Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219060245A>CCA350636924IHHc.223T>G (p.Ser75Ala)
2g.219060245A>GCA350636926IHHc.223T>C (p.Ser75Pro)
2g.219060245A>TCA350636928IHHc.223T>A (p.Ser75Thr)
2g.219060246G>ACA431420008IHHc.222C>T (p.Ser74=)
2g.219060246G>CCA350636930IHHc.222C>G (p.Ser74Arg)
2g.219060246G>TCA350636931IHHc.222C>A (p.Ser74Arg)
2g.219060247C>ACA350636933IHHc.221G>T (p.Ser74Ile)
2g.219060247C>GCA350636935IHHc.221G>C (p.Ser74Thr)
2g.219060247C>TCA350636936IHHc.221G>A (p.Ser74Asn)
2g.219060248T>ACA350636938IHHc.220A>T (p.Ser74Cys)
2g.219060248T>CCA350636939IHHc.220A>G (p.Ser74Gly)
gnomAD v4
2g.219060248T>GCA350636941IHHc.220A>C (p.Ser74Arg)
2g.219060248_219060249delCA2754315634IHHc.219_220del (p.Ser74LeufsTer?)
2g.219060249G>ACA431420026IHHc.219C>T (p.Arg73=)
2g.219060249G>CCA431420029IHHc.219C>G (p.Arg73=)
2g.219060249G>TCA431420032IHHc.219C>A (p.Arg73=)
2g.219060250C>ACA350636943IHHc.218G>T (p.Arg73Leu)
2g.219060250C>GCA350636944IHHc.218G>C (p.Arg73Pro)
2g.219060250C>TCA350636945IHHc.218G>A (p.Arg73His)
COSMIC
2g.219060250_219060251delinsCGCA1329042609IHHc.217_218delinsCG (p.Arg73=)
2g.219060251delCA1329042610IHHc.217del (p.Arg73AlafsTer?)
dbSNP
2g.219060251G>ACA350636947IHHc.217C>T (p.Arg73Cys)
ClinVar dbSNP
2g.219060251G>CCA350636949IHHc.217C>G (p.Arg73Gly)
gnomAD v4
2g.219060251G>TCA350636950IHHc.217C>A (p.Arg73Ser)
2g.219060252A>CCA431420039IHHc.216T>G (p.Ala72=)
2g.219060252A>GCA431420041IHHc.216T>C (p.Ala72=)
2g.219060252A>TCA431420044IHHc.216T>A (p.Ala72=)
2g.219060253G>ACA65951277IHHc.215C>T (p.Ala72Val)
ClinVar dbSNP gnomAD v4
2g.219060253G>CCA350636954IHHc.215C>G (p.Ala72Gly)
2g.219060253G=CA1329042611IHHc.215C= (p.Ala72=)
2g.219060253G>TCA350636952IHHc.215C>A (p.Ala72Asp)
2g.219060254C>ACA350636957IHHc.214G>T (p.Ala72Ser)
2g.219060254C=CA1329042612IHHc.214G= (p.Ala72=)
2g.219060254C>GCA350636956IHHc.214G>C (p.Ala72Pro)
2g.219060254C>TCA350636959IHHc.214G>A (p.Ala72Thr)
dbSNP gnomAD v2 gnomAD v4
2g.219060255G>ACA2116752IHHc.213C>T (p.Ile71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060255G>CCA350636960IHHc.213C>G (p.Ile71Met)
2g.219060255G=CA1329042613IHHc.213C= (p.Ile71=)
2g.219060255G>TCA431420051IHHc.213C>A (p.Ile71=)
2g.219060256A=CA1329042614IHHc.212T= (p.Ile71=)
2g.219060256A>CCA350636962IHHc.212T>G (p.Ile71Ser)
2g.219060256A>GCA350636964IHHc.212T>C (p.Ile71Thr)
dbSNP
2g.219060256A>TCA350636965IHHc.212T>A (p.Ile71Asn)
2g.219060257T>ACA350636967IHHc.211A>T (p.Ile71Phe)
