Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317675G>ACA3071950FAT4c.1264G>A (p.Val422Met)
c.-55+1698G>A (n.-55+1698G>A)
dbSNP ExAC gnomAD v2
4g.125317675G>CCA358117545FAT4c.1264G>C (p.Val422Leu)
c.-55+1698G>C (n.-55+1698G>C)
4g.125317675G=CA1491600445FAT4c.1264G= (p.Val422=)
c.-55+1698G= (n.-55+1698G=)
4g.125317675G>TCA358117544FAT4c.1264G>T (p.Val422Leu)
c.-55+1698G>T (n.-55+1698G>T)
gnomAD v4
4g.125317676T>ACA358117546FAT4c.1265T>A (p.Val422Glu)
c.-55+1699T>A (n.-55+1699T>A)
4g.125317676T>CCA358117547FAT4c.1265T>C (p.Val422Ala)
c.-55+1699T>C (n.-55+1699T>C)
dbSNP gnomAD v4
4g.125317676T>GCA358117548FAT4c.1265T>G (p.Val422Gly)
c.-55+1699T>G (n.-55+1699T>G)
4g.125317676T=CA1491600450FAT4c.1265T= (p.Val422=)
c.-55+1699T= (n.-55+1699T=)
4g.125317677G>ACA441366975FAT4c.1266G>A (p.Val422=)
c.-55+1700G>A (n.-55+1700G>A)
4g.125317677G>CCA441366977FAT4c.1266G>C (p.Val422=)
c.-55+1700G>C (n.-55+1700G>C)
4g.125317677G>TCA441366981FAT4c.1266G>T (p.Val422=)
c.-55+1700G>T (n.-55+1700G>T)
4g.125317678G>ACA358117549FAT4c.1267G>A (p.Ala423Thr)
c.-55+1701G>A (n.-55+1701G>A)
4g.125317678G>CCA358117550FAT4c.1267G>C (p.Ala423Pro)
c.-55+1701G>C (n.-55+1701G>C)
4g.125317678G>TCA358117551FAT4c.1267G>T (p.Ala423Ser)
c.-55+1701G>T (n.-55+1701G>T)
4g.125317679C>ACA358117552FAT4c.1268C>A (p.Ala423Asp)
c.-55+1702C>A (n.-55+1702C>A)
4g.125317679C=CA1491600455FAT4c.1268C= (p.Ala423=)
c.-55+1702C= (n.-55+1702C=)
4g.125317679C>GCA358117553FAT4c.1268C>G (p.Ala423Gly)
c.-55+1702C>G (n.-55+1702C>G)
4g.125317679C>TCA358117554FAT4c.1268C>T (p.Ala423Val)
c.-55+1702C>T (n.-55+1702C>T)
dbSNP gnomAD v2
4g.125317680C>ACA441366987FAT4c.1269C>A (p.Ala423=)
c.-55+1703C>A (n.-55+1703C>A)
4g.125317680C>GCA441366989FAT4c.1269C>G (p.Ala423=)
c.-55+1703C>G (n.-55+1703C>G)
4g.125317680C>TCA441366991FAT4c.1269C>T (p.Ala423=)
c.-55+1703C>T (n.-55+1703C>T)
4g.125317681A>CCA358117555FAT4c.1270A>C (p.Ser424Arg)
c.-55+1704A>C (n.-55+1704A>C)
4g.125317681A>GCA358117556FAT4c.1270A>G (p.Ser424Gly)
c.-55+1704A>G (n.-55+1704A>G)
4g.125317681A>TCA358117557FAT4c.1270A>T (p.Ser424Cys)
c.-55+1704A>T (n.-55+1704A>T)
4g.125317682G>ACA358117560FAT4c.1271G>A (p.Ser424Asn)
c.-55+1705G>A (n.-55+1705G>A)
4g.125317682G>CCA358117559FAT4c.1271G>C (p.Ser424Thr)
c.-55+1705G>C (n.-55+1705G>C)
4g.125317682G>TCA358117558FAT4c.1271G>T (p.Ser424Ile)
c.-55+1705G>T (n.-55+1705G>T)
4g.125317683C>ACA3071951FAT4c.1272C>A (p.Ser424Arg)
c.-55+1706C>A (n.-55+1706C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317683C=CA1491600461FAT4c.1272C= (p.Ser424=)
c.-55+1706C= (n.-55+1706C=)
4g.125317683C>GCA358117561FAT4c.1272C>G (p.Ser424Arg)
c.-55+1706C>G (n.-55+1706C>G)
4g.125317683C>TCA441366997FAT4c.1272C>T (p.Ser424=)
c.-55+1706C>T (n.-55+1706C>T)
gnomAD v4
4g.125317684G>ACA358117562FAT4c.1273G>A (p.Ala425Thr)
c.-55+1707G>A (n.-55+1707G>A)
4g.125317684G>CCA3071952FAT4c.1273G>C (p.Ala425Pro)
c.-55+1707G>C (n.-55+1707G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317684G=CA1491600473FAT4c.1273G= (p.Ala425=)
c.-55+1707G= (n.-55+1707G=)
4g.125317684G>TCA3071953FAT4c.1273G>T (p.Ala425Ser)
c.-55+1707G>T (n.-55+1707G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317685C>ACA358117563FAT4c.1274C>A (p.Ala425Asp)
c.-55+1708C>A (n.-55+1708C>A)
4g.125317685C>GCA358117564FAT4c.1274C>G (p.Ala425Gly)
c.-55+1708C>G (n.-55+1708C>G)
4g.125317685C>TCA358117565FAT4c.1274C>T (p.Ala425Val)
c.-55+1708C>T (n.-55+1708C>T)
4g.125317686C>ACA441367007FAT4c.1275C>A (p.Ala425=)
c.-55+1709C>A (n.-55+1709C>A)
4g.125317686C=CA1491600476FAT4c.1275C= (p.Ala425=)
c.-55+1709C= (n.-55+1709C=)
4g.125317686C>GCA3071954FAT4c.1275C>G (p.Ala425=)
c.-55+1709C>G (n.-55+1709C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317686C>TCA441367008FAT4c.1275C>T (p.Ala425=)
c.-55+1709C>T (n.-55+1709C>T)
ClinVar gnomAD v4
4g.125317687T>ACA358117566FAT4c.1276T>A (p.Leu426Met)
c.-55+1710T>A (n.-55+1710T>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125317687T>CCA441367011FAT4c.1276T>C (p.Leu426=)
c.-55+1710T>C (n.-55+1710T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125317687T>GCA358117567FAT4c.1276T>G (p.Leu426Val)
c.-55+1710T>G (n.-55+1710T>G)
4g.125317687T=CA1491600482FAT4c.1276T= (p.Leu426=)
