Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.115738275T>ACA341763894CASQ2c.205A>T (p.Ile69Phe)
c.481A>T (p.Ile161Phe)
1g.115738275T>CCA133706CASQ2c.205A>G (p.Ile69Val)
c.481A>G (p.Ile161Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738275T>GCA301891CASQ2c.205A>C (p.Ile69Leu)
c.481A>C (p.Ile161Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738275T=CA1142109115CASQ2c.205A= (p.Ile69=)
c.481A= (p.Ile161=)
1g.115738276G>ACA419895494CASQ2c.204C>T (p.Arg68=)
c.480C>T (p.Arg160=)
1g.115738276G>CCA419895495CASQ2c.204C>G (p.Arg68=)
c.480C>G (p.Arg160=)
1g.115738276G>TCA419895496CASQ2c.204C>A (p.Arg68=)
c.480C>A (p.Arg160=)
1g.115738277C>ACA29603579CASQ2c.203G>T (p.Arg68Leu)
c.479G>T (p.Arg160Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.115738277C=CA1143852368CASQ2c.203G= (p.Arg68=)
c.479G= (p.Arg160=)
1g.115738277C>GCA341763895CASQ2c.203G>C (p.Arg68Pro)
c.479G>C (p.Arg160Pro)
1g.115738277C>TCA175368CASQ2c.203G>A (p.Arg68His)
c.479G>A (p.Arg160His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738277_115738289delinsCGTTCGAAGGCTTCA1190729275CASQ2c.191_203delinsAAGCCTTCGAACG (p.Gln64=)
c.467_479delinsAAGCCTTCGAACG (p.Gln156=)
1g.115738278G>ACA1023898CASQ2c.202C>T (p.Arg68Cys)
c.478C>T (p.Arg160Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738278G>CCA341763896CASQ2c.202C>G (p.Arg68Gly)
c.478C>G (p.Arg160Gly)
1g.115738278G=CA1190729276CASQ2c.202C= (p.Arg68=)
c.478C= (p.Arg160=)
1g.115738278G>TCA341763897CASQ2c.202C>A (p.Arg68Ser)
c.478C>A (p.Arg160Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.115738279_115738290delCA1139656282CASQ2c.191_202del (p.Gln64_Glu67del)
c.467_478del (p.Gln156_Glu159del)
 ClinVar dbSNP
1g.115738279T>ACA341763899CASQ2c.201A>T (p.Glu67Asp)
c.477A>T (p.Glu159Asp)
1g.115738279T>CCA419895497CASQ2c.201A>G (p.Glu67=)
c.477A>G (p.Glu159=)
 gnomAD v4
1g.115738279T>GCA341763898CASQ2c.201A>C (p.Glu67Asp)
c.477A>C (p.Glu159Asp)
1g.115738280T>ACA341763900CASQ2c.200A>T (p.Glu67Val)
c.476A>T (p.Glu159Val)
1g.115738280T>CCA341763901CASQ2c.200A>G (p.Glu67Gly)
c.476A>G (p.Glu159Gly)
1g.115738280T>GCA341763902CASQ2c.200A>C (p.Glu67Ala)
c.476A>C (p.Glu159Ala)
 dbSNP gnomAD v4
1g.115738280T=CA1190729277CASQ2c.200A= (p.Glu67=)
c.476A= (p.Glu159=)
1g.115738281C>ACA1023900CASQ2c.199G>T (p.Glu67Ter)
c.475G>T (p.Glu159Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738281C=CA1144070748CASQ2c.199G= (p.Glu67=)
c.475G= (p.Glu159=)
1g.115738281C>GCA1023901CASQ2c.199G>C (p.Glu67Gln)
c.475G>C (p.Glu159Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738281C>TCA1023899CASQ2c.199G>A (p.Glu67Lys)
c.475G>A (p.Glu159Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115738282G>ACA1023902CASQ2c.198C>T (p.Phe66=)
c.474C>T (p.Phe158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115738282G>CCA341763903CASQ2c.198C>G (p.Phe66Leu)
c.474C>G (p.Phe158Leu)
1g.115738282G=CA1190729278CASQ2c.198C= (p.Phe66=)
c.474C= (p.Phe158=)
1g.115738282G>TCA341763904CASQ2c.198C>A (p.Phe66Leu)
c.474C>A (p.Phe158Leu)
1g.115738283A>CCA341763905CASQ2c.197T>G (p.Phe66Cys)
c.473T>G (p.Phe158Cys)
1g.115738283A>GCA341763906CASQ2c.197T>C (p.Phe66Ser)
c.473T>C (p.Phe158Ser)
1g.115738283A>TCA341763907CASQ2c.197T>A (p.Phe66Tyr)
