| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150945498G>A | CA008234 | KCNH2 | n.4180C>T c.3347C>T (p.Ala1116Val) c.2327C>T (p.Ala776Val) c.3047C>T (p.Ala1016Val) c.3197C>T (p.Ala1066Val) c.3170C>T (p.Ala1057Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945498G>C | CA369851597 | KCNH2 | n.4180C>G c.3347C>G (p.Ala1116Gly) c.2327C>G (p.Ala776Gly) c.3047C>G (p.Ala1016Gly) c.3197C>G (p.Ala1066Gly) c.3170C>G (p.Ala1057Gly) | |
| 7 | g.150945498G= | CA1752425843 | KCNH2 | n.4180C= c.3347C= (p.Ala1116=) c.2327C= (p.Ala776=) c.3047C= (p.Ala1016=) c.3197C= (p.Ala1066=) c.3170C= (p.Ala1057=) | |
| 7 | g.150945498G>T | CA369851596 | KCNH2 | n.4180C>A c.3347C>A (p.Ala1116Glu) c.2327C>A (p.Ala776Glu) c.3047C>A (p.Ala1016Glu) c.3197C>A (p.Ala1066Glu) c.3170C>A (p.Ala1057Glu) | gnomAD v4 |
| 7 | g.150945499C>A | CA369851598 | KCNH2 | n.4179G>T c.3346G>T (p.Ala1116Ser) c.2326G>T (p.Ala776Ser) c.3046G>T (p.Ala1016Ser) c.3196G>T (p.Ala1066Ser) c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
| 7 | g.150945499C= | CA1752425847 | KCNH2 | n.4179G= c.3346G= (p.Ala1116=) c.2326G= (p.Ala776=) c.3046G= (p.Ala1016=) c.3196G= (p.Ala1066=) c.3169G= (p.Ala1057=) | |
| 7 | g.150945499C>G | CA369851600 | KCNH2 | n.4179G>C c.3346G>C (p.Ala1116Pro) c.2326G>C (p.Ala776Pro) c.3046G>C (p.Ala1016Pro) c.3196G>C (p.Ala1066Pro) c.3169G>C (p.Ala1057Pro) | |
| 7 | g.150945499C>T | CA369851599 | KCNH2 | n.4179G>A c.3346G>A (p.Ala1116Thr) c.2326G>A (p.Ala776Thr) c.3046G>A (p.Ala1016Thr) c.3196G>A (p.Ala1066Thr) c.3169G>A (p.Ala1057Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150945500C>A | CA369851601 | KCNH2 | n.4178G>T c.3345G>T (p.Met1115Ile) c.2325G>T (p.Met775Ile) c.3045G>T (p.Met1015Ile) c.3195G>T (p.Met1065Ile) c.3168G>T (p.Met1056Ile) | gnomAD v4 |
| 7 | g.150945500C>G | CA369851602 | KCNH2 | n.4178G>C c.3345G>C (p.Met1115Ile) c.2325G>C (p.Met775Ile) c.3045G>C (p.Met1015Ile) c.3195G>C (p.Met1065Ile) c.3168G>C (p.Met1056Ile) | |
| 7 | g.150945500C>T | CA369851603 | KCNH2 | n.4178G>A c.3345G>A (p.Met1115Ile) c.2325G>A (p.Met775Ile) c.3045G>A (p.Met1015Ile) c.3195G>A (p.Met1065Ile) c.3168G>A (p.Met1056Ile) | gnomAD v4 |
| 7 | g.150945500_150945501insGT | CA1108704350 | KCNH2 | n.4177_4178insAC c.3344_3345insAC (p.Met1115IlefsTer?) c.2324_2325insAC (p.Met775IlefsTer?) c.3044_3045insAC (p.Met1015IlefsTer?) c.3194_3195insAC (p.Met1065IlefsTer?) c.3167_3168insAC (p.Met1056IlefsTer?) | gnomAD v3 gnomAD v4 |