c.-55+1710T= (n.-55+1710T=)
4g.125317688T>ACA358117568FAT4c.1277T>A (p.Leu426Ter)
c.-55+1711T>A (n.-55+1711T>A)
4g.125317688T>CCA358117569FAT4c.1277T>C (p.Leu426Ser)
c.-55+1711T>C (n.-55+1711T>C)
4g.125317688T>GCA358117570FAT4c.1277T>G (p.Leu426Trp)
c.-55+1711T>G (n.-55+1711T>G)
4g.125317689G>ACA441367016FAT4c.1278G>A (p.Leu426=)
c.-55+1712G>A (n.-55+1712G>A)
gnomAD v4
4g.125317689G>CCA358117571FAT4c.1278G>C (p.Leu426Phe)
c.-55+1712G>C (n.-55+1712G>C)
4g.125317689G>TCA358117572FAT4c.1278G>T (p.Leu426Phe)
c.-55+1712G>T (n.-55+1712G>T)
4g.125317690G>ACA358117573FAT4c.1279G>A (p.Asp427Asn)
c.-55+1713G>A (n.-55+1713G>A)
4g.125317690G>CCA358117575FAT4c.1279G>C (p.Asp427His)
c.-55+1713G>C (n.-55+1713G>C)
4g.125317690G>TCA358117574FAT4c.1279G>T (p.Asp427Tyr)
c.-55+1713G>T (n.-55+1713G>T)
4g.125317691A>CCA358117576FAT4c.1280A>C (p.Asp427Ala)
c.-55+1714A>C (n.-55+1714A>C)
4g.125317691A>GCA358117577FAT4c.1280A>G (p.Asp427Gly)
c.-55+1714A>G (n.-55+1714A>G)
4g.125317691A>TCA358117578FAT4c.1280A>T (p.Asp427Val)
c.-55+1714A>T (n.-55+1714A>T)
4g.125317692C>ACA358117579FAT4c.1281C>A (p.Asp427Glu)
c.-55+1715C>A (n.-55+1715C>A)
gnomAD v4
4g.125317692C=CA1491600484FAT4c.1281C= (p.Asp427=)
c.-55+1715C= (n.-55+1715C=)
4g.125317692C>GCA358117580FAT4c.1281C>G (p.Asp427Glu)
c.-55+1715C>G (n.-55+1715C>G)
dbSNP
4g.125317692C>TCA441367024FAT4c.1281C>T (p.Asp427=)
c.-55+1715C>T (n.-55+1715C>T)
4g.125317693C>ACA358117581FAT4c.1282C>A (p.Arg428Ser)
c.-55+1716C>A (n.-55+1716C>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317693C=CA1491600487FAT4c.1282C= (p.Arg428=)
c.-55+1716C= (n.-55+1716C=)
4g.125317693C>GCA358117582FAT4c.1282C>G (p.Arg428Gly)
c.-55+1716C>G (n.-55+1716C>G)
4g.125317693C>TCA358117583FAT4c.1282C>T (p.Arg428Cys)
c.-55+1716C>T (n.-55+1716C>T)
gnomAD v4
4g.125317694G>ACA358117584FAT4c.1283G>A (p.Arg428His)
c.-55+1717G>A (n.-55+1717G>A)
dbSNP
4g.125317694G>CCA358117585FAT4c.1283G>C (p.Arg428Pro)
c.-55+1717G>C (n.-55+1717G>C)
4g.125317694G>TCA358117586FAT4c.1283G>T (p.Arg428Leu)
c.-55+1717G>T (n.-55+1717G>T)
4g.125317695C>ACA441367034FAT4c.1284C>A (p.Arg428=)
c.-55+1718C>A (n.-55+1718C>A)
4g.125317695C=CA1491600490FAT4c.1284C= (p.Arg428=)
c.-55+1718C= (n.-55+1718C=)
4g.125317695C>GCA441367035FAT4c.1284C>G (p.Arg428=)
c.-55+1718C>G (n.-55+1718C>G)
gnomAD v4
4g.125317695C>TCA104862152FAT4c.1284C>T (p.Arg428=)
c.-55+1718C>T (n.-55+1718C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317696G>ACA358117589FAT4c.1285G>A (p.Glu429Lys)
c.-55+1719G>A (n.-55+1719G>A)
4g.125317696G>CCA358117587FAT4c.1285G>C (p.Glu429Gln)
c.-55+1719G>C (n.-55+1719G>C)
gnomAD v4
4g.125317696G>TCA358117588FAT4c.1285G>T (p.Glu429Ter)
c.-55+1719G>T (n.-55+1719G>T)
4g.125317697A>CCA358117590FAT4c.1286A>C (p.Glu429Ala)
c.-55+1720A>C (n.-55+1720A>C)
4g.125317697A>GCA358117591FAT4c.1286A>G (p.Glu429Gly)
c.-55+1720A>G (n.-55+1720A>G)
4g.125317697A>TCA358117592FAT4c.1286A>T (p.Glu429Val)
c.-55+1720A>T (n.-55+1720A>T)
4g.125317698G>ACA441367046FAT4c.1287G>A (p.Glu429=)
c.-55+1721G>A (n.-55+1721G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317698G>CCA358117593FAT4c.1287G>C (p.Glu429Asp)
c.-55+1721G>C (n.-55+1721G>C)
4g.125317698G=CA1491600495FAT4c.1287G= (p.Glu429=)
c.-55+1721G= (n.-55+1721G=)
4g.125317698G>TCA358117594FAT4c.1287G>T (p.Glu429Asp)
c.-55+1721G>T (n.-55+1721G>T)
4g.125317699C>ACA358117595FAT4c.1288C>A (p.Arg430Ser)
c.-55+1722C>A (n.-55+1722C>A)
4g.125317699C>GCA358117596FAT4c.1288C>G (p.Arg430Gly)
c.-55+1722C>G (n.-55+1722C>G)
gnomAD v4
4g.125317699C>TCA358117597FAT4c.1288C>T (p.Arg430Cys)
c.-55+1722C>T (n.-55+1722C>T)
4g.125317700G>ACA3071955FAT4c.1289G>A (p.Arg430His)
c.-55+1723G>A (n.-55+1723G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317700G>CCA358117598FAT4c.1289G>C (p.Arg430Pro)
c.-55+1723G>C (n.-55+1723G>C)
dbSNP gnomAD v4
4g.125317700G=CA1491600500FAT4c.1289G= (p.Arg430=)
c.-55+1723G= (n.-55+1723G=)
4g.125317700G>TCA3071956FAT4c.1289G>T (p.Arg430Leu)
c.-55+1723G>T (n.-55+1723G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317701C>ACA441367054FAT4c.1290C>A (p.Arg430=)
c.-55+1724C>A (n.-55+1724C>A)
4g.125317701C=CA1491600509FAT4c.1290C= (p.Arg430=)
c.-55+1724C= (n.-55+1724C=)
4g.125317701C>GCA441367058FAT4c.1290C>G (p.Arg430=)
