Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055676A=CA2054259722KERAc.606T= (p.Asn202=)
12g.91055676A>CCA386013737KERAc.606T>G (p.Asn202Lys)
12g.91055676A>GCA481306655KERAc.606T>C (p.Asn202=)
dbSNP gnomAD v2 gnomAD v4
12g.91055676A>TCA386013738KERAc.606T>A (p.Asn202Lys)
12g.91055677T>ACA386013741KERAc.605A>T (p.Asn202Ile)
12g.91055677T>CCA386013740KERAc.605A>G (p.Asn202Ser)
dbSNP gnomAD v4
12g.91055677T>GCA386013739KERAc.605A>C (p.Asn202Thr)
12g.91055678T>ACA386013742KERAc.604A>T (p.Asn202Tyr)
12g.91055678T>CCA386013743KERAc.604A>G (p.Asn202Asp)
12g.91055678T>GCA386013744KERAc.604A>C (p.Asn202His)
12g.91055679C>ACA386013745KERAc.603G>T (p.Lys201Asn)
12g.91055679C>GCA386013746KERAc.603G>C (p.Lys201Asn)
12g.91055679C>TCA481306666KERAc.603G>A (p.Lys201=)
12g.91055680T>ACA386013747KERAc.602A>T (p.Lys201Met)
12g.91055680T>CCA386013748KERAc.602A>G (p.Lys201Arg)
12g.91055680T>GCA386013749KERAc.602A>C (p.Lys201Thr)
12g.91055681T>ACA386013750KERAc.601A>T (p.Lys201Ter)
12g.91055681T>CCA386013751KERAc.601A>G (p.Lys201Glu)
12g.91055681T>GCA386013752KERAc.601A>C (p.Lys201Gln)
12g.91055682G>ACA481306678KERAc.600C>T (p.Ala200=)
dbSNP gnomAD v2 gnomAD v4
12g.91055682G>CCA481306683KERAc.600C>G (p.Ala200=)
12g.91055682G=CA2054259723KERAc.600C= (p.Ala200=)
12g.91055682G>TCA481306680KERAc.600C>A (p.Ala200=)
12g.91055683G>ACA386013753KERAc.599C>T (p.Ala200Val)
gnomAD v4
12g.91055683G>CCA386013755KERAc.599C>G (p.Ala200Gly)
12g.91055683G>TCA386013754KERAc.599C>A (p.Ala200Asp)
gnomAD v4
12g.91055684C>ACA386013756KERAc.598G>T (p.Ala200Ser)
12g.91055684C>GCA386013757KERAc.598G>C (p.Ala200Pro)
12g.91055684C>TCA386013758KERAc.598G>A (p.Ala200Thr)
12g.91055685C>ACA386013759KERAc.597G>T (p.Met199Ile)
12g.91055685C=CA2054259729KERAc.597G= (p.Met199=)
12g.91055685C>GCA386013760KERAc.597G>C (p.Met199Ile)
12g.91055685C>TCA6716538KERAc.597G>A (p.Met199Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055686A=CA2054259735KERAc.596T= (p.Met199=)
12g.91055686A>CCA386013761KERAc.596T>G (p.Met199Arg)
12g.91055686A>GCA6716539KERAc.596T>C (p.Met199Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055686A>TCA386013762KERAc.596T>A (p.Met199Lys)
12g.91055687T>ACA386013765KERAc.595A>T (p.Met199Leu)
12g.91055687T>CCA386013764KERAc.595A>G (p.Met199Val)
12g.91055687T>GCA386013763KERAc.595A>C (p.Met199Leu)
12g.91055688G>ACA481306698KERAc.594C>T (p.Asn198=)
dbSNP gnomAD v2 gnomAD v4
12g.91055688G>CCA386013767KERAc.594C>G (p.Asn198Lys)
gnomAD v4
12g.91055688G=CA2054259737KERAc.594C= (p.Asn198=)
12g.91055688G>TCA386013766KERAc.594C>A (p.Asn198Lys)