| 7 | g.150945501A= | CA1752425850 | KCNH2 | n.4177T= c.3344T= (p.Met1115=) c.2324T= (p.Met775=) c.3044T= (p.Met1015=) c.3194T= (p.Met1065=) c.3167T= (p.Met1056=) | |
| 7 | g.150945501A>C | CA369851604 | KCNH2 | n.4177T>G c.3344T>G (p.Met1115Arg) c.2324T>G (p.Met775Arg) c.3044T>G (p.Met1015Arg) c.3194T>G (p.Met1065Arg) c.3167T>G (p.Met1056Arg) | |
| 7 | g.150945501A>G | CA038742 | KCNH2 | n.4177T>C c.3344T>C (p.Met1115Thr) c.2324T>C (p.Met775Thr) c.3044T>C (p.Met1015Thr) c.3194T>C (p.Met1065Thr) c.3167T>C (p.Met1056Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150945501A>T | CA369851605 | KCNH2 | n.4177T>A c.3344T>A (p.Met1115Lys) c.2324T>A (p.Met775Lys) c.3044T>A (p.Met1015Lys) c.3194T>A (p.Met1065Lys) c.3167T>A (p.Met1056Lys) | dbSNP gnomAD v4 |
| 7 | g.150945502T>A | CA369851606 | KCNH2 | n.4176A>T c.3343A>T (p.Met1115Leu) c.2323A>T (p.Met775Leu) c.3043A>T (p.Met1015Leu) c.3193A>T (p.Met1065Leu) c.3166A>T (p.Met1056Leu) | |
| 7 | g.150945502T>C | CA008225 | KCNH2 | n.4176A>G c.3343A>G (p.Met1115Val) c.2323A>G (p.Met775Val) c.3043A>G (p.Met1015Val) c.3193A>G (p.Met1065Val) c.3166A>G (p.Met1056Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150945502T>G | CA369851607 | KCNH2 | n.4176A>C c.3343A>C (p.Met1115Leu) c.2323A>C (p.Met775Leu) c.3043A>C (p.Met1015Leu) c.3193A>C (p.Met1065Leu) c.3166A>C (p.Met1056Leu) | |
| 7 | g.150945502T= | CA1752425855 | KCNH2 | n.4176A= c.3343A= (p.Met1115=) c.2323A= (p.Met775=) c.3043A= (p.Met1015=) c.3193A= (p.Met1065=) c.3166A= (p.Met1056=) | |
| 7 | g.150945502_150945503insCATTAAAA | CA1108704354 | KCNH2 | n.4175_4176insTTTTAATG c.3342_3343insTTTTAATG (p.Met1115PhefsTer2) c.2322_2323insTTTTAATG (p.Met775PhefsTer2) c.3042_3043insTTTTAATG (p.Met1015PhefsTer2) c.3192_3193insTTTTAATG (p.Met1065PhefsTer2) c.3165_3166insTTTTAATG (p.Met1056PhefsTer2) | gnomAD v3 gnomAD v4 |
| 7 | g.150945503G>A | CA458644602 | KCNH2 | n.4175C>T c.3342C>T (p.Phe1114=) c.2322C>T (p.Phe774=) c.3042C>T (p.Phe1014=) c.3192C>T (p.Phe1064=) c.3165C>T (p.Phe1055=) | gnomAD v3 gnomAD v4 |
| 7 | g.150945503G>C | CA369851608 | KCNH2 | n.4175C>G c.3342C>G (p.Phe1114Leu) c.2322C>G (p.Phe774Leu) c.3042C>G (p.Phe1014Leu) c.3192C>G (p.Phe1064Leu) c.3165C>G (p.Phe1055Leu) | ClinVar gnomAD v4 |
| 7 | g.150945503G>T | CA369851609 | KCNH2 | n.4175C>A c.3342C>A (p.Phe1114Leu) c.2322C>A (p.Phe774Leu) c.3042C>A (p.Phe1014Leu) c.3192C>A (p.Phe1064Leu) c.3165C>A (p.Phe1055Leu) | gnomAD v4 |
