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.154837524G>A | CA2695167352 | F8 | c.*73C>T (n.*73C>T) | gnomAD v4 |
| X | g.154837524G>T | CA2579744049 | F8 | c.*73C>A (n.*73C>A) | gnomAD v4 |
| X | g.154837525C>A | CA2695167353 | F8 | c.*72G>T (n.*72G>T) | gnomAD v4 |
| X | g.154837525C>T | CA2695167354 | F8 | c.*72G>A (n.*72G>A) | gnomAD v4 |
| X | g.154837527A>G | CA2695167355 | F8 | c.*70T>C (n.*70T>C) | gnomAD v4 |
| X | g.154837528G>C | CA2695167356 | F8 | c.*69C>G (n.*69C>G) | gnomAD v4 |
| X | g.154837528G>T | CA2695167357 | F8 | c.*69C>A (n.*69C>A) | gnomAD v4 |
| X | g.154837529G>A | CA2695167359 | F8 | c.*68C>T (n.*68C>T) | gnomAD v4 |
| X | g.154837529G>C | CA2695167360 | F8 | c.*68C>G (n.*68C>G) | gnomAD v4 |
| X | g.154837530G>C | CA2695167361 | F8 | c.*67C>G (n.*67C>G) | gnomAD v4 |
| X | g.154837530G>T | CA2695167362 | F8 | c.*67C>A (n.*67C>A) | gnomAD v4 |
| X | g.154837531A>G | CA2695167363 | F8 | c.*66T>C (n.*66T>C) | gnomAD v4 |
| X | g.154837531A>T | CA2695167364 | F8 | c.*66T>A (n.*66T>A) | gnomAD v4 |
| X | g.154837532G>T | CA2579744050 | F8 | c.*65C>A (n.*65C>A) | gnomAD v4 |
| X | g.154837533G>T | CA2824312706 | F8 | c.*64C>A (n.*64C>A) | |
| X | g.154837534G>A | CA2579744051 | F8 | c.*63C>T (n.*63C>T) | gnomAD v4 |
| X | g.154837534G>T | CA2579744052 | F8 | c.*63C>A (n.*63C>A) | |
| X | g.154837536C>A | CA2695167365 | F8 | c.*61G>T (n.*61G>T) | gnomAD v4 |
| X | g.154837536C>T | CA2695167366 | F8 | c.*61G>A (n.*61G>A) | gnomAD v4 |
| X | g.154837537A>G | CA2695167367 | F8 | c.*60T>C (n.*60T>C) | gnomAD v4 |
| X | g.154837538C= | CA2466807383 | F8 | c.*59G= (n.*59G=) | |
| X | g.154837538C>G | CA2695167368 | F8 | c.*59G>C (n.*59G>C) | gnomAD v4 |
| X | g.154837538C>T | CA337319321 | F8 | c.*59G>A (n.*59G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837539T>A | CA2695167369 | F8 | c.*58A>T (n.*58A>T) | gnomAD v4 |
| X | g.154837539T>C | CA2506064871 | F8 | c.*58A>G (n.*58A>G) | |
| X | g.154837540G>A | CA873360713 | F8 | c.*57C>T (n.*57C>T) | dbSNP gnomAD v4 |
| X | g.154837540G= | CA2466807384 | F8 | c.*57C= (n.*57C=) | |
| X | g.154837540G>T | CA2695167370 | F8 | c.*57C>A (n.*57C>A) | gnomAD v4 |
| X | g.154837540_154837541delinsGC | CA2466807385 | F8 | c.*56_*57delinsGC (n.*56_*57delinsGC) | |
| X | g.154837541C>A | CA2466807386 | F8 | c.*56G>T (n.*56G>T) | ClinVar dbSNP |
| X | g.154837541C= | CA2466807387 | F8 | c.*56G= (n.*56G=) | |
| X | g.154837541C>T | CA2695167371 | F8 | c.*56G>A (n.*56G>A) | gnomAD v4 |
| X | g.154837543del | CA645237045 | F8 | c.*56del (n.*56del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837542C>A | CA2695167373 | F8 | c.*55G>T (n.*55G>T) | gnomAD v4 |
| X | g.154837542C>T | CA2695167372 | F8 | c.*55G>A (n.*55G>A) | gnomAD v4 |
| X | g.154837543C>A | CA2695167374 | F8 | c.*54G>T (n.*54G>T) | gnomAD v4 |
| X | g.154837543C>T | CA2695167375 | F8 | c.*54G>A (n.*54G>A) | gnomAD v4 |
| X | g.154837544T>C | CA2695167376 | F8 | c.*53A>G (n.*53A>G) | gnomAD v4 |
