Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919774_89919777delinsTGTCCA2242009607MC1Rc.516_519delinsTGTC (p.Ser172=)
16g.89919778_89919780delCA8255638MC1Rc.520_522del (p.Val174del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919777C>ACA497380521MC1Rc.519C>A (p.Val173=)
gnomAD v4
16g.89919777C=CA2242009609MC1Rc.519C= (p.Val173=)
16g.89919777C>GCA497380522MC1Rc.519C>G (p.Val173=)
16g.89919777C>TCA8255640MC1Rc.519C>T (p.Val173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919778G>ACA8255641MC1Rc.520G>A (p.Val174Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919778G>CCA397461683MC1Rc.520G>C (p.Val174Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919778G=CA2242009610MC1Rc.520G= (p.Val174=)
16g.89919778G>TCA397461685MC1Rc.520G>T (p.Val174Phe)
gnomAD v4
16g.89919779T>ACA397461687MC1Rc.521T>A (p.Val174Asp)
16g.89919779T>CCA397461689MC1Rc.521T>C (p.Val174Ala)
16g.89919779T>GCA397461691MC1Rc.521T>G (p.Val174Gly)
16g.89919780C>ACA497380534MC1Rc.522C>A (p.Val174=)
gnomAD v4
16g.89919780C>GCA497380535MC1Rc.522C>G (p.Val174=)
16g.89919780C>TCA497380536MC1Rc.522C>T (p.Val174=)
gnomAD v4
16g.89919781T>ACA397461693MC1Rc.523T>A (p.Phe175Ile)
16g.89919781T>CCA397461695MC1Rc.523T>C (p.Phe175Leu)
gnomAD v4
16g.89919781T>GCA397461696MC1Rc.523T>G (p.Phe175Val)
16g.89919782dupCA2695224048MC1Rc.524dup (p.Ser176GlnfsTer?)
16g.89919782T>ACA397461700MC1Rc.524T>A (p.Phe175Tyr)
16g.89919782T>CCA397461703MC1Rc.524T>C (p.Phe175Ser)
16g.89919782T>GCA397461704MC1Rc.524T>G (p.Phe175Cys)
16g.89919782_89919785delinsTCAGCA2242009611MC1Rc.524_527delinsTCAG (p.Phe175=)
16g.89919783C>ACA397461708MC1Rc.525C>A (p.Phe175Leu)
16g.89919783C>GCA397461707MC1Rc.525C>G (p.Phe175Leu)
16g.89919783C>TCA497380558MC1Rc.525C>T (p.Phe175=)
gnomAD v4
16g.89919785_89919787delCA919769660MC1Rc.527_529del (p.Ser176del)
dbSNP
16g.89919784A=CA2242009612MC1Rc.526A= (p.Ser176=)
16g.89919784A>CCA397461711MC1Rc.526A>C (p.Ser176Arg)
dbSNP
16g.89919784A>GCA397461713MC1Rc.526A>G (p.Ser176Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919784A>TCA397461714MC1Rc.526A>T (p.Ser176Cys)
16g.89919785G>ACA397461716MC1Rc.527G>A (p.Ser176Asn)
dbSNP gnomAD v4
16g.89919785G>CCA397461717MC1Rc.527G>C (p.Ser176Thr)
dbSNP gnomAD v2 gnomAD v4
16g.89919785G=CA2242009613MC1Rc.527G= (p.Ser176=)
16g.89919785G>TCA397461718MC1Rc.527G>T (p.Ser176Ile)
16g.89919786C>ACA397461720MC1Rc.528C>A (p.Ser176Arg)
16g.89919786C>GCA397461722MC1Rc.528C>G (p.Ser176Arg)
16g.89919786C>TCA497380562MC1Rc.528C>T (p.Ser176=)
gnomAD v4
16g.89919787A=CA2242009614MC1Rc.529A= (p.Thr177=)
16g.89919787A>CCA397461725MC1Rc.529A>C (p.Thr177Pro)
16g.89919787A>GCA8255642MC1Rc.529A>G (p.Thr177Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919787A>TCA397461727MC1Rc.529A>T (p.Thr177Ser)
dbSNP gnomAD v2 gnomAD v4
16g.89919788C>ACA397461738MC1Rc.530C>A (p.Thr177Lys)
dbSNP gnomAD v3 gnomAD v4
16g.89919788C=CA2242009615MC1Rc.530C= (p.Thr177=)
16g.89919788C>GCA397461739MC1Rc.530C>G (p.Thr177Arg)
gnomAD v4
16g.89919788C>TCA8255643MC1Rc.530C>T (p.Thr177Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919789G>ACA8255644MC1Rc.531G>A (p.Thr177=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919789G>CCA497380571MC1Rc.531G>C (p.Thr177=)
16g.89919789G=CA2242009616MC1Rc.531G= (p.Thr177=)
16g.89919789G>TCA497380583MC1Rc.531G>T (p.Thr177=)
gnomAD v4
16g.89919790C>ACA397461744MC1Rc.532C>A (p.Leu178Ile)
16g.89919790C=CA2242009618MC1Rc.532C= (p.Leu178=)
16g.89919790C>GCA397461748MC1Rc.532C>G (p.Leu178Val)
dbSNP gnomAD v2
16g.89919790C>TCA397461746MC1Rc.532C>T (p.Leu178Phe)
16g.89919790_89919791delinsCTCA2242009619MC1Rc.532_533delinsCT (p.Leu178=)
16g.89919790_89919793delinsCTCTCA2242009617MC1Rc.532_535delinsCTCT (p.Leu178=)
16g.89919791delCA2242009620MC1Rc.533del (p.Leu178ProfsTer?)