c.473T>A (p.Phe158Tyr)
1g.115738284A>CCA341763910CASQ2c.196T>G (p.Phe66Val)
c.472T>G (p.Phe158Val)
1g.115738284A>GCA341763909CASQ2c.196T>C (p.Phe66Leu)
c.472T>C (p.Phe158Leu)
1g.115738284A>TCA341763908CASQ2c.196T>A (p.Phe66Ile)
c.472T>A (p.Phe158Ile)
1g.115738285G>ACA419895498CASQ2c.195C>T (p.Ala65=)
c.471C>T (p.Ala157=)
 dbSNP
1g.115738285G>CCA419895499CASQ2c.195C>G (p.Ala65=)
c.471C>G (p.Ala157=)
1g.115738285G>TCA419895500CASQ2c.195C>A (p.Ala65=)
c.471C>A (p.Ala157=)
1g.115738286G>ACA341763911CASQ2c.194C>T (p.Ala65Val)
c.470C>T (p.Ala157Val)
1g.115738286G>CCA341763912CASQ2c.194C>G (p.Ala65Gly)
c.470C>G (p.Ala157Gly)
1g.115738286G=CA1190729279CASQ2c.194C= (p.Ala65=)
c.470C= (p.Ala157=)
1g.115738286G>TCA341763913CASQ2c.194C>A (p.Ala65Asp)
c.470C>A (p.Ala157Asp)
 dbSNP gnomAD v4
1g.115738287C>ACA341763914CASQ2c.193G>T (p.Ala65Ser)
c.469G>T (p.Ala157Ser)
1g.115738287C=CA1190729280CASQ2c.193G= (p.Ala65=)
c.469G= (p.Ala157=)
1g.115738287C>GCA1023903CASQ2c.193G>C (p.Ala65Pro)
c.469G>C (p.Ala157Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738287C>TCA29603610CASQ2c.193G>A (p.Ala65Thr)
c.469G>A (p.Ala157Thr)
 dbSNP gnomAD v4
1g.115738288T>ACA341763916CASQ2c.192A>T (p.Gln64His)
c.468A>T (p.Gln156His)
1g.115738288T>CCA419895501CASQ2c.192A>G (p.Gln64=)
c.468A>G (p.Gln156=)
 gnomAD v4
1g.115738288T>GCA341763915CASQ2c.192A>C (p.Gln64His)
c.468A>C (p.Gln156His)
1g.115738289T>ACA341763917CASQ2c.191A>T (p.Gln64Leu)
c.467A>T (p.Gln156Leu)
1g.115738289T>CCA341763918CASQ2c.191A>G (p.Gln64Arg)
c.467A>G (p.Gln156Arg)
1g.115738289T>GCA341763919CASQ2c.191A>C (p.Gln64Pro)
c.467A>C (p.Gln156Pro)
1g.115738290G>ACA341763920CASQ2c.190C>T (p.Gln64Ter)
c.466C>T (p.Gln156Ter)
 ClinVar dbSNP gnomAD v4
1g.115738290G>CCA341763921CASQ2c.190C>G (p.Gln64Glu)
c.466C>G (p.Gln156Glu)
1g.115738290G=CA1190729281CASQ2c.190C= (p.Gln64=)
c.466C= (p.Gln156=)
1g.115738290G>TCA341763922CASQ2c.190C>A (p.Gln64Lys)
c.466C>A (p.Gln156Lys)
1g.115738291G>ACA419895502CASQ2c.189C>T (p.Val63=)
c.465C>T (p.Val155=)
1g.115738291G>CCA419895503CASQ2c.189C>G (p.Val63=)
c.465C>G (p.Val155=)
1g.115738291G>TCA419895504CASQ2c.189C>A (p.Val63=)
c.465C>A (p.Val155=)
1g.115738292A=CA1148722843CASQ2c.188T= (p.Val63=)
c.464T= (p.Val155=)
1g.115738292A>CCA341763923CASQ2c.188T>G (p.Val63Gly)
c.464T>G (p.Val155Gly)
 gnomAD v4
1g.115738292A>GCA1023904CASQ2c.188T>C (p.Val63Ala)
c.464T>C (p.Val155Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738292A>TCA341763924CASQ2c.188T>A (p.Val63Asp)
c.464T>A (p.Val155Asp)
1g.115738293C>ACA341763925CASQ2c.187G>T (p.Val63Phe)
c.463G>T (p.Val155Phe)
1g.115738293C>GCA341763926CASQ2c.187G>C (p.Val63Leu)
c.463G>C (p.Val155Leu)
1g.115738293C>TCA341763927CASQ2c.187G>A (p.Val63Ile)
c.463G>A (p.Val155Ile)
1g.115738294T>ACA341763928CASQ2c.186A>T (p.Glu62Asp)
c.462A>T (p.Glu154Asp)
1g.115738294T>CCA419895505CASQ2c.186A>G (p.Glu62=)
c.462A>G (p.Glu154=)
1g.115738294T>GCA341763929CASQ2c.186A>C (p.Glu62Asp)
c.462A>C (p.Glu154Asp)
 dbSNP
1g.115738294T=CA1190729282CASQ2c.186A= (p.Glu62=)
c.462A= (p.Glu154=)
1g.115738295T>ACA341763930CASQ2c.185A>T (p.Glu62Val)
c.461A>T (p.Glu154Val)
 dbSNP gnomAD v2 gnomAD v4
1g.115738295T>CCA341763931CASQ2c.185A>G (p.Glu62Gly)
