Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97515839T>ACA341378387DPYDc.1627A>T (p.Ile543Leu)
c.1524+33721A>T (n.1524+33721A>T)
c.1516A>T (p.Ile506Leu)
c.1132A>T (p.Ile378Leu)
dbSNP
1g.97515839T>CCA200992DPYDc.1627A>G (p.Ile543Val)
c.1524+33721A>G (n.1524+33721A>G)
c.1516A>G (p.Ile506Val)
c.1132A>G (p.Ile378Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515839T>GCA341378388DPYDc.1627A>C (p.Ile543Leu)
c.1524+33721A>C (n.1524+33721A>C)
c.1516A>C (p.Ile506Leu)
c.1132A>C (p.Ile378Leu)
dbSNP
1g.97515839T=CA1139894835DPYDc.1627A= (p.Ile543=)
c.1524+33721A= (n.1524+33721A=)
c.1516A= (p.Ile506=)
c.1132A= (p.Ile378=)
1g.97515840A>CCA341378389DPYDc.1626T>G (p.Phe542Leu)
c.1524+33720T>G (n.1524+33720T>G)
c.1515T>G (p.Phe505Leu)
c.1131T>G (p.Phe377Leu)
gnomAD v4
1g.97515840A>GCA419142774DPYDc.1626T>C (p.Phe542=)
c.1524+33720T>C (n.1524+33720T>C)
c.1515T>C (p.Phe505=)
c.1131T>C (p.Phe377=)
dbSNP gnomAD v4
1g.97515840A>TCA341378390DPYDc.1626T>A (p.Phe542Leu)
c.1524+33720T>A (n.1524+33720T>A)
c.1515T>A (p.Phe505Leu)
c.1131T>A (p.Phe377Leu)
dbSNP
1g.97515841A>CCA341378391DPYDc.1625T>G (p.Phe542Cys)
c.1524+33719T>G (n.1524+33719T>G)
c.1514T>G (p.Phe505Cys)
c.1130T>G (p.Phe377Cys)
1g.97515841A>GCA341378392DPYDc.1625T>C (p.Phe542Ser)
c.1524+33719T>C (n.1524+33719T>C)
c.1514T>C (p.Phe505Ser)
c.1130T>C (p.Phe377Ser)
gnomAD v4
1g.97515841A>TCA341378393DPYDc.1625T>A (p.Phe542Tyr)
c.1524+33719T>A (n.1524+33719T>A)
c.1514T>A (p.Phe505Tyr)
c.1130T>A (p.Phe377Tyr)
1g.97515842A>CCA341378396DPYDc.1624T>G (p.Phe542Val)
c.1524+33718T>G (n.1524+33718T>G)
c.1513T>G (p.Phe505Val)
c.1129T>G (p.Phe377Val)
1g.97515842A>GCA341378395DPYDc.1624T>C (p.Phe542Leu)
c.1524+33718T>C (n.1524+33718T>C)
c.1513T>C (p.Phe505Leu)
c.1129T>C (p.Phe377Leu)
1g.97515842A>TCA341378394DPYDc.1624T>A (p.Phe542Ile)
c.1524+33718T>A (n.1524+33718T>A)
c.1513T>A (p.Phe505Ile)
c.1129T>A (p.Phe377Ile)
dbSNP
1g.97515843C>ACA341378397DPYDc.1623G>T (p.Lys541Asn)
c.1524+33717G>T (n.1524+33717G>T)
c.1512G>T (p.Lys504Asn)
c.1128G>T (p.Lys376Asn)
1g.97515843C>GCA341378398DPYDc.1623G>C (p.Lys541Asn)
c.1524+33717G>C (n.1524+33717G>C)
c.1512G>C (p.Lys504Asn)
c.1128G>C (p.Lys376Asn)
dbSNP
1g.97515843C>TCA419142790DPYDc.1623G>A (p.Lys541=)
c.1524+33717G>A (n.1524+33717G>A)
c.1512G>A (p.Lys504=)
c.1128G>A (p.Lys376=)
1g.97515844T>ACA341378399DPYDc.1622A>T (p.Lys541Met)
c.1524+33716A>T (n.1524+33716A>T)
c.1511A>T (p.Lys504Met)
c.1127A>T (p.Lys376Met)
dbSNP
1g.97515844T>CCA341378400DPYDc.1622A>G (p.Lys541Arg)
c.1524+33716A>G (n.1524+33716A>G)
c.1511A>G (p.Lys504Arg)
c.1127A>G (p.Lys376Arg)
1g.97515844T>GCA341378401DPYDc.1622A>C (p.Lys541Thr)
c.1524+33716A>C (n.1524+33716A>C)
c.1511A>C (p.Lys504Thr)
c.1127A>C (p.Lys376Thr)
1g.97515845T>ACA341378402DPYDc.1621A>T (p.Lys541Ter)
c.1524+33715A>T (n.1524+33715A>T)
c.1510A>T (p.Lys504Ter)
c.1126A>T (p.Lys376Ter)
dbSNP
1g.97515845T>CCA341378403DPYDc.1621A>G (p.Lys541Glu)
c.1524+33715A>G (n.1524+33715A>G)
c.1510A>G (p.Lys504Glu)
c.1126A>G (p.Lys376Glu)
dbSNP
1g.97515845T>GCA341378404DPYDc.1621A>C (p.Lys541Gln)
c.1524+33715A>C (n.1524+33715A>C)
c.1510A>C (p.Lys504Gln)
c.1126A>C (p.Lys376Gln)
1g.97515846C>ACA341378406DPYDc.1620G>T (p.Leu540Phe)
c.1524+33714G>T (n.1524+33714G>T)
c.1509G>T (p.Leu503Phe)
c.1125G>T (p.Leu375Phe)
dbSNP
1g.97515846C>GCA341378405DPYDc.1620G>C (p.Leu540Phe)
c.1524+33714G>C (n.1524+33714G>C)
c.1509G>C (p.Leu503Phe)
c.1125G>C (p.Leu375Phe)
dbSNP COSMIC
1g.97515846C>TCA419142802DPYDc.1620G>A (p.Leu540=)
c.1524+33714G>A (n.1524+33714G>A)
c.1509G>A (p.Leu503=)
c.1125G>A (p.Leu375=)
1g.97515847A>CCA341378407DPYDc.1619T>G (p.Leu540Trp)
c.1524+33713T>G (n.1524+33713T>G)
c.1508T>G (p.Leu503Trp)
c.1124T>G (p.Leu375Trp)
1g.97515847A>GCA341378408DPYDc.1619T>C (p.Leu540Ser)
c.1524+33713T>C (n.1524+33713T>C)
c.1508T>C (p.Leu503Ser)
c.1124T>C (p.Leu375Ser)
COSMIC
1g.97515847A>TCA341378409DPYDc.1619T>A (p.Leu540Ter)
c.1524+33713T>A (n.1524+33713T>A)
c.1508T>A (p.Leu503Ter)
c.1124T>A (p.Leu375Ter)
1g.97515848A=CA1182902292DPYDc.1618T= (p.Leu540=)
c.1524+33712T= (n.1524+33712T=)
c.1507T= (p.Leu503=)
c.1123T= (p.Leu375=)
1g.97515848A>CCA341378410DPYDc.1618T>G (p.Leu540Val)
c.1524+33712T>G (n.1524+33712T>G)
c.1507T>G (p.Leu503Val)
c.1123T>G (p.Leu375Val)
1g.97515848A>GCA419142810DPYDc.1618T>C (p.Leu540=)
c.1524+33712T>C (n.1524+33712T>C)
c.1507T>C (p.Leu503=)
c.1123T>C (p.Leu375=)
dbSNP gnomAD v3 gnomAD v4
1g.97515848A>TCA963289DPYDc.1618T>A (p.Leu540Met)
c.1524+33712T>A (n.1524+33712T>A)
c.1507T>A (p.Leu503Met)
c.1123T>A (p.Leu375Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515849T>ACA419142814DPYDc.1617A>T (p.Gly539=)
c.1524+33711A>T (n.1524+33711A>T)
c.1506A>T (p.Gly502=)
c.1122A>T (p.Gly374=)
dbSNP
1g.97515849T>CCA963290DPYDc.1617A>G (p.Gly539=)
c.1524+33711A>G (n.1524+33711A>G)
c.1506A>G (p.Gly502=)
c.1122A>G (p.Gly374=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515849T>GCA419142817DPYDc.1617A>C (p.Gly539=)
c.1524+33711A>C (n.1524+33711A>C)
c.1506A>C (p.Gly502=)
c.1122A>C (p.Gly374=)
1g.97515849T=CA1182902293DPYDc.1617A= (p.Gly539=)
c.1524+33711A= (n.1524+33711A=)
c.1506A= (p.Gly502=)
c.1122A= (p.Gly374=)
1g.97515850C>ACA341378411DPYDc.1616G>T (p.Gly539Val)
c.1524+33710G>T (n.1524+33710G>T)
c.1505G>T (p.Gly502Val)
c.1121G>T (p.Gly374Val)
dbSNP
1g.97515850C>GCA341378413DPYDc.1616G>C (p.Gly539Ala)
c.1524+33710G>C (n.1524+33710G>C)
c.1505G>C (p.Gly502Ala)
c.1121G>C (p.Gly374Ala)
dbSNP
1g.97515850C>TCA341378412DPYDc.1616G>A (p.Gly539Glu)
c.1524+33710G>A (n.1524+33710G>A)
c.1505G>A (p.Gly502Glu)
c.1121G>A (p.Gly374Glu)
dbSNP
1g.97515851C>ACA341378414DPYDc.1615G>T (p.Gly539Ter)
c.1524+33709G>T (n.1524+33709G>T)
c.1504G>T (p.Gly502Ter)
c.1120G>T (p.Gly374Ter)
dbSNP
1g.97515851C=CA1141878698DPYDc.1615G= (p.Gly539=)
c.1524+33709G= (n.1524+33709G=)
c.1504G= (p.Gly502=)
c.1120G= (p.Gly374=)
1g.97515851C>GCA963291DPYDc.1615G>C (p.Gly539Arg)
c.1524+33709G>C (n.1524+33709G>C)
c.1504G>C (p.Gly502Arg)
c.1120G>C (p.Gly374Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515851C>TCA228121DPYDc.1615G>A (p.Gly539Arg)
c.1524+33709G>A (n.1524+33709G>A)
c.1504G>A (p.Gly502Arg)
