OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.73323790del | CA2575783836 | HCN4 | c.2307del (p.Thr770ArgfsTer8) c.1089del (p.Thr364ArgfsTer8) | |
| 15 | g.73323790G>A | CA393089153 | HCN4 | c.2303C>T (p.Thr768Ile) c.1085C>T (p.Thr362Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323790G>C | CA393089154 | HCN4 | c.2303C>G (p.Thr768Ser) c.1085C>G (p.Thr362Ser) | |
| 15 | g.73323790G= | CA2187188655 | HCN4 | c.2303C= (p.Thr768=) c.1085C= (p.Thr362=) | |
| 15 | g.73323790G>T | CA393089155 | HCN4 | c.2303C>A (p.Thr768Asn) c.1085C>A (p.Thr362Asn) | gnomAD v4 |
| 15 | g.73323791T>A | CA393089156 | HCN4 | c.2302A>T (p.Thr768Ser) c.1084A>T (p.Thr362Ser) | |
| 15 | g.73323791T>C | CA393089157 | HCN4 | c.2302A>G (p.Thr768Ala) c.1084A>G (p.Thr362Ala) | gnomAD v4 |
| 15 | g.73323791T>G | CA393089158 | HCN4 | c.2302A>C (p.Thr768Pro) c.1084A>C (p.Thr362Pro) | |
| 15 | g.73323792T>A | CA491478345 | HCN4 | c.2301A>T (p.Pro767=) c.1083A>T (p.Pro361=) | |
| 15 | g.73323792T>C | CA491478347 | HCN4 | c.2301A>G (p.Pro767=) c.1083A>G (p.Pro361=) | |
| 15 | g.73323792T>G | CA491478348 | HCN4 | c.2301A>C (p.Pro767=) c.1083A>C (p.Pro361=) | |
| 15 | g.73323792_73323793del | CA2629370794 | HCN4 | c.2300_2301del (p.Pro767HisfsTer?) c.1082_1083del (p.Pro361HisfsTer?) | gnomAD v4 |
| 15 | g.73323793G>A | CA393089160 | HCN4 | c.2300C>T (p.Pro767Leu) c.1082C>T (p.Pro361Leu) | |
| 15 | g.73323793G>C | CA393089161 | HCN4 | c.2300C>G (p.Pro767Arg) c.1082C>G (p.Pro361Arg) | |
| 15 | g.73323793G>T | CA393089159 | HCN4 | c.2300C>A (p.Pro767Gln) c.1082C>A (p.Pro361Gln) | gnomAD v4 |
| 15 | g.73323796del | CA2629370796 | HCN4 | c.2300del (p.Pro767GlnfsTer11) c.1082del (p.Pro361GlnfsTer11) | gnomAD v4 |
| 15 | g.73323794G>A | CA393089162 | HCN4 | c.2299C>T (p.Pro767Ser) c.1081C>T (p.Pro361Ser) | |
| 15 | g.73323794G>C | CA393089163 | HCN4 | c.2299C>G (p.Pro767Ala) c.1081C>G (p.Pro361Ala) | |
| 15 | g.73323794G>T | CA393089164 | HCN4 | c.2299C>A (p.Pro767Thr) c.1081C>A (p.Pro361Thr) | gnomAD v4 |
| 15 | g.73323795G>A | CA491478354 | HCN4 | c.2298C>T (p.Thr766=) c.1080C>T (p.Thr360=) | gnomAD v4 |
| 15 | g.73323795G>C | CA491478355 | HCN4 | c.2298C>G (p.Thr766=) c.1080C>G (p.Thr360=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323795G= | CA2187188656 | HCN4 | c.2298C= (p.Thr766=) c.1080C= (p.Thr360=) | |
| 15 | g.73323795G>T | CA491478357 | HCN4 | c.2298C>A (p.Thr766=) c.1080C>A (p.Thr360=) | gnomAD v4 |
| 15 | g.73323796G>A | CA393089165 | HCN4 | c.2297C>T (p.Thr766Ile) c.1079C>T (p.Thr360Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323796G>C | CA393089166 | HCN4 | c.2297C>G (p.Thr766Ser) c.1079C>G (p.Thr360Ser) | |
| 15 | g.73323796G= | CA2187188657 | HCN4 | c.2297C= (p.Thr766=) c.1079C= (p.Thr360=) | |
| 15 | g.73323796G>T | CA393089167 | HCN4 | c.2297C>A (p.Thr766Asn) c.1079C>A (p.Thr360Asn) | gnomAD v4 |
| 15 | g.73323797T>A | CA393089168 | HCN4 | c.2296A>T (p.Thr766Ser) c.1078A>T (p.Thr360Ser) | |
| 15 | g.73323797T>C | CA7649055 | HCN4 | c.2296A>G (p.Thr766Ala) c.1078A>G (p.Thr360Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323797T>G | CA393089169 | HCN4 | c.2296A>C (p.Thr766Pro) c.1078A>C (p.Thr360Pro) | |
| 15 | g.73323797T= | CA2187188658 | HCN4 | c.2296A= (p.Thr766=) c.1078A= (p.Thr360=) | |
| 15 | g.73323798G>A | CA491478365 | HCN4 | c.2295C>T (p.Ala765=) c.1077C>T (p.Ala359=) | |
| 15 | g.73323798G>C | CA491478366 | HCN4 | c.2295C>G (p.Ala765=) c.1077C>G (p.Ala359=) | |
| 15 | g.73323798G>T | CA491478367 | HCN4 | c.2295C>A (p.Ala765=) c.1077C>A (p.Ala359=) | gnomAD v4 |
| 15 | g.73323799G>A | CA393089170 | HCN4 | c.2294C>T (p.Ala765Val) c.1076C>T (p.Ala359Val) | gnomAD v4 COSMIC |
| 15 | g.73323799G>C | CA7649056 | HCN4 | c.2294C>G (p.Ala765Gly) c.1076C>G (p.Ala359Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323799G= | CA2187188659 | HCN4 | c.2294C= (p.Ala765=) c.1076C= (p.Ala359=) | |
| 15 | g.73323799G>T | CA393089171 | HCN4 | c.2294C>A (p.Ala765Asp) c.1076C>A (p.Ala359Asp) | gnomAD v4 |
| 15 | g.73323800C>A | CA393089173 | HCN4 | c.2293G>T (p.Ala765Ser) c.1075G>T (p.Ala359Ser) | |
| 15 | g.73323800C>G | CA393089174 | HCN4 | c.2293G>C (p.Ala765Pro) c.1075G>C (p.Ala359Pro) | |
| 15 | g.73323800C>T | CA393089172 | HCN4 | c.2293G>A (p.Ala765Thr) c.1075G>A (p.Ala359Thr) | gnomAD v4 |
| 15 | g.73323801A= | CA2187188660 | HCN4 | c.2292T= (p.Ser764=) c.1074T= (p.Ser358=) | |
| 15 | g.73323801A>C | CA491478375 | HCN4 | c.2292T>G (p.Ser764=) c.1074T>G (p.Ser358=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323801A>G | CA491478377 | HCN4 | c.2292T>C (p.Ser764=) c.1074T>C (p.Ser358=) | gnomAD v4 |
| 15 | g.73323801A>T | CA491478379 | HCN4 | c.2292T>A (p.Ser764=) c.1074T>A (p.Ser358=) | |