2g.219060257T>CCA350636969IHHc.211A>G (p.Ile71Val)
2g.219060257T>GCA350636971IHHc.211A>C (p.Ile71Leu)
2g.219060258C>ACA350636972IHHc.210G>T (p.Lys70Asn)
2g.219060258C=CA1329042615IHHc.210G= (p.Lys70=)
2g.219060258C>GCA350636974IHHc.210G>C (p.Lys70Asn)
2g.219060258C>TCA431420062IHHc.210G>A (p.Lys70=)
dbSNP
2g.219060259T>ACA350636979IHHc.209A>T (p.Lys70Met)
2g.219060259T>CCA350636978IHHc.209A>G (p.Lys70Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060259T>GCA350636976IHHc.209A>C (p.Lys70Thr)
2g.219060259T=CA1329042616IHHc.209A= (p.Lys70=)
2g.219060260T>ACA350636980IHHc.208A>T (p.Lys70Ter)
2g.219060260T>CCA350636982IHHc.208A>G (p.Lys70Glu)
2g.219060260T>GCA350636984IHHc.208A>C (p.Lys70Gln)
2g.219060261G>ACA431420069IHHc.207C>T (p.Gly69=)
2g.219060261G>CCA431420070IHHc.207C>G (p.Gly69=)
2g.219060261G=CA1329042617IHHc.207C= (p.Gly69=)
2g.219060261G>TCA2116753IHHc.207C>A (p.Gly69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060262C>ACA350636985IHHc.206G>T (p.Gly69Val)
2g.219060262C>GCA350636986IHHc.206G>C (p.Gly69Ala)
2g.219060262C>TCA350636988IHHc.206G>A (p.Gly69Asp)
2g.219060263C>ACA350636990IHHc.205G>T (p.Gly69Cys)
2g.219060263C=CA1329042618IHHc.205G= (p.Gly69=)
2g.219060263C>GCA350636992IHHc.205G>C (p.Gly69Arg)
2g.219060263C>TCA350636993IHHc.205G>A (p.Gly69Ser)
dbSNP gnomAD v3 gnomAD v4
2g.219060264T>ACA350636994IHHc.204A>T (p.Glu68Asp)
2g.219060264T>CCA431420078IHHc.204A>G (p.Glu68=)
2g.219060264T>GCA350636995IHHc.204A>C (p.Glu68Asp)
2g.219060265T>ACA350636999IHHc.203A>T (p.Glu68Val)
2g.219060265T>CCA2116754IHHc.203A>G (p.Glu68Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060265T>GCA350636998IHHc.203A>C (p.Glu68Ala)
2g.219060265T=CA1329042619IHHc.203A= (p.Glu68=)
2g.219060266C>ACA350637001IHHc.202G>T (p.Glu68Ter)
2g.219060266C>GCA350637003IHHc.202G>C (p.Glu68Gln)
2g.219060266C>TCA350637004IHHc.202G>A (p.Glu68Lys)
2g.219060267A>CCA350637005IHHc.201T>G (p.Tyr67Ter)
2g.219060267A>GCA431420087IHHc.201T>C (p.Tyr67=)
gnomAD v4
2g.219060267A>TCA350637006IHHc.201T>A (p.Tyr67Ter)
2g.219060268T>ACA350637011IHHc.200A>T (p.Tyr67Phe)
2g.219060268T>CCA2116755IHHc.200A>G (p.Tyr67Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060268T>GCA350637008IHHc.200A>C (p.Tyr67Ser)
2g.219060268T=CA1329042620IHHc.200A= (p.Tyr67=)
2g.219060269A>CCA350637014IHHc.199T>G (p.Tyr67Asp)
2g.219060269A>GCA350637016IHHc.199T>C (p.Tyr67His)
2g.219060269A>TCA350637018IHHc.199T>A (p.Tyr67Asn)
