UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863130C>A | CA414907242 | F8 | c.6527G>T (p.Ser2176Ile) c.260G>T (p.Ser87Ile) c.122G>T (p.Ser41Ile) c.6422G>T (p.Ser2141Ile) | |
| X | g.154863130C>G | CA414907244 | F8 | c.6527G>C (p.Ser2176Thr) c.260G>C (p.Ser87Thr) c.122G>C (p.Ser41Thr) c.6422G>C (p.Ser2141Thr) | |
| X | g.154863130C>T | CA414907247 | F8 | c.6527G>A (p.Ser2176Asn) c.260G>A (p.Ser87Asn) c.122G>A (p.Ser41Asn) c.6422G>A (p.Ser2141Asn) | |
| X | g.154863131T>A | CA414907251 | F8 | c.6526A>T (p.Ser2176Cys) c.259A>T (p.Ser87Cys) c.121A>T (p.Ser41Cys) c.6421A>T (p.Ser2141Cys) | |
| X | g.154863131T>C | CA414907252 | F8 | c.6526A>G (p.Ser2176Gly) c.259A>G (p.Ser87Gly) c.121A>G (p.Ser41Gly) c.6421A>G (p.Ser2141Gly) | |
| X | g.154863131T>G | CA414907253 | F8 | c.6526A>C (p.Ser2176Arg) c.259A>C (p.Ser87Arg) c.121A>C (p.Ser41Arg) c.6421A>C (p.Ser2141Arg) | |
| X | g.154863131_154863134delinsTATA | CA2466815634 | F8 | c.6523_6526delinsTATA (p.Tyr2175=) c.256_259delinsTATA (p.Tyr86=) c.118_121delinsTATA (p.Tyr40=) c.6418_6421delinsTATA (p.Tyr2140=) | |
| X | g.154863132A>C | CA414907265 | F8 | c.6525T>G (p.Tyr2175Ter) c.258T>G (p.Tyr86Ter) c.120T>G (p.Tyr40Ter) c.6420T>G (p.Tyr2140Ter) | |
| X | g.154863132A>G | CA519357869 | F8 | c.6525T>C (p.Tyr2175=) c.258T>C (p.Tyr86=) c.120T>C (p.Tyr40=) c.6420T>C (p.Tyr2140=) | |
| X | g.154863132A>T | CA414907257 | F8 | c.6525T>A (p.Tyr2175Ter) c.258T>A (p.Tyr86Ter) c.120T>A (p.Tyr40Ter) c.6420T>A (p.Tyr2140Ter) | |
| X | g.154863134_154863136del | CA1139667895 | F8 | c.6523_6525del (p.Tyr2175del) c.256_258del (p.Tyr86del) c.118_120del (p.Tyr40del) c.6418_6420del (p.Tyr2140del) | ClinVar dbSNP |
| X | g.154863133T>A | CA414907269 | F8 | c.6524A>T (p.Tyr2175Phe) c.257A>T (p.Tyr86Phe) c.119A>T (p.Tyr40Phe) c.6419A>T (p.Tyr2140Phe) | |
| X | g.154863133T>C | CA414907272 | F8 | c.6524A>G (p.Tyr2175Cys) c.257A>G (p.Tyr86Cys) c.119A>G (p.Tyr40Cys) c.6419A>G (p.Tyr2140Cys) | |
| X | g.154863133T>G | CA414907276 | F8 | c.6524A>C (p.Tyr2175Ser) c.257A>C (p.Tyr86Ser) c.119A>C (p.Tyr40Ser) c.6419A>C (p.Tyr2140Ser) | |
| X | g.154863134A>C | CA414907287 | F8 | c.6523T>G (p.Tyr2175Asp) c.256T>G (p.Tyr86Asp) c.118T>G (p.Tyr40Asp) c.6418T>G (p.Tyr2140Asp) | |
| X | g.154863134A>G | CA414907290 | F8 | c.6523T>C (p.Tyr2175His) c.256T>C (p.Tyr86His) c.118T>C (p.Tyr40His) c.6418T>C (p.Tyr2140His) | |
| X | g.154863134A>T | CA414907293 | F8 | c.6523T>A (p.Tyr2175Asn) c.256T>A (p.Tyr86Asn) c.118T>A (p.Tyr40Asn) c.6418T>A (p.Tyr2140Asn) | |
