Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.18269227A=CA1955523676SAA1c.124A= (p.Met42=)
11g.18269227A>CCA379504488SAA1c.124A>C (p.Met42Leu)
11g.18269227A>GCA379504490SAA1c.124A>G (p.Met42Val)
dbSNP gnomAD v4
11g.18269227A>TCA379504491SAA1c.124A>T (p.Met42Leu)
11g.18269227dupCA2612726960SAA1c.124dup (p.Met42AsnfsTer20)
gnomAD v4
11g.18269228T>ACA379504492SAA1c.125T>A (p.Met42Lys)
gnomAD v4
11g.18269228T>CCA5909451SAA1c.125T>C (p.Met42Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269228T>GCA379504493SAA1c.125T>G (p.Met42Arg)
11g.18269228T=CA1955523677SAA1c.125T= (p.Met42=)
11g.18269229G>ACA5909452SAA1c.126G>A (p.Met42Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269229G>CCA379504495SAA1c.126G>C (p.Met42Ile)
11g.18269229G=CA1955523678SAA1c.126G= (p.Met42=)
11g.18269229G>TCA379504494SAA1c.126G>T (p.Met42Ile)
11g.18269230A>CCA473366743SAA1c.127A>C (p.Arg43=)
11g.18269230A>GCA379504496SAA1c.127A>G (p.Arg43Gly)
11g.18269230A>TCA379504498SAA1c.127A>T (p.Arg43Ter)
11g.18269231G>ACA5909453SAA1c.128G>A (p.Arg43Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269231G>CCA379504499SAA1c.128G>C (p.Arg43Thr)
gnomAD v4
11g.18269231G=CA1955523679SAA1c.128G= (p.Arg43=)
11g.18269231G>TCA379504500SAA1c.128G>T (p.Arg43Ile)
11g.18269232A>CCA379504501SAA1c.129A>C (p.Arg43Ser)
11g.18269232A>GCA473366750SAA1c.129A>G (p.Arg43=)
11g.18269232A>TCA379504502SAA1c.129A>T (p.Arg43Ser)
11g.18269233G>ACA379504504SAA1c.130G>A (p.Glu44Lys)
11g.18269233G>CCA379504505SAA1c.130G>C (p.Glu44Gln)
dbSNP
11g.18269233G=CA1955523680SAA1c.130G= (p.Glu44=)
11g.18269233G>TCA379504507SAA1c.130G>T (p.Glu44Ter)
11g.18269234A>CCA379504508SAA1c.131A>C (p.Glu44Ala)
11g.18269234A>GCA379504510SAA1c.131A>G (p.Glu44Gly)
11g.18269234A>TCA379504512SAA1c.131A>T (p.Glu44Val)
11g.18269235A>CCA379504515SAA1c.132A>C (p.Glu44Asp)
11g.18269235A>GCA473366757SAA1c.132A>G (p.Glu44=)
11g.18269235A>TCA379504513SAA1c.132A>T (p.Glu44Asp)
11g.18269236G>ACA379504516SAA1c.133G>A (p.Ala45Thr)
11g.18269236G>CCA379504518SAA1c.133G>C (p.Ala45Pro)
11g.18269236G>TCA379504520SAA1c.133G>T (p.Ala45Ser)
11g.18269237C>ACA379504524SAA1c.134C>A (p.Ala45Asp)
11g.18269237C=CA1955523681SAA1c.134C= (p.Ala45=)
11g.18269237C>GCA379504526SAA1c.134C>G (p.Ala45Gly)
dbSNP gnomAD v3 gnomAD v4
11g.18269237C>TCA379504530SAA1c.134C>T (p.Ala45Val)
11g.18269238C>ACA473366765SAA1c.135C>A (p.Ala45=)
11g.18269238C>GCA473366767SAA1c.135C>G (p.Ala45=)
11g.18269238C>TCA473366769SAA1c.135C>T (p.Ala45=)
11g.18269239A=CA1955523682SAA1c.136A= (p.Asn46=)
11g.18269239A>CCA379504535SAA1c.136A>C (p.Asn46His)
11g.18269239A>GCA379504532SAA1c.136A>G (p.Asn46Asp)
gnomAD v4
11g.18269239A>TCA379504534SAA1c.136A>T (p.Asn46Tyr)
dbSNP gnomAD v3 gnomAD v4
11g.18269240A>CCA379504537SAA1c.137A>C (p.Asn46Thr)
11g.18269240A>GCA379504539SAA1c.137A>G (p.Asn46Ser)
