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.73322869del | CA619410582 | HCN4 | c.3228del (p.Gly1077AlafsTer?) c.2010del (p.Gly671AlafsTer?) | gnomAD v2 gnomAD v4 |
15 | g.73322867G>A | CA393085982 | HCN4 | c.3226C>T (p.Pro1076Ser) c.2008C>T (p.Pro670Ser) | gnomAD v4 |
15 | g.73322867G>C | CA393085981 | HCN4 | c.3226C>G (p.Pro1076Ala) c.2008C>G (p.Pro670Ala) | |
15 | g.73322867G= | CA2187186828 | HCN4 | c.3226C= (p.Pro1076=) c.2008C= (p.Pro670=) | |
15 | g.73322867G>T | CA393085980 | HCN4 | c.3226C>A (p.Pro1076Thr) c.2008C>A (p.Pro670Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73322868G>A | CA491477869 | HCN4 | c.3225C>T (p.Thr1075=) c.2007C>T (p.Thr669=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322868G>C | CA491477870 | HCN4 | c.3225C>G (p.Thr1075=) c.2007C>G (p.Thr669=) | |
15 | g.73322868G= | CA2187186831 | HCN4 | c.3225C= (p.Thr1075=) c.2007C= (p.Thr669=) | |
15 | g.73322868G>T | CA491477871 | HCN4 | c.3225C>A (p.Thr1075=) c.2007C>A (p.Thr669=) | gnomAD v4 |
15 | g.73322869_73322871del | CA2740096730 | HCN4 | c.3223_3225del (p.Thr1075del) c.2005_2007del (p.Thr669del) | ClinVar |
15 | g.73322869G>A | CA272663542 | HCN4 | c.3224C>T (p.Thr1075Ile) c.2006C>T (p.Thr669Ile) | dbSNP gnomAD v4 |
15 | g.73322869G>C | CA393085983 | HCN4 | c.3224C>G (p.Thr1075Ser) c.2006C>G (p.Thr669Ser) | gnomAD v4 |
15 | g.73322869G= | CA2187186835 | HCN4 | c.3224C= (p.Thr1075=) c.2006C= (p.Thr669=) | |
15 | g.73322869G>T | CA393085984 | HCN4 | c.3224C>A (p.Thr1075Asn) c.2006C>A (p.Thr669Asn) | gnomAD v4 |
15 | g.73322870T>A | CA393085985 | HCN4 | c.3223A>T (p.Thr1075Ser) c.2005A>T (p.Thr669Ser) | |
15 | g.73322870T>C | CA7648863 | HCN4 | c.3223A>G (p.Thr1075Ala) c.2005A>G (p.Thr669Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322870T>G | CA272663548 | HCN4 | c.3223A>C (p.Thr1075Pro) c.2005A>C (p.Thr669Pro) | dbSNP |
15 | g.73322870T= | CA2187186843 | HCN4 | c.3223A= (p.Thr1075=) c.2005A= (p.Thr669=) | |
15 | g.73322870_73322897delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG | CA2187186841 | HCN4 | c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro1066=) c.1978_2005delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro660=) | |
15 | g.73322871G>A | CA491477877 | HCN4 | c.3222C>T (p.Leu1074=) c.2004C>T (p.Leu668=) | gnomAD v4 |
15 | g.73322871G>C | CA491477876 | HCN4 | c.3222C>G (p.Leu1074=) c.2004C>G (p.Leu668=) | gnomAD v4 |
15 | g.73322871G>T | CA491477875 | HCN4 | c.3222C>A (p.Leu1074=) c.2004C>A (p.Leu668=) | gnomAD v4 |
15 | g.73322873_73322899del | CA2187186847 | HCN4 | c.3196_3222del (p.Pro1066_Leu1074del) c.1978_2004del (p.Pro660_Leu668del) | dbSNP |
15 | g.73322872A>C | CA393085986 | HCN4 | c.3221T>G (p.Leu1074Arg) c.2003T>G (p.Leu668Arg) | |
15 | g.73322872A>G | CA393085988 | HCN4 | c.3221T>C (p.Leu1074Pro) c.2003T>C (p.Leu668Pro) | gnomAD v4 |
15 | g.73322872A>T | CA393085987 | HCN4 | c.3221T>A (p.Leu1074His) c.2003T>A (p.Leu668His) | |
15 | g.73322873G>A | CA7648864 | HCN4 | c.3220C>T (p.Leu1074Phe) c.2002C>T (p.Leu668Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322873G>C | CA393085990 | HCN4 | c.3220C>G (p.Leu1074Val) c.2002C>G (p.Leu668Val) | |
15 | g.73322873G= | CA2187186850 | HCN4 | c.3220C= (p.Leu1074=) c.2002C= (p.Leu668=) | |
15 | g.73322873G>T | CA393085989 | HCN4 | c.3220C>A (p.Leu1074Ile) c.2002C>A (p.Leu668Ile) | gnomAD v4 |
15 | g.73322874C>A | CA491477893 | HCN4 | c.3219G>T (p.Pro1073=) c.2001G>T (p.Pro667=) | gnomAD v4 |
15 | g.73322874C= | CA2187186855 | HCN4 | c.3219G= (p.Pro1073=) c.2001G= (p.Pro667=) | |
15 | g.73322874C>G | CA491477895 | HCN4 | c.3219G>C (p.Pro1073=) c.2001G>C (p.Pro667=) | |
15 | g.73322874C>T | CA491477896 | HCN4 | c.3219G>A (p.Pro1073=) c.2001G>A (p.Pro667=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.73322875G>A | CA7648865 | HCN4 | c.3218C>T (p.Pro1073Leu) c.2000C>T (p.Pro667Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322875G>C | CA272663565 | HCN4 | c.3218C>G (p.Pro1073Arg) c.2000C>G (p.Pro667Arg) | ClinVar dbSNP gnomAD v4 |
15 | g.73322875G= | CA2187186860 | HCN4 | c.3218C= (p.Pro1073=) c.2000C= (p.Pro667=) | |
15 | g.73322875G>T | CA393085991 | HCN4 | c.3218C>A (p.Pro1073Gln) c.2000C>A (p.Pro667Gln) | gnomAD v4 |
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) |