WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150945428dup | CA2695208685 | KCNH2 | n.4252dup c.3419dup (p.Gln1141ProfsTer?) c.2399dup (p.Gln801ProfsTer?) c.3119dup (p.Gln1041ProfsTer?) c.3269dup (p.Gln1091ProfsTer?) c.3242dup (p.Gln1082ProfsTer?) | |
| 7 | g.150945428del | CA2580077675 | KCNH2 | n.4252del c.3419del (p.Gly1140AlafsTer?) c.2399del (p.Gly800AlafsTer?) c.3119del (p.Gly1040AlafsTer?) c.3269del (p.Gly1090AlafsTer?) c.3242del (p.Gly1081AlafsTer?) | ClinVar |
| 7 | g.150945427C>A | CA369851457 | KCNH2 | n.4251G>T c.3418G>T (p.Gly1140Cys) c.2398G>T (p.Gly800Cys) c.3118G>T (p.Gly1040Cys) c.3268G>T (p.Gly1090Cys) c.3241G>T (p.Gly1081Cys) | |
| 7 | g.150945427C>G | CA369851458 | KCNH2 | n.4251G>C c.3418G>C (p.Gly1140Arg) c.2398G>C (p.Gly800Arg) c.3118G>C (p.Gly1040Arg) c.3268G>C (p.Gly1090Arg) c.3241G>C (p.Gly1081Arg) | |
| 7 | g.150945427C>T | CA369851459 | KCNH2 | n.4251G>A c.3418G>A (p.Gly1140Ser) c.2398G>A (p.Gly800Ser) c.3118G>A (p.Gly1040Ser) c.3268G>A (p.Gly1090Ser) c.3241G>A (p.Gly1081Ser) | gnomAD v4 |
| 7 | g.150945428C>A | CA458644546 | KCNH2 | n.4250G>T c.3417G>T (p.Pro1139=) c.2397G>T (p.Pro799=) c.3117G>T (p.Pro1039=) c.3267G>T (p.Pro1089=) c.3240G>T (p.Pro1080=) | gnomAD v4 |
| 7 | g.150945428C= | CA1752425662 | KCNH2 | n.4250G= c.3417G= (p.Pro1139=) c.2397G= (p.Pro799=) c.3117G= (p.Pro1039=) c.3267G= (p.Pro1089=) c.3240G= (p.Pro1080=) | |
| 7 | g.150945428C>G | CA458644547 | KCNH2 | n.4250G>C c.3417G>C (p.Pro1139=) c.2397G>C (p.Pro799=) c.3117G>C (p.Pro1039=) c.3267G>C (p.Pro1089=) c.3240G>C (p.Pro1080=) | ClinVar |
| 7 | g.150945428C>T | CA038973 | KCNH2 | n.4250G>A c.3417G>A (p.Pro1139=) c.2397G>A (p.Pro799=) c.3117G>A (p.Pro1039=) c.3267G>A (p.Pro1089=) c.3240G>A (p.Pro1080=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945429G>A | CA10628555 | KCNH2 | n.4249C>T c.3416C>T (p.Pro1139Leu) c.2396C>T (p.Pro799Leu) c.3116C>T (p.Pro1039Leu) c.3266C>T (p.Pro1089Leu) c.3239C>T (p.Pro1080Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945429G>C | CA369851460 | KCNH2 | n.4249C>G c.3416C>G (p.Pro1139Arg) c.2396C>G (p.Pro799Arg) c.3116C>G (p.Pro1039Arg) c.3266C>G (p.Pro1089Arg) c.3239C>G (p.Pro1080Arg) | |
| 7 | g.150945429G= | CA1752425668 | KCNH2 | n.4249C= c.3416C= (p.Pro1139=) c.2396C= (p.Pro799=) c.3116C= (p.Pro1039=) c.3266C= (p.Pro1089=) c.3239C= (p.Pro1080=) | |
| 7 | g.150945429G>T | CA369851461 | KCNH2 | n.4249C>A c.3416C>A (p.Pro1139Gln) c.2396C>A (p.Pro799Gln) c.3116C>A (p.Pro1039Gln) c.3266C>A (p.Pro1089Gln) c.3239C>A (p.Pro1080Gln) | gnomAD v4 |
| 7 | g.150945430G>A | CA369851462 | KCNH2 | n.4248C>T c.3415C>T (p.Pro1139Ser) c.2395C>T (p.Pro799Ser) c.3115C>T (p.Pro1039Ser) c.3265C>T (p.Pro1089Ser) c.3238C>T (p.Pro1080Ser) | ClinVar gnomAD v4 |
| 7 | g.150945430G>C | CA369851463 | KCNH2 | n.4248C>G c.3415C>G (p.Pro1139Ala) c.2395C>G (p.Pro799Ala) c.3115C>G (p.Pro1039Ala) c.3265C>G (p.Pro1089Ala) c.3238C>G (p.Pro1080Ala) | |
| 7 | g.150945430G>T | CA369851464 | KCNH2 | n.4248C>A c.3415C>A (p.Pro1139Thr) c.2395C>A (p.Pro799Thr) c.3115C>A (p.Pro1039Thr) c.3265C>A (p.Pro1089Thr) c.3238C>A (p.Pro1080Thr) | gnomAD v4 |
| 7 | g.150945431T>A | CA458644548 | KCNH2 | n.4247A>T c.3414A>T (p.Leu1138=) c.2394A>T (p.Leu798=) c.3114A>T (p.Leu1038=) c.3264A>T (p.Leu1088=) c.3237A>T (p.Leu1079=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150945431T>C | CA458644549 | KCNH2 | n.4247A>G c.3414A>G (p.Leu1138=) c.2394A>G (p.Leu798=) c.3114A>G (p.Leu1038=) c.3264A>G (p.Leu1088=) c.3237A>G (p.Leu1079=) | gnomAD v4 |
| 7 | g.150945431T>G | CA458644550 | KCNH2 | n.4247A>C c.3414A>C (p.Leu1138=) c.2394A>C (p.Leu798=) c.3114A>C (p.Leu1038=) c.3264A>C (p.Leu1088=) c.3237A>C (p.Leu1079=) | |
| 7 | g.150945431T= | CA1752425671 | KCNH2 | n.4247A= c.3414A= (p.Leu1138=) c.2394A= (p.Leu798=) c.3114A= (p.Leu1038=) c.3264A= (p.Leu1088=) c.3237A= (p.Leu1079=) | |
| 7 | g.150945432A>C | CA369851467 | KCNH2 | n.4246T>G c.3413T>G (p.Leu1138Arg) c.2393T>G (p.Leu798Arg) c.3113T>G (p.Leu1038Arg) c.3263T>G (p.Leu1088Arg) c.3236T>G (p.Leu1079Arg) | |
| 7 | g.150945432A>G | CA369851465 | KCNH2 | n.4246T>C c.3413T>C (p.Leu1138Pro) c.2393T>C (p.Leu798Pro) c.3113T>C (p.Leu1038Pro) c.3263T>C (p.Leu1088Pro) c.3236T>C (p.Leu1079Pro) | gnomAD v4 |
| 7 | g.150945432A>T | CA369851466 | KCNH2 | n.4246T>A c.3413T>A (p.Leu1138Gln) c.2393T>A (p.Leu798Gln) c.3113T>A (p.Leu1038Gln) c.3263T>A (p.Leu1088Gln) c.3236T>A (p.Leu1079Gln) | |
| 7 | g.150945433G>A | CA458644551 | KCNH2 | n.4245C>T c.3412C>T (p.Leu1138=) c.2392C>T (p.Leu798=) c.3112C>T (p.Leu1038=) c.3262C>T (p.Leu1088=) c.3235C>T (p.Leu1079=) | dbSNP |
| 7 | g.150945433G>C | CA369851468 | KCNH2 | n.4245C>G c.3412C>G (p.Leu1138Val) c.2392C>G (p.Leu798Val) c.3112C>G (p.Leu1038Val) c.3262C>G (p.Leu1088Val) c.3235C>G (p.Leu1079Val) | |
| 7 | g.150945433G>T | CA369851469 | KCNH2 | n.4245C>A c.3412C>A (p.Leu1138Ile) c.2392C>A (p.Leu798Ile) c.3112C>A (p.Leu1038Ile) c.3262C>A (p.Leu1088Ile) c.3235C>A (p.Leu1079Ile) | gnomAD v4 |
| 7 | g.150945434G>A | CA458644552 | KCNH2 | n.4244C>T c.3411C>T (p.Ser1137=) c.2391C>T (p.Ser797=) c.3111C>T (p.Ser1037=) c.3261C>T (p.Ser1087=) c.3234C>T (p.Ser1078=) | gnomAD v4 |
| 7 | g.150945434G>C | CA458644553 | KCNH2 | n.4244C>G c.3411C>G (p.Ser1137=) c.2391C>G (p.Ser797=) c.3111C>G (p.Ser1037=) c.3261C>G (p.Ser1087=) c.3234C>G (p.Ser1078=) | |
| 7 | g.150945434G>T | CA458644554 | KCNH2 | n.4244C>A c.3411C>A (p.Ser1137=) c.2391C>A (p.Ser797=) c.3111C>A (p.Ser1037=) c.3261C>A (p.Ser1087=) c.3234C>A (p.Ser1078=) | gnomAD v4 |
| 7 | g.150945435G>A | CA369851470 | KCNH2 | n.4243C>T c.3410C>T (p.Ser1137Phe) c.2390C>T (p.Ser797Phe) c.3110C>T (p.Ser1037Phe) c.3260C>T (p.Ser1087Phe) c.3233C>T (p.Ser1078Phe) | gnomAD v4 |
| 7 | g.150945435G>C | CA369851471 | KCNH2 | n.4243C>G c.3410C>G (p.Ser1137Cys) c.2390C>G (p.Ser797Cys) c.3110C>G (p.Ser1037Cys) c.3260C>G (p.Ser1087Cys) c.3233C>G (p.Ser1078Cys) | gnomAD v4 |
| 7 | g.150945435G= | CA1752425675 | KCNH2 | n.4243C= c.3410C= (p.Ser1137=) c.2390C= (p.Ser797=) c.3110C= (p.Ser1037=) c.3260C= (p.Ser1087=) c.3233C= (p.Ser1078=) | |
| 7 | g.150945435G>T | CA369851472 | KCNH2 | n.4243C>A c.3410C>A (p.Ser1137Tyr) c.2390C>A (p.Ser797Tyr) c.3110C>A (p.Ser1037Tyr) c.3260C>A (p.Ser1087Tyr) c.3233C>A (p.Ser1078Tyr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150945436A>C | CA369851473 | KCNH2 | n.4242T>G c.3409T>G (p.Ser1137Ala) c.2389T>G (p.Ser797Ala) c.3109T>G (p.Ser1037Ala) c.3259T>G (p.Ser1087Ala) c.3232T>G (p.Ser1078Ala) | |
| 7 | g.150945436A>G | CA369851474 | KCNH2 | n.4242T>C c.3409T>C (p.Ser1137Pro) c.2389T>C (p.Ser797Pro) c.3109T>C (p.Ser1037Pro) c.3259T>C (p.Ser1087Pro) c.3232T>C (p.Ser1078Pro) | |
| 7 | g.150945436A>T | CA369851475 | KCNH2 | n.4242T>A c.3409T>A (p.Ser1137Thr) c.2389T>A (p.Ser797Thr) c.3109T>A (p.Ser1037Thr) c.3259T>A (p.Ser1087Thr) c.3232T>A (p.Ser1078Thr) | |
| 7 | g.150945437G>A | CA458644555 | KCNH2 | n.4241C>T c.3408C>T (p.Leu1136=) c.2388C>T (p.Leu796=) c.3108C>T (p.Leu1036=) c.3258C>T (p.Leu1086=) c.3231C>T (p.Leu1077=) | |
| 7 | g.150945437G>C | CA458644556 | KCNH2 | n.4241C>G c.3408C>G (p.Leu1136=) c.2388C>G (p.Leu796=) c.3108C>G (p.Leu1036=) c.3258C>G (p.Leu1086=) c.3231C>G (p.Leu1077=) | |