11g.18269240A>TCA379504541SAA1c.137A>T (p.Asn46Ile)
11g.18269241T>ACA379504542SAA1c.138T>A (p.Asn46Lys)
11g.18269241T>CCA473366776SAA1c.138T>C (p.Asn46=)
gnomAD v4
11g.18269241T>GCA379504544SAA1c.138T>G (p.Asn46Lys)
11g.18269242T>ACA379504547SAA1c.139T>A (p.Tyr47Asn)
11g.18269242T>CCA379504545SAA1c.139T>C (p.Tyr47His)
gnomAD v4
11g.18269242T>GCA379504546SAA1c.139T>G (p.Tyr47Asp)
11g.18269243A=CA1955523683SAA1c.140A= (p.Tyr47=)
11g.18269243A>CCA379504548SAA1c.140A>C (p.Tyr47Ser)
11g.18269243A>GCA379504550SAA1c.140A>G (p.Tyr47Cys)
dbSNP gnomAD v4
11g.18269243A>TCA379504551SAA1c.140A>T (p.Tyr47Phe)
11g.18269244C>ACA379504553SAA1c.141C>A (p.Tyr47Ter)
11g.18269244C>GCA379504555SAA1c.141C>G (p.Tyr47Ter)
11g.18269244C>TCA473366786SAA1c.141C>T (p.Tyr47=)
11g.18269245A=CA1955523684SAA1c.142A= (p.Ile48=)
11g.18269245A>CCA379504557SAA1c.142A>C (p.Ile48Leu)
11g.18269245A>GCA5909454SAA1c.142A>G (p.Ile48Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269245A>TCA5909455SAA1c.142A>T (p.Ile48Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269246T>ACA379504559SAA1c.143T>A (p.Ile48Asn)
11g.18269246T>CCA379504560SAA1c.143T>C (p.Ile48Thr)
11g.18269246T>GCA379504561SAA1c.143T>G (p.Ile48Ser)
11g.18269247C>ACA473366799SAA1c.144C>A (p.Ile48=)
gnomAD v4
11g.18269247C=CA1955523685SAA1c.144C= (p.Ile48=)
11g.18269247C>GCA379504562SAA1c.144C>G (p.Ile48Met)
dbSNP
11g.18269247C>TCA5909456SAA1c.144C>T (p.Ile48=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269248G>ACA5909457SAA1c.145G>A (p.Gly49Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.18269248G>CCA379504564SAA1c.145G>C (p.Gly49Arg)
11g.18269248G=CA1955523686SAA1c.145G= (p.Gly49=)
11g.18269248G>TCA379504565SAA1c.145G>T (p.Gly49Cys)
11g.18269249G>ACA379504567SAA1c.146G>A (p.Gly49Asp)
dbSNP gnomAD v4
11g.18269249G>CCA379504570SAA1c.146G>C (p.Gly49Ala)
11g.18269249G=CA1955523687SAA1c.146G= (p.Gly49=)
11g.18269249G>TCA379504569SAA1c.146G>T (p.Gly49Val)
11g.18269250C>ACA473366812SAA1c.147C>A (p.Gly49=)
11g.18269250C=CA1955523688SAA1c.147C= (p.Gly49=)
11g.18269250C>GCA473366814SAA1c.147C>G (p.Gly49=)
11g.18269250C>TCA5909458SAA1c.147C>T (p.Gly49=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269251T>ACA379504572SAA1c.148T>A (p.Ser50Thr)
11g.18269251T>CCA218565938SAA1c.148T>C (p.Ser50Pro)
dbSNP
11g.18269251T>GCA379504574SAA1c.148T>G (p.Ser50Ala)
11g.18269251T=CA1955523690SAA1c.148T= (p.Ser50=)
11g.18269251_18269255delinsTCAGACA1955523689SAA1c.148_152delinsTCAGA (p.Ser50=)
11g.18269252C>ACA379504576SAA1c.149C>A (p.Ser50Ter)
11g.18269252C>GCA379504578SAA1c.149C>G (p.Ser50Ter)
11g.18269252C>TCA379504580SAA1c.149C>T (p.Ser50Leu)
gnomAD v4
11g.18269254_18269257delCA5909459SAA1c.151_154del (p.Asp51AsnfsTer24)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269253delCA2612726995SAA1c.150del (p.Asp51ThrfsTer25)
