Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.238273067T>CCA1338047089PER2c.570+3A>G (n.570+3A>G)
dbSNP
2g.238273067T=CA1338047088PER2c.570+3A= (n.570+3A=)
2g.238273068A>CCA351263991PER2c.570+2T>G (n.570+2T>G)
2g.238273068A>GCA351263992PER2c.570+2T>C (n.570+2T>C)
2g.238273068A>TCA351263993PER2c.570+2T>A (n.570+2T>A)
2g.238273069C>ACA351263994PER2c.570+1G>T (n.570+1G>T)
2g.238273069C=CA1338047090PER2c.570+1G= (n.570+1G=)
2g.238273069C>GCA351263995PER2c.570+1G>C (n.570+1G>C)
2g.238273069C>TCA67985481PER2c.570+1G>A (n.570+1G>A)
dbSNP gnomAD v4
2g.238273070G>ACA2197740PER2c.570C>T (p.Ala190=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273070G>CCA431996295PER2c.570C>G (p.Ala190=)
2g.238273070G=CA1338047091PER2c.570C= (p.Ala190=)
2g.238273070G>TCA431996294PER2c.570C>A (p.Ala190=)
gnomAD v4
2g.238273071G>ACA351263996PER2c.569C>T (p.Ala190Val)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.238273071G>CCA351263997PER2c.569C>G (p.Ala190Gly)
2g.238273071G=CA1338047092PER2c.569C= (p.Ala190=)
2g.238273071G>TCA351263998PER2c.569C>A (p.Ala190Asp)
2g.238273072C>ACA351264000PER2c.568G>T (p.Ala190Ser)
2g.238273072C=CA1338047093PER2c.568G= (p.Ala190=)
2g.238273072C>GCA351263999PER2c.568G>C (p.Ala190Pro)
gnomAD v4
2g.238273072C>TCA2197741PER2c.568G>A (p.Ala190Thr)
dbSNP ExAC gnomAD v2
2g.238273073A>CCA351264001PER2c.567T>G (p.Asn189Lys)
2g.238273073A>GCA431996296PER2c.567T>C (p.Asn189=)
2g.238273073A>TCA351264002PER2c.567T>A (p.Asn189Lys)
2g.238273074T>ACA351264003PER2c.566A>T (p.Asn189Ile)
2g.238273074T>CCA351264004PER2c.566A>G (p.Asn189Ser)
2g.238273074T>GCA351264005PER2c.566A>C (p.Asn189Thr)
dbSNP gnomAD v2 gnomAD v4
2g.238273074T=CA1338047094PER2c.566A= (p.Asn189=)
2g.238273075T>ACA351264006PER2c.565A>T (p.Asn189Tyr)
2g.238273075T>CCA2197742PER2c.565A>G (p.Asn189Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273075T>GCA351264007PER2c.565A>C (p.Asn189His)
2g.238273075T=CA1338047095PER2c.565A= (p.Asn189=)
2g.238273076C>ACA351264009PER2c.564G>T (p.Lys188Asn)
2g.238273076C>GCA351264008PER2c.564G>C (p.Lys188Asn)
gnomAD v4
2g.238273076C>TCA431996297PER2c.564G>A (p.Lys188=)
COSMIC
2g.238273077T>ACA351264010PER2c.563A>T (p.Lys188Met)
2g.238273077T>CCA351264011PER2c.563A>G (p.Lys188Arg)
2g.238273077T>GCA351264012PER2c.563A>C (p.Lys188Thr)
2g.238273078T>ACA351264013PER2c.562A>T (p.Lys188Ter)
2g.238273078T>CCA351264014PER2c.562A>G (p.Lys188Glu)
2g.238273078T>GCA351264015PER2c.562A>C (p.Lys188Gln)
2g.238273079C>ACA431996299PER2c.561G>T (p.Val187=)
2g.238273079C=CA1338047096PER2c.561G= (p.Val187=)
2g.238273079C>GCA431996298PER2c.561G>C (p.Val187=)
2g.238273079C>TCA431996300PER2c.561G>A (p.Val187=)
