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 |
|---|---|---|---|---|---|
| 15 | g.66481830T>A | CA392936369 | MAP2K1 | c.578T>A (p.Leu193His) c.644T>A (p.Leu215His) c.497T>A (p.Leu166His) c.569-5398T>A (n.569-5398T>A) n.1002T>A c.695T>A (p.Leu232His) c.569-3164T>A (n.569-3164T>A) c.500T>A (p.Leu167His) c.116T>A (p.Leu39His) c.566T>A (p.Leu189His) | dbSNP |
| 15 | g.66481830T>C | CA16602654 | MAP2K1 | c.578T>C (p.Leu193Pro) c.644T>C (p.Leu215Pro) c.497T>C (p.Leu166Pro) c.569-5398T>C (n.569-5398T>C) n.1002T>C c.695T>C (p.Leu232Pro) c.569-3164T>C (n.569-3164T>C) c.500T>C (p.Leu167Pro) c.116T>C (p.Leu39Pro) c.566T>C (p.Leu189Pro) | ClinVar dbSNP |
| 15 | g.66481830T>G | CA392936370 | MAP2K1 | c.578T>G (p.Leu193Arg) c.644T>G (p.Leu215Arg) c.497T>G (p.Leu166Arg) c.569-5398T>G (n.569-5398T>G) n.1002T>G c.695T>G (p.Leu232Arg) c.569-3164T>G (n.569-3164T>G) c.500T>G (p.Leu167Arg) c.116T>G (p.Leu39Arg) c.566T>G (p.Leu189Arg) | |
| 15 | g.66481830T= | CA2184097442 | MAP2K1 | c.578T= (p.Leu193=) c.644T= (p.Leu215=) c.497T= (p.Leu166=) c.569-5398T= (n.569-5398T=) n.1002T= c.695T= (p.Leu232=) c.569-3164T= (n.569-3164T=) c.500T= (p.Leu167=) c.116T= (p.Leu39=) c.566T= (p.Leu189=) | |
| 15 | g.66481831C>A | CA490858419 | MAP2K1 | c.579C>A (p.Leu193=) c.645C>A (p.Leu215=) c.498C>A (p.Leu166=) c.569-5397C>A (n.569-5397C>A) n.1003C>A c.696C>A (p.Leu232=) c.569-3163C>A (n.569-3163C>A) c.501C>A (p.Leu167=) c.117C>A (p.Leu39=) c.567C>A (p.Leu189=) | |
| 15 | g.66481831C>G | CA490858421 | MAP2K1 | c.579C>G (p.Leu193=) c.645C>G (p.Leu215=) c.498C>G (p.Leu166=) c.569-5397C>G (n.569-5397C>G) n.1003C>G c.696C>G (p.Leu232=) c.569-3163C>G (n.569-3163C>G) c.501C>G (p.Leu167=) c.117C>G (p.Leu39=) c.567C>G (p.Leu189=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.66481831C>T | CA490858420 | MAP2K1 | c.579C>T (p.Leu193=) c.645C>T (p.Leu215=) c.498C>T (p.Leu166=) c.569-5397C>T (n.569-5397C>T) n.1003C>T c.696C>T (p.Leu232=) c.569-3163C>T (n.569-3163C>T) c.501C>T (p.Leu167=) c.117C>T (p.Leu39=) c.567C>T (p.Leu189=) | dbSNP |
| 15 | g.66481832A>C | CA392936372 | MAP2K1 | c.580A>C (p.Ile194Leu) c.646A>C (p.Ile216Leu) c.499A>C (p.Ile167Leu) c.569-5396A>C (n.569-5396A>C) n.1004A>C c.697A>C (p.Ile233Leu) c.569-3162A>C (n.569-3162A>C) c.502A>C (p.Ile168Leu) c.118A>C (p.Ile40Leu) c.568A>C (p.Ile190Leu) | dbSNP |
