Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71611506G>ACA426758871DYSFc.1515G>A (p.Leu505=)
c.732G>A (p.Leu244=)
c.690G>A (p.Leu230=)
c.4047G>A (p.Leu1349=)
c.4101G>A (p.Leu1367=)
c.4050G>A (p.Leu1350=)
c.4098G>A (p.Leu1366=)
c.4143G>A (p.Leu1381=)
c.4008G>A (p.Leu1336=)
c.4140G>A (p.Leu1380=)
n.283G>A
n.431G>A
n.932G>A
n.266G>A
n.366-21G>A
c.4005G>A (p.Leu1335=)
n.4301G>A
2g.71611506G>CCA426758872DYSFc.1515G>C (p.Leu505=)
c.732G>C (p.Leu244=)
c.690G>C (p.Leu230=)
c.4047G>C (p.Leu1349=)
c.4101G>C (p.Leu1367=)
c.4050G>C (p.Leu1350=)
c.4098G>C (p.Leu1366=)
c.4143G>C (p.Leu1381=)
c.4008G>C (p.Leu1336=)
c.4140G>C (p.Leu1380=)
n.283G>C
n.431G>C
n.932G>C
n.266G>C
n.366-21G>C
c.4005G>C (p.Leu1335=)
n.4301G>C
2g.71611506G>TCA426758873DYSFc.1515G>T (p.Leu505=)
c.732G>T (p.Leu244=)
c.690G>T (p.Leu230=)
c.4047G>T (p.Leu1349=)
c.4101G>T (p.Leu1367=)
c.4050G>T (p.Leu1350=)
c.4098G>T (p.Leu1366=)
c.4143G>T (p.Leu1381=)
c.4008G>T (p.Leu1336=)
c.4140G>T (p.Leu1380=)
n.283G>T
n.431G>T
n.932G>T
n.266G>T
n.366-21G>T
c.4005G>T (p.Leu1335=)
n.4301G>T
2g.71611507G>ACA347228472DYSFc.1516G>A (p.Ala506Thr)
c.733G>A (p.Ala245Thr)
c.691G>A (p.Ala231Thr)
c.4048G>A (p.Ala1350Thr)
c.4102G>A (p.Ala1368Thr)
c.4051G>A (p.Ala1351Thr)
c.4099G>A (p.Ala1367Thr)
c.4144G>A (p.Ala1382Thr)
c.4009G>A (p.Ala1337Thr)
c.4141G>A (p.Ala1381Thr)
n.284G>A
n.432G>A
n.933G>A
n.267G>A
n.366-20G>A
c.4006G>A (p.Ala1336Thr)
n.4302G>A
 dbSNP
2g.71611507G>CCA347228473DYSFc.1516G>C (p.Ala506Pro)
c.733G>C (p.Ala245Pro)
c.691G>C (p.Ala231Pro)
c.4048G>C (p.Ala1350Pro)
c.4102G>C (p.Ala1368Pro)
c.4051G>C (p.Ala1351Pro)
c.4099G>C (p.Ala1367Pro)
c.4144G>C (p.Ala1382Pro)
c.4009G>C (p.Ala1337Pro)
c.4141G>C (p.Ala1381Pro)
n.284G>C
n.432G>C
n.933G>C
n.267G>C
n.366-20G>C
c.4006G>C (p.Ala1336Pro)
n.4302G>C
2g.71611507G=CA1260124137DYSFc.1516G= (p.Ala506=)
c.733G= (p.Ala245=)
c.691G= (p.Ala231=)
c.4048G= (p.Ala1350=)
c.4102G= (p.Ala1368=)
c.4051G= (p.Ala1351=)
c.4099G= (p.Ala1367=)
c.4144G= (p.Ala1382=)
c.4009G= (p.Ala1337=)
c.4141G= (p.Ala1381=)
n.284G=
n.432G=
n.933G=
n.267G=
n.366-20G=
c.4006G= (p.Ala1336=)
n.4302G=
2g.71611507G>TCA347228474DYSFc.1516G>T (p.Ala506Ser)
c.733G>T (p.Ala245Ser)
c.691G>T (p.Ala231Ser)
c.4048G>T (p.Ala1350Ser)
c.4102G>T (p.Ala1368Ser)
c.4051G>T (p.Ala1351Ser)
c.4099G>T (p.Ala1367Ser)
c.4144G>T (p.Ala1382Ser)
c.4009G>T (p.Ala1337Ser)
c.4141G>T (p.Ala1381Ser)
n.284G>T
n.432G>T
n.933G>T
n.267G>T
n.366-20G>T
c.4006G>T (p.Ala1336Ser)
n.4302G>T
2g.71611508C>ACA347228475DYSFc.1517C>A (p.Ala506Asp)
c.734C>A (p.Ala245Asp)
c.692C>A (p.Ala231Asp)
c.4049C>A (p.Ala1350Asp)
c.4103C>A (p.Ala1368Asp)
c.4052C>A (p.Ala1351Asp)
c.4100C>A (p.Ala1367Asp)
c.4145C>A (p.Ala1382Asp)
c.4010C>A (p.Ala1337Asp)
c.4142C>A (p.Ala1381Asp)
n.285C>A
n.433C>A
n.934C>A
n.268C>A
n.366-19C>A
c.4007C>A (p.Ala1336Asp)
n.4303C>A
2g.71611508C>GCA347228476DYSFc.1517C>G (p.Ala506Gly)
c.734C>G (p.Ala245Gly)
c.692C>G (p.Ala231Gly)
c.4049C>G (p.Ala1350Gly)
c.4103C>G (p.Ala1368Gly)
c.4052C>G (p.Ala1351Gly)
c.4100C>G (p.Ala1367Gly)
c.4145C>G (p.Ala1382Gly)
c.4010C>G (p.Ala1337Gly)
c.4142C>G (p.Ala1381Gly)
n.285C>G
n.433C>G
n.934C>G
n.268C>G
n.366-19C>G
c.4007C>G (p.Ala1336Gly)
n.4303C>G
2g.71611508C>TCA347228477DYSFc.1517C>T (p.Ala506Val)
c.734C>T (p.Ala245Val)
c.692C>T (p.Ala231Val)
c.4049C>T (p.Ala1350Val)
c.4103C>T (p.Ala1368Val)
c.4052C>T (p.Ala1351Val)
c.4100C>T (p.Ala1367Val)
c.4145C>T (p.Ala1382Val)
c.4010C>T (p.Ala1337Val)
c.4142C>T (p.Ala1381Val)
n.285C>T
n.433C>T
n.934C>T
n.268C>T
n.366-19C>T
c.4007C>T (p.Ala1336Val)
n.4303C>T
 gnomAD v4
2g.71611509C>ACA426758875DYSFc.1518C>A (p.Ala506=)
c.735C>A (p.Ala245=)
c.693C>A (p.Ala231=)
c.4050C>A (p.Ala1350=)
c.4104C>A (p.Ala1368=)
c.4053C>A (p.Ala1351=)
c.4101C>A (p.Ala1367=)
c.4146C>A (p.Ala1382=)
c.4011C>A (p.Ala1337=)
c.4143C>A (p.Ala1381=)
n.286C>A
n.434C>A
n.935C>A
n.269C>A
n.366-18C>A
c.4008C>A (p.Ala1336=)
n.4304C>A
2g.71611509C>GCA426758876DYSFc.1518C>G (p.Ala506=)
c.735C>G (p.Ala245=)
c.693C>G (p.Ala231=)
c.4050C>G (p.Ala1350=)
c.4104C>G (p.Ala1368=)
c.4053C>G (p.Ala1351=)
c.4101C>G (p.Ala1367=)
c.4146C>G (p.Ala1382=)
c.4011C>G (p.Ala1337=)
c.4143C>G (p.Ala1381=)
n.286C>G
n.434C>G
n.935C>G
n.269C>G
n.366-18C>G
c.4008C>G (p.Ala1336=)
n.4304C>G
2g.71611509C>TCA426758877DYSFc.1518C>T (p.Ala506=)
c.735C>T (p.Ala245=)
c.693C>T (p.Ala231=)
c.4050C>T (p.Ala1350=)
c.4104C>T (p.Ala1368=)
c.4053C>T (p.Ala1351=)
c.4101C>T (p.Ala1367=)
c.4146C>T (p.Ala1382=)
c.4011C>T (p.Ala1337=)
c.4143C>T (p.Ala1381=)
n.286C>T
n.434C>T
n.935C>T
n.269C>T
n.366-18C>T
c.4008C>T (p.Ala1336=)
n.4304C>T
2g.71611509_71611510delinsCACA1260124138DYSFc.1518_1519delinsCA (p.Ala506=)
c.735_736delinsCA (p.Ala245=)
c.693_694delinsCA (p.Ala231=)
c.4050_4051delinsCA (p.Ala1350=)
c.4104_4105delinsCA (p.Ala1368=)
c.4053_4054delinsCA (p.Ala1351=)
c.4101_4102delinsCA (p.Ala1367=)
c.4146_4147delinsCA (p.Ala1382=)
c.4011_4012delinsCA (p.Ala1337=)
c.4143_4144delinsCA (p.Ala1381=)
n.286_287delinsCA
n.434_435delinsCA
n.935_936delinsCA
n.269_270delinsCA
n.366-18_366-17delinsCA
c.4008_4009delinsCA (p.Ala1336=)
n.4304_4305delinsCA
2g.71611511_71611513delCA1032074284DYSFc.1520_1522del (p.Asn507del)
c.737_739del (p.Asn246del)
c.695_697del (p.Asn232del)
c.4052_4054del (p.Asn1351del)
c.4106_4108del (p.Asn1369del)
c.4055_4057del (p.Asn1352del)
c.4103_4105del (p.Asn1368del)
c.4148_4150del (p.Asn1383del)
c.4013_4015del (p.Asn1338del)
c.4145_4147del (p.Asn1382del)
n.288_290del
n.436_438del
n.937_939del
n.271_273del
n.366-16_366-14del
c.4010_4012del (p.Asn1337del)
n.4306_4308del
 gnomAD v3 gnomAD v4
2g.71611510A>CCA347228478DYSFc.1519A>C (p.Asn507His)
c.736A>C (p.Asn246His)
c.694A>C (p.Asn232His)
c.4051A>C (p.Asn1351His)
c.4105A>C (p.Asn1369His)
c.4054A>C (p.Asn1352His)
c.4102A>C (p.Asn1368His)
c.4147A>C (p.Asn1383His)
c.4012A>C (p.Asn1338His)
c.4144A>C (p.Asn1382His)
n.287A>C
n.435A>C
n.936A>C
n.270A>C
n.366-17A>C
c.4009A>C (p.Asn1337His)
n.4305A>C
2g.71611510A>GCA347228479DYSFc.1519A>G (p.Asn507Asp)
c.736A>G (p.Asn246Asp)
c.694A>G (p.Asn232Asp)
c.4051A>G (p.Asn1351Asp)
c.4105A>G (p.Asn1369Asp)
c.4054A>G (p.Asn1352Asp)
c.4102A>G (p.Asn1368Asp)
c.4147A>G (p.Asn1383Asp)
c.4012A>G (p.Asn1338Asp)
c.4144A>G (p.Asn1382Asp)
n.287A>G
n.435A>G
n.936A>G
n.270A>G
n.366-17A>G
c.4009A>G (p.Asn1337Asp)
n.4305A>G
 gnomAD v4
2g.71611510A>TCA347228480DYSFc.1519A>T (p.Asn507Tyr)
c.736A>T (p.Asn246Tyr)
c.694A>T (p.Asn232Tyr)
c.4051A>T (p.Asn1351Tyr)
c.4105A>T (p.Asn1369Tyr)
c.4054A>T (p.Asn1352Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4147A>T (p.Asn1383Tyr)