12g.91055689T>ACA386013770KERAc.593A>T (p.Asn198Ile)
gnomAD v4
12g.91055689T>CCA386013768KERAc.593A>G (p.Asn198Ser)
12g.91055689T>GCA386013769KERAc.593A>C (p.Asn198Thr)
12g.91055691delCA2510570708KERAc.593del (p.Asn198ThrfsTer7)
12g.91055690T>ACA386013771KERAc.592A>T (p.Asn198Tyr)
dbSNP gnomAD v4
12g.91055690T>CCA386013772KERAc.592A>G (p.Asn198Asp)
12g.91055690T>GCA386013773KERAc.592A>C (p.Asn198His)
12g.91055690T=CA2054259739KERAc.592A= (p.Asn198=)
12g.91055691T>ACA481306709KERAc.591A>T (p.Leu197=)
12g.91055691T>CCA481306705KERAc.591A>G (p.Leu197=)
12g.91055691T>GCA481306707KERAc.591A>C (p.Leu197=)
12g.91055692A=CA2054259741KERAc.590T= (p.Leu197=)
12g.91055692A>CCA386013774KERAc.590T>G (p.Leu197Arg)
12g.91055692A>GCA6716540KERAc.590T>C (p.Leu197Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055692A>TCA386013775KERAc.590T>A (p.Leu197Gln)
12g.91055693G>ACA481306710KERAc.589C>T (p.Leu197=)
12g.91055693G>CCA6716541KERAc.589C>G (p.Leu197Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055693G=CA2054259744KERAc.589C= (p.Leu197=)
12g.91055693G>TCA386013776KERAc.589C>A (p.Leu197Ile)
12g.91055694C>ACA386013777KERAc.588G>T (p.Gln196His)
12g.91055694C=CA2054259747KERAc.588G= (p.Gln196=)
12g.91055694C>GCA6716542KERAc.588G>C (p.Gln196His)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055694C>TCA481306716KERAc.588G>A (p.Gln196=)
12g.91055695T>ACA386013778KERAc.587A>T (p.Gln196Leu)
12g.91055695T>CCA386013779KERAc.587A>G (p.Gln196Arg)
12g.91055695T>GCA386013780KERAc.587A>C (p.Gln196Pro)
gnomAD v4
12g.91055696G>ACA386013781KERAc.586C>T (p.Gln196Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055696G>CCA386013782KERAc.586C>G (p.Gln196Glu)
12g.91055696G=CA2054259751KERAc.586C= (p.Gln196=)
12g.91055696G>TCA386013783KERAc.586C>A (p.Gln196Lys)
12g.91055697C>ACA386013784KERAc.585G>T (p.Met195Ile)
gnomAD v4
12g.91055697C=CA2054259755KERAc.585G= (p.Met195=)
12g.91055697C>GCA386013785KERAc.585G>C (p.Met195Ile)
12g.91055697C>TCA386013786KERAc.585G>A (p.Met195Ile)
dbSNP gnomAD v2 gnomAD v4
12g.91055698A=CA2054259758KERAc.584T= (p.Met195=)
12g.91055698A>CCA386013788KERAc.584T>G (p.Met195Arg)
12g.91055698A>GCA6716543KERAc.584T>C (p.Met195Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055698A>TCA386013787KERAc.584T>A (p.Met195Lys)
12g.91055699T>ACA386013789KERAc.583A>T (p.Met195Leu)
12g.91055699T>CCA386013790KERAc.583A>G (p.Met195Val)
12g.91055699T>GCA386013791KERAc.583A>C (p.Met195Leu)
gnomAD v4
12g.91055700G>ACA481306729KERAc.582C>T (p.Leu194=)
12g.91055700G>CCA481306730KERAc.582C>G (p.Leu194=)
12g.91055700G>TCA481306731KERAc.582C>A (p.Leu194=)