| 15 | g.66481832A>G | CA392936374 | MAP2K1 | c.580A>G (p.Ile194Val) c.646A>G (p.Ile216Val) c.499A>G (p.Ile167Val) c.569-5396A>G (n.569-5396A>G) n.1004A>G c.697A>G (p.Ile233Val) c.569-3162A>G (n.569-3162A>G) c.502A>G (p.Ile168Val) c.118A>G (p.Ile40Val) c.568A>G (p.Ile190Val) | dbSNP |
| 15 | g.66481832A>T | CA392936376 | MAP2K1 | c.580A>T (p.Ile194Phe) c.646A>T (p.Ile216Phe) c.499A>T (p.Ile167Phe) c.569-5396A>T (n.569-5396A>T) n.1004A>T c.697A>T (p.Ile233Phe) c.569-3162A>T (n.569-3162A>T) c.502A>T (p.Ile168Phe) c.118A>T (p.Ile40Phe) c.568A>T (p.Ile190Phe) | dbSNP |
| 15 | g.66481833T>A | CA392936378 | MAP2K1 | c.581T>A (p.Ile194Asn) c.647T>A (p.Ile216Asn) c.500T>A (p.Ile167Asn) c.569-5395T>A (n.569-5395T>A) n.1005T>A c.698T>A (p.Ile233Asn) c.569-3161T>A (n.569-3161T>A) c.503T>A (p.Ile168Asn) c.119T>A (p.Ile40Asn) c.569T>A (p.Ile190Asn) | dbSNP |
| 15 | g.66481833T>C | CA392936380 | MAP2K1 | c.581T>C (p.Ile194Thr) c.647T>C (p.Ile216Thr) c.500T>C (p.Ile167Thr) c.569-5395T>C (n.569-5395T>C) n.1005T>C c.698T>C (p.Ile233Thr) c.569-3161T>C (n.569-3161T>C) c.503T>C (p.Ile168Thr) c.119T>C (p.Ile40Thr) c.569T>C (p.Ile190Thr) | ClinVar dbSNP |
| 15 | g.66481833T>G | CA392936382 | MAP2K1 | c.581T>G (p.Ile194Ser) c.647T>G (p.Ile216Ser) c.500T>G (p.Ile167Ser) c.569-5395T>G (n.569-5395T>G) n.1005T>G c.698T>G (p.Ile233Ser) c.569-3161T>G (n.569-3161T>G) c.503T>G (p.Ile168Ser) c.119T>G (p.Ile40Ser) c.569T>G (p.Ile190Ser) | dbSNP |
| 15 | g.66481834C>A | CA490858422 | MAP2K1 | c.582C>A (p.Ile194=) c.648C>A (p.Ile216=) c.501C>A (p.Ile167=) c.569-5394C>A (n.569-5394C>A) n.1006C>A c.699C>A (p.Ile233=) c.569-3160C>A (n.569-3160C>A) c.504C>A (p.Ile168=) c.120C>A (p.Ile40=) c.570C>A (p.Ile190=) | |
| 15 | g.66481834C= | CA2184097445 | MAP2K1 | c.582C= (p.Ile194=) c.648C= (p.Ile216=) c.501C= (p.Ile167=) c.569-5394C= (n.569-5394C=) n.1006C= c.699C= (p.Ile233=) c.569-3160C= (n.569-3160C=) c.504C= (p.Ile168=) c.120C= (p.Ile40=) c.570C= (p.Ile190=) | |
| 15 | g.66481834C>G | CA392936383 | MAP2K1 | c.582C>G (p.Ile194Met) c.648C>G (p.Ile216Met) c.501C>G (p.Ile167Met) c.569-5394C>G (n.569-5394C>G) n.1006C>G c.699C>G (p.Ile233Met) c.569-3160C>G (n.569-3160C>G) c.504C>G (p.Ile168Met) c.120C>G (p.Ile40Met) c.570C>G (p.Ile190Met) | dbSNP |
