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) |