| 15 | g.73323802G>A | CA393089175 | HCN4 | c.2291C>T (p.Ser764Phe) c.1073C>T (p.Ser358Phe) | |
| 15 | g.73323802G>C | CA393089176 | HCN4 | c.2291C>G (p.Ser764Cys) c.1073C>G (p.Ser358Cys) | |
| 15 | g.73323802G>T | CA393089177 | HCN4 | c.2291C>A (p.Ser764Tyr) c.1073C>A (p.Ser358Tyr) | gnomAD v4 COSMIC |
| 15 | g.73323803A>C | CA393089178 | HCN4 | c.2290T>G (p.Ser764Ala) c.1072T>G (p.Ser358Ala) | |
| 15 | g.73323803A>G | CA393089179 | HCN4 | c.2290T>C (p.Ser764Pro) c.1072T>C (p.Ser358Pro) | |
| 15 | g.73323803A>T | CA393089180 | HCN4 | c.2290T>A (p.Ser764Thr) c.1072T>A (p.Ser358Thr) | |
| 15 | g.73323804G>A | CA491478391 | HCN4 | c.2289C>T (p.Ala763=) c.1071C>T (p.Ala357=) | |
| 15 | g.73323804G>C | CA491478388 | HCN4 | c.2289C>G (p.Ala763=) c.1071C>G (p.Ala357=) | |
| 15 | g.73323804G>T | CA491478384 | HCN4 | c.2289C>A (p.Ala763=) c.1071C>A (p.Ala357=) | gnomAD v4 |
| 15 | g.73323804_73323810delinsGGCAGCA | CA2187188661 | HCN4 | c.2283_2289delinsTGCTGCC (p.Ala761=) c.1065_1071delinsTGCTGCC (p.Ala355=) | |
| 15 | g.73323805G>A | CA393089181 | HCN4 | c.2288C>T (p.Ala763Val) c.1070C>T (p.Ala357Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323805G>C | CA393089182 | HCN4 | c.2288C>G (p.Ala763Gly) c.1070C>G (p.Ala357Gly) | |
| 15 | g.73323805G= | CA2187188662 | HCN4 | c.2288C= (p.Ala763=) c.1070C= (p.Ala357=) | |
| 15 | g.73323805G>T | CA7649058 | HCN4 | c.2288C>A (p.Ala763Asp) c.1070C>A (p.Ala357Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323807_73323812del | CA7649057 | HCN4 | c.2283_2288del (p.Ala762_Ala763del) c.1065_1070del (p.Ala356_Ala357del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323806C>A | CA393089183 | HCN4 | c.2287G>T (p.Ala763Ser) c.1069G>T (p.Ala357Ser) | |
| 15 | g.73323806C>G | CA393089184 | HCN4 | c.2287G>C (p.Ala763Pro) c.1069G>C (p.Ala357Pro) | |
| 15 | g.73323806C>T | CA393089185 | HCN4 | c.2287G>A (p.Ala763Thr) c.1069G>A (p.Ala357Thr) | gnomAD v4 |
| 15 | g.73323807A= | CA2187188663 | HCN4 | c.2286T= (p.Ala762=) c.1068T= (p.Ala356=) | |
| 15 | g.73323807A>C | CA491478404 | HCN4 | c.2286T>G (p.Ala762=) c.1068T>G (p.Ala356=) | |
| 15 | g.73323807A>G | CA491478401 | HCN4 | c.2286T>C (p.Ala762=) c.1068T>C (p.Ala356=) | ClinVar dbSNP gnomAD v2 |
| 15 | g.73323807A>T | CA491478403 | HCN4 | c.2286T>A (p.Ala762=) c.1068T>A (p.Ala356=) | |
| 15 | g.73323808G>A | CA393089188 | HCN4 | c.2285C>T (p.Ala762Val) c.1067C>T (p.Ala356Val) | gnomAD v4 |
| 15 | g.73323808G>C | CA393089187 | HCN4 | c.2285C>G (p.Ala762Gly) c.1067C>G (p.Ala356Gly) | |
| 15 | g.73323808G>T | CA393089186 | HCN4 | c.2285C>A (p.Ala762Asp) c.1067C>A (p.Ala356Asp) | gnomAD v4 |
| 15 | g.73323809C>A | CA393089189 | HCN4 | c.2284G>T (p.Ala762Ser) c.1066G>T (p.Ala356Ser) | gnomAD v4 |
| 15 | g.73323809C= | CA2187188664 | HCN4 | c.2284G= (p.Ala762=) c.1066G= (p.Ala356=) | |
| 15 | g.73323809C>G | CA393089191 | HCN4 | c.2284G>C (p.Ala762Pro) c.1066G>C (p.Ala356Pro) | |
| 15 | g.73323809C>T | CA393089190 | HCN4 | c.2284G>A (p.Ala762Thr) c.1066G>A (p.Ala356Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323810A= | CA2187188665 | HCN4 | c.2283T= (p.Ala761=) c.1065T= (p.Ala355=) | |
| 15 | g.73323810A>C | CA272664959 | HCN4 | c.2283T>G (p.Ala761=) c.1065T>G (p.Ala355=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323810A>G | CA491478415 | HCN4 | c.2283T>C (p.Ala761=) c.1065T>C (p.Ala355=) | |
| 15 | g.73323810A>T | CA491478414 | HCN4 | c.2283T>A (p.Ala761=) c.1065T>A (p.Ala355=) | |
| 15 | g.73323811G>A | CA393089192 | HCN4 | c.2282C>T (p.Ala761Val) c.1064C>T (p.Ala355Val) | dbSNP |
| 15 | g.73323811G>C | CA393089193 | HCN4 | c.2282C>G (p.Ala761Gly) c.1064C>G (p.Ala355Gly) | |
| 15 | g.73323811G= | CA2187188666 | HCN4 | c.2282C= (p.Ala761=) c.1064C= (p.Ala355=) | |
| 15 | g.73323811G>T | CA393089194 | HCN4 | c.2282C>A (p.Ala761Asp) c.1064C>A (p.Ala355Asp) | gnomAD v4 |
| 15 | g.73323812C>A | CA393089195 | HCN4 | c.2281G>T (p.Ala761Ser) c.1063G>T (p.Ala355Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323812C= | CA2187188667 | HCN4 | c.2281G= (p.Ala761=) c.1063G= (p.Ala355=) | |
| 15 | g.73323812C>G | CA393089196 | HCN4 | c.2281G>C (p.Ala761Pro) c.1063G>C (p.Ala355Pro) | |
| 15 | g.73323812C>T | CA393089197 | HCN4 | c.2281G>A (p.Ala761Thr) c.1063G>A (p.Ala355Thr) | gnomAD v4 |
| 15 | g.73323813C>A | CA393089198 | HCN4 | c.2280G>T (p.Gln760His) c.1062G>T (p.Gln354His) | |
| 15 | g.73323813C>G | CA393089199 | HCN4 | c.2280G>C (p.Gln760His) c.1062G>C (p.Gln354His) | |
| 15 | g.73323813C>T | CA491478423 | HCN4 | c.2280G>A (p.Gln760=) c.1062G>A (p.Gln354=) | |
| 15 | g.73323814T>A | CA393089200 | HCN4 | c.2279A>T (p.Gln760Leu) c.1061A>T (p.Gln354Leu) | |