| X | g.154863135del | CA2695237167 | F8 | c.6523del (p.Tyr2175IlefsTer11) c.256del (p.Tyr86IlefsTer11) c.118del (p.Tyr40IlefsTer11) c.6418del (p.Tyr2140IlefsTer11) | |
| X | g.154863135A>C | CA414907300 | F8 | c.6522T>G (p.His2174Gln) c.255T>G (p.His85Gln) c.117T>G (p.His39Gln) c.6417T>G (p.His2139Gln) | |
| X | g.154863135A>G | CA519357872 | F8 | c.6522T>C (p.His2174=) c.255T>C (p.His85=) c.117T>C (p.His39=) c.6417T>C (p.His2139=) | |
| X | g.154863135A>T | CA414907304 | F8 | c.6522T>A (p.His2174Gln) c.255T>A (p.His85Gln) c.117T>A (p.His39Gln) c.6417T>A (p.His2139Gln) | |
| X | g.154863136T>A | CA414907312 | F8 | c.6521A>T (p.His2174Leu) c.254A>T (p.His85Leu) c.116A>T (p.His39Leu) c.6416A>T (p.His2139Leu) | |
| X | g.154863136T>C | CA414907313 | F8 | c.6521A>G (p.His2174Arg) c.254A>G (p.His85Arg) c.116A>G (p.His39Arg) c.6416A>G (p.His2139Arg) | COSMIC COSMIC |
| X | g.154863136T>G | CA414907315 | F8 | c.6521A>C (p.His2174Pro) c.254A>C (p.His85Pro) c.116A>C (p.His39Pro) c.6416A>C (p.His2139Pro) | |
| X | g.154863137G>A | CA414907326 | F8 | c.6520C>T (p.His2174Tyr) c.253C>T (p.His85Tyr) c.115C>T (p.His39Tyr) c.6415C>T (p.His2139Tyr) | |
| X | g.154863137G>C | CA414907323 | F8 | c.6520C>G (p.His2174Asp) c.253C>G (p.His85Asp) c.115C>G (p.His39Asp) c.6415C>G (p.His2139Asp) | |
| X | g.154863137G>T | CA414907318 | F8 | c.6520C>A (p.His2174Asn) c.253C>A (p.His85Asn) c.115C>A (p.His39Asn) c.6415C>A (p.His2139Asn) | |
| X | g.154863138A>C | CA519357876 | F8 | c.6519T>G (p.Thr2173=) c.252T>G (p.Thr84=) c.114T>G (p.Thr38=) c.6414T>G (p.Thr2138=) | |
| X | g.154863138A>G | CA519357877 | F8 | c.6519T>C (p.Thr2173=) c.252T>C (p.Thr84=) c.114T>C (p.Thr38=) c.6414T>C (p.Thr2138=) | COSMIC COSMIC |
| X | g.154863138A>T | CA519357878 | F8 | c.6519T>A (p.Thr2173=) c.252T>A (p.Thr84=) c.114T>A (p.Thr38=) c.6414T>A (p.Thr2138=) | |
| X | g.154863138_154863140dup | CA2695237168 | F8 | c.6517_6519dup (p.Thr2173_His2174insThr) c.250_252dup (p.Thr84_His85insThr) c.112_114dup (p.Thr38_His39insThr) c.6412_6414dup (p.Thr2138_His2139insThr) | |
| X | g.154863139G>A | CA255210 | F8 | c.6518C>T (p.Thr2173Ile) c.251C>T (p.Thr84Ile) c.113C>T (p.Thr38Ile) c.6413C>T (p.Thr2138Ile) | ClinVar dbSNP |
| X | g.154863139G>C | CA414907336 | F8 | c.6518C>G (p.Thr2173Ser) c.251C>G (p.Thr84Ser) c.113C>G (p.Thr38Ser) c.6413C>G (p.Thr2138Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863139G= | CA2466815638 | F8 | c.6518C= (p.Thr2173=) c.251C= (p.Thr84=) c.113C= (p.Thr38=) c.6413C= (p.Thr2138=) | |
