| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| X | g.154997021G>A | CA414919969 | F8 | c.340C>T (p.Pro114Ser) c.*126C>T (n.*126C>T) c.235C>T (p.Pro79Ser) c.322C>T (p.Pro108Ser) | |
| X | g.154997021G>C | CA414919970 | F8 | c.340C>G (p.Pro114Ala) c.*126C>G (n.*126C>G) c.235C>G (p.Pro79Ala) c.322C>G (p.Pro108Ala) | |
| X | g.154997021G>T | CA414919971 | F8 | c.340C>A (p.Pro114Thr) c.*126C>A (n.*126C>A) c.235C>A (p.Pro79Thr) c.322C>A (p.Pro108Thr) | |
| X | g.154997022A>C | CA414919972 | F8 | c.339T>G (p.His113Gln) c.*125T>G (n.*125T>G) c.234T>G (p.His78Gln) c.321T>G (p.His107Gln) | |
| X | g.154997022A>G | CA519384125 | F8 | c.339T>C (p.His113=) c.*125T>C (n.*125T>C) c.234T>C (p.His78=) c.321T>C (p.His107=) | |
| X | g.154997022A>T | CA414919973 | F8 | c.339T>A (p.His113Gln) c.*125T>A (n.*125T>A) c.234T>A (p.His78Gln) c.321T>A (p.His107Gln) | |
| X | g.154997023T>A | CA414919974 | F8 | c.338A>T (p.His113Leu) c.*124A>T (n.*124A>T) c.233A>T (p.His78Leu) c.320A>T (p.His107Leu) | |
| X | g.154997023T>C | CA414919975 | F8 | c.338A>G (p.His113Arg) c.*124A>G (n.*124A>G) c.233A>G (p.His78Arg) c.320A>G (p.His107Arg) | |
| X | g.154997023T>G | CA414919976 | F8 | c.338A>C (p.His113Pro) c.*124A>C (n.*124A>C) c.233A>C (p.His78Pro) c.320A>C (p.His107Pro) | |
| X | g.154997024G>A | CA414919977 | F8 | c.337C>T (p.His113Tyr) c.*123C>T (n.*123C>T) c.232C>T (p.His78Tyr) c.319C>T (p.His107Tyr) | dbSNP |
| X | g.154997024G>C | CA414919978 | F8 | c.337C>G (p.His113Asp) c.*123C>G (n.*123C>G) c.232C>G (p.His78Asp) c.319C>G (p.His107Asp) | |
| X | g.154997024G= | CA2466857772 | F8 | c.337C= (p.His113=) c.*123C= (n.*123C=) c.232C= (p.His78=) c.319C= (p.His107=) | |
| X | g.154997024G>T | CA414919979 | F8 | c.337C>A (p.His113Asn) c.*123C>A (n.*123C>A) c.232C>A (p.His78Asn) c.319C>A (p.His107Asn) | COSMIC COSMIC |
| X | g.154997025G>A | CA519384126 | F8 | c.336C>T (p.Ser112=) c.*122C>T (n.*122C>T) c.231C>T (p.Ser77=) c.318C>T (p.Ser106=) | |
| X | g.154997025G>C | CA519384127 | F8 | c.336C>G (p.Ser112=) c.*122C>G (n.*122C>G) c.231C>G (p.Ser77=) c.318C>G (p.Ser106=) | |
| X | g.154997025G>T | CA519384128 | F8 | c.336C>A (p.Ser112=) c.*122C>A (n.*122C>A) c.231C>A (p.Ser77=) c.318C>A (p.Ser106=) | |
| X | g.154997026G>A | CA414919982 | F8 | c.335C>T (p.Ser112Phe) c.*121C>T (n.*121C>T) c.230C>T (p.Ser77Phe) c.317C>T (p.Ser106Phe) | ClinVar dbSNP |
| X | g.154997026G>C | CA414919980 | F8 | c.335C>G (p.Ser112Cys) c.*121C>G (n.*121C>G) c.230C>G (p.Ser77Cys) c.317C>G (p.Ser106Cys) | |
| X | g.154997026G= | CA2466857773 | F8 | c.335C= (p.Ser112=) c.*121C= (n.*121C=) c.230C= (p.Ser77=) c.317C= (p.Ser106=) | |
| X | g.154997026G>T | CA414919981 | F8 | c.335C>A (p.Ser112Tyr) c.*121C>A (n.*121C>A) c.230C>A (p.Ser77Tyr) c.317C>A (p.Ser106Tyr) | |
| X | g.154997027A>C | CA414919983 | F8 | c.334T>G (p.Ser112Ala) c.*120T>G (n.*120T>G) c.229T>G (p.Ser77Ala) c.316T>G (p.Ser106Ala) | |
| X | g.154997027A>G | CA414919984 | F8 | c.334T>C (p.Ser112Pro) c.*120T>C (n.*120T>C) c.229T>C (p.Ser77Pro) c.316T>C (p.Ser106Pro) | |
| X | g.154997027A>T | CA414919985 | F8 | c.334T>A (p.Ser112Thr) c.*120T>A (n.*120T>A) c.229T>A (p.Ser77Thr) c.316T>A (p.Ser106Thr) | |
| X | g.154997028A>C | CA519384129 | F8 | c.333T>G (p.Ala111=) c.*119T>G (n.*119T>G) c.228T>G (p.Ala76=) c.315T>G (p.Ala105=) | |
| X | g.154997028A>G | CA519384130 | F8 | c.333T>C (p.Ala111=) c.*119T>C (n.*119T>C) c.228T>C (p.Ala76=) c.315T>C (p.Ala105=) | gnomAD v4 |
| X | g.154997028A>T | CA519384131 | F8 | c.333T>A (p.Ala111=) c.*119T>A (n.*119T>A) c.228T>A (p.Ala76=) c.315T>A (p.Ala105=) | |
| X | g.154997029G>A | CA414919986 | F8 | c.332C>T (p.Ala111Val) c.*118C>T (n.*118C>T) c.227C>T (p.Ala76Val) c.314C>T (p.Ala105Val) | COSMIC COSMIC |