dbSNP gnomAD v2 gnomAD v4
2g.238273080A>CCA351264018PER2c.560T>G (p.Val187Gly)
2g.238273080A>GCA351264016PER2c.560T>C (p.Val187Ala)
2g.238273080A>TCA351264017PER2c.560T>A (p.Val187Glu)
2g.238273081C>ACA351264019PER2c.559G>T (p.Val187Leu)
gnomAD v4
2g.238273081C>GCA351264020PER2c.559G>C (p.Val187Leu)
2g.238273081C>TCA351264021PER2c.559G>A (p.Val187Met)
2g.238273082A=CA1338047097PER2c.558T= (p.Ile186=)
2g.238273082A>CCA2197743PER2c.558T>G (p.Ile186Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273082A>GCA431996301PER2c.558T>C (p.Ile186=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273082A>TCA431996302PER2c.558T>A (p.Ile186=)
2g.238273083A=CA1338047098PER2c.557T= (p.Ile186=)
2g.238273083A>CCA351264022PER2c.557T>G (p.Ile186Ser)
2g.238273083A>GCA351264023PER2c.557T>C (p.Ile186Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273083A>TCA351264024PER2c.557T>A (p.Ile186Asn)
2g.238273084T>ACA351264025PER2c.556A>T (p.Ile186Phe)
2g.238273084T>CCA351264026PER2c.556A>G (p.Ile186Val)
dbSNP gnomAD v2 gnomAD v4
2g.238273084T>GCA351264027PER2c.556A>C (p.Ile186Leu)
2g.238273084T=CA1338047099PER2c.556A= (p.Ile186=)
2g.238273085G>ACA431996303PER2c.555C>T (p.His185=)
2g.238273085G>CCA351264028PER2c.555C>G (p.His185Gln)
2g.238273085G>TCA351264029PER2c.555C>A (p.His185Gln)
2g.238273086T>ACA351264030PER2c.554A>T (p.His185Leu)
2g.238273086T>CCA351264032PER2c.554A>G (p.His185Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273086T>GCA351264031PER2c.554A>C (p.His185Pro)
2g.238273086T=CA1338047100PER2c.554A= (p.His185=)
2g.238273087G>ACA351264033PER2c.553C>T (p.His185Tyr)
2g.238273087G>CCA351264034PER2c.553C>G (p.His185Asp)
2g.238273087G>TCA351264035PER2c.553C>A (p.His185Asn)
2g.238273088C>ACA351264037PER2c.552G>T (p.Glu184Asp)
2g.238273088C>GCA351264039PER2c.552G>C (p.Glu184Asp)
2g.238273088C>TCA431996304PER2c.552G>A (p.Glu184=)
2g.238273089T>ACA351264041PER2c.551A>T (p.Glu184Val)
2g.238273089T>CCA351264043PER2c.551A>G (p.Glu184Gly)
2g.238273089T>GCA2197744PER2c.551A>C (p.Glu184Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273089T=CA1338047101PER2c.551A= (p.Glu184=)
2g.238273090C>ACA351264045PER2c.550G>T (p.Glu184Ter)
2g.238273090C>GCA351264047PER2c.550G>C (p.Glu184Gln)
2g.238273090C>TCA351264049PER2c.550G>A (p.Glu184Lys)
2g.238273091A=CA1338047102PER2c.549T= (p.Ser183=)
2g.238273091A>CCA431996307PER2c.549T>G (p.Ser183=)
2g.238273091A>GCA431996305PER2c.549T>C (p.Ser183=)
dbSNP gnomAD v3 gnomAD v4
2g.238273091A>TCA431996306PER2c.549T>A (p.Ser183=)
2g.238273092G>ACA351264057PER2c.548C>T (p.Ser183Phe)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.238273092G>CCA67985510PER2c.548C>G (p.Ser183Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273092G=CA1338047103PER2c.548C= (p.Ser183=)
