374His)
c.4168A>C (p.Asn1390His)
c.4213A>C (p.Asn1405His)
c.4078A>C (p.Asn1360His)
c.4210A>C (p.Asn1404His)
n.353A>C
n.501A>C
n.1002A>C
n.336A>C
n.415A>C
c.4075A>C (p.Asn1359His)
n.4371A>C
 gnomAD v4
2g.71611576A>GCA347228677DYSFc.1585A>G (p.Asn529Asp)
c.802A>G (p.Asn268Asp)
c.760A>G (p.Asn254Asp)
c.4117A>G (p.Asn1373Asp)
c.4171A>G (p.Asn1391Asp)
c.4120A>G (p.Asn1374Asp)
c.4168A>G (p.Asn1390Asp)
c.4213A>G (p.Asn1405Asp)
c.4078A>G (p.Asn1360Asp)
c.4210A>G (p.Asn1404Asp)
n.353A>G
n.501A>G
n.1002A>G
n.336A>G
n.415A>G
c.4075A>G (p.Asn1359Asp)
n.4371A>G
2g.71611576A>TCA347228680DYSFc.1585A>T (p.Asn529Tyr)
c.802A>T (p.Asn268Tyr)
c.760A>T (p.Asn254Tyr)
c.4117A>T (p.Asn1373Tyr)
c.4171A>T (p.Asn1391Tyr)
c.4120A>T (p.Asn1374Tyr)
c.4168A>T (p.Asn1390Tyr)
c.4213A>T (p.Asn1405Tyr)
c.4078A>T (p.Asn1360Tyr)
c.4210A>T (p.Asn1404Tyr)
n.353A>T
n.501A>T
n.1002A>T
n.336A>T
n.415A>T
c.4075A>T (p.Asn1359Tyr)
n.4371A>T
2g.71611577A>CCA347228684DYSFc.1586A>C (p.Asn529Thr)
c.803A>C (p.Asn268Thr)
c.761A>C (p.Asn254Thr)
c.4118A>C (p.Asn1373Thr)
c.4172A>C (p.Asn1391Thr)
c.4121A>C (p.Asn1374Thr)
c.4169A>C (p.Asn1390Thr)
c.4214A>C (p.Asn1405Thr)
c.4079A>C (p.Asn1360Thr)
c.4211A>C (p.Asn1404Thr)
n.354A>C
n.502A>C
n.1003A>C
n.337A>C
n.416A>C
c.4076A>C (p.Asn1359Thr)
n.4372A>C
2g.71611577A>GCA347228685DYSFc.1586A>G (p.Asn529Ser)
c.803A>G (p.Asn268Ser)
c.761A>G (p.Asn254Ser)
c.4118A>G (p.Asn1373Ser)
c.4172A>G (p.Asn1391Ser)
c.4121A>G (p.Asn1374Ser)
c.4169A>G (p.Asn1390Ser)
c.4214A>G (p.Asn1405Ser)
c.4079A>G (p.Asn1360Ser)
c.4211A>G (p.Asn1404Ser)
n.354A>G
n.502A>G
n.1003A>G
n.337A>G
n.416A>G
c.4076A>G (p.Asn1359Ser)
n.4372A>G
 gnomAD v4
2g.71611577A>TCA347228689DYSFc.1586A>T (p.Asn529Ile)
c.803A>T (p.Asn268Ile)
c.761A>T (p.Asn254Ile)
c.4118A>T (p.Asn1373Ile)
c.4172A>T (p.Asn1391Ile)
c.4121A>T (p.Asn1374Ile)
c.4169A>T (p.Asn1390Ile)
c.4214A>T (p.Asn1405Ile)
c.4079A>T (p.Asn1360Ile)
c.4211A>T (p.Asn1404Ile)
n.354A>T
n.502A>T
n.1003A>T
n.337A>T
n.416A>T
c.4076A>T (p.Asn1359Ile)
n.4372A>T
 gnomAD v4
2g.71611578C>ACA49779104DYSFc.1587C>A (p.Asn529Lys)
c.804C>A (p.Asn268Lys)
c.762C>A (p.Asn254Lys)
c.4119C>A (p.Asn1373Lys)
c.4173C>A (p.Asn1391Lys)
c.4122C>A (p.Asn1374Lys)
c.4170C>A (p.Asn1390Lys)
c.4215C>A (p.Asn1405Lys)
c.4080C>A (p.Asn1360Lys)
c.4212C>A (p.Asn1404Lys)
n.355C>A
n.503C>A
n.1004C>A
n.338C>A
n.417C>A
c.4077C>A (p.Asn1359Lys)
n.4373C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71611578C=CA1260124177DYSFc.1587C= (p.Asn529=)
c.804C= (p.Asn268=)
c.762C= (p.Asn254=)
c.4119C= (p.Asn1373=)
c.4173C= (p.Asn1391=)
c.4122C= (p.Asn1374=)
c.4170C= (p.Asn1390=)
c.4215C= (p.Asn1405=)
c.4080C= (p.Asn1360=)
c.4212C= (p.Asn1404=)
n.355C=
n.503C=
n.1004C=
n.338C=
n.417C=
c.4077C= (p.Asn1359=)
n.4373C=
2g.71611578C>GCA347228694DYSFc.1587C>G (p.Asn529Lys)
c.804C>G (p.Asn268Lys)
c.762C>G (p.Asn254Lys)
c.4119C>G (p.Asn1373Lys)
c.4173C>G (p.Asn1391Lys)
c.4122C>G (p.Asn1374Lys)
c.4170C>G (p.Asn1390Lys)
c.4215C>G (p.Asn1405Lys)
c.4080C>G (p.Asn1360Lys)
c.4212C>G (p.Asn1404Lys)
n.355C>G
n.503C>G
n.1004C>G
n.338C>G
n.417C>G
c.4077C>G (p.Asn1359Lys)
n.4373C>G
2g.71611578C>TCA426758755DYSFc.1587C>T (p.Asn529=)
c.804C>T (p.Asn268=)
c.762C>T (p.Asn254=)
c.4119C>T (p.Asn1373=)
c.4173C>T (p.Asn1391=)
c.4122C>T (p.Asn1374=)
c.4170C>T (p.Asn1390=)
c.4215C>T (p.Asn1405=)
c.4080C>T (p.Asn1360=)
c.4212C>T (p.Asn1404=)
n.355C>T
n.503C>T
n.1004C>T
n.338C>T
n.417C>T
c.4077C>T (p.Asn1359=)
n.4373C>T
 gnomAD v4 COSMIC COSMIC
2g.71611579C>ACA347228697DYSFc.1588C>A (p.Leu530Ile)
c.805C>A (p.Leu269Ile)
c.763C>A (p.Leu255Ile)
c.4120C>A (p.Leu1374Ile)
c.4174C>A (p.Leu1392Ile)
c.4123C>A (p.Leu1375Ile)
c.4171C>A (p.Leu1391Ile)
c.4216C>A (p.Leu1406Ile)
c.4081C>A (p.Leu1361Ile)
c.4213C>A (p.Leu1405Ile)
n.356C>A
n.504C>A
n.1005C>A
n.339C>A
n.418C>A
c.4078C>A (p.Leu1360Ile)
n.4374C>A
2g.71611579C>GCA347228699DYSFc.1588C>G (p.Leu530Val)
c.805C>G (p.Leu269Val)
c.763C>G (p.Leu255Val)
c.4120C>G (p.Leu1374Val)
c.4174C>G (p.Leu1392Val)
c.4123C>G (p.Leu1375Val)
c.4171C>G (p.Leu1391Val)
c.4216C>G (p.Leu1406Val)
c.4081C>G (p.Leu1361Val)
c.4213C>G (p.Leu1405Val)
n.356C>G
n.504C>G
n.1005C>G
n.339C>G
n.418C>G
c.4078C>G (p.Leu1360Val)
n.4374C>G
2g.71611579C>TCA347228701DYSFc.1588C>T (p.Leu530Phe)
c.805C>T (p.Leu269Phe)
c.763C>T (p.Leu255Phe)
c.4120C>T (p.Leu1374Phe)
c.4174C>T (p.Leu1392Phe)
c.4123C>T (p.Leu1375Phe)
c.4171C>T (p.Leu1391Phe)
c.4216C>T (p.Leu1406Phe)
c.4081C>T (p.Leu1361Phe)
c.4213C>T (p.Leu1405Phe)
n.356C>T
n.504C>T
n.1005C>T
n.339C>T
n.418C>T
c.4078C>T (p.Leu1360Phe)
n.4374C>T
2g.71611580T>ACA347228705DYSFc.1589T>A (p.Leu530His)
c.806T>A (p.Leu269His)
c.764T>A (p.Leu255His)
c.4121T>A (p.Leu1374His)
c.4175T>A (p.Leu1392His)
c.4124T>A (p.Leu1375His)
c.4172T>A (p.Leu1391His)
c.4217T>A (p.Leu1406His)
c.4082T>A (p.Leu1361His)
c.4214T>A (p.Leu1405His)
n.357T>A
n.505T>A
n.1006T>A
n.340T>A
n.419T>A
c.4079T>A (p.Leu1360His)
n.4375T>A
2g.71611580T>CCA347228708DYSFc.1589T>C (p.Leu530Pro)
c.806T>C (p.Leu269Pro)
c.764T>C (p.Leu255Pro)
c.4121T>C (p.Leu1374Pro)
c.4175T>C (p.Leu1392Pro)
c.4124T>C (p.Leu1375Pro)
c.4172T>C (p.Leu1391Pro)
c.4217T>C (p.Leu1406Pro)
c.4082T>C (p.Leu1361Pro)
c.4214T>C (p.Leu1405Pro)
n.357T>C
n.505T>C
n.1006T>C
n.340T>C
n.419T>C
c.4079T>C (p.Leu1360Pro)
n.4375T>C
2g.71611580T>GCA347228711DYSFc.1589T>G (p.Leu530Arg)
c.806T>G (p.Leu269Arg)
c.764T>G (p.Leu255Arg)
c.4121T>G (p.Leu1374Arg)
c.4175T>G (p.Leu1392Arg)
c.4124T>G (p.Leu1375Arg)
c.4172T>G (p.Leu1391Arg)
c.4217T>G (p.Leu1406Arg)
c.4082T>G (p.Leu1361Arg)
c.4214T>G (p.Leu1405Arg)
n.357T>G
n.505T>G
n.1006T>G
n.340T>G
n.419T>G
c.4079T>G (p.Leu1360Arg)
n.4375T>G
2g.71611581C>ACA426758766DYSFc.1590C>A (p.Leu530=)
c.807C>A (p.Leu269=)
c.765C>A (p.Leu255=)
c.4122C>A (p.Leu1374=)
c.4176C>A (p.Leu1392=)
c.4125C>A (p.Leu1375=)
c.4173C>A (p.Leu1391=)
c.4218C>A (p.Leu1406=)
c.4083C>A (p.Leu1361=)
c.4215C>A (p.Leu1405=)
n.358C>A
n.506C>A
n.1007C>A
n.341C>A
n.420C>A
c.4080C>A (p.Leu1360=)
n.4376C>A
2g.71611581C>GCA426758765DYSFc.1590C>G (p.Leu530=)
c.807C>G (p.Leu269=)
c.765C>G (p.Leu255=)
c.4122C>G (p.Leu1374=)
c.4176C>G (p.Leu1392=)
c.4125C>G (p.Leu1375=)
c.4173C>G (p.Leu1391=)
c.4218C>G (p.Leu1406=)
c.4083C>G (p.Leu1361=)
c.4215C>G (p.Leu1405=)
n.358C>G
n.506C>G
n.1007C>G
n.341C>G
n.420C>G
c.4080C>G (p.Leu1360=)
n.4376C>G
2g.71611581C>TCA426758763DYSFc.1590C>T (p.Leu530=)
c.807C>T (p.Leu269=)
c.765C>T (p.Leu255=)
c.4122C>T (p.Leu1374=)
c.4176C>T (p.Leu1392=)
c.4125C>T (p.Leu1375=)
c.4173C>T (p.Leu1391=)
c.4218C>T (p.Leu1406=)
c.4083C>T (p.Leu1361=)
c.4215C>T (p.Leu1405=)
n.358C>T
n.506C>T
n.1007C>T
n.341C>T
n.420C>T
c.4080C>T (p.Leu1360=)
n.4376C>T
 ClinVar dbSNP gnomAD v4
2g.71611582delCA2499216218DYSFc.1591del (p.Arg531GlyfsTer15)
c.808del (p.Arg270GlyfsTer15)
c.766del (p.Arg256GlyfsTer15)
c.4123del (p.Arg1375GlyfsTer15)
c.4177del (p.Arg1393GlyfsTer15)
c.4126del (p.Arg1376GlyfsTer15)
c.4174del (p.Arg1392GlyfsTer15)
c.4219del (p.Arg1407GlyfsTer15)
c.4084del (p.Arg1362GlyfsTer15)
c.4216del (p.Arg1406GlyfsTer15)
n.359del
n.507del
n.1008del
n.342del
n.421del
c.4081del (p.Arg1361GlyfsTer15)
n.4377del
 ClinVar dbSNP
2g.71611582C>ACA426758767DYSFc.1591C>A (p.Arg531=)
c.808C>A (p.Arg270=)
c.766C>A (p.Arg256=)
c.4123C>A (p.Arg1375=)
c.4177C>A (p.Arg1393=)
c.4126C>A (p.Arg1376=)
c.4174C>A (p.Arg1392=)
c.4219C>A (p.Arg1407=)
c.4084C>A (p.Arg1362=)
c.4216C>A (p.Arg1406=)
n.359C>A
n.507C>A
n.1008C>A
n.342C>A
n.421C>A
c.4081C>A (p.Arg1361=)
n.4377C>A
2g.71611582C=CA1260124179DYSFc.1591C= (p.Arg531=)
c.808C= (p.Arg270=)
c.766C= (p.Arg256=)
c.4123C= (p.Arg1375=)
c.4177C= (p.Arg1393=)
c.4126C= (p.Arg1376=)
c.4174C= (p.Arg1392=)
c.4219C= (p.Arg1407=)
c.4084C= (p.Arg1362=)
c.4216C= (p.Arg1406=)
n.359C=
n.507C=
n.1008C=
n.342C=
n.421C=
c.4081C= (p.Arg1361=)
n.4377C=
2g.71611582C>GCA347228714DYSFc.1591C>G (p.Arg531Gly)
c.808C>G (p.Arg270Gly)
c.766C>G (p.Arg256Gly)
c.4123C>G (p.Arg1375Gly)
c.4177C>G (p.Arg1393Gly)
c.4126C>G (p.Arg1376Gly)
c.4174C>G (p.Arg1392Gly)
c.4219C>G (p.Arg1407Gly)
c.4084C>G (p.Arg1362Gly)
c.4216C>G (p.Arg1406Gly)
n.359C>G
n.507C>G
n.1008C>G
n.342C>G
n.421C>G
c.4081C>G (p.Arg1361Gly)
n.4377C>G
2g.71611582C>TCA1706911DYSFc.1591C>T (p.Arg531Trp)
c.808C>T (p.Arg270Trp)
c.766C>T (p.Arg256Trp)
c.4123C>T (p.Arg1375Trp)
c.4177C>T (p.Arg1393Trp)
c.4126C>T (p.Arg1376Trp)
c.4174C>T (p.Arg1392Trp)
c.4219C>T (p.Arg1407Trp)
c.4084C>T (p.Arg1362Trp)
c.4216C>T (p.Arg1406Trp)
n.359C>T
n.507C>T
n.1008C>T
n.342C>T
n.421C>T
c.4081C>T (p.Arg1361Trp)
n.4377C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611582_71611583delinsCGCA1260124178DYSFc.1591_1592delinsCG (p.Arg531=)
c.808_809delinsCG (p.Arg270=)
c.766_767delinsCG (p.Arg256=)
c.4123_4124delinsCG (p.Arg1375=)
c.4177_4178delinsCG (p.Arg1393=)
c.4126_4127delinsCG (p.Arg1376=)
c.4174_4175delinsCG (p.Arg1392=)
c.4219_4220delinsCG (p.Arg1407=)
c.4084_4085delinsCG (p.Arg1362=)