dbSNP gnomAD v4
16g.89919791T>ACA397461751MC1Rc.533T>A (p.Leu178His)
16g.89919791T>CCA397461753MC1Rc.533T>C (p.Leu178Pro)
16g.89919791T>GCA397461754MC1Rc.533T>G (p.Leu178Arg)
16g.89919793_89919795delCA725761868MC1Rc.535_537del (p.Phe179del)
dbSNP gnomAD v3 gnomAD v4
16g.89919792C>ACA497380588MC1Rc.534C>A (p.Leu178=)
16g.89919792C=CA2242009621MC1Rc.534C= (p.Leu178=)
16g.89919792C>GCA497380590MC1Rc.534C>G (p.Leu178=)
gnomAD v4
16g.89919792C>TCA8255645MC1Rc.534C>T (p.Leu178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89919793T>ACA397461755MC1Rc.535T>A (p.Phe179Ile)
16g.89919793T>CCA397461756MC1Rc.535T>C (p.Phe179Leu)
16g.89919793T>GCA397461757MC1Rc.535T>G (p.Phe179Val)
16g.89919793_89919794insCCA286607519MC1Rc.535_536insC (p.Phe179SerfsTer?)
16g.89919794T>ACA397461758MC1Rc.536T>A (p.Phe179Tyr)
16g.89919794T>CCA397461760MC1Rc.536T>C (p.Phe179Ser)
16g.89919794T>GCA397461761MC1Rc.536T>G (p.Phe179Cys)
16g.89919794T=CA2242009622MC1Rc.536T= (p.Phe179=)
16g.89919795C>ACA397461770MC1Rc.537C>A (p.Phe179Leu)
gnomAD v4
16g.89919795C>GCA397461764MC1Rc.537C>G (p.Phe179Leu)
16g.89919795C>TCA497380600MC1Rc.537C>T (p.Phe179=)
gnomAD v4
16g.89919795dupCA8255646MC1Rc.537dup (p.Ile180HisfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919796A=CA2242009623MC1Rc.538A= (p.Ile180=)
16g.89919796A>CCA397461772MC1Rc.538A>C (p.Ile180Leu)
16g.89919796A>GCA8255647MC1Rc.538A>G (p.Ile180Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919796A>TCA397461775MC1Rc.538A>T (p.Ile180Phe)
16g.89919797T>ACA397461776MC1Rc.539T>A (p.Ile180Asn)
dbSNP gnomAD v4
16g.89919797T>CCA397461777MC1Rc.539T>C (p.Ile180Thr)
16g.89919797T>GCA397461779MC1Rc.539T>G (p.Ile180Ser)
dbSNP
16g.89919797T=CA2242009624MC1Rc.539T= (p.Ile180=)
16g.89919798C>ACA497380613MC1Rc.540C>A (p.Ile180=)
16g.89919798C=CA2242009625MC1Rc.540C= (p.Ile180=)
16g.89919798C>GCA397461780MC1Rc.540C>G (p.Ile180Met)
16g.89919798C>TCA8255648MC1Rc.540C>T (p.Ile180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919799G>ACA8255649MC1Rc.541G>A (p.Ala181Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919799G>CCA397461785MC1Rc.541G>C (p.Ala181Pro)
ClinVar
16g.89919799G=CA2242009626MC1Rc.541G= (p.Ala181=)
16g.89919799G>TCA397461784MC1Rc.541G>T (p.Ala181Ser)
gnomAD v4
16g.89919802_89920805delCA916083514MC1Rc.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?])
c.544_*17del
c.544_1098+68del
ClinVar
16g.89919800C>ACA397461788MC1Rc.542C>A (p.Ala181Asp)
16g.89919800C=CA2242009627MC1Rc.542C= (p.Ala181=)
16g.89919800C>GCA286607524MC1Rc.542C>G (p.Ala181Gly)
ClinVar dbSNP
16g.89919800C>TCA397461789MC1Rc.542C>T (p.Ala181Val)
dbSNP gnomAD v3 gnomAD v4
16g.89919801dupCA2635066575MC1Rc.543dup (p.Tyr182LeufsTer?)