| 15 | g.73323814T>C | CA393089201 | HCN4 | c.2279A>G (p.Gln760Arg) c.1061A>G (p.Gln354Arg) | dbSNP gnomAD v2 |
| 15 | g.73323814T>G | CA393089202 | HCN4 | c.2279A>C (p.Gln760Pro) c.1061A>C (p.Gln354Pro) | |
| 15 | g.73323814T= | CA2187188668 | HCN4 | c.2279A= (p.Gln760=) c.1061A= (p.Gln354=) | |
| 15 | g.73323815G>A | CA393089205 | HCN4 | c.2278C>T (p.Gln760Ter) c.1060C>T (p.Gln354Ter) | |
| 15 | g.73323815G>C | CA393089204 | HCN4 | c.2278C>G (p.Gln760Glu) c.1060C>G (p.Gln354Glu) | |
| 15 | g.73323815G>T | CA393089203 | HCN4 | c.2278C>A (p.Gln760Lys) c.1060C>A (p.Gln354Lys) | gnomAD v4 |
| 15 | g.73323816G>A | CA491478431 | HCN4 | c.2277C>T (p.Val759=) c.1059C>T (p.Val353=) | |
| 15 | g.73323816G>C | CA491478433 | HCN4 | c.2277C>G (p.Val759=) c.1059C>G (p.Val353=) | |
| 15 | g.73323816G>T | CA491478434 | HCN4 | c.2277C>A (p.Val759=) c.1059C>A (p.Val353=) | gnomAD v4 |
| 15 | g.73323817A>C | CA393089206 | HCN4 | c.2276T>G (p.Val759Gly) c.1058T>G (p.Val353Gly) | |
| 15 | g.73323817A>G | CA393089207 | HCN4 | c.2276T>C (p.Val759Ala) c.1058T>C (p.Val353Ala) | |
| 15 | g.73323817A>T | CA393089208 | HCN4 | c.2276T>A (p.Val759Asp) c.1058T>A (p.Val353Asp) | |
| 15 | g.73323818C>A | CA272664960 | HCN4 | c.2275G>T (p.Val759Phe) c.1057G>T (p.Val353Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323818C= | CA2187188669 | HCN4 | c.2275G= (p.Val759=) c.1057G= (p.Val353=) | |
| 15 | g.73323818C>G | CA393089209 | HCN4 | c.2275G>C (p.Val759Leu) c.1057G>C (p.Val353Leu) | |
| 15 | g.73323818C>T | CA235701 | HCN4 | c.2275G>A (p.Val759Ile) c.1057G>A (p.Val353Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323819G>A | CA7649059 | HCN4 | c.2274C>T (p.Arg758=) c.1056C>T (p.Arg352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323819G>C | CA491478444 | HCN4 | c.2274C>G (p.Arg758=) c.1056C>G (p.Arg352=) | |
| 15 | g.73323819G= | CA2187188670 | HCN4 | c.2274C= (p.Arg758=) c.1056C= (p.Arg352=) | |
| 15 | g.73323819G>T | CA491478445 | HCN4 | c.2274C>A (p.Arg758=) c.1056C>A (p.Arg352=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323822_73323826del | CA2580089996 | HCN4 | c.2270_2274del (p.His757ArgfsTer?) c.1052_1056del (p.His351ArgfsTer?) | ClinVar |
| 15 | g.73323820C>A | CA393089210 | HCN4 | c.2273G>T (p.Arg758Leu) c.1055G>T (p.Arg352Leu) | gnomAD v4 |
| 15 | g.73323820C= | CA2187188671 | HCN4 | c.2273G= (p.Arg758=) c.1055G= (p.Arg352=) | |
| 15 | g.73323820C>G | CA393089211 | HCN4 | c.2273G>C (p.Arg758Pro) c.1055G>C (p.Arg352Pro) | |
| 15 | g.73323820C>T | CA247665 | HCN4 | c.2273G>A (p.Arg758His) c.1055G>A (p.Arg352His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323821G>A | CA7649060 | HCN4 | c.2272C>T (p.Arg758Cys) c.1054C>T (p.Arg352Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323821G>C | CA393089212 | HCN4 | c.2272C>G (p.Arg758Gly) c.1054C>G (p.Arg352Gly) | |
| 15 | g.73323821G= | CA2187188672 | HCN4 | c.2272C= (p.Arg758=) c.1054C= (p.Arg352=) | |
| 15 | g.73323821G>T | CA393089213 | HCN4 | c.2272C>A (p.Arg758Ser) c.1054C>A (p.Arg352Ser) | gnomAD v4 |
| 15 | g.73323822G>A | CA491478451 | HCN4 | c.2271C>T (p.His757=) c.1053C>T (p.His351=) | ClinVar dbSNP |
| 15 | g.73323822G>C | CA393089214 | HCN4 | c.2271C>G (p.His757Gln) c.1053C>G (p.His351Gln) | |
| 15 | g.73323822G>T | CA393089215 | HCN4 | c.2271C>A (p.His757Gln) c.1053C>A (p.His351Gln) | gnomAD v4 |
| 15 | g.73323823T>A | CA393089216 | HCN4 | c.2270A>T (p.His757Leu) c.1052A>T (p.His351Leu) | |
| 15 | g.73323823T>C | CA393089217 | HCN4 | c.2270A>G (p.His757Arg) c.1052A>G (p.His351Arg) | gnomAD v4 |
| 15 | g.73323823T>G | CA7649061 | HCN4 | c.2270A>C (p.His757Pro) c.1052A>C (p.His351Pro) | dbSNP ExAC gnomAD v4 |
| 15 | g.73323823T= | CA2187188673 | HCN4 | c.2270A= (p.His757=) c.1052A= (p.His351=) | |
| 15 | g.73323824G>A | CA7649062 | HCN4 | c.2269C>T (p.His757Tyr) c.1051C>T (p.His351Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323824G>C | CA393089218 | HCN4 | c.2269C>G (p.His757Asp) c.1051C>G (p.His351Asp) | |
| 15 | g.73323824G= | CA2187188674 | HCN4 | c.2269C= (p.His757=) c.1051C= (p.His351=) | |
| 15 | g.73323824G>T | CA393089219 | HCN4 | c.2269C>A (p.His757Asn) c.1051C>A (p.His351Asn) | gnomAD v4 |
| 15 | g.73323825C>A | CA491478464 | HCN4 | c.2268G>T (p.Ala756=) c.1050G>T (p.Ala350=) | dbSNP gnomAD v2 COSMIC |
| 15 | g.73323825C= | CA2187188675 | HCN4 | c.2268G= (p.Ala756=) c.1050G= (p.Ala350=) | |
| 15 | g.73323825C>G | CA491478466 | HCN4 | c.2268G>C (p.Ala756=) c.1050G>C (p.Ala350=) | |