12g.91055701A>CCA386013792KERAc.581T>G (p.Leu194Arg)
12g.91055701A>GCA386013793KERAc.581T>C (p.Leu194Pro)
gnomAD v4
12g.91055701A>TCA386013794KERAc.581T>A (p.Leu194His)
12g.91055702G>ACA386013795KERAc.580C>T (p.Leu194Phe)
gnomAD v4
12g.91055702G>CCA386013796KERAc.580C>G (p.Leu194Val)
12g.91055702G>TCA386013797KERAc.580C>A (p.Leu194Ile)
12g.91055703A>CCA386013798KERAc.579T>G (p.Asn193Lys)
12g.91055703A>GCA481306734KERAc.579T>C (p.Asn193=)
dbSNP
12g.91055703A>TCA386013799KERAc.579T>A (p.Asn193Lys)
12g.91055704T>ACA386013802KERAc.578A>T (p.Asn193Ile)
12g.91055704T>CCA386013800KERAc.578A>G (p.Asn193Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055704T>GCA386013801KERAc.578A>C (p.Asn193Thr)
12g.91055704T=CA2054259763KERAc.578A= (p.Asn193=)
12g.91055705T>ACA386013803KERAc.577A>T (p.Asn193Tyr)
12g.91055705T>CCA386013804KERAc.577A>G (p.Asn193Asp)
dbSNP gnomAD v3 gnomAD v4
12g.91055705T>GCA386013805KERAc.577A>C (p.Asn193His)
COSMIC
12g.91055705T=CA2054259767KERAc.577A= (p.Asn193=)
12g.91055706C>ACA386013806KERAc.576G>T (p.Lys192Asn)
12g.91055706C=CA2054259770KERAc.576G= (p.Lys192=)
12g.91055706C>GCA386013807KERAc.576G>C (p.Lys192Asn)
dbSNP gnomAD v3 gnomAD v4
12g.91055706C>TCA481306744KERAc.576G>A (p.Lys192=)
12g.91055707T>ACA386013808KERAc.575A>T (p.Lys192Met)
12g.91055707T>CCA386013809KERAc.575A>G (p.Lys192Arg)
12g.91055707T>GCA386013810KERAc.575A>C (p.Lys192Thr)
12g.91055708T>ACA386013811KERAc.574A>T (p.Lys192Ter)
12g.91055708T>CCA386013812KERAc.574A>G (p.Lys192Glu)
12g.91055708T>GCA386013813KERAc.574A>C (p.Lys192Gln)
12g.91055709G>ACA481306747KERAc.573C>T (p.Leu191=)
12g.91055709G>CCA481306750KERAc.573C>G (p.Leu191=)
12g.91055709G>TCA481306752KERAc.573C>A (p.Leu191=)
12g.91055710A>CCA386013815KERAc.572T>G (p.Leu191Arg)
12g.91055710A>GCA386013816KERAc.572T>C (p.Leu191Pro)
12g.91055710A>TCA386013814KERAc.572T>A (p.Leu191His)
12g.91055711G>ACA386013817KERAc.571C>T (p.Leu191Phe)
12g.91055711G>CCA386013819KERAc.571C>G (p.Leu191Val)
12g.91055711G>TCA386013818KERAc.571C>A (p.Leu191Ile)
12g.91055712T>ACA6716544KERAc.570A>T (p.Gly190=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055712T>CCA481306763KERAc.570A>G (p.Gly190=)
gnomAD v4
12g.91055712T>GCA481306764KERAc.570A>C (p.Gly190=)
12g.91055712T=CA2054259773KERAc.570A= (p.Gly190=)
12g.91055713C>ACA386013820KERAc.569G>T (p.Gly190Val)
12g.91055713C>GCA386013821KERAc.569G>C (p.Gly190Ala)
12g.91055713C>TCA386013822KERAc.569G>A (p.Gly190Glu)
12g.91055714C>ACA386013823KERAc.568G>T (p.Gly190Ter)
12g.91055714C=CA2054259780KERAc.568G= (p.Gly190=)
12g.91055714C>GCA386013824KERAc.568G>C (p.Gly190Arg)