2g.238273092G>TCA351264052PER2c.548C>A (p.Ser183Tyr)
2g.238273093A>CCA351264059PER2c.547T>G (p.Ser183Ala)
2g.238273093A>GCA351264061PER2c.547T>C (p.Ser183Pro)
2g.238273093A>TCA351264063PER2c.547T>A (p.Ser183Thr)
2g.238273094G>ACA431996310PER2c.546C>T (p.Thr182=)
dbSNP gnomAD v4
2g.238273094G>CCA431996308PER2c.546C>G (p.Thr182=)
2g.238273094G=CA1338047104PER2c.546C= (p.Thr182=)
2g.238273094G>TCA431996309PER2c.546C>A (p.Thr182=)
2g.238273095G>ACA351264066PER2c.545C>T (p.Thr182Ile)
2g.238273095G>CCA351264068PER2c.545C>G (p.Thr182Ser)
gnomAD v4
2g.238273095G>TCA351264069PER2c.545C>A (p.Thr182Asn)
2g.238273096T>ACA351264072PER2c.544A>T (p.Thr182Ser)
2g.238273096T>CCA351264074PER2c.544A>G (p.Thr182Ala)
2g.238273096T>GCA351264075PER2c.544A>C (p.Thr182Pro)
2g.238273097A=CA1338047105PER2c.543T= (p.Val181=)
2g.238273097A>CCA431996313PER2c.543T>G (p.Val181=)
2g.238273097A>GCA431996311PER2c.543T>C (p.Val181=)
dbSNP gnomAD v3 gnomAD v4
2g.238273097A>TCA431996312PER2c.543T>A (p.Val181=)
2g.238273098A>CCA351264079PER2c.542T>G (p.Val181Gly)
2g.238273098A>GCA351264081PER2c.542T>C (p.Val181Ala)
2g.238273098A>TCA351264083PER2c.542T>A (p.Val181Asp)
COSMIC
2g.238273099C>ACA351264087PER2c.541G>T (p.Val181Phe)
2g.238273099C=CA1338047106PER2c.541G= (p.Val181=)
2g.238273099C>GCA351264089PER2c.541G>C (p.Val181Leu)
gnomAD v4
2g.238273099C>TCA2197745PER2c.541G>A (p.Val181Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273100G>ACA2197746PER2c.540C>T (p.Ser180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273100G>CCA351264096PER2c.540C>G (p.Ser180Arg)
dbSNP
2g.238273100G=CA1338047107PER2c.540C= (p.Ser180=)
2g.238273100G>TCA351264098PER2c.540C>A (p.Ser180Arg)
2g.238273101C>ACA351264103PER2c.539G>T (p.Ser180Ile)
2g.238273101C=CA1338047108PER2c.539G= (p.Ser180=)
2g.238273101C>GCA351264105PER2c.539G>C (p.Ser180Thr)
gnomAD v4
2g.238273101C>TCA67985514PER2c.539G>A (p.Ser180Asn)
dbSNP gnomAD v3 gnomAD v4
2g.238273102T>ACA351264109PER2c.538A>T (p.Ser180Cys)
2g.238273102T>CCA2197747PER2c.538A>G (p.Ser180Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273102T>GCA351264111PER2c.538A>C (p.Ser180Arg)
2g.238273102T=CA1338047109PER2c.538A= (p.Ser180=)
2g.238273103C>ACA351264114PER2c.537G>T (p.Glu179Asp)
2g.238273103C>GCA351264116PER2c.537G>C (p.Glu179Asp)
2g.238273103C>TCA431996314PER2c.537G>A (p.Glu179=)
gnomAD v4
2g.238273104T>ACA351264119PER2c.536A>T (p.Glu179Val)
2g.238273104T>CCA351264121PER2c.536A>G (p.Glu179Gly)
2g.238273104T>GCA351264123PER2c.536A>C (p.Glu179Ala)
2g.238273105C>ACA351264126PER2c.535G>T (p.Glu179Ter)
