Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549516_97549522delCA963322DPYDc.1524+40_1524+46del (n.1524+40_1524+46del)
c.1413+40_1413+46del (n.1413+40_1413+46del)
c.1029+40_1029+46del (n.1029+40_1029+46del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549521T>CCA963323DPYDc.1524+39A>G (n.1524+39A>G)
c.1413+39A>G (n.1413+39A>G)
c.1029+39A>G (n.1029+39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549521T=CA1149061715DPYDc.1524+39A= (n.1524+39A=)
c.1413+39A= (n.1413+39A=)
c.1029+39A= (n.1029+39A=)
1g.97549522T>CCA963324DPYDc.1524+38A>G (n.1524+38A>G)
c.1413+38A>G (n.1413+38A>G)
c.1029+38A>G (n.1029+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549522T=CA1143871087DPYDc.1524+38A= (n.1524+38A=)
c.1413+38A= (n.1413+38A=)
c.1029+38A= (n.1029+38A=)
1g.97549523G>CCA2646706220DPYDc.1524+37C>G (n.1524+37C>G)
c.1413+37C>G (n.1413+37C>G)
c.1029+37C>G (n.1029+37C>G)
 gnomAD v4
1g.97549524G>ACA27517878DPYDc.1524+36C>T (n.1524+36C>T)
c.1413+36C>T (n.1413+36C>T)
c.1029+36C>T (n.1029+36C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549524G>CCA525177652DPYDc.1524+36C>G (n.1524+36C>G)
c.1413+36C>G (n.1413+36C>G)
c.1029+36C>G (n.1029+36C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549524G=CA1182917371DPYDc.1524+36C= (n.1524+36C=)
c.1413+36C= (n.1413+36C=)
c.1029+36C= (n.1029+36C=)
1g.97549528delCA2696708353DPYDc.1524+35del (n.1524+35del)
c.1413+35del (n.1413+35del)
c.1029+35del (n.1029+35del)
 dbSNP
1g.97549529G=CA1182917372DPYDc.1524+31C= (n.1524+31C=)
c.1413+31C= (n.1413+31C=)
c.1029+31C= (n.1029+31C=)
1g.97549529G>TCA525177653DPYDc.1524+31C>A (n.1524+31C>A)
c.1413+31C>A (n.1413+31C>A)
c.1029+31C>A (n.1029+31C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97549530A=CA1182917373DPYDc.1524+30T= (n.1524+30T=)
c.1413+30T= (n.1413+30T=)
c.1029+30T= (n.1029+30T=)
1g.97549530A>CCA740795484DPYDc.1524+30T>G (n.1524+30T>G)
c.1413+30T>G (n.1413+30T>G)
c.1029+30T>G (n.1029+30T>G)
 dbSNP gnomAD v4
1g.97549531A=CA1182917374DPYDc.1524+29T= (n.1524+29T=)
c.1413+29T= (n.1413+29T=)
c.1029+29T= (n.1029+29T=)
1g.97549531A>GCA525177654DPYDc.1524+29T>C (n.1524+29T>C)
c.1413+29T>C (n.1413+29T>C)
c.1029+29T>C (n.1029+29T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.97549532T>CCA963325DPYDc.1524+28A>G (n.1524+28A>G)
c.1413+28A>G (n.1413+28A>G)
c.1029+28A>G (n.1029+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549532T=CA1144685139DPYDc.1524+28A= (n.1524+28A=)
c.1413+28A= (n.1413+28A=)
c.1029+28A= (n.1029+28A=)
1g.97549533T>CCA2646706221DPYDc.1524+27A>G (n.1524+27A>G)
c.1413+27A>G (n.1413+27A>G)
c.1029+27A>G (n.1029+27A>G)
 gnomAD v4
1g.97549534A>TCA2646706222DPYDc.1524+26T>A (n.1524+26T>A)
c.1413+26T>A (n.1413+26T>A)
c.1029+26T>A (n.1029+26T>A)
 gnomAD v4
1g.97549535A>GCA2646706223DPYDc.1524+25T>C (n.1524+25T>C)
c.1413+25T>C (n.1413+25T>C)
c.1029+25T>C (n.1029+25T>C)
 gnomAD v4
1g.97549536G>CCA2646706225DPYDc.1524+24C>G (n.1524+24C>G)
c.1413+24C>G (n.1413+24C>G)
c.1029+24C>G (n.1029+24C>G)
 gnomAD v4
1g.97549536G>TCA2646706224DPYDc.1524+24C>A (n.1524+24C>A)
c.1413+24C>A (n.1413+24C>A)
c.1029+24C>A (n.1029+24C>A)
 gnomAD v4
1g.97549537T>ACA2646706226DPYDc.1524+23A>T (n.1524+23A>T)
c.1413+23A>T (n.1413+23A>T)
c.1029+23A>T (n.1029+23A>T)
 gnomAD v4
1g.97549537T>CCA2646706227DPYDc.1524+23A>G (n.1524+23A>G)
c.1413+23A>G (n.1413+23A>G)
c.1029+23A>G (n.1029+23A>G)
 gnomAD v4
1g.97549538G>ACA963326DPYDc.1524+22C>T (n.1524+22C>T)
c.1413+22C>T (n.1413+22C>T)
c.1029+22C>T (n.1029+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549538G=CA1148448991DPYDc.1524+22C= (n.1524+22C=)
c.1413+22C= (n.1413+22C=)
c.1029+22C= (n.1029+22C=)
1g.97549538G>TCA2646706228DPYDc.1524+22C>A (n.1524+22C>A)
c.1413+22C>A (n.1413+22C>A)
c.1029+22C>A (n.1029+22C>A)
 gnomAD v4
1g.97549539G=CA1144155596DPYDc.1524+21C= (n.1524+21C=)
c.1413+21C= (n.1413+21C=)
c.1029+21C= (n.1029+21C=)
1g.97549539G>TCA963327DPYDc.1524+21C>A (n.1524+21C>A)
c.1413+21C>A (n.1413+21C>A)
c.1029+21C>A (n.1029+21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549541A=CA1182917375DPYDc.1524+19T= (n.1524+19T=)
c.1413+19T= (n.1413+19T=)
c.1029+19T= (n.1029+19T=)
1g.97549541A>GCA963328DPYDc.1524+19T>C (n.1524+19T>C)
c.1413+19T>C (n.1413+19T>C)
c.1029+19T>C (n.1029+19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549543T>CCA740795510DPYDc.1524+17A>G (n.1524+17A>G)
c.1413+17A>G (n.1413+17A>G)
c.1029+17A>G (n.1029+17A>G)
 dbSNP
1g.97549543T=CA1182917376DPYDc.1524+17A= (n.1524+17A=)
c.1413+17A= (n.1413+17A=)
c.1029+17A= (n.1029+17A=)
1g.97549544G>ACA525177655DPYDc.1524+16C>T (n.1524+16C>T)
c.1413+16C>T (n.1413+16C>T)