| 15 | g.66481834C>T | CA134607 | MAP2K1 | c.582C>T (p.Ile194=) c.648C>T (p.Ile216=) c.501C>T (p.Ile167=) c.569-5394C>T (n.569-5394C>T) n.1006C>T c.699C>T (p.Ile233=) c.569-3160C>T (n.569-3160C>T) c.504C>T (p.Ile168=) c.120C>T (p.Ile40=) c.570C>T (p.Ile190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.66481835G>A | CA7623996 | MAP2K1 | c.583G>A (p.Asp195Asn) c.649G>A (p.Asp217Asn) c.502G>A (p.Asp168Asn) c.569-5393G>A (n.569-5393G>A) n.1007G>A c.700G>A (p.Asp234Asn) c.569-3159G>A (n.569-3159G>A) c.505G>A (p.Asp169Asn) c.121G>A (p.Asp41Asn) c.571G>A (p.Asp191Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.66481835G>C | CA392936386 | MAP2K1 | c.583G>C (p.Asp195His) c.649G>C (p.Asp217His) c.502G>C (p.Asp168His) c.569-5393G>C (n.569-5393G>C) n.1007G>C c.700G>C (p.Asp234His) c.569-3159G>C (n.569-3159G>C) c.505G>C (p.Asp169His) c.121G>C (p.Asp41His) c.571G>C (p.Asp191His) | dbSNP |
| 15 | g.66481835G= | CA2184097448 | MAP2K1 | c.583G= (p.Asp195=) c.649G= (p.Asp217=) c.502G= (p.Asp168=) c.569-5393G= (n.569-5393G=) n.1007G= c.700G= (p.Asp234=) c.569-3159G= (n.569-3159G=) c.505G= (p.Asp169=) c.121G= (p.Asp41=) c.571G= (p.Asp191=) | |
| 15 | g.66481835G>T | CA392936387 | MAP2K1 | c.583G>T (p.Asp195Tyr) c.649G>T (p.Asp217Tyr) c.502G>T (p.Asp168Tyr) c.569-5393G>T (n.569-5393G>T) n.1007G>T c.700G>T (p.Asp234Tyr) c.569-3159G>T (n.569-3159G>T) c.505G>T (p.Asp169Tyr) c.121G>T (p.Asp41Tyr) c.571G>T (p.Asp191Tyr) | |
| 15 | g.66481836A>C | CA392936393 | MAP2K1 | c.584A>C (p.Asp195Ala) c.650A>C (p.Asp217Ala) c.503A>C (p.Asp168Ala) c.569-5392A>C (n.569-5392A>C) n.1008A>C c.701A>C (p.Asp234Ala) c.569-3158A>C (n.569-3158A>C) c.506A>C (p.Asp169Ala) c.122A>C (p.Asp41Ala) c.572A>C (p.Asp191Ala) | dbSNP |
| 15 | g.66481836A>G | CA392936390 | MAP2K1 | c.584A>G (p.Asp195Gly) c.650A>G (p.Asp217Gly) c.503A>G (p.Asp168Gly) c.569-5392A>G (n.569-5392A>G) n.1008A>G c.701A>G (p.Asp234Gly) c.569-3158A>G (n.569-3158A>G) c.506A>G (p.Asp169Gly) c.122A>G (p.Asp41Gly) c.572A>G (p.Asp191Gly) | dbSNP |
| 15 | g.66481836A>T | CA392936391 | MAP2K1 | c.584A>T (p.Asp195Val) c.650A>T (p.Asp217Val) c.503A>T (p.Asp168Val) c.569-5392A>T (n.569-5392A>T) n.1008A>T c.701A>T (p.Asp234Val) c.569-3158A>T (n.569-3158A>T) c.506A>T (p.Asp169Val) c.122A>T (p.Asp41Val) c.572A>T (p.Asp191Val) | dbSNP |
| 15 | g.66481837C>A | CA392936395 | MAP2K1 | c.585C>A (p.Asp195Glu) c.651C>A (p.Asp217Glu) c.504C>A (p.Asp168Glu) c.569-5391C>A (n.569-5391C>A) n.1009C>A c.702C>A (p.Asp234Glu) c.569-3157C>A (n.569-3157C>A) c.507C>A (p.Asp169Glu) c.123C>A (p.Asp41Glu) c.573C>A (p.Asp191Glu) | |