12g.91055714C>TCA6716545KERAc.568G>A (p.Gly190Arg)
dbSNP ExAC gnomAD v2
12g.91055715T>ACA386013825KERAc.567A>T (p.Lys189Asn)
12g.91055715T>CCA481306779KERAc.567A>G (p.Lys189=)
12g.91055715T>GCA386013826KERAc.567A>C (p.Lys189Asn)
12g.91055716T>ACA386013827KERAc.566A>T (p.Lys189Ile)
12g.91055716T>CCA386013828KERAc.566A>G (p.Lys189Arg)
12g.91055716T>GCA386013829KERAc.566A>C (p.Lys189Thr)
12g.91055717T>ACA386013830KERAc.565A>T (p.Lys189Ter)
12g.91055717T>CCA386013832KERAc.565A>G (p.Lys189Glu)
gnomAD v4
12g.91055717T>GCA386013831KERAc.565A>C (p.Lys189Gln)
12g.91055718A=CA2054259782KERAc.564T= (p.Phe188=)
12g.91055718A>CCA386013833KERAc.564T>G (p.Phe188Leu)
12g.91055718A>GCA6716546KERAc.564T>C (p.Phe188=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055718A>TCA386013834KERAc.564T>A (p.Phe188Leu)
12g.91055719A>CCA386013835KERAc.563T>G (p.Phe188Cys)
12g.91055719A>GCA386013836KERAc.563T>C (p.Phe188Ser)
12g.91055719A>TCA386013837KERAc.563T>A (p.Phe188Tyr)
12g.91055720A>CCA386013838KERAc.562T>G (p.Phe188Val)
12g.91055720A>GCA386013839KERAc.562T>C (p.Phe188Leu)
12g.91055720A>TCA386013840KERAc.562T>A (p.Phe188Ile)
12g.91055721A=CA2054259785KERAc.561T= (p.Thr187=)
12g.91055721A>CCA481306797KERAc.561T>G (p.Thr187=)
dbSNP gnomAD v4
12g.91055721A>GCA481306798KERAc.561T>C (p.Thr187=)
12g.91055721A>TCA481306801KERAc.561T>A (p.Thr187=)
12g.91055722G>ACA6716547KERAc.560C>T (p.Thr187Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055722G>CCA386013842KERAc.560C>G (p.Thr187Ser)
12g.91055722G=CA2054259788KERAc.560C= (p.Thr187=)
12g.91055722G>TCA386013841KERAc.560C>A (p.Thr187Asn)
12g.91055723T>ACA6716548KERAc.559A>T (p.Thr187Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055723T>CCA386013843KERAc.559A>G (p.Thr187Ala)
12g.91055723T>GCA386013844KERAc.559A>C (p.Thr187Pro)
12g.91055723T=CA2054259791KERAc.559A= (p.Thr187=)
12g.91055724G>ACA241201399KERAc.558C>T (p.Asp186=)
dbSNP gnomAD v4
12g.91055724G>CCA386013845KERAc.558C>G (p.Asp186Glu)
12g.91055724G=CA2054259794KERAc.558C= (p.Asp186=)
12g.91055724G>TCA386013846KERAc.558C>A (p.Asp186Glu)
gnomAD v4
12g.91055725T>ACA386013847KERAc.557A>T (p.Asp186Val)
gnomAD v4
12g.91055725T>CCA386013848KERAc.557A>G (p.Asp186Gly)
12g.91055725T>GCA386013849KERAc.557A>C (p.Asp186Ala)
gnomAD v4
12g.91055726C>ACA6716549KERAc.556G>T (p.Asp186Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055726C=CA2054259798KERAc.556G= (p.Asp186=)
12g.91055726C>GCA386013850KERAc.556G>C (p.Asp186His)
12g.91055726C>TCA241201401KERAc.556G>A (p.Asp186Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055727T>ACA386013851KERAc.555A>T (p.Arg185Ser)
