Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71611534G>A | CA1706899 | DYSF | c.1543G>A (p.Val515Ile) c.760G>A (p.Val254Ile) c.718G>A (p.Val240Ile) c.4075G>A (p.Val1359Ile) c.4129G>A (p.Val1377Ile) c.4078G>A (p.Val1360Ile) c.4126G>A (p.Val1376Ile) c.4171G>A (p.Val1391Ile) c.4036G>A (p.Val1346Ile) c.4168G>A (p.Val1390Ile) n.311G>A n.459G>A n.960G>A n.294G>A n.373G>A c.4033G>A (p.Val1345Ile) n.4329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71611534G>C | CA347228526 | DYSF | c.1543G>C (p.Val515Leu) c.760G>C (p.Val254Leu) c.718G>C (p.Val240Leu) c.4075G>C (p.Val1359Leu) c.4129G>C (p.Val1377Leu) c.4078G>C (p.Val1360Leu) c.4126G>C (p.Val1376Leu) c.4171G>C (p.Val1391Leu) c.4036G>C (p.Val1346Leu) c.4168G>C (p.Val1390Leu) n.311G>C n.459G>C n.960G>C n.294G>C n.373G>C c.4033G>C (p.Val1345Leu) n.4329G>C | |
2 | g.71611534G= | CA1260124155 | DYSF | c.1543G= (p.Val515=) c.760G= (p.Val254=) c.718G= (p.Val240=) c.4075G= (p.Val1359=) c.4129G= (p.Val1377=) c.4078G= (p.Val1360=) c.4126G= (p.Val1376=) c.4171G= (p.Val1391=) c.4036G= (p.Val1346=) c.4168G= (p.Val1390=) n.311G= n.459G= n.960G= n.294G= n.373G= c.4033G= (p.Val1345=) n.4329G= | |
2 | g.71611534G>T | CA347228527 | DYSF | c.1543G>T (p.Val515Leu) c.760G>T (p.Val254Leu) c.718G>T (p.Val240Leu) c.4075G>T (p.Val1359Leu) c.4129G>T (p.Val1377Leu) c.4078G>T (p.Val1360Leu) c.4126G>T (p.Val1376Leu) c.4171G>T (p.Val1391Leu) c.4036G>T (p.Val1346Leu) c.4168G>T (p.Val1390Leu) n.311G>T n.459G>T n.960G>T n.294G>T n.373G>T c.4033G>T (p.Val1345Leu) n.4329G>T | dbSNP gnomAD v4 |
2 | g.71611535T>A | CA347228528 | DYSF | c.1544T>A (p.Val515Glu) c.761T>A (p.Val254Glu) c.719T>A (p.Val240Glu) c.4076T>A (p.Val1359Glu) c.4130T>A (p.Val1377Glu) c.4079T>A (p.Val1360Glu) c.4127T>A (p.Val1376Glu) c.4172T>A (p.Val1391Glu) c.4037T>A (p.Val1346Glu) c.4169T>A (p.Val1390Glu) n.312T>A n.460T>A n.961T>A n.295T>A n.374T>A c.4034T>A (p.Val1345Glu) n.4330T>A | |
2 | g.71611535T>C | CA347228529 | DYSF | c.1544T>C (p.Val515Ala) c.761T>C (p.Val254Ala) c.719T>C (p.Val240Ala) c.4076T>C (p.Val1359Ala) c.4130T>C (p.Val1377Ala) c.4079T>C (p.Val1360Ala) c.4127T>C (p.Val1376Ala) c.4172T>C (p.Val1391Ala) c.4037T>C (p.Val1346Ala) c.4169T>C (p.Val1390Ala) n.312T>C n.460T>C n.961T>C n.295T>C n.374T>C c.4034T>C (p.Val1345Ala) n.4330T>C | |
2 | g.71611535T>G | CA347228530 | DYSF | c.1544T>G (p.Val515Gly) c.761T>G (p.Val254Gly) c.719T>G (p.Val240Gly) c.4076T>G (p.Val1359Gly) c.4130T>G (p.Val1377Gly) c.4079T>G (p.Val1360Gly) c.4127T>G (p.Val1376Gly) c.4172T>G (p.Val1391Gly) c.4037T>G (p.Val1346Gly) c.4169T>G (p.Val1390Gly) n.312T>G n.460T>G n.961T>G n.295T>G n.374T>G c.4034T>G (p.Val1345Gly) n.4330T>G | |
2 | g.71611536A>C | CA426758615 | DYSF | c.1545A>C (p.Val515=) c.762A>C (p.Val254=) c.720A>C (p.Val240=) c.4077A>C (p.Val1359=) c.4131A>C (p.Val1377=) c.4080A>C (p.Val1360=) c.4128A>C (p.Val1376=) c.4173A>C (p.Val1391=) c.4038A>C (p.Val1346=) c.4170A>C (p.Val1390=) n.313A>C n.461A>C n.962A>C n.296A>C n.375A>C c.4035A>C (p.Val1345=) n.4331A>C | |