c.-55+1724C>G (n.-55+1724C>G)
dbSNP gnomAD v2
4g.125317701C>TCA441367061FAT4c.1290C>T (p.Arg430=)
c.-55+1724C>T (n.-55+1724C>T)
4g.125317702A>CCA358117601FAT4c.1291A>C (p.Ile431Leu)
c.-55+1725A>C (n.-55+1725A>C)
ClinVar dbSNP
4g.125317702A>GCA358117599FAT4c.1291A>G (p.Ile431Val)
c.-55+1725A>G (n.-55+1725A>G)
4g.125317702A>TCA358117600FAT4c.1291A>T (p.Ile431Phe)
c.-55+1725A>T (n.-55+1725A>T)
4g.125317703T>ACA3071957FAT4c.1292T>A (p.Ile431Asn)
c.-55+1726T>A (n.-55+1726T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317703T>CCA358117602FAT4c.1292T>C (p.Ile431Thr)
c.-55+1726T>C (n.-55+1726T>C)
dbSNP
4g.125317703T>GCA358117603FAT4c.1292T>G (p.Ile431Ser)
c.-55+1726T>G (n.-55+1726T>G)
4g.125317703T=CA1491600516FAT4c.1292T= (p.Ile431=)
c.-55+1726T= (n.-55+1726T=)
4g.125317704C>ACA441367072FAT4c.1293C>A (p.Ile431=)
c.-55+1727C>A (n.-55+1727C>A)
4g.125317704C>GCA358117604FAT4c.1293C>G (p.Ile431Met)
c.-55+1727C>G (n.-55+1727C>G)
4g.125317704C>TCA441367069FAT4c.1293C>T (p.Ile431=)
c.-55+1727C>T (n.-55+1727C>T)
gnomAD v4
4g.125317705C>ACA358117605FAT4c.1294C>A (p.Pro432Thr)
c.-55+1728C>A (n.-55+1728C>A)
gnomAD v4
4g.125317705C=CA1491600521FAT4c.1294C= (p.Pro432=)
c.-55+1728C= (n.-55+1728C=)
4g.125317705C>GCA358117606FAT4c.1294C>G (p.Pro432Ala)
c.-55+1728C>G (n.-55+1728C>G)
4g.125317705C>TCA3071958FAT4c.1294C>T (p.Pro432Ser)
c.-55+1728C>T (n.-55+1728C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317706C>ACA358117607FAT4c.1295C>A (p.Pro432His)
c.-55+1729C>A (n.-55+1729C>A)
4g.125317706C=CA1491600526FAT4c.1295C= (p.Pro432=)
c.-55+1729C= (n.-55+1729C=)
4g.125317706C>GCA358117608FAT4c.1295C>G (p.Pro432Arg)
c.-55+1729C>G (n.-55+1729C>G)
dbSNP gnomAD v3 gnomAD v4
4g.125317706C>TCA358117609FAT4c.1295C>T (p.Pro432Leu)
c.-55+1729C>T (n.-55+1729C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317707T>ACA441367077FAT4c.1296T>A (p.Pro432=)
c.-55+1730T>A (n.-55+1730T>A)
gnomAD v4
4g.125317707T>CCA3071959FAT4c.1296T>C (p.Pro432=)
c.-55+1730T>C (n.-55+1730T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317707T>GCA441367082FAT4c.1296T>G (p.Pro432=)
c.-55+1730T>G (n.-55+1730T>G)
4g.125317707T=CA1491600533FAT4c.1296T= (p.Pro432=)
c.-55+1730T= (n.-55+1730T=)
4g.125317708T>ACA358117612FAT4c.1297T>A (p.Ser433Thr)
c.-55+1731T>A (n.-55+1731T>A)
4g.125317708T>CCA358117611FAT4c.1297T>C (p.Ser433Pro)
c.-55+1731T>C (n.-55+1731T>C)
4g.125317708T>GCA358117610FAT4c.1297T>G (p.Ser433Ala)
c.-55+1731T>G (n.-55+1731T>G)
4g.125317709C>ACA358117613FAT4c.1298C>A (p.Ser433Tyr)
c.-55+1732C>A (n.-55+1732C>A)
4g.125317709C>GCA358117615FAT4c.1298C>G (p.Ser433Cys)
c.-55+1732C>G (n.-55+1732C>G)
dbSNP gnomAD v4
4g.125317709C>TCA358117614FAT4c.1298C>T (p.Ser433Phe)
c.-55+1732C>T (n.-55+1732C>T)
4g.125317710C>ACA441367091FAT4c.1299C>A (p.Ser433=)
c.-55+1733C>A (n.-55+1733C>A)
gnomAD v4
4g.125317710C=CA1491600539FAT4c.1299C= (p.Ser433=)
c.-55+1733C= (n.-55+1733C=)
4g.125317710C>GCA3071960FAT4c.1299C>G (p.Ser433=)
c.-55+1733C>G (n.-55+1733C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317710C>TCA441367093FAT4c.1299C>T (p.Ser433=)
c.-55+1733C>T (n.-55+1733C>T)
gnomAD v4
4g.125317711T>ACA358117616FAT4c.1300T>A (p.Tyr434Asn)
c.-55+1734T>A (n.-55+1734T>A)
4g.125317711T>CCA358117617FAT4c.1300T>C (p.Tyr434His)
c.-55+1734T>C (n.-55+1734T>C)
4g.125317711T>GCA358117618FAT4c.1300T>G (p.Tyr434Asp)
c.-55+1734T>G (n.-55+1734T>G)
4g.125317712A>CCA358117619FAT4c.1301A>C (p.Tyr434Ser)
c.-55+1735A>C (n.-55+1735A>C)
4g.125317712A>GCA358117620FAT4c.1301A>G (p.Tyr434Cys)
c.-55+1735A>G (n.-55+1735A>G)
4g.125317712A>TCA358117621FAT4c.1301A>T (p.Tyr434Phe)
c.-55+1735A>T (n.-55+1735A>T)
4g.125317713C>ACA358117622FAT4c.1302C>A (p.Tyr434Ter)
c.-55+1736C>A (n.-55+1736C>A)
gnomAD v4
4g.125317713C=CA1491600545FAT4c.1302C= (p.Tyr434=)
c.-55+1736C= (n.-55+1736C=)
4g.125317713C>GCA358117623FAT4c.1302C>G (p.Tyr434Ter)
c.-55+1736C>G (n.-55+1736C>G)
4g.125317713C>TCA441367098FAT4c.1302C>T (p.Tyr434=)
c.-55+1736C>T (n.-55+1736C>T)
dbSNP
4g.125317714A>CCA358117624FAT4c.1303A>C (p.Asn435His)
c.-55+1737A>C (n.-55+1737A>C)
4g.125317714A>GCA358117625FAT4c.1303A>G (p.Asn435Asp)
c.-55+1737A>G (n.-55+1737A>G)
4g.125317714A>TCA358117626FAT4c.1303A>T (p.Asn435Tyr)
