Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317506C>ACA441366499FAT4c.1095C>A (p.Ala365=)
c.-55+1529C>A (n.-55+1529C>A)
 ClinVar dbSNP gnomAD v4
4g.125317506C>GCA441366501FAT4c.1095C>G (p.Ala365=)
c.-55+1529C>G (n.-55+1529C>G)
4g.125317506C>TCA441366502FAT4c.1095C>T (p.Ala365=)
c.-55+1529C>T (n.-55+1529C>T)
4g.125317507T>ACA358117190FAT4c.1096T>A (p.Ser366Thr)
c.-55+1530T>A (n.-55+1530T>A)
4g.125317507T>CCA358117188FAT4c.1096T>C (p.Ser366Pro)
c.-55+1530T>C (n.-55+1530T>C)
4g.125317507T>GCA358117189FAT4c.1096T>G (p.Ser366Ala)
c.-55+1530T>G (n.-55+1530T>G)
4g.125317508C>ACA358117191FAT4c.1097C>A (p.Ser366Ter)
c.-55+1531C>A (n.-55+1531C>A)
4g.125317508C>GCA358117192FAT4c.1097C>G (p.Ser366Trp)
c.-55+1531C>G (n.-55+1531C>G)
 gnomAD v4
4g.125317508C>TCA358117193FAT4c.1097C>T (p.Ser366Leu)
c.-55+1531C>T (n.-55+1531C>T)
 gnomAD v4
4g.125317509G>ACA3071915FAT4c.1098G>A (p.Ser366=)
c.-55+1532G>A (n.-55+1532G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317509G>CCA441366508FAT4c.1098G>C (p.Ser366=)
c.-55+1532G>C (n.-55+1532G>C)
 gnomAD v4
4g.125317509G=CA1491600000FAT4c.1098G= (p.Ser366=)
c.-55+1532G= (n.-55+1532G=)
4g.125317509G>TCA441366509FAT4c.1098G>T (p.Ser366=)
c.-55+1532G>T (n.-55+1532G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317509_125317514dupCA2672009308FAT4c.1098_1103dup (p.Val367_Asp368insGluVal)
c.-55+1532_-55+1537dup (n.-55+1532_-55+1537dup)
 gnomAD v4
4g.125317510G>ACA3071916FAT4c.1099G>A (p.Val367Ile)
c.-55+1533G>A (n.-55+1533G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317510G>CCA358117194FAT4c.1099G>C (p.Val367Leu)
c.-55+1533G>C (n.-55+1533G>C)
 gnomAD v4
4g.125317510G=CA1491600011FAT4c.1099G= (p.Val367=)
c.-55+1533G= (n.-55+1533G=)
4g.125317510G>TCA358117195FAT4c.1099G>T (p.Val367Leu)
c.-55+1533G>T (n.-55+1533G>T)
4g.125317511T>ACA358117196FAT4c.1100T>A (p.Val367Glu)
c.-55+1534T>A (n.-55+1534T>A)
4g.125317511T>CCA358117198FAT4c.1100T>C (p.Val367Ala)
c.-55+1534T>C (n.-55+1534T>C)
4g.125317511T>GCA358117197FAT4c.1100T>G (p.Val367Gly)
c.-55+1534T>G (n.-55+1534T>G)
4g.125317512A=CA1491600024FAT4c.1101A= (p.Val367=)
c.-55+1535A= (n.-55+1535A=)
4g.125317512A>CCA441366516FAT4c.1101A>C (p.Val367=)
c.-55+1535A>C (n.-55+1535A>C)
4g.125317512A>GCA3071917FAT4c.1101A>G (p.Val367=)
c.-55+1535A>G (n.-55+1535A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317512A>TCA441366519FAT4c.1101A>T (p.Val367=)
c.-55+1535A>T (n.-55+1535A>T)
4g.125317513G>ACA358117199FAT4c.1102G>A (p.Asp368Asn)
c.-55+1536G>A (n.-55+1536G>A)
4g.125317513G>CCA358117200FAT4c.1102G>C (p.Asp368His)
c.-55+1536G>C (n.-55+1536G>C)
4g.125317513G>TCA358117201FAT4c.1102G>T (p.Asp368Tyr)
c.-55+1536G>T (n.-55+1536G>T)
4g.125317514A=CA1491600028FAT4c.1103A= (p.Asp368=)
c.-55+1537A= (n.-55+1537A=)
4g.125317514A>CCA358117202FAT4c.1103A>C (p.Asp368Ala)
c.-55+1537A>C (n.-55+1537A>C)
 dbSNP
4g.125317514A>GCA358117204FAT4c.1103A>G (p.Asp368Gly)
c.-55+1537A>G (n.-55+1537A>G)
 gnomAD v4
4g.125317514A>TCA358117203FAT4c.1103A>T (p.Asp368Val)
c.-55+1537A>T (n.-55+1537A>T)
4g.125317515T>ACA358117205FAT4c.1104T>A (p.Asp368Glu)
c.-55+1538T>A (n.-55+1538T>A)
4g.125317515T>CCA3071918FAT4c.1104T>C (p.Asp368=)
c.-55+1538T>C (n.-55+1538T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317515T>GCA358117206FAT4c.1104T>G (p.Asp368Glu)
c.-55+1538T>G (n.-55+1538T>G)
 gnomAD v4
4g.125317515T=CA1491600036FAT4c.1104T= (p.Asp368=)
c.-55+1538T= (n.-55+1538T=)
4g.125317516G>ACA358117207FAT4c.1105G>A (p.Glu369Lys)
c.-55+1539G>A (n.-55+1539G>A)
4g.125317516G>CCA358117208FAT4c.1105G>C (p.Glu369Gln)
c.-55+1539G>C (n.-55+1539G>C)
4g.125317516G>TCA358117209FAT4c.1105G>T (p.Glu369Ter)
c.-55+1539G>T (n.-55+1539G>T)
4g.125317517A>CCA358117210FAT4c.1106A>C (p.Glu369Ala)
c.-55+1540A>C (n.-55+1540A>C)
4g.125317517A>GCA358117211FAT4c.1106A>G (p.Glu369Gly)
c.-55+1540A>G (n.-55+1540A>G)
4g.125317517A>TCA358117212FAT4c.1106A>T (p.Glu369Val)
c.-55+1540A>T (n.-55+1540A>T)
4g.125317518G>ACA441366528FAT4c.1107G>A (p.Glu369=)
c.-55+1541G>A (n.-55+1541G>A)