gnomAD v4
11g.18269253A=CA1955523691SAA1c.150A= (p.Ser50=)
11g.18269253A>CCA473366821SAA1c.150A>C (p.Ser50=)
11g.18269253A>GCA473366822SAA1c.150A>G (p.Ser50=)
11g.18269253A>TCA5909460SAA1c.150A>T (p.Ser50=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269254G>ACA379504581SAA1c.151G>A (p.Asp51Asn)
dbSNP gnomAD v3 gnomAD v4
11g.18269254G>CCA379504582SAA1c.151G>C (p.Asp51His)
11g.18269254G=CA1955523692SAA1c.151G= (p.Asp51=)
11g.18269254G>TCA379504583SAA1c.151G>T (p.Asp51Tyr)
11g.18269254_18269255insTCA935588602SAA1c.151_152insT (p.Asp51ValfsTer11)
gnomAD v3 gnomAD v4
11g.18269255A=CA1955523693SAA1c.152A= (p.Asp51=)
11g.18269255A>CCA379504586SAA1c.152A>C (p.Asp51Ala)
11g.18269255A>GCA379504584SAA1c.152A>G (p.Asp51Gly)
dbSNP gnomAD v3 gnomAD v4
11g.18269255A>TCA379504585SAA1c.152A>T (p.Asp51Val)
11g.18269256C>ACA5909462SAA1c.153C>A (p.Asp51Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269256C=CA1955523694SAA1c.153C= (p.Asp51=)
11g.18269256C>GCA379504587SAA1c.153C>G (p.Asp51Glu)
11g.18269256C>TCA473366827SAA1c.153C>T (p.Asp51=)
gnomAD v4
11g.18269257_18269258insTGTACAAGTACATCACA935588605SAA1c.154_155insTGTACAAGTACATCA (p.Asp51_Lys52insMetTyrLysTyrIle)
gnomAD v3 gnomAD v4
11g.18269257A>CCA379504589SAA1c.154A>C (p.Lys52Gln)
11g.18269257A>GCA379504591SAA1c.154A>G (p.Lys52Glu)
gnomAD v4
11g.18269257A>TCA379504592SAA1c.154A>T (p.Lys52Ter)
11g.18269257_18269259dupCA5909461SAA1c.154_156dup (p.Lys52_Tyr53insLys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269258A>CCA379504593SAA1c.155A>C (p.Lys52Thr)
11g.18269258A>GCA379504595SAA1c.155A>G (p.Lys52Arg)
11g.18269258A>TCA379504596SAA1c.155A>T (p.Lys52Ile)
11g.18269259A>CCA379504598SAA1c.156A>C (p.Lys52Asn)
11g.18269259A>GCA473366837SAA1c.156A>G (p.Lys52=)
11g.18269259A>TCA379504600SAA1c.156A>T (p.Lys52Asn)
11g.18269260T>ACA379504603SAA1c.157T>A (p.Tyr53Asn)
11g.18269260T>CCA379504602SAA1c.157T>C (p.Tyr53His)
11g.18269260T>GCA379504601SAA1c.157T>G (p.Tyr53Asp)
11g.18269261A>CCA379504608SAA1c.158A>C (p.Tyr53Ser)
gnomAD v4
11g.18269261A>GCA379504605SAA1c.158A>G (p.Tyr53Cys)
11g.18269261A>TCA379504607SAA1c.158A>T (p.Tyr53Phe)
11g.18269262C>ACA379504610SAA1c.159C>A (p.Tyr53Ter)
11g.18269262C>GCA379504611SAA1c.159C>G (p.Tyr53Ter)
11g.18269262C>TCA473366852SAA1c.159C>T (p.Tyr53=)
11g.18269263T>ACA379504613SAA1c.160T>A (p.Phe54Ile)
11g.18269263T>CCA379504615SAA1c.160T>C (p.Phe54Leu)
11g.18269263T>GCA379504618SAA1c.160T>G (p.Phe54Val)
11g.18269264T>ACA379504619SAA1c.161T>A (p.Phe54Tyr)
11g.18269264T>CCA379504621SAA1c.161T>C (p.Phe54Ser)
11g.18269264T>GCA379504623SAA1c.161T>G (p.Phe54Cys)
11g.18269265C>ACA379504626SAA1c.162C>A (p.Phe54Leu)
11g.18269265C>GCA379504628SAA1c.162C>G (p.Phe54Leu)
11g.18269265C>TCA473366862SAA1c.162C>T (p.Phe54=)
11g.18269266delCA645597297SAA1c.163del (p.His55MetfsTer21)