c.4216_4217delinsCG (p.Arg1406=)
n.359_360delinsCG
n.507_508delinsCG
n.1008_1009delinsCG
n.342_343delinsCG
n.421_422delinsCG
c.4081_4082delinsCG (p.Arg1361=)
n.4377_4378delinsCG
2g.71611583G>ACA1706912DYSFc.1592G>A (p.Arg531Gln)
c.809G>A (p.Arg270Gln)
c.767G>A (p.Arg256Gln)
c.4124G>A (p.Arg1375Gln)
c.4178G>A (p.Arg1393Gln)
c.4127G>A (p.Arg1376Gln)
c.4175G>A (p.Arg1392Gln)
c.4220G>A (p.Arg1407Gln)
c.4085G>A (p.Arg1362Gln)
c.4217G>A (p.Arg1406Gln)
n.360G>A
n.508G>A
n.1009G>A
n.343G>A
n.422G>A
c.4082G>A (p.Arg1361Gln)
n.4378G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611583G>CCA347228720DYSFc.1592G>C (p.Arg531Pro)
c.809G>C (p.Arg270Pro)
c.767G>C (p.Arg256Pro)
c.4124G>C (p.Arg1375Pro)
c.4178G>C (p.Arg1393Pro)
c.4127G>C (p.Arg1376Pro)
c.4175G>C (p.Arg1392Pro)
c.4220G>C (p.Arg1407Pro)
c.4085G>C (p.Arg1362Pro)
c.4217G>C (p.Arg1406Pro)
n.360G>C
n.508G>C
n.1009G>C
n.343G>C
n.422G>C
c.4082G>C (p.Arg1361Pro)
n.4378G>C
2g.71611583G=CA1260124180DYSFc.1592G= (p.Arg531=)
c.809G= (p.Arg270=)
c.767G= (p.Arg256=)
c.4124G= (p.Arg1375=)
c.4178G= (p.Arg1393=)
c.4127G= (p.Arg1376=)
c.4175G= (p.Arg1392=)
c.4220G= (p.Arg1407=)
c.4085G= (p.Arg1362=)
c.4217G= (p.Arg1406=)
n.360G=
n.508G=
n.1009G=
n.343G=
n.422G=
c.4082G= (p.Arg1361=)
n.4378G=
2g.71611583G>TCA347228722DYSFc.1592G>T (p.Arg531Leu)
c.809G>T (p.Arg270Leu)
c.767G>T (p.Arg256Leu)
c.4124G>T (p.Arg1375Leu)
c.4178G>T (p.Arg1393Leu)
c.4127G>T (p.Arg1376Leu)
c.4175G>T (p.Arg1392Leu)
c.4220G>T (p.Arg1407Leu)
c.4085G>T (p.Arg1362Leu)
c.4217G>T (p.Arg1406Leu)
n.360G>T
n.508G>T
n.1009G>T
n.343G>T
n.422G>T
c.4082G>T (p.Arg1361Leu)
n.4378G>T
2g.71611584delCA658820652DYSFc.1593del (p.Lys532ArgfsTer14)
c.810del (p.Lys271ArgfsTer14)
c.768del (p.Lys257ArgfsTer14)
c.4125del (p.Lys1376ArgfsTer14)
c.4179del (p.Lys1394ArgfsTer14)
c.4128del (p.Lys1377ArgfsTer14)
c.4176del (p.Lys1393ArgfsTer14)
c.4221del (p.Lys1408ArgfsTer14)
c.4086del (p.Lys1363ArgfsTer14)
c.4218del (p.Lys1407ArgfsTer14)
n.361del
n.509del
n.1010del
n.344del
n.423del
c.4083del (p.Lys1362ArgfsTer14)
n.4379del
 ClinVar dbSNP
2g.71611584G>ACA426758772DYSFc.1593G>A (p.Arg531=)
c.810G>A (p.Arg270=)
c.768G>A (p.Arg256=)
c.4125G>A (p.Arg1375=)
c.4179G>A (p.Arg1393=)
c.4128G>A (p.Arg1376=)
c.4176G>A (p.Arg1392=)
c.4221G>A (p.Arg1407=)
c.4086G>A (p.Arg1362=)
c.4218G>A (p.Arg1406=)
n.361G>A
n.509G>A
n.1010G>A
n.344G>A
n.423G>A
c.4083G>A (p.Arg1361=)
n.4379G>A
 gnomAD v4
2g.71611584G>CCA426758774DYSFc.1593G>C (p.Arg531=)
c.810G>C (p.Arg270=)
c.768G>C (p.Arg256=)
c.4125G>C (p.Arg1375=)
c.4179G>C (p.Arg1393=)
c.4128G>C (p.Arg1376=)
c.4176G>C (p.Arg1392=)
c.4221G>C (p.Arg1407=)
c.4086G>C (p.Arg1362=)
c.4218G>C (p.Arg1406=)
n.361G>C
n.509G>C
n.1010G>C
n.344G>C
n.423G>C
c.4083G>C (p.Arg1361=)
n.4379G>C
2g.71611584G>TCA426758773DYSFc.1593G>T (p.Arg531=)
c.810G>T (p.Arg270=)
c.768G>T (p.Arg256=)
c.4125G>T (p.Arg1375=)
c.4179G>T (p.Arg1393=)
c.4128G>T (p.Arg1376=)
c.4176G>T (p.Arg1392=)
c.4221G>T (p.Arg1407=)
c.4086G>T (p.Arg1362=)
c.4218G>T (p.Arg1406=)
n.361G>T
n.509G>T
n.1010G>T
n.344G>T
n.423G>T
c.4083G>T (p.Arg1361=)
n.4379G>T
2g.71611585A>CCA347228729DYSFc.1594A>C (p.Lys532Gln)
c.811A>C (p.Lys271Gln)
c.769A>C (p.Lys257Gln)
c.4126A>C (p.Lys1376Gln)
c.4180A>C (p.Lys1394Gln)
c.4129A>C (p.Lys1377Gln)
c.4177A>C (p.Lys1393Gln)
c.4222A>C (p.Lys1408Gln)
c.4087A>C (p.Lys1363Gln)
c.4219A>C (p.Lys1407Gln)
n.362A>C
n.510A>C
n.1011A>C
n.345A>C
n.424A>C
c.4084A>C (p.Lys1362Gln)
n.4380A>C
2g.71611585A>GCA347228731DYSFc.1594A>G (p.Lys532Glu)
c.811A>G (p.Lys271Glu)
c.769A>G (p.Lys257Glu)
c.4126A>G (p.Lys1376Glu)
c.4180A>G (p.Lys1394Glu)
c.4129A>G (p.Lys1377Glu)
c.4177A>G (p.Lys1393Glu)
c.4222A>G (p.Lys1408Glu)
c.4087A>G (p.Lys1363Glu)
c.4219A>G (p.Lys1407Glu)
n.362A>G
n.510A>G
n.1011A>G
n.345A>G
n.424A>G
c.4084A>G (p.Lys1362Glu)
n.4380A>G
2g.71611585A>TCA347228726DYSFc.1594A>T (p.Lys532Ter)
c.811A>T (p.Lys271Ter)
c.769A>T (p.Lys257Ter)
c.4126A>T (p.Lys1376Ter)
c.4180A>T (p.Lys1394Ter)
c.4129A>T (p.Lys1377Ter)
c.4177A>T (p.Lys1393Ter)
c.4222A>T (p.Lys1408Ter)
c.4087A>T (p.Lys1363Ter)
c.4219A>T (p.Lys1407Ter)
n.362A>T
n.510A>T
n.1011A>T
n.345A>T
n.424A>T
c.4084A>T (p.Lys1362Ter)
n.4380A>T
2g.71611586A>CCA347228734DYSFc.1595A>C (p.Lys532Thr)
c.812A>C (p.Lys271Thr)
c.770A>C (p.Lys257Thr)
c.4127A>C (p.Lys1376Thr)
c.4181A>C (p.Lys1394Thr)
c.4130A>C (p.Lys1377Thr)
c.4178A>C (p.Lys1393Thr)
c.4223A>C (p.Lys1408Thr)
c.4088A>C (p.Lys1363Thr)
c.4220A>C (p.Lys1407Thr)
n.363A>C
n.511A>C
n.1012A>C
n.346A>C
n.425A>C
c.4085A>C (p.Lys1362Thr)
n.4381A>C
2g.71611586A>GCA347228737DYSFc.1595A>G (p.Lys532Arg)
c.812A>G (p.Lys271Arg)
c.770A>G (p.Lys257Arg)
c.4127A>G (p.Lys1376Arg)
c.4181A>G (p.Lys1394Arg)
c.4130A>G (p.Lys1377Arg)
c.4178A>G (p.Lys1393Arg)
c.4223A>G (p.Lys1408Arg)
c.4088A>G (p.Lys1363Arg)
c.4220A>G (p.Lys1407Arg)
n.363A>G
n.511A>G
n.1012A>G
n.346A>G
n.425A>G
c.4085A>G (p.Lys1362Arg)
n.4381A>G
2g.71611586A>TCA347228739DYSFc.1595A>T (p.Lys532Met)
c.812A>T (p.Lys271Met)
c.770A>T (p.Lys257Met)
c.4127A>T (p.Lys1376Met)
c.4181A>T (p.Lys1394Met)
c.4130A>T (p.Lys1377Met)
c.4178A>T (p.Lys1393Met)
c.4223A>T (p.Lys1408Met)
c.4088A>T (p.Lys1363Met)
c.4220A>T (p.Lys1407Met)
n.363A>T
n.511A>T
n.1012A>T
n.346A>T
n.425A>T
c.4085A>T (p.Lys1362Met)
n.4381A>T
2g.71611587G>ACA426758779DYSFc.1596G>A (p.Lys532=)
c.813G>A (p.Lys271=)
c.771G>A (p.Lys257=)
c.4128G>A (p.Lys1376=)
c.4182G>A (p.Lys1394=)
c.4131G>A (p.Lys1377=)
c.4179G>A (p.Lys1393=)
c.4224G>A (p.Lys1408=)
c.4089G>A (p.Lys1363=)
c.4221G>A (p.Lys1407=)
n.364G>A
n.512G>A
n.1013G>A
n.347G>A
n.426G>A
c.4086G>A (p.Lys1362=)
n.4382G>A
 gnomAD v4 COSMIC COSMIC
2g.71611587G>CCA347228743DYSFc.1596G>C (p.Lys532Asn)
c.813G>C (p.Lys271Asn)
c.771G>C (p.Lys257Asn)
c.4128G>C (p.Lys1376Asn)
c.4182G>C (p.Lys1394Asn)
c.4131G>C (p.Lys1377Asn)
c.4179G>C (p.Lys1393Asn)
c.4224G>C (p.Lys1408Asn)
c.4089G>C (p.Lys1363Asn)
c.4221G>C (p.Lys1407Asn)
n.364G>C
n.512G>C
n.1013G>C
n.347G>C
n.426G>C
c.4086G>C (p.Lys1362Asn)
n.4382G>C
 dbSNP
2g.71611587G=CA1260124181DYSFc.1596G= (p.Lys532=)
c.813G= (p.Lys271=)
c.771G= (p.Lys257=)
c.4128G= (p.Lys1376=)
c.4182G= (p.Lys1394=)
c.4131G= (p.Lys1377=)
c.4179G= (p.Lys1393=)
c.4224G= (p.Lys1408=)
c.4089G= (p.Lys1363=)
c.4221G= (p.Lys1407=)
n.364G=
n.512G=
n.1013G=
n.347G=
n.426G=
c.4086G= (p.Lys1362=)
n.4382G=
2g.71611587G>TCA347228745DYSFc.1596G>T (p.Lys532Asn)
c.813G>T (p.Lys271Asn)
c.771G>T (p.Lys257Asn)
c.4128G>T (p.Lys1376Asn)
c.4182G>T (p.Lys1394Asn)
c.4131G>T (p.Lys1377Asn)
c.4179G>T (p.Lys1393Asn)
c.4224G>T (p.Lys1408Asn)
c.4089G>T (p.Lys1363Asn)
c.4221G>T (p.Lys1407Asn)
n.364G>T
n.512G>T
n.1013G>T
n.347G>T
n.426G>T
c.4086G>T (p.Lys1362Asn)
n.4382G>T
2g.71611588A>CCA347228749DYSFc.1597A>C (p.Asn533His)
c.814A>C (p.Asn272His)
c.772A>C (p.Asn258His)
c.4129A>C (p.Asn1377His)
c.4183A>C (p.Asn1395His)
c.4132A>C (p.Asn1378His)
c.4180A>C (p.Asn1394His)
c.4225A>C (p.Asn1409His)
c.4090A>C (p.Asn1364His)
c.4222A>C (p.Asn1408His)
n.365A>C
n.513A>C
n.1014A>C
n.348A>C
n.427A>C
c.4087A>C (p.Asn1363His)
n.4383A>C
 gnomAD v4
2g.71611588A>GCA347228751DYSFc.1597A>G (p.Asn533Asp)
c.814A>G (p.Asn272Asp)
c.772A>G (p.Asn258Asp)
c.4129A>G (p.Asn1377Asp)
c.4183A>G (p.Asn1395Asp)
c.4132A>G (p.Asn1378Asp)
c.4180A>G (p.Asn1394Asp)
c.4225A>G (p.Asn1409Asp)
c.4090A>G (p.Asn1364Asp)
c.4222A>G (p.Asn1408Asp)
n.365A>G
n.513A>G
n.1014A>G
n.348A>G
n.427A>G
c.4087A>G (p.Asn1363Asp)
n.4383A>G
2g.71611588A>TCA347228753DYSFc.1597A>T (p.Asn533Tyr)
c.814A>T (p.Asn272Tyr)
c.772A>T (p.Asn258Tyr)
c.4129A>T (p.Asn1377Tyr)
c.4183A>T (p.Asn1395Tyr)
c.4132A>T (p.Asn1378Tyr)
c.4180A>T (p.Asn1394Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4090A>T (p.Asn1364Tyr)
c.4222A>T (p.Asn1408Tyr)
n.365A>T
n.513A>T
n.1014A>T
n.348A>T
n.427A>T
c.4087A>T (p.Asn1363Tyr)
n.4383A>T
2g.71611589A>CCA347228757DYSFc.1598A>C (p.Asn533Thr)
c.815A>C (p.Asn272Thr)
c.773A>C (p.Asn258Thr)
c.4130A>C (p.Asn1377Thr)
c.4184A>C (p.Asn1395Thr)
c.4133A>C (p.Asn1378Thr)
c.4181A>C (p.Asn1394Thr)
c.4226A>C (p.Asn1409Thr)
c.4091A>C (p.Asn1364Thr)
c.4223A>C (p.Asn1408Thr)
n.366A>C
n.514A>C
n.1015A>C
n.349A>C
n.428A>C
c.4088A>C (p.Asn1363Thr)
n.4384A>C
2g.71611589A>GCA347228759DYSFc.1598A>G (p.Asn533Ser)
c.815A>G (p.Asn272Ser)
c.773A>G (p.Asn258Ser)
c.4130A>G (p.Asn1377Ser)
c.4184A>G (p.Asn1395Ser)
c.4133A>G (p.Asn1378Ser)
c.4181A>G (p.Asn1394Ser)
c.4226A>G (p.Asn1409Ser)
c.4091A>G (p.Asn1364Ser)
c.4223A>G (p.Asn1408Ser)
n.366A>G
n.514A>G
n.1015A>G
n.349A>G
n.428A>G
c.4088A>G (p.Asn1363Ser)
n.4384A>G
 gnomAD v4
2g.71611589A>TCA347228761DYSFc.1598A>T (p.Asn533Ile)
c.815A>T (p.Asn272Ile)
c.773A>T (p.Asn258Ile)
c.4130A>T (p.Asn1377Ile)
c.4184A>T (p.Asn1395Ile)
c.4133A>T (p.Asn1378Ile)
c.4181A>T (p.Asn1394Ile)
c.4226A>T (p.Asn1409Ile)
c.4091A>T (p.Asn1364Ile)
c.4223A>T (p.Asn1408Ile)
n.366A>T
n.514A>T
n.1015A>T
n.349A>T
n.428A>T
c.4088A>T (p.Asn1363Ile)
n.4384A>T
2g.71611590C>ACA1706913DYSFc.1599C>A (p.Asn533Lys)
