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.154992944C>A | CA414919382 | F8 | c.593G>T (p.Cys198Phe) c.*379G>T (n.*379G>T) c.488G>T (p.Cys163Phe) | |
| X | g.154992944C= | CA2466856494 | F8 | c.593G= (p.Cys198=) c.*379G= (n.*379G=) c.488G= (p.Cys163=) | |
| X | g.154992944C>G | CA414919383 | F8 | c.593G>C (p.Cys198Ser) c.*379G>C (n.*379G>C) c.488G>C (p.Cys163Ser) | |
| X | g.154992944C>T | CA414919384 | F8 | c.593G>A (p.Cys198Tyr) c.*379G>A (n.*379G>A) c.488G>A (p.Cys163Tyr) | dbSNP |
| X | g.154992945A= | CA2466856495 | F8 | c.592T= (p.Cys198=) c.*378T= (n.*378T=) c.487T= (p.Cys163=) | |
| X | g.154992945A>C | CA255227 | F8 | c.592T>G (p.Cys198Gly) c.*378T>G (n.*378T>G) c.487T>G (p.Cys163Gly) | ClinVar dbSNP |
| X | g.154992945A>G | CA414919385 | F8 | c.592T>C (p.Cys198Arg) c.*378T>C (n.*378T>C) c.487T>C (p.Cys163Arg) | |
| X | g.154992945A>T | CA414919386 | F8 | c.592T>A (p.Cys198Ser) c.*378T>A (n.*378T>A) c.487T>A (p.Cys163Ser) | |
| X | g.154992946T>A | CA519371863 | F8 | c.591A>T (p.Val197=) c.*377A>T (n.*377A>T) c.486A>T (p.Val162=) | |
| X | g.154992946T>C | CA519371869 | F8 | c.591A>G (p.Val197=) c.*377A>G (n.*377A>G) c.486A>G (p.Val162=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154992946T>G | CA519371872 | F8 | c.591A>C (p.Val197=) c.*377A>C (n.*377A>C) c.486A>C (p.Val162=) | |
| X | g.154992946T= | CA2466856496 | F8 | c.591A= (p.Val197=) c.*377A= (n.*377A=) c.486A= (p.Val162=) | |
| X | g.154992948_154992950del | CA2695238445 | F8 | c.589_591del (p.Val197del) c.*375_*377del (n.*375_*377del) c.484_486del (p.Val162del) | |
| X | g.154992947A= | CA2466856497 | F8 | c.590T= (p.Val197=) c.*376T= (n.*376T=) c.485T= (p.Val162=) | |
| X | g.154992947A>C | CA414919387 | F8 | c.590T>G (p.Val197Gly) c.*376T>G (n.*376T>G) c.485T>G (p.Val162Gly) | |
| X | g.154992947A>G | CA414919388 | F8 | c.590T>C (p.Val197Ala) c.*376T>C (n.*376T>C) c.485T>C (p.Val162Ala) | dbSNP |
| X | g.154992947A>T | CA414919389 | F8 | c.590T>A (p.Val197Glu) c.*376T>A (n.*376T>A) c.485T>A (p.Val162Glu) | |
| X | g.154992948C>A | CA414919392 | F8 | c.589G>T (p.Val197Leu) c.*375G>T (n.*375G>T) c.484G>T (p.Val162Leu) | |
| X | g.154992948C= | CA2466856498 | F8 | c.589G= (p.Val197=) c.*375G= (n.*375G=) c.484G= (p.Val162=) | |
| X | g.154992948C>G | CA414919391 | F8 | c.589G>C (p.Val197Leu) c.*375G>C (n.*375G>C) c.484G>C (p.Val162Leu) | dbSNP |
| X | g.154992948C>T | CA414919390 | F8 | c.589G>A (p.Val197Ile) c.*375G>A (n.*375G>A) c.484G>A (p.Val162Ile) | |
| X | g.154992949T>A | CA519371906 | F8 | c.588A>T (p.Leu196=) c.*374A>T (n.*374A>T) c.483A>T (p.Leu161=) | |
| X | g.154992949T>C | CA519371913 | F8 | c.588A>G (p.Leu196=) c.*374A>G (n.*374A>G) c.483A>G (p.Leu161=) | gnomAD v4 |
| X | g.154992949T>G | CA519371919 | F8 | c.588A>C (p.Leu196=) c.*374A>C (n.*374A>C) c.483A>C (p.Leu161=) | |
| X | g.154992950A>C | CA414919393 | F8 | c.587T>G (p.Leu196Arg) c.*373T>G (n.*373T>G) c.482T>G (p.Leu161Arg) | |
| X | g.154992950A>G | CA414919394 | F8 | c.587T>C (p.Leu196Pro) c.*373T>C (n.*373T>C) c.482T>C (p.Leu161Pro) | |
| X | g.154992950A>T | CA414919395 | F8 | c.587T>A (p.Leu196Gln) c.*373T>A (n.*373T>A) c.482T>A (p.Leu161Gln) | |
| X | g.154992951G>A | CA519371925 | F8 | c.586C>T (p.Leu196=) c.*372C>T (n.*372C>T) c.481C>T (p.Leu161=) | gnomAD v4 |
| X | g.154992951G>C | CA414919396 | F8 | c.586C>G (p.Leu196Val) c.*372C>G (n.*372C>G) c.481C>G (p.Leu161Val) | |
| X | g.154992951G>T | CA414919397 | F8 | c.586C>A (p.Leu196Ile) c.*372C>A (n.*372C>A) c.481C>A (p.Leu161Ile) | gnomAD v4 |
| X | g.154992952T>A | CA519371936 | F8 | c.585A>T (p.Leu195=) c.*371A>T (n.*371A>T) c.480A>T (p.Leu160=) | |
| X | g.154992952T>C | CA519371934 | F8 | c.585A>G (p.Leu195=) c.*371A>G (n.*371A>G) c.480A>G (p.Leu160=) | |
| X | g.154992952T>G | CA519371930 | F8 | c.585A>C (p.Leu195=) c.*371A>C (n.*371A>C) c.480A>C (p.Leu160=) | |
| X | g.154992952_154992953dup | CA2695238446 | F8 | c.584_585dup (p.Leu196TyrfsTer2) c.*370_*371dup (n.*370_*371dup) c.479_480dup (p.Leu161TyrfsTer2) | |
| X | g.154992953A>C | CA414919398 | F8 | c.584T>G (p.Leu195Arg) c.*370T>G (n.*370T>G) c.479T>G (p.Leu160Arg) | |
| X | g.154992953A>G | CA414919399 | F8 | c.584T>C (p.Leu195Pro) c.*370T>C (n.*370T>C) c.479T>C (p.Leu160Pro) | |
| X | g.154992953A>T | CA414919400 | F8 | c.584T>A (p.Leu195Gln) c.*370T>A (n.*370T>A) c.479T>A (p.Leu160Gln) | |
| X | g.154992954G>A | CA519371947 | F8 | c.583C>T (p.Leu195=) c.*369C>T (n.*369C>T) c.478C>T (p.Leu160=) | |
| X | g.154992954G>C | CA414919401 | F8 | c.583C>G (p.Leu195Val) c.*369C>G (n.*369C>G) c.478C>G (p.Leu160Val) | |
| X | g.154992954G>T | CA414919402 | F8 | c.583C>A (p.Leu195Ile) c.*369C>A (n.*369C>A) c.478C>A (p.Leu160Ile) | |
| X | g.154992955G>A | CA337346488 | F8 | c.582C>T (p.Ala194=) c.*368C>T (n.*368C>T) c.477C>T (p.Ala159=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154992955G>C | CA519371962 | F8 | c.582C>G (p.Ala194=) c.*368C>G (n.*368C>G) c.477C>G (p.Ala159=) | |
| X | g.154992955G= | CA2466856499 | F8 | c.582C= (p.Ala194=) c.*368C= (n.*368C=) c.477C= (p.Ala159=) | |
| X | g.154992955G>T | CA519371965 | F8 | c.582C>A (p.Ala194=) c.*368C>A (n.*368C>A) c.477C>A (p.Ala159=) | gnomAD v4 |
| X | g.154992955_154992958dup | CA2695238447 | F8 | c.579_582dup (p.Leu195SerfsTer6) c.*365_*368dup (n.*365_*368dup) c.474_477dup (p.Leu160SerfsTer6) | |
| X | g.154992956G>A | CA414919405 | F8 | c.581C>T (p.Ala194Val) c.*367C>T (n.*367C>T) c.476C>T (p.Ala159Val) | dbSNP |