c.1029+16C>T (n.1029+16C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.97549544G=CA1143355335DPYDc.1524+16C= (n.1524+16C=)
c.1413+16C= (n.1413+16C=)
c.1029+16C= (n.1029+16C=)
1g.97549544G>TCA228130DPYDc.1524+16C>A (n.1524+16C>A)
c.1413+16C>A (n.1413+16C>A)
c.1029+16C>A (n.1029+16C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549547G>ACA740795528DPYDc.1524+13C>T (n.1524+13C>T)
c.1413+13C>T (n.1413+13C>T)
c.1029+13C>T (n.1029+13C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.97549547G>CCA1182917379DPYDc.1524+13C>G (n.1524+13C>G)
c.1413+13C>G (n.1413+13C>G)
c.1029+13C>G (n.1029+13C>G)
 dbSNP gnomAD v4
1g.97549547G=CA1182917377DPYDc.1524+13C= (n.1524+13C=)
c.1413+13C= (n.1413+13C=)
c.1029+13C= (n.1029+13C=)
1g.97549547G>TCA1182917378DPYDc.1524+13C>A (n.1524+13C>A)
c.1413+13C>A (n.1413+13C>A)
c.1029+13C>A (n.1029+13C>A)
 dbSNP gnomAD v4
1g.97549548G>ACA2646706229DPYDc.1524+12C>T (n.1524+12C>T)
c.1413+12C>T (n.1413+12C>T)
c.1029+12C>T (n.1029+12C>T)
 gnomAD v4
1g.97549548G=CA1182917380DPYDc.1524+12C= (n.1524+12C=)
c.1413+12C= (n.1413+12C=)
c.1029+12C= (n.1029+12C=)
1g.97549548G>TCA1182917381DPYDc.1524+12C>A (n.1524+12C>A)
c.1413+12C>A (n.1413+12C>A)
c.1029+12C>A (n.1029+12C>A)
 dbSNP gnomAD v4
1g.97549549C>TCA525177656DPYDc.1524+11G>A (n.1524+11G>A)
c.1413+11G>A (n.1413+11G>A)
c.1029+11G>A (n.1029+11G>A)
 gnomAD v2
1g.97549549_97549550delinsCACA1182917382DPYDc.1524+10_1524+11delinsTG (n.1524+10_1524+11delinsTG)
c.1413+10_1413+11delinsTG (n.1413+10_1413+11delinsTG)
c.1029+10_1029+11delinsTG (n.1029+10_1029+11delinsTG)
1g.97549550A=CA1182917383DPYDc.1524+10T= (n.1524+10T=)
c.1413+10T= (n.1413+10T=)
c.1029+10T= (n.1029+10T=)
1g.97549550A>CCA1182917384DPYDc.1524+10T>G (n.1524+10T>G)
c.1413+10T>G (n.1413+10T>G)
c.1029+10T>G (n.1029+10T>G)
 dbSNP gnomAD v4
1g.97549552delCA525177657DPYDc.1524+10del (n.1524+10del)
c.1413+10del (n.1413+10del)
c.1029+10del (n.1029+10del)
 dbSNP gnomAD v2 gnomAD v4
1g.97549553T>CCA645518035DPYDc.1524+7A>G (n.1524+7A>G)
c.1413+7A>G (n.1413+7A>G)
c.1029+7A>G (n.1029+7A>G)
 dbSNP COSMIC
1g.97549553T=CA1182917385DPYDc.1524+7A= (n.1524+7A=)
c.1413+7A= (n.1413+7A=)
c.1029+7A= (n.1029+7A=)
1g.97549554G>ACA2646706230DPYDc.1524+6C>T (n.1524+6C>T)
c.1413+6C>T (n.1413+6C>T)
c.1029+6C>T (n.1029+6C>T)
 gnomAD v4
1g.97549555C>TCA2574442270DPYDc.1524+5G>A (n.1524+5G>A)
c.1413+5G>A (n.1413+5G>A)
c.1029+5G>A (n.1029+5G>A)
1g.97549556C>TCA2646706231DPYDc.1524+4G>A (n.1524+4G>A)
c.1413+4G>A (n.1413+4G>A)
c.1029+4G>A (n.1029+4G>A)
 gnomAD v4
1g.97549558A>CCA341377316DPYDc.1524+2T>G (n.1524+2T>G)
c.1413+2T>G (n.1413+2T>G)
c.1029+2T>G (n.1029+2T>G)
1g.97549558A>GCA341377314DPYDc.1524+2T>C (n.1524+2T>C)
c.1413+2T>C (n.1413+2T>C)
c.1029+2T>C (n.1029+2T>C)
 gnomAD v4
1g.97549558A>TCA341377315DPYDc.1524+2T>A (n.1524+2T>A)
c.1413+2T>A (n.1413+2T>A)
c.1029+2T>A (n.1029+2T>A)
 COSMIC
1g.97549559C>ACA341377317DPYDc.1524+1G>T (n.1524+1G>T)
c.1413+1G>T (n.1413+1G>T)
c.1029+1G>T (n.1029+1G>T)
1g.97549559C=CA1182917386DPYDc.1524+1G= (n.1524+1G=)
c.1413+1G= (n.1413+1G=)
c.1029+1G= (n.1029+1G=)
1g.97549559C>GCA341377318DPYDc.1524+1G>C (n.1524+1G>C)
c.1413+1G>C (n.1413+1G>C)
c.1029+1G>C (n.1029+1G>C)
1g.97549559C>TCA16040804DPYDc.1524+1G>A (n.1524+1G>A)
c.1413+1G>A (n.1413+1G>A)
c.1029+1G>A (n.1029+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97549560C>ACA341377319DPYDc.1524G>T (p.Gln508His)
c.1413G>T (p.Gln471His)
c.1029G>T (p.Gln343His)
1g.97549560C=CA1182917387DPYDc.1524G= (p.Gln508=)
c.1413G= (p.Gln471=)
c.1029G= (p.Gln343=)
1g.97549560C>GCA341377320DPYDc.1524G>C (p.Gln508His)
c.1413G>C (p.Gln471His)
c.1029G>C (p.Gln343His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549560C>TCA963329DPYDc.1524G>A (p.Gln508=)
c.1413G>A (p.Gln471=)
c.1029G>A (p.Gln343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549561_97549562insACTCA2574442271DPYDc.1524_1524+1insTAG
c.1413_1413+1insTAG
c.1029_1029+1insTAG
1g.97549561T>ACA341377324DPYDc.1523A>T (p.Gln508Leu)
c.1412A>T (p.Gln471Leu)
c.1028A>T (p.Gln343Leu)
1g.97549561T>CCA341377325DPYDc.1523A>G (p.Gln508Arg)
c.1412A>G (p.Gln471Arg)
c.1028A>G (p.Gln343Arg)
1g.97549561T>GCA341377327DPYDc.1523A>C (p.Gln508Pro)
c.1412A>C (p.Gln471Pro)
c.1028A>C (p.Gln343Pro)
1g.97549562G>ACA341377329DPYDc.1522C>T (p.Gln508Ter)
c.1411C>T (p.Gln471Ter)
c.1027C>T (p.Gln343Ter)
1g.97549562G>CCA341377330DPYDc.1522C>G (p.Gln508Glu)
c.1411C>G (p.Gln471Glu)
c.1027C>G (p.Gln343Glu)
1g.97549562G>TCA341377331DPYDc.1522C>A (p.Gln508Lys)
c.1411C>A (p.Gln471Lys)
c.1027C>A (p.Gln343Lys)
1g.97549562dupCA2696708359DPYDc.1522dup (p.Gln508ProfsTer13)
c.1522dup (p.Gln508ProfsTer?)
