Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549650T>ACA419145311DPYDc.1434A>T (p.Ala478=)
c.1323A>T (p.Ala441=)
c.939A>T (p.Ala313=)
 COSMIC
1g.97549650T>CCA419145312DPYDc.1434A>G (p.Ala478=)
c.1323A>G (p.Ala441=)
c.939A>G (p.Ala313=)
 dbSNP
1g.97549650T>GCA419145313DPYDc.1434A>C (p.Ala478=)
c.1323A>C (p.Ala441=)
c.939A>C (p.Ala313=)
 gnomAD v4
1g.97549650T=CA1182917423DPYDc.1434A= (p.Ala478=)
c.1323A= (p.Ala441=)
c.939A= (p.Ala313=)
1g.97549651G>ACA341377715DPYDc.1433C>T (p.Ala478Val)
c.1322C>T (p.Ala441Val)
c.938C>T (p.Ala313Val)
1g.97549651G>CCA341377720DPYDc.1433C>G (p.Ala478Gly)
c.1322C>G (p.Ala441Gly)
c.938C>G (p.Ala313Gly)
1g.97549651G>TCA341377716DPYDc.1433C>A (p.Ala478Glu)
c.1322C>A (p.Ala441Glu)
c.938C>A (p.Ala313Glu)
1g.97549652C>ACA341377721DPYDc.1432G>T (p.Ala478Ser)
c.1321G>T (p.Ala441Ser)
c.937G>T (p.Ala313Ser)
1g.97549652C=CA1182917424DPYDc.1432G= (p.Ala478=)
c.1321G= (p.Ala441=)
c.937G= (p.Ala313=)
1g.97549652C>GCA341377722DPYDc.1432G>C (p.Ala478Pro)
c.1321G>C (p.Ala441Pro)
c.937G>C (p.Ala313Pro)
 gnomAD v4
1g.97549652C>TCA341377723DPYDc.1432G>A (p.Ala478Thr)
c.1321G>A (p.Ala441Thr)
c.937G>A (p.Ala313Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.97549653A>CCA341377724DPYDc.1431T>G (p.Phe477Leu)
c.1320T>G (p.Phe440Leu)
c.936T>G (p.Phe312Leu)
 gnomAD v4
1g.97549653A>GCA419145315DPYDc.1431T>C (p.Phe477=)
c.1320T>C (p.Phe440=)
c.936T>C (p.Phe312=)
1g.97549653A>TCA341377725DPYDc.1431T>A (p.Phe477Leu)
c.1320T>A (p.Phe440Leu)
c.936T>A (p.Phe312Leu)
1g.97549654_97549655insTAATGGTGCTGATGCGGTCGATTTGTGCAAAAATCAAGCCTTTGACCTCGTGTTGCTCGATGAAACA2526495935DPYDc.1431_1432insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala478SerfsTer10)
c.1320_1321insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala441SerfsTer10)
c.936_937insTCATCGAGCAACACGAGGTCAAAGGCTTGATTTTTGCACAAATCGACCGCATCAGCACCATTATT (p.Ala313SerfsTer10)
1g.97549654A>CCA341377726DPYDc.1430T>G (p.Phe477Cys)
c.1319T>G (p.Phe440Cys)
c.935T>G (p.Phe312Cys)
1g.97549654A>GCA341377727DPYDc.1430T>C (p.Phe477Ser)
c.1319T>C (p.Phe440Ser)
c.935T>C (p.Phe312Ser)
1g.97549654A>TCA341377728DPYDc.1430T>A (p.Phe477Tyr)
c.1319T>A (p.Phe440Tyr)
c.935T>A (p.Phe312Tyr)
1g.97549655A>CCA341377729DPYDc.1429T>G (p.Phe477Val)
c.1318T>G (p.Phe440Val)
c.934T>G (p.Phe312Val)
1g.97549655A>GCA341377730DPYDc.1429T>C (p.Phe477Leu)
c.1318T>C (p.Phe440Leu)
c.934T>C (p.Phe312Leu)
1g.97549655A>TCA341377731DPYDc.1429T>A (p.Phe477Ile)
c.1318T>A (p.Phe440Ile)
c.934T>A (p.Phe312Ile)
1g.97549656T>ACA419145318DPYDc.1428A>T (p.Val476=)
c.1317A>T (p.Val439=)
c.933A>T (p.Val311=)
1g.97549656T>CCA419145319DPYDc.1428A>G (p.Val476=)
c.1317A>G (p.Val439=)
c.933A>G (p.Val311=)
 dbSNP gnomAD v4
1g.97549656T>GCA419145320DPYDc.1428A>C (p.Val476=)
c.1317A>C (p.Val439=)
c.933A>C (p.Val311=)
1g.97549656T=CA1182917425DPYDc.1428A= (p.Val476=)
c.1317A= (p.Val439=)
c.933A= (p.Val311=)
1g.97549657A>CCA341377734DPYDc.1427T>G (p.Val476Gly)
c.1316T>G (p.Val439Gly)
c.932T>G (p.Val311Gly)
1g.97549657A>GCA341377733DPYDc.1427T>C (p.Val476Ala)
c.1316T>C (p.Val439Ala)
c.932T>C (p.Val311Ala)
 gnomAD v4
1g.97549657A>TCA341377732DPYDc.1427T>A (p.Val476Glu)
c.1316T>A (p.Val439Glu)
c.932T>A (p.Val311Glu)
1g.97549657_97549658insTGCCCGGCCTCTCTGGTCTCGAAACCCTCTCCGCCATCAAAGACTTGCATCCTGAGATGCA2558027213DPYDc.1426_1427insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val476AlafsTer8)
c.1315_1316insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val439AlafsTer8)
c.931_932insCATCTCAGGATGCAAGTCTTTGATGGCGGAGAGGGTTTCGAGACCAGAGAGGCCGGGCA (p.Val311AlafsTer8)
1g.97549658C>ACA341377735DPYDc.1426G>T (p.Val476Leu)
c.1315G>T (p.Val439Leu)
c.931G>T (p.Val311Leu)
 gnomAD v4
1g.97549658C=CA1182917426DPYDc.1426G= (p.Val476=)
c.1315G= (p.Val439=)
c.931G= (p.Val311=)
1g.97549658C>GCA341377736DPYDc.1426G>C (p.Val476Leu)
c.1315G>C (p.Val439Leu)
c.931G>C (p.Val311Leu)
1g.97549658C>TCA341377737DPYDc.1426G>A (p.Val476Ile)
c.1315G>A (p.Val439Ile)
c.931G>A (p.Val311Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.97549659C>ACA341377738DPYDc.1425G>T (p.Trp475Cys)
c.1314G>T (p.Trp438Cys)
c.930G>T (p.Trp310Cys)
1g.97549659C>GCA341377739DPYDc.1425G>C (p.Trp475Cys)
c.1314G>C (p.Trp438Cys)
c.930G>C (p.Trp310Cys)
1g.97549659C>TCA341377740DPYDc.1425G>A (p.Trp475Ter)
c.1314G>A (p.Trp438Ter)
c.930G>A (p.Trp310Ter)
1g.97549660C>ACA341377741DPYDc.1424G>T (p.Trp475Leu)
c.1313G>T (p.Trp438Leu)
c.929G>T (p.Trp310Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.97549660C=CA1182917427DPYDc.1424G= (p.Trp475=)
c.1313G= (p.Trp438=)
c.929G= (p.Trp310=)
1g.97549660C>GCA341377742DPYDc.1424G>C (p.Trp475Ser)
c.1313G>C (p.Trp438Ser)
c.929G>C (p.Trp310Ser)
1g.97549660C>TCA341377743DPYDc.1424G>A (p.Trp475Ter)
c.1313G>A (p.Trp438Ter)
c.929G>A (p.Trp310Ter)
1g.97549661A>CCA341377744DPYDc.1423T>G (p.Trp475Gly)
c.1312T>G (p.Trp438Gly)