| 15 | g.66481837C>G | CA392936397 | MAP2K1 | c.585C>G (p.Asp195Glu) c.651C>G (p.Asp217Glu) c.504C>G (p.Asp168Glu) c.569-5391C>G (n.569-5391C>G) n.1009C>G c.702C>G (p.Asp234Glu) c.569-3157C>G (n.569-3157C>G) c.507C>G (p.Asp169Glu) c.123C>G (p.Asp41Glu) c.573C>G (p.Asp191Glu) | dbSNP |
| 15 | g.66481837C>T | CA490858423 | MAP2K1 | c.585C>T (p.Asp195=) c.651C>T (p.Asp217=) c.504C>T (p.Asp168=) c.569-5391C>T (n.569-5391C>T) n.1009C>T c.702C>T (p.Asp234=) c.569-3157C>T (n.569-3157C>T) c.507C>T (p.Asp169=) c.123C>T (p.Asp41=) c.573C>T (p.Asp191=) | |
| 15 | g.66481838T>A | CA392936400 | MAP2K1 | c.586T>A (p.Ser196Thr) c.652T>A (p.Ser218Thr) c.505T>A (p.Ser169Thr) c.569-5390T>A (n.569-5390T>A) n.1010T>A c.703T>A (p.Ser235Thr) c.569-3156T>A (n.569-3156T>A) c.508T>A (p.Ser170Thr) c.124T>A (p.Ser42Thr) c.574T>A (p.Ser192Thr) | dbSNP |
| 15 | g.66481838T>C | CA392936402 | MAP2K1 | c.586T>C (p.Ser196Pro) c.652T>C (p.Ser218Pro) c.505T>C (p.Ser169Pro) c.569-5390T>C (n.569-5390T>C) n.1010T>C c.703T>C (p.Ser235Pro) c.569-3156T>C (n.569-3156T>C) c.508T>C (p.Ser170Pro) c.124T>C (p.Ser42Pro) c.574T>C (p.Ser192Pro) | ClinVar dbSNP |
| 15 | g.66481838T>G | CA392936403 | MAP2K1 | c.586T>G (p.Ser196Ala) c.652T>G (p.Ser218Ala) c.505T>G (p.Ser169Ala) c.569-5390T>G (n.569-5390T>G) n.1010T>G c.703T>G (p.Ser235Ala) c.569-3156T>G (n.569-3156T>G) c.508T>G (p.Ser170Ala) c.124T>G (p.Ser42Ala) c.574T>G (p.Ser192Ala) | |
| 15 | g.66481839C>A | CA392936405 | MAP2K1 | c.587C>A (p.Ser196Tyr) c.653C>A (p.Ser218Tyr) c.506C>A (p.Ser169Tyr) c.569-5389C>A (n.569-5389C>A) n.1011C>A c.704C>A (p.Ser235Tyr) c.569-3155C>A (n.569-3155C>A) c.509C>A (p.Ser170Tyr) c.125C>A (p.Ser42Tyr) c.575C>A (p.Ser192Tyr) | dbSNP |
| 15 | g.66481839C>G | CA392936406 | MAP2K1 | c.587C>G (p.Ser196Cys) c.653C>G (p.Ser218Cys) c.506C>G (p.Ser169Cys) c.569-5389C>G (n.569-5389C>G) n.1011C>G c.704C>G (p.Ser235Cys) c.569-3155C>G (n.569-3155C>G) c.509C>G (p.Ser170Cys) c.125C>G (p.Ser42Cys) c.575C>G (p.Ser192Cys) | dbSNP |
| 15 | g.66481839C>T | CA392936408 | MAP2K1 | c.587C>T (p.Ser196Phe) c.653C>T (p.Ser218Phe) c.506C>T (p.Ser169Phe) c.569-5389C>T (n.569-5389C>T) n.1011C>T c.704C>T (p.Ser235Phe) c.569-3155C>T (n.569-3155C>T) c.509C>T (p.Ser170Phe) c.125C>T (p.Ser42Phe) c.575C>T (p.Ser192Phe) | dbSNP |