c.-55+1737A>T (n.-55+1737A>T)
4g.125317715A>CCA358117629FAT4c.1304A>C (p.Asn435Thr)
c.-55+1738A>C (n.-55+1738A>C)
4g.125317715A>GCA358117627FAT4c.1304A>G (p.Asn435Ser)
c.-55+1738A>G (n.-55+1738A>G)
4g.125317715A>TCA358117628FAT4c.1304A>T (p.Asn435Ile)
c.-55+1738A>T (n.-55+1738A>T)
4g.125317716C>ACA358117630FAT4c.1305C>A (p.Asn435Lys)
c.-55+1739C>A (n.-55+1739C>A)
4g.125317716C>GCA358117631FAT4c.1305C>G (p.Asn435Lys)
c.-55+1739C>G (n.-55+1739C>G)
4g.125317716C>TCA441367106FAT4c.1305C>T (p.Asn435=)
c.-55+1739C>T (n.-55+1739C>T)
gnomAD v4
4g.125317717C>ACA358117632FAT4c.1306C>A (p.Leu436Ile)
c.-55+1740C>A (n.-55+1740C>A)
4g.125317717C>GCA358117633FAT4c.1306C>G (p.Leu436Val)
c.-55+1740C>G (n.-55+1740C>G)
gnomAD v4
4g.125317717C>TCA358117634FAT4c.1306C>T (p.Leu436Phe)
c.-55+1740C>T (n.-55+1740C>T)
4g.125317717_125317718insCCACACCAAACACACCCACA2763419141FAT4c.1306_1307insCCACACCAAACACACCCA (p.Leu436delinsProThrProAsnThrProIle)
c.-55+1740_-55+1741insCCACACCAAACACACCCA (n.-55+1740_-55+1741insCCACACCAAACACACCCA)
4g.125317718T>ACA358117635FAT4c.1307T>A (p.Leu436His)
c.-55+1741T>A (n.-55+1741T>A)
4g.125317718T>CCA358117636FAT4c.1307T>C (p.Leu436Pro)
c.-55+1741T>C (n.-55+1741T>C)
4g.125317718T>GCA358117637FAT4c.1307T>G (p.Leu436Arg)
c.-55+1741T>G (n.-55+1741T>G)
4g.125317719C>ACA441367111FAT4c.1308C>A (p.Leu436=)
c.-55+1742C>A (n.-55+1742C>A)
4g.125317719C>GCA441367112FAT4c.1308C>G (p.Leu436=)
c.-55+1742C>G (n.-55+1742C>G)
4g.125317719C>TCA441367113FAT4c.1308C>T (p.Leu436=)
c.-55+1742C>T (n.-55+1742C>T)
4g.125317721_125317722delCA645539175FAT4c.1310_1311del (p.Thr437SerfsTer5)
c.-55+1744_-55+1745del (n.-55+1744_-55+1745del)
gnomAD v4 COSMIC COSMIC
4g.125317720A>CCA358117638FAT4c.1309A>C (p.Thr437Pro)
c.-55+1743A>C (n.-55+1743A>C)
4g.125317720A>GCA358117639FAT4c.1309A>G (p.Thr437Ala)
c.-55+1743A>G (n.-55+1743A>G)
4g.125317720A>TCA358117640FAT4c.1309A>T (p.Thr437Ser)
c.-55+1743A>T (n.-55+1743A>T)
4g.125317721C>ACA358117643FAT4c.1310C>A (p.Thr437Lys)
c.-55+1744C>A (n.-55+1744C>A)
4g.125317721C>GCA358117642FAT4c.1310C>G (p.Thr437Arg)
c.-55+1744C>G (n.-55+1744C>G)
4g.125317721C>TCA358117641FAT4c.1310C>T (p.Thr437Ile)
c.-55+1744C>T (n.-55+1744C>T)
4g.125317722A>CCA441367119FAT4c.1311A>C (p.Thr437=)
c.-55+1745A>C (n.-55+1745A>C)
4g.125317722A>GCA441367121FAT4c.1311A>G (p.Thr437=)
c.-55+1745A>G (n.-55+1745A>G)
4g.125317722A>TCA441367122FAT4c.1311A>T (p.Thr437=)
c.-55+1745A>T (n.-55+1745A>T)
4g.125317723G>ACA358117646FAT4c.1312G>A (p.Val438Ile)
c.-55+1746G>A (n.-55+1746G>A)
4g.125317723G>CCA358117644FAT4c.1312G>C (p.Val438Leu)
c.-55+1746G>C (n.-55+1746G>C)
gnomAD v4
4g.125317723G>TCA358117645FAT4c.1312G>T (p.Val438Phe)
c.-55+1746G>T (n.-55+1746G>T)
4g.125317724T>ACA358117647FAT4c.1313T>A (p.Val438Asp)
c.-55+1747T>A (n.-55+1747T>A)
4g.125317724T>CCA358117648FAT4c.1313T>C (p.Val438Ala)
c.-55+1747T>C (n.-55+1747T>C)
dbSNP gnomAD v2
4g.125317724T>GCA358117649FAT4c.1313T>G (p.Val438Gly)
c.-55+1747T>G (n.-55+1747T>G)
4g.125317724T=CA1491600553FAT4c.1313T= (p.Val438=)
c.-55+1747T= (n.-55+1747T=)
4g.125317725T>ACA441367130FAT4c.1314T>A (p.Val438=)
c.-55+1748T>A (n.-55+1748T>A)
4g.125317725T>CCA441367132FAT4c.1314T>C (p.Val438=)
c.-55+1748T>C (n.-55+1748T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125317725T>GCA441367134FAT4c.1314T>G (p.Val438=)
c.-55+1748T>G (n.-55+1748T>G)
4g.125317725T=CA1491600562FAT4c.1314T= (p.Val438=)
c.-55+1748T= (n.-55+1748T=)
4g.125317726T>ACA104862179FAT4c.1315T>A (p.Ser439Thr)
c.-55+1749T>A (n.-55+1749T>A)
dbSNP gnomAD v3 gnomAD v4
4g.125317726T>CCA358117651FAT4c.1315T>C (p.Ser439Pro)
c.-55+1749T>C (n.-55+1749T>C)
4g.125317726T>GCA358117650FAT4c.1315T>G (p.Ser439Ala)
c.-55+1749T>G (n.-55+1749T>G)
4g.125317726T=CA1491600568FAT4c.1315T= (p.Ser439=)
c.-55+1749T= (n.-55+1749T=)
4g.125317727C>ACA104862186FAT4c.1316C>A (p.Ser439Tyr)
c.-55+1750C>A (n.-55+1750C>A)
dbSNP gnomAD v3 gnomAD v4
4g.125317727C=CA1491600572FAT4c.1316C= (p.Ser439=)
c.-55+1750C= (n.-55+1750C=)
4g.125317727C>GCA3071961FAT4c.1316C>G (p.Ser439Cys)
c.-55+1750C>G (n.-55+1750C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317727C>TCA104862203FAT4c.1316C>T (p.Ser439Phe)
c.-55+1750C>T (n.-55+1750C>T)
dbSNP gnomAD v3 gnomAD v4