| 7 | g.150945437G>T | CA458644557 | KCNH2 | n.4241C>A c.3408C>A (p.Leu1136=) c.2388C>A (p.Leu796=) c.3108C>A (p.Leu1036=) c.3258C>A (p.Leu1086=) c.3231C>A (p.Leu1077=) | gnomAD v4 |
| 7 | g.150945438A>C | CA369851476 | KCNH2 | n.4240T>G c.3407T>G (p.Leu1136Arg) c.2387T>G (p.Leu796Arg) c.3107T>G (p.Leu1036Arg) c.3257T>G (p.Leu1086Arg) c.3230T>G (p.Leu1077Arg) | |
| 7 | g.150945438A>G | CA369851477 | KCNH2 | n.4240T>C c.3407T>C (p.Leu1136Pro) c.2387T>C (p.Leu796Pro) c.3107T>C (p.Leu1036Pro) c.3257T>C (p.Leu1086Pro) c.3230T>C (p.Leu1077Pro) | |
| 7 | g.150945438A>T | CA369851478 | KCNH2 | n.4240T>A c.3407T>A (p.Leu1136His) c.2387T>A (p.Leu796His) c.3107T>A (p.Leu1036His) c.3257T>A (p.Leu1086His) c.3230T>A (p.Leu1077His) | |
| 7 | g.150945439G>A | CA369851481 | KCNH2 | n.4239C>T c.3406C>T (p.Leu1136Phe) c.2386C>T (p.Leu796Phe) c.3106C>T (p.Leu1036Phe) c.3256C>T (p.Leu1086Phe) c.3229C>T (p.Leu1077Phe) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150945439G>C | CA369851479 | KCNH2 | n.4239C>G c.3406C>G (p.Leu1136Val) c.2386C>G (p.Leu796Val) c.3106C>G (p.Leu1036Val) c.3256C>G (p.Leu1086Val) c.3229C>G (p.Leu1077Val) | gnomAD v4 |
| 7 | g.150945439G= | CA1752425682 | KCNH2 | n.4239C= c.3406C= (p.Leu1136=) c.2386C= (p.Leu796=) c.3106C= (p.Leu1036=) c.3256C= (p.Leu1086=) c.3229C= (p.Leu1077=) | |
| 7 | g.150945439G>T | CA369851480 | KCNH2 | n.4239C>A c.3406C>A (p.Leu1136Ile) c.2386C>A (p.Leu796Ile) c.3106C>A (p.Leu1036Ile) c.3256C>A (p.Leu1086Ile) c.3229C>A (p.Leu1077Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.150945439_150945442dup | CA2573052835 | KCNH2 | n.4236_4239dup c.3403_3406dup (p.Leu1136ProfsTer?) c.2383_2386dup (p.Leu796ProfsTer?) c.3103_3106dup (p.Leu1036ProfsTer?) c.3253_3256dup (p.Leu1086ProfsTer?) c.3226_3229dup (p.Leu1077ProfsTer?) | ClinVar dbSNP |
| 7 | g.150945440G>A | CA458644558 | KCNH2 | n.4238C>T c.3405C>T (p.Arg1135=) c.2385C>T (p.Arg795=) c.3105C>T (p.Arg1035=) c.3255C>T (p.Arg1085=) c.3228C>T (p.Arg1076=) | gnomAD v4 |
| 7 | g.150945440G>C | CA458644559 | KCNH2 | n.4238C>G c.3405C>G (p.Arg1135=) c.2385C>G (p.Arg795=) c.3105C>G (p.Arg1035=) c.3255C>G (p.Arg1085=) c.3228C>G (p.Arg1076=) | |
| 7 | g.150945440G>T | CA458644560 | KCNH2 | n.4238C>A c.3405C>A (p.Arg1135=) c.2385C>A (p.Arg795=) c.3105C>A (p.Arg1035=) c.3255C>A (p.Arg1085=) c.3228C>A (p.Arg1076=) |