c.1120G>A (p.Gly374Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515852G>ACA963292DPYDc.1614C>T (p.Ala538=)
c.1524+33708C>T (n.1524+33708C>T)
c.1503C>T (p.Ala501=)
c.1119C>T (p.Ala373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515852G>CCA419142832DPYDc.1614C>G (p.Ala538=)
c.1524+33708C>G (n.1524+33708C>G)
c.1503C>G (p.Ala501=)
c.1119C>G (p.Ala373=)
dbSNP
1g.97515852G=CA1182902294DPYDc.1614C= (p.Ala538=)
c.1524+33708C= (n.1524+33708C=)
c.1503C= (p.Ala501=)
c.1119C= (p.Ala373=)
1g.97515852G>TCA419142834DPYDc.1614C>A (p.Ala538=)
c.1524+33708C>A (n.1524+33708C>A)
c.1503C>A (p.Ala501=)
c.1119C>A (p.Ala373=)
dbSNP gnomAD v4
1g.97515853G>ACA341378415DPYDc.1613C>T (p.Ala538Val)
c.1524+33707C>T (n.1524+33707C>T)
c.1502C>T (p.Ala501Val)
c.1118C>T (p.Ala373Val)
dbSNP
1g.97515853G>CCA341378416DPYDc.1613C>G (p.Ala538Gly)
c.1524+33707C>G (n.1524+33707C>G)
c.1502C>G (p.Ala501Gly)
c.1118C>G (p.Ala373Gly)
dbSNP gnomAD v3 gnomAD v4
1g.97515853G=CA1182902295DPYDc.1613C= (p.Ala538=)
c.1524+33707C= (n.1524+33707C=)
c.1502C= (p.Ala501=)
c.1118C= (p.Ala373=)
1g.97515853G>TCA341378417DPYDc.1613C>A (p.Ala538Asp)
c.1524+33707C>A (n.1524+33707C>A)
c.1502C>A (p.Ala501Asp)
c.1118C>A (p.Ala373Asp)
dbSNP
1g.97515854C>ACA341378418DPYDc.1612G>T (p.Ala538Ser)
c.1524+33706G>T (n.1524+33706G>T)
c.1501G>T (p.Ala501Ser)
c.1117G>T (p.Ala373Ser)
dbSNP gnomAD v2 gnomAD v4
1g.97515854C=CA1182902296DPYDc.1612G= (p.Ala538=)
c.1524+33706G= (n.1524+33706G=)
c.1501G= (p.Ala501=)
c.1117G= (p.Ala373=)
1g.97515854C>GCA341378419DPYDc.1612G>C (p.Ala538Pro)
c.1524+33706G>C (n.1524+33706G>C)
c.1501G>C (p.Ala501Pro)
c.1117G>C (p.Ala373Pro)
dbSNP
1g.97515854C>TCA341378420DPYDc.1612G>A (p.Ala538Thr)
c.1524+33706G>A (n.1524+33706G>A)
c.1501G>A (p.Ala501Thr)
c.1117G>A (p.Ala373Thr)
dbSNP gnomAD v4
1g.97515855C>ACA341378423DPYDc.1611G>T (p.Met537Ile)
c.1524+33705G>T (n.1524+33705G>T)
c.1500G>T (p.Met500Ile)
c.1116G>T (p.Met372Ile)
dbSNP
1g.97515855C>GCA341378422DPYDc.1611G>C (p.Met537Ile)
c.1524+33705G>C (n.1524+33705G>C)
c.1500G>C (p.Met500Ile)
c.1116G>C (p.Met372Ile)
dbSNP
1g.97515855C>TCA341378421DPYDc.1611G>A (p.Met537Ile)
c.1524+33705G>A (n.1524+33705G>A)
c.1500G>A (p.Met500Ile)
c.1116G>A (p.Met372Ile)
dbSNP
1g.97515856A>CCA341378424DPYDc.1610T>G (p.Met537Arg)
c.1524+33704T>G (n.1524+33704T>G)
c.1499T>G (p.Met500Arg)
c.1115T>G (p.Met372Arg)
dbSNP
1g.97515856A>GCA341378425DPYDc.1610T>C (p.Met537Thr)
c.1524+33704T>C (n.1524+33704T>C)
c.1499T>C (p.Met500Thr)
c.1115T>C (p.Met372Thr)
gnomAD v4
1g.97515856A>TCA341378426DPYDc.1610T>A (p.Met537Lys)
c.1524+33704T>A (n.1524+33704T>A)
c.1499T>A (p.Met500Lys)
c.1115T>A (p.Met372Lys)
dbSNP
1g.97515857T>ACA341378427DPYDc.1609A>T (p.Met537Leu)
c.1524+33703A>T (n.1524+33703A>T)
c.1498A>T (p.Met500Leu)
c.1114A>T (p.Met372Leu)
1g.97515857T>CCA341378428DPYDc.1609A>G (p.Met537Val)
c.1524+33703A>G (n.1524+33703A>G)
c.1498A>G (p.Met500Val)
c.1114A>G (p.Met372Val)
gnomAD v4
1g.97515857T>GCA341378429DPYDc.1609A>C (p.Met537Leu)
c.1524+33703A>C (n.1524+33703A>C)
c.1498A>C (p.Met500Leu)
c.1114A>C (p.Met372Leu)
dbSNP gnomAD v4
1g.97515857T=CA1182902297DPYDc.1609A= (p.Met537=)
c.1524+33703A= (n.1524+33703A=)
c.1498A= (p.Met500=)
c.1114A= (p.Met372=)
1g.97515858T>ACA341378430DPYDc.1608A>T (p.Glu536Asp)
c.1524+33702A>T (n.1524+33702A>T)
c.1497A>T (p.Glu499Asp)
c.1113A>T (p.Glu371Asp)
1g.97515858T>CCA419142860DPYDc.1608A>G (p.Glu536=)
c.1524+33702A>G (n.1524+33702A>G)
c.1497A>G (p.Glu499=)
c.1113A>G (p.Glu371=)
1g.97515858T>GCA963293DPYDc.1608A>C (p.Glu536Asp)
c.1524+33702A>C (n.1524+33702A>C)
c.1497A>C (p.Glu499Asp)
c.1113A>C (p.Glu371Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515858T=CA1182902298DPYDc.1608A= (p.Glu536=)
c.1524+33702A= (n.1524+33702A=)
c.1497A= (p.Glu499=)
c.1113A= (p.Glu371=)
1g.97515859T>ACA341378431DPYDc.1607A>T (p.Glu536Val)
c.1524+33701A>T (n.1524+33701A>T)
c.1496A>T (p.Glu499Val)
c.1112A>T (p.Glu371Val)
1g.97515859T>CCA341378432DPYDc.1607A>G (p.Glu536Gly)
c.1524+33701A>G (n.1524+33701A>G)
c.1496A>G (p.Glu499Gly)
c.1112A>G (p.Glu371Gly)
1g.97515859T>GCA341378433DPYDc.1607A>C (p.Glu536Ala)
c.1524+33701A>C (n.1524+33701A>C)
c.1496A>C (p.Glu499Ala)
c.1112A>C (p.Glu371Ala)
1g.97515860C>ACA341378434DPYDc.1606G>T (p.Glu536Ter)
c.1524+33700G>T (n.1524+33700G>T)
c.1495G>T (p.Glu499Ter)
c.1111G>T (p.Glu371Ter)
dbSNP
1g.97515860C>GCA341378435DPYDc.1606G>C (p.Glu536Gln)
c.1524+33700G>C (n.1524+33700G>C)
c.1495G>C (p.Glu499Gln)
c.1111G>C (p.Glu371Gln)
dbSNP
1g.97515860C>TCA341378436DPYDc.1606G>A (p.Glu536Lys)
c.1524+33700G>A (n.1524+33700G>A)
c.1495G>A (p.Glu499Lys)
c.1111G>A (p.Glu371Lys)
1g.97515861T>ACA419142874DPYDc.1605A>T (p.Val535=)
c.1524+33699A>T (n.1524+33699A>T)
c.1494A>T (p.Val498=)
c.1110A>T (p.Val370=)
1g.97515861T>CCA419142878DPYDc.1605A>G (p.Val535=)
c.1524+33699A>G (n.1524+33699A>G)
c.1494A>G (p.Val498=)
c.1110A>G (p.Val370=)
dbSNP
1g.97515861T>GCA419142876DPYDc.1605A>C (p.Val535=)
c.1524+33699A>C (n.1524+33699A>C)
c.1494A>C (p.Val498=)
c.1110A>C (p.Val370=)
dbSNP gnomAD v2 gnomAD v4
1g.97515861T=CA1182902299DPYDc.1605A= (p.Val535=)
c.1524+33699A= (n.1524+33699A=)
c.1494A= (p.Val498=)
c.1110A= (p.Val370=)
1g.97515862A>CCA341378437DPYDc.1604T>G (p.Val535Gly)
c.1524+33698T>G (n.1524+33698T>G)
c.1493T>G (p.Val498Gly)
c.1109T>G (p.Val370Gly)
dbSNP
1g.97515862A>GCA341378439DPYDc.1604T>C (p.Val535Ala)
c.1524+33698T>C (n.1524+33698T>C)
c.1493T>C (p.Val498Ala)
c.1109T>C (p.Val370Ala)
1g.97515862A>TCA341378438DPYDc.1604T>A (p.Val535Glu)
c.1524+33698T>A (n.1524+33698T>A)
c.1493T>A (p.Val498Glu)
c.1109T>A (p.Val370Glu)
1g.97515863C>ACA341378440DPYDc.1603G>T (p.Val535Leu)
c.1524+33697G>T (n.1524+33697G>T)
c.1492G>T (p.Val498Leu)
c.1108G>T (p.Val370Leu)
gnomAD v4
1g.97515863C=CA1182902300DPYDc.1603G= (p.Val535=)
c.1524+33697G= (n.1524+33697G=)
c.1492G= (p.Val498=)
c.1108G= (p.Val370=)
1g.97515863C>GCA341378441DPYDc.1603G>C (p.Val535Leu)
c.1524+33697G>C (n.1524+33697G>C)
c.1492G>C (p.Val498Leu)
c.1108G>C (p.Val370Leu)
dbSNP gnomAD v3 gnomAD v4
1g.97515863C>TCA341378442DPYDc.1603G>A (p.Val535Ile)
c.1524+33697G>A (n.1524+33697G>A)
c.1492G>A (p.Val498Ile)
c.1108G>A (p.Val370Ile)
dbSNP gnomAD v4
1g.97515864A=CA1182902301DPYDc.1602T= (p.Ser534=)
c.1524+33696T= (n.1524+33696T=)