 ClinVar dbSNP
4g.125317518G>CCA358117213FAT4c.1107G>C (p.Glu369Asp)
c.-55+1541G>C (n.-55+1541G>C)
4g.125317518G=CA1491600045FAT4c.1107G= (p.Glu369=)
c.-55+1541G= (n.-55+1541G=)
4g.125317518G>TCA358117214FAT4c.1107G>T (p.Glu369Asp)
c.-55+1541G>T (n.-55+1541G>T)
4g.125317519A>CCA358117215FAT4c.1108A>C (p.Asn370His)
c.-55+1542A>C (n.-55+1542A>C)
4g.125317519A>GCA358117217FAT4c.1108A>G (p.Asn370Asp)
c.-55+1542A>G (n.-55+1542A>G)
4g.125317519A>TCA358117216FAT4c.1108A>T (p.Asn370Tyr)
c.-55+1542A>T (n.-55+1542A>T)
4g.125317520A>CCA358117218FAT4c.1109A>C (p.Asn370Thr)
c.-55+1543A>C (n.-55+1543A>C)
4g.125317520A>GCA358117219FAT4c.1109A>G (p.Asn370Ser)
c.-55+1543A>G (n.-55+1543A>G)
4g.125317520A>TCA358117220FAT4c.1109A>T (p.Asn370Ile)
c.-55+1543A>T (n.-55+1543A>T)
4g.125317521T>ACA358117221FAT4c.1110T>A (p.Asn370Lys)
c.-55+1544T>A (n.-55+1544T>A)
4g.125317521T>CCA441366533FAT4c.1110T>C (p.Asn370=)
c.-55+1544T>C (n.-55+1544T>C)
4g.125317521T>GCA358117222FAT4c.1110T>G (p.Asn370Lys)
c.-55+1544T>G (n.-55+1544T>G)
4g.125317522G>ACA358117225FAT4c.1111G>A (p.Ala371Thr)
c.-55+1545G>A (n.-55+1545G>A)
 dbSNP
4g.125317522G>CCA358117224FAT4c.1111G>C (p.Ala371Pro)
c.-55+1545G>C (n.-55+1545G>C)
4g.125317522G=CA1491600052FAT4c.1111G= (p.Ala371=)
c.-55+1545G= (n.-55+1545G=)
4g.125317522G>TCA358117223FAT4c.1111G>T (p.Ala371Ser)
c.-55+1545G>T (n.-55+1545G>T)
4g.125317523C>ACA358117226FAT4c.1112C>A (p.Ala371Asp)
c.-55+1546C>A (n.-55+1546C>A)
4g.125317523C>GCA358117227FAT4c.1112C>G (p.Ala371Gly)
c.-55+1546C>G (n.-55+1546C>G)
4g.125317523C>TCA358117228FAT4c.1112C>T (p.Ala371Val)
c.-55+1546C>T (n.-55+1546C>T)
4g.125317524T>ACA441366540FAT4c.1113T>A (p.Ala371=)
c.-55+1547T>A (n.-55+1547T>A)
4g.125317524T>CCA441366542FAT4c.1113T>C (p.Ala371=)
c.-55+1547T>C (n.-55+1547T>C)
4g.125317524T>GCA441366541FAT4c.1113T>G (p.Ala371=)
c.-55+1547T>G (n.-55+1547T>G)
4g.125317525C>ACA358117229FAT4c.1114C>A (p.Gln372Lys)
c.-55+1548C>A (n.-55+1548C>A)
4g.125317525C>GCA358117230FAT4c.1114C>G (p.Gln372Glu)
c.-55+1548C>G (n.-55+1548C>G)
 gnomAD v4
4g.125317525C>TCA358117231FAT4c.1114C>T (p.Gln372Ter)
c.-55+1548C>T (n.-55+1548C>T)
4g.125317526A=CA1491600057FAT4c.1115A= (p.Gln372=)
c.-55+1549A= (n.-55+1549A=)
4g.125317526A>CCA358117234FAT4c.1115A>C (p.Gln372Pro)
c.-55+1549A>C (n.-55+1549A>C)
4g.125317526A>GCA358117232FAT4c.1115A>G (p.Gln372Arg)
c.-55+1549A>G (n.-55+1549A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317526A>TCA358117233FAT4c.1115A>T (p.Gln372Leu)
c.-55+1549A>T (n.-55+1549A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317527A>CCA358117235FAT4c.1116A>C (p.Gln372His)
c.-55+1550A>C (n.-55+1550A>C)
4g.125317527A>GCA441366550FAT4c.1116A>G (p.Gln372=)
c.-55+1550A>G (n.-55+1550A>G)
 ClinVar gnomAD v4
4g.125317527A>TCA358117236FAT4c.1116A>T (p.Gln372His)
c.-55+1550A>T (n.-55+1550A>T)
4g.125317528G>ACA358117237FAT4c.1117G>A (p.Val373Met)
c.-55+1551G>A (n.-55+1551G>A)
4g.125317528G>CCA358117238FAT4c.1117G>C (p.Val373Leu)
c.-55+1551G>C (n.-55+1551G>C)
4g.125317528G>TCA358117239FAT4c.1117G>T (p.Val373Leu)
c.-55+1551G>T (n.-55+1551G>T)
4g.125317529T>ACA358117240FAT4c.1118T>A (p.Val373Glu)
c.-55+1552T>A (n.-55+1552T>A)
4g.125317529T>CCA358117241FAT4c.1118T>C (p.Val373Ala)
c.-55+1552T>C (n.-55+1552T>C)
4g.125317529T>GCA358117242FAT4c.1118T>G (p.Val373Gly)
c.-55+1552T>G (n.-55+1552T>G)
4g.125317530G>ACA441366554FAT4c.1119G>A (p.Val373=)
c.-55+1553G>A (n.-55+1553G>A)
4g.125317530G>CCA441366555FAT4c.1119G>C (p.Val373=)
c.-55+1553G>C (n.-55+1553G>C)
4g.125317530G=CA1491600064FAT4c.1119G= (p.Val373=)
c.-55+1553G= (n.-55+1553G=)
4g.125317530G>TCA3071919FAT4c.1119G>T (p.Val373=)
c.-55+1553G>T (n.-55+1553G>T)
 dbSNP ExAC gnomAD v2
4g.125317531G>ACA358117243FAT4c.1120G>A (p.Gly374Ser)
c.-55+1554G>A (n.-55+1554G>A)
 gnomAD v4
4g.125317531G>CCA358117244FAT4c.1120G>C (p.Gly374Arg)
c.-55+1554G>C (n.-55+1554G>C)
4g.125317531G>TCA358117245FAT4c.1120G>T (p.Gly374Cys)
c.-55+1554G>T (n.-55+1554G>T)
4g.125317532G>ACA358117246FAT4c.1121G>A (p.Gly374Asp)