| 7 | g.150945504A>C | CA369851612 | KCNH2 | n.4174T>G c.3341T>G (p.Phe1114Cys) c.2321T>G (p.Phe774Cys) c.3041T>G (p.Phe1014Cys) c.3191T>G (p.Phe1064Cys) c.3164T>G (p.Phe1055Cys) | |
| 7 | g.150945504A>G | CA369851611 | KCNH2 | n.4174T>C c.3341T>C (p.Phe1114Ser) c.2321T>C (p.Phe774Ser) c.3041T>C (p.Phe1014Ser) c.3191T>C (p.Phe1064Ser) c.3164T>C (p.Phe1055Ser) | |
| 7 | g.150945504A>T | CA369851610 | KCNH2 | n.4174T>A c.3341T>A (p.Phe1114Tyr) c.2321T>A (p.Phe774Tyr) c.3041T>A (p.Phe1014Tyr) c.3191T>A (p.Phe1064Tyr) c.3164T>A (p.Phe1055Tyr) | |
| 7 | g.150945505A>C | CA369851613 | KCNH2 | n.4173T>G c.3340T>G (p.Phe1114Val) c.2320T>G (p.Phe774Val) c.3040T>G (p.Phe1014Val) c.3190T>G (p.Phe1064Val) c.3163T>G (p.Phe1055Val) | |
| 7 | g.150945505A>G | CA369851614 | KCNH2 | n.4173T>C c.3340T>C (p.Phe1114Leu) c.2320T>C (p.Phe774Leu) c.3040T>C (p.Phe1014Leu) c.3190T>C (p.Phe1064Leu) c.3163T>C (p.Phe1055Leu) | gnomAD v4 |
| 7 | g.150945505A>T | CA369851615 | KCNH2 | n.4173T>A c.3340T>A (p.Phe1114Ile) c.2320T>A (p.Phe774Ile) c.3040T>A (p.Phe1014Ile) c.3190T>A (p.Phe1064Ile) c.3163T>A (p.Phe1055Ile) | |
| 7 | g.150945506C>A | CA369851616 | KCNH2 | n.4172G>T c.3339G>T (p.Gln1113His) c.2319G>T (p.Gln773His) c.3039G>T (p.Gln1013His) c.3189G>T (p.Gln1063His) c.3162G>T (p.Gln1054His) | gnomAD v4 |
| 7 | g.150945506C= | CA1752425862 | KCNH2 | n.4172G= c.3339G= (p.Gln1113=) c.2319G= (p.Gln773=) c.3039G= (p.Gln1013=) c.3189G= (p.Gln1063=) c.3162G= (p.Gln1054=) | |
| 7 | g.150945506C>G | CA369851617 | KCNH2 | n.4172G>C c.3339G>C (p.Gln1113His) c.2319G>C (p.Gln773His) c.3039G>C (p.Gln1013His) c.3189G>C (p.Gln1063His) c.3162G>C (p.Gln1054His) | gnomAD v4 |
| 7 | g.150945506C>T | CA458644603 | KCNH2 | n.4172G>A c.3339G>A (p.Gln1113=) c.2319G>A (p.Gln773=) c.3039G>A (p.Gln1013=) c.3189G>A (p.Gln1063=) c.3162G>A (p.Gln1054=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150945507T>A | CA369851618 | KCNH2 | n.4171A>T c.3338A>T (p.Gln1113Leu) c.2318A>T (p.Gln773Leu) c.3038A>T (p.Gln1013Leu) c.3188A>T (p.Gln1063Leu) c.3161A>T (p.Gln1054Leu) | |
| 7 | g.150945507T>C | CA369851619 | KCNH2 | n.4171A>G c.3338A>G (p.Gln1113Arg) c.2318A>G (p.Gln773Arg) c.3038A>G (p.Gln1013Arg) c.3188A>G (p.Gln1063Arg) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
| 7 | g.150945507T>G | CA369851620 | KCNH2 | n.4171A>C c.3338A>C (p.Gln1113Pro) c.2318A>C (p.Gln773Pro) c.3038A>C (p.Gln1013Pro) c.3188A>C (p.Gln1063Pro) c.3161A>C (p.Gln1054Pro) | |
| 7 | g.150945508G>A | CA369851621 | KCNH2 | n.4170C>T c.3337C>T (p.Gln1113Ter) c.2317C>T (p.Gln773Ter) c.3037C>T (p.Gln1013Ter) c.3187C>T (p.Gln1063Ter) c.3160C>T (p.Gln1054Ter) | gnomAD v4 |
| 7 | g.150945508G>C | CA369851622 | KCNH2 | n.4170C>G c.3337C>G (p.Gln1113Glu) c.2317C>G (p.Gln773Glu) c.3037C>G (p.Gln1013Glu) c.3187C>G (p.Gln1063Glu) c.3160C>G (p.Gln1054Glu) | |
| 7 | g.150945508G>T | CA369851623 | KCNH2 | n.4170C>A c.3337C>A (p.Gln1113Lys) c.2317C>A (p.Gln773Lys) c.3037C>A (p.Gln1013Lys) c.3187C>A (p.Gln1063Lys) c.3160C>A (p.Gln1054Lys) | gnomAD v4 |
| 7 | g.150945509G>A | CA458644604 | KCNH2 | n.4169C>T c.3336C>T (p.Ser1112=) c.2316C>T (p.Ser772=) c.3036C>T (p.Ser1012=) c.3186C>T (p.Ser1062=) c.3159C>T (p.Ser1053=) | dbSNP gnomAD v4 |
| 7 | g.150945509G>C | CA458644606 | KCNH2 | n.4169C>G c.3336C>G (p.Ser1112=) c.2316C>G (p.Ser772=) c.3036C>G (p.Ser1012=) c.3186C>G (p.Ser1062=) c.3159C>G (p.Ser1053=) | gnomAD v4 |
| 7 | g.150945509G= | CA1752425866 | KCNH2 | n.4169C= c.3336C= (p.Ser1112=) c.2316C= (p.Ser772=) c.3036C= (p.Ser1012=) c.3186C= (p.Ser1062=) c.3159C= (p.Ser1053=) | |
| 7 | g.150945509G>T | CA458644605 | KCNH2 | n.4169C>A c.3336C>A (p.Ser1112=) c.2316C>A (p.Ser772=) c.3036C>A (p.Ser1012=) c.3186C>A (p.Ser1062=) c.3159C>A (p.Ser1053=) | dbSNP gnomAD v4 |
| 7 | g.150945510G>A | CA369851626 | KCNH2 | n.4168C>T c.3335C>T (p.Ser1112Phe) c.2315C>T (p.Ser772Phe) c.3035C>T (p.Ser1012Phe) c.3185C>T (p.Ser1062Phe) c.3158C>T (p.Ser1053Phe) | gnomAD v4 |
| 7 | g.150945510G>C | CA369851625 | KCNH2 | n.4168C>G c.3335C>G (p.Ser1112Cys) c.2315C>G (p.Ser772Cys) c.3035C>G (p.Ser1012Cys) c.3185C>G (p.Ser1062Cys) c.3158C>G (p.Ser1053Cys) | dbSNP |
| 7 | g.150945510G= | CA1752425870 | KCNH2 | n.4168C= c.3335C= (p.Ser1112=) c.2315C= (p.Ser772=) c.3035C= (p.Ser1012=) c.3185C= (p.Ser1062=) c.3158C= (p.Ser1053=) | |
| 7 | g.150945510G>T | CA369851624 | KCNH2 | n.4168C>A c.3335C>A (p.Ser1112Tyr) c.2315C>A (p.Ser772Tyr) c.3035C>A (p.Ser1012Tyr) c.3185C>A (p.Ser1062Tyr) c.3158C>A (p.Ser1053Tyr) | |
| 7 | g.150945511A>C | CA369851627 | KCNH2 | n.4167T>G c.3334T>G (p.Ser1112Ala) c.2314T>G (p.Ser772Ala) c.3034T>G (p.Ser1012Ala) c.3184T>G (p.Ser1062Ala) c.3157T>G (p.Ser1053Ala) | |
| 7 | g.150945511A>G | CA369851628 | KCNH2 | n.4167T>C c.3334T>C (p.Ser1112Pro) c.2314T>C (p.Ser772Pro) c.3034T>C (p.Ser1012Pro) c.3184T>C (p.Ser1062Pro) c.3157T>C (p.Ser1053Pro) |