c.1491T= (p.Ser497=)
c.1107T= (p.Ser369=)
1g.97515864A>CCA341378443DPYDc.1602T>G (p.Ser534Arg)
c.1524+33696T>G (n.1524+33696T>G)
c.1491T>G (p.Ser497Arg)
c.1107T>G (p.Ser369Arg)
1g.97515864A>GCA419142888DPYDc.1602T>C (p.Ser534=)
c.1524+33696T>C (n.1524+33696T>C)
c.1491T>C (p.Ser497=)
c.1107T>C (p.Ser369=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97515864A>TCA341378444DPYDc.1602T>A (p.Ser534Arg)
c.1524+33696T>A (n.1524+33696T>A)
c.1491T>A (p.Ser497Arg)
c.1107T>A (p.Ser369Arg)
1g.97515865C>ACA341378445DPYDc.1601G>T (p.Ser534Ile)
c.1524+33695G>T (n.1524+33695G>T)
c.1490G>T (p.Ser497Ile)
c.1106G>T (p.Ser369Ile)
dbSNP
1g.97515865C=CA1139894833DPYDc.1601G= (p.Ser534=)
c.1524+33695G= (n.1524+33695G=)
c.1490G= (p.Ser497=)
c.1106G= (p.Ser369=)
1g.97515865C>GCA341378449DPYDc.1601G>C (p.Ser534Thr)
c.1524+33695G>C (n.1524+33695G>C)
c.1490G>C (p.Ser497Thr)
c.1106G>C (p.Ser369Thr)
dbSNP
1g.97515865C>TCA228124DPYDc.1601G>A (p.Ser534Asn)
c.1524+33695G>A (n.1524+33695G>A)
c.1490G>A (p.Ser497Asn)
c.1106G>A (p.Ser369Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515866T>ACA341378451DPYDc.1600A>T (p.Ser534Cys)
c.1524+33694A>T (n.1524+33694A>T)
c.1489A>T (p.Ser497Cys)
c.1105A>T (p.Ser369Cys)
dbSNP
1g.97515866T>CCA341378453DPYDc.1600A>G (p.Ser534Gly)
c.1524+33694A>G (n.1524+33694A>G)
c.1489A>G (p.Ser497Gly)
c.1105A>G (p.Ser369Gly)
1g.97515866T>GCA341378454DPYDc.1600A>C (p.Ser534Arg)
c.1524+33694A>C (n.1524+33694A>C)
c.1489A>C (p.Ser497Arg)
c.1105A>C (p.Ser369Arg)
1g.97515867A>CCA341378456DPYDc.1599T>G (p.Ile533Met)
c.1524+33693T>G (n.1524+33693T>G)
c.1488T>G (p.Ile496Met)
c.1104T>G (p.Ile368Met)
1g.97515867A>GCA419142894DPYDc.1599T>C (p.Ile533=)
c.1524+33693T>C (n.1524+33693T>C)
c.1488T>C (p.Ile496=)
c.1104T>C (p.Ile368=)
1g.97515867A>TCA419142896DPYDc.1599T>A (p.Ile533=)
c.1524+33693T>A (n.1524+33693T>A)
c.1488T>A (p.Ile496=)
c.1104T>A (p.Ile368=)
gnomAD v4
1g.97515868A>CCA341378460DPYDc.1598T>G (p.Ile533Ser)
c.1524+33692T>G (n.1524+33692T>G)
c.1487T>G (p.Ile496Ser)
c.1103T>G (p.Ile368Ser)
1g.97515868A>GCA341378458DPYDc.1598T>C (p.Ile533Thr)
c.1524+33692T>C (n.1524+33692T>C)
c.1487T>C (p.Ile496Thr)
c.1103T>C (p.Ile368Thr)
gnomAD v4
1g.97515868A>TCA341378469DPYDc.1598T>A (p.Ile533Asn)
c.1524+33692T>A (n.1524+33692T>A)
c.1487T>A (p.Ile496Asn)
c.1103T>A (p.Ile368Asn)
1g.97515869T>ACA341378470DPYDc.1597A>T (p.Ile533Phe)
c.1524+33691A>T (n.1524+33691A>T)
c.1486A>T (p.Ile496Phe)
c.1102A>T (p.Ile368Phe)
1g.97515869T>CCA341378472DPYDc.1597A>G (p.Ile533Val)
c.1524+33691A>G (n.1524+33691A>G)
c.1486A>G (p.Ile496Val)
c.1102A>G (p.Ile368Val)
gnomAD v4
1g.97515869T>GCA341378471DPYDc.1597A>C (p.Ile533Leu)
c.1524+33691A>C (n.1524+33691A>C)
c.1486A>C (p.Ile496Leu)
c.1102A>C (p.Ile368Leu)
1g.97515870G>ACA419142909DPYDc.1596C>T (p.Asp532=)
c.1524+33690C>T (n.1524+33690C>T)
c.1485C>T (p.Asp495=)
c.1101C>T (p.Asp367=)
1g.97515870G>CCA341378473DPYDc.1596C>G (p.Asp532Glu)
c.1524+33690C>G (n.1524+33690C>G)
c.1485C>G (p.Asp495Glu)
c.1101C>G (p.Asp367Glu)
dbSNP
1g.97515870G>TCA341378474DPYDc.1596C>A (p.Asp532Glu)
c.1524+33690C>A (n.1524+33690C>A)
c.1485C>A (p.Asp495Glu)
c.1101C>A (p.Asp367Glu)
1g.97515871T>ACA341378478DPYDc.1595A>T (p.Asp532Val)
c.1524+33689A>T (n.1524+33689A>T)
c.1484A>T (p.Asp495Val)
c.1100A>T (p.Asp367Val)
1g.97515871T>CCA341378479DPYDc.1595A>G (p.Asp532Gly)
c.1524+33689A>G (n.1524+33689A>G)
c.1484A>G (p.Asp495Gly)
c.1100A>G (p.Asp367Gly)
gnomAD v4
1g.97515871T>GCA341378482DPYDc.1595A>C (p.Asp532Ala)
c.1524+33689A>C (n.1524+33689A>C)
c.1484A>C (p.Asp495Ala)
c.1100A>C (p.Asp367Ala)
1g.97515872C>ACA341378484DPYDc.1594G>T (p.Asp532Tyr)
c.1524+33688G>T (n.1524+33688G>T)
c.1483G>T (p.Asp495Tyr)
c.1099G>T (p.Asp367Tyr)
dbSNP
1g.97515872C>GCA341378486DPYDc.1594G>C (p.Asp532His)
c.1524+33688G>C (n.1524+33688G>C)
c.1483G>C (p.Asp495His)
c.1099G>C (p.Asp367His)
dbSNP
1g.97515872C>TCA341378488DPYDc.1594G>A (p.Asp532Asn)
c.1524+33688G>A (n.1524+33688G>A)
c.1483G>A (p.Asp495Asn)
c.1099G>A (p.Asp367Asn)
dbSNP
1g.97515873C>ACA419142918DPYDc.1593G>T (p.Val531=)
c.1524+33687G>T (n.1524+33687G>T)
c.1482G>T (p.Val494=)
c.1098G>T (p.Val366=)
dbSNP
1g.97515873C>GCA419142919DPYDc.1593G>C (p.Val531=)
c.1524+33687G>C (n.1524+33687G>C)
c.1482G>C (p.Val494=)
c.1098G>C (p.Val366=)
1g.97515873C>TCA419142921DPYDc.1593G>A (p.Val531=)
c.1524+33687G>A (n.1524+33687G>A)
c.1482G>A (p.Val494=)
c.1098G>A (p.Val366=)
gnomAD v4
1g.97515874A>CCA341378490DPYDc.1592T>G (p.Val531Gly)
c.1524+33686T>G (n.1524+33686T>G)
c.1481T>G (p.Val494Gly)
c.1097T>G (p.Val366Gly)
1g.97515874A>GCA341378491DPYDc.1592T>C (p.Val531Ala)
c.1524+33686T>C (n.1524+33686T>C)
c.1481T>C (p.Val494Ala)
c.1097T>C (p.Val366Ala)
1g.97515874A>TCA341378493DPYDc.1592T>A (p.Val531Glu)
c.1524+33686T>A (n.1524+33686T>A)
c.1481T>A (p.Val494Glu)
c.1097T>A (p.Val366Glu)
1g.97515875C>ACA341378498DPYDc.1591G>T (p.Val531Leu)
c.1524+33685G>T (n.1524+33685G>T)
c.1480G>T (p.Val494Leu)
c.1096G>T (p.Val366Leu)
dbSNP
1g.97515875C>GCA341378497DPYDc.1591G>C (p.Val531Leu)
c.1524+33685G>C (n.1524+33685G>C)
c.1480G>C (p.Val494Leu)
c.1096G>C (p.Val366Leu)
dbSNP gnomAD v4
1g.97515875C>TCA341378496DPYDc.1591G>A (p.Val531Met)
c.1524+33685G>A (n.1524+33685G>A)
c.1480G>A (p.Val494Met)
c.1096G>A (p.Val366Met)
1g.97515876C>ACA419142930DPYDc.1590G>T (p.Leu530=)
c.1524+33684G>T (n.1524+33684G>T)
c.1479G>T (p.Leu493=)
c.1095G>T (p.Leu365=)
dbSNP
1g.97515876C>GCA419142931DPYDc.1590G>C (p.Leu530=)
c.1524+33684G>C (n.1524+33684G>C)
c.1479G>C (p.Leu493=)
c.1095G>C (p.Leu365=)
dbSNP
1g.97515876C>TCA419142933DPYDc.1590G>A (p.Leu530=)
c.1524+33684G>A (n.1524+33684G>A)
c.1479G>A (p.Leu493=)
c.1095G>A (p.Leu365=)
gnomAD v4
1g.97515877A>CCA341378501DPYDc.1589T>G (p.Leu530Arg)
c.1524+33683T>G (n.1524+33683T>G)
c.1478T>G (p.Leu493Arg)
c.1094T>G (p.Leu365Arg)
1g.97515877A>GCA341378502DPYDc.1589T>C (p.Leu530Pro)
c.1524+33683T>C (n.1524+33683T>C)
c.1478T>C (p.Leu493Pro)
c.1094T>C (p.Leu365Pro)
1g.97515877A>TCA341378503DPYDc.1589T>A (p.Leu530Gln)
c.1524+33683T>A (n.1524+33683T>A)
c.1478T>A (p.Leu493Gln)
c.1094T>A (p.Leu365Gln)
1g.97515878G>ACA419142936DPYDc.1588C>T (p.Leu530=)
c.1524+33682C>T (n.1524+33682C>T)
c.1477C>T (p.Leu493=)