c.816C>A (p.Asn272Lys)
c.774C>A (p.Asn258Lys)
c.4131C>A (p.Asn1377Lys)
c.4185C>A (p.Asn1395Lys)
c.4134C>A (p.Asn1378Lys)
c.4182C>A (p.Asn1394Lys)
c.4227C>A (p.Asn1409Lys)
c.4092C>A (p.Asn1364Lys)
c.4224C>A (p.Asn1408Lys)
n.367C>A
n.515C>A
n.1016C>A
n.350C>A
n.429C>A
c.4089C>A (p.Asn1363Lys)
n.4385C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611590C=CA1260124182DYSFc.1599C= (p.Asn533=)
c.816C= (p.Asn272=)
c.774C= (p.Asn258=)
c.4131C= (p.Asn1377=)
c.4185C= (p.Asn1395=)
c.4134C= (p.Asn1378=)
c.4182C= (p.Asn1394=)
c.4227C= (p.Asn1409=)
c.4092C= (p.Asn1364=)
c.4224C= (p.Asn1408=)
n.367C=
n.515C=
n.1016C=
n.350C=
n.429C=
c.4089C= (p.Asn1363=)
n.4385C=
2g.71611590C>GCA347228766DYSFc.1599C>G (p.Asn533Lys)
c.816C>G (p.Asn272Lys)
c.774C>G (p.Asn258Lys)
c.4131C>G (p.Asn1377Lys)
c.4185C>G (p.Asn1395Lys)
c.4134C>G (p.Asn1378Lys)
c.4182C>G (p.Asn1394Lys)
c.4227C>G (p.Asn1409Lys)
c.4092C>G (p.Asn1364Lys)
c.4224C>G (p.Asn1408Lys)
n.367C>G
n.515C>G
n.1016C>G
n.350C>G
n.429C>G
c.4089C>G (p.Asn1363Lys)
n.4385C>G
2g.71611590C>TCA426758784DYSFc.1599C>T (p.Asn533=)
c.816C>T (p.Asn272=)
c.774C>T (p.Asn258=)
c.4131C>T (p.Asn1377=)
c.4185C>T (p.Asn1395=)
c.4134C>T (p.Asn1378=)
c.4182C>T (p.Asn1394=)
c.4227C>T (p.Asn1409=)
c.4092C>T (p.Asn1364=)
c.4224C>T (p.Asn1408=)
n.367C>T
n.515C>T
n.1016C>T
n.350C>T
n.429C>T
c.4089C>T (p.Asn1363=)
n.4385C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71611593delCA2697548251DYSFc.1602del (p.Asn535ThrfsTer11)
c.819del (p.Asn274ThrfsTer11)
c.777del (p.Asn260ThrfsTer11)
c.4134del (p.Asn1379ThrfsTer11)
c.4188del (p.Asn1397ThrfsTer11)
c.4137del (p.Asn1380ThrfsTer11)
c.4185del (p.Asn1396ThrfsTer11)
c.4230del (p.Asn1411ThrfsTer11)
c.4095del (p.Asn1366ThrfsTer11)
c.4227del (p.Asn1410ThrfsTer11)
n.370del
n.518del
n.1019del
n.353del
n.432del
c.4092del (p.Asn1365ThrfsTer11)
n.4388del
 ClinVar
2g.71611591C>ACA347228774DYSFc.1600C>A (p.Pro534Thr)
c.817C>A (p.Pro273Thr)
c.775C>A (p.Pro259Thr)
c.4132C>A (p.Pro1378Thr)
c.4186C>A (p.Pro1396Thr)
c.4135C>A (p.Pro1379Thr)
c.4183C>A (p.Pro1395Thr)
c.4228C>A (p.Pro1410Thr)
c.4093C>A (p.Pro1365Thr)
c.4225C>A (p.Pro1409Thr)
n.368C>A
n.516C>A
n.1017C>A
n.351C>A
n.430C>A
c.4090C>A (p.Pro1364Thr)
n.4386C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71611591C=CA1260124183DYSFc.1600C= (p.Pro534=)
c.817C= (p.Pro273=)
c.775C= (p.Pro259=)
c.4132C= (p.Pro1378=)
c.4186C= (p.Pro1396=)
c.4135C= (p.Pro1379=)
c.4183C= (p.Pro1395=)
c.4228C= (p.Pro1410=)
c.4093C= (p.Pro1365=)
c.4225C= (p.Pro1409=)
n.368C=
n.516C=
n.1017C=
n.351C=
n.430C=
c.4090C= (p.Pro1364=)
n.4386C=
2g.71611591C>GCA347228771DYSFc.1600C>G (p.Pro534Ala)
c.817C>G (p.Pro273Ala)
c.775C>G (p.Pro259Ala)
c.4132C>G (p.Pro1378Ala)
c.4186C>G (p.Pro1396Ala)
c.4135C>G (p.Pro1379Ala)
c.4183C>G (p.Pro1395Ala)
c.4228C>G (p.Pro1410Ala)
c.4093C>G (p.Pro1365Ala)
c.4225C>G (p.Pro1409Ala)
n.368C>G
n.516C>G
n.1017C>G
n.351C>G
n.430C>G
c.4090C>G (p.Pro1364Ala)
n.4386C>G
2g.71611591C>TCA347228770DYSFc.1600C>T (p.Pro534Ser)
c.817C>T (p.Pro273Ser)
c.775C>T (p.Pro259Ser)
c.4132C>T (p.Pro1378Ser)
c.4186C>T (p.Pro1396Ser)
c.4135C>T (p.Pro1379Ser)
c.4183C>T (p.Pro1395Ser)
c.4228C>T (p.Pro1410Ser)
c.4093C>T (p.Pro1365Ser)
c.4225C>T (p.Pro1409Ser)
n.368C>T
n.516C>T
n.1017C>T
n.351C>T
n.430C>T
c.4090C>T (p.Pro1364Ser)
n.4386C>T
 dbSNP COSMIC COSMIC
2g.71611592C>ACA347228776DYSFc.1601C>A (p.Pro534His)
c.818C>A (p.Pro273His)
c.776C>A (p.Pro259His)
c.4133C>A (p.Pro1378His)
c.4187C>A (p.Pro1396His)
c.4136C>A (p.Pro1379His)
c.4184C>A (p.Pro1395His)
c.4229C>A (p.Pro1410His)
c.4094C>A (p.Pro1365His)
c.4226C>A (p.Pro1409His)
n.369C>A
n.517C>A
n.1018C>A
n.352C>A
n.431C>A
c.4091C>A (p.Pro1364His)
n.4387C>A
2g.71611592C>GCA347228779DYSFc.1601C>G (p.Pro534Arg)
c.818C>G (p.Pro273Arg)
c.776C>G (p.Pro259Arg)
c.4133C>G (p.Pro1378Arg)
c.4187C>G (p.Pro1396Arg)
c.4136C>G (p.Pro1379Arg)
c.4184C>G (p.Pro1395Arg)
c.4229C>G (p.Pro1410Arg)
c.4094C>G (p.Pro1365Arg)
c.4226C>G (p.Pro1409Arg)
n.369C>G
n.517C>G
n.1018C>G
n.352C>G
n.431C>G
c.4091C>G (p.Pro1364Arg)
n.4387C>G
2g.71611592C>TCA347228781DYSFc.1601C>T (p.Pro534Leu)
c.818C>T (p.Pro273Leu)
c.776C>T (p.Pro259Leu)
c.4133C>T (p.Pro1378Leu)
c.4187C>T (p.Pro1396Leu)
c.4136C>T (p.Pro1379Leu)
c.4184C>T (p.Pro1395Leu)
c.4229C>T (p.Pro1410Leu)
c.4094C>T (p.Pro1365Leu)
c.4226C>T (p.Pro1409Leu)
n.369C>T
n.517C>T
n.1018C>T
n.352C>T
n.431C>T
c.4091C>T (p.Pro1364Leu)
n.4387C>T
 COSMIC COSMIC
2g.71611593C>ACA426758787DYSFc.1602C>A (p.Pro534=)
c.819C>A (p.Pro273=)
c.777C>A (p.Pro259=)
c.4134C>A (p.Pro1378=)
c.4188C>A (p.Pro1396=)
c.4137C>A (p.Pro1379=)
c.4185C>A (p.Pro1395=)
c.4230C>A (p.Pro1410=)
c.4095C>A (p.Pro1365=)
c.4227C>A (p.Pro1409=)
n.370C>A
n.518C>A
n.1019C>A
n.353C>A
n.432C>A
c.4092C>A (p.Pro1364=)
n.4388C>A
2g.71611593C=CA1260124184DYSFc.1602C= (p.Pro534=)
c.819C= (p.Pro273=)
c.777C= (p.Pro259=)
c.4134C= (p.Pro1378=)
c.4188C= (p.Pro1396=)
c.4137C= (p.Pro1379=)
c.4185C= (p.Pro1395=)
c.4230C= (p.Pro1410=)
c.4095C= (p.Pro1365=)
c.4227C= (p.Pro1409=)
n.370C=
n.518C=
n.1019C=
n.353C=
n.432C=
c.4092C= (p.Pro1364=)
n.4388C=
2g.71611593C>GCA426758788DYSFc.1602C>G (p.Pro534=)
c.819C>G (p.Pro273=)
c.777C>G (p.Pro259=)
c.4134C>G (p.Pro1378=)
c.4188C>G (p.Pro1396=)
c.4137C>G (p.Pro1379=)
c.4185C>G (p.Pro1395=)
c.4230C>G (p.Pro1410=)
c.4095C>G (p.Pro1365=)
c.4227C>G (p.Pro1409=)
n.370C>G
n.518C>G
n.1019C>G
n.353C>G
n.432C>G
c.4092C>G (p.Pro1364=)
n.4388C>G
2g.71611593C>TCA1706914DYSFc.1602C>T (p.Pro534=)
c.819C>T (p.Pro273=)
c.777C>T (p.Pro259=)
c.4134C>T (p.Pro1378=)
c.4188C>T (p.Pro1396=)
c.4137C>T (p.Pro1379=)
c.4185C>T (p.Pro1395=)
c.4230C>T (p.Pro1410=)
c.4095C>T (p.Pro1365=)
c.4227C>T (p.Pro1409=)
n.370C>T
n.518C>T
n.1019C>T
n.353C>T
n.432C>T
c.4092C>T (p.Pro1364=)
n.4388C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71611594A>CCA347228786DYSFc.1603A>C (p.Asn535His)
c.820A>C (p.Asn274His)
c.778A>C (p.Asn260His)
c.4135A>C (p.Asn1379His)
c.4189A>C (p.Asn1397His)
c.4138A>C (p.Asn1380His)
c.4186A>C (p.Asn1396His)
c.4231A>C (p.Asn1411His)
c.4096A>C (p.Asn1366His)
c.4228A>C (p.Asn1410His)
n.371A>C
n.519A>C
n.1020A>C
n.354A>C
n.433A>C
c.4093A>C (p.Asn1365His)
n.4389A>C
2g.71611594A>GCA347228787DYSFc.1603A>G (p.Asn535Asp)
c.820A>G (p.Asn274Asp)
c.778A>G (p.Asn260Asp)
c.4135A>G (p.Asn1379Asp)
c.4189A>G (p.Asn1397Asp)
c.4138A>G (p.Asn1380Asp)
c.4186A>G (p.Asn1396Asp)
c.4231A>G (p.Asn1411Asp)
c.4096A>G (p.Asn1366Asp)
c.4228A>G (p.Asn1410Asp)
n.371A>G
n.519A>G
n.1020A>G
n.354A>G
n.433A>G
c.4093A>G (p.Asn1365Asp)
n.4389A>G
 gnomAD v4
2g.71611594A>TCA347228790DYSFc.1603A>T (p.Asn535Tyr)
c.820A>T (p.Asn274Tyr)
c.778A>T (p.Asn260Tyr)
c.4135A>T (p.Asn1379Tyr)
c.4189A>T (p.Asn1397Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4186A>T (p.Asn1396Tyr)
c.4231A>T (p.Asn1411Tyr)
c.4096A>T (p.Asn1366Tyr)
c.4228A>T (p.Asn1410Tyr)
n.371A>T
n.519A>T
n.1020A>T
n.354A>T
n.433A>T
c.4093A>T (p.Asn1365Tyr)
n.4389A>T
2g.71611595A=CA1260124185DYSFc.1604A= (p.Asn535=)
c.821A= (p.Asn274=)
c.779A= (p.Asn260=)
c.4136A= (p.Asn1379=)
c.4190A= (p.Asn1397=)
c.4139A= (p.Asn1380=)
c.4187A= (p.Asn1396=)
c.4232A= (p.Asn1411=)
c.4097A= (p.Asn1366=)
c.4229A= (p.Asn1410=)
n.372A=
n.520A=
n.1021A=
n.355A=
n.434A=
c.4094A= (p.Asn1365=)
n.4390A=
2g.71611595A>CCA347228793DYSFc.1604A>C (p.Asn535Thr)
c.821A>C (p.Asn274Thr)
c.779A>C (p.Asn260Thr)
c.4136A>C (p.Asn1379Thr)
c.4190A>C (p.Asn1397Thr)
c.4139A>C (p.Asn1380Thr)
c.4187A>C (p.Asn1396Thr)
c.4232A>C (p.Asn1411Thr)
c.4097A>C (p.Asn1366Thr)
c.4229A>C (p.Asn1410Thr)
n.372A>C
n.520A>C
n.1021A>C
n.355A>C
n.434A>C
c.4094A>C (p.Asn1365Thr)
n.4390A>C
2g.71611595A>GCA347228795DYSFc.1604A>G (p.Asn535Ser)
c.821A>G (p.Asn274Ser)
c.779A>G (p.Asn260Ser)
c.4136A>G (p.Asn1379Ser)
c.4190A>G (p.Asn1397Ser)
c.4139A>G (p.Asn1380Ser)
c.4187A>G (p.Asn1396Ser)
c.4232A>G (p.Asn1411Ser)
c.4097A>G (p.Asn1366Ser)
c.4229A>G (p.Asn1410Ser)
n.372A>G
n.520A>G
n.1021A>G
n.355A>G
n.434A>G
c.4094A>G (p.Asn1365Ser)
n.4390A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71611595A>TCA347228797DYSFc.1604A>T (p.Asn535Ile)
c.821A>T (p.Asn274Ile)
c.779A>T (p.Asn260Ile)
c.4136A>T (p.Asn1379Ile)
c.4190A>T (p.Asn1397Ile)
c.4139A>T (p.Asn1380Ile)
c.4187A>T (p.Asn1396Ile)
c.4232A>T (p.Asn1411Ile)
c.4097A>T (p.Asn1366Ile)
c.4229A>T (p.Asn1410Ile)
n.372A>T
n.520A>T
n.1021A>T
n.355A>T
n.434A>T
c.4094A>T (p.Asn1365Ile)
n.4390A>T
 dbSNP gnomAD v2 gnomAD v4
2g.71611596C>ACA1706915DYSFc.1605C>A (p.Asn535Lys)
c.822C>A (p.Asn274Lys)
c.780C>A (p.Asn260Lys)
c.4137C>A (p.Asn1379Lys)
c.4191C>A (p.Asn1397Lys)
c.4140C>A (p.Asn1380Lys)
c.4188C>A (p.Asn1396Lys)
c.4233C>A (p.Asn1411Lys)
c.4098C>A (p.Asn1366Lys)
c.4230C>A (p.Asn1410Lys)
n.373C>A
n.521C>A
n.1022C>A
n.356C>A
n.435C>A
c.4095C>A (p.Asn1365Lys)
n.4391C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611596C=CA1260124186DYSFc.1605C= (p.Asn535=)
c.822C= (p.Asn274=)
