Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.73977906A=CA1982686232UCP2c.317T= (p.Phe106=)
c.236T= (p.Phe79=)
c.320T= (p.Phe107=)
11g.73977906A>CCA381811630UCP2c.317T>G (p.Phe106Cys)
c.236T>G (p.Phe79Cys)
c.320T>G (p.Phe107Cys)
11g.73977906A>GCA381811631UCP2c.317T>C (p.Phe106Ser)
c.236T>C (p.Phe79Ser)
c.320T>C (p.Phe107Ser)
 dbSNP gnomAD v4
11g.73977906A>TCA381811632UCP2c.317T>A (p.Phe106Tyr)
c.236T>A (p.Phe79Tyr)
c.320T>A (p.Phe107Tyr)
11g.73977907A>CCA381811633UCP2c.316T>G (p.Phe106Val)
c.235T>G (p.Phe79Val)
c.319T>G (p.Phe107Val)
11g.73977907A>GCA381811634UCP2c.316T>C (p.Phe106Leu)
c.235T>C (p.Phe79Leu)
c.319T>C (p.Phe107Leu)
11g.73977907A>TCA381811635UCP2c.316T>A (p.Phe106Ile)
c.235T>A (p.Phe79Ile)
c.319T>A (p.Phe107Ile)
11g.73977908C>ACA381811637UCP2c.315G>T (p.Gln105His)
c.234G>T (p.Gln78His)
c.318G>T (p.Gln106His)
11g.73977908C>GCA381811636UCP2c.315G>C (p.Gln105His)
c.234G>C (p.Gln78His)
c.318G>C (p.Gln106His)
11g.73977908C>TCA475655700UCP2c.315G>A (p.Gln105=)
c.234G>A (p.Gln78=)
c.318G>A (p.Gln106=)
 gnomAD v4
11g.73977909T>ACA381811638UCP2c.314A>T (p.Gln105Leu)
c.233A>T (p.Gln78Leu)
c.317A>T (p.Gln106Leu)
11g.73977909T>CCA381811639UCP2c.314A>G (p.Gln105Arg)
c.233A>G (p.Gln78Arg)
c.317A>G (p.Gln106Arg)
11g.73977909T>GCA381811640UCP2c.314A>C (p.Gln105Pro)
c.233A>C (p.Gln78Pro)
c.317A>C (p.Gln106Pro)
11g.73977910G>ACA381811641UCP2c.313C>T (p.Gln105Ter)
c.232C>T (p.Gln78Ter)
c.316C>T (p.Gln106Ter)
11g.73977910G>CCA381811642UCP2c.313C>G (p.Gln105Glu)
c.232C>G (p.Gln78Glu)
c.316C>G (p.Gln106Glu)
 dbSNP
11g.73977910G=CA1982686233UCP2c.313C= (p.Gln105=)
c.232C= (p.Gln78=)
c.316C= (p.Gln106=)
11g.73977910G>TCA381811643UCP2c.313C>A (p.Gln105Lys)
c.232C>A (p.Gln78Lys)
c.316C>A (p.Gln106Lys)
11g.73977911T>ACA381811644UCP2c.312A>T (p.Lys104Asn)
c.231A>T (p.Lys77Asn)
c.315A>T (p.Lys105Asn)
11g.73977911T>CCA475655701UCP2c.312A>G (p.Lys104=)
c.231A>G (p.Lys77=)
c.315A>G (p.Lys105=)
11g.73977911T>GCA381811645UCP2c.312A>C (p.Lys104Asn)
c.231A>C (p.Lys77Asn)
c.315A>C (p.Lys105Asn)
11g.73977912T>ACA381811646UCP2c.311A>T (p.Lys104Ile)
c.230A>T (p.Lys77Ile)
c.314A>T (p.Lys105Ile)
11g.73977912T>CCA381811647UCP2c.311A>G (p.Lys104Arg)
c.230A>G (p.Lys77Arg)
c.314A>G (p.Lys105Arg)
 dbSNP
11g.73977912T>GCA381811648UCP2c.311A>C (p.Lys104Thr)
c.230A>C (p.Lys77Thr)
c.314A>C (p.Lys105Thr)
11g.73977912T=CA1982686234UCP2c.311A= (p.Lys104=)
c.230A= (p.Lys77=)
c.314A= (p.Lys105=)
11g.73977913T>ACA381811650UCP2c.310A>T (p.Lys104Ter)
c.229A>T (p.Lys77Ter)
c.313A>T (p.Lys105Ter)
11g.73977913T>CCA6181183UCP2c.310A>G (p.Lys104Glu)
c.229A>G (p.Lys77Glu)
c.313A>G (p.Lys105Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977913T>GCA381811649UCP2c.310A>C (p.Lys104Gln)
c.229A>C (p.Lys77Gln)
c.313A>C (p.Lys105Gln)
11g.73977913T=CA1982686235UCP2c.310A= (p.Lys104=)
c.229A= (p.Lys77=)
c.313A= (p.Lys105=)
11g.73977914G>ACA475655702UCP2c.309C>T (p.Val103=)
c.228C>T (p.Val76=)
c.312C>T (p.Val104=)
11g.73977914G>CCA475655703UCP2c.309C>G (p.Val103=)
c.228C>G (p.Val76=)
c.312C>G (p.Val104=)
11g.73977914G>TCA475655704UCP2c.309C>A (p.Val103=)
c.228C>A (p.Val76=)
c.312C>A (p.Val104=)
11g.73977915A>CCA381811651UCP2c.308T>G (p.Val103Gly)
c.227T>G (p.Val76Gly)
c.311T>G (p.Val104Gly)
11g.73977915A>GCA381811652UCP2c.308T>C (p.Val103Ala)
c.227T>C (p.Val76Ala)
c.311T>C (p.Val104Ala)
11g.73977915A>TCA381811653UCP2c.308T>A (p.Val103Asp)
c.227T>A (p.Val76Asp)
c.311T>A (p.Val104Asp)
11g.73977916C>ACA381811654UCP2c.307G>T (p.Val103Phe)
c.226G>T (p.Val76Phe)
c.310G>T (p.Val104Phe)
11g.73977916C>GCA381811655UCP2c.307G>C (p.Val103Leu)
c.226G>C (p.Val76Leu)
c.310G>C (p.Val104Leu)
11g.73977916C>TCA381811656UCP2c.307G>A (p.Val103Ile)
c.226G>A (p.Val76Ile)
c.310G>A (p.Val104Ile)
11g.73977917A>CCA475655705UCP2c.306T>G (p.Ser102=)
c.225T>G (p.Ser75=)
c.309T>G (p.Ser103=)
11g.73977917A>GCA475655706UCP2c.306T>C (p.Ser102=)
c.225T>C (p.Ser75=)
c.309T>C (p.Ser103=)
11g.73977917A>TCA475655707UCP2c.306T>A (p.Ser102=)
c.225T>A (p.Ser75=)
c.309T>A (p.Ser103=)
11g.73977918G>ACA381811659UCP2c.305C>T (p.Ser102Phe)
c.224C>T (p.Ser75Phe)
c.308C>T (p.Ser103Phe)
 gnomAD v4
11g.73977918G>CCA381811657UCP2c.305C>G (p.Ser102Cys)
c.224C>G (p.Ser75Cys)
c.308C>G (p.Ser103Cys)
 gnomAD v4
11g.73977918G>TCA381811658UCP2c.305C>A (p.Ser102Tyr)
c.224C>A (p.Ser75Tyr)
c.308C>A (p.Ser103Tyr)
11g.73977919A>CCA381811660UCP2c.304T>G (p.Ser102Ala)
c.223T>G (p.Ser75Ala)
c.307T>G (p.Ser103Ala)
11g.73977919A>GCA381811661UCP2c.304T>C (p.Ser102Pro)
c.223T>C (p.Ser75Pro)
c.307T>C (p.Ser103Pro)
11g.73977919A>TCA381811662UCP2c.304T>A (p.Ser102Thr)
c.223T>A (p.Ser75Thr)
c.307T>A (p.Ser103Thr)
11g.73977920A=CA1982686236UCP2c.303T= (p.Asp101=)
c.222T= (p.Asp74=)
c.306T= (p.Asp102=)
11g.73977920A>CCA381811663UCP2c.303T>G (p.Asp101Glu)
c.222T>G (p.Asp74Glu)
c.306T>G (p.Asp102Glu)
11g.73977920A>GCA475655708UCP2c.303T>C (p.Asp101=)
c.222T>C (p.Asp74=)
c.306T>C (p.Asp102=)
11g.73977920A>TCA6181184UCP2c.303T>A (p.Asp101Glu)