gnomAD v4
16g.89919801C>ACA497380620MC1Rc.543C>A (p.Ala181=)
16g.89919801C=CA2242009628MC1Rc.543C= (p.Ala181=)
16g.89919801C>GCA497380622MC1Rc.543C>G (p.Ala181=)
gnomAD v4
16g.89919801C>TCA497380624MC1Rc.543C>T (p.Ala181=)
dbSNP
16g.89919801_89919802insCTCCTGAGGGCCGGCA2635066583MC1Rc.543_544insCTCCTGAGGGCCGG (p.Tyr182LeufsTer?)
gnomAD v4
16g.89919802T>ACA397461790MC1Rc.544T>A (p.Tyr182Asn)
16g.89919802T>CCA397461792MC1Rc.544T>C (p.Tyr182His)
dbSNP gnomAD v2 gnomAD v4
16g.89919802T>GCA397461794MC1Rc.544T>G (p.Tyr182Asp)
16g.89919802T=CA2242009629MC1Rc.544T= (p.Tyr182=)
16g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGACA2242009630MC1Rc.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=])
c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
16g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGCA2635066586MC1Rc.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG (p.Tyr182SerfsTer2)
gnomAD v4
16g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGCCA2635066587MC1Rc.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC (p.Tyr182SerfsTer2)
gnomAD v4
16g.89919803A=CA2242009631MC1Rc.545A= (p.Tyr182=)
16g.89919803A>CCA8255650MC1Rc.545A>C (p.Tyr182Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919803A>GCA286607527MC1Rc.545A>G (p.Tyr182Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919803A>TCA397461795MC1Rc.545A>T (p.Tyr182Phe)
gnomAD v4
16g.89919803_89920802delCA658798660MC1Rc.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8])
c.545_*14del
c.545_1098+65del
ClinVar dbSNP
16g.89919804C>ACA397461796MC1Rc.546C>A (p.Tyr182Ter)
16g.89919804C=CA2242009632MC1Rc.546C= (p.Tyr182=)
16g.89919804C>GCA8255652MC1Rc.546C>G (p.Tyr182Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919804C>TCA8255651MC1Rc.546C>T (p.Tyr182=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919805T>ACA397461804MC1Rc.547T>A (p.Tyr183Asn)
16g.89919805T>CCA8255654MC1Rc.547T>C (p.Tyr183His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919805T>GCA8255653MC1Rc.547T>G (p.Tyr183Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919805T=CA2242009633MC1Rc.547T= (p.Tyr183=)
16g.89919806A=CA2242009634MC1Rc.548A= (p.Tyr183=)
16g.89919806A>CCA397461811MC1Rc.548A>C (p.Tyr183Ser)
16g.89919806A>GCA8255655MC1Rc.548A>G (p.Tyr183Cys)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.89919806A>TCA397461823MC1Rc.548A>T (p.Tyr183Phe)
16g.89919807C>ACA397461825MC1Rc.549C>A (p.Tyr183Ter)
dbSNP gnomAD v2 gnomAD v4
16g.89919807C=CA2242009635MC1Rc.549C= (p.Tyr183=)
16g.89919807C>GCA397461830MC1Rc.549C>G (p.Tyr183Ter)
gnomAD v4
16g.89919807C>TCA8255656MC1Rc.549C>T (p.Tyr183=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919808G>ACA8255658MC1Rc.550G>A (p.Asp184Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919808G>CCA8255657MC1Rc.550G>C (p.Asp184His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919808G=CA2242009636MC1Rc.550G= (p.Asp184=)
16g.89919808G>TCA397461837MC1Rc.550G>T (p.Asp184Tyr)
dbSNP gnomAD v2 gnomAD v4
16g.89919809A=CA2242009637MC1Rc.551A= (p.Asp184=)