2g.219060270G>ACA431420093IHHc.198C>T (p.Arg66=)
2g.219060270G>CCA431420096IHHc.198C>G (p.Arg66=)
dbSNP gnomAD v4
2g.219060270G=CA1329042621IHHc.198C= (p.Arg66=)
2g.219060270G>TCA431420098IHHc.198C>A (p.Arg66=)
2g.219060271C>ACA350637020IHHc.197G>T (p.Arg66Leu)
gnomAD v4
2g.219060271C=CA1329042622IHHc.197G= (p.Arg66=)
2g.219060271C>GCA350637025IHHc.197G>C (p.Arg66Pro)
2g.219060271C>TCA2116756IHHc.197G>A (p.Arg66His)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060272G>ACA2116757IHHc.196C>T (p.Arg66Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060272G>CCA350637031IHHc.196C>G (p.Arg66Gly)
2g.219060272G=CA1329042623IHHc.196C= (p.Arg66=)
2g.219060272G>TCA350637029IHHc.196C>A (p.Arg66Ser)
2g.219060273T>ACA431420105IHHc.195A>T (p.Gly65=)
2g.219060273T>CCA431420106IHHc.195A>G (p.Gly65=)
gnomAD v4
2g.219060273T>GCA431420107IHHc.195A>C (p.Gly65=)
2g.219060274C>ACA350637034IHHc.194G>T (p.Gly65Val)
2g.219060274C>GCA350637036IHHc.194G>C (p.Gly65Ala)
2g.219060274C>TCA350637039IHHc.194G>A (p.Gly65Glu)
COSMIC
2g.219060275C>ACA350637042IHHc.193G>T (p.Gly65Ter)
2g.219060275C>GCA350637043IHHc.193G>C (p.Gly65Arg)
2g.219060275C>TCA350637046IHHc.193G>A (p.Gly65Arg)
2g.219060276G>ACA2116758IHHc.192C>T (p.Ser64=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060276G>CCA350637050IHHc.192C>G (p.Ser64Arg)
gnomAD v4
2g.219060276G=CA1329042624IHHc.192C= (p.Ser64=)
2g.219060276G>TCA350637051IHHc.192C>A (p.Ser64Arg)
2g.219060277C>ACA350637052IHHc.191G>T (p.Ser64Ile)
2g.219060277C>GCA350637053IHHc.191G>C (p.Ser64Thr)
2g.219060277C>TCA350637057IHHc.191G>A (p.Ser64Asn)
2g.219060278T>ACA350637060IHHc.190A>T (p.Ser64Cys)
2g.219060278T>CCA350637063IHHc.190A>G (p.Ser64Gly)
2g.219060278T>GCA350637059IHHc.190A>C (p.Ser64Arg)
2g.219060279G>ACA431420121IHHc.189C>T (p.Ala63=)
2g.219060279G>CCA431420122IHHc.189C>G (p.Ala63=)
2g.219060279G>TCA431420124IHHc.189C>A (p.Ala63=)
2g.219060280G>ACA350637071IHHc.188C>T (p.Ala63Val)
2g.219060280G>CCA350637066IHHc.188C>G (p.Ala63Gly)
2g.219060280G>TCA350637068IHHc.188C>A (p.Ala63Asp)
2g.219060281C>ACA350637073IHHc.187G>T (p.Ala63Ser)
2g.219060281C=CA1329042625IHHc.187G= (p.Ala63=)
2g.219060281C>GCA350637075IHHc.187G>C (p.Ala63Pro)
2g.219060281C>TCA350637077IHHc.187G>A (p.Ala63Thr)
dbSNP gnomAD v2 gnomAD v4
2g.219060282G>ACA431420127IHHc.186C>T (p.Gly62=)
2g.219060282G>CCA431420128IHHc.186C>G (p.Gly62=)
2g.219060282G>TCA431420129IHHc.186C>A (p.Gly62=)
gnomAD v4
2g.219060283C>ACA350637080IHHc.185G>T (p.Gly62Val)