| X | g.154863139G>T | CA414907339 | F8 | c.6518C>A (p.Thr2173Asn) c.251C>A (p.Thr84Asn) c.113C>A (p.Thr38Asn) c.6413C>A (p.Thr2138Asn) | dbSNP |
| X | g.154863139_154863141delinsGTT | CA2466815640 | F8 | c.6516_6518delinsAAC (p.Pro2172=) c.249_251delinsAAC (p.Pro83=) c.111_113delinsAAC (p.Pro37=) c.6411_6413delinsAAC (p.Pro2137=) | |
| X | g.154863140T>A | CA414907345 | F8 | c.6517A>T (p.Thr2173Ser) c.250A>T (p.Thr84Ser) c.112A>T (p.Thr38Ser) c.6412A>T (p.Thr2138Ser) | |
| X | g.154863140T>C | CA414907348 | F8 | c.6517A>G (p.Thr2173Ala) c.250A>G (p.Thr84Ala) c.112A>G (p.Thr38Ala) c.6412A>G (p.Thr2138Ala) | |
| X | g.154863140T>G | CA414907350 | F8 | c.6517A>C (p.Thr2173Pro) c.250A>C (p.Thr84Pro) c.112A>C (p.Thr38Pro) c.6412A>C (p.Thr2138Pro) | |
| X | g.154863140_154863141del | CA873369465 | F8 | c.6516_6517del (p.Thr2173SerfsTer3) c.249_250del (p.Thr84SerfsTer3) c.111_112del (p.Thr38SerfsTer3) c.6411_6412del (p.Thr2138SerfsTer3) | dbSNP |
| X | g.154863141T>A | CA519357880 | F8 | c.6516A>T (p.Pro2172=) c.249A>T (p.Pro83=) c.111A>T (p.Pro37=) c.6411A>T (p.Pro2137=) | |
| X | g.154863141T>C | CA519357881 | F8 | c.6516A>G (p.Pro2172=) c.249A>G (p.Pro83=) c.111A>G (p.Pro37=) c.6411A>G (p.Pro2137=) | |
| X | g.154863141T>G | CA519357882 | F8 | c.6516A>C (p.Pro2172=) c.249A>C (p.Pro83=) c.111A>C (p.Pro37=) c.6411A>C (p.Pro2137=) | |
| X | g.154863142G>A | CA414907354 | F8 | c.6515C>T (p.Pro2172Leu) c.248C>T (p.Pro83Leu) c.110C>T (p.Pro37Leu) c.6410C>T (p.Pro2137Leu) | |
| X | g.154863142G>C | CA414907359 | F8 | c.6515C>G (p.Pro2172Arg) c.248C>G (p.Pro83Arg) c.110C>G (p.Pro37Arg) c.6410C>G (p.Pro2137Arg) | |
| X | g.154863142G= | CA2466815645 | F8 | c.6515C= (p.Pro2172=) c.248C= (p.Pro83=) c.110C= (p.Pro37=) c.6410C= (p.Pro2137=) | |
| X | g.154863142G>T | CA255209 | F8 | c.6515C>A (p.Pro2172Gln) c.248C>A (p.Pro83Gln) c.110C>A (p.Pro37Gln) c.6410C>A (p.Pro2137Gln) | ClinVar dbSNP |
| X | g.154863143G>A | CA414907368 | F8 | c.6514C>T (p.Pro2172Ser) c.247C>T (p.Pro83Ser) c.109C>T (p.Pro37Ser) c.6409C>T (p.Pro2137Ser) | |
| X | g.154863143G>C | CA414907369 | F8 | c.6514C>G (p.Pro2172Ala) c.247C>G (p.Pro83Ala) c.109C>G (p.Pro37Ala) c.6409C>G (p.Pro2137Ala) | |
| X | g.154863143G>T | CA414907370 | F8 | c.6514C>A (p.Pro2172Thr) c.247C>A (p.Pro83Thr) c.109C>A (p.Pro37Thr) c.6409C>A (p.Pro2137Thr) | gnomAD v4 |