Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
4g.125317607T>ACA358117395FAT4c.1196T>A (p.Leu399His)
c.-55+1630T>A (n.-55+1630T>A)
4g.125317607T>CCA358117396FAT4c.1196T>C (p.Leu399Pro)
c.-55+1630T>C (n.-55+1630T>C)
 gnomAD v4
4g.125317607T>GCA358117397FAT4c.1196T>G (p.Leu399Arg)
c.-55+1630T>G (n.-55+1630T>G)
4g.125317608C>ACA441366741FAT4c.1197C>A (p.Leu399=)
c.-55+1631C>A (n.-55+1631C>A)
 gnomAD v4
4g.125317608C=CA1491600284FAT4c.1197C= (p.Leu399=)
c.-55+1631C= (n.-55+1631C=)
4g.125317608C>GCA441366739FAT4c.1197C>G (p.Leu399=)
c.-55+1631C>G (n.-55+1631C>G)
4g.125317608C>TCA441366740FAT4c.1197C>T (p.Leu399=)
c.-55+1631C>T (n.-55+1631C>T)
 dbSNP gnomAD v2
4g.125317609G>ACA358117399FAT4c.1198G>A (p.Gly400Arg)
c.-55+1632G>A (n.-55+1632G>A)
4g.125317609G>CCA358117398FAT4c.1198G>C (p.Gly400Arg)
c.-55+1632G>C (n.-55+1632G>C)
 gnomAD v4
4g.125317609G=CA1491600288FAT4c.1198G= (p.Gly400=)
c.-55+1632G= (n.-55+1632G=)
4g.125317609G>TCA3071939FAT4c.1198G>T (p.Gly400Trp)
c.-55+1632G>T (n.-55+1632G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317610G>ACA358117400FAT4c.1199G>A (p.Gly400Glu)
c.-55+1633G>A (n.-55+1633G>A)
4g.125317610G>CCA358117401FAT4c.1199G>C (p.Gly400Ala)
c.-55+1633G>C (n.-55+1633G>C)
4g.125317610G>TCA358117402FAT4c.1199G>T (p.Gly400Val)
c.-55+1633G>T (n.-55+1633G>T)
4g.125317611G>ACA441366744FAT4c.1200G>A (p.Gly400=)
c.-55+1634G>A (n.-55+1634G>A)
4g.125317611G>CCA441366745FAT4c.1200G>C (p.Gly400=)
c.-55+1634G>C (n.-55+1634G>C)
4g.125317611G>TCA441366746FAT4c.1200G>T (p.Gly400=)
c.-55+1634G>T (n.-55+1634G>T)
4g.125317612G>ACA358117403FAT4c.1201G>A (p.Gly401Ser)
c.-55+1635G>A (n.-55+1635G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317612G>CCA358117404FAT4c.1201G>C (p.Gly401Arg)
c.-55+1635G>C (n.-55+1635G>C)
4g.125317612G>TCA358117405FAT4c.1201G>T (p.Gly401Cys)
c.-55+1635G>T (n.-55+1635G>T)
4g.125317613G>ACA358117406FAT4c.1202G>A (p.Gly401Asp)
c.-55+1636G>A (n.-55+1636G>A)
 gnomAD v4
4g.125317613G>CCA358117407FAT4c.1202G>C (p.Gly401Ala)
c.-55+1636G>C (n.-55+1636G>C)
4g.125317613G=CA1491600295FAT4c.1202G= (p.Gly401=)
c.-55+1636G= (n.-55+1636G=)
4g.125317613G>TCA3071940FAT4c.1202G>T (p.Gly401Val)
c.-55+1636G>T (n.-55+1636G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317614C>ACA441366750FAT4c.1203C>A (p.Gly401=)
c.-55+1637C>A (n.-55+1637C>A)