2g.219060283C>GCA350637083IHHc.185G>C (p.Gly62Ala)
2g.219060283C>TCA350637084IHHc.185G>A (p.Gly62Asp)
2g.219060284C>ACA350637087IHHc.184G>T (p.Gly62Cys)
gnomAD v4
2g.219060284C>GCA350637088IHHc.184G>C (p.Gly62Arg)
2g.219060284C>TCA350637091IHHc.184G>A (p.Gly62Ser)
gnomAD v4
2g.219060285C>ACA431420140IHHc.183G>T (p.Leu61=)
2g.219060285C>GCA431420141IHHc.183G>C (p.Leu61=)
2g.219060285C>TCA431420142IHHc.183G>A (p.Leu61=)
2g.219060286A>CCA350637099IHHc.182T>G (p.Leu61Arg)
2g.219060286A>GCA350637097IHHc.182T>C (p.Leu61Pro)
2g.219060286A>TCA350637094IHHc.182T>A (p.Leu61Gln)
2g.219060287G>ACA431420147IHHc.181C>T (p.Leu61=)
2g.219060287G>CCA2116759IHHc.181C>G (p.Leu61Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060287G=CA1329042626IHHc.181C= (p.Leu61=)
2g.219060287G>TCA350637102IHHc.181C>A (p.Leu61Met)
2g.219060288G>ACA431420151IHHc.180C>T (p.Thr60=)
2g.219060288G>CCA431420153IHHc.180C>G (p.Thr60=)
2g.219060288G>TCA431420154IHHc.180C>A (p.Thr60=)
2g.219060289G>ACA350637105IHHc.179C>T (p.Thr60Ile)
2g.219060289G>CCA2116760IHHc.179C>G (p.Thr60Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060289G=CA1329042627IHHc.179C= (p.Thr60=)
2g.219060289G>TCA350637107IHHc.179C>A (p.Thr60Asn)
2g.219060290T>ACA350637109IHHc.178A>T (p.Thr60Ser)
2g.219060290T>CCA350637111IHHc.178A>G (p.Thr60Ala)
dbSNP gnomAD v3 gnomAD v4
2g.219060290T>GCA350637112IHHc.178A>C (p.Thr60Pro)
2g.219060290T=CA1329042628IHHc.178A= (p.Thr60=)
2g.219060291C>ACA350637114IHHc.177G>T (p.Lys59Asn)
2g.219060291C=CA1329042629IHHc.177G= (p.Lys59=)
2g.219060291C>GCA350637117IHHc.177G>C (p.Lys59Asn)
2g.219060291C>TCA431420168IHHc.177G>A (p.Lys59=)
dbSNP gnomAD v4
2g.219060292T>ACA350637120IHHc.176A>T (p.Lys59Met)
2g.219060292T>CCA350637122IHHc.176A>G (p.Lys59Arg)
2g.219060292T>GCA350637123IHHc.176A>C (p.Lys59Thr)
gnomAD v4
2g.219060293T>ACA350637129IHHc.175A>T (p.Lys59Ter)
2g.219060293T>CCA350637131IHHc.175A>G (p.Lys59Glu)
2g.219060293T>GCA350637127IHHc.175A>C (p.Lys59Gln)
2g.219060294C>ACA350637133IHHc.174G>T (p.Glu58Asp)
2g.219060294C>GCA350637135IHHc.174G>C (p.Glu58Asp)
2g.219060294C>TCA431420179IHHc.174G>A (p.Glu58=)
gnomAD v4
2g.219060295T>ACA350637137IHHc.173A>T (p.Glu58Val)
2g.219060295T>CCA350637139IHHc.173A>G (p.Glu58Gly)
2g.219060295T>GCA350637140IHHc.173A>C (p.Glu58Ala)
2g.219060296C>ACA350637141IHHc.172G>T (p.Glu58Ter)
ClinVar dbSNP
2g.219060296C>GCA350637142IHHc.172G>C (p.Glu58Gln)
2g.219060296C>TCA350637143IHHc.172G>A (p.Glu58Lys)
