| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| X | g.154997014C= | CA2466857769 | F8 | c.347G= (p.Ser116=) c.*133G= (n.*133G=) c.242G= (p.Ser81=) c.329G= (p.Ser110=) | |
| X | g.154997014C>G | CA414919955 | F8 | c.347G>C (p.Ser116Thr) c.*133G>C (n.*133G>C) c.242G>C (p.Ser81Thr) c.329G>C (p.Ser110Thr) | COSMIC COSMIC |
| X | g.154997014C>T | CA414919956 | F8 | c.347G>A (p.Ser116Asn) c.*133G>A (n.*133G>A) c.242G>A (p.Ser81Asn) c.329G>A (p.Ser110Asn) | |
| X | g.154997014_154997018del | CA2695238482 | F8 | c.343_347del (p.Val115SerfsTer13) c.*129_*133del (n.*129_*133del) c.238_242del (p.Val80SerfsTer13) c.325_329del (p.Val109SerfsTer13) | |
| X | g.154997015T>A | CA414919957 | F8 | c.346A>T (p.Ser116Cys) c.*132A>T (n.*132A>T) c.241A>T (p.Ser81Cys) c.328A>T (p.Ser110Cys) | |
| X | g.154997015T>C | CA414919958 | F8 | c.346A>G (p.Ser116Gly) c.*132A>G (n.*132A>G) c.241A>G (p.Ser81Gly) c.328A>G (p.Ser110Gly) | |
| X | g.154997015T>G | CA414919959 | F8 | c.346A>C (p.Ser116Arg) c.*132A>C (n.*132A>C) c.241A>C (p.Ser81Arg) c.328A>C (p.Ser110Arg) | COSMIC COSMIC |
| X | g.154997016G>A | CA519384119 | F8 | c.345C>T (p.Val115=) c.*131C>T (n.*131C>T) c.240C>T (p.Val80=) c.327C>T (p.Val109=) | |
| X | g.154997016G>C | CA519384120 | F8 | c.345C>G (p.Val115=) c.*131C>G (n.*131C>G) c.240C>G (p.Val80=) c.327C>G (p.Val109=) | |
| X | g.154997016G>T | CA519384121 | F8 | c.345C>A (p.Val115=) c.*131C>A (n.*131C>A) c.240C>A (p.Val80=) c.327C>A (p.Val109=) | |
| X | g.154997017A= | CA2466857770 | F8 | c.344T= (p.Val115=) c.*130T= (n.*130T=) c.239T= (p.Val80=) c.326T= (p.Val109=) | |
| X | g.154997017A>C | CA414919960 | F8 | c.344T>G (p.Val115Gly) c.*130T>G (n.*130T>G) c.239T>G (p.Val80Gly) c.326T>G (p.Val109Gly) | |
| X | g.154997017A>G | CA414919961 | F8 | c.344T>C (p.Val115Ala) c.*130T>C (n.*130T>C) c.239T>C (p.Val80Ala) c.326T>C (p.Val109Ala) | dbSNP |
| X | g.154997017A>T | CA414919962 | F8 | c.344T>A (p.Val115Asp) c.*130T>A (n.*130T>A) c.239T>A (p.Val80Asp) c.326T>A (p.Val109Asp) | COSMIC COSMIC |
| X | g.154997018C>A | CA414919965 | F8 | c.343G>T (p.Val115Phe) c.*129G>T (n.*129G>T) c.238G>T (p.Val80Phe) c.325G>T (p.Val109Phe) | |
| X | g.154997018C= | CA2466857771 | F8 | c.343G= (p.Val115=) c.*129G= (n.*129G=) c.238G= (p.Val80=) c.325G= (p.Val109=) | |
| X | g.154997018C>G | CA414919964 | F8 | c.343G>C (p.Val115Leu) c.*129G>C (n.*129G>C) c.238G>C (p.Val80Leu) c.325G>C (p.Val109Leu) | dbSNP |
| X | g.154997018C>T | CA414919963 | F8 | c.343G>A (p.Val115Ile) c.*129G>A (n.*129G>A) c.238G>A (p.Val80Ile) c.325G>A (p.Val109Ile) | dbSNP gnomAD v4 |
| X | g.154997019A>C | CA519384122 | F8 | c.342T>G (p.Pro114=) c.*128T>G (n.*128T>G) c.237T>G (p.Pro79=) c.324T>G (p.Pro108=) | |
| X | g.154997019A>G | CA519384124 | F8 | c.342T>C (p.Pro114=) c.*128T>C (n.*128T>C) c.237T>C (p.Pro79=) c.324T>C (p.Pro108=) | |
| X | g.154997019A>T | CA519384123 | F8 | c.342T>A (p.Pro114=) c.*128T>A (n.*128T>A) c.237T>A (p.Pro79=) c.324T>A (p.Pro108=) | |
| X | g.154997020G>A | CA414919968 | F8 | c.341C>T (p.Pro114Leu) c.*127C>T (n.*127C>T) c.236C>T (p.Pro79Leu) c.323C>T (p.Pro108Leu) | |
| X | g.154997020G>C | CA414919966 | F8 | c.341C>G (p.Pro114Arg) c.*127C>G (n.*127C>G) c.236C>G (p.Pro79Arg) c.323C>G (p.Pro108Arg) | |
| X | g.154997020G>T | CA414919967 | F8 | c.341C>A (p.Pro114His) c.*127C>A (n.*127C>A) c.236C>A (p.Pro79His) c.323C>A (p.Pro108His) | |
| X | g.154997022_154997025dup | CA2695238483 | F8 | c.338_341dup (p.Val115SerfsTer16) c.*124_*127dup (n.*124_*127dup) c.233_236dup (p.Val80SerfsTer16) c.320_323dup (p.Val109SerfsTer16) |