c.461A>G (p.Glu154Gly)
1g.115738295T>GCA341763932CASQ2c.185A>C (p.Glu62Ala)
c.461A>C (p.Glu154Ala)
1g.115738295T=CA1190729283CASQ2c.185A= (p.Glu62=)
c.461A= (p.Glu154=)
1g.115738296C>ACA341763933CASQ2c.184G>T (p.Glu62Ter)
c.460G>T (p.Glu154Ter)
1g.115738296C>GCA341763934CASQ2c.184G>C (p.Glu62Gln)
c.460G>C (p.Glu154Gln)
1g.115738296C>TCA341763935CASQ2c.184G>A (p.Glu62Lys)
c.460G>A (p.Glu154Lys)
1g.115738297C>ACA419895507CASQ2c.183G>T (p.Leu61=)
c.459G>T (p.Leu153=)
1g.115738297C=CA1190729284CASQ2c.183G= (p.Leu61=)
c.459G= (p.Leu153=)
1g.115738297C>GCA419895508CASQ2c.183G>C (p.Leu61=)
c.459G>C (p.Leu153=)
1g.115738297C>TCA419895506CASQ2c.183G>A (p.Leu61=)
c.459G>A (p.Leu153=)
 dbSNP
1g.115738298A=CA1190729285CASQ2c.182T= (p.Leu61=)
c.458T= (p.Leu153=)
1g.115738298A>CCA341763937CASQ2c.182T>G (p.Leu61Arg)
c.458T>G (p.Leu153Arg)
1g.115738298A>GCA341763938CASQ2c.182T>C (p.Leu61Pro)
c.458T>C (p.Leu153Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.115738298A>TCA341763936CASQ2c.182T>A (p.Leu61Gln)
c.458T>A (p.Leu153Gln)
1g.115738299G>ACA419895509CASQ2c.181C>T (p.Leu61=)
c.457C>T (p.Leu153=)
1g.115738299G>CCA341763939CASQ2c.181C>G (p.Leu61Val)
c.457C>G (p.Leu153Val)
1g.115738299G>TCA341763940CASQ2c.181C>A (p.Leu61Met)
c.457C>A (p.Leu153Met)
 gnomAD v4
1g.115738300T>ACA341763941CASQ2c.180A>T (p.Lys60Asn)
c.456A>T (p.Lys152Asn)
1g.115738300T>CCA419895510CASQ2c.180A>G (p.Lys60=)
c.456A>G (p.Lys152=)
1g.115738300T>GCA341763942CASQ2c.180A>C (p.Lys60Asn)
c.456A>C (p.Lys152Asn)
1g.115738301T>ACA341763943CASQ2c.179A>T (p.Lys60Ile)
c.455A>T (p.Lys152Ile)
1g.115738301T>CCA341763944CASQ2c.179A>G (p.Lys60Arg)
c.455A>G (p.Lys152Arg)
1g.115738301T>GCA341763945CASQ2c.179A>C (p.Lys60Thr)
c.455A>C (p.Lys152Thr)
1g.115738302T>ACA341763946CASQ2c.178A>T (p.Lys60Ter)
c.454A>T (p.Lys152Ter)
1g.115738302T>CCA341763947CASQ2c.178A>G (p.Lys60Glu)
c.454A>G (p.Lys152Glu)
1g.115738302T>GCA341763948CASQ2c.178A>C (p.Lys60Gln)
c.454A>C (p.Lys152Gln)
1g.115738303G>ACA419895511CASQ2c.177C>T (p.Ser59=)
c.453C>T (p.Ser151=)
1g.115738303G>CCA341763949CASQ2c.177C>G (p.Ser59Arg)
c.453C>G (p.Ser151Arg)
1g.115738303G>TCA341763950CASQ2c.177C>A (p.Ser59Arg)
c.453C>A (p.Ser151Arg)
1g.115738304C>ACA341763951CASQ2c.176G>T (p.Ser59Ile)
c.452G>T (p.Ser151Ile)
1g.115738304C>GCA341763952CASQ2c.176G>C (p.Ser59Thr)
c.452G>C (p.Ser151Thr)
1g.115738304C>TCA341763953CASQ2c.176G>A (p.Ser59Asn)
c.452G>A (p.Ser151Asn)
1g.115738305T>ACA341763956CASQ2c.175A>T (p.Ser59Cys)
c.451A>T (p.Ser151Cys)
 gnomAD v4
1g.115738305T>CCA341763955CASQ2c.175A>G (p.Ser59Gly)
c.451A>G (p.Ser151Gly)
1g.115738305T>GCA341763954CASQ2c.175A>C (p.Ser59Arg)
c.451A>C (p.Ser151Arg)
1g.115738306G>ACA419895512CASQ2c.174C>T (p.Ser58=)
c.450C>T (p.Ser150=)
1g.115738306G>CCA341763957CASQ2c.174C>G (p.Ser58Arg)
c.450C>G (p.Ser150Arg)
1g.115738306G>TCA341763958CASQ2c.174C>A (p.Ser58Arg)
c.450C>A (p.Ser150Arg)
1g.115738307C>ACA1023905CASQ2c.173G>T (p.Ser58Ile)
c.449G>T (p.Ser150Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738307C=CA1190729286CASQ2c.173G= (p.Ser58=)
c.449G= (p.Ser150=)
1g.115738307C>GCA341763959CASQ2c.173G>C (p.Ser58Thr)
c.449G>C (p.Ser150Thr)
