| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154997000_154997001delinsCA | CA2466857763 | F8 | c.360_361delinsTG (p.Val120=) c.*146_*147delinsTG (n.*146_*147delinsTG) c.255_256delinsTG (p.Val85=) c.342_343delinsTG (p.Val114=) | |
| X | g.154997001A>C | CA519384108 | F8 | c.360T>G (p.Val120=) c.*146T>G (n.*146T>G) c.255T>G (p.Val85=) c.342T>G (p.Val114=) | |
| X | g.154997001A>G | CA519384109 | F8 | c.360T>C (p.Val120=) c.*146T>C (n.*146T>C) c.255T>C (p.Val85=) c.342T>C (p.Val114=) | |
| X | g.154997001A>T | CA519384110 | F8 | c.360T>A (p.Val120=) c.*146T>A (n.*146T>A) c.255T>A (p.Val85=) c.342T>A (p.Val114=) | |
| X | g.154997002del | CA873357517 | F8 | c.360del (p.Gly121ValfsTer?) c.*146del (n.*146del) c.255del (p.Gly86ValfsTer?) c.342del (p.Gly115ValfsTer?) | dbSNP |
| X | g.154997002A= | CA2466857764 | F8 | c.359T= (p.Val120=) c.*145T= (n.*145T=) c.254T= (p.Val85=) c.341T= (p.Val114=) | |
| X | g.154997002A>C | CA414919928 | F8 | c.359T>G (p.Val120Gly) c.*145T>G (n.*145T>G) c.254T>G (p.Val85Gly) c.341T>G (p.Val114Gly) | |
| X | g.154997002A>G | CA414919929 | F8 | c.359T>C (p.Val120Ala) c.*145T>C (n.*145T>C) c.254T>C (p.Val85Ala) c.341T>C (p.Val114Ala) | ClinVar dbSNP |
| X | g.154997002A>T | CA414919930 | F8 | c.359T>A (p.Val120Asp) c.*145T>A (n.*145T>A) c.254T>A (p.Val85Asp) c.341T>A (p.Val114Asp) | |
| X | g.154997003C>A | CA414919931 | F8 | c.358G>T (p.Val120Phe) c.*144G>T (n.*144G>T) c.253G>T (p.Val85Phe) c.340G>T (p.Val114Phe) | |
| X | g.154997003C>G | CA414919932 | F8 | c.358G>C (p.Val120Leu) c.*144G>C (n.*144G>C) c.253G>C (p.Val85Leu) c.340G>C (p.Val114Leu) | |
| X | g.154997003C>T | CA414919933 | F8 | c.358G>A (p.Val120Ile) c.*144G>A (n.*144G>A) c.253G>A (p.Val85Ile) c.340G>A (p.Val114Ile) | |
| X | g.154997004A>C | CA519384111 | F8 | c.357T>G (p.Ala119=) c.*143T>G (n.*143T>G) c.252T>G (p.Ala84=) c.339T>G (p.Ala113=) | |
| X | g.154997004A>G | CA519384112 | F8 | c.357T>C (p.Ala119=) c.*143T>C (n.*143T>C) c.252T>C (p.Ala84=) c.339T>C (p.Ala113=) | |
| X | g.154997004A>T | CA519384113 | F8 | c.357T>A (p.Ala119=) c.*143T>A (n.*143T>A) c.252T>A (p.Ala84=) c.339T>A (p.Ala113=) | |
| X | g.154997005G>A | CA414919934 | F8 | c.356C>T (p.Ala119Val) c.*142C>T (n.*142C>T) c.251C>T (p.Ala84Val) c.338C>T (p.Ala113Val) | COSMIC COSMIC |
| X | g.154997005G>C | CA414919935 | F8 | c.356C>G (p.Ala119Gly) c.*142C>G (n.*142C>G) c.251C>G (p.Ala84Gly) c.338C>G (p.Ala113Gly) | |
| X | g.154997005G>T | CA414919936 | F8 | c.356C>A (p.Ala119Asp) c.*142C>A (n.*142C>A) c.251C>A (p.Ala84Asp) c.338C>A (p.Ala113Asp) | |
| X | g.154997006C>A | CA414919939 | F8 | c.355G>T (p.Ala119Ser) c.*141G>T (n.*141G>T) c.250G>T (p.Ala84Ser) c.337G>T (p.Ala113Ser) | |
| X | g.154997006C= | CA2466857765 | F8 | c.355G= (p.Ala119=) c.*141G= (n.*141G=) c.250G= (p.Ala84=) c.337G= (p.Ala113=) | |
| X | g.154997006C>G | CA414919938 | F8 | c.355G>C (p.Ala119Pro) c.*141G>C (n.*141G>C) c.250G>C (p.Ala84Pro) c.337G>C (p.Ala113Pro) | ClinVar dbSNP gnomAD v4 |
| X | g.154997006C>T | CA414919937 | F8 | c.355G>A (p.Ala119Thr) c.*141G>A (n.*141G>A) c.250G>A (p.Ala84Thr) c.337G>A (p.Ala113Thr) | COSMIC COSMIC |
| X | g.154997007A>C | CA414919940 | F8 | c.354T>G (p.His118Gln) c.*140T>G (n.*140T>G) c.249T>G (p.His83Gln) c.336T>G (p.His112Gln) | |
| X | g.154997007A>G | CA519384114 | F8 | c.354T>C (p.His118=) c.*140T>C (n.*140T>C) c.249T>C (p.His83=) c.336T>C (p.His112=) | |
| X | g.154997007A>T | CA414919941 | F8 | c.354T>A (p.His118Gln) c.*140T>A (n.*140T>A) c.249T>A (p.His83Gln) c.336T>A (p.His112Gln) | COSMIC COSMIC |