16g.89919809A>CCA397461840MC1Rc.551A>C (p.Asp184Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919809A>GCA8255659MC1Rc.551A>G (p.Asp184Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919809A>TCA397461856MC1Rc.551A>T (p.Asp184Val)
16g.89919810C>ACA397461859MC1Rc.552C>A (p.Asp184Glu)
16g.89919810C=CA2242009638MC1Rc.552C= (p.Asp184=)
16g.89919810C>GCA397461862MC1Rc.552C>G (p.Asp184Glu)
16g.89919810C>TCA497380652MC1Rc.552C>T (p.Asp184=)
dbSNP gnomAD v3 gnomAD v4
16g.89919811C>ACA397461867MC1Rc.553C>A (p.His185Asn)
16g.89919811C=CA2242009639MC1Rc.553C= (p.His185=)
16g.89919811C>GCA397461870MC1Rc.553C>G (p.His185Asp)
16g.89919811C>TCA397461872MC1Rc.553C>T (p.His185Tyr)
dbSNP gnomAD v2 gnomAD v4
16g.89919812A>CCA397461873MC1Rc.554A>C (p.His185Pro)
16g.89919812A>GCA397461874MC1Rc.554A>G (p.His185Arg)
16g.89919812A>TCA397461875MC1Rc.554A>T (p.His185Leu)
16g.89919813C>ACA397461879MC1Rc.555C>A (p.His185Gln)
COSMIC
16g.89919813C=CA2242009640MC1Rc.555C= (p.His185=)
16g.89919813C>GCA397461876MC1Rc.555C>G (p.His185Gln)
16g.89919813C>TCA8255660MC1Rc.555C>T (p.His185=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919814G>ACA8255661MC1Rc.556G>A (p.Val186Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919814G>CCA397461891MC1Rc.556G>C (p.Val186Leu)
16g.89919814G=CA2242009641MC1Rc.556G= (p.Val186=)
16g.89919814G>TCA397461894MC1Rc.556G>T (p.Val186Leu)
gnomAD v4
16g.89919815T>ACA397461896MC1Rc.557T>A (p.Val186Glu)
16g.89919815T>CCA397461900MC1Rc.557T>C (p.Val186Ala)
dbSNP
16g.89919815T>GCA397461902MC1Rc.557T>G (p.Val186Gly)
16g.89919816G>ACA8255662MC1Rc.558G>A (p.Val186=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919816G>CCA497380667MC1Rc.558G>C (p.Val186=)
16g.89919816G=CA2242009642MC1Rc.558G= (p.Val186=)
16g.89919816G>TCA497380668MC1Rc.558G>T (p.Val186=)
dbSNP gnomAD v2 gnomAD v4
16g.89919817G>ACA397461912MC1Rc.559G>A (p.Ala187Thr)
gnomAD v4
16g.89919817G>CCA397461914MC1Rc.559G>C (p.Ala187Pro)
16g.89919817G>TCA397461916MC1Rc.559G>T (p.Ala187Ser)
gnomAD v4
16g.89919818C>ACA397461919MC1Rc.560C>A (p.Ala187Asp)
COSMIC
16g.89919818C>GCA397461922MC1Rc.560C>G (p.Ala187Gly)
16g.89919818C>TCA397461930MC1Rc.560C>T (p.Ala187Val)
gnomAD v4
16g.89919819C>ACA497380679MC1Rc.561C>A (p.Ala187=)
dbSNP
16g.89919819C=CA2242009643MC1Rc.561C= (p.Ala187=)
16g.89919819C>GCA497380685MC1Rc.561C>G (p.Ala187=)
16g.89919819C>TCA8255663MC1Rc.561C>T (p.Ala187=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919820G>ACA8255664MC1Rc.562G>A (p.Val188Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919820G>CCA397461933MC1Rc.562G>C (p.Val188Leu)
16g.89919820G=CA2242009644MC1Rc.562G= (p.Val188=)
16g.89919820G>TCA397461950MC1Rc.562G>T (p.Val188Phe)
gnomAD v4
16g.89919821T>ACA397461953MC1Rc.563T>A (p.Val188Asp)
16g.89919821T>CCA397461954MC1Rc.563T>C (p.Val188Ala)
16g.89919821T>GCA397461956MC1Rc.563T>G (p.Val188Gly)
16g.89919822C>ACA497380692MC1Rc.564C>A (p.Val188=)
ClinVar gnomAD v4
16g.89919822C=CA2242009645MC1Rc.564C= (p.Val188=)
16g.89919822C>GCA497380694MC1Rc.564C>G (p.Val188=)
gnomAD v4
16g.89919822C>TCA497380695MC1Rc.564C>T (p.Val188=)
dbSNP gnomAD v4 COSMIC
16g.89919823C>ACA397461960MC1Rc.565C>A (p.Leu189Met)