c.4012A>T (p.Asn1338Tyr)
c.4144A>T (p.Asn1382Tyr)
n.287A>T
n.435A>T
n.936A>T
n.270A>T
n.366-17A>T
c.4009A>T (p.Asn1337Tyr)
n.4305A>T
2g.71611511delCA1260124139DYSFc.1520del (p.Asn507ThrfsTer9)
c.737del (p.Asn246ThrfsTer9)
c.695del (p.Asn232ThrfsTer9)
c.4052del (p.Asn1351ThrfsTer9)
c.4106del (p.Asn1369ThrfsTer9)
c.4055del (p.Asn1352ThrfsTer9)
c.4103del (p.Asn1368ThrfsTer9)
c.4148del (p.Asn1383ThrfsTer9)
c.4013del (p.Asn1338ThrfsTer9)
c.4145del (p.Asn1382ThrfsTer9)
n.288del
n.436del
n.937del
n.271del
n.366-16del
c.4010del (p.Asn1337ThrfsTer9)
n.4306del
 dbSNP gnomAD v4
2g.71611511A=CA1260124140DYSFc.1520A= (p.Asn507=)
c.737A= (p.Asn246=)
c.695A= (p.Asn232=)
c.4052A= (p.Asn1351=)
c.4106A= (p.Asn1369=)
c.4055A= (p.Asn1352=)
c.4103A= (p.Asn1368=)
c.4148A= (p.Asn1383=)
c.4013A= (p.Asn1338=)
c.4145A= (p.Asn1382=)
n.288A=
n.436A=
n.937A=
n.271A=
n.366-16A=
c.4010A= (p.Asn1337=)
n.4306A=
2g.71611511A>CCA347228481DYSFc.1520A>C (p.Asn507Thr)
c.737A>C (p.Asn246Thr)
c.695A>C (p.Asn232Thr)
c.4052A>C (p.Asn1351Thr)
c.4106A>C (p.Asn1369Thr)
c.4055A>C (p.Asn1352Thr)
c.4103A>C (p.Asn1368Thr)
c.4148A>C (p.Asn1383Thr)
c.4013A>C (p.Asn1338Thr)
c.4145A>C (p.Asn1382Thr)
n.288A>C
n.436A>C
n.937A>C
n.271A>C
n.366-16A>C
c.4010A>C (p.Asn1337Thr)
n.4306A>C
2g.71611511A>GCA1706892DYSFc.1520A>G (p.Asn507Ser)
c.737A>G (p.Asn246Ser)
c.695A>G (p.Asn232Ser)
c.4052A>G (p.Asn1351Ser)
c.4106A>G (p.Asn1369Ser)
c.4055A>G (p.Asn1352Ser)
c.4103A>G (p.Asn1368Ser)
c.4148A>G (p.Asn1383Ser)
c.4013A>G (p.Asn1338Ser)
c.4145A>G (p.Asn1382Ser)
n.288A>G
n.436A>G
n.937A>G
n.271A>G
n.366-16A>G
c.4010A>G (p.Asn1337Ser)
n.4306A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611511A>TCA347228482DYSFc.1520A>T (p.Asn507Ile)
c.737A>T (p.Asn246Ile)
c.695A>T (p.Asn232Ile)
c.4052A>T (p.Asn1351Ile)
c.4106A>T (p.Asn1369Ile)
c.4055A>T (p.Asn1352Ile)
c.4103A>T (p.Asn1368Ile)
c.4148A>T (p.Asn1383Ile)
c.4013A>T (p.Asn1338Ile)
c.4145A>T (p.Asn1382Ile)
n.288A>T
n.436A>T
n.937A>T
n.271A>T
n.366-16A>T
c.4010A>T (p.Asn1337Ile)
n.4306A>T
2g.71611512C>ACA347228484DYSFc.1521C>A (p.Asn507Lys)
c.738C>A (p.Asn246Lys)
c.696C>A (p.Asn232Lys)
c.4053C>A (p.Asn1351Lys)
c.4107C>A (p.Asn1369Lys)
c.4056C>A (p.Asn1352Lys)
c.4104C>A (p.Asn1368Lys)
c.4149C>A (p.Asn1383Lys)
c.4014C>A (p.Asn1338Lys)
c.4146C>A (p.Asn1382Lys)
n.289C>A
n.437C>A
n.938C>A
n.272C>A
n.366-15C>A
c.4011C>A (p.Asn1337Lys)
n.4307C>A
2g.71611512C>GCA347228483DYSFc.1521C>G (p.Asn507Lys)
c.738C>G (p.Asn246Lys)
c.696C>G (p.Asn232Lys)
c.4053C>G (p.Asn1351Lys)
c.4107C>G (p.Asn1369Lys)
c.4056C>G (p.Asn1352Lys)
c.4104C>G (p.Asn1368Lys)
c.4149C>G (p.Asn1383Lys)
c.4014C>G (p.Asn1338Lys)
c.4146C>G (p.Asn1382Lys)
n.289C>G
n.437C>G
n.938C>G
n.272C>G
n.366-15C>G
c.4011C>G (p.Asn1337Lys)
n.4307C>G
2g.71611512C>TCA426758880DYSFc.1521C>T (p.Asn507=)
c.738C>T (p.Asn246=)
c.696C>T (p.Asn232=)
c.4053C>T (p.Asn1351=)
c.4107C>T (p.Asn1369=)
c.4056C>T (p.Asn1352=)
c.4104C>T (p.Asn1368=)
c.4149C>T (p.Asn1383=)
c.4014C>T (p.Asn1338=)
c.4146C>T (p.Asn1382=)
n.289C>T
n.437C>T
n.938C>T
n.272C>T
n.366-15C>T
c.4011C>T (p.Asn1337=)
n.4307C>T
2g.71611513A>CCA347228485DYSFc.1522A>C (p.Ile508Leu)
c.739A>C (p.Ile247Leu)
c.697A>C (p.Ile233Leu)
c.4054A>C (p.Ile1352Leu)
c.4108A>C (p.Ile1370Leu)
c.4057A>C (p.Ile1353Leu)
c.4105A>C (p.Ile1369Leu)
c.4150A>C (p.Ile1384Leu)
c.4015A>C (p.Ile1339Leu)
c.4147A>C (p.Ile1383Leu)
n.290A>C
n.438A>C
n.939A>C
n.273A>C
n.366-14A>C
c.4012A>C (p.Ile1338Leu)
n.4308A>C
2g.71611513A>GCA347228486DYSFc.1522A>G (p.Ile508Val)
c.739A>G (p.Ile247Val)
c.697A>G (p.Ile233Val)
c.4054A>G (p.Ile1352Val)
c.4108A>G (p.Ile1370Val)
c.4057A>G (p.Ile1353Val)
c.4105A>G (p.Ile1369Val)
c.4150A>G (p.Ile1384Val)
c.4015A>G (p.Ile1339Val)
c.4147A>G (p.Ile1383Val)
n.290A>G
n.438A>G
n.939A>G
n.273A>G
n.366-14A>G
c.4012A>G (p.Ile1338Val)
n.4308A>G
 gnomAD v4
2g.71611513A>TCA347228487DYSFc.1522A>T (p.Ile508Phe)
c.739A>T (p.Ile247Phe)
c.697A>T (p.Ile233Phe)
c.4054A>T (p.Ile1352Phe)
c.4108A>T (p.Ile1370Phe)
c.4057A>T (p.Ile1353Phe)
c.4105A>T (p.Ile1369Phe)
c.4150A>T (p.Ile1384Phe)
c.4015A>T (p.Ile1339Phe)
c.4147A>T (p.Ile1383Phe)
n.290A>T
n.438A>T
n.939A>T
n.273A>T
n.366-14A>T
c.4012A>T (p.Ile1338Phe)
n.4308A>T
2g.71611514T>ACA347228488DYSFc.1523T>A (p.Ile508Asn)
c.740T>A (p.Ile247Asn)
c.698T>A (p.Ile233Asn)
c.4055T>A (p.Ile1352Asn)
c.4109T>A (p.Ile1370Asn)
c.4058T>A (p.Ile1353Asn)
c.4106T>A (p.Ile1369Asn)
c.4151T>A (p.Ile1384Asn)
c.4016T>A (p.Ile1339Asn)
c.4148T>A (p.Ile1383Asn)
n.291T>A
n.439T>A
n.940T>A
n.274T>A
n.366-13T>A
c.4013T>A (p.Ile1338Asn)
n.4309T>A
2g.71611514T>CCA347228489DYSFc.1523T>C (p.Ile508Thr)
c.740T>C (p.Ile247Thr)
c.698T>C (p.Ile233Thr)
c.4055T>C (p.Ile1352Thr)
c.4109T>C (p.Ile1370Thr)
c.4058T>C (p.Ile1353Thr)
c.4106T>C (p.Ile1369Thr)
c.4151T>C (p.Ile1384Thr)
c.4016T>C (p.Ile1339Thr)
c.4148T>C (p.Ile1383Thr)
n.291T>C
n.439T>C
n.940T>C
n.274T>C
n.366-13T>C
c.4013T>C (p.Ile1338Thr)
n.4309T>C
2g.71611514T>GCA347228490DYSFc.1523T>G (p.Ile508Ser)
c.740T>G (p.Ile247Ser)
c.698T>G (p.Ile233Ser)
c.4055T>G (p.Ile1352Ser)
c.4109T>G (p.Ile1370Ser)
c.4058T>G (p.Ile1353Ser)
c.4106T>G (p.Ile1369Ser)
c.4151T>G (p.Ile1384Ser)
c.4016T>G (p.Ile1339Ser)
c.4148T>G (p.Ile1383Ser)
n.291T>G
n.439T>G
n.940T>G
n.274T>G
n.366-13T>G
c.4013T>G (p.Ile1338Ser)
n.4309T>G
2g.71611514_71611517delinsTCTCCA1260124141DYSFc.1523_1526delinsTCTC (p.Ile508=)
c.740_743delinsTCTC (p.Ile247=)
c.698_701delinsTCTC (p.Ile233=)
c.4055_4058delinsTCTC (p.Ile1352=)
c.4109_4112delinsTCTC (p.Ile1370=)
c.4058_4061delinsTCTC (p.Ile1353=)
c.4106_4109delinsTCTC (p.Ile1369=)
c.4151_4154delinsTCTC (p.Ile1384=)
c.4016_4019delinsTCTC (p.Ile1339=)
c.4148_4151delinsTCTC (p.Ile1383=)
n.291_294delinsTCTC
n.439_442delinsTCTC
n.940_943delinsTCTC
n.274_277delinsTCTC
n.366-13_366-10delinsTCTC
c.4013_4016delinsTCTC (p.Ile1338=)
n.4309_4312delinsTCTC
2g.71611515C>ACA426758885DYSFc.1524C>A (p.Ile508=)
c.741C>A (p.Ile247=)
c.699C>A (p.Ile233=)
c.4056C>A (p.Ile1352=)
c.4110C>A (p.Ile1370=)
c.4059C>A (p.Ile1353=)
c.4107C>A (p.Ile1369=)
c.4152C>A (p.Ile1384=)
c.4017C>A (p.Ile1339=)
c.4149C>A (p.Ile1383=)
n.292C>A
n.440C>A
n.941C>A
n.275C>A
n.366-12C>A
c.4014C>A (p.Ile1338=)
n.4310C>A
2g.71611515C>GCA347228491DYSFc.1524C>G (p.Ile508Met)
c.741C>G (p.Ile247Met)
c.699C>G (p.Ile233Met)
c.4056C>G (p.Ile1352Met)
c.4110C>G (p.Ile1370Met)
c.4059C>G (p.Ile1353Met)
c.4107C>G (p.Ile1369Met)
c.4152C>G (p.Ile1384Met)
c.4017C>G (p.Ile1339Met)
c.4149C>G (p.Ile1383Met)
n.292C>G
n.440C>G
n.941C>G
n.275C>G
n.366-12C>G