4g.125317614C>GCA441366751FAT4c.1203C>G (p.Gly401=)
c.-55+1637C>G (n.-55+1637C>G)
4g.125317614C>TCA441366752FAT4c.1203C>T (p.Gly401=)
c.-55+1637C>T (n.-55+1637C>T)
4g.125317615A>CCA358117408FAT4c.1204A>C (p.Asn402His)
c.-55+1638A>C (n.-55+1638A>C)
4g.125317615A>GCA358117409FAT4c.1204A>G (p.Asn402Asp)
c.-55+1638A>G (n.-55+1638A>G)
4g.125317615A>TCA358117410FAT4c.1204A>T (p.Asn402Tyr)
c.-55+1638A>T (n.-55+1638A>T)
4g.125317616A=CA1491600300FAT4c.1205A= (p.Asn402=)
c.-55+1639A= (n.-55+1639A=)
4g.125317616A>CCA358117413FAT4c.1205A>C (p.Asn402Thr)
c.-55+1639A>C (n.-55+1639A>C)
4g.125317616A>GCA358117412FAT4c.1205A>G (p.Asn402Ser)
c.-55+1639A>G (n.-55+1639A>G)
 dbSNP gnomAD v4
4g.125317616A>TCA358117411FAT4c.1205A>T (p.Asn402Ile)
c.-55+1639A>T (n.-55+1639A>T)
4g.125317617T>ACA358117414FAT4c.1206T>A (p.Asn402Lys)
c.-55+1640T>A (n.-55+1640T>A)
4g.125317617T>CCA441366757FAT4c.1206T>C (p.Asn402=)
c.-55+1640T>C (n.-55+1640T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317617T>GCA358117415FAT4c.1206T>G (p.Asn402Lys)
c.-55+1640T>G (n.-55+1640T>G)
 gnomAD v4
4g.125317617T=CA1491600303FAT4c.1206T= (p.Asn402=)
c.-55+1640T= (n.-55+1640T=)
4g.125317618G>ACA358117416FAT4c.1207G>A (p.Glu403Lys)
c.-55+1641G>A (n.-55+1641G>A)
4g.125317618G>CCA358117417FAT4c.1207G>C (p.Glu403Gln)
c.-55+1641G>C (n.-55+1641G>C)
4g.125317618G>TCA358117418FAT4c.1207G>T (p.Glu403Ter)
c.-55+1641G>T (n.-55+1641G>T)
4g.125317619A>CCA358117419FAT4c.1208A>C (p.Glu403Ala)
c.-55+1642A>C (n.-55+1642A>C)
4g.125317619A>GCA358117420FAT4c.1208A>G (p.Glu403Gly)
c.-55+1642A>G (n.-55+1642A>G)
4g.125317619A>TCA358117421FAT4c.1208A>T (p.Glu403Val)
c.-55+1642A>T (n.-55+1642A>T)
4g.125317620G>ACA441366763FAT4c.1209G>A (p.Glu403=)
c.-55+1643G>A (n.-55+1643G>A)
4g.125317620G>CCA358117422FAT4c.1209G>C (p.Glu403Asp)
c.-55+1643G>C (n.-55+1643G>C)
4g.125317620G>TCA358117423FAT4c.1209G>T (p.Glu403Asp)
c.-55+1643G>T (n.-55+1643G>T)
4g.125317621C>ACA358117424FAT4c.1210C>A (p.Gln404Lys)
c.-55+1644C>A (n.-55+1644C>A)
4g.125317621C>GCA358117425FAT4c.1210C>G (p.Gln404Glu)
c.-55+1644C>G (n.-55+1644C>G)
4g.125317621C>TCA358117426FAT4c.1210C>T (p.Gln404Ter)
c.-55+1644C>T (n.-55+1644C>T)
4g.125317622A=CA1491600307FAT4c.1211A= (p.Gln404=)
c.-55+1645A= (n.-55+1645A=)
4g.125317622A>CCA3071941FAT4c.1211A>C (p.Gln404Pro)
