Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | 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) |