ClinVar
2g.219060296_219060297delCA2701545560IHHc.171_172del (p.Lys59AspfsTer9)
dbSNP
2g.219060297G>ACA431420198IHHc.171C>T (p.Pro57=)
2g.219060297G>CCA431420196IHHc.171C>G (p.Pro57=)
gnomAD v4
2g.219060297G>TCA431420197IHHc.171C>A (p.Pro57=)
gnomAD v4
2g.219060298G>ACA350637144IHHc.170C>T (p.Pro57Leu)
2g.219060298G>CCA350637146IHHc.170C>G (p.Pro57Arg)
2g.219060298G=CA1329042630IHHc.170C= (p.Pro57=)
2g.219060298G>TCA350637148IHHc.170C>A (p.Pro57His)
dbSNP gnomAD v4
2g.219060299G>ACA350637149IHHc.169C>T (p.Pro57Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060299G>CCA350637150IHHc.169C>G (p.Pro57Ala)
2g.219060299G=CA1329042631IHHc.169C= (p.Pro57=)
2g.219060299G>TCA350637151IHHc.169C>A (p.Pro57Thr)
gnomAD v4
2g.219060300C>ACA431420215IHHc.168G>T (p.Val56=)
2g.219060300C>GCA431420214IHHc.168G>C (p.Val56=)
gnomAD v4
2g.219060300C>TCA431420208IHHc.168G>A (p.Val56=)
2g.219060301A>CCA350637161IHHc.167T>G (p.Val56Gly)
2g.219060301A>GCA350637157IHHc.167T>C (p.Val56Ala)
COSMIC
2g.219060301A>TCA350637154IHHc.167T>A (p.Val56Glu)
2g.219060302C>ACA350637162IHHc.166G>T (p.Val56Leu)
2g.219060302C>GCA350637164IHHc.166G>C (p.Val56Leu)
2g.219060302C>TCA350637167IHHc.166G>A (p.Val56Met)
2g.219060303A=CA1329042632IHHc.165T= (p.Asn55=)
2g.219060303A>CCA350637170IHHc.165T>G (p.Asn55Lys)
2g.219060303A>GCA431420226IHHc.165T>C (p.Asn55=)
dbSNP COSMIC
2g.219060303A>TCA350637173IHHc.165T>A (p.Asn55Lys)
2g.219060304T>ACA350637176IHHc.164A>T (p.Asn55Ile)
2g.219060304T>CCA2116761IHHc.164A>G (p.Asn55Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060304T>GCA350637180IHHc.164A>C (p.Asn55Thr)
2g.219060304T=CA1329042633IHHc.164A= (p.Asn55=)
2g.219060305T>ACA350637182IHHc.163A>T (p.Asn55Tyr)
2g.219060305T>CCA350637185IHHc.163A>G (p.Asn55Asp)
dbSNP gnomAD v3 gnomAD v4
2g.219060305T>GCA350637187IHHc.163A>C (p.Asn55His)
2g.219060305T=CA1329042634IHHc.163A= (p.Asn55=)
2g.219060306G>ACA431420235IHHc.162C>T (p.Pro54=)
2g.219060306G>CCA431420236IHHc.162C>G (p.Pro54=)
2g.219060306G>TCA431420238IHHc.162C>A (p.Pro54=)
2g.219060307G>ACA350637189IHHc.161C>T (p.Pro54Leu)
2g.219060307G>CCA350637190IHHc.161C>G (p.Pro54Arg)
2g.219060307G>TCA350637192IHHc.161C>A (p.Pro54His)
2g.219060308G>ACA350637205IHHc.160C>T (p.Pro54Ser)
ClinVar dbSNP
2g.219060308G>CCA350637212IHHc.160C>G (p.Pro54Ala)
2g.219060308G>TCA350637196IHHc.160C>A (p.Pro54Thr)
2g.219060309G>ACA431420250IHHc.159C>T (p.Ser53=)
2g.219060309G>CCA350637217IHHc.159C>G (p.Ser53Arg)