| 15 | g.73323825C>T | CA7649063 | HCN4 | c.2268G>A (p.Ala756=) c.1050G>A (p.Ala350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323826G>A | CA393089220 | HCN4 | c.2267C>T (p.Ala756Val) c.1049C>T (p.Ala350Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73323826G>C | CA393089221 | HCN4 | c.2267C>G (p.Ala756Gly) c.1049C>G (p.Ala350Gly) | |
| 15 | g.73323826G= | CA2187188676 | HCN4 | c.2267C= (p.Ala756=) c.1049C= (p.Ala350=) | |
| 15 | g.73323826G>T | CA7649064 | HCN4 | c.2267C>A (p.Ala756Glu) c.1049C>A (p.Ala350Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323827C>A | CA393089222 | HCN4 | c.2266G>T (p.Ala756Ser) c.1048G>T (p.Ala350Ser) | |
| 15 | g.73323827C= | CA2187188677 | HCN4 | c.2266G= (p.Ala756=) c.1048G= (p.Ala350=) | |
| 15 | g.73323827C>G | CA393089223 | HCN4 | c.2266G>C (p.Ala756Pro) c.1048G>C (p.Ala350Pro) | |
| 15 | g.73323827C>T | CA7649065 | HCN4 | c.2266G>A (p.Ala756Thr) c.1048G>A (p.Ala350Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73323828G>A | CA16614920 | HCN4 | c.2265C>T (p.Cys755=) c.1047C>T (p.Cys349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323828G>C | CA393089225 | HCN4 | c.2265C>G (p.Cys755Trp) c.1047C>G (p.Cys349Trp) | |
| 15 | g.73323828G= | CA2187188678 | HCN4 | c.2265C= (p.Cys755=) c.1047C= (p.Cys349=) | |
| 15 | g.73323828G>T | CA393089224 | HCN4 | c.2265C>A (p.Cys755Ter) c.1047C>A (p.Cys349Ter) | gnomAD v4 |
| 15 | g.73323829C>A | CA393089226 | HCN4 | c.2264G>T (p.Cys755Phe) c.1046G>T (p.Cys349Phe) | |
| 15 | g.73323829C>G | CA393089227 | HCN4 | c.2264G>C (p.Cys755Ser) c.1046G>C (p.Cys349Ser) | |
| 15 | g.73323829C>T | CA393089228 | HCN4 | c.2264G>A (p.Cys755Tyr) c.1046G>A (p.Cys349Tyr) | |
| 15 | g.73323830A>C | CA393089229 | HCN4 | c.2263T>G (p.Cys755Gly) c.1045T>G (p.Cys349Gly) | |
| 15 | g.73323830A>G | CA393089230 | HCN4 | c.2263T>C (p.Cys755Arg) c.1045T>C (p.Cys349Arg) | |
| 15 | g.73323830A>T | CA393089231 | HCN4 | c.2263T>A (p.Cys755Ser) c.1045T>A (p.Cys349Ser) | |
| 15 | g.73323831G>A | CA7649066 | HCN4 | c.2262C>T (p.His754=) c.1044C>T (p.His348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323831G>C | CA393089232 | HCN4 | c.2262C>G (p.His754Gln) c.1044C>G (p.His348Gln) | gnomAD v4 |
| 15 | g.73323831G= | CA2187188679 | HCN4 | c.2262C= (p.His754=) c.1044C= (p.His348=) | |
| 15 | g.73323831G>T | CA393089233 | HCN4 | c.2262C>A (p.His754Gln) c.1044C>A (p.His348Gln) | gnomAD v4 |
| 15 | g.73323832T>A | CA393089234 | HCN4 | c.2261A>T (p.His754Leu) c.1043A>T (p.His348Leu) | |
| 15 | g.73323832T>C | CA353926 | HCN4 | c.2261A>G (p.His754Arg) c.1043A>G (p.His348Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323832T>G | CA393089235 | HCN4 | c.2261A>C (p.His754Pro) c.1043A>C (p.His348Pro) | |
| 15 | g.73323832T= | CA2187188680 | HCN4 | c.2261A= (p.His754=) c.1043A= (p.His348=) | |
| 15 | g.73323833G>A | CA393089238 | HCN4 | c.2260C>T (p.His754Tyr) c.1042C>T (p.His348Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323833G>C | CA393089237 | HCN4 | c.2260C>G (p.His754Asp) c.1042C>G (p.His348Asp) | |
| 15 | g.73323833G= | CA2187188681 | HCN4 | c.2260C= (p.His754=) c.1042C= (p.His348=) | |
| 15 | g.73323833G>T | CA393089236 | HCN4 | c.2260C>A (p.His754Asn) c.1042C>A (p.His348Asn) | gnomAD v4 |
| 15 | g.73323834G>A | CA491478483 | HCN4 | c.2259C>T (p.Ala753=) c.1041C>T (p.Ala347=) | |
| 15 | g.73323834G>C | CA491478485 | HCN4 | c.2259C>G (p.Ala753=) c.1041C>G (p.Ala347=) | |
| 15 | g.73323834G>T | CA491478489 | HCN4 | c.2259C>A (p.Ala753=) c.1041C>A (p.Ala347=) | gnomAD v4 |
| 15 | g.73323835G>A | CA393089239 | HCN4 | c.2258C>T (p.Ala753Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323835G>C | CA393089241 | HCN4 | c.2258C>G (p.Ala753Gly) c.1040C>G (p.Ala347Gly) | |
| 15 | g.73323835G= | CA2187188683 | HCN4 | c.2258C= (p.Ala753=) c.1040C= (p.Ala347=) | |
| 15 | g.73323835G>T | CA393089240 | HCN4 | c.2258C>A (p.Ala753Asp) c.1040C>A (p.Ala347Asp) | gnomAD v4 |
| 15 | g.73323836C>A | CA393089242 | HCN4 | c.2257G>T (p.Ala753Ser) c.1039G>T (p.Ala347Ser) | |
| 15 | g.73323836C= | CA2187188684 | HCN4 | c.2257G= (p.Ala753=) c.1039G= (p.Ala347=) | |
| 15 | g.73323836C>G | CA393089244 | HCN4 | c.2257G>C (p.Ala753Pro) c.1039G>C (p.Ala347Pro) | |
| 15 | g.73323836C>T | CA393089243 | HCN4 | c.2257G>A (p.Ala753Thr) c.1039G>A (p.Ala347Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323837C>A | CA393089245 | HCN4 | c.2256G>T (p.Met752Ile) c.1038G>T (p.Met346Ile) | |
| 15 | g.73323837C>G | CA393089246 | HCN4 | c.2256G>C (p.Met752Ile) c.1038G>C (p.Met346Ile) | |
| 15 | g.73323837C>T | CA393089247 | HCN4 | c.2256G>A (p.Met752Ile) c.1038G>A (p.Met346Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73323838A= | CA2187188687 | HCN4 | c.2255T= (p.Met752=) c.1037T= (p.Met346=) | |
| 15 | g.73323838A>C | CA393089248 | HCN4 | c.2255T>G (p.Met752Arg) c.1037T>G (p.Met346Arg) | dbSNP gnomAD v4 |