4g.125317728C>ACA441367141FAT4c.1317C>A (p.Ser439=)
c.-55+1751C>A (n.-55+1751C>A)
4g.125317728C>GCA441367143FAT4c.1317C>G (p.Ser439=)
c.-55+1751C>G (n.-55+1751C>G)
4g.125317728C>TCA441367144FAT4c.1317C>T (p.Ser439=)
c.-55+1751C>T (n.-55+1751C>T)
ClinVar
4g.125317729G>ACA358117652FAT4c.1318G>A (p.Val440Ile)
c.-55+1752G>A (n.-55+1752G>A)
4g.125317729G>CCA358117653FAT4c.1318G>C (p.Val440Leu)
c.-55+1752G>C (n.-55+1752G>C)
4g.125317729G>TCA358117654FAT4c.1318G>T (p.Val440Phe)
c.-55+1752G>T (n.-55+1752G>T)
4g.125317729_125317731delinsGTCCA1491600578FAT4c.1318_1320delinsGTC (p.Val440=)
c.-55+1752_-55+1754delinsGTC (n.-55+1752_-55+1754delinsGTC)
4g.125317730T>ACA358117655FAT4c.1319T>A (p.Val440Asp)
c.-55+1753T>A (n.-55+1753T>A)
4g.125317730T>CCA358117657FAT4c.1319T>C (p.Val440Ala)
c.-55+1753T>C (n.-55+1753T>C)
4g.125317730T>GCA358117656FAT4c.1319T>G (p.Val440Gly)
c.-55+1753T>G (n.-55+1753T>G)
4g.125317733_125317734delCA917297917FAT4c.1322_1323del (p.Ser441Ter)
c.-55+1756_-55+1757del (n.-55+1756_-55+1757del)
dbSNP gnomAD v4
4g.125317731C>ACA441367155FAT4c.1320C>A (p.Val440=)
c.-55+1754C>A (n.-55+1754C>A)
4g.125317731C=CA1491600585FAT4c.1320C= (p.Val440=)
c.-55+1754C= (n.-55+1754C=)
4g.125317731C>GCA441367153FAT4c.1320C>G (p.Val440=)
c.-55+1754C>G (n.-55+1754C>G)
4g.125317731C>TCA441367151FAT4c.1320C>T (p.Val440=)
c.-55+1754C>T (n.-55+1754C>T)
dbSNP gnomAD v4
4g.125317732T>ACA358117658FAT4c.1321T>A (p.Ser441Thr)
c.-55+1755T>A (n.-55+1755T>A)
4g.125317732T>CCA358117659FAT4c.1321T>C (p.Ser441Pro)
c.-55+1755T>C (n.-55+1755T>C)
4g.125317732T>GCA358117660FAT4c.1321T>G (p.Ser441Ala)
c.-55+1755T>G (n.-55+1755T>G)
4g.125317733C>ACA358117661FAT4c.1322C>A (p.Ser441Tyr)
c.-55+1756C>A (n.-55+1756C>A)
4g.125317733C=CA1491600587FAT4c.1322C= (p.Ser441=)
c.-55+1756C= (n.-55+1756C=)
4g.125317733C>GCA358117662FAT4c.1322C>G (p.Ser441Cys)
c.-55+1756C>G (n.-55+1756C>G)
4g.125317733C>TCA358117663FAT4c.1322C>T (p.Ser441Phe)
c.-55+1756C>T (n.-55+1756C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317734T>ACA441367160FAT4c.1323T>A (p.Ser441=)
c.-55+1757T>A (n.-55+1757T>A)
4g.125317734T>CCA441367159FAT4c.1323T>C (p.Ser441=)
c.-55+1757T>C (n.-55+1757T>C)
dbSNP gnomAD v4
4g.125317734T>GCA441367158FAT4c.1323T>G (p.Ser441=)
c.-55+1757T>G (n.-55+1757T>G)
4g.125317734T=CA1491600590FAT4c.1323T= (p.Ser441=)
c.-55+1757T= (n.-55+1757T=)
4g.125317734_125317747delCA2572834861FAT4c.1323_1336del (p.Asp442AlafsTer20)
c.-55+1757_-55+1770del (n.-55+1757_-55+1770del)
4g.125317735G>ACA358117664FAT4c.1324G>A (p.Asp442Asn)
c.-55+1758G>A (n.-55+1758G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317735G>CCA358117665FAT4c.1324G>C (p.Asp442His)
c.-55+1758G>C (n.-55+1758G>C)
dbSNP gnomAD v3 gnomAD v4
4g.125317735G=CA1491600596FAT4c.1324G= (p.Asp442=)
c.-55+1758G= (n.-55+1758G=)
4g.125317735G>TCA358117666FAT4c.1324G>T (p.Asp442Tyr)
c.-55+1758G>T (n.-55+1758G>T)
4g.125317736A>CCA358117667FAT4c.1325A>C (p.Asp442Ala)
c.-55+1759A>C (n.-55+1759A>C)
4g.125317736A>GCA358117668FAT4c.1325A>G (p.Asp442Gly)
c.-55+1759A>G (n.-55+1759A>G)
gnomAD v4
4g.125317736A>TCA358117669FAT4c.1325A>T (p.Asp442Val)
c.-55+1759A>T (n.-55+1759A>T)
4g.125317737T>ACA358117671FAT4c.1326T>A (p.Asp442Glu)
c.-55+1760T>A (n.-55+1760T>A)
4g.125317737T>CCA3071962FAT4c.1326T>C (p.Asp442=)
c.-55+1760T>C (n.-55+1760T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317737T>GCA358117670FAT4c.1326T>G (p.Asp442Glu)
c.-55+1760T>G (n.-55+1760T>G)
4g.125317737T=CA1491600601FAT4c.1326T= (p.Asp442=)
c.-55+1760T= (n.-55+1760T=)
4g.125317738A>CCA358117672FAT4c.1327A>C (p.Asn443His)
c.-55+1761A>C (n.-55+1761A>C)
4g.125317738A>GCA358117674FAT4c.1327A>G (p.Asn443Asp)
c.-55+1761A>G (n.-55+1761A>G)
4g.125317738A>TCA358117673FAT4c.1327A>T (p.Asn443Tyr)
c.-55+1761A>T (n.-55+1761A>T)
4g.125317739A=CA1491600614FAT4c.1328A= (p.Asn443=)
c.-55+1762A= (n.-55+1762A=)
4g.125317739A>CCA358117675FAT4c.1328A>C (p.Asn443Thr)
c.-55+1762A>C (n.-55+1762A>C)
4g.125317739A>GCA104862216FAT4c.1328A>G (p.Asn443Ser)
c.-55+1762A>G (n.-55+1762A>G)
ClinVar dbSNP gnomAD v4
4g.125317739A>TCA358117676FAT4c.1328A>T (p.Asn443Ile)
c.-55+1762A>T (n.-55+1762A>T)
4g.125317740C>ACA358117677FAT4c.1329C>A (p.Asn443Lys)
c.-55+1763C>A (n.-55+1763C>A)