c.-55+1555G>A (n.-55+1555G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317532G>CCA358117248FAT4c.1121G>C (p.Gly374Ala)
c.-55+1555G>C (n.-55+1555G>C)
4g.125317532G=CA1491600070FAT4c.1121G= (p.Gly374=)
c.-55+1555G= (n.-55+1555G=)
4g.125317532G>TCA358117247FAT4c.1121G>T (p.Gly374Val)
c.-55+1555G>T (n.-55+1555G>T)
4g.125317533C>ACA441366562FAT4c.1122C>A (p.Gly374=)
c.-55+1556C>A (n.-55+1556C>A)
4g.125317533C=CA1491600073FAT4c.1122C= (p.Gly374=)
c.-55+1556C= (n.-55+1556C=)
4g.125317533C>GCA441366564FAT4c.1122C>G (p.Gly374=)
c.-55+1556C>G (n.-55+1556C>G)
4g.125317533C>TCA3071920FAT4c.1122C>T (p.Gly374=)
c.-55+1556C>T (n.-55+1556C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317534A=CA1491600081FAT4c.1123A= (p.Thr375=)
c.-55+1557A= (n.-55+1557A=)
4g.125317534A>CCA358117249FAT4c.1123A>C (p.Thr375Pro)
c.-55+1557A>C (n.-55+1557A>C)
4g.125317534A>GCA358117250FAT4c.1123A>G (p.Thr375Ala)
c.-55+1557A>G (n.-55+1557A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317534A>TCA358117251FAT4c.1123A>T (p.Thr375Ser)
c.-55+1557A>T (n.-55+1557A>T)
4g.125317535C>ACA358117252FAT4c.1124C>A (p.Thr375Asn)
c.-55+1558C>A (n.-55+1558C>A)
4g.125317535C=CA1491600086FAT4c.1124C= (p.Thr375=)
c.-55+1558C= (n.-55+1558C=)
4g.125317535C>GCA358117253FAT4c.1124C>G (p.Thr375Ser)
c.-55+1558C>G (n.-55+1558C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317535C>TCA358117254FAT4c.1124C>T (p.Thr375Ile)
c.-55+1558C>T (n.-55+1558C>T)
4g.125317536C>ACA441366572FAT4c.1125C>A (p.Thr375=)
c.-55+1559C>A (n.-55+1559C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317536C=CA1491600091FAT4c.1125C= (p.Thr375=)
c.-55+1559C= (n.-55+1559C=)
4g.125317536C>GCA441366573FAT4c.1125C>G (p.Thr375=)
c.-55+1559C>G (n.-55+1559C>G)
4g.125317536C>TCA104861845FAT4c.1125C>T (p.Thr375=)
c.-55+1559C>T (n.-55+1559C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317537G>ACA3071921FAT4c.1126G>A (p.Val376Met)
c.-55+1560G>A (n.-55+1560G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317537G>CCA358117255FAT4c.1126G>C (p.Val376Leu)
c.-55+1560G>C (n.-55+1560G>C)
 dbSNP gnomAD v4
4g.125317537G=CA1491600097FAT4c.1126G= (p.Val376=)
c.-55+1560G= (n.-55+1560G=)
4g.125317537G>TCA358117256FAT4c.1126G>T (p.Val376Leu)
c.-55+1560G>T (n.-55+1560G>T)
4g.125317538T>ACA358117257FAT4c.1127T>A (p.Val376Glu)
c.-55+1561T>A (n.-55+1561T>A)
4g.125317538T>CCA358117258FAT4c.1127T>C (p.Val376Ala)
c.-55+1561T>C (n.-55+1561T>C)
4g.125317538T>GCA358117259FAT4c.1127T>G (p.Val376Gly)
c.-55+1561T>G (n.-55+1561T>G)
4g.125317539G>ACA3071922FAT4c.1128G>A (p.Val376=)
c.-55+1562G>A (n.-55+1562G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317539G>CCA441366578FAT4c.1128G>C (p.Val376=)
c.-55+1562G>C (n.-55+1562G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125317539G=CA1491600100FAT4c.1128G= (p.Val376=)
c.-55+1562G= (n.-55+1562G=)
4g.125317539G>TCA441366576FAT4c.1128G>T (p.Val376=)
c.-55+1562G>T (n.-55+1562G>T)
4g.125317540G>ACA358117260FAT4c.1129G>A (p.Val377Met)
c.-55+1563G>A (n.-55+1563G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317540G>CCA358117261FAT4c.1129G>C (p.Val377Leu)
c.-55+1563G>C (n.-55+1563G>C)
4g.125317540G=CA1491600108FAT4c.1129G= (p.Val377=)
c.-55+1563G= (n.-55+1563G=)
4g.125317540G>TCA358117262FAT4c.1129G>T (p.Val377Leu)
c.-55+1563G>T (n.-55+1563G>T)
4g.125317541T>ACA358117263FAT4c.1130T>A (p.Val377Glu)
c.-55+1564T>A (n.-55+1564T>A)
4g.125317541T>CCA358117264FAT4c.1130T>C (p.Val377Ala)
c.-55+1564T>C (n.-55+1564T>C)
4g.125317541T>GCA358117265FAT4c.1130T>G (p.Val377Gly)
c.-55+1564T>G (n.-55+1564T>G)
 gnomAD v4
4g.125317542G>ACA441366582FAT4c.1131G>A (p.Val377=)
c.-55+1565G>A (n.-55+1565G>A)
4g.125317542G>CCA441366584FAT4c.1131G>C (p.Val377=)
c.-55+1565G>C (n.-55+1565G>C)
 dbSNP
4g.125317542G=CA1491600112FAT4c.1131G= (p.Val377=)
c.-55+1565G= (n.-55+1565G=)
4g.125317542G>TCA441366583FAT4c.1131G>T (p.Val377=)
c.-55+1565G>T (n.-55+1565G>T)
4g.125317543G>ACA358117266FAT4c.1132G>A (p.Ala378Thr)
c.-55+1566G>A (n.-55+1566G>A)