2g.238273105C=CA1338047110PER2c.535G= (p.Glu179=)
2g.238273105C>GCA351264129PER2c.535G>C (p.Glu179Gln)
2g.238273105C>TCA351264127PER2c.535G>A (p.Glu179Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.238273106C>ACA351264132PER2c.534G>T (p.Met178Ile)
dbSNP
2g.238273106C=CA1338047111PER2c.534G= (p.Met178=)
2g.238273106C>GCA351264134PER2c.534G>C (p.Met178Ile)
2g.238273106C>TCA351264136PER2c.534G>A (p.Met178Ile)
dbSNP gnomAD v3 gnomAD v4
2g.238273107A>CCA351264140PER2c.533T>G (p.Met178Arg)
2g.238273107A>GCA351264142PER2c.533T>C (p.Met178Thr)
2g.238273107A>TCA351264144PER2c.533T>A (p.Met178Lys)
2g.238273108T>ACA351264146PER2c.532A>T (p.Met178Leu)
2g.238273108T>CCA2197748PER2c.532A>G (p.Met178Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273108T>GCA351264148PER2c.532A>C (p.Met178Leu)
2g.238273108T=CA1338047112PER2c.532A= (p.Met178=)
2g.238273108_238273111delinsTCTCCA1338047113PER2c.529_532delinsGAGA (p.Glu177=)
2g.238273109C>ACA351264150PER2c.531G>T (p.Glu177Asp)
dbSNP gnomAD v2 gnomAD v4
2g.238273109C=CA1338047115PER2c.531G= (p.Glu177=)
2g.238273109C>GCA351264152PER2c.531G>C (p.Glu177Asp)
2g.238273109C>TCA431996315PER2c.531G>A (p.Glu177=)
dbSNP gnomAD v2 gnomAD v4
2g.238273113_238273115delCA1338047114PER2c.529_531del (p.Glu177del)
dbSNP
2g.238273110T>ACA351264158PER2c.530A>T (p.Glu177Val)
2g.238273110T>CCA351264160PER2c.530A>G (p.Glu177Gly)
gnomAD v4
2g.238273110T>GCA351264156PER2c.530A>C (p.Glu177Ala)
2g.238273111C>ACA351264162PER2c.529G>T (p.Glu177Ter)
2g.238273111C=CA1338047116PER2c.529G= (p.Glu177=)
2g.238273111C>GCA351264163PER2c.529G>C (p.Glu177Gln)
2g.238273111C>TCA351264165PER2c.529G>A (p.Glu177Lys)
dbSNP gnomAD v2 gnomAD v4
2g.238273112C>ACA351264166PER2c.528G>T (p.Glu176Asp)
2g.238273112C=CA1338047117PER2c.528G= (p.Glu176=)
2g.238273112C>GCA351264168PER2c.528G>C (p.Glu176Asp)
2g.238273112C>TCA2197749PER2c.528G>A (p.Glu176=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273113T>ACA351264173PER2c.527A>T (p.Glu176Val)
2g.238273113T>CCA351264174PER2c.527A>G (p.Glu176Gly)
2g.238273113T>GCA351264175PER2c.527A>C (p.Glu176Ala)
2g.238273114C>ACA351264177PER2c.526G>T (p.Glu176Ter)
2g.238273114C>GCA351264179PER2c.526G>C (p.Glu176Gln)
2g.238273114C>TCA351264181PER2c.526G>A (p.Glu176Lys)
2g.238273115C>ACA431996317PER2c.525G>T (p.Val175=)
2g.238273115C>GCA431996316PER2c.525G>C (p.Val175=)
2g.238273115C>TCA431996318PER2c.525G>A (p.Val175=)
2g.238273115_238273116insTACCA2663886992PER2c.525_526insTAG
gnomAD v4
2g.238273116A>CCA351264184PER2c.524T>G (p.Val175Gly)
2g.238273116A>GCA351264186PER2c.524T>C (p.Val175Ala)
2g.238273116A>TCA351264183PER2c.524T>A (p.Val175Glu)
2g.238273117C>ACA351264188PER2c.523G>T (p.Val175Leu)