c.780C= (p.Asn260=)
c.4137C= (p.Asn1379=)
c.4191C= (p.Asn1397=)
c.4140C= (p.Asn1380=)
c.4188C= (p.Asn1396=)
c.4233C= (p.Asn1411=)
c.4098C= (p.Asn1366=)
c.4230C= (p.Asn1410=)
n.373C=
n.521C=
n.1022C=
n.356C=
n.435C=
c.4095C= (p.Asn1365=)
n.4391C=
2g.71611596C>GCA347228802DYSFc.1605C>G (p.Asn535Lys)
c.822C>G (p.Asn274Lys)
c.780C>G (p.Asn260Lys)
c.4137C>G (p.Asn1379Lys)
c.4191C>G (p.Asn1397Lys)
c.4140C>G (p.Asn1380Lys)
c.4188C>G (p.Asn1396Lys)
c.4233C>G (p.Asn1411Lys)
c.4098C>G (p.Asn1366Lys)
c.4230C>G (p.Asn1410Lys)
n.373C>G
n.521C>G
n.1022C>G
n.356C>G
n.435C>G
c.4095C>G (p.Asn1365Lys)
n.4391C>G
2g.71611596C>TCA426758793DYSFc.1605C>T (p.Asn535=)
c.822C>T (p.Asn274=)
c.780C>T (p.Asn260=)
c.4137C>T (p.Asn1379=)
c.4191C>T (p.Asn1397=)
c.4140C>T (p.Asn1380=)
c.4188C>T (p.Asn1396=)
c.4233C>T (p.Asn1411=)
c.4098C>T (p.Asn1366=)
c.4230C>T (p.Asn1410=)
n.373C>T
n.521C>T
n.1022C>T
n.356C>T
n.435C>T
c.4095C>T (p.Asn1365=)
n.4391C>T
 ClinVar
2g.71611597T>ACA347228809DYSFc.1606T>A (p.Phe536Ile)
c.823T>A (p.Phe275Ile)
c.781T>A (p.Phe261Ile)
c.4138T>A (p.Phe1380Ile)
c.4192T>A (p.Phe1398Ile)
c.4141T>A (p.Phe1381Ile)
c.4189T>A (p.Phe1397Ile)
c.4234T>A (p.Phe1412Ile)
c.4099T>A (p.Phe1367Ile)
c.4231T>A (p.Phe1411Ile)
n.374T>A
n.522T>A
n.1023T>A
n.357T>A
n.436T>A
c.4096T>A (p.Phe1366Ile)
n.4392T>A
2g.71611597T>CCA347228807DYSFc.1606T>C (p.Phe536Leu)
c.823T>C (p.Phe275Leu)
c.781T>C (p.Phe261Leu)
c.4138T>C (p.Phe1380Leu)
c.4192T>C (p.Phe1398Leu)
c.4141T>C (p.Phe1381Leu)
c.4189T>C (p.Phe1397Leu)
c.4234T>C (p.Phe1412Leu)
c.4099T>C (p.Phe1367Leu)
c.4231T>C (p.Phe1411Leu)
n.374T>C
n.522T>C
n.1023T>C
n.357T>C
n.436T>C
c.4096T>C (p.Phe1366Leu)
n.4392T>C
2g.71611597T>GCA347228805DYSFc.1606T>G (p.Phe536Val)
c.823T>G (p.Phe275Val)
c.781T>G (p.Phe261Val)
c.4138T>G (p.Phe1380Val)
c.4192T>G (p.Phe1398Val)
c.4141T>G (p.Phe1381Val)
c.4189T>G (p.Phe1397Val)
c.4234T>G (p.Phe1412Val)
c.4099T>G (p.Phe1367Val)
c.4231T>G (p.Phe1411Val)
n.374T>G
n.522T>G
n.1023T>G
n.357T>G
n.436T>G
c.4096T>G (p.Phe1366Val)
n.4392T>G
2g.71611598T>ACA347228812DYSFc.1607T>A (p.Phe536Tyr)
c.824T>A (p.Phe275Tyr)
c.782T>A (p.Phe261Tyr)
c.4139T>A (p.Phe1380Tyr)
c.4193T>A (p.Phe1398Tyr)
c.4142T>A (p.Phe1381Tyr)
c.4190T>A (p.Phe1397Tyr)
c.4235T>A (p.Phe1412Tyr)
c.4100T>A (p.Phe1367Tyr)
c.4232T>A (p.Phe1411Tyr)
n.375T>A
n.523T>A
n.1024T>A
n.358T>A
n.437T>A
c.4097T>A (p.Phe1366Tyr)
n.4393T>A
2g.71611598T>CCA347228816DYSFc.1607T>C (p.Phe536Ser)
c.824T>C (p.Phe275Ser)
c.782T>C (p.Phe261Ser)
c.4139T>C (p.Phe1380Ser)
c.4193T>C (p.Phe1398Ser)
c.4142T>C (p.Phe1381Ser)
c.4190T>C (p.Phe1397Ser)
c.4235T>C (p.Phe1412Ser)
c.4100T>C (p.Phe1367Ser)
c.4232T>C (p.Phe1411Ser)
n.375T>C
n.523T>C
n.1024T>C
n.358T>C
n.437T>C
c.4097T>C (p.Phe1366Ser)
n.4393T>C
 ClinVar dbSNP
2g.71611598T>GCA347228814DYSFc.1607T>G (p.Phe536Cys)
c.824T>G (p.Phe275Cys)
c.782T>G (p.Phe261Cys)
c.4139T>G (p.Phe1380Cys)
c.4193T>G (p.Phe1398Cys)
c.4142T>G (p.Phe1381Cys)
c.4190T>G (p.Phe1397Cys)
c.4235T>G (p.Phe1412Cys)
c.4100T>G (p.Phe1367Cys)
c.4232T>G (p.Phe1411Cys)
n.375T>G
n.523T>G
n.1024T>G
n.358T>G
n.437T>G
c.4097T>G (p.Phe1366Cys)
n.4393T>G
2g.71611598T=CA1260124187DYSFc.1607T= (p.Phe536=)
c.824T= (p.Phe275=)
c.782T= (p.Phe261=)
c.4139T= (p.Phe1380=)
c.4193T= (p.Phe1398=)
c.4142T= (p.Phe1381=)
c.4190T= (p.Phe1397=)
c.4235T= (p.Phe1412=)
c.4100T= (p.Phe1367=)
c.4232T= (p.Phe1411=)
n.375T=
n.523T=
n.1024T=
n.358T=
n.437T=
c.4097T= (p.Phe1366=)
n.4393T=
2g.71611599T>ACA347228818DYSFc.1608T>A (p.Phe536Leu)
c.825T>A (p.Phe275Leu)
c.783T>A (p.Phe261Leu)
c.4140T>A (p.Phe1380Leu)
c.4194T>A (p.Phe1398Leu)
c.4143T>A (p.Phe1381Leu)
c.4191T>A (p.Phe1397Leu)
c.4236T>A (p.Phe1412Leu)
c.4101T>A (p.Phe1367Leu)
c.4233T>A (p.Phe1411Leu)
n.376T>A
n.524T>A
n.1025T>A
n.359T>A
n.438T>A
c.4098T>A (p.Phe1366Leu)
n.4394T>A
2g.71611599T>CCA426758800DYSFc.1608T>C (p.Phe536=)
c.825T>C (p.Phe275=)
c.783T>C (p.Phe261=)
c.4140T>C (p.Phe1380=)
c.4194T>C (p.Phe1398=)
c.4143T>C (p.Phe1381=)
c.4191T>C (p.Phe1397=)
c.4236T>C (p.Phe1412=)
c.4101T>C (p.Phe1367=)
c.4233T>C (p.Phe1411=)
n.376T>C
n.524T>C
n.1025T>C
n.359T>C
n.438T>C
c.4098T>C (p.Phe1366=)
n.4394T>C
2g.71611599T>GCA347228821DYSFc.1608T>G (p.Phe536Leu)
c.825T>G (p.Phe275Leu)
c.783T>G (p.Phe261Leu)
c.4140T>G (p.Phe1380Leu)
c.4194T>G (p.Phe1398Leu)
c.4143T>G (p.Phe1381Leu)
c.4191T>G (p.Phe1397Leu)
c.4236T>G (p.Phe1412Leu)
c.4101T>G (p.Phe1367Leu)
c.4233T>G (p.Phe1411Leu)
n.376T>G
n.524T>G
n.1025T>G
n.359T>G
n.438T>G
c.4098T>G (p.Phe1366Leu)
n.4394T>G
2g.71611600G>ACA347228825DYSFc.1609G>A (p.Asp537Asn)
c.826G>A (p.Asp276Asn)
c.784G>A (p.Asp262Asn)
c.4141G>A (p.Asp1381Asn)
c.4195G>A (p.Asp1399Asn)
c.4144G>A (p.Asp1382Asn)
c.4192G>A (p.Asp1398Asn)
c.4237G>A (p.Asp1413Asn)
c.4102G>A (p.Asp1368Asn)
c.4234G>A (p.Asp1412Asn)
n.377G>A
n.525G>A
n.1026G>A
n.360G>A
n.439G>A
c.4099G>A (p.Asp1367Asn)
n.4395G>A
 dbSNP
2g.71611600G>CCA347228829DYSFc.1609G>C (p.Asp537His)
c.826G>C (p.Asp276His)
c.784G>C (p.Asp262His)
c.4141G>C (p.Asp1381His)
c.4195G>C (p.Asp1399His)
c.4144G>C (p.Asp1382His)
c.4192G>C (p.Asp1398His)
c.4237G>C (p.Asp1413His)
c.4102G>C (p.Asp1368His)
c.4234G>C (p.Asp1412His)
n.377G>C
n.525G>C
n.1026G>C
n.360G>C
n.439G>C
c.4099G>C (p.Asp1367His)
n.4395G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71611600G=CA1260124188DYSFc.1609G= (p.Asp537=)
c.826G= (p.Asp276=)
c.784G= (p.Asp262=)
c.4141G= (p.Asp1381=)
c.4195G= (p.Asp1399=)
c.4144G= (p.Asp1382=)
c.4192G= (p.Asp1398=)
c.4237G= (p.Asp1413=)
c.4102G= (p.Asp1368=)
c.4234G= (p.Asp1412=)
n.377G=
n.525G=
n.1026G=
n.360G=
n.439G=
c.4099G= (p.Asp1367=)
n.4395G=
2g.71611600G>TCA347228827DYSFc.1609G>T (p.Asp537Tyr)
c.826G>T (p.Asp276Tyr)
c.784G>T (p.Asp262Tyr)
c.4141G>T (p.Asp1381Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4144G>T (p.Asp1382Tyr)
c.4192G>T (p.Asp1398Tyr)
c.4237G>T (p.Asp1413Tyr)
c.4102G>T (p.Asp1368Tyr)
c.4234G>T (p.Asp1412Tyr)
n.377G>T
n.525G>T
n.1026G>T
n.360G>T
n.439G>T
c.4099G>T (p.Asp1367Tyr)
n.4395G>T
2g.71611601A>CCA347228831DYSFc.1610A>C (p.Asp537Ala)
c.827A>C (p.Asp276Ala)
c.785A>C (p.Asp262Ala)
c.4142A>C (p.Asp1381Ala)
c.4196A>C (p.Asp1399Ala)
c.4145A>C (p.Asp1382Ala)
c.4193A>C (p.Asp1398Ala)
c.4238A>C (p.Asp1413Ala)
c.4103A>C (p.Asp1368Ala)
c.4235A>C (p.Asp1412Ala)
n.378A>C
n.526A>C
n.1027A>C
n.361A>C
n.440A>C
c.4100A>C (p.Asp1367Ala)
n.4396A>C
2g.71611601A>GCA347228837DYSFc.1610A>G (p.Asp537Gly)
c.827A>G (p.Asp276Gly)
c.785A>G (p.Asp262Gly)
c.4142A>G (p.Asp1381Gly)
c.4196A>G (p.Asp1399Gly)
c.4145A>G (p.Asp1382Gly)
c.4193A>G (p.Asp1398Gly)
c.4238A>G (p.Asp1413Gly)
c.4103A>G (p.Asp1368Gly)
c.4235A>G (p.Asp1412Gly)
n.378A>G
n.526A>G
n.1027A>G
n.361A>G
n.440A>G
c.4100A>G (p.Asp1367Gly)
n.4396A>G
2g.71611601A>TCA347228834DYSFc.1610A>T (p.Asp537Val)
c.827A>T (p.Asp276Val)
c.785A>T (p.Asp262Val)
c.4142A>T (p.Asp1381Val)
c.4196A>T (p.Asp1399Val)
c.4145A>T (p.Asp1382Val)
c.4193A>T (p.Asp1398Val)
c.4238A>T (p.Asp1413Val)
c.4103A>T (p.Asp1368Val)
c.4235A>T (p.Asp1412Val)
n.378A>T
n.526A>T
n.1027A>T
n.361A>T
n.440A>T
c.4100A>T (p.Asp1367Val)
n.4396A>T
2g.71611602C>ACA347228839DYSFc.1611C>A (p.Asp537Glu)
c.828C>A (p.Asp276Glu)
c.786C>A (p.Asp262Glu)
c.4143C>A (p.Asp1381Glu)
c.4197C>A (p.Asp1399Glu)
c.4146C>A (p.Asp1382Glu)
c.4194C>A (p.Asp1398Glu)
c.4239C>A (p.Asp1413Glu)
c.4104C>A (p.Asp1368Glu)
c.4236C>A (p.Asp1412Glu)
n.379C>A
n.527C>A
n.1028C>A
n.362C>A
n.441C>A
c.4101C>A (p.Asp1367Glu)
n.4397C>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611602C=CA1260124189DYSFc.1611C= (p.Asp537=)
c.828C= (p.Asp276=)
c.786C= (p.Asp262=)
c.4143C= (p.Asp1381=)
c.4197C= (p.Asp1399=)
c.4146C= (p.Asp1382=)
c.4194C= (p.Asp1398=)
c.4239C= (p.Asp1413=)
c.4104C= (p.Asp1368=)
c.4236C= (p.Asp1412=)
n.379C=
n.527C=
n.1028C=
n.362C=
n.441C=
c.4101C= (p.Asp1367=)
n.4397C=
2g.71611602C>GCA347228842DYSFc.1611C>G (p.Asp537Glu)
c.828C>G (p.Asp276Glu)
c.786C>G (p.Asp262Glu)
c.4143C>G (p.Asp1381Glu)
c.4197C>G (p.Asp1399Glu)
c.4146C>G (p.Asp1382Glu)
c.4194C>G (p.Asp1398Glu)
c.4239C>G (p.Asp1413Glu)
c.4104C>G (p.Asp1368Glu)
c.4236C>G (p.Asp1412Glu)
n.379C>G
n.527C>G
n.1028C>G
n.362C>G
n.441C>G
c.4101C>G (p.Asp1367Glu)
n.4397C>G
2g.71611602C>TCA426758810DYSFc.1611C>T (p.Asp537=)
c.828C>T (p.Asp276=)
c.786C>T (p.Asp262=)
c.4143C>T (p.Asp1381=)
c.4197C>T (p.Asp1399=)
c.4146C>T (p.Asp1382=)
c.4194C>T (p.Asp1398=)
c.4239C>T (p.Asp1413=)
c.4104C>T (p.Asp1368=)
c.4236C>T (p.Asp1412=)
n.379C>T
n.527C>T
n.1028C>T
n.362C>T
n.441C>T
c.4101C>T (p.Asp1367=)
n.4397C>T
 ClinVar
2g.71611603A=CA1260124190DYSFc.1612A= (p.Ile538=)
c.829A= (p.Ile277=)
c.787A= (p.Ile263=)
c.4144A= (p.Ile1382=)
c.4198A= (p.Ile1400=)
c.4147A= (p.Ile1383=)
c.4195A= (p.Ile1399=)
c.4240A= (p.Ile1414=)
c.4105A= (p.Ile1369=)
c.4237A= (p.Ile1413=)
n.380A=
n.528A=
n.1029A=
n.363A=
n.442A=
c.4102A= (p.Ile1368=)
n.4398A=
2g.71611603A>CCA347228847DYSFc.1612A>C (p.Ile538Leu)
c.829A>C (p.Ile277Leu)