c.928T>G (p.Trp310Gly)
1g.97549661A>GCA341377745DPYDc.1423T>C (p.Trp475Arg)
c.1312T>C (p.Trp438Arg)
c.928T>C (p.Trp310Arg)
1g.97549661A>TCA341377746DPYDc.1423T>A (p.Trp475Arg)
c.1312T>A (p.Trp438Arg)
c.928T>A (p.Trp310Arg)
1g.97549662T>ACA419145325DPYDc.1422A>T (p.Ala474=)
c.1311A>T (p.Ala437=)
c.927A>T (p.Ala309=)
1g.97549662T>CCA419145324DPYDc.1422A>G (p.Ala474=)
c.1311A>G (p.Ala437=)
c.927A>G (p.Ala309=)
 gnomAD v4
1g.97549662T>GCA419145323DPYDc.1422A>C (p.Ala474=)
c.1311A>C (p.Ala437=)
c.927A>C (p.Ala309=)
1g.97549663G>ACA341377747DPYDc.1421C>T (p.Ala474Val)
c.1310C>T (p.Ala437Val)
c.926C>T (p.Ala309Val)
1g.97549663G>CCA341377749DPYDc.1421C>G (p.Ala474Gly)
c.1310C>G (p.Ala437Gly)
c.926C>G (p.Ala309Gly)
1g.97549663G>TCA341377748DPYDc.1421C>A (p.Ala474Glu)
c.1310C>A (p.Ala437Glu)
c.926C>A (p.Ala309Glu)
1g.97549664C>ACA341377750DPYDc.1420G>T (p.Ala474Ser)
c.1309G>T (p.Ala437Ser)
c.925G>T (p.Ala309Ser)
1g.97549664C>GCA341377752DPYDc.1420G>C (p.Ala474Pro)
c.1309G>C (p.Ala437Pro)
c.925G>C (p.Ala309Pro)
1g.97549664C>TCA341377751DPYDc.1420G>A (p.Ala474Thr)
c.1309G>A (p.Ala437Thr)
c.925G>A (p.Ala309Thr)
1g.97549665T>ACA341377753DPYDc.1419A>T (p.Glu473Asp)
c.1308A>T (p.Glu436Asp)
c.924A>T (p.Glu308Asp)
1g.97549665T>CCA419145329DPYDc.1419A>G (p.Glu473=)
c.1308A>G (p.Glu436=)
c.924A>G (p.Glu308=)
 gnomAD v4
1g.97549665T>GCA341377754DPYDc.1419A>C (p.Glu473Asp)
c.1308A>C (p.Glu436Asp)
c.924A>C (p.Glu308Asp)
1g.97549666T>ACA341377755DPYDc.1418A>T (p.Glu473Val)
c.1307A>T (p.Glu436Val)
c.923A>T (p.Glu308Val)
1g.97549666T>CCA341377756DPYDc.1418A>G (p.Glu473Gly)
c.1307A>G (p.Glu436Gly)
c.923A>G (p.Glu308Gly)
1g.97549666T>GCA341377757DPYDc.1418A>C (p.Glu473Ala)
c.1307A>C (p.Glu436Ala)
c.923A>C (p.Glu308Ala)
1g.97549667C>ACA341377759DPYDc.1417G>T (p.Glu473Ter)
c.1306G>T (p.Glu436Ter)
c.922G>T (p.Glu308Ter)
1g.97549667C>GCA341377760DPYDc.1417G>C (p.Glu473Gln)
c.1306G>C (p.Glu436Gln)
c.922G>C (p.Glu308Gln)
1g.97549667C>TCA341377761DPYDc.1417G>A (p.Glu473Lys)
c.1306G>A (p.Glu436Lys)
c.922G>A (p.Glu308Lys)
1g.97549668A=CA1182917428DPYDc.1416T= (p.Ser472=)
c.1305T= (p.Ser435=)
c.921T= (p.Ser307=)
1g.97549668A>CCA341377762DPYDc.1416T>G (p.Ser472Arg)
c.1305T>G (p.Ser435Arg)
c.921T>G (p.Ser307Arg)
 gnomAD v4
1g.97549668A>GCA963346DPYDc.1416T>C (p.Ser472=)
c.1305T>C (p.Ser435=)
c.921T>C (p.Ser307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549668A>TCA341377763DPYDc.1416T>A (p.Ser472Arg)
c.1305T>A (p.Ser435Arg)
c.921T>A (p.Ser307Arg)
 gnomAD v4
1g.97549669C>ACA341377764DPYDc.1415G>T (p.Ser472Ile)
c.1304G>T (p.Ser435Ile)
c.920G>T (p.Ser307Ile)
1g.97549669C=CA1182917429DPYDc.1415G= (p.Ser472=)
c.1304G= (p.Ser435=)
c.920G= (p.Ser307=)
1g.97549669C>GCA341377765DPYDc.1415G>C (p.Ser472Thr)
c.1304G>C (p.Ser435Thr)
c.920G>C (p.Ser307Thr)
 gnomAD v4
1g.97549669C>TCA963347DPYDc.1415G>A (p.Ser472Asn)
c.1304G>A (p.Ser435Asn)
c.920G>A (p.Ser307Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549670T>ACA341377768DPYDc.1414A>T (p.Ser472Cys)
c.1303A>T (p.Ser435Cys)
c.919A>T (p.Ser307Cys)
1g.97549670T>CCA341377767DPYDc.1414A>G (p.Ser472Gly)
c.1303A>G (p.Ser435Gly)
c.919A>G (p.Ser307Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.97549670T>GCA341377766DPYDc.1414A>C (p.Ser472Arg)
c.1303A>C (p.Ser435Arg)
c.919A>C (p.Ser307Arg)
1g.97549670T=CA1182917430DPYDc.1414A= (p.Ser472=)
c.1303A= (p.Ser435=)
c.919A= (p.Ser307=)
1g.97549671A>CCA419145334DPYDc.1413T>G (p.Thr471=)
c.1302T>G (p.Thr434=)
c.918T>G (p.Thr306=)
1g.97549671A>GCA419145336DPYDc.1413T>C (p.Thr471=)
c.1302T>C (p.Thr434=)
c.918T>C (p.Thr306=)
1g.97549671A>TCA419145337DPYDc.1413T>A (p.Thr471=)
c.1302T>A (p.Thr434=)
c.918T>A (p.Thr306=)
1g.97549671_97549672dupCA525177690DPYDc.1412_1413dup (p.Ser472LeufsTer23)
c.1301_1302dup (p.Ser435LeufsTer23)
c.917_918dup (p.Ser307LeufsTer23)
 dbSNP gnomAD v2 gnomAD v4
1g.97549672G>ACA341377769DPYDc.1412C>T (p.Thr471Ile)
c.1301C>T (p.Thr434Ile)
c.917C>T (p.Thr306Ile)
1g.97549672G>CCA341377770DPYDc.1412C>G (p.Thr471Ser)
c.1301C>G (p.Thr434Ser)
c.917C>G (p.Thr306Ser)
 dbSNP COSMIC
1g.97549672G=CA1182917431DPYDc.1412C= (p.Thr471=)
c.1301C= (p.Thr434=)
c.917C= (p.Thr306=)
1g.97549672G>TCA341377771DPYDc.1412C>A (p.Thr471Asn)
c.1301C>A (p.Thr434Asn)
c.917C>A (p.Thr306Asn)
1g.97549673T>ACA341377772DPYDc.1411A>T (p.Thr471Ser)
c.1300A>T (p.Thr434Ser)
c.916A>T (p.Thr306Ser)
1g.97549673T>CCA341377773DPYDc.1411A>G (p.Thr471Ala)
c.1300A>G (p.Thr434Ala)
c.916A>G (p.Thr306Ala)
1g.97549673T>GCA341377774DPYDc.1411A>C (p.Thr471Pro)
c.1300A>C (p.Thr434Pro)
c.916A>C (p.Thr306Pro)
1g.97549674T>ACA341377775DPYDc.1410A>T (p.Gln470His)
c.1299A>T (p.Gln433His)
c.915A>T (p.Gln305His)
1g.97549674T>CCA419145343DPYDc.1410A>G (p.Gln470=)
c.1299A>G (p.Gln433=)
c.915A>G (p.Gln305=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549674T>GCA341377776DPYDc.1410A>C (p.Gln470His)