2g.219060309G>TCA350637215IHHc.159C>A (p.Ser53Arg)
gnomAD v4
2g.219060310C>ACA350637223IHHc.158G>T (p.Ser53Ile)
2g.219060310C>GCA350637220IHHc.158G>C (p.Ser53Thr)
2g.219060310C>TCA350637225IHHc.158G>A (p.Ser53Asn)
2g.219060311T>ACA350637228IHHc.157A>T (p.Ser53Cys)
2g.219060311T>CCA350637229IHHc.157A>G (p.Ser53Gly)
dbSNP gnomAD v2 gnomAD v4
2g.219060311T>GCA350637232IHHc.157A>C (p.Ser53Arg)
2g.219060311T=CA1329042635IHHc.157A= (p.Ser53=)
2g.219060312G>ACA431420259IHHc.156C>T (p.Phe52=)
2g.219060312G>CCA350637236IHHc.156C>G (p.Phe52Leu)
2g.219060312G>TCA350637238IHHc.156C>A (p.Phe52Leu)
2g.219060313A>CCA350637242IHHc.155T>G (p.Phe52Cys)
2g.219060313A>GCA350637244IHHc.155T>C (p.Phe52Ser)
2g.219060313A>TCA350637245IHHc.155T>A (p.Phe52Tyr)
2g.219060314A=CA1329042636IHHc.154T= (p.Phe52=)
2g.219060314A>CCA350637247IHHc.154T>G (p.Phe52Val)
2g.219060314A>GCA65951302IHHc.154T>C (p.Phe52Leu)
dbSNP
2g.219060314A>TCA350637252IHHc.154T>A (p.Phe52Ile)
2g.219060315C>ACA350637255IHHc.153G>T (p.Gln51His)
2g.219060315C>GCA350637256IHHc.153G>C (p.Gln51His)
2g.219060315C>TCA431420277IHHc.153G>A (p.Gln51=)
2g.219060316T>ACA350637264IHHc.152A>T (p.Gln51Leu)
2g.219060316T>CCA350637262IHHc.152A>G (p.Gln51Arg)
2g.219060316T>GCA350637260IHHc.152A>C (p.Gln51Pro)
2g.219060317G>ACA350637266IHHc.151C>T (p.Gln51Ter)
2g.219060317G>CCA350637269IHHc.151C>G (p.Gln51Glu)
2g.219060317G=CA1329042637IHHc.151C= (p.Gln51=)
2g.219060317G>TCA350637272IHHc.151C>A (p.Gln51Lys)
ClinVar dbSNP gnomAD v4
2g.219060318C>ACA350637274IHHc.150G>T (p.Lys50Asn)
2g.219060318C>GCA350637277IHHc.150G>C (p.Lys50Asn)
2g.219060318C>TCA431420279IHHc.150G>A (p.Lys50=)
2g.219060319T>ACA350637280IHHc.149A>T (p.Lys50Met)
2g.219060319T>CCA350637281IHHc.149A>G (p.Lys50Arg)
2g.219060319T>GCA350637283IHHc.149A>C (p.Lys50Thr)
2g.219060320T>ACA350637285IHHc.148A>T (p.Lys50Ter)
2g.219060320T>CCA350637287IHHc.148A>G (p.Lys50Glu)
2g.219060320T>GCA350637290IHHc.148A>C (p.Lys50Gln)
2g.219060321G>ACA431420287IHHc.147C>T (p.Tyr49=)
2g.219060321G>CCA350637294IHHc.147C>G (p.Tyr49Ter)
2g.219060321G>TCA350637296IHHc.147C>A (p.Tyr49Ter)
2g.219060322T>ACA350637301IHHc.146A>T (p.Tyr49Phe)
2g.219060322T>CCA350637303IHHc.146A>G (p.Tyr49Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219060322T>GCA350637299IHHc.146A>C (p.Tyr49Ser)
2g.219060322T=CA1329042638IHHc.146A= (p.Tyr49=)
2g.219060323A>CCA350637306IHHc.145T>G (p.Tyr49Asp)
2g.219060323A>GCA350637309IHHc.145T>C (p.Tyr49His)