| X | g.154992956G>C | CA414919404 | F8 | c.581C>G (p.Ala194Gly) c.*367C>G (n.*367C>G) c.476C>G (p.Ala159Gly) | |
| X | g.154992956G= | CA2466856500 | F8 | c.581C= (p.Ala194=) c.*367C= (n.*367C=) c.476C= (p.Ala159=) | |
| X | g.154992956G>T | CA414919403 | F8 | c.581C>A (p.Ala194Asp) c.*367C>A (n.*367C>A) c.476C>A (p.Ala159Asp) | |
| X | g.154992957C>A | CA414919406 | F8 | c.580G>T (p.Ala194Ser) c.*366G>T (n.*366G>T) c.475G>T (p.Ala159Ser) | |
| X | g.154992957C>G | CA414919407 | F8 | c.580G>C (p.Ala194Pro) c.*366G>C (n.*366G>C) c.475G>C (p.Ala159Pro) | ClinVar |
| X | g.154992957C>T | CA414919408 | F8 | c.580G>A (p.Ala194Thr) c.*366G>A (n.*366G>A) c.475G>A (p.Ala159Thr) | |
| X | g.154992958T>A | CA519371984 | F8 | c.579A>T (p.Gly193=) c.*365A>T (n.*365A>T) c.474A>T (p.Gly158=) | |
| X | g.154992958T>C | CA519371986 | F8 | c.579A>G (p.Gly193=) c.*365A>G (n.*365A>G) c.474A>G (p.Gly158=) | |
| X | g.154992958T>G | CA519371990 | F8 | c.579A>C (p.Gly193=) c.*365A>C (n.*365A>C) c.474A>C (p.Gly158=) | |
| X | g.154992958_154992967delinsTCCAATGAGG | CA2466856501 | F8 | c.570_579delinsCCTCATTGGA (p.Gly190=) c.*356_*365delinsCCTCATTGGA (n.*356_*365delinsCCTCATTGGA) c.465_474delinsCCTCATTGGA (p.Gly155=) | |
| X | g.154992959C>A | CA414919409 | F8 | c.578G>T (p.Gly193Val) c.*364G>T (n.*364G>T) c.473G>T (p.Gly158Val) | |
| X | g.154992959C>G | CA414919410 | F8 | c.578G>C (p.Gly193Ala) c.*364G>C (n.*364G>C) c.473G>C (p.Gly158Ala) | |
| X | g.154992959C>T | CA414919411 | F8 | c.578G>A (p.Gly193Glu) c.*364G>A (n.*364G>A) c.473G>A (p.Gly158Glu) | COSMIC COSMIC |
| X | g.154992961_154992969del | CA873355857 | F8 | c.570_578del (p.Leu191_Gly193del) c.*356_*364del (n.*356_*364del) c.465_473del (p.Leu156_Gly158del) | dbSNP |
| X | g.154992960C>A | CA414919412 | F8 | c.577G>T (p.Gly193Ter) c.*363G>T (n.*363G>T) c.472G>T (p.Gly158Ter) | |
| X | g.154992960C>G | CA414919413 | F8 | c.577G>C (p.Gly193Arg) c.*363G>C (n.*363G>C) c.472G>C (p.Gly158Arg) | |
| X | g.154992960C>T | CA414919414 | F8 | c.577G>A (p.Gly193Arg) c.*363G>A (n.*363G>A) c.472G>A (p.Gly158Arg) | |
| X | g.154992961A>C | CA414919415 | F8 | c.576T>G (p.Ile192Met) c.*362T>G (n.*362T>G) c.471T>G (p.Ile157Met) | |
| X | g.154992961A>G | CA519372013 | F8 | c.576T>C (p.Ile192=) c.*362T>C (n.*362T>C) c.471T>C (p.Ile157=) | |
| X | g.154992961A>T | CA519372015 | F8 | c.576T>A (p.Ile192=) c.*362T>A (n.*362T>A) c.471T>A (p.Ile157=) | |
| X | g.154992962A= | CA2466856502 | F8 | c.575T= (p.Ile192=) c.*361T= (n.*361T=) c.470T= (p.Ile157=) | |
| X | g.154992962A>C | CA414919416 | F8 | c.575T>G (p.Ile192Ser) c.*361T>G (n.*361T>G) c.470T>G (p.Ile157Ser) | |
| X | g.154992962A>G | CA414919417 | F8 | c.575T>C (p.Ile192Thr) c.*361T>C (n.*361T>C) c.470T>C (p.Ile157Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.154992962A>T | CA414919418 | F8 | c.575T>A (p.Ile192Asn) c.*361T>A (n.*361T>A) c.470T>A (p.Ile157Asn) | |
| X | g.154992967_154993001del | CA2695238448 | F8 | c.541_575del (p.Val181TrpfsTer7) c.*327_*361del (n.*327_*361del) c.436_470del (p.Val146TrpfsTer7) | |
| X | g.154992963T>A | CA414919419 | F8 | c.574A>T (p.Ile192Phe) c.*360A>T (n.*360A>T) c.469A>T (p.Ile157Phe) | |
| X | g.154992963T>C | CA414919421 | F8 | c.574A>G (p.Ile192Val) c.*360A>G (n.*360A>G) c.469A>G (p.Ile157Val) | |
| X | g.154992963T>G | CA414919420 | F8 | c.574A>C (p.Ile192Leu) c.*360A>C (n.*360A>C) c.469A>C (p.Ile157Leu) | |
| X | g.154992964G>A | CA519372036 | F8 | c.573C>T (p.Leu191=) c.*359C>T (n.*359C>T) c.468C>T (p.Leu156=) | |
| X | g.154992964G>C | CA519372038 | F8 | c.573C>G (p.Leu191=) c.*359C>G (n.*359C>G) c.468C>G (p.Leu156=) | |
| X | g.154992964G>T | CA519372041 | F8 | c.573C>A (p.Leu191=) c.*359C>A (n.*359C>A) c.468C>A (p.Leu156=) | |
| X | g.154992965A>C | CA414919422 | F8 | c.572T>G (p.Leu191Arg) c.*358T>G (n.*358T>G) c.467T>G (p.Leu156Arg) | |
| X | g.154992965A>G | CA414919423 | F8 | c.572T>C (p.Leu191Pro) c.*358T>C (n.*358T>C) c.467T>C (p.Leu156Pro) | |
| X | g.154992965A>T | CA414919424 | F8 | c.572T>A (p.Leu191His) c.*358T>A (n.*358T>A) c.467T>A (p.Leu156His) | |
| X | g.154992966G>A | CA414919425 | F8 | c.571C>T (p.Leu191Phe) c.*357C>T (n.*357C>T) c.466C>T (p.Leu156Phe) | dbSNP |
| X | g.154992966G>C | CA414919426 | F8 | c.571C>G (p.Leu191Val) c.*357C>G (n.*357C>G) c.466C>G (p.Leu156Val) | |
| X | g.154992966G= | CA2466856503 | F8 | c.571C= (p.Leu191=) c.*357C= (n.*357C=) c.466C= (p.Leu156=) | |
| X | g.154992966G>T | CA414919427 | F8 | c.571C>A (p.Leu191Ile) c.*357C>A (n.*357C>A) c.466C>A (p.Leu156Ile) | |
| X | g.154992967G>A | CA519372062 | F8 | c.570C>T (p.Gly190=) c.*356C>T (n.*356C>T) c.465C>T (p.Gly155=) | |
| X | g.154992967G>C | CA519372064 | F8 | c.570C>G (p.Gly190=) c.*356C>G (n.*356C>G) c.465C>G (p.Gly155=) | |
| X | g.154992967G>T | CA519372065 | F8 | c.570C>A (p.Gly190=) c.*356C>A (n.*356C>A) c.465C>A (p.Gly155=) | |
| X | g.154992967_154992968delinsAA | CA2695238449 | F8 | c.569_570delinsTT (p.Gly190Val) c.*355_*356delinsTT (n.*355_*356delinsTT) c.464_465delinsTT (p.Gly155Val) | |
| X | g.154992968C>A | CA414919428 | F8 | c.569G>T (p.Gly190Val) c.*355G>T (n.*355G>T) c.464G>T (p.Gly155Val) | |
| X | g.154992968C>G | CA414919429 | F8 | c.569G>C (p.Gly190Ala) c.*355G>C (n.*355G>C) c.464G>C (p.Gly155Ala) | |
| X | g.154992968C>T | CA414919430 | F8 | c.569G>A (p.Gly190Asp) c.*355G>A (n.*355G>A) c.464G>A (p.Gly155Asp) | |