c.4014C>G (p.Ile1338Met)
n.4310C>G
2g.71611515C>TCA426758884DYSFc.1524C>T (p.Ile508=)
c.741C>T (p.Ile247=)
c.699C>T (p.Ile233=)
c.4056C>T (p.Ile1352=)
c.4110C>T (p.Ile1370=)
c.4059C>T (p.Ile1353=)
c.4107C>T (p.Ile1369=)
c.4152C>T (p.Ile1384=)
c.4017C>T (p.Ile1339=)
c.4149C>T (p.Ile1383=)
n.292C>T
n.440C>T
n.941C>T
n.275C>T
n.366-12C>T
c.4014C>T (p.Ile1338=)
n.4310C>T
2g.71611519_71611521delCA222161DYSFc.1528_1530del (p.Ser510del)
c.745_747del (p.Ser249del)
c.703_705del (p.Ser235del)
c.4060_4062del (p.Ser1354del)
c.4114_4116del (p.Ser1372del)
c.4063_4065del (p.Ser1355del)
c.4111_4113del (p.Ser1371del)
c.4156_4158del (p.Ser1386del)
c.4021_4023del (p.Ser1341del)
c.4153_4155del (p.Ser1385del)
n.296_298del
n.444_446del
n.945_947del
n.279_281del
n.366-8_366-6del
c.4018_4020del (p.Ser1340del)
n.4314_4316del
 ClinVar dbSNP gnomAD v4
2g.71611516T>ACA347228492DYSFc.1525T>A (p.Ser509Thr)
c.742T>A (p.Ser248Thr)
c.700T>A (p.Ser234Thr)
c.4057T>A (p.Ser1353Thr)
c.4111T>A (p.Ser1371Thr)
c.4060T>A (p.Ser1354Thr)
c.4108T>A (p.Ser1370Thr)
c.4153T>A (p.Ser1385Thr)
c.4018T>A (p.Ser1340Thr)
c.4150T>A (p.Ser1384Thr)
n.293T>A
n.441T>A
n.942T>A
n.276T>A
n.366-11T>A
c.4015T>A (p.Ser1339Thr)
n.4311T>A
2g.71611516T>CCA347228493DYSFc.1525T>C (p.Ser509Pro)
c.742T>C (p.Ser248Pro)
c.700T>C (p.Ser234Pro)
c.4057T>C (p.Ser1353Pro)
c.4111T>C (p.Ser1371Pro)
c.4060T>C (p.Ser1354Pro)
c.4108T>C (p.Ser1370Pro)
c.4153T>C (p.Ser1385Pro)
c.4018T>C (p.Ser1340Pro)
c.4150T>C (p.Ser1384Pro)
n.293T>C
n.441T>C
n.942T>C
n.276T>C
n.366-11T>C
c.4015T>C (p.Ser1339Pro)
n.4311T>C
2g.71611516T>GCA347228494DYSFc.1525T>G (p.Ser509Ala)
c.742T>G (p.Ser248Ala)
c.700T>G (p.Ser234Ala)
c.4057T>G (p.Ser1353Ala)
c.4111T>G (p.Ser1371Ala)
c.4060T>G (p.Ser1354Ala)
c.4108T>G (p.Ser1370Ala)
c.4153T>G (p.Ser1385Ala)
c.4018T>G (p.Ser1340Ala)
c.4150T>G (p.Ser1384Ala)
n.293T>G
n.441T>G
n.942T>G
n.276T>G
n.366-11T>G
c.4015T>G (p.Ser1339Ala)
n.4311T>G
2g.71611517C>ACA49778978DYSFc.1526C>A (p.Ser509Tyr)
c.743C>A (p.Ser248Tyr)
c.701C>A (p.Ser234Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4112C>A (p.Ser1371Tyr)
c.4061C>A (p.Ser1354Tyr)
c.4109C>A (p.Ser1370Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4151C>A (p.Ser1384Tyr)
n.294C>A
n.442C>A
n.943C>A
n.277C>A
n.366-10C>A
c.4016C>A (p.Ser1339Tyr)
n.4312C>A
 dbSNP gnomAD v3 gnomAD v4
2g.71611517C=CA1260124142DYSFc.1526C= (p.Ser509=)
c.743C= (p.Ser248=)
c.701C= (p.Ser234=)
c.4058C= (p.Ser1353=)
c.4112C= (p.Ser1371=)
c.4061C= (p.Ser1354=)
c.4109C= (p.Ser1370=)
c.4154C= (p.Ser1385=)
c.4019C= (p.Ser1340=)
c.4151C= (p.Ser1384=)
n.294C=
n.442C=
n.943C=
n.277C=
n.366-10C=
c.4016C= (p.Ser1339=)
n.4312C=
2g.71611517C>GCA347228495DYSFc.1526C>G (p.Ser509Cys)
c.743C>G (p.Ser248Cys)
c.701C>G (p.Ser234Cys)
c.4058C>G (p.Ser1353Cys)
c.4112C>G (p.Ser1371Cys)
c.4061C>G (p.Ser1354Cys)
c.4109C>G (p.Ser1370Cys)
c.4154C>G (p.Ser1385Cys)
c.4019C>G (p.Ser1340Cys)
c.4151C>G (p.Ser1384Cys)
n.294C>G
n.442C>G
n.943C>G
n.277C>G
n.366-10C>G
c.4016C>G (p.Ser1339Cys)
n.4312C>G
2g.71611517C>TCA347228496DYSFc.1526C>T (p.Ser509Phe)
c.743C>T (p.Ser248Phe)
c.701C>T (p.Ser234Phe)
c.4058C>T (p.Ser1353Phe)
c.4112C>T (p.Ser1371Phe)
c.4061C>T (p.Ser1354Phe)
c.4109C>T (p.Ser1370Phe)
c.4154C>T (p.Ser1385Phe)
c.4019C>T (p.Ser1340Phe)
c.4151C>T (p.Ser1384Phe)
n.294C>T
n.442C>T
n.943C>T
n.277C>T
n.366-10C>T
c.4016C>T (p.Ser1339Phe)
n.4312C>T
 ClinVar
2g.71611518C>ACA426758886DYSFc.1527C>A (p.Ser509=)
c.744C>A (p.Ser248=)
c.702C>A (p.Ser234=)
c.4059C>A (p.Ser1353=)
c.4113C>A (p.Ser1371=)
c.4062C>A (p.Ser1354=)
c.4110C>A (p.Ser1370=)
c.4155C>A (p.Ser1385=)
c.4020C>A (p.Ser1340=)
c.4152C>A (p.Ser1384=)
n.295C>A
n.443C>A
n.944C>A
n.278C>A
n.366-9C>A
c.4017C>A (p.Ser1339=)
n.4313C>A
 ClinVar dbSNP
2g.71611518C>GCA426758887DYSFc.1527C>G (p.Ser509=)
c.744C>G (p.Ser248=)
c.702C>G (p.Ser234=)
c.4059C>G (p.Ser1353=)
c.4113C>G (p.Ser1371=)
c.4062C>G (p.Ser1354=)
c.4110C>G (p.Ser1370=)
c.4155C>G (p.Ser1385=)
c.4020C>G (p.Ser1340=)
c.4152C>G (p.Ser1384=)
n.295C>G
n.443C>G
n.944C>G
n.278C>G
n.366-9C>G
c.4017C>G (p.Ser1339=)
n.4313C>G
2g.71611518C>TCA426758889DYSFc.1527C>T (p.Ser509=)
c.744C>T (p.Ser248=)
c.702C>T (p.Ser234=)
c.4059C>T (p.Ser1353=)
c.4113C>T (p.Ser1371=)
c.4062C>T (p.Ser1354=)
c.4110C>T (p.Ser1370=)
c.4155C>T (p.Ser1385=)
c.4020C>T (p.Ser1340=)
c.4152C>T (p.Ser1384=)
n.295C>T
n.443C>T
n.944C>T
n.278C>T
n.366-9C>T
c.4017C>T (p.Ser1339=)
n.4313C>T
2g.71611518_71611519delinsCTCA1260124143DYSFc.1527_1528delinsCT (p.Ser509=)
c.744_745delinsCT (p.Ser248=)
c.702_703delinsCT (p.Ser234=)
c.4059_4060delinsCT (p.Ser1353=)
c.4113_4114delinsCT (p.Ser1371=)
c.4062_4063delinsCT (p.Ser1354=)
c.4110_4111delinsCT (p.Ser1370=)
c.4155_4156delinsCT (p.Ser1385=)
c.4020_4021delinsCT (p.Ser1340=)
c.4152_4153delinsCT (p.Ser1384=)
n.295_296delinsCT
n.443_444delinsCT
n.944_945delinsCT
n.278_279delinsCT
n.366-9_366-8delinsCT
c.4017_4018delinsCT (p.Ser1339=)
n.4313_4314delinsCT
2g.71611519delCA1139532920DYSFc.1528del (p.Ser510ProfsTer6)
c.745del (p.Ser249ProfsTer6)
c.703del (p.Ser235ProfsTer6)
c.4060del (p.Ser1354ProfsTer6)
c.4114del (p.Ser1372ProfsTer6)
c.4063del (p.Ser1355ProfsTer6)
c.4111del (p.Ser1371ProfsTer6)
c.4156del (p.Ser1386ProfsTer6)
c.4021del (p.Ser1341ProfsTer6)
c.4153del (p.Ser1385ProfsTer6)
n.296del
n.444del
n.945del
n.279del
n.366-8del
c.4018del (p.Ser1340ProfsTer6)
n.4314del
 ClinVar dbSNP
2g.71611519T>ACA347228498DYSFc.1528T>A (p.Ser510Thr)
c.745T>A (p.Ser249Thr)
c.703T>A (p.Ser235Thr)
c.4060T>A (p.Ser1354Thr)
c.4114T>A (p.Ser1372Thr)
c.4063T>A (p.Ser1355Thr)
c.4111T>A (p.Ser1371Thr)
c.4156T>A (p.Ser1386Thr)
c.4021T>A (p.Ser1341Thr)
c.4153T>A (p.Ser1385Thr)
n.296T>A
n.444T>A
n.945T>A
n.279T>A
n.366-8T>A
c.4018T>A (p.Ser1340Thr)
n.4314T>A
2g.71611519T>CCA347228499DYSFc.1528T>C (p.Ser510Pro)
c.745T>C (p.Ser249Pro)
c.703T>C (p.Ser235Pro)
c.4060T>C (p.Ser1354Pro)
c.4114T>C (p.Ser1372Pro)
c.4063T>C (p.Ser1355Pro)
c.4111T>C (p.Ser1371Pro)
c.4156T>C (p.Ser1386Pro)
c.4021T>C (p.Ser1341Pro)
c.4153T>C (p.Ser1385Pro)
n.296T>C
n.444T>C
n.945T>C
n.279T>C
n.366-8T>C
c.4018T>C (p.Ser1340Pro)
n.4314T>C
 dbSNP gnomAD v4
2g.71611519T>GCA347228497DYSFc.1528T>G (p.Ser510Ala)
c.745T>G (p.Ser249Ala)
c.703T>G (p.Ser235Ala)
c.4060T>G (p.Ser1354Ala)
c.4114T>G (p.Ser1372Ala)
c.4063T>G (p.Ser1355Ala)
c.4111T>G (p.Ser1371Ala)
c.4156T>G (p.Ser1386Ala)
c.4021T>G (p.Ser1341Ala)
c.4153T>G (p.Ser1385Ala)
n.296T>G
n.444T>G
n.945T>G
n.279T>G
n.366-8T>G
c.4018T>G (p.Ser1340Ala)
n.4314T>G
2g.71611519T=CA1260124144DYSFc.1528T= (p.Ser510=)