c.1093C>T (p.Leu365=)
dbSNP
1g.97515878G>CCA341378504DPYDc.1588C>G (p.Leu530Val)
c.1524+33682C>G (n.1524+33682C>G)
c.1477C>G (p.Leu493Val)
c.1093C>G (p.Leu365Val)
dbSNP
1g.97515878G>TCA341378506DPYDc.1588C>A (p.Leu530Met)
c.1524+33682C>A (n.1524+33682C>A)
c.1477C>A (p.Leu493Met)
c.1093C>A (p.Leu365Met)
1g.97515879A=CA1141722896DPYDc.1587T= (p.Asp529=)
c.1524+33681T= (n.1524+33681T=)
c.1476T= (p.Asp492=)
c.1092T= (p.Asp364=)
1g.97515879A>CCA341378508DPYDc.1587T>G (p.Asp529Glu)
c.1524+33681T>G (n.1524+33681T>G)
c.1476T>G (p.Asp492Glu)
c.1092T>G (p.Asp364Glu)
1g.97515879A>GCA963294DPYDc.1587T>C (p.Asp529=)
c.1524+33681T>C (n.1524+33681T>C)
c.1476T>C (p.Asp492=)
c.1092T>C (p.Asp364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515879A>TCA341378511DPYDc.1587T>A (p.Asp529Glu)
c.1524+33681T>A (n.1524+33681T>A)
c.1476T>A (p.Asp492Glu)
c.1092T>A (p.Asp364Glu)
1g.97515880T>ACA341378512DPYDc.1586A>T (p.Asp529Val)
c.1524+33680A>T (n.1524+33680A>T)
c.1475A>T (p.Asp492Val)
c.1091A>T (p.Asp364Val)
dbSNP
1g.97515880T>CCA341378513DPYDc.1586A>G (p.Asp529Gly)
c.1524+33680A>G (n.1524+33680A>G)
c.1475A>G (p.Asp492Gly)
c.1091A>G (p.Asp364Gly)
dbSNP
1g.97515880T>GCA341378514DPYDc.1586A>C (p.Asp529Ala)
c.1524+33680A>C (n.1524+33680A>C)
c.1475A>C (p.Asp492Ala)
c.1091A>C (p.Asp364Ala)
dbSNP
1g.97515881C>ACA341378517DPYDc.1585G>T (p.Asp529Tyr)
c.1524+33679G>T (n.1524+33679G>T)
c.1474G>T (p.Asp492Tyr)
c.1090G>T (p.Asp364Tyr)
dbSNP
1g.97515881C=CA1182902302DPYDc.1585G= (p.Asp529=)
c.1524+33679G= (n.1524+33679G=)
c.1474G= (p.Asp492=)
c.1090G= (p.Asp364=)
1g.97515881C>GCA341378516DPYDc.1585G>C (p.Asp529His)
c.1524+33679G>C (n.1524+33679G>C)
c.1474G>C (p.Asp492His)
c.1090G>C (p.Asp364His)
dbSNP gnomAD v2 gnomAD v4
1g.97515881C>TCA341378515DPYDc.1585G>A (p.Asp529Asn)
c.1524+33679G>A (n.1524+33679G>A)
c.1474G>A (p.Asp492Asn)
c.1090G>A (p.Asp364Asn)
gnomAD v4
1g.97515882A>CCA341378518DPYDc.1584T>G (p.Ile528Met)
c.1524+33678T>G (n.1524+33678T>G)
c.1473T>G (p.Ile491Met)
c.1089T>G (p.Ile363Met)
1g.97515882A>GCA419142950DPYDc.1584T>C (p.Ile528=)
c.1524+33678T>C (n.1524+33678T>C)
c.1473T>C (p.Ile491=)
c.1089T>C (p.Ile363=)
gnomAD v4
1g.97515882A>TCA419142952DPYDc.1584T>A (p.Ile528=)
c.1524+33678T>A (n.1524+33678T>A)
c.1473T>A (p.Ile491=)
c.1089T>A (p.Ile363=)
1g.97515883A=CA1182902303DPYDc.1583T= (p.Ile528=)
c.1524+33677T= (n.1524+33677T=)
c.1472T= (p.Ile491=)
c.1088T= (p.Ile363=)
1g.97515883A>CCA341378519DPYDc.1583T>G (p.Ile528Ser)
c.1524+33677T>G (n.1524+33677T>G)
c.1472T>G (p.Ile491Ser)
c.1088T>G (p.Ile363Ser)
1g.97515883A>GCA341378520DPYDc.1583T>C (p.Ile528Thr)
c.1524+33677T>C (n.1524+33677T>C)
c.1472T>C (p.Ile491Thr)
c.1088T>C (p.Ile363Thr)
1g.97515883A>TCA341378521DPYDc.1583T>A (p.Ile528Asn)
c.1524+33677T>A (n.1524+33677T>A)
c.1472T>A (p.Ile491Asn)
c.1088T>A (p.Ile363Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97515884T>ACA341378523DPYDc.1582A>T (p.Ile528Phe)
c.1524+33676A>T (n.1524+33676A>T)
c.1471A>T (p.Ile491Phe)
c.1087A>T (p.Ile363Phe)
1g.97515884T>CCA341378524DPYDc.1582A>G (p.Ile528Val)
c.1524+33676A>G (n.1524+33676A>G)
c.1471A>G (p.Ile491Val)
c.1087A>G (p.Ile363Val)
dbSNP gnomAD v2 gnomAD v4
1g.97515884T>GCA341378526DPYDc.1582A>C (p.Ile528Leu)
c.1524+33676A>C (n.1524+33676A>C)
c.1471A>C (p.Ile491Leu)
c.1087A>C (p.Ile363Leu)
1g.97515884T=CA1182902304DPYDc.1582A= (p.Ile528=)
c.1524+33676A= (n.1524+33676A=)
c.1471A= (p.Ile491=)
c.1087A= (p.Ile363=)
1g.97515885A>CCA419142960DPYDc.1581T>G (p.Pro527=)
c.1524+33675T>G (n.1524+33675T>G)
c.1470T>G (p.Pro490=)
c.1086T>G (p.Pro362=)
1g.97515885A>GCA419142962DPYDc.1581T>C (p.Pro527=)
c.1524+33675T>C (n.1524+33675T>C)
c.1470T>C (p.Pro490=)
c.1086T>C (p.Pro362=)
gnomAD v4
1g.97515885A>TCA419142964DPYDc.1581T>A (p.Pro527=)
c.1524+33675T>A (n.1524+33675T>A)
c.1470T>A (p.Pro490=)
c.1086T>A (p.Pro362=)
1g.97515886G>ACA10610865DPYDc.1580C>T (p.Pro527Leu)
c.1524+33674C>T (n.1524+33674C>T)
c.1469C>T (p.Pro490Leu)
c.1085C>T (p.Pro362Leu)
ClinVar dbSNP
1g.97515886G>CCA341378527DPYDc.1580C>G (p.Pro527Arg)
c.1524+33674C>G (n.1524+33674C>G)
c.1469C>G (p.Pro490Arg)
c.1085C>G (p.Pro362Arg)
1g.97515886G=CA1182902305DPYDc.1580C= (p.Pro527=)
c.1524+33674C= (n.1524+33674C=)
c.1469C= (p.Pro490=)
c.1085C= (p.Pro362=)
1g.97515886G>TCA341378528DPYDc.1580C>A (p.Pro527His)
c.1524+33674C>A (n.1524+33674C>A)
c.1469C>A (p.Pro490His)
c.1085C>A (p.Pro362His)
1g.97515887G>ACA341378529DPYDc.1579C>T (p.Pro527Ser)
c.1524+33673C>T (n.1524+33673C>T)
c.1468C>T (p.Pro490Ser)
c.1084C>T (p.Pro362Ser)
dbSNP gnomAD v4
1g.97515887G>CCA341378531DPYDc.1579C>G (p.Pro527Ala)
c.1524+33673C>G (n.1524+33673C>G)
c.1468C>G (p.Pro490Ala)
c.1084C>G (p.Pro362Ala)
dbSNP gnomAD v4
1g.97515887G=CA1182902306DPYDc.1579C= (p.Pro527=)
c.1524+33673C= (n.1524+33673C=)
c.1468C= (p.Pro490=)
c.1084C= (p.Pro362=)
1g.97515887G>TCA341378533DPYDc.1579C>A (p.Pro527Thr)
c.1524+33673C>A (n.1524+33673C>A)
c.1468C>A (p.Pro490Thr)
c.1084C>A (p.Pro362Thr)
1g.97515888A>CCA419142972DPYDc.1578T>G (p.Thr526=)
c.1524+33672T>G (n.1524+33672T>G)
c.1467T>G (p.Thr489=)
c.1083T>G (p.Thr361=)
1g.97515888A>GCA419142974DPYDc.1578T>C (p.Thr526=)
c.1524+33672T>C (n.1524+33672T>C)
c.1467T>C (p.Thr489=)
c.1083T>C (p.Thr361=)
1g.97515888A>TCA419142976DPYDc.1578T>A (p.Thr526=)
c.1524+33672T>A (n.1524+33672T>A)
c.1467T>A (p.Thr489=)
c.1083T>A (p.Thr361=)
1g.97515889G>ACA341378536DPYDc.1577C>T (p.Thr526Ile)
c.1524+33671C>T (n.1524+33671C>T)
c.1466C>T (p.Thr489Ile)
c.1082C>T (p.Thr361Ile)
1g.97515889G>CCA963295DPYDc.1577C>G (p.Thr526Ser)
c.1524+33671C>G (n.1524+33671C>G)
c.1466C>G (p.Thr489Ser)
c.1082C>G (p.Thr361Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515889G=CA1143181487DPYDc.1577C= (p.Thr526=)
c.1524+33671C= (n.1524+33671C=)
c.1466C= (p.Thr489=)
c.1082C= (p.Thr361=)
1g.97515889G>TCA341378534DPYDc.1577C>A (p.Thr526Asn)
c.1524+33671C>A (n.1524+33671C>A)
c.1466C>A (p.Thr489Asn)
c.1082C>A (p.Thr361Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97515890T>ACA341378538DPYDc.1576A>T (p.Thr526Ser)
c.1524+33670A>T (n.1524+33670A>T)
c.1465A>T (p.Thr489Ser)
c.1081A>T (p.Thr361Ser)
1g.97515890T>CCA341378539DPYDc.1576A>G (p.Thr526Ala)
c.1524+33670A>G (n.1524+33670A>G)
