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.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 |
| X | g.154863144G>A | CA519357885 | F8 | c.6513C>T (p.His2171=) c.246C>T (p.His82=) c.108C>T (p.His36=) c.6408C>T (p.His2136=) | |
| X | g.154863144G>C | CA414907372 | F8 | c.6513C>G (p.His2171Gln) c.246C>G (p.His82Gln) c.108C>G (p.His36Gln) c.6408C>G (p.His2136Gln) | |
| X | g.154863144G>T | CA414907382 | F8 | c.6513C>A (p.His2171Gln) c.246C>A (p.His82Gln) c.108C>A (p.His36Gln) c.6408C>A (p.His2136Gln) | |
| X | g.154863145T>A | CA414907391 | F8 | c.6512A>T (p.His2171Leu) c.245A>T (p.His82Leu) c.107A>T (p.His36Leu) c.6407A>T (p.His2136Leu) | |
| X | g.154863145T>C | CA414907392 | F8 | c.6512A>G (p.His2171Arg) c.245A>G (p.His82Arg) c.107A>G (p.His36Arg) c.6407A>G (p.His2136Arg) | |
| X | g.154863145T>G | CA414907393 | F8 | c.6512A>C (p.His2171Pro) c.245A>C (p.His82Pro) c.107A>C (p.His36Pro) c.6407A>C (p.His2136Pro) | |
| X | g.154863146G>A | CA414907396 | F8 | c.6511C>T (p.His2171Tyr) c.244C>T (p.His82Tyr) c.106C>T (p.His36Tyr) c.6406C>T (p.His2136Tyr) | dbSNP |
| X | g.154863146G>C | CA414907410 | F8 | c.6511C>G (p.His2171Asp) c.244C>G (p.His82Asp) c.106C>G (p.His36Asp) c.6406C>G (p.His2136Asp) | |
| X | g.154863146G= | CA2466815648 | F8 | c.6511C= (p.His2171=) c.244C= (p.His82=) c.106C= (p.His36=) c.6406C= (p.His2136=) | |
| X | g.154863146G>T | CA414907413 | F8 | c.6511C>A (p.His2171Asn) c.244C>A (p.His82Asn) c.106C>A (p.His36Asn) c.6406C>A (p.His2136Asn) | |
| X | g.154863147C>A | CA414907421 | F8 | c.6510G>T (p.Leu2170Phe) c.243G>T (p.Leu81Phe) c.105G>T (p.Leu35Phe) c.6405G>T (p.Leu2135Phe) | |
| X | g.154863147C>G | CA414907423 | F8 | c.6510G>C (p.Leu2170Phe) c.243G>C (p.Leu81Phe) c.105G>C (p.Leu35Phe) c.6405G>C (p.Leu2135Phe) | |
| X | g.154863147C>T | CA519357888 | F8 | c.6510G>A (p.Leu2170=) c.243G>A (p.Leu81=) c.105G>A (p.Leu35=) c.6405G>A (p.Leu2135=) | COSMIC COSMIC |
| X | g.154863148A>C | CA414907428 | F8 | c.6509T>G (p.Leu2170Trp) c.242T>G (p.Leu81Trp) c.104T>G (p.Leu35Trp) c.6404T>G (p.Leu2135Trp) | |
| X | g.154863148A>G | CA414907432 | F8 | c.6509T>C (p.Leu2170Ser) c.242T>C (p.Leu81Ser) c.104T>C (p.Leu35Ser) c.6404T>C (p.Leu2135Ser) | |
| X | g.154863148A>T | CA414907444 | F8 | c.6509T>A (p.Leu2170Ter) c.242T>A (p.Leu81Ter) c.104T>A (p.Leu35Ter) c.6404T>A (p.Leu2135Ter) | |
| X | g.154863150del | CA2695237169 | F8 | c.6509del (p.Leu2170CysfsTer16) c.242del (p.Leu81CysfsTer16) c.104del (p.Leu35CysfsTer16) c.6404del (p.Leu2135CysfsTer16) | |
| X | g.154863149A>C | CA414907448 | F8 | c.6508T>G (p.Leu2170Val) c.241T>G (p.Leu81Val) c.103T>G (p.Leu35Val) c.6403T>G (p.Leu2135Val) | |
| X | g.154863149A>G | CA519357890 | F8 | c.6508T>C (p.Leu2170=) c.241T>C (p.Leu81=) c.103T>C (p.Leu35=) c.6403T>C (p.Leu2135=) | |
| X | g.154863149A>T | CA414907454 | F8 | c.6508T>A (p.Leu2170Met) c.241T>A (p.Leu81Met) c.103T>A (p.Leu35Met) c.6403T>A (p.Leu2135Met) | |
| X | g.154863150A>C | CA519357894 | F8 | c.6507T>G (p.Arg2169=) c.240T>G (p.Arg80=) c.102T>G (p.Arg34=) c.6402T>G (p.Arg2134=) | gnomAD v4 |
| X | g.154863150A>G | CA519357893 | F8 | c.6507T>C (p.Arg2169=) c.240T>C (p.Arg80=) c.102T>C (p.Arg34=) c.6402T>C (p.Arg2134=) | |
| X | g.154863150A>T | CA519357892 | F8 | c.6507T>A (p.Arg2169=) c.240T>A (p.Arg80=) c.102T>A (p.Arg34=) c.6402T>A (p.Arg2134=) | |
| X | g.154863151C>A | CA414907460 | F8 | c.6506G>T (p.Arg2169Leu) c.239G>T (p.Arg80Leu) c.101G>T (p.Arg34Leu) c.6401G>T (p.Arg2134Leu) | dbSNP |
| X | g.154863151C= | CA2466815650 | F8 | c.6506G= (p.Arg2169=) c.239G= (p.Arg80=) c.101G= (p.Arg34=) c.6401G= (p.Arg2134=) | |
| X | g.154863151C>G | CA414907465 | F8 | c.6506G>C (p.Arg2169Pro) c.239G>C (p.Arg80Pro) c.101G>C (p.Arg34Pro) c.6401G>C (p.Arg2134Pro) | |
| X | g.154863151C>T | CA255208 | F8 | c.6506G>A (p.Arg2169His) c.239G>A (p.Arg80His) c.101G>A (p.Arg34His) c.6401G>A (p.Arg2134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>A | CA10567800 | F8 | c.6505C>T (p.Arg2169Cys) c.238C>T (p.Arg80Cys) c.100C>T (p.Arg34Cys) c.6400C>T (p.Arg2134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>C | CA414907471 | F8 | c.6505C>G (p.Arg2169Gly) c.238C>G (p.Arg80Gly) c.100C>G (p.Arg34Gly) c.6400C>G (p.Arg2134Gly) | |
| X | g.154863152G= | CA2466815651 | F8 | c.6505C= (p.Arg2169=) c.238C= (p.Arg80=) c.100C= (p.Arg34=) c.6400C= (p.Arg2134=) |