c.745T= (p.Ser249=)
c.703T= (p.Ser235=)
c.4060T= (p.Ser1354=)
c.4114T= (p.Ser1372=)
c.4063T= (p.Ser1355=)
c.4111T= (p.Ser1371=)
c.4156T= (p.Ser1386=)
c.4021T= (p.Ser1341=)
c.4153T= (p.Ser1385=)
n.296T=
n.444T=
n.945T=
n.279T=
n.366-8T=
c.4018T= (p.Ser1340=)
n.4314T=
2g.71611520C>ACA347228502DYSFc.1529C>A (p.Ser510Tyr)
c.746C>A (p.Ser249Tyr)
c.704C>A (p.Ser235Tyr)
c.4061C>A (p.Ser1354Tyr)
c.4115C>A (p.Ser1372Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4112C>A (p.Ser1371Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4022C>A (p.Ser1341Tyr)
c.4154C>A (p.Ser1385Tyr)
n.297C>A
n.445C>A
n.946C>A
n.280C>A
n.366-7C>A
c.4019C>A (p.Ser1340Tyr)
n.4315C>A
2g.71611520C>GCA347228500DYSFc.1529C>G (p.Ser510Cys)
c.746C>G (p.Ser249Cys)
c.704C>G (p.Ser235Cys)
c.4061C>G (p.Ser1354Cys)
c.4115C>G (p.Ser1372Cys)
c.4064C>G (p.Ser1355Cys)
c.4112C>G (p.Ser1371Cys)
c.4157C>G (p.Ser1386Cys)
c.4022C>G (p.Ser1341Cys)
c.4154C>G (p.Ser1385Cys)
n.297C>G
n.445C>G
n.946C>G
n.280C>G
n.366-7C>G
c.4019C>G (p.Ser1340Cys)
n.4315C>G
2g.71611520C>TCA347228501DYSFc.1529C>T (p.Ser510Phe)
c.746C>T (p.Ser249Phe)
c.704C>T (p.Ser235Phe)
c.4061C>T (p.Ser1354Phe)
c.4115C>T (p.Ser1372Phe)
c.4064C>T (p.Ser1355Phe)
c.4112C>T (p.Ser1371Phe)
c.4157C>T (p.Ser1386Phe)
c.4022C>T (p.Ser1341Phe)
c.4154C>T (p.Ser1385Phe)
n.297C>T
n.445C>T
n.946C>T
n.280C>T
n.366-7C>T
c.4019C>T (p.Ser1340Phe)
n.4315C>T
2g.71611521C>ACA426758890DYSFc.1530C>A (p.Ser510=)
c.747C>A (p.Ser249=)
c.705C>A (p.Ser235=)
c.4062C>A (p.Ser1354=)
c.4116C>A (p.Ser1372=)
c.4065C>A (p.Ser1355=)
c.4113C>A (p.Ser1371=)
c.4158C>A (p.Ser1386=)
c.4023C>A (p.Ser1341=)
c.4155C>A (p.Ser1385=)
n.298C>A
n.446C>A
n.947C>A
n.281C>A
n.366-6C>A
c.4020C>A (p.Ser1340=)
n.4316C>A
2g.71611521C=CA1260124145DYSFc.1530C= (p.Ser510=)
c.747C= (p.Ser249=)
c.705C= (p.Ser235=)
c.4062C= (p.Ser1354=)
c.4116C= (p.Ser1372=)
c.4065C= (p.Ser1355=)
c.4113C= (p.Ser1371=)
c.4158C= (p.Ser1386=)
c.4023C= (p.Ser1341=)
c.4155C= (p.Ser1385=)
n.298C=
n.446C=
n.947C=
n.281C=
n.366-6C=
c.4020C= (p.Ser1340=)
n.4316C=
2g.71611521C>GCA426758891DYSFc.1530C>G (p.Ser510=)
c.747C>G (p.Ser249=)
c.705C>G (p.Ser235=)
c.4062C>G (p.Ser1354=)
c.4116C>G (p.Ser1372=)
c.4065C>G (p.Ser1355=)
c.4113C>G (p.Ser1371=)
c.4158C>G (p.Ser1386=)
c.4023C>G (p.Ser1341=)
c.4155C>G (p.Ser1385=)
n.298C>G
n.446C>G
n.947C>G
n.281C>G
n.366-6C>G
c.4020C>G (p.Ser1340=)
n.4316C>G
2g.71611521C>TCA1706893DYSFc.1530C>T (p.Ser510=)
c.747C>T (p.Ser249=)
c.705C>T (p.Ser235=)
c.4062C>T (p.Ser1354=)
c.4116C>T (p.Ser1372=)
c.4065C>T (p.Ser1355=)
c.4113C>T (p.Ser1371=)
c.4158C>T (p.Ser1386=)
c.4023C>T (p.Ser1341=)
c.4155C>T (p.Ser1385=)
n.298C>T
n.446C>T
n.947C>T
n.281C>T
n.366-6C>T
c.4020C>T (p.Ser1340=)
n.4316C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611521_71611522insTCA2586969507DYSFc.1530_1531insT (p.Pro511SerfsTer27)
c.747_748insT (p.Pro250SerfsTer27)
c.705_706insT (p.Pro236SerfsTer27)
c.4062_4063insT (p.Pro1355SerfsTer27)
c.4116_4117insT (p.Pro1373SerfsTer27)
c.4065_4066insT (p.Pro1356SerfsTer27)
c.4113_4114insT (p.Pro1372SerfsTer27)
c.4158_4159insT (p.Pro1387SerfsTer27)
c.4023_4024insT (p.Pro1342SerfsTer27)
c.4155_4156insT (p.Pro1386SerfsTer27)
n.298_299insT
n.446_447insT
n.947_948insT
n.281_282insT
n.366-6_366-5insT
c.4020_4021insT (p.Pro1341SerfsTer27)
n.4316_4317insT
2g.71611522C>ACA1706894DYSFc.1531C>A (p.Pro511Thr)
c.748C>A (p.Pro250Thr)
c.706C>A (p.Pro236Thr)
c.4063C>A (p.Pro1355Thr)
c.4117C>A (p.Pro1373Thr)
c.4066C>A (p.Pro1356Thr)
c.4114C>A (p.Pro1372Thr)
c.4159C>A (p.Pro1387Thr)
c.4024C>A (p.Pro1342Thr)
c.4156C>A (p.Pro1386Thr)
n.299C>A
n.447C>A
n.948C>A
n.282C>A
n.366-5C>A
c.4021C>A (p.Pro1341Thr)
n.4317C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611522C=CA1260124146DYSFc.1531C= (p.Pro511=)
c.748C= (p.Pro250=)
c.706C= (p.Pro236=)
c.4063C= (p.Pro1355=)
c.4117C= (p.Pro1373=)
c.4066C= (p.Pro1356=)
c.4114C= (p.Pro1372=)
c.4159C= (p.Pro1387=)
c.4024C= (p.Pro1342=)
c.4156C= (p.Pro1386=)
n.299C=
n.447C=
n.948C=
n.282C=
n.366-5C=
c.4021C= (p.Pro1341=)
n.4317C=
2g.71611522C>GCA347228503DYSFc.1531C>G (p.Pro511Ala)
c.748C>G (p.Pro250Ala)
c.706C>G (p.Pro236Ala)
c.4063C>G (p.Pro1355Ala)
c.4117C>G (p.Pro1373Ala)
c.4066C>G (p.Pro1356Ala)
c.4114C>G (p.Pro1372Ala)
c.4159C>G (p.Pro1387Ala)
c.4024C>G (p.Pro1342Ala)
c.4156C>G (p.Pro1386Ala)
n.299C>G
n.447C>G
n.948C>G
n.282C>G
n.366-5C>G
c.4021C>G (p.Pro1341Ala)
n.4317C>G
2g.71611522C>TCA347228504DYSFc.1531C>T (p.Pro511Ser)
c.748C>T (p.Pro250Ser)
c.706C>T (p.Pro236Ser)
c.4063C>T (p.Pro1355Ser)
c.4117C>T (p.Pro1373Ser)
c.4066C>T (p.Pro1356Ser)
c.4114C>T (p.Pro1372Ser)
c.4159C>T (p.Pro1387Ser)
c.4024C>T (p.Pro1342Ser)
c.4156C>T (p.Pro1386Ser)
n.299C>T
n.447C>T
n.948C>T
n.282C>T
n.366-5C>T
c.4021C>T (p.Pro1341Ser)
n.4317C>T
 gnomAD v4
2g.71611522_71611523insTCA2586969508DYSFc.1531_1532insT (p.Pro511LeufsTer27)
c.748_749insT (p.Pro250LeufsTer27)
c.706_707insT (p.Pro236LeufsTer27)
c.4063_4064insT (p.Pro1355LeufsTer27)
c.4117_4118insT (p.Pro1373LeufsTer27)
c.4066_4067insT (p.Pro1356LeufsTer27)
c.4114_4115insT (p.Pro1372LeufsTer27)
c.4159_4160insT (p.Pro1387LeufsTer27)
c.4024_4025insT (p.Pro1342LeufsTer27)
c.4156_4157insT (p.Pro1386LeufsTer27)
n.299_300insT
n.447_448insT
n.948_949insT
n.282_283insT
n.366-5_366-4insT
c.4021_4022insT (p.Pro1341LeufsTer27)
n.4317_4318insT
2g.71611523C>ACA347228505DYSFc.1532C>A (p.Pro511His)
c.749C>A (p.Pro250His)
c.707C>A (p.Pro236His)
c.4064C>A (p.Pro1355His)
c.4118C>A (p.Pro1373His)
c.4067C>A (p.Pro1356His)
c.4115C>A (p.Pro1372His)
c.4160C>A (p.Pro1387His)
c.4025C>A (p.Pro1342His)
c.4157C>A (p.Pro1386His)
n.300C>A
n.448C>A
n.949C>A
n.283C>A
n.366-4C>A
c.4022C>A (p.Pro1341His)
n.4318C>A
 dbSNP gnomAD v4
2g.71611523C=CA1260124147DYSFc.1532C= (p.Pro511=)
c.749C= (p.Pro250=)
c.707C= (p.Pro236=)
c.4064C= (p.Pro1355=)
c.4118C= (p.Pro1373=)
c.4067C= (p.Pro1356=)
c.4115C= (p.Pro1372=)
c.4160C= (p.Pro1387=)
c.4025C= (p.Pro1342=)
c.4157C= (p.Pro1386=)
n.300C=
n.448C=
n.949C=
n.283C=
n.366-4C=
c.4022C= (p.Pro1341=)
n.4318C=
2g.71611523C>GCA347228506DYSFc.1532C>G (p.Pro511Arg)
c.749C>G (p.Pro250Arg)
c.707C>G (p.Pro236Arg)
c.4064C>G (p.Pro1355Arg)
c.4118C>G (p.Pro1373Arg)
c.4067C>G (p.Pro1356Arg)
c.4115C>G (p.Pro1372Arg)
c.4160C>G (p.Pro1387Arg)
c.4025C>G (p.Pro1342Arg)
c.4157C>G (p.Pro1386Arg)
n.300C>G
n.448C>G
n.949C>G
n.283C>G
n.366-4C>G
c.4022C>G (p.Pro1341Arg)
n.4318C>G
2g.71611523C>TCA347228507DYSFc.1532C>T (p.Pro511Leu)
c.749C>T (p.Pro250Leu)
c.707C>T (p.Pro236Leu)
c.4064C>T (p.Pro1355Leu)
c.4118C>T (p.Pro1373Leu)
