Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73322779del | CA2573151085 | HCN4 | c.3317del (p.Pro1106ArgfsTer?) c.2099del (p.Pro700ArgfsTer?) | ClinVar dbSNP |
15 | g.73322778G>A | CA491477773 | HCN4 | c.3315C>T (p.Ser1105=) c.2097C>T (p.Ser699=) | ClinVar dbSNP gnomAD v4 |
15 | g.73322778G>C | CA491477774 | HCN4 | c.3315C>G (p.Ser1105=) c.2097C>G (p.Ser699=) | |
15 | g.73322778G= | CA2187186697 | HCN4 | c.3315C= (p.Ser1105=) c.2097C= (p.Ser699=) | |
15 | g.73322778G>T | CA491477775 | HCN4 | c.3315C>A (p.Ser1105=) c.2097C>A (p.Ser699=) | |
15 | g.73322778_73322779insC | CA2187186699 | HCN4 | c.3314_3315insG (p.His1107AlafsTer?) c.2096_2097insG (p.His701AlafsTer?) | dbSNP |
15 | g.73322779G>A | CA393085654 | HCN4 | c.3314C>T (p.Ser1105Phe) c.2096C>T (p.Ser699Phe) | gnomAD v4 |
15 | g.73322779G>C | CA393085656 | HCN4 | c.3314C>G (p.Ser1105Cys) c.2096C>G (p.Ser699Cys) | |
15 | g.73322779G= | CA2187186698 | HCN4 | c.3314C= (p.Ser1105=) c.2096C= (p.Ser699=) | |
15 | g.73322779G>T | CA393085657 | HCN4 | c.3314C>A (p.Ser1105Tyr) c.2096C>A (p.Ser699Tyr) | dbSNP gnomAD v2 |
15 | g.73322780A>C | CA393085664 | HCN4 | c.3313T>G (p.Ser1105Ala) c.2095T>G (p.Ser699Ala) | COSMIC |
15 | g.73322780A>G | CA393085661 | HCN4 | c.3313T>C (p.Ser1105Pro) c.2095T>C (p.Ser699Pro) | gnomAD v4 |
15 | g.73322780A>T | CA393085662 | HCN4 | c.3313T>A (p.Ser1105Thr) c.2095T>A (p.Ser699Thr) | |
15 | g.73322781G>A | CA491477776 | HCN4 | c.3312C>T (p.Ala1104=) c.2094C>T (p.Ala698=) | dbSNP |
15 | g.73322781G>C | CA491477777 | HCN4 | c.3312C>G (p.Ala1104=) c.2094C>G (p.Ala698=) | |
15 | g.73322781G>T | CA491477778 | HCN4 | c.3312C>A (p.Ala1104=) c.2094C>A (p.Ala698=) | |
15 | g.73322782G>A | CA393085666 | HCN4 | c.3311C>T (p.Ala1104Val) c.2093C>T (p.Ala698Val) | |
15 | g.73322782G>C | CA393085668 | HCN4 | c.3311C>G (p.Ala1104Gly) c.2093C>G (p.Ala698Gly) | |
15 | g.73322782G>T | CA393085670 | HCN4 | c.3311C>A (p.Ala1104Asp) c.2093C>A (p.Ala698Asp) | gnomAD v4 |
15 | g.73322783C>A | CA393085673 | HCN4 | c.3310G>T (p.Ala1104Ser) c.2092G>T (p.Ala698Ser) | gnomAD v4 |
15 | g.73322783C= | CA2187186703 | HCN4 | c.3310G= (p.Ala1104=) c.2092G= (p.Ala698=) | |
15 | g.73322783C>G | CA393085675 | HCN4 | c.3310G>C (p.Ala1104Pro) c.2092G>C (p.Ala698Pro) | |
15 | g.73322783C>T | CA7648848 | HCN4 | c.3310G>A (p.Ala1104Thr) c.2092G>A (p.Ala698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322784T>A | CA393085679 | HCN4 | c.3309A>T (p.Arg1103Ser) c.2091A>T (p.Arg697Ser) | |
15 | g.73322784T>C | CA491477779 | HCN4 | c.3309A>G (p.Arg1103=) c.2091A>G (p.Arg697=) | gnomAD v4 |
15 | g.73322784T>G | CA393085681 | HCN4 | c.3309A>C (p.Arg1103Ser) c.2091A>C (p.Arg697Ser) | |