16g.89919823C=CA2242009646MC1Rc.565C= (p.Leu189=)
16g.89919823C>GCA397461964MC1Rc.565C>G (p.Leu189Val)
16g.89919823C>TCA497380698MC1Rc.565C>T (p.Leu189=)
ClinVar dbSNP gnomAD v4
16g.89919824T>ACA397461982MC1Rc.566T>A (p.Leu189Gln)
16g.89919824T>CCA397461977MC1Rc.566T>C (p.Leu189Pro)
gnomAD v4
16g.89919824T>GCA397461973MC1Rc.566T>G (p.Leu189Arg)
16g.89919825G>ACA497380702MC1Rc.567G>A (p.Leu189=)
gnomAD v4
16g.89919825G>CCA497380705MC1Rc.567G>C (p.Leu189=)
16g.89919825G=CA2242009647MC1Rc.567G= (p.Leu189=)
16g.89919825G>TCA497380704MC1Rc.567G>T (p.Leu189=)
ClinVar dbSNP gnomAD v4
16g.89919826C>ACA397461985MC1Rc.568C>A (p.Leu190Met)
gnomAD v4
16g.89919826C=CA2242009648MC1Rc.568C= (p.Leu190=)
16g.89919826C>GCA397461991MC1Rc.568C>G (p.Leu190Val)
gnomAD v4
16g.89919826C>TCA8255665MC1Rc.568C>T (p.Leu190=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919827T>ACA397461995MC1Rc.569T>A (p.Leu190Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919827T>CCA286607544MC1Rc.569T>C (p.Leu190Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919827T>GCA397462007MC1Rc.569T>G (p.Leu190Arg)
16g.89919827T=CA2242009649MC1Rc.569T= (p.Leu190=)
16g.89919828G>ACA497380714MC1Rc.570G>A (p.Leu190=)
dbSNP gnomAD v4
16g.89919828G>CCA497380718MC1Rc.570G>C (p.Leu190=)
16g.89919828G>TCA497380720MC1Rc.570G>T (p.Leu190=)
gnomAD v4
16g.89919828_89919840delinsGTGCCTCGTGGTCCA2242009650MC1Rc.570_582delinsGTGCCTCGTGGTC (p.Leu190=)
16g.89919829T>ACA397462010MC1Rc.571T>A (p.Cys191Ser)
16g.89919829T>CCA8255666MC1Rc.571T>C (p.Cys191Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919829T>GCA397462013MC1Rc.571T>G (p.Cys191Gly)
16g.89919829T=CA2242009651MC1Rc.571T= (p.Cys191=)
16g.89919830_89919841delCA624455299MC1Rc.572_583del (p.Cys191_Val194del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919830G>ACA397462014MC1Rc.572G>A (p.Cys191Tyr)
gnomAD v4
16g.89919830G>CCA397462017MC1Rc.572G>C (p.Cys191Ser)
16g.89919830G=CA2242009652MC1Rc.572G= (p.Cys191=)
16g.89919830G>TCA397462022MC1Rc.572G>T (p.Cys191Phe)
dbSNP gnomAD v4
16g.89919831C>ACA397462025MC1Rc.573C>A (p.Cys191Ter)
16g.89919831C>GCA397462031MC1Rc.573C>G (p.Cys191Trp)
16g.89919831C>TCA497380731MC1Rc.573C>T (p.Cys191=)
gnomAD v4
16g.89919832C>ACA397462033MC1Rc.574C>A (p.Leu192Ile)
16g.89919832C>GCA397462035MC1Rc.574C>G (p.Leu192Val)
gnomAD v4
16g.89919832C>TCA397462037MC1Rc.574C>T (p.Leu192Phe)
gnomAD v4
16g.89919833T>ACA397462040MC1Rc.575T>A (p.Leu192His)
16g.89919833T>CCA233346MC1Rc.575T>C (p.Leu192Pro)
ClinVar dbSNP
16g.89919833T>GCA397462048MC1Rc.575T>G (p.Leu192Arg)
16g.89919833T=CA2242009653MC1Rc.575T= (p.Leu192=)
16g.89919834C>ACA497380738MC1Rc.576C>A (p.Leu192=)
gnomAD v4
16g.89919834C=CA2242009654MC1Rc.576C= (p.Leu192=)
16g.89919834C>GCA286607547MC1Rc.576C>G (p.Leu192=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919834C>TCA8255667MC1Rc.576C>T (p.Leu192=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919835G>ACA8255668MC1Rc.577G>A (p.Val193Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919835G>CCA397462057MC1Rc.577G>C (p.Val193Leu)
gnomAD v4