c.4067C>T (p.Pro1356Leu)
c.4115C>T (p.Pro1372Leu)
c.4160C>T (p.Pro1387Leu)
c.4025C>T (p.Pro1342Leu)
c.4157C>T (p.Pro1386Leu)
n.300C>T
n.448C>T
n.949C>T
n.283C>T
n.366-4C>T
c.4022C>T (p.Pro1341Leu)
n.4318C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71611524C>ACA1706895DYSFc.1533C>A (p.Pro511=)
c.750C>A (p.Pro250=)
c.708C>A (p.Pro236=)
c.4065C>A (p.Pro1355=)
c.4119C>A (p.Pro1373=)
c.4068C>A (p.Pro1356=)
c.4116C>A (p.Pro1372=)
c.4161C>A (p.Pro1387=)
c.4026C>A (p.Pro1342=)
c.4158C>A (p.Pro1386=)
n.301C>A
n.449C>A
n.950C>A
n.284C>A
n.366-3C>A
c.4023C>A (p.Pro1341=)
n.4319C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611524C=CA1260124148DYSFc.1533C= (p.Pro511=)
c.750C= (p.Pro250=)
c.708C= (p.Pro236=)
c.4065C= (p.Pro1355=)
c.4119C= (p.Pro1373=)
c.4068C= (p.Pro1356=)
c.4116C= (p.Pro1372=)
c.4161C= (p.Pro1387=)
c.4026C= (p.Pro1342=)
c.4158C= (p.Pro1386=)
n.301C=
n.449C=
n.950C=
n.284C=
n.366-3C=
c.4023C= (p.Pro1341=)
n.4319C=
2g.71611524C>GCA426758592DYSFc.1533C>G (p.Pro511=)
c.750C>G (p.Pro250=)
c.708C>G (p.Pro236=)
c.4065C>G (p.Pro1355=)
c.4119C>G (p.Pro1373=)
c.4068C>G (p.Pro1356=)
c.4116C>G (p.Pro1372=)
c.4161C>G (p.Pro1387=)
c.4026C>G (p.Pro1342=)
c.4158C>G (p.Pro1386=)
n.301C>G
n.449C>G
n.950C>G
n.284C>G
n.366-3C>G
c.4023C>G (p.Pro1341=)
n.4319C>G
2g.71611524C>TCA426758593DYSFc.1533C>T (p.Pro511=)
c.750C>T (p.Pro250=)
c.708C>T (p.Pro236=)
c.4065C>T (p.Pro1355=)
c.4119C>T (p.Pro1373=)
c.4068C>T (p.Pro1356=)
c.4116C>T (p.Pro1372=)
c.4161C>T (p.Pro1387=)
c.4026C>T (p.Pro1342=)
c.4158C>T (p.Pro1386=)
n.301C>T
n.449C>T
n.950C>T
n.284C>T
n.366-3C>T
c.4023C>T (p.Pro1341=)
n.4319C>T
 dbSNP gnomAD v4
2g.71611525A=CA1260124149DYSFc.1534A= (p.Ser512=)
c.751A= (p.Ser251=)
c.709A= (p.Ser237=)
c.4066A= (p.Ser1356=)
c.4120A= (p.Ser1374=)
c.4069A= (p.Ser1357=)
c.4117A= (p.Ser1373=)
c.4162A= (p.Ser1388=)
c.4027A= (p.Ser1343=)
c.4159A= (p.Ser1387=)
n.302A=
n.450A=
n.951A=
n.285A=
n.366-2A=
c.4024A= (p.Ser1342=)
n.4320A=
2g.71611525A>CCA347228508DYSFc.1534A>C (p.Ser512Arg)
c.751A>C (p.Ser251Arg)
c.709A>C (p.Ser237Arg)
c.4066A>C (p.Ser1356Arg)
c.4120A>C (p.Ser1374Arg)
c.4069A>C (p.Ser1357Arg)
c.4117A>C (p.Ser1373Arg)
c.4162A>C (p.Ser1388Arg)
c.4027A>C (p.Ser1343Arg)
c.4159A>C (p.Ser1387Arg)
n.302A>C
n.450A>C
n.951A>C
n.285A>C
n.366-2A>C
c.4024A>C (p.Ser1342Arg)
n.4320A>C
2g.71611525A>GCA347228509DYSFc.1534A>G (p.Ser512Gly)
c.751A>G (p.Ser251Gly)
c.709A>G (p.Ser237Gly)
c.4066A>G (p.Ser1356Gly)
c.4120A>G (p.Ser1374Gly)
c.4069A>G (p.Ser1357Gly)
c.4117A>G (p.Ser1373Gly)
c.4162A>G (p.Ser1388Gly)
c.4027A>G (p.Ser1343Gly)
c.4159A>G (p.Ser1387Gly)
n.302A>G
n.450A>G
n.951A>G
n.285A>G
n.366-2A>G
c.4024A>G (p.Ser1342Gly)
n.4320A>G
 dbSNP gnomAD v4
2g.71611525A>TCA347228510DYSFc.1534A>T (p.Ser512Cys)
c.751A>T (p.Ser251Cys)
c.709A>T (p.Ser237Cys)
c.4066A>T (p.Ser1356Cys)
c.4120A>T (p.Ser1374Cys)
c.4069A>T (p.Ser1357Cys)
c.4117A>T (p.Ser1373Cys)
c.4162A>T (p.Ser1388Cys)
c.4027A>T (p.Ser1343Cys)
c.4159A>T (p.Ser1387Cys)
n.302A>T
n.450A>T
n.951A>T
n.285A>T
n.366-2A>T
c.4024A>T (p.Ser1342Cys)
n.4320A>T
2g.71611526G>ACA347228511DYSFc.1535G>A (p.Ser512Asn)
c.752G>A (p.Ser251Asn)
c.710G>A (p.Ser237Asn)
c.4067G>A (p.Ser1356Asn)
c.4121G>A (p.Ser1374Asn)
c.4070G>A (p.Ser1357Asn)
c.4118G>A (p.Ser1373Asn)
c.4163G>A (p.Ser1388Asn)
c.4028G>A (p.Ser1343Asn)
c.4160G>A (p.Ser1387Asn)
n.303G>A
n.451G>A
n.952G>A
n.286G>A
n.366-1G>A
c.4025G>A (p.Ser1342Asn)
n.4321G>A
2g.71611526G>CCA347228513DYSFc.1535G>C (p.Ser512Thr)
c.752G>C (p.Ser251Thr)
c.710G>C (p.Ser237Thr)
c.4067G>C (p.Ser1356Thr)
c.4121G>C (p.Ser1374Thr)
c.4070G>C (p.Ser1357Thr)
c.4118G>C (p.Ser1373Thr)
c.4163G>C (p.Ser1388Thr)
c.4028G>C (p.Ser1343Thr)
c.4160G>C (p.Ser1387Thr)
n.303G>C
n.451G>C
n.952G>C
n.286G>C
n.366-1G>C
c.4025G>C (p.Ser1342Thr)
n.4321G>C
2g.71611526G>TCA347228512DYSFc.1535G>T (p.Ser512Ile)
c.752G>T (p.Ser251Ile)
c.710G>T (p.Ser237Ile)
c.4067G>T (p.Ser1356Ile)
c.4121G>T (p.Ser1374Ile)
c.4070G>T (p.Ser1357Ile)
c.4118G>T (p.Ser1373Ile)
c.4163G>T (p.Ser1388Ile)
c.4028G>T (p.Ser1343Ile)
c.4160G>T (p.Ser1387Ile)
n.303G>T
n.451G>T
n.952G>T
n.286G>T
n.366-1G>T
c.4025G>T (p.Ser1342Ile)
n.4321G>T
2g.71611527C>ACA347228514DYSFc.1536C>A (p.Ser512Arg)
c.753C>A (p.Ser251Arg)
c.711C>A (p.Ser237Arg)
c.4068C>A (p.Ser1356Arg)
c.4122C>A (p.Ser1374Arg)
c.4071C>A (p.Ser1357Arg)
c.4119C>A (p.Ser1373Arg)
c.4164C>A (p.Ser1388Arg)
c.4029C>A (p.Ser1343Arg)
c.4161C>A (p.Ser1387Arg)
n.304C>A
n.452C>A
n.953C>A
n.287C>A
n.366C>A
c.4026C>A (p.Ser1342Arg)
n.4322C>A
 dbSNP
2g.71611527C=CA1260124150DYSFc.1536C= (p.Ser512=)
c.753C= (p.Ser251=)
c.711C= (p.Ser237=)
c.4068C= (p.Ser1356=)
c.4122C= (p.Ser1374=)
c.4071C= (p.Ser1357=)
c.4119C= (p.Ser1373=)
c.4164C= (p.Ser1388=)
c.4029C= (p.Ser1343=)
c.4161C= (p.Ser1387=)
n.304C=
n.452C=
n.953C=
n.287C=
n.366C=
c.4026C= (p.Ser1342=)
n.4322C=
2g.71611527C>GCA347228515DYSFc.1536C>G (p.Ser512Arg)
c.753C>G (p.Ser251Arg)
c.711C>G (p.Ser237Arg)
c.4068C>G (p.Ser1356Arg)
c.4122C>G (p.Ser1374Arg)
c.4071C>G (p.Ser1357Arg)
c.4119C>G (p.Ser1373Arg)
c.4164C>G (p.Ser1388Arg)
c.4029C>G (p.Ser1343Arg)
c.4161C>G (p.Ser1387Arg)
n.304C>G
n.452C>G
n.953C>G
n.287C>G
n.366C>G
c.4026C>G (p.Ser1342Arg)
n.4322C>G
2g.71611527C>TCA147757DYSFc.1536C>T (p.Ser512=)
c.753C>T (p.Ser251=)
c.711C>T (p.Ser237=)
c.4068C>T (p.Ser1356=)
c.4122C>T (p.Ser1374=)
c.4071C>T (p.Ser1357=)
c.4119C>T (p.Ser1373=)
c.4164C>T (p.Ser1388=)
c.4029C>T (p.Ser1343=)
c.4161C>T (p.Ser1387=)
n.304C>T
n.452C>T
n.953C>T
n.287C>T
n.366C>T
c.4026C>T (p.Ser1342=)
n.4322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611528C>ACA347228516DYSFc.1537C>A (p.Leu513Ile)
c.754C>A (p.Leu252Ile)
c.712C>A (p.Leu238Ile)
c.4069C>A (p.Leu1357Ile)
c.4123C>A (p.Leu1375Ile)
c.4072C>A (p.Leu1358Ile)
c.4120C>A (p.Leu1374Ile)
c.4165C>A (p.Leu1389Ile)
c.4030C>A (p.Leu1344Ile)
c.4162C>A (p.Leu1388Ile)
n.305C>A
n.453C>A
n.954C>A
n.288C>A
n.367C>A
c.4027C>A (p.Leu1343Ile)
n.4323C>A
2g.71611528C=CA1260124151DYSFc.1537C= (p.Leu513=)
c.754C= (p.Leu252=)
c.712C= (p.Leu238=)
c.4069C= (p.Leu1357=)
c.4123C= (p.Leu1375=)
c.4072C= (p.Leu1358=)
c.4120C= (p.Leu1374=)
c.4165C= (p.Leu1389=)
c.4030C= (p.Leu1344=)
c.4162C= (p.Leu1388=)
n.305C=
n.453C=
n.954C=
n.288C=
n.367C=
c.4027C= (p.Leu1343=)
n.4323C=
2g.71611528C>GCA347228517DYSFc.1537C>G (p.Leu513Val)
c.754C>G (p.Leu252Val)
c.712C>G (p.Leu238Val)
c.4069C>G (p.Leu1357Val)
c.4123C>G (p.Leu1375Val)
c.4072C>G (p.Leu1358Val)
c.4120C>G (p.Leu1374Val)
c.4165C>G (p.Leu1389Val)
c.4030C>G (p.Leu1344Val)
c.4162C>G (p.Leu1388Val)
n.305C>G
n.453C>G