c.222T>A (p.Asp74Glu)
c.306T>A (p.Asp102Glu)
 dbSNP ExAC gnomAD v2
11g.73977921T>ACA381811664UCP2c.302A>T (p.Asp101Val)
c.221A>T (p.Asp74Val)
c.305A>T (p.Asp102Val)
11g.73977921T>CCA381811666UCP2c.302A>G (p.Asp101Gly)
c.221A>G (p.Asp74Gly)
c.305A>G (p.Asp102Gly)
11g.73977921T>GCA381811665UCP2c.302A>C (p.Asp101Ala)
c.221A>C (p.Asp74Ala)
c.305A>C (p.Asp102Ala)
11g.73977922C>ACA381811667UCP2c.301G>T (p.Asp101Tyr)
c.220G>T (p.Asp74Tyr)
c.304G>T (p.Asp102Tyr)
11g.73977922C>GCA381811668UCP2c.301G>C (p.Asp101His)
c.220G>C (p.Asp74His)
c.304G>C (p.Asp102His)
11g.73977922C>TCA381811669UCP2c.301G>A (p.Asp101Asn)
c.220G>A (p.Asp74Asn)
c.304G>A (p.Asp102Asn)
 gnomAD v4
11g.73977923A>CCA381811670UCP2c.300T>G (p.Tyr100Ter)
c.219T>G (p.Tyr73Ter)
c.303T>G (p.Tyr101Ter)
11g.73977923A>GCA475655709UCP2c.300T>C (p.Tyr100=)
c.219T>C (p.Tyr73=)
c.303T>C (p.Tyr101=)
11g.73977923A>TCA381811671UCP2c.300T>A (p.Tyr100Ter)
c.219T>A (p.Tyr73Ter)
c.303T>A (p.Tyr101Ter)
11g.73977924T>ACA381811672UCP2c.299A>T (p.Tyr100Phe)
c.218A>T (p.Tyr73Phe)
c.302A>T (p.Tyr101Phe)
11g.73977924T>CCA381811673UCP2c.299A>G (p.Tyr100Cys)
c.218A>G (p.Tyr73Cys)
c.302A>G (p.Tyr101Cys)
 gnomAD v4
11g.73977924T>GCA381811674UCP2c.299A>C (p.Tyr100Ser)
c.218A>C (p.Tyr73Ser)
c.302A>C (p.Tyr101Ser)
11g.73977925A>CCA381811675UCP2c.298T>G (p.Tyr100Asp)
c.217T>G (p.Tyr73Asp)
c.301T>G (p.Tyr101Asp)
11g.73977925A>GCA381811676UCP2c.298T>C (p.Tyr100His)
c.217T>C (p.Tyr73His)
c.301T>C (p.Tyr101His)
 dbSNP
11g.73977925A>TCA381811677UCP2c.298T>A (p.Tyr100Asn)
c.217T>A (p.Tyr73Asn)
c.301T>A (p.Tyr101Asn)
11g.73977926C>ACA475655710UCP2c.297G>T (p.Leu99=)
c.216G>T (p.Leu72=)
c.300G>T (p.Leu100=)
11g.73977926C=CA1982686237UCP2c.297G= (p.Leu99=)
c.216G= (p.Leu72=)
c.300G= (p.Leu100=)
11g.73977926C>GCA475655711UCP2c.297G>C (p.Leu99=)
c.216G>C (p.Leu72=)
c.300G>C (p.Leu100=)
 dbSNP
11g.73977926C>TCA475655712UCP2c.297G>A (p.Leu99=)
c.216G>A (p.Leu72=)
c.300G>A (p.Leu100=)
 gnomAD v4
11g.73977927A=CA1982686238UCP2c.296T= (p.Leu99=)
c.215T= (p.Leu72=)
c.299T= (p.Leu100=)
11g.73977927A>CCA381811679UCP2c.296T>G (p.Leu99Arg)
c.215T>G (p.Leu72Arg)
c.299T>G (p.Leu100Arg)
11g.73977927A>GCA381811678UCP2c.296T>C (p.Leu99Pro)
c.215T>C (p.Leu72Pro)
c.299T>C (p.Leu100Pro)
11g.73977927A>TCA224505640UCP2c.296T>A (p.Leu99Gln)
c.215T>A (p.Leu72Gln)
c.299T>A (p.Leu100Gln)
 dbSNP
11g.73977928G>ACA475655713UCP2c.295C>T (p.Leu99=)
c.214C>T (p.Leu72=)
c.298C>T (p.Leu100=)
11g.73977928G>CCA381811680UCP2c.295C>G (p.Leu99Val)
c.214C>G (p.Leu72Val)
c.298C>G (p.Leu100Val)
11g.73977928G>TCA381811681UCP2c.295C>A (p.Leu99Met)
c.214C>A (p.Leu72Met)
c.298C>A (p.Leu100Met)
11g.73977929G>ACA475655716UCP2c.294C>T (p.Gly98=)
c.213C>T (p.Gly71=)
c.297C>T (p.Gly99=)
11g.73977929G>CCA475655715UCP2c.294C>G (p.Gly98=)
c.213C>G (p.Gly71=)
c.297C>G (p.Gly99=)
11g.73977929G>TCA475655714UCP2c.294C>A (p.Gly98=)
c.213C>A (p.Gly71=)
c.297C>A (p.Gly99=)
11g.73977930C>ACA381811682UCP2c.293G>T (p.Gly98Val)
c.212G>T (p.Gly71Val)
c.296G>T (p.Gly99Val)
11g.73977930C>GCA381811684UCP2c.293G>C (p.Gly98Ala)
c.212G>C (p.Gly71Ala)
c.296G>C (p.Gly99Ala)
11g.73977930C>TCA381811683UCP2c.293G>A (p.Gly98Asp)
c.212G>A (p.Gly71Asp)
c.296G>A (p.Gly99Asp)
11g.73977931C>ACA381811685UCP2c.292G>T (p.Gly98Cys)
c.211G>T (p.Gly71Cys)
c.295G>T (p.Gly99Cys)
11g.73977931C=CA1982686239UCP2c.292G= (p.Gly98=)
c.211G= (p.Gly71=)
c.295G= (p.Gly99=)
11g.73977931C>GCA381811686UCP2c.292G>C (p.Gly98Arg)
c.211G>C (p.Gly71Arg)
c.295G>C (p.Gly99Arg)
11g.73977931C>TCA6181185UCP2c.292G>A (p.Gly98Ser)
c.211G>A (p.Gly71Ser)
c.295G>A (p.Gly99Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977932G>ACA6181186UCP2c.291C>T (p.Ile97=)
c.210C>T (p.Ile70=)
c.294C>T (p.Ile98=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977932G>CCA381811687UCP2c.291C>G (p.Ile97Met)
c.210C>G (p.Ile70Met)
c.294C>G (p.Ile98Met)
11g.73977932G=CA1982686240UCP2c.291C= (p.Ile97=)
c.210C= (p.Ile70=)
c.294C= (p.Ile98=)
11g.73977932G>TCA475655717UCP2c.291C>A (p.Ile97=)
c.210C>A (p.Ile70=)
c.294C>A (p.Ile98=)
11g.73977933A>CCA381811688UCP2c.290T>G (p.Ile97Ser)
c.209T>G (p.Ile70Ser)
c.293T>G (p.Ile98Ser)
11g.73977933A>GCA381811689UCP2c.290T>C (p.Ile97Thr)
c.209T>C (p.Ile70Thr)
c.293T>C (p.Ile98Thr)
11g.73977933A>TCA381811690UCP2c.290T>A (p.Ile97Asn)
c.209T>A (p.Ile70Asn)
c.293T>A (p.Ile98Asn)
11g.73977934T>ACA381811691UCP2c.289A>T (p.Ile97Phe)
c.208A>T (p.Ile70Phe)
c.292A>T (p.Ile98Phe)
 dbSNP gnomAD v4
11g.73977934T>CCA6181187UCP2c.289A>G (p.Ile97Val)
c.208A>G (p.Ile70Val)
c.292A>G (p.Ile98Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977934T>GCA381811692UCP2c.289A>C (p.Ile97Leu)
c.208A>C (p.Ile70Leu)
c.292A>C (p.Ile98Leu)
 gnomAD v4
11g.73977934T=CA1982686241UCP2c.289A= (p.Ile97=)
c.208A= (p.Ile70=)
c.292A= (p.Ile98=)
11g.73977935delCA2615057160UCP2c.288del (p.Ile97SerfsTer25)
c.207del (p.Ile70SerfsTer25)
c.291del (p.Ile98SerfsTer25)
c.288del (p.Ile97SerfsTer?)