c.1411dup (p.Gln471ProfsTer13)
c.1027dup (p.Gln343ProfsTer13)
 dbSNP
1g.97549563T>ACA963330DPYDc.1521A>T (p.Val507=)
c.1410A>T (p.Val470=)
c.1026A>T (p.Val342=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549563T>CCA419145201DPYDc.1521A>G (p.Val507=)
c.1410A>G (p.Val470=)
c.1026A>G (p.Val342=)
1g.97549563T>GCA419145200DPYDc.1521A>C (p.Val507=)
c.1410A>C (p.Val470=)
c.1026A>C (p.Val342=)
1g.97549563T=CA1143955062DPYDc.1521A= (p.Val507=)
c.1410A= (p.Val470=)
c.1026A= (p.Val342=)
1g.97549563_97549564insTTTAGAAAACA2744701767DPYDc.1520_1521insTTTTCTAAA (p.Val507_Gln508insPheLeuLys)
c.1409_1410insTTTTCTAAA (p.Val470_Gln471insPheLeuLys)
c.1025_1026insTTTTCTAAA (p.Val342_Gln343insPheLeuLys)
1g.97549564A>CCA341377334DPYDc.1520T>G (p.Val507Gly)
c.1409T>G (p.Val470Gly)
c.1025T>G (p.Val342Gly)
1g.97549564A>GCA341377335DPYDc.1520T>C (p.Val507Ala)
c.1409T>C (p.Val470Ala)
c.1025T>C (p.Val342Ala)
1g.97549564A>TCA341377337DPYDc.1520T>A (p.Val507Glu)
c.1409T>A (p.Val470Glu)
c.1025T>A (p.Val342Glu)
1g.97549565C>ACA341377339DPYDc.1519G>T (p.Val507Leu)
c.1408G>T (p.Val470Leu)
c.1024G>T (p.Val342Leu)
 gnomAD v4
1g.97549565C=CA1141614733DPYDc.1519G= (p.Val507=)
c.1408G= (p.Val470=)
c.1024G= (p.Val342=)
1g.97549565C>GCA341377341DPYDc.1519G>C (p.Val507Leu)
c.1408G>C (p.Val470Leu)
c.1024G>C (p.Val342Leu)
1g.97549565C>TCA963331DPYDc.1519G>A (p.Val507Ile)
c.1408G>A (p.Val470Ile)
c.1024G>A (p.Val342Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549565_97549566delinsCGCA1182917388DPYDc.1518_1519delinsCG (p.Tyr506=)
c.1407_1408delinsCG (p.Tyr469=)
c.1023_1024delinsCG (p.Tyr341=)
1g.97549566delCA16040805DPYDc.1518del (p.Tyr506Ter)
c.1407del (p.Tyr469Ter)
c.1023del (p.Tyr341Ter)
 ClinVar dbSNP
1g.97549566G>ACA963332DPYDc.1518C>T (p.Tyr506=)
c.1407C>T (p.Tyr469=)
c.1023C>T (p.Tyr341=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549566G>CCA341377345DPYDc.1518C>G (p.Tyr506Ter)
c.1407C>G (p.Tyr469Ter)
c.1023C>G (p.Tyr341Ter)
1g.97549566G=CA1143465133DPYDc.1518C= (p.Tyr506=)
c.1407C= (p.Tyr469=)
c.1023C= (p.Tyr341=)
1g.97549566G>TCA341377347DPYDc.1518C>A (p.Tyr506Ter)
c.1407C>A (p.Tyr469Ter)
c.1023C>A (p.Tyr341Ter)
 gnomAD v4
1g.97549567T>ACA341377350DPYDc.1517A>T (p.Tyr506Phe)
c.1406A>T (p.Tyr469Phe)
c.1022A>T (p.Tyr341Phe)
1g.97549567T>CCA341377352DPYDc.1517A>G (p.Tyr506Cys)
c.1406A>G (p.Tyr469Cys)
c.1022A>G (p.Tyr341Cys)
1g.97549567T>GCA341377354DPYDc.1517A>C (p.Tyr506Ser)
c.1406A>C (p.Tyr469Ser)
c.1022A>C (p.Tyr341Ser)
1g.97549568A>CCA341377360DPYDc.1516T>G (p.Tyr506Asp)
c.1405T>G (p.Tyr469Asp)
c.1021T>G (p.Tyr341Asp)
1g.97549568A>GCA341377359DPYDc.1516T>C (p.Tyr506His)
c.1405T>C (p.Tyr469His)
c.1021T>C (p.Tyr341His)
 gnomAD v4
1g.97549568A>TCA341377357DPYDc.1516T>A (p.Tyr506Asn)
c.1405T>A (p.Tyr469Asn)
c.1021T>A (p.Tyr341Asn)
1g.97549569T>ACA341377363DPYDc.1515A>T (p.Lys505Asn)
c.1404A>T (p.Lys468Asn)
c.1020A>T (p.Lys340Asn)
1g.97549569T>CCA419145207DPYDc.1515A>G (p.Lys505=)
c.1404A>G (p.Lys468=)
c.1020A>G (p.Lys340=)
1g.97549569T>GCA341377362DPYDc.1515A>C (p.Lys505Asn)
c.1404A>C (p.Lys468Asn)
c.1020A>C (p.Lys340Asn)
1g.97549570T>ACA341377365DPYDc.1514A>T (p.Lys505Ile)
c.1403A>T (p.Lys468Ile)
c.1019A>T (p.Lys340Ile)
1g.97549570T>CCA341377367DPYDc.1514A>G (p.Lys505Arg)
c.1403A>G (p.Lys468Arg)
c.1019A>G (p.Lys340Arg)
 dbSNP gnomAD v4
1g.97549570T>GCA341377368DPYDc.1514A>C (p.Lys505Thr)
c.1403A>C (p.Lys468Thr)
c.1019A>C (p.Lys340Thr)
1g.97549571T>ACA341377370DPYDc.1513A>T (p.Lys505Ter)
c.1402A>T (p.Lys468Ter)
c.1018A>T (p.Lys340Ter)
1g.97549571T>CCA341377371DPYDc.1513A>G (p.Lys505Glu)
c.1402A>G (p.Lys468Glu)
c.1018A>G (p.Lys340Glu)
 gnomAD v4
1g.97549571T>GCA341377372DPYDc.1513A>C (p.Lys505Gln)
c.1402A>C (p.Lys468Gln)
c.1018A>C (p.Lys340Gln)
1g.97549572delCA2744701768DPYDc.1512del (p.His504GlnfsTer?)