16g.89919835G=CA2242009655MC1Rc.577G= (p.Val193=)
16g.89919835G>TCA397462059MC1Rc.577G>T (p.Val193Leu)
dbSNP COSMIC
16g.89919836T>ACA397462062MC1Rc.578T>A (p.Val193Glu)
16g.89919836T>CCA397462064MC1Rc.578T>C (p.Val193Ala)
16g.89919836T>GCA397462065MC1Rc.578T>G (p.Val193Gly)
16g.89919837G>ACA497380749MC1Rc.579G>A (p.Val193=)
gnomAD v4
16g.89919837G>CCA497380747MC1Rc.579G>C (p.Val193=)
16g.89919837G>TCA497380748MC1Rc.579G>T (p.Val193=)
16g.89919838G>ACA397462068MC1Rc.580G>A (p.Val194Ile)
16g.89919838G>CCA397462066MC1Rc.580G>C (p.Val194Leu)
16g.89919838G>TCA397462067MC1Rc.580G>T (p.Val194Phe)
gnomAD v4
16g.89919838_89919841delinsGTCTCA2242009656MC1Rc.580_583delinsGTCT (p.Val194=)
16g.89919839T>ACA397462072MC1Rc.581T>A (p.Val194Asp)
gnomAD v4
16g.89919839T>CCA397462082MC1Rc.581T>C (p.Val194Ala)
16g.89919839T>GCA397462086MC1Rc.581T>G (p.Val194Gly)
16g.89919844_89919846delCA286607550MC1Rc.586_588del (p.Phe196del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919840C>ACA497380755MC1Rc.582C>A (p.Val194=)
16g.89919840C=CA2242009657MC1Rc.582C= (p.Val194=)
16g.89919840C>GCA8255670MC1Rc.582C>G (p.Val194=)
dbSNP ExAC gnomAD v2
16g.89919840C>TCA8255669MC1Rc.582C>T (p.Val194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919841T>ACA397462094MC1Rc.583T>A (p.Phe195Ile)
16g.89919841T>CCA397462109MC1Rc.583T>C (p.Phe195Leu)
16g.89919841T>GCA8255671MC1Rc.583T>G (p.Phe195Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919841T=CA2242009658MC1Rc.583T= (p.Phe195=)
16g.89919842T>ACA397462113MC1Rc.584T>A (p.Phe195Tyr)
16g.89919842T>CCA397462115MC1Rc.584T>C (p.Phe195Ser)
16g.89919842T>GCA397462117MC1Rc.584T>G (p.Phe195Cys)
16g.89919842_89919843delinsAGCA2580092414MC1Rc.584_585delinsAG (p.Phe195Ter)
ClinVar
16g.89919843C>ACA397462118MC1Rc.585C>A (p.Phe195Leu)
gnomAD v4
16g.89919843C>GCA397462122MC1Rc.585C>G (p.Phe195Leu)
gnomAD v4
16g.89919843C>TCA497380790MC1Rc.585C>T (p.Phe195=)
ClinVar gnomAD v4
16g.89919844T>ACA397462128MC1Rc.586T>A (p.Phe196Ile)
gnomAD v4
16g.89919844T>CCA8255672MC1Rc.586T>C (p.Phe196Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919844T>GCA286607556MC1Rc.586T>G (p.Phe196Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919844T=CA2242009659MC1Rc.586T= (p.Phe196=)
16g.89919845T>ACA397462137MC1Rc.587T>A (p.Phe196Tyr)
16g.89919845T>CCA397462138MC1Rc.587T>C (p.Phe196Ser)
16g.89919845T>GCA397462139MC1Rc.587T>G (p.Phe196Cys)
16g.89919845_89919846delinsTCCA2242009660MC1Rc.587_588delinsTC (p.Phe196=)
16g.89919846C>ACA397462141MC1Rc.588C>A (p.Phe196Leu)
16g.89919846C>GCA397462140MC1Rc.588C>G (p.Phe196Leu)
16g.89919846C>TCA497380806MC1Rc.588C>T (p.Phe196=)
16g.89919847delCA725762004MC1Rc.589del (p.Leu197TrpfsTer?)
dbSNP gnomAD v4
16g.89919847C>ACA397462144MC1Rc.589C>A (p.Leu197Met)
16g.89919847C=CA2242009661MC1Rc.589C= (p.Leu197=)
16g.89919847C>GCA397462151MC1Rc.589C>G (p.Leu197Val)
gnomAD v4
16g.89919847C>TCA497380809MC1Rc.589C>T (p.Leu197=)
dbSNP gnomAD v4
16g.89919848T>ACA397462158MC1Rc.590T>A (p.Leu197Gln)
16g.89919848T>CCA397462164MC1Rc.590T>C (p.Leu197Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919848T>GCA397462162MC1Rc.590T>G (p.Leu197Arg)
