Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73322870_73322897delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG | CA2187186841 | HCN4 | c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro1066=) c.1978_2005delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro660=) | |
15 | g.73322873_73322899del | CA2187186847 | HCN4 | c.3196_3222del (p.Pro1066_Leu1074del) c.1978_2004del (p.Pro660_Leu668del) | dbSNP |
15 | g.73322875_73322902delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT | CA2187186862 | HCN4 | c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln1064=) c.1973_2000delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln658=) | |
15 | g.73322882_73322908del | CA7648866 | HCN4 | c.3191_3217del (p.Gln1064_Pro1072del) c.1973_1999del (p.Gln658_Pro666del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322887del | CA2575783818 | HCN4 | c.3209del (p.Gly1070AlafsTer?) c.1991del (p.Gly664AlafsTer?) | gnomAD v4 |
15 | g.73322885C>A | CA393086008 | HCN4 | c.3208G>T (p.Gly1070Cys) c.1990G>T (p.Gly664Cys) | |
15 | g.73322885C>G | CA393086009 | HCN4 | c.3208G>C (p.Gly1070Arg) c.1990G>C (p.Gly664Arg) | |
15 | g.73322885C>T | CA393086010 | HCN4 | c.3208G>A (p.Gly1070Ser) c.1990G>A (p.Gly664Ser) | |
15 | g.73322886C>A | CA491477918 | HCN4 | c.3207G>T (p.Arg1069=) c.1989G>T (p.Arg663=) | gnomAD v4 |
15 | g.73322886C>G | CA491477915 | HCN4 | c.3207G>C (p.Arg1069=) c.1989G>C (p.Arg663=) | |
15 | g.73322886C>T | CA491477914 | HCN4 | c.3207G>A (p.Arg1069=) c.1989G>A (p.Arg663=) | gnomAD v4 |
15 | g.73322887C>A | CA393086012 | HCN4 | c.3206G>T (p.Arg1069Leu) c.1988G>T (p.Arg663Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.73322887C= | CA2187186890 | HCN4 | c.3206G= (p.Arg1069=) c.1988G= (p.Arg663=) | |
15 | g.73322887C>G | CA393086011 | HCN4 | c.3206G>C (p.Arg1069Pro) c.1988G>C (p.Arg663Pro) | dbSNP gnomAD v4 |
15 | g.73322887C>T | CA7648869 | HCN4 | c.3206G>A (p.Arg1069Gln) c.1988G>A (p.Arg663Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322888G>A | CA7648870 | HCN4 | c.3205C>T (p.Arg1069Trp) c.1987C>T (p.Arg663Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322888G>C | CA393086013 | HCN4 | c.3205C>G (p.Arg1069Gly) c.1987C>G (p.Arg663Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73322888G= | CA2187186901 | HCN4 | c.3205C= (p.Arg1069=) c.1987C= (p.Arg663=) | |
15 | g.73322888G>T | CA491477920 | HCN4 | c.3205C>A (p.Arg1069=) c.1987C>A (p.Arg663=) | gnomAD v4 |
15 | g.73322889G>A | CA491477922 | HCN4 | c.3204C>T (p.Arg1068=) c.1986C>T (p.Arg662=) | gnomAD v4 |
15 | g.73322889G>C | CA491477924 | HCN4 | c.3204C>G (p.Arg1068=) c.1986C>G (p.Arg662=) | |
15 | g.73322889G>T | CA491477925 | HCN4 | c.3204C>A (p.Arg1068=) c.1986C>A (p.Arg662=) | gnomAD v4 |
15 | g.73322890C>A | CA393086014 | HCN4 | c.3203G>T (p.Arg1068Leu) c.1985G>T (p.Arg662Leu) | gnomAD v4 |