4g.125317543G>CCA358117267FAT4c.1132G>C (p.Ala378Pro)
c.-55+1566G>C (n.-55+1566G>C)
4g.125317543G>TCA358117268FAT4c.1132G>T (p.Ala378Ser)
c.-55+1566G>T (n.-55+1566G>T)
4g.125317544C>ACA358117269FAT4c.1133C>A (p.Ala378Asp)
c.-55+1567C>A (n.-55+1567C>A)
4g.125317544C>GCA358117270FAT4c.1133C>G (p.Ala378Gly)
c.-55+1567C>G (n.-55+1567C>G)
4g.125317544C>TCA358117271FAT4c.1133C>T (p.Ala378Val)
c.-55+1567C>T (n.-55+1567C>T)
4g.125317545T>ACA441366590FAT4c.1134T>A (p.Ala378=)
c.-55+1568T>A (n.-55+1568T>A)
4g.125317545T>CCA441366592FAT4c.1134T>C (p.Ala378=)
c.-55+1568T>C (n.-55+1568T>C)
4g.125317545T>GCA441366593FAT4c.1134T>G (p.Ala378=)
c.-55+1568T>G (n.-55+1568T>G)
4g.125317546C>ACA358117273FAT4c.1135C>A (p.Leu379Met)
c.-55+1569C>A (n.-55+1569C>A)
 gnomAD v4
4g.125317546C>GCA358117272FAT4c.1135C>G (p.Leu379Val)
c.-55+1569C>G (n.-55+1569C>G)
4g.125317546C>TCA441366595FAT4c.1135C>T (p.Leu379=)
c.-55+1569C>T (n.-55+1569C>T)
4g.125317547T>ACA358117274FAT4c.1136T>A (p.Leu379Gln)
c.-55+1570T>A (n.-55+1570T>A)
4g.125317547T>CCA358117276FAT4c.1136T>C (p.Leu379Pro)
c.-55+1570T>C (n.-55+1570T>C)
4g.125317547T>GCA358117275FAT4c.1136T>G (p.Leu379Arg)
c.-55+1570T>G (n.-55+1570T>G)
4g.125317548G>ACA3071923FAT4c.1137G>A (p.Leu379=)
c.-55+1571G>A (n.-55+1571G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317548G>CCA441366599FAT4c.1137G>C (p.Leu379=)
c.-55+1571G>C (n.-55+1571G>C)
 gnomAD v4
4g.125317548G=CA1491600115FAT4c.1137G= (p.Leu379=)
c.-55+1571G= (n.-55+1571G=)
4g.125317548G>TCA441366600FAT4c.1137G>T (p.Leu379=)
c.-55+1571G>T (n.-55+1571G>T)
4g.125317549C>ACA358117278FAT4c.1138C>A (p.Leu380Ile)
c.-55+1572C>A (n.-55+1572C>A)
4g.125317549C>GCA358117277FAT4c.1138C>G (p.Leu380Val)
c.-55+1572C>G (n.-55+1572C>G)
4g.125317549C>TCA358117279FAT4c.1138C>T (p.Leu380Phe)
c.-55+1572C>T (n.-55+1572C>T)
 gnomAD v4
4g.125317550T>ACA358117280FAT4c.1139T>A (p.Leu380His)
c.-55+1573T>A (n.-55+1573T>A)
4g.125317550T>CCA358117281FAT4c.1139T>C (p.Leu380Pro)
c.-55+1573T>C (n.-55+1573T>C)
4g.125317550T>GCA358117282FAT4c.1139T>G (p.Leu380Arg)
c.-55+1573T>G (n.-55+1573T>G)
4g.125317551C>ACA441366606FAT4c.1140C>A (p.Leu380=)
c.-55+1574C>A (n.-55+1574C>A)
 gnomAD v4
4g.125317551C>GCA441366605FAT4c.1140C>G (p.Leu380=)
c.-55+1574C>G (n.-55+1574C>G)
4g.125317551C>TCA441366604FAT4c.1140C>T (p.Leu380=)
c.-55+1574C>T (n.-55+1574C>T)
 gnomAD v4
4g.125317552A>CCA358117283FAT4c.1141A>C (p.Thr381Pro)
c.-55+1575A>C (n.-55+1575A>C)
4g.125317552A>GCA358117284FAT4c.1141A>G (p.Thr381Ala)
c.-55+1575A>G (n.-55+1575A>G)
4g.125317552A>TCA358117285FAT4c.1141A>T (p.Thr381Ser)
c.-55+1575A>T (n.-55+1575A>T)
4g.125317553C>ACA358117286FAT4c.1142C>A (p.Thr381Asn)
c.-55+1576C>A (n.-55+1576C>A)
4g.125317553C>GCA358117287FAT4c.1142C>G (p.Thr381Ser)
c.-55+1576C>G (n.-55+1576C>G)
4g.125317553C>TCA358117288FAT4c.1142C>T (p.Thr381Ile)
c.-55+1576C>T (n.-55+1576C>T)
4g.125317554C>ACA441366611FAT4c.1143C>A (p.Thr381=)
c.-55+1577C>A (n.-55+1577C>A)
4g.125317554C=CA1491600118FAT4c.1143C= (p.Thr381=)
c.-55+1577C= (n.-55+1577C=)
4g.125317554C>GCA441366613FAT4c.1143C>G (p.Thr381=)
c.-55+1577C>G (n.-55+1577C>G)
4g.125317554C>TCA104861873FAT4c.1143C>T (p.Thr381=)
c.-55+1577C>T (n.-55+1577C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317555G>ACA3071924FAT4c.1144G>A (p.Val382Met)
c.-55+1578G>A (n.-55+1578G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317555G>CCA358117289FAT4c.1144G>C (p.Val382Leu)
c.-55+1578G>C (n.-55+1578G>C)
4g.125317555G=CA1491600122FAT4c.1144G= (p.Val382=)
c.-55+1578G= (n.-55+1578G=)
4g.125317555G>TCA358117290FAT4c.1144G>T (p.Val382Leu)
c.-55+1578G>T (n.-55+1578G>T)
4g.125317556T>ACA358117291FAT4c.1145T>A (p.Val382Glu)
c.-55+1579T>A (n.-55+1579T>A)
4g.125317556T>CCA358117293FAT4c.1145T>C (p.Val382Ala)
c.-55+1579T>C (n.-55+1579T>C)
4g.125317556T>GCA358117292FAT4c.1145T>G (p.Val382Gly)
c.-55+1579T>G (n.-55+1579T>G)
4g.125317557G>ACA441366619FAT4c.1146G>A (p.Val382=)
c.-55+1580G>A (n.-55+1580G>A)
 gnomAD v4
4g.125317557G>CCA441366620FAT4c.1146G>C (p.Val382=)