c.787A>C (p.Ile263Leu)
c.4144A>C (p.Ile1382Leu)
c.4198A>C (p.Ile1400Leu)
c.4147A>C (p.Ile1383Leu)
c.4195A>C (p.Ile1399Leu)
c.4240A>C (p.Ile1414Leu)
c.4105A>C (p.Ile1369Leu)
c.4237A>C (p.Ile1413Leu)
n.380A>C
n.528A>C
n.1029A>C
n.363A>C
n.442A>C
c.4102A>C (p.Ile1368Leu)
n.4398A>C
2g.71611603A>GCA347228849DYSFc.1612A>G (p.Ile538Val)
c.829A>G (p.Ile277Val)
c.787A>G (p.Ile263Val)
c.4144A>G (p.Ile1382Val)
c.4198A>G (p.Ile1400Val)
c.4147A>G (p.Ile1383Val)
c.4195A>G (p.Ile1399Val)
c.4240A>G (p.Ile1414Val)
c.4105A>G (p.Ile1369Val)
c.4237A>G (p.Ile1413Val)
n.380A>G
n.528A>G
n.1029A>G
n.363A>G
n.442A>G
c.4102A>G (p.Ile1368Val)
n.4398A>G
 dbSNP gnomAD v4
2g.71611603A>TCA347228850DYSFc.1612A>T (p.Ile538Phe)
c.829A>T (p.Ile277Phe)
c.787A>T (p.Ile263Phe)
c.4144A>T (p.Ile1382Phe)
c.4198A>T (p.Ile1400Phe)
c.4147A>T (p.Ile1383Phe)
c.4195A>T (p.Ile1399Phe)
c.4240A>T (p.Ile1414Phe)
c.4105A>T (p.Ile1369Phe)
c.4237A>T (p.Ile1413Phe)
n.380A>T
n.528A>T
n.1029A>T
n.363A>T
n.442A>T
c.4102A>T (p.Ile1368Phe)
n.4398A>T
2g.71611604T>ACA347228853DYSFc.1613T>A (p.Ile538Asn)
c.830T>A (p.Ile277Asn)
c.788T>A (p.Ile263Asn)
c.4145T>A (p.Ile1382Asn)
c.4199T>A (p.Ile1400Asn)
c.4148T>A (p.Ile1383Asn)
c.4196T>A (p.Ile1399Asn)
c.4241T>A (p.Ile1414Asn)
c.4106T>A (p.Ile1369Asn)
c.4238T>A (p.Ile1413Asn)
n.381T>A
n.529T>A
n.1030T>A
n.364T>A
n.443T>A
c.4103T>A (p.Ile1368Asn)
n.4399T>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611604T>CCA1706916DYSFc.1613T>C (p.Ile538Thr)
c.830T>C (p.Ile277Thr)
c.788T>C (p.Ile263Thr)
c.4145T>C (p.Ile1382Thr)
c.4199T>C (p.Ile1400Thr)
c.4148T>C (p.Ile1383Thr)
c.4196T>C (p.Ile1399Thr)
c.4241T>C (p.Ile1414Thr)
c.4106T>C (p.Ile1369Thr)
c.4238T>C (p.Ile1413Thr)
n.381T>C
n.529T>C
n.1030T>C
n.364T>C
n.443T>C
c.4103T>C (p.Ile1368Thr)
n.4399T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611604T>GCA347228857DYSFc.1613T>G (p.Ile538Ser)
c.830T>G (p.Ile277Ser)
c.788T>G (p.Ile263Ser)
c.4145T>G (p.Ile1382Ser)
c.4199T>G (p.Ile1400Ser)
c.4148T>G (p.Ile1383Ser)
c.4196T>G (p.Ile1399Ser)
c.4241T>G (p.Ile1414Ser)
c.4106T>G (p.Ile1369Ser)
c.4238T>G (p.Ile1413Ser)
n.381T>G
n.529T>G
n.1030T>G
n.364T>G
n.443T>G
c.4103T>G (p.Ile1368Ser)
n.4399T>G
2g.71611604T=CA1260124191DYSFc.1613T= (p.Ile538=)
c.830T= (p.Ile277=)
c.788T= (p.Ile263=)
c.4145T= (p.Ile1382=)
c.4199T= (p.Ile1400=)
c.4148T= (p.Ile1383=)
c.4196T= (p.Ile1399=)
c.4241T= (p.Ile1414=)
c.4106T= (p.Ile1369=)
c.4238T= (p.Ile1413=)
n.381T=
n.529T=
n.1030T=
n.364T=
n.443T=
c.4103T= (p.Ile1368=)
n.4399T=
2g.71611605C>ACA426758815DYSFc.1614C>A (p.Ile538=)
c.831C>A (p.Ile277=)
c.789C>A (p.Ile263=)
c.4146C>A (p.Ile1382=)
c.4200C>A (p.Ile1400=)
c.4149C>A (p.Ile1383=)
c.4197C>A (p.Ile1399=)
c.4242C>A (p.Ile1414=)
c.4107C>A (p.Ile1369=)
c.4239C>A (p.Ile1413=)
n.382C>A
n.530C>A
n.1031C>A
n.365C>A
n.444C>A
c.4104C>A (p.Ile1368=)
n.4400C>A
 gnomAD v4
2g.71611605C=CA1260124192DYSFc.1614C= (p.Ile538=)
c.831C= (p.Ile277=)
c.789C= (p.Ile263=)
c.4146C= (p.Ile1382=)
c.4200C= (p.Ile1400=)
c.4149C= (p.Ile1383=)
c.4197C= (p.Ile1399=)
c.4242C= (p.Ile1414=)
c.4107C= (p.Ile1369=)
c.4239C= (p.Ile1413=)
n.382C=
n.530C=
n.1031C=
n.365C=
n.444C=
c.4104C= (p.Ile1368=)
n.4400C=
2g.71611605C>GCA347228860DYSFc.1614C>G (p.Ile538Met)
c.831C>G (p.Ile277Met)
c.789C>G (p.Ile263Met)
c.4146C>G (p.Ile1382Met)
c.4200C>G (p.Ile1400Met)
c.4149C>G (p.Ile1383Met)
c.4197C>G (p.Ile1399Met)
c.4242C>G (p.Ile1414Met)
c.4107C>G (p.Ile1369Met)
c.4239C>G (p.Ile1413Met)
n.382C>G
n.530C>G
n.1031C>G
n.365C>G
n.444C>G
c.4104C>G (p.Ile1368Met)
n.4400C>G
 dbSNP gnomAD v3 gnomAD v4
2g.71611605C>TCA426758817DYSFc.1614C>T (p.Ile538=)
c.831C>T (p.Ile277=)
c.789C>T (p.Ile263=)
c.4146C>T (p.Ile1382=)
c.4200C>T (p.Ile1400=)
c.4149C>T (p.Ile1383=)
c.4197C>T (p.Ile1399=)
c.4242C>T (p.Ile1414=)
c.4107C>T (p.Ile1369=)
c.4239C>T (p.Ile1413=)
n.382C>T
n.530C>T
n.1031C>T
n.365C>T
n.444C>T
c.4104C>T (p.Ile1368=)
n.4400C>T
 ClinVar
2g.71611606T>ACA347228862DYSFc.1615T>A (p.Cys539Ser)
c.832T>A (p.Cys278Ser)
c.790T>A (p.Cys264Ser)
c.4147T>A (p.Cys1383Ser)
c.4201T>A (p.Cys1401Ser)
c.4150T>A (p.Cys1384Ser)
c.4198T>A (p.Cys1400Ser)
c.4243T>A (p.Cys1415Ser)
c.4108T>A (p.Cys1370Ser)
c.4240T>A (p.Cys1414Ser)
n.383T>A
n.531T>A
n.1032T>A
n.366T>A
n.445T>A
c.4105T>A (p.Cys1369Ser)
n.4401T>A
2g.71611606T>CCA347228865DYSFc.1615T>C (p.Cys539Arg)
c.832T>C (p.Cys278Arg)
c.790T>C (p.Cys264Arg)
c.4147T>C (p.Cys1383Arg)
c.4201T>C (p.Cys1401Arg)
c.4150T>C (p.Cys1384Arg)
c.4198T>C (p.Cys1400Arg)
c.4243T>C (p.Cys1415Arg)
c.4108T>C (p.Cys1370Arg)
c.4240T>C (p.Cys1414Arg)
n.383T>C
n.531T>C
n.1032T>C
n.366T>C
n.445T>C
c.4105T>C (p.Cys1369Arg)
n.4401T>C
2g.71611606T>GCA347228867DYSFc.1615T>G (p.Cys539Gly)
c.832T>G (p.Cys278Gly)
c.790T>G (p.Cys264Gly)
c.4147T>G (p.Cys1383Gly)
c.4201T>G (p.Cys1401Gly)
c.4150T>G (p.Cys1384Gly)
c.4198T>G (p.Cys1400Gly)
c.4243T>G (p.Cys1415Gly)
c.4108T>G (p.Cys1370Gly)
c.4240T>G (p.Cys1414Gly)
n.383T>G
n.531T>G
n.1032T>G
n.366T>G
n.445T>G
c.4105T>G (p.Cys1369Gly)
n.4401T>G
2g.71611607G>ACA347228871DYSFc.1616G>A (p.Cys539Tyr)
c.833G>A (p.Cys278Tyr)
c.791G>A (p.Cys264Tyr)
c.4148G>A (p.Cys1383Tyr)
c.4202G>A (p.Cys1401Tyr)
c.4151G>A (p.Cys1384Tyr)
c.4199G>A (p.Cys1400Tyr)
c.4244G>A (p.Cys1415Tyr)
c.4109G>A (p.Cys1370Tyr)
c.4241G>A (p.Cys1414Tyr)
n.384G>A
n.532G>A
n.1033G>A
n.367G>A
n.446G>A
c.4106G>A (p.Cys1369Tyr)
n.4402G>A
 dbSNP
2g.71611607G>CCA347228872DYSFc.1616G>C (p.Cys539Ser)
c.833G>C (p.Cys278Ser)
c.791G>C (p.Cys264Ser)
c.4148G>C (p.Cys1383Ser)
c.4202G>C (p.Cys1401Ser)
c.4151G>C (p.Cys1384Ser)
c.4199G>C (p.Cys1400Ser)
c.4244G>C (p.Cys1415Ser)
c.4109G>C (p.Cys1370Ser)
c.4241G>C (p.Cys1414Ser)
n.384G>C
n.532G>C
n.1033G>C
n.367G>C
n.446G>C
c.4106G>C (p.Cys1369Ser)
n.4402G>C
 gnomAD v4
2g.71611607G=CA1260124193DYSFc.1616G= (p.Cys539=)
c.833G= (p.Cys278=)
c.791G= (p.Cys264=)
c.4148G= (p.Cys1383=)
c.4202G= (p.Cys1401=)
c.4151G= (p.Cys1384=)
c.4199G= (p.Cys1400=)
c.4244G= (p.Cys1415=)
c.4109G= (p.Cys1370=)
c.4241G= (p.Cys1414=)
n.384G=
n.532G=
n.1033G=
n.367G=
n.446G=
c.4106G= (p.Cys1369=)
n.4402G=
2g.71611607G>TCA347228874DYSFc.1616G>T (p.Cys539Phe)
c.833G>T (p.Cys278Phe)
c.791G>T (p.Cys264Phe)
c.4148G>T (p.Cys1383Phe)
c.4202G>T (p.Cys1401Phe)
c.4151G>T (p.Cys1384Phe)
c.4199G>T (p.Cys1400Phe)
c.4244G>T (p.Cys1415Phe)
c.4109G>T (p.Cys1370Phe)
c.4241G>T (p.Cys1414Phe)
n.384G>T
n.532G>T
n.1033G>T
n.367G>T
n.446G>T
c.4106G>T (p.Cys1369Phe)
n.4402G>T
2g.71611608C>ACA347228875DYSFc.1617C>A (p.Cys539Ter)
c.834C>A (p.Cys278Ter)
c.792C>A (p.Cys264Ter)
c.4149C>A (p.Cys1383Ter)
c.4203C>A (p.Cys1401Ter)
c.4152C>A (p.Cys1384Ter)
c.4200C>A (p.Cys1400Ter)
c.4245C>A (p.Cys1415Ter)
c.4110C>A (p.Cys1370Ter)
c.4242C>A (p.Cys1414Ter)
n.385C>A
n.533C>A
n.1034C>A
n.368C>A
n.447C>A
c.4107C>A (p.Cys1369Ter)
n.4403C>A
2g.71611608C=CA1260124194DYSFc.1617C= (p.Cys539=)
c.834C= (p.Cys278=)
c.792C= (p.Cys264=)
c.4149C= (p.Cys1383=)
c.4203C= (p.Cys1401=)
c.4152C= (p.Cys1384=)
c.4200C= (p.Cys1400=)
c.4245C= (p.Cys1415=)
c.4110C= (p.Cys1370=)
c.4242C= (p.Cys1414=)
n.385C=
n.533C=
n.1034C=
n.368C=
n.447C=
c.4107C= (p.Cys1369=)
n.4403C=
2g.71611608C>GCA347228877DYSFc.1617C>G (p.Cys539Trp)
c.834C>G (p.Cys278Trp)
c.792C>G (p.Cys264Trp)
c.4149C>G (p.Cys1383Trp)
c.4203C>G (p.Cys1401Trp)
c.4152C>G (p.Cys1384Trp)
c.4200C>G (p.Cys1400Trp)
c.4245C>G (p.Cys1415Trp)
c.4110C>G (p.Cys1370Trp)
c.4242C>G (p.Cys1414Trp)
n.385C>G
n.533C>G
n.1034C>G
n.368C>G
n.447C>G
c.4107C>G (p.Cys1369Trp)
n.4403C>G
2g.71611608C>TCA426758830DYSFc.1617C>T (p.Cys539=)
c.834C>T (p.Cys278=)
c.792C>T (p.Cys264=)
c.4149C>T (p.Cys1383=)
c.4203C>T (p.Cys1401=)
c.4152C>T (p.Cys1384=)
c.4200C>T (p.Cys1400=)
c.4245C>T (p.Cys1415=)
c.4110C>T (p.Cys1370=)
c.4242C>T (p.Cys1414=)
n.385C>T
n.533C>T
n.1034C>T
n.368C>T
n.447C>T
c.4107C>T (p.Cys1369=)
n.4403C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71611609A>CCA347228881DYSFc.1618A>C (p.Thr540Pro)
c.835A>C (p.Thr279Pro)
c.793A>C (p.Thr265Pro)
c.4150A>C (p.Thr1384Pro)
c.4204A>C (p.Thr1402Pro)
c.4153A>C (p.Thr1385Pro)
c.4201A>C (p.Thr1401Pro)
c.4246A>C (p.Thr1416Pro)
c.4111A>C (p.Thr1371Pro)
c.4243A>C (p.Thr1415Pro)
n.386A>C
n.534A>C
n.1035A>C
n.369A>C
n.448A>C
c.4108A>C (p.Thr1370Pro)
n.4404A>C
2g.71611609A>GCA347228883DYSFc.1618A>G (p.Thr540Ala)
c.835A>G (p.Thr279Ala)
c.793A>G (p.Thr265Ala)
c.4150A>G (p.Thr1384Ala)
c.4204A>G (p.Thr1402Ala)
c.4153A>G (p.Thr1385Ala)
c.4201A>G (p.Thr1401Ala)
c.4246A>G (p.Thr1416Ala)
c.4111A>G (p.Thr1371Ala)
c.4243A>G (p.Thr1415Ala)
n.386A>G
n.534A>G
n.1035A>G
n.369A>G
n.448A>G
c.4108A>G (p.Thr1370Ala)
n.4404A>G
2g.71611609A>TCA347228885DYSFc.1618A>T (p.Thr540Ser)
c.835A>T (p.Thr279Ser)
c.793A>T (p.Thr265Ser)
c.4150A>T (p.Thr1384Ser)
c.4204A>T (p.Thr1402Ser)
c.4153A>T (p.Thr1385Ser)
c.4201A>T (p.Thr1401Ser)
c.4246A>T (p.Thr1416Ser)
c.4111A>T (p.Thr1371Ser)
c.4243A>T (p.Thr1415Ser)
n.386A>T
n.534A>T
n.1035A>T
n.369A>T
n.448A>T
c.4108A>T (p.Thr1370Ser)