| X | g.154837544T>G | CA337319323 | F8 | c.*53A>C (n.*53A>C) | dbSNP |
| X | g.154837544T= | CA2466807388 | F8 | c.*53A= (n.*53A=) | |
| X | g.154837545G>T | CA2695167377 | F8 | c.*52C>A (n.*52C>A) | gnomAD v4 |
| X | g.154837546G>A | CA10567714 | F8 | c.*51C>T (n.*51C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837546G= | CA2466807389 | F8 | c.*51C= (n.*51C=) | |
| X | g.154837546G>T | CA2824312707 | F8 | c.*51C>A (n.*51C>A) | |
| X | g.154837548G>A | CA2695167378 | F8 | c.*49C>T (n.*49C>T) | gnomAD v4 |
| X | g.154837548G>C | CA645237046 | F8 | c.*49C>G (n.*49C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837548G= | CA2466807390 | F8 | c.*49C= (n.*49C=) | |
| X | g.154837548G>T | CA2695167379 | F8 | c.*49C>A (n.*49C>A) | gnomAD v4 |
| X | g.154837549C>A | CA2695167380 | F8 | c.*48G>T (n.*48G>T) | gnomAD v4 |
| X | g.154837549C>T | CA2695167381 | F8 | c.*48G>A (n.*48G>A) | gnomAD v4 |
| X | g.154837550T>C | CA2695167382 | F8 | c.*47A>G (n.*47A>G) | gnomAD v4 |
| X | g.154837551G>A | CA337319329 | F8 | c.*46C>T (n.*46C>T) | dbSNP gnomAD v4 |
| X | g.154837551G= | CA2466807391 | F8 | c.*46C= (n.*46C=) | |
| X | g.154837551G>T | CA2695167383 | F8 | c.*46C>A (n.*46C>A) | gnomAD v4 |
| X | g.154837553G>A | CA2695167385 | F8 | c.*44C>T (n.*44C>T) | gnomAD v4 |
| X | g.154837553G>T | CA2695167384 | F8 | c.*44C>A (n.*44C>A) | gnomAD v4 |
| X | g.154837554G>T | CA2824312708 | F8 | c.*43C>A (n.*43C>A) | |
| X | g.154837555A>G | CA2695167386 | F8 | c.*42T>C (n.*42T>C) | gnomAD v4 |
| X | g.154837556G>A | CA10567715 | F8 | c.*41C>T (n.*41C>T) | dbSNP ExAC gnomAD v2 |
| X | g.154837556G= | CA2466807392 | F8 | c.*41C= (n.*41C=) | |
| X | g.154837556G>T | CA2695167387 | F8 | c.*41C>A (n.*41C>A) | gnomAD v4 |
| X | g.154837558del | CA2579744053 | F8 | c.*41del (n.*41del) | gnomAD v4 |
| X | g.154837557G>T | CA2695167388 | F8 | c.*40C>A (n.*40C>A) | gnomAD v4 |
| X | g.154837558G>A | CA645237047 | F8 | c.*39C>T (n.*39C>T) | dbSNP gnomAD v2 |
| X | g.154837558G= | CA2466807393 | F8 | c.*39C= (n.*39C=) | |
| X | g.154837558G>T | CA2695167389 | F8 | c.*39C>A (n.*39C>A) | gnomAD v4 |
| X | g.154837561_154837562del | CA2579744054 | F8 | c.*38_*39del (n.*38_*39del) | |
| X | g.154837559A>G | CA2695167390 | F8 | c.*38T>C (n.*38T>C) | gnomAD v4 |
| X | g.154837560G>T | CA2695167391 | F8 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| X | g.154837561A= | CA2466807394 | F8 | c.*36T= (n.*36T=) | |
| X | g.154837561A>C | CA10567716 | F8 | c.*36T>G (n.*36T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837561A>G | CA2695167392 | F8 | c.*36T>C (n.*36T>C) | gnomAD v4 |
| X | g.154837564T>A | CA873360731 | F8 | c.*33A>T (n.*33A>T) | dbSNP |
| X | g.154837564T>C | CA873360732 | F8 | c.*33A>G (n.*33A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837564T= | CA2466807395 | F8 | c.*33A= (n.*33A=) | |
| X | g.154837565del | CA2824312709 | F8 | c.*32del (n.*32del) | |
| X | g.154837567C>A | CA2695167394 | F8 | c.*30G>T (n.*30G>T) | gnomAD v4 |