c.1299A>C (p.Gln433His)
c.915A>C (p.Gln305His)
1g.97549674T=CA1182917432DPYDc.1410A= (p.Gln470=)
c.1299A= (p.Gln433=)
c.915A= (p.Gln305=)
1g.97549675T>ACA341377777DPYDc.1409A>T (p.Gln470Leu)
c.1298A>T (p.Gln433Leu)
c.914A>T (p.Gln305Leu)
1g.97549675T>CCA341377778DPYDc.1409A>G (p.Gln470Arg)
c.1298A>G (p.Gln433Arg)
c.914A>G (p.Gln305Arg)
1g.97549675T>GCA341377779DPYDc.1409A>C (p.Gln470Pro)
c.1298A>C (p.Gln433Pro)
c.914A>C (p.Gln305Pro)
1g.97549676G>ACA341377780DPYDc.1408C>T (p.Gln470Ter)
c.1297C>T (p.Gln433Ter)
c.913C>T (p.Gln305Ter)
 ClinVar
1g.97549676G>CCA341377781DPYDc.1408C>G (p.Gln470Glu)
c.1297C>G (p.Gln433Glu)
c.913C>G (p.Gln305Glu)
1g.97549676G>TCA341377782DPYDc.1408C>A (p.Gln470Lys)
c.1297C>A (p.Gln433Lys)
c.913C>A (p.Gln305Lys)
1g.97549677C>ACA341377784DPYDc.1407G>T (p.Met469Ile)
c.1296G>T (p.Met432Ile)
c.912G>T (p.Met304Ile)
1g.97549677C=CA1182917433DPYDc.1407G= (p.Met469=)
c.1296G= (p.Met432=)
c.912G= (p.Met304=)
1g.97549677C>GCA341377785DPYDc.1407G>C (p.Met469Ile)
c.1296G>C (p.Met432Ile)
c.912G>C (p.Met304Ile)
1g.97549677C>TCA341377783DPYDc.1407G>A (p.Met469Ile)
c.1296G>A (p.Met432Ile)
c.912G>A (p.Met304Ile)
 dbSNP
1g.97549678A=CA1182917434DPYDc.1406T= (p.Met469=)
c.1295T= (p.Met432=)
c.911T= (p.Met304=)
1g.97549678A>CCA341377786DPYDc.1406T>G (p.Met469Arg)
c.1295T>G (p.Met432Arg)
c.911T>G (p.Met304Arg)
1g.97549678A>GCA963348DPYDc.1406T>C (p.Met469Thr)
c.1295T>C (p.Met432Thr)
c.911T>C (p.Met304Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549678A>TCA341377787DPYDc.1406T>A (p.Met469Lys)
c.1295T>A (p.Met432Lys)
c.911T>A (p.Met304Lys)
1g.97549679T>ACA341377788DPYDc.1405A>T (p.Met469Leu)
c.1294A>T (p.Met432Leu)
c.910A>T (p.Met304Leu)
 ClinVar gnomAD v4
1g.97549679T>CCA341377789DPYDc.1405A>G (p.Met469Val)
c.1294A>G (p.Met432Val)
c.910A>G (p.Met304Val)
 gnomAD v4
1g.97549679T>GCA341377790DPYDc.1405A>C (p.Met469Leu)
c.1294A>C (p.Met432Leu)
c.910A>C (p.Met304Leu)
1g.97549680A=CA1182917435DPYDc.1404T= (p.Thr468=)
c.1293T= (p.Thr431=)
c.909T= (p.Thr303=)
1g.97549680A>CCA419145346DPYDc.1404T>G (p.Thr468=)
c.1293T>G (p.Thr431=)
c.909T>G (p.Thr303=)
1g.97549680A>GCA419145347DPYDc.1404T>C (p.Thr468=)
c.1293T>C (p.Thr431=)
c.909T>C (p.Thr303=)
 dbSNP gnomAD v3 gnomAD v4
1g.97549680A>TCA419145348DPYDc.1404T>A (p.Thr468=)
c.1293T>A (p.Thr431=)
c.909T>A (p.Thr303=)
1g.97549681G>ACA341377792DPYDc.1403C>T (p.Thr468Ile)
c.1292C>T (p.Thr431Ile)
c.908C>T (p.Thr303Ile)
1g.97549681G>CCA341377791DPYDc.1403C>G (p.Thr468Ser)
c.1292C>G (p.Thr431Ser)
c.908C>G (p.Thr303Ser)
 gnomAD v4
1g.97549681G=CA1143359197DPYDc.1403C= (p.Thr468=)
c.1292C= (p.Thr431=)
c.908C= (p.Thr303=)
1g.97549681G>TCA963349DPYDc.1403C>A (p.Thr468Asn)
c.1292C>A (p.Thr431Asn)
c.908C>A (p.Thr303Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549682T>ACA341377793DPYDc.1402A>T (p.Thr468Ser)
c.1291A>T (p.Thr431Ser)
c.907A>T (p.Thr303Ser)
1g.97549682T>CCA341377794DPYDc.1402A>G (p.Thr468Ala)
c.1291A>G (p.Thr431Ala)
c.907A>G (p.Thr303Ala)
1g.97549682T>GCA341377795DPYDc.1402A>C (p.Thr468Pro)
c.1291A>C (p.Thr431Pro)
c.907A>C (p.Thr303Pro)
1g.97549683T>ACA27518022DPYDc.1401A>T (p.Glu467Asp)
c.1290A>T (p.Glu430Asp)
c.906A>T (p.Glu302Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549683T>CCA419145350DPYDc.1401A>G (p.Glu467=)
c.1290A>G (p.Glu430=)
c.906A>G (p.Glu302=)
1g.97549683T>GCA341377796DPYDc.1401A>C (p.Glu467Asp)
c.1290A>C (p.Glu430Asp)
c.906A>C (p.Glu302Asp)
1g.97549683T=CA1182917436DPYDc.1401A= (p.Glu467=)
c.1290A= (p.Glu430=)
c.906A= (p.Glu302=)
1g.97549684T>ACA341377797DPYDc.1400A>T (p.Glu467Val)
c.1289A>T (p.Glu430Val)
c.905A>T (p.Glu302Val)
1g.97549684T>CCA341377799DPYDc.1400A>G (p.Glu467Gly)
c.1289A>G (p.Glu430Gly)
c.905A>G (p.Glu302Gly)
1g.97549684T>GCA341377798DPYDc.1400A>C (p.Glu467Ala)
c.1289A>C (p.Glu430Ala)
c.905A>C (p.Glu302Ala)
1g.97549685C>ACA341377800DPYDc.1399G>T (p.Glu467Ter)
c.1288G>T (p.Glu430Ter)
c.904G>T (p.Glu302Ter)
 gnomAD v4
1g.97549685C>GCA341377801DPYDc.1399G>C (p.Glu467Gln)
c.1288G>C (p.Glu430Gln)
c.904G>C (p.Glu302Gln)
1g.97549685C>TCA341377802DPYDc.1399G>A (p.Glu467Lys)
c.1288G>A (p.Glu430Lys)
c.904G>A (p.Glu302Lys)
1g.97549686T>ACA419145358DPYDc.1398A>T (p.Pro466=)
c.1287A>T (p.Pro429=)
c.903A>T (p.Pro301=)
1g.97549686T>CCA419145356DPYDc.1398A>G (p.Pro466=)
c.1287A>G (p.Pro429=)
c.903A>G (p.Pro301=)
 gnomAD v4
1g.97549686T>GCA419145355DPYDc.1398A>C (p.Pro466=)
c.1287A>C (p.Pro429=)
c.903A>C (p.Pro301=)
1g.97549687G>ACA341377803DPYDc.1397C>T (p.Pro466Leu)
c.1286C>T (p.Pro429Leu)
c.902C>T (p.Pro301Leu)
1g.97549687G>CCA341377804DPYDc.1397C>G (p.Pro466Arg)
c.1286C>G (p.Pro429Arg)
c.902C>G (p.Pro301Arg)
1g.97549687G>TCA341377805DPYDc.1397C>A (p.Pro466Gln)
c.1286C>A (p.Pro429Gln)
c.902C>A (p.Pro301Gln)
1g.97549688G>ACA963350DPYDc.1396C>T (p.Pro466Ser)
c.1285C>T (p.Pro429Ser)