4g.125317740C>GCA358117678FAT4c.1329C>G (p.Asn443Lys)
c.-55+1763C>G (n.-55+1763C>G)
4g.125317740C>TCA441367177FAT4c.1329C>T (p.Asn443=)
c.-55+1763C>T (n.-55+1763C>T)
4g.125317741T>ACA358117679FAT4c.1330T>A (p.Tyr444Asn)
c.-55+1764T>A (n.-55+1764T>A)
4g.125317741T>CCA358117680FAT4c.1330T>C (p.Tyr444His)
c.-55+1764T>C (n.-55+1764T>C)
4g.125317741T>GCA358117681FAT4c.1330T>G (p.Tyr444Asp)
c.-55+1764T>G (n.-55+1764T>G)
4g.125317742A>CCA358117682FAT4c.1331A>C (p.Tyr444Ser)
c.-55+1765A>C (n.-55+1765A>C)
4g.125317742A>GCA358117683FAT4c.1331A>G (p.Tyr444Cys)
c.-55+1765A>G (n.-55+1765A>G)
4g.125317742A>TCA358117684FAT4c.1331A>T (p.Tyr444Phe)
c.-55+1765A>T (n.-55+1765A>T)
4g.125317743C>ACA358117686FAT4c.1332C>A (p.Tyr444Ter)
c.-55+1766C>A (n.-55+1766C>A)
4g.125317743C=CA1491600618FAT4c.1332C= (p.Tyr444=)
c.-55+1766C= (n.-55+1766C=)
4g.125317743C>GCA358117685FAT4c.1332C>G (p.Tyr444Ter)
c.-55+1766C>G (n.-55+1766C>G)
4g.125317743C>TCA441367183FAT4c.1332C>T (p.Tyr444=)
c.-55+1766C>T (n.-55+1766C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317744G>ACA358117687FAT4c.1333G>A (p.Gly445Arg)
c.-55+1767G>A (n.-55+1767G>A)
COSMIC COSMIC
4g.125317744G>CCA358117688FAT4c.1333G>C (p.Gly445Arg)
c.-55+1767G>C (n.-55+1767G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317744G=CA1491600628FAT4c.1333G= (p.Gly445=)
c.-55+1767G= (n.-55+1767G=)
4g.125317744G>TCA358117689FAT4c.1333G>T (p.Gly445Trp)
c.-55+1767G>T (n.-55+1767G>T)
dbSNP gnomAD v3 gnomAD v4
4g.125317745G>ACA358117690FAT4c.1334G>A (p.Gly445Glu)
c.-55+1768G>A (n.-55+1768G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317745G>CCA358117691FAT4c.1334G>C (p.Gly445Ala)
c.-55+1768G>C (n.-55+1768G>C)
4g.125317745G=CA1491600632FAT4c.1334G= (p.Gly445=)
c.-55+1768G= (n.-55+1768G=)
4g.125317745G>TCA358117692FAT4c.1334G>T (p.Gly445Val)
c.-55+1768G>T (n.-55+1768G>T)
4g.125317746G>ACA104862227FAT4c.1335G>A (p.Gly445=)
c.-55+1769G>A (n.-55+1769G>A)
dbSNP gnomAD v3 gnomAD v4
4g.125317746G>CCA441367191FAT4c.1335G>C (p.Gly445=)
c.-55+1769G>C (n.-55+1769G>C)
4g.125317746G=CA1491600641FAT4c.1335G= (p.Gly445=)
c.-55+1769G= (n.-55+1769G=)
4g.125317746G>TCA441367194FAT4c.1335G>T (p.Gly445=)
c.-55+1769G>T (n.-55+1769G>T)
gnomAD v4
4g.125317747G>ACA358117693FAT4c.1336G>A (p.Ala446Thr)
c.-55+1770G>A (n.-55+1770G>A)
4g.125317747G>CCA358117694FAT4c.1336G>C (p.Ala446Pro)
c.-55+1770G>C (n.-55+1770G>C)
4g.125317747G>TCA358117695FAT4c.1336G>T (p.Ala446Ser)
c.-55+1770G>T (n.-55+1770G>T)
4g.125317748C>ACA3071963FAT4c.1337C>A (p.Ala446Glu)
c.-55+1771C>A (n.-55+1771C>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317748C=CA1491600645FAT4c.1337C= (p.Ala446=)
c.-55+1771C= (n.-55+1771C=)
4g.125317748C>GCA358117696FAT4c.1337C>G (p.Ala446Gly)
c.-55+1771C>G (n.-55+1771C>G)
4g.125317748C>TCA358117697FAT4c.1337C>T (p.Ala446Val)
c.-55+1771C>T (n.-55+1771C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125317749G>ACA441367201FAT4c.1338G>A (p.Ala446=)
c.-55+1772G>A (n.-55+1772G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317749G>CCA441367202FAT4c.1338G>C (p.Ala446=)
c.-55+1772G>C (n.-55+1772G>C)
4g.125317749G=CA1491600649FAT4c.1338G= (p.Ala446=)
c.-55+1772G= (n.-55+1772G=)
4g.125317749G>TCA441367204FAT4c.1338G>T (p.Ala446=)
c.-55+1772G>T (n.-55+1772G>T)
dbSNP gnomAD v4
4g.125317750C>ACA358117699FAT4c.1339C>A (p.Pro447Thr)
c.-55+1773C>A (n.-55+1773C>A)
dbSNP
4g.125317750C=CA1491600657FAT4c.1339C= (p.Pro447=)
c.-55+1773C= (n.-55+1773C=)
4g.125317750C>GCA3071964FAT4c.1339C>G (p.Pro447Ala)
c.-55+1773C>G (n.-55+1773C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317750C>TCA358117698FAT4c.1339C>T (p.Pro447Ser)
c.-55+1773C>T (n.-55+1773C>T)
4g.125317751C>ACA358117700FAT4c.1340C>A (p.Pro447His)
c.-55+1774C>A (n.-55+1774C>A)
gnomAD v4
4g.125317751C=CA1491600669FAT4c.1340C= (p.Pro447=)
c.-55+1774C= (n.-55+1774C=)
4g.125317751C>GCA358117701FAT4c.1340C>G (p.Pro447Arg)
c.-55+1774C>G (n.-55+1774C>G)
4g.125317751C>TCA3071965FAT4c.1340C>T (p.Pro447Leu)
c.-55+1774C>T (n.-55+1774C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317752C>ACA441366471FAT4c.1341C>A (p.Pro447=)
c.-55+1775C>A (n.-55+1775C>A)
4g.125317752C=CA1491600671FAT4c.1341C= (p.Pro447=)
c.-55+1775C= (n.-55+1775C=)