16g.89919848T=CA2242009662MC1Rc.590T= (p.Leu197=)
16g.89919849G>ACA497380818MC1Rc.591G>A (p.Leu197=)
16g.89919849G>CCA497380820MC1Rc.591G>C (p.Leu197=)
dbSNP gnomAD v3 gnomAD v4
16g.89919849G=CA2242009663MC1Rc.591G= (p.Leu197=)
16g.89919849G>TCA497380821MC1Rc.591G>T (p.Leu197=)
gnomAD v4
16g.89919850G>ACA397462171MC1Rc.592G>A (p.Ala198Thr)
16g.89919850G>CCA8255673MC1Rc.592G>C (p.Ala198Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919850G=CA2242009664MC1Rc.592G= (p.Ala198=)
16g.89919850G>TCA397462175MC1Rc.592G>T (p.Ala198Ser)
gnomAD v4
16g.89919851C>ACA397462182MC1Rc.593C>A (p.Ala198Asp)
16g.89919851C=CA2242009665MC1Rc.593C= (p.Ala198=)
16g.89919851C>GCA397462187MC1Rc.593C>G (p.Ala198Gly)
dbSNP gnomAD v2 gnomAD v4
16g.89919851C>TCA397462185MC1Rc.593C>T (p.Ala198Val)
ClinVar dbSNP gnomAD v4 COSMIC
16g.89919852T>ACA497380836MC1Rc.594T>A (p.Ala198=)
16g.89919852T>CCA497380838MC1Rc.594T>C (p.Ala198=)
gnomAD v4
16g.89919852T>GCA497380840MC1Rc.594T>G (p.Ala198=)
dbSNP gnomAD v3 gnomAD v4
16g.89919852T=CA2242009666MC1Rc.594T= (p.Ala198=)
16g.89919853A=CA2242009667MC1Rc.595A= (p.Met199=)
16g.89919853A>CCA397462189MC1Rc.595A>C (p.Met199Leu)
dbSNP
16g.89919853A>GCA397462191MC1Rc.595A>G (p.Met199Val)
dbSNP gnomAD v4
16g.89919853A>TCA397462194MC1Rc.595A>T (p.Met199Leu)
16g.89919854T>ACA397462201MC1Rc.596T>A (p.Met199Lys)
16g.89919854T>CCA397462214MC1Rc.596T>C (p.Met199Thr)
dbSNP
16g.89919854T>GCA397462216MC1Rc.596T>G (p.Met199Arg)
16g.89919854T=CA2242009668MC1Rc.596T= (p.Met199=)
16g.89919855G>ACA397462219MC1Rc.597G>A (p.Met199Ile)
dbSNP gnomAD v4
16g.89919855G>CCA397462222MC1Rc.597G>C (p.Met199Ile)
16g.89919855G=CA2242009669MC1Rc.597G= (p.Met199=)
16g.89919855G>TCA397462225MC1Rc.597G>T (p.Met199Ile)
gnomAD v4
16g.89919856C>ACA397462229MC1Rc.598C>A (p.Leu200Met)
16g.89919856C=CA2242009670MC1Rc.598C= (p.Leu200=)
16g.89919856C>GCA397462232MC1Rc.598C>G (p.Leu200Val)
dbSNP gnomAD v4
16g.89919856C>TCA286607558MC1Rc.598C>T (p.Leu200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919857T>ACA397462242MC1Rc.599T>A (p.Leu200Gln)
16g.89919857T>CCA397462239MC1Rc.599T>C (p.Leu200Pro)
16g.89919857T>GCA397462237MC1Rc.599T>G (p.Leu200Arg)
16g.89919858G>ACA497380870MC1Rc.600G>A (p.Leu200=)
16g.89919858G>CCA497380866MC1Rc.600G>C (p.Leu200=)
16g.89919858G>TCA497380869MC1Rc.600G>T (p.Leu200=)
16g.89919859G>ACA397462246MC1Rc.601G>A (p.Val201Met)
16g.89919859G>CCA397462250MC1Rc.601G>C (p.Val201Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919859G=CA2242009671MC1Rc.601G= (p.Val201=)
16g.89919859G>TCA397462257MC1Rc.601G>T (p.Val201Leu)
gnomAD v4
16g.89919860T>ACA397462259MC1Rc.602T>A (p.Val201Glu)
16g.89919860T>CCA8255674MC1Rc.602T>C (p.Val201Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919860T>GCA397462264MC1Rc.602T>G (p.Val201Gly)
16g.89919860T=CA2242009672MC1Rc.602T= (p.Val201=)
16g.89919861G>ACA497380888MC1Rc.603G>A (p.Val201=)
gnomAD v4
16g.89919861G>CCA497380884MC1Rc.603G>C (p.Val201=)
16g.89919861G>TCA497380882MC1Rc.603G>T (p.Val201=)
gnomAD v4
16g.89919863_89919923delCA2635066772MC1Rc.605_665del (p.Leu202ProfsTer?)