COSMIC
11g.18269266C>ACA379504636SAA1c.163C>A (p.His55Asn)
11g.18269266C=CA1955523695SAA1c.163C= (p.His55=)
11g.18269266C>GCA379504634SAA1c.163C>G (p.His55Asp)
11g.18269266C>TCA379504632SAA1c.163C>T (p.His55Tyr)
dbSNP gnomAD v4
11g.18269267A>CCA379504639SAA1c.164A>C (p.His55Pro)
11g.18269267A>GCA379504642SAA1c.164A>G (p.His55Arg)
11g.18269267A>TCA379504644SAA1c.164A>T (p.His55Leu)
11g.18269268T>ACA379504648SAA1c.165T>A (p.His55Gln)
11g.18269268T>CCA473366874SAA1c.165T>C (p.His55=)
dbSNP gnomAD v4
11g.18269268T>GCA379504651SAA1c.165T>G (p.His55Gln)
11g.18269268T=CA1955523696SAA1c.165T= (p.His55=)
11g.18269269G>ACA379504655SAA1c.166G>A (p.Ala56Thr)
dbSNP gnomAD v4
11g.18269269G>CCA379504657SAA1c.166G>C (p.Ala56Pro)
11g.18269269G=CA1955523697SAA1c.166G= (p.Ala56=)
11g.18269269G>TCA379504660SAA1c.166G>T (p.Ala56Ser)
11g.18269270C>ACA379504662SAA1c.167C>A (p.Ala56Asp)
11g.18269270C>GCA379504664SAA1c.167C>G (p.Ala56Gly)
gnomAD v4
11g.18269270C>TCA379504667SAA1c.167C>T (p.Ala56Val)
gnomAD v4
11g.18269271T>ACA473366885SAA1c.168T>A (p.Ala56=)
11g.18269271T>CCA473366888SAA1c.168T>C (p.Ala56=)
11g.18269271T>GCA473366889SAA1c.168T>G (p.Ala56=)
dbSNP gnomAD v2 gnomAD v4
11g.18269271T=CA1955523698SAA1c.168T= (p.Ala56=)
11g.18269272C>ACA473366894SAA1c.169C>A (p.Arg57=)
11g.18269272C=CA1955523700SAA1c.169C= (p.Arg57=)
11g.18269272C>GCA379504669SAA1c.169C>G (p.Arg57Gly)
11g.18269272C>TCA5909463SAA1c.169C>T (p.Arg57Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.18269272_18269273delinsCGCA1955523699SAA1c.169_170delinsCG (p.Arg57=)
11g.18269273G>ACA5909465SAA1c.170G>A (p.Arg57Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269273G>CCA379504678SAA1c.170G>C (p.Arg57Pro)
11g.18269273G=CA1955523701SAA1c.170G= (p.Arg57=)
11g.18269273G>TCA379504675SAA1c.170G>T (p.Arg57Leu)
11g.18269277delCA5909464SAA1c.174del (p.Asn59ThrfsTer17)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269274G>ACA473366906SAA1c.171G>A (p.Arg57=)
11g.18269274G>CCA473366904SAA1c.171G>C (p.Arg57=)
11g.18269274G>TCA473366903SAA1c.171G>T (p.Arg57=)
11g.18269275G>ACA5909466SAA1c.172G>A (p.Gly58Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269275G>CCA379504683SAA1c.172G>C (p.Gly58Arg)
11g.18269275G=CA1955523702SAA1c.172G= (p.Gly58=)
11g.18269275G>TCA379504686SAA1c.172G>T (p.Gly58Trp)
11g.18269276G>ACA379504690SAA1c.173G>A (p.Gly58Glu)
11g.18269276G>CCA379504692SAA1c.173G>C (p.Gly58Ala)
dbSNP gnomAD v3 gnomAD v4
11g.18269276G=CA1955523703SAA1c.173G= (p.Gly58=)
11g.18269276G>TCA379504694SAA1c.173G>T (p.Gly58Val)
11g.18269277G>ACA473366918SAA1c.174G>A (p.Gly58=)
dbSNP gnomAD v2 gnomAD v4
11g.18269277G>CCA473366920SAA1c.174G>C (p.Gly58=)
11g.18269277G=CA1955523704SAA1c.174G= (p.Gly58=)
11g.18269277G>TCA473366921SAA1c.174G>T (p.Gly58=)
11g.18269278A>CCA379504698SAA1c.175A>C (p.Asn59His)