 gnomAD v4
11g.73977935G>ACA475655718UCP2c.288C>T (p.Arg96=)
c.207C>T (p.Arg69=)
c.291C>T (p.Arg97=)
 dbSNP
11g.73977935G>CCA475655719UCP2c.288C>G (p.Arg96=)
c.207C>G (p.Arg69=)
c.291C>G (p.Arg97=)
11g.73977935G=CA1982686242UCP2c.288C= (p.Arg96=)
c.207C= (p.Arg69=)
c.291C= (p.Arg97=)
11g.73977935G>TCA475655720UCP2c.288C>A (p.Arg96=)
c.207C>A (p.Arg69=)
c.291C>A (p.Arg97=)
11g.73977936C>ACA6181189UCP2c.287G>T (p.Arg96Leu)
c.206G>T (p.Arg69Leu)
c.290G>T (p.Arg97Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977936C=CA1982686243UCP2c.287G= (p.Arg96=)
c.206G= (p.Arg69=)
c.290G= (p.Arg97=)
11g.73977936C>GCA381811693UCP2c.287G>C (p.Arg96Pro)
c.206G>C (p.Arg69Pro)
c.290G>C (p.Arg97Pro)
11g.73977936C>TCA6181188UCP2c.287G>A (p.Arg96His)
c.206G>A (p.Arg69His)
c.290G>A (p.Arg97His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977937G>ACA6181191UCP2c.286C>T (p.Arg96Cys)
c.205C>T (p.Arg69Cys)
c.289C>T (p.Arg97Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977937G>CCA6181190UCP2c.286C>G (p.Arg96Gly)
c.205C>G (p.Arg69Gly)
c.289C>G (p.Arg97Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977937G=CA1982686244UCP2c.286C= (p.Arg96=)
c.205C= (p.Arg69=)
c.289C= (p.Arg97=)
11g.73977937G>TCA381811694UCP2c.286C>A (p.Arg96Ser)
c.205C>A (p.Arg69Ser)
c.289C>A (p.Arg97Ser)
11g.73977939_73977945dupCA645594375UCP2c.280_286dup (p.Arg96LeufsTer8)
c.199_205dup (p.Arg69LeufsTer8)
c.283_289dup (p.Arg97LeufsTer8)
 COSMIC
11g.73977938G>ACA6181192UCP2c.285C>T (p.Val95=)
c.204C>T (p.Val68=)
c.288C>T (p.Val96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977938G>CCA475655721UCP2c.285C>G (p.Val95=)
c.204C>G (p.Val68=)
c.288C>G (p.Val96=)
11g.73977938G=CA1982686245UCP2c.285C= (p.Val95=)
c.204C= (p.Val68=)
c.288C= (p.Val96=)
11g.73977938G>TCA475655722UCP2c.285C>A (p.Val95=)
c.204C>A (p.Val68=)
c.288C>A (p.Val96=)
11g.73977939A>CCA381811695UCP2c.284T>G (p.Val95Gly)
c.203T>G (p.Val68Gly)
c.287T>G (p.Val96Gly)
11g.73977939A>GCA381811696UCP2c.284T>C (p.Val95Ala)
c.203T>C (p.Val68Ala)
c.287T>C (p.Val96Ala)
11g.73977939A>TCA381811697UCP2c.284T>A (p.Val95Asp)
c.203T>A (p.Val68Asp)
c.287T>A (p.Val96Asp)
11g.73977940C>ACA381811698UCP2c.283G>T (p.Val95Phe)
c.202G>T (p.Val68Phe)
c.286G>T (p.Val96Phe)
11g.73977940C=CA1982686246UCP2c.283G= (p.Val95=)
c.202G= (p.Val68=)
c.286G= (p.Val96=)
11g.73977940C>GCA381811699UCP2c.283G>C (p.Val95Leu)
c.202G>C (p.Val68Leu)
c.286G>C (p.Val96Leu)
11g.73977940C>TCA381811700UCP2c.283G>A (p.Val95Ile)
c.202G>A (p.Val68Ile)
c.286G>A (p.Val96Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73977941A>CCA475655723UCP2c.282T>G (p.Ser94=)
c.201T>G (p.Ser67=)
c.285T>G (p.Ser95=)
11g.73977941A>GCA475655724UCP2c.282T>C (p.Ser94=)
c.201T>C (p.Ser67=)
c.285T>C (p.Ser95=)
11g.73977941A>TCA475655725UCP2c.282T>A (p.Ser94=)
c.201T>A (p.Ser67=)
c.285T>A (p.Ser95=)
11g.73977942G>ACA381811702UCP2c.281C>T (p.Ser94Phe)
c.200C>T (p.Ser67Phe)
c.284C>T (p.Ser95Phe)
11g.73977942G>CCA381811703UCP2c.281C>G (p.Ser94Cys)
c.200C>G (p.Ser67Cys)
c.284C>G (p.Ser95Cys)
11g.73977942G=CA1982686247UCP2c.281C= (p.Ser94=)
c.200C= (p.Ser67=)
c.284C= (p.Ser95=)
11g.73977942G>TCA381811701UCP2c.281C>A (p.Ser94Tyr)
c.200C>A (p.Ser67Tyr)
c.284C>A (p.Ser95Tyr)
 dbSNP
11g.73977943A>CCA381811704UCP2c.280T>G (p.Ser94Ala)
c.199T>G (p.Ser67Ala)
c.283T>G (p.Ser95Ala)
11g.73977943A>GCA381811705UCP2c.280T>C (p.Ser94Pro)
c.199T>C (p.Ser67Pro)
c.283T>C (p.Ser95Pro)
11g.73977943A>TCA381811706UCP2c.280T>A (p.Ser94Thr)
c.199T>A (p.Ser67Thr)
c.283T>A (p.Ser95Thr)
11g.73977943_73977944insTTTCA2615057172UCP2c.279_280insAAA (p.Ala93_Ser94insLys)
c.198_199insAAA (p.Ala66_Ser67insLys)
c.282_283insAAA (p.Ala94_Ser95insLys)
 gnomAD v4
11g.73977944G>ACA475655726UCP2c.279C>T (p.Ala93=)
c.198C>T (p.Ala66=)
c.282C>T (p.Ala94=)
11g.73977944G>CCA475655727UCP2c.279C>G (p.Ala93=)
c.198C>G (p.Ala66=)
c.282C>G (p.Ala94=)
11g.73977944G>TCA475655728UCP2c.279C>A (p.Ala93=)
c.198C>A (p.Ala66=)
c.282C>A (p.Ala94=)
11g.73977944_73977945insATCA2615057175UCP2c.278_279insAT (p.Val95LeufsTer28)
c.197_198insAT (p.Val68LeufsTer28)
c.281_282insAT (p.Val96LeufsTer28)
c.278_279insAT (p.Val95LeufsTer?)