4g.125317752C>GCA441366470FAT4c.1341C>G (p.Pro447=)
c.-55+1775C>G (n.-55+1775C>G)
4g.125317752C>TCA441366469FAT4c.1341C>T (p.Pro447=)
c.-55+1775C>T (n.-55+1775C>T)
dbSNP
4g.125317753C>ACA358117702FAT4c.1342C>A (p.Pro448Thr)
c.-55+1776C>A (n.-55+1776C>A)
4g.125317753C=CA1491600679FAT4c.1342C= (p.Pro448=)
c.-55+1776C= (n.-55+1776C=)
4g.125317753C>GCA358117703FAT4c.1342C>G (p.Pro448Ala)
c.-55+1776C>G (n.-55+1776C>G)
4g.125317753C>TCA358117704FAT4c.1342C>T (p.Pro448Ser)
c.-55+1776C>T (n.-55+1776C>T)
dbSNP gnomAD v2 gnomAD v4
4g.125317754C>ACA358117705FAT4c.1343C>A (p.Pro448His)
c.-55+1777C>A (n.-55+1777C>A)
4g.125317754C=CA1491600686FAT4c.1343C= (p.Pro448=)
c.-55+1777C= (n.-55+1777C=)
4g.125317754C>GCA358117706FAT4c.1343C>G (p.Pro448Arg)
c.-55+1777C>G (n.-55+1777C>G)
4g.125317754C>TCA358117707FAT4c.1343C>T (p.Pro448Leu)
c.-55+1777C>T (n.-55+1777C>T)
dbSNP gnomAD v2 gnomAD v4
4g.125317755delCA2580652597FAT4c.1344del (p.Gly449AlafsTer14)
c.-55+1778del (n.-55+1778del)
gnomAD v4
4g.125317755T>ACA441366472FAT4c.1344T>A (p.Pro448=)
c.-55+1778T>A (n.-55+1778T>A)
4g.125317755T>CCA3071966FAT4c.1344T>C (p.Pro448=)
c.-55+1778T>C (n.-55+1778T>C)
dbSNP ExAC gnomAD v2
4g.125317755T>GCA441366473FAT4c.1344T>G (p.Pro448=)
c.-55+1778T>G (n.-55+1778T>G)
4g.125317755T=CA1491600692FAT4c.1344T= (p.Pro448=)
c.-55+1778T= (n.-55+1778T=)
4g.125317755_125317757delCA2541580480FAT4c.1344_1346del (p.Gly449del)
c.-55+1778_-55+1780del (n.-55+1778_-55+1780del)
4g.125317756G>ACA3071967FAT4c.1345G>A (p.Gly449Ser)
c.-55+1779G>A (n.-55+1779G>A)
dbSNP ExAC gnomAD v2 COSMIC COSMIC
4g.125317756G>CCA358117708FAT4c.1345G>C (p.Gly449Arg)
c.-55+1779G>C (n.-55+1779G>C)
ClinVar
4g.125317756G=CA1491600699FAT4c.1345G= (p.Gly449=)
c.-55+1779G= (n.-55+1779G=)
4g.125317756G>TCA358117709FAT4c.1345G>T (p.Gly449Cys)
c.-55+1779G>T (n.-55+1779G>T)
4g.125317757G>ACA358117712FAT4c.1346G>A (p.Gly449Asp)
c.-55+1780G>A (n.-55+1780G>A)
dbSNP gnomAD v2
4g.125317757G>CCA358117711FAT4c.1346G>C (p.Gly449Ala)
c.-55+1780G>C (n.-55+1780G>C)
4g.125317757G=CA1491600705FAT4c.1346G= (p.Gly449=)
c.-55+1780G= (n.-55+1780G=)
4g.125317757G>TCA358117710FAT4c.1346G>T (p.Gly449Val)
c.-55+1780G>T (n.-55+1780G>T)
4g.125317758C>ACA441366476FAT4c.1347C>A (p.Gly449=)
c.-55+1781C>A (n.-55+1781C>A)
4g.125317758C=CA1491600709FAT4c.1347C= (p.Gly449=)
c.-55+1781C= (n.-55+1781C=)
4g.125317758C>GCA441366474FAT4c.1347C>G (p.Gly449=)
c.-55+1781C>G (n.-55+1781C>G)
dbSNP gnomAD v3 gnomAD v4
4g.125317758C>TCA441366475FAT4c.1347C>T (p.Gly449=)
c.-55+1781C>T (n.-55+1781C>T)
4g.125317758_125317759insCCCCCCCCCCCCCCCCCCCCCCCCCA2570850023FAT4c.1347_1348insCCCCCCCCCCCCCCCCCCCCCCCC (p.Gly449_Ala450insProProProProProProProPro)
c.-55+1781_-55+1782insCCCCCCCCCCCCCCCCCCCCCCCC (n.-55+1781_-55+1782insCCCCCCCCCCCCCCCCCCCCCCCC)
4g.125317759G>ACA358117713FAT4c.1348G>A (p.Ala450Thr)
c.-55+1782G>A (n.-55+1782G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317759G>CCA358117714FAT4c.1348G>C (p.Ala450Pro)
c.-55+1782G>C (n.-55+1782G>C)
4g.125317759G=CA1491600712FAT4c.1348G= (p.Ala450=)
c.-55+1782G= (n.-55+1782G=)
4g.125317759G>TCA3071968FAT4c.1348G>T (p.Ala450Ser)
c.-55+1782G>T (n.-55+1782G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317760C>ACA358117715FAT4c.1349C>A (p.Ala450Glu)
c.-55+1783C>A (n.-55+1783C>A)
4g.125317760C>GCA358117716FAT4c.1349C>G (p.Ala450Gly)
c.-55+1783C>G (n.-55+1783C>G)
4g.125317760C>TCA358117717FAT4c.1349C>T (p.Ala450Val)
c.-55+1783C>T (n.-55+1783C>T)
COSMIC COSMIC
4g.125317761A=CA1491600715FAT4c.1350A= (p.Ala450=)
c.-55+1784A= (n.-55+1784A=)
4g.125317761A>CCA441366480FAT4c.1350A>C (p.Ala450=)
c.-55+1784A>C (n.-55+1784A>C)
4g.125317761A>GCA3071969FAT4c.1350A>G (p.Ala450=)
c.-55+1784A>G (n.-55+1784A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317761A>TCA441366482FAT4c.1350A>T (p.Ala450=)
c.-55+1784A>T (n.-55+1784A>T)
4g.125317762G>ACA358117718FAT4c.1351G>A (p.Ala451Thr)
c.-55+1785G>A (n.-55+1785G>A)
4g.125317762G>CCA358117719FAT4c.1351G>C (p.Ala451Pro)
c.-55+1785G>C (n.-55+1785G>C)
4g.125317762G>TCA358117720FAT4c.1351G>T (p.Ala451Ser)
c.-55+1785G>T (n.-55+1785G>T)
4g.125317763C>ACA358117721FAT4c.1352C>A (p.Ala451Glu)
c.-55+1786C>A (n.-55+1786C>A)
4g.125317763C=CA1491600718FAT4c.1352C= (p.Ala451=)