| X | g.154837567C= | CA2466807396 | F8 | c.*30G= (n.*30G=) | |
| X | g.154837567C>T | CA10567717 | F8 | c.*30G>A (n.*30G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837568_154837582dup | CA2695167393 | F8 | c.*16_*30dup (n.*16_*30dup) | gnomAD v4 |
| X | g.154837568G>A | CA10567718 | F8 | c.*29C>T (n.*29C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837568G= | CA2466807397 | F8 | c.*29C= (n.*29C=) | |
| X | g.154837568G>T | CA2695167395 | F8 | c.*29C>A (n.*29C>A) | gnomAD v4 |
| X | g.154837569G>A | CA2695167396 | F8 | c.*28C>T (n.*28C>T) | gnomAD v4 |
| X | g.154837569G>T | CA2695167397 | F8 | c.*28C>A (n.*28C>A) | gnomAD v4 |
| X | g.154837570C>A | CA645237048 | F8 | c.*27G>T (n.*27G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837570C= | CA2466807398 | F8 | c.*27G= (n.*27G=) | |
| X | g.154837570C>T | CA337319346 | F8 | c.*27G>A (n.*27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837571A>G | CA2695167398 | F8 | c.*26T>C (n.*26T>C) | gnomAD v4 |
| X | g.154837572G>C | CA2741807118 | F8 | c.*25C>G (n.*25C>G) | |
| X | g.154837572G>T | CA2695167399 | F8 | c.*25C>A (n.*25C>A) | gnomAD v4 |
| X | g.154837573T>C | CA645237049 | F8 | c.*24A>G (n.*24A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837573T= | CA2466807399 | F8 | c.*24A= (n.*24A=) | |
| X | g.154837574G>A | CA2695167400 | F8 | c.*23C>T (n.*23C>T) | gnomAD v4 |
| X | g.154837574G>T | CA2695167401 | F8 | c.*23C>A (n.*23C>A) | gnomAD v4 |
| X | g.154837575G>A | CA2579744055 | F8 | c.*22C>T (n.*22C>T) | |
| X | g.154837576C>A | CA2466807401 | F8 | c.*21G>T (n.*21G>T) | dbSNP gnomAD v4 |
| X | g.154837576C= | CA2466807400 | F8 | c.*21G= (n.*21G=) | |
| X | g.154837576C>T | CA10567719 | F8 | c.*21G>A (n.*21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837577A= | CA2466807402 | F8 | c.*20T= (n.*20T=) | |
| X | g.154837577A>G | CA645237050 | F8 | c.*20T>C (n.*20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837577A>T | CA2695167402 | F8 | c.*20T>A (n.*20T>A) | gnomAD v4 |
| X | g.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
| X | g.154837578G>A | CA645237051 | F8 | c.*19C>T (n.*19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837578G= | CA2466807403 | F8 | c.*19C= (n.*19C=) | |
| X | g.154837579G= | CA2466807404 | F8 | c.*18C= (n.*18C=) | |
| X | g.154837579G>T | CA2695167403 | F8 | c.*18C>A (n.*18C>A) | gnomAD v4 |
| X | g.154837579_154837586delinsGTGCTGCA | CA2466807405 | F8 | c.*11_*18delinsTGCAGCAC (n.*11_*18delinsTGCAGCAC) | |
| X | g.154837580T>C | CA2695167404 | F8 | c.*17A>G (n.*17A>G) | gnomAD v4 |
| X | g.154837580T>G | CA10567720 | F8 | c.*17A>C (n.*17A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837580T= | CA2466807406 | F8 | c.*17A= (n.*17A=) | |
| X | g.154837583_154837585dup | CA873360743 | F8 | c.*15_*17dup (n.*15_*17dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837580_154837586del | CA645237052 | F8 | c.*11_*17del (n.*11_*17del) | dbSNP gnomAD v2 |
| X | g.154837581G>T | CA2695167405 | F8 | c.*16C>A (n.*16C>A) | gnomAD v4 |