c.-55+1645A>C (n.-55+1645A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317622A>GCA358117427FAT4c.1211A>G (p.Gln404Arg)
c.-55+1645A>G (n.-55+1645A>G)
4g.125317622A>TCA358117428FAT4c.1211A>T (p.Gln404Leu)
c.-55+1645A>T (n.-55+1645A>T)
4g.125317623G>ACA441366770FAT4c.1212G>A (p.Gln404=)
c.-55+1646G>A (n.-55+1646G>A)
4g.125317623G>CCA358117429FAT4c.1212G>C (p.Gln404His)
c.-55+1646G>C (n.-55+1646G>C)
4g.125317623G=CA1491600312FAT4c.1212G= (p.Gln404=)
c.-55+1646G= (n.-55+1646G=)
4g.125317623G>TCA3071942FAT4c.1212G>T (p.Gln404His)
c.-55+1646G>T (n.-55+1646G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317624C>ACA358117430FAT4c.1213C>A (p.Arg405Ser)
c.-55+1647C>A (n.-55+1647C>A)
4g.125317624C>GCA358117431FAT4c.1213C>G (p.Arg405Gly)
c.-55+1647C>G (n.-55+1647C>G)
4g.125317624C>TCA358117432FAT4c.1213C>T (p.Arg405Cys)
c.-55+1647C>T (n.-55+1647C>T)
4g.125317625G>ACA358117433FAT4c.1214G>A (p.Arg405His)
c.-55+1648G>A (n.-55+1648G>A)
 dbSNP COSMIC COSMIC
4g.125317625G>CCA358117434FAT4c.1214G>C (p.Arg405Pro)
c.-55+1648G>C (n.-55+1648G>C)
4g.125317625G=CA1491600317FAT4c.1214G= (p.Arg405=)
c.-55+1648G= (n.-55+1648G=)
4g.125317625G>TCA3071943FAT4c.1214G>T (p.Arg405Leu)
c.-55+1648G>T (n.-55+1648G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317626C>ACA441366778FAT4c.1215C>A (p.Arg405=)
c.-55+1649C>A (n.-55+1649C>A)
4g.125317626C>GCA441366779FAT4c.1215C>G (p.Arg405=)
c.-55+1649C>G (n.-55+1649C>G)
4g.125317626C>TCA441366780FAT4c.1215C>T (p.Arg405=)
c.-55+1649C>T (n.-55+1649C>T)
4g.125317627C>ACA358117435FAT4c.1216C>A (p.His406Asn)
c.-55+1650C>A (n.-55+1650C>A)
4g.125317627C>GCA358117436FAT4c.1216C>G (p.His406Asp)
c.-55+1650C>G (n.-55+1650C>G)
4g.125317627C>TCA358117437FAT4c.1216C>T (p.His406Tyr)
c.-55+1650C>T (n.-55+1650C>T)
4g.125317628A=CA1491600320FAT4c.1217A= (p.His406=)
c.-55+1651A= (n.-55+1651A=)
4g.125317628A>CCA358117440FAT4c.1217A>C (p.His406Pro)
c.-55+1651A>C (n.-55+1651A>C)
4g.125317628A>GCA358117439FAT4c.1217A>G (p.His406Arg)
c.-55+1651A>G (n.-55+1651A>G)
 dbSNP gnomAD v4
4g.125317628A>TCA358117438FAT4c.1217A>T (p.His406Leu)
c.-55+1651A>T (n.-55+1651A>T)
4g.125317629C>ACA358117441FAT4c.1218C>A (p.His406Gln)
c.-55+1652C>A (n.-55+1652C>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317629C=CA1491600326FAT4c.1218C= (p.His406=)
c.-55+1652C= (n.-55+1652C=)
4g.125317629C>GCA358117442FAT4c.1218C>G (p.His406Gln)
c.-55+1652C>G (n.-55+1652C>G)