n.4404A>T
2g.71611610C>ACA347228888DYSFc.1619C>A (p.Thr540Asn)
c.836C>A (p.Thr279Asn)
c.794C>A (p.Thr265Asn)
c.4151C>A (p.Thr1384Asn)
c.4205C>A (p.Thr1402Asn)
c.4154C>A (p.Thr1385Asn)
c.4202C>A (p.Thr1401Asn)
c.4247C>A (p.Thr1416Asn)
c.4112C>A (p.Thr1371Asn)
c.4244C>A (p.Thr1415Asn)
n.387C>A
n.535C>A
n.1036C>A
n.370C>A
n.449C>A
c.4109C>A (p.Thr1370Asn)
n.4405C>A
 gnomAD v4
2g.71611610C>GCA347228890DYSFc.1619C>G (p.Thr540Ser)
c.836C>G (p.Thr279Ser)
c.794C>G (p.Thr265Ser)
c.4151C>G (p.Thr1384Ser)
c.4205C>G (p.Thr1402Ser)
c.4154C>G (p.Thr1385Ser)
c.4202C>G (p.Thr1401Ser)
c.4247C>G (p.Thr1416Ser)
c.4112C>G (p.Thr1371Ser)
c.4244C>G (p.Thr1415Ser)
n.387C>G
n.535C>G
n.1036C>G
n.370C>G
n.449C>G
c.4109C>G (p.Thr1370Ser)
n.4405C>G
2g.71611610C>TCA347228892DYSFc.1619C>T (p.Thr540Ile)
c.836C>T (p.Thr279Ile)
c.794C>T (p.Thr265Ile)
c.4151C>T (p.Thr1384Ile)
c.4205C>T (p.Thr1402Ile)
c.4154C>T (p.Thr1385Ile)
c.4202C>T (p.Thr1401Ile)
c.4247C>T (p.Thr1416Ile)
c.4112C>T (p.Thr1371Ile)
c.4244C>T (p.Thr1415Ile)
n.387C>T
n.535C>T
n.1036C>T
n.370C>T
n.449C>T
c.4109C>T (p.Thr1370Ile)
n.4405C>T
2g.71611611C>ACA426758835DYSFc.1620C>A (p.Thr540=)
c.837C>A (p.Thr279=)
c.795C>A (p.Thr265=)
c.4152C>A (p.Thr1384=)
c.4206C>A (p.Thr1402=)
c.4155C>A (p.Thr1385=)
c.4203C>A (p.Thr1401=)
c.4248C>A (p.Thr1416=)
c.4113C>A (p.Thr1371=)
c.4245C>A (p.Thr1415=)
n.388C>A
n.536C>A
n.1037C>A
n.371C>A
n.450C>A
c.4110C>A (p.Thr1370=)
n.4406C>A
2g.71611611C>GCA426758837DYSFc.1620C>G (p.Thr540=)
c.837C>G (p.Thr279=)
c.795C>G (p.Thr265=)
c.4152C>G (p.Thr1384=)
c.4206C>G (p.Thr1402=)
c.4155C>G (p.Thr1385=)
c.4203C>G (p.Thr1401=)
c.4248C>G (p.Thr1416=)
c.4113C>G (p.Thr1371=)
c.4245C>G (p.Thr1415=)
n.388C>G
n.536C>G
n.1037C>G
n.371C>G
n.450C>G
c.4110C>G (p.Thr1370=)
n.4406C>G
2g.71611611C>TCA426758839DYSFc.1620C>T (p.Thr540=)
c.837C>T (p.Thr279=)
c.795C>T (p.Thr265=)
c.4152C>T (p.Thr1384=)
c.4206C>T (p.Thr1402=)
c.4155C>T (p.Thr1385=)
c.4203C>T (p.Thr1401=)
c.4248C>T (p.Thr1416=)
c.4113C>T (p.Thr1371=)
c.4245C>T (p.Thr1415=)
n.388C>T
n.536C>T
n.1037C>T
n.371C>T
n.450C>T
c.4110C>T (p.Thr1370=)
n.4406C>T
 ClinVar dbSNP gnomAD v4
2g.71611612C>ACA347228895DYSFc.1621C>A (p.Leu541Ile)
c.838C>A (p.Leu280Ile)
c.796C>A (p.Leu266Ile)
c.4153C>A (p.Leu1385Ile)
c.4207C>A (p.Leu1403Ile)
c.4156C>A (p.Leu1386Ile)
c.4204C>A (p.Leu1402Ile)
c.4249C>A (p.Leu1417Ile)
c.4114C>A (p.Leu1372Ile)
c.4246C>A (p.Leu1416Ile)
n.389C>A
n.537C>A
n.1038C>A
n.372C>A
n.451C>A
c.4111C>A (p.Leu1371Ile)
n.4407C>A
2g.71611612C=CA1260124195DYSFc.1621C= (p.Leu541=)
c.838C= (p.Leu280=)
c.796C= (p.Leu266=)
c.4153C= (p.Leu1385=)
c.4207C= (p.Leu1403=)
c.4156C= (p.Leu1386=)
c.4204C= (p.Leu1402=)
c.4249C= (p.Leu1417=)
c.4114C= (p.Leu1372=)
c.4246C= (p.Leu1416=)
n.389C=
n.537C=
n.1038C=
n.372C=
n.451C=
c.4111C= (p.Leu1371=)
n.4407C=
2g.71611612C>GCA347228896DYSFc.1621C>G (p.Leu541Val)
c.838C>G (p.Leu280Val)
c.796C>G (p.Leu266Val)
c.4153C>G (p.Leu1385Val)
c.4207C>G (p.Leu1403Val)
c.4156C>G (p.Leu1386Val)
c.4204C>G (p.Leu1402Val)
c.4249C>G (p.Leu1417Val)
c.4114C>G (p.Leu1372Val)
c.4246C>G (p.Leu1416Val)
n.389C>G
n.537C>G
n.1038C>G
n.372C>G
n.451C>G
c.4111C>G (p.Leu1371Val)
n.4407C>G
2g.71611612C>TCA347228899DYSFc.1621C>T (p.Leu541Phe)
c.838C>T (p.Leu280Phe)
c.796C>T (p.Leu266Phe)
c.4153C>T (p.Leu1385Phe)
c.4207C>T (p.Leu1403Phe)
c.4156C>T (p.Leu1386Phe)
c.4204C>T (p.Leu1402Phe)
c.4249C>T (p.Leu1417Phe)
c.4114C>T (p.Leu1372Phe)
c.4246C>T (p.Leu1416Phe)
n.389C>T
n.537C>T
n.1038C>T
n.372C>T
n.451C>T
c.4111C>T (p.Leu1371Phe)
n.4407C>T
 dbSNP gnomAD v4
2g.71611613T>ACA347228901DYSFc.1622T>A (p.Leu541His)
c.839T>A (p.Leu280His)
c.797T>A (p.Leu266His)
c.4154T>A (p.Leu1385His)
c.4208T>A (p.Leu1403His)
c.4157T>A (p.Leu1386His)
c.4205T>A (p.Leu1402His)
c.4250T>A (p.Leu1417His)
c.4115T>A (p.Leu1372His)
c.4247T>A (p.Leu1416His)
n.390T>A
n.538T>A
n.1039T>A
n.373T>A
n.452T>A
c.4112T>A (p.Leu1371His)
n.4408T>A
2g.71611613T>CCA347228904DYSFc.1622T>C (p.Leu541Pro)
c.839T>C (p.Leu280Pro)
c.797T>C (p.Leu266Pro)
c.4154T>C (p.Leu1385Pro)
c.4208T>C (p.Leu1403Pro)
c.4157T>C (p.Leu1386Pro)
c.4205T>C (p.Leu1402Pro)
c.4250T>C (p.Leu1417Pro)
c.4115T>C (p.Leu1372Pro)
c.4247T>C (p.Leu1416Pro)
n.390T>C
n.538T>C
n.1039T>C
n.373T>C
n.452T>C
c.4112T>C (p.Leu1371Pro)
n.4408T>C
2g.71611613T>GCA347228906DYSFc.1622T>G (p.Leu541Arg)
c.839T>G (p.Leu280Arg)
c.797T>G (p.Leu266Arg)
c.4154T>G (p.Leu1385Arg)
c.4208T>G (p.Leu1403Arg)
c.4157T>G (p.Leu1386Arg)
c.4205T>G (p.Leu1402Arg)
c.4250T>G (p.Leu1417Arg)
c.4115T>G (p.Leu1372Arg)
c.4247T>G (p.Leu1416Arg)
n.390T>G
n.538T>G
n.1039T>G
n.373T>G
n.452T>G
c.4112T>G (p.Leu1371Arg)
n.4408T>G
2g.71611614C>ACA426758849DYSFc.1623C>A (p.Leu541=)
c.840C>A (p.Leu280=)
c.798C>A (p.Leu266=)
c.4155C>A (p.Leu1385=)
c.4209C>A (p.Leu1403=)
c.4158C>A (p.Leu1386=)
c.4206C>A (p.Leu1402=)
c.4251C>A (p.Leu1417=)
c.4116C>A (p.Leu1372=)
c.4248C>A (p.Leu1416=)
n.391C>A
n.539C>A
n.1040C>A
n.374C>A
n.453C>A
c.4113C>A (p.Leu1371=)
n.4409C>A
2g.71611614C>GCA426758845DYSFc.1623C>G (p.Leu541=)
c.840C>G (p.Leu280=)
c.798C>G (p.Leu266=)
c.4155C>G (p.Leu1385=)
c.4209C>G (p.Leu1403=)
c.4158C>G (p.Leu1386=)
c.4206C>G (p.Leu1402=)
c.4251C>G (p.Leu1417=)
c.4116C>G (p.Leu1372=)
c.4248C>G (p.Leu1416=)
n.391C>G
n.539C>G
n.1040C>G
n.374C>G
n.453C>G
c.4113C>G (p.Leu1371=)
n.4409C>G
2g.71611614C>TCA426758848DYSFc.1623C>T (p.Leu541=)
c.840C>T (p.Leu280=)
c.798C>T (p.Leu266=)
c.4155C>T (p.Leu1385=)
c.4209C>T (p.Leu1403=)
c.4158C>T (p.Leu1386=)
c.4206C>T (p.Leu1402=)
c.4251C>T (p.Leu1417=)
c.4116C>T (p.Leu1372=)
c.4248C>T (p.Leu1416=)
n.391C>T
n.539C>T
n.1040C>T
n.374C>T
n.453C>T
c.4113C>T (p.Leu1371=)
n.4409C>T
2g.71611615T>ACA347228909DYSFc.1624T>A (p.Phe542Ile)
c.841T>A (p.Phe281Ile)
c.799T>A (p.Phe267Ile)
c.4156T>A (p.Phe1386Ile)
c.4210T>A (p.Phe1404Ile)
c.4159T>A (p.Phe1387Ile)
c.4207T>A (p.Phe1403Ile)
c.4252T>A (p.Phe1418Ile)
c.4117T>A (p.Phe1373Ile)
c.4249T>A (p.Phe1417Ile)
n.392T>A
n.540T>A
n.1041T>A
n.375T>A
n.454T>A
c.4114T>A (p.Phe1372Ile)
n.4410T>A
2g.71611615T>CCA347228913DYSFc.1624T>C (p.Phe542Leu)
c.841T>C (p.Phe281Leu)
c.799T>C (p.Phe267Leu)
c.4156T>C (p.Phe1386Leu)
c.4210T>C (p.Phe1404Leu)
c.4159T>C (p.Phe1387Leu)
c.4207T>C (p.Phe1403Leu)
c.4252T>C (p.Phe1418Leu)
c.4117T>C (p.Phe1373Leu)
c.4249T>C (p.Phe1417Leu)
n.392T>C
n.540T>C
n.1041T>C
n.375T>C
n.454T>C
c.4114T>C (p.Phe1372Leu)
n.4410T>C
2g.71611615T>GCA347228911DYSFc.1624T>G (p.Phe542Val)
c.841T>G (p.Phe281Val)
c.799T>G (p.Phe267Val)
c.4156T>G (p.Phe1386Val)
c.4210T>G (p.Phe1404Val)
c.4159T>G (p.Phe1387Val)
c.4207T>G (p.Phe1403Val)
c.4252T>G (p.Phe1418Val)
c.4117T>G (p.Phe1373Val)
c.4249T>G (p.Phe1417Val)
n.392T>G
n.540T>G
n.1041T>G
n.375T>G
n.454T>G
c.4114T>G (p.Phe1372Val)
n.4410T>G
2g.71611616T>ACA347228917DYSFc.1625T>A (p.Phe542Tyr)
c.842T>A (p.Phe281Tyr)
c.800T>A (p.Phe267Tyr)
c.4157T>A (p.Phe1386Tyr)
c.4211T>A (p.Phe1404Tyr)
c.4160T>A (p.Phe1387Tyr)
c.4208T>A (p.Phe1403Tyr)
c.4253T>A (p.Phe1418Tyr)
c.4118T>A (p.Phe1373Tyr)
c.4250T>A (p.Phe1417Tyr)
n.393T>A
n.541T>A
n.1042T>A
n.376T>A
n.455T>A
c.4115T>A (p.Phe1372Tyr)
n.4411T>A
2g.71611616T>CCA347228920DYSFc.1625T>C (p.Phe542Ser)
c.842T>C (p.Phe281Ser)
c.800T>C (p.Phe267Ser)
c.4157T>C (p.Phe1386Ser)
c.4211T>C (p.Phe1404Ser)
c.4160T>C (p.Phe1387Ser)
c.4208T>C (p.Phe1403Ser)
c.4253T>C (p.Phe1418Ser)
c.4118T>C (p.Phe1373Ser)
c.4250T>C (p.Phe1417Ser)
n.393T>C
n.541T>C
n.1042T>C
n.376T>C
n.455T>C
c.4115T>C (p.Phe1372Ser)
n.4411T>C
2g.71611616T>GCA347228921DYSFc.1625T>G (p.Phe542Cys)
c.842T>G (p.Phe281Cys)
c.800T>G (p.Phe267Cys)
c.4157T>G (p.Phe1386Cys)
c.4211T>G (p.Phe1404Cys)
c.4160T>G (p.Phe1387Cys)
c.4208T>G (p.Phe1403Cys)
c.4253T>G (p.Phe1418Cys)
c.4118T>G (p.Phe1373Cys)
c.4250T>G (p.Phe1417Cys)
n.393T>G
n.541T>G
n.1042T>G
n.376T>G
n.455T>G
c.4115T>G (p.Phe1372Cys)
n.4411T>G
2g.71611617C>ACA347228925DYSFc.1626C>A (p.Phe542Leu)
c.843C>A (p.Phe281Leu)
c.801C>A (p.Phe267Leu)
c.4158C>A (p.Phe1386Leu)
c.4212C>A (p.Phe1404Leu)
c.4161C>A (p.Phe1387Leu)
c.4209C>A (p.Phe1403Leu)
c.4254C>A (p.Phe1418Leu)
c.4119C>A (p.Phe1373Leu)
c.4251C>A (p.Phe1417Leu)
n.394C>A
n.542C>A
n.1043C>A
n.377C>A
n.456C>A
c.4116C>A (p.Phe1372Leu)
n.4412C>A
2g.71611617C=CA1260124196DYSFc.1626C= (p.Phe542=)
c.843C= (p.Phe281=)
c.801C= (p.Phe267=)
c.4158C= (p.Phe1386=)
c.4212C= (p.Phe1404=)
c.4161C= (p.Phe1387=)
c.4209C= (p.Phe1403=)
c.4254C= (p.Phe1418=)
c.4119C= (p.Phe1373=)
c.4251C= (p.Phe1417=)
n.394C=
n.542C=
n.1043C=
n.377C=
n.456C=
c.4116C= (p.Phe1372=)
n.4412C=
2g.71611617C>GCA347228928DYSFc.1626C>G (p.Phe542Leu)
c.843C>G (p.Phe281Leu)
c.801C>G (p.Phe267Leu)
c.4158C>G (p.Phe1386Leu)
c.4212C>G (p.Phe1404Leu)
c.4161C>G (p.Phe1387Leu)
c.4209C>G (p.Phe1403Leu)
c.4254C>G (p.Phe1418Leu)
c.4119C>G (p.Phe1373Leu)
c.4251C>G (p.Phe1417Leu)
n.394C>G
n.542C>G
n.1043C>G
n.377C>G
n.456C>G
c.4116C>G (p.Phe1372Leu)
n.4412C>G
2g.71611617C>TCA1706917DYSFc.1626C>T (p.Phe542=)