11g.18269278A>GCA379504704SAA1c.175A>G (p.Asn59Asp)
gnomAD v4
11g.18269278A>TCA379504706SAA1c.175A>T (p.Asn59Tyr)
11g.18269279A>CCA379504709SAA1c.176A>C (p.Asn59Thr)
11g.18269279A>GCA379504712SAA1c.176A>G (p.Asn59Ser)
11g.18269279A>TCA379504718SAA1c.176A>T (p.Asn59Ile)
11g.18269280C>ACA379504719SAA1c.177C>A (p.Asn59Lys)
dbSNP gnomAD v4
11g.18269280C=CA1955523705SAA1c.177C= (p.Asn59=)
11g.18269280C>GCA379504721SAA1c.177C>G (p.Asn59Lys)
11g.18269280C>TCA473366934SAA1c.177C>T (p.Asn59=)
gnomAD v4
11g.18269281T>ACA379504724SAA1c.178T>A (p.Tyr60Asn)
11g.18269281T>CCA379504726SAA1c.178T>C (p.Tyr60His)
11g.18269281T>GCA379504725SAA1c.178T>G (p.Tyr60Asp)
11g.18269282A=CA1955523706SAA1c.179A= (p.Tyr60=)
11g.18269282A>CCA379504727SAA1c.179A>C (p.Tyr60Ser)
11g.18269282A>GCA5909467SAA1c.179A>G (p.Tyr60Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269282A>TCA379504728SAA1c.179A>T (p.Tyr60Phe)
11g.18269283T>ACA379504729SAA1c.180T>A (p.Tyr60Ter)
11g.18269283T>CCA473366941SAA1c.180T>C (p.Tyr60=)
gnomAD v4
11g.18269283T>GCA379504731SAA1c.180T>G (p.Tyr60Ter)
11g.18269284G>ACA379504733SAA1c.181G>A (p.Asp61Asn)
11g.18269284G>CCA379504735SAA1c.181G>C (p.Asp61His)
11g.18269284G>TCA379504737SAA1c.181G>T (p.Asp61Tyr)
11g.18269285A=CA1955523707SAA1c.182A= (p.Asp61=)
11g.18269285A>CCA379504740SAA1c.182A>C (p.Asp61Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.18269285A>GCA379504742SAA1c.182A>G (p.Asp61Gly)
11g.18269285A>TCA379504744SAA1c.182A>T (p.Asp61Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.18269286T>ACA379504756SAA1c.183T>A (p.Asp61Glu)
11g.18269286T>CCA5909468SAA1c.183T>C (p.Asp61=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.18269286T>GCA379504747SAA1c.183T>G (p.Asp61Glu)
11g.18269286T=CA1955523708SAA1c.183T= (p.Asp61=)
11g.18269287G>ACA379504765SAA1c.184G>A (p.Ala62Thr)
11g.18269287G>CCA379504759SAA1c.184G>C (p.Ala62Pro)
11g.18269287G>TCA379504761SAA1c.184G>T (p.Ala62Ser)
gnomAD v4
11g.18269288C>ACA379504768SAA1c.185C>A (p.Ala62Asp)
gnomAD v4
11g.18269288C>GCA379504769SAA1c.185C>G (p.Ala62Gly)
11g.18269288C>TCA379504770SAA1c.185C>T (p.Ala62Val)
11g.18269289T>ACA473366959SAA1c.186T>A (p.Ala62=)
11g.18269289T>CCA473366960SAA1c.186T>C (p.Ala62=)
11g.18269289T>GCA473366962SAA1c.186T>G (p.Ala62=)
11g.18269290G>ACA379504776SAA1c.187G>A (p.Ala63Thr)
gnomAD v4
11g.18269290G>CCA379504774SAA1c.187G>C (p.Ala63Pro)
11g.18269290G>TCA379504772SAA1c.187G>T (p.Ala63Ser)
11g.18269291C>ACA379504778SAA1c.188C>A (p.Ala63Asp)
gnomAD v3 gnomAD v4
11g.18269291C>GCA379504780SAA1c.188C>G (p.Ala63Gly)
11g.18269291C>TCA379504781SAA1c.188C>T (p.Ala63Val)
gnomAD v4
11g.18269292C>ACA473366972SAA1c.189C>A (p.Ala63=)
11g.18269292C>GCA473366975SAA1c.189C>G (p.Ala63=)
11g.18269292C>TCA473366974SAA1c.189C>T (p.Ala63=)
11g.18269293A>CCA379504784SAA1c.190A>C (p.Lys64Gln)