c.-55+1580G>C (n.-55+1580G>C)
4g.125317557G>TCA441366621FAT4c.1146G>T (p.Val382=)
c.-55+1580G>T (n.-55+1580G>T)
4g.125317558A>CCA358117294FAT4c.1147A>C (p.Thr383Pro)
c.-55+1581A>C (n.-55+1581A>C)
4g.125317558A>GCA358117295FAT4c.1147A>G (p.Thr383Ala)
c.-55+1581A>G (n.-55+1581A>G)
4g.125317558A>TCA358117296FAT4c.1147A>T (p.Thr383Ser)
c.-55+1581A>T (n.-55+1581A>T)
4g.125317559C>ACA358117297FAT4c.1148C>A (p.Thr383Lys)
c.-55+1582C>A (n.-55+1582C>A)
 ClinVar gnomAD v4
4g.125317559C>GCA358117298FAT4c.1148C>G (p.Thr383Arg)
c.-55+1582C>G (n.-55+1582C>G)
4g.125317559C>TCA358117299FAT4c.1148C>T (p.Thr383Met)
c.-55+1582C>T (n.-55+1582C>T)
 ClinVar gnomAD v4
4g.125317560G>ACA3071925FAT4c.1149G>A (p.Thr383=)
c.-55+1583G>A (n.-55+1583G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317560G>CCA441366625FAT4c.1149G>C (p.Thr383=)
c.-55+1583G>C (n.-55+1583G>C)
 gnomAD v4
4g.125317560G=CA1491600130FAT4c.1149G= (p.Thr383=)
c.-55+1583G= (n.-55+1583G=)
4g.125317560G>TCA441366626FAT4c.1149G>T (p.Thr383=)
c.-55+1583G>T (n.-55+1583G>T)
4g.125317561G>ACA358117300FAT4c.1150G>A (p.Asp384Asn)
c.-55+1584G>A (n.-55+1584G>A)
4g.125317561G>CCA358117301FAT4c.1150G>C (p.Asp384His)
c.-55+1584G>C (n.-55+1584G>C)
4g.125317561G>TCA358117302FAT4c.1150G>T (p.Asp384Tyr)
c.-55+1584G>T (n.-55+1584G>T)
4g.125317562A>CCA358117305FAT4c.1151A>C (p.Asp384Ala)
c.-55+1585A>C (n.-55+1585A>C)
4g.125317562A>GCA358117304FAT4c.1151A>G (p.Asp384Gly)
c.-55+1585A>G (n.-55+1585A>G)
4g.125317562A>TCA358117303FAT4c.1151A>T (p.Asp384Val)
c.-55+1585A>T (n.-55+1585A>T)
4g.125317563C>ACA358117306FAT4c.1152C>A (p.Asp384Glu)
c.-55+1586C>A (n.-55+1586C>A)
4g.125317563C>GCA358117307FAT4c.1152C>G (p.Asp384Glu)
c.-55+1586C>G (n.-55+1586C>G)
4g.125317563C>TCA441366629FAT4c.1152C>T (p.Asp384=)
c.-55+1586C>T (n.-55+1586C>T)
 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317564G>ACA358117308FAT4c.1153G>A (p.Ala385Thr)
c.-55+1587G>A (n.-55+1587G>A)
 COSMIC COSMIC
4g.125317564G>CCA358117309FAT4c.1153G>C (p.Ala385Pro)
c.-55+1587G>C (n.-55+1587G>C)
4g.125317564G=CA1491600136FAT4c.1153G= (p.Ala385=)
c.-55+1587G= (n.-55+1587G=)
4g.125317564G>TCA358117310FAT4c.1153G>T (p.Ala385Ser)
c.-55+1587G>T (n.-55+1587G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317565C>ACA358117311FAT4c.1154C>A (p.Ala385Glu)
c.-55+1588C>A (n.-55+1588C>A)
4g.125317565C=CA1491600140FAT4c.1154C= (p.Ala385=)
c.-55+1588C= (n.-55+1588C=)
4g.125317565C>GCA358117312FAT4c.1154C>G (p.Ala385Gly)
c.-55+1588C>G (n.-55+1588C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317565C>TCA358117313FAT4c.1154C>T (p.Ala385Val)
c.-55+1588C>T (n.-55+1588C>T)
4g.125317566A>CCA441366634FAT4c.1155A>C (p.Ala385=)
c.-55+1589A>C (n.-55+1589A>C)
4g.125317566A>GCA441366635FAT4c.1155A>G (p.Ala385=)
c.-55+1589A>G (n.-55+1589A>G)
4g.125317566A>TCA441366636FAT4c.1155A>T (p.Ala385=)
c.-55+1589A>T (n.-55+1589A>T)
4g.125317567G>ACA358117314FAT4c.1156G>A (p.Asp386Asn)
c.-55+1590G>A (n.-55+1590G>A)
4g.125317567G>CCA358117315FAT4c.1156G>C (p.Asp386His)
c.-55+1590G>C (n.-55+1590G>C)
 gnomAD v4
4g.125317567G>TCA358117316FAT4c.1156G>T (p.Asp386Tyr)
c.-55+1590G>T (n.-55+1590G>T)
4g.125317568A>CCA358117317FAT4c.1157A>C (p.Asp386Ala)
c.-55+1591A>C (n.-55+1591A>C)
4g.125317568A>GCA358117318FAT4c.1157A>G (p.Asp386Gly)
c.-55+1591A>G (n.-55+1591A>G)
4g.125317568A>TCA358117319FAT4c.1157A>T (p.Asp386Val)
c.-55+1591A>T (n.-55+1591A>T)
4g.125317569T>ACA358117320FAT4c.1158T>A (p.Asp386Glu)
c.-55+1592T>A (n.-55+1592T>A)
4g.125317569T>CCA441366643FAT4c.1158T>C (p.Asp386=)
c.-55+1592T>C (n.-55+1592T>C)
4g.125317569T>GCA358117321FAT4c.1158T>G (p.Asp386Glu)
c.-55+1592T>G (n.-55+1592T>G)
4g.125317569_125317570delCA2517501271FAT4c.1158_1159del (p.Pro388ArgfsTer15)
c.-55+1592_-55+1593del (n.-55+1592_-55+1593del)
4g.125317570T>ACA358117322FAT4c.1159T>A (p.Ser387Thr)
c.-55+1593T>A (n.-55+1593T>A)
4g.125317570T>CCA358117323FAT4c.1159T>C (p.Ser387Pro)
c.-55+1593T>C (n.-55+1593T>C)
4g.125317570T>GCA358117324FAT4c.1159T>G (p.Ser387Ala)