c.1512del (p.His504GlnfsTer8)
c.1401del (p.His467GlnfsTer?)
c.1017del (p.His339GlnfsTer?)
1g.97549572G>ACA419145209DPYDc.1512C>T (p.His504=)
c.1401C>T (p.His467=)
c.1017C>T (p.His339=)
1g.97549572G>CCA341377373DPYDc.1512C>G (p.His504Gln)
c.1401C>G (p.His467Gln)
c.1017C>G (p.His339Gln)
1g.97549572G>TCA341377374DPYDc.1512C>A (p.His504Gln)
c.1401C>A (p.His467Gln)
c.1017C>A (p.His339Gln)
1g.97549573T>ACA341377376DPYDc.1511A>T (p.His504Leu)
c.1400A>T (p.His467Leu)
c.1016A>T (p.His339Leu)
1g.97549573T>CCA341377377DPYDc.1511A>G (p.His504Arg)
c.1400A>G (p.His467Arg)
c.1016A>G (p.His339Arg)
1g.97549573T>GCA341377380DPYDc.1511A>C (p.His504Pro)
c.1400A>C (p.His467Pro)
c.1016A>C (p.His339Pro)
1g.97549574G>ACA341377381DPYDc.1510C>T (p.His504Tyr)
c.1399C>T (p.His467Tyr)
c.1015C>T (p.His339Tyr)
1g.97549574G>CCA341377382DPYDc.1510C>G (p.His504Asp)
c.1399C>G (p.His467Asp)
c.1015C>G (p.His339Asp)
1g.97549574G>TCA341377384DPYDc.1510C>A (p.His504Asn)
c.1399C>A (p.His467Asn)
c.1015C>A (p.His339Asn)
1g.97549575A>CCA341377386DPYDc.1509T>G (p.Ile503Met)
c.1398T>G (p.Ile466Met)
c.1014T>G (p.Ile338Met)
1g.97549575A>GCA419145211DPYDc.1509T>C (p.Ile503=)
c.1398T>C (p.Ile466=)
c.1014T>C (p.Ile338=)
1g.97549575A>TCA419145212DPYDc.1509T>A (p.Ile503=)
c.1398T>A (p.Ile466=)
c.1014T>A (p.Ile338=)
1g.97549576A=CA1182917389DPYDc.1508T= (p.Ile503=)
c.1397T= (p.Ile466=)
c.1013T= (p.Ile338=)
1g.97549576A>CCA341377389DPYDc.1508T>G (p.Ile503Ser)
c.1397T>G (p.Ile466Ser)
c.1013T>G (p.Ile338Ser)
1g.97549576A>GCA341377390DPYDc.1508T>C (p.Ile503Thr)
c.1397T>C (p.Ile466Thr)
c.1013T>C (p.Ile338Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.97549576A>TCA341377392DPYDc.1508T>A (p.Ile503Asn)
c.1397T>A (p.Ile466Asn)
c.1013T>A (p.Ile338Asn)
1g.97549577T>ACA341377394DPYDc.1507A>T (p.Ile503Phe)
c.1396A>T (p.Ile466Phe)
c.1012A>T (p.Ile338Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.97549577T>CCA963333DPYDc.1507A>G (p.Ile503Val)
c.1396A>G (p.Ile466Val)
c.1012A>G (p.Ile338Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549577T>GCA341377396DPYDc.1507A>C (p.Ile503Leu)
c.1396A>C (p.Ile466Leu)
c.1012A>C (p.Ile338Leu)
 gnomAD v4
1g.97549577T=CA1182917390DPYDc.1507A= (p.Ile503=)
c.1396A= (p.Ile466=)
c.1012A= (p.Ile338=)
1g.97549578G>ACA419145215DPYDc.1506C>T (p.Tyr502=)
c.1395C>T (p.Tyr465=)
c.1011C>T (p.Tyr337=)
 gnomAD v4
1g.97549578G>CCA341377398DPYDc.1506C>G (p.Tyr502Ter)
c.1395C>G (p.Tyr465Ter)
c.1011C>G (p.Tyr337Ter)
1g.97549578G>TCA341377399DPYDc.1506C>A (p.Tyr502Ter)
c.1395C>A (p.Tyr465Ter)
c.1011C>A (p.Tyr337Ter)
1g.97549579T>ACA341377402DPYDc.1505A>T (p.Tyr502Phe)
c.1394A>T (p.Tyr465Phe)
c.1010A>T (p.Tyr337Phe)
1g.97549579T>CCA963334DPYDc.1505A>G (p.Tyr502Cys)
c.1394A>G (p.Tyr465Cys)
c.1010A>G (p.Tyr337Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549579T>GCA341377405DPYDc.1505A>C (p.Tyr502Ser)
c.1394A>C (p.Tyr465Ser)
c.1010A>C (p.Tyr337Ser)
1g.97549579T=CA1182917391DPYDc.1505A= (p.Tyr502=)
c.1394A= (p.Tyr465=)
c.1010A= (p.Tyr337=)
1g.97549580A=CA1182917392DPYDc.1504T= (p.Tyr502=)
c.1393T= (p.Tyr465=)
c.1009T= (p.Tyr337=)
1g.97549580A>CCA341377410DPYDc.1504T>G (p.Tyr502Asp)
c.1393T>G (p.Tyr465Asp)
c.1009T>G (p.Tyr337Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549580A>GCA341377412DPYDc.1504T>C (p.Tyr502His)
c.1393T>C (p.Tyr465His)
c.1009T>C (p.Tyr337His)
1g.97549580A>TCA341377413DPYDc.1504T>A (p.Tyr502Asn)
c.1393T>A (p.Tyr465Asn)
c.1009T>A (p.Tyr337Asn)
1g.97549581C>ACA341377416DPYDc.1503G>T (p.Trp501Cys)
c.1392G>T (p.Trp464Cys)
c.1008G>T (p.Trp336Cys)
1g.97549581C=CA1182917393DPYDc.1503G= (p.Trp501=)
c.1392G= (p.Trp464=)
c.1008G= (p.Trp336=)
1g.97549581C>GCA341377418DPYDc.1503G>C (p.Trp501Cys)
c.1392G>C (p.Trp464Cys)
c.1008G>C (p.Trp336Cys)
1g.97549581C>TCA341377414DPYDc.1503G>A (p.Trp501Ter)
c.1392G>A (p.Trp464Ter)
c.1008G>A (p.Trp336Ter)
 ClinVar dbSNP
1g.97549582C>ACA341377420DPYDc.1502G>T (p.Trp501Leu)
c.1391G>T (p.Trp464Leu)
c.1007G>T (p.Trp336Leu)
1g.97549582C=CA1182917394DPYDc.1502G= (p.Trp501=)