1g.115738307C>TCA341763960CASQ2c.173G>A (p.Ser58Asn)
c.449G>A (p.Ser150Asn)
 COSMIC
1g.115738308T>ACA341763961CASQ2c.172A>T (p.Ser58Cys)
c.448A>T (p.Ser150Cys)
1g.115738308T>CCA341763962CASQ2c.172A>G (p.Ser58Gly)
c.448A>G (p.Ser150Gly)
1g.115738308T>GCA341763963CASQ2c.172A>C (p.Ser58Arg)
c.448A>C (p.Ser150Arg)
 gnomAD v4
1g.115738309G>ACA419895513CASQ2c.171C>T (p.Ile57=)
c.447C>T (p.Ile149=)
 gnomAD v4
1g.115738309G>CCA341763964CASQ2c.171C>G (p.Ile57Met)
c.447C>G (p.Ile149Met)
1g.115738309G>TCA419895514CASQ2c.171C>A (p.Ile57=)
c.447C>A (p.Ile149=)
1g.115738310A=CA1190729287CASQ2c.170T= (p.Ile57=)
c.446T= (p.Ile149=)
1g.115738310A>CCA16609858CASQ2c.170T>G (p.Ile57Ser)
c.446T>G (p.Ile149Ser)
 ClinVar dbSNP
1g.115738310A>GCA341763965CASQ2c.170T>C (p.Ile57Thr)
c.446T>C (p.Ile149Thr)
 gnomAD v4
1g.115738310A>TCA341763966CASQ2c.170T>A (p.Ile57Asn)
c.446T>A (p.Ile149Asn)
 gnomAD v4
1g.115738311T>ACA341763969CASQ2c.169A>T (p.Ile57Phe)
c.445A>T (p.Ile149Phe)
1g.115738311T>CCA341763968CASQ2c.169A>G (p.Ile57Val)
c.445A>G (p.Ile149Val)
 gnomAD v4
1g.115738311T>GCA341763967CASQ2c.169A>C (p.Ile57Leu)
c.445A>C (p.Ile149Leu)
1g.115738312G>ACA419895515CASQ2c.168C>T (p.Ile56=)
c.444C>T (p.Ile148=)
 ClinVar
1g.115738312G>CCA341763970CASQ2c.168C>G (p.Ile56Met)
c.444C>G (p.Ile148Met)
1g.115738312G>TCA419895516CASQ2c.168C>A (p.Ile56=)
c.444C>A (p.Ile148=)
 gnomAD v4
1g.115738313A>CCA341763971CASQ2c.167T>G (p.Ile56Ser)
c.443T>G (p.Ile148Ser)
1g.115738313A>GCA341763972CASQ2c.167T>C (p.Ile56Thr)
c.443T>C (p.Ile148Thr)
1g.115738313A>TCA341763973CASQ2c.167T>A (p.Ile56Asn)
c.443T>A (p.Ile148Asn)
1g.115738314T>ACA341763974CASQ2c.166A>T (p.Ile56Phe)
c.442A>T (p.Ile148Phe)
1g.115738314T>CCA341763975CASQ2c.166A>G (p.Ile56Val)
c.442A>G (p.Ile148Val)
1g.115738314T>GCA341763976CASQ2c.166A>C (p.Ile56Leu)
c.442A>C (p.Ile148Leu)
1g.115738315C>ACA341763977CASQ2c.165G>T (p.Glu55Asp)
c.441G>T (p.Glu147Asp)
1g.115738315C>GCA341763978CASQ2c.165G>C (p.Glu55Asp)
c.441G>C (p.Glu147Asp)
1g.115738315C>TCA419895517CASQ2c.165G>A (p.Glu55=)
c.441G>A (p.Glu147=)
 gnomAD v4
1g.115738316T>ACA341763979CASQ2c.164A>T (p.Glu55Val)
c.440A>T (p.Glu147Val)
1g.115738316T>CCA341763980CASQ2c.164A>G (p.Glu55Gly)
c.440A>G (p.Glu147Gly)
 ClinVar dbSNP
1g.115738316T>GCA341763981CASQ2c.164A>C (p.Glu55Ala)
c.440A>C (p.Glu147Ala)
1g.115738316T=CA1190729288CASQ2c.164A= (p.Glu55=)
c.440A= (p.Glu147=)
1g.115738317C>ACA341763984CASQ2c.163G>T (p.Glu55Ter)
c.439G>T (p.Glu147Ter)
1g.115738317C>GCA341763982CASQ2c.163G>C (p.Glu55Gln)
c.439G>C (p.Glu147Gln)
1g.115738317C>TCA341763983CASQ2c.163G>A (p.Glu55Lys)
c.439G>A (p.Glu147Lys)
1g.115738318C>ACA419895519CASQ2c.162G>T (p.Val54=)
c.438G>T (p.Val146=)
1g.115738318C=CA1190729289CASQ2c.162G= (p.Val54=)
c.438G= (p.Val146=)
1g.115738318C>GCA419895520CASQ2c.162G>C (p.Val54=)
c.438G>C (p.Val146=)
1g.115738318C>TCA419895521CASQ2c.162G>A (p.Val54=)
c.438G>A (p.Val146=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.115738319A=CA1190729290CASQ2c.161T= (p.Val54=)
c.437T= (p.Val146=)
1g.115738319A>CCA341763985CASQ2c.161T>G (p.Val54Gly)
c.437T>G (p.Val146Gly)
 dbSNP
1g.115738319A>GCA341763986CASQ2c.161T>C (p.Val54Ala)
c.437T>C (p.Val146Ala)
 COSMIC