2g.219060323A>TCA350637311IHHc.145T>A (p.Tyr49Asn)
2g.219060324G>ACA431420297IHHc.144C>T (p.Ala48=)
dbSNP gnomAD v3 gnomAD v4
2g.219060324G>CCA431420296IHHc.144C>G (p.Ala48=)
2g.219060324G=CA1329042639IHHc.144C= (p.Ala48=)
2g.219060324G>TCA431420295IHHc.144C>A (p.Ala48=)
gnomAD v4
2g.219060325G>ACA2116762IHHc.143C>T (p.Ala48Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060325G>CCA350637315IHHc.143C>G (p.Ala48Gly)
2g.219060325G=CA1329042640IHHc.143C= (p.Ala48=)
2g.219060325G>TCA350637316IHHc.143C>A (p.Ala48Asp)
2g.219060326C>ACA350637317IHHc.142G>T (p.Ala48Ser)
gnomAD v4
2g.219060326C=CA1329042641IHHc.142G= (p.Ala48=)
2g.219060326C>GCA350637318IHHc.142G>C (p.Ala48Pro)
2g.219060326C>TCA2116763IHHc.142G>A (p.Ala48Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060327G>ACA2116764IHHc.141C>T (p.Leu47=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060327G>CCA431420307IHHc.141C>G (p.Leu47=)
gnomAD v4
2g.219060327G=CA1329042642IHHc.141C= (p.Leu47=)
2g.219060327G>TCA431420310IHHc.141C>A (p.Leu47=)
2g.219060328A>CCA350637321IHHc.140T>G (p.Leu47Arg)
2g.219060328A>GCA350637322IHHc.140T>C (p.Leu47Pro)
gnomAD v4
2g.219060328A>TCA350637325IHHc.140T>A (p.Leu47His)
2g.219060329G>ACA2116765IHHc.139C>T (p.Leu47Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060329G>CCA350637329IHHc.139C>G (p.Leu47Val)
2g.219060329G=CA1329042643IHHc.139C= (p.Leu47=)
2g.219060329G>TCA350637327IHHc.139C>A (p.Leu47Ile)
2g.219060330C>ACA2116766IHHc.138G>T (p.Pro46=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060330C=CA1329042644IHHc.138G= (p.Pro46=)
2g.219060330C>GCA431420318IHHc.138G>C (p.Pro46=)
dbSNP gnomAD v2
2g.219060330C>TCA431420317IHHc.138G>A (p.Pro46=)
gnomAD v4
2g.219060331G>ACA119977IHHc.137C>T (p.Pro46Leu)
ClinVar dbSNP gnomAD v4
2g.219060331G>CCA350637334IHHc.137C>G (p.Pro46Arg)
2g.219060331G=CA1329042645IHHc.137C= (p.Pro46=)
2g.219060331G>TCA350637336IHHc.137C>A (p.Pro46Gln)
gnomAD v4
2g.219060332G>ACA350637339IHHc.136C>T (p.Pro46Ser)
gnomAD v4
2g.219060332G>CCA350637342IHHc.136C>G (p.Pro46Ala)
2g.219060332G>TCA350637345IHHc.136C>A (p.Pro46Thr)
gnomAD v4
2g.219060333C>ACA431420325IHHc.135G>T (p.Val45=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060333C=CA1329042646IHHc.135G= (p.Val45=)
2g.219060333C>GCA431420327IHHc.135G>C (p.Val45=)
gnomAD v4
2g.219060333C>TCA431420329IHHc.135G>A (p.Val45=)
2g.219060334A=CA1329042647IHHc.134T= (p.Val45=)
2g.219060334A>CCA2116767IHHc.134T>G (p.Val45Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060334A>GCA350637348IHHc.134T>C (p.Val45Ala)