c.1391G= (p.Trp464=)
c.1007G= (p.Trp336=)
1g.97549582C>GCA341377422DPYDc.1502G>C (p.Trp501Ser)
c.1391G>C (p.Trp464Ser)
c.1007G>C (p.Trp336Ser)
1g.97549582C>TCA341377421DPYDc.1502G>A (p.Trp501Ter)
c.1391G>A (p.Trp464Ter)
c.1007G>A (p.Trp336Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97549583A>CCA341377424DPYDc.1501T>G (p.Trp501Gly)
c.1390T>G (p.Trp464Gly)
c.1006T>G (p.Trp336Gly)
1g.97549583A>GCA341377426DPYDc.1501T>C (p.Trp501Arg)
c.1390T>C (p.Trp464Arg)
c.1006T>C (p.Trp336Arg)
1g.97549583A>TCA341377428DPYDc.1501T>A (p.Trp501Arg)
c.1390T>A (p.Trp464Arg)
c.1006T>A (p.Trp336Arg)
1g.97549584A=CA1182917395DPYDc.1500T= (p.Ser500=)
c.1389T= (p.Ser463=)
c.1005T= (p.Ser335=)
1g.97549584A>CCA419145219DPYDc.1500T>G (p.Ser500=)
c.1389T>G (p.Ser463=)
c.1005T>G (p.Ser335=)
 gnomAD v4
1g.97549584A>GCA419145220DPYDc.1500T>C (p.Ser500=)
c.1389T>C (p.Ser463=)
c.1005T>C (p.Ser335=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549584A>TCA419145221DPYDc.1500T>A (p.Ser500=)
c.1389T>A (p.Ser463=)
c.1005T>A (p.Ser335=)
 dbSNP
1g.97549585G>ACA341377431DPYDc.1499C>T (p.Ser500Phe)
c.1388C>T (p.Ser463Phe)
c.1004C>T (p.Ser335Phe)
1g.97549585G>CCA341377432DPYDc.1499C>G (p.Ser500Cys)
c.1388C>G (p.Ser463Cys)
c.1004C>G (p.Ser335Cys)
1g.97549585G>TCA341377434DPYDc.1499C>A (p.Ser500Tyr)
c.1388C>A (p.Ser463Tyr)
c.1004C>A (p.Ser335Tyr)
1g.97549586A=CA1182917396DPYDc.1498T= (p.Ser500=)
c.1387T= (p.Ser463=)
c.1003T= (p.Ser335=)
1g.97549586A>CCA963335DPYDc.1498T>G (p.Ser500Ala)
c.1387T>G (p.Ser463Ala)
c.1003T>G (p.Ser335Ala)
 dbSNP ExAC gnomAD v2
1g.97549586A>GCA341377438DPYDc.1498T>C (p.Ser500Pro)
c.1387T>C (p.Ser463Pro)
c.1003T>C (p.Ser335Pro)
1g.97549586A>TCA341377440DPYDc.1498T>A (p.Ser500Thr)
c.1387T>A (p.Ser463Thr)
c.1003T>A (p.Ser335Thr)
1g.97549587A>CCA419145224DPYDc.1497T>G (p.Ala499=)
c.1386T>G (p.Ala462=)
c.1002T>G (p.Ala334=)
1g.97549587A>GCA419145226DPYDc.1497T>C (p.Ala499=)
c.1386T>C (p.Ala462=)
c.1002T>C (p.Ala334=)
1g.97549587A>TCA419145225DPYDc.1497T>A (p.Ala499=)
c.1386T>A (p.Ala462=)
c.1002T>A (p.Ala334=)
1g.97549588G>ACA341377442DPYDc.1496C>T (p.Ala499Val)
c.1385C>T (p.Ala462Val)
c.1001C>T (p.Ala334Val)
1g.97549588G>CCA341377444DPYDc.1496C>G (p.Ala499Gly)
c.1385C>G (p.Ala462Gly)
c.1001C>G (p.Ala334Gly)
1g.97549588G>TCA341377446DPYDc.1496C>A (p.Ala499Asp)
c.1385C>A (p.Ala462Asp)
c.1001C>A (p.Ala334Asp)
1g.97549589C>ACA341377452DPYDc.1495G>T (p.Ala499Ser)
c.1384G>T (p.Ala462Ser)
c.1000G>T (p.Ala334Ser)
1g.97549589C>GCA341377449DPYDc.1495G>C (p.Ala499Pro)
c.1384G>C (p.Ala462Pro)
c.1000G>C (p.Ala334Pro)
1g.97549589C>TCA341377451DPYDc.1495G>A (p.Ala499Thr)
c.1384G>A (p.Ala462Thr)
c.1000G>A (p.Ala334Thr)
1g.97549590T>ACA963337DPYDc.1494A>T (p.Gln498His)
c.1383A>T (p.Gln461His)
c.999A>T (p.Gln333His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549590T>CCA963336DPYDc.1494A>G (p.Gln498=)
c.1383A>G (p.Gln461=)
c.999A>G (p.Gln333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549590T>GCA341377453DPYDc.1494A>C (p.Gln498His)
c.1383A>C (p.Gln461His)
c.999A>C (p.Gln333His)
1g.97549590T=CA1141525979DPYDc.1494A= (p.Gln498=)
c.1383A= (p.Gln461=)
c.999A= (p.Gln333=)
1g.97549591T>ACA341377454DPYDc.1493A>T (p.Gln498Leu)
c.1382A>T (p.Gln461Leu)
c.998A>T (p.Gln333Leu)
1g.97549591T>CCA341377455DPYDc.1493A>G (p.Gln498Arg)
c.1382A>G (p.Gln461Arg)
c.998A>G (p.Gln333Arg)
1g.97549591T>GCA341377457DPYDc.1493A>C (p.Gln498Pro)
c.1382A>C (p.Gln461Pro)
c.998A>C (p.Gln333Pro)
1g.97549592G>ACA341377459DPYDc.1492C>T (p.Gln498Ter)
c.1381C>T (p.Gln461Ter)
c.997C>T (p.Gln333Ter)
1g.97549592G>CCA341377461DPYDc.1492C>G (p.Gln498Glu)
c.1381C>G (p.Gln461Glu)
c.997C>G (p.Gln333Glu)
1g.97549592G=CA1182917397DPYDc.1492C= (p.Gln498=)
c.1381C= (p.Gln461=)
c.997C= (p.Gln333=)
1g.97549592G>TCA341377463DPYDc.1492C>A (p.Gln498Lys)
c.1381C>A (p.Gln461Lys)
c.997C>A (p.Gln333Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549592_97549593insTACA2744701769DPYDc.1491_1492insTA (p.Gln498TyrfsTer?)