| X | g.154837582C= | CA2466807407 | F8 | c.*15G= (n.*15G=) | |
| X | g.154837582C>G | CA645237053 | F8 | c.*15G>C (n.*15G>C) | dbSNP gnomAD v2 |
| X | g.154837582C>T | CA2579744056 | F8 | c.*15G>A (n.*15G>A) | gnomAD v4 |
| X | g.154837583T>G | CA645237054 | F8 | c.*14A>C (n.*14A>C) | dbSNP gnomAD v2 |
| X | g.154837583T= | CA2466807408 | F8 | c.*14A= (n.*14A=) | |
| X | g.154837584G>A | CA645237055 | F8 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837584G= | CA2466807409 | F8 | c.*13C= (n.*13C=) | |
| X | g.154837584G>T | CA2824312710 | F8 | c.*13C>A (n.*13C>A) | |
| X | g.154837585dup | CA2695167406 | F8 | c.*12dup (n.*12dup) | gnomAD v4 |
| X | g.154837586A= | CA2466807410 | F8 | c.*11T= (n.*11T=) | |
| X | g.154837586A>C | CA645237056 | F8 | c.*11T>G (n.*11T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837588T>A | CA645237057 | F8 | c.*9A>T (n.*9A>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837588T>G | CA645237058 | F8 | c.*9A>C (n.*9A>C) | dbSNP gnomAD v2 |
| X | g.154837588T= | CA2466807411 | F8 | c.*9A= (n.*9A=) | |
| X | g.154837590G>A | CA2695167407 | F8 | c.*7C>T (n.*7C>T) | gnomAD v4 |
| X | g.154837591C= | CA2466807412 | F8 | c.*6G= (n.*6G=) | |
| X | g.154837591C>T | CA873360746 | F8 | c.*6G>A (n.*6G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837592C>A | CA2466807414 | F8 | c.*5G>T (n.*5G>T) | dbSNP |
| X | g.154837592C= | CA2466807413 | F8 | c.*5G= (n.*5G=) | |
| X | g.154837592C>T | CA645237059 | F8 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837594C>G | CA2695167408 | F8 | c.*3G>C (n.*3G>C) | gnomAD v4 |
| X | g.154837595C= | CA2466807415 | F8 | c.*2G= (n.*2G=) | |
| X | g.154837595C>G | CA519355152 | F8 | c.*2G>C (n.*2G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837596C>A | CA2695167409 | F8 | c.*1G>T (n.*1G>T) | gnomAD v4 |
| X | g.154837597T>A | CA414896481 | F8 | c.7056A>T (p.Ter2352Cys) c.789A>T (p.Ter263Cys) c.651A>T (p.Ter217Cys) c.6951A>T (p.Ter2317Cys) | |
| X | g.154837597T>C | CA414896496 | F8 | c.7056A>G (p.Ter2352Trp) c.789A>G (p.Ter263Trp) c.651A>G (p.Ter217Trp) c.6951A>G (p.Ter2317Trp) | |
| X | g.154837597T>G | CA414896501 | F8 | c.7056A>C (p.Ter2352Cys) c.789A>C (p.Ter263Cys) c.651A>C (p.Ter217Cys) c.6951A>C (p.Ter2317Cys) | |
| X | g.154837598C>A | CA414896505 | F8 | c.7055G>T (p.Ter2352Leu) c.788G>T (p.Ter263Leu) c.650G>T (p.Ter217Leu) c.6950G>T (p.Ter2317Leu) | |
| X | g.154837598C>G | CA414896509 | F8 | c.7055G>C (p.Ter2352Ser) c.788G>C (p.Ter263Ser) c.650G>C (p.Ter217Ser) c.6950G>C (p.Ter2317Ser) | |
| X | g.154837598C>T | CA519355156 | F8 | c.7055G>A (p.Ter2352=) c.788G>A (p.Ter263=) c.650G>A (p.Ter217=) c.6950G>A (p.Ter2317=) | |
| X | g.154837599del | CA2695237101 | F8 | c.7054del (p.Ter2352GluextTer?) c.787del (p.Ter263GluextTer?) c.649del (p.Ter217GluextTer?) c.6949del (p.Ter2317GluextTer?) | |
| X | g.154837599A= | CA2466807416 | F8 | c.7054T= (p.Ter2352=) c.787T= (p.Ter263=) c.649T= (p.Ter217=) c.6949T= (p.Ter2317=) | |
