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.150946814_150947018del | CA2697557661 | KCNH2 | n.4027_4163+68del c.3194_3330+68del c.2174_2310+68del c.2894_3030+68del c.3044_3180+68del c.3017_3153+68del | ClinVar |
| 7 | g.150946945_150946962del | CA2685600727 | KCNH2 | n.4082_4099del c.3249_3266del (p.Pro1084_Thr1089del) c.2229_2246del (p.Pro744_Thr749del) c.2949_2966del (p.Pro984_Thr989del) c.3099_3116del (p.Pro1034_Thr1039del) c.3072_3089del (p.Pro1025_Thr1030del) | gnomAD v4 |
| 7 | g.150946947_150946957del | CA2695208690 | KCNH2 | n.4085_4095del c.3252_3262del (p.Gly1085HisfsTer?) c.2232_2242del (p.Gly745HisfsTer?) c.2952_2962del (p.Gly985HisfsTer?) c.3102_3112del (p.Gly1035HisfsTer?) c.3075_3085del (p.Gly1026HisfsTer?) | |
| 7 | g.150946955dup | CA2499218780 | KCNH2 | n.4088dup c.3255dup (p.Pro1086AlafsTer?) c.2235dup (p.Pro746AlafsTer?) c.2955dup (p.Pro986AlafsTer?) c.3105dup (p.Pro1036AlafsTer?) c.3078dup (p.Pro1027AlafsTer?) | ClinVar dbSNP |
| 7 | g.150946955del | CA16618396 | KCNH2 | n.4088del c.3255del (p.Pro1086LeufsTer?) c.2235del (p.Pro746LeufsTer?) c.2955del (p.Pro986LeufsTer?) c.3105del (p.Pro1036LeufsTer?) c.3078del (p.Pro1027LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150946954_150946955del | CA2695208691 | KCNH2 | n.4087_4088del c.3254_3255del (p.Gly1085AlafsTer?) c.2234_2235del (p.Gly745AlafsTer?) c.2954_2955del (p.Gly985AlafsTer?) c.3104_3105del (p.Gly1035AlafsTer?) c.3077_3078del (p.Gly1026AlafsTer?) | |
| 7 | g.150946955C>A | CA169071278 | KCNH2 | n.4085G>T c.3252G>T (p.Pro1084=) c.2232G>T (p.Pro744=) c.2952G>T (p.Pro984=) c.3102G>T (p.Pro1034=) c.3075G>T (p.Pro1025=) | dbSNP |
| 7 | g.150946955C= | CA1752427571 | KCNH2 | n.4085G= c.3252G= (p.Pro1084=) c.2232G= (p.Pro744=) c.2952G= (p.Pro984=) c.3102G= (p.Pro1034=) c.3075G= (p.Pro1025=) | |
| 7 | g.150946955C>G | CA458644705 | KCNH2 | n.4085G>C c.3252G>C (p.Pro1084=) c.2232G>C (p.Pro744=) c.2952G>C (p.Pro984=) c.3102G>C (p.Pro1034=) c.3075G>C (p.Pro1025=) | |
| 7 | g.150946955C>T | CA038138 | KCNH2 | n.4085G>A c.3252G>A (p.Pro1084=) c.2232G>A (p.Pro744=) c.2952G>A (p.Pro984=) c.3102G>A (p.Pro1034=) c.3075G>A (p.Pro1025=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946956G>A | CA038119 | KCNH2 | n.4084C>T c.3251C>T (p.Pro1084Leu) c.2231C>T (p.Pro744Leu) c.2951C>T (p.Pro984Leu) c.3101C>T (p.Pro1034Leu) c.3074C>T (p.Pro1025Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946956G>C | CA038100 | KCNH2 | n.4084C>G c.3251C>G (p.Pro1084Arg) c.2231C>G (p.Pro744Arg) c.2951C>G (p.Pro984Arg) c.3101C>G (p.Pro1034Arg) c.3074C>G (p.Pro1025Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150946956G= | CA1752427578 | KCNH2 | n.4084C= c.3251C= (p.Pro1084=) c.2231C= (p.Pro744=) c.2951C= (p.Pro984=) c.3101C= (p.Pro1034=) c.3074C= (p.Pro1025=) | |
| 7 | g.150946956G>T | CA369852104 | KCNH2 | n.4084C>A c.3251C>A (p.Pro1084Gln) c.2231C>A (p.Pro744Gln) c.2951C>A (p.Pro984Gln) c.3101C>A (p.Pro1034Gln) c.3074C>A (p.Pro1025Gln) | |
| 7 | g.150946959dup | CA305339 | KCNH2 | n.4084dup c.3251dup (p.Pro1086AlafsTer?) c.2231dup (p.Pro746AlafsTer?) c.2951dup (p.Pro986AlafsTer?) c.3101dup (p.Pro1036AlafsTer?) c.3074dup (p.Pro1027AlafsTer?) | ClinVar dbSNP |
| 7 | g.150946959del | CA2685600756 | KCNH2 | n.4084del c.3251del (p.Pro1084ArgfsTer?) c.2231del (p.Pro744ArgfsTer?) c.2951del (p.Pro984ArgfsTer?) c.3101del (p.Pro1034ArgfsTer?) c.3074del (p.Pro1025ArgfsTer?) | gnomAD v4 |
| 7 | g.150946956_150946962dup | CA2580077686 | KCNH2 | n.4078_4084dup c.3245_3251dup (p.Gly1085HisfsTer?) c.2225_2231dup (p.Gly745HisfsTer?) c.2945_2951dup (p.Gly985HisfsTer?) c.3095_3101dup (p.Gly1035HisfsTer?) c.3068_3074dup (p.Gly1026HisfsTer?) | ClinVar |
| 7 | g.150946957G>A | CA369852107 | KCNH2 | n.4083C>T c.3250C>T (p.Pro1084Ser) c.2230C>T (p.Pro744Ser) c.2950C>T (p.Pro984Ser) c.3100C>T (p.Pro1034Ser) c.3073C>T (p.Pro1025Ser) | |
| 7 | g.150946957G>C | CA369852105 | KCNH2 | n.4083C>G c.3250C>G (p.Pro1084Ala) c.2230C>G (p.Pro744Ala) c.2950C>G (p.Pro984Ala) c.3100C>G (p.Pro1034Ala) c.3073C>G (p.Pro1025Ala) | |
| 7 | g.150946957G>T | CA369852106 | KCNH2 | n.4083C>A c.3250C>A (p.Pro1084Thr) c.2230C>A (p.Pro744Thr) c.2950C>A (p.Pro984Thr) c.3100C>A (p.Pro1034Thr) c.3073C>A (p.Pro1025Thr) | COSMIC COSMIC |
| 7 | g.150946958G>A | CA458644707 | KCNH2 | n.4082C>T c.3249C>T (p.Thr1083=) c.2229C>T (p.Thr743=) c.2949C>T (p.Thr983=) c.3099C>T (p.Thr1033=) c.3072C>T (p.Thr1024=) | gnomAD v4 |
| 7 | g.150946958G>C | CA458644708 | KCNH2 | n.4082C>G c.3249C>G (p.Thr1083=) c.2229C>G (p.Thr743=) c.2949C>G (p.Thr983=) c.3099C>G (p.Thr1033=) c.3072C>G (p.Thr1024=) | |
| 7 | g.150946958G>T | CA458644709 | KCNH2 | n.4082C>A c.3249C>A (p.Thr1083=) c.2229C>A (p.Thr743=) c.2949C>A (p.Thr983=) c.3099C>A (p.Thr1033=) c.3072C>A (p.Thr1024=) | |
| 7 | g.150946959G>A | CA369852108 | KCNH2 | n.4081C>T c.3248C>T (p.Thr1083Ile) c.2228C>T (p.Thr743Ile) c.2948C>T (p.Thr983Ile) c.3098C>T (p.Thr1033Ile) c.3071C>T (p.Thr1024Ile) | ClinVar |
| 7 | g.150946959G>C | CA369852109 | KCNH2 | n.4081C>G c.3248C>G (p.Thr1083Ser) c.2228C>G (p.Thr743Ser) c.2948C>G (p.Thr983Ser) c.3098C>G (p.Thr1033Ser) c.3071C>G (p.Thr1024Ser) | |
| 7 | g.150946959G>T | CA369852110 | KCNH2 | n.4081C>A c.3248C>A (p.Thr1083Asn) c.2228C>A (p.Thr743Asn) c.2948C>A (p.Thr983Asn) c.3098C>A (p.Thr1033Asn) c.3071C>A (p.Thr1024Asn) | gnomAD v4 |
| 7 | g.150946960T>A | CA369852112 | KCNH2 | n.4080A>T c.3247A>T (p.Thr1083Ser) c.2227A>T (p.Thr743Ser) c.2947A>T (p.Thr983Ser) c.3097A>T (p.Thr1033Ser) c.3070A>T (p.Thr1024Ser) | |
| 7 | g.150946960T>C | CA008140 | KCNH2 | n.4080A>G c.3247A>G (p.Thr1083Ala) c.2227A>G (p.Thr743Ala) c.2947A>G (p.Thr983Ala) c.3097A>G (p.Thr1033Ala) c.3070A>G (p.Thr1024Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946960T>G | CA369852113 | KCNH2 | n.4080A>C c.3247A>C (p.Thr1083Pro) c.2227A>C (p.Thr743Pro) c.2947A>C (p.Thr983Pro) c.3097A>C (p.Thr1033Pro) c.3070A>C (p.Thr1024Pro) | |
| 7 | g.150946960T= | CA1752427585 | KCNH2 | n.4080A= c.3247A= (p.Thr1083=) c.2227A= (p.Thr743=) c.2947A= (p.Thr983=) c.3097A= (p.Thr1033=) c.3070A= (p.Thr1024=) | |
| 7 | g.150946961G>A | CA458644710 | KCNH2 | n.4079C>T c.3246C>T (p.Thr1082=) c.2226C>T (p.Thr742=) c.2946C>T (p.Thr982=) c.3096C>T (p.Thr1032=) c.3069C>T (p.Thr1023=) | |
| 7 | g.150946961G>C | CA458644712 | KCNH2 | n.4079C>G c.3246C>G (p.Thr1082=) c.2226C>G (p.Thr742=) c.2946C>G (p.Thr982=) c.3096C>G (p.Thr1032=) c.3069C>G (p.Thr1023=) | |
| 7 | g.150946961G>T | CA458644711 | KCNH2 | n.4079C>A c.3246C>A (p.Thr1082=) c.2226C>A (p.Thr742=) c.2946C>A (p.Thr982=) c.3096C>A (p.Thr1032=) c.3069C>A (p.Thr1023=) | ClinVar dbSNP |
| 7 | g.150946962G>A | CA369852114 | KCNH2 | n.4078C>T c.3245C>T (p.Thr1082Ile) c.2225C>T (p.Thr742Ile) c.2945C>T (p.Thr982Ile) c.3095C>T (p.Thr1032Ile) c.3068C>T (p.Thr1023Ile) | |
| 7 | g.150946962G>C | CA369852116 | KCNH2 | n.4078C>G c.3245C>G (p.Thr1082Ser) c.2225C>G (p.Thr742Ser) c.2945C>G (p.Thr982Ser) c.3095C>G (p.Thr1032Ser) c.3068C>G (p.Thr1023Ser) | dbSNP |
| 7 | g.150946962G= | CA1752427592 | KCNH2 | n.4078C= c.3245C= (p.Thr1082=) c.2225C= (p.Thr742=) c.2945C= (p.Thr982=) c.3095C= (p.Thr1032=) c.3068C= (p.Thr1023=) | |
| 7 | g.150946962G>T | CA369852115 | KCNH2 | n.4078C>A c.3245C>A (p.Thr1082Asn) c.2225C>A (p.Thr742Asn) c.2945C>A (p.Thr982Asn) c.3095C>A (p.Thr1032Asn) c.3068C>A (p.Thr1023Asn) | |
| 7 | g.150946963T>A | CA369852117 | KCNH2 | n.4077A>T c.3244A>T (p.Thr1082Ser) c.2224A>T (p.Thr742Ser) c.2944A>T (p.Thr982Ser) c.3094A>T (p.Thr1032Ser) c.3067A>T (p.Thr1023Ser) | |
| 7 | g.150946963T>C | CA369852119 | KCNH2 | n.4077A>G c.3244A>G (p.Thr1082Ala) c.2224A>G (p.Thr742Ala) c.2944A>G (p.Thr982Ala) c.3094A>G (p.Thr1032Ala) c.3067A>G (p.Thr1023Ala) | |
| 7 | g.150946963T>G | CA369852121 | KCNH2 | n.4077A>C c.3244A>C (p.Thr1082Pro) c.2224A>C (p.Thr742Pro) c.2944A>C (p.Thr982Pro) c.3094A>C (p.Thr1032Pro) c.3067A>C (p.Thr1023Pro) | |
| 7 | g.150946964C>A | CA458644713 | KCNH2 | n.4076G>T c.3243G>T (p.Val1081=) c.2223G>T (p.Val741=) c.2943G>T (p.Val981=) c.3093G>T (p.Val1031=) c.3066G>T (p.Val1022=) | |
| 7 | g.150946964C>G | CA458644714 | KCNH2 | n.4076G>C c.3243G>C (p.Val1081=) c.2223G>C (p.Val741=) c.2943G>C (p.Val981=) c.3093G>C (p.Val1031=) c.3066G>C (p.Val1022=) | |
| 7 | g.150946964C>T | CA458644715 | KCNH2 | n.4076G>A c.3243G>A (p.Val1081=) c.2223G>A (p.Val741=) c.2943G>A (p.Val981=) c.3093G>A (p.Val1031=) c.3066G>A (p.Val1022=) | |
| 7 | g.150946965A>C | CA369852123 | KCNH2 | n.4075T>G c.3242T>G (p.Val1081Gly) c.2222T>G (p.Val741Gly) c.2942T>G (p.Val981Gly) c.3092T>G (p.Val1031Gly) c.3065T>G (p.Val1022Gly) | |
| 7 | g.150946965A>G | CA369852124 | KCNH2 | n.4075T>C c.3242T>C (p.Val1081Ala) c.2222T>C (p.Val741Ala) c.2942T>C (p.Val981Ala) c.3092T>C (p.Val1031Ala) c.3065T>C (p.Val1022Ala) | |
| 7 | g.150946965A>T | CA369852125 | KCNH2 | n.4075T>A c.3242T>A (p.Val1081Glu) c.2222T>A (p.Val741Glu) c.2942T>A (p.Val981Glu) c.3092T>A (p.Val1031Glu) c.3065T>A (p.Val1022Glu) | |
| 7 | g.150946966C>A | CA369852128 | KCNH2 | n.4074G>T c.3241G>T (p.Val1081Leu) c.2221G>T (p.Val741Leu) c.2941G>T (p.Val981Leu) c.3091G>T (p.Val1031Leu) c.3064G>T (p.Val1022Leu) | |
| 7 | g.150946966C= | CA1752427596 | KCNH2 | n.4074G= c.3241G= (p.Val1081=) c.2221G= (p.Val741=) c.2941G= (p.Val981=) c.3091G= (p.Val1031=) c.3064G= (p.Val1022=) | |
| 7 | g.150946966C>G | CA369852129 | KCNH2 | n.4074G>C c.3241G>C (p.Val1081Leu) c.2221G>C (p.Val741Leu) c.2941G>C (p.Val981Leu) c.3091G>C (p.Val1031Leu) c.3064G>C (p.Val1022Leu) | |
| 7 | g.150946966C>T | CA369852131 | KCNH2 | n.4074G>A c.3241G>A (p.Val1081Met) c.2221G>A (p.Val741Met) c.2941G>A (p.Val981Met) c.3091G>A (p.Val1031Met) c.3064G>A (p.Val1022Met) | dbSNP gnomAD v2 |