2g.238273117C=CA1338047118PER2c.523G= (p.Val175=)
2g.238273117C>GCA351264190PER2c.523G>C (p.Val175Leu)
2g.238273117C>TCA2197750PER2c.523G>A (p.Val175Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273118G>ACA2197751PER2c.522C>T (p.Thr174=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273118G>CCA431996319PER2c.522C>G (p.Thr174=)
gnomAD v4
2g.238273118G=CA1338047119PER2c.522C= (p.Thr174=)
2g.238273118G>TCA431996320PER2c.522C>A (p.Thr174=)
2g.238273119G>ACA351264192PER2c.521C>T (p.Thr174Ile)
gnomAD v3 gnomAD v4
2g.238273119G>CCA351264194PER2c.521C>G (p.Thr174Ser)
2g.238273119G>TCA351264196PER2c.521C>A (p.Thr174Asn)
gnomAD v4
2g.238273120T>ACA351264199PER2c.520A>T (p.Thr174Ser)
gnomAD v4
2g.238273120T>CCA351264203PER2c.520A>G (p.Thr174Ala)
dbSNP gnomAD v2 gnomAD v4
2g.238273120T>GCA351264201PER2c.520A>C (p.Thr174Pro)
2g.238273120T=CA1338047120PER2c.520A= (p.Thr174=)
2g.238273121G>ACA431996321PER2c.519C>T (p.Tyr173=)
dbSNP gnomAD v3 gnomAD v4
2g.238273121G>CCA351264204PER2c.519C>G (p.Tyr173Ter)
gnomAD v3 gnomAD v4
2g.238273121G=CA1338047121PER2c.519C= (p.Tyr173=)
2g.238273121G>TCA351264205PER2c.519C>A (p.Tyr173Ter)
2g.238273122T>ACA351264206PER2c.518A>T (p.Tyr173Phe)
2g.238273122T>CCA351264207PER2c.518A>G (p.Tyr173Cys)
gnomAD v4
2g.238273122T>GCA351264208PER2c.518A>C (p.Tyr173Ser)
gnomAD v4
2g.238273123A>CCA351264212PER2c.517T>G (p.Tyr173Asp)
2g.238273123A>GCA351264214PER2c.517T>C (p.Tyr173His)
2g.238273123A>TCA351264210PER2c.517T>A (p.Tyr173Asn)
2g.238273123_238273124dupCA2663887015PER2c.516_517dup (p.Tyr173SerfsTer16)
gnomAD v4
2g.238273124G>ACA67985558PER2c.516C>T (p.Ser172=)
dbSNP gnomAD v4
2g.238273124G>CCA431996323PER2c.516C>G (p.Ser172=)
2g.238273124G=CA1338047122PER2c.516C= (p.Ser172=)
2g.238273124G>TCA431996322PER2c.516C>A (p.Ser172=)
2g.238273125G>ACA351264216PER2c.515C>T (p.Ser172Phe)
dbSNP
2g.238273125G>CCA351264215PER2c.515C>G (p.Ser172Cys)
gnomAD v4
2g.238273125G=CA1338047123PER2c.515C= (p.Ser172=)
2g.238273125G>TCA351264217PER2c.515C>A (p.Ser172Tyr)
dbSNP gnomAD v2 gnomAD v4
2g.238273126A=CA1338047124PER2c.514T= (p.Ser172=)
2g.238273126A>CCA351264219PER2c.514T>G (p.Ser172Ala)
2g.238273126A>GCA351264223PER2c.514T>C (p.Ser172Pro)
dbSNP gnomAD v2 gnomAD v4
2g.238273126A>TCA351264221PER2c.514T>A (p.Ser172Thr)
2g.238273127G>ACA431996324PER2c.513C>T (p.Pro171=)
2g.238273127G>CCA431996325PER2c.513C>G (p.Pro171=)
2g.238273127G>TCA431996326PER2c.513C>A (p.Pro171=)
2g.238273128G>ACA351264226PER2c.512C>T (p.Pro171Leu)
gnomAD v4
2g.238273128G>CCA351264230PER2c.512C>G (p.Pro171Arg)
dbSNP gnomAD v3 gnomAD v4
2g.238273128G=CA1338047125PER2c.512C= (p.Pro171=)