 gnomAD v4
11g.73977945G>ACA381811707UCP2c.278C>T (p.Ala93Val)
c.197C>T (p.Ala66Val)
c.281C>T (p.Ala94Val)
 gnomAD v4
11g.73977945G>CCA381811708UCP2c.278C>G (p.Ala93Gly)
c.197C>G (p.Ala66Gly)
c.281C>G (p.Ala94Gly)
11g.73977945G>TCA381811709UCP2c.278C>A (p.Ala93Asp)
c.197C>A (p.Ala66Asp)
c.281C>A (p.Ala94Asp)
11g.73977946C>ACA381811712UCP2c.277G>T (p.Ala93Ser)
c.196G>T (p.Ala66Ser)
c.280G>T (p.Ala94Ser)
11g.73977946C>GCA381811710UCP2c.277G>C (p.Ala93Pro)
c.196G>C (p.Ala66Pro)
c.280G>C (p.Ala94Pro)
11g.73977946C>TCA381811711UCP2c.277G>A (p.Ala93Thr)
c.196G>A (p.Ala66Thr)
c.280G>A (p.Ala94Thr)
11g.73977947A>CCA381811713UCP2c.276T>G (p.Phe92Leu)
c.195T>G (p.Phe65Leu)
c.279T>G (p.Phe93Leu)
11g.73977947A>GCA475655729UCP2c.276T>C (p.Phe92=)
c.195T>C (p.Phe65=)
c.279T>C (p.Phe93=)
11g.73977947A>TCA381811714UCP2c.276T>A (p.Phe92Leu)
c.195T>A (p.Phe65Leu)
c.279T>A (p.Phe93Leu)
11g.73977948A>CCA381811715UCP2c.275T>G (p.Phe92Cys)
c.194T>G (p.Phe65Cys)
c.278T>G (p.Phe93Cys)
11g.73977948A>GCA381811716UCP2c.275T>C (p.Phe92Ser)
c.194T>C (p.Phe65Ser)
c.278T>C (p.Phe93Ser)
11g.73977948A>TCA381811717UCP2c.275T>A (p.Phe92Tyr)
c.194T>A (p.Phe65Tyr)
c.278T>A (p.Phe93Tyr)
11g.73977949A=CA1982686248UCP2c.274T= (p.Phe92=)
c.193T= (p.Phe65=)
c.277T= (p.Phe93=)
11g.73977949A>CCA381811718UCP2c.274T>G (p.Phe92Val)
c.193T>G (p.Phe65Val)
c.277T>G (p.Phe93Val)
11g.73977949A>GCA381811720UCP2c.274T>C (p.Phe92Leu)
c.193T>C (p.Phe65Leu)
c.277T>C (p.Phe93Leu)
11g.73977949A>TCA381811719UCP2c.274T>A (p.Phe92Ile)
c.193T>A (p.Phe65Ile)
c.277T>A (p.Phe93Ile)
 dbSNP gnomAD v2
11g.73977950G>ACA475655730UCP2c.273C>T (p.Ser91=)
c.192C>T (p.Ser64=)
c.276C>T (p.Ser92=)
11g.73977950G>CCA381811721UCP2c.273C>G (p.Ser91Arg)
c.192C>G (p.Ser64Arg)
c.276C>G (p.Ser92Arg)
11g.73977950G>TCA381811722UCP2c.273C>A (p.Ser91Arg)
c.192C>A (p.Ser64Arg)
c.276C>A (p.Ser92Arg)
11g.73977951C>ACA381811723UCP2c.272G>T (p.Ser91Ile)
c.191G>T (p.Ser64Ile)
c.275G>T (p.Ser92Ile)
11g.73977951C=CA1982686249UCP2c.272G= (p.Ser91=)
c.191G= (p.Ser64=)
c.275G= (p.Ser92=)
11g.73977951C>GCA381811724UCP2c.272G>C (p.Ser91Thr)
c.191G>C (p.Ser64Thr)
c.275G>C (p.Ser92Thr)
11g.73977951C>TCA381811725UCP2c.272G>A (p.Ser91Asn)
c.191G>A (p.Ser64Asn)
c.275G>A (p.Ser92Asn)
 dbSNP
11g.73977952T>ACA381811726UCP2c.271A>T (p.Ser91Cys)
c.190A>T (p.Ser64Cys)
c.274A>T (p.Ser92Cys)
11g.73977952T>CCA381811727UCP2c.271A>G (p.Ser91Gly)
c.190A>G (p.Ser64Gly)
c.274A>G (p.Ser92Gly)
11g.73977952T>GCA381811728UCP2c.271A>C (p.Ser91Arg)
c.190A>C (p.Ser64Arg)
c.274A>C (p.Ser92Arg)
11g.73977953C>ACA381811729UCP2c.270G>T (p.Met90Ile)
c.189G>T (p.Met63Ile)
c.273G>T (p.Met91Ile)
 dbSNP
11g.73977953C=CA1982686250UCP2c.270G= (p.Met90=)
c.189G= (p.Met63=)
c.273G= (p.Met91=)
11g.73977953C>GCA381811730UCP2c.270G>C (p.Met90Ile)
c.189G>C (p.Met63Ile)
c.273G>C (p.Met91Ile)
11g.73977953C>TCA6181193UCP2c.270G>A (p.Met90Ile)
c.189G>A (p.Met63Ile)
c.273G>A (p.Met91Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977954A>CCA381811733UCP2c.269T>G (p.Met90Arg)
c.188T>G (p.Met63Arg)
c.272T>G (p.Met91Arg)
 gnomAD v4
11g.73977954A>GCA381811732UCP2c.269T>C (p.Met90Thr)
c.188T>C (p.Met63Thr)
c.272T>C (p.Met91Thr)
11g.73977954A>TCA381811731UCP2c.269T>A (p.Met90Lys)
c.188T>A (p.Met63Lys)
c.272T>A (p.Met91Lys)
11g.73977955T>ACA381811734UCP2c.268A>T (p.Met90Leu)
c.187A>T (p.Met63Leu)
c.271A>T (p.Met91Leu)
11g.73977955T>CCA6181194UCP2c.268A>G (p.Met90Val)
c.187A>G (p.Met63Val)
c.271A>G (p.Met91Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977955T>GCA381811735UCP2c.268A>C (p.Met90Leu)
c.187A>C (p.Met63Leu)
c.271A>C (p.Met91Leu)
11g.73977955T=CA1982686251UCP2c.268A= (p.Met90=)
c.187A= (p.Met63=)
c.271A= (p.Met91=)
11g.73977956T>ACA381811736UCP2c.267A>T (p.Gln89His)
c.186A>T (p.Gln62His)
c.270A>T (p.Gln90His)
11g.73977956T>CCA475655733UCP2c.267A>G (p.Gln89=)
c.186A>G (p.Gln62=)
c.270A>G (p.Gln90=)
 dbSNP gnomAD v4
11g.73977956T>GCA381811737UCP2c.267A>C (p.Gln89His)
c.186A>C (p.Gln62His)
c.270A>C (p.Gln90His)
 gnomAD v4
11g.73977956T=CA1982686252UCP2c.267A= (p.Gln89=)
c.186A= (p.Gln62=)
c.270A= (p.Gln90=)
11g.73977957T>ACA381811738UCP2c.266A>T (p.Gln89Leu)
c.185A>T (p.Gln62Leu)
c.269A>T (p.Gln90Leu)
11g.73977957T>CCA381811739UCP2c.266A>G (p.Gln89Arg)
c.185A>G (p.Gln62Arg)
c.269A>G (p.Gln90Arg)
11g.73977957T>GCA381811740UCP2c.266A>C (p.Gln89Pro)
c.185A>C (p.Gln62Pro)
c.269A>C (p.Gln90Pro)
11g.73977958G>ACA381811741UCP2c.265C>T (p.Gln89Ter)
c.184C>T (p.Gln62Ter)
c.268C>T (p.Gln90Ter)
11g.73977958G>CCA6181195UCP2c.265C>G (p.Gln89Glu)