c.901C>T (p.Pro301Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549688G>CCA341377806DPYDc.1396C>G (p.Pro466Ala)
c.1285C>G (p.Pro429Ala)
c.901C>G (p.Pro301Ala)
1g.97549688G=CA1182917437DPYDc.1396C= (p.Pro466=)
c.1285C= (p.Pro429=)
c.901C= (p.Pro301=)
1g.97549688G>TCA341377807DPYDc.1396C>A (p.Pro466Thr)
c.1285C>A (p.Pro429Thr)
c.901C>A (p.Pro301Thr)
 gnomAD v4
1g.97549689A=CA1182917438DPYDc.1395T= (p.Asp465=)
c.1284T= (p.Asp428=)
c.900T= (p.Asp300=)
1g.97549689A>CCA341377808DPYDc.1395T>G (p.Asp465Glu)
c.1284T>G (p.Asp428Glu)
c.900T>G (p.Asp300Glu)
1g.97549689A>GCA419145359DPYDc.1395T>C (p.Asp465=)
c.1284T>C (p.Asp428=)
c.900T>C (p.Asp300=)
 gnomAD v4
1g.97549689A>TCA341377809DPYDc.1395T>A (p.Asp465Glu)
c.1284T>A (p.Asp428Glu)
c.900T>A (p.Asp300Glu)
 dbSNP
1g.97549690T>ACA341377812DPYDc.1394A>T (p.Asp465Val)
c.1283A>T (p.Asp428Val)
c.899A>T (p.Asp300Val)
1g.97549690T>CCA341377810DPYDc.1394A>G (p.Asp465Gly)
c.1283A>G (p.Asp428Gly)
c.899A>G (p.Asp300Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549690T>GCA341377811DPYDc.1394A>C (p.Asp465Ala)
c.1283A>C (p.Asp428Ala)
c.899A>C (p.Asp300Ala)
1g.97549690T=CA1182917439DPYDc.1394A= (p.Asp465=)
c.1283A= (p.Asp428=)
c.899A= (p.Asp300=)
1g.97549691C>ACA341377813DPYDc.1393G>T (p.Asp465Tyr)
c.1282G>T (p.Asp428Tyr)
c.898G>T (p.Asp300Tyr)
1g.97549691C>GCA341377815DPYDc.1393G>C (p.Asp465His)
c.1282G>C (p.Asp428His)
c.898G>C (p.Asp300His)
1g.97549691C>TCA341377814DPYDc.1393G>A (p.Asp465Asn)
c.1282G>A (p.Asp428Asn)
c.898G>A (p.Asp300Asn)
1g.97549693_97549695delCA2574442273DPYDc.1391_1393del (p.Val464del)
c.1280_1282del (p.Val427del)
c.896_898del (p.Val299del)
1g.97549692T>ACA419145363DPYDc.1392A>T (p.Val464=)
c.1281A>T (p.Val427=)
c.897A>T (p.Val299=)
1g.97549692T>CCA963351DPYDc.1392A>G (p.Val464=)
c.1281A>G (p.Val427=)
c.897A>G (p.Val299=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549692T>GCA419145365DPYDc.1392A>C (p.Val464=)
c.1281A>C (p.Val427=)
c.897A>C (p.Val299=)
1g.97549692T=CA1143947188DPYDc.1392A= (p.Val464=)
c.1281A= (p.Val427=)
c.897A= (p.Val299=)
1g.97549693A=CA1143747568DPYDc.1391T= (p.Val464=)
c.1280T= (p.Val427=)
c.896T= (p.Val299=)
1g.97549693A>CCA341377816DPYDc.1391T>G (p.Val464Gly)
c.1280T>G (p.Val427Gly)
c.896T>G (p.Val299Gly)
1g.97549693A>GCA27518027DPYDc.1391T>C (p.Val464Ala)
c.1280T>C (p.Val427Ala)
c.896T>C (p.Val299Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.97549693A>TCA341377817DPYDc.1391T>A (p.Val464Glu)
c.1280T>A (p.Val427Glu)
c.896T>A (p.Val299Glu)
1g.97549694C>ACA341377818DPYDc.1390G>T (p.Val464Leu)
c.1279G>T (p.Val427Leu)
c.895G>T (p.Val299Leu)
1g.97549694C=CA1182917440DPYDc.1390G= (p.Val464=)
c.1279G= (p.Val427=)
c.895G= (p.Val299=)
1g.97549694C>GCA341377819DPYDc.1390G>C (p.Val464Leu)
c.1279G>C (p.Val427Leu)
c.895G>C (p.Val299Leu)
1g.97549694C>TCA27518032DPYDc.1390G>A (p.Val464Ile)
c.1279G>A (p.Val427Ile)
c.895G>A (p.Val299Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97549695T>ACA341377820DPYDc.1389A>T (p.Glu463Asp)
c.1278A>T (p.Glu426Asp)
c.894A>T (p.Glu298Asp)
1g.97549695T>CCA419145368DPYDc.1389A>G (p.Glu463=)
c.1278A>G (p.Glu426=)
c.894A>G (p.Glu298=)
1g.97549695T>GCA341377821DPYDc.1389A>C (p.Glu463Asp)
c.1278A>C (p.Glu426Asp)
c.894A>C (p.Glu298Asp)
1g.97549695_97549709delinsTTCTGGGAGACCCCACA1182917441DPYDc.1375_1389delinsTGGGGTCTCCCAGAA (p.Trp459=)
c.1264_1278delinsTGGGGTCTCCCAGAA (p.Trp422=)
c.880_894delinsTGGGGTCTCCCAGAA (p.Trp294=)
1g.97549696T>ACA341377823DPYDc.1388A>T (p.Glu463Val)
c.1277A>T (p.Glu426Val)
c.893A>T (p.Glu298Val)
 gnomAD v4
1g.97549696T>CCA27518038DPYDc.1388A>G (p.Glu463Gly)
c.1277A>G (p.Glu426Gly)
c.893A>G (p.Glu298Gly)
 dbSNP gnomAD v4
1g.97549696T>GCA341377822DPYDc.1388A>C (p.Glu463Ala)
c.1277A>C (p.Glu426Ala)
c.893A>C (p.Glu298Ala)
1g.97549696T=CA1182917442DPYDc.1388A= (p.Glu463=)
c.1277A= (p.Glu426=)
c.893A= (p.Glu298=)
1g.97549700_97549713delCA963352DPYDc.1375_1388del (p.Trp459SerfsTer9)
c.1264_1277del (p.Trp422SerfsTer9)
c.880_893del (p.Trp294SerfsTer9)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549697C>ACA341377824DPYDc.1387G>T (p.Glu463Ter)
c.1276G>T (p.Glu426Ter)
c.892G>T (p.Glu298Ter)
1g.97549697C=CA1182917443DPYDc.1387G= (p.Glu463=)
c.1276G= (p.Glu426=)
c.892G= (p.Glu298=)
1g.97549697C>GCA341377825DPYDc.1387G>C (p.Glu463Gln)
c.1276G>C (p.Glu426Gln)
c.892G>C (p.Glu298Gln)
 dbSNP gnomAD v4
1g.97549697C>TCA341377826DPYDc.1387G>A (p.Glu463Lys)
c.1276G>A (p.Glu426Lys)
c.892G>A (p.Glu298Lys)
 gnomAD v4
1g.97549697_97549698delinsCTCA1182917444DPYDc.1386_1387delinsAG (p.Pro462=)
c.1275_1276delinsAG (p.Pro425=)
c.891_892delinsAG (p.Pro297=)
1g.97549698delCA740795856DPYDc.1386del (p.Glu463LysfsTer2)
c.1275del (p.Glu426LysfsTer2)
c.891del (p.Glu298LysfsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.97549698T>ACA419145370DPYDc.1386A>T (p.Pro462=)
c.1275A>T (p.Pro425=)
c.891A>T (p.Pro297=)
 COSMIC
