Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154993127G>A | CA255063 | F8 | c.410C>T (p.Thr137Ile) c.*196C>T (n.*196C>T) c.305C>T (p.Thr102Ile) c.392C>T (p.Thr131Ile) | ClinVar dbSNP |
X | g.154993127G>C | CA414919791 | F8 | c.410C>G (p.Thr137Ser) c.*196C>G (n.*196C>G) c.305C>G (p.Thr102Ser) c.392C>G (p.Thr131Ser) | |
X | g.154993127G= | CA2466856569 | F8 | c.410C= (p.Thr137=) c.*196C= (n.*196C=) c.305C= (p.Thr102=) c.392C= (p.Thr131=) | |
X | g.154993127G>T | CA414919792 | F8 | c.410C>A (p.Thr137Asn) c.*196C>A (n.*196C>A) c.305C>A (p.Thr102Asn) c.392C>A (p.Thr131Asn) | |
X | g.154993128T>A | CA414919793 | F8 | c.409A>T (p.Thr137Ser) c.*195A>T (n.*195A>T) c.304A>T (p.Thr102Ser) c.391A>T (p.Thr131Ser) | |
X | g.154993128T>C | CA414919794 | F8 | c.409A>G (p.Thr137Ala) c.*195A>G (n.*195A>G) c.304A>G (p.Thr102Ala) c.391A>G (p.Thr131Ala) | gnomAD v4 |
X | g.154993128T>G | CA414919795 | F8 | c.409A>C (p.Thr137Pro) c.*195A>C (n.*195A>C) c.304A>C (p.Thr102Pro) c.391A>C (p.Thr131Pro) | |
X | g.154993129C>A | CA414919796 | F8 | c.408G>T (p.Gln136His) c.*194G>T (n.*194G>T) c.303G>T (p.Gln101His) c.390G>T (p.Gln130His) | gnomAD v4 |
X | g.154993129C>G | CA414919797 | F8 | c.408G>C (p.Gln136His) c.*194G>C (n.*194G>C) c.303G>C (p.Gln101His) c.390G>C (p.Gln130His) | |
X | g.154993129C>T | CA519373468 | F8 | c.408G>A (p.Gln136=) c.*194G>A (n.*194G>A) c.303G>A (p.Gln101=) c.390G>A (p.Gln130=) | |
X | g.154993130T>A | CA414919798 | F8 | c.407A>T (p.Gln136Leu) c.*193A>T (n.*193A>T) c.302A>T (p.Gln101Leu) c.389A>T (p.Gln130Leu) | |
X | g.154993130T>C | CA414919799 | F8 | c.407A>G (p.Gln136Arg) c.*193A>G (n.*193A>G) c.302A>G (p.Gln101Arg) c.389A>G (p.Gln130Arg) | |
X | g.154993130T>G | CA414919800 | F8 | c.407A>C (p.Gln136Pro) c.*193A>C (n.*193A>C) c.302A>C (p.Gln101Pro) c.389A>C (p.Gln130Pro) | |
X | g.154993131G>A | CA414919803 | F8 | c.406C>T (p.Gln136Ter) c.*192C>T (n.*192C>T) c.301C>T (p.Gln101Ter) c.388C>T (p.Gln130Ter) | COSMIC COSMIC |
X | g.154993131G>C | CA414919802 | F8 | c.406C>G (p.Gln136Glu) c.*192C>G (n.*192C>G) c.301C>G (p.Gln101Glu) c.388C>G (p.Gln130Glu) | |
X | g.154993131G>T | CA414919801 | F8 | c.406C>A (p.Gln136Lys) c.*192C>A (n.*192C>A) c.301C>A (p.Gln101Lys) c.388C>A (p.Gln130Lys) | |
X | g.154993132A>C | CA414919805 | F8 | c.405T>G (p.Asp135Glu) c.*191T>G (n.*191T>G) c.300T>G (p.Asp100Glu) c.387T>G (p.Asp129Glu) | |
X | g.154993132A>G | CA519373476 | F8 | c.405T>C (p.Asp135=) c.*191T>C (n.*191T>C) c.300T>C (p.Asp100=) c.387T>C (p.Asp129=) | |
X | g.154993132A>T | CA414919804 | F8 | c.405T>A (p.Asp135Glu) c.*191T>A (n.*191T>A) c.300T>A (p.Asp100Glu) c.387T>A (p.Asp129Glu) | |
X | g.154993133T>A | CA414919806 | F8 | c.404A>T (p.Asp135Val) c.*190A>T (n.*190A>T) c.299A>T (p.Asp100Val) c.386A>T (p.Asp129Val) | |
X | g.154993133T>C | CA255062 | F8 | c.404A>G (p.Asp135Gly) c.*190A>G (n.*190A>G) c.299A>G (p.Asp100Gly) c.386A>G (p.Asp129Gly) | ClinVar dbSNP |
X | g.154993133T>G | CA414919807 | F8 | c.404A>C (p.Asp135Ala) c.*190A>C (n.*190A>C) c.299A>C (p.Asp100Ala) c.386A>C (p.Asp129Ala) | |
X | g.154993133T= | CA2466856570 | F8 | c.404A= (p.Asp135=) c.*190A= (n.*190A=) c.299A= (p.Asp100=) c.386A= (p.Asp129=) | |
X | g.154993134C>A | CA414919808 | F8 | c.403G>T (p.Asp135Tyr) c.*189G>T (n.*189G>T) c.298G>T (p.Asp100Tyr) c.385G>T (p.Asp129Tyr) | ClinVar dbSNP |
X | g.154993134C= | CA2466856571 | F8 | c.403G= (p.Asp135=) c.*189G= (n.*189G=) c.298G= (p.Asp100=) c.385G= (p.Asp129=) | |