2 | g.71611536A>G | CA426758614 | DYSF | c.1545A>G (p.Val515=) c.762A>G (p.Val254=) c.720A>G (p.Val240=) c.4077A>G (p.Val1359=) c.4131A>G (p.Val1377=) c.4080A>G (p.Val1360=) c.4128A>G (p.Val1376=) c.4173A>G (p.Val1391=) c.4038A>G (p.Val1346=) c.4170A>G (p.Val1390=) n.313A>G n.461A>G n.962A>G n.296A>G n.375A>G c.4035A>G (p.Val1345=) n.4331A>G | |
2 | g.71611536A>T | CA426758613 | DYSF | c.1545A>T (p.Val515=) c.762A>T (p.Val254=) c.720A>T (p.Val240=) c.4077A>T (p.Val1359=) c.4131A>T (p.Val1377=) c.4080A>T (p.Val1360=) c.4128A>T (p.Val1376=) c.4173A>T (p.Val1391=) c.4038A>T (p.Val1346=) c.4170A>T (p.Val1390=) n.313A>T n.461A>T n.962A>T n.296A>T n.375A>T c.4035A>T (p.Val1345=) n.4331A>T | |
2 | g.71611537G>A | CA347228531 | DYSF | c.1546G>A (p.Glu516Lys) c.763G>A (p.Glu255Lys) c.721G>A (p.Glu241Lys) c.4078G>A (p.Glu1360Lys) c.4132G>A (p.Glu1378Lys) c.4081G>A (p.Glu1361Lys) c.4129G>A (p.Glu1377Lys) c.4174G>A (p.Glu1392Lys) c.4039G>A (p.Glu1347Lys) c.4171G>A (p.Glu1391Lys) n.314G>A n.462G>A n.963G>A n.297G>A n.376G>A c.4036G>A (p.Glu1346Lys) n.4332G>A | gnomAD v4 |
2 | g.71611537G>C | CA347228532 | DYSF | c.1546G>C (p.Glu516Gln) c.763G>C (p.Glu255Gln) c.721G>C (p.Glu241Gln) c.4078G>C (p.Glu1360Gln) c.4132G>C (p.Glu1378Gln) c.4081G>C (p.Glu1361Gln) c.4129G>C (p.Glu1377Gln) c.4174G>C (p.Glu1392Gln) c.4039G>C (p.Glu1347Gln) c.4171G>C (p.Glu1391Gln) n.314G>C n.462G>C n.963G>C n.297G>C n.376G>C c.4036G>C (p.Glu1346Gln) n.4332G>C | |
2 | g.71611537G>T | CA347228533 | DYSF | c.1546G>T (p.Glu516Ter) c.763G>T (p.Glu255Ter) c.721G>T (p.Glu241Ter) c.4078G>T (p.Glu1360Ter) c.4132G>T (p.Glu1378Ter) c.4081G>T (p.Glu1361Ter) c.4129G>T (p.Glu1377Ter) c.4174G>T (p.Glu1392Ter) c.4039G>T (p.Glu1347Ter) c.4171G>T (p.Glu1391Ter) n.314G>T n.462G>T n.963G>T n.297G>T n.376G>T c.4036G>T (p.Glu1346Ter) n.4332G>T | |
2 | g.71611538A>C | CA347228535 | DYSF | c.1547A>C (p.Glu516Ala) c.764A>C (p.Glu255Ala) c.722A>C (p.Glu241Ala) c.4079A>C (p.Glu1360Ala) c.4133A>C (p.Glu1378Ala) c.4082A>C (p.Glu1361Ala) c.4130A>C (p.Glu1377Ala) c.4175A>C (p.Glu1392Ala) c.4040A>C (p.Glu1347Ala) c.4172A>C (p.Glu1391Ala) n.315A>C n.463A>C n.964A>C n.298A>C n.377A>C c.4037A>C (p.Glu1346Ala) n.4333A>C | gnomAD v4 |
2 | g.71611538A>G | CA347228536 | DYSF | c.1547A>G (p.Glu516Gly) c.764A>G (p.Glu255Gly) c.722A>G (p.Glu241Gly) c.4079A>G (p.Glu1360Gly) c.4133A>G (p.Glu1378Gly) c.4082A>G (p.Glu1361Gly) c.4130A>G (p.Glu1377Gly) c.4175A>G (p.Glu1392Gly) c.4040A>G (p.Glu1347Gly) c.4172A>G (p.Glu1391Gly) n.315A>G n.463A>G n.964A>G n.298A>G n.377A>G c.4037A>G (p.Glu1346Gly) n.4333A>G | |
2 | g.71611538A>T | CA347228534 | DYSF | c.1547A>T (p.Glu516Val) c.764A>T (p.Glu255Val) c.722A>T (p.Glu241Val) c.4079A>T (p.Glu1360Val) c.4133A>T (p.Glu1378Val) c.4082A>T (p.Glu1361Val) c.4130A>T (p.Glu1377Val) c.4175A>T (p.Glu1392Val) c.4040A>T (p.Glu1347Val) c.4172A>T (p.Glu1391Val) n.315A>T n.463A>T n.964A>T n.298A>T n.377A>T c.4037A>T (p.Glu1346Val) n.4333A>T | |