1g.97549698T>CCA419145372DPYDc.1386A>G (p.Pro462=)
c.1275A>G (p.Pro425=)
c.891A>G (p.Pro297=)
 gnomAD v4
1g.97549698T>GCA419145374DPYDc.1386A>C (p.Pro462=)
c.1275A>C (p.Pro425=)
c.891A>C (p.Pro297=)
 COSMIC
1g.97549699G>ACA341377827DPYDc.1385C>T (p.Pro462Leu)
c.1274C>T (p.Pro425Leu)
c.890C>T (p.Pro297Leu)
1g.97549699G>CCA341377828DPYDc.1385C>G (p.Pro462Arg)
c.1274C>G (p.Pro425Arg)
c.890C>G (p.Pro297Arg)
1g.97549699G>TCA341377829DPYDc.1385C>A (p.Pro462Gln)
c.1274C>A (p.Pro425Gln)
c.890C>A (p.Pro297Gln)
1g.97549700G>ACA341377830DPYDc.1384C>T (p.Pro462Ser)
c.1273C>T (p.Pro425Ser)
c.889C>T (p.Pro297Ser)
1g.97549700G>CCA341377831DPYDc.1384C>G (p.Pro462Ala)
c.1273C>G (p.Pro425Ala)
c.889C>G (p.Pro297Ala)
1g.97549700G>TCA341377832DPYDc.1384C>A (p.Pro462Thr)
c.1273C>A (p.Pro425Thr)
c.889C>A (p.Pro297Thr)
1g.97549701G>ACA419145376DPYDc.1383C>T (p.Leu461=)
c.1272C>T (p.Leu424=)
c.888C>T (p.Leu296=)
 ClinVar gnomAD v4
1g.97549701G>CCA419145377DPYDc.1383C>G (p.Leu461=)
c.1272C>G (p.Leu424=)
c.888C>G (p.Leu296=)
1g.97549701G>TCA419145379DPYDc.1383C>A (p.Leu461=)
c.1272C>A (p.Leu424=)
c.888C>A (p.Leu296=)
1g.97549702A=CA1182917445DPYDc.1382T= (p.Leu461=)
c.1271T= (p.Leu424=)
c.887T= (p.Leu296=)
1g.97549702A>CCA341377833DPYDc.1382T>G (p.Leu461Arg)
c.1271T>G (p.Leu424Arg)
c.887T>G (p.Leu296Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.97549702A>GCA341377834DPYDc.1382T>C (p.Leu461Pro)
c.1271T>C (p.Leu424Pro)
c.887T>C (p.Leu296Pro)
1g.97549702A>TCA341377835DPYDc.1382T>A (p.Leu461His)
c.1271T>A (p.Leu424His)
c.887T>A (p.Leu296His)
1g.97549703G>ACA341377838DPYDc.1381C>T (p.Leu461Phe)
c.1270C>T (p.Leu424Phe)
c.886C>T (p.Leu296Phe)
1g.97549703G>CCA341377837DPYDc.1381C>G (p.Leu461Val)
c.1270C>G (p.Leu424Val)
c.886C>G (p.Leu296Val)
1g.97549703G>TCA341377836DPYDc.1381C>A (p.Leu461Ile)
c.1270C>A (p.Leu424Ile)
c.886C>A (p.Leu296Ile)
 COSMIC
1g.97549704A=CA1182917446DPYDc.1380T= (p.Gly460=)
c.1269T= (p.Gly423=)
c.885T= (p.Gly295=)
1g.97549704A>CCA419145380DPYDc.1380T>G (p.Gly460=)
c.1269T>G (p.Gly423=)
c.885T>G (p.Gly295=)
1g.97549704A>GCA419145382DPYDc.1380T>C (p.Gly460=)
c.1269T>C (p.Gly423=)
c.885T>C (p.Gly295=)
1g.97549704A>TCA419145383DPYDc.1380T>A (p.Gly460=)
c.1269T>A (p.Gly423=)
c.885T>A (p.Gly295=)
1g.97549705C>ACA341377839DPYDc.1379G>T (p.Gly460Val)
c.1268G>T (p.Gly423Val)
c.884G>T (p.Gly295Val)
 gnomAD v4
1g.97549705C=CA1182917447DPYDc.1379G= (p.Gly460=)
c.1268G= (p.Gly423=)
c.884G= (p.Gly295=)
1g.97549705C>GCA341377840DPYDc.1379G>C (p.Gly460Ala)
c.1268G>C (p.Gly423Ala)
c.884G>C (p.Gly295Ala)
1g.97549705C>TCA341377841DPYDc.1379G>A (p.Gly460Asp)
c.1268G>A (p.Gly423Asp)
c.884G>A (p.Gly295Asp)
 dbSNP gnomAD v4
1g.97549708dupCA963353DPYDc.1379dup (p.Leu461SerfsTer12)
c.1268dup (p.Leu424SerfsTer12)
c.884dup (p.Leu296SerfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549706C>ACA341377842DPYDc.1378G>T (p.Gly460Cys)
c.1267G>T (p.Gly423Cys)
c.883G>T (p.Gly295Cys)
 gnomAD v4
1g.97549706C=CA1182917448DPYDc.1378G= (p.Gly460=)
c.1267G= (p.Gly423=)
c.883G= (p.Gly295=)
1g.97549706C>GCA341377843DPYDc.1378G>C (p.Gly460Arg)
c.1267G>C (p.Gly423Arg)
c.883G>C (p.Gly295Arg)
1g.97549706C>TCA341377844DPYDc.1378G>A (p.Gly460Ser)
c.1267G>A (p.Gly423Ser)
c.883G>A (p.Gly295Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97549707C>ACA341377845DPYDc.1377G>T (p.Trp459Cys)
c.1266G>T (p.Trp422Cys)
c.882G>T (p.Trp294Cys)
1g.97549707C>GCA341377846DPYDc.1377G>C (p.Trp459Cys)
c.1266G>C (p.Trp422Cys)
c.882G>C (p.Trp294Cys)
1g.97549707C>TCA341377847DPYDc.1377G>A (p.Trp459Ter)
c.1266G>A (p.Trp422Ter)
c.882G>A (p.Trp294Ter)
 gnomAD v4
1g.97549708C>ACA341377848DPYDc.1376G>T (p.Trp459Leu)
c.1265G>T (p.Trp422Leu)
c.881G>T (p.Trp294Leu)
1g.97549708C>GCA341377849DPYDc.1376G>C (p.Trp459Ser)
c.1265G>C (p.Trp422Ser)
c.881G>C (p.Trp294Ser)
1g.97549708C>TCA341377850DPYDc.1376G>A (p.Trp459Ter)
c.1265G>A (p.Trp422Ter)
c.881G>A (p.Trp294Ter)
1g.97549709A>CCA341377853DPYDc.1375T>G (p.Trp459Gly)
c.1264T>G (p.Trp422Gly)
c.880T>G (p.Trp294Gly)
1g.97549709A>GCA341377852DPYDc.1375T>C (p.Trp459Arg)
c.1264T>C (p.Trp422Arg)
c.880T>C (p.Trp294Arg)
1g.97549709A>TCA341377851DPYDc.1375T>A (p.Trp459Arg)
c.1264T>A (p.Trp422Arg)
c.880T>A (p.Trp294Arg)
1g.97549710T>ACA341377854DPYDc.1374A>T (p.Arg458Ser)
c.1263A>T (p.Arg421Ser)
c.879A>T (p.Arg293Ser)
1g.97549710T>CCA419145415DPYDc.1374A>G (p.Arg458=)
c.1263A>G (p.Arg421=)
c.879A>G (p.Arg293=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549710T>GCA341377855DPYDc.1374A>C (p.Arg458Ser)
c.1263A>C (p.Arg421Ser)
c.879A>C (p.Arg293Ser)
1g.97549710T=CA1182917449DPYDc.1374A= (p.Arg458=)
c.1263A= (p.Arg421=)
c.879A= (p.Arg293=)
1g.97549710dupCA2646706233DPYDc.1374dup (p.Trp459MetfsTer14)
c.1263dup (p.Trp422MetfsTer14)
c.879dup (p.Trp294MetfsTer14)
 gnomAD v4
1g.97549711C>ACA341377856DPYDc.1373G>T (p.Arg458Ile)
c.1262G>T (p.Arg421Ile)