n.954C>G
n.288C>G
n.367C>G
c.4027C>G (p.Leu1343Val)
n.4323C>G
2g.71611528C>TCA1706896DYSFc.1537C>T (p.Leu513Phe)
c.754C>T (p.Leu252Phe)
c.712C>T (p.Leu238Phe)
c.4069C>T (p.Leu1357Phe)
c.4123C>T (p.Leu1375Phe)
c.4072C>T (p.Leu1358Phe)
c.4120C>T (p.Leu1374Phe)
c.4165C>T (p.Leu1389Phe)
c.4030C>T (p.Leu1344Phe)
c.4162C>T (p.Leu1388Phe)
n.305C>T
n.453C>T
n.954C>T
n.288C>T
n.367C>T
c.4027C>T (p.Leu1343Phe)
n.4323C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611529T>ACA347228518DYSFc.1538T>A (p.Leu513His)
c.755T>A (p.Leu252His)
c.713T>A (p.Leu238His)
c.4070T>A (p.Leu1357His)
c.4124T>A (p.Leu1375His)
c.4073T>A (p.Leu1358His)
c.4121T>A (p.Leu1374His)
c.4166T>A (p.Leu1389His)
c.4031T>A (p.Leu1344His)
c.4163T>A (p.Leu1388His)
n.306T>A
n.454T>A
n.955T>A
n.289T>A
n.368T>A
c.4028T>A (p.Leu1343His)
n.4324T>A
2g.71611529T>CCA347228519DYSFc.1538T>C (p.Leu513Pro)
c.755T>C (p.Leu252Pro)
c.713T>C (p.Leu238Pro)
c.4070T>C (p.Leu1357Pro)
c.4124T>C (p.Leu1375Pro)
c.4073T>C (p.Leu1358Pro)
c.4121T>C (p.Leu1374Pro)
c.4166T>C (p.Leu1389Pro)
c.4031T>C (p.Leu1344Pro)
c.4163T>C (p.Leu1388Pro)
n.306T>C
n.454T>C
n.955T>C
n.289T>C
n.368T>C
c.4028T>C (p.Leu1343Pro)
n.4324T>C
2g.71611529T>GCA347228520DYSFc.1538T>G (p.Leu513Arg)
c.755T>G (p.Leu252Arg)
c.713T>G (p.Leu238Arg)
c.4070T>G (p.Leu1357Arg)
c.4124T>G (p.Leu1375Arg)
c.4073T>G (p.Leu1358Arg)
c.4121T>G (p.Leu1374Arg)
c.4166T>G (p.Leu1389Arg)
c.4031T>G (p.Leu1344Arg)
c.4163T>G (p.Leu1388Arg)
n.306T>G
n.454T>G
n.955T>G
n.289T>G
n.368T>G
c.4028T>G (p.Leu1343Arg)
n.4324T>G
2g.71611530C>ACA426758603DYSFc.1539C>A (p.Leu513=)
c.756C>A (p.Leu252=)
c.714C>A (p.Leu238=)
c.4071C>A (p.Leu1357=)
c.4125C>A (p.Leu1375=)
c.4074C>A (p.Leu1358=)
c.4122C>A (p.Leu1374=)
c.4167C>A (p.Leu1389=)
c.4032C>A (p.Leu1344=)
c.4164C>A (p.Leu1388=)
n.307C>A
n.455C>A
n.956C>A
n.290C>A
n.369C>A
c.4029C>A (p.Leu1343=)
n.4325C>A
2g.71611530C=CA1260124152DYSFc.1539C= (p.Leu513=)
c.756C= (p.Leu252=)
c.714C= (p.Leu238=)
c.4071C= (p.Leu1357=)
c.4125C= (p.Leu1375=)
c.4074C= (p.Leu1358=)
c.4122C= (p.Leu1374=)
c.4167C= (p.Leu1389=)
c.4032C= (p.Leu1344=)
c.4164C= (p.Leu1388=)
n.307C=
n.455C=
n.956C=
n.290C=
n.369C=
c.4029C= (p.Leu1343=)
n.4325C=
2g.71611530C>GCA426758604DYSFc.1539C>G (p.Leu513=)
c.756C>G (p.Leu252=)
c.714C>G (p.Leu238=)
c.4071C>G (p.Leu1357=)
c.4125C>G (p.Leu1375=)
c.4074C>G (p.Leu1358=)
c.4122C>G (p.Leu1374=)
c.4167C>G (p.Leu1389=)
c.4032C>G (p.Leu1344=)
c.4164C>G (p.Leu1388=)
n.307C>G
n.455C>G
n.956C>G
n.290C>G
n.369C>G
c.4029C>G (p.Leu1343=)
n.4325C>G
 gnomAD v3 gnomAD v4
2g.71611530C>TCA1706897DYSFc.1539C>T (p.Leu513=)
c.756C>T (p.Leu252=)
c.714C>T (p.Leu238=)
c.4071C>T (p.Leu1357=)
c.4125C>T (p.Leu1375=)
c.4074C>T (p.Leu1358=)
c.4122C>T (p.Leu1374=)
c.4167C>T (p.Leu1389=)
c.4032C>T (p.Leu1344=)
c.4164C>T (p.Leu1388=)
n.307C>T
n.455C>T
n.956C>T
n.290C>T
n.369C>T
c.4029C>T (p.Leu1343=)
n.4325C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611531G>ACA1706898DYSFc.1540G>A (p.Val514Met)
c.757G>A (p.Val253Met)
c.715G>A (p.Val239Met)
c.4072G>A (p.Val1358Met)
c.4126G>A (p.Val1376Met)
c.4075G>A (p.Val1359Met)
c.4123G>A (p.Val1375Met)
c.4168G>A (p.Val1390Met)
c.4033G>A (p.Val1345Met)
c.4165G>A (p.Val1389Met)
n.308G>A
n.456G>A
n.957G>A
n.291G>A
n.370G>A
c.4030G>A (p.Val1344Met)
n.4326G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71611531G>CCA347228522DYSFc.1540G>C (p.Val514Leu)
c.757G>C (p.Val253Leu)
c.715G>C (p.Val239Leu)
c.4072G>C (p.Val1358Leu)
c.4126G>C (p.Val1376Leu)
c.4075G>C (p.Val1359Leu)
c.4123G>C (p.Val1375Leu)
c.4168G>C (p.Val1390Leu)
c.4033G>C (p.Val1345Leu)
c.4165G>C (p.Val1389Leu)
n.308G>C
n.456G>C
n.957G>C
n.291G>C
n.370G>C
c.4030G>C (p.Val1344Leu)
n.4326G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71611531G=CA1260124153DYSFc.1540G= (p.Val514=)
c.757G= (p.Val253=)
c.715G= (p.Val239=)
c.4072G= (p.Val1358=)
c.4126G= (p.Val1376=)
c.4075G= (p.Val1359=)
c.4123G= (p.Val1375=)
c.4168G= (p.Val1390=)
c.4033G= (p.Val1345=)
c.4165G= (p.Val1389=)
n.308G=
n.456G=
n.957G=
n.291G=
n.370G=
c.4030G= (p.Val1344=)
n.4326G=
2g.71611531G>TCA347228521DYSFc.1540G>T (p.Val514Leu)
c.757G>T (p.Val253Leu)
c.715G>T (p.Val239Leu)
c.4072G>T (p.Val1358Leu)
c.4126G>T (p.Val1376Leu)
c.4075G>T (p.Val1359Leu)
c.4123G>T (p.Val1375Leu)
c.4168G>T (p.Val1390Leu)
c.4033G>T (p.Val1345Leu)
c.4165G>T (p.Val1389Leu)
n.308G>T
n.456G>T
n.957G>T
n.291G>T
n.370G>T
c.4030G>T (p.Val1344Leu)
n.4326G>T
2g.71611532T>ACA347228523DYSFc.1541T>A (p.Val514Glu)
c.758T>A (p.Val253Glu)
c.716T>A (p.Val239Glu)
c.4073T>A (p.Val1358Glu)
c.4127T>A (p.Val1376Glu)
c.4076T>A (p.Val1359Glu)
c.4124T>A (p.Val1375Glu)
c.4169T>A (p.Val1390Glu)
c.4034T>A (p.Val1345Glu)
c.4166T>A (p.Val1389Glu)
n.309T>A
n.457T>A
n.958T>A
n.292T>A
n.371T>A
c.4031T>A (p.Val1344Glu)
n.4327T>A
 ClinVar dbSNP gnomAD v4
2g.71611532T>CCA347228524DYSFc.1541T>C (p.Val514Ala)
c.758T>C (p.Val253Ala)
c.716T>C (p.Val239Ala)
c.4073T>C (p.Val1358Ala)
c.4127T>C (p.Val1376Ala)
c.4076T>C (p.Val1359Ala)
c.4124T>C (p.Val1375Ala)
c.4169T>C (p.Val1390Ala)
c.4034T>C (p.Val1345Ala)
c.4166T>C (p.Val1389Ala)
n.309T>C
n.457T>C
n.958T>C
n.292T>C
n.371T>C
c.4031T>C (p.Val1344Ala)
n.4327T>C
2g.71611532T>GCA347228525DYSFc.1541T>G (p.Val514Gly)
c.758T>G (p.Val253Gly)
c.716T>G (p.Val239Gly)
c.4073T>G (p.Val1358Gly)
c.4127T>G (p.Val1376Gly)
c.4076T>G (p.Val1359Gly)
c.4124T>G (p.Val1375Gly)
c.4169T>G (p.Val1390Gly)
c.4034T>G (p.Val1345Gly)
c.4166T>G (p.Val1389Gly)
n.309T>G
n.457T>G
n.958T>G
n.292T>G
n.371T>G
c.4031T>G (p.Val1344Gly)
n.4327T>G
2g.71611532T=CA1260124154DYSFc.1541T= (p.Val514=)
c.758T= (p.Val253=)
c.716T= (p.Val239=)
c.4073T= (p.Val1358=)
c.4127T= (p.Val1376=)
c.4076T= (p.Val1359=)
c.4124T= (p.Val1375=)
c.4169T= (p.Val1390=)
c.4034T= (p.Val1345=)
c.4166T= (p.Val1389=)
n.309T=
n.457T=
n.958T=
n.292T=
n.371T=
c.4031T= (p.Val1344=)
n.4327T=
2g.71611533G>ACA426758608DYSFc.1542G>A (p.Val514=)
c.759G>A (p.Val253=)
c.717G>A (p.Val239=)
c.4074G>A (p.Val1358=)
c.4128G>A (p.Val1376=)
c.4077G>A (p.Val1359=)
c.4125G>A (p.Val1375=)
c.4170G>A (p.Val1390=)
c.4035G>A (p.Val1345=)
c.4167G>A (p.Val1389=)
n.310G>A
n.458G>A
n.959G>A
n.293G>A
n.372G>A
c.4032G>A (p.Val1344=)
n.4328G>A
2g.71611533G>CCA426758609DYSFc.1542G>C (p.Val514=)
c.759G>C (p.Val253=)
c.717G>C (p.Val239=)
c.4074G>C (p.Val1358=)
c.4128G>C (p.Val1376=)
c.4077G>C (p.Val1359=)
c.4125G>C (p.Val1375=)
c.4170G>C (p.Val1390=)
c.4035G>C (p.Val1345=)
c.4167G>C (p.Val1389=)
n.310G>C
n.458G>C
n.959G>C
n.293G>C
n.372G>C
c.4032G>C (p.Val1344=)
n.4328G>C