| 15 | g.73323838A>G | CA7649067 | HCN4 | c.2255T>C (p.Met752Thr) c.1037T>C (p.Met346Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323838A>T | CA393089249 | HCN4 | c.2255T>A (p.Met752Lys) c.1037T>A (p.Met346Lys) | |
| 15 | g.73323839T>A | CA393089250 | HCN4 | c.2254A>T (p.Met752Leu) c.1036A>T (p.Met346Leu) | |
| 15 | g.73323839T>C | CA393089251 | HCN4 | c.2254A>G (p.Met752Val) c.1036A>G (p.Met346Val) | |
| 15 | g.73323839T>G | CA393089252 | HCN4 | c.2254A>C (p.Met752Leu) c.1036A>C (p.Met346Leu) | |
| 15 | g.73323840C>A | CA393089253 | HCN4 | c.2253G>T (p.Glu751Asp) c.1035G>T (p.Glu345Asp) | gnomAD v4 |
| 15 | g.73323840C= | CA2187188691 | HCN4 | c.2253G= (p.Glu751=) c.1035G= (p.Glu345=) | |
| 15 | g.73323840C>G | CA393089254 | HCN4 | c.2253G>C (p.Glu751Asp) c.1035G>C (p.Glu345Asp) | gnomAD v4 |
| 15 | g.73323840C>T | CA491478506 | HCN4 | c.2253G>A (p.Glu751=) c.1035G>A (p.Glu345=) | dbSNP gnomAD v2 |
| 15 | g.73323841T>A | CA393089257 | HCN4 | c.2252A>T (p.Glu751Val) c.1034A>T (p.Glu345Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323841T>C | CA393089256 | HCN4 | c.2252A>G (p.Glu751Gly) c.1034A>G (p.Glu345Gly) | |
| 15 | g.73323841T>G | CA393089255 | HCN4 | c.2252A>C (p.Glu751Ala) c.1034A>C (p.Glu345Ala) | |
| 15 | g.73323841T= | CA2187188695 | HCN4 | c.2252A= (p.Glu751=) c.1034A= (p.Glu345=) | |
| 15 | g.73323842C>A | CA393089258 | HCN4 | c.2251G>T (p.Glu751Ter) c.1033G>T (p.Glu345Ter) | |
| 15 | g.73323842C>G | CA393089259 | HCN4 | c.2251G>C (p.Glu751Gln) c.1033G>C (p.Glu345Gln) | |
| 15 | g.73323842C>T | CA393089260 | HCN4 | c.2251G>A (p.Glu751Lys) c.1033G>A (p.Glu345Lys) | gnomAD v4 COSMIC |
| 15 | g.73323843C>A | CA491478515 | HCN4 | c.2250G>T (p.Arg750=) c.1032G>T (p.Arg344=) | gnomAD v4 |
| 15 | g.73323843C= | CA2187188700 | HCN4 | c.2250G= (p.Arg750=) c.1032G= (p.Arg344=) | |
| 15 | g.73323843C>G | CA491478516 | HCN4 | c.2250G>C (p.Arg750=) c.1032G>C (p.Arg344=) | |
| 15 | g.73323843C>T | CA491478518 | HCN4 | c.2250G>A (p.Arg750=) c.1032G>A (p.Arg344=) | dbSNP gnomAD v2 |
| 15 | g.73323844C>A | CA393089261 | HCN4 | c.2249G>T (p.Arg750Leu) c.1031G>T (p.Arg344Leu) | gnomAD v4 |
| 15 | g.73323844C= | CA2187188701 | HCN4 | c.2249G= (p.Arg750=) c.1031G= (p.Arg344=) | |
| 15 | g.73323844C>G | CA393089262 | HCN4 | c.2249G>C (p.Arg750Pro) c.1031G>C (p.Arg344Pro) | |
| 15 | g.73323844C>T | CA7649068 | HCN4 | c.2249G>A (p.Arg750Gln) c.1031G>A (p.Arg344Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323845G>A | CA393089263 | HCN4 | c.2248C>T (p.Arg750Trp) c.1030C>T (p.Arg344Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323845G>C | CA393089264 | HCN4 | c.2248C>G (p.Arg750Gly) c.1030C>G (p.Arg344Gly) | |
| 15 | g.73323845G= | CA2187188705 | HCN4 | c.2248C= (p.Arg750=) c.1030C= (p.Arg344=) | |
| 15 | g.73323845G>T | CA491478525 | HCN4 | c.2248C>A (p.Arg750=) c.1030C>A (p.Arg344=) | gnomAD v4 |
| 15 | g.73323846G>A | CA7649069 | HCN4 | c.2247C>T (p.Asp749=) c.1029C>T (p.Asp343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323846G>C | CA393089265 | HCN4 | c.2247C>G (p.Asp749Glu) c.1029C>G (p.Asp343Glu) | |
| 15 | g.73323846G= | CA2187188707 | HCN4 | c.2247C= (p.Asp749=) c.1029C= (p.Asp343=) | |
| 15 | g.73323846G>T | CA393089266 | HCN4 | c.2247C>A (p.Asp749Glu) c.1029C>A (p.Asp343Glu) | gnomAD v4 |
| 15 | g.73323847T>A | CA393089269 | HCN4 | c.2246A>T (p.Asp749Val) c.1028A>T (p.Asp343Val) | |
| 15 | g.73323847T>C | CA393089268 | HCN4 | c.2246A>G (p.Asp749Gly) c.1028A>G (p.Asp343Gly) | |
| 15 | g.73323847T>G | CA393089267 | HCN4 | c.2246A>C (p.Asp749Ala) c.1028A>C (p.Asp343Ala) | |
| 15 | g.73323848C>A | CA393089270 | HCN4 | c.2245G>T (p.Asp749Tyr) c.1027G>T (p.Asp343Tyr) | |
| 15 | g.73323848C>G | CA393089271 | HCN4 | c.2245G>C (p.Asp749His) c.1027G>C (p.Asp343His) | |
| 15 | g.73323848C>T | CA393089272 | HCN4 | c.2245G>A (p.Asp749Asn) c.1027G>A (p.Asp343Asn) | |
| 15 | g.73323849A= | CA2187188708 | HCN4 | c.2244T= (p.His748=) c.1026T= (p.His342=) | |
| 15 | g.73323849A>C | CA393089274 | HCN4 | c.2244T>G (p.His748Gln) c.1026T>G (p.His342Gln) | |
| 15 | g.73323849A>G | CA7649070 | HCN4 | c.2244T>C (p.His748=) c.1026T>C (p.His342=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323849A>T | CA393089277 | HCN4 | c.2244T>A (p.His748Gln) c.1026T>A (p.His342Gln) | |
| 15 | g.73323850T>A | CA7649071 | HCN4 | c.2243A>T (p.His748Leu) c.1025A>T (p.His342Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323850T>C | CA393089278 | HCN4 | c.2243A>G (p.His748Arg) c.1025A>G (p.His342Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323850T>G | CA393089279 | HCN4 | c.2243A>C (p.His748Pro) c.1025A>C (p.His342Pro) | |