gnomAD v4
12g.91055727T>CCA481306815KERAc.555A>G (p.Arg185=)
12g.91055727T>GCA386013852KERAc.555A>C (p.Arg185Ser)
12g.91055728C>ACA386013853KERAc.554G>T (p.Arg185Ile)
12g.91055728C=CA2054259802KERAc.554G= (p.Arg185=)
12g.91055728C>GCA386013854KERAc.554G>C (p.Arg185Thr)
12g.91055728C>TCA241201404KERAc.554G>A (p.Arg185Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.91055729T>ACA386013855KERAc.553A>T (p.Arg185Ter)
12g.91055729T>CCA386013856KERAc.553A>G (p.Arg185Gly)
12g.91055729T>GCA481306915KERAc.553A>C (p.Arg185=)
gnomAD v4
12g.91055730T>ACA386013857KERAc.552A>T (p.Gln184His)
12g.91055730T>CCA481306917KERAc.552A>G (p.Gln184=)
12g.91055730T>GCA386013858KERAc.552A>C (p.Gln184His)
12g.91055731T>ACA386013861KERAc.551A>T (p.Gln184Leu)
12g.91055731T>CCA386013860KERAc.551A>G (p.Gln184Arg)
12g.91055731T>GCA386013859KERAc.551A>C (p.Gln184Pro)
dbSNP
12g.91055731T=CA2054259805KERAc.551A= (p.Gln184=)
12g.91055732G>ACA386013862KERAc.550C>T (p.Gln184Ter)
gnomAD v4
12g.91055732G>CCA386013864KERAc.550C>G (p.Gln184Glu)
12g.91055732G>TCA386013863KERAc.550C>A (p.Gln184Lys)
gnomAD v4
12g.91055733A=CA2054259809KERAc.549T= (p.Phe183=)
12g.91055733A>CCA386013865KERAc.549T>G (p.Phe183Leu)
gnomAD v4
12g.91055733A>GCA6716550KERAc.549T>C (p.Phe183=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055733A>TCA386013866KERAc.549T>A (p.Phe183Leu)
12g.91055734A=CA2054259812KERAc.548T= (p.Phe183=)
12g.91055734A>CCA386013867KERAc.548T>G (p.Phe183Cys)
gnomAD v4
12g.91055734A>GCA386013868KERAc.548T>C (p.Phe183Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055734A>TCA386013869KERAc.548T>A (p.Phe183Tyr)
12g.91055735A=CA2054259816KERAc.547T= (p.Phe183=)
12g.91055735A>CCA386013870KERAc.547T>G (p.Phe183Val)
12g.91055735A>GCA386013871KERAc.547T>C (p.Phe183Leu)
12g.91055735A>TCA386013872KERAc.547T>A (p.Phe183Ile)
dbSNP gnomAD v2 gnomAD v4
12g.91055736G>ACA481306918KERAc.546C>T (p.Ala182=)
12g.91055736G>CCA481306919KERAc.546C>G (p.Ala182=)
gnomAD v4
12g.91055736G>TCA481306920KERAc.546C>A (p.Ala182=)
12g.91055737G>ACA386013875KERAc.545C>T (p.Ala182Val)
12g.91055737G>CCA386013873KERAc.545C>G (p.Ala182Gly)
12g.91055737G>TCA386013874KERAc.545C>A (p.Ala182Asp)
12g.91055738C>ACA386013876KERAc.544G>T (p.Ala182Ser)
12g.91055738C=CA2054259820KERAc.544G= (p.Ala182=)
12g.91055738C>GCA386013877KERAc.544G>C (p.Ala182Pro)
12g.91055738C>TCA6716551KERAc.544G>A (p.Ala182Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055739A=CA2054259822KERAc.543T= (p.Asn181=)
12g.91055739A>CCA386013878KERAc.543T>G (p.Asn181Lys)
dbSNP gnomAD v2 gnomAD v4
12g.91055739A>GCA481306921KERAc.543T>C (p.Asn181=)