c.878G>T (p.Arg293Ile)
1g.97549711C=CA1182917450DPYDc.1373G= (p.Arg458=)
c.1262G= (p.Arg421=)
c.878G= (p.Arg293=)
1g.97549711C>GCA341377857DPYDc.1373G>C (p.Arg458Thr)
c.1262G>C (p.Arg421Thr)
c.878G>C (p.Arg293Thr)
1g.97549711C>TCA341377858DPYDc.1373G>A (p.Arg458Lys)
c.1262G>A (p.Arg421Lys)
c.878G>A (p.Arg293Lys)
 dbSNP COSMIC
1g.97549712T>ACA341377859DPYDc.1372A>T (p.Arg458Ter)
c.1261A>T (p.Arg421Ter)
c.877A>T (p.Arg293Ter)
1g.97549712T>CCA341377860DPYDc.1372A>G (p.Arg458Gly)
c.1261A>G (p.Arg421Gly)
c.877A>G (p.Arg293Gly)
1g.97549712T>GCA419145426DPYDc.1372A>C (p.Arg458=)
c.1261A>C (p.Arg421=)
c.877A>C (p.Arg293=)
1g.97549713G>ACA228131DPYDc.1371C>T (p.Asn457=)
c.1260C>T (p.Asn420=)
c.876C>T (p.Asn292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549713G>CCA341377861DPYDc.1371C>G (p.Asn457Lys)
c.1260C>G (p.Asn420Lys)
c.876C>G (p.Asn292Lys)
1g.97549713G=CA1140664753DPYDc.1371C= (p.Asn457=)
c.1260C= (p.Asn420=)
c.876C= (p.Asn292=)
1g.97549713G>TCA341377862DPYDc.1371C>A (p.Asn457Lys)
c.1260C>A (p.Asn420Lys)
c.876C>A (p.Asn292Lys)
1g.97549714T>ACA341377863DPYDc.1370A>T (p.Asn457Ile)
c.1259A>T (p.Asn420Ile)
c.875A>T (p.Asn292Ile)
1g.97549714T>CCA341377864DPYDc.1370A>G (p.Asn457Ser)
c.1259A>G (p.Asn420Ser)
c.875A>G (p.Asn292Ser)
1g.97549714T>GCA341377865DPYDc.1370A>C (p.Asn457Thr)
c.1259A>C (p.Asn420Thr)
c.875A>C (p.Asn292Thr)
1g.97549715T>ACA341377867DPYDc.1369A>T (p.Asn457Tyr)
c.1258A>T (p.Asn420Tyr)
c.874A>T (p.Asn292Tyr)
 COSMIC
1g.97549715T>CCA963354DPYDc.1369A>G (p.Asn457Asp)
c.1258A>G (p.Asn420Asp)
c.874A>G (p.Asn292Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549715T>GCA341377866DPYDc.1369A>C (p.Asn457His)
c.1258A>C (p.Asn420His)
c.874A>C (p.Asn292His)
1g.97549715T=CA1182917451DPYDc.1369A= (p.Asn457=)
c.1258A= (p.Asn420=)
c.874A= (p.Asn292=)
1g.97549716A>CCA341377868DPYDc.1368T>G (p.Phe456Leu)
c.1257T>G (p.Phe419Leu)
c.873T>G (p.Phe291Leu)
1g.97549716A>GCA419145451DPYDc.1368T>C (p.Phe456=)
c.1257T>C (p.Phe419=)
c.873T>C (p.Phe291=)
1g.97549716A>TCA341377869DPYDc.1368T>A (p.Phe456Leu)
c.1257T>A (p.Phe419Leu)
c.873T>A (p.Phe291Leu)
1g.97549717A>CCA341377870DPYDc.1367T>G (p.Phe456Cys)
c.1256T>G (p.Phe419Cys)
c.872T>G (p.Phe291Cys)
1g.97549717A>GCA341377871DPYDc.1367T>C (p.Phe456Ser)
c.1256T>C (p.Phe419Ser)
c.872T>C (p.Phe291Ser)
 gnomAD v4
1g.97549717A>TCA341377872DPYDc.1367T>A (p.Phe456Tyr)
c.1256T>A (p.Phe419Tyr)
c.872T>A (p.Phe291Tyr)
1g.97549718A>CCA341377873DPYDc.1366T>G (p.Phe456Val)
c.1255T>G (p.Phe419Val)
c.871T>G (p.Phe291Val)
 gnomAD v4
1g.97549718A>GCA341377874DPYDc.1366T>C (p.Phe456Leu)
c.1255T>C (p.Phe419Leu)
c.871T>C (p.Phe291Leu)
1g.97549718A>TCA341377875DPYDc.1366T>A (p.Phe456Ile)
c.1255T>A (p.Phe419Ile)
c.871T>A (p.Phe291Ile)
1g.97549719T>ACA341377876DPYDc.1365A>T (p.Lys455Asn)
c.1254A>T (p.Lys418Asn)
c.870A>T (p.Lys290Asn)
1g.97549719T>CCA419145470DPYDc.1365A>G (p.Lys455=)
c.1254A>G (p.Lys418=)
c.870A>G (p.Lys290=)
 dbSNP
1g.97549719T>GCA341377877DPYDc.1365A>C (p.Lys455Asn)
c.1254A>C (p.Lys418Asn)
c.870A>C (p.Lys290Asn)
1g.97549719T=CA1182917452DPYDc.1365A= (p.Lys455=)
c.1254A= (p.Lys418=)
c.870A= (p.Lys290=)
1g.97549720T>ACA341377878DPYDc.1364A>T (p.Lys455Ile)
c.1253A>T (p.Lys418Ile)
c.869A>T (p.Lys290Ile)
1g.97549720T>CCA341377879DPYDc.1364A>G (p.Lys455Arg)
c.1253A>G (p.Lys418Arg)
c.869A>G (p.Lys290Arg)
1g.97549720T>GCA341377880DPYDc.1364A>C (p.Lys455Thr)
c.1253A>C (p.Lys418Thr)
c.869A>C (p.Lys290Thr)
1g.97549721T>ACA341377881DPYDc.1363A>T (p.Lys455Ter)
c.1252A>T (p.Lys418Ter)
c.868A>T (p.Lys290Ter)
1g.97549721T>CCA341377882DPYDc.1363A>G (p.Lys455Glu)
c.1252A>G (p.Lys418Glu)
c.868A>G (p.Lys290Glu)
1g.97549721T>GCA341377883DPYDc.1363A>C (p.Lys455Gln)
c.1252A>C (p.Lys418Gln)
c.868A>C (p.Lys290Gln)
1g.97549722T>ACA419145489DPYDc.1362A>T (p.Ile454=)
c.1251A>T (p.Ile417=)
c.867A>T (p.Ile289=)
1g.97549722T>CCA341377884DPYDc.1362A>G (p.Ile454Met)
c.1251A>G (p.Ile417Met)
c.867A>G (p.Ile289Met)
1g.97549722T>GCA419145493DPYDc.1362A>C (p.Ile454=)
c.1251A>C (p.Ile417=)
c.867A>C (p.Ile289=)
1g.97549723A>CCA341377885DPYDc.1361T>G (p.Ile454Arg)
c.1250T>G (p.Ile417Arg)
c.866T>G (p.Ile289Arg)
1g.97549723A>GCA341377886DPYDc.1361T>C (p.Ile454Thr)
c.1250T>C (p.Ile417Thr)
c.866T>C (p.Ile289Thr)
1g.97549723A>TCA341377887DPYDc.1361T>A (p.Ile454Lys)
c.1250T>A (p.Ile417Lys)
c.866T>A (p.Ile289Lys)
1g.97549724T>ACA341377888DPYDc.1360A>T (p.Ile454Leu)
c.1249A>T (p.Ile417Leu)
c.865A>T (p.Ile289Leu)
1g.97549724T>CCA27518080DPYDc.1360A>G (p.Ile454Val)
c.1249A>G (p.Ile417Val)
c.865A>G (p.Ile289Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549724T>GCA341377889DPYDc.1360A>C (p.Ile454Leu)
c.1249A>C (p.Ile417Leu)
c.865A>C (p.Ile289Leu)
1g.97549724T=CA1182917453DPYDc.1360A= (p.Ile454=)
c.1249A= (p.Ile417=)
c.865A= (p.Ile289=)
1g.97549724_97549731dupCA2695198073DPYDc.1353_1360dup (p.Ile454ArgfsTer4)