15 | g.73322890C= | CA2187186903 | HCN4 | c.3203G= (p.Arg1068=) c.1985G= (p.Arg662=) | |
15 | g.73322890C>G | CA393086015 | HCN4 | c.3203G>C (p.Arg1068Pro) c.1985G>C (p.Arg662Pro) | ClinVar dbSNP gnomAD v2 |
15 | g.73322890C>T | CA7648871 | HCN4 | c.3203G>A (p.Arg1068His) c.1985G>A (p.Arg662His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322891G>A | CA7648872 | HCN4 | c.3202C>T (p.Arg1068Cys) c.1984C>T (p.Arg662Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.73322891G>C | CA393086016 | HCN4 | c.3202C>G (p.Arg1068Gly) c.1984C>G (p.Arg662Gly) | |
15 | g.73322891G= | CA2187186909 | HCN4 | c.3202C= (p.Arg1068=) c.1984C= (p.Arg662=) | |
15 | g.73322891G>T | CA393086017 | HCN4 | c.3202C>A (p.Arg1068Ser) c.1984C>A (p.Arg662Ser) | ClinVar gnomAD v4 |
15 | g.73322892C>A | CA393086018 | HCN4 | c.3201G>T (p.Gln1067His) c.1983G>T (p.Gln661His) | gnomAD v4 |
15 | g.73322892C>G | CA393086019 | HCN4 | c.3201G>C (p.Gln1067His) c.1983G>C (p.Gln661His) | |
15 | g.73322892C>T | CA491477929 | HCN4 | c.3201G>A (p.Gln1067=) c.1983G>A (p.Gln661=) | gnomAD v4 |
15 | g.73322893T>A | CA393086020 | HCN4 | c.3200A>T (p.Gln1067Leu) c.1982A>T (p.Gln661Leu) | |
15 | g.73322893T>C | CA393086021 | HCN4 | c.3200A>G (p.Gln1067Arg) c.1982A>G (p.Gln661Arg) | gnomAD v4 |
15 | g.73322893T>G | CA393086022 | HCN4 | c.3200A>C (p.Gln1067Pro) c.1982A>C (p.Gln661Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73322893T= | CA2187186915 | HCN4 | c.3200A= (p.Gln1067=) c.1982A= (p.Gln661=) | |
15 | g.73322894G>A | CA393086025 | HCN4 | c.3199C>T (p.Gln1067Ter) c.1981C>T (p.Gln661Ter) | gnomAD v4 |
15 | g.73322894G>C | CA393086023 | HCN4 | c.3199C>G (p.Gln1067Glu) c.1981C>G (p.Gln661Glu) | |
15 | g.73322894G>T | CA393086024 | HCN4 | c.3199C>A (p.Gln1067Lys) c.1981C>A (p.Gln661Lys) | gnomAD v4 |
15 | g.73322898del | CA2575783819 | HCN4 | c.3199del (p.Gln1067SerfsTer?) c.1981del (p.Gln661SerfsTer?) | gnomAD v4 |
15 | g.73322895G>A | CA491477931 | HCN4 | c.3198C>T (p.Pro1066=) c.1980C>T (p.Pro660=) | gnomAD v4 |
15 | g.73322895G>C | CA491477932 | HCN4 | c.3198C>G (p.Pro1066=) c.1980C>G (p.Pro660=) | |
15 | g.73322895G>T | CA491477933 | HCN4 | c.3198C>A (p.Pro1066=) c.1980C>A (p.Pro660=) | gnomAD v4 |
15 | g.73322896G>A | CA393086026 | HCN4 | c.3197C>T (p.Pro1066Leu) c.1979C>T (p.Pro660Leu) | gnomAD v4 |
15 | g.73322896G>C | CA393086027 | HCN4 | c.3197C>G (p.Pro1066Arg) c.1979C>G (p.Pro660Arg) | |
15 | g.73322896G= | CA2187186921 | HCN4 | c.3197C= (p.Pro1066=) c.1979C= (p.Pro660=) | |
15 | g.73322896G>T | CA247667 | HCN4 | c.3197C>A (p.Pro1066His) c.1979C>A (p.Pro660His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322897G>A | CA393086028 | HCN4 | c.3196C>T (p.Pro1066Ser) c.1978C>T (p.Pro660Ser) | gnomAD v4 |
15 | g.73322897G>C | CA393086029 | HCN4 | c.3196C>G (p.Pro1066Ala) c.1978C>G (p.Pro660Ala) |