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.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150947723_150947735del | CA2580077744 | KCNH2 | n.3673_3685del c.2840_2852del (p.Gly947AlafsTer23) c.1820_1832del (p.Gly607AlafsTer23) c.2540_2552del (p.Gly847AlafsTer23) c.2693-40_2693-28del (n.2693-40_2693-28del) c.2690_2702del (p.Gly897AlafsTer23) c.2663_2675del (p.Gly888AlafsTer23) | ClinVar |
| 7 | g.150947722G>A | CA369853269 | KCNH2 | n.3682C>T c.2849C>T (p.Ser950Phe) c.1829C>T (p.Ser610Phe) c.2549C>T (p.Ser850Phe) c.2693-31C>T (n.2693-31C>T) c.2699C>T (p.Ser900Phe) c.2672C>T (p.Ser891Phe) | |
| 7 | g.150947722G>C | CA369853270 | KCNH2 | n.3682C>G c.2849C>G (p.Ser950Cys) c.1829C>G (p.Ser610Cys) c.2549C>G (p.Ser850Cys) c.2693-31C>G (n.2693-31C>G) c.2699C>G (p.Ser900Cys) c.2672C>G (p.Ser891Cys) | |
| 7 | g.150947722G>T | CA369853271 | KCNH2 | n.3682C>A c.2849C>A (p.Ser950Tyr) c.1829C>A (p.Ser610Tyr) c.2549C>A (p.Ser850Tyr) c.2693-31C>A (n.2693-31C>A) c.2699C>A (p.Ser900Tyr) c.2672C>A (p.Ser891Tyr) | |
| 7 | g.150947723A>C | CA369853272 | KCNH2 | n.3681T>G c.2848T>G (p.Ser950Ala) c.1828T>G (p.Ser610Ala) c.2548T>G (p.Ser850Ala) c.2693-32T>G (n.2693-32T>G) c.2698T>G (p.Ser900Ala) c.2671T>G (p.Ser891Ala) | |
| 7 | g.150947723A>G | CA369853274 | KCNH2 | n.3681T>C c.2848T>C (p.Ser950Pro) c.1828T>C (p.Ser610Pro) c.2548T>C (p.Ser850Pro) c.2693-32T>C (n.2693-32T>C) c.2698T>C (p.Ser900Pro) c.2671T>C (p.Ser891Pro) | gnomAD v4 |
| 7 | g.150947723A>T | CA369853273 | KCNH2 | n.3681T>A c.2848T>A (p.Ser950Thr) c.1828T>A (p.Ser610Thr) c.2548T>A (p.Ser850Thr) c.2693-32T>A (n.2693-32T>A) c.2698T>A (p.Ser900Thr) c.2671T>A (p.Ser891Thr) | |
| 7 | g.150947724G>A | CA458871013 | KCNH2 | n.3680C>T c.2847C>T (p.Ser949=) c.1827C>T (p.Ser609=) c.2547C>T (p.Ser849=) c.2693-33C>T (n.2693-33C>T) c.2697C>T (p.Ser899=) c.2670C>T (p.Ser890=) | |
| 7 | g.150947724G>C | CA035057 | KCNH2 | n.3680C>G c.2847C>G (p.Ser949Arg) c.1827C>G (p.Ser609Arg) c.2547C>G (p.Ser849Arg) c.2693-33C>G (n.2693-33C>G) c.2697C>G (p.Ser899Arg) c.2670C>G (p.Ser890Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947724G= | CA1752430115 | KCNH2 | n.3680C= c.2847C= (p.Ser949=) c.1827C= (p.Ser609=) c.2547C= (p.Ser849=) c.2693-33C= (n.2693-33C=) c.2697C= (p.Ser899=) c.2670C= (p.Ser890=) | |
| 7 | g.150947724G>T | CA369853275 | KCNH2 | n.3680C>A c.2847C>A (p.Ser949Arg) c.1827C>A (p.Ser609Arg) c.2547C>A (p.Ser849Arg) c.2693-33C>A (n.2693-33C>A) c.2697C>A (p.Ser899Arg) c.2670C>A (p.Ser890Arg) | gnomAD v4 |
| 7 | g.150947725C>A | CA369853276 | KCNH2 | n.3679G>T c.2846G>T (p.Ser949Ile) c.1826G>T (p.Ser609Ile) c.2546G>T (p.Ser849Ile) c.2693-34G>T (n.2693-34G>T) c.2696G>T (p.Ser899Ile) c.2669G>T (p.Ser890Ile) | ClinVar gnomAD v4 |
| 7 | g.150947725C= | CA1752430122 | KCNH2 | n.3679G= c.2846G= (p.Ser949=) c.1826G= (p.Ser609=) c.2546G= (p.Ser849=) c.2693-34G= (n.2693-34G=) c.2696G= (p.Ser899=) c.2669G= (p.Ser890=) | |
| 7 | g.150947725C>G | CA369853277 | KCNH2 | n.3679G>C c.2846G>C (p.Ser949Thr) c.1826G>C (p.Ser609Thr) c.2546G>C (p.Ser849Thr) c.2693-34G>C (n.2693-34G>C) c.2696G>C (p.Ser899Thr) c.2669G>C (p.Ser890Thr) | |
| 7 | g.150947725C>T | CA369853278 | KCNH2 | n.3679G>A c.2846G>A (p.Ser949Asn) c.1826G>A (p.Ser609Asn) c.2546G>A (p.Ser849Asn) c.2693-34G>A (n.2693-34G>A) c.2696G>A (p.Ser899Asn) c.2669G>A (p.Ser890Asn) | dbSNP gnomAD v2 |
| 7 | g.150947729_150947752del | CA2579062904 | KCNH2 | n.3656_3679del c.2823_2846del (p.Glu942_Ser949del) c.1803_1826del (p.Glu602_Ser609del) c.2523_2546del (p.Glu842_Ser849del) c.2693-57_2693-34del (n.2693-57_2693-34del) c.2673_2696del (p.Glu892_Ser899del) c.2646_2669del (p.Glu883_Ser890del) | ClinVar gnomAD v4 |
| 7 | g.150947726T>A | CA369853279 | KCNH2 | n.3678A>T c.2845A>T (p.Ser949Cys) c.1825A>T (p.Ser609Cys) c.2545A>T (p.Ser849Cys) c.2693-35A>T (n.2693-35A>T) c.2695A>T (p.Ser899Cys) c.2668A>T (p.Ser890Cys) | |
| 7 | g.150947726T>C | CA369853280 | KCNH2 | n.3678A>G c.2845A>G (p.Ser949Gly) c.1825A>G (p.Ser609Gly) c.2545A>G (p.Ser849Gly) c.2693-35A>G (n.2693-35A>G) c.2695A>G (p.Ser899Gly) c.2668A>G (p.Ser890Gly) | gnomAD v4 |
| 7 | g.150947726T>G | CA369853281 | KCNH2 | n.3678A>C c.2845A>C (p.Ser949Arg) c.1825A>C (p.Ser609Arg) c.2545A>C (p.Ser849Arg) c.2693-35A>C (n.2693-35A>C) c.2695A>C (p.Ser899Arg) c.2668A>C (p.Ser890Arg) | gnomAD v4 |
| 7 | g.150947727G>A | CA458871017 | KCNH2 | n.3677C>T c.2844C>T (p.Arg948=) c.1824C>T (p.Arg608=) c.2544C>T (p.Arg848=) c.2693-36C>T (n.2693-36C>T) c.2694C>T (p.Arg898=) c.2667C>T (p.Arg889=) | gnomAD v4 |
| 7 | g.150947727G>C | CA458871019 | KCNH2 | n.3677C>G c.2844C>G (p.Arg948=) c.1824C>G (p.Arg608=) c.2544C>G (p.Arg848=) c.2693-36C>G (n.2693-36C>G) c.2694C>G (p.Arg898=) c.2667C>G (p.Arg889=) | |
| 7 | g.150947727G>T | CA458871018 | KCNH2 | n.3677C>A c.2844C>A (p.Arg948=) c.1824C>A (p.Arg608=) c.2544C>A (p.Arg848=) c.2693-36C>A (n.2693-36C>A) c.2694C>A (p.Arg898=) c.2667C>A (p.Arg889=) | gnomAD v4 |
| 7 | g.150947728C>A | CA369853282 | KCNH2 | n.3676G>T c.2843G>T (p.Arg948Leu) c.1823G>T (p.Arg608Leu) c.2543G>T (p.Arg848Leu) c.2693-37G>T (n.2693-37G>T) c.2693G>T (p.Arg898Leu) c.2666G>T (p.Arg889Leu) | gnomAD v4 |
| 7 | g.150947728C= | CA1752430125 | KCNH2 | n.3676G= c.2843G= (p.Arg948=) c.1823G= (p.Arg608=) c.2543G= (p.Arg848=) c.2693-37G= (n.2693-37G=) c.2693G= (p.Arg898=) c.2666G= (p.Arg889=) | |
| 7 | g.150947728C>G | CA369853283 | KCNH2 | n.3676G>C c.2843G>C (p.Arg948Pro) c.1823G>C (p.Arg608Pro) c.2543G>C (p.Arg848Pro) c.2693-37G>C (n.2693-37G>C) c.2693G>C (p.Arg898Pro) c.2666G>C (p.Arg889Pro) | |
| 7 | g.150947728C>T | CA007504 | KCNH2 | n.3676G>A c.2843G>A (p.Arg948His) c.1823G>A (p.Arg608His) c.2543G>A (p.Arg848His) c.2693-37G>A (n.2693-37G>A) c.2693G>A (p.Arg898His) c.2666G>A (p.Arg889His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947729G>A | CA007496 | KCNH2 | n.3675C>T c.2842C>T (p.Arg948Cys) c.1822C>T (p.Arg608Cys) c.2542C>T (p.Arg848Cys) c.2693-38C>T (n.2693-38C>T) c.2692C>T (p.Arg898Cys) c.2665C>T (p.Arg889Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947729G>C | CA369853284 | KCNH2 | n.3675C>G c.2842C>G (p.Arg948Gly) c.1822C>G (p.Arg608Gly) c.2542C>G (p.Arg848Gly) c.2693-38C>G (n.2693-38C>G) c.2692C>G (p.Arg898Gly) c.2665C>G (p.Arg889Gly) | COSMIC COSMIC |
| 7 | g.150947729G= | CA1752430130 | KCNH2 | n.3675C= c.2842C= (p.Arg948=) c.1822C= (p.Arg608=) c.2542C= (p.Arg848=) c.2693-38C= (n.2693-38C=) c.2692C= (p.Arg898=) c.2665C= (p.Arg889=) | |
| 7 | g.150947729G>T | CA007486 | KCNH2 | n.3675C>A c.2842C>A (p.Arg948Ser) c.1822C>A (p.Arg608Ser) c.2542C>A (p.Arg848Ser) c.2693-38C>A (n.2693-38C>A) c.2692C>A (p.Arg898Ser) c.2665C>A (p.Arg889Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947730G>A | CA458871021 | KCNH2 | n.3674C>T c.2841C>T (p.Gly947=) c.1821C>T (p.Gly607=) c.2541C>T (p.Gly847=) c.2693-39C>T (n.2693-39C>T) c.2691C>T (p.Gly897=) c.2664C>T (p.Gly888=) | gnomAD v4 |
| 7 | g.150947730G>C | CA458871023 | KCNH2 | n.3674C>G c.2841C>G (p.Gly947=) c.1821C>G (p.Gly607=) c.2541C>G (p.Gly847=) c.2693-39C>G (n.2693-39C>G) c.2691C>G (p.Gly897=) c.2664C>G (p.Gly888=) | |
| 7 | g.150947730G>T | CA458871026 | KCNH2 | n.3674C>A c.2841C>A (p.Gly947=) c.1821C>A (p.Gly607=) c.2541C>A (p.Gly847=) c.2693-39C>A (n.2693-39C>A) c.2691C>A (p.Gly897=) c.2664C>A (p.Gly888=) | gnomAD v4 |
| 7 | g.150947731C>A | CA369853285 | KCNH2 | n.3673G>T c.2840G>T (p.Gly947Val) c.1820G>T (p.Gly607Val) c.2540G>T (p.Gly847Val) c.2693-40G>T (n.2693-40G>T) c.2690G>T (p.Gly897Val) c.2663G>T (p.Gly888Val) | gnomAD v4 |
| 7 | g.150947731C= | CA1752430138 | KCNH2 | n.3673G= c.2840G= (p.Gly947=) c.1820G= (p.Gly607=) c.2540G= (p.Gly847=) c.2693-40G= (n.2693-40G=) c.2690G= (p.Gly897=) c.2663G= (p.Gly888=) | |
| 7 | g.150947731C>G | CA369853287 | KCNH2 | n.3673G>C c.2840G>C (p.Gly947Ala) c.1820G>C (p.Gly607Ala) c.2540G>C (p.Gly847Ala) c.2693-40G>C (n.2693-40G>C) c.2690G>C (p.Gly897Ala) c.2663G>C (p.Gly888Ala) | |