c.184C>G (p.Gln62Glu)
c.268C>G (p.Gln90Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977958G=CA1982686253UCP2c.265C= (p.Gln89=)
c.184C= (p.Gln62=)
c.268C= (p.Gln90=)
11g.73977958G>TCA381811742UCP2c.265C>A (p.Gln89Lys)
c.184C>A (p.Gln62Lys)
c.268C>A (p.Gln90Lys)
11g.73977959G>ACA6181196UCP2c.264C>T (p.Arg88=)
c.183C>T (p.Arg61=)
c.267C>T (p.Arg89=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977959G>CCA475655734UCP2c.264C>G (p.Arg88=)
c.183C>G (p.Arg61=)
c.267C>G (p.Arg89=)
11g.73977959G=CA1982686254UCP2c.264C= (p.Arg88=)
c.183C= (p.Arg61=)
c.267C= (p.Arg89=)
11g.73977959G>TCA475655735UCP2c.264C>A (p.Arg88=)
c.183C>A (p.Arg61=)
c.267C>A (p.Arg89=)
11g.73977960C>ACA381811743UCP2c.263G>T (p.Arg88Leu)
c.182G>T (p.Arg61Leu)
c.266G>T (p.Arg89Leu)
11g.73977960C=CA1982686255UCP2c.263G= (p.Arg88=)
c.182G= (p.Arg61=)
c.266G= (p.Arg89=)
11g.73977960C>GCA381811744UCP2c.263G>C (p.Arg88Pro)
c.182G>C (p.Arg61Pro)
c.266G>C (p.Arg89Pro)
11g.73977960C>TCA6181197UCP2c.263G>A (p.Arg88His)
c.182G>A (p.Arg61His)
c.266G>A (p.Arg89His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977961G>ACA6181198UCP2c.262C>T (p.Arg88Cys)
c.181C>T (p.Arg61Cys)
c.265C>T (p.Arg89Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977961G>CCA381811745UCP2c.262C>G (p.Arg88Gly)
c.181C>G (p.Arg61Gly)
c.265C>G (p.Arg89Gly)
11g.73977961G=CA1982686256UCP2c.262C= (p.Arg88=)
c.181C= (p.Arg61=)
c.265C= (p.Arg89=)
11g.73977961G>TCA381811746UCP2c.262C>A (p.Arg88Ser)
c.181C>A (p.Arg61Ser)
c.265C>A (p.Arg89Ser)
11g.73977962C>ACA381811747UCP2c.261G>T (p.Gln87His)
c.180G>T (p.Gln60His)
c.264G>T (p.Gln88His)
11g.73977962C>GCA381811748UCP2c.261G>C (p.Gln87His)
c.180G>C (p.Gln60His)
c.264G>C (p.Gln88His)
11g.73977962C>TCA475655739UCP2c.261G>A (p.Gln87=)
c.180G>A (p.Gln60=)
c.264G>A (p.Gln88=)
11g.73977963T>ACA381811749UCP2c.260A>T (p.Gln87Leu)
c.179A>T (p.Gln60Leu)
c.263A>T (p.Gln88Leu)
11g.73977963T>CCA224505689UCP2c.260A>G (p.Gln87Arg)
c.179A>G (p.Gln60Arg)
c.263A>G (p.Gln88Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.73977963T>GCA381811750UCP2c.260A>C (p.Gln87Pro)
c.179A>C (p.Gln60Pro)
c.263A>C (p.Gln88Pro)
 dbSNP gnomAD v4
11g.73977963T=CA1982686257UCP2c.260A= (p.Gln87=)
c.179A= (p.Gln60=)
c.263A= (p.Gln88=)
11g.73977964G>ACA6181199UCP2c.259C>T (p.Gln87Ter)
c.178C>T (p.Gln60Ter)
c.262C>T (p.Gln88Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977964G>CCA381811751UCP2c.259C>G (p.Gln87Glu)
c.178C>G (p.Gln60Glu)
c.262C>G (p.Gln88Glu)
11g.73977964G=CA1982686258UCP2c.259C= (p.Gln87=)
c.178C= (p.Gln60=)
c.262C= (p.Gln88=)
11g.73977964G>TCA381811752UCP2c.259C>A (p.Gln87Lys)
c.178C>A (p.Gln60Lys)
c.262C>A (p.Gln88Lys)
11g.73977965C>ACA475655741UCP2c.258G>T (p.Leu86=)
c.177G>T (p.Leu59=)
c.261G>T (p.Leu87=)
11g.73977965C=CA1982686259UCP2c.258G= (p.Leu86=)
c.177G= (p.Leu59=)
c.261G= (p.Leu87=)
11g.73977965C>GCA475655742UCP2c.258G>C (p.Leu86=)
c.177G>C (p.Leu59=)
c.261G>C (p.Leu87=)
11g.73977965C>TCA475655743UCP2c.258G>A (p.Leu86=)
c.177G>A (p.Leu59=)
c.261G>A (p.Leu87=)
 dbSNP gnomAD v3 gnomAD v4
11g.73977966A>CCA381811753UCP2c.257T>G (p.Leu86Arg)
c.176T>G (p.Leu59Arg)
c.260T>G (p.Leu87Arg)
11g.73977966A>GCA381811754UCP2c.257T>C (p.Leu86Pro)
c.176T>C (p.Leu59Pro)
c.260T>C (p.Leu87Pro)
11g.73977966A>TCA381811755UCP2c.257T>A (p.Leu86Gln)
c.176T>A (p.Leu59Gln)
c.260T>A (p.Leu87Gln)
 gnomAD v4
11g.73977967G>ACA475655744UCP2c.256C>T (p.Leu86=)
c.175C>T (p.Leu59=)
c.259C>T (p.Leu87=)
11g.73977967G>CCA381811757UCP2c.256C>G (p.Leu86Val)
c.175C>G (p.Leu59Val)
c.259C>G (p.Leu87Val)
11g.73977967G>TCA381811756UCP2c.256C>A (p.Leu86Met)
c.175C>A (p.Leu59Met)
c.259C>A (p.Leu87Met)
11g.73977968G>ACA6181200UCP2c.255C>T (p.Gly85=)
c.174C>T (p.Gly58=)
c.258C>T (p.Gly86=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977968G>CCA475655745UCP2c.255C>G (p.Gly85=)
c.174C>G (p.Gly58=)
c.258C>G (p.Gly86=)
11g.73977968G=CA1982686260UCP2c.255C= (p.Gly85=)
c.174C= (p.Gly58=)
c.258C= (p.Gly86=)
11g.73977968G>TCA475655746UCP2c.255C>A (p.Gly85=)
c.174C>A (p.Gly58=)
c.258C>A (p.Gly86=)
11g.73977969C>ACA6181201UCP2c.254G>T (p.Gly85Val)
c.173G>T (p.Gly58Val)
c.257G>T (p.Gly86Val)
 dbSNP ExAC gnomAD v2
11g.73977969C=CA1982686261UCP2c.254G= (p.Gly85=)
c.173G= (p.Gly58=)
c.257G= (p.Gly86=)
11g.73977969C>GCA381811758UCP2c.254G>C (p.Gly85Ala)
c.173G>C (p.Gly58Ala)
c.257G>C (p.Gly86Ala)
11g.73977969C>TCA381811759UCP2c.254G>A (p.Gly85Asp)
c.173G>A (p.Gly58Asp)
c.257G>A (p.Gly86Asp)
 gnomAD v4
11g.73977970C>ACA381811760UCP2c.253G>T (p.Gly85Cys)