c.-55+1593T>G (n.-55+1593T>G)
4g.125317571C>ACA358117325FAT4c.1160C>A (p.Ser387Tyr)
c.-55+1594C>A (n.-55+1594C>A)
4g.125317571C>GCA358117326FAT4c.1160C>G (p.Ser387Cys)
c.-55+1594C>G (n.-55+1594C>G)
 gnomAD v4
4g.125317571C>TCA358117327FAT4c.1160C>T (p.Ser387Phe)
c.-55+1594C>T (n.-55+1594C>T)
4g.125317572T>ACA441366649FAT4c.1161T>A (p.Ser387=)
c.-55+1595T>A (n.-55+1595T>A)
4g.125317572T>CCA441366651FAT4c.1161T>C (p.Ser387=)
c.-55+1595T>C (n.-55+1595T>C)
4g.125317572T>GCA441366650FAT4c.1161T>G (p.Ser387=)
c.-55+1595T>G (n.-55+1595T>G)
4g.125317573C>ACA358117328FAT4c.1162C>A (p.Pro388Thr)
c.-55+1596C>A (n.-55+1596C>A)
4g.125317573C=CA1491600144FAT4c.1162C= (p.Pro388=)
c.-55+1596C= (n.-55+1596C=)
4g.125317573C>GCA358117329FAT4c.1162C>G (p.Pro388Ala)
c.-55+1596C>G (n.-55+1596C>G)
4g.125317573C>TCA3071926FAT4c.1162C>T (p.Pro388Ser)
c.-55+1596C>T (n.-55+1596C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317574C>ACA358117330FAT4c.1163C>A (p.Pro388His)
c.-55+1597C>A (n.-55+1597C>A)
4g.125317574C=CA1491600153FAT4c.1163C= (p.Pro388=)
c.-55+1597C= (n.-55+1597C=)
4g.125317574C>GCA358117331FAT4c.1163C>G (p.Pro388Arg)
c.-55+1597C>G (n.-55+1597C>G)
4g.125317574C>TCA16042548FAT4c.1163C>T (p.Pro388Leu)
c.-55+1597C>T (n.-55+1597C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317575C>ACA441366656FAT4c.1164C>A (p.Pro388=)
c.-55+1598C>A (n.-55+1598C>A)
4g.125317575C=CA1491600163FAT4c.1164C= (p.Pro388=)
c.-55+1598C= (n.-55+1598C=)
4g.125317575C>GCA441366657FAT4c.1164C>G (p.Pro388=)
c.-55+1598C>G (n.-55+1598C>G)
4g.125317575C>TCA3071927FAT4c.1164C>T (p.Pro388=)
c.-55+1598C>T (n.-55+1598C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317575_125317576insCACA2763419140FAT4c.1164_1165insCA (p.Ala389GlnfsTer30)
c.-55+1598_-55+1599insCA (n.-55+1598_-55+1599insCA)
4g.125317576G>ACA358117333FAT4c.1165G>A (p.Ala389Thr)
c.-55+1599G>A (n.-55+1599G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317576G>CCA358117332FAT4c.1165G>C (p.Ala389Pro)
c.-55+1599G>C (n.-55+1599G>C)
4g.125317576G=CA1491600171FAT4c.1165G= (p.Ala389=)
c.-55+1599G= (n.-55+1599G=)
4g.125317576G>TCA3071928FAT4c.1165G>T (p.Ala389Ser)
c.-55+1599G>T (n.-55+1599G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317577C>ACA358117334FAT4c.1166C>A (p.Ala389Glu)
c.-55+1600C>A (n.-55+1600C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317577C=CA1491600178FAT4c.1166C= (p.Ala389=)
c.-55+1600C= (n.-55+1600C=)
4g.125317577C>GCA358117335FAT4c.1166C>G (p.Ala389Gly)
c.-55+1600C>G (n.-55+1600C>G)
4g.125317577C>TCA358117336FAT4c.1166C>T (p.Ala389Val)
c.-55+1600C>T (n.-55+1600C>T)
4g.125317578G>ACA3071929FAT4c.1167G>A (p.Ala389=)
c.-55+1601G>A (n.-55+1601G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317578G>CCA441366662FAT4c.1167G>C (p.Ala389=)
c.-55+1601G>C (n.-55+1601G>C)
4g.125317578G=CA1491600180FAT4c.1167G= (p.Ala389=)
c.-55+1601G= (n.-55+1601G=)
4g.125317578G>TCA3071930FAT4c.1167G>T (p.Ala389=)
c.-55+1601G>T (n.-55+1601G>T)
 dbSNP ExAC
4g.125317579G>ACA358117338FAT4c.1168G>A (p.Ala390Thr)
c.-55+1602G>A (n.-55+1602G>A)
4g.125317579G>CCA358117337FAT4c.1168G>C (p.Ala390Pro)
c.-55+1602G>C (n.-55+1602G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125317579G=CA1491600188FAT4c.1168G= (p.Ala390=)
c.-55+1602G= (n.-55+1602G=)
4g.125317579G>TCA3071931FAT4c.1168G>T (p.Ala390Ser)
c.-55+1602G>T (n.-55+1602G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317580C>ACA358117339FAT4c.1169C>A (p.Ala390Asp)
c.-55+1603C>A (n.-55+1603C>A)
4g.125317580C=CA1491600198FAT4c.1169C= (p.Ala390=)
c.-55+1603C= (n.-55+1603C=)
4g.125317580C>GCA358117340FAT4c.1169C>G (p.Ala390Gly)
c.-55+1603C>G (n.-55+1603C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317580C>TCA358117341FAT4c.1169C>T (p.Ala390Val)
c.-55+1603C>T (n.-55+1603C>T)
4g.125317581C>ACA441366668FAT4c.1170C>A (p.Ala390=)
c.-55+1604C>A (n.-55+1604C>A)
4g.125317581C>GCA441366671FAT4c.1170C>G (p.Ala390=)
c.-55+1604C>G (n.-55+1604C>G)
4g.125317581C>TCA441366673FAT4c.1170C>T (p.Ala390=)