2 | g.71611539G>A | CA426758640 | DYSF | c.1548G>A (p.Glu516=) c.765G>A (p.Glu255=) c.723G>A (p.Glu241=) c.4080G>A (p.Glu1360=) c.4134G>A (p.Glu1378=) c.4083G>A (p.Glu1361=) c.4131G>A (p.Glu1377=) c.4176G>A (p.Glu1392=) c.4041G>A (p.Glu1347=) c.4173G>A (p.Glu1391=) n.316G>A n.464G>A n.965G>A n.299G>A n.378G>A c.4038G>A (p.Glu1346=) n.4334G>A | gnomAD v4 |
2 | g.71611539G>C | CA347228537 | DYSF | c.1548G>C (p.Glu516Asp) c.765G>C (p.Glu255Asp) c.723G>C (p.Glu241Asp) c.4080G>C (p.Glu1360Asp) c.4134G>C (p.Glu1378Asp) c.4083G>C (p.Glu1361Asp) c.4131G>C (p.Glu1377Asp) c.4176G>C (p.Glu1392Asp) c.4041G>C (p.Glu1347Asp) c.4173G>C (p.Glu1391Asp) n.316G>C n.464G>C n.965G>C n.299G>C n.378G>C c.4038G>C (p.Glu1346Asp) n.4334G>C | |
2 | g.71611539G>T | CA347228538 | DYSF | c.1548G>T (p.Glu516Asp) c.765G>T (p.Glu255Asp) c.723G>T (p.Glu241Asp) c.4080G>T (p.Glu1360Asp) c.4134G>T (p.Glu1378Asp) c.4083G>T (p.Glu1361Asp) c.4131G>T (p.Glu1377Asp) c.4176G>T (p.Glu1392Asp) c.4041G>T (p.Glu1347Asp) c.4173G>T (p.Glu1391Asp) n.316G>T n.464G>T n.965G>T n.299G>T n.378G>T c.4038G>T (p.Glu1346Asp) n.4334G>T | |
2 | g.71611540T>A | CA347228539 | DYSF | c.1549T>A (p.Cys517Ser) c.766T>A (p.Cys256Ser) c.724T>A (p.Cys242Ser) c.4081T>A (p.Cys1361Ser) c.4135T>A (p.Cys1379Ser) c.4084T>A (p.Cys1362Ser) c.4132T>A (p.Cys1378Ser) c.4177T>A (p.Cys1393Ser) c.4042T>A (p.Cys1348Ser) c.4174T>A (p.Cys1392Ser) n.317T>A n.465T>A n.966T>A n.300T>A n.379T>A c.4039T>A (p.Cys1347Ser) n.4335T>A | |
2 | g.71611540T>C | CA1706900 | DYSF | c.1549T>C (p.Cys517Arg) c.766T>C (p.Cys256Arg) c.724T>C (p.Cys242Arg) c.4081T>C (p.Cys1361Arg) c.4135T>C (p.Cys1379Arg) c.4084T>C (p.Cys1362Arg) c.4132T>C (p.Cys1378Arg) c.4177T>C (p.Cys1393Arg) c.4042T>C (p.Cys1348Arg) c.4174T>C (p.Cys1392Arg) n.317T>C n.465T>C n.966T>C n.300T>C n.379T>C c.4039T>C (p.Cys1347Arg) n.4335T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71611540T>G | CA347228540 | DYSF | c.1549T>G (p.Cys517Gly) c.766T>G (p.Cys256Gly) c.724T>G (p.Cys242Gly) c.4081T>G (p.Cys1361Gly) c.4135T>G (p.Cys1379Gly) c.4084T>G (p.Cys1362Gly) c.4132T>G (p.Cys1378Gly) c.4177T>G (p.Cys1393Gly) c.4042T>G (p.Cys1348Gly) c.4174T>G (p.Cys1392Gly) n.317T>G n.465T>G n.966T>G n.300T>G n.379T>G c.4039T>G (p.Cys1347Gly) n.4335T>G | gnomAD v4 |
2 | g.71611540T= | CA1260124156 | DYSF | c.1549T= (p.Cys517=) c.766T= (p.Cys256=) c.724T= (p.Cys242=) c.4081T= (p.Cys1361=) c.4135T= (p.Cys1379=) c.4084T= (p.Cys1362=) c.4132T= (p.Cys1378=) c.4177T= (p.Cys1393=) c.4042T= (p.Cys1348=) c.4174T= (p.Cys1392=) n.317T= n.465T= n.966T= n.300T= n.379T= c.4039T= (p.Cys1347=) n.4335T= | |