c.172G>T (p.Gly58Cys)
c.256G>T (p.Gly86Cys)
11g.73977970C=CA1982686262UCP2c.253G= (p.Gly85=)
c.172G= (p.Gly58=)
c.256G= (p.Gly86=)
11g.73977970C>GCA381811761UCP2c.253G>C (p.Gly85Arg)
c.172G>C (p.Gly58Arg)
c.256G>C (p.Gly86Arg)
11g.73977970C>TCA6181202UCP2c.253G>A (p.Gly85Ser)
c.172G>A (p.Gly58Ser)
c.256G>A (p.Gly86Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977971G>ACA6181204UCP2c.252C>T (p.Ala84=)
c.171C>T (p.Ala57=)
c.255C>T (p.Ala85=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977971G>CCA475655747UCP2c.252C>G (p.Ala84=)
c.171C>G (p.Ala57=)
c.255C>G (p.Ala85=)
11g.73977971G=CA1982686263UCP2c.252C= (p.Ala84=)
c.171C= (p.Ala57=)
c.255C= (p.Ala85=)
11g.73977971G>TCA6181203UCP2c.252C>A (p.Ala84=)
c.171C>A (p.Ala57=)
c.255C>A (p.Ala85=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977972G>ACA381811762UCP2c.251C>T (p.Ala84Val)
c.170C>T (p.Ala57Val)
c.254C>T (p.Ala85Val)
11g.73977972G>CCA381811763UCP2c.251C>G (p.Ala84Gly)
c.170C>G (p.Ala57Gly)
c.254C>G (p.Ala85Gly)
11g.73977972G>TCA381811764UCP2c.251C>A (p.Ala84Asp)
c.170C>A (p.Ala57Asp)
c.254C>A (p.Ala85Asp)
11g.73977973C>ACA381811766UCP2c.250G>T (p.Ala84Ser)
c.169G>T (p.Ala57Ser)
c.253G>T (p.Ala85Ser)
11g.73977973C>GCA381811767UCP2c.250G>C (p.Ala84Pro)
c.169G>C (p.Ala57Pro)
c.253G>C (p.Ala85Pro)
11g.73977973C>TCA381811765UCP2c.250G>A (p.Ala84Thr)
c.169G>A (p.Ala57Thr)
c.253G>A (p.Ala85Thr)
11g.73977974A>CCA475655750UCP2c.249T>G (p.Val83=)
c.168T>G (p.Val56=)
c.252T>G (p.Val84=)
11g.73977974A>GCA475655748UCP2c.249T>C (p.Val83=)
c.168T>C (p.Val56=)
c.252T>C (p.Val84=)
11g.73977974A>TCA475655749UCP2c.249T>A (p.Val83=)
c.168T>A (p.Val56=)
c.252T>A (p.Val84=)
11g.73977975A>CCA381811768UCP2c.248T>G (p.Val83Gly)
c.167T>G (p.Val56Gly)
c.251T>G (p.Val84Gly)
11g.73977975A>GCA381811769UCP2c.248T>C (p.Val83Ala)
c.167T>C (p.Val56Ala)
c.251T>C (p.Val84Ala)
11g.73977975A>TCA381811770UCP2c.248T>A (p.Val83Asp)
c.167T>A (p.Val56Asp)
c.251T>A (p.Val84Asp)
11g.73977975_73977976delinsACCA1982686264UCP2c.247_248delinsGT (p.Val83=)
c.166_167delinsGT (p.Val56=)
c.250_251delinsGT (p.Val84=)
11g.73977976C>ACA381811771UCP2c.247G>T (p.Val83Phe)
c.166G>T (p.Val56Phe)
c.250G>T (p.Val84Phe)
11g.73977976C=CA1982686265UCP2c.247G= (p.Val83=)
c.166G= (p.Val56=)
c.250G= (p.Val84=)
11g.73977976C>GCA381811772UCP2c.247G>C (p.Val83Leu)
c.166G>C (p.Val56Leu)
c.250G>C (p.Val84Leu)
 dbSNP gnomAD v4
11g.73977976C>TCA381811773UCP2c.247G>A (p.Val83Ile)
c.166G>A (p.Val56Ile)
c.250G>A (p.Val84Ile)
 dbSNP
11g.73977977delCA600245083UCP2c.247del (p.Val83LeufsTer8)
c.166del (p.Val56LeufsTer8)
c.250del (p.Val84LeufsTer8)
 dbSNP gnomAD v2 gnomAD v4
11g.73977977C>ACA475655751UCP2c.246G>T (p.Leu82=)
c.165G>T (p.Leu55=)
c.249G>T (p.Leu83=)
11g.73977977C>GCA475655753UCP2c.246G>C (p.Leu82=)
c.165G>C (p.Leu55=)
c.249G>C (p.Leu83=)
11g.73977977C>TCA475655752UCP2c.246G>A (p.Leu82=)
c.165G>A (p.Leu55=)
c.249G>A (p.Leu83=)
11g.73977978A>CCA381811774UCP2c.245T>G (p.Leu82Arg)
c.164T>G (p.Leu55Arg)
c.248T>G (p.Leu83Arg)
11g.73977978A>GCA381811776UCP2c.245T>C (p.Leu82Pro)
c.164T>C (p.Leu55Pro)
c.248T>C (p.Leu83Pro)
11g.73977978A>TCA381811775UCP2c.245T>A (p.Leu82Gln)
c.164T>A (p.Leu55Gln)
c.248T>A (p.Leu83Gln)
11g.73977979G>ACA475655754UCP2c.244C>T (p.Leu82=)
c.163C>T (p.Leu55=)
c.247C>T (p.Leu83=)
11g.73977979G>CCA381811777UCP2c.244C>G (p.Leu82Val)
c.163C>G (p.Leu55Val)
c.247C>G (p.Leu83Val)
11g.73977979G>TCA381811778UCP2c.244C>A (p.Leu82Met)
c.163C>A (p.Leu55Met)
c.247C>A (p.Leu83Met)
11g.73977980C>ACA475655755UCP2c.243G>T (p.Gly81=)
c.162G>T (p.Gly54=)
c.246G>T (p.Gly82=)
 dbSNP gnomAD v4
11g.73977980C=CA1982686266UCP2c.243G= (p.Gly81=)
c.162G= (p.Gly54=)
c.246G= (p.Gly82=)
11g.73977980C>GCA475655756UCP2c.243G>C (p.Gly81=)
c.162G>C (p.Gly54=)
c.246G>C (p.Gly82=)
11g.73977980C>TCA475655757UCP2c.243G>A (p.Gly81=)
c.162G>A (p.Gly54=)
c.246G>A (p.Gly82=)
11g.73977982delCA645594376UCP2c.243del (p.Leu82TrpfsTer9)
c.162del (p.Leu55TrpfsTer9)
c.246del (p.Leu83TrpfsTer9)
 COSMIC
11g.73977981C>ACA381811779UCP2c.242G>T (p.Gly81Val)
c.161G>T (p.Gly54Val)
c.245G>T (p.Gly82Val)
 gnomAD v4
11g.73977981C>GCA381811780UCP2c.242G>C (p.Gly81Ala)
c.161G>C (p.Gly54Ala)
c.245G>C (p.Gly82Ala)
11g.73977981C>TCA381811781UCP2c.242G>A (p.Gly81Glu)
c.161G>A (p.Gly54Glu)
c.245G>A (p.Gly82Glu)
 gnomAD v4
11g.73977982C>ACA381811783UCP2c.241G>T (p.Gly81Trp)
c.160G>T (p.Gly54Trp)
c.244G>T (p.Gly82Trp)
11g.73977982C>GCA381811784UCP2c.241G>C (p.Gly81Arg)
c.160G>C (p.Gly54Arg)
c.244G>C (p.Gly82Arg)
11g.73977982C>TCA381811782UCP2c.241G>A (p.Gly81Arg)