1g.115738319A>TCA341763987CASQ2c.161T>A (p.Val54Glu)
c.437T>A (p.Val146Glu)
1g.115738320C>ACA341763988CASQ2c.160G>T (p.Val54Leu)
c.436G>T (p.Val146Leu)
 dbSNP
1g.115738320C=CA1190729291CASQ2c.160G= (p.Val54=)
c.436G= (p.Val146=)
1g.115738320C>GCA341763989CASQ2c.160G>C (p.Val54Leu)
c.436G>C (p.Val146Leu)
1g.115738320C>TCA341763990CASQ2c.160G>A (p.Val54Met)
c.436G>A (p.Val146Met)
1g.115738321T>ACA419895522CASQ2c.159A>T (p.Pro53=)
c.435A>T (p.Pro145=)
1g.115738321T>CCA419895523CASQ2c.159A>G (p.Pro53=)
c.435A>G (p.Pro145=)
 ClinVar dbSNP gnomAD v4
1g.115738321T>GCA419895524CASQ2c.159A>C (p.Pro53=)
c.435A>C (p.Pro145=)
1g.115738321T=CA1190729292CASQ2c.159A= (p.Pro53=)
c.435A= (p.Pro145=)
1g.115738322G>ACA341763991CASQ2c.158C>T (p.Pro53Leu)
c.434C>T (p.Pro145Leu)
 dbSNP
1g.115738322G>CCA341763992CASQ2c.158C>G (p.Pro53Arg)
c.434C>G (p.Pro145Arg)
1g.115738322G=CA1190729293CASQ2c.158C= (p.Pro53=)
c.434C= (p.Pro145=)
1g.115738322G>TCA341763993CASQ2c.158C>A (p.Pro53Gln)
c.434C>A (p.Pro145Gln)
 gnomAD v4
1g.115738323G>ACA1023906CASQ2c.157C>T (p.Pro53Ser)
c.433C>T (p.Pro145Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738323G>CCA341763994CASQ2c.157C>G (p.Pro53Ala)
c.433C>G (p.Pro145Ala)
1g.115738323G=CA1190729294CASQ2c.157C= (p.Pro53=)
c.433C= (p.Pro145=)
1g.115738323G>TCA341763995CASQ2c.157C>A (p.Pro53Thr)
c.433C>A (p.Pro145Thr)
1g.115738324G>ACA419895525CASQ2c.156C>T (p.Asp52=)
c.432C>T (p.Asp144=)
 ClinVar dbSNP gnomAD v4
1g.115738324G>CCA1023907CASQ2c.156C>G (p.Asp52Glu)
c.432C>G (p.Asp144Glu)
 dbSNP ExAC gnomAD v2
1g.115738324G=CA1148404421CASQ2c.156C= (p.Asp52=)
c.432C= (p.Asp144=)
1g.115738324G>TCA341763996CASQ2c.156C>A (p.Asp52Glu)
c.432C>A (p.Asp144Glu)
1g.115738325T>ACA341763997CASQ2c.155A>T (p.Asp52Val)
c.431A>T (p.Asp144Val)
1g.115738325T>CCA341763998CASQ2c.155A>G (p.Asp52Gly)
c.431A>G (p.Asp144Gly)
1g.115738325T>GCA341763999CASQ2c.155A>C (p.Asp52Ala)
c.431A>C (p.Asp144Ala)
1g.115738326C>ACA341764000CASQ2c.154G>T (p.Asp52Tyr)
c.430G>T (p.Asp144Tyr)
1g.115738326C>GCA341764001CASQ2c.154G>C (p.Asp52His)
c.430G>C (p.Asp144His)
1g.115738326C>TCA341764002CASQ2c.154G>A (p.Asp52Asn)
c.430G>A (p.Asp144Asn)
1g.115738327T>ACA341764003CASQ2c.153A>T (p.Glu51Asp)
c.429A>T (p.Glu143Asp)
1g.115738327T>CCA419895527CASQ2c.153A>G (p.Glu51=)
c.429A>G (p.Glu143=)
 gnomAD v4
1g.115738327T>GCA341764004CASQ2c.153A>C (p.Glu51Asp)
c.429A>C (p.Glu143Asp)
1g.115738328T>ACA341764005CASQ2c.152A>T (p.Glu51Val)
c.428A>T (p.Glu143Val)
1g.115738328T>CCA341764007CASQ2c.152A>G (p.Glu51Gly)
c.428A>G (p.Glu143Gly)
1g.115738328T>GCA341764006CASQ2c.152A>C (p.Glu51Ala)
c.428A>C (p.Glu143Ala)
1g.115738329C>ACA341764008CASQ2c.151G>T (p.Glu51Ter)
c.427G>T (p.Glu143Ter)
 gnomAD v4
1g.115738329C>GCA341764009CASQ2c.151G>C (p.Glu51Gln)
c.427G>C (p.Glu143Gln)
1g.115738329C>TCA341764010CASQ2c.151G>A (p.Glu51Lys)
c.427G>A (p.Glu143Lys)
 gnomAD v4 COSMIC
1g.115738330A=CA1190729295CASQ2c.150T= (p.Ile50=)
c.426T= (p.Ile142=)
1g.115738330A>CCA341764011CASQ2c.150T>G (p.Ile50Met)
c.426T>G (p.Ile142Met)
1g.115738330A>GCA419895529CASQ2c.150T>C (p.Ile50=)
c.426T>C (p.Ile142=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.115738330A>TCA419895528CASQ2c.150T>A (p.Ile50=)
c.426T>A (p.Ile142=)