c.1465A>G (p.Thr489Ala)
c.1081A>G (p.Thr361Ala)
dbSNP gnomAD v3 gnomAD v4
1g.97515890T>GCA341378540DPYDc.1576A>C (p.Thr526Pro)
c.1524+33670A>C (n.1524+33670A>C)
c.1465A>C (p.Thr489Pro)
c.1081A>C (p.Thr361Pro)
1g.97515890T=CA1182902307DPYDc.1576A= (p.Thr526=)
c.1524+33670A= (n.1524+33670A=)
c.1465A= (p.Thr489=)
c.1081A= (p.Thr361=)
1g.97515891G>ACA963296DPYDc.1575C>T (p.Tyr525=)
c.1524+33669C>T (n.1524+33669C>T)
c.1464C>T (p.Tyr488=)
c.1080C>T (p.Tyr360=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515891G>CCA341378541DPYDc.1575C>G (p.Tyr525Ter)
c.1524+33669C>G (n.1524+33669C>G)
c.1464C>G (p.Tyr488Ter)
c.1080C>G (p.Tyr360Ter)
ClinVar
1g.97515891G=CA1182902308DPYDc.1575C= (p.Tyr525=)
c.1524+33669C= (n.1524+33669C=)
c.1464C= (p.Tyr488=)
c.1080C= (p.Tyr360=)
1g.97515891G>TCA341378542DPYDc.1575C>A (p.Tyr525Ter)
c.1524+33669C>A (n.1524+33669C>A)
c.1464C>A (p.Tyr488Ter)
c.1080C>A (p.Tyr360Ter)
1g.97515892T>ACA341378544DPYDc.1574A>T (p.Tyr525Phe)
c.1524+33668A>T (n.1524+33668A>T)
c.1463A>T (p.Tyr488Phe)
c.1079A>T (p.Tyr360Phe)
dbSNP
1g.97515892T>CCA341378546DPYDc.1574A>G (p.Tyr525Cys)
c.1524+33668A>G (n.1524+33668A>G)
c.1463A>G (p.Tyr488Cys)
c.1079A>G (p.Tyr360Cys)
COSMIC
1g.97515892T>GCA341378547DPYDc.1574A>C (p.Tyr525Ser)
c.1524+33668A>C (n.1524+33668A>C)
c.1463A>C (p.Tyr488Ser)
c.1079A>C (p.Tyr360Ser)
1g.97515893A=CA1182902309DPYDc.1573T= (p.Tyr525=)
c.1524+33667T= (n.1524+33667T=)
c.1462T= (p.Tyr488=)
c.1078T= (p.Tyr360=)
1g.97515893A>CCA341378549DPYDc.1573T>G (p.Tyr525Asp)
c.1524+33667T>G (n.1524+33667T>G)
c.1462T>G (p.Tyr488Asp)
c.1078T>G (p.Tyr360Asp)
1g.97515893A>GCA963297DPYDc.1573T>C (p.Tyr525His)
c.1524+33667T>C (n.1524+33667T>C)
c.1462T>C (p.Tyr488His)
c.1078T>C (p.Tyr360His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515893A>TCA341378552DPYDc.1573T>A (p.Tyr525Asn)
c.1524+33667T>A (n.1524+33667T>A)
c.1462T>A (p.Tyr488Asn)
c.1078T>A (p.Tyr360Asn)
1g.97515894A=CA1182902310DPYDc.1572T= (p.Phe524=)
c.1524+33666T= (n.1524+33666T=)
c.1461T= (p.Phe487=)
c.1077T= (p.Phe359=)
1g.97515894A>CCA963298DPYDc.1572T>G (p.Phe524Leu)
c.1524+33666T>G (n.1524+33666T>G)
c.1461T>G (p.Phe487Leu)
c.1077T>G (p.Phe359Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515894A>GCA419142995DPYDc.1572T>C (p.Phe524=)
c.1524+33666T>C (n.1524+33666T>C)
c.1461T>C (p.Phe487=)
c.1077T>C (p.Phe359=)
1g.97515894A>TCA341378553DPYDc.1572T>A (p.Phe524Leu)
c.1524+33666T>A (n.1524+33666T>A)
c.1461T>A (p.Phe487Leu)
c.1077T>A (p.Phe359Leu)
1g.97515895A>CCA341378556DPYDc.1571T>G (p.Phe524Cys)
c.1524+33665T>G (n.1524+33665T>G)
c.1460T>G (p.Phe487Cys)
c.1076T>G (p.Phe359Cys)
1g.97515895A>GCA341378565DPYDc.1571T>C (p.Phe524Ser)
c.1524+33665T>C (n.1524+33665T>C)
c.1460T>C (p.Phe487Ser)
c.1076T>C (p.Phe359Ser)
1g.97515895A>TCA341378561DPYDc.1571T>A (p.Phe524Tyr)
c.1524+33665T>A (n.1524+33665T>A)
c.1460T>A (p.Phe487Tyr)
c.1076T>A (p.Phe359Tyr)
1g.97515896A>CCA341378566DPYDc.1570T>G (p.Phe524Val)
c.1524+33664T>G (n.1524+33664T>G)
c.1459T>G (p.Phe487Val)
c.1075T>G (p.Phe359Val)
1g.97515896A>GCA341378568DPYDc.1570T>C (p.Phe524Leu)
c.1524+33664T>C (n.1524+33664T>C)
c.1459T>C (p.Phe487Leu)
c.1075T>C (p.Phe359Leu)
dbSNP
1g.97515896A>TCA341378570DPYDc.1570T>A (p.Phe524Ile)
c.1524+33664T>A (n.1524+33664T>A)
c.1459T>A (p.Phe487Ile)
c.1075T>A (p.Phe359Ile)
1g.97515897G>ACA419143006DPYDc.1569C>T (p.Leu523=)
c.1524+33663C>T (n.1524+33663C>T)
c.1458C>T (p.Leu486=)
c.1074C>T (p.Leu358=)
dbSNP gnomAD v4
1g.97515897G>CCA419143007DPYDc.1569C>G (p.Leu523=)
c.1524+33663C>G (n.1524+33663C>G)
c.1458C>G (p.Leu486=)
c.1074C>G (p.Leu358=)
dbSNP
1g.97515897G=CA1182902311DPYDc.1569C= (p.Leu523=)
c.1524+33663C= (n.1524+33663C=)
c.1458C= (p.Leu486=)
c.1074C= (p.Leu358=)
1g.97515897G>TCA419143009DPYDc.1569C>A (p.Leu523=)
c.1524+33663C>A (n.1524+33663C>A)
c.1458C>A (p.Leu486=)
c.1074C>A (p.Leu358=)
1g.97515898A>CCA341378573DPYDc.1568T>G (p.Leu523Arg)
c.1524+33662T>G (n.1524+33662T>G)
c.1457T>G (p.Leu486Arg)
c.1073T>G (p.Leu358Arg)
1g.97515898A>GCA341378574DPYDc.1568T>C (p.Leu523Pro)
c.1524+33662T>C (n.1524+33662T>C)
c.1457T>C (p.Leu486Pro)
c.1073T>C (p.Leu358Pro)
gnomAD v4
1g.97515898A>TCA341378576DPYDc.1568T>A (p.Leu523His)
c.1524+33662T>A (n.1524+33662T>A)
c.1457T>A (p.Leu486His)
c.1073T>A (p.Leu358His)
1g.97515899G>ACA341378577DPYDc.1567C>T (p.Leu523Phe)
c.1524+33661C>T (n.1524+33661C>T)
c.1456C>T (p.Leu486Phe)
c.1072C>T (p.Leu358Phe)
gnomAD v4
1g.97515899G>CCA341378578DPYDc.1567C>G (p.Leu523Val)
c.1524+33661C>G (n.1524+33661C>G)
c.1456C>G (p.Leu486Val)
c.1072C>G (p.Leu358Val)
1g.97515899G=CA1182902312DPYDc.1567C= (p.Leu523=)
c.1524+33661C= (n.1524+33661C=)
c.1456C= (p.Leu486=)
c.1072C= (p.Leu358=)
1g.97515899G>TCA341378579DPYDc.1567C>A (p.Leu523Ile)
c.1524+33661C>A (n.1524+33661C>A)
c.1456C>A (p.Leu486Ile)
c.1072C>A (p.Leu358Ile)
dbSNP gnomAD v4
1g.97515900G>ACA419143018DPYDc.1566C>T (p.Pro522=)
c.1524+33660C>T (n.1524+33660C>T)
c.1455C>T (p.Pro485=)
c.1071C>T (p.Pro357=)
1g.97515900G>CCA419143019DPYDc.1566C>G (p.Pro522=)
c.1524+33660C>G (n.1524+33660C>G)
c.1455C>G (p.Pro485=)
c.1071C>G (p.Pro357=)
gnomAD v4
1g.97515900G=CA1182902313DPYDc.1566C= (p.Pro522=)
c.1524+33660C= (n.1524+33660C=)
c.1455C= (p.Pro485=)
c.1071C= (p.Pro357=)
1g.97515900G>TCA419143021DPYDc.1566C>A (p.Pro522=)
c.1524+33660C>A (n.1524+33660C>A)
c.1455C>A (p.Pro485=)
c.1071C>A (p.Pro357=)
1g.97515901G>ACA341378580DPYDc.1565C>T (p.Pro522Leu)
c.1524+33659C>T (n.1524+33659C>T)
c.1454C>T (p.Pro485Leu)
c.1070C>T (p.Pro357Leu)
1g.97515901G>CCA341378582DPYDc.1565C>G (p.Pro522Arg)
c.1524+33659C>G (n.1524+33659C>G)
c.1454C>G (p.Pro485Arg)
c.1070C>G (p.Pro357Arg)
1g.97515901G>TCA341378584DPYDc.1565C>A (p.Pro522His)
c.1524+33659C>A (n.1524+33659C>A)
c.1454C>A (p.Pro485His)
c.1070C>A (p.Pro357His)
1g.97515902_97515905dupCA525177607DPYDc.1562_1565dup (p.Leu523ThrfsTer8)
c.1524+33656_1524+33659dup (n.1524+33656_1524+33659dup)
c.1451_1454dup (p.Leu486ThrfsTer8)
c.1067_1070dup (p.Leu358ThrfsTer8)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515902G>ACA341378589DPYDc.1564C>T (p.Pro522Ser)
c.1524+33658C>T (n.1524+33658C>T)
c.1453C>T (p.Pro485Ser)
c.1069C>T (p.Pro357Ser)
gnomAD v4 COSMIC
1g.97515902G>CCA341378586DPYDc.1564C>G (p.Pro522Ala)