2g.71611533G>TCA426758606DYSFc.1542G>T (p.Val514=)
c.759G>T (p.Val253=)
c.717G>T (p.Val239=)
c.4074G>T (p.Val1358=)
c.4128G>T (p.Val1376=)
c.4077G>T (p.Val1359=)
c.4125G>T (p.Val1375=)
c.4170G>T (p.Val1390=)
c.4035G>T (p.Val1345=)
c.4167G>T (p.Val1389=)
n.310G>T
n.458G>T
n.959G>T
n.293G>T
n.372G>T
c.4032G>T (p.Val1344=)
n.4328G>T
2g.71611534G>ACA1706899DYSFc.1543G>A (p.Val515Ile)
c.760G>A (p.Val254Ile)
c.718G>A (p.Val240Ile)
c.4075G>A (p.Val1359Ile)
c.4129G>A (p.Val1377Ile)
c.4078G>A (p.Val1360Ile)
c.4126G>A (p.Val1376Ile)
c.4171G>A (p.Val1391Ile)
c.4036G>A (p.Val1346Ile)
c.4168G>A (p.Val1390Ile)
n.311G>A
n.459G>A
n.960G>A
n.294G>A
n.373G>A
c.4033G>A (p.Val1345Ile)
n.4329G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71611534G>CCA347228526DYSFc.1543G>C (p.Val515Leu)
c.760G>C (p.Val254Leu)
c.718G>C (p.Val240Leu)
c.4075G>C (p.Val1359Leu)
c.4129G>C (p.Val1377Leu)
c.4078G>C (p.Val1360Leu)
c.4126G>C (p.Val1376Leu)
c.4171G>C (p.Val1391Leu)
c.4036G>C (p.Val1346Leu)
c.4168G>C (p.Val1390Leu)
n.311G>C
n.459G>C
n.960G>C
n.294G>C
n.373G>C
c.4033G>C (p.Val1345Leu)
n.4329G>C
2g.71611534G=CA1260124155DYSFc.1543G= (p.Val515=)
c.760G= (p.Val254=)
c.718G= (p.Val240=)
c.4075G= (p.Val1359=)
c.4129G= (p.Val1377=)
c.4078G= (p.Val1360=)
c.4126G= (p.Val1376=)
c.4171G= (p.Val1391=)
c.4036G= (p.Val1346=)
c.4168G= (p.Val1390=)
n.311G=
n.459G=
n.960G=
n.294G=
n.373G=
c.4033G= (p.Val1345=)
n.4329G=
2g.71611534G>TCA347228527DYSFc.1543G>T (p.Val515Leu)
c.760G>T (p.Val254Leu)
c.718G>T (p.Val240Leu)
c.4075G>T (p.Val1359Leu)
c.4129G>T (p.Val1377Leu)
c.4078G>T (p.Val1360Leu)
c.4126G>T (p.Val1376Leu)
c.4171G>T (p.Val1391Leu)
c.4036G>T (p.Val1346Leu)
c.4168G>T (p.Val1390Leu)
n.311G>T
n.459G>T
n.960G>T
n.294G>T
n.373G>T
c.4033G>T (p.Val1345Leu)
n.4329G>T
 dbSNP gnomAD v4
2g.71611535T>ACA347228528DYSFc.1544T>A (p.Val515Glu)
c.761T>A (p.Val254Glu)
c.719T>A (p.Val240Glu)
c.4076T>A (p.Val1359Glu)
c.4130T>A (p.Val1377Glu)
c.4079T>A (p.Val1360Glu)
c.4127T>A (p.Val1376Glu)
c.4172T>A (p.Val1391Glu)
c.4037T>A (p.Val1346Glu)
c.4169T>A (p.Val1390Glu)
n.312T>A
n.460T>A
n.961T>A
n.295T>A
n.374T>A
c.4034T>A (p.Val1345Glu)
n.4330T>A
2g.71611535T>CCA347228529DYSFc.1544T>C (p.Val515Ala)
c.761T>C (p.Val254Ala)
c.719T>C (p.Val240Ala)
c.4076T>C (p.Val1359Ala)
c.4130T>C (p.Val1377Ala)
c.4079T>C (p.Val1360Ala)
c.4127T>C (p.Val1376Ala)
c.4172T>C (p.Val1391Ala)
c.4037T>C (p.Val1346Ala)
c.4169T>C (p.Val1390Ala)
n.312T>C
n.460T>C
n.961T>C
n.295T>C
n.374T>C
c.4034T>C (p.Val1345Ala)
n.4330T>C
2g.71611535T>GCA347228530DYSFc.1544T>G (p.Val515Gly)
c.761T>G (p.Val254Gly)
c.719T>G (p.Val240Gly)
c.4076T>G (p.Val1359Gly)
c.4130T>G (p.Val1377Gly)
c.4079T>G (p.Val1360Gly)
c.4127T>G (p.Val1376Gly)
c.4172T>G (p.Val1391Gly)
c.4037T>G (p.Val1346Gly)
c.4169T>G (p.Val1390Gly)
n.312T>G
n.460T>G
n.961T>G
n.295T>G
n.374T>G
c.4034T>G (p.Val1345Gly)
n.4330T>G
2g.71611536A>CCA426758615DYSFc.1545A>C (p.Val515=)
c.762A>C (p.Val254=)
c.720A>C (p.Val240=)
c.4077A>C (p.Val1359=)
c.4131A>C (p.Val1377=)
c.4080A>C (p.Val1360=)
c.4128A>C (p.Val1376=)
c.4173A>C (p.Val1391=)
c.4038A>C (p.Val1346=)
c.4170A>C (p.Val1390=)
n.313A>C
n.461A>C
n.962A>C
n.296A>C
n.375A>C
c.4035A>C (p.Val1345=)
n.4331A>C
2g.71611536A>GCA426758614DYSFc.1545A>G (p.Val515=)
c.762A>G (p.Val254=)
c.720A>G (p.Val240=)
c.4077A>G (p.Val1359=)
c.4131A>G (p.Val1377=)
c.4080A>G (p.Val1360=)
c.4128A>G (p.Val1376=)
c.4173A>G (p.Val1391=)
c.4038A>G (p.Val1346=)
c.4170A>G (p.Val1390=)
n.313A>G
n.461A>G
n.962A>G
n.296A>G
n.375A>G
c.4035A>G (p.Val1345=)
n.4331A>G
2g.71611536A>TCA426758613DYSFc.1545A>T (p.Val515=)
c.762A>T (p.Val254=)
c.720A>T (p.Val240=)
c.4077A>T (p.Val1359=)
c.4131A>T (p.Val1377=)
c.4080A>T (p.Val1360=)
c.4128A>T (p.Val1376=)
c.4173A>T (p.Val1391=)
c.4038A>T (p.Val1346=)
c.4170A>T (p.Val1390=)
n.313A>T
n.461A>T
n.962A>T
n.296A>T
n.375A>T
c.4035A>T (p.Val1345=)
n.4331A>T
2g.71611537G>ACA347228531DYSFc.1546G>A (p.Glu516Lys)
c.763G>A (p.Glu255Lys)
c.721G>A (p.Glu241Lys)
c.4078G>A (p.Glu1360Lys)
c.4132G>A (p.Glu1378Lys)
c.4081G>A (p.Glu1361Lys)
c.4129G>A (p.Glu1377Lys)
c.4174G>A (p.Glu1392Lys)
c.4039G>A (p.Glu1347Lys)
c.4171G>A (p.Glu1391Lys)
n.314G>A
n.462G>A
n.963G>A
n.297G>A
n.376G>A
c.4036G>A (p.Glu1346Lys)
n.4332G>A
 gnomAD v4
2g.71611537G>CCA347228532DYSFc.1546G>C (p.Glu516Gln)
c.763G>C (p.Glu255Gln)
c.721G>C (p.Glu241Gln)
c.4078G>C (p.Glu1360Gln)
c.4132G>C (p.Glu1378Gln)
c.4081G>C (p.Glu1361Gln)
c.4129G>C (p.Glu1377Gln)
c.4174G>C (p.Glu1392Gln)
c.4039G>C (p.Glu1347Gln)
c.4171G>C (p.Glu1391Gln)
n.314G>C
n.462G>C
n.963G>C
n.297G>C
n.376G>C
c.4036G>C (p.Glu1346Gln)
n.4332G>C
2g.71611537G>TCA347228533DYSFc.1546G>T (p.Glu516Ter)
c.763G>T (p.Glu255Ter)
c.721G>T (p.Glu241Ter)
c.4078G>T (p.Glu1360Ter)
c.4132G>T (p.Glu1378Ter)
c.4081G>T (p.Glu1361Ter)
c.4129G>T (p.Glu1377Ter)
c.4174G>T (p.Glu1392Ter)
c.4039G>T (p.Glu1347Ter)
c.4171G>T (p.Glu1391Ter)
n.314G>T
n.462G>T
n.963G>T
n.297G>T
n.376G>T
c.4036G>T (p.Glu1346Ter)
n.4332G>T
2g.71611538A>CCA347228535DYSFc.1547A>C (p.Glu516Ala)
c.764A>C (p.Glu255Ala)
c.722A>C (p.Glu241Ala)
c.4079A>C (p.Glu1360Ala)
c.4133A>C (p.Glu1378Ala)
c.4082A>C (p.Glu1361Ala)
c.4130A>C (p.Glu1377Ala)
c.4175A>C (p.Glu1392Ala)
c.4040A>C (p.Glu1347Ala)
c.4172A>C (p.Glu1391Ala)
n.315A>C
n.463A>C
n.964A>C
n.298A>C
n.377A>C
c.4037A>C (p.Glu1346Ala)
n.4333A>C
 gnomAD v4
2g.71611538A>GCA347228536DYSFc.1547A>G (p.Glu516Gly)
c.764A>G (p.Glu255Gly)
c.722A>G (p.Glu241Gly)
c.4079A>G (p.Glu1360Gly)
c.4133A>G (p.Glu1378Gly)
c.4082A>G (p.Glu1361Gly)
c.4130A>G (p.Glu1377Gly)
c.4175A>G (p.Glu1392Gly)
c.4040A>G (p.Glu1347Gly)
c.4172A>G (p.Glu1391Gly)
n.315A>G
n.463A>G
n.964A>G
n.298A>G
n.377A>G
c.4037A>G (p.Glu1346Gly)
n.4333A>G
2g.71611538A>TCA347228534DYSFc.1547A>T (p.Glu516Val)
c.764A>T (p.Glu255Val)
c.722A>T (p.Glu241Val)
c.4079A>T (p.Glu1360Val)
c.4133A>T (p.Glu1378Val)
c.4082A>T (p.Glu1361Val)
c.4130A>T (p.Glu1377Val)
c.4175A>T (p.Glu1392Val)
c.4040A>T (p.Glu1347Val)
c.4172A>T (p.Glu1391Val)
n.315A>T
n.463A>T
n.964A>T
n.298A>T
n.377A>T
c.4037A>T (p.Glu1346Val)
n.4333A>T
2g.71611539G>ACA426758640DYSFc.1548G>A (p.Glu516=)
c.765G>A (p.Glu255=)
c.723G>A (p.Glu241=)
c.4080G>A (p.Glu1360=)
c.4134G>A (p.Glu1378=)
c.4083G>A (p.Glu1361=)
c.4131G>A (p.Glu1377=)
c.4176G>A (p.Glu1392=)
c.4041G>A (p.Glu1347=)
c.4173G>A (p.Glu1391=)
n.316G>A
n.464G>A
n.965G>A
n.299G>A
n.378G>A
c.4038G>A (p.Glu1346=)
n.4334G>A
 gnomAD v4
2g.71611539G>CCA347228537DYSFc.1548G>C (p.Glu516Asp)
c.765G>C (p.Glu255Asp)
c.723G>C (p.Glu241Asp)
c.4080G>C (p.Glu1360Asp)
c.4134G>C (p.Glu1378Asp)