gnomAD v4
16g.89919862C>ACA397462274MC1Rc.604C>A (p.Leu202Ile)
16g.89919862C>GCA397462275MC1Rc.604C>G (p.Leu202Val)
16g.89919862C>TCA397462276MC1Rc.604C>T (p.Leu202Phe)
16g.89919863T>ACA397462279MC1Rc.605T>A (p.Leu202His)
16g.89919863T>CCA397462280MC1Rc.605T>C (p.Leu202Pro)
16g.89919863T>GCA397462282MC1Rc.605T>G (p.Leu202Arg)
16g.89919864C>ACA497380894MC1Rc.606C>A (p.Leu202=)
gnomAD v4
16g.89919864C>GCA497380901MC1Rc.606C>G (p.Leu202=)
16g.89919864C>TCA497380898MC1Rc.606C>T (p.Leu202=)
16g.89919865A=CA2242009673MC1Rc.607A= (p.Met203=)
16g.89919865A>CCA397462283MC1Rc.607A>C (p.Met203Leu)
16g.89919865A>GCA8255676MC1Rc.607A>G (p.Met203Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919865A>TCA8255675MC1Rc.607A>T (p.Met203Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919866T>ACA397462292MC1Rc.608T>A (p.Met203Lys)
16g.89919866T>CCA8255678MC1Rc.608T>C (p.Met203Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919866T>GCA397462300MC1Rc.608T>G (p.Met203Arg)
16g.89919866T=CA2242009675MC1Rc.608T= (p.Met203=)
16g.89919871_89919894dupCA2635066786MC1Rc.613_636dup (p.Ala212_Arg213insValLeuTyrValHisMetLeuAla)
gnomAD v4
16g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCGCA2242009674MC1Rc.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG (p.Met203=)
16g.89919867G>ACA397462308MC1Rc.609G>A (p.Met203Ile)
gnomAD v4
16g.89919867G>CCA397462310MC1Rc.609G>C (p.Met203Ile)
16g.89919867G=CA2242009676MC1Rc.609G= (p.Met203=)
16g.89919867G>TCA397462313MC1Rc.609G>T (p.Met203Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89919871_89919900delCA8255677MC1Rc.613_642del (p.Val205_Ala214del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919868G>ACA397462319MC1Rc.610G>A (p.Ala204Thr)
gnomAD v4
16g.89919868G>CCA397462321MC1Rc.610G>C (p.Ala204Pro)
16g.89919868G>TCA397462325MC1Rc.610G>T (p.Ala204Ser)
16g.89919869C>ACA397462344MC1Rc.611C>A (p.Ala204Asp)
16g.89919869C>GCA397462333MC1Rc.611C>G (p.Ala204Gly)
COSMIC
16g.89919869C>TCA397462330MC1Rc.611C>T (p.Ala204Val)
gnomAD v4 COSMIC
16g.89919870C>ACA497380964MC1Rc.612C>A (p.Ala204=)
gnomAD v4
16g.89919870C=CA2242009677MC1Rc.612C= (p.Ala204=)
16g.89919870C>GCA497380965MC1Rc.612C>G (p.Ala204=)
dbSNP
16g.89919870C>TCA8255679MC1Rc.612C>T (p.Ala204=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919871delCA2576104032MC1Rc.613del (p.Val205CysfsTer?)
16g.89919871G>ACA8255680MC1Rc.613G>A (p.Val205Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919871G>CCA397462347MC1Rc.613G>C (p.Val205Leu)
dbSNP gnomAD v4
16g.89919871G=CA2242009678MC1Rc.613G= (p.Val205=)
16g.89919871G>TCA397462348MC1Rc.613G>T (p.Val205Leu)
dbSNP
16g.89919872T>ACA397462349MC1Rc.614T>A (p.Val205Glu)
dbSNP gnomAD v2 gnomAD v4
16g.89919872T>CCA397462350MC1Rc.614T>C (p.Val205Ala)
16g.89919872T>GCA397462352MC1Rc.614T>G (p.Val205Gly)
16g.89919872T=CA2242009679MC1Rc.614T= (p.Val205=)
16g.89919873G>ACA497380966MC1Rc.615G>A (p.Val205=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919873G>CCA497380967MC1Rc.615G>C (p.Val205=)
16g.89919873G=CA2242009680MC1Rc.615G= (p.Val205=)
16g.89919873G>TCA497380968MC1Rc.615G>T (p.Val205=)
16g.89919874C>ACA397462355MC1Rc.616C>A (p.Leu206Met)
16g.89919874C=CA2242009681MC1Rc.616C= (p.Leu206=)
16g.89919874C>GCA8255681MC1Rc.616C>G (p.Leu206Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919874C>TCA497380969MC1Rc.616C>T (p.Leu206=)
dbSNP gnomAD v4
16g.89919875T>ACA397462365MC1Rc.617T>A (p.Leu206Gln)
16g.89919875T>CCA8255682MC1Rc.617T>C (p.Leu206Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919875T>GCA397462367MC1Rc.617T>G (p.Leu206Arg)
16g.89919875T=CA2242009682MC1Rc.617T= (p.Leu206=)
16g.89919876G>ACA497380970MC1Rc.618G>A (p.Leu206=)
gnomAD v4
16g.89919876G>CCA497380972MC1Rc.618G>C (p.Leu206=)
16g.89919876G>TCA497380973MC1Rc.618G>T (p.Leu206=)
gnomAD v4
16g.89919877T>ACA397462369MC1Rc.619T>A (p.Tyr207Asn)
16g.89919877T>CCA397462370MC1Rc.619T>C (p.Tyr207His)
16g.89919877T>GCA397462368MC1Rc.619T>G (p.Tyr207Asp)

Number of alleles fetched