X | g.154993134C>G | CA414919809 | F8 | c.403G>C (p.Asp135His) c.*189G>C (n.*189G>C) c.298G>C (p.Asp100His) c.385G>C (p.Asp129His) | |
X | g.154993134C>T | CA414919810 | F8 | c.403G>A (p.Asp135Asn) c.*189G>A (n.*189G>A) c.298G>A (p.Asp100Asn) c.385G>A (p.Asp129Asn) | |
X | g.154993135A= | CA2466856572 | F8 | c.402T= (p.Asp134=) c.*188T= (n.*188T=) c.297T= (p.Asp99=) c.384T= (p.Asp128=) | |
X | g.154993135A>C | CA414919811 | F8 | c.402T>G (p.Asp134Glu) c.*188T>G (n.*188T>G) c.297T>G (p.Asp99Glu) c.384T>G (p.Asp128Glu) | |
X | g.154993135A>G | CA10568588 | F8 | c.402T>C (p.Asp134=) c.*188T>C (n.*188T>C) c.297T>C (p.Asp99=) c.384T>C (p.Asp128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154993135A>T | CA414919812 | F8 | c.402T>A (p.Asp134Glu) c.*188T>A (n.*188T>A) c.297T>A (p.Asp99Glu) c.384T>A (p.Asp128Glu) | |
X | g.154993136T>A | CA414919813 | F8 | c.401A>T (p.Asp134Val) c.*187A>T (n.*187A>T) c.296A>T (p.Asp99Val) c.383A>T (p.Asp128Val) | |
X | g.154993136T>C | CA414919814 | F8 | c.401A>G (p.Asp134Gly) c.*187A>G (n.*187A>G) c.296A>G (p.Asp99Gly) c.383A>G (p.Asp128Gly) | |
X | g.154993136T>G | CA414919815 | F8 | c.401A>C (p.Asp134Ala) c.*187A>C (n.*187A>C) c.296A>C (p.Asp99Ala) c.383A>C (p.Asp128Ala) | |
X | g.154993137C>A | CA414919816 | F8 | c.400G>T (p.Asp134Tyr) c.*186G>T (n.*186G>T) c.295G>T (p.Asp99Tyr) c.382G>T (p.Asp128Tyr) | |
X | g.154993137C>G | CA414919818 | F8 | c.400G>C (p.Asp134His) c.*186G>C (n.*186G>C) c.295G>C (p.Asp99His) c.382G>C (p.Asp128His) | |
X | g.154993137C>T | CA414919817 | F8 | c.400G>A (p.Asp134Asn) c.*186G>A (n.*186G>A) c.295G>A (p.Asp99Asn) c.382G>A (p.Asp128Asn) | |
X | g.154993137_154993138dup | CA2695238469 | F8 | c.399_400dup (p.Asp134ValfsTer28) c.*185_*186dup (n.*185_*186dup) c.294_295dup (p.Asp99ValfsTer28) c.381_382dup (p.Asp128ValfsTer28) | |
X | g.154993138A>C | CA414919819 | F8 | c.399T>G (p.Tyr133Ter) c.*185T>G (n.*185T>G) c.294T>G (p.Tyr98Ter) c.381T>G (p.Tyr127Ter) | |
X | g.154993138A>G | CA519373496 | F8 | c.399T>C (p.Tyr133=) c.*185T>C (n.*185T>C) c.294T>C (p.Tyr98=) c.381T>C (p.Tyr127=) | |
X | g.154993138A>T | CA414919820 | F8 | c.399T>A (p.Tyr133Ter) c.*185T>A (n.*185T>A) c.294T>A (p.Tyr98Ter) c.381T>A (p.Tyr127Ter) | |
X | g.154993139T>A | CA414919821 | F8 | c.398A>T (p.Tyr133Phe) c.*184A>T (n.*184A>T) c.293A>T (p.Tyr98Phe) c.380A>T (p.Tyr127Phe) | |
X | g.154993139T>C | CA255061 | F8 | c.398A>G (p.Tyr133Cys) c.*184A>G (n.*184A>G) c.293A>G (p.Tyr98Cys) c.380A>G (p.Tyr127Cys) | ClinVar dbSNP |
X | g.154993139T>G | CA414919822 | F8 | c.398A>C (p.Tyr133Ser) c.*184A>C (n.*184A>C) c.293A>C (p.Tyr98Ser) c.380A>C (p.Tyr127Ser) | |
X | g.154993139T= | CA2466856573 | F8 | c.398A= (p.Tyr133=) c.*184A= (n.*184A=) c.293A= (p.Tyr98=) c.380A= (p.Tyr127=) | |
X | g.154993140A= | CA2466856574 | F8 | c.397T= (p.Tyr133=) c.*183T= (n.*183T=) c.292T= (p.Tyr98=) c.379T= (p.Tyr127=) | |
X | g.154993140A>C | CA414919823 | F8 | c.397T>G (p.Tyr133Asp) c.*183T>G (n.*183T>G) c.292T>G (p.Tyr98Asp) c.379T>G (p.Tyr127Asp) | |
X | g.154993140A>G | CA414919824 | F8 | c.397T>C (p.Tyr133His) c.*183T>C (n.*183T>C) c.292T>C (p.Tyr98His) c.379T>C (p.Tyr127His) | dbSNP |
X | g.154993140A>T | CA414919825 | F8 | c.397T>A (p.Tyr133Asn) c.*183T>A (n.*183T>A) c.292T>A (p.Tyr98Asn) c.379T>A (p.Tyr127Asn) | |
X | g.154993141T>A | CA414919826 | F8 | c.396A>T (p.Glu132Asp) c.*182A>T (n.*182A>T) c.291A>T (p.Glu97Asp) c.378A>T (p.Glu126Asp) |