c.-55+1604C>T (n.-55+1604C>T)
 gnomAD v4
4g.125317582A>CCA358117342FAT4c.1171A>C (p.Asn391His)
c.-55+1605A>C (n.-55+1605A>C)
4g.125317582A>GCA358117343FAT4c.1171A>G (p.Asn391Asp)
c.-55+1605A>G (n.-55+1605A>G)
4g.125317582A>TCA358117344FAT4c.1171A>T (p.Asn391Tyr)
c.-55+1605A>T (n.-55+1605A>T)
4g.125317583A>CCA358117345FAT4c.1172A>C (p.Asn391Thr)
c.-55+1606A>C (n.-55+1606A>C)
4g.125317583A>GCA358117347FAT4c.1172A>G (p.Asn391Ser)
c.-55+1606A>G (n.-55+1606A>G)
4g.125317583A>TCA358117346FAT4c.1172A>T (p.Asn391Ile)
c.-55+1606A>T (n.-55+1606A>T)
4g.125317584C>ACA358117348FAT4c.1173C>A (p.Asn391Lys)
c.-55+1607C>A (n.-55+1607C>A)
 gnomAD v4
4g.125317584C=CA1491600203FAT4c.1173C= (p.Asn391=)
c.-55+1607C= (n.-55+1607C=)
4g.125317584C>GCA358117349FAT4c.1173C>G (p.Asn391Lys)
c.-55+1607C>G (n.-55+1607C>G)
 dbSNP
4g.125317584C>TCA3071932FAT4c.1173C>T (p.Asn391=)
c.-55+1607C>T (n.-55+1607C>T)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
4g.125317585G>ACA3071933FAT4c.1174G>A (p.Gly392Arg)
c.-55+1608G>A (n.-55+1608G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317585G>CCA358117350FAT4c.1174G>C (p.Gly392Arg)
c.-55+1608G>C (n.-55+1608G>C)
 gnomAD v4
4g.125317585G=CA1491600205FAT4c.1174G= (p.Gly392=)
c.-55+1608G= (n.-55+1608G=)
4g.125317585G>TCA358117351FAT4c.1174G>T (p.Gly392Trp)
c.-55+1608G>T (n.-55+1608G>T)
 gnomAD v4
4g.125317586G>ACA358117352FAT4c.1175G>A (p.Gly392Glu)
c.-55+1609G>A (n.-55+1609G>A)
 dbSNP
4g.125317586G>CCA358117353FAT4c.1175G>C (p.Gly392Ala)
c.-55+1609G>C (n.-55+1609G>C)
4g.125317586G>TCA358117354FAT4c.1175G>T (p.Gly392Val)
c.-55+1609G>T (n.-55+1609G>T)
4g.125317587G>ACA441366682FAT4c.1176G>A (p.Gly392=)
c.-55+1610G>A (n.-55+1610G>A)
 gnomAD v4
4g.125317587G>CCA3071934FAT4c.1176G>C (p.Gly392=)
c.-55+1610G>C (n.-55+1610G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317587G=CA1491600209FAT4c.1176G= (p.Gly392=)
c.-55+1610G= (n.-55+1610G=)
4g.125317587G>TCA441366687FAT4c.1176G>T (p.Gly392=)
c.-55+1610G>T (n.-55+1610G>T)
4g.125317588A=CA1491600213FAT4c.1177A= (p.Asn393=)
c.-55+1611A= (n.-55+1611A=)
4g.125317588A>CCA358117356FAT4c.1177A>C (p.Asn393His)
c.-55+1611A>C (n.-55+1611A>C)
4g.125317588A>GCA3071935FAT4c.1177A>G (p.Asn393Asp)
c.-55+1611A>G (n.-55+1611A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317588A>TCA358117355FAT4c.1177A>T (p.Asn393Tyr)
c.-55+1611A>T (n.-55+1611A>T)
4g.125317589A>CCA358117357FAT4c.1178A>C (p.Asn393Thr)
c.-55+1612A>C (n.-55+1612A>C)
4g.125317589A>GCA358117358FAT4c.1178A>G (p.Asn393Ser)
c.-55+1612A>G (n.-55+1612A>G)
 gnomAD v4
4g.125317589A>TCA358117359FAT4c.1178A>T (p.Asn393Ile)
c.-55+1612A>T (n.-55+1612A>T)
4g.125317590C>ACA358117360FAT4c.1179C>A (p.Asn393Lys)
c.-55+1613C>A (n.-55+1613C>A)
 dbSNP gnomAD v4
4g.125317590C=CA1491600217FAT4c.1179C= (p.Asn393=)
c.-55+1613C= (n.-55+1613C=)
4g.125317590C>GCA358117361FAT4c.1179C>G (p.Asn393Lys)
c.-55+1613C>G (n.-55+1613C>G)
 gnomAD v4
4g.125317590C>TCA441366692FAT4c.1179C>T (p.Asn393=)
c.-55+1613C>T (n.-55+1613C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317591A>CCA358117362FAT4c.1180A>C (p.Ile394Leu)
c.-55+1614A>C (n.-55+1614A>C)
4g.125317591A>GCA358117363FAT4c.1180A>G (p.Ile394Val)
c.-55+1614A>G (n.-55+1614A>G)
 gnomAD v4
4g.125317591A>TCA358117364FAT4c.1180A>T (p.Ile394Phe)
c.-55+1614A>T (n.-55+1614A>T)
4g.125317592T>ACA358117365FAT4c.1181T>A (p.Ile394Asn)
c.-55+1615T>A (n.-55+1615T>A)
4g.125317592T>CCA358117366FAT4c.1181T>C (p.Ile394Thr)
c.-55+1615T>C (n.-55+1615T>C)
4g.125317592T>GCA358117367FAT4c.1181T>G (p.Ile394Ser)
c.-55+1615T>G (n.-55+1615T>G)
4g.125317593C>ACA441366699FAT4c.1182C>A (p.Ile394=)
c.-55+1616C>A (n.-55+1616C>A)
 dbSNP gnomAD v4
4g.125317593C=CA1491600225FAT4c.1182C= (p.Ile394=)
c.-55+1616C= (n.-55+1616C=)
4g.125317593C>GCA358117368FAT4c.1182C>G (p.Ile394Met)
c.-55+1616C>G (n.-55+1616C>G)
4g.125317593C>TCA441366695FAT4c.1182C>T (p.Ile394=)
c.-55+1616C>T (n.-55+1616C>T)
4g.125317594T>ACA358117371FAT4c.1183T>A (p.Ser395Thr)
c.-55+1617T>A (n.-55+1617T>A)