| X | g.154992969C>A | CA414919433 | F8 | c.568G>T (p.Gly190Cys) c.*354G>T (n.*354G>T) c.463G>T (p.Gly155Cys) | dbSNP |
| X | g.154992969C= | CA2466856504 | F8 | c.568G= (p.Gly190=) c.*354G= (n.*354G=) c.463G= (p.Gly155=) | |
| X | g.154992969C>G | CA414919432 | F8 | c.568G>C (p.Gly190Arg) c.*354G>C (n.*354G>C) c.463G>C (p.Gly155Arg) | |
| X | g.154992969C>T | CA414919431 | F8 | c.568G>A (p.Gly190Ser) c.*354G>A (n.*354G>A) c.463G>A (p.Gly155Ser) | |
| X | g.154992970T>A | CA519372076 | F8 | c.567A>T (p.Ser189=) c.*353A>T (n.*353A>T) c.462A>T (p.Ser154=) | |
| X | g.154992970T>C | CA519372077 | F8 | c.567A>G (p.Ser189=) c.*353A>G (n.*353A>G) c.462A>G (p.Ser154=) | |
| X | g.154992970T>G | CA519372079 | F8 | c.567A>C (p.Ser189=) c.*353A>C (n.*353A>C) c.462A>C (p.Ser154=) | |
| X | g.154992971G>A | CA255030 | F8 | c.566C>T (p.Ser189Leu) c.*352C>T (n.*352C>T) c.461C>T (p.Ser154Leu) | ClinVar dbSNP |
| X | g.154992971G>C | CA414919435 | F8 | c.566C>G (p.Ser189Ter) c.*352C>G (n.*352C>G) c.461C>G (p.Ser154Ter) | |
| X | g.154992971G= | CA2466856505 | F8 | c.566C= (p.Ser189=) c.*352C= (n.*352C=) c.461C= (p.Ser154=) | |
| X | g.154992971G>T | CA414919434 | F8 | c.566C>A (p.Ser189Ter) c.*352C>A (n.*352C>A) c.461C>A (p.Ser154Ter) | |
| X | g.154992972A>C | CA414919436 | F8 | c.565T>G (p.Ser189Ala) c.*351T>G (n.*351T>G) c.460T>G (p.Ser154Ala) | |
| X | g.154992972A>G | CA414919438 | F8 | c.565T>C (p.Ser189Pro) c.*351T>C (n.*351T>C) c.460T>C (p.Ser154Pro) | |
| X | g.154992972A>T | CA414919437 | F8 | c.565T>A (p.Ser189Thr) c.*351T>A (n.*351T>A) c.460T>A (p.Ser154Thr) | |
| X | g.154992973A>C | CA414919439 | F8 | c.564T>G (p.Asn188Lys) c.*350T>G (n.*350T>G) c.459T>G (p.Asn153Lys) | |
| X | g.154992973A>G | CA519372091 | F8 | c.564T>C (p.Asn188=) c.*350T>C (n.*350T>C) c.459T>C (p.Asn153=) | |
| X | g.154992973A>T | CA414919440 | F8 | c.564T>A (p.Asn188Lys) c.*350T>A (n.*350T>A) c.459T>A (p.Asn153Lys) | |
| X | g.154992974T>A | CA414919441 | F8 | c.563A>T (p.Asn188Ile) c.*349A>T (n.*349A>T) c.458A>T (p.Asn153Ile) | |
| X | g.154992974T>C | CA414919442 | F8 | c.563A>G (p.Asn188Ser) c.*349A>G (n.*349A>G) c.458A>G (p.Asn153Ser) | |
| X | g.154992974T>G | CA414919443 | F8 | c.563A>C (p.Asn188Thr) c.*349A>C (n.*349A>C) c.458A>C (p.Asn153Thr) | |
| X | g.154992975T>A | CA414919444 | F8 | c.562A>T (p.Asn188Tyr) c.*348A>T (n.*348A>T) c.457A>T (p.Asn153Tyr) | |
| X | g.154992975T>C | CA414919445 | F8 | c.562A>G (p.Asn188Asp) c.*348A>G (n.*348A>G) c.457A>G (p.Asn153Asp) | |
| X | g.154992975T>G | CA414919446 | F8 | c.562A>C (p.Asn188His) c.*348A>C (n.*348A>C) c.457A>C (p.Asn153His) | |
| X | g.154992976C>A | CA414919447 | F8 | c.561G>T (p.Leu187Phe) c.*347G>T (n.*347G>T) c.456G>T (p.Leu152Phe) | |
| X | g.154992976C>G | CA414919448 | F8 | c.561G>C (p.Leu187Phe) c.*347G>C (n.*347G>C) c.456G>C (p.Leu152Phe) | |
| X | g.154992976C>T | CA519372100 | F8 | c.561G>A (p.Leu187=) c.*347G>A (n.*347G>A) c.456G>A (p.Leu152=) | |
| X | g.154992977A>C | CA414919449 | F8 | c.560T>G (p.Leu187Trp) c.*346T>G (n.*346T>G) c.455T>G (p.Leu152Trp) | |
| X | g.154992977A>G | CA414919450 | F8 | c.560T>C (p.Leu187Ser) c.*346T>C (n.*346T>C) c.455T>C (p.Leu152Ser) | |
| X | g.154992977A>T | CA414919451 | F8 | c.560T>A (p.Leu187Ter) c.*346T>A (n.*346T>A) c.455T>A (p.Leu152Ter) | |
| X | g.154992978A>C | CA414919452 | F8 | c.559T>G (p.Leu187Val) c.*345T>G (n.*345T>G) c.454T>G (p.Leu152Val) | |
| X | g.154992978A>G | CA519372127 | F8 | c.559T>C (p.Leu187=) c.*345T>C (n.*345T>C) c.454T>C (p.Leu152=) | |
| X | g.154992978A>T | CA414919453 | F8 | c.559T>A (p.Leu187Met) c.*345T>A (n.*345T>A) c.454T>A (p.Leu152Met) | |
| X | g.154992978_154992980del | CA2695238450 | F8 | c.557_559del (p.Asp186_Leu187delinsVal) c.*343_*345del (n.*343_*345del) c.452_454del (p.Asp151_Leu152delinsVal) | |
| X | g.154992979G>A | CA519372133 | F8 | c.558C>T (p.Asp186=) c.*344C>T (n.*344C>T) c.453C>T (p.Asp151=) | |
| X | g.154992979G>C | CA414919454 | F8 | c.558C>G (p.Asp186Glu) c.*344C>G (n.*344C>G) c.453C>G (p.Asp151Glu) | |
| X | g.154992979G= | CA2466856506 | F8 | c.558C= (p.Asp186=) c.*344C= (n.*344C=) c.453C= (p.Asp151=) | |
| X | g.154992979G>T | CA414919455 | F8 | c.558C>A (p.Asp186Glu) c.*344C>A (n.*344C>A) c.453C>A (p.Asp151Glu) | ClinVar dbSNP |
| X | g.154992980T>A | CA414919456 | F8 | c.557A>T (p.Asp186Val) c.*343A>T (n.*343A>T) c.452A>T (p.Asp151Val) | |
| X | g.154992980T>C | CA414919457 | F8 | c.557A>G (p.Asp186Gly) c.*343A>G (n.*343A>G) c.452A>G (p.Asp151Gly) | ClinVar gnomAD v4 |
| X | g.154992980T>G | CA414919458 | F8 | c.557A>C (p.Asp186Ala) c.*343A>C (n.*343A>C) c.452A>C (p.Asp151Ala) | gnomAD v4 |
| X | g.154992981C>A | CA414919459 | F8 | c.556G>T (p.Asp186Tyr) c.*342G>T (n.*342G>T) c.451G>T (p.Asp151Tyr) | |
| X | g.154992981C= | CA2466856507 | F8 | c.556G= (p.Asp186=) c.*342G= (n.*342G=) c.451G= (p.Asp151=) | |
| X | g.154992981C>G | CA414919460 | F8 | c.556G>C (p.Asp186His) c.*342G>C (n.*342G>C) c.451G>C (p.Asp151His) | dbSNP |
| X | g.154992981C>T | CA414919461 | F8 | c.556G>A (p.Asp186Asn) c.*342G>A (n.*342G>A) c.451G>A (p.Asp151Asn) | |
| X | g.154992982T>A | CA414919462 | F8 | c.555A>T (p.Lys185Asn) c.*341A>T (n.*341A>T) c.450A>T (p.Lys150Asn) | |
| X | g.154992982T>C | CA519372162 | F8 | c.555A>G (p.Lys185=) c.*341A>G (n.*341A>G) c.450A>G (p.Lys150=) | |
| X | g.154992982T>G | CA414919463 | F8 | c.555A>C (p.Lys185Asn) c.*341A>C (n.*341A>C) c.450A>C (p.Lys150Asn) | |
