| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.73322872_73322881dup | CA2629370532 | HCN4 | c.3220_3229dup (p.Gly1077AlafsTer?) c.2002_2011dup (p.Gly671AlafsTer?) | gnomAD v4 |
| 15 | g.73322872_73322881del | CA2629370533 | HCN4 | c.3220_3229del (p.Leu1074AlafsTer?) c.2002_2011del (p.Leu668AlafsTer?) | gnomAD v4 |
| 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.73322879del | CA2575783817 | HCN4 | c.3218del (p.Pro1073ArgfsTer?) c.2000del (p.Pro667ArgfsTer?) | gnomAD v4 |
| 15 | g.73322875_73322902delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT | CA2187186862 | HCN4 | c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln1064=) c.1973_2000delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln658=) | |
| 15 | g.73322876G>A | CA393085992 | HCN4 | c.3217C>T (p.Pro1073Ser) c.1999C>T (p.Pro667Ser) | gnomAD v4 |
| 15 | g.73322876G>C | CA393085993 | HCN4 | c.3217C>G (p.Pro1073Ala) c.1999C>G (p.Pro667Ala) | |
| 15 | g.73322876G>T | CA393085994 | HCN4 | c.3217C>A (p.Pro1073Thr) c.1999C>A (p.Pro667Thr) | gnomAD v4 |
| 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.73322877G>A | CA491477897 | HCN4 | c.3216C>T (p.Pro1072=) c.1998C>T (p.Pro666=) | gnomAD v4 |
| 15 | g.73322877G>C | CA491477898 | HCN4 | c.3216C>G (p.Pro1072=) c.1998C>G (p.Pro666=) | |
| 15 | g.73322877G>T | CA491477899 | HCN4 | c.3216C>A (p.Pro1072=) c.1998C>A (p.Pro666=) | gnomAD v4 |
| 15 | g.73322878G>A | CA393085995 | HCN4 | c.3215C>T (p.Pro1072Leu) c.1997C>T (p.Pro666Leu) | |
| 15 | g.73322878G>C | CA393085996 | HCN4 | c.3215C>G (p.Pro1072Arg) c.1997C>G (p.Pro666Arg) | |
| 15 | g.73322878G>T | CA393085997 | HCN4 | c.3215C>A (p.Pro1072His) c.1997C>A (p.Pro666His) | gnomAD v4 |
| 15 | g.73322879G>A | CA7648867 | HCN4 | c.3214C>T (p.Pro1072Ser) c.1996C>T (p.Pro666Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322879G>C | CA393085998 | HCN4 | c.3214C>G (p.Pro1072Ala) c.1996C>G (p.Pro666Ala) | |
| 15 | g.73322879G= | CA2187186870 | HCN4 | c.3214C= (p.Pro1072=) c.1996C= (p.Pro666=) | |
| 15 | g.73322879G>T | CA393085999 | HCN4 | c.3214C>A (p.Pro1072Thr) c.1996C>A (p.Pro666Thr) | gnomAD v4 |
| 15 | g.73322880T>A | CA491477902 | HCN4 | c.3213A>T (p.Thr1071=) c.1995A>T (p.Thr665=) | gnomAD v4 |
| 15 | g.73322880T>C | CA491477903 | HCN4 | c.3213A>G (p.Thr1071=) c.1995A>G (p.Thr665=) | dbSNP |
| 15 | g.73322880T>G | CA491477904 | HCN4 | c.3213A>C (p.Thr1071=) c.1995A>C (p.Thr665=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322880T= | CA2187186874 | HCN4 | c.3213A= (p.Thr1071=) c.1995A= (p.Thr665=) | |
| 15 | g.73322881G>A | CA393086000 | HCN4 | c.3212C>T (p.Thr1071Ile) c.1994C>T (p.Thr665Ile) | ClinVar gnomAD v4 |
| 15 | g.73322881G>C | CA393086002 | HCN4 | c.3212C>G (p.Thr1071Arg) c.1994C>G (p.Thr665Arg) | |
| 15 | g.73322881G>T | CA393086001 | HCN4 | c.3212C>A (p.Thr1071Lys) c.1994C>A (p.Thr665Lys) | gnomAD v4 |
| 15 | g.73322882T>A | CA393086003 | HCN4 | c.3211A>T (p.Thr1071Ser) c.1993A>T (p.Thr665Ser) | gnomAD v4 |
| 15 | g.73322882T>C | CA393086004 | HCN4 | c.3211A>G (p.Thr1071Ala) c.1993A>G (p.Thr665Ala) | gnomAD v4 |
| 15 | g.73322882T>G | CA393086005 | HCN4 | c.3211A>C (p.Thr1071Pro) c.1993A>C (p.Thr665Pro) | gnomAD v4 |
| 15 | g.73322883G>A | CA491477908 | HCN4 | c.3210C>T (p.Gly1070=) c.1992C>T (p.Gly664=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322883G>C | CA491477909 | HCN4 | c.3210C>G (p.Gly1070=) c.1992C>G (p.Gly664=) | gnomAD v4 |
| 15 | g.73322883G= | CA2187186883 | HCN4 | c.3210C= (p.Gly1070=) c.1992C= (p.Gly664=) | |
| 15 | g.73322883G>T | CA491477910 | HCN4 | c.3210C>A (p.Gly1070=) c.1992C>A (p.Gly664=) | gnomAD v4 |
| 15 | g.73322884C>A | CA393086006 | HCN4 | c.3209G>T (p.Gly1070Val) c.1991G>T (p.Gly664Val) | gnomAD v4 |
| 15 | g.73322884C= | CA2187186887 | HCN4 | c.3209G= (p.Gly1070=) c.1991G= (p.Gly664=) | |
| 15 | g.73322884C>G | CA393086007 | HCN4 | c.3209G>C (p.Gly1070Ala) c.1991G>C (p.Gly664Ala) | |
| 15 | g.73322884C>T | CA7648868 | HCN4 | c.3209G>A (p.Gly1070Asp) c.1991G>A (p.Gly664Asp) | 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 |