dbSNP
12g.91055739A>TCA386013879KERAc.543T>A (p.Asn181Lys)
12g.91055740T>ACA386013880KERAc.542A>T (p.Asn181Ile)
12g.91055740T>CCA6716552KERAc.542A>G (p.Asn181Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055740T>GCA386013881KERAc.542A>C (p.Asn181Thr)
12g.91055740T=CA2054259827KERAc.542A= (p.Asn181=)
12g.91055741T>ACA386013883KERAc.541A>T (p.Asn181Tyr)
12g.91055741T>CCA386013884KERAc.541A>G (p.Asn181Asp)
12g.91055741T>GCA386013882KERAc.541A>C (p.Asn181His)
gnomAD v4
12g.91055741_91055745delCA2796947201KERAc.537_541del (p.Asp180CysfsTer8)
12g.91055742G>ACA241201418KERAc.540C>T (p.Asp180=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055742G>CCA386013885KERAc.540C>G (p.Asp180Glu)
12g.91055742G=CA2054259831KERAc.540C= (p.Asp180=)
12g.91055742G>TCA386013886KERAc.540C>A (p.Asp180Glu)
12g.91055743T>ACA386013887KERAc.539A>T (p.Asp180Val)
12g.91055743T>CCA386013888KERAc.539A>G (p.Asp180Gly)
gnomAD v4
12g.91055743T>GCA386013889KERAc.539A>C (p.Asp180Ala)
12g.91055744C>ACA386013890KERAc.538G>T (p.Asp180Tyr)
12g.91055744C=CA2054259836KERAc.538G= (p.Asp180=)
12g.91055744C>GCA386013891KERAc.538G>C (p.Asp180His)
12g.91055744C>TCA386013892KERAc.538G>A (p.Asp180Asn)
dbSNP gnomAD v2 gnomAD v4
12g.91055745C>ACA6716553KERAc.537G>T (p.Val179=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055745C=CA2054259839KERAc.537G= (p.Val179=)
12g.91055745C>GCA481306923KERAc.537G>C (p.Val179=)
12g.91055745C>TCA241201421KERAc.537G>A (p.Val179=)
dbSNP
12g.91055746A=CA2054259842KERAc.536T= (p.Val179=)
12g.91055746A>CCA386013893KERAc.536T>G (p.Val179Gly)
12g.91055746A>GCA6716554KERAc.536T>C (p.Val179Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055746A>TCA386013894KERAc.536T>A (p.Val179Glu)
12g.91055747C>ACA386013895KERAc.535G>T (p.Val179Leu)
dbSNP gnomAD v4
12g.91055747C=CA2054259845KERAc.535G= (p.Val179=)
12g.91055747C>GCA386013896KERAc.535G>C (p.Val179Leu)
12g.91055747C>TCA386013897KERAc.535G>A (p.Val179Met)
gnomAD v4
12g.91055748T>ACA386013898KERAc.534A>T (p.Leu178Phe)
12g.91055748T>CCA481306926KERAc.534A>G (p.Leu178=)
12g.91055748T>GCA386013899KERAc.534A>C (p.Leu178Phe)
12g.91055749A=CA2054259847KERAc.533T= (p.Leu178=)
12g.91055749A>CCA386013900KERAc.533T>G (p.Leu178Ter)
12g.91055749A>GCA241201432KERAc.533T>C (p.Leu178Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055749A>TCA386013901KERAc.533T>A (p.Leu178Ter)
12g.91055750A>CCA386013902KERAc.532T>G (p.Leu178Val)
12g.91055750A>GCA481306927KERAc.532T>C (p.Leu178=)
gnomAD v4
12g.91055750A>TCA386013903KERAc.532T>A (p.Leu178Ile)
12g.91055751T>ACA386013905KERAc.531A>T (p.Lys177Asn)