11g.18269293A>GCA379504787SAA1c.190A>G (p.Lys64Glu)
COSMIC
11g.18269293A>TCA379504789SAA1c.190A>T (p.Lys64Ter)
11g.18269296delCA2790615017SAA1c.193del (p.Arg65GlyfsTer11)
11g.18269294A>CCA379504792SAA1c.191A>C (p.Lys64Thr)
gnomAD v3 gnomAD v4
11g.18269294A>GCA379504796SAA1c.191A>G (p.Lys64Arg)
gnomAD v4
11g.18269294A>TCA379504793SAA1c.191A>T (p.Lys64Ile)
11g.18269295A>CCA379504799SAA1c.192A>C (p.Lys64Asn)
gnomAD v3 gnomAD v4
11g.18269295A>GCA473366983SAA1c.192A>G (p.Lys64=)
11g.18269295A>TCA379504802SAA1c.192A>T (p.Lys64Asn)
11g.18269296A>CCA473366986SAA1c.193A>C (p.Arg65=)
11g.18269296A>GCA379504806SAA1c.193A>G (p.Arg65Gly)
gnomAD v4
11g.18269296A>TCA379504810SAA1c.193A>T (p.Arg65Trp)
11g.18269297G>ACA379504813SAA1c.194G>A (p.Arg65Lys)
gnomAD v4
11g.18269297G>CCA379504815SAA1c.194G>C (p.Arg65Thr)
11g.18269297G>TCA379504819SAA1c.194G>T (p.Arg65Met)
11g.18269298G>ACA473366995SAA1c.195G>A (p.Arg65=)
dbSNP gnomAD v4
11g.18269298G>CCA379504835SAA1c.195G>C (p.Arg65Ser)
11g.18269298G=CA1955523709SAA1c.195G= (p.Arg65=)
11g.18269298G>TCA379504837SAA1c.195G>T (p.Arg65Ser)
11g.18269299G>ACA379504841SAA1c.196G>A (p.Gly66Arg)
dbSNP gnomAD v2 gnomAD v4
11g.18269299G>CCA379504845SAA1c.196G>C (p.Gly66Arg)
11g.18269299G=CA1955523710SAA1c.196G= (p.Gly66=)
11g.18269299G>TCA379504848SAA1c.196G>T (p.Gly66Ter)
gnomAD v4
11g.18269300G>ACA379504859SAA1c.197G>A (p.Gly66Glu)
11g.18269300G>CCA379504858SAA1c.197G>C (p.Gly66Ala)
11g.18269300G>TCA379504852SAA1c.197G>T (p.Gly66Val)
gnomAD v4
11g.18269301A=CA1955523711SAA1c.198A= (p.Gly66=)
11g.18269301A>CCA473367010SAA1c.198A>C (p.Gly66=)
11g.18269301A>GCA473367008SAA1c.198A>G (p.Gly66=)
dbSNP gnomAD v4
11g.18269301A>TCA473367007SAA1c.198A>T (p.Gly66=)
11g.18269302C>ACA379504860SAA1c.199C>A (p.Pro67Thr)
gnomAD v4
11g.18269302C=CA1955523712SAA1c.199C= (p.Pro67=)
11g.18269302C>GCA379504861SAA1c.199C>G (p.Pro67Ala)
dbSNP gnomAD v4
11g.18269302C>TCA379504862SAA1c.199C>T (p.Pro67Ser)
ClinVar gnomAD v4
11g.18269303C>ACA379504865SAA1c.200C>A (p.Pro67His)
gnomAD v4
11g.18269303C=CA1955523713SAA1c.200C= (p.Pro67=)
11g.18269303C>GCA379504866SAA1c.200C>G (p.Pro67Arg)
11g.18269303C>TCA379504870SAA1c.200C>T (p.Pro67Leu)
dbSNP gnomAD v4
11g.18269304T>ACA473367019SAA1c.201T>A (p.Pro67=)
11g.18269304T>CCA473367021SAA1c.201T>C (p.Pro67=)
dbSNP gnomAD v4
11g.18269304T>GCA473367022SAA1c.201T>G (p.Pro67=)
gnomAD v4
11g.18269304T=CA1955523714SAA1c.201T= (p.Pro67=)
11g.18269304_18269305delinsTGCA1955523715SAA1c.201_202delinsTG (p.Pro67=)
11g.18269305G>ACA379504880SAA1c.202G>A (p.Gly68Arg)
dbSNP gnomAD v3 gnomAD v4
11g.18269305G>CCA379504877SAA1c.202G>C (p.Gly68Arg)
11g.18269305G=CA1955523716SAA1c.202G= (p.Gly68=)
11g.18269305G>TCA379504874SAA1c.202G>T (p.Gly68Trp)
11g.18269309dupCA1955523717SAA1c.206dup (p.Ala70CysfsTer?)