2g.238273128G>TCA351264228PER2c.512C>A (p.Pro171His)
2g.238273129G>ACA2197752PER2c.511C>T (p.Pro171Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273129G>CCA351264238PER2c.511C>G (p.Pro171Ala)
2g.238273129G=CA1338047126PER2c.511C= (p.Pro171=)
2g.238273129G>TCA351264235PER2c.511C>A (p.Pro171Thr)
2g.238273130C>ACA431996327PER2c.510G>T (p.Val170=)
2g.238273130C=CA1338047127PER2c.510G= (p.Val170=)
2g.238273130C>GCA431996328PER2c.510G>C (p.Val170=)
2g.238273130C>TCA2197753PER2c.510G>A (p.Val170=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273131_238273132dupCA540496411PER2c.509_510dup (p.Pro171CysfsTer18)
dbSNP gnomAD v2 gnomAD v4
2g.238273131A>CCA351264243PER2c.509T>G (p.Val170Gly)
2g.238273131A>GCA351264245PER2c.509T>C (p.Val170Ala)
2g.238273131A>TCA351264247PER2c.509T>A (p.Val170Glu)
2g.238273132C>ACA351264249PER2c.508G>T (p.Val170Leu)
2g.238273132C=CA1338047128PER2c.508G= (p.Val170=)
2g.238273132C>GCA351264251PER2c.508G>C (p.Val170Leu)
dbSNP gnomAD v2 gnomAD v4
2g.238273132C>TCA2197754PER2c.508G>A (p.Val170Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273133G>ACA2197755PER2c.507C>T (p.Asp169=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273133G>CCA351264259PER2c.507C>G (p.Asp169Glu)
2g.238273133G=CA1338047129PER2c.507C= (p.Asp169=)
2g.238273133G>TCA351264261PER2c.507C>A (p.Asp169Glu)
2g.238273134T>ACA351264266PER2c.506A>T (p.Asp169Val)
2g.238273134T>CCA351264268PER2c.506A>G (p.Asp169Gly)
2g.238273134T>GCA351264272PER2c.506A>C (p.Asp169Ala)
2g.238273135C>ACA351264276PER2c.505G>T (p.Asp169Tyr)
2g.238273135C>GCA351264283PER2c.505G>C (p.Asp169His)
COSMIC
2g.238273135C>TCA351264278PER2c.505G>A (p.Asp169Asn)
2g.238273136T>ACA431996329PER2c.504A>T (p.Ala168=)
2g.238273136T>CCA431996330PER2c.504A>G (p.Ala168=)
2g.238273136T>GCA431996331PER2c.504A>C (p.Ala168=)
2g.238273137G>ACA351264286PER2c.503C>T (p.Ala168Val)
dbSNP gnomAD v4
2g.238273137G>CCA351264288PER2c.503C>G (p.Ala168Gly)
2g.238273137G=CA1338047130PER2c.503C= (p.Ala168=)
2g.238273137G>TCA351264291PER2c.503C>A (p.Ala168Glu)
2g.238273138C>ACA351264292PER2c.502G>T (p.Ala168Ser)
2g.238273138C=CA1338047131PER2c.502G= (p.Ala168=)
2g.238273138C>GCA351264293PER2c.502G>C (p.Ala168Pro)
2g.238273138C>TCA351264294PER2c.502G>A (p.Ala168Thr)
dbSNP
2g.238273139T>ACA431996332PER2c.501A>T (p.Gly167=)
2g.238273139T>CCA431996333PER2c.501A>G (p.Gly167=)
dbSNP gnomAD v3 gnomAD v4
2g.238273139T>GCA431996334PER2c.501A>C (p.Gly167=)
2g.238273139T=CA1338047132PER2c.501A= (p.Gly167=)
2g.238273140C>ACA351264296PER2c.500G>T (p.Gly167Val)
gnomAD v4
2g.238273140C>GCA351264298PER2c.500G>C (p.Gly167Ala)
gnomAD v4
2g.238273140C>TCA351264300PER2c.500G>A (p.Gly167Glu)