| 15 | g.66481840C>A | CA490858425 | MAP2K1 | c.588C>A (p.Ser196=) c.654C>A (p.Ser218=) c.507C>A (p.Ser169=) c.569-5388C>A (n.569-5388C>A) n.1012C>A c.705C>A (p.Ser235=) c.569-3154C>A (n.569-3154C>A) c.510C>A (p.Ser170=) c.126C>A (p.Ser42=) c.576C>A (p.Ser192=) | dbSNP gnomAD v4 |
| 15 | g.66481840C>G | CA490858424 | MAP2K1 | c.588C>G (p.Ser196=) c.654C>G (p.Ser218=) c.507C>G (p.Ser169=) c.569-5388C>G (n.569-5388C>G) n.1012C>G c.705C>G (p.Ser235=) c.569-3154C>G (n.569-3154C>G) c.510C>G (p.Ser170=) c.126C>G (p.Ser42=) c.576C>G (p.Ser192=) | dbSNP |
| 15 | g.66481840C>T | CA490858426 | MAP2K1 | c.588C>T (p.Ser196=) c.654C>T (p.Ser218=) c.507C>T (p.Ser169=) c.569-5388C>T (n.569-5388C>T) n.1012C>T c.705C>T (p.Ser235=) c.569-3154C>T (n.569-3154C>T) c.510C>T (p.Ser170=) c.126C>T (p.Ser42=) c.576C>T (p.Ser192=) | dbSNP |
| 15 | g.66481841A= | CA2184097451 | MAP2K1 | c.589A= (p.Met197=) c.655A= (p.Met219=) c.508A= (p.Met170=) c.569-5387A= (n.569-5387A=) n.1013A= c.706A= (p.Met236=) c.569-3153A= (n.569-3153A=) c.511A= (p.Met171=) c.127A= (p.Met43=) c.577A= (p.Met193=) | |
| 15 | g.66481841A>C | CA392936410 | MAP2K1 | c.589A>C (p.Met197Leu) c.655A>C (p.Met219Leu) c.508A>C (p.Met170Leu) c.569-5387A>C (n.569-5387A>C) n.1013A>C c.706A>C (p.Met236Leu) c.569-3153A>C (n.569-3153A>C) c.511A>C (p.Met171Leu) c.127A>C (p.Met43Leu) c.577A>C (p.Met193Leu) | dbSNP |
| 15 | g.66481841A>G | CA392936412 | MAP2K1 | c.589A>G (p.Met197Val) c.655A>G (p.Met219Val) c.508A>G (p.Met170Val) c.569-5387A>G (n.569-5387A>G) n.1013A>G c.706A>G (p.Met236Val) c.569-3153A>G (n.569-3153A>G) c.511A>G (p.Met171Val) c.127A>G (p.Met43Val) c.577A>G (p.Met193Val) | dbSNP |
| 15 | g.66481841A>T | CA392936414 | MAP2K1 | c.589A>T (p.Met197Leu) c.655A>T (p.Met219Leu) c.508A>T (p.Met170Leu) c.569-5387A>T (n.569-5387A>T) n.1013A>T c.706A>T (p.Met236Leu) c.569-3153A>T (n.569-3153A>T) c.511A>T (p.Met171Leu) c.127A>T (p.Met43Leu) c.577A>T (p.Met193Leu) | dbSNP |
| 15 | g.66481842T>A | CA392936418 | MAP2K1 | c.590T>A (p.Met197Lys) c.656T>A (p.Met219Lys) c.509T>A (p.Met170Lys) c.569-5386T>A (n.569-5386T>A) n.1014T>A c.707T>A (p.Met236Lys) c.569-3152T>A (n.569-3152T>A) c.512T>A (p.Met171Lys) c.128T>A (p.Met43Lys) c.578T>A (p.Met193Lys) | dbSNP |
| 15 | g.66481842T>C | CA392936419 | MAP2K1 | c.590T>C (p.Met197Thr) c.656T>C (p.Met219Thr) c.509T>C (p.Met170Thr) c.569-5386T>C (n.569-5386T>C) n.1014T>C c.707T>C (p.Met236Thr) c.569-3152T>C (n.569-3152T>C) c.512T>C (p.Met171Thr) c.128T>C (p.Met43Thr) c.578T>C (p.Met193Thr) | dbSNP |