c.843C>T (p.Phe281=)
c.801C>T (p.Phe267=)
c.4158C>T (p.Phe1386=)
c.4212C>T (p.Phe1404=)
c.4161C>T (p.Phe1387=)
c.4209C>T (p.Phe1403=)
c.4254C>T (p.Phe1418=)
c.4119C>T (p.Phe1373=)
c.4251C>T (p.Phe1417=)
n.394C>T
n.542C>T
n.1043C>T
n.377C>T
n.456C>T
c.4116C>T (p.Phe1372=)
n.4412C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611618A=CA1260124197DYSFc.1627A= (p.Met543=)
c.844A= (p.Met282=)
c.802A= (p.Met268=)
c.4159A= (p.Met1387=)
c.4213A= (p.Met1405=)
c.4162A= (p.Met1388=)
c.4210A= (p.Met1404=)
c.4255A= (p.Met1419=)
c.4120A= (p.Met1374=)
c.4252A= (p.Met1418=)
n.395A=
n.543A=
n.1044A=
n.378A=
n.457A=
c.4117A= (p.Met1373=)
n.4413A=
2g.71611618A>CCA1706918DYSFc.1627A>C (p.Met543Leu)
c.844A>C (p.Met282Leu)
c.802A>C (p.Met268Leu)
c.4159A>C (p.Met1387Leu)
c.4213A>C (p.Met1405Leu)
c.4162A>C (p.Met1388Leu)
c.4210A>C (p.Met1404Leu)
c.4255A>C (p.Met1419Leu)
c.4120A>C (p.Met1374Leu)
c.4252A>C (p.Met1418Leu)
n.395A>C
n.543A>C
n.1044A>C
n.378A>C
n.457A>C
c.4117A>C (p.Met1373Leu)
n.4413A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611618A>GCA49779135DYSFc.1627A>G (p.Met543Val)
c.844A>G (p.Met282Val)
c.802A>G (p.Met268Val)
c.4159A>G (p.Met1387Val)
c.4213A>G (p.Met1405Val)
c.4162A>G (p.Met1388Val)
c.4210A>G (p.Met1404Val)
c.4255A>G (p.Met1419Val)
c.4120A>G (p.Met1374Val)
c.4252A>G (p.Met1418Val)
n.395A>G
n.543A>G
n.1044A>G
n.378A>G
n.457A>G
c.4117A>G (p.Met1373Val)
n.4413A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71611618A>TCA347228936DYSFc.1627A>T (p.Met543Leu)
c.844A>T (p.Met282Leu)
c.802A>T (p.Met268Leu)
c.4159A>T (p.Met1387Leu)
c.4213A>T (p.Met1405Leu)
c.4162A>T (p.Met1388Leu)
c.4210A>T (p.Met1404Leu)
c.4255A>T (p.Met1419Leu)
c.4120A>T (p.Met1374Leu)
c.4252A>T (p.Met1418Leu)
n.395A>T
n.543A>T
n.1044A>T
n.378A>T
n.457A>T
c.4117A>T (p.Met1373Leu)
n.4413A>T
2g.71611619T>ACA347228938DYSFc.1628T>A (p.Met543Lys)
c.845T>A (p.Met282Lys)
c.803T>A (p.Met268Lys)
c.4160T>A (p.Met1387Lys)
c.4214T>A (p.Met1405Lys)
c.4163T>A (p.Met1388Lys)
c.4211T>A (p.Met1404Lys)
c.4256T>A (p.Met1419Lys)
c.4121T>A (p.Met1374Lys)
c.4253T>A (p.Met1418Lys)
n.396T>A
n.544T>A
n.1045T>A
n.379T>A
n.458T>A
c.4118T>A (p.Met1373Lys)
n.4414T>A
2g.71611619T>CCA347228941DYSFc.1628T>C (p.Met543Thr)
c.845T>C (p.Met282Thr)
c.803T>C (p.Met268Thr)
c.4160T>C (p.Met1387Thr)
c.4214T>C (p.Met1405Thr)
c.4163T>C (p.Met1388Thr)
c.4211T>C (p.Met1404Thr)
c.4256T>C (p.Met1419Thr)
c.4121T>C (p.Met1374Thr)
c.4253T>C (p.Met1418Thr)
n.396T>C
n.544T>C
n.1045T>C
n.379T>C
n.458T>C
c.4118T>C (p.Met1373Thr)
n.4414T>C
 dbSNP
2g.71611619T>GCA347228943DYSFc.1628T>G (p.Met543Arg)
c.845T>G (p.Met282Arg)
c.803T>G (p.Met268Arg)
c.4160T>G (p.Met1387Arg)
c.4214T>G (p.Met1405Arg)
c.4163T>G (p.Met1388Arg)
c.4211T>G (p.Met1404Arg)
c.4256T>G (p.Met1419Arg)
c.4121T>G (p.Met1374Arg)
c.4253T>G (p.Met1418Arg)
n.396T>G
n.544T>G
n.1045T>G
n.379T>G
n.458T>G
c.4118T>G (p.Met1373Arg)
n.4414T>G
2g.71611619T=CA1260124198DYSFc.1628T= (p.Met543=)
c.845T= (p.Met282=)
c.803T= (p.Met268=)
c.4160T= (p.Met1387=)
c.4214T= (p.Met1405=)
c.4163T= (p.Met1388=)
c.4211T= (p.Met1404=)
c.4256T= (p.Met1419=)
c.4121T= (p.Met1374=)
c.4253T= (p.Met1418=)
n.396T=
n.544T=
n.1045T=
n.379T=
n.458T=
c.4118T= (p.Met1373=)
n.4414T=
2g.71611620G>ACA347228950DYSFc.1629G>A (p.Met543Ile)
c.846G>A (p.Met282Ile)
c.804G>A (p.Met268Ile)
c.4161G>A (p.Met1387Ile)
c.4215G>A (p.Met1405Ile)
c.4164G>A (p.Met1388Ile)
c.4212G>A (p.Met1404Ile)
c.4257G>A (p.Met1419Ile)
c.4122G>A (p.Met1374Ile)
c.4254G>A (p.Met1418Ile)
n.397G>A
n.545G>A
n.1046G>A
n.380G>A
n.459G>A
c.4119G>A (p.Met1373Ile)
n.4415G>A
2g.71611620G>CCA347228946DYSFc.1629G>C (p.Met543Ile)
c.846G>C (p.Met282Ile)
c.804G>C (p.Met268Ile)
c.4161G>C (p.Met1387Ile)
c.4215G>C (p.Met1405Ile)
c.4164G>C (p.Met1388Ile)
c.4212G>C (p.Met1404Ile)
c.4257G>C (p.Met1419Ile)
c.4122G>C (p.Met1374Ile)
c.4254G>C (p.Met1418Ile)
n.397G>C
n.545G>C
n.1046G>C
n.380G>C
n.459G>C
c.4119G>C (p.Met1373Ile)
n.4415G>C
2g.71611620G>TCA347228947DYSFc.1629G>T (p.Met543Ile)
c.846G>T (p.Met282Ile)
c.804G>T (p.Met268Ile)
c.4161G>T (p.Met1387Ile)
c.4215G>T (p.Met1405Ile)
c.4164G>T (p.Met1388Ile)
c.4212G>T (p.Met1404Ile)
c.4257G>T (p.Met1419Ile)
c.4122G>T (p.Met1374Ile)
c.4254G>T (p.Met1418Ile)
n.397G>T
n.545G>T
n.1046G>T
n.380G>T
n.459G>T
c.4119G>T (p.Met1373Ile)
n.4415G>T
2g.71611621G>ACA49779146DYSFc.1630G>A (p.Glu544Lys)
c.847G>A (p.Glu283Lys)
c.805G>A (p.Glu269Lys)
c.4162G>A (p.Glu1388Lys)
c.4216G>A (p.Glu1406Lys)
c.4165G>A (p.Glu1389Lys)
c.4213G>A (p.Glu1405Lys)
c.4258G>A (p.Glu1420Lys)
c.4123G>A (p.Glu1375Lys)
c.4255G>A (p.Glu1419Lys)
n.398G>A
n.546G>A
n.1047G>A
n.381G>A
n.460G>A
c.4120G>A (p.Glu1374Lys)
n.4416G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611621G>CCA347228955DYSFc.1630G>C (p.Glu544Gln)
c.847G>C (p.Glu283Gln)
c.805G>C (p.Glu269Gln)
c.4162G>C (p.Glu1388Gln)
c.4216G>C (p.Glu1406Gln)
c.4165G>C (p.Glu1389Gln)
c.4213G>C (p.Glu1405Gln)
c.4258G>C (p.Glu1420Gln)
c.4123G>C (p.Glu1375Gln)
c.4255G>C (p.Glu1419Gln)
n.398G>C
n.546G>C
n.1047G>C
n.381G>C
n.460G>C
c.4120G>C (p.Glu1374Gln)
n.4416G>C
2g.71611621G=CA1260124199DYSFc.1630G= (p.Glu544=)
c.847G= (p.Glu283=)
c.805G= (p.Glu269=)
c.4162G= (p.Glu1388=)
c.4216G= (p.Glu1406=)
c.4165G= (p.Glu1389=)
c.4213G= (p.Glu1405=)
c.4258G= (p.Glu1420=)
c.4123G= (p.Glu1375=)
c.4255G= (p.Glu1419=)
n.398G=
n.546G=
n.1047G=
n.381G=
n.460G=
c.4120G= (p.Glu1374=)
n.4416G=
2g.71611621G>TCA347228957DYSFc.1630G>T (p.Glu544Ter)
c.847G>T (p.Glu283Ter)
c.805G>T (p.Glu269Ter)
c.4162G>T (p.Glu1388Ter)
c.4216G>T (p.Glu1406Ter)
c.4165G>T (p.Glu1389Ter)
c.4213G>T (p.Glu1405Ter)
c.4258G>T (p.Glu1420Ter)
c.4123G>T (p.Glu1375Ter)
c.4255G>T (p.Glu1419Ter)
n.398G>T
n.546G>T
n.1047G>T
n.381G>T
n.460G>T
c.4120G>T (p.Glu1374Ter)
n.4416G>T
 ClinVar dbSNP gnomAD v4
2g.71611622A>CCA347228960DYSFc.1631A>C (p.Glu544Ala)
c.848A>C (p.Glu283Ala)
c.806A>C (p.Glu269Ala)
c.4163A>C (p.Glu1388Ala)
c.4217A>C (p.Glu1406Ala)
c.4166A>C (p.Glu1389Ala)
c.4214A>C (p.Glu1405Ala)
c.4259A>C (p.Glu1420Ala)
c.4124A>C (p.Glu1375Ala)
c.4256A>C (p.Glu1419Ala)
n.399A>C
n.547A>C
n.1048A>C
n.382A>C
n.461A>C
c.4121A>C (p.Glu1374Ala)
n.4417A>C
2g.71611622A>GCA347228962DYSFc.1631A>G (p.Glu544Gly)
c.848A>G (p.Glu283Gly)
c.806A>G (p.Glu269Gly)
c.4163A>G (p.Glu1388Gly)
c.4217A>G (p.Glu1406Gly)
c.4166A>G (p.Glu1389Gly)
c.4214A>G (p.Glu1405Gly)
c.4259A>G (p.Glu1420Gly)
c.4124A>G (p.Glu1375Gly)
c.4256A>G (p.Glu1419Gly)
n.399A>G
n.547A>G
n.1048A>G
n.382A>G
n.461A>G
c.4121A>G (p.Glu1374Gly)
n.4417A>G
2g.71611622A>TCA347228964DYSFc.1631A>T (p.Glu544Val)
c.848A>T (p.Glu283Val)
c.806A>T (p.Glu269Val)
c.4163A>T (p.Glu1388Val)
c.4217A>T (p.Glu1406Val)
c.4166A>T (p.Glu1389Val)
c.4214A>T (p.Glu1405Val)
c.4259A>T (p.Glu1420Val)
c.4124A>T (p.Glu1375Val)
c.4256A>T (p.Glu1419Val)
n.399A>T
n.547A>T
n.1048A>T
n.382A>T
n.461A>T
c.4121A>T (p.Glu1374Val)
n.4417A>T
2g.71611623A=CA1260124200DYSFc.1632A= (p.Glu544=)
c.849A= (p.Glu283=)
c.807A= (p.Glu269=)
c.4164A= (p.Glu1388=)
c.4218A= (p.Glu1406=)
c.4167A= (p.Glu1389=)
c.4215A= (p.Glu1405=)
c.4260A= (p.Glu1420=)
c.4125A= (p.Glu1375=)
c.4257A= (p.Glu1419=)
n.400A=
n.548A=
n.1049A=
n.383A=
n.462A=
c.4122A= (p.Glu1374=)
n.4418A=
2g.71611623A>CCA347228967DYSFc.1632A>C (p.Glu544Asp)
c.849A>C (p.Glu283Asp)
c.807A>C (p.Glu269Asp)
c.4164A>C (p.Glu1388Asp)
c.4218A>C (p.Glu1406Asp)
c.4167A>C (p.Glu1389Asp)
c.4215A>C (p.Glu1405Asp)
c.4260A>C (p.Glu1420Asp)
c.4125A>C (p.Glu1375Asp)
c.4257A>C (p.Glu1419Asp)
n.400A>C
n.548A>C
n.1049A>C
n.383A>C
n.462A>C
c.4122A>C (p.Glu1374Asp)
n.4418A>C
2g.71611623A>GCA426758863DYSFc.1632A>G (p.Glu544=)
c.849A>G (p.Glu283=)
c.807A>G (p.Glu269=)
c.4164A>G (p.Glu1388=)
c.4218A>G (p.Glu1406=)
c.4167A>G (p.Glu1389=)
c.4215A>G (p.Glu1405=)
c.4260A>G (p.Glu1420=)
c.4125A>G (p.Glu1375=)
c.4257A>G (p.Glu1419=)
n.400A>G
n.548A>G
n.1049A>G
n.383A>G
n.462A>G
c.4122A>G (p.Glu1374=)
n.4418A>G
2g.71611623A>TCA49779152DYSFc.1632A>T (p.Glu544Asp)
c.849A>T (p.Glu283Asp)
c.807A>T (p.Glu269Asp)
c.4164A>T (p.Glu1388Asp)
c.4218A>T (p.Glu1406Asp)
c.4167A>T (p.Glu1389Asp)
c.4215A>T (p.Glu1405Asp)
c.4260A>T (p.Glu1420Asp)
c.4125A>T (p.Glu1375Asp)
c.4257A>T (p.Glu1419Asp)
n.400A>T
n.548A>T
n.1049A>T
n.383A>T
n.462A>T
c.4122A>T (p.Glu1374Asp)
n.4418A>T
 ClinVar dbSNP
2g.71611623_71611626delinsAGTGCA1260124201DYSFc.1632_1635delinsAGTG (p.Glu544=)
c.849_852delinsAGTG (p.Glu283=)
c.807_810delinsAGTG (p.Glu269=)
c.4164_4167delinsAGTG (p.Glu1388=)
c.4218_4221delinsAGTG (p.Glu1406=)
c.4167_4170delinsAGTG (p.Glu1389=)
c.4215_4218delinsAGTG (p.Glu1405=)
c.4260_4263delinsAGTG (p.Glu1420=)
c.4125_4128delinsAGTG (p.Glu1375=)
c.4257_4260delinsAGTG (p.Glu1419=)
n.400_403delinsAGTG
n.548_551delinsAGTG
n.1049_1052delinsAGTG
n.383_386delinsAGTG
n.462_465delinsAGTG
c.4122_4125delinsAGTG (p.Glu1374=)
n.4418_4421delinsAGTG
2g.71611624G>ACA347228972DYSFc.1633G>A (p.Val545Met)
c.850G>A (p.Val284Met)