gnomAD v4
2g.238273141C>ACA351264310PER2c.499G>T (p.Gly167Ter)
2g.238273141C>GCA351264307PER2c.499G>C (p.Gly167Arg)
2g.238273141C>TCA351264304PER2c.499G>A (p.Gly167Arg)
2g.238273142A>CCA351264315PER2c.498T>G (p.Cys166Trp)
2g.238273142A>GCA431996335PER2c.498T>C (p.Cys166=)
gnomAD v4
2g.238273142A>TCA351264317PER2c.498T>A (p.Cys166Ter)
2g.238273143C>ACA351264322PER2c.497G>T (p.Cys166Phe)
2g.238273143C>GCA351264324PER2c.497G>C (p.Cys166Ser)
2g.238273143C>TCA351264326PER2c.497G>A (p.Cys166Tyr)
2g.238273143_238273144delinsCACA1338047133PER2c.496_497delinsTG (p.Cys166=)
2g.238273144delCA916809139PER2c.496del (p.Cys166ValfsTer22)
dbSNP
2g.238273144A=CA1338047134PER2c.496T= (p.Cys166=)
2g.238273144A>CCA351264332PER2c.496T>G (p.Cys166Gly)
2g.238273144A>GCA2197756PER2c.496T>C (p.Cys166Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273144A>TCA351264338PER2c.496T>A (p.Cys166Ser)
2g.238273145G>ACA431996336PER2c.495C>T (p.Pro165=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273145G>CCA431996337PER2c.495C>G (p.Pro165=)
2g.238273145G=CA1338047135PER2c.495C= (p.Pro165=)
2g.238273145G>TCA431996338PER2c.495C>A (p.Pro165=)
dbSNP gnomAD v2 gnomAD v4
2g.238273146G>ACA351264341PER2c.494C>T (p.Pro165Leu)
2g.238273146G>CCA351264344PER2c.494C>G (p.Pro165Arg)
2g.238273146G>TCA351264346PER2c.494C>A (p.Pro165His)
2g.238273147G>ACA351264354PER2c.493C>T (p.Pro165Ser)
2g.238273147G>CCA351264352PER2c.493C>G (p.Pro165Ala)
2g.238273147G>TCA351264351PER2c.493C>A (p.Pro165Thr)
2g.238273148G>ACA2197758PER2c.492C>T (p.His164=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273148G>CCA351264359PER2c.492C>G (p.His164Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273148G=CA1338047136PER2c.492C= (p.His164=)
2g.238273148G>TCA2197757PER2c.492C>A (p.His164Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273149T>ACA351264363PER2c.491A>T (p.His164Leu)
2g.238273149T>CCA351264366PER2c.491A>G (p.His164Arg)
2g.238273149T>GCA351264369PER2c.491A>C (p.His164Pro)
2g.238273150G>ACA351264373PER2c.490C>T (p.His164Tyr)
2g.238273150G>CCA351264377PER2c.490C>G (p.His164Asp)
2g.238273150G>TCA351264378PER2c.490C>A (p.His164Asn)
2g.238273151A>CCA431996339PER2c.489T>G (p.Gly163=)
2g.238273151A>GCA431996340PER2c.489T>C (p.Gly163=)
2g.238273151A>TCA431996341PER2c.489T>A (p.Gly163=)
2g.238273152C>ACA351264382PER2c.488G>T (p.Gly163Val)
gnomAD v4
2g.238273152C=CA1338047137PER2c.488G= (p.Gly163=)
2g.238273152C>GCA351264385PER2c.488G>C (p.Gly163Ala)
2g.238273152C>TCA351264387PER2c.488G>A (p.Gly163Asp)
dbSNP gnomAD v3 gnomAD v4
2g.238273153C>ACA351264393PER2c.487G>T (p.Gly163Cys)
2g.238273153C>GCA351264391PER2c.487G>C (p.Gly163Arg)