 COSMIC COSMIC
4g.125317629C>TCA441366789FAT4c.1218C>T (p.His406=)
c.-55+1652C>T (n.-55+1652C>T)
 ClinVar dbSNP gnomAD v4
4g.125317630T>ACA358117443FAT4c.1219T>A (p.Phe407Ile)
c.-55+1653T>A (n.-55+1653T>A)
4g.125317630T>CCA358117444FAT4c.1219T>C (p.Phe407Leu)
c.-55+1653T>C (n.-55+1653T>C)
 ClinVar gnomAD v4
4g.125317630T>GCA358117445FAT4c.1219T>G (p.Phe407Val)
c.-55+1653T>G (n.-55+1653T>G)
4g.125317631T>ACA358117446FAT4c.1220T>A (p.Phe407Tyr)
c.-55+1654T>A (n.-55+1654T>A)
4g.125317631T>CCA358117447FAT4c.1220T>C (p.Phe407Ser)
c.-55+1654T>C (n.-55+1654T>C)
4g.125317631T>GCA358117448FAT4c.1220T>G (p.Phe407Cys)
c.-55+1654T>G (n.-55+1654T>G)
 COSMIC COSMIC
4g.125317632T>ACA358117449FAT4c.1221T>A (p.Phe407Leu)
c.-55+1655T>A (n.-55+1655T>A)
4g.125317632T>CCA3071944FAT4c.1221T>C (p.Phe407=)
c.-55+1655T>C (n.-55+1655T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317632T>GCA358117450FAT4c.1221T>G (p.Phe407Leu)
c.-55+1655T>G (n.-55+1655T>G)
4g.125317632T=CA1491600327FAT4c.1221T= (p.Phe407=)
c.-55+1655T= (n.-55+1655T=)
4g.125317633G>ACA3071945FAT4c.1222G>A (p.Glu408Lys)
c.-55+1656G>A (n.-55+1656G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317633G>CCA358117451FAT4c.1222G>C (p.Glu408Gln)
c.-55+1656G>C (n.-55+1656G>C)
4g.125317633G=CA1491600332FAT4c.1222G= (p.Glu408=)
c.-55+1656G= (n.-55+1656G=)
4g.125317633G>TCA358117452FAT4c.1222G>T (p.Glu408Ter)
c.-55+1656G>T (n.-55+1656G>T)
4g.125317634A=CA1491600339FAT4c.1223A= (p.Glu408=)
c.-55+1657A= (n.-55+1657A=)
4g.125317634A>CCA358117454FAT4c.1223A>C (p.Glu408Ala)
c.-55+1657A>C (n.-55+1657A>C)
4g.125317634A>GCA104862029FAT4c.1223A>G (p.Glu408Gly)
c.-55+1657A>G (n.-55+1657A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317634A>TCA358117453FAT4c.1223A>T (p.Glu408Val)
c.-55+1657A>T (n.-55+1657A>T)
4g.125317635A>CCA358117455FAT4c.1224A>C (p.Glu408Asp)
c.-55+1658A>C (n.-55+1658A>C)
4g.125317635A>GCA441366817FAT4c.1224A>G (p.Glu408=)
c.-55+1658A>G (n.-55+1658A>G)
4g.125317635A>TCA358117456FAT4c.1224A>T (p.Glu408Asp)
c.-55+1658A>T (n.-55+1658A>T)
4g.125317636G>ACA358117457FAT4c.1225G>A (p.Val409Met)
c.-55+1659G>A (n.-55+1659G>A)
 gnomAD v4
4g.125317636G>CCA358117458FAT4c.1225G>C (p.Val409Leu)
c.-55+1659G>C (n.-55+1659G>C)
4g.125317636G>TCA358117459FAT4c.1225G>T (p.Val409Leu)
c.-55+1659G>T (n.-55+1659G>T)

Number of alleles fetched