c.1491_1492insTA (p.Gln498TyrfsTer15)
c.1380_1381insTA (p.Gln461TyrfsTer?)
c.996_997insTA (p.Gln333TyrfsTer?)
1g.97549593C>ACA341377466DPYDc.1491G>T (p.Lys497Asn)
c.1380G>T (p.Lys460Asn)
c.996G>T (p.Lys332Asn)
1g.97549593C>GCA341377468DPYDc.1491G>C (p.Lys497Asn)
c.1380G>C (p.Lys460Asn)
c.996G>C (p.Lys332Asn)
1g.97549593C>TCA419145231DPYDc.1491G>A (p.Lys497=)
c.1380G>A (p.Lys460=)
c.996G>A (p.Lys332=)
1g.97549594T>ACA341377477DPYDc.1490A>T (p.Lys497Met)
c.1379A>T (p.Lys460Met)
c.995A>T (p.Lys332Met)
1g.97549594T>CCA341377472DPYDc.1490A>G (p.Lys497Arg)
c.1379A>G (p.Lys460Arg)
c.995A>G (p.Lys332Arg)
1g.97549594T>GCA341377471DPYDc.1490A>C (p.Lys497Thr)
c.1379A>C (p.Lys460Thr)
c.995A>C (p.Lys332Thr)
1g.97549595T>ACA341377480DPYDc.1489A>T (p.Lys497Ter)
c.1378A>T (p.Lys460Ter)
c.994A>T (p.Lys332Ter)
1g.97549595T>CCA341377482DPYDc.1489A>G (p.Lys497Glu)
c.1378A>G (p.Lys460Glu)
c.994A>G (p.Lys332Glu)
1g.97549595T>GCA341377483DPYDc.1489A>C (p.Lys497Gln)
c.1378A>C (p.Lys460Gln)
c.994A>C (p.Lys332Gln)
1g.97549596T>ACA419145236DPYDc.1488A>T (p.Gly496=)
c.1377A>T (p.Gly459=)
c.993A>T (p.Gly331=)
 gnomAD v4
1g.97549596T>CCA419145237DPYDc.1488A>G (p.Gly496=)
c.1377A>G (p.Gly459=)
c.993A>G (p.Gly331=)
 dbSNP gnomAD v3 gnomAD v4
1g.97549596T>GCA419145235DPYDc.1488A>C (p.Gly496=)
c.1377A>C (p.Gly459=)
c.993A>C (p.Gly331=)
1g.97549596T=CA1182917398DPYDc.1488A= (p.Gly496=)
c.1377A= (p.Gly459=)
c.993A= (p.Gly331=)
1g.97549597C>ACA341377484DPYDc.1487G>T (p.Gly496Val)
c.1376G>T (p.Gly459Val)
c.992G>T (p.Gly331Val)
1g.97549597C>GCA341377485DPYDc.1487G>C (p.Gly496Ala)
c.1376G>C (p.Gly459Ala)
c.992G>C (p.Gly331Ala)
1g.97549597C>TCA341377486DPYDc.1487G>A (p.Gly496Glu)
c.1376G>A (p.Gly459Glu)
c.992G>A (p.Gly331Glu)
 COSMIC
1g.97549598C>ACA341377489DPYDc.1486G>T (p.Gly496Ter)
c.1375G>T (p.Gly459Ter)
c.991G>T (p.Gly331Ter)
1g.97549598C>GCA341377487DPYDc.1486G>C (p.Gly496Arg)
c.1375G>C (p.Gly459Arg)
c.991G>C (p.Gly331Arg)
1g.97549598C>TCA341377488DPYDc.1486G>A (p.Gly496Arg)
c.1375G>A (p.Gly459Arg)
c.991G>A (p.Gly331Arg)
1g.97549599A=CA1182917399DPYDc.1485T= (p.Asp495=)
c.1374T= (p.Asp458=)
c.990T= (p.Asp330=)
1g.97549599A>CCA341377490DPYDc.1485T>G (p.Asp495Glu)
c.1374T>G (p.Asp458Glu)
c.990T>G (p.Asp330Glu)
1g.97549599A>GCA419145239DPYDc.1485T>C (p.Asp495=)
c.1374T>C (p.Asp458=)
c.990T>C (p.Asp330=)
 dbSNP gnomAD v4
1g.97549599A>TCA341377491DPYDc.1485T>A (p.Asp495Glu)
c.1374T>A (p.Asp458Glu)
c.990T>A (p.Asp330Glu)
1g.97549600T>ACA341377493DPYDc.1484A>T (p.Asp495Val)
c.1373A>T (p.Asp458Val)
c.989A>T (p.Asp330Val)
1g.97549600T>CCA27517937DPYDc.1484A>G (p.Asp495Gly)
c.1373A>G (p.Asp458Gly)
c.989A>G (p.Asp330Gly)
 dbSNP gnomAD v4
1g.97549600T>GCA341377495DPYDc.1484A>C (p.Asp495Ala)
c.1373A>C (p.Asp458Ala)
c.989A>C (p.Asp330Ala)
1g.97549600T=CA1141231464DPYDc.1484A= (p.Asp495=)
c.1373A= (p.Asp458=)
c.989A= (p.Asp330=)
1g.97549601C>ACA341377497DPYDc.1483G>T (p.Asp495Tyr)
c.1372G>T (p.Asp458Tyr)
c.988G>T (p.Asp330Tyr)
1g.97549601C=CA1182917400DPYDc.1483G= (p.Asp495=)
c.1372G= (p.Asp458=)
c.988G= (p.Asp330=)
1g.97549601C>GCA341377499DPYDc.1483G>C (p.Asp495His)
c.1372G>C (p.Asp458His)
c.988G>C (p.Asp330His)
1g.97549601C>TCA341377498DPYDc.1483G>A (p.Asp495Asn)
c.1372G>A (p.Asp458Asn)
c.988G>A (p.Asp330Asn)
 dbSNP COSMIC
1g.97549602A>CCA341377501DPYDc.1482T>G (p.Asn494Lys)
c.1371T>G (p.Asn457Lys)
c.987T>G (p.Asn329Lys)
1g.97549602A>GCA419145243DPYDc.1482T>C (p.Asn494=)
c.1371T>C (p.Asn457=)
c.987T>C (p.Asn329=)
1g.97549602A>TCA341377502DPYDc.1482T>A (p.Asn494Lys)
c.1371T>A (p.Asn457Lys)
c.987T>A (p.Asn329Lys)
1g.97549603T>ACA341377504DPYDc.1481A>T (p.Asn494Ile)
c.1370A>T (p.Asn457Ile)
c.986A>T (p.Asn329Ile)
1g.97549603T>CCA963338DPYDc.1481A>G (p.Asn494Ser)