| X | g.154837599A>C | CA414896512 | F8 | c.7054T>G (p.Ter2352Gly) c.787T>G (p.Ter263Gly) c.649T>G (p.Ter217Gly) c.6949T>G (p.Ter2317Gly) | |
| X | g.154837599A>G | CA414896515 | F8 | c.7054T>C (p.Ter2352Arg) c.787T>C (p.Ter263Arg) c.649T>C (p.Ter217Arg) c.6949T>C (p.Ter2317Arg) | dbSNP |
| X | g.154837599A>T | CA414896519 | F8 | c.7054T>A (p.Ter2352Arg) c.787T>A (p.Ter263Arg) c.649T>A (p.Ter217Arg) c.6949T>A (p.Ter2317Arg) | |
| X | g.154837600G>A | CA519355157 | F8 | c.7053C>T (p.Tyr2351=) c.786C>T (p.Tyr262=) c.648C>T (p.Tyr216=) c.6948C>T (p.Tyr2316=) | |
| X | g.154837600G>C | CA414896520 | F8 | c.7053C>G (p.Tyr2351Ter) c.786C>G (p.Tyr262Ter) c.648C>G (p.Tyr216Ter) c.6948C>G (p.Tyr2316Ter) | |
| X | g.154837600G>T | CA414896521 | F8 | c.7053C>A (p.Tyr2351Ter) c.786C>A (p.Tyr262Ter) c.648C>A (p.Tyr216Ter) c.6948C>A (p.Tyr2316Ter) | |
| X | g.154837601T>A | CA414896542 | F8 | c.7052A>T (p.Tyr2351Phe) c.785A>T (p.Tyr262Phe) c.647A>T (p.Tyr216Phe) c.6947A>T (p.Tyr2316Phe) | |
| X | g.154837601T>C | CA414896538 | F8 | c.7052A>G (p.Tyr2351Cys) c.785A>G (p.Tyr262Cys) c.647A>G (p.Tyr216Cys) c.6947A>G (p.Tyr2316Cys) | |
| X | g.154837601T>G | CA414896522 | F8 | c.7052A>C (p.Tyr2351Ser) c.785A>C (p.Tyr262Ser) c.647A>C (p.Tyr216Ser) c.6947A>C (p.Tyr2316Ser) | |
| X | g.154837602A>C | CA414896543 | F8 | c.7051T>G (p.Tyr2351Asp) c.784T>G (p.Tyr262Asp) c.646T>G (p.Tyr216Asp) c.6946T>G (p.Tyr2316Asp) | |
| X | g.154837602A>G | CA414896545 | F8 | c.7051T>C (p.Tyr2351His) c.784T>C (p.Tyr262His) c.646T>C (p.Tyr216His) c.6946T>C (p.Tyr2316His) | |
| X | g.154837602A>T | CA414896547 | F8 | c.7051T>A (p.Tyr2351Asn) c.784T>A (p.Tyr262Asn) c.646T>A (p.Tyr216Asn) c.6946T>A (p.Tyr2316Asn) | |
| X | g.154837603G>A | CA519355160 | F8 | c.7050C>T (p.Leu2350=) c.783C>T (p.Leu261=) c.645C>T (p.Leu215=) c.6945C>T (p.Leu2315=) | COSMIC COSMIC |
| X | g.154837603G>C | CA519355161 | F8 | c.7050C>G (p.Leu2350=) c.783C>G (p.Leu261=) c.645C>G (p.Leu215=) c.6945C>G (p.Leu2315=) | |
| X | g.154837603G>T | CA519355162 | F8 | c.7050C>A (p.Leu2350=) c.783C>A (p.Leu261=) c.645C>A (p.Leu215=) c.6945C>A (p.Leu2315=) | |
| X | g.154837604A= | CA2466807417 | F8 | c.7049T= (p.Leu2350=) c.782T= (p.Leu261=) c.644T= (p.Leu215=) c.6944T= (p.Leu2315=) | |
| X | g.154837604A>C | CA414896548 | F8 | c.7049T>G (p.Leu2350Arg) c.782T>G (p.Leu261Arg) c.644T>G (p.Leu215Arg) c.6944T>G (p.Leu2315Arg) | dbSNP gnomAD v2 |
| X | g.154837604A>G | CA414896549 | F8 | c.7049T>C (p.Leu2350Pro) c.782T>C (p.Leu261Pro) c.644T>C (p.Leu215Pro) c.6944T>C (p.Leu2315Pro) | |
| X | g.154837604A>T | CA414896551 | F8 | c.7049T>A (p.Leu2350His) c.782T>A (p.Leu261His) c.644T>A (p.Leu215His) c.6944T>A (p.Leu2315His) | |
| X | g.154837605G>A | CA414896554 | F8 | c.7048C>T (p.Leu2350Phe) c.781C>T (p.Leu261Phe) c.643C>T (p.Leu215Phe) c.6943C>T (p.Leu2315Phe) | |
| X | g.154837605G>C | CA414896557 | F8 | c.7048C>G (p.Leu2350Val) c.781C>G (p.Leu261Val) c.643C>G (p.Leu215Val) c.6943C>G (p.Leu2315Val) | |
