Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.45645475G>ACA444401854HCN1c.559C>T (p.Leu187=)
5g.45645475G>CCA359707643HCN1c.559C>G (p.Leu187Val)
5g.45645475G>TCA359707644HCN1c.559C>A (p.Leu187Ile)
5g.45645476G>ACA444401855HCN1c.558C>T (p.Phe186=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.45645476G>CCA16611854HCN1c.558C>G (p.Phe186Leu)
ClinVar dbSNP
5g.45645476G=CA1543790651HCN1c.558C= (p.Phe186=)
5g.45645476G>TCA359707645HCN1c.558C>A (p.Phe186Leu)
5g.45645477A>CCA359707646HCN1c.557T>G (p.Phe186Cys)
5g.45645477A>GCA359707647HCN1c.557T>C (p.Phe186Ser)
5g.45645477A>TCA359707648HCN1c.557T>A (p.Phe186Tyr)
5g.45645478A>CCA359707649HCN1c.556T>G (p.Phe186Val)
5g.45645478A>GCA359707650HCN1c.556T>C (p.Phe186Leu)
5g.45645478A>TCA359707651HCN1c.556T>A (p.Phe186Ile)
COSMIC
5g.45645479A>CCA444401858HCN1c.555T>G (p.Val185=)
5g.45645479A>GCA444401856HCN1c.555T>C (p.Val185=)
5g.45645479A>TCA444401857HCN1c.555T>A (p.Val185=)
5g.45645480A>CCA359707652HCN1c.554T>G (p.Val185Gly)
5g.45645480A>GCA359707653HCN1c.554T>C (p.Val185Ala)
5g.45645480A>TCA359707654HCN1c.554T>A (p.Val185Asp)
5g.45645481C>ACA359707655HCN1c.553G>T (p.Val185Phe)
5g.45645481C>GCA359707656HCN1c.553G>C (p.Val185Leu)
5g.45645481C>TCA359707657HCN1c.553G>A (p.Val185Ile)
5g.45645482T>ACA444401859HCN1c.552A>T (p.Thr184=)
5g.45645482T>CCA444401861HCN1c.552A>G (p.Thr184=)
5g.45645482T>GCA444401860HCN1c.552A>C (p.Thr184=)
5g.45645483G>ACA359707660HCN1c.551C>T (p.Thr184Ile)
5g.45645483G>CCA359707659HCN1c.551C>G (p.Thr184Arg)
5g.45645483G>TCA359707658HCN1c.551C>A (p.Thr184Lys)
5g.45645484T>ACA359707661HCN1c.550A>T (p.Thr184Ser)
5g.45645484T>CCA359707662HCN1c.550A>G (p.Thr184Ala)
5g.45645484T>GCA359707663HCN1c.550A>C (p.Thr184Pro)
5g.45645485A=CA1543790657HCN1c.549T= (p.Asp183=)
5g.45645485A>CCA359707664HCN1c.549T>G (p.Asp183Glu)
5g.45645485A>GCA118324611HCN1c.549T>C (p.Asp183=)
ClinVar dbSNP gnomAD v4
5g.45645485A>TCA359707665HCN1c.549T>A (p.Asp183Glu)
5g.45645486T>ACA359707666HCN1c.548A>T (p.Asp183Val)
5g.45645486T>CCA359707667HCN1c.548A>G (p.Asp183Gly)
5g.45645486T>GCA359707668HCN1c.548A>C (p.Asp183Ala)
5g.45645487C>ACA359707669HCN1c.547G>T (p.Asp183Tyr)
5g.45645487C>GCA359707670HCN1c.547G>C (p.Asp183His)
COSMIC
5g.45645487C>TCA359707671HCN1c.547G>A (p.Asp183Asn)
COSMIC
5g.45645488T>ACA444401393HCN1c.546A>T (p.Ser182=)
5g.45645488T>CCA3259433HCN1c.546A>G (p.Ser182=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.45645488T>GCA444401395HCN1c.546A>C (p.Ser182=)
5g.45645488T=CA1543790662HCN1c.546A= (p.Ser182=)
5g.45645489G>ACA359707674HCN1c.545C>T (p.Ser182Leu)
5g.45645489G>CCA359707673HCN1c.545C>G (p.Ser182Ter)
5g.45645489G>TCA359707672HCN1c.545C>A (p.Ser182Ter)
5g.45645490A>CCA359707675HCN1c.544T>G (p.Ser182Ala)
5g.45645490A>GCA359707676HCN1c.544T>C (p.Ser182Pro)

Number of alleles fetched