c.1524+33658C>G (n.1524+33658C>G)
c.1453C>G (p.Pro485Ala)
c.1069C>G (p.Pro357Ala)
1g.97515902G>TCA341378588DPYDc.1564C>A (p.Pro522Thr)
c.1524+33658C>A (n.1524+33658C>A)
c.1453C>A (p.Pro485Thr)
c.1069C>A (p.Pro357Thr)
1g.97515903T>ACA419143030DPYDc.1563A>T (p.Leu521=)
c.1524+33657A>T (n.1524+33657A>T)
c.1452A>T (p.Leu484=)
c.1068A>T (p.Leu356=)
1g.97515903T>CCA419143033DPYDc.1563A>G (p.Leu521=)
c.1524+33657A>G (n.1524+33657A>G)
c.1452A>G (p.Leu484=)
c.1068A>G (p.Leu356=)
1g.97515903T>GCA419143031DPYDc.1563A>C (p.Leu521=)
c.1524+33657A>C (n.1524+33657A>C)
c.1452A>C (p.Leu484=)
c.1068A>C (p.Leu356=)
1g.97515903_97515904delCA2510746836DPYDc.1562_1563del (p.Leu521ProfsTer8)
c.1524+33656_1524+33657del (n.1524+33656_1524+33657del)
c.1451_1452del (p.Leu484ProfsTer8)
c.1067_1068del (p.Leu356ProfsTer8)
1g.97515904A>CCA341378591DPYDc.1562T>G (p.Leu521Arg)
c.1524+33656T>G (n.1524+33656T>G)
c.1451T>G (p.Leu484Arg)
c.1067T>G (p.Leu356Arg)
COSMIC
1g.97515904A>GCA341378593DPYDc.1562T>C (p.Leu521Pro)
c.1524+33656T>C (n.1524+33656T>C)
c.1451T>C (p.Leu484Pro)
c.1067T>C (p.Leu356Pro)
1g.97515904A>TCA341378594DPYDc.1562T>A (p.Leu521Gln)
c.1524+33656T>A (n.1524+33656T>A)
c.1451T>A (p.Leu484Gln)
c.1067T>A (p.Leu356Gln)
COSMIC
1g.97515905G>ACA419143039DPYDc.1561C>T (p.Leu521=)
c.1524+33655C>T (n.1524+33655C>T)
c.1450C>T (p.Leu484=)
c.1066C>T (p.Leu356=)
1g.97515905G>CCA341378596DPYDc.1561C>G (p.Leu521Val)
c.1524+33655C>G (n.1524+33655C>G)
c.1450C>G (p.Leu484Val)
c.1066C>G (p.Leu356Val)
gnomAD v4
1g.97515905G=CA1182902314DPYDc.1561C= (p.Leu521=)
c.1524+33655C= (n.1524+33655C=)
c.1450C= (p.Leu484=)
c.1066C= (p.Leu356=)
1g.97515905G>TCA341378597DPYDc.1561C>A (p.Leu521Ile)
c.1524+33655C>A (n.1524+33655C>A)
c.1450C>A (p.Leu484Ile)
c.1066C>A (p.Leu356Ile)
dbSNP
1g.97515906T>ACA341378598DPYDc.1560A>T (p.Glu520Asp)
c.1524+33654A>T (n.1524+33654A>T)
c.1449A>T (p.Glu483Asp)
c.1065A>T (p.Glu355Asp)
1g.97515906T>CCA963299DPYDc.1560A>G (p.Glu520=)
c.1524+33654A>G (n.1524+33654A>G)
c.1449A>G (p.Glu483=)
c.1065A>G (p.Glu355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515906T>GCA341378599DPYDc.1560A>C (p.Glu520Asp)
c.1524+33654A>C (n.1524+33654A>C)
c.1449A>C (p.Glu483Asp)
c.1065A>C (p.Glu355Asp)
1g.97515906T=CA1141651459DPYDc.1560A= (p.Glu520=)
c.1524+33654A= (n.1524+33654A=)
c.1449A= (p.Glu483=)
c.1065A= (p.Glu355=)
1g.97515906_97515907delCA2566618997DPYDc.1559_1560del (p.Glu520AlafsTer9)
c.1524+33653_1524+33654del (n.1524+33653_1524+33654del)
c.1448_1449del (p.Glu483AlafsTer9)
c.1064_1065del (p.Glu355AlafsTer9)
1g.97515907T>ACA341378600DPYDc.1559A>T (p.Glu520Val)
c.1524+33653A>T (n.1524+33653A>T)
c.1448A>T (p.Glu483Val)
c.1064A>T (p.Glu355Val)
1g.97515907T>CCA341378602DPYDc.1559A>G (p.Glu520Gly)
c.1524+33653A>G (n.1524+33653A>G)
c.1448A>G (p.Glu483Gly)
c.1064A>G (p.Glu355Gly)
1g.97515907T>GCA341378605DPYDc.1559A>C (p.Glu520Ala)
c.1524+33653A>C (n.1524+33653A>C)
c.1448A>C (p.Glu483Ala)
c.1064A>C (p.Glu355Ala)
1g.97515908C>ACA341378609DPYDc.1558G>T (p.Glu520Ter)
c.1524+33652G>T (n.1524+33652G>T)
c.1447G>T (p.Glu483Ter)
c.1063G>T (p.Glu355Ter)
dbSNP gnomAD v3 gnomAD v4
1g.97515908C=CA1182902315DPYDc.1558G= (p.Glu520=)
c.1524+33652G= (n.1524+33652G=)
c.1447G= (p.Glu483=)
c.1063G= (p.Glu355=)
1g.97515908C>GCA27638274DPYDc.1558G>C (p.Glu520Gln)
c.1524+33652G>C (n.1524+33652G>C)
c.1447G>C (p.Glu483Gln)
c.1063G>C (p.Glu355Gln)
dbSNP gnomAD v4
1g.97515908C>TCA341378607DPYDc.1558G>A (p.Glu520Lys)
c.1524+33652G>A (n.1524+33652G>A)
c.1447G>A (p.Glu483Lys)
c.1063G>A (p.Glu355Lys)
dbSNP
1g.97515909A>CCA419143043DPYDc.1557T>G (p.Pro519=)
c.1524+33651T>G (n.1524+33651T>G)
c.1446T>G (p.Pro482=)
c.1062T>G (p.Pro354=)
1g.97515909A>GCA419143044DPYDc.1557T>C (p.Pro519=)
c.1524+33651T>C (n.1524+33651T>C)
c.1446T>C (p.Pro482=)
c.1062T>C (p.Pro354=)
1g.97515909A>TCA419143045DPYDc.1557T>A (p.Pro519=)
c.1524+33651T>A (n.1524+33651T>A)
c.1446T>A (p.Pro482=)
c.1062T>A (p.Pro354=)
1g.97515910G>ACA341378612DPYDc.1556C>T (p.Pro519Leu)
c.1524+33650C>T (n.1524+33650C>T)
c.1445C>T (p.Pro482Leu)
c.1061C>T (p.Pro354Leu)
1g.97515910G>CCA341378613DPYDc.1556C>G (p.Pro519Arg)
c.1524+33650C>G (n.1524+33650C>G)
c.1445C>G (p.Pro482Arg)
c.1061C>G (p.Pro354Arg)
1g.97515910G>TCA341378614DPYDc.1556C>A (p.Pro519His)
c.1524+33650C>A (n.1524+33650C>A)
c.1445C>A (p.Pro482His)
c.1061C>A (p.Pro354His)
1g.97515911G>ACA228127DPYDc.1555C>T (p.Pro519Ser)
c.1524+33649C>T (n.1524+33649C>T)
c.1444C>T (p.Pro482Ser)
c.1060C>T (p.Pro354Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515911G>CCA341378616DPYDc.1555C>G (p.Pro519Ala)
c.1524+33649C>G (n.1524+33649C>G)
c.1444C>G (p.Pro482Ala)
c.1060C>G (p.Pro354Ala)
gnomAD v4
1g.97515911G=CA1148224419DPYDc.1555C= (p.Pro519=)
c.1524+33649C= (n.1524+33649C=)
c.1444C= (p.Pro482=)
c.1060C= (p.Pro354=)
1g.97515911G>TCA341378617DPYDc.1555C>A (p.Pro519Thr)
c.1524+33649C>A (n.1524+33649C>A)
c.1444C>A (p.Pro482Thr)
c.1060C>A (p.Pro354Thr)
dbSNP gnomAD v2
1g.97515912C>ACA341378618DPYDc.1554G>T (p.Lys518Asn)
c.1524+33648G>T (n.1524+33648G>T)
c.1443G>T (p.Lys481Asn)
c.1059G>T (p.Lys353Asn)
1g.97515912C=CA1143665532DPYDc.1554G= (p.Lys518=)
c.1524+33648G= (n.1524+33648G=)
c.1443G= (p.Lys481=)
c.1059G= (p.Lys353=)
1g.97515912C>GCA341378619DPYDc.1554G>C (p.Lys518Asn)
c.1524+33648G>C (n.1524+33648G>C)
c.1443G>C (p.Lys481Asn)
c.1059G>C (p.Lys353Asn)
1g.97515912C>TCA963300DPYDc.1554G>A (p.Lys518=)
c.1524+33648G>A (n.1524+33648G>A)
c.1443G>A (p.Lys481=)
c.1059G>A (p.Lys353=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515913T>ACA341378620DPYDc.1553A>T (p.Lys518Met)
c.1524+33647A>T (n.1524+33647A>T)
c.1442A>T (p.Lys481Met)
c.1058A>T (p.Lys353Met)
1g.97515913T>CCA341378621DPYDc.1553A>G (p.Lys518Arg)
c.1524+33647A>G (n.1524+33647A>G)
c.1442A>G (p.Lys481Arg)
c.1058A>G (p.Lys353Arg)
gnomAD v4
1g.97515913T>GCA341378622DPYDc.1553A>C (p.Lys518Thr)
c.1524+33647A>C (n.1524+33647A>C)
c.1442A>C (p.Lys481Thr)
c.1058A>C (p.Lys353Thr)
1g.97515914T>ACA341378624DPYDc.1552A>T (p.Lys518Ter)
c.1524+33646A>T (n.1524+33646A>T)
c.1441A>T (p.Lys481Ter)
c.1057A>T (p.Lys353Ter)
1g.97515914T>CCA963301DPYDc.1552A>G (p.Lys518Glu)
c.1524+33646A>G (n.1524+33646A>G)
c.1441A>G (p.Lys481Glu)