| X | g.154837605G>T | CA414896560 | F8 | c.7048C>A (p.Leu2350Ile) c.781C>A (p.Leu261Ile) c.643C>A (p.Leu215Ile) c.6943C>A (p.Leu2315Ile) | |
| X | g.154837606G>A | CA519355163 | F8 | c.7047C>T (p.Asp2349=) c.780C>T (p.Asp260=) c.642C>T (p.Asp214=) c.6942C>T (p.Asp2314=) | gnomAD v4 |
| X | g.154837606G>C | CA414896568 | F8 | c.7047C>G (p.Asp2349Glu) c.780C>G (p.Asp260Glu) c.642C>G (p.Asp214Glu) c.6942C>G (p.Asp2314Glu) | |
| X | g.154837606G>T | CA414896570 | F8 | c.7047C>A (p.Asp2349Glu) c.780C>A (p.Asp260Glu) c.642C>A (p.Asp214Glu) c.6942C>A (p.Asp2314Glu) | |
| X | g.154837607T>A | CA414896579 | F8 | c.7046A>T (p.Asp2349Val) c.779A>T (p.Asp260Val) c.641A>T (p.Asp214Val) c.6941A>T (p.Asp2314Val) | |
| X | g.154837607T>C | CA414896573 | F8 | c.7046A>G (p.Asp2349Gly) c.779A>G (p.Asp260Gly) c.641A>G (p.Asp214Gly) c.6941A>G (p.Asp2314Gly) | |
| X | g.154837607T>G | CA414896577 | F8 | c.7046A>C (p.Asp2349Ala) c.779A>C (p.Asp260Ala) c.641A>C (p.Asp214Ala) c.6941A>C (p.Asp2314Ala) | gnomAD v4 |
| X | g.154837608C>A | CA414896585 | F8 | c.7045G>T (p.Asp2349Tyr) c.778G>T (p.Asp260Tyr) c.640G>T (p.Asp214Tyr) c.6940G>T (p.Asp2314Tyr) | |
| X | g.154837608C>G | CA414896588 | F8 | c.7045G>C (p.Asp2349His) c.778G>C (p.Asp260His) c.640G>C (p.Asp214His) c.6940G>C (p.Asp2314His) | |
| X | g.154837608C>T | CA414896592 | F8 | c.7045G>A (p.Asp2349Asn) c.778G>A (p.Asp260Asn) c.640G>A (p.Asp214Asn) c.6940G>A (p.Asp2314Asn) | |
| X | g.154837609C>A | CA414896593 | F8 | c.7044G>T (p.Gln2348His) c.777G>T (p.Gln259His) c.639G>T (p.Gln213His) c.6939G>T (p.Gln2313His) | |
| X | g.154837609C>G | CA414896594 | F8 | c.7044G>C (p.Gln2348His) c.777G>C (p.Gln259His) c.639G>C (p.Gln213His) c.6939G>C (p.Gln2313His) | |
| X | g.154837609C>T | CA519355168 | F8 | c.7044G>A (p.Gln2348=) c.777G>A (p.Gln259=) c.639G>A (p.Gln213=) c.6939G>A (p.Gln2313=) | |
| X | g.154837610T>A | CA414896596 | F8 | c.7043A>T (p.Gln2348Leu) c.776A>T (p.Gln259Leu) c.638A>T (p.Gln213Leu) c.6938A>T (p.Gln2313Leu) | |
| X | g.154837610T>C | CA414896599 | F8 | c.7043A>G (p.Gln2348Arg) c.776A>G (p.Gln259Arg) c.638A>G (p.Gln213Arg) c.6938A>G (p.Gln2313Arg) | |
| X | g.154837610T>G | CA414896602 | F8 | c.7043A>C (p.Gln2348Pro) c.776A>C (p.Gln259Pro) c.638A>C (p.Gln213Pro) c.6938A>C (p.Gln2313Pro) | |
| X | g.154837611G>A | CA414896606 | F8 | c.7042C>T (p.Gln2348Ter) c.775C>T (p.Gln259Ter) c.637C>T (p.Gln213Ter) c.6937C>T (p.Gln2313Ter) | |
| X | g.154837611G>C | CA414896610 | F8 | c.7042C>G (p.Gln2348Glu) c.775C>G (p.Gln259Glu) c.637C>G (p.Gln213Glu) c.6937C>G (p.Gln2313Glu) | |
| X | g.154837611G>T | CA414896613 | F8 | c.7042C>A (p.Gln2348Lys) c.775C>A (p.Gln259Lys) c.637C>A (p.Gln213Lys) c.6937C>A (p.Gln2313Lys) | |
| X | g.154837612T>A | CA519355169 | F8 | c.7041A>T (p.Ala2347=) c.774A>T (p.Ala258=) c.636A>T (p.Ala212=) c.6936A>T (p.Ala2312=) | |
| X | g.154837612T>C | CA519355171 | F8 | c.7041A>G (p.Ala2347=) c.774A>G (p.Ala258=) c.636A>G (p.Ala212=) c.6936A>G (p.Ala2312=) | |
| X | g.154837612T>G | CA519355170 | F8 | c.7041A>C (p.Ala2347=) c.774A>C (p.Ala258=) c.636A>C (p.Ala212=) c.6936A>C (p.Ala2312=) | |
