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.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
| 7 | g.150947431_150947441del | CA2695208794 | KCNH2 | n.3872_3882del c.3039_3049del (p.Arg1014ProfsTer?) c.2019_2029del (p.Arg674ProfsTer?) c.2739_2749del (p.Arg914ProfsTer?) c.*119_*129del (n.*119_*129del) c.2889_2899del (p.Arg964ProfsTer?) c.2862_2872del (p.Arg955ProfsTer?) | |
| 7 | g.150947432_150947444del | CA2695208795 | KCNH2 | n.3869_3881del c.3036_3048del (p.Arg1014ProfsTer?) c.2016_2028del (p.Arg674ProfsTer?) c.2736_2748del (p.Arg914ProfsTer?) c.*116_*128del (n.*116_*128del) c.2886_2898del (p.Arg964ProfsTer?) c.2859_2871del (p.Arg955ProfsTer?) | |
| 7 | g.150947440G>A | CA007849 | KCNH2 | n.3873C>T c.3040C>T (p.Arg1014Ter) c.2020C>T (p.Arg674Ter) c.2740C>T (p.Arg914Ter) c.*120C>T (n.*120C>T) c.2890C>T (p.Arg964Ter) c.2863C>T (p.Arg955Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947440G>C | CA369852843 | KCNH2 | n.3873C>G c.3040C>G (p.Arg1014Gly) c.2020C>G (p.Arg674Gly) c.2740C>G (p.Arg914Gly) c.*120C>G (n.*120C>G) c.2890C>G (p.Arg964Gly) c.2863C>G (p.Arg955Gly) | |
| 7 | g.150947440G= | CA1752429329 | KCNH2 | n.3873C= c.3040C= (p.Arg1014=) c.2020C= (p.Arg674=) c.2740C= (p.Arg914=) c.*120C= (n.*120C=) c.2890C= (p.Arg964=) c.2863C= (p.Arg955=) | |
| 7 | g.150947440G>T | CA458644904 | KCNH2 | n.3873C>A c.3040C>A (p.Arg1014=) c.2020C>A (p.Arg674=) c.2740C>A (p.Arg914=) c.*120C>A (n.*120C>A) c.2890C>A (p.Arg964=) c.2863C>A (p.Arg955=) | |
| 7 | g.150947441del | CA2573141848 | KCNH2 | n.3872del c.3039del (p.Arg1014AspfsTer?) c.2019del (p.Arg674AspfsTer?) c.2739del (p.Arg914AspfsTer?) c.*119del (n.*119del) c.2889del (p.Arg964AspfsTer?) c.2862del (p.Arg955AspfsTer?) | ClinVar dbSNP |
| 7 | g.150947441A= | CA1752429330 | KCNH2 | n.3872T= c.3039T= (p.Pro1013=) c.2019T= (p.Pro673=) c.2739T= (p.Pro913=) c.*119T= (n.*119T=) c.2889T= (p.Pro963=) c.2862T= (p.Pro954=) | |
| 7 | g.150947441A>C | CA458644905 | KCNH2 | n.3872T>G c.3039T>G (p.Pro1013=) c.2019T>G (p.Pro673=) c.2739T>G (p.Pro913=) c.*119T>G (n.*119T>G) c.2889T>G (p.Pro963=) c.2862T>G (p.Pro954=) | |
| 7 | g.150947441A>G | CA458644906 | KCNH2 | n.3872T>C c.3039T>C (p.Pro1013=) c.2019T>C (p.Pro673=) c.2739T>C (p.Pro913=) c.*119T>C (n.*119T>C) c.2889T>C (p.Pro963=) c.2862T>C (p.Pro954=) | dbSNP gnomAD v4 |
| 7 | g.150947441A>T | CA458644907 | KCNH2 | n.3872T>A c.3039T>A (p.Pro1013=) c.2019T>A (p.Pro673=) c.2739T>A (p.Pro913=) c.*119T>A (n.*119T>A) c.2889T>A (p.Pro963=) c.2862T>A (p.Pro954=) | |
| 7 | g.150947442G>A | CA369852845 | KCNH2 | n.3871C>T c.3038C>T (p.Pro1013Leu) c.2018C>T (p.Pro673Leu) c.2738C>T (p.Pro913Leu) c.*118C>T (n.*118C>T) c.2888C>T (p.Pro963Leu) c.2861C>T (p.Pro954Leu) | gnomAD v4 |
| 7 | g.150947442G>C | CA369852847 | KCNH2 | n.3871C>G c.3038C>G (p.Pro1013Arg) c.2018C>G (p.Pro673Arg) c.2738C>G (p.Pro913Arg) c.*118C>G (n.*118C>G) c.2888C>G (p.Pro963Arg) c.2861C>G (p.Pro954Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947442G>T | CA369852848 | KCNH2 | n.3871C>A c.3038C>A (p.Pro1013His) c.2018C>A (p.Pro673His) c.2738C>A (p.Pro913His) c.*118C>A (n.*118C>A) c.2888C>A (p.Pro963His) c.2861C>A (p.Pro954His) | gnomAD v4 |
| 7 | g.150947444del | CA2579062775 | KCNH2 | n.3871del c.3038del (p.Pro1013LeufsTer?) c.2018del (p.Pro673LeufsTer?) c.2738del (p.Pro913LeufsTer?) c.*118del (n.*118del) c.2888del (p.Pro963LeufsTer?) c.2861del (p.Pro954LeufsTer?) | |
| 7 | g.150947443G>A | CA369852850 | KCNH2 | n.3870C>T c.3037C>T (p.Pro1013Ser) c.2017C>T (p.Pro673Ser) c.2737C>T (p.Pro913Ser) c.*117C>T (n.*117C>T) c.2887C>T (p.Pro963Ser) c.2860C>T (p.Pro954Ser) | gnomAD v4 |
| 7 | g.150947443G>C | CA369852852 | KCNH2 | n.3870C>G c.3037C>G (p.Pro1013Ala) c.2017C>G (p.Pro673Ala) c.2737C>G (p.Pro913Ala) c.*117C>G (n.*117C>G) c.2887C>G (p.Pro963Ala) c.2860C>G (p.Pro954Ala) | gnomAD v4 |
| 7 | g.150947443G>T | CA369852853 | KCNH2 | n.3870C>A c.3037C>A (p.Pro1013Thr) c.2017C>A (p.Pro673Thr) c.2737C>A (p.Pro913Thr) c.*117C>A (n.*117C>A) c.2887C>A (p.Pro963Thr) c.2860C>A (p.Pro954Thr) | gnomAD v4 |
| 7 | g.150947444G>A | CA458644911 | KCNH2 | n.3869C>T c.3036C>T (p.Leu1012=) c.2016C>T (p.Leu672=) c.2736C>T (p.Leu912=) c.*116C>T (n.*116C>T) c.2886C>T (p.Leu962=) c.2859C>T (p.Leu953=) | gnomAD v4 |
| 7 | g.150947444G>C | CA458644912 | KCNH2 | n.3869C>G c.3036C>G (p.Leu1012=) c.2016C>G (p.Leu672=) c.2736C>G (p.Leu912=) c.*116C>G (n.*116C>G) c.2886C>G (p.Leu962=) c.2859C>G (p.Leu953=) | gnomAD v4 |
| 7 | g.150947444G>T | CA458644913 | KCNH2 | n.3869C>A c.3036C>A (p.Leu1012=) c.2016C>A (p.Leu672=) c.2736C>A (p.Leu912=) c.*116C>A (n.*116C>A) c.2886C>A (p.Leu962=) c.2859C>A (p.Leu953=) | gnomAD v4 |
| 7 | g.150947445A>C | CA369852856 | KCNH2 | n.3868T>G c.3035T>G (p.Leu1012Arg) c.2015T>G (p.Leu672Arg) c.2735T>G (p.Leu912Arg) c.*115T>G (n.*115T>G) c.2885T>G (p.Leu962Arg) c.2858T>G (p.Leu953Arg) | |
| 7 | g.150947445A>G | CA369852857 | KCNH2 | n.3868T>C c.3035T>C (p.Leu1012Pro) c.2015T>C (p.Leu672Pro) c.2735T>C (p.Leu912Pro) c.*115T>C (n.*115T>C) c.2885T>C (p.Leu962Pro) c.2858T>C (p.Leu953Pro) | |
| 7 | g.150947445A>T | CA369852858 | KCNH2 | n.3868T>A c.3035T>A (p.Leu1012His) c.2015T>A (p.Leu672His) c.2735T>A (p.Leu912His) c.*115T>A (n.*115T>A) c.2885T>A (p.Leu962His) c.2858T>A (p.Leu953His) | |
| 7 | g.150947446G>A | CA369852860 | KCNH2 | n.3867C>T c.3034C>T (p.Leu1012Phe) c.2014C>T (p.Leu672Phe) c.2734C>T (p.Leu912Phe) c.*114C>T (n.*114C>T) c.2884C>T (p.Leu962Phe) c.2857C>T (p.Leu953Phe) | |
| 7 | g.150947446G>C | CA369852862 | KCNH2 | n.3867C>G c.3034C>G (p.Leu1012Val) c.2014C>G (p.Leu672Val) c.2734C>G (p.Leu912Val) c.*114C>G (n.*114C>G) c.2884C>G (p.Leu962Val) c.2857C>G (p.Leu953Val) | COSMIC COSMIC |
| 7 | g.150947446G>T | CA369852864 | KCNH2 | n.3867C>A c.3034C>A (p.Leu1012Ile) c.2014C>A (p.Leu672Ile) c.2734C>A (p.Leu912Ile) c.*114C>A (n.*114C>A) c.2884C>A (p.Leu962Ile) c.2857C>A (p.Leu953Ile) | gnomAD v4 |
| 7 | g.150947447C>A | CA369852865 | KCNH2 | n.3866G>T c.3033G>T (p.Glu1011Asp) c.2013G>T (p.Glu671Asp) c.2733G>T (p.Glu911Asp) c.*113G>T (n.*113G>T) c.2883G>T (p.Glu961Asp) c.2856G>T (p.Glu952Asp) | gnomAD v4 |
| 7 | g.150947447C>G | CA369852866 | KCNH2 | n.3866G>C c.3033G>C (p.Glu1011Asp) c.2013G>C (p.Glu671Asp) c.2733G>C (p.Glu911Asp) c.*113G>C (n.*113G>C) c.2883G>C (p.Glu961Asp) c.2856G>C (p.Glu952Asp) | |
| 7 | g.150947447C>T | CA458644915 | KCNH2 | n.3866G>A c.3033G>A (p.Glu1011=) c.2013G>A (p.Glu671=) c.2733G>A (p.Glu911=) c.*113G>A (n.*113G>A) c.2883G>A (p.Glu961=) c.2856G>A (p.Glu952=) | |
| 7 | g.150947448_150947449del | CA2695208796 | KCNH2 | n.3865_3866del c.3032_3033del (p.Glu1011AlafsTer?) c.2012_2013del (p.Glu671AlafsTer?) c.2732_2733del (p.Glu911AlafsTer?) c.*112_*113del (n.*112_*113del) c.2882_2883del (p.Glu961AlafsTer?) c.2855_2856del (p.Glu952AlafsTer?) | |
| 7 | g.150947448del | CA2499218785 | KCNH2 | n.3865del c.3032del (p.Glu1011GlyfsTer?) c.2012del (p.Glu671GlyfsTer?) c.2732del (p.Glu911GlyfsTer?) c.*112del (n.*112del) c.2882del (p.Glu961GlyfsTer?) c.2855del (p.Glu952GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947448T>A | CA369852870 | KCNH2 | n.3865A>T c.3032A>T (p.Glu1011Val) c.2012A>T (p.Glu671Val) c.2732A>T (p.Glu911Val) c.*112A>T (n.*112A>T) c.2882A>T (p.Glu961Val) c.2855A>T (p.Glu952Val) | gnomAD v4 |
| 7 | g.150947448T>C | CA369852872 | KCNH2 | n.3865A>G c.3032A>G (p.Glu1011Gly) c.2012A>G (p.Glu671Gly) c.2732A>G (p.Glu911Gly) c.*112A>G (n.*112A>G) c.2882A>G (p.Glu961Gly) c.2855A>G (p.Glu952Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947448T>G | CA369852869 | KCNH2 | n.3865A>C c.3032A>C (p.Glu1011Ala) c.2012A>C (p.Glu671Ala) c.2732A>C (p.Glu911Ala) c.*112A>C (n.*112A>C) c.2882A>C (p.Glu961Ala) c.2855A>C (p.Glu952Ala) | |
| 7 | g.150947448T= | CA1752429332 | KCNH2 | n.3865A= c.3032A= (p.Glu1011=) c.2012A= (p.Glu671=) c.2732A= (p.Glu911=) c.*112A= (n.*112A=) c.2882A= (p.Glu961=) c.2855A= (p.Glu952=) | |
| 7 | g.150947449C>A | CA369852876 | KCNH2 | n.3864G>T c.3031G>T (p.Glu1011Ter) c.2011G>T (p.Glu671Ter) c.2731G>T (p.Glu911Ter) c.*111G>T (n.*111G>T) c.2881G>T (p.Glu961Ter) c.2854G>T (p.Glu952Ter) | |
| 7 | g.150947449C= | CA1752429333 | KCNH2 | n.3864G= c.3031G= (p.Glu1011=) c.2011G= (p.Glu671=) c.2731G= (p.Glu911=) c.*111G= (n.*111G=) c.2881G= (p.Glu961=) c.2854G= (p.Glu952=) | |
| 7 | g.150947449C>G | CA369852878 | KCNH2 | n.3864G>C c.3031G>C (p.Glu1011Gln) c.2011G>C (p.Glu671Gln) c.2731G>C (p.Glu911Gln) c.*111G>C (n.*111G>C) c.2881G>C (p.Glu961Gln) c.2854G>C (p.Glu952Gln) | gnomAD v4 |
| 7 | g.150947449C>T | CA369852874 | KCNH2 | n.3864G>A c.3031G>A (p.Glu1011Lys) c.2011G>A (p.Glu671Lys) c.2731G>A (p.Glu911Lys) c.*111G>A (n.*111G>A) c.2881G>A (p.Glu961Lys) c.2854G>A (p.Glu952Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947450dup | CA169072055 | KCNH2 | n.3864dup c.3031dup (p.Glu1011GlyfsTer?) c.2011dup (p.Glu671GlyfsTer?) c.2731dup (p.Glu911GlyfsTer?) c.*111dup (n.*111dup) c.2881dup (p.Glu961GlyfsTer?) c.2854dup (p.Glu952GlyfsTer?) | dbSNP |
| 7 | g.150947450C>A | CA369852880 | KCNH2 | n.3863G>T c.3030G>T (p.Gln1010His) c.2010G>T (p.Gln670His) c.2730G>T (p.Gln910His) c.*110G>T (n.*110G>T) c.2880G>T (p.Gln960His) c.2853G>T (p.Gln951His) | gnomAD v4 |
| 7 | g.150947450C>G | CA369852879 | KCNH2 | n.3863G>C c.3030G>C (p.Gln1010His) c.2010G>C (p.Gln670His) c.2730G>C (p.Gln910His) c.*110G>C (n.*110G>C) c.2880G>C (p.Gln960His) c.2853G>C (p.Gln951His) | |
| 7 | g.150947450C>T | CA458644918 | KCNH2 | n.3863G>A c.3030G>A (p.Gln1010=) c.2010G>A (p.Gln670=) c.2730G>A (p.Gln910=) c.*110G>A (n.*110G>A) c.2880G>A (p.Gln960=) c.2853G>A (p.Gln951=) | |
| 7 | g.150947451T>A | CA369852884 | KCNH2 | n.3862A>T c.3029A>T (p.Gln1010Leu) c.2009A>T (p.Gln670Leu) c.2729A>T (p.Gln910Leu) c.*109A>T (n.*109A>T) c.2879A>T (p.Gln960Leu) c.2852A>T (p.Gln951Leu) | |
| 7 | g.150947451T>C | CA369852883 | KCNH2 | n.3862A>G c.3029A>G (p.Gln1010Arg) c.2009A>G (p.Gln670Arg) c.2729A>G (p.Gln910Arg) c.*109A>G (n.*109A>G) c.2879A>G (p.Gln960Arg) c.2852A>G (p.Gln951Arg) | gnomAD v4 |
| 7 | g.150947451T>G | CA369852885 | KCNH2 | n.3862A>C c.3029A>C (p.Gln1010Pro) c.2009A>C (p.Gln670Pro) c.2729A>C (p.Gln910Pro) c.*109A>C (n.*109A>C) c.2879A>C (p.Gln960Pro) c.2852A>C (p.Gln951Pro) |