c.206dup (p.Ala70CysfsTer28)
dbSNP
11g.18269309delCA597451044SAA1c.206del (p.Gly69ValfsTer7)
dbSNP gnomAD v2 gnomAD v4
11g.18269306G>ACA379504885SAA1c.203G>A (p.Gly68Glu)
dbSNP
11g.18269306G>CCA379504888SAA1c.203G>C (p.Gly68Ala)
dbSNP gnomAD v2 gnomAD v4
11g.18269306G=CA1955523718SAA1c.203G= (p.Gly68=)
11g.18269306G>TCA379504890SAA1c.203G>T (p.Gly68Val)
11g.18269307G>ACA5909469SAA1c.204G>A (p.Gly68=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269307G>CCA473367036SAA1c.204G>C (p.Gly68=)
gnomAD v4
11g.18269307G=CA1955523719SAA1c.204G= (p.Gly68=)
11g.18269307G>TCA473367038SAA1c.204G>T (p.Gly68=)
11g.18269308G>ACA379504899SAA1c.205G>A (p.Gly69Ser)
11g.18269308G>CCA379504901SAA1c.205G>C (p.Gly69Arg)
11g.18269308G=CA1955523720SAA1c.205G= (p.Gly69=)
11g.18269308G>TCA379504903SAA1c.205G>T (p.Gly69Cys)
dbSNP gnomAD v2 gnomAD v4
11g.18269309G>ACA379504906SAA1c.206G>A (p.Gly69Asp)
gnomAD v4
11g.18269309G>CCA379504913SAA1c.206G>C (p.Gly69Ala)
11g.18269309G=CA1955523721SAA1c.206G= (p.Gly69=)
11g.18269309G>TCA379504910SAA1c.206G>T (p.Gly69Val)
dbSNP gnomAD v3 gnomAD v4
11g.18269310T>ACA473367048SAA1c.207T>A (p.Gly69=)
dbSNP gnomAD v2
11g.18269310T>CCA473367049SAA1c.207T>C (p.Gly69=)
gnomAD v4
11g.18269310T>GCA473367051SAA1c.207T>G (p.Gly69=)
dbSNP gnomAD v4
11g.18269310T=CA1955523722SAA1c.207T= (p.Gly69=)
11g.18269311G>ACA5909470SAA1c.208G>A (p.Ala70Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269311G>CCA379504919SAA1c.208G>C (p.Ala70Pro)
11g.18269311G=CA1955523723SAA1c.208G= (p.Ala70=)
11g.18269311G>TCA379504922SAA1c.208G>T (p.Ala70Ser)
11g.18269312_18269313insAGCCA2612727118SAA1c.209_210insAGC (p.Ala70_Trp71insAla)
gnomAD v4
11g.18269312C>ACA379504925SAA1c.209C>A (p.Ala70Asp)
gnomAD v4
11g.18269312C=CA1630848629SAA1c.209C= (p.Ala70=)
11g.18269312C>GCA379504929SAA1c.209C>G (p.Ala70Gly)
gnomAD v3 gnomAD v4
11g.18269312C>TCA127821SAA1c.209C>T (p.Ala70Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269313C>ACA473367061SAA1c.210C>A (p.Ala70=)
11g.18269313C>GCA473367063SAA1c.210C>G (p.Ala70=)
gnomAD v4
11g.18269313C>TCA473367064SAA1c.210C>T (p.Ala70=)
gnomAD v3 gnomAD v4
11g.18269314T>ACA379504936SAA1c.211T>A (p.Trp71Arg)
gnomAD v4
11g.18269314T>CCA218566055SAA1c.211T>C (p.Trp71Arg)
dbSNP gnomAD v2 gnomAD v4
11g.18269314T>GCA379504943SAA1c.211T>G (p.Trp71Gly)
gnomAD v4
11g.18269314T=CA1955523724SAA1c.211T= (p.Trp71=)
11g.18269315G>ACA379504950SAA1c.212G>A (p.Trp71Ter)
11g.18269315G>CCA379504951SAA1c.212G>C (p.Trp71Ser)
dbSNP gnomAD v3 gnomAD v4
11g.18269315G=CA1955523725SAA1c.212G= (p.Trp71=)
11g.18269315G>TCA379504955SAA1c.212G>T (p.Trp71Leu)
11g.18269315_18269317dupCA2612727128SAA1c.212_214dup (p.Trp71_Ala72insGly)
gnomAD v4
11g.18269316G>ACA379504961SAA1c.213G>A (p.Trp71Ter)