c.-55+1786C= (n.-55+1786C=)
4g.125317763C>GCA358117722FAT4c.1352C>G (p.Ala451Gly)
c.-55+1786C>G (n.-55+1786C>G)
4g.125317763C>TCA358117723FAT4c.1352C>T (p.Ala451Val)
c.-55+1786C>T (n.-55+1786C>T)
dbSNP gnomAD v2
4g.125317764A=CA1491600721FAT4c.1353A= (p.Ala451=)
c.-55+1787A= (n.-55+1787A=)
4g.125317764A>CCA3071970FAT4c.1353A>C (p.Ala451=)
c.-55+1787A>C (n.-55+1787A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317764A>GCA441366489FAT4c.1353A>G (p.Ala451=)
c.-55+1787A>G (n.-55+1787A>G)
4g.125317764A>TCA441366490FAT4c.1353A>T (p.Ala451=)
c.-55+1787A>T (n.-55+1787A>T)
4g.125317765G>ACA358117725FAT4c.1354G>A (p.Val452Ile)
c.-55+1788G>A (n.-55+1788G>A)
4g.125317765G>CCA358117724FAT4c.1354G>C (p.Val452Leu)
c.-55+1788G>C (n.-55+1788G>C)
4g.125317765G>TCA358117726FAT4c.1354G>T (p.Val452Phe)
c.-55+1788G>T (n.-55+1788G>T)
gnomAD v4
4g.125317766T>ACA358117727FAT4c.1355T>A (p.Val452Asp)
c.-55+1789T>A (n.-55+1789T>A)
4g.125317766T>CCA358117729FAT4c.1355T>C (p.Val452Ala)
c.-55+1789T>C (n.-55+1789T>C)
4g.125317766T>GCA358117728FAT4c.1355T>G (p.Val452Gly)
c.-55+1789T>G (n.-55+1789T>G)
4g.125317767C>ACA441366494FAT4c.1356C>A (p.Val452=)
c.-55+1790C>A (n.-55+1790C>A)
dbSNP
4g.125317767C=CA1491600723FAT4c.1356C= (p.Val452=)
c.-55+1790C= (n.-55+1790C=)
4g.125317767C>GCA441366495FAT4c.1356C>G (p.Val452=)
c.-55+1790C>G (n.-55+1790C>G)
4g.125317767C>TCA441366496FAT4c.1356C>T (p.Val452=)
c.-55+1790C>T (n.-55+1790C>T)
4g.125317768C>ACA358117730FAT4c.1357C>A (p.Gln453Lys)
c.-55+1791C>A (n.-55+1791C>A)
4g.125317768C>GCA358117732FAT4c.1357C>G (p.Gln453Glu)
c.-55+1791C>G (n.-55+1791C>G)
4g.125317768C>TCA358117731FAT4c.1357C>T (p.Gln453Ter)
c.-55+1791C>T (n.-55+1791C>T)
4g.125317769A=CA1491600729FAT4c.1358A= (p.Gln453=)
c.-55+1792A= (n.-55+1792A=)
4g.125317769A>CCA3071972FAT4c.1358A>C (p.Gln453Pro)
c.-55+1792A>C (n.-55+1792A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317769A>GCA3071973FAT4c.1358A>G (p.Gln453Arg)
c.-55+1792A>G (n.-55+1792A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317769A>TCA3071971FAT4c.1358A>T (p.Gln453Leu)
c.-55+1792A>T (n.-55+1792A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317770G>ACA441366504FAT4c.1359G>A (p.Gln453=)
c.-55+1793G>A (n.-55+1793G>A)
dbSNP
4g.125317770G>CCA358117733FAT4c.1359G>C (p.Gln453His)
c.-55+1793G>C (n.-55+1793G>C)
4g.125317770G>TCA358117734FAT4c.1359G>T (p.Gln453His)
c.-55+1793G>T (n.-55+1793G>T)
4g.125317771G>ACA358117735FAT4c.1360G>A (p.Ala454Thr)
c.-55+1794G>A (n.-55+1794G>A)
dbSNP
4g.125317771G>CCA358117736FAT4c.1360G>C (p.Ala454Pro)
c.-55+1794G>C (n.-55+1794G>C)
4g.125317771G>TCA358117737FAT4c.1360G>T (p.Ala454Ser)
c.-55+1794G>T (n.-55+1794G>T)
4g.125317772C>ACA358117738FAT4c.1361C>A (p.Ala454Glu)
c.-55+1795C>A (n.-55+1795C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317772C=CA1491600737FAT4c.1361C= (p.Ala454=)
c.-55+1795C= (n.-55+1795C=)
4g.125317772C>GCA358117739FAT4c.1361C>G (p.Ala454Gly)
c.-55+1795C>G (n.-55+1795C>G)
4g.125317772C>TCA358117740FAT4c.1361C>T (p.Ala454Val)
c.-55+1795C>T (n.-55+1795C>T)
gnomAD v4
4g.125317773G>ACA441366510FAT4c.1362G>A (p.Ala454=)
c.-55+1796G>A (n.-55+1796G>A)
dbSNP gnomAD v4
4g.125317773G>CCA441366511FAT4c.1362G>C (p.Ala454=)
c.-55+1796G>C (n.-55+1796G>C)
4g.125317773G=CA1491600741FAT4c.1362G= (p.Ala454=)
c.-55+1796G= (n.-55+1796G=)
4g.125317773G>TCA441366513FAT4c.1362G>T (p.Ala454=)
c.-55+1796G>T (n.-55+1796G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317774C>ACA358117743FAT4c.1363C>A (p.Arg455Ser)
c.-55+1797C>A (n.-55+1797C>A)
gnomAD v4
4g.125317774C=CA1491600743FAT4c.1363C= (p.Arg455=)
c.-55+1797C= (n.-55+1797C=)
4g.125317774C>GCA358117741FAT4c.1363C>G (p.Arg455Gly)
c.-55+1797C>G (n.-55+1797C>G)
4g.125317774C>TCA358117742FAT4c.1363C>T (p.Arg455Cys)
c.-55+1797C>T (n.-55+1797C>T)
dbSNP gnomAD v2 gnomAD v4
4g.125317775G>ACA358117744FAT4c.1364G>A (p.Arg455His)
c.-55+1798G>A (n.-55+1798G>A)
dbSNP gnomAD v2 gnomAD v4
4g.125317775G>CCA358117745FAT4c.1364G>C (p.Arg455Pro)
c.-55+1798G>C (n.-55+1798G>C)
4g.125317775G=CA1491600747FAT4c.1364G= (p.Arg455=)
c.-55+1798G= (n.-55+1798G=)
4g.125317775G>TCA358117746FAT4c.1364G>T (p.Arg455Leu)
c.-55+1798G>T (n.-55+1798G>T)
dbSNP gnomAD v4

Number of alleles fetched