| 7 | g.150947731C>T | CA369853286 | KCNH2 | n.3673G>A c.2840G>A (p.Gly947Asp) c.1820G>A (p.Gly607Asp) c.2540G>A (p.Gly847Asp) c.2693-40G>A (n.2693-40G>A) c.2690G>A (p.Gly897Asp) c.2663G>A (p.Gly888Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947732C>A | CA369853288 | KCNH2 | n.3672G>T c.2839G>T (p.Gly947Cys) c.1819G>T (p.Gly607Cys) c.2539G>T (p.Gly847Cys) c.2693-41G>T (n.2693-41G>T) c.2689G>T (p.Gly897Cys) c.2662G>T (p.Gly888Cys) | gnomAD v4 |
| 7 | g.150947732C>G | CA369853290 | KCNH2 | n.3672G>C c.2839G>C (p.Gly947Arg) c.1819G>C (p.Gly607Arg) c.2539G>C (p.Gly847Arg) c.2693-41G>C (n.2693-41G>C) c.2689G>C (p.Gly897Arg) c.2662G>C (p.Gly888Arg) | |
| 7 | g.150947732C>T | CA369853289 | KCNH2 | n.3672G>A c.2839G>A (p.Gly947Ser) c.1819G>A (p.Gly607Ser) c.2539G>A (p.Gly847Ser) c.2693-41G>A (n.2693-41G>A) c.2689G>A (p.Gly897Ser) c.2662G>A (p.Gly888Ser) | |
| 7 | g.150947733T>A | CA458871027 | KCNH2 | n.3671A>T c.2838A>T (p.Pro946=) c.1818A>T (p.Pro606=) c.2538A>T (p.Pro846=) c.2693-42A>T (n.2693-42A>T) c.2688A>T (p.Pro896=) c.2661A>T (p.Pro887=) | |
| 7 | g.150947733T>C | CA458871028 | KCNH2 | n.3671A>G c.2838A>G (p.Pro946=) c.1818A>G (p.Pro606=) c.2538A>G (p.Pro846=) c.2693-42A>G (n.2693-42A>G) c.2688A>G (p.Pro896=) c.2661A>G (p.Pro887=) | gnomAD v4 |
| 7 | g.150947733T>G | CA458871029 | KCNH2 | n.3671A>C c.2838A>C (p.Pro946=) c.1818A>C (p.Pro606=) c.2538A>C (p.Pro846=) c.2693-42A>C (n.2693-42A>C) c.2688A>C (p.Pro896=) c.2661A>C (p.Pro887=) | gnomAD v4 |
| 7 | g.150947734G>A | CA369853291 | KCNH2 | n.3670C>T c.2837C>T (p.Pro946Leu) c.1817C>T (p.Pro606Leu) c.2537C>T (p.Pro846Leu) c.2693-43C>T (n.2693-43C>T) c.2687C>T (p.Pro896Leu) c.2660C>T (p.Pro887Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947734G>C | CA369853292 | KCNH2 | n.3670C>G c.2837C>G (p.Pro946Arg) c.1817C>G (p.Pro606Arg) c.2537C>G (p.Pro846Arg) c.2693-43C>G (n.2693-43C>G) c.2687C>G (p.Pro896Arg) c.2660C>G (p.Pro887Arg) | |
| 7 | g.150947734G= | CA1752430139 | KCNH2 | n.3670C= c.2837C= (p.Pro946=) c.1817C= (p.Pro606=) c.2537C= (p.Pro846=) c.2693-43C= (n.2693-43C=) c.2687C= (p.Pro896=) c.2660C= (p.Pro887=) | |
| 7 | g.150947734G>T | CA369853293 | KCNH2 | n.3670C>A c.2837C>A (p.Pro946Gln) c.1817C>A (p.Pro606Gln) c.2537C>A (p.Pro846Gln) c.2693-43C>A (n.2693-43C>A) c.2687C>A (p.Pro896Gln) c.2660C>A (p.Pro887Gln) | gnomAD v4 |
| 7 | g.150947735G>A | CA369853294 | KCNH2 | n.3669C>T c.2836C>T (p.Pro946Ser) c.1816C>T (p.Pro606Ser) c.2536C>T (p.Pro846Ser) c.2693-44C>T (n.2693-44C>T) c.2686C>T (p.Pro896Ser) c.2659C>T (p.Pro887Ser) | dbSNP gnomAD v2 gnomAD v4 |