| X | g.154997008T>A | CA414919942 | F8 | c.353A>T (p.His118Leu) c.*139A>T (n.*139A>T) c.248A>T (p.His83Leu) c.335A>T (p.His112Leu) | |
| X | g.154997008T>C | CA414919943 | F8 | c.353A>G (p.His118Arg) c.*139A>G (n.*139A>G) c.248A>G (p.His83Arg) c.335A>G (p.His112Arg) | dbSNP |
| X | g.154997008T>G | CA414919944 | F8 | c.353A>C (p.His118Pro) c.*139A>C (n.*139A>C) c.248A>C (p.His83Pro) c.335A>C (p.His112Pro) | dbSNP |
| X | g.154997008T= | CA2466857766 | F8 | c.353A= (p.His118=) c.*139A= (n.*139A=) c.248A= (p.His83=) c.335A= (p.His112=) | |
| X | g.154997011_154997017del | CA2695238479 | F8 | c.347_353del (p.Ser116MetfsTer?) c.*133_*139del (n.*133_*139del) c.242_248del (p.Ser81MetfsTer?) c.329_335del (p.Ser110MetfsTer?) | |
| X | g.154997009del | CA2695238480 | F8 | c.352del (p.His118MetfsTer?) c.*138del (n.*138del) c.247del (p.His83MetfsTer?) c.334del (p.His112MetfsTer?) | |
| X | g.154997009G>A | CA414919945 | F8 | c.352C>T (p.His118Tyr) c.*138C>T (n.*138C>T) c.247C>T (p.His83Tyr) c.334C>T (p.His112Tyr) | |
| X | g.154997009G>C | CA414919946 | F8 | c.352C>G (p.His118Asp) c.*138C>G (n.*138C>G) c.247C>G (p.His83Asp) c.334C>G (p.His112Asp) | |
| X | g.154997009G>T | CA414919947 | F8 | c.352C>A (p.His118Asn) c.*138C>A (n.*138C>A) c.247C>A (p.His83Asn) c.334C>A (p.His112Asn) | |
| X | g.154997010A>C | CA519384115 | F8 | c.351T>G (p.Leu117=) c.*137T>G (n.*137T>G) c.246T>G (p.Leu82=) c.333T>G (p.Leu111=) | |
| X | g.154997010A>G | CA519384116 | F8 | c.351T>C (p.Leu117=) c.*137T>C (n.*137T>C) c.246T>C (p.Leu82=) c.333T>C (p.Leu111=) | |
| X | g.154997010A>T | CA519384117 | F8 | c.351T>A (p.Leu117=) c.*137T>A (n.*137T>A) c.246T>A (p.Leu82=) c.333T>A (p.Leu111=) | |
| X | g.154997011A= | CA2466857767 | F8 | c.350T= (p.Leu117=) c.*136T= (n.*136T=) c.245T= (p.Leu82=) c.332T= (p.Leu111=) | |
| X | g.154997011A>C | CA255058 | F8 | c.350T>G (p.Leu117Arg) c.*136T>G (n.*136T>G) c.245T>G (p.Leu82Arg) c.332T>G (p.Leu111Arg) | ClinVar dbSNP |
| X | g.154997011A>G | CA414919948 | F8 | c.350T>C (p.Leu117Pro) c.*136T>C (n.*136T>C) c.245T>C (p.Leu82Pro) c.332T>C (p.Leu111Pro) | |
| X | g.154997011A>T | CA414919949 | F8 | c.350T>A (p.Leu117His) c.*136T>A (n.*136T>A) c.245T>A (p.Leu82His) c.332T>A (p.Leu111His) | |
| X | g.154997012G>A | CA10568600 | F8 | c.349C>T (p.Leu117Phe) c.*135C>T (n.*135C>T) c.244C>T (p.Leu82Phe) c.331C>T (p.Leu111Phe) | dbSNP ExAC COSMIC COSMIC |
| X | g.154997012G>C | CA414919950 | F8 | c.349C>G (p.Leu117Val) c.*135C>G (n.*135C>G) c.244C>G (p.Leu82Val) c.331C>G (p.Leu111Val) | |
| X | g.154997012G= | CA2466857768 | F8 | c.349C= (p.Leu117=) c.*135C= (n.*135C=) c.244C= (p.Leu82=) c.331C= (p.Leu111=) | |
| X | g.154997012G>T | CA414919951 | F8 | c.349C>A (p.Leu117Ile) c.*135C>A (n.*135C>A) c.244C>A (p.Leu82Ile) c.331C>A (p.Leu111Ile) | |
| X | g.154997013A>C | CA414919952 | F8 | c.348T>G (p.Ser116Arg) c.*134T>G (n.*134T>G) c.243T>G (p.Ser81Arg) c.330T>G (p.Ser110Arg) | |
| X | g.154997013A>G | CA519384118 | F8 | c.348T>C (p.Ser116=) c.*134T>C (n.*134T>C) c.243T>C (p.Ser81=) c.330T>C (p.Ser110=) | |
| X | g.154997013A>T | CA414919953 | F8 | c.348T>A (p.Ser116Arg) c.*134T>A (n.*134T>A) c.243T>A (p.Ser81Arg) c.330T>A (p.Ser110Arg) | |
| X | g.154997013_154997014dup | CA2695238481 | F8 | c.347_348dup (p.Leu117ValfsTer?) c.*133_*134dup (n.*133_*134dup) c.242_243dup (p.Leu82ValfsTer?) c.329_330dup (p.Leu111ValfsTer?) | |
| X | g.154997014C>A | CA414919954 | F8 | c.347G>T (p.Ser116Ile) c.*133G>T (n.*133G>T) c.242G>T (p.Ser81Ile) c.329G>T (p.Ser110Ile) | dbSNP gnomAD v4 |