c.4083G>C (p.Glu1361Asp)
c.4131G>C (p.Glu1377Asp)
c.4176G>C (p.Glu1392Asp)
c.4041G>C (p.Glu1347Asp)
c.4173G>C (p.Glu1391Asp)
n.316G>C
n.464G>C
n.965G>C
n.299G>C
n.378G>C
c.4038G>C (p.Glu1346Asp)
n.4334G>C
2g.71611539G>TCA347228538DYSFc.1548G>T (p.Glu516Asp)
c.765G>T (p.Glu255Asp)
c.723G>T (p.Glu241Asp)
c.4080G>T (p.Glu1360Asp)
c.4134G>T (p.Glu1378Asp)
c.4083G>T (p.Glu1361Asp)
c.4131G>T (p.Glu1377Asp)
c.4176G>T (p.Glu1392Asp)
c.4041G>T (p.Glu1347Asp)
c.4173G>T (p.Glu1391Asp)
n.316G>T
n.464G>T
n.965G>T
n.299G>T
n.378G>T
c.4038G>T (p.Glu1346Asp)
n.4334G>T
2g.71611540T>ACA347228539DYSFc.1549T>A (p.Cys517Ser)
c.766T>A (p.Cys256Ser)
c.724T>A (p.Cys242Ser)
c.4081T>A (p.Cys1361Ser)
c.4135T>A (p.Cys1379Ser)
c.4084T>A (p.Cys1362Ser)
c.4132T>A (p.Cys1378Ser)
c.4177T>A (p.Cys1393Ser)
c.4042T>A (p.Cys1348Ser)
c.4174T>A (p.Cys1392Ser)
n.317T>A
n.465T>A
n.966T>A
n.300T>A
n.379T>A
c.4039T>A (p.Cys1347Ser)
n.4335T>A
2g.71611540T>CCA1706900DYSFc.1549T>C (p.Cys517Arg)
c.766T>C (p.Cys256Arg)
c.724T>C (p.Cys242Arg)
c.4081T>C (p.Cys1361Arg)
c.4135T>C (p.Cys1379Arg)
c.4084T>C (p.Cys1362Arg)
c.4132T>C (p.Cys1378Arg)
c.4177T>C (p.Cys1393Arg)
c.4042T>C (p.Cys1348Arg)
c.4174T>C (p.Cys1392Arg)
n.317T>C
n.465T>C
n.966T>C
n.300T>C
n.379T>C
c.4039T>C (p.Cys1347Arg)
n.4335T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611540T>GCA347228540DYSFc.1549T>G (p.Cys517Gly)
c.766T>G (p.Cys256Gly)
c.724T>G (p.Cys242Gly)
c.4081T>G (p.Cys1361Gly)
c.4135T>G (p.Cys1379Gly)
c.4084T>G (p.Cys1362Gly)
c.4132T>G (p.Cys1378Gly)
c.4177T>G (p.Cys1393Gly)
c.4042T>G (p.Cys1348Gly)
c.4174T>G (p.Cys1392Gly)
n.317T>G
n.465T>G
n.966T>G
n.300T>G
n.379T>G
c.4039T>G (p.Cys1347Gly)
n.4335T>G
 gnomAD v4
2g.71611540T=CA1260124156DYSFc.1549T= (p.Cys517=)
c.766T= (p.Cys256=)
c.724T= (p.Cys242=)
c.4081T= (p.Cys1361=)
c.4135T= (p.Cys1379=)
c.4084T= (p.Cys1362=)
c.4132T= (p.Cys1378=)
c.4177T= (p.Cys1393=)
c.4042T= (p.Cys1348=)
c.4174T= (p.Cys1392=)
n.317T=
n.465T=
n.966T=
n.300T=
n.379T=
c.4039T= (p.Cys1347=)
n.4335T=
2g.71611541G>ACA347228543DYSFc.1550G>A (p.Cys517Tyr)
c.767G>A (p.Cys256Tyr)
c.725G>A (p.Cys242Tyr)
c.4082G>A (p.Cys1361Tyr)
c.4136G>A (p.Cys1379Tyr)
c.4085G>A (p.Cys1362Tyr)
c.4133G>A (p.Cys1378Tyr)
c.4178G>A (p.Cys1393Tyr)
c.4043G>A (p.Cys1348Tyr)
c.4175G>A (p.Cys1392Tyr)
n.318G>A
n.466G>A
n.967G>A
n.301G>A
n.380G>A
c.4040G>A (p.Cys1347Tyr)
n.4336G>A
 gnomAD v4
2g.71611541G>CCA347228541DYSFc.1550G>C (p.Cys517Ser)
c.767G>C (p.Cys256Ser)
c.725G>C (p.Cys242Ser)
c.4082G>C (p.Cys1361Ser)
c.4136G>C (p.Cys1379Ser)
c.4085G>C (p.Cys1362Ser)
c.4133G>C (p.Cys1378Ser)
c.4178G>C (p.Cys1393Ser)
c.4043G>C (p.Cys1348Ser)
c.4175G>C (p.Cys1392Ser)
n.318G>C
n.466G>C
n.967G>C
n.301G>C
n.380G>C
c.4040G>C (p.Cys1347Ser)
n.4336G>C
2g.71611541G>TCA347228542DYSFc.1550G>T (p.Cys517Phe)
c.767G>T (p.Cys256Phe)
c.725G>T (p.Cys242Phe)
c.4082G>T (p.Cys1361Phe)
c.4136G>T (p.Cys1379Phe)
c.4085G>T (p.Cys1362Phe)
c.4133G>T (p.Cys1378Phe)
c.4178G>T (p.Cys1393Phe)
c.4043G>T (p.Cys1348Phe)
c.4175G>T (p.Cys1392Phe)
n.318G>T
n.466G>T
n.967G>T
n.301G>T
n.380G>T
c.4040G>T (p.Cys1347Phe)
n.4336G>T
2g.71611542delCA658820650DYSFc.1551del (p.Cys517TrpfsTer29)
c.768del (p.Cys256TrpfsTer29)
c.726del (p.Cys242TrpfsTer29)
c.4083del (p.Cys1361TrpfsTer29)
c.4137del (p.Cys1379TrpfsTer29)
c.4086del (p.Cys1362TrpfsTer29)
c.4134del (p.Cys1378TrpfsTer29)
c.4179del (p.Cys1393TrpfsTer29)
c.4044del (p.Cys1348TrpfsTer29)
c.4176del (p.Cys1392TrpfsTer29)
n.319del
n.467del
n.968del
n.302del
n.381del
c.4041del (p.Cys1347TrpfsTer29)
n.4337del
2g.71611542T>ACA347228544DYSFc.1551T>A (p.Cys517Ter)
c.768T>A (p.Cys256Ter)
c.726T>A (p.Cys242Ter)
c.4083T>A (p.Cys1361Ter)
c.4137T>A (p.Cys1379Ter)
c.4086T>A (p.Cys1362Ter)
c.4134T>A (p.Cys1378Ter)
c.4179T>A (p.Cys1393Ter)
c.4044T>A (p.Cys1348Ter)
c.4176T>A (p.Cys1392Ter)
n.319T>A
n.467T>A
n.968T>A
n.302T>A
n.381T>A
c.4041T>A (p.Cys1347Ter)
n.4337T>A
2g.71611542T>CCA426758647DYSFc.1551T>C (p.Cys517=)
c.768T>C (p.Cys256=)
c.726T>C (p.Cys242=)
c.4083T>C (p.Cys1361=)
c.4137T>C (p.Cys1379=)
c.4086T>C (p.Cys1362=)
c.4134T>C (p.Cys1378=)
c.4179T>C (p.Cys1393=)
c.4044T>C (p.Cys1348=)
c.4176T>C (p.Cys1392=)
n.319T>C
n.467T>C
n.968T>C
n.302T>C
n.381T>C
c.4041T>C (p.Cys1347=)
n.4337T>C
 gnomAD v4
2g.71611542T>GCA1706901DYSFc.1551T>G (p.Cys517Trp)
c.768T>G (p.Cys256Trp)
c.726T>G (p.Cys242Trp)
c.4083T>G (p.Cys1361Trp)
c.4137T>G (p.Cys1379Trp)
c.4086T>G (p.Cys1362Trp)
c.4134T>G (p.Cys1378Trp)
c.4179T>G (p.Cys1393Trp)
c.4044T>G (p.Cys1348Trp)
c.4176T>G (p.Cys1392Trp)
n.319T>G
n.467T>G
n.968T>G
n.302T>G
n.381T>G
c.4041T>G (p.Cys1347Trp)
n.4337T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71611542T=CA1260124157DYSFc.1551T= (p.Cys517=)
c.768T= (p.Cys256=)
c.726T= (p.Cys242=)
c.4083T= (p.Cys1361=)
c.4137T= (p.Cys1379=)
c.4086T= (p.Cys1362=)
c.4134T= (p.Cys1378=)
c.4179T= (p.Cys1393=)
c.4044T= (p.Cys1348=)
c.4176T= (p.Cys1392=)
n.319T=
n.467T=
n.968T=
n.302T=
n.381T=
c.4041T= (p.Cys1347=)
n.4337T=
2g.71611542dupCA2750416525DYSFc.1551dup (p.Gly518TrpfsTer20)
c.768dup (p.Gly257TrpfsTer20)
c.726dup (p.Gly243TrpfsTer20)
c.4083dup (p.Gly1362TrpfsTer20)
c.4137dup (p.Gly1380TrpfsTer20)
c.4086dup (p.Gly1363TrpfsTer20)
c.4134dup (p.Gly1379TrpfsTer20)
c.4179dup (p.Gly1394TrpfsTer20)
c.4044dup (p.Gly1349TrpfsTer20)
c.4176dup (p.Gly1393TrpfsTer20)
n.319dup
n.467dup
n.968dup
n.302dup
n.381dup
c.4041dup (p.Gly1348TrpfsTer20)
n.4337dup
2g.71611543G>ACA347228545DYSFc.1552G>A (p.Gly518Arg)
c.769G>A (p.Gly257Arg)
c.727G>A (p.Gly243Arg)
c.4084G>A (p.Gly1362Arg)
c.4138G>A (p.Gly1380Arg)
c.4087G>A (p.Gly1363Arg)
c.4135G>A (p.Gly1379Arg)
c.4180G>A (p.Gly1394Arg)
c.4045G>A (p.Gly1349Arg)
c.4177G>A (p.Gly1393Arg)
n.320G>A
n.468G>A
n.969G>A
n.303G>A
n.382G>A
c.4042G>A (p.Gly1348Arg)
n.4338G>A
 gnomAD v4
2g.71611543G>CCA347228546DYSFc.1552G>C (p.Gly518Arg)
c.769G>C (p.Gly257Arg)
c.727G>C (p.Gly243Arg)
c.4084G>C (p.Gly1362Arg)
c.4138G>C (p.Gly1380Arg)
c.4087G>C (p.Gly1363Arg)
c.4135G>C (p.Gly1379Arg)
c.4180G>C (p.Gly1394Arg)
c.4045G>C (p.Gly1349Arg)
c.4177G>C (p.Gly1393Arg)
n.320G>C
n.468G>C
n.969G>C
n.303G>C
n.382G>C
c.4042G>C (p.Gly1348Arg)
n.4338G>C
 dbSNP gnomAD v2
2g.71611543G=CA1260124158DYSFc.1552G= (p.Gly518=)
c.769G= (p.Gly257=)
c.727G= (p.Gly243=)
c.4084G= (p.Gly1362=)
c.4138G= (p.Gly1380=)
c.4087G= (p.Gly1363=)
c.4135G= (p.Gly1379=)
c.4180G= (p.Gly1394=)
c.4045G= (p.Gly1349=)
c.4177G= (p.Gly1393=)
n.320G=
n.468G=
n.969G=
n.303G=
n.382G=
c.4042G= (p.Gly1348=)
n.4338G=
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

Number of alleles fetched