| X | g.154837613G>A | CA414896616 | F8 | c.7040C>T (p.Ala2347Val) c.773C>T (p.Ala258Val) c.635C>T (p.Ala212Val) c.6935C>T (p.Ala2312Val) | |
| X | g.154837613G>C | CA414896617 | F8 | c.7040C>G (p.Ala2347Gly) c.773C>G (p.Ala258Gly) c.635C>G (p.Ala212Gly) c.6935C>G (p.Ala2312Gly) | |
| X | g.154837613G>T | CA414896614 | F8 | c.7040C>A (p.Ala2347Glu) c.773C>A (p.Ala258Glu) c.635C>A (p.Ala212Glu) c.6935C>A (p.Ala2312Glu) | |
| X | g.154837614C>A | CA414896621 | F8 | c.7039G>T (p.Ala2347Ser) c.772G>T (p.Ala258Ser) c.634G>T (p.Ala212Ser) c.6934G>T (p.Ala2312Ser) | |
| X | g.154837614C>G | CA414896620 | F8 | c.7039G>C (p.Ala2347Pro) c.772G>C (p.Ala258Pro) c.634G>C (p.Ala212Pro) c.6934G>C (p.Ala2312Pro) | |
| X | g.154837614C>T | CA414896622 | F8 | c.7039G>A (p.Ala2347Thr) c.772G>A (p.Ala258Thr) c.634G>A (p.Ala212Thr) c.6934G>A (p.Ala2312Thr) | |
| X | g.154837615C>A | CA414896624 | F8 | c.7038G>T (p.Glu2346Asp) c.771G>T (p.Glu257Asp) c.633G>T (p.Glu211Asp) c.6933G>T (p.Glu2311Asp) | |
| X | g.154837615C>G | CA414896627 | F8 | c.7038G>C (p.Glu2346Asp) c.771G>C (p.Glu257Asp) c.633G>C (p.Glu211Asp) c.6933G>C (p.Glu2311Asp) | gnomAD v4 |
| X | g.154837615C>T | CA519355173 | F8 | c.7038G>A (p.Glu2346=) c.771G>A (p.Glu257=) c.633G>A (p.Glu211=) c.6933G>A (p.Glu2311=) | |
| X | g.154837616T>A | CA414896630 | F8 | c.7037A>T (p.Glu2346Val) c.770A>T (p.Glu257Val) c.632A>T (p.Glu211Val) c.6932A>T (p.Glu2311Val) | |
| X | g.154837616T>C | CA414896633 | F8 | c.7037A>G (p.Glu2346Gly) c.770A>G (p.Glu257Gly) c.632A>G (p.Glu211Gly) c.6932A>G (p.Glu2311Gly) | |
| X | g.154837616T>G | CA414896636 | F8 | c.7037A>C (p.Glu2346Ala) c.770A>C (p.Glu257Ala) c.632A>C (p.Glu211Ala) c.6932A>C (p.Glu2311Ala) | |
| X | g.154837617C>A | CA414896639 | F8 | c.7036G>T (p.Glu2346Ter) c.769G>T (p.Glu257Ter) c.631G>T (p.Glu211Ter) c.6931G>T (p.Glu2311Ter) | |
| X | g.154837617C= | CA2466807418 | F8 | c.7036G= (p.Glu2346=) c.769G= (p.Glu257=) c.631G= (p.Glu211=) c.6931G= (p.Glu2311=) | |
| X | g.154837617C>G | CA414896642 | F8 | c.7036G>C (p.Glu2346Gln) c.769G>C (p.Glu257Gln) c.631G>C (p.Glu211Gln) c.6931G>C (p.Glu2311Gln) | dbSNP |
| X | g.154837617C>T | CA10567721 | F8 | c.7036G>A (p.Glu2346Lys) c.769G>A (p.Glu257Lys) c.631G>A (p.Glu211Lys) c.6931G>A (p.Glu2311Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837618G>A | CA519355177 | F8 | c.7035C>T (p.Cys2345=) c.768C>T (p.Cys256=) c.630C>T (p.Cys210=) c.6930C>T (p.Cys2310=) | dbSNP gnomAD v4 |
| X | g.154837618G>C | CA414896651 | F8 | c.7035C>G (p.Cys2345Trp) c.768C>G (p.Cys256Trp) c.630C>G (p.Cys210Trp) c.6930C>G (p.Cys2310Trp) | |
| X | g.154837618G= | CA2466807419 | F8 | c.7035C= (p.Cys2345=) c.768C= (p.Cys256=) c.630C= (p.Cys210=) c.6930C= (p.Cys2310=) | |
| X | g.154837618G>T | CA414896654 | F8 | c.7035C>A (p.Cys2345Ter) c.768C>A (p.Cys256Ter) c.630C>A (p.Cys210Ter) c.6930C>A (p.Cys2310Ter) | |
| X | g.154837619C>A | CA414896663 | F8 | c.7034G>T (p.Cys2345Phe) c.767G>T (p.Cys256Phe) c.629G>T (p.Cys210Phe) c.6929G>T (p.Cys2310Phe) | |