| X | g.154992984_154992985del | CA2695238451 | F8 | c.554_555del (p.Lys185ArgfsTer14) c.*340_*341del (n.*340_*341del) c.449_450del (p.Lys150ArgfsTer14) | |
| X | g.154992983T>A | CA414919464 | F8 | c.554A>T (p.Lys185Ile) c.*340A>T (n.*340A>T) c.449A>T (p.Lys150Ile) | |
| X | g.154992983T>C | CA414919465 | F8 | c.554A>G (p.Lys185Arg) c.*340A>G (n.*340A>G) c.449A>G (p.Lys150Arg) | |
| X | g.154992983T>G | CA255067 | F8 | c.554A>C (p.Lys185Thr) c.*340A>C (n.*340A>C) c.449A>C (p.Lys150Thr) | ClinVar dbSNP |
| X | g.154992983T= | CA2466856508 | F8 | c.554A= (p.Lys185=) c.*340A= (n.*340A=) c.449A= (p.Lys150=) | |
| X | g.154992984T>A | CA414919466 | F8 | c.553A>T (p.Lys185Ter) c.*339A>T (n.*339A>T) c.448A>T (p.Lys150Ter) | |
| X | g.154992984T>C | CA414919468 | F8 | c.553A>G (p.Lys185Glu) c.*339A>G (n.*339A>G) c.448A>G (p.Lys150Glu) | |
| X | g.154992984T>G | CA414919467 | F8 | c.553A>C (p.Lys185Gln) c.*339A>C (n.*339A>C) c.448A>C (p.Lys150Gln) | |
| X | g.154992985T>A | CA519372186 | F8 | c.552A>T (p.Val184=) c.*338A>T (n.*338A>T) c.447A>T (p.Val149=) | |
| X | g.154992985T>C | CA519372189 | F8 | c.552A>G (p.Val184=) c.*338A>G (n.*338A>G) c.447A>G (p.Val149=) | |
| X | g.154992985T>G | CA519372191 | F8 | c.552A>C (p.Val184=) c.*338A>C (n.*338A>C) c.447A>C (p.Val149=) | |
| X | g.154992986A>C | CA414919469 | F8 | c.551T>G (p.Val184Gly) c.*337T>G (n.*337T>G) c.446T>G (p.Val149Gly) | |
| X | g.154992986A>G | CA414919470 | F8 | c.551T>C (p.Val184Ala) c.*337T>C (n.*337T>C) c.446T>C (p.Val149Ala) | |
| X | g.154992986A>T | CA414919471 | F8 | c.551T>A (p.Val184Glu) c.*337T>A (n.*337T>A) c.446T>A (p.Val149Glu) | |
| X | g.154992987C>A | CA414919472 | F8 | c.550G>T (p.Val184Leu) c.*336G>T (n.*336G>T) c.445G>T (p.Val149Leu) | |
| X | g.154992987C>G | CA414919473 | F8 | c.550G>C (p.Val184Leu) c.*336G>C (n.*336G>C) c.445G>C (p.Val149Leu) | |
| X | g.154992987C>T | CA414919474 | F8 | c.550G>A (p.Val184Ile) c.*336G>A (n.*336G>A) c.445G>A (p.Val149Ile) | |
| X | g.154992988C>A | CA519372206 | F8 | c.549G>T (p.Leu183=) c.*335G>T (n.*335G>T) c.444G>T (p.Leu148=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154992988C= | CA2466856509 | F8 | c.549G= (p.Leu183=) c.*335G= (n.*335G=) c.444G= (p.Leu148=) | |
| X | g.154992988C>G | CA519372208 | F8 | c.549G>C (p.Leu183=) c.*335G>C (n.*335G>C) c.444G>C (p.Leu148=) | |
| X | g.154992988C>T | CA519372211 | F8 | c.549G>A (p.Leu183=) c.*335G>A (n.*335G>A) c.444G>A (p.Leu148=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154992989A>C | CA414919475 | F8 | c.548T>G (p.Leu183Arg) c.*334T>G (n.*334T>G) c.443T>G (p.Leu148Arg) | |
| X | g.154992989A>G | CA414919476 | F8 | c.548T>C (p.Leu183Pro) c.*334T>C (n.*334T>C) c.443T>C (p.Leu148Pro) | |
| X | g.154992989A>T | CA414919477 | F8 | c.548T>A (p.Leu183Gln) c.*334T>A (n.*334T>A) c.443T>A (p.Leu148Gln) | |
| X | g.154992990G>A | CA519372227 | F8 | c.547C>T (p.Leu183=) c.*333C>T (n.*333C>T) c.442C>T (p.Leu148=) | |
| X | g.154992990G>C | CA414919478 | F8 | c.547C>G (p.Leu183Val) c.*333C>G (n.*333C>G) c.442C>G (p.Leu148Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154992990G= | CA2466856510 | F8 | c.547C= (p.Leu183=) c.*333C= (n.*333C=) c.442C= (p.Leu148=) | |
| X | g.154992990G>T | CA414919479 | F8 | c.547C>A (p.Leu183Met) c.*333C>A (n.*333C>A) c.442C>A (p.Leu148Met) | |
| X | g.154992991G>A | CA10568576 | F8 | c.546C>T (p.Asp182=) c.*332C>T (n.*332C>T) c.441C>T (p.Asp147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154992991G>C | CA414919481 | F8 | c.546C>G (p.Asp182Glu) c.*332C>G (n.*332C>G) c.441C>G (p.Asp147Glu) | |
| X | g.154992991G= | CA2466856511 | F8 | c.546C= (p.Asp182=) c.*332C= (n.*332C=) c.441C= (p.Asp147=) | |
| X | g.154992991G>T | CA414919480 | F8 | c.546C>A (p.Asp182Glu) c.*332C>A (n.*332C>A) c.441C>A (p.Asp147Glu) | |
| X | g.154992992T>A | CA414919482 | F8 | c.545A>T (p.Asp182Val) c.*331A>T (n.*331A>T) c.440A>T (p.Asp147Val) | |
| X | g.154992992T>C | CA414919483 | F8 | c.545A>G (p.Asp182Gly) c.*331A>G (n.*331A>G) c.440A>G (p.Asp147Gly) | |
| X | g.154992992T>G | CA414919484 | F8 | c.545A>C (p.Asp182Ala) c.*331A>C (n.*331A>C) c.440A>C (p.Asp147Ala) | dbSNP |
| X | g.154992992T= | CA2466856512 | F8 | c.545A= (p.Asp182=) c.*331A= (n.*331A=) c.440A= (p.Asp147=) | |
| X | g.154992992delinsAG | CA2695238452 | F8 | c.545delinsCT (p.Asp182AlafsTer18) c.*331delinsCT (n.*331delinsCT) c.440delinsCT (p.Asp147AlafsTer18) | |
| X | g.154992993C>A | CA414919485 | F8 | c.544G>T (p.Asp182Tyr) c.*330G>T (n.*330G>T) c.439G>T (p.Asp147Tyr) | dbSNP |
| X | g.154992993C= | CA2466856513 | F8 | c.544G= (p.Asp182=) c.*330G= (n.*330G=) c.439G= (p.Asp147=) | |
| X | g.154992993C>G | CA414919486 | F8 | c.544G>C (p.Asp182His) c.*330G>C (n.*330G>C) c.439G>C (p.Asp147His) | |
| X | g.154992993C>T | CA10568577 | F8 | c.544G>A (p.Asp182Asn) c.*330G>A (n.*330G>A) c.439G>A (p.Asp147Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154992994C>A | CA519372252 | F8 | c.543G>T (p.Val181=) c.*329G>T (n.*329G>T) c.438G>T (p.Val146=) | |
| X | g.154992994C>G | CA519372253 | F8 | c.543G>C (p.Val181=) c.*329G>C (n.*329G>C) c.438G>C (p.Val146=) | |
| X | g.154992994C>T | CA519372250 | F8 | c.543G>A (p.Val181=) c.*329G>A (n.*329G>A) c.438G>A (p.Val146=) | |
| X | g.154992995A>C | CA414919487 | F8 | c.542T>G (p.Val181Gly) c.*328T>G (n.*328T>G) c.437T>G (p.Val146Gly) | |
| X | g.154992995A>G | CA414919488 | F8 | c.542T>C (p.Val181Ala) c.*328T>C (n.*328T>C) c.437T>C (p.Val146Ala) | |
| X | g.154992995A>T | CA414919489 | F8 | c.542T>A (p.Val181Glu) c.*328T>A (n.*328T>A) c.437T>A (p.Val146Glu) | |
| X | g.154992996C>A | CA414919490 | F8 | c.541G>T (p.Val181Leu) c.*327G>T (n.*327G>T) c.436G>T (p.Val146Leu) | |
| X | g.154992996C= | CA2466856514 | F8 | c.541G= (p.Val181=) c.*327G= (n.*327G=) c.436G= (p.Val146=) | |
| X | g.154992996C>G | CA414919491 | F8 | c.541G>C (p.Val181Leu) c.*327G>C (n.*327G>C) c.436G>C (p.Val146Leu) | |
| X | g.154992996C>T | CA255066 | F8 | c.541G>A (p.Val181Met) c.*327G>A (n.*327G>A) c.436G>A (p.Val146Met) | ClinVar dbSNP gnomAD v4 |
| X | g.154992997A= | CA2466856515 | F8 | c.540T= (p.His180=) c.*326T= (n.*326T=) c.435T= (p.His145=) | |
| X | g.154992997A>C | CA414919493 | F8 | c.540T>G (p.His180Gln) c.*326T>G (n.*326T>G) c.435T>G (p.His145Gln) | |
| X | g.154992997A>G | CA10568578 | F8 | c.540T>C (p.His180=) c.*326T>C (n.*326T>C) c.435T>C (p.His145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154992997A>T | CA414919492 | F8 | c.540T>A (p.His180Gln) c.*326T>A (n.*326T>A) c.435T>A (p.His145Gln) | |
| X | g.154992998T>A | CA414919494 | F8 | c.539A>T (p.His180Leu) c.*325A>T (n.*325A>T) c.434A>T (p.His145Leu) | |
| X | g.154992998T>C | CA414919495 | F8 | c.539A>G (p.His180Arg) c.*325A>G (n.*325A>G) c.434A>G (p.His145Arg) | COSMIC COSMIC |
| X | g.154992998T>G | CA414919496 | F8 | c.539A>C (p.His180Pro) c.*325A>C (n.*325A>C) c.434A>C (p.His145Pro) | gnomAD v4 |
| X | g.154992999G>A | CA414919497 | F8 | c.538C>T (p.His180Tyr) c.*324C>T (n.*324C>T) c.433C>T (p.His145Tyr) | COSMIC COSMIC |
| X | g.154992999G>C | CA414919498 | F8 | c.538C>G (p.His180Asp) c.*324C>G (n.*324C>G) c.433C>G (p.His145Asp) | |
| X | g.154992999G>T | CA414919499 | F8 | c.538C>A (p.His180Asn) c.*324C>A (n.*324C>A) c.433C>A (p.His145Asn) | |
| X | g.154993000A>C | CA519372298 | F8 | c.537T>G (p.Ser179=) c.*323T>G (n.*323T>G) c.432T>G (p.Ser144=) | |
| X | g.154993000A>G | CA519372304 | F8 | c.537T>C (p.Ser179=) c.*323T>C (n.*323T>C) c.432T>C (p.Ser144=) | |
| X | g.154993000A>T | CA519372302 | F8 | c.537T>A (p.Ser179=) c.*323T>A (n.*323T>A) c.432T>A (p.Ser144=) | |
| X | g.154993001G>A | CA414919500 | F8 | c.536C>T (p.Ser179Phe) c.*322C>T (n.*322C>T) c.431C>T (p.Ser144Phe) | dbSNP |
| X | g.154993001G>C | CA414919501 | F8 | c.536C>G (p.Ser179Cys) c.*322C>G (n.*322C>G) c.431C>G (p.Ser144Cys) | |
| X | g.154993001G= | CA2466856516 | F8 | c.536C= (p.Ser179=) c.*322C= (n.*322C=) c.431C= (p.Ser144=) | |
| X | g.154993001G>T | CA414919502 | F8 | c.536C>A (p.Ser179Tyr) c.*322C>A (n.*322C>A) c.431C>A (p.Ser144Tyr) | dbSNP |
| X | g.154993002A= | CA2466856517 | F8 | c.535T= (p.Ser179=) c.*321T= (n.*321T=) c.430T= (p.Ser144=) | |
| X | g.154993002A>C | CA414919505 | F8 | c.535T>G (p.Ser179Ala) c.*321T>G (n.*321T>G) c.430T>G (p.Ser144Ala) | |
| X | g.154993002A>G | CA414919504 | F8 | c.535T>C (p.Ser179Pro) c.*321T>C (n.*321T>C) c.430T>C (p.Ser144Pro) | dbSNP |
| X | g.154993002A>T | CA414919503 | F8 | c.535T>A (p.Ser179Thr) c.*321T>A (n.*321T>A) c.430T>A (p.Ser144Thr) | |
| X | g.154993003A>C | CA519372316 | F8 | c.534T>G (p.Leu178=) c.*320T>G (n.*320T>G) c.429T>G (p.Leu143=) | |
| X | g.154993003A>G | CA519372319 | F8 | c.534T>C (p.Leu178=) c.*320T>C (n.*320T>C) c.429T>C (p.Leu143=) | |
| X | g.154993003A>T | CA519372324 | F8 | c.534T>A (p.Leu178=) c.*320T>A (n.*320T>A) c.429T>A (p.Leu143=) | |
| X | g.154993004A>C | CA414919506 | F8 | c.533T>G (p.Leu178Arg) c.*319T>G (n.*319T>G) c.428T>G (p.Leu143Arg) | |
| X | g.154993004A>G | CA414919507 | F8 | c.533T>C (p.Leu178Pro) c.*319T>C (n.*319T>C) c.428T>C (p.Leu143Pro) | |
| X | g.154993004A>T | CA414919508 | F8 | c.533T>A (p.Leu178His) c.*319T>A (n.*319T>A) c.428T>A (p.Leu143His) | |
| X | g.154993005G>A | CA414919509 | F8 | c.532C>T (p.Leu178Phe) c.*318C>T (n.*318C>T) c.427C>T (p.Leu143Phe) | |
| X | g.154993005G>C | CA414919510 | F8 | c.532C>G (p.Leu178Val) c.*318C>G (n.*318C>G) c.427C>G (p.Leu143Val) | gnomAD v4 |
| X | g.154993005G>T | CA414919511 | F8 | c.532C>A (p.Leu178Ile) c.*318C>A (n.*318C>A) c.427C>A (p.Leu143Ile) | |
| X | g.154993006A>C | CA414919512 | F8 | c.531T>G (p.Tyr177Ter) c.*317T>G (n.*317T>G) c.426T>G (p.Tyr142Ter) | |
| X | g.154993006A>G | CA519372347 | F8 | c.531T>C (p.Tyr177=) c.*317T>C (n.*317T>C) c.426T>C (p.Tyr142=) | gnomAD v4 |
| X | g.154993006A>T | CA414919513 | F8 | c.531T>A (p.Tyr177Ter) c.*317T>A (n.*317T>A) c.426T>A (p.Tyr142Ter) | |
| X | g.154993007T>A | CA414919514 | F8 | c.530A>T (p.Tyr177Phe) c.*316A>T (n.*316A>T) c.425A>T (p.Tyr142Phe) | |
| X | g.154993007T>C | CA414919515 | F8 | c.530A>G (p.Tyr177Cys) c.*316A>G (n.*316A>G) c.425A>G (p.Tyr142Cys) | |
| X | g.154993007T>G | CA414919516 | F8 | c.530A>C (p.Tyr177Ser) c.*316A>C (n.*316A>C) c.425A>C (p.Tyr142Ser) | |
| X | g.154993008A>C | CA414919519 | F8 | c.529T>G (p.Tyr177Asp) c.*315T>G (n.*315T>G) c.424T>G (p.Tyr142Asp) | |
| X | g.154993008A>G | CA414919518 | F8 | c.529T>C (p.Tyr177His) c.*315T>C (n.*315T>C) c.424T>C (p.Tyr142His) | |
| X | g.154993008A>T | CA414919517 | F8 | c.529T>A (p.Tyr177Asn) c.*315T>A (n.*315T>A) c.424T>A (p.Tyr142Asn) | |
| X | g.154993009T>A | CA519372375 | F8 | c.528A>T (p.Ser176=) c.*314A>T (n.*314A>T) c.423A>T (p.Ser141=) | |
| X | g.154993009T>C | CA519372382 | F8 | c.528A>G (p.Ser176=) c.*314A>G (n.*314A>G) c.423A>G (p.Ser141=) | |
| X | g.154993009T>G | CA519372385 | F8 | c.528A>C (p.Ser176=) c.*314A>C (n.*314A>C) c.423A>C (p.Ser141=) | |
| X | g.154993010G>A | CA10568579 | F8 | c.527C>T (p.Ser176Leu) c.*313C>T (n.*313C>T) c.422C>T (p.Ser141Leu) | dbSNP ExAC |
| X | g.154993010G>C | CA414919520 | F8 | c.527C>G (p.Ser176Ter) c.*313C>G (n.*313C>G) c.422C>G (p.Ser141Ter) | |
| X | g.154993010G= | CA2466856518 | F8 | c.527C= (p.Ser176=) c.*313C= (n.*313C=) c.422C= (p.Ser141=) | |
| X | g.154993010G>T | CA414919521 | F8 | c.527C>A (p.Ser176Ter) c.*313C>A (n.*313C>A) c.422C>A (p.Ser141Ter) | |
| X | g.154993011A>C | CA414919522 | F8 | c.526T>G (p.Ser176Ala) c.*312T>G (n.*312T>G) c.421T>G (p.Ser141Ala) | |
| X | g.154993011A>G | CA414919523 | F8 | c.526T>C (p.Ser176Pro) c.*312T>C (n.*312T>C) c.421T>C (p.Ser141Pro) | |
| X | g.154993011A>T | CA414919524 | F8 | c.526T>A (p.Ser176Thr) c.*312T>A (n.*312T>A) c.421T>A (p.Ser141Thr) | |
| X | g.154993012G>A | CA519372399 | F8 | c.525C>T (p.Tyr175=) c.*311C>T (n.*311C>T) c.420C>T (p.Tyr140=) | |
| X | g.154993012G>C | CA414919525 | F8 | c.525C>G (p.Tyr175Ter) c.*311C>G (n.*311C>G) c.420C>G (p.Tyr140Ter) | |
| X | g.154993012G>T | CA414919526 | F8 | c.525C>A (p.Tyr175Ter) c.*311C>A (n.*311C>A) c.420C>A (p.Tyr140Ter) | |
| X | g.154993013T>A | CA414919527 | F8 | c.524A>T (p.Tyr175Phe) c.*310A>T (n.*310A>T) c.419A>T (p.Tyr140Phe) | |
| X | g.154993013T>C | CA414919528 | F8 | c.524A>G (p.Tyr175Cys) c.*310A>G (n.*310A>G) c.419A>G (p.Tyr140Cys) | dbSNP |
| X | g.154993013T>G | CA414919529 | F8 | c.524A>C (p.Tyr175Ser) c.*310A>C (n.*310A>C) c.419A>C (p.Tyr140Ser) | |
| X | g.154993013T= | CA2466856519 | F8 | c.524A= (p.Tyr175=) c.*310A= (n.*310A=) c.419A= (p.Tyr140=) | |
| X | g.154993014A= | CA2466856520 | F8 | c.523T= (p.Tyr175=) c.*309T= (n.*309T=) c.418T= (p.Tyr140=) | |
| X | g.154993014A>C | CA414919532 | F8 | c.523T>G (p.Tyr175Asp) c.*309T>G (n.*309T>G) c.418T>G (p.Tyr140Asp) | |
| X | g.154993014A>G | CA414919531 | F8 | c.523T>C (p.Tyr175His) c.*309T>C (n.*309T>C) c.418T>C (p.Tyr140His) | dbSNP gnomAD v4 |
| X | g.154993014A>T | CA414919530 | F8 | c.523T>A (p.Tyr175Asn) c.*309T>A (n.*309T>A) c.418T>A (p.Tyr140Asn) | |
| X | g.154993017_154993021del | CA2695238453 | F8 | c.519_523del (p.Thr174LeufsTer24) c.*305_*309del (n.*305_*309del) c.414_418del (p.Thr139LeufsTer24) | |
| X | g.154993015G>A | CA519372423 | F8 | c.522C>T (p.Thr174=) c.*308C>T (n.*308C>T) c.417C>T (p.Thr139=) | |
| X | g.154993015G>C | CA519372432 | F8 | c.522C>G (p.Thr174=) c.*308C>G (n.*308C>G) c.417C>G (p.Thr139=) | |
| X | g.154993015G>T | CA519372430 | F8 | c.522C>A (p.Thr174=) c.*308C>A (n.*308C>A) c.417C>A (p.Thr139=) | |
| X | g.154993016del | CA2695238454 | F8 | c.522del (p.Tyr175ThrfsTer10) c.*308del (n.*308del) c.417del (p.Tyr140ThrfsTer10) | |
| X | g.154993016G>A | CA414919533 | F8 | c.521C>T (p.Thr174Ile) c.*307C>T (n.*307C>T) c.416C>T (p.Thr139Ile) | ClinVar dbSNP |
| X | g.154993016G>C | CA414919534 | F8 | c.521C>G (p.Thr174Ser) c.*307C>G (n.*307C>G) c.416C>G (p.Thr139Ser) | |
| X | g.154993016G= | CA2466856521 | F8 | c.521C= (p.Thr174=) c.*307C= (n.*307C=) c.416C= (p.Thr139=) | |
| X | g.154993016G>T | CA414919535 | F8 | c.521C>A (p.Thr174Asn) c.*307C>A (n.*307C>A) c.416C>A (p.Thr139Asn) | |
| X | g.154993017T>A | CA414919536 | F8 | c.520A>T (p.Thr174Ser) c.*306A>T (n.*306A>T) c.415A>T (p.Thr139Ser) | |
| X | g.154993017T>C | CA414919537 | F8 | c.520A>G (p.Thr174Ala) c.*306A>G (n.*306A>G) c.415A>G (p.Thr139Ala) | ClinVar |
| X | g.154993017T>G | CA414919538 | F8 | c.520A>C (p.Thr174Pro) c.*306A>C (n.*306A>C) c.415A>C (p.Thr139Pro) | |
| X | g.154993018A= | CA2466856522 | F8 | c.519T= (p.Leu173=) c.*305T= (n.*305T=) c.414T= (p.Leu138=) | |
| X | g.154993018A>C | CA519372443 | F8 | c.519T>G (p.Leu173=) c.*305T>G (n.*305T>G) c.414T>G (p.Leu138=) | gnomAD v4 |
| X | g.154993018A>G | CA519372447 | F8 | c.519T>C (p.Leu173=) c.*305T>C (n.*305T>C) c.414T>C (p.Leu138=) | |
| X | g.154993018A>T | CA10568580 | F8 | c.519T>A (p.Leu173=) c.*305T>A (n.*305T>A) c.414T>A (p.Leu138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993019del | CA2824316549 | F8 | c.519del (p.Thr174ProfsTer11) c.*305del (n.*305del) c.414del (p.Thr139ProfsTer11) | |
| X | g.154993019A>C | CA414919539 | F8 | c.518T>G (p.Leu173Arg) c.*304T>G (n.*304T>G) c.413T>G (p.Leu138Arg) | |
| X | g.154993019A>G | CA414919540 | F8 | c.518T>C (p.Leu173Pro) c.*304T>C (n.*304T>C) c.413T>C (p.Leu138Pro) | |
| X | g.154993019A>T | CA414919541 | F8 | c.518T>A (p.Leu173His) c.*304T>A (n.*304T>A) c.413T>A (p.Leu138His) | |
| X | g.154993020G>A | CA414919542 | F8 | c.517C>T (p.Leu173Phe) c.*303C>T (n.*303C>T) c.412C>T (p.Leu138Phe) | ClinVar |
| X | g.154993020G>C | CA414919543 | F8 | c.517C>G (p.Leu173Val) c.*303C>G (n.*303C>G) c.412C>G (p.Leu138Val) | |
| X | g.154993020G>T | CA414919544 | F8 | c.517C>A (p.Leu173Ile) c.*303C>A (n.*303C>A) c.412C>A (p.Leu138Ile) | |
| X | g.154993021G>A | CA519372458 | F8 | c.516C>T (p.Cys172=) c.*302C>T (n.*302C>T) c.411C>T (p.Cys137=) | |
| X | g.154993021G>C | CA414919545 | F8 | c.516C>G (p.Cys172Trp) c.*302C>G (n.*302C>G) c.411C>G (p.Cys137Trp) | dbSNP |
| X | g.154993021G= | CA2466856523 | F8 | c.516C= (p.Cys172=) c.*302C= (n.*302C=) c.411C= (p.Cys137=) | |
| X | g.154993021G>T | CA414919546 | F8 | c.516C>A (p.Cys172Ter) c.*302C>A (n.*302C>A) c.411C>A (p.Cys137Ter) | dbSNP |
| X | g.154993022C>A | CA414919547 | F8 | c.515G>T (p.Cys172Phe) c.*301G>T (n.*301G>T) c.410G>T (p.Cys137Phe) | |
| X | g.154993022C>G | CA414919549 | F8 | c.515G>C (p.Cys172Ser) c.*301G>C (n.*301G>C) c.410G>C (p.Cys137Ser) | |
| X | g.154993022C>T | CA414919548 | F8 | c.515G>A (p.Cys172Tyr) c.*301G>A (n.*301G>A) c.410G>A (p.Cys137Tyr) | |
| X | g.154993022_154993023insTATCTTGA | CA2695238455 | F8 | c.514_515insTCAAGATA (p.Cys172PhefsTer16) c.*300_*301insTCAAGATA (n.*300_*301insTCAAGATA) c.409_410insTCAAGATA (p.Cys137PhefsTer16) | |
| X | g.154993023A>C | CA414919550 | F8 | c.514T>G (p.Cys172Gly) c.*300T>G (n.*300T>G) c.409T>G (p.Cys137Gly) | |
| X | g.154993023A>G | CA414919552 | F8 | c.514T>C (p.Cys172Arg) c.*300T>C (n.*300T>C) c.409T>C (p.Cys137Arg) | |
| X | g.154993023A>T | CA414919551 | F8 | c.514T>A (p.Cys172Ser) c.*300T>A (n.*300T>A) c.409T>A (p.Cys137Ser) | |
| X | g.154993024C>A | CA519372476 | F8 | c.513G>T (p.Leu171=) c.*299G>T (n.*299G>T) c.408G>T (p.Leu136=) | |
| X | g.154993024C= | CA2466856524 | F8 | c.513G= (p.Leu171=) c.*299G= (n.*299G=) c.408G= (p.Leu136=) | |
| X | g.154993024C>G | CA519372477 | F8 | c.513G>C (p.Leu171=) c.*299G>C (n.*299G>C) c.408G>C (p.Leu136=) | |
| X | g.154993024C>T | CA337346575 | F8 | c.513G>A (p.Leu171=) c.*299G>A (n.*299G>A) c.408G>A (p.Leu136=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154993025A= | CA2466856525 | F8 | c.512T= (p.Leu171=) c.*298T= (n.*298T=) c.407T= (p.Leu136=) c.494T= | |
| X | g.154993025A>C | CA414919553 | F8 | c.512T>G (p.Leu171Arg) c.*298T>G (n.*298T>G) c.407T>G (p.Leu136Arg) c.494T>G | dbSNP |
| X | g.154993025A>G | CA414919554 | F8 | c.512T>C (p.Leu171Pro) c.*298T>C (n.*298T>C) c.407T>C (p.Leu136Pro) c.494T>C | |
| X | g.154993025A>T | CA414919555 | F8 | c.512T>A (p.Leu171Gln) c.*298T>A (n.*298T>A) c.407T>A (p.Leu136Gln) c.494T>A | |
| X | g.154993026G>A | CA519372494 | F8 | c.511C>T (p.Leu171=) c.*297C>T (n.*297C>T) c.406C>T (p.Leu136=) c.493C>T | |
| X | g.154993026G>C | CA414919556 | F8 | c.511C>G (p.Leu171Val) c.*297C>G (n.*297C>G) c.406C>G (p.Leu136Val) c.493C>G | |
| X | g.154993026G>T | CA414919557 | F8 | c.511C>A (p.Leu171Met) c.*297C>A (n.*297C>A) c.406C>A (p.Leu136Met) c.493C>A | |
| X | g.154993027T>A | CA519372503 | F8 | c.510A>T (p.Pro170=) c.*296A>T (n.*296A>T) c.405A>T (p.Pro135=) c.492A>T (p.Pro164=) | |
| X | g.154993027T>C | CA519372506 | F8 | c.510A>G (p.Pro170=) c.*296A>G (n.*296A>G) c.405A>G (p.Pro135=) c.492A>G (p.Pro164=) | gnomAD v4 |
| X | g.154993027T>G | CA519372509 | F8 | c.510A>C (p.Pro170=) c.*296A>C (n.*296A>C) c.405A>C (p.Pro135=) c.492A>C (p.Pro164=) | |
| X | g.154993028G>A | CA414919558 | F8 | c.509C>T (p.Pro170Leu) c.*295C>T (n.*295C>T) c.404C>T (p.Pro135Leu) c.491C>T (p.Pro164Leu) | ClinVar dbSNP |
| X | g.154993028G>C | CA414919559 | F8 | c.509C>G (p.Pro170Arg) c.*295C>G (n.*295C>G) c.404C>G (p.Pro135Arg) c.491C>G (p.Pro164Arg) | |
| X | g.154993028G>T | CA414919560 | F8 | c.509C>A (p.Pro170Gln) c.*295C>A (n.*295C>A) c.404C>A (p.Pro135Gln) c.491C>A (p.Pro164Gln) | |
| X | g.154993029G>A | CA10568581 | F8 | c.508C>T (p.Pro170Ser) c.*294C>T (n.*294C>T) c.403C>T (p.Pro135Ser) c.490C>T (p.Pro164Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993029G>C | CA414919561 | F8 | c.508C>G (p.Pro170Ala) c.*294C>G (n.*294C>G) c.403C>G (p.Pro135Ala) c.490C>G (p.Pro164Ala) | |
| X | g.154993029G= | CA2466856526 | F8 | c.508C= (p.Pro170=) c.*294C= (n.*294C=) c.403C= (p.Pro135=) c.490C= (p.Pro164=) | |
| X | g.154993029G>T | CA414919562 | F8 | c.508C>A (p.Pro170Thr) c.*294C>A (n.*294C>A) c.403C>A (p.Pro135Thr) c.490C>A (p.Pro164Thr) | |
| X | g.154993030G>A | CA519372545 | F8 | c.507C>T (p.Asp169=) c.*293C>T (n.*293C>T) c.402C>T (p.Asp134=) c.489C>T (p.Asp163=) | COSMIC COSMIC |
| X | g.154993030G>C | CA414919563 | F8 | c.507C>G (p.Asp169Glu) c.*293C>G (n.*293C>G) c.402C>G (p.Asp134Glu) c.489C>G (p.Asp163Glu) | |
| X | g.154993030G>T | CA414919564 | F8 | c.507C>A (p.Asp169Glu) c.*293C>A (n.*293C>A) c.402C>A (p.Asp134Glu) c.489C>A (p.Asp163Glu) | |
| X | g.154993031T>A | CA414919565 | F8 | c.506A>T (p.Asp169Val) c.*292A>T (n.*292A>T) c.401A>T (p.Asp134Val) c.488A>T (p.Asp163Val) | |
| X | g.154993031T>C | CA414919566 | F8 | c.506A>G (p.Asp169Gly) c.*292A>G (n.*292A>G) c.401A>G (p.Asp134Gly) c.488A>G (p.Asp163Gly) | |
| X | g.154993031T>G | CA414919567 | F8 | c.506A>C (p.Asp169Ala) c.*292A>C (n.*292A>C) c.401A>C (p.Asp134Ala) c.488A>C (p.Asp163Ala) | |
| X | g.154993032C>A | CA414919568 | F8 | c.505G>T (p.Asp169Tyr) c.*291G>T (n.*291G>T) c.400G>T (p.Asp134Tyr) c.487G>T (p.Asp163Tyr) | |
| X | g.154993032C= | CA2466856527 | F8 | c.505G= (p.Asp169=) c.*291G= (n.*291G=) c.400G= (p.Asp134=) c.487G= (p.Asp163=) | |
| X | g.154993032C>G | CA414919569 | F8 | c.505G>C (p.Asp169His) c.*291G>C (n.*291G>C) c.400G>C (p.Asp134His) c.487G>C (p.Asp163His) | |
| X | g.154993032C>T | CA414919570 | F8 | c.505G>A (p.Asp169Asn) c.*291G>A (n.*291G>A) c.400G>A (p.Asp134Asn) c.487G>A (p.Asp163Asn) | ClinVar dbSNP |
| X | g.154993033A= | CA2466856528 | F8 | c.504T= (p.Ser168=) c.*290T= (n.*290T=) c.399T= (p.Ser133=) c.486T= (p.Ser162=) | |
| X | g.154993033A>C | CA519372569 | F8 | c.504T>G (p.Ser168=) c.*290T>G (n.*290T>G) c.399T>G (p.Ser133=) c.486T>G (p.Ser162=) | |
| X | g.154993033A>G | CA519372570 | F8 | c.504T>C (p.Ser168=) c.*290T>C (n.*290T>C) c.399T>C (p.Ser133=) c.486T>C (p.Ser162=) | dbSNP |
| X | g.154993033A>T | CA519372571 | F8 | c.504T>A (p.Ser168=) c.*290T>A (n.*290T>A) c.399T>A (p.Ser133=) c.486T>A (p.Ser162=) | |
| X | g.154993034G>A | CA414919571 | F8 | c.503C>T (p.Ser168Phe) c.*289C>T (n.*289C>T) c.398C>T (p.Ser133Phe) c.485C>T (p.Ser162Phe) | COSMIC COSMIC |
| X | g.154993034G>C | CA414919572 | F8 | c.503C>G (p.Ser168Cys) c.*289C>G (n.*289C>G) c.398C>G (p.Ser133Cys) c.485C>G (p.Ser162Cys) | COSMIC COSMIC |
| X | g.154993034G>T | CA414919573 | F8 | c.503C>A (p.Ser168Tyr) c.*289C>A (n.*289C>A) c.398C>A (p.Ser133Tyr) c.485C>A (p.Ser162Tyr) | |
| X | g.154993035A= | CA2466856529 | F8 | c.502T= (p.Ser168=) c.*288T= (n.*288T=) c.397T= (p.Ser133=) c.484T= (p.Ser162=) | |
| X | g.154993035A>C | CA414919576 | F8 | c.502T>G (p.Ser168Ala) c.*288T>G (n.*288T>G) c.397T>G (p.Ser133Ala) c.484T>G (p.Ser162Ala) | dbSNP |
| X | g.154993035A>G | CA414919575 | F8 | c.502T>C (p.Ser168Pro) c.*288T>C (n.*288T>C) c.397T>C (p.Ser133Pro) c.484T>C (p.Ser162Pro) | |
| X | g.154993035A>T | CA414919574 | F8 | c.502T>A (p.Ser168Thr) c.*288T>A (n.*288T>A) c.397T>A (p.Ser133Thr) c.484T>A (p.Ser162Thr) | |
| X | g.154993036G>A | CA519372583 | F8 | c.501C>T (p.Ala167=) c.*287C>T (n.*287C>T) c.396C>T (p.Ala132=) c.483C>T (p.Ala161=) | |
| X | g.154993036G>C | CA519372584 | F8 | c.501C>G (p.Ala167=) c.*287C>G (n.*287C>G) c.396C>G (p.Ala132=) c.483C>G (p.Ala161=) | |
| X | g.154993036G>T | CA519372585 | F8 | c.501C>A (p.Ala167=) c.*287C>A (n.*287C>A) c.396C>A (p.Ala132=) c.483C>A (p.Ala161=) | |
| X | g.154993037G>A | CA414919577 | F8 | c.500C>T (p.Ala167Val) c.*286C>T (n.*286C>T) c.395C>T (p.Ala132Val) c.482C>T (p.Ala161Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993037G>C | CA414919578 | F8 | c.500C>G (p.Ala167Gly) c.*286C>G (n.*286C>G) c.395C>G (p.Ala132Gly) c.482C>G (p.Ala161Gly) | |
| X | g.154993037G= | CA2466856530 | F8 | c.500C= (p.Ala167=) c.*286C= (n.*286C=) c.395C= (p.Ala132=) c.482C= (p.Ala161=) | |
| X | g.154993037G>T | CA414919579 | F8 | c.500C>A (p.Ala167Asp) c.*286C>A (n.*286C>A) c.395C>A (p.Ala132Asp) c.482C>A (p.Ala161Asp) | |
| X | g.154993038C>A | CA414919580 | F8 | c.499G>T (p.Ala167Ser) c.*285G>T (n.*285G>T) c.394G>T (p.Ala132Ser) c.481G>T (p.Ala161Ser) | |
| X | g.154993038C>G | CA414919581 | F8 | c.499G>C (p.Ala167Pro) c.*285G>C (n.*285G>C) c.394G>C (p.Ala132Pro) c.481G>C (p.Ala161Pro) | |
| X | g.154993038C>T | CA414919582 | F8 | c.499G>A (p.Ala167Thr) c.*285G>A (n.*285G>A) c.394G>A (p.Ala132Thr) c.481G>A (p.Ala161Thr) | |
| X | g.154993039C>A | CA414919583 | F8 | c.498G>T (p.Met166Ile) c.*284G>T (n.*284G>T) c.393G>T (p.Met131Ile) c.480G>T (p.Met160Ile) | |
| X | g.154993039C= | CA2466856531 | F8 | c.498G= (p.Met166=) c.*284G= (n.*284G=) c.393G= (p.Met131=) c.480G= (p.Met160=) | |
| X | g.154993039C>G | CA414919584 | F8 | c.498G>C (p.Met166Ile) c.*284G>C (n.*284G>C) c.393G>C (p.Met131Ile) c.480G>C (p.Met160Ile) | |
| X | g.154993039C>T | CA414919585 | F8 | c.498G>A (p.Met166Ile) c.*284G>A (n.*284G>A) c.393G>A (p.Met131Ile) c.480G>A (p.Met160Ile) | dbSNP |
| X | g.154993040A>C | CA414919586 | F8 | c.497T>G (p.Met166Arg) c.*283T>G (n.*283T>G) c.392T>G (p.Met131Arg) c.479T>G (p.Met160Arg) | |
| X | g.154993040A>G | CA414919587 | F8 | c.497T>C (p.Met166Thr) c.*283T>C (n.*283T>C) c.392T>C (p.Met131Thr) c.479T>C (p.Met160Thr) | |
| X | g.154993040A>T | CA414919588 | F8 | c.497T>A (p.Met166Lys) c.*283T>A (n.*283T>A) c.392T>A (p.Met131Lys) c.479T>A (p.Met160Lys) | |
| X | g.154993041T>A | CA414919589 | F8 | c.496A>T (p.Met166Leu) c.*282A>T (n.*282A>T) c.391A>T (p.Met131Leu) c.478A>T (p.Met160Leu) | |
| X | g.154993041T>C | CA414919591 | F8 | c.496A>G (p.Met166Val) c.*282A>G (n.*282A>G) c.391A>G (p.Met131Val) c.478A>G (p.Met160Val) | |
| X | g.154993041T>G | CA414919590 | F8 | c.496A>C (p.Met166Leu) c.*282A>C (n.*282A>C) c.391A>C (p.Met131Leu) c.478A>C (p.Met160Leu) | |
| X | g.154993042T>A | CA519372619 | F8 | c.495A>T (p.Pro165=) c.*281A>T (n.*281A>T) c.390A>T (p.Pro130=) c.477A>T (p.Pro159=) | |
| X | g.154993042T>C | CA519372625 | F8 | c.495A>G (p.Pro165=) c.*281A>G (n.*281A>G) c.390A>G (p.Pro130=) c.477A>G (p.Pro159=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993042T>G | CA519372626 | F8 | c.495A>C (p.Pro165=) c.*281A>C (n.*281A>C) c.390A>C (p.Pro130=) c.477A>C (p.Pro159=) | |
| X | g.154993042T= | CA2466856532 | F8 | c.495A= (p.Pro165=) c.*281A= (n.*281A=) c.390A= (p.Pro130=) c.477A= (p.Pro159=) | |
| X | g.154993043G>A | CA414919592 | F8 | c.494C>T (p.Pro165Leu) c.*280C>T (n.*280C>T) c.389C>T (p.Pro130Leu) c.476C>T (p.Pro159Leu) | dbSNP |
| X | g.154993043G>C | CA414919593 | F8 | c.494C>G (p.Pro165Arg) c.*280C>G (n.*280C>G) c.389C>G (p.Pro130Arg) c.476C>G (p.Pro159Arg) | |
| X | g.154993043G= | CA2466856533 | F8 | c.494C= (p.Pro165=) c.*280C= (n.*280C=) c.389C= (p.Pro130=) c.476C= (p.Pro159=) | |
| X | g.154993043G>T | CA414919594 | F8 | c.494C>A (p.Pro165Gln) c.*280C>A (n.*280C>A) c.389C>A (p.Pro130Gln) c.476C>A (p.Pro159Gln) | |
| X | g.154993044del | CA2499226520 | F8 | c.494del (p.Pro165GlnfsTer20) c.*280del (n.*280del) c.389del (p.Pro130GlnfsTer20) c.476del (p.Pro159GlnfsTer?) | ClinVar dbSNP |
| X | g.154993044G>A | CA255065 | F8 | c.493C>T (p.Pro165Ser) c.*279C>T (n.*279C>T) c.388C>T (p.Pro130Ser) c.475C>T (p.Pro159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154993044G>C | CA414919595 | F8 | c.493C>G (p.Pro165Ala) c.*279C>G (n.*279C>G) c.388C>G (p.Pro130Ala) c.475C>G (p.Pro159Ala) | |
| X | g.154993044G= | CA2466856534 | F8 | c.493C= (p.Pro165=) c.*279C= (n.*279C=) c.388C= (p.Pro130=) c.475C= (p.Pro159=) | |
| X | g.154993044G>T | CA414919596 | F8 | c.493C>A (p.Pro165Thr) c.*279C>A (n.*279C>A) c.388C>A (p.Pro130Thr) c.475C>A (p.Pro159Thr) |