c.808G>A (p.Val270Met)
c.4165G>A (p.Val1389Met)
c.4219G>A (p.Val1407Met)
c.4168G>A (p.Val1390Met)
c.4216G>A (p.Val1406Met)
c.4261G>A (p.Val1421Met)
c.4126G>A (p.Val1376Met)
c.4258G>A (p.Val1420Met)
n.401G>A
n.549G>A
n.1050G>A
n.384G>A
n.463G>A
c.4123G>A (p.Val1375Met)
n.4419G>A
 ClinVar gnomAD v4
2g.71611624G>CCA347228974DYSFc.1633G>C (p.Val545Leu)
c.850G>C (p.Val284Leu)
c.808G>C (p.Val270Leu)
c.4165G>C (p.Val1389Leu)
c.4219G>C (p.Val1407Leu)
c.4168G>C (p.Val1390Leu)
c.4216G>C (p.Val1406Leu)
c.4261G>C (p.Val1421Leu)
c.4126G>C (p.Val1376Leu)
c.4258G>C (p.Val1420Leu)
n.401G>C
n.549G>C
n.1050G>C
n.384G>C
n.463G>C
c.4123G>C (p.Val1375Leu)
n.4419G>C
2g.71611624G>TCA347228976DYSFc.1633G>T (p.Val545Leu)
c.850G>T (p.Val284Leu)
c.808G>T (p.Val270Leu)
c.4165G>T (p.Val1389Leu)
c.4219G>T (p.Val1407Leu)
c.4168G>T (p.Val1390Leu)
c.4216G>T (p.Val1406Leu)
c.4261G>T (p.Val1421Leu)
c.4126G>T (p.Val1376Leu)
c.4258G>T (p.Val1420Leu)
n.401G>T
n.549G>T
n.1050G>T
n.384G>T
n.463G>T
c.4123G>T (p.Val1375Leu)
n.4419G>T
 gnomAD v4
2g.71611627_71611629delCA892652134DYSFc.1635+1_1635+3del
c.852+1_852+3del
c.810+1_810+3del
c.4167+1_4167+3del
c.4221+1_4221+3del
c.4170+1_4170+3del
c.4218+1_4218+3del
c.4263+1_4263+3del
c.4128+1_4128+3del
c.4260+1_4260+3del
n.403+1_403+3del
n.551+1_551+3del
n.1052+1_1052+3del
n.386+1_386+3del
n.465+1_465+3del
c.4125+1_4125+3del
n.4421+1_4421+3del
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71611625T>ACA347228983DYSFc.1634T>A (p.Val545Glu)
c.851T>A (p.Val284Glu)
c.809T>A (p.Val270Glu)
c.4166T>A (p.Val1389Glu)
c.4220T>A (p.Val1407Glu)
c.4169T>A (p.Val1390Glu)
c.4217T>A (p.Val1406Glu)
c.4262T>A (p.Val1421Glu)
c.4127T>A (p.Val1376Glu)
c.4259T>A (p.Val1420Glu)
n.402T>A
n.550T>A
n.1051T>A
n.385T>A
n.464T>A
c.4124T>A (p.Val1375Glu)
n.4420T>A
2g.71611625T>CCA347228981DYSFc.1634T>C (p.Val545Ala)
c.851T>C (p.Val284Ala)
c.809T>C (p.Val270Ala)
c.4166T>C (p.Val1389Ala)
c.4220T>C (p.Val1407Ala)
c.4169T>C (p.Val1390Ala)
c.4217T>C (p.Val1406Ala)
c.4262T>C (p.Val1421Ala)
c.4127T>C (p.Val1376Ala)
c.4259T>C (p.Val1420Ala)
n.402T>C
n.550T>C
n.1051T>C
n.385T>C
n.464T>C
c.4124T>C (p.Val1375Ala)
n.4420T>C
 dbSNP
2g.71611625T>GCA347228979DYSFc.1634T>G (p.Val545Gly)
c.851T>G (p.Val284Gly)
c.809T>G (p.Val270Gly)
c.4166T>G (p.Val1389Gly)
c.4220T>G (p.Val1407Gly)
c.4169T>G (p.Val1390Gly)
c.4217T>G (p.Val1406Gly)
c.4262T>G (p.Val1421Gly)
c.4127T>G (p.Val1376Gly)
c.4259T>G (p.Val1420Gly)
n.402T>G
n.550T>G
n.1051T>G
n.385T>G
n.464T>G
c.4124T>G (p.Val1375Gly)
n.4420T>G
 COSMIC COSMIC
2g.71611625T=CA1260124202DYSFc.1634T= (p.Val545=)
c.851T= (p.Val284=)
c.809T= (p.Val270=)
c.4166T= (p.Val1389=)
c.4220T= (p.Val1407=)
c.4169T= (p.Val1390=)
c.4217T= (p.Val1406=)
c.4262T= (p.Val1421=)
c.4127T= (p.Val1376=)
c.4259T= (p.Val1420=)
n.402T=
n.550T=
n.1051T=
n.385T=
n.464T=
c.4124T= (p.Val1375=)
n.4420T=
2g.71611626G>ACA426758865DYSFc.1635G>A (p.Val545=)
c.852G>A (p.Val284=)
c.810G>A (p.Val270=)
c.4167G>A (p.Val1389=)
c.4221G>A (p.Val1407=)
c.4170G>A (p.Val1390=)
c.4218G>A (p.Val1406=)
c.4263G>A (p.Val1421=)
c.4128G>A (p.Val1376=)
c.4260G>A (p.Val1420=)
n.403G>A
n.551G>A
n.1052G>A
n.386G>A
n.465G>A
c.4125G>A (p.Val1375=)
n.4421G>A
 gnomAD v4 COSMIC COSMIC
2g.71611626G>CCA426758866DYSFc.1635G>C (p.Val545=)
c.852G>C (p.Val284=)
c.810G>C (p.Val270=)
c.4167G>C (p.Val1389=)
c.4221G>C (p.Val1407=)
c.4170G>C (p.Val1390=)
c.4218G>C (p.Val1406=)
c.4263G>C (p.Val1421=)
c.4128G>C (p.Val1376=)
c.4260G>C (p.Val1420=)
n.403G>C
n.551G>C
n.1052G>C
n.386G>C
n.465G>C
c.4125G>C (p.Val1375=)
n.4421G>C
2g.71611626G=CA1260124203DYSFc.1635G= (p.Val545=)
c.852G= (p.Val284=)
c.810G= (p.Val270=)
c.4167G= (p.Val1389=)
c.4221G= (p.Val1407=)
c.4170G= (p.Val1390=)
c.4218G= (p.Val1406=)
c.4263G= (p.Val1421=)
c.4128G= (p.Val1376=)
c.4260G= (p.Val1420=)
n.403G=
n.551G=
n.1052G=
n.386G=
n.465G=
c.4125G= (p.Val1375=)
n.4421G=
2g.71611626G>TCA426758867DYSFc.1635G>T (p.Val545=)
c.852G>T (p.Val284=)
c.810G>T (p.Val270=)
c.4167G>T (p.Val1389=)
c.4221G>T (p.Val1407=)
c.4170G>T (p.Val1390=)
c.4218G>T (p.Val1406=)
c.4263G>T (p.Val1421=)
c.4128G>T (p.Val1376=)
c.4260G>T (p.Val1420=)
n.403G>T
n.551G>T
n.1052G>T
n.386G>T
n.465G>T
c.4125G>T (p.Val1375=)
n.4421G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71611627G>ACA347228986DYSFc.1635+1G>A (n.1635+1G>A)
c.852+1G>A (n.852+1G>A)
c.810+1G>A (n.810+1G>A)
c.4167+1G>A (n.4167+1G>A)
c.4221+1G>A (n.4221+1G>A)
c.4170+1G>A (n.4170+1G>A)
c.4218+1G>A (n.4218+1G>A)
c.4263+1G>A (n.4263+1G>A)
c.4128+1G>A (n.4128+1G>A)
c.4260+1G>A (n.4260+1G>A)
n.403+1G>A
n.551+1G>A
n.1052+1G>A
n.386+1G>A
n.465+1G>A
c.4125+1G>A (n.4125+1G>A)
n.4421+1G>A
2g.71611627G>CCA347228990DYSFc.1635+1G>C (n.1635+1G>C)
c.852+1G>C (n.852+1G>C)
c.810+1G>C (n.810+1G>C)
c.4167+1G>C (n.4167+1G>C)
c.4221+1G>C (n.4221+1G>C)
c.4170+1G>C (n.4170+1G>C)
c.4218+1G>C (n.4218+1G>C)
c.4263+1G>C (n.4263+1G>C)
c.4128+1G>C (n.4128+1G>C)
c.4260+1G>C (n.4260+1G>C)
n.403+1G>C
n.551+1G>C
n.1052+1G>C
n.386+1G>C
n.465+1G>C
c.4125+1G>C (n.4125+1G>C)
n.4421+1G>C
 ClinVar dbSNP
2g.71611627G=CA1260124204DYSFc.1635+1G= (n.1635+1G=)
c.852+1G= (n.852+1G=)
c.810+1G= (n.810+1G=)
c.4167+1G= (n.4167+1G=)
c.4221+1G= (n.4221+1G=)
c.4170+1G= (n.4170+1G=)
c.4218+1G= (n.4218+1G=)
c.4263+1G= (n.4263+1G=)
c.4128+1G= (n.4128+1G=)
c.4260+1G= (n.4260+1G=)
n.403+1G=
n.551+1G=
n.1052+1G=
n.386+1G=
n.465+1G=
c.4125+1G= (n.4125+1G=)
n.4421+1G=
2g.71611627G>TCA347228988DYSFc.1635+1G>T (n.1635+1G>T)
c.852+1G>T (n.852+1G>T)
c.810+1G>T (n.810+1G>T)
c.4167+1G>T (n.4167+1G>T)
c.4221+1G>T (n.4221+1G>T)
c.4170+1G>T (n.4170+1G>T)
c.4218+1G>T (n.4218+1G>T)
c.4263+1G>T (n.4263+1G>T)
c.4128+1G>T (n.4128+1G>T)
c.4260+1G>T (n.4260+1G>T)
n.403+1G>T
n.551+1G>T
n.1052+1G>T
n.386+1G>T
n.465+1G>T
c.4125+1G>T (n.4125+1G>T)
n.4421+1G>T
 ClinVar
2g.71611628T>ACA347228994DYSFc.1635+2T>A (n.1635+2T>A)
c.852+2T>A (n.852+2T>A)
c.810+2T>A (n.810+2T>A)
c.4167+2T>A (n.4167+2T>A)
c.4221+2T>A (n.4221+2T>A)
c.4170+2T>A (n.4170+2T>A)
c.4218+2T>A (n.4218+2T>A)
c.4263+2T>A (n.4263+2T>A)
c.4128+2T>A (n.4128+2T>A)
c.4260+2T>A (n.4260+2T>A)
n.403+2T>A
n.551+2T>A
n.1052+2T>A
n.386+2T>A
n.465+2T>A
c.4125+2T>A (n.4125+2T>A)
n.4421+2T>A
2g.71611628T>CCA347228996DYSFc.1635+2T>C (n.1635+2T>C)
c.852+2T>C (n.852+2T>C)
c.810+2T>C (n.810+2T>C)
c.4167+2T>C (n.4167+2T>C)
c.4221+2T>C (n.4221+2T>C)
c.4170+2T>C (n.4170+2T>C)
c.4218+2T>C (n.4218+2T>C)
c.4263+2T>C (n.4263+2T>C)
c.4128+2T>C (n.4128+2T>C)
c.4260+2T>C (n.4260+2T>C)
n.403+2T>C
n.551+2T>C
n.1052+2T>C
n.386+2T>C
n.465+2T>C
c.4125+2T>C (n.4125+2T>C)
n.4421+2T>C
2g.71611628T>GCA347228998DYSFc.1635+2T>G (n.1635+2T>G)
c.852+2T>G (n.852+2T>G)
c.810+2T>G (n.810+2T>G)
c.4167+2T>G (n.4167+2T>G)
c.4221+2T>G (n.4221+2T>G)
c.4170+2T>G (n.4170+2T>G)
c.4218+2T>G (n.4218+2T>G)
c.4263+2T>G (n.4263+2T>G)
c.4128+2T>G (n.4128+2T>G)
c.4260+2T>G (n.4260+2T>G)
n.403+2T>G
n.551+2T>G
n.1052+2T>G
n.386+2T>G
n.465+2T>G
c.4125+2T>G (n.4125+2T>G)
n.4421+2T>G
2g.71611629G>ACA49779157DYSFc.1635+3G>A (n.1635+3G>A)
c.852+3G>A (n.852+3G>A)
c.810+3G>A (n.810+3G>A)
c.4167+3G>A (n.4167+3G>A)
c.4221+3G>A (n.4221+3G>A)
c.4170+3G>A (n.4170+3G>A)
c.4218+3G>A (n.4218+3G>A)
c.4263+3G>A (n.4263+3G>A)
c.4128+3G>A (n.4128+3G>A)
c.4260+3G>A (n.4260+3G>A)
n.403+3G>A
n.551+3G>A
n.1052+3G>A
n.386+3G>A
n.465+3G>A
c.4125+3G>A (n.4125+3G>A)
n.4421+3G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611629G=CA1260124205DYSFc.1635+3G= (n.1635+3G=)
c.852+3G= (n.852+3G=)
c.810+3G= (n.810+3G=)
c.4167+3G= (n.4167+3G=)
c.4221+3G= (n.4221+3G=)
c.4170+3G= (n.4170+3G=)
c.4218+3G= (n.4218+3G=)
c.4263+3G= (n.4263+3G=)
c.4128+3G= (n.4128+3G=)
c.4260+3G= (n.4260+3G=)
n.403+3G=
n.551+3G=
n.1052+3G=
n.386+3G=
n.465+3G=
c.4125+3G= (n.4125+3G=)
n.4421+3G=
2g.71611630_71611631delinsAGCA1260124206DYSFc.1635+4_1635+5delinsAG (n.1635+4_1635+5delinsAG)
c.852+4_852+5delinsAG (n.852+4_852+5delinsAG)
c.810+4_810+5delinsAG (n.810+4_810+5delinsAG)
c.4167+4_4167+5delinsAG (n.4167+4_4167+5delinsAG)
c.4221+4_4221+5delinsAG (n.4221+4_4221+5delinsAG)
c.4170+4_4170+5delinsAG (n.4170+4_4170+5delinsAG)
c.4218+4_4218+5delinsAG (n.4218+4_4218+5delinsAG)
c.4263+4_4263+5delinsAG (n.4263+4_4263+5delinsAG)
c.4128+4_4128+5delinsAG (n.4128+4_4128+5delinsAG)
c.4260+4_4260+5delinsAG (n.4260+4_4260+5delinsAG)
n.403+4_403+5delinsAG
n.551+4_551+5delinsAG
n.1052+4_1052+5delinsAG
n.386+4_386+5delinsAG
n.465+4_465+5delinsAG
c.4125+4_4125+5delinsAG (n.4125+4_4125+5delinsAG)
n.4421+4_4421+5delinsAG
2g.71611631delCA658820644DYSFc.1635+5del (n.1635+5del)
c.852+5del (n.852+5del)
c.810+5del (n.810+5del)
c.4167+5del (n.4167+5del)
c.4221+5del (n.4221+5del)
c.4170+5del (n.4170+5del)
c.4218+5del (n.4218+5del)
c.4263+5del (n.4263+5del)
c.4128+5del (n.4128+5del)
c.4260+5del (n.4260+5del)
n.403+5del
n.551+5del
n.1052+5del
n.386+5del
n.465+5del
c.4125+5del (n.4125+5del)
n.4421+5del
 ClinVar dbSNP

Number of alleles fetched