Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched