UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.73322579C>A | CA393085045 | HCN4 | c.3514G>T (p.Ala1172Ser) c.2296G>T (p.Ala766Ser) | |
| 15 | g.73322579C>G | CA393085047 | HCN4 | c.3514G>C (p.Ala1172Pro) c.2296G>C (p.Ala766Pro) | |
| 15 | g.73322579C>T | CA393085049 | HCN4 | c.3514G>A (p.Ala1172Thr) c.2296G>A (p.Ala766Thr) | gnomAD v4 |
| 15 | g.73322580T>A | CA393085051 | HCN4 | c.3513A>T (p.Arg1171Ser) c.2295A>T (p.Arg765Ser) | |
| 15 | g.73322580T>C | CA491477930 | HCN4 | c.3513A>G (p.Arg1171=) c.2295A>G (p.Arg765=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322580T>G | CA393085052 | HCN4 | c.3513A>C (p.Arg1171Ser) c.2295A>C (p.Arg765Ser) | gnomAD v4 |
| 15 | g.73322580T= | CA2187186274 | HCN4 | c.3513A= (p.Arg1171=) c.2295A= (p.Arg765=) | |
| 15 | g.73322581C>A | CA301975 | HCN4 | c.3512G>T (p.Arg1171Ile) c.2294G>T (p.Arg765Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322581C= | CA2187186281 | HCN4 | c.3512G= (p.Arg1171=) c.2294G= (p.Arg765=) | |
| 15 | g.73322581C>G | CA393085054 | HCN4 | c.3512G>C (p.Arg1171Thr) c.2294G>C (p.Arg765Thr) | |
| 15 | g.73322581C>T | CA393085055 | HCN4 | c.3512G>A (p.Arg1171Lys) c.2294G>A (p.Arg765Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.73322582T>A | CA393085056 | HCN4 | c.3511A>T (p.Arg1171Ter) c.2293A>T (p.Arg765Ter) | |
| 15 | g.73322582T>C | CA393085057 | HCN4 | c.3511A>G (p.Arg1171Gly) c.2293A>G (p.Arg765Gly) | |
| 15 | g.73322582T>G | CA491477934 | HCN4 | c.3511A>C (p.Arg1171=) c.2293A>C (p.Arg765=) | |
| 15 | g.73322583T>A | CA491477937 | HCN4 | c.3510A>T (p.Ala1170=) c.2292A>T (p.Ala764=) | |
| 15 | g.73322583T>C | CA491477935 | HCN4 | c.3510A>G (p.Ala1170=) c.2292A>G (p.Ala764=) | |
| 15 | g.73322583T>G | CA491477936 | HCN4 | c.3510A>C (p.Ala1170=) c.2292A>C (p.Ala764=) | |
| 15 | g.73322584G>A | CA393085062 | HCN4 | c.3509C>T (p.Ala1170Val) c.2291C>T (p.Ala764Val) | |
| 15 | g.73322584G>C | CA393085060 | HCN4 | c.3509C>G (p.Ala1170Gly) c.2291C>G (p.Ala764Gly) | |
| 15 | g.73322584G>T | CA393085059 | HCN4 | c.3509C>A (p.Ala1170Glu) c.2291C>A (p.Ala764Glu) | |
| 15 | g.73322585C>A | CA393085064 | HCN4 | c.3508G>T (p.Ala1170Ser) c.2290G>T (p.Ala764Ser) | |
| 15 | g.73322585C= | CA2187186285 | HCN4 | c.3508G= (p.Ala1170=) c.2290G= (p.Ala764=) | |
| 15 | g.73322585C>G | CA393085067 | HCN4 | c.3508G>C (p.Ala1170Pro) c.2290G>C (p.Ala764Pro) | |
| 15 | g.73322585C>T | CA393085066 | HCN4 | c.3508G>A (p.Ala1170Thr) c.2290G>A (p.Ala764Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73322586C>A | CA491477939 | HCN4 | c.3507G>T (p.Gly1169=) c.2289G>T (p.Gly763=) | |
| 15 | g.73322586C>G | CA491477940 | HCN4 | c.3507G>C (p.Gly1169=) c.2289G>C (p.Gly763=) | |
| 15 | g.73322586C>T | CA491477941 | HCN4 | c.3507G>A (p.Gly1169=) c.2289G>A (p.Gly763=) | COSMIC |
| 15 | g.73322587C>A | CA393085069 | HCN4 | c.3506G>T (p.Gly1169Val) c.2288G>T (p.Gly763Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322587C= | CA2187186289 | HCN4 | c.3506G= (p.Gly1169=) c.2288G= (p.Gly763=) | |
| 15 | g.73322587C>G | CA393085070 | HCN4 | c.3506G>C (p.Gly1169Ala) c.2288G>C (p.Gly763Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322587C>T | CA393085071 | HCN4 | c.3506G>A (p.Gly1169Glu) c.2288G>A (p.Gly763Glu) | |
| 15 | g.73322587_73322590del | CA2629370523 | HCN4 | c.3503_3506del (p.Phe1168TrpfsTer12) c.2285_2288del (p.Phe762TrpfsTer12) | gnomAD v4 |
| 15 | g.73322587_73322591delinsCCAAA | CA2187186288 | HCN4 | c.3502_3506delinsTTTGG (p.Phe1168=) c.2284_2288delinsTTTGG (p.Phe762=) | |
| 15 | g.73322588C>A | CA393085076 | HCN4 | c.3505G>T (p.Gly1169Trp) c.2287G>T (p.Gly763Trp) | |
| 15 | g.73322588C>G | CA393085077 | HCN4 | c.3505G>C (p.Gly1169Arg) c.2287G>C (p.Gly763Arg) | |
| 15 | g.73322588C>T | CA393085078 | HCN4 | c.3505G>A (p.Gly1169Arg) c.2287G>A (p.Gly763Arg) | |
| 15 | g.73322588_73322594delinsCAAACAA | CA2187186298 | HCN4 | c.3499_3505delinsTTGTTTG (p.Leu1167=) c.2281_2287delinsTTGTTTG (p.Leu761=) | |
| 15 | g.73322592_73322595del | CA199790 | HCN4 | c.3502_3505del (p.Phe1168GlyfsTer12) c.2284_2287del (p.Phe762GlyfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322589A= | CA2187186302 | HCN4 | c.3504T= (p.Phe1168=) c.2286T= (p.Phe762=) | |
| 15 | g.73322589A>C | CA393085082 | HCN4 | c.3504T>G (p.Phe1168Leu) c.2286T>G (p.Phe762Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322589A>G | CA491477943 | HCN4 | c.3504T>C (p.Phe1168=) c.2286T>C (p.Phe762=) | |
| 15 | g.73322589A>T | CA393085085 | HCN4 | c.3504T>A (p.Phe1168Leu) c.2286T>A (p.Phe762Leu) | |
| 15 | g.73322590_73322595del | CA619410585 | HCN4 | c.3499_3504del (p.Leu1167_Phe1168del) c.2281_2286del (p.Leu761_Phe762del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322590A= | CA2187186304 | HCN4 | c.3503T= (p.Phe1168=) c.2285T= (p.Phe762=) | |
| 15 | g.73322590A>C | CA393085091 | HCN4 | c.3503T>G (p.Phe1168Cys) c.2285T>G (p.Phe762Cys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322590A>G | CA393085090 | HCN4 | c.3503T>C (p.Phe1168Ser) c.2285T>C (p.Phe762Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322590A>T | CA393085088 | HCN4 | c.3503T>A (p.Phe1168Tyr) c.2285T>A (p.Phe762Tyr) | |
| 15 | g.73322591A>C | CA393085093 | HCN4 | c.3502T>G (p.Phe1168Val) c.2284T>G (p.Phe762Val) | |
| 15 | g.73322591A>G | CA393085095 | HCN4 | c.3502T>C (p.Phe1168Leu) c.2284T>C (p.Phe762Leu) | |
| 15 | g.73322591A>T | CA393085097 | HCN4 | c.3502T>A (p.Phe1168Ile) c.2284T>A (p.Phe762Ile) | |
| 15 | g.73322592C>A | CA7648813 | HCN4 | c.3501G>T (p.Leu1167Phe) c.2283G>T (p.Leu761Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73322592C= | CA2187186305 | HCN4 | c.3501G= (p.Leu1167=) c.2283G= (p.Leu761=) | |
| 15 | g.73322592C>G | CA7648812 | HCN4 | c.3501G>C (p.Leu1167Phe) c.2283G>C (p.Leu761Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322592C>T | CA491477947 | HCN4 | c.3501G>A (p.Leu1167=) c.2283G>A (p.Leu761=) | |
| 15 | g.73322592_73322596delinsCAAAG | CA2187186306 | HCN4 | c.3497_3501delinsCTTTG (p.Ser1166=) c.2279_2283delinsCTTTG (p.Ser760=) | |
| 15 | g.73322593A= | CA2187186307 | HCN4 | c.3500T= (p.Leu1167=) c.2282T= (p.Leu761=) | |
| 15 | g.73322593A>C | CA393085101 | HCN4 | c.3500T>G (p.Leu1167Trp) c.2282T>G (p.Leu761Trp) | |
| 15 | g.73322593A>G | CA7648814 | HCN4 | c.3500T>C (p.Leu1167Ser) c.2282T>C (p.Leu761Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322593A>T | CA393085104 | HCN4 | c.3500T>A (p.Leu1167Ter) c.2282T>A (p.Leu761Ter) | |
| 15 | g.73322594_73322597del | CA301968 | HCN4 | c.3497_3500del (p.Ser1166CysfsTer14) c.2279_2282del (p.Ser760CysfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322593_73322594insCACCC | CA2804726809 | HCN4 | c.3499_3500insGGGTG (p.Leu1167TrpfsTer16) c.2281_2282insGGGTG (p.Leu761TrpfsTer16) | |
| 15 | g.73322594A>C | CA393085107 | HCN4 | c.3499T>G (p.Leu1167Val) c.2281T>G (p.Leu761Val) | |
| 15 | g.73322594A>G | CA491477951 | HCN4 | c.3499T>C (p.Leu1167=) c.2281T>C (p.Leu761=) | |
| 15 | g.73322594A>T | CA393085109 | HCN4 | c.3499T>A (p.Leu1167Met) c.2281T>A (p.Leu761Met) | |
| 15 | g.73322595_73322596insCCAAACACACCCAA | CA2804726810 | HCN4 | c.3499_3500insGGGTGTGTTTGGTT (p.Leu1167TrpfsTer19) c.2281_2282insGGGTGTGTTTGGTT (p.Leu761TrpfsTer19) | |
| 15 | g.73322595A>C | CA491477952 | HCN4 | c.3498T>G (p.Ser1166=) c.2280T>G (p.Ser760=) | |
| 15 | g.73322595A>G | CA491477954 | HCN4 | c.3498T>C (p.Ser1166=) c.2280T>C (p.Ser760=) | |
| 15 | g.73322595A>T | CA491477956 | HCN4 | c.3498T>A (p.Ser1166=) c.2280T>A (p.Ser760=) | |
| 15 | g.73322598_73322601del | CA2573151172 | HCN4 | c.3495_3498del (p.Ser1166CysfsTer14) c.2277_2280del (p.Ser760CysfsTer14) | ClinVar dbSNP |
| 15 | g.73322596G>A | CA393085113 | HCN4 | c.3497C>T (p.Ser1166Phe) c.2279C>T (p.Ser760Phe) | |
| 15 | g.73322596G>C | CA393085114 | HCN4 | c.3497C>G (p.Ser1166Cys) c.2279C>G (p.Ser760Cys) | |
| 15 | g.73322596G>T | CA393085111 | HCN4 | c.3497C>A (p.Ser1166Tyr) c.2279C>A (p.Ser760Tyr) | |
| 15 | g.73322597A>C | CA393085115 | HCN4 | c.3496T>G (p.Ser1166Ala) c.2278T>G (p.Ser760Ala) | |
| 15 | g.73322597A>G | CA393085116 | HCN4 | c.3496T>C (p.Ser1166Pro) c.2278T>C (p.Ser760Pro) | |
| 15 | g.73322597A>T | CA393085117 | HCN4 | c.3496T>A (p.Ser1166Thr) c.2278T>A (p.Ser760Thr) | |
| 15 | g.73322598C>A | CA491477959 | HCN4 | c.3495G>T (p.Leu1165=) c.2277G>T (p.Leu759=) | |
| 15 | g.73322598C= | CA2187186308 | HCN4 | c.3495G= (p.Leu1165=) c.2277G= (p.Leu759=) | |
| 15 | g.73322598C>G | CA491477961 | HCN4 | c.3495G>C (p.Leu1165=) c.2277G>C (p.Leu759=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322598C>T | CA491477960 | HCN4 | c.3495G>A (p.Leu1165=) c.2277G>A (p.Leu759=) | |
| 15 | g.73322599A= | CA2187186309 | HCN4 | c.3494T= (p.Leu1165=) c.2276T= (p.Leu759=) | |
| 15 | g.73322599A>C | CA393085119 | HCN4 | c.3494T>G (p.Leu1165Arg) c.2276T>G (p.Leu759Arg) | |
| 15 | g.73322599A>G | CA393085121 | HCN4 | c.3494T>C (p.Leu1165Pro) c.2276T>C (p.Leu759Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322599A>T | CA393085123 | HCN4 | c.3494T>A (p.Leu1165Gln) c.2276T>A (p.Leu759Gln) | |
| 15 | g.73322601_73322602del | CA2697549178 | HCN4 | c.3493_3494del (p.Leu1165ValfsTer28) c.2275_2276del (p.Leu759ValfsTer28) | ClinVar |
| 15 | g.73322600G>A | CA491477965 | HCN4 | c.3493C>T (p.Leu1165=) c.2275C>T (p.Leu759=) | COSMIC |
| 15 | g.73322600G>C | CA393085126 | HCN4 | c.3493C>G (p.Leu1165Val) c.2275C>G (p.Leu759Val) | |
| 15 | g.73322600G>T | CA393085124 | HCN4 | c.3493C>A (p.Leu1165Met) c.2275C>A (p.Leu759Met) | |
| 15 | g.73322601A>C | CA491477966 | HCN4 | c.3492T>G (p.Pro1164=) c.2274T>G (p.Pro758=) | |
| 15 | g.73322601A>G | CA491477967 | HCN4 | c.3492T>C (p.Pro1164=) c.2274T>C (p.Pro758=) | ClinVar |
| 15 | g.73322601A>T | CA491477968 | HCN4 | c.3492T>A (p.Pro1164=) c.2274T>A (p.Pro758=) | |
| 15 | g.73322602G>A | CA393085128 | HCN4 | c.3491C>T (p.Pro1164Leu) c.2273C>T (p.Pro758Leu) | |
| 15 | g.73322602G>C | CA393085129 | HCN4 | c.3491C>G (p.Pro1164Arg) c.2273C>G (p.Pro758Arg) | |
| 15 | g.73322602G>T | CA393085131 | HCN4 | c.3491C>A (p.Pro1164His) c.2273C>A (p.Pro758His) | |
| 15 | g.73322606del | CA491477970 | HCN4 | c.3491del (p.Pro1164LeufsTer17) c.2273del (p.Pro758LeufsTer17) | gnomAD v4 COSMIC |
| 15 | g.73322603G>A | CA393085133 | HCN4 | c.3490C>T (p.Pro1164Ser) c.2272C>T (p.Pro758Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322603G>C | CA7648815 | HCN4 | c.3490C>G (p.Pro1164Ala) c.2272C>G (p.Pro758Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322603G= | CA2187186310 | HCN4 | c.3490C= (p.Pro1164=) c.2272C= (p.Pro758=) | |
| 15 | g.73322603G>T | CA393085135 | HCN4 | c.3490C>A (p.Pro1164Thr) c.2272C>A (p.Pro758Thr) | gnomAD v4 |
| 15 | g.73322604G>A | CA491477971 | HCN4 | c.3489C>T (p.Pro1163=) c.2271C>T (p.Pro757=) | |
| 15 | g.73322604G>C | CA491477972 | HCN4 | c.3489C>G (p.Pro1163=) c.2271C>G (p.Pro757=) | |
| 15 | g.73322604G>T | CA491477973 | HCN4 | c.3489C>A (p.Pro1163=) c.2271C>A (p.Pro757=) | ClinVar |
| 15 | g.73322605G>A | CA272663151 | HCN4 | c.3488C>T (p.Pro1163Leu) c.2270C>T (p.Pro757Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322605G>C | CA393085139 | HCN4 | c.3488C>G (p.Pro1163Arg) c.2270C>G (p.Pro757Arg) | |
| 15 | g.73322605G= | CA2187186311 | HCN4 | c.3488C= (p.Pro1163=) c.2270C= (p.Pro757=) | |
| 15 | g.73322605G>T | CA7648816 | HCN4 | c.3488C>A (p.Pro1163His) c.2270C>A (p.Pro757His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73322606G>A | CA393085141 | HCN4 | c.3487C>T (p.Pro1163Ser) c.2269C>T (p.Pro757Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322606G>C | CA393085143 | HCN4 | c.3487C>G (p.Pro1163Ala) c.2269C>G (p.Pro757Ala) | |
| 15 | g.73322606G= | CA2187186312 | HCN4 | c.3487C= (p.Pro1163=) c.2269C= (p.Pro757=) | |
| 15 | g.73322606G>T | CA7648817 | HCN4 | c.3487C>A (p.Pro1163Thr) c.2269C>A (p.Pro757Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322607T>A | CA491477978 | HCN4 | c.3486A>T (p.Pro1162=) c.2268A>T (p.Pro756=) | |
| 15 | g.73322607T>C | CA491477979 | HCN4 | c.3486A>G (p.Pro1162=) c.2268A>G (p.Pro756=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322607T>G | CA491477977 | HCN4 | c.3486A>C (p.Pro1162=) c.2268A>C (p.Pro756=) | |
| 15 | g.73322607T= | CA2187186313 | HCN4 | c.3486A= (p.Pro1162=) c.2268A= (p.Pro756=) | |
| 15 | g.73322608G>A | CA393085145 | HCN4 | c.3485C>T (p.Pro1162Leu) c.2267C>T (p.Pro756Leu) | COSMIC |
| 15 | g.73322608G>C | CA393085147 | HCN4 | c.3485C>G (p.Pro1162Arg) c.2267C>G (p.Pro756Arg) | |
| 15 | g.73322608G>T | CA393085148 | HCN4 | c.3485C>A (p.Pro1162Gln) c.2267C>A (p.Pro756Gln) | |
| 15 | g.73322609G>A | CA393085150 | HCN4 | c.3484C>T (p.Pro1162Ser) c.2266C>T (p.Pro756Ser) | gnomAD v4 |
| 15 | g.73322609G>C | CA393085151 | HCN4 | c.3484C>G (p.Pro1162Ala) c.2266C>G (p.Pro756Ala) | |
| 15 | g.73322609G>T | CA393085153 | HCN4 | c.3484C>A (p.Pro1162Thr) c.2266C>A (p.Pro756Thr) | |
| 15 | g.73322610C>A | CA393085155 | HCN4 | c.3483G>T (p.Leu1161Phe) c.2265G>T (p.Leu755Phe) | |
| 15 | g.73322610C= | CA2187186314 | HCN4 | c.3483G= (p.Leu1161=) c.2265G= (p.Leu755=) | |
| 15 | g.73322610C>G | CA393085157 | HCN4 | c.3483G>C (p.Leu1161Phe) c.2265G>C (p.Leu755Phe) | |
| 15 | g.73322610C>T | CA7648818 | HCN4 | c.3483G>A (p.Leu1161=) c.2265G>A (p.Leu755=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322611A>C | CA393085161 | HCN4 | c.3482T>G (p.Leu1161Trp) c.2264T>G (p.Leu755Trp) | ClinVar |
| 15 | g.73322611A>G | CA393085163 | HCN4 | c.3482T>C (p.Leu1161Ser) c.2264T>C (p.Leu755Ser) | |
| 15 | g.73322611A>T | CA393085159 | HCN4 | c.3482T>A (p.Leu1161Ter) c.2264T>A (p.Leu755Ter) | |
| 15 | g.73322612A>C | CA393085164 | HCN4 | c.3481T>G (p.Leu1161Val) c.2263T>G (p.Leu755Val) | |
| 15 | g.73322612A>G | CA491477984 | HCN4 | c.3481T>C (p.Leu1161=) c.2263T>C (p.Leu755=) | gnomAD v4 |
| 15 | g.73322612A>T | CA393085165 | HCN4 | c.3481T>A (p.Leu1161Met) c.2263T>A (p.Leu755Met) | |
| 15 | g.73322613A>C | CA491477986 | HCN4 | c.3480T>G (p.Ser1160=) c.2262T>G (p.Ser754=) | |
| 15 | g.73322613A>G | CA491477987 | HCN4 | c.3480T>C (p.Ser1160=) c.2262T>C (p.Ser754=) | |
| 15 | g.73322613A>T | CA491477988 | HCN4 | c.3480T>A (p.Ser1160=) c.2262T>A (p.Ser754=) | |
| 15 | g.73322614G>A | CA393085167 | HCN4 | c.3479C>T (p.Ser1160Phe) c.2261C>T (p.Ser754Phe) | |
| 15 | g.73322614G>C | CA393085169 | HCN4 | c.3479C>G (p.Ser1160Cys) c.2261C>G (p.Ser754Cys) | gnomAD v4 |
| 15 | g.73322614G>T | CA393085171 | HCN4 | c.3479C>A (p.Ser1160Tyr) c.2261C>A (p.Ser754Tyr) | |
| 15 | g.73322615A>C | CA393085173 | HCN4 | c.3478T>G (p.Ser1160Ala) c.2260T>G (p.Ser754Ala) | |
| 15 | g.73322615A>G | CA393085175 | HCN4 | c.3478T>C (p.Ser1160Pro) c.2260T>C (p.Ser754Pro) | |
| 15 | g.73322615A>T | CA393085177 | HCN4 | c.3478T>A (p.Ser1160Thr) c.2260T>A (p.Ser754Thr) | |
| 15 | g.73322616del | CA2629370524 | HCN4 | c.3478del (p.Ser1160LeufsTer21) c.2260del (p.Ser754LeufsTer21) | gnomAD v4 |
| 15 | g.73322616A= | CA2187186315 | HCN4 | c.3477T= (p.Gly1159=) c.2259T= (p.Gly753=) | |
| 15 | g.73322616A>C | CA491477992 | HCN4 | c.3477T>G (p.Gly1159=) c.2259T>G (p.Gly753=) | |
| 15 | g.73322616A>G | CA491477993 | HCN4 | c.3477T>C (p.Gly1159=) c.2259T>C (p.Gly753=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322616A>T | CA491477994 | HCN4 | c.3477T>A (p.Gly1159=) c.2259T>A (p.Gly753=) | dbSNP |
| 15 | g.73322617C>A | CA393085179 | HCN4 | c.3476G>T (p.Gly1159Val) c.2258G>T (p.Gly753Val) | |
| 15 | g.73322617C= | CA2187186316 | HCN4 | c.3476G= (p.Gly1159=) c.2258G= (p.Gly753=) | |
| 15 | g.73322617C>G | CA393085181 | HCN4 | c.3476G>C (p.Gly1159Ala) c.2258G>C (p.Gly753Ala) | |
| 15 | g.73322617C>T | CA7648819 | HCN4 | c.3476G>A (p.Gly1159Asp) c.2258G>A (p.Gly753Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322618C>A | CA393085183 | HCN4 | c.3475G>T (p.Gly1159Cys) c.2257G>T (p.Gly753Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322618C= | CA2187186317 | HCN4 | c.3475G= (p.Gly1159=) c.2257G= (p.Gly753=) | |
| 15 | g.73322618C>G | CA393085185 | HCN4 | c.3475G>C (p.Gly1159Arg) c.2257G>C (p.Gly753Arg) | |
| 15 | g.73322618C>T | CA393085187 | HCN4 | c.3475G>A (p.Gly1159Ser) c.2257G>A (p.Gly753Ser) | dbSNP gnomAD v4 |
| 15 | g.73322619T>A | CA491477998 | HCN4 | c.3474A>T (p.Ser1158=) c.2256A>T (p.Ser752=) | |
| 15 | g.73322619T>C | CA491477999 | HCN4 | c.3474A>G (p.Ser1158=) c.2256A>G (p.Ser752=) | dbSNP |
| 15 | g.73322619T>G | CA491478000 | HCN4 | c.3474A>C (p.Ser1158=) c.2256A>C (p.Ser752=) | |
| 15 | g.73322619T= | CA2187186319 | HCN4 | c.3474A= (p.Ser1158=) c.2256A= (p.Ser752=) | |
| 15 | g.73322619_73322622delinsTGAG | CA2187186318 | HCN4 | c.3471_3474delinsCTCA (p.Ser1157=) c.2253_2256delinsCTCA (p.Ser751=) | |
| 15 | g.73322620G>A | CA393085190 | HCN4 | c.3473C>T (p.Ser1158Leu) c.2255C>T (p.Ser752Leu) | gnomAD v4 |
| 15 | g.73322620G>C | CA393085188 | HCN4 | c.3473C>G (p.Ser1158Ter) c.2255C>G (p.Ser752Ter) | |
| 15 | g.73322620G>T | CA393085189 | HCN4 | c.3473C>A (p.Ser1158Ter) c.2255C>A (p.Ser752Ter) | |
| 15 | g.73322622_73322624del | CA619410587 | HCN4 | c.3471_3473del (p.Ser1158del) c.2253_2255del (p.Ser752del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322621A>C | CA393085193 | HCN4 | c.3472T>G (p.Ser1158Ala) c.2254T>G (p.Ser752Ala) | |
| 15 | g.73322621A>G | CA393085194 | HCN4 | c.3472T>C (p.Ser1158Pro) c.2254T>C (p.Ser752Pro) | gnomAD v4 |
| 15 | g.73322621A>T | CA393085196 | HCN4 | c.3472T>A (p.Ser1158Thr) c.2254T>A (p.Ser752Thr) | |
| 15 | g.73322622G>A | CA272663165 | HCN4 | c.3471C>T (p.Ser1157=) c.2253C>T (p.Ser751=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322622G>C | CA491478006 | HCN4 | c.3471C>G (p.Ser1157=) c.2253C>G (p.Ser751=) | |
| 15 | g.73322622G= | CA2187186320 | HCN4 | c.3471C= (p.Ser1157=) c.2253C= (p.Ser751=) | |
| 15 | g.73322622G>T | CA491478005 | HCN4 | c.3471C>A (p.Ser1157=) c.2253C>A (p.Ser751=) | |
| 15 | g.73322623G>A | CA393085198 | HCN4 | c.3470C>T (p.Ser1157Phe) c.2252C>T (p.Ser751Phe) | |
| 15 | g.73322623G>C | CA393085200 | HCN4 | c.3470C>G (p.Ser1157Cys) c.2252C>G (p.Ser751Cys) | |
| 15 | g.73322623G>T | CA393085202 | HCN4 | c.3470C>A (p.Ser1157Tyr) c.2252C>A (p.Ser751Tyr) | |
| 15 | g.73322624A= | CA2187186321 | HCN4 | c.3469T= (p.Ser1157=) c.2251T= (p.Ser751=) | |
| 15 | g.73322624A>C | CA393085203 | HCN4 | c.3469T>G (p.Ser1157Ala) c.2251T>G (p.Ser751Ala) | gnomAD v4 |
| 15 | g.73322624A>G | CA393085204 | HCN4 | c.3469T>C (p.Ser1157Pro) c.2251T>C (p.Ser751Pro) | |
| 15 | g.73322624A>T | CA393085206 | HCN4 | c.3469T>A (p.Ser1157Thr) c.2251T>A (p.Ser751Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322625T>A | CA491478007 | HCN4 | c.3468A>T (p.Thr1156=) c.2250A>T (p.Thr750=) | |
| 15 | g.73322625T>C | CA16607135 | HCN4 | c.3468A>G (p.Thr1156=) c.2250A>G (p.Thr750=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322625T>G | CA491478009 | HCN4 | c.3468A>C (p.Thr1156=) c.2250A>C (p.Thr750=) | |
| 15 | g.73322625T= | CA2187186322 | HCN4 | c.3468A= (p.Thr1156=) c.2250A= (p.Thr750=) | |
| 15 | g.73322626G>A | CA393085208 | HCN4 | c.3467C>T (p.Thr1156Ile) c.2249C>T (p.Thr750Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322626G>C | CA393085209 | HCN4 | c.3467C>G (p.Thr1156Arg) c.2249C>G (p.Thr750Arg) | |
| 15 | g.73322626G= | CA2187186323 | HCN4 | c.3467C= (p.Thr1156=) c.2249C= (p.Thr750=) | |
| 15 | g.73322626G>T | CA393085211 | HCN4 | c.3467C>A (p.Thr1156Lys) c.2249C>A (p.Thr750Lys) | |
| 15 | g.73322627T>A | CA393085216 | HCN4 | c.3466A>T (p.Thr1156Ser) c.2248A>T (p.Thr750Ser) | |
| 15 | g.73322627T>C | CA393085215 | HCN4 | c.3466A>G (p.Thr1156Ala) c.2248A>G (p.Thr750Ala) | dbSNP gnomAD v2 |
| 15 | g.73322627T>G | CA393085213 | HCN4 | c.3466A>C (p.Thr1156Pro) c.2248A>C (p.Thr750Pro) | |
| 15 | g.73322627T= | CA2187186324 | HCN4 | c.3466A= (p.Thr1156=) c.2248A= (p.Thr750=) | |
| 15 | g.73322628C>A | CA393085220 | HCN4 | c.3465G>T (p.Lys1155Asn) c.2247G>T (p.Lys749Asn) | |
| 15 | g.73322628C= | CA2187186325 | HCN4 | c.3465G= (p.Lys1155=) c.2247G= (p.Lys749=) | |
| 15 | g.73322628C>G | CA393085218 | HCN4 | c.3465G>C (p.Lys1155Asn) c.2247G>C (p.Lys749Asn) | |
| 15 | g.73322628C>T | CA491478014 | HCN4 | c.3465G>A (p.Lys1155=) c.2247G>A (p.Lys749=) | ClinVar dbSNP |
| 15 | g.73322629T>A | CA393085222 | HCN4 | c.3464A>T (p.Lys1155Met) c.2246A>T (p.Lys749Met) | |
| 15 | g.73322629T>C | CA393085224 | HCN4 | c.3464A>G (p.Lys1155Arg) c.2246A>G (p.Lys749Arg) | |
| 15 | g.73322629T>G | CA393085226 | HCN4 | c.3464A>C (p.Lys1155Thr) c.2246A>C (p.Lys749Thr) | |
| 15 | g.73322629_73322631delinsTTC | CA2187186326 | HCN4 | c.3462_3464delinsGAA (p.Arg1154=) c.2244_2246delinsGAA (p.Arg748=) | |
| 15 | g.73322630T>A | CA393085228 | HCN4 | c.3463A>T (p.Lys1155Ter) c.2245A>T (p.Lys749Ter) | gnomAD v4 |
| 15 | g.73322630T>C | CA393085229 | HCN4 | c.3463A>G (p.Lys1155Glu) c.2245A>G (p.Lys749Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322630T>G | CA393085231 | HCN4 | c.3463A>C (p.Lys1155Gln) c.2245A>C (p.Lys749Gln) | |
| 15 | g.73322630T= | CA2187186327 | HCN4 | c.3463A= (p.Lys1155=) c.2245A= (p.Lys749=) | |
| 15 | g.73322630_73322631del | CA619410588 | HCN4 | c.3462_3463del (p.Lys1155AspfsTer?) c.2244_2245del (p.Lys749AspfsTer?) | dbSNP gnomAD v2 |
| 15 | g.73322631C>A | CA491478017 | HCN4 | c.3462G>T (p.Arg1154=) c.2244G>T (p.Arg748=) | ClinVar gnomAD v4 |
| 15 | g.73322631C>G | CA491478018 | HCN4 | c.3462G>C (p.Arg1154=) c.2244G>C (p.Arg748=) | |
| 15 | g.73322631C>T | CA491478019 | HCN4 | c.3462G>A (p.Arg1154=) c.2244G>A (p.Arg748=) | COSMIC |
| 15 | g.73322632del | CA2629370525 | HCN4 | c.3462del (p.Lys1155ArgfsTer26) c.2244del (p.Lys749ArgfsTer26) | gnomAD v4 |
| 15 | g.73322632C>A | CA393085233 | HCN4 | c.3461G>T (p.Arg1154Leu) c.2243G>T (p.Arg748Leu) | |
| 15 | g.73322632C= | CA2187186328 | HCN4 | c.3461G= (p.Arg1154=) c.2243G= (p.Arg748=) | |
| 15 | g.73322632C>G | CA393085235 | HCN4 | c.3461G>C (p.Arg1154Pro) c.2243G>C (p.Arg748Pro) | |
| 15 | g.73322632C>T | CA236697 | HCN4 | c.3461G>A (p.Arg1154Gln) c.2243G>A (p.Arg748Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322633G>A | CA7648820 | HCN4 | c.3460C>T (p.Arg1154Trp) c.2242C>T (p.Arg748Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73322633G>C | CA393085236 | HCN4 | c.3460C>G (p.Arg1154Gly) c.2242C>G (p.Arg748Gly) | dbSNP gnomAD v2 |
| 15 | g.73322633G= | CA2187186330 | HCN4 | c.3460C= (p.Arg1154=) c.2242C= (p.Arg748=) | |
| 15 | g.73322633G>T | CA491478020 | HCN4 | c.3460C>A (p.Arg1154=) c.2242C>A (p.Arg748=) | |
| 15 | g.73322633_73322637delinsGAGGC | CA2187186331 | HCN4 | c.3456_3460delinsGCCTC (p.Leu1152=) c.2238_2242delinsGCCTC (p.Leu746=) | |
| 15 | g.73322634A>C | CA491478021 | HCN4 | c.3459T>G (p.Pro1153=) c.2241T>G (p.Pro747=) | |
| 15 | g.73322634A>G | CA491478022 | HCN4 | c.3459T>C (p.Pro1153=) c.2241T>C (p.Pro747=) | |
| 15 | g.73322634A>T | CA491478023 | HCN4 | c.3459T>A (p.Pro1153=) c.2241T>A (p.Pro747=) | |
| 15 | g.73322636_73322639del | CA619410591 | HCN4 | c.3456_3459del (p.Pro1153GlyfsTer27) c.2238_2241del (p.Pro747GlyfsTer27) | dbSNP gnomAD v2 |
| 15 | g.73322635G>A | CA393085241 | HCN4 | c.3458C>T (p.Pro1153Leu) c.2240C>T (p.Pro747Leu) | gnomAD v4 |
| 15 | g.73322635G>C | CA393085242 | HCN4 | c.3458C>G (p.Pro1153Arg) c.2240C>G (p.Pro747Arg) | |
| 15 | g.73322635G>T | CA393085239 | HCN4 | c.3458C>A (p.Pro1153His) c.2240C>A (p.Pro747His) | |
| 15 | g.73322636G>A | CA393085244 | HCN4 | c.3457C>T (p.Pro1153Ser) c.2239C>T (p.Pro747Ser) | dbSNP gnomAD v2 |
| 15 | g.73322636G>C | CA393085246 | HCN4 | c.3457C>G (p.Pro1153Ala) c.2239C>G (p.Pro747Ala) | |
| 15 | g.73322636G= | CA2187186338 | HCN4 | c.3457C= (p.Pro1153=) c.2239C= (p.Pro747=) | |
| 15 | g.73322636G>T | CA393085248 | HCN4 | c.3457C>A (p.Pro1153Thr) c.2239C>A (p.Pro747Thr) | |
| 15 | g.73322637C>A | CA491478024 | HCN4 | c.3456G>T (p.Leu1152=) c.2238G>T (p.Leu746=) | |
| 15 | g.73322637C>G | CA491478026 | HCN4 | c.3456G>C (p.Leu1152=) c.2238G>C (p.Leu746=) | |
| 15 | g.73322637C>T | CA491478028 | HCN4 | c.3456G>A (p.Leu1152=) c.2238G>A (p.Leu746=) | |
| 15 | g.73322638A>C | CA393085249 | HCN4 | c.3455T>G (p.Leu1152Arg) c.2237T>G (p.Leu746Arg) | |
| 15 | g.73322638A>G | CA393085251 | HCN4 | c.3455T>C (p.Leu1152Pro) c.2237T>C (p.Leu746Pro) | |
| 15 | g.73322638A>T | CA393085253 | HCN4 | c.3455T>A (p.Leu1152Gln) c.2237T>A (p.Leu746Gln) | |
| 15 | g.73322640_73322641del | CA2629370526 | HCN4 | c.3454_3455del (p.Leu1152AlafsTer?) c.2236_2237del (p.Leu746AlafsTer?) | gnomAD v4 |
| 15 | g.73322639G>A | CA491478030 | HCN4 | c.3454C>T (p.Leu1152=) c.2236C>T (p.Leu746=) | |
| 15 | g.73322639G>C | CA393085254 | HCN4 | c.3454C>G (p.Leu1152Val) c.2236C>G (p.Leu746Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322639G= | CA2187186340 | HCN4 | c.3454C= (p.Leu1152=) c.2236C= (p.Leu746=) | |
| 15 | g.73322639G>T | CA393085256 | HCN4 | c.3454C>A (p.Leu1152Met) c.2236C>A (p.Leu746Met) | gnomAD v4 |
| 15 | g.73322640A>C | CA491478031 | HCN4 | c.3453T>G (p.Thr1151=) c.2235T>G (p.Thr745=) | |
| 15 | g.73322640A>G | CA491478032 | HCN4 | c.3453T>C (p.Thr1151=) c.2235T>C (p.Thr745=) | |
| 15 | g.73322640A>T | CA491478035 | HCN4 | c.3453T>A (p.Thr1151=) c.2235T>A (p.Thr745=) | |
| 15 | g.73322641G>A | CA393085258 | HCN4 | c.3452C>T (p.Thr1151Ile) c.2234C>T (p.Thr745Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322641G>C | CA393085260 | HCN4 | c.3452C>G (p.Thr1151Ser) c.2234C>G (p.Thr745Ser) | ClinVar gnomAD v4 |
| 15 | g.73322641G= | CA2187186346 | HCN4 | c.3452C= (p.Thr1151=) c.2234C= (p.Thr745=) | |
| 15 | g.73322641G>T | CA393085262 | HCN4 | c.3452C>A (p.Thr1151Asn) c.2234C>A (p.Thr745Asn) | gnomAD v4 |
| 15 | g.73322642T>A | CA393085264 | HCN4 | c.3451A>T (p.Thr1151Ser) c.2233A>T (p.Thr745Ser) | |
| 15 | g.73322642T>C | CA393085266 | HCN4 | c.3451A>G (p.Thr1151Ala) c.2233A>G (p.Thr745Ala) | |
| 15 | g.73322642T>G | CA393085268 | HCN4 | c.3451A>C (p.Thr1151Pro) c.2233A>C (p.Thr745Pro) | |
| 15 | g.73322643G>A | CA491478037 | HCN4 | c.3450C>T (p.Val1150=) c.2232C>T (p.Val744=) | dbSNP gnomAD v4 |
| 15 | g.73322643G>C | CA491478038 | HCN4 | c.3450C>G (p.Val1150=) c.2232C>G (p.Val744=) | |
| 15 | g.73322643G= | CA2187186351 | HCN4 | c.3450C= (p.Val1150=) c.2232C= (p.Val744=) | |
| 15 | g.73322643G>T | CA491478040 | HCN4 | c.3450C>A (p.Val1150=) c.2232C>A (p.Val744=) | |
| 15 | g.73322644A>C | CA393085273 | HCN4 | c.3449T>G (p.Val1150Gly) c.2231T>G (p.Val744Gly) | |
| 15 | g.73322644A>G | CA393085271 | HCN4 | c.3449T>C (p.Val1150Ala) c.2231T>C (p.Val744Ala) | gnomAD v4 |
| 15 | g.73322644A>T | CA393085269 | HCN4 | c.3449T>A (p.Val1150Asp) c.2231T>A (p.Val744Asp) | |
| 15 | g.73322645C>A | CA393085275 | HCN4 | c.3448G>T (p.Val1150Phe) c.2230G>T (p.Val744Phe) | |
| 15 | g.73322645C= | CA2187186355 | HCN4 | c.3448G= (p.Val1150=) c.2230G= (p.Val744=) | |
| 15 | g.73322645C>G | CA393085276 | HCN4 | c.3448G>C (p.Val1150Leu) c.2230G>C (p.Val744Leu) | |
| 15 | g.73322645C>T | CA7648821 | HCN4 | c.3448G>A (p.Val1150Ile) c.2230G>A (p.Val744Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322646G>A | CA7648822 | HCN4 | c.3447C>T (p.His1149=) c.2229C>T (p.His743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322646G>C | CA393085278 | HCN4 | c.3447C>G (p.His1149Gln) c.2229C>G (p.His743Gln) | |
| 15 | g.73322646G= | CA2187186362 | HCN4 | c.3447C= (p.His1149=) c.2229C= (p.His743=) | |
| 15 | g.73322646G>T | CA393085279 | HCN4 | c.3447C>A (p.His1149Gln) c.2229C>A (p.His743Gln) | gnomAD v4 |
| 15 | g.73322646_73322647delinsAA | CA1139664081 | HCN4 | c.3446_3447delinsTT (p.His1149Leu) c.2228_2229delinsTT (p.His743Leu) | ClinVar dbSNP |
| 15 | g.73322646_73322647delinsGT | CA2187186366 | HCN4 | c.3446_3447delinsAC (p.His1149=) c.2228_2229delinsAC (p.His743=) | |
| 15 | g.73322647T>A | CA393085284 | HCN4 | c.3446A>T (p.His1149Leu) c.2228A>T (p.His743Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322647T>C | CA393085281 | HCN4 | c.3446A>G (p.His1149Arg) c.2228A>G (p.His743Arg) | gnomAD v4 |
| 15 | g.73322647T>G | CA393085282 | HCN4 | c.3446A>C (p.His1149Pro) c.2228A>C (p.His743Pro) | |
| 15 | g.73322647T= | CA2187186373 | HCN4 | c.3446A= (p.His1149=) c.2228A= (p.His743=) | |
| 15 | g.73322648G>A | CA393085286 | HCN4 | c.3445C>T (p.His1149Tyr) c.2227C>T (p.His743Tyr) | ClinVar |
| 15 | g.73322648G>C | CA393085287 | HCN4 | c.3445C>G (p.His1149Asp) c.2227C>G (p.His743Asp) | |
| 15 | g.73322648G>T | CA393085288 | HCN4 | c.3445C>A (p.His1149Asn) c.2227C>A (p.His743Asn) | |
| 15 | g.73322649C>A | CA393085289 | HCN4 | c.3444G>T (p.Gln1148His) c.2226G>T (p.Gln742His) | gnomAD v4 |
| 15 | g.73322649C>G | CA393085290 | HCN4 | c.3444G>C (p.Gln1148His) c.2226G>C (p.Gln742His) | |
| 15 | g.73322649C>T | CA491478046 | HCN4 | c.3444G>A (p.Gln1148=) c.2226G>A (p.Gln742=) | dbSNP |
| 15 | g.73322650T>A | CA393085296 | HCN4 | c.3443A>T (p.Gln1148Leu) c.2225A>T (p.Gln742Leu) | |
| 15 | g.73322650T>C | CA393085292 | HCN4 | c.3443A>G (p.Gln1148Arg) c.2225A>G (p.Gln742Arg) | dbSNP |
| 15 | g.73322650T>G | CA393085294 | HCN4 | c.3443A>C (p.Gln1148Pro) c.2225A>C (p.Gln742Pro) | |
| 15 | g.73322650T= | CA2187186376 | HCN4 | c.3443A= (p.Gln1148=) c.2225A= (p.Gln742=) | |
| 15 | g.73322651G>A | CA393085297 | HCN4 | c.3442C>T (p.Gln1148Ter) c.2224C>T (p.Gln742Ter) | |
| 15 | g.73322651G>C | CA393085299 | HCN4 | c.3442C>G (p.Gln1148Glu) c.2224C>G (p.Gln742Glu) | gnomAD v4 |
| 15 | g.73322651G>T | CA393085301 | HCN4 | c.3442C>A (p.Gln1148Lys) c.2224C>A (p.Gln742Lys) | |
| 15 | g.73322652G>A | CA491478050 | HCN4 | c.3441C>T (p.Gly1147=) c.2223C>T (p.Gly741=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322652G>C | CA491478051 | HCN4 | c.3441C>G (p.Gly1147=) c.2223C>G (p.Gly741=) | |
| 15 | g.73322652G= | CA2187186380 | HCN4 | c.3441C= (p.Gly1147=) c.2223C= (p.Gly741=) | |
| 15 | g.73322652G>T | CA491478052 | HCN4 | c.3441C>A (p.Gly1147=) c.2223C>A (p.Gly741=) | gnomAD v4 COSMIC |
| 15 | g.73322653C>A | CA393085302 | HCN4 | c.3440G>T (p.Gly1147Val) c.2222G>T (p.Gly741Val) | |
| 15 | g.73322653C>G | CA393085303 | HCN4 | c.3440G>C (p.Gly1147Ala) c.2222G>C (p.Gly741Ala) | |
| 15 | g.73322653C>T | CA393085305 | HCN4 | c.3440G>A (p.Gly1147Asp) c.2222G>A (p.Gly741Asp) | |
| 15 | g.73322654C>A | CA393085307 | HCN4 | c.3439G>T (p.Gly1147Cys) c.2221G>T (p.Gly741Cys) | gnomAD v4 |
| 15 | g.73322654C= | CA2187186382 | HCN4 | c.3439G= (p.Gly1147=) c.2221G= (p.Gly741=) | |
| 15 | g.73322654C>G | CA393085308 | HCN4 | c.3439G>C (p.Gly1147Arg) c.2221G>C (p.Gly741Arg) | |
| 15 | g.73322654C>T | CA7648823 | HCN4 | c.3439G>A (p.Gly1147Ser) c.2221G>A (p.Gly741Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322655G>A | CA7648824 | HCN4 | c.3438C>T (p.Pro1146=) c.2220C>T (p.Pro740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322655G>C | CA491478057 | HCN4 | c.3438C>G (p.Pro1146=) c.2220C>G (p.Pro740=) | |
| 15 | g.73322655G= | CA2187186385 | HCN4 | c.3438C= (p.Pro1146=) c.2220C= (p.Pro740=) | |
| 15 | g.73322655G>T | CA491478058 | HCN4 | c.3438C>A (p.Pro1146=) c.2220C>A (p.Pro740=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322656G>A | CA393085312 | HCN4 | c.3437C>T (p.Pro1146Leu) c.2219C>T (p.Pro740Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322656G>C | CA393085313 | HCN4 | c.3437C>G (p.Pro1146Arg) c.2219C>G (p.Pro740Arg) | |
| 15 | g.73322656G= | CA2187186387 | HCN4 | c.3437C= (p.Pro1146=) c.2219C= (p.Pro740=) | |
| 15 | g.73322656G>T | CA393085315 | HCN4 | c.3437C>A (p.Pro1146His) c.2219C>A (p.Pro740His) | |
| 15 | g.73322657G>A | CA393085317 | HCN4 | c.3436C>T (p.Pro1146Ser) c.2218C>T (p.Pro740Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73322657G>C | CA393085320 | HCN4 | c.3436C>G (p.Pro1146Ala) c.2218C>G (p.Pro740Ala) | |
| 15 | g.73322657G= | CA2187186390 | HCN4 | c.3436C= (p.Pro1146=) c.2218C= (p.Pro740=) | |
| 15 | g.73322657G>T | CA393085319 | HCN4 | c.3436C>A (p.Pro1146Thr) c.2218C>A (p.Pro740Thr) | gnomAD v4 |
| 15 | g.73322658G>A | CA491478061 | HCN4 | c.3435C>T (p.Ile1145=) c.2217C>T (p.Ile739=) | gnomAD v4 COSMIC |
| 15 | g.73322658G>C | CA393085323 | HCN4 | c.3435C>G (p.Ile1145Met) c.2217C>G (p.Ile739Met) | |
| 15 | g.73322658G>T | CA491478062 | HCN4 | c.3435C>A (p.Ile1145=) c.2217C>A (p.Ile739=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322659A>C | CA393085324 | HCN4 | c.3434T>G (p.Ile1145Ser) c.2216T>G (p.Ile739Ser) | dbSNP gnomAD v4 |
| 15 | g.73322659A>G | CA393085326 | HCN4 | c.3434T>C (p.Ile1145Thr) c.2216T>C (p.Ile739Thr) | gnomAD v4 |
| 15 | g.73322659A>T | CA393085328 | HCN4 | c.3434T>A (p.Ile1145Asn) c.2216T>A (p.Ile739Asn) | |
| 15 | g.73322660T>A | CA393085330 | HCN4 | c.3433A>T (p.Ile1145Phe) c.2215A>T (p.Ile739Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322660T>C | CA393085332 | HCN4 | c.3433A>G (p.Ile1145Val) c.2215A>G (p.Ile739Val) | ClinVar dbSNP |
| 15 | g.73322660T>G | CA393085333 | HCN4 | c.3433A>C (p.Ile1145Leu) c.2215A>C (p.Ile739Leu) | |
| 15 | g.73322660T= | CA2187186392 | HCN4 | c.3433A= (p.Ile1145=) c.2215A= (p.Ile739=) | |
| 15 | g.73322661G>A | CA491478066 | HCN4 | c.3432C>T (p.Ala1144=) c.2214C>T (p.Ala738=) | gnomAD v4 |
| 15 | g.73322661G>C | CA491478067 | HCN4 | c.3432C>G (p.Ala1144=) c.2214C>G (p.Ala738=) | ClinVar dbSNP |
| 15 | g.73322661G= | CA2187186394 | HCN4 | c.3432C= (p.Ala1144=) c.2214C= (p.Ala738=) | |
| 15 | g.73322661G>T | CA491478068 | HCN4 | c.3432C>A (p.Ala1144=) c.2214C>A (p.Ala738=) | |
| 15 | g.73322662G>A | CA393085335 | HCN4 | c.3431C>T (p.Ala1144Val) c.2213C>T (p.Ala738Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322662G>C | CA393085337 | HCN4 | c.3431C>G (p.Ala1144Gly) c.2213C>G (p.Ala738Gly) | |
| 15 | g.73322662G= | CA2187186398 | HCN4 | c.3431C= (p.Ala1144=) c.2213C= (p.Ala738=) | |
| 15 | g.73322662G>T | CA393085338 | HCN4 | c.3431C>A (p.Ala1144Asp) c.2213C>A (p.Ala738Asp) | |
| 15 | g.73322663C>A | CA393085340 | HCN4 | c.3430G>T (p.Ala1144Ser) c.2212G>T (p.Ala738Ser) | |
| 15 | g.73322663C>G | CA393085341 | HCN4 | c.3430G>C (p.Ala1144Pro) c.2212G>C (p.Ala738Pro) | |
| 15 | g.73322663C>T | CA393085343 | HCN4 | c.3430G>A (p.Ala1144Thr) c.2212G>A (p.Ala738Thr) | gnomAD v4 COSMIC |
| 15 | g.73322664A>C | CA491478070 | HCN4 | c.3429T>G (p.Gly1143=) c.2211T>G (p.Gly737=) | |
| 15 | g.73322664A>G | CA491478071 | HCN4 | c.3429T>C (p.Gly1143=) c.2211T>C (p.Gly737=) | |
| 15 | g.73322664A>T | CA491478072 | HCN4 | c.3429T>A (p.Gly1143=) c.2211T>A (p.Gly737=) | |
| 15 | g.73322665C>A | CA393085348 | HCN4 | c.3428G>T (p.Gly1143Val) c.2210G>T (p.Gly737Val) | ClinVar dbSNP |
| 15 | g.73322665C= | CA2187186403 | HCN4 | c.3428G= (p.Gly1143=) c.2210G= (p.Gly737=) | |
| 15 | g.73322665C>G | CA393085345 | HCN4 | c.3428G>C (p.Gly1143Ala) c.2210G>C (p.Gly737Ala) | |
| 15 | g.73322665C>T | CA393085347 | HCN4 | c.3428G>A (p.Gly1143Asp) c.2210G>A (p.Gly737Asp) | |
| 15 | g.73322666C>A | CA393085349 | HCN4 | c.3427G>T (p.Gly1143Cys) c.2209G>T (p.Gly737Cys) | |
| 15 | g.73322666C>G | CA393085350 | HCN4 | c.3427G>C (p.Gly1143Arg) c.2209G>C (p.Gly737Arg) | |
| 15 | g.73322666C>T | CA393085351 | HCN4 | c.3427G>A (p.Gly1143Ser) c.2209G>A (p.Gly737Ser) | |
| 15 | g.73322667A>C | CA393085352 | HCN4 | c.3426T>G (p.Tyr1142Ter) c.2208T>G (p.Tyr736Ter) | ClinVar |
| 15 | g.73322667A>G | CA491478075 | HCN4 | c.3426T>C (p.Tyr1142=) c.2208T>C (p.Tyr736=) | |
| 15 | g.73322667A>T | CA393085353 | HCN4 | c.3426T>A (p.Tyr1142Ter) c.2208T>A (p.Tyr736Ter) | |
| 15 | g.73322668T>A | CA393085354 | HCN4 | c.3425A>T (p.Tyr1142Phe) c.2207A>T (p.Tyr736Phe) | |
| 15 | g.73322668T>C | CA393085355 | HCN4 | c.3425A>G (p.Tyr1142Cys) c.2207A>G (p.Tyr736Cys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322668T>G | CA393085356 | HCN4 | c.3425A>C (p.Tyr1142Ser) c.2207A>C (p.Tyr736Ser) | |
| 15 | g.73322668T= | CA2187186404 | HCN4 | c.3425A= (p.Tyr1142=) c.2207A= (p.Tyr736=) | |
| 15 | g.73322669A>C | CA393085357 | HCN4 | c.3424T>G (p.Tyr1142Asp) c.2206T>G (p.Tyr736Asp) | |
| 15 | g.73322669A>G | CA393085358 | HCN4 | c.3424T>C (p.Tyr1142His) c.2206T>C (p.Tyr736His) | gnomAD v4 |
| 15 | g.73322669A>T | CA393085359 | HCN4 | c.3424T>A (p.Tyr1142Asn) c.2206T>A (p.Tyr736Asn) | |
| 15 | g.73322670G>A | CA491478077 | HCN4 | c.3423C>T (p.Pro1141=) c.2205C>T (p.Pro735=) | |
| 15 | g.73322670G>C | CA272663213 | HCN4 | c.3423C>G (p.Pro1141=) c.2205C>G (p.Pro735=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322670G= | CA2187186409 | HCN4 | c.3423C= (p.Pro1141=) c.2205C= (p.Pro735=) | |
| 15 | g.73322670G>T | CA491478078 | HCN4 | c.3423C>A (p.Pro1141=) c.2205C>A (p.Pro735=) | gnomAD v4 |
| 15 | g.73322671G>A | CA393085360 | HCN4 | c.3422C>T (p.Pro1141Leu) c.2204C>T (p.Pro735Leu) | |
| 15 | g.73322671G>C | CA393085362 | HCN4 | c.3422C>G (p.Pro1141Arg) c.2204C>G (p.Pro735Arg) | |
| 15 | g.73322671G>T | CA393085361 | HCN4 | c.3422C>A (p.Pro1141His) c.2204C>A (p.Pro735His) | |
| 15 | g.73322672G>A | CA7648825 | HCN4 | c.3421C>T (p.Pro1141Ser) c.2203C>T (p.Pro735Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322672G>C | CA393085364 | HCN4 | c.3421C>G (p.Pro1141Ala) c.2203C>G (p.Pro735Ala) | gnomAD v4 |
| 15 | g.73322672G= | CA2187186412 | HCN4 | c.3421C= (p.Pro1141=) c.2203C= (p.Pro735=) | |
| 15 | g.73322672G>T | CA393085363 | HCN4 | c.3421C>A (p.Pro1141Thr) c.2203C>A (p.Pro735Thr) | gnomAD v4 |
| 15 | g.73322673C>A | CA393085365 | HCN4 | c.3420G>T (p.Arg1140Ser) c.2202G>T (p.Arg734Ser) | gnomAD v4 |
| 15 | g.73322673C>G | CA393085366 | HCN4 | c.3420G>C (p.Arg1140Ser) c.2202G>C (p.Arg734Ser) | |
| 15 | g.73322673C>T | CA491478082 | HCN4 | c.3420G>A (p.Arg1140=) c.2202G>A (p.Arg734=) | gnomAD v4 |
| 15 | g.73322674C>A | CA393085367 | HCN4 | c.3419G>T (p.Arg1140Met) c.2201G>T (p.Arg734Met) | |
| 15 | g.73322674C>G | CA393085368 | HCN4 | c.3419G>C (p.Arg1140Thr) c.2201G>C (p.Arg734Thr) | |
| 15 | g.73322674C>T | CA393085369 | HCN4 | c.3419G>A (p.Arg1140Lys) c.2201G>A (p.Arg734Lys) | ClinVar |
| 15 | g.73322675T>A | CA393085370 | HCN4 | c.3418A>T (p.Arg1140Trp) c.2200A>T (p.Arg734Trp) | |
| 15 | g.73322675T>C | CA393085371 | HCN4 | c.3418A>G (p.Arg1140Gly) c.2200A>G (p.Arg734Gly) | |
| 15 | g.73322675T>G | CA491478083 | HCN4 | c.3418A>C (p.Arg1140=) c.2200A>C (p.Arg734=) | |
| 15 | g.73322676C>A | CA491478085 | HCN4 | c.3417G>T (p.Gly1139=) c.2199G>T (p.Gly733=) | |
| 15 | g.73322676C>G | CA491478086 | HCN4 | c.3417G>C (p.Gly1139=) c.2199G>C (p.Gly733=) | |
| 15 | g.73322676C>T | CA491478087 | HCN4 | c.3417G>A (p.Gly1139=) c.2199G>A (p.Gly733=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322676_73322677insGGT | CA2804726811 | HCN4 | c.3416_3417insACC (p.Gly1139_Arg1140insPro) c.2198_2199insACC (p.Gly733_Arg734insPro) | |
| 15 | g.73322677C>A | CA393085372 | HCN4 | c.3416G>T (p.Gly1139Val) c.2198G>T (p.Gly733Val) | |
| 15 | g.73322677C>G | CA393085373 | HCN4 | c.3416G>C (p.Gly1139Ala) c.2198G>C (p.Gly733Ala) | |
| 15 | g.73322677C>T | CA393085374 | HCN4 | c.3416G>A (p.Gly1139Glu) c.2198G>A (p.Gly733Glu) | COSMIC |
| 15 | g.73322678C>A | CA393085375 | HCN4 | c.3415G>T (p.Gly1139Trp) c.2197G>T (p.Gly733Trp) | |
| 15 | g.73322678C>G | CA393085376 | HCN4 | c.3415G>C (p.Gly1139Arg) c.2197G>C (p.Gly733Arg) | |
| 15 | g.73322678C>T | CA393085377 | HCN4 | c.3415G>A (p.Gly1139Arg) c.2197G>A (p.Gly733Arg) | |
| 15 | g.73322678_73322679delinsCA | CA2187186415 | HCN4 | c.3414_3415delinsTG (p.Pro1138=) c.2196_2197delinsTG (p.Pro732=) | |
| 15 | g.73322679del | CA7648826 | HCN4 | c.3414del (p.Arg1140GlyfsTer?) c.2196del (p.Arg734GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322679A>C | CA491478091 | HCN4 | c.3414T>G (p.Pro1138=) c.2196T>G (p.Pro732=) | |
| 15 | g.73322679A>G | CA491478093 | HCN4 | c.3414T>C (p.Pro1138=) c.2196T>C (p.Pro732=) | |
| 15 | g.73322679A>T | CA491478094 | HCN4 | c.3414T>A (p.Pro1138=) c.2196T>A (p.Pro732=) |