c.160G>A (p.Gly54Arg)
c.244G>A (p.Gly82Arg)
11g.73977983A=CA1982686267UCP2c.240T= (p.Asn80=)
c.159T= (p.Asn53=)
c.243T= (p.Asn81=)
11g.73977983A>CCA381811786UCP2c.240T>G (p.Asn80Lys)
c.159T>G (p.Asn53Lys)
c.243T>G (p.Asn81Lys)
11g.73977983A>GCA6181205UCP2c.240T>C (p.Asn80=)
c.159T>C (p.Asn53=)
c.243T>C (p.Asn81=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977983A>TCA381811785UCP2c.240T>A (p.Asn80Lys)
c.159T>A (p.Asn53Lys)
c.243T>A (p.Asn81Lys)
11g.73977984T>ACA381811787UCP2c.239A>T (p.Asn80Ile)
c.158A>T (p.Asn53Ile)
c.242A>T (p.Asn81Ile)
11g.73977984T>CCA381811788UCP2c.239A>G (p.Asn80Ser)
c.158A>G (p.Asn53Ser)
c.242A>G (p.Asn81Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.73977984T>GCA381811789UCP2c.239A>C (p.Asn80Thr)
c.158A>C (p.Asn53Thr)
c.242A>C (p.Asn81Thr)
11g.73977984T=CA1982686268UCP2c.239A= (p.Asn80=)
c.158A= (p.Asn53=)
c.242A= (p.Asn81=)
11g.73977985T>ACA381811790UCP2c.238A>T (p.Asn80Tyr)
c.157A>T (p.Asn53Tyr)
c.241A>T (p.Asn81Tyr)
11g.73977985T>CCA381811791UCP2c.238A>G (p.Asn80Asp)
c.157A>G (p.Asn53Asp)
c.241A>G (p.Asn81Asp)
 COSMIC
11g.73977985T>GCA381811792UCP2c.238A>C (p.Asn80His)
c.157A>C (p.Asn53His)
c.241A>C (p.Asn81His)
11g.73977986G>ACA475655758UCP2c.237C>T (p.Tyr79=)
c.156C>T (p.Tyr52=)
c.240C>T (p.Tyr80=)
 dbSNP
11g.73977986G>CCA381811793UCP2c.237C>G (p.Tyr79Ter)
c.156C>G (p.Tyr52Ter)
c.240C>G (p.Tyr80Ter)
11g.73977986G=CA1982686269UCP2c.237C= (p.Tyr79=)
c.156C= (p.Tyr52=)
c.240C= (p.Tyr80=)
11g.73977986G>TCA381811794UCP2c.237C>A (p.Tyr79Ter)
c.156C>A (p.Tyr52Ter)
c.240C>A (p.Tyr80Ter)
11g.73977987T>ACA381811795UCP2c.236A>T (p.Tyr79Phe)
c.155A>T (p.Tyr52Phe)
c.239A>T (p.Tyr80Phe)
11g.73977987T>CCA6181206UCP2c.236A>G (p.Tyr79Cys)
c.155A>G (p.Tyr52Cys)
c.239A>G (p.Tyr80Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977987T>GCA381811796UCP2c.236A>C (p.Tyr79Ser)
c.155A>C (p.Tyr52Ser)
c.239A>C (p.Tyr80Ser)
 gnomAD v4
11g.73977987T=CA1982686270UCP2c.236A= (p.Tyr79=)
c.155A= (p.Tyr52=)
c.239A= (p.Tyr80=)
11g.73977988A>CCA381811799UCP2c.235T>G (p.Tyr79Asp)
c.154T>G (p.Tyr52Asp)
c.238T>G (p.Tyr80Asp)
11g.73977988A>GCA381811798UCP2c.235T>C (p.Tyr79His)
c.154T>C (p.Tyr52His)
c.238T>C (p.Tyr80His)
11g.73977988A>TCA381811797UCP2c.235T>A (p.Tyr79Asn)
c.154T>A (p.Tyr52Asn)
c.238T>A (p.Tyr80Asn)
11g.73977989G>ACA475655759UCP2c.234C>T (p.Leu78=)
c.153C>T (p.Leu51=)
c.237C>T (p.Leu79=)
11g.73977989G>CCA475655760UCP2c.234C>G (p.Leu78=)
c.153C>G (p.Leu51=)
c.237C>G (p.Leu79=)
11g.73977989G>TCA475655761UCP2c.234C>A (p.Leu78=)
c.153C>A (p.Leu51=)
c.237C>A (p.Leu79=)
11g.73977990A>CCA381811800UCP2c.233T>G (p.Leu78Arg)
c.152T>G (p.Leu51Arg)
c.236T>G (p.Leu79Arg)
11g.73977990A>GCA381811801UCP2c.233T>C (p.Leu78Pro)
c.152T>C (p.Leu51Pro)
c.236T>C (p.Leu79Pro)
11g.73977990A>TCA381811802UCP2c.233T>A (p.Leu78His)
c.152T>A (p.Leu51His)
c.236T>A (p.Leu79His)
11g.73977991G>ACA6181207UCP2c.232C>T (p.Leu78Phe)
c.151C>T (p.Leu51Phe)
c.235C>T (p.Leu79Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977991G>CCA381811803UCP2c.232C>G (p.Leu78Val)
c.151C>G (p.Leu51Val)
c.235C>G (p.Leu79Val)
 dbSNP
11g.73977991G=CA1982686271UCP2c.232C= (p.Leu78=)
c.151C= (p.Leu51=)
c.235C= (p.Leu79=)
11g.73977991G>TCA381811804UCP2c.232C>A (p.Leu78Ile)
c.151C>A (p.Leu51Ile)
c.235C>A (p.Leu79Ile)
11g.73977992G>ACA475655762UCP2c.231C>T (p.Ser77=)
c.150C>T (p.Ser50=)
c.234C>T (p.Ser78=)
11g.73977992G>CCA381811805UCP2c.231C>G (p.Ser77Arg)
c.150C>G (p.Ser50Arg)
c.234C>G (p.Ser78Arg)
11g.73977992G=CA1982686272UCP2c.231C= (p.Ser77=)
c.150C= (p.Ser50=)
c.234C= (p.Ser78=)
11g.73977992G>TCA381811806UCP2c.231C>A (p.Ser77Arg)
c.150C>A (p.Ser50Arg)
c.234C>A (p.Ser78Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73977993C>ACA381811807UCP2c.230G>T (p.Ser77Ile)
c.149G>T (p.Ser50Ile)
c.233G>T (p.Ser78Ile)
11g.73977993C=CA1982686273UCP2c.230G= (p.Ser77=)
c.149G= (p.Ser50=)
c.233G= (p.Ser78=)
11g.73977993C>GCA381811808UCP2c.230G>C (p.Ser77Thr)
c.149G>C (p.Ser50Thr)
c.233G>C (p.Ser78Thr)
11g.73977993C>TCA6181208UCP2c.230G>A (p.Ser77Asn)
c.149G>A (p.Ser50Asn)
c.233G>A (p.Ser78Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977994T>ACA381811809UCP2c.229A>T (p.Ser77Cys)
c.148A>T (p.Ser50Cys)
c.232A>T (p.Ser78Cys)
11g.73977994T>CCA381811810UCP2c.229A>G (p.Ser77Gly)
c.148A>G (p.Ser50Gly)
c.232A>G (p.Ser78Gly)
11g.73977994T>GCA381811811UCP2c.229A>C (p.Ser77Arg)
c.148A>C (p.Ser50Arg)
c.232A>C (p.Ser78Arg)
11g.73977995T>ACA475655763UCP2c.228A>T (p.Arg76=)
c.147A>T (p.Arg49=)
c.231A>T (p.Arg77=)