c.1370A>G (p.Asn457Ser)
c.986A>G (p.Asn329Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549603T>GCA341377506DPYDc.1481A>C (p.Asn494Thr)
c.1370A>C (p.Asn457Thr)
c.986A>C (p.Asn329Thr)
1g.97549603T=CA1182917401DPYDc.1481A= (p.Asn494=)
c.1370A= (p.Asn457=)
c.986A= (p.Asn329=)
1g.97549604T>ACA341377507DPYDc.1480A>T (p.Asn494Tyr)
c.1369A>T (p.Asn457Tyr)
c.985A>T (p.Asn329Tyr)
1g.97549604T>CCA341377509DPYDc.1480A>G (p.Asn494Asp)
c.1369A>G (p.Asn457Asp)
c.985A>G (p.Asn329Asp)
1g.97549604T>GCA341377511DPYDc.1480A>C (p.Asn494His)
c.1369A>C (p.Asn457His)
c.985A>C (p.Asn329His)
1g.97549605C>ACA419145247DPYDc.1479G>T (p.Val493=)
c.1368G>T (p.Val456=)
c.984G>T (p.Val328=)
1g.97549605C=CA1182917402DPYDc.1479G= (p.Val493=)
c.1368G= (p.Val456=)
c.984G= (p.Val328=)
1g.97549605C>GCA419145248DPYDc.1479G>C (p.Val493=)
c.1368G>C (p.Val456=)
c.984G>C (p.Val328=)
1g.97549605C>TCA419145249DPYDc.1479G>A (p.Val493=)
c.1368G>A (p.Val456=)
c.984G>A (p.Val328=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.97549606A>CCA341377514DPYDc.1478T>G (p.Val493Gly)
c.1367T>G (p.Val456Gly)
c.983T>G (p.Val328Gly)
1g.97549606A>GCA341377516DPYDc.1478T>C (p.Val493Ala)
c.1367T>C (p.Val456Ala)
c.983T>C (p.Val328Ala)
 gnomAD v4
1g.97549606A>TCA341377518DPYDc.1478T>A (p.Val493Glu)
c.1367T>A (p.Val456Glu)
c.983T>A (p.Val328Glu)
1g.97549607C>ACA341377523DPYDc.1477G>T (p.Val493Leu)
c.1366G>T (p.Val456Leu)
c.982G>T (p.Val328Leu)
1g.97549607C=CA1182917403DPYDc.1477G= (p.Val493=)
c.1366G= (p.Val456=)
c.982G= (p.Val328=)
1g.97549607C>GCA341377531DPYDc.1477G>C (p.Val493Leu)
c.1366G>C (p.Val456Leu)
c.982G>C (p.Val328Leu)
1g.97549607C>TCA341377526DPYDc.1477G>A (p.Val493Met)
c.1366G>A (p.Val456Met)
c.982G>A (p.Val328Met)
 dbSNP gnomAD v2 gnomAD v4
1g.97549608delCA2744701770DPYDc.1477del (p.Val493Ter)
c.1366del (p.Val456Ter)
c.982del (p.Val328Ter)
1g.97549608C>ACA419145251DPYDc.1476G>T (p.Ser492=)
c.1365G>T (p.Ser455=)
c.981G>T (p.Ser327=)
1g.97549608C=CA1182917404DPYDc.1476G= (p.Ser492=)
c.1365G= (p.Ser455=)
c.981G= (p.Ser327=)
1g.97549608C>GCA419145253DPYDc.1476G>C (p.Ser492=)
c.1365G>C (p.Ser455=)
c.981G>C (p.Ser327=)
1g.97549608C>TCA963339DPYDc.1476G>A (p.Ser492=)
c.1365G>A (p.Ser455=)
c.981G>A (p.Ser327=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549609G>ACA963340DPYDc.1475C>T (p.Ser492Leu)
c.1364C>T (p.Ser455Leu)
c.980C>T (p.Ser327Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97549609G>CCA341377534DPYDc.1475C>G (p.Ser492Trp)
c.1364C>G (p.Ser455Trp)
c.980C>G (p.Ser327Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.97549609G=CA1140803050DPYDc.1475C= (p.Ser492=)
c.1364C= (p.Ser455=)
c.980C= (p.Ser327=)
1g.97549609G>TCA341377536DPYDc.1475C>A (p.Ser492Ter)
c.1364C>A (p.Ser455Ter)
c.980C>A (p.Ser327Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.97549610A>CCA341377538DPYDc.1474T>G (p.Ser492Ala)
c.1363T>G (p.Ser455Ala)
c.979T>G (p.Ser327Ala)
 gnomAD v4
1g.97549610A>GCA341377540DPYDc.1474T>C (p.Ser492Pro)
c.1363T>C (p.Ser455Pro)
c.979T>C (p.Ser327Pro)
1g.97549610A>TCA341377542DPYDc.1474T>A (p.Ser492Thr)
c.1363T>A (p.Ser455Thr)
c.979T>A (p.Ser327Thr)
1g.97549611T>ACA341377543DPYDc.1473A>T (p.Glu491Asp)
c.1362A>T (p.Glu454Asp)
c.978A>T (p.Glu326Asp)
1g.97549611T>CCA419145255DPYDc.1473A>G (p.Glu491=)
c.1362A>G (p.Glu454=)
c.978A>G (p.Glu326=)
 dbSNP
1g.97549611T>GCA27517953DPYDc.1473A>C (p.Glu491Asp)
c.1362A>C (p.Glu454Asp)
c.978A>C (p.Glu326Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97549611T=CA1182917405DPYDc.1473A= (p.Glu491=)
c.1362A= (p.Glu454=)
c.978A= (p.Glu326=)
1g.97549612T>ACA341377544DPYDc.1472A>T (p.Glu491Val)
c.1361A>T (p.Glu454Val)
c.977A>T (p.Glu326Val)
 dbSNP gnomAD v3 gnomAD v4