12g.91055751T>CCA6716555KERAc.531A>G (p.Lys177=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055751T>GCA386013904KERAc.531A>C (p.Lys177Asn)
12g.91055751T=CA2054259851KERAc.531A= (p.Lys177=)
12g.91055753delCA2620149244KERAc.531del (p.Lys177AsnfsTer2)
gnomAD v4
12g.91055752T>ACA386013907KERAc.530A>T (p.Lys177Ile)
dbSNP
12g.91055752T>CCA386013906KERAc.530A>G (p.Lys177Arg)
12g.91055752T>GCA386013908KERAc.530A>C (p.Lys177Thr)
12g.91055752T=CA2054259853KERAc.530A= (p.Lys177=)
12g.91055753T>ACA386013909KERAc.529A>T (p.Lys177Ter)
12g.91055753T>CCA386013911KERAc.529A>G (p.Lys177Glu)
12g.91055753T>GCA386013910KERAc.529A>C (p.Lys177Gln)
12g.91055754G>ACA481306929KERAc.528C>T (p.Asn176=)
gnomAD v4 COSMIC
12g.91055754G>CCA6716556KERAc.528C>G (p.Asn176Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055754G=CA2054259859KERAc.528C= (p.Asn176=)
12g.91055754G>TCA386013912KERAc.528C>A (p.Asn176Lys)
12g.91055755T>ACA386013913KERAc.527A>T (p.Asn176Ile)
12g.91055755T>CCA386013914KERAc.527A>G (p.Asn176Ser)
12g.91055755T>GCA386013915KERAc.527A>C (p.Asn176Thr)
12g.91055756T>ACA386013916KERAc.526A>T (p.Asn176Tyr)
dbSNP
12g.91055756T>CCA386013917KERAc.526A>G (p.Asn176Asp)
12g.91055756T>GCA386013918KERAc.526A>C (p.Asn176His)
gnomAD v4
12g.91055756T=CA2054259861KERAc.526A= (p.Asn176=)
12g.91055757G>ACA481306931KERAc.525C>T (p.Asn175=)
12g.91055757G>CCA386013919KERAc.525C>G (p.Asn175Lys)
COSMIC
12g.91055757G>TCA386013920KERAc.525C>A (p.Asn175Lys)
12g.91055758T>ACA386013922KERAc.524A>T (p.Asn175Ile)
12g.91055758T>CCA6716557KERAc.524A>G (p.Asn175Ser)
dbSNP ExAC gnomAD v2
12g.91055758T>GCA386013921KERAc.524A>C (p.Asn175Thr)
12g.91055758T=CA2054259863KERAc.524A= (p.Asn175=)
12g.91055759T>ACA386013923KERAc.523A>T (p.Asn175Tyr)
12g.91055759T>CCA386013924KERAc.523A>G (p.Asn175Asp)
gnomAD v4
12g.91055759T>GCA386013925KERAc.523A>C (p.Asn175His)
12g.91055760C>ACA386013926KERAc.522G>T (p.Gln174His)
dbSNP
12g.91055760C=CA2054259865KERAc.522G= (p.Gln174=)
12g.91055760C>GCA386013927KERAc.522G>C (p.Gln174His)
12g.91055760C>TCA481306932KERAc.522G>A (p.Gln174=)
12g.91055761T>ACA386013928KERAc.521A>T (p.Gln174Leu)
12g.91055761T>CCA386013929KERAc.521A>G (p.Gln174Arg)
gnomAD v4
12g.91055761T>GCA386013930KERAc.521A>C (p.Gln174Pro)
12g.91055762G>ACA118321KERAc.520C>T (p.Gln174Ter)
ClinVar dbSNP ExAC gnomAD v4
12g.91055762G>CCA386013931KERAc.520C>G (p.Gln174Glu)
dbSNP gnomAD v2 gnomAD v4
12g.91055762G=CA2054259870KERAc.520C= (p.Gln174=)
12g.91055762G>TCA386013932KERAc.520C>A (p.Gln174Lys)
gnomAD v4
12g.91055763T>ACA481306936KERAc.519A>T (p.Leu173=)