11g.73977995T>CCA475655764UCP2c.228A>G (p.Arg76=)
c.147A>G (p.Arg49=)
c.231A>G (p.Arg77=)
11g.73977995T>GCA475655765UCP2c.228A>C (p.Arg76=)
c.147A>C (p.Arg49=)
c.231A>C (p.Arg77=)
11g.73977996C>ACA381811813UCP2c.227G>T (p.Arg76Leu)
c.146G>T (p.Arg49Leu)
c.230G>T (p.Arg77Leu)
11g.73977996C=CA1982686274UCP2c.227G= (p.Arg76=)
c.146G= (p.Arg49=)
c.230G= (p.Arg77=)
11g.73977996C>GCA381811812UCP2c.227G>C (p.Arg76Pro)
c.146G>C (p.Arg49Pro)
c.230G>C (p.Arg77Pro)
11g.73977996C>TCA6181209UCP2c.227G>A (p.Arg76Gln)
c.146G>A (p.Arg49Gln)
c.230G>A (p.Arg77Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977996_73977997delinsCGCA1982686275UCP2c.226_227delinsCG (p.Arg76=)
c.145_146delinsCG (p.Arg49=)
c.229_230delinsCG (p.Arg77=)
11g.73977997G>ACA6181210UCP2c.226C>T (p.Arg76Ter)
c.145C>T (p.Arg49Ter)
c.229C>T (p.Arg77Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977997G>CCA381811814UCP2c.226C>G (p.Arg76Gly)
c.145C>G (p.Arg49Gly)
c.229C>G (p.Arg77Gly)
11g.73977997G=CA1982686276UCP2c.226C= (p.Arg76=)
c.145C= (p.Arg49=)
c.229C= (p.Arg77=)
11g.73977997G>TCA475655766UCP2c.226C>A (p.Arg76=)
c.145C>A (p.Arg49=)
c.229C>A (p.Arg77=)
11g.73978001delCA600245084UCP2c.226del (p.Arg76GlufsTer15)
c.145del (p.Arg49GlufsTer15)
c.229del (p.Arg77GlufsTer15)
 dbSNP gnomAD v2 gnomAD v4
11g.73977998G>ACA475655767UCP2c.225C>T (p.Pro75=)
c.144C>T (p.Pro48=)
c.228C>T (p.Pro76=)
 gnomAD v4
11g.73977998G>CCA475655768UCP2c.225C>G (p.Pro75=)
c.144C>G (p.Pro48=)
c.228C>G (p.Pro76=)
11g.73977998G>TCA475655769UCP2c.225C>A (p.Pro75=)
c.144C>A (p.Pro48=)
c.228C>A (p.Pro76=)
11g.73977999G>ACA381811815UCP2c.224C>T (p.Pro75Leu)
c.143C>T (p.Pro48Leu)
c.227C>T (p.Pro76Leu)
11g.73977999G>CCA381811816UCP2c.224C>G (p.Pro75Arg)
c.143C>G (p.Pro48Arg)
c.227C>G (p.Pro76Arg)
11g.73977999G>TCA381811817UCP2c.224C>A (p.Pro75His)
c.143C>A (p.Pro48His)
c.227C>A (p.Pro76His)
11g.73978000G>ACA6181211UCP2c.223C>T (p.Pro75Ser)
c.142C>T (p.Pro48Ser)
c.226C>T (p.Pro76Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978000G>CCA381811818UCP2c.223C>G (p.Pro75Ala)
c.142C>G (p.Pro48Ala)
c.226C>G (p.Pro76Ala)
11g.73978000G=CA1982686277UCP2c.223C= (p.Pro75=)
c.142C= (p.Pro48=)
c.226C= (p.Pro76=)
11g.73978000G>TCA381811819UCP2c.223C>A (p.Pro75Thr)
c.142C>A (p.Pro48Thr)
c.226C>A (p.Pro76Thr)
11g.73978001G>ACA475655770UCP2c.222C>T (p.Gly74=)
c.141C>T (p.Gly47=)
c.225C>T (p.Gly75=)
 gnomAD v4
11g.73978001G>CCA475655771UCP2c.222C>G (p.Gly74=)
c.141C>G (p.Gly47=)
c.225C>G (p.Gly75=)
 dbSNP gnomAD v2 gnomAD v4
11g.73978001G=CA1982686278UCP2c.222C= (p.Gly74=)
c.141C= (p.Gly47=)
c.225C= (p.Gly75=)
11g.73978001G>TCA475655772UCP2c.222C>A (p.Gly74=)
c.141C>A (p.Gly47=)
c.225C>A (p.Gly75=)
11g.73978002C>ACA381811820UCP2c.221G>T (p.Gly74Val)
c.140G>T (p.Gly47Val)
c.224G>T (p.Gly75Val)
11g.73978002C=CA1982686279UCP2c.221G= (p.Gly74=)
c.140G= (p.Gly47=)
c.224G= (p.Gly75=)
11g.73978002C>GCA381811821UCP2c.221G>C (p.Gly74Ala)
c.140G>C (p.Gly47Ala)
c.224G>C (p.Gly75Ala)
 dbSNP
11g.73978002C>TCA381811822UCP2c.221G>A (p.Gly74Asp)
c.140G>A (p.Gly47Asp)
c.224G>A (p.Gly75Asp)
11g.73978003C>ACA381811823UCP2c.220G>T (p.Gly74Cys)
c.139G>T (p.Gly47Cys)
c.223G>T (p.Gly75Cys)
11g.73978003C=CA1982686280UCP2c.220G= (p.Gly74=)
c.139G= (p.Gly47=)
c.223G= (p.Gly75=)
11g.73978003C>GCA381811824UCP2c.220G>C (p.Gly74Arg)
c.139G>C (p.Gly47Arg)
c.223G>C (p.Gly75Arg)
 dbSNP
11g.73978003C>TCA381811825UCP2c.220G>A (p.Gly74Ser)
c.139G>A (p.Gly47Ser)
c.223G>A (p.Gly75Ser)
11g.73978004C>ACA381811826UCP2c.219G>T (p.Glu73Asp)
c.138G>T (p.Glu46Asp)
c.222G>T (p.Glu74Asp)
11g.73978004C>GCA381811827UCP2c.219G>C (p.Glu73Asp)
c.138G>C (p.Glu46Asp)
c.222G>C (p.Glu74Asp)
11g.73978004C>TCA475655773UCP2c.219G>A (p.Glu73=)
c.138G>A (p.Glu46=)
c.222G>A (p.Glu74=)
 gnomAD v4
11g.73978005T>ACA381811828UCP2c.218A>T (p.Glu73Val)
c.137A>T (p.Glu46Val)
c.221A>T (p.Glu74Val)
11g.73978005T>CCA381811829UCP2c.218A>G (p.Glu73Gly)
c.137A>G (p.Glu46Gly)
c.221A>G (p.Glu74Gly)
11g.73978005T>GCA381811830UCP2c.218A>C (p.Glu73Ala)
c.137A>C (p.Glu46Ala)
c.221A>C (p.Glu74Ala)
11g.73978006C>ACA381811831UCP2c.217G>T (p.Glu73Ter)
c.136G>T (p.Glu46Ter)
c.220G>T (p.Glu74Ter)
11g.73978006C=CA1982686281UCP2c.217G= (p.Glu73=)
c.136G= (p.Glu46=)
c.220G= (p.Glu74=)
11g.73978006C>GCA224505713UCP2c.217G>C (p.Glu73Gln)
c.136G>C (p.Glu46Gln)
c.220G>C (p.Glu74Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978006C>TCA6181212UCP2c.217G>A (p.Glu73Lys)
c.136G>A (p.Glu46Lys)
c.220G>A (p.Glu74Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched