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.150947000_150947005dup | CA835220684 | KCNH2 | n.4039_4044dup c.3206_3211dup (p.Gln1070_Met1071insArgGln) c.2186_2191dup (p.Gln730_Met731insArgGln) c.2906_2911dup (p.Gln970_Met971insArgGln) c.3056_3061dup (p.Gln1020_Met1021insArgGln) c.3029_3034dup (p.Gln1011_Met1012insArgGln) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947005_150947006del | CA2695208694 | KCNH2 | n.4035_4036del c.3202_3203del (p.Gln1068GlufsTer?) c.2182_2183del (p.Gln728GlufsTer?) c.2902_2903del (p.Gln968GlufsTer?) c.3052_3053del (p.Gln1018GlufsTer?) c.3025_3026del (p.Gln1009GlufsTer?) | |
| 7 | g.150947005G>A | CA369852264 | KCNH2 | n.4035C>T c.3202C>T (p.Gln1068Ter) c.2182C>T (p.Gln728Ter) c.2902C>T (p.Gln968Ter) c.3052C>T (p.Gln1018Ter) c.3025C>T (p.Gln1009Ter) | ClinVar dbSNP |
| 7 | g.150947005G>C | CA369852265 | KCNH2 | n.4035C>G c.3202C>G (p.Gln1068Glu) c.2182C>G (p.Gln728Glu) c.2902C>G (p.Gln968Glu) c.3052C>G (p.Gln1018Glu) c.3025C>G (p.Gln1009Glu) | |
| 7 | g.150947005G= | CA1752427731 | KCNH2 | n.4035C= c.3202C= (p.Gln1068=) c.2182C= (p.Gln728=) c.2902C= (p.Gln968=) c.3052C= (p.Gln1018=) c.3025C= (p.Gln1009=) | |
| 7 | g.150947005G>T | CA369852267 | KCNH2 | n.4035C>A c.3202C>A (p.Gln1068Lys) c.2182C>A (p.Gln728Lys) c.2902C>A (p.Gln968Lys) c.3052C>A (p.Gln1018Lys) c.3025C>A (p.Gln1009Lys) | |
| 7 | g.150947006T>A | CA458644739 | KCNH2 | n.4034A>T c.3201A>T (p.Leu1067=) c.2181A>T (p.Leu727=) c.2901A>T (p.Leu967=) c.3051A>T (p.Leu1017=) c.3024A>T (p.Leu1008=) | |
| 7 | g.150947006T>C | CA458644738 | KCNH2 | n.4034A>G c.3201A>G (p.Leu1067=) c.2181A>G (p.Leu727=) c.2901A>G (p.Leu967=) c.3051A>G (p.Leu1017=) c.3024A>G (p.Leu1008=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947006T>G | CA458644737 | KCNH2 | n.4034A>C c.3201A>C (p.Leu1067=) c.2181A>C (p.Leu727=) c.2901A>C (p.Leu967=) c.3051A>C (p.Leu1017=) c.3024A>C (p.Leu1008=) | |
| 7 | g.150947006T= | CA1752427734 | KCNH2 | n.4034A= c.3201A= (p.Leu1067=) c.2181A= (p.Leu727=) c.2901A= (p.Leu967=) c.3051A= (p.Leu1017=) c.3024A= (p.Leu1008=) | |
| 7 | g.150947007A>C | CA369852268 | KCNH2 | n.4033T>G c.3200T>G (p.Leu1067Arg) c.2180T>G (p.Leu727Arg) c.2900T>G (p.Leu967Arg) c.3050T>G (p.Leu1017Arg) c.3023T>G (p.Leu1008Arg) | |
| 7 | g.150947007A>G | CA369852270 | KCNH2 | n.4033T>C c.3200T>C (p.Leu1067Pro) c.2180T>C (p.Leu727Pro) c.2900T>C (p.Leu967Pro) c.3050T>C (p.Leu1017Pro) c.3023T>C (p.Leu1008Pro) | |
| 7 | g.150947007A>T | CA369852271 | KCNH2 | n.4033T>A c.3200T>A (p.Leu1067Gln) c.2180T>A (p.Leu727Gln) c.2900T>A (p.Leu967Gln) c.3050T>A (p.Leu1017Gln) c.3023T>A (p.Leu1008Gln) | |
| 7 | g.150947007dup | CA16042588 | KCNH2 | n.4033dup c.3200dup (p.Gln1068ThrfsTer?) c.2180dup (p.Gln728ThrfsTer?) c.2900dup (p.Gln968ThrfsTer?) c.3050dup (p.Gln1018ThrfsTer?) c.3023dup (p.Gln1009ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150947008G>A | CA458644740 | KCNH2 | n.4032C>T c.3199C>T (p.Leu1067=) c.2179C>T (p.Leu727=) c.2899C>T (p.Leu967=) c.3049C>T (p.Leu1017=) c.3022C>T (p.Leu1008=) | |
| 7 | g.150947008G>C | CA369852272 | KCNH2 | n.4032C>G c.3199C>G (p.Leu1067Val) c.2179C>G (p.Leu727Val) c.2899C>G (p.Leu967Val) c.3049C>G (p.Leu1017Val) c.3022C>G (p.Leu1008Val) | |
| 7 | g.150947008G>T | CA369852273 | KCNH2 | n.4032C>A c.3199C>A (p.Leu1067Ile) c.2179C>A (p.Leu727Ile) c.2899C>A (p.Leu967Ile) c.3049C>A (p.Leu1017Ile) c.3022C>A (p.Leu1008Ile) | |
| 7 | g.150947009_150947018del | CA2695208695 | KCNH2 | n.4023_4032del c.3190_3199del (p.Leu1064TyrfsTer5) c.2170_2179del (p.Leu724TyrfsTer5) c.2890_2899del (p.Leu964TyrfsTer5) c.3040_3049del (p.Leu1014TyrfsTer5) c.3013_3022del (p.Leu1005TyrfsTer5) | |
| 7 | g.150947009C>A | CA458644741 | KCNH2 | n.4031G>T c.3198G>T (p.Leu1066=) c.2178G>T (p.Leu726=) c.2898G>T (p.Leu966=) c.3048G>T (p.Leu1016=) c.3021G>T (p.Leu1007=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947009C= | CA1752427743 | KCNH2 | n.4031G= c.3198G= (p.Leu1066=) c.2178G= (p.Leu726=) c.2898G= (p.Leu966=) c.3048G= (p.Leu1016=) c.3021G= (p.Leu1007=) | |
| 7 | g.150947009C>G | CA458644743 | KCNH2 | n.4031G>C c.3198G>C (p.Leu1066=) c.2178G>C (p.Leu726=) c.2898G>C (p.Leu966=) c.3048G>C (p.Leu1016=) c.3021G>C (p.Leu1007=) | |
| 7 | g.150947009C>T | CA458644742 | KCNH2 | n.4031G>A c.3198G>A (p.Leu1066=) c.2178G>A (p.Leu726=) c.2898G>A (p.Leu966=) c.3048G>A (p.Leu1016=) c.3021G>A (p.Leu1007=) | |
| 7 | g.150947010A>C | CA369852278 | KCNH2 | n.4030T>G c.3197T>G (p.Leu1066Arg) c.2177T>G (p.Leu726Arg) c.2897T>G (p.Leu966Arg) c.3047T>G (p.Leu1016Arg) c.3020T>G (p.Leu1007Arg) | |
| 7 | g.150947010A>G | CA369852276 | KCNH2 | n.4030T>C c.3197T>C (p.Leu1066Pro) c.2177T>C (p.Leu726Pro) c.2897T>C (p.Leu966Pro) c.3047T>C (p.Leu1016Pro) c.3020T>C (p.Leu1007Pro) | |
| 7 | g.150947010A>T | CA369852274 | KCNH2 | n.4030T>A c.3197T>A (p.Leu1066Gln) c.2177T>A (p.Leu726Gln) c.2897T>A (p.Leu966Gln) c.3047T>A (p.Leu1016Gln) c.3020T>A (p.Leu1007Gln) | |
| 7 | g.150947011G>A | CA458644744 | KCNH2 | n.4029C>T c.3196C>T (p.Leu1066=) c.2176C>T (p.Leu726=) c.2896C>T (p.Leu966=) c.3046C>T (p.Leu1016=) c.3019C>T (p.Leu1007=) | ClinVar dbSNP |
| 7 | g.150947011G>C | CA008093 | KCNH2 | n.4029C>G c.3196C>G (p.Leu1066Val) c.2176C>G (p.Leu726Val) c.2896C>G (p.Leu966Val) c.3046C>G (p.Leu1016Val) c.3019C>G (p.Leu1007Val) | ClinVar dbSNP |
| 7 | g.150947011G= | CA1752427752 | KCNH2 | n.4029C= c.3196C= (p.Leu1066=) c.2176C= (p.Leu726=) c.2896C= (p.Leu966=) c.3046C= (p.Leu1016=) c.3019C= (p.Leu1007=) | |
| 7 | g.150947011G>T | CA369852280 | KCNH2 | n.4029C>A c.3196C>A (p.Leu1066Met) c.2176C>A (p.Leu726Met) c.2896C>A (p.Leu966Met) c.3046C>A (p.Leu1016Met) c.3019C>A (p.Leu1007Met) | |
| 7 | g.150947012C>A | CA369852282 | KCNH2 | n.4028G>T c.3195G>T (p.Gln1065His) c.2175G>T (p.Gln725His) c.2895G>T (p.Gln965His) c.3045G>T (p.Gln1015His) c.3018G>T (p.Gln1006His) | |
| 7 | g.150947012C>G | CA369852283 | KCNH2 | n.4028G>C c.3195G>C (p.Gln1065His) c.2175G>C (p.Gln725His) c.2895G>C (p.Gln965His) c.3045G>C (p.Gln1015His) c.3018G>C (p.Gln1006His) | |
| 7 | g.150947012C>T | CA458644745 | KCNH2 | n.4028G>A c.3195G>A (p.Gln1065=) c.2175G>A (p.Gln725=) c.2895G>A (p.Gln965=) c.3045G>A (p.Gln1015=) c.3018G>A (p.Gln1006=) | |
| 7 | g.150947013T>A | CA369852285 | KCNH2 | n.4027A>T c.3194A>T (p.Gln1065Leu) c.2174A>T (p.Gln725Leu) c.2894A>T (p.Gln965Leu) c.3044A>T (p.Gln1015Leu) c.3017A>T (p.Gln1006Leu) | |
| 7 | g.150947013T>C | CA369852286 | KCNH2 | n.4027A>G c.3194A>G (p.Gln1065Arg) c.2174A>G (p.Gln725Arg) c.2894A>G (p.Gln965Arg) c.3044A>G (p.Gln1015Arg) c.3017A>G (p.Gln1006Arg) | ClinVar |
| 7 | g.150947013T>G | CA369852288 | KCNH2 | n.4027A>C c.3194A>C (p.Gln1065Pro) c.2174A>C (p.Gln725Pro) c.2894A>C (p.Gln965Pro) c.3044A>C (p.Gln1015Pro) c.3017A>C (p.Gln1006Pro) | |
| 7 | g.150947014G>A | CA369852293 | KCNH2 | n.4026C>T c.3193C>T (p.Gln1065Ter) c.2173C>T (p.Gln725Ter) c.2893C>T (p.Gln965Ter) c.3043C>T (p.Gln1015Ter) c.3016C>T (p.Gln1006Ter) | ClinVar dbSNP |