15 | g.73322784_73322802delinsTCTGCGGAGAGTCTGCGCC | CA2187186704 | HCN4 | c.3291_3309delinsGGCGCAGACTCTCCGCAGA (p.Gly1097=) c.2073_2091delinsGGCGCAGACTCTCCGCAGA (p.Gly691=) | |
15 | g.73322785C>A | CA393085683 | HCN4 | c.3308G>T (p.Arg1103Ile) c.2090G>T (p.Arg697Ile) | gnomAD v4 |
15 | g.73322785C>G | CA393085686 | HCN4 | c.3308G>C (p.Arg1103Thr) c.2090G>C (p.Arg697Thr) | |
15 | g.73322785C>T | CA393085688 | HCN4 | c.3308G>A (p.Arg1103Lys) c.2090G>A (p.Arg697Lys) | |
15 | g.73322786_73322803del | CA7648849 | HCN4 | c.3291_3308del (p.Ala1098_Arg1103del) c.2073_2090del (p.Ala692_Arg697del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322786T>A | CA393085691 | HCN4 | c.3307A>T (p.Arg1103Ter) c.2089A>T (p.Arg697Ter) | |
15 | g.73322786T>C | CA10583260 | HCN4 | c.3307A>G (p.Arg1103Gly) c.2089A>G (p.Arg697Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.73322786T>G | CA491477780 | HCN4 | c.3307A>C (p.Arg1103=) c.2089A>C (p.Arg697=) | |
15 | g.73322786T= | CA2187186705 | HCN4 | c.3307A= (p.Arg1103=) c.2089A= (p.Arg697=) | |
15 | g.73322787G>A | CA491477781 | HCN4 | c.3306C>T (p.Arg1102=) c.2088C>T (p.Arg696=) | gnomAD v4 |
15 | g.73322787G>C | CA491477782 | HCN4 | c.3306C>G (p.Arg1102=) c.2088C>G (p.Arg696=) | dbSNP gnomAD v2 |
15 | g.73322787G= | CA2187186707 | HCN4 | c.3306C= (p.Arg1102=) c.2088C= (p.Arg696=) | |
15 | g.73322787G>T | CA491477783 | HCN4 | c.3306C>A (p.Arg1102=) c.2088C>A (p.Arg696=) | gnomAD v4 |
15 | g.73322788C>A | CA393085694 | HCN4 | c.3305G>T (p.Arg1102Leu) c.2087G>T (p.Arg696Leu) | gnomAD v4 |
15 | g.73322788C= | CA2187186710 | HCN4 | c.3305G= (p.Arg1102=) c.2087G= (p.Arg696=) | |
15 | g.73322788C>G | CA393085697 | HCN4 | c.3305G>C (p.Arg1102Pro) c.2087G>C (p.Arg696Pro) | |
15 | g.73322788C>T | CA7648850 | HCN4 | c.3305G>A (p.Arg1102His) c.2087G>A (p.Arg696His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322789G>A | CA7648851 | HCN4 | c.3304C>T (p.Arg1102Cys) c.2086C>T (p.Arg696Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322789G>C | CA393085702 | HCN4 | c.3304C>G (p.Arg1102Gly) c.2086C>G (p.Arg696Gly) | |
15 | g.73322789G= | CA2187186712 | HCN4 | c.3304C= (p.Arg1102=) c.2086C= (p.Arg696=) | |
15 | g.73322789G>T | CA393085699 | HCN4 | c.3304C>A (p.Arg1102Ser) c.2086C>A (p.Arg696Ser) | gnomAD v4 |
15 | g.73322789_73322790dup | CA2629370529 | HCN4 | c.3303_3304dup (p.Arg1102ProfsTer?) c.2085_2086dup (p.Arg696ProfsTer?) | gnomAD v4 |
15 | g.73322790G>A | CA491477784 | HCN4 | c.3303C>T (p.Leu1101=) c.2085C>T (p.Leu695=) | gnomAD v4 |
15 | g.73322790G>C | CA491477785 | HCN4 | c.3303C>G (p.Leu1101=) c.2085C>G (p.Leu695=) |