c.1057A>G (p.Lys353Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515914T>GCA341378623DPYDc.1552A>C (p.Lys518Gln)
c.1524+33646A>C (n.1524+33646A>C)
c.1441A>C (p.Lys481Gln)
c.1057A>C (p.Lys353Gln)
1g.97515914T=CA1148265299DPYDc.1552A= (p.Lys518=)
c.1524+33646A= (n.1524+33646A=)
c.1441A= (p.Lys481=)
c.1057A= (p.Lys353=)
1g.97515915G>ACA419143048DPYDc.1551C>T (p.Ala517=)
c.1524+33645C>T (n.1524+33645C>T)
c.1440C>T (p.Ala480=)
c.1056C>T (p.Ala352=)
1g.97515915G>CCA419143049DPYDc.1551C>G (p.Ala517=)
c.1524+33645C>G (n.1524+33645C>G)
c.1440C>G (p.Ala480=)
c.1056C>G (p.Ala352=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97515915G=CA1182902316DPYDc.1551C= (p.Ala517=)
c.1524+33645C= (n.1524+33645C=)
c.1440C= (p.Ala480=)
c.1056C= (p.Ala352=)
1g.97515915G>TCA419143047DPYDc.1551C>A (p.Ala517=)
c.1524+33645C>A (n.1524+33645C>A)
c.1440C>A (p.Ala480=)
c.1056C>A (p.Ala352=)
1g.97515916G>ACA341378625DPYDc.1550C>T (p.Ala517Val)
c.1524+33644C>T (n.1524+33644C>T)
c.1439C>T (p.Ala480Val)
c.1055C>T (p.Ala352Val)
1g.97515916G>CCA341378626DPYDc.1550C>G (p.Ala517Gly)
c.1524+33644C>G (n.1524+33644C>G)
c.1439C>G (p.Ala480Gly)
c.1055C>G (p.Ala352Gly)
1g.97515916G>TCA341378627DPYDc.1550C>A (p.Ala517Asp)
c.1524+33644C>A (n.1524+33644C>A)
c.1439C>A (p.Ala480Asp)
c.1055C>A (p.Ala352Asp)
1g.97515917C>ACA341378628DPYDc.1549G>T (p.Ala517Ser)
c.1524+33643G>T (n.1524+33643G>T)
c.1438G>T (p.Ala480Ser)
c.1054G>T (p.Ala352Ser)
dbSNP
1g.97515917C=CA1182902317DPYDc.1549G= (p.Ala517=)
c.1524+33643G= (n.1524+33643G=)
c.1438G= (p.Ala480=)
c.1054G= (p.Ala352=)
1g.97515917C>GCA341378629DPYDc.1549G>C (p.Ala517Pro)
c.1524+33643G>C (n.1524+33643G>C)
c.1438G>C (p.Ala480Pro)
c.1054G>C (p.Ala352Pro)
1g.97515917C>TCA341378630DPYDc.1549G>A (p.Ala517Thr)
c.1524+33643G>A (n.1524+33643G>A)
c.1438G>A (p.Ala480Thr)
c.1054G>A (p.Ala352Thr)
1g.97515918A>CCA419143050DPYDc.1548T>G (p.Ser516=)
c.1524+33642T>G (n.1524+33642T>G)
c.1437T>G (p.Ser479=)
c.1053T>G (p.Ser351=)
1g.97515918A>GCA419143051DPYDc.1548T>C (p.Ser516=)
c.1524+33642T>C (n.1524+33642T>C)
c.1437T>C (p.Ser479=)
c.1053T>C (p.Ser351=)
1g.97515918A>TCA419143052DPYDc.1548T>A (p.Ser516=)
c.1524+33642T>A (n.1524+33642T>A)
c.1437T>A (p.Ser479=)
c.1053T>A (p.Ser351=)
1g.97515920_97515928dupCA1182902318DPYDc.1540_1548dup (p.Ser516_Ala517insSerValSer)
c.1524+33634_1524+33642dup (n.1524+33634_1524+33642dup)
c.1429_1437dup (p.Ser479_Ala480insSerValSer)
c.1045_1053dup (p.Ser351_Ala352insSerValSer)
dbSNP
1g.97515919G>ACA341378638DPYDc.1547C>T (p.Ser516Phe)
c.1524+33641C>T (n.1524+33641C>T)
c.1436C>T (p.Ser479Phe)
c.1052C>T (p.Ser351Phe)
dbSNP gnomAD v4
1g.97515919G>CCA341378633DPYDc.1547C>G (p.Ser516Cys)
c.1524+33641C>G (n.1524+33641C>G)
c.1436C>G (p.Ser479Cys)
c.1052C>G (p.Ser351Cys)
1g.97515919G=CA1182902319DPYDc.1547C= (p.Ser516=)
c.1524+33641C= (n.1524+33641C=)
c.1436C= (p.Ser479=)
c.1052C= (p.Ser351=)
1g.97515919G>TCA963302DPYDc.1547C>A (p.Ser516Tyr)
c.1524+33641C>A (n.1524+33641C>A)
c.1436C>A (p.Ser479Tyr)
c.1052C>A (p.Ser351Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515920A>CCA341378640DPYDc.1546T>G (p.Ser516Ala)
c.1524+33640T>G (n.1524+33640T>G)
c.1435T>G (p.Ser479Ala)
c.1051T>G (p.Ser351Ala)
1g.97515920A>GCA341378642DPYDc.1546T>C (p.Ser516Pro)
c.1524+33640T>C (n.1524+33640T>C)
c.1435T>C (p.Ser479Pro)
c.1051T>C (p.Ser351Pro)
1g.97515920A>TCA341378644DPYDc.1546T>A (p.Ser516Thr)
c.1524+33640T>A (n.1524+33640T>A)
c.1435T>A (p.Ser479Thr)
c.1051T>A (p.Ser351Thr)
1g.97515921A>CCA419143053DPYDc.1545T>G (p.Val515=)
c.1524+33639T>G (n.1524+33639T>G)
c.1434T>G (p.Val478=)
c.1050T>G (p.Val350=)
1g.97515921A>GCA419143054DPYDc.1545T>C (p.Val515=)
c.1524+33639T>C (n.1524+33639T>C)
c.1434T>C (p.Val478=)
c.1050T>C (p.Val350=)
1g.97515921A>TCA419143055DPYDc.1545T>A (p.Val515=)
c.1524+33639T>A (n.1524+33639T>A)
c.1434T>A (p.Val478=)
c.1050T>A (p.Val350=)
1g.97515922A>CCA341378646DPYDc.1544T>G (p.Val515Gly)
c.1524+33638T>G (n.1524+33638T>G)
c.1433T>G (p.Val478Gly)
c.1049T>G (p.Val350Gly)
1g.97515922A>GCA341378648DPYDc.1544T>C (p.Val515Ala)
c.1524+33638T>C (n.1524+33638T>C)
c.1433T>C (p.Val478Ala)
c.1049T>C (p.Val350Ala)
1g.97515922A>TCA341378649DPYDc.1544T>A (p.Val515Asp)
c.1524+33638T>A (n.1524+33638T>A)
c.1433T>A (p.Val478Asp)
c.1049T>A (p.Val350Asp)
1g.97515923C>ACA341378651DPYDc.1543G>T (p.Val515Phe)
c.1524+33637G>T (n.1524+33637G>T)
c.1432G>T (p.Val478Phe)
c.1048G>T (p.Val350Phe)
1g.97515923C=CA1142274879DPYDc.1543G= (p.Val515=)
c.1524+33637G= (n.1524+33637G=)
c.1432G= (p.Val478=)
c.1048G= (p.Val350=)
1g.97515923C>GCA341378652DPYDc.1543G>C (p.Val515Leu)
c.1524+33637G>C (n.1524+33637G>C)
c.1432G>C (p.Val478Leu)
c.1048G>C (p.Val350Leu)
1g.97515923C>TCA963303DPYDc.1543G>A (p.Val515Ile)
c.1524+33637G>A (n.1524+33637G>A)
c.1432G>A (p.Val478Ile)
c.1048G>A (p.Val350Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97515924G>ACA963304DPYDc.1542C>T (p.Ser514=)
c.1524+33636C>T (n.1524+33636C>T)
c.1431C>T (p.Ser477=)
c.1047C>T (p.Ser349=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515924G>CCA419143056DPYDc.1542C>G (p.Ser514=)
c.1524+33636C>G (n.1524+33636C>G)
c.1431C>G (p.Ser477=)
c.1047C>G (p.Ser349=)
1g.97515924G=CA1148874952DPYDc.1542C= (p.Ser514=)
c.1524+33636C= (n.1524+33636C=)
c.1431C= (p.Ser477=)
c.1047C= (p.Ser349=)
1g.97515924G>TCA419143057DPYDc.1542C>A (p.Ser514=)
c.1524+33636C>A (n.1524+33636C>A)
c.1431C>A (p.Ser477=)
c.1047C>A (p.Ser349=)
1g.97515925G>ACA963305DPYDc.1541C>T (p.Ser514Phe)
c.1524+33635C>T (n.1524+33635C>T)
c.1430C>T (p.Ser477Phe)
c.1046C>T (p.Ser349Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515925G>CCA341378655DPYDc.1541C>G (p.Ser514Cys)
c.1524+33635C>G (n.1524+33635C>G)
c.1430C>G (p.Ser477Cys)
c.1046C>G (p.Ser349Cys)
1g.97515925G=CA1182902320DPYDc.1541C= (p.Ser514=)
c.1524+33635C= (n.1524+33635C=)
c.1430C= (p.Ser477=)
c.1046C= (p.Ser349=)
1g.97515925G>TCA341378654DPYDc.1541C>A (p.Ser514Tyr)
c.1524+33635C>A (n.1524+33635C>A)
c.1430C>A (p.Ser477Tyr)
c.1046C>A (p.Ser349Tyr)
1g.97515926A>CCA341378657DPYDc.1540T>G (p.Ser514Ala)
c.1524+33634T>G (n.1524+33634T>G)
c.1429T>G (p.Ser477Ala)
c.1045T>G (p.Ser349Ala)
1g.97515926A>GCA341378665DPYDc.1540T>C (p.Ser514Pro)