| 15 | g.73323850T= | CA2187188709 | HCN4 | c.2243A= (p.His748=) c.1025A= (p.His342=) | |
| 15 | g.73323851G>A | CA393089283 | HCN4 | c.2242C>T (p.His748Tyr) c.1024C>T (p.His342Tyr) | gnomAD v4 |
| 15 | g.73323851G>C | CA393089284 | HCN4 | c.2242C>G (p.His748Asp) c.1024C>G (p.His342Asp) | |
| 15 | g.73323851G>T | CA393089285 | HCN4 | c.2242C>A (p.His748Asn) c.1024C>A (p.His342Asn) | |
| 15 | g.73323852C>A | CA393089287 | HCN4 | c.2241G>T (p.Gln747His) c.1023G>T (p.Gln341His) | dbSNP gnomAD v4 |
| 15 | g.73323852C= | CA2187188711 | HCN4 | c.2241G= (p.Gln747=) c.1023G= (p.Gln341=) | |
| 15 | g.73323852C>G | CA393089289 | HCN4 | c.2241G>C (p.Gln747His) c.1023G>C (p.Gln341His) | |
| 15 | g.73323852C>T | CA491478552 | HCN4 | c.2241G>A (p.Gln747=) c.1023G>A (p.Gln341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73323853T>A | CA393089291 | HCN4 | c.2240A>T (p.Gln747Leu) c.1022A>T (p.Gln341Leu) | |
| 15 | g.73323853T>C | CA393089294 | HCN4 | c.2240A>G (p.Gln747Arg) c.1022A>G (p.Gln341Arg) | dbSNP |
| 15 | g.73323853T>G | CA393089292 | HCN4 | c.2240A>C (p.Gln747Pro) c.1022A>C (p.Gln341Pro) | |
| 15 | g.73323853T= | CA2187188712 | HCN4 | c.2240A= (p.Gln747=) c.1022A= (p.Gln341=) | |
| 15 | g.73323854G>A | CA393089296 | HCN4 | c.2239C>T (p.Gln747Ter) c.1021C>T (p.Gln341Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323854G>C | CA393089298 | HCN4 | c.2239C>G (p.Gln747Glu) c.1021C>G (p.Gln341Glu) | |
| 15 | g.73323854G= | CA2187188714 | HCN4 | c.2239C= (p.Gln747=) c.1021C= (p.Gln341=) | |
| 15 | g.73323854G>T | CA393089299 | HCN4 | c.2239C>A (p.Gln747Lys) c.1021C>A (p.Gln341Lys) | gnomAD v4 |
| 15 | g.73323855C>A | CA491478557 | HCN4 | c.2238G>T (p.Val746=) c.1020G>T (p.Val340=) | |
| 15 | g.73323855C>G | CA491478560 | HCN4 | c.2238G>C (p.Val746=) c.1020G>C (p.Val340=) | |
| 15 | g.73323855C>T | CA491478562 | HCN4 | c.2238G>A (p.Val746=) c.1020G>A (p.Val340=) | ClinVar |
| 15 | g.73323856A= | CA2187188717 | HCN4 | c.2237T= (p.Val746=) c.1019T= (p.Val340=) | |
| 15 | g.73323856A>C | CA393089302 | HCN4 | c.2237T>G (p.Val746Gly) c.1019T>G (p.Val340Gly) | |
| 15 | g.73323856A>G | CA393089303 | HCN4 | c.2237T>C (p.Val746Ala) c.1019T>C (p.Val340Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323856A>T | CA393089305 | HCN4 | c.2237T>A (p.Val746Glu) c.1019T>A (p.Val340Glu) | |
| 15 | g.73323857C>A | CA393089307 | HCN4 | c.2236G>T (p.Val746Leu) c.1018G>T (p.Val340Leu) | |
| 15 | g.73323857C>G | CA393089309 | HCN4 | c.2236G>C (p.Val746Leu) c.1018G>C (p.Val340Leu) | |
| 15 | g.73323857C>T | CA393089310 | HCN4 | c.2236G>A (p.Val746Met) c.1018G>A (p.Val340Met) | |
| 15 | g.73323858A= | CA2187188721 | HCN4 | c.2235T= (p.Ile745=) c.1017T= (p.Ile339=) | |
| 15 | g.73323858A>C | CA393089312 | HCN4 | c.2235T>G (p.Ile745Met) c.1017T>G (p.Ile339Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323858A>G | CA491478569 | HCN4 | c.2235T>C (p.Ile745=) c.1017T>C (p.Ile339=) | |
| 15 | g.73323858A>T | CA491478572 | HCN4 | c.2235T>A (p.Ile745=) c.1017T>A (p.Ile339=) | ClinVar |
| 15 | g.73323859A>C | CA393089316 | HCN4 | c.2234T>G (p.Ile745Ser) c.1016T>G (p.Ile339Ser) | |
| 15 | g.73323859A>G | CA393089315 | HCN4 | c.2234T>C (p.Ile745Thr) c.1016T>C (p.Ile339Thr) | |
| 15 | g.73323859A>T | CA393089314 | HCN4 | c.2234T>A (p.Ile745Asn) c.1016T>A (p.Ile339Asn) | |
| 15 | g.73323860T>A | CA393089318 | HCN4 | c.2233A>T (p.Ile745Phe) c.1015A>T (p.Ile339Phe) | |
| 15 | g.73323860T>C | CA393089320 | HCN4 | c.2233A>G (p.Ile745Val) c.1015A>G (p.Ile339Val) | |
| 15 | g.73323860T>G | CA393089322 | HCN4 | c.2233A>C (p.Ile745Leu) c.1015A>C (p.Ile339Leu) | |
| 15 | g.73323861C>A | CA7649072 | HCN4 | c.2232G>T (p.Gln744His) c.1014G>T (p.Gln338His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323861C= | CA2187188723 | HCN4 | c.2232G= (p.Gln744=) c.1014G= (p.Gln338=) | |
| 15 | g.73323861C>G | CA393089324 | HCN4 | c.2232G>C (p.Gln744His) c.1014G>C (p.Gln338His) | |
| 15 | g.73323861C>T | CA491478579 | HCN4 | c.2232G>A (p.Gln744=) c.1014G>A (p.Gln338=) | |
| 15 | g.73323862T>A | CA393089325 | HCN4 | c.2231A>T (p.Gln744Leu) c.1013A>T (p.Gln338Leu) | |
| 15 | g.73323862T>C | CA393089326 | HCN4 | c.2231A>G (p.Gln744Arg) c.1013A>G (p.Gln338Arg) | |
| 15 | g.73323862T>G | CA393089328 | HCN4 | c.2231A>C (p.Gln744Pro) c.1013A>C (p.Gln338Pro) | |
| 15 | g.73323863G>A | CA393089329 | HCN4 | c.2230C>T (p.Gln744Ter) c.1012C>T (p.Gln338Ter) | gnomAD v4 |
| 15 | g.73323863G>C | CA393089331 | HCN4 | c.2230C>G (p.Gln744Glu) c.1012C>G (p.Gln338Glu) | |
| 15 | g.73323863G>T | CA393089333 | HCN4 | c.2230C>A (p.Gln744Lys) c.1012C>A (p.Gln338Lys) | gnomAD v4 |
| 15 | g.73323864C>A | CA393089335 | HCN4 | c.2229G>T (p.Gln743His) c.1011G>T (p.Gln337His) | COSMIC |
