| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150945398G>A | CA458644520 | KCNH2 | n.4280C>T c.3447C>T (p.Pro1149=) c.2427C>T (p.Pro809=) c.3147C>T (p.Pro1049=) c.3297C>T (p.Pro1099=) c.3270C>T (p.Pro1090=) | dbSNP gnomAD v2 |
| 7 | g.150945398G>C | CA169070331 | KCNH2 | n.4280C>G c.3447C>G (p.Pro1149=) c.2427C>G (p.Pro809=) c.3147C>G (p.Pro1049=) c.3297C>G (p.Pro1099=) c.3270C>G (p.Pro1090=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150945398G= | CA1752425633 | KCNH2 | n.4280C= c.3447C= (p.Pro1149=) c.2427C= (p.Pro809=) c.3147C= (p.Pro1049=) c.3297C= (p.Pro1099=) c.3270C= (p.Pro1090=) | |
| 7 | g.150945398G>T | CA458644521 | KCNH2 | n.4280C>A c.3447C>A (p.Pro1149=) c.2427C>A (p.Pro809=) c.3147C>A (p.Pro1049=) c.3297C>A (p.Pro1099=) c.3270C>A (p.Pro1090=) | |
| 7 | g.150945399G>A | CA369851402 | KCNH2 | n.4279C>T c.3446C>T (p.Pro1149Leu) c.2426C>T (p.Pro809Leu) c.3146C>T (p.Pro1049Leu) c.3296C>T (p.Pro1099Leu) c.3269C>T (p.Pro1090Leu) | |
| 7 | g.150945399G>C | CA369851400 | KCNH2 | n.4279C>G c.3446C>G (p.Pro1149Arg) c.2426C>G (p.Pro809Arg) c.3146C>G (p.Pro1049Arg) c.3296C>G (p.Pro1099Arg) c.3269C>G (p.Pro1090Arg) | gnomAD v4 |
| 7 | g.150945399G>T | CA369851401 | KCNH2 | n.4279C>A c.3446C>A (p.Pro1149His) c.2426C>A (p.Pro809His) c.3146C>A (p.Pro1049His) c.3296C>A (p.Pro1099His) c.3269C>A (p.Pro1090His) | gnomAD v4 |
| 7 | g.150945400G>A | CA369851403 | KCNH2 | n.4278C>T c.3445C>T (p.Pro1149Ser) c.2425C>T (p.Pro809Ser) c.3145C>T (p.Pro1049Ser) c.3295C>T (p.Pro1099Ser) c.3268C>T (p.Pro1090Ser) | ClinVar gnomAD v4 |
| 7 | g.150945400G>C | CA369851404 | KCNH2 | n.4278C>G c.3445C>G (p.Pro1149Ala) c.2425C>G (p.Pro809Ala) c.3145C>G (p.Pro1049Ala) c.3295C>G (p.Pro1099Ala) c.3268C>G (p.Pro1090Ala) | |
| 7 | g.150945400G>T | CA369851405 | KCNH2 | n.4278C>A c.3445C>A (p.Pro1149Thr) c.2425C>A (p.Pro809Thr) c.3145C>A (p.Pro1049Thr) c.3295C>A (p.Pro1099Thr) c.3268C>A (p.Pro1090Thr) | gnomAD v4 |
| 7 | g.150945401C>A | CA369851406 | KCNH2 | n.4277G>T c.3444G>T (p.Gln1148His) c.2424G>T (p.Gln808His) c.3144G>T (p.Gln1048His) c.3294G>T (p.Gln1098His) c.3267G>T (p.Gln1089His) | gnomAD v4 |
| 7 | g.150945401C>G | CA369851407 | KCNH2 | n.4277G>C c.3444G>C (p.Gln1148His) c.2424G>C (p.Gln808His) c.3144G>C (p.Gln1048His) c.3294G>C (p.Gln1098His) c.3267G>C (p.Gln1089His) | |
| 7 | g.150945401C>T | CA458644522 | KCNH2 | n.4277G>A c.3444G>A (p.Gln1148=) c.2424G>A (p.Gln808=) c.3144G>A (p.Gln1048=) c.3294G>A (p.Gln1098=) c.3267G>A (p.Gln1089=) | gnomAD v4 |
| 7 | g.150945402T>A | CA369851410 | KCNH2 | n.4276A>T c.3443A>T (p.Gln1148Leu) c.2423A>T (p.Gln808Leu) c.3143A>T (p.Gln1048Leu) c.3293A>T (p.Gln1098Leu) c.3266A>T (p.Gln1089Leu) | |
| 7 | g.150945402T>C | CA369851408 | KCNH2 | n.4276A>G c.3443A>G (p.Gln1148Arg) c.2423A>G (p.Gln808Arg) c.3143A>G (p.Gln1048Arg) c.3293A>G (p.Gln1098Arg) c.3266A>G (p.Gln1089Arg) | gnomAD v4 |
| 7 | g.150945402T>G | CA369851409 | KCNH2 | n.4276A>C c.3443A>C (p.Gln1148Pro) c.2423A>C (p.Gln808Pro) c.3143A>C (p.Gln1048Pro) c.3293A>C (p.Gln1098Pro) c.3266A>C (p.Gln1089Pro) | |
| 7 | g.150945403G>A | CA369851411 | KCNH2 | n.4275C>T c.3442C>T (p.Gln1148Ter) c.2422C>T (p.Gln808Ter) c.3142C>T (p.Gln1048Ter) c.3292C>T (p.Gln1098Ter) c.3265C>T (p.Gln1089Ter) | gnomAD v4 |
| 7 | g.150945403G>C | CA369851412 | KCNH2 | n.4275C>G c.3442C>G (p.Gln1148Glu) c.2422C>G (p.Gln808Glu) c.3142C>G (p.Gln1048Glu) c.3292C>G (p.Gln1098Glu) c.3265C>G (p.Gln1089Glu) | |
| 7 | g.150945403G>T | CA369851413 | KCNH2 | n.4275C>A c.3442C>A (p.Gln1148Lys) c.2422C>A (p.Gln808Lys) c.3142C>A (p.Gln1048Lys) c.3292C>A (p.Gln1098Lys) c.3265C>A (p.Gln1089Lys) | gnomAD v4 |
| 7 | g.150945404G>A | CA458644523 | KCNH2 | n.4274C>T c.3441C>T (p.Ser1147=) c.2421C>T (p.Ser807=) c.3141C>T (p.Ser1047=) c.3291C>T (p.Ser1097=) c.3264C>T (p.Ser1088=) | |
| 7 | g.150945404G>C | CA458644524 | KCNH2 | n.4274C>G c.3441C>G (p.Ser1147=) c.2421C>G (p.Ser807=) c.3141C>G (p.Ser1047=) c.3291C>G (p.Ser1097=) c.3264C>G (p.Ser1088=) | |
| 7 | g.150945404G>T | CA458644525 | KCNH2 | n.4274C>A c.3441C>A (p.Ser1147=) c.2421C>A (p.Ser807=) c.3141C>A (p.Ser1047=) c.3291C>A (p.Ser1097=) c.3264C>A (p.Ser1088=) | |
| 7 | g.150945405G>A | CA369851414 | KCNH2 | n.4273C>T c.3440C>T (p.Ser1147Phe) c.2420C>T (p.Ser807Phe) c.3140C>T (p.Ser1047Phe) c.3290C>T (p.Ser1097Phe) c.3263C>T (p.Ser1088Phe) | |
| 7 | g.150945405G>C | CA369851415 | KCNH2 | n.4273C>G c.3440C>G (p.Ser1147Cys) c.2420C>G (p.Ser807Cys) c.3140C>G (p.Ser1047Cys) c.3290C>G (p.Ser1097Cys) c.3263C>G (p.Ser1088Cys) | |
| 7 | g.150945405G>T | CA369851416 | KCNH2 | n.4273C>A c.3440C>A (p.Ser1147Tyr) c.2420C>A (p.Ser807Tyr) c.3140C>A (p.Ser1047Tyr) c.3290C>A (p.Ser1097Tyr) c.3263C>A (p.Ser1088Tyr) | |
| 7 | g.150945406A>C | CA369851417 | KCNH2 | n.4272T>G c.3439T>G (p.Ser1147Ala) c.2419T>G (p.Ser807Ala) c.3139T>G (p.Ser1047Ala) c.3289T>G (p.Ser1097Ala) c.3262T>G (p.Ser1088Ala) | |
| 7 | g.150945406A>G | CA369851418 | KCNH2 | n.4272T>C c.3439T>C (p.Ser1147Pro) c.2419T>C (p.Ser807Pro) c.3139T>C (p.Ser1047Pro) c.3289T>C (p.Ser1097Pro) c.3262T>C (p.Ser1088Pro) | gnomAD v4 |
| 7 | g.150945406A>T | CA369851419 | KCNH2 | n.4272T>A c.3439T>A (p.Ser1147Thr) c.2419T>A (p.Ser807Thr) c.3139T>A (p.Ser1047Thr) c.3289T>A (p.Ser1097Thr) c.3262T>A (p.Ser1088Thr) | |
| 7 | g.150945407G>A | CA458644526 | KCNH2 | n.4271C>T c.3438C>T (p.Thr1146=) c.2418C>T (p.Thr806=) c.3138C>T (p.Thr1046=) c.3288C>T (p.Thr1096=) c.3261C>T (p.Thr1087=) | dbSNP gnomAD v4 |
| 7 | g.150945407G>C | CA458644527 | KCNH2 | n.4271C>G c.3438C>G (p.Thr1146=) c.2418C>G (p.Thr806=) c.3138C>G (p.Thr1046=) c.3288C>G (p.Thr1096=) c.3261C>G (p.Thr1087=) | |
| 7 | g.150945407G= | CA1752425634 | KCNH2 | n.4271C= c.3438C= (p.Thr1146=) c.2418C= (p.Thr806=) c.3138C= (p.Thr1046=) c.3288C= (p.Thr1096=) c.3261C= (p.Thr1087=) | |
| 7 | g.150945407G>T | CA458644528 | KCNH2 | n.4271C>A c.3438C>A (p.Thr1146=) c.2418C>A (p.Thr806=) c.3138C>A (p.Thr1046=) c.3288C>A (p.Thr1096=) c.3261C>A (p.Thr1087=) | gnomAD v4 |
| 7 | g.150945408G>A | CA369851420 | KCNH2 | n.4270C>T c.3437C>T (p.Thr1146Ile) c.2417C>T (p.Thr806Ile) c.3137C>T (p.Thr1046Ile) c.3287C>T (p.Thr1096Ile) c.3260C>T (p.Thr1087Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945408G>C | CA369851421 | KCNH2 | n.4270C>G c.3437C>G (p.Thr1146Ser) c.2417C>G (p.Thr806Ser) c.3137C>G (p.Thr1046Ser) c.3287C>G (p.Thr1096Ser) c.3260C>G (p.Thr1087Ser) | |
| 7 | g.150945408G= | CA1752425635 | KCNH2 | n.4270C= c.3437C= (p.Thr1146=) c.2417C= (p.Thr806=) c.3137C= (p.Thr1046=) c.3287C= (p.Thr1096=) c.3260C= (p.Thr1087=) | |
| 7 | g.150945408G>T | CA369851422 | KCNH2 | n.4270C>A c.3437C>A (p.Thr1146Asn) c.2417C>A (p.Thr806Asn) c.3137C>A (p.Thr1046Asn) c.3287C>A (p.Thr1096Asn) c.3260C>A (p.Thr1087Asn) | gnomAD v4 |
| 7 | g.150945409T>A | CA039013 | KCNH2 | n.4269A>T c.3436A>T (p.Thr1146Ser) c.2416A>T (p.Thr806Ser) c.3136A>T (p.Thr1046Ser) c.3286A>T (p.Thr1096Ser) c.3259A>T (p.Thr1087Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945409T>C | CA369851424 | KCNH2 | n.4269A>G c.3436A>G (p.Thr1146Ala) c.2416A>G (p.Thr806Ala) c.3136A>G (p.Thr1046Ala) c.3286A>G (p.Thr1096Ala) c.3259A>G (p.Thr1087Ala) | dbSNP gnomAD v2 |
| 7 | g.150945409T>G | CA369851423 | KCNH2 | n.4269A>C c.3436A>C (p.Thr1146Pro) c.2416A>C (p.Thr806Pro) c.3136A>C (p.Thr1046Pro) c.3286A>C (p.Thr1096Pro) c.3259A>C (p.Thr1087Pro) | dbSNP |
| 7 | g.150945409T= | CA1752425638 | KCNH2 | n.4269A= c.3436A= (p.Thr1146=) c.2416A= (p.Thr806=) c.3136A= (p.Thr1046=) c.3286A= (p.Thr1096=) c.3259A= (p.Thr1087=) | |
| 7 | g.150945410G>A | CA458644529 | KCNH2 | n.4268C>T c.3435C>T (p.Leu1145=) c.2415C>T (p.Leu805=) c.3135C>T (p.Leu1045=) c.3285C>T (p.Leu1095=) c.3258C>T (p.Leu1086=) | dbSNP gnomAD v4 |
| 7 | g.150945410G>C | CA458644530 | KCNH2 | n.4268C>G c.3435C>G (p.Leu1145=) c.2415C>G (p.Leu805=) c.3135C>G (p.Leu1045=) c.3285C>G (p.Leu1095=) c.3258C>G (p.Leu1086=) | |
| 7 | g.150945410G= | CA1752425643 | KCNH2 | n.4268C= c.3435C= (p.Leu1145=) c.2415C= (p.Leu805=) c.3135C= (p.Leu1045=) c.3285C= (p.Leu1095=) c.3258C= (p.Leu1086=) | |
| 7 | g.150945410G>T | CA458644531 | KCNH2 | n.4268C>A c.3435C>A (p.Leu1145=) c.2415C>A (p.Leu805=) c.3135C>A (p.Leu1045=) c.3285C>A (p.Leu1095=) c.3258C>A (p.Leu1086=) | gnomAD v4 |
| 7 | g.150945411A>C | CA369851425 | KCNH2 | n.4267T>G c.3434T>G (p.Leu1145Arg) c.2414T>G (p.Leu805Arg) c.3134T>G (p.Leu1045Arg) c.3284T>G (p.Leu1095Arg) c.3257T>G (p.Leu1086Arg) | |
| 7 | g.150945411A>G | CA369851427 | KCNH2 | n.4267T>C c.3434T>C (p.Leu1145Pro) c.2414T>C (p.Leu805Pro) c.3134T>C (p.Leu1045Pro) c.3284T>C (p.Leu1095Pro) c.3257T>C (p.Leu1086Pro) | gnomAD v4 |
| 7 | g.150945411A>T | CA369851426 | KCNH2 | n.4267T>A c.3434T>A (p.Leu1145His) c.2414T>A (p.Leu805His) c.3134T>A (p.Leu1045His) c.3284T>A (p.Leu1095His) c.3257T>A (p.Leu1086His) | |
| 7 | g.150945412G>A | CA369851428 | KCNH2 | n.4266C>T c.3433C>T (p.Leu1145Phe) c.2413C>T (p.Leu805Phe) c.3133C>T (p.Leu1045Phe) c.3283C>T (p.Leu1095Phe) c.3256C>T (p.Leu1086Phe) | |
| 7 | g.150945412G>C | CA369851429 | KCNH2 | n.4266C>G c.3433C>G (p.Leu1145Val) c.2413C>G (p.Leu805Val) c.3133C>G (p.Leu1045Val) c.3283C>G (p.Leu1095Val) c.3256C>G (p.Leu1086Val) | ClinVar |
| 7 | g.150945412G>T | CA369851430 | KCNH2 | n.4266C>A c.3433C>A (p.Leu1145Ile) c.2413C>A (p.Leu805Ile) c.3133C>A (p.Leu1045Ile) c.3283C>A (p.Leu1095Ile) c.3256C>A (p.Leu1086Ile) | gnomAD v4 |