c.1524+33634T>C (n.1524+33634T>C)
c.1429T>C (p.Ser477Pro)
c.1045T>C (p.Ser349Pro)
1g.97515926A>TCA341378663DPYDc.1540T>A (p.Ser514Thr)
c.1524+33634T>A (n.1524+33634T>A)
c.1429T>A (p.Ser477Thr)
c.1045T>A (p.Ser349Thr)
1g.97515927A=CA1182902321DPYDc.1539T= (p.Ala513=)
c.1524+33633T= (n.1524+33633T=)
c.1428T= (p.Ala476=)
c.1044T= (p.Ala348=)
1g.97515927A>CCA419143058DPYDc.1539T>G (p.Ala513=)
c.1524+33633T>G (n.1524+33633T>G)
c.1428T>G (p.Ala476=)
c.1044T>G (p.Ala348=)
1g.97515927A>GCA963306DPYDc.1539T>C (p.Ala513=)
c.1524+33633T>C (n.1524+33633T>C)
c.1428T>C (p.Ala476=)
c.1044T>C (p.Ala348=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97515927A>TCA419143059DPYDc.1539T>A (p.Ala513=)
c.1524+33633T>A (n.1524+33633T>A)
c.1428T>A (p.Ala476=)
c.1044T>A (p.Ala348=)
1g.97515928G>ACA963307DPYDc.1538C>T (p.Ala513Val)
c.1524+33632C>T (n.1524+33632C>T)
c.1427C>T (p.Ala476Val)
c.1043C>T (p.Ala348Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515928G>CCA10610481DPYDc.1538C>G (p.Ala513Gly)
c.1524+33632C>G (n.1524+33632C>G)
c.1427C>G (p.Ala476Gly)
c.1043C>G (p.Ala348Gly)
ClinVar dbSNP
1g.97515928G=CA1182902322DPYDc.1538C= (p.Ala513=)
c.1524+33632C= (n.1524+33632C=)
c.1427C= (p.Ala476=)
c.1043C= (p.Ala348=)
1g.97515928G>TCA341378669DPYDc.1538C>A (p.Ala513Asp)
c.1524+33632C>A (n.1524+33632C>A)
c.1427C>A (p.Ala476Asp)
c.1043C>A (p.Ala348Asp)
1g.97515929C>ACA341378673DPYDc.1537G>T (p.Ala513Ser)
c.1524+33631G>T (n.1524+33631G>T)
c.1426G>T (p.Ala476Ser)
c.1042G>T (p.Ala348Ser)
dbSNP
1g.97515929C=CA1182902323DPYDc.1537G= (p.Ala513=)
c.1524+33631G= (n.1524+33631G=)
c.1426G= (p.Ala476=)
c.1042G= (p.Ala348=)
1g.97515929C>GCA341378674DPYDc.1537G>C (p.Ala513Pro)
c.1524+33631G>C (n.1524+33631G>C)
c.1426G>C (p.Ala476Pro)
c.1042G>C (p.Ala348Pro)
ClinVar dbSNP
1g.97515929C>TCA341378675DPYDc.1537G>A (p.Ala513Thr)
c.1524+33631G>A (n.1524+33631G>A)
c.1426G>A (p.Ala476Thr)
c.1042G>A (p.Ala348Thr)
gnomAD v4
1g.97515930T>ACA419143060DPYDc.1536A>T (p.Gly512=)
c.1524+33630A>T (n.1524+33630A>T)
c.1425A>T (p.Gly475=)
c.1041A>T (p.Gly347=)
1g.97515930T>CCA419143061DPYDc.1536A>G (p.Gly512=)
c.1524+33630A>G (n.1524+33630A>G)
c.1425A>G (p.Gly475=)
c.1041A>G (p.Gly347=)
gnomAD v4
1g.97515930T>GCA419143062DPYDc.1536A>C (p.Gly512=)
c.1524+33630A>C (n.1524+33630A>C)
c.1425A>C (p.Gly475=)
c.1041A>C (p.Gly347=)
1g.97515931C>ACA341378678DPYDc.1535G>T (p.Gly512Val)
c.1524+33629G>T (n.1524+33629G>T)
c.1424G>T (p.Gly475Val)
c.1040G>T (p.Gly347Val)
gnomAD v4
1g.97515931C>GCA341378676DPYDc.1535G>C (p.Gly512Ala)
c.1524+33629G>C (n.1524+33629G>C)
c.1424G>C (p.Gly475Ala)
c.1040G>C (p.Gly347Ala)
1g.97515931C>TCA341378677DPYDc.1535G>A (p.Gly512Glu)
c.1524+33629G>A (n.1524+33629G>A)
c.1424G>A (p.Gly475Glu)
c.1040G>A (p.Gly347Glu)
COSMIC
1g.97515932C>ACA341378679DPYDc.1534G>T (p.Gly512Ter)
c.1524+33628G>T (n.1524+33628G>T)
c.1423G>T (p.Gly475Ter)
c.1039G>T (p.Gly347Ter)
1g.97515932C>GCA341378680DPYDc.1534G>C (p.Gly512Arg)
c.1524+33628G>C (n.1524+33628G>C)
c.1423G>C (p.Gly475Arg)
c.1039G>C (p.Gly347Arg)
1g.97515932C>TCA341378681DPYDc.1534G>A (p.Gly512Arg)
c.1524+33628G>A (n.1524+33628G>A)
c.1423G>A (p.Gly475Arg)
c.1039G>A (p.Gly347Arg)
1g.97515933A=CA1182902324DPYDc.1533T= (p.Tyr511=)
c.1524+33627T= (n.1524+33627T=)
c.1422T= (p.Tyr474=)
c.1038T= (p.Tyr346=)
1g.97515933A>CCA341378682DPYDc.1533T>G (p.Tyr511Ter)
c.1524+33627T>G (n.1524+33627T>G)
c.1422T>G (p.Tyr474Ter)
c.1038T>G (p.Tyr346Ter)
1g.97515933A>GCA419143063DPYDc.1533T>C (p.Tyr511=)
c.1524+33627T>C (n.1524+33627T>C)
c.1422T>C (p.Tyr474=)
c.1038T>C (p.Tyr346=)
dbSNP gnomAD v4
1g.97515933A>TCA341378683DPYDc.1533T>A (p.Tyr511Ter)
c.1524+33627T>A (n.1524+33627T>A)
c.1422T>A (p.Tyr474Ter)
c.1038T>A (p.Tyr346Ter)
1g.97515934T>ACA341378684DPYDc.1532A>T (p.Tyr511Phe)
c.1524+33626A>T (n.1524+33626A>T)
c.1421A>T (p.Tyr474Phe)
c.1037A>T (p.Tyr346Phe)
1g.97515934T>CCA341378686DPYDc.1532A>G (p.Tyr511Cys)
c.1524+33626A>G (n.1524+33626A>G)
c.1421A>G (p.Tyr474Cys)
c.1037A>G (p.Tyr346Cys)
gnomAD v4
1g.97515934T>GCA341378685DPYDc.1532A>C (p.Tyr511Ser)
c.1524+33626A>C (n.1524+33626A>C)
c.1421A>C (p.Tyr474Ser)
c.1037A>C (p.Tyr346Ser)
1g.97515935A>CCA341378688DPYDc.1531T>G (p.Tyr511Asp)
c.1524+33625T>G (n.1524+33625T>G)
c.1420T>G (p.Tyr474Asp)
c.1036T>G (p.Tyr346Asp)
1g.97515935A>GCA341378690DPYDc.1531T>C (p.Tyr511His)
c.1524+33625T>C (n.1524+33625T>C)
c.1420T>C (p.Tyr474His)
c.1036T>C (p.Tyr346His)
1g.97515935A>TCA341378691DPYDc.1531T>A (p.Tyr511Asn)
c.1524+33625T>A (n.1524+33625T>A)
c.1420T>A (p.Tyr474Asn)
c.1036T>A (p.Tyr346Asn)
1g.97515936T>ACA341378692DPYDc.1530A>T (p.Gln510His)
c.1524+33624A>T (n.1524+33624A>T)
c.1419A>T (p.Gln473His)
c.1035A>T (p.Gln345His)
1g.97515936T>CCA419143064DPYDc.1530A>G (p.Gln510=)
c.1524+33624A>G (n.1524+33624A>G)
c.1419A>G (p.Gln473=)
c.1035A>G (p.Gln345=)
gnomAD v4
1g.97515936T>GCA341378693DPYDc.1530A>C (p.Gln510His)
c.1524+33624A>C (n.1524+33624A>C)
c.1419A>C (p.Gln473His)
c.1035A>C (p.Gln345His)
1g.97515937T>ACA341378695DPYDc.1529A>T (p.Gln510Leu)
c.1524+33623A>T (n.1524+33623A>T)
c.1418A>T (p.Gln473Leu)
c.1034A>T (p.Gln345Leu)
1g.97515937T>CCA341378697DPYDc.1529A>G (p.Gln510Arg)
c.1524+33623A>G (n.1524+33623A>G)
c.1418A>G (p.Gln473Arg)
c.1034A>G (p.Gln345Arg)
1g.97515937T>GCA341378701DPYDc.1529A>C (p.Gln510Pro)
c.1524+33623A>C (n.1524+33623A>C)
c.1418A>C (p.Gln473Pro)
c.1034A>C (p.Gln345Pro)
1g.97515938G>ACA341378703DPYDc.1528C>T (p.Gln510Ter)
c.1524+33622C>T (n.1524+33622C>T)
c.1417C>T (p.Gln473Ter)
c.1033C>T (p.Gln345Ter)
1g.97515938G>CCA341378705DPYDc.1528C>G (p.Gln510Glu)
c.1524+33622C>G (n.1524+33622C>G)
c.1417C>G (p.Gln473Glu)
c.1033C>G (p.Gln345Glu)
1g.97515938G>TCA341378706DPYDc.1528C>A (p.Gln510Lys)
c.1524+33622C>A (n.1524+33622C>A)
c.1417C>A (p.Gln473Lys)
c.1033C>A (p.Gln345Lys)
1g.97515939T>ACA419143065DPYDc.1527A>T (p.Ser509=)
c.1524+33621A>T (n.1524+33621A>T)
c.1416A>T (p.Ser472=)
c.1032A>T (p.Ser344=)
1g.97515939T>CCA419143066DPYDc.1527A>G (p.Ser509=)
c.1524+33621A>G (n.1524+33621A>G)
c.1416A>G (p.Ser472=)
c.1032A>G (p.Ser344=)
1g.97515939T>GCA419143067DPYDc.1527A>C (p.Ser509=)
c.1524+33621A>C (n.1524+33621A>C)
c.1416A>C (p.Ser472=)
c.1032A>C (p.Ser344=)

Number of alleles fetched