1g.115738331A=CA1190729296CASQ2c.149T= (p.Ile50=)
c.425T= (p.Ile142=)
1g.115738331A>CCA341764012CASQ2c.149T>G (p.Ile50Ser)
c.425T>G (p.Ile142Ser)
1g.115738331A>GCA341764014CASQ2c.149T>C (p.Ile50Thr)
c.425T>C (p.Ile142Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.115738331A>TCA341764013CASQ2c.149T>A (p.Ile50Asn)
c.425T>A (p.Ile142Asn)
1g.115738332T>ACA341764015CASQ2c.148A>T (p.Ile50Phe)
c.424A>T (p.Ile142Phe)
1g.115738332T>CCA341764016CASQ2c.148A>G (p.Ile50Val)
c.424A>G (p.Ile142Val)
1g.115738332T>GCA341764017CASQ2c.148A>C (p.Ile50Leu)
c.424A>C (p.Ile142Leu)
1g.115738333T>ACA419895530CASQ2c.147A>T (p.Leu49=)
c.423A>T (p.Leu141=)
1g.115738333T>CCA1023908CASQ2c.147A>G (p.Leu49=)
c.423A>G (p.Leu141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738333T>GCA419895531CASQ2c.147A>C (p.Leu49=)
c.423A>C (p.Leu141=)
 gnomAD v4
1g.115738333T=CA1190729297CASQ2c.147A= (p.Leu49=)
c.423A= (p.Leu141=)
1g.115738334A=CA1190729298CASQ2c.146T= (p.Leu49=)
c.422T= (p.Leu141=)
1g.115738334A>CCA341764018CASQ2c.146T>G (p.Leu49Arg)
c.422T>G (p.Leu141Arg)
 ClinVar dbSNP gnomAD v4
1g.115738334A>GCA341764019CASQ2c.146T>C (p.Leu49Pro)
c.422T>C (p.Leu141Pro)
 gnomAD v4
1g.115738334A>TCA341764020CASQ2c.146T>A (p.Leu49Gln)
c.422T>A (p.Leu141Gln)
 COSMIC
1g.115738335G>ACA419895532CASQ2c.145C>T (p.Leu49=)
c.421C>T (p.Leu141=)
 ClinVar dbSNP gnomAD v4
1g.115738335G>CCA341764021CASQ2c.145C>G (p.Leu49Val)
c.421C>G (p.Leu141Val)
1g.115738335G=CA1190729299CASQ2c.145C= (p.Leu49=)
c.421C= (p.Leu141=)
1g.115738335G>TCA341764022CASQ2c.145C>A (p.Leu49Ile)
c.421C>A (p.Leu141Ile)
 gnomAD v4
1g.115738336C>ACA341764023CASQ2c.145-1G>T (n.145-1G>T)
c.421-1G>T (n.421-1G>T)
1g.115738336C>GCA341764024CASQ2c.145-1G>C (n.145-1G>C)
c.421-1G>C (n.421-1G>C)
1g.115738336C>TCA341764025CASQ2c.145-1G>A (n.145-1G>A)
c.421-1G>A (n.421-1G>A)
 gnomAD v4
1g.115738337T>ACA341764026CASQ2c.145-2A>T (n.145-2A>T)
c.421-2A>T (n.421-2A>T)
1g.115738337T>CCA341764028CASQ2c.145-2A>G (n.145-2A>G)
c.421-2A>G (n.421-2A>G)
 gnomAD v4
1g.115738337T>GCA341764027CASQ2c.145-2A>C (n.145-2A>C)
c.421-2A>C (n.421-2A>C)
1g.115738338G>ACA2574037243CASQ2c.145-3C>T (n.145-3C>T)
c.421-3C>T (n.421-3C>T)
 gnomAD v4
1g.115738338G>TCA2647280078CASQ2c.145-3C>A (n.145-3C>A)
c.421-3C>A (n.421-3C>A)
 gnomAD v4
1g.115738339A=CA1190729300CASQ2c.145-4T= (n.145-4T=)
c.421-4T= (n.421-4T=)
1g.115738339A>GCA1190729301CASQ2c.145-4T>C (n.145-4T>C)
c.421-4T>C (n.421-4T>C)
 dbSNP
1g.115738341A>GCA2647280079CASQ2c.145-6T>C (n.145-6T>C)
c.421-6T>C (n.421-6T>C)
 gnomAD v4
1g.115738342T>ACA1023909CASQ2c.145-7A>T (n.145-7A>T)
c.421-7A>T (n.421-7A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738342T>CCA2647280080CASQ2c.145-7A>G (n.145-7A>G)
c.421-7A>G (n.421-7A>G)
 gnomAD v4
1g.115738342T=CA1190729302CASQ2c.145-7A= (n.145-7A=)
c.421-7A= (n.421-7A=)
1g.115738343G>TCA2647280081CASQ2c.145-8C>A (n.145-8C>A)
c.421-8C>A (n.421-8C>A)
 gnomAD v4
1g.115738344C=CA1190729303CASQ2c.145-9G= (n.145-9G=)
c.421-9G= (n.421-9G=)
1g.115738344C>GCA2647280082CASQ2c.145-9G>C (n.145-9G>C)
c.421-9G>C (n.421-9G>C)
 gnomAD v4
1g.115738344C>TCA525428132CASQ2c.145-9G>A (n.145-9G>A)