11g.18269316G>CCA379504971SAA1c.213G>C (p.Trp71Cys)
11g.18269316G>TCA379504967SAA1c.213G>T (p.Trp71Cys)
gnomAD v4
11g.18269317G>ACA379504974SAA1c.214G>A (p.Ala72Thr)
gnomAD v4
11g.18269317G>CCA379504980SAA1c.214G>C (p.Ala72Pro)
11g.18269317G>TCA379504983SAA1c.214G>T (p.Ala72Ser)
11g.18269318C>ACA379504987SAA1c.215C>A (p.Ala72Asp)
gnomAD v4
11g.18269318C>GCA379504988SAA1c.215C>G (p.Ala72Gly)
11g.18269318C>TCA379504989SAA1c.215C>T (p.Ala72Val)
gnomAD v4
11g.18269318_18269319delinsCTCA1955523726SAA1c.215_216delinsCT (p.Ala72=)
11g.18269319delCA935588640SAA1c.216del (p.Ala73GlnfsTer3)
dbSNP gnomAD v4
11g.18269319T>ACA473367086SAA1c.216T>A (p.Ala72=)
11g.18269319T>CCA5909471SAA1c.216T>C (p.Ala72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269319T>GCA473367091SAA1c.216T>G (p.Ala72=)
gnomAD v4
11g.18269319T=CA1955523727SAA1c.216T= (p.Ala72=)
11g.18269320G>ACA379504992SAA1c.217G>A (p.Ala73Thr)
gnomAD v4
11g.18269320G>CCA379504994SAA1c.217G>C (p.Ala73Pro)
11g.18269320G>TCA379504996SAA1c.217G>T (p.Ala73Ser)
gnomAD v4
11g.18269321C>ACA379505006SAA1c.218C>A (p.Ala73Glu)
gnomAD v3 gnomAD v4
11g.18269321C=CA1955523728SAA1c.218C= (p.Ala73=)
11g.18269321C>GCA379505010SAA1c.218C>G (p.Ala73Gly)
11g.18269321C>TCA379505012SAA1c.218C>T (p.Ala73Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.18269322A>CCA473367099SAA1c.219A>C (p.Ala73=)
11g.18269322A>GCA473367102SAA1c.219A>G (p.Ala73=)
11g.18269322A>TCA473367101SAA1c.219A>T (p.Ala73=)
gnomAD v4
11g.18269323G>ACA379505021SAA1c.220G>A (p.Glu74Lys)
11g.18269323G>CCA379505014SAA1c.220G>C (p.Glu74Gln)
dbSNP gnomAD v2 gnomAD v4
11g.18269323G=CA1955523729SAA1c.220G= (p.Glu74=)
11g.18269323G>TCA379505018SAA1c.220G>T (p.Glu74Ter)
11g.18269324A=CA1955523730SAA1c.221A= (p.Glu74=)
11g.18269324A>CCA379505023SAA1c.221A>C (p.Glu74Ala)
gnomAD v4
11g.18269324A>GCA379505024SAA1c.221A>G (p.Glu74Gly)
dbSNP gnomAD v2 gnomAD v4
11g.18269324A>TCA379505026SAA1c.221A>T (p.Glu74Val)
11g.18269325A=CA1955523731SAA1c.222A= (p.Glu74=)
11g.18269325A>CCA5909472SAA1c.222A>C (p.Glu74Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269325A>GCA473367110SAA1c.222A>G (p.Glu74=)
11g.18269325A>TCA379505030SAA1c.222A>T (p.Glu74Asp)
11g.18269326G>ACA379505034SAA1c.223G>A (p.Val75Met)
dbSNP gnomAD v2 gnomAD v4
11g.18269326G>CCA379505038SAA1c.223G>C (p.Val75Leu)
11g.18269326G=CA1955523732SAA1c.223G= (p.Val75=)
11g.18269326G>TCA379505039SAA1c.223G>T (p.Val75Leu)
dbSNP gnomAD v2 gnomAD v4
11g.18269327T>ACA379505042SAA1c.224T>A (p.Val75Glu)
gnomAD v3 gnomAD v4
11g.18269327T>CCA5909473SAA1c.224T>C (p.Val75Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.18269327T>GCA379505049SAA1c.224T>G (p.Val75Gly)
gnomAD v3 gnomAD v4
11g.18269327T=CA1955523733SAA1c.224T= (p.Val75=)

Number of alleles fetched