12g.91055763T>CCA481306937KERAc.519A>G (p.Leu173=)
gnomAD v4
12g.91055763T>GCA481306938KERAc.519A>C (p.Leu173=)
12g.91055764A>CCA386013935KERAc.518T>G (p.Leu173Arg)
12g.91055764A>GCA386013933KERAc.518T>C (p.Leu173Pro)
12g.91055764A>TCA386013934KERAc.518T>A (p.Leu173Gln)
12g.91055765G>ACA481306939KERAc.517C>T (p.Leu173=)
dbSNP gnomAD v4
12g.91055765G>CCA386013936KERAc.517C>G (p.Leu173Val)
12g.91055765G=CA2054259873KERAc.517C= (p.Leu173=)
12g.91055765G>TCA386013937KERAc.517C>A (p.Leu173Ile)
12g.91055766G>ACA481306941KERAc.516C>T (p.Asp172=)
12g.91055766G>CCA386013938KERAc.516C>G (p.Asp172Glu)
12g.91055766G>TCA386013939KERAc.516C>A (p.Asp172Glu)
gnomAD v4
12g.91055767T>ACA386013940KERAc.515A>T (p.Asp172Val)
12g.91055767T>CCA386013941KERAc.515A>G (p.Asp172Gly)
COSMIC
12g.91055767T>GCA386013942KERAc.515A>C (p.Asp172Ala)
12g.91055768C>ACA386013943KERAc.514G>T (p.Asp172Tyr)
12g.91055768C>GCA386013944KERAc.514G>C (p.Asp172His)
gnomAD v4
12g.91055768C>TCA386013945KERAc.514G>A (p.Asp172Asn)
12g.91055769A>CCA481306942KERAc.513T>G (p.Leu171=)
12g.91055769A>GCA481306943KERAc.513T>C (p.Leu171=)
12g.91055769A>TCA481306944KERAc.513T>A (p.Leu171=)
gnomAD v4
12g.91055770A>CCA386013948KERAc.512T>G (p.Leu171Arg)
12g.91055770A>GCA386013947KERAc.512T>C (p.Leu171Pro)
12g.91055770A>TCA386013946KERAc.512T>A (p.Leu171His)
12g.91055771G>ACA386013949KERAc.511C>T (p.Leu171Phe)
gnomAD v4
12g.91055771G>CCA386013950KERAc.511C>G (p.Leu171Val)
12g.91055771G>TCA386013951KERAc.511C>A (p.Leu171Ile)
12g.91055772A=CA2054259875KERAc.510T= (p.Leu170=)
12g.91055772A>CCA481306948KERAc.510T>G (p.Leu170=)
12g.91055772A>GCA481306946KERAc.510T>C (p.Leu170=)
dbSNP gnomAD v2 gnomAD v4
12g.91055772A>TCA481306947KERAc.510T>A (p.Leu170=)
12g.91055773A>CCA386013952KERAc.509T>G (p.Leu170Arg)
12g.91055773A>GCA386013953KERAc.509T>C (p.Leu170Pro)
12g.91055773A>TCA386013954KERAc.509T>A (p.Leu170His)
12g.91055774G>ACA386013955KERAc.508C>T (p.Leu170Phe)
dbSNP gnomAD v3 gnomAD v4
12g.91055774G>CCA386013956KERAc.508C>G (p.Leu170Val)
12g.91055774G=CA2054259881KERAc.508C= (p.Leu170=)
12g.91055774G>TCA386013957KERAc.508C>A (p.Leu170Ile)
COSMIC
12g.91055775G>ACA6716558KERAc.507C>T (p.Thr169=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055775G>CCA481306949KERAc.507C>G (p.Thr169=)
gnomAD v4
12g.91055775G=CA2054259885KERAc.507C= (p.Thr169=)
12g.91055775G>TCA481306951KERAc.507C>A (p.Thr169=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.91055776G>ACA386013958KERAc.506C>T (p.Thr169Ile)
12g.91055776G>CCA386013960KERAc.506C>G (p.Thr169Ser)
12g.91055776G>TCA386013959KERAc.506C>A (p.Thr169Asn)

Number of alleles fetched