2g.238273153C>TCA351264390PER2c.487G>A (p.Gly163Ser)
COSMIC
2g.238273154C>ACA351264395PER2c.486G>T (p.Glu162Asp)
2g.238273154C=CA1338047138PER2c.486G= (p.Glu162=)
2g.238273154C>GCA351264396PER2c.486G>C (p.Glu162Asp)
dbSNP
2g.238273154C>TCA431996342PER2c.486G>A (p.Glu162=)
gnomAD v4
2g.238273155T>ACA351264398PER2c.485A>T (p.Glu162Val)
2g.238273155T>CCA351264400PER2c.485A>G (p.Glu162Gly)
2g.238273155T>GCA351264401PER2c.485A>C (p.Glu162Ala)
2g.238273156C>ACA351264404PER2c.484G>T (p.Glu162Ter)
2g.238273156C=CA1338047139PER2c.484G= (p.Glu162=)
2g.238273156C>GCA351264405PER2c.484G>C (p.Glu162Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238273156C>TCA2197759PER2c.484G>A (p.Glu162Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238273157G>ACA2197760PER2c.483C>T (p.Ser161=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273157G>CCA351264409PER2c.483C>G (p.Ser161Arg)
2g.238273157G=CA1338047140PER2c.483C= (p.Ser161=)
2g.238273157G>TCA351264410PER2c.483C>A (p.Ser161Arg)
2g.238273158C>ACA351264412PER2c.482G>T (p.Ser161Ile)
2g.238273158C>GCA351264414PER2c.482G>C (p.Ser161Thr)
2g.238273158C>TCA351264415PER2c.482G>A (p.Ser161Asn)
2g.238273159T>ACA67985626PER2c.481A>T (p.Ser161Cys)
dbSNP
2g.238273159T>CCA351264418PER2c.481A>G (p.Ser161Gly)
2g.238273159T>GCA351264416PER2c.481A>C (p.Ser161Arg)
2g.238273159T=CA1338047141PER2c.481A= (p.Ser161=)
2g.238273160G>ACA431996345PER2c.480C>T (p.Ser160=)
2g.238273160G>CCA431996343PER2c.480C>G (p.Ser160=)
2g.238273160G>TCA431996344PER2c.480C>A (p.Ser160=)
2g.238273161G>ACA351264420PER2c.479C>T (p.Ser160Phe)
dbSNP gnomAD v3 gnomAD v4
2g.238273161G>CCA351264421PER2c.479C>G (p.Ser160Cys)
2g.238273161G=CA1338047142PER2c.479C= (p.Ser160=)
2g.238273161G>TCA351264423PER2c.479C>A (p.Ser160Tyr)
2g.238273162A>CCA351264425PER2c.478T>G (p.Ser160Ala)
2g.238273162A>GCA351264426PER2c.478T>C (p.Ser160Pro)
2g.238273162A>TCA351264428PER2c.478T>A (p.Ser160Thr)
2g.238273163C>ACA351264431PER2c.477G>T (p.Met159Ile)
gnomAD v4
2g.238273163C=CA1338047143PER2c.477G= (p.Met159=)
2g.238273163C>GCA351264432PER2c.477G>C (p.Met159Ile)
2g.238273163C>TCA2197761PER2c.477G>A (p.Met159Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238273164A=CA1338047144PER2c.476T= (p.Met159=)
2g.238273164A>CCA351264435PER2c.476T>G (p.Met159Arg)
dbSNP
2g.238273164A>GCA351264437PER2c.476T>C (p.Met159Thr)
2g.238273164A>TCA351264438PER2c.476T>A (p.Met159Lys)
2g.238273165T>ACA351264443PER2c.475A>T (p.Met159Leu)
dbSNP gnomAD v2 gnomAD v4
2g.238273165T>CCA351264442PER2c.475A>G (p.Met159Val)
2g.238273165T>GCA351264440PER2c.475A>C (p.Met159Leu)
2g.238273165T=CA1338047145PER2c.475A= (p.Met159=)

Number of alleles fetched