4g.125317594T>CCA358117370FAT4c.1183T>C (p.Ser395Pro)
c.-55+1617T>C (n.-55+1617T>C)
4g.125317594T>GCA358117369FAT4c.1183T>G (p.Ser395Ala)
c.-55+1617T>G (n.-55+1617T>G)
4g.125317595C>ACA358117372FAT4c.1184C>A (p.Ser395Tyr)
c.-55+1618C>A (n.-55+1618C>A)
4g.125317595C>GCA358117373FAT4c.1184C>G (p.Ser395Cys)
c.-55+1618C>G (n.-55+1618C>G)
4g.125317595C>TCA358117374FAT4c.1184C>T (p.Ser395Phe)
c.-55+1618C>T (n.-55+1618C>T)
4g.125317596C>ACA441366706FAT4c.1185C>A (p.Ser395=)
c.-55+1619C>A (n.-55+1619C>A)
 gnomAD v4
4g.125317596C=CA1491600234FAT4c.1185C= (p.Ser395=)
c.-55+1619C= (n.-55+1619C=)
4g.125317596C>GCA441366707FAT4c.1185C>G (p.Ser395=)
c.-55+1619C>G (n.-55+1619C>G)
4g.125317596C>TCA441366708FAT4c.1185C>T (p.Ser395=)
c.-55+1619C>T (n.-55+1619C>T)
 dbSNP COSMIC COSMIC
4g.125317597G>ACA3071936FAT4c.1186G>A (p.Val396Met)
c.-55+1620G>A (n.-55+1620G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317597G>CCA3071937FAT4c.1186G>C (p.Val396Leu)
c.-55+1620G>C (n.-55+1620G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317597G=CA1491600248FAT4c.1186G= (p.Val396=)
c.-55+1620G= (n.-55+1620G=)
4g.125317597G>TCA104861938FAT4c.1186G>T (p.Val396Leu)
c.-55+1620G>T (n.-55+1620G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317598T>ACA358117375FAT4c.1187T>A (p.Val396Glu)
c.-55+1621T>A (n.-55+1621T>A)
4g.125317598T>CCA358117376FAT4c.1187T>C (p.Val396Ala)
c.-55+1621T>C (n.-55+1621T>C)
4g.125317598T>GCA358117377FAT4c.1187T>G (p.Val396Gly)
c.-55+1621T>G (n.-55+1621T>G)
4g.125317599G>ACA441366715FAT4c.1188G>A (p.Val396=)
c.-55+1622G>A (n.-55+1622G>A)
 dbSNP
4g.125317599G>CCA441366716FAT4c.1188G>C (p.Val396=)
c.-55+1622G>C (n.-55+1622G>C)
4g.125317599G=CA1491600253FAT4c.1188G= (p.Val396=)
c.-55+1622G= (n.-55+1622G=)
4g.125317599G>TCA441366717FAT4c.1188G>T (p.Val396=)
c.-55+1622G>T (n.-55+1622G>T)
4g.125317600C>ACA358117378FAT4c.1189C>A (p.Gln397Lys)
c.-55+1623C>A (n.-55+1623C>A)
4g.125317600C>GCA358117379FAT4c.1189C>G (p.Gln397Glu)
c.-55+1623C>G (n.-55+1623C>G)
4g.125317600C>TCA358117380FAT4c.1189C>T (p.Gln397Ter)
c.-55+1623C>T (n.-55+1623C>T)
4g.125317601A=CA1491600257FAT4c.1190A= (p.Gln397=)
c.-55+1624A= (n.-55+1624A=)
4g.125317601A>CCA358117382FAT4c.1190A>C (p.Gln397Pro)
c.-55+1624A>C (n.-55+1624A>C)
4g.125317601A>GCA3071938FAT4c.1190A>G (p.Gln397Arg)
c.-55+1624A>G (n.-55+1624A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317601A>TCA358117381FAT4c.1190A>T (p.Gln397Leu)
c.-55+1624A>T (n.-55+1624A>T)
4g.125317602A>CCA358117383FAT4c.1191A>C (p.Gln397His)
c.-55+1625A>C (n.-55+1625A>C)
4g.125317602A>GCA441366723FAT4c.1191A>G (p.Gln397=)
c.-55+1625A>G (n.-55+1625A>G)
4g.125317602A>TCA358117384FAT4c.1191A>T (p.Gln397His)
c.-55+1625A>T (n.-55+1625A>T)
4g.125317603A>CCA358117385FAT4c.1192A>C (p.Ile398Leu)
c.-55+1626A>C (n.-55+1626A>C)
4g.125317603A>GCA358117387FAT4c.1192A>G (p.Ile398Val)
c.-55+1626A>G (n.-55+1626A>G)
4g.125317603A>TCA358117386FAT4c.1192A>T (p.Ile398Phe)
c.-55+1626A>T (n.-55+1626A>T)
4g.125317604T>ACA358117388FAT4c.1193T>A (p.Ile398Asn)
c.-55+1627T>A (n.-55+1627T>A)
4g.125317604T>CCA358117389FAT4c.1193T>C (p.Ile398Thr)
c.-55+1627T>C (n.-55+1627T>C)
4g.125317604T>GCA358117390FAT4c.1193T>G (p.Ile398Ser)
c.-55+1627T>G (n.-55+1627T>G)
4g.125317605T>ACA441366732FAT4c.1194T>A (p.Ile398=)
c.-55+1628T>A (n.-55+1628T>A)
4g.125317605T>CCA441366734FAT4c.1194T>C (p.Ile398=)
c.-55+1628T>C (n.-55+1628T>C)
4g.125317605T>GCA358117391FAT4c.1194T>G (p.Ile398Met)
c.-55+1628T>G (n.-55+1628T>G)
4g.125317605_125317606delinsTCCA1491600264FAT4c.1194_1195delinsTC (p.Ile398=)
c.-55+1628_-55+1629delinsTC (n.-55+1628_-55+1629delinsTC)
4g.125317606delCA170763FAT4c.1195del (p.Leu399SerfsTer19)
c.-55+1629del (n.-55+1629del)
 ClinVar dbSNP
4g.125317606C>ACA358117392FAT4c.1195C>A (p.Leu399Ile)
c.-55+1629C>A (n.-55+1629C>A)
 ClinVar
4g.125317606C>GCA358117393FAT4c.1195C>G (p.Leu399Val)
c.-55+1629C>G (n.-55+1629C>G)
4g.125317606C>TCA358117394FAT4c.1195C>T (p.Leu399Phe)
c.-55+1629C>T (n.-55+1629C>T)

Number of alleles fetched