| X | g.154837619C>G | CA414896659 | F8 | c.7034G>C (p.Cys2345Ser) c.767G>C (p.Cys256Ser) c.629G>C (p.Cys210Ser) c.6929G>C (p.Cys2310Ser) | |
| X | g.154837619C>T | CA414896656 | F8 | c.7034G>A (p.Cys2345Tyr) c.767G>A (p.Cys256Tyr) c.629G>A (p.Cys210Tyr) c.6929G>A (p.Cys2310Tyr) | |
| X | g.154837620A= | CA2466807420 | F8 | c.7033T= (p.Cys2345=) c.766T= (p.Cys256=) c.628T= (p.Cys210=) c.6928T= (p.Cys2310=) | |
| X | g.154837620A>C | CA414896668 | F8 | c.7033T>G (p.Cys2345Gly) c.766T>G (p.Cys256Gly) c.628T>G (p.Cys210Gly) c.6928T>G (p.Cys2310Gly) | |
| X | g.154837620A>G | CA414896673 | F8 | c.7033T>C (p.Cys2345Arg) c.766T>C (p.Cys256Arg) c.628T>C (p.Cys210Arg) c.6928T>C (p.Cys2310Arg) | dbSNP |
| X | g.154837620A>T | CA414896680 | F8 | c.7033T>A (p.Cys2345Ser) c.766T>A (p.Cys256Ser) c.628T>A (p.Cys210Ser) c.6928T>A (p.Cys2310Ser) | |
| X | g.154837621G>A | CA519355179 | F8 | c.7032C>T (p.Gly2344=) c.765C>T (p.Gly255=) c.627C>T (p.Gly209=) c.6927C>T (p.Gly2309=) | |
| X | g.154837621G>C | CA519355180 | F8 | c.7032C>G (p.Gly2344=) c.765C>G (p.Gly255=) c.627C>G (p.Gly209=) c.6927C>G (p.Gly2309=) | |
| X | g.154837621G>T | CA519355178 | F8 | c.7032C>A (p.Gly2344=) c.765C>A (p.Gly255=) c.627C>A (p.Gly209=) c.6927C>A (p.Gly2309=) | |
| X | g.154837622C>A | CA414896682 | F8 | c.7031G>T (p.Gly2344Val) c.764G>T (p.Gly255Val) c.626G>T (p.Gly209Val) c.6926G>T (p.Gly2309Val) | |
| X | g.154837622C= | CA2466807421 | F8 | c.7031G= (p.Gly2344=) c.764G= (p.Gly255=) c.626G= (p.Gly209=) c.6926G= (p.Gly2309=) | |
| X | g.154837622C>G | CA414896685 | F8 | c.7031G>C (p.Gly2344Ala) c.764G>C (p.Gly255Ala) c.626G>C (p.Gly209Ala) c.6926G>C (p.Gly2309Ala) | |
| X | g.154837622C>T | CA414896689 | F8 | c.7031G>A (p.Gly2344Asp) c.764G>A (p.Gly255Asp) c.626G>A (p.Gly209Asp) c.6926G>A (p.Gly2309Asp) | ClinVar dbSNP |
| X | g.154837624del | CA2695237102 | F8 | c.7031del (p.Gly2344AlafsTer?) c.764del (p.Gly255AlafsTer?) c.626del (p.Gly209AlafsTer?) c.6926del (p.Gly2309AlafsTer?) | |
| X | g.154837623C>A | CA414896697 | F8 | c.7030G>T (p.Gly2344Cys) c.763G>T (p.Gly255Cys) c.625G>T (p.Gly209Cys) c.6925G>T (p.Gly2309Cys) | |
| X | g.154837623C= | CA2466807422 | F8 | c.7030G= (p.Gly2344=) c.763G= (p.Gly255=) c.625G= (p.Gly209=) c.6925G= (p.Gly2309=) | |
| X | g.154837623C>G | CA414896700 | F8 | c.7030G>C (p.Gly2344Arg) c.763G>C (p.Gly255Arg) c.625G>C (p.Gly209Arg) c.6925G>C (p.Gly2309Arg) | dbSNP |
| X | g.154837623C>T | CA414896705 | F8 | c.7030G>A (p.Gly2344Ser) c.763G>A (p.Gly255Ser) c.625G>A (p.Gly209Ser) c.6925G>A (p.Gly2309Ser) | |
| X | g.154837624C>A | CA519355185 | F8 | c.7029G>T (p.Leu2343=) c.762G>T (p.Leu254=) c.624G>T (p.Leu208=) c.6924G>T (p.Leu2308=) | gnomAD v4 |
| X | g.154837624C>G | CA519355186 | F8 | c.7029G>C (p.Leu2343=) c.762G>C (p.Leu254=) c.624G>C (p.Leu208=) c.6924G>C (p.Leu2308=) | |
| X | g.154837624C>T | CA519355187 | F8 | c.7029G>A (p.Leu2343=) c.762G>A (p.Leu254=) c.624G>A (p.Leu208=) c.6924G>A (p.Leu2308=) |