2g.219060334A>TCA350637351IHHc.134T>A (p.Val45Glu)
2g.219060335C>ACA350637355IHHc.133G>T (p.Val45Leu)
gnomAD v4
2g.219060335C=CA1329042648IHHc.133G= (p.Val45=)
2g.219060335C>GCA350637357IHHc.133G>C (p.Val45Leu)
gnomAD v4
2g.219060335C>TCA350637353IHHc.133G>A (p.Val45Met)
dbSNP gnomAD v2 COSMIC
2g.219060336G>ACA431420333IHHc.132C>T (p.Leu44=)
gnomAD v4
2g.219060336G>CCA65951324IHHc.132C>G (p.Leu44=)
dbSNP gnomAD v4
2g.219060336G=CA1329042649IHHc.132C= (p.Leu44=)
2g.219060336G>TCA431420334IHHc.132C>A (p.Leu44=)
gnomAD v4
2g.219060337A>CCA350637360IHHc.131T>G (p.Leu44Arg)
2g.219060337A>GCA350637361IHHc.131T>C (p.Leu44Pro)
2g.219060337A>TCA350637364IHHc.131T>A (p.Leu44His)
2g.219060338G>ACA350637366IHHc.130C>T (p.Leu44Phe)
2g.219060338G>CCA350637369IHHc.130C>G (p.Leu44Val)
2g.219060338G>TCA350637372IHHc.130C>A (p.Leu44Ile)
gnomAD v4
2g.219060339T>ACA350637376IHHc.129A>T (p.Lys43Asn)
2g.219060339T>CCA431420341IHHc.129A>G (p.Lys43=)
2g.219060339T>GCA350637374IHHc.129A>C (p.Lys43Asn)
2g.219060340T>ACA350637379IHHc.128A>T (p.Lys43Ile)
2g.219060340T>CCA2116768IHHc.128A>G (p.Lys43Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060340T>GCA350637382IHHc.128A>C (p.Lys43Thr)
2g.219060340T=CA1329042650IHHc.128A= (p.Lys43=)
2g.219060341T>ACA350637383IHHc.127A>T (p.Lys43Ter)
2g.219060341T>CCA350637386IHHc.127A>G (p.Lys43Glu)
dbSNP
2g.219060341T>GCA350637388IHHc.127A>C (p.Lys43Gln)
2g.219060341T=CA1329042651IHHc.127A= (p.Lys43=)
2g.219060342G>ACA431420345IHHc.126C>T (p.Arg42=)
2g.219060342G>CCA431420346IHHc.126C>G (p.Arg42=)
2g.219060342G=CA1329042652IHHc.126C= (p.Arg42=)
2g.219060342G>TCA2116769IHHc.126C>A (p.Arg42=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060343C>ACA350637392IHHc.125G>T (p.Arg42Leu)
gnomAD v4
2g.219060343C=CA1329042653IHHc.125G= (p.Arg42=)
2g.219060343C>GCA350637397IHHc.125G>C (p.Arg42Pro)
2g.219060343C>TCA350637395IHHc.125G>A (p.Arg42His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219060344G>ACA350637400IHHc.124C>T (p.Arg42Cys)
COSMIC
2g.219060344G>CCA350637403IHHc.124C>G (p.Arg42Gly)
dbSNP
2g.219060344G=CA1329042654IHHc.124C= (p.Arg42=)
2g.219060344G>TCA2116770IHHc.124C>A (p.Arg42Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060345T>ACA431420353IHHc.123A>T (p.Pro41=)
2g.219060345T>CCA431420350IHHc.123A>G (p.Pro41=)
COSMIC
2g.219060345T>GCA431420351IHHc.123A>C (p.Pro41=)
dbSNP

Number of alleles fetched