2 | g.71611541G>A | CA347228543 | DYSF | c.1550G>A (p.Cys517Tyr) c.767G>A (p.Cys256Tyr) c.725G>A (p.Cys242Tyr) c.4082G>A (p.Cys1361Tyr) c.4136G>A (p.Cys1379Tyr) c.4085G>A (p.Cys1362Tyr) c.4133G>A (p.Cys1378Tyr) c.4178G>A (p.Cys1393Tyr) c.4043G>A (p.Cys1348Tyr) c.4175G>A (p.Cys1392Tyr) n.318G>A n.466G>A n.967G>A n.301G>A n.380G>A c.4040G>A (p.Cys1347Tyr) n.4336G>A | gnomAD v4 |
2 | g.71611541G>C | CA347228541 | DYSF | c.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 | |
2 | g.71611541G>T | CA347228542 | DYSF | c.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 | |
2 | g.71611542del | CA658820650 | DYSF | c.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 | |
2 | g.71611542T>A | CA347228544 | DYSF | c.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 | |
2 | g.71611542T>C | CA426758647 | DYSF | c.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 |
2 | g.71611542T>G | CA1706901 | DYSF | c.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 |
2 | g.71611542T= | CA1260124157 | DYSF | c.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= | |
2 | g.71611542dup | CA2750416525 | DYSF | c.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 | |
2 | g.71611543G>A | CA347228545 | DYSF | c.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 |
2 | g.71611543G>C | CA347228546 | DYSF | c.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 |
2 | g.71611543G= | CA1260124158 | DYSF | c.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= | |
2 | g.71611543G>T | CA347228547 | DYSF | c.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 | |
2 | g.71611547dup | CA2740095629 | DYSF | c.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 |
2 | g.71611546_71611547del | CA2697548250 | DYSF | c.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 |
2 | g.71611544G>A | CA347228550 | DYSF | c.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 | |
2 | g.71611544G>C | CA347228549 | DYSF | c.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 | |
2 | g.71611544G>T | CA347228548 | DYSF | c.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 | |
2 | g.71611545G>A | CA426758653 | DYSF | c.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 | |
2 | g.71611545G>C | CA426758655 | DYSF | c.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 | |
2 | g.71611545G>T | CA426758657 | DYSF | c.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 | |
2 | g.71611546G>A | CA347228551 | DYSF | c.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 | |
2 | g.71611546G>C | CA347228553 | DYSF | c.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 | |
2 | g.71611546G>T | CA347228552 | DYSF | c.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 | |
2 | g.71611547G>A | CA347228554 | DYSF | c.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 | |
2 | g.71611547G>C | CA1706902 | DYSF | c.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 |
2 | g.71611547G= | CA1260124159 | DYSF | c.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= |