| 15 | g.73323864C>G | CA393089336 | HCN4 | c.2229G>C (p.Gln743His) c.1011G>C (p.Gln337His) | gnomAD v4 |
| 15 | g.73323864C>T | CA491478590 | HCN4 | c.2229G>A (p.Gln743=) c.1011G>A (p.Gln337=) | gnomAD v4 |
| 15 | g.73323865T>A | CA393089341 | HCN4 | c.2228A>T (p.Gln743Leu) c.1010A>T (p.Gln337Leu) | |
| 15 | g.73323865T>C | CA393089340 | HCN4 | c.2228A>G (p.Gln743Arg) c.1010A>G (p.Gln337Arg) | |
| 15 | g.73323865T>G | CA393089338 | HCN4 | c.2228A>C (p.Gln743Pro) c.1010A>C (p.Gln337Pro) | |
| 15 | g.73323866G>A | CA393089342 | HCN4 | c.2227C>T (p.Gln743Ter) c.1009C>T (p.Gln337Ter) | |
| 15 | g.73323866G>C | CA393089344 | HCN4 | c.2227C>G (p.Gln743Glu) c.1009C>G (p.Gln337Glu) | |
| 15 | g.73323866G>T | CA393089346 | HCN4 | c.2227C>A (p.Gln743Lys) c.1009C>A (p.Gln337Lys) | |
| 15 | g.73323867G>A | CA491478595 | HCN4 | c.2226C>T (p.Ile742=) c.1008C>T (p.Ile336=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73323867G>C | CA393089347 | HCN4 | c.2226C>G (p.Ile742Met) c.1008C>G (p.Ile336Met) | |
| 15 | g.73323867G= | CA2187188724 | HCN4 | c.2226C= (p.Ile742=) c.1008C= (p.Ile336=) | |
| 15 | g.73323867G>T | CA491478594 | HCN4 | c.2226C>A (p.Ile742=) c.1008C>A (p.Ile336=) | |
| 15 | g.73323868A>C | CA393089349 | HCN4 | c.2225T>G (p.Ile742Ser) c.1007T>G (p.Ile336Ser) | |
| 15 | g.73323868A>G | CA393089350 | HCN4 | c.2225T>C (p.Ile742Thr) c.1007T>C (p.Ile336Thr) | gnomAD v4 |
| 15 | g.73323868A>T | CA393089352 | HCN4 | c.2225T>A (p.Ile742Asn) c.1007T>A (p.Ile336Asn) | |
| 15 | g.73323869T>A | CA393089354 | HCN4 | c.2224A>T (p.Ile742Phe) c.1006A>T (p.Ile336Phe) | |
| 15 | g.73323869T>C | CA393089355 | HCN4 | c.2224A>G (p.Ile742Val) c.1006A>G (p.Ile336Val) | |
| 15 | g.73323869T>G | CA393089357 | HCN4 | c.2224A>C (p.Ile742Leu) c.1006A>C (p.Ile336Leu) | gnomAD v4 |
| 15 | g.73323870G>A | CA491478603 | HCN4 | c.2223C>T (p.Ile741=) c.1005C>T (p.Ile335=) | |
| 15 | g.73323870G>C | CA393089358 | HCN4 | c.2223C>G (p.Ile741Met) c.1005C>G (p.Ile335Met) | |
| 15 | g.73323870G>T | CA491478605 | HCN4 | c.2223C>A (p.Ile741=) c.1005C>A (p.Ile335=) | |
| 15 | g.73323871A>C | CA393089360 | HCN4 | c.2222T>G (p.Ile741Ser) c.1004T>G (p.Ile335Ser) | |
| 15 | g.73323871A>G | CA393089362 | HCN4 | c.2222T>C (p.Ile741Thr) c.1004T>C (p.Ile335Thr) | |
| 15 | g.73323871A>T | CA393089364 | HCN4 | c.2222T>A (p.Ile741Asn) c.1004T>A (p.Ile335Asn) | |
| 15 | g.73323872T>A | CA393089367 | HCN4 | c.2221A>T (p.Ile741Phe) c.1003A>T (p.Ile335Phe) | |
| 15 | g.73323872T>C | CA393089369 | HCN4 | c.2221A>G (p.Ile741Val) c.1003A>G (p.Ile335Val) | |
| 15 | g.73323872T>G | CA393089366 | HCN4 | c.2221A>C (p.Ile741Leu) c.1003A>C (p.Ile335Leu) | |
| 15 | g.73323873C>A | CA393089370 | HCN4 | c.2220G>T (p.Glu740Asp) c.1002G>T (p.Glu334Asp) | |
| 15 | g.73323873C= | CA2187188727 | HCN4 | c.2220G= (p.Glu740=) c.1002G= (p.Glu334=) | |
| 15 | g.73323873C>G | CA393089372 | HCN4 | c.2220G>C (p.Glu740Asp) c.1002G>C (p.Glu334Asp) | dbSNP |
| 15 | g.73323873C>T | CA491478614 | HCN4 | c.2220G>A (p.Glu740=) c.1002G>A (p.Glu334=) | gnomAD v4 |
| 15 | g.73323874T>A | CA393089373 | HCN4 | c.2219A>T (p.Glu740Val) c.1001A>T (p.Glu334Val) | |
| 15 | g.73323874T>C | CA393089374 | HCN4 | c.2219A>G (p.Glu740Gly) c.1001A>G (p.Glu334Gly) | |
| 15 | g.73323874T>G | CA393089375 | HCN4 | c.2219A>C (p.Glu740Ala) c.1001A>C (p.Glu334Ala) | gnomAD v4 |
| 15 | g.73323875C>A | CA393089377 | HCN4 | c.2218G>T (p.Glu740Ter) c.1000G>T (p.Glu334Ter) | |
| 15 | g.73323875C= | CA2187188729 | HCN4 | c.2218G= (p.Glu740=) c.1000G= (p.Glu334=) | |
| 15 | g.73323875C>G | CA393089378 | HCN4 | c.2218G>C (p.Glu740Gln) c.1000G>C (p.Glu334Gln) | |
| 15 | g.73323875C>T | CA7649073 | HCN4 | c.2218G>A (p.Glu740Lys) c.1000G>A (p.Glu334Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323876A= | CA2187188731 | HCN4 | c.2217T= (p.Asn739=) c.999T= (p.Asn333=) | |
| 15 | g.73323876A>C | CA393089380 | HCN4 | c.2217T>G (p.Asn739Lys) c.999T>G (p.Asn333Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323876A>G | CA491478627 | HCN4 | c.2217T>C (p.Asn739=) c.999T>C (p.Asn333=) | |
| 15 | g.73323876A>T | CA393089381 | HCN4 | c.2217T>A (p.Asn739Lys) c.999T>A (p.Asn333Lys) | |
| 15 | g.73323877T>A | CA393089383 | HCN4 | c.2216A>T (p.Asn739Ile) c.998A>T (p.Asn333Ile) | |
| 15 | g.73323877T>C | CA393089384 | HCN4 | c.2216A>G (p.Asn739Ser) c.998A>G (p.Asn333Ser) | ClinVar dbSNP |
| 15 | g.73323877T>G | CA393089385 | HCN4 | c.2216A>C (p.Asn739Thr) c.998A>C (p.Asn333Thr) | |
| 15 | g.73323877T= | CA2187188733 | HCN4 | c.2216A= (p.Asn739=) c.998A= (p.Asn333=) | |
| 15 | g.73323878T>A | CA393089387 | HCN4 | c.2215A>T (p.Asn739Tyr) c.997A>T (p.Asn333Tyr) | |