c.1242_1249dup (p.Ile417ArgfsTer4)
c.858_865dup (p.Ile289ArgfsTer4)
 ClinVar
1g.97549725A>CCA419145507DPYDc.1359T>G (p.Pro453=)
c.1248T>G (p.Pro416=)
c.864T>G (p.Pro288=)
1g.97549725A>GCA419145509DPYDc.1359T>C (p.Pro453=)
c.1248T>C (p.Pro416=)
c.864T>C (p.Pro288=)
1g.97549725A>TCA419145511DPYDc.1359T>A (p.Pro453=)
c.1248T>A (p.Pro416=)
c.864T>A (p.Pro288=)
1g.97549726G>ACA341377890DPYDc.1358C>T (p.Pro453Leu)
c.1247C>T (p.Pro416Leu)
c.863C>T (p.Pro288Leu)
 gnomAD v4
1g.97549726G>CCA228134DPYDc.1358C>G (p.Pro453Arg)
c.1247C>G (p.Pro416Arg)
c.863C>G (p.Pro288Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549726G=CA1141988888DPYDc.1358C= (p.Pro453=)
c.1247C= (p.Pro416=)
c.863C= (p.Pro288=)
1g.97549726G>TCA963355DPYDc.1358C>A (p.Pro453His)
c.1247C>A (p.Pro416His)
c.863C>A (p.Pro288His)
 dbSNP ExAC gnomAD v4
1g.97549727G>ACA963356DPYDc.1357C>T (p.Pro453Ser)
c.1246C>T (p.Pro416Ser)
c.862C>T (p.Pro288Ser)
 dbSNP ExAC gnomAD v2
1g.97549727G>CCA341377891DPYDc.1357C>G (p.Pro453Ala)
c.1246C>G (p.Pro416Ala)
c.862C>G (p.Pro288Ala)
1g.97549727G=CA1182917454DPYDc.1357C= (p.Pro453=)
c.1246C= (p.Pro416=)
c.862C= (p.Pro288=)
1g.97549727G>TCA341377892DPYDc.1357C>A (p.Pro453Thr)
c.1246C>A (p.Pro416Thr)
c.862C>A (p.Pro288Thr)
1g.97549728G>ACA419145531DPYDc.1356C>T (p.Ser452=)
c.1245C>T (p.Ser415=)
c.861C>T (p.Ser287=)
1g.97549728G>CCA341377893DPYDc.1356C>G (p.Ser452Arg)
c.1245C>G (p.Ser415Arg)
c.861C>G (p.Ser287Arg)
1g.97549728G>TCA341377894DPYDc.1356C>A (p.Ser452Arg)
c.1245C>A (p.Ser415Arg)
c.861C>A (p.Ser287Arg)
1g.97549729C>ACA341377895DPYDc.1355G>T (p.Ser452Ile)
c.1244G>T (p.Ser415Ile)
c.860G>T (p.Ser287Ile)
1g.97549729C=CA1182917455DPYDc.1355G= (p.Ser452=)
c.1244G= (p.Ser415=)
c.860G= (p.Ser287=)
1g.97549729C>GCA341377897DPYDc.1355G>C (p.Ser452Thr)
c.1244G>C (p.Ser415Thr)
c.860G>C (p.Ser287Thr)
1g.97549729C>TCA341377896DPYDc.1355G>A (p.Ser452Asn)
c.1244G>A (p.Ser415Asn)
c.860G>A (p.Ser287Asn)
 ClinVar dbSNP gnomAD v4
1g.97549729_97549730insATATAAGGGGGAACA2646706234DPYDc.1354_1355insTTCCCCCTTATAT (p.Ser452IlefsTer10)
c.1243_1244insTTCCCCCTTATAT (p.Ser415IlefsTer10)
c.859_860insTTCCCCCTTATAT (p.Ser287IlefsTer10)
 gnomAD v4
1g.97549730T>ACA341377898DPYDc.1354A>T (p.Ser452Cys)
c.1243A>T (p.Ser415Cys)
c.859A>T (p.Ser287Cys)
1g.97549730T>CCA341377899DPYDc.1354A>G (p.Ser452Gly)
c.1243A>G (p.Ser415Gly)
c.859A>G (p.Ser287Gly)
1g.97549730T>GCA341377900DPYDc.1354A>C (p.Ser452Arg)
c.1243A>C (p.Ser415Arg)
c.859A>C (p.Ser287Arg)
1g.97549731C>ACA341377901DPYDc.1353G>T (p.Leu451Phe)
c.1242G>T (p.Leu414Phe)
c.858G>T (p.Leu286Phe)
1g.97549731C=CA1182917456DPYDc.1353G= (p.Leu451=)
c.1242G= (p.Leu414=)
c.858G= (p.Leu286=)
1g.97549731C>GCA341377902DPYDc.1353G>C (p.Leu451Phe)
c.1242G>C (p.Leu414Phe)
c.858G>C (p.Leu286Phe)
1g.97549731C>TCA419145548DPYDc.1353G>A (p.Leu451=)
c.1242G>A (p.Leu414=)
c.858G>A (p.Leu286=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549732A>CCA341377903DPYDc.1352T>G (p.Leu451Trp)
c.1241T>G (p.Leu414Trp)
c.857T>G (p.Leu286Trp)
1g.97549732A>GCA341377904DPYDc.1352T>C (p.Leu451Ser)
c.1241T>C (p.Leu414Ser)
c.857T>C (p.Leu286Ser)
1g.97549732A>TCA341377905DPYDc.1352T>A (p.Leu451Ter)
c.1241T>A (p.Leu414Ter)
c.857T>A (p.Leu286Ter)
1g.97549733A=CA1182917457DPYDc.1351T= (p.Leu451=)
c.1240T= (p.Leu414=)
c.856T= (p.Leu286=)
1g.97549733A>CCA341377906DPYDc.1351T>G (p.Leu451Val)
c.1240T>G (p.Leu414Val)
c.856T>G (p.Leu286Val)
1g.97549733A>GCA419145559DPYDc.1351T>C (p.Leu451=)
c.1240T>C (p.Leu414=)
c.856T>C (p.Leu286=)
 dbSNP
1g.97549733A>TCA341377907DPYDc.1351T>A (p.Leu451Met)
c.1240T>A (p.Leu414Met)
c.856T>A (p.Leu286Met)
1g.97549734G>ACA419145563DPYDc.1350C>T (p.Ala450=)
c.1239C>T (p.Ala413=)
c.855C>T (p.Ala285=)
1g.97549734G>CCA419145567DPYDc.1350C>G (p.Ala450=)
c.1239C>G (p.Ala413=)
c.855C>G (p.Ala285=)
1g.97549734G>TCA419145565DPYDc.1350C>A (p.Ala450=)
c.1239C>A (p.Ala413=)
c.855C>A (p.Ala285=)
1g.97549735G>ACA963357DPYDc.1349C>T (p.Ala450Val)
c.1238C>T (p.Ala413Val)
c.854C>T (p.Ala285Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549735G>CCA963358DPYDc.1349C>G (p.Ala450Gly)
c.1238C>G (p.Ala413Gly)
c.854C>G (p.Ala285Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549735G=CA1140840609DPYDc.1349C= (p.Ala450=)
c.1238C= (p.Ala413=)
c.854C= (p.Ala285=)
1g.97549735G>TCA341377908DPYDc.1349C>A (p.Ala450Asp)
c.1238C>A (p.Ala413Asp)
c.854C>A (p.Ala285Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549736C>ACA341377911DPYDc.1348G>T (p.Ala450Ser)
c.1237G>T (p.Ala413Ser)
c.853G>T (p.Ala285Ser)
 gnomAD v4
1g.97549736C=CA1182917458DPYDc.1348G= (p.Ala450=)
c.1237G= (p.Ala413=)
c.853G= (p.Ala285=)
1g.97549736C>GCA341377909DPYDc.1348G>C (p.Ala450Pro)
c.1237G>C (p.Ala413Pro)
c.853G>C (p.Ala285Pro)
1g.97549736C>TCA341377910DPYDc.1348G>A (p.Ala450Thr)
c.1237G>A (p.Ala413Thr)