| 7 | g.150947014G>C | CA369852292 | KCNH2 | n.4026C>G c.3193C>G (p.Gln1065Glu) c.2173C>G (p.Gln725Glu) c.2893C>G (p.Gln965Glu) c.3043C>G (p.Gln1015Glu) c.3016C>G (p.Gln1006Glu) | |
| 7 | g.150947014G= | CA1752427762 | KCNH2 | n.4026C= c.3193C= (p.Gln1065=) c.2173C= (p.Gln725=) c.2893C= (p.Gln965=) c.3043C= (p.Gln1015=) c.3016C= (p.Gln1006=) | |
| 7 | g.150947014G>T | CA369852290 | KCNH2 | n.4026C>A c.3193C>A (p.Gln1065Lys) c.2173C>A (p.Gln725Lys) c.2893C>A (p.Gln965Lys) c.3043C>A (p.Gln1015Lys) c.3016C>A (p.Gln1006Lys) | |
| 7 | g.150947015C>A | CA458644746 | KCNH2 | n.4025G>T c.3192G>T (p.Leu1064=) c.2172G>T (p.Leu724=) c.2892G>T (p.Leu964=) c.3042G>T (p.Leu1014=) c.3015G>T (p.Leu1005=) | |
| 7 | g.150947015C>G | CA458644747 | KCNH2 | n.4025G>C c.3192G>C (p.Leu1064=) c.2172G>C (p.Leu724=) c.2892G>C (p.Leu964=) c.3042G>C (p.Leu1014=) c.3015G>C (p.Leu1005=) | |
| 7 | g.150947015C>T | CA458644748 | KCNH2 | n.4025G>A c.3192G>A (p.Leu1064=) c.2172G>A (p.Leu724=) c.2892G>A (p.Leu964=) c.3042G>A (p.Leu1014=) c.3015G>A (p.Leu1005=) | gnomAD v4 |
| 7 | g.150947016A= | CA1752427768 | KCNH2 | n.4024T= c.3191T= (p.Leu1064=) c.2171T= (p.Leu724=) c.2891T= (p.Leu964=) c.3041T= (p.Leu1014=) c.3014T= (p.Leu1005=) | |
| 7 | g.150947016A>C | CA369852295 | KCNH2 | n.4024T>G c.3191T>G (p.Leu1064Arg) c.2171T>G (p.Leu724Arg) c.2891T>G (p.Leu964Arg) c.3041T>G (p.Leu1014Arg) c.3014T>G (p.Leu1005Arg) | ClinVar dbSNP |
| 7 | g.150947016A>G | CA369852297 | KCNH2 | n.4024T>C c.3191T>C (p.Leu1064Pro) c.2171T>C (p.Leu724Pro) c.2891T>C (p.Leu964Pro) c.3041T>C (p.Leu1014Pro) c.3014T>C (p.Leu1005Pro) | |
| 7 | g.150947016A>T | CA369852298 | KCNH2 | n.4024T>A c.3191T>A (p.Leu1064Gln) c.2171T>A (p.Leu724Gln) c.2891T>A (p.Leu964Gln) c.3041T>A (p.Leu1014Gln) c.3014T>A (p.Leu1005Gln) | |
| 7 | g.150947017G>A | CA458644749 | KCNH2 | n.4023C>T c.3190C>T (p.Leu1064=) c.2170C>T (p.Leu724=) c.2890C>T (p.Leu964=) c.3040C>T (p.Leu1014=) c.3013C>T (p.Leu1005=) | dbSNP gnomAD v2 |
| 7 | g.150947017G>C | CA369852300 | KCNH2 | n.4023C>G c.3190C>G (p.Leu1064Val) c.2170C>G (p.Leu724Val) c.2890C>G (p.Leu964Val) c.3040C>G (p.Leu1014Val) c.3013C>G (p.Leu1005Val) | |
| 7 | g.150947017G= | CA1752427774 | KCNH2 | n.4023C= c.3190C= (p.Leu1064=) c.2170C= (p.Leu724=) c.2890C= (p.Leu964=) c.3040C= (p.Leu1014=) c.3013C= (p.Leu1005=) |