| 15 | g.66481842T>G | CA392936416 | MAP2K1 | c.590T>G (p.Met197Arg) c.656T>G (p.Met219Arg) c.509T>G (p.Met170Arg) c.569-5386T>G (n.569-5386T>G) n.1014T>G c.707T>G (p.Met236Arg) c.569-3152T>G (n.569-3152T>G) c.512T>G (p.Met171Arg) c.128T>G (p.Met43Arg) c.578T>G (p.Met193Arg) | dbSNP |
| 15 | g.66481843G>A | CA392936422 | MAP2K1 | c.591G>A (p.Met197Ile) c.657G>A (p.Met219Ile) c.510G>A (p.Met170Ile) c.569-5385G>A (n.569-5385G>A) n.1015G>A c.708G>A (p.Met236Ile) c.569-3151G>A (n.569-3151G>A) c.513G>A (p.Met171Ile) c.129G>A (p.Met43Ile) c.579G>A (p.Met193Ile) | dbSNP |
| 15 | g.66481843G>C | CA296119 | MAP2K1 | c.591G>C (p.Met197Ile) c.657G>C (p.Met219Ile) c.510G>C (p.Met170Ile) c.569-5385G>C (n.569-5385G>C) n.1015G>C c.708G>C (p.Met236Ile) c.569-3151G>C (n.569-3151G>C) c.513G>C (p.Met171Ile) c.129G>C (p.Met43Ile) c.579G>C (p.Met193Ile) | ClinVar dbSNP |
| 15 | g.66481843G= | CA2184097454 | MAP2K1 | c.591G= (p.Met197=) c.657G= (p.Met219=) c.510G= (p.Met170=) c.569-5385G= (n.569-5385G=) n.1015G= c.708G= (p.Met236=) c.569-3151G= (n.569-3151G=) c.513G= (p.Met171=) c.129G= (p.Met43=) c.579G= (p.Met193=) | |
| 15 | g.66481843G>T | CA392936424 | MAP2K1 | c.591G>T (p.Met197Ile) c.657G>T (p.Met219Ile) c.510G>T (p.Met170Ile) c.569-5385G>T (n.569-5385G>T) n.1015G>T c.708G>T (p.Met236Ile) c.569-3151G>T (n.569-3151G>T) c.513G>T (p.Met171Ile) c.129G>T (p.Met43Ile) c.579G>T (p.Met193Ile) | |
| 15 | g.66481844G>A | CA392936425 | MAP2K1 | c.592G>A (p.Ala198Thr) c.658G>A (p.Ala220Thr) c.511G>A (p.Ala171Thr) c.569-5384G>A (n.569-5384G>A) n.1016G>A c.709G>A (p.Ala237Thr) c.569-3150G>A (n.569-3150G>A) c.514G>A (p.Ala172Thr) c.130G>A (p.Ala44Thr) c.580G>A (p.Ala194Thr) | dbSNP |
| 15 | g.66481844G>C | CA392936427 | MAP2K1 | c.592G>C (p.Ala198Pro) c.658G>C (p.Ala220Pro) c.511G>C (p.Ala171Pro) c.569-5384G>C (n.569-5384G>C) n.1016G>C c.709G>C (p.Ala237Pro) c.569-3150G>C (n.569-3150G>C) c.514G>C (p.Ala172Pro) c.130G>C (p.Ala44Pro) c.580G>C (p.Ala194Pro) | dbSNP |
| 15 | g.66481844G>T | CA392936429 | MAP2K1 | c.592G>T (p.Ala198Ser) c.658G>T (p.Ala220Ser) c.511G>T (p.Ala171Ser) c.569-5384G>T (n.569-5384G>T) n.1016G>T c.709G>T (p.Ala237Ser) c.569-3150G>T (n.569-3150G>T) c.514G>T (p.Ala172Ser) c.130G>T (p.Ala44Ser) c.580G>T (p.Ala194Ser) | dbSNP |