| 15 | g.73323878T>C | CA393089390 | HCN4 | c.2215A>G (p.Asn739Asp) c.997A>G (p.Asn333Asp) | |
| 15 | g.73323878T>G | CA393089389 | HCN4 | c.2215A>C (p.Asn739His) c.997A>C (p.Asn333His) | |
| 15 | g.73323879C>A | CA393089391 | HCN4 | c.2214G>T (p.Glu738Asp) c.996G>T (p.Glu332Asp) | gnomAD v4 |
| 15 | g.73323879C= | CA2187188738 | HCN4 | c.2214G= (p.Glu738=) c.996G= (p.Glu332=) | |
| 15 | g.73323879C>G | CA393089393 | HCN4 | c.2214G>C (p.Glu738Asp) c.996G>C (p.Glu332Asp) | gnomAD v4 |
| 15 | g.73323879C>T | CA7649074 | HCN4 | c.2214G>A (p.Glu738=) c.996G>A (p.Glu332=) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.73323880T>A | CA393089395 | HCN4 | c.2213A>T (p.Glu738Val) c.995A>T (p.Glu332Val) | |
| 15 | g.73323880T>C | CA393089397 | HCN4 | c.2213A>G (p.Glu738Gly) c.995A>G (p.Glu332Gly) | |
| 15 | g.73323880T>G | CA393089398 | HCN4 | c.2213A>C (p.Glu738Ala) c.995A>C (p.Glu332Ala) | |
| 15 | g.73323881C>A | CA393089400 | HCN4 | c.2212G>T (p.Glu738Ter) c.994G>T (p.Glu332Ter) | |
| 15 | g.73323881C= | CA2187188742 | HCN4 | c.2212G= (p.Glu738=) c.994G= (p.Glu332=) | |
| 15 | g.73323881C>G | CA393089402 | HCN4 | c.2212G>C (p.Glu738Gln) c.994G>C (p.Glu332Gln) | dbSNP gnomAD v4 |
| 15 | g.73323881C>T | CA272665085 | HCN4 | c.2212G>A (p.Glu738Lys) c.994G>A (p.Glu332Lys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73323882C>A | CA7649075 | HCN4 | c.2211G>T (p.Gln737His) c.993G>T (p.Gln331His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323882C= | CA2187188747 | HCN4 | c.2211G= (p.Gln737=) c.993G= (p.Gln331=) | |
| 15 | g.73323882C>G | CA393089405 | HCN4 | c.2211G>C (p.Gln737His) c.993G>C (p.Gln331His) | |
| 15 | g.73323882C>T | CA491478642 | HCN4 | c.2211G>A (p.Gln737=) c.993G>A (p.Gln331=) | |
| 15 | g.73323883T>A | CA393089408 | HCN4 | c.2210A>T (p.Gln737Leu) c.992A>T (p.Gln331Leu) | |
| 15 | g.73323883T>C | CA7649076 | HCN4 | c.2210A>G (p.Gln737Arg) c.992A>G (p.Gln331Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323883T>G | CA393089406 | HCN4 | c.2210A>C (p.Gln737Pro) c.992A>C (p.Gln331Pro) | |
| 15 | g.73323883T= | CA2187188750 | HCN4 | c.2210A= (p.Gln737=) c.992A= (p.Gln331=) | |
| 15 | g.73323884G>A | CA393089414 | HCN4 | c.2209C>T (p.Gln737Ter) c.991C>T (p.Gln331Ter) | |
| 15 | g.73323884G>C | CA393089411 | HCN4 | c.2209C>G (p.Gln737Glu) c.991C>G (p.Gln331Glu) | |
| 15 | g.73323884G>T | CA393089412 | HCN4 | c.2209C>A (p.Gln737Lys) c.991C>A (p.Gln331Lys) | gnomAD v4 |
| 15 | g.73323885G>A | CA7649077 | HCN4 | c.2208C>T (p.Tyr736=) c.990C>T (p.Tyr330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323885G>C | CA393089416 | HCN4 | c.2208C>G (p.Tyr736Ter) c.990C>G (p.Tyr330Ter) | |
| 15 | g.73323885G= | CA2187188753 | HCN4 | c.2208C= (p.Tyr736=) c.990C= (p.Tyr330=) | |
| 15 | g.73323885G>T | CA393089418 | HCN4 | c.2208C>A (p.Tyr736Ter) c.990C>A (p.Tyr330Ter) | gnomAD v4 |
| 15 | g.73323886T>A | CA393089420 | HCN4 | c.2207A>T (p.Tyr736Phe) c.989A>T (p.Tyr330Phe) | |
| 15 | g.73323886T>C | CA393089421 | HCN4 | c.2207A>G (p.Tyr736Cys) c.989A>G (p.Tyr330Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323886T>G | CA393089423 | HCN4 | c.2207A>C (p.Tyr736Ser) c.989A>C (p.Tyr330Ser) | |
| 15 | g.73323886T= | CA2187188757 | HCN4 | c.2207A= (p.Tyr736=) c.989A= (p.Tyr330=) | |
| 15 | g.73323887A= | CA2187188760 | HCN4 | c.2206T= (p.Tyr736=) c.988T= (p.Tyr330=) | |
| 15 | g.73323887A>C | CA393089424 | HCN4 | c.2206T>G (p.Tyr736Asp) c.988T>G (p.Tyr330Asp) | |
| 15 | g.73323887A>G | CA272665111 | HCN4 | c.2206T>C (p.Tyr736His) c.988T>C (p.Tyr330His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323887A>T | CA393089426 | HCN4 | c.2206T>A (p.Tyr736Asn) c.988T>A (p.Tyr330Asn) | |
| 15 | g.73323888G>A | CA491478659 | HCN4 | c.2205C>T (p.Asn735=) c.987C>T (p.Asn329=) | |
| 15 | g.73323888G>C | CA393089428 | HCN4 | c.2205C>G (p.Asn735Lys) c.987C>G (p.Asn329Lys) | |
| 15 | g.73323888G>T | CA393089430 | HCN4 | c.2205C>A (p.Asn735Lys) c.987C>A (p.Asn329Lys) | |
| 15 | g.73323889T>A | CA393089434 | HCN4 | c.2204A>T (p.Asn735Ile) c.986A>T (p.Asn329Ile) | |
| 15 | g.73323889T>C | CA393089432 | HCN4 | c.2204A>G (p.Asn735Ser) c.986A>G (p.Asn329Ser) | dbSNP gnomAD v4 |
| 15 | g.73323889T>G | CA393089431 | HCN4 | c.2204A>C (p.Asn735Thr) c.986A>C (p.Asn329Thr) | gnomAD v4 |
| 15 | g.73323889T= | CA2187188764 | HCN4 | c.2204A= (p.Asn735=) c.986A= (p.Asn329=) | |
| 15 | g.73323890T>A | CA393089435 | HCN4 | c.2203A>T (p.Asn735Tyr) c.985A>T (p.Asn329Tyr) | |
| 15 | g.73323890T>C | CA393089437 | HCN4 | c.2203A>G (p.Asn735Asp) c.985A>G (p.Asn329Asp) | |
| 15 | g.73323890T>G | CA393089438 | HCN4 | c.2203A>C (p.Asn735His) c.985A>C (p.Asn329His) |