c.853G>A (p.Ala285Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.97549737T>ACA341377912DPYDc.1347A>T (p.Glu449Asp)
c.1236A>T (p.Glu412Asp)
c.852A>T (p.Glu284Asp)
1g.97549737T>CCA419145585DPYDc.1347A>G (p.Glu449=)
c.1236A>G (p.Glu412=)
c.852A>G (p.Glu284=)
1g.97549737T>GCA341377913DPYDc.1347A>C (p.Glu449Asp)
c.1236A>C (p.Glu412Asp)
c.852A>C (p.Glu284Asp)
1g.97549738T>ACA341377914DPYDc.1346A>T (p.Glu449Val)
c.1235A>T (p.Glu412Val)
c.851A>T (p.Glu284Val)
1g.97549738T>CCA341377915DPYDc.1346A>G (p.Glu449Gly)
c.1235A>G (p.Glu412Gly)
c.851A>G (p.Glu284Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549738T>GCA341377916DPYDc.1346A>C (p.Glu449Ala)
c.1235A>C (p.Glu412Ala)
c.851A>C (p.Glu284Ala)
1g.97549738T=CA1182917459DPYDc.1346A= (p.Glu449=)
c.1235A= (p.Glu412=)
c.851A= (p.Glu284=)
1g.97549739C>ACA341377917DPYDc.1345G>T (p.Glu449Ter)
c.1234G>T (p.Glu412Ter)
c.850G>T (p.Glu284Ter)
1g.97549739C>GCA341377918DPYDc.1345G>C (p.Glu449Gln)
c.1234G>C (p.Glu412Gln)
c.850G>C (p.Glu284Gln)
1g.97549739C>TCA341377919DPYDc.1345G>A (p.Glu449Lys)
c.1234G>A (p.Glu412Lys)
c.850G>A (p.Glu284Lys)
1g.97549740T>ACA341377920DPYDc.1344A>T (p.Lys448Asn)
c.1233A>T (p.Lys411Asn)
c.849A>T (p.Lys283Asn)
1g.97549740T>CCA963359DPYDc.1344A>G (p.Lys448=)
c.1233A>G (p.Lys411=)
c.849A>G (p.Lys283=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549740T>GCA341377921DPYDc.1344A>C (p.Lys448Asn)
c.1233A>C (p.Lys411Asn)
c.849A>C (p.Lys283Asn)
 COSMIC
1g.97549740T=CA1182917460DPYDc.1344A= (p.Lys448=)
c.1233A= (p.Lys411=)
c.849A= (p.Lys283=)
1g.97549741T>ACA341377922DPYDc.1343A>T (p.Lys448Ile)
c.1232A>T (p.Lys411Ile)
c.848A>T (p.Lys283Ile)
1g.97549741T>CCA341377924DPYDc.1343A>G (p.Lys448Arg)
c.1232A>G (p.Lys411Arg)
c.848A>G (p.Lys283Arg)
1g.97549741T>GCA341377923DPYDc.1343A>C (p.Lys448Thr)
c.1232A>C (p.Lys411Thr)
c.848A>C (p.Lys283Thr)
1g.97549742T>ACA341377925DPYDc.1342A>T (p.Lys448Ter)
c.1231A>T (p.Lys411Ter)
c.847A>T (p.Lys283Ter)
1g.97549742T>CCA27518122DPYDc.1342A>G (p.Lys448Glu)
c.1231A>G (p.Lys411Glu)
c.847A>G (p.Lys283Glu)
 dbSNP gnomAD v4
1g.97549742T>GCA341377926DPYDc.1342A>C (p.Lys448Gln)
c.1231A>C (p.Lys411Gln)
c.847A>C (p.Lys283Gln)
1g.97549742T=CA1182917461DPYDc.1342A= (p.Lys448=)
c.1231A= (p.Lys411=)
c.847A= (p.Lys283=)
1g.97549743T>ACA419145619DPYDc.1341A>T (p.Val447=)
c.1230A>T (p.Val410=)
c.846A>T (p.Val282=)
1g.97549743T>CCA419145615DPYDc.1341A>G (p.Val447=)
c.1230A>G (p.Val410=)
c.846A>G (p.Val282=)
 gnomAD v4
1g.97549743T>GCA419145617DPYDc.1341A>C (p.Val447=)
c.1230A>C (p.Val410=)
c.846A>C (p.Val282=)
1g.97549744A>CCA341377927DPYDc.1340T>G (p.Val447Gly)
c.1229T>G (p.Val410Gly)
c.845T>G (p.Val282Gly)
1g.97549744A>GCA341377928DPYDc.1340T>C (p.Val447Ala)
c.1229T>C (p.Val410Ala)
c.845T>C (p.Val282Ala)
1g.97549744A>TCA341377929DPYDc.1340T>A (p.Val447Glu)
c.1229T>A (p.Val410Glu)
c.845T>A (p.Val282Glu)
1g.97549745C>ACA341377930DPYDc.1340-1G>T (n.1340-1G>T)
c.1229-1G>T (n.1229-1G>T)
c.845-1G>T (n.845-1G>T)
1g.97549745C=CA1182917462DPYDc.1340-1G= (n.1340-1G=)
c.1229-1G= (n.1229-1G=)
c.845-1G= (n.845-1G=)
1g.97549745C>GCA341377931DPYDc.1340-1G>C (n.1340-1G>C)
c.1229-1G>C (n.1229-1G>C)
c.845-1G>C (n.845-1G>C)
1g.97549745C>TCA341377932DPYDc.1340-1G>A (n.1340-1G>A)
c.1229-1G>A (n.1229-1G>A)
c.845-1G>A (n.845-1G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97549746T>ACA341377933DPYDc.1340-2A>T (n.1340-2A>T)
c.1229-2A>T (n.1229-2A>T)
c.845-2A>T (n.845-2A>T)
1g.97549746T>CCA16040806DPYDc.1340-2A>G (n.1340-2A>G)
c.1229-2A>G (n.1229-2A>G)
c.845-2A>G (n.845-2A>G)
 ClinVar dbSNP
1g.97549746T>GCA341377934DPYDc.1340-2A>C (n.1340-2A>C)
c.1229-2A>C (n.1229-2A>C)
c.845-2A>C (n.845-2A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549746T=CA1182917463DPYDc.1340-2A= (n.1340-2A=)
c.1229-2A= (n.1229-2A=)
c.845-2A= (n.845-2A=)
1g.97549747G>ACA645518036DPYDc.1340-3C>T (n.1340-3C>T)
c.1229-3C>T (n.1229-3C>T)
c.845-3C>T (n.845-3C>T)
 COSMIC
1g.97549747G>CCA174076DPYDc.1340-3C>G (n.1340-3C>G)
c.1229-3C>G (n.1229-3C>G)
c.845-3C>G (n.845-3C>G)
 ClinVar dbSNP
1g.97549747G=CA1143355336DPYDc.1340-3C= (n.1340-3C=)
c.1229-3C= (n.1229-3C=)
c.845-3C= (n.845-3C=)
1g.97549748A>TCA2646706235DPYDc.1340-4T>A (n.1340-4T>A)
c.1229-4T>A (n.1229-4T>A)
c.845-4T>A (n.845-4T>A)
 gnomAD v4
1g.97549753dupCA963360DPYDc.1340-4dup (n.1340-4dup)
c.1229-4dup (n.1229-4dup)
c.845-4dup (n.845-4dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549753delCA645518037DPYDc.1340-4del (n.1340-4del)
c.1229-4del (n.1229-4del)
c.845-4del (n.845-4del)
 COSMIC
1g.97549749A=CA1143989656DPYDc.1340-5T= (n.1340-5T=)
c.1229-5T= (n.1229-5T=)
c.845-5T= (n.845-5T=)
1g.97549749A>GCA963361DPYDc.1340-5T>C (n.1340-5T>C)
c.1229-5T>C (n.1229-5T>C)
c.845-5T>C (n.845-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549750A>GCA2646706236DPYDc.1340-6T>C (n.1340-6T>C)
c.1229-6T>C (n.1229-6T>C)
c.845-6T>C (n.845-6T>C)
 gnomAD v4

Number of alleles fetched