c.421-9G>A (n.421-9G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.115738345delCA2574037244CASQ2c.145-9del (n.145-9del)
c.421-9del (n.421-9del)
 gnomAD v4
1g.115738344_115738345insACA2647280083CASQ2c.145-10_145-9insT (n.145-10_145-9insT)
c.421-10_421-9insT (n.421-10_421-9insT)
 gnomAD v4
1g.115738345C>TCA2647280084CASQ2c.145-10G>A (n.145-10G>A)
c.421-10G>A (n.421-10G>A)
 gnomAD v4
1g.115738348_115738349delCA2574037245CASQ2c.145-11_145-10del (n.145-11_145-10del)
c.421-11_421-10del (n.421-11_421-10del)
1g.115738346A>CCA2647280085CASQ2c.145-11T>G (n.145-11T>G)
c.421-11T>G (n.421-11T>G)
 gnomAD v4
1g.115738346A>TCA2647280086CASQ2c.145-11T>A (n.145-11T>A)
c.421-11T>A (n.421-11T>A)
 gnomAD v4
1g.115738347C=CA1190729304CASQ2c.145-12G= (n.145-12G=)
c.421-12G= (n.421-12G=)
1g.115738347C>TCA1190729305CASQ2c.145-12G>A (n.145-12G>A)
c.421-12G>A (n.421-12G>A)
 dbSNP gnomAD v4
1g.115738348A>GCA2647280087CASQ2c.145-13T>C (n.145-13T>C)
c.421-13T>C (n.421-13T>C)
 gnomAD v4
1g.115738349C>ACA1006061724CASQ2c.145-14G>T (n.145-14G>T)
c.421-14G>T (n.421-14G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.115738349C=CA1141670386CASQ2c.145-14G= (n.145-14G=)
c.421-14G= (n.421-14G=)
1g.115738349C>GCA2647280088CASQ2c.145-14G>C (n.145-14G>C)
c.421-14G>C (n.421-14G>C)
 gnomAD v4
1g.115738349C>TCA210965CASQ2c.145-14G>A (n.145-14G>A)
c.421-14G>A (n.421-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738350_115738351delCA2574037246CASQ2c.145-15_145-14del (n.145-15_145-14del)
c.421-15_421-14del (n.421-15_421-14del)
1g.115738350G>ACA133705CASQ2c.145-15C>T (n.145-15C>T)
c.421-15C>T (n.421-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738350G>CCA133704CASQ2c.145-15C>G (n.145-15C>G)
c.421-15C>G (n.421-15C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738350G=CA1143384825CASQ2c.145-15C= (n.145-15C=)
c.421-15C= (n.421-15C=)
1g.115738350G>TCA2574037247CASQ2c.145-15C>A (n.145-15C>A)
c.421-15C>A (n.421-15C>A)
 gnomAD v4
1g.115738351C>ACA2647280089CASQ2c.145-16G>T (n.145-16G>T)
c.421-16G>T (n.421-16G>T)
 gnomAD v4
1g.115738351C>TCA2647280090CASQ2c.145-16G>A (n.145-16G>A)
c.421-16G>A (n.421-16G>A)
 gnomAD v4
1g.115738352A>GCA2647280092CASQ2c.145-17T>C (n.145-17T>C)
c.421-17T>C (n.421-17T>C)
 gnomAD v4
1g.115738352A>TCA2647280091CASQ2c.145-17T>A (n.145-17T>A)
c.421-17T>A (n.421-17T>A)
 gnomAD v4
1g.115738353C=CA1143534244CASQ2c.145-18G= (n.145-18G=)
c.421-18G= (n.421-18G=)
1g.115738353C>GCA1023910CASQ2c.145-18G>C (n.145-18G>C)
c.421-18G>C (n.421-18G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738353C>TCA2647280093CASQ2c.145-18G>A (n.145-18G>A)
c.421-18G>A (n.421-18G>A)
 gnomAD v4
1g.115738354A>TCA2647280094CASQ2c.145-19T>A (n.145-19T>A)
c.421-19T>A (n.421-19T>A)
 gnomAD v4
1g.115738354_115738356delCA2745159024CASQ2c.145-21_145-19del (n.145-21_145-19del)
c.421-21_421-19del (n.421-21_421-19del)
1g.115738355delCA2647280095CASQ2c.145-20del (n.145-20del)
c.421-20del (n.421-20del)
 gnomAD v4
1g.115738355T>ACA1023911CASQ2c.145-20A>T (n.145-20A>T)
c.421-20A>T (n.421-20A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738355T>CCA2647280096CASQ2c.145-20A>G (n.145-20A>G)
c.421-20A>G (n.421-20A>G)
 gnomAD v4
1g.115738355T=CA1143490710CASQ2c.145-20A= (n.145-20A=)
c.421-20A= (n.421-20A=)