1g.97549612T>CCA341377545DPYDc.1472A>G (p.Glu491Gly)
c.1361A>G (p.Glu454Gly)
c.977A>G (p.Glu326Gly)
 gnomAD v4
1g.97549612T>GCA341377547DPYDc.1472A>C (p.Glu491Ala)
c.1361A>C (p.Glu454Ala)
c.977A>C (p.Glu326Ala)
1g.97549612T=CA1182917406DPYDc.1472A= (p.Glu491=)
c.1361A= (p.Glu454=)
c.977A= (p.Glu326=)
1g.97549613C>ACA341377550DPYDc.1471G>T (p.Glu491Ter)
c.1360G>T (p.Glu454Ter)
c.976G>T (p.Glu326Ter)
1g.97549613C>GCA341377551DPYDc.1471G>C (p.Glu491Gln)
c.1360G>C (p.Glu454Gln)
c.976G>C (p.Glu326Gln)
1g.97549613C>TCA341377553DPYDc.1471G>A (p.Glu491Lys)
c.1360G>A (p.Glu454Lys)
c.976G>A (p.Glu326Lys)
 gnomAD v4
1g.97549614C>ACA419145258DPYDc.1470G>T (p.Val490=)
c.1359G>T (p.Val453=)
c.975G>T (p.Val325=)
1g.97549614C=CA1182917407DPYDc.1470G= (p.Val490=)
c.1359G= (p.Val453=)
c.975G= (p.Val325=)
1g.97549614C>GCA419145260DPYDc.1470G>C (p.Val490=)
c.1359G>C (p.Val453=)
c.975G>C (p.Val325=)
1g.97549614C>TCA419145261DPYDc.1470G>A (p.Val490=)
c.1359G>A (p.Val453=)
c.975G>A (p.Val325=)
 dbSNP
1g.97549615A=CA1182917408DPYDc.1469T= (p.Val490=)
c.1358T= (p.Val453=)
c.974T= (p.Val325=)
1g.97549615A>CCA341377562DPYDc.1469T>G (p.Val490Gly)
c.1358T>G (p.Val453Gly)
c.974T>G (p.Val325Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.97549615A>GCA341377560DPYDc.1469T>C (p.Val490Ala)
c.1358T>C (p.Val453Ala)
c.974T>C (p.Val325Ala)
1g.97549615A>TCA341377558DPYDc.1469T>A (p.Val490Glu)
c.1358T>A (p.Val453Glu)
c.974T>A (p.Val325Glu)
1g.97549616C>ACA341377563DPYDc.1468G>T (p.Val490Leu)
c.1357G>T (p.Val453Leu)
c.973G>T (p.Val325Leu)
1g.97549616C>GCA341377565DPYDc.1468G>C (p.Val490Leu)
c.1357G>C (p.Val453Leu)
c.973G>C (p.Val325Leu)
1g.97549616C>TCA341377567DPYDc.1468G>A (p.Val490Met)
c.1357G>A (p.Val453Met)
c.973G>A (p.Val325Met)
1g.97549617T>ACA419145263DPYDc.1467A>T (p.Thr489=)
c.1356A>T (p.Thr452=)
c.972A>T (p.Thr324=)
1g.97549617T>CCA419145264DPYDc.1467A>G (p.Thr489=)
c.1356A>G (p.Thr452=)
c.972A>G (p.Thr324=)
1g.97549617T>GCA419145262DPYDc.1467A>C (p.Thr489=)
c.1356A>C (p.Thr452=)
c.972A>C (p.Thr324=)
1g.97549618G>ACA341377569DPYDc.1466C>T (p.Thr489Ile)
c.1355C>T (p.Thr452Ile)
c.971C>T (p.Thr324Ile)
1g.97549618G>CCA341377571DPYDc.1466C>G (p.Thr489Arg)
c.1355C>G (p.Thr452Arg)
c.971C>G (p.Thr324Arg)
1g.97549618G>TCA341377574DPYDc.1466C>A (p.Thr489Lys)
c.1355C>A (p.Thr452Lys)
c.971C>A (p.Thr324Lys)
1g.97549619T>ACA341377576DPYDc.1465A>T (p.Thr489Ser)
c.1354A>T (p.Thr452Ser)
c.970A>T (p.Thr324Ser)
1g.97549619T>CCA963341DPYDc.1465A>G (p.Thr489Ala)
c.1354A>G (p.Thr452Ala)
c.970A>G (p.Thr324Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549619T>GCA341377579DPYDc.1465A>C (p.Thr489Pro)
c.1354A>C (p.Thr452Pro)
c.970A>C (p.Thr324Pro)
1g.97549619T=CA1182917409DPYDc.1465A= (p.Thr489=)
c.1354A= (p.Thr452=)
c.970A= (p.Thr324=)
1g.97549620A=CA1182917410DPYDc.1464T= (p.Thr488=)
c.1353T= (p.Thr451=)
c.969T= (p.Thr323=)
1g.97549620A>CCA419145266DPYDc.1464T>G (p.Thr488=)
c.1353T>G (p.Thr451=)
c.969T>G (p.Thr323=)
1g.97549620A>GCA419145268DPYDc.1464T>C (p.Thr488=)
c.1353T>C (p.Thr451=)
c.969T>C (p.Thr323=)
1g.97549620A>TCA419145270DPYDc.1464T>A (p.Thr488=)
c.1353T>A (p.Thr451=)
c.969T>A (p.Thr323=)
 dbSNP gnomAD v2 gnomAD v4
1g.97549621delCA2646706232DPYDc.1463del (p.Thr488IlefsTer6)
c.1352del (p.Thr451IlefsTer6)
c.968del (p.Thr323IlefsTer6)
 gnomAD v4
1g.97549621G>ACA341377581DPYDc.1463C>T (p.Thr488Ile)
c.1352C>T (p.Thr451Ile)
c.968C>T (p.Thr323Ile)
 dbSNP
1g.97549621G>CCA341377583DPYDc.1463C>G (p.Thr488Ser)
c.1352C>G (p.Thr451Ser)
c.968C>G (p.Thr323Ser)
1g.97549621G=CA1182917411DPYDc.1463C= (p.Thr488=)
c.1352C= (p.Thr451=)
c.968C= (p.Thr323=)
1g.97549621G>TCA341377585DPYDc.1463C>A (p.Thr488Asn)
c.1352C>A (p.Thr451Asn)
c.968C>A (p.Thr323Asn)

Number of alleles fetched