1g.115738355_115738357delinsTACCA1190729306CASQ2c.145-22_145-20delinsGTA (n.145-22_145-20delinsGTA)
c.421-22_421-20delinsGTA (n.421-22_421-20delinsGTA)
1g.115738361_115738362delCA1023912CASQ2c.145-22_145-21del (n.145-22_145-21del)
c.421-22_421-21del (n.421-22_421-21del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738357C>ACA525428141CASQ2c.145-22G>T (n.145-22G>T)
c.421-22G>T (n.421-22G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.115738357C=CA1190729307CASQ2c.145-22G= (n.145-22G=)
c.421-22G= (n.421-22G=)
1g.115738357C>TCA1023913CASQ2c.145-22G>A (n.145-22G>A)
c.421-22G>A (n.421-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738357_115738358insCACA2745159025CASQ2c.145-23_145-22insTG (n.145-23_145-22insTG)
c.421-23_421-22insTG (n.421-23_421-22insTG)
1g.115738358A>TCA646003725CASQ2c.145-23T>A (n.145-23T>A)
c.421-23T>A (n.421-23T>A)
 COSMIC
1g.115738359C=CA1140803108CASQ2c.145-24G= (n.145-24G=)
c.421-24G= (n.421-24G=)
1g.115738359C>GCA1023914CASQ2c.145-24G>C (n.145-24G>C)
c.421-24G>C (n.421-24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738359C>TCA2647280097CASQ2c.145-24G>A (n.145-24G>A)
c.421-24G>A (n.421-24G>A)
 gnomAD v4
1g.115738361C=CA1190729308CASQ2c.145-26G= (n.145-26G=)
c.421-26G= (n.421-26G=)
1g.115738361C>TCA525428144CASQ2c.145-26G>A (n.145-26G>A)
c.421-26G>A (n.421-26G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.115738362A>CCA2647280098CASQ2c.145-27T>G (n.145-27T>G)
c.421-27T>G (n.421-27T>G)
 gnomAD v4
1g.115738363T>CCA2745159026CASQ2c.145-28A>G (n.145-28A>G)
c.421-28A>G (n.421-28A>G)
1g.115738364G>ACA1023915CASQ2c.145-29C>T (n.145-29C>T)
c.421-29C>T (n.421-29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738364G=CA1190729309CASQ2c.145-29C= (n.145-29C=)
c.421-29C= (n.421-29C=)
1g.115738364G>TCA2574037248CASQ2c.145-29C>A (n.145-29C>A)
c.421-29C>A (n.421-29C>A)
 gnomAD v4
1g.115738367C=CA1190729310CASQ2c.145-32G= (n.145-32G=)
c.421-32G= (n.421-32G=)
1g.115738367C>TCA1190729311CASQ2c.145-32G>A (n.145-32G>A)
c.421-32G>A (n.421-32G>A)
 dbSNP
1g.115738368A=CA1143645878CASQ2c.145-33T= (n.145-33T=)
c.421-33T= (n.421-33T=)
1g.115738368A>GCA1023916CASQ2c.145-33T>C (n.145-33T>C)
c.421-33T>C (n.421-33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738369A>TCA2647280099CASQ2c.145-34T>A (n.145-34T>A)
c.421-34T>A (n.421-34T>A)
 gnomAD v4
1g.115738370A=CA1190729312CASQ2c.145-35T= (n.145-35T=)
c.421-35T= (n.421-35T=)
1g.115738370A>GCA1190729313CASQ2c.145-35T>C (n.145-35T>C)
c.421-35T>C (n.421-35T>C)
 dbSNP gnomAD v4
1g.115738372A>GCA2647280102CASQ2c.145-37T>C (n.145-37T>C)
c.421-37T>C (n.421-37T>C)
 gnomAD v4
1g.115738372_115738373delCA2647280100CASQ2c.145-38_145-37del (n.145-38_145-37del)
c.421-38_421-37del (n.421-38_421-37del)
 gnomAD v4
1g.115738373_115738375delCA2647280101CASQ2c.145-39_145-37del (n.145-39_145-37del)
c.421-39_421-37del (n.421-39_421-37del)
 gnomAD v4
1g.115738374G>CCA2574037249CASQ2c.145-39C>G (n.145-39C>G)
c.421-39C>G (n.421-39C>G)
1g.115738375A=CA1190729314CASQ2c.145-40T= (n.145-40T=)
c.421-40T= (n.421-40T=)
1g.115738375A>GCA885950672CASQ2c.145-40T>C (n.145-40T>C)
c.421-40T>C (n.421-40T>C)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched