Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154966655A= | CA2466848161 | F8 | c.1042T= (p.Cys348=) c.*918T= (n.*918T=) c.937T= (p.Cys313=) | |
X | g.154966655A>C | CA414917199 | F8 | c.1042T>G (p.Cys348Gly) c.*918T>G (n.*918T>G) c.937T>G (p.Cys313Gly) | |
X | g.154966655A>G | CA337336620 | F8 | c.1042T>C (p.Cys348Arg) c.*918T>C (n.*918T>C) c.937T>C (p.Cys313Arg) | dbSNP |
X | g.154966655A>T | CA414917198 | F8 | c.1042T>A (p.Cys348Ser) c.*918T>A (n.*918T>A) c.937T>A (p.Cys313Ser) | |
X | g.154966656G>A | CA519365876 | F8 | c.1041C>T (p.Ser347=) c.*917C>T (n.*917C>T) c.936C>T (p.Ser312=) | |
X | g.154966656G>C | CA414917205 | F8 | c.1041C>G (p.Ser347Arg) c.*917C>G (n.*917C>G) c.936C>G (p.Ser312Arg) | |
X | g.154966656G>T | CA414917209 | F8 | c.1041C>A (p.Ser347Arg) c.*917C>A (n.*917C>A) c.936C>A (p.Ser312Arg) | |
X | g.154966657C>A | CA414917213 | F8 | c.1040G>T (p.Ser347Ile) c.*916G>T (n.*916G>T) c.935G>T (p.Ser312Ile) | gnomAD v4 |
X | g.154966657C= | CA2466848162 | F8 | c.1040G= (p.Ser347=) c.*916G= (n.*916G=) c.935G= (p.Ser312=) | |
X | g.154966657C>G | CA414917218 | F8 | c.1040G>C (p.Ser347Thr) c.*916G>C (n.*916G>C) c.935G>C (p.Ser312Thr) | |
X | g.154966657C>T | CA414917220 | F8 | c.1040G>A (p.Ser347Asn) c.*916G>A (n.*916G>A) c.935G>A (p.Ser312Asn) | dbSNP gnomAD v4 |
X | g.154966659_154966662del | CA2695237394 | F8 | c.1037_1040del (p.Asp346AlafsTer10) c.*913_*916del (n.*913_*916del) c.932_935del (p.Asp311AlafsTer10) | |
X | g.154966658T>A | CA414917226 | F8 | c.1039A>T (p.Ser347Cys) c.*915A>T (n.*915A>T) c.934A>T (p.Ser312Cys) | |
X | g.154966658T>C | CA414917227 | F8 | c.1039A>G (p.Ser347Gly) c.*915A>G (n.*915A>G) c.934A>G (p.Ser312Gly) | |
X | g.154966658T>G | CA414917229 | F8 | c.1039A>C (p.Ser347Arg) c.*915A>C (n.*915A>C) c.934A>C (p.Ser312Arg) | |
X | g.154966658_154966659delinsTG | CA2466848163 | F8 | c.1038_1039delinsCA (p.Asp346=) c.*914_*915delinsCA (n.*914_*915delinsCA) c.933_934delinsCA (p.Asp311=) | |
X | g.154966659del | CA873344792 | F8 | c.1038del (p.Asp346GlufsTer11) c.*914del (n.*914del) c.933del (p.Asp311GlufsTer11) | dbSNP |
X | g.154966659G>A | CA519365888 | F8 | c.1038C>T (p.Asp346=) c.*914C>T (n.*914C>T) c.933C>T (p.Asp311=) | |
X | g.154966659G>C | CA414917230 | F8 | c.1038C>G (p.Asp346Glu) c.*914C>G (n.*914C>G) c.933C>G (p.Asp311Glu) | |
X | g.154966659G>T | CA414917232 | F8 | c.1038C>A (p.Asp346Glu) c.*914C>A (n.*914C>A) c.933C>A (p.Asp311Glu) | |
X | g.154966660T>A | CA414917241 | F8 | c.1037A>T (p.Asp346Val) c.*913A>T (n.*913A>T) c.932A>T (p.Asp311Val) | |
X | g.154966660T>C | CA414917238 | F8 | c.1037A>G (p.Asp346Gly) c.*913A>G (n.*913A>G) c.932A>G (p.Asp311Gly) | gnomAD v4 |
X | g.154966660T>G | CA414917236 | F8 | c.1037A>C (p.Asp346Ala) c.*913A>C (n.*913A>C) c.932A>C (p.Asp311Ala) | |
X | g.154966661C>A | CA414917248 | F8 | c.1036G>T (p.Asp346Tyr) c.*912G>T (n.*912G>T) c.931G>T (p.Asp311Tyr) | |
X | g.154966661C>G | CA414917250 | F8 | c.1036G>C (p.Asp346His) c.*912G>C (n.*912G>C) c.931G>C (p.Asp311His) | |
X | g.154966661C>T | CA414917251 | F8 | c.1036G>A (p.Asp346Asn) c.*912G>A (n.*912G>A) c.931G>A (p.Asp311Asn) | |
X | g.154966662T>A | CA519365905 | F8 | c.1035A>T (p.Val345=) c.*911A>T (n.*911A>T) c.930A>T (p.Val310=) | |
X | g.154966662T>C | CA519365908 | F8 | c.1035A>G (p.Val345=) c.*911A>G (n.*911A>G) c.930A>G (p.Val310=) | |
X | g.154966662T>G | CA519365910 | F8 | c.1035A>C (p.Val345=) c.*911A>C (n.*911A>C) c.930A>C (p.Val310=) | |
X | g.154966663A= | CA2466848164 | F8 | c.1034T= (p.Val345=) c.*910T= (n.*910T=) c.929T= (p.Val310=) | |
X | g.154966663A>C | CA414917255 | F8 | c.1034T>G (p.Val345Gly) c.*910T>G (n.*910T>G) c.929T>G (p.Val310Gly) | |
X | g.154966663A>G | CA414917257 | F8 | c.1034T>C (p.Val345Ala) c.*910T>C (n.*910T>C) c.929T>C (p.Val310Ala) | ClinVar dbSNP |
X | g.154966663A>T | CA414917259 | F8 | c.1034T>A (p.Val345Glu) c.*910T>A (n.*910T>A) c.929T>A (p.Val310Glu) | |
X | g.154966664C>A | CA255036 | F8 | c.1033G>T (p.Val345Leu) c.*909G>T (n.*909G>T) c.928G>T (p.Val310Leu) | ClinVar dbSNP |
X | g.154966664C= | CA2466848165 | F8 | c.1033G= (p.Val345=) c.*909G= (n.*909G=) c.928G= (p.Val310=) | |
X | g.154966664C>G | CA337336646 | F8 | c.1033G>C (p.Val345Leu) c.*909G>C (n.*909G>C) c.928G>C (p.Val310Leu) | dbSNP |
X | g.154966664C>T | CA414917265 | F8 | c.1033G>A (p.Val345Ile) c.*909G>A (n.*909G>A) c.928G>A (p.Val310Ile) | |
X | g.154966665T>A | CA414917269 | F8 | c.1032A>T (p.Lys344Asn) c.*908A>T (n.*908A>T) c.927A>T (p.Lys309Asn) | |
X | g.154966665T>C | CA337336648 | F8 | c.1032A>G (p.Lys344=) c.*908A>G (n.*908A>G) c.927A>G (p.Lys309=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966665T>G | CA414917270 | F8 | c.1032A>C (p.Lys344Asn) c.*908A>C (n.*908A>C) c.927A>C (p.Lys309Asn) | |
X | g.154966665T= | CA2466848166 | F8 | c.1032A= (p.Lys344=) c.*908A= (n.*908A=) c.927A= (p.Lys309=) | |
X | g.154966666T>A | CA414917274 | F8 | c.1031A>T (p.Lys344Ile) c.*907A>T (n.*907A>T) c.926A>T (p.Lys309Ile) | |
X | g.154966666T>C | CA414917272 | F8 | c.1031A>G (p.Lys344Arg) c.*907A>G (n.*907A>G) c.926A>G (p.Lys309Arg) | |
X | g.154966666T>G | CA414917271 | F8 | c.1031A>C (p.Lys344Thr) c.*907A>C (n.*907A>C) c.926A>C (p.Lys309Thr) | |
X | g.154966667T>A | CA414917275 | F8 | c.1030A>T (p.Lys344Ter) c.*906A>T (n.*906A>T) c.925A>T (p.Lys309Ter) | |
X | g.154966667T>C | CA414917279 | F8 | c.1030A>G (p.Lys344Glu) c.*906A>G (n.*906A>G) c.925A>G (p.Lys309Glu) | |
X | g.154966667T>G | CA10568510 | F8 | c.1030A>C (p.Lys344Gln) c.*906A>C (n.*906A>C) c.925A>C (p.Lys309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966667T= | CA2466848167 | F8 | c.1030A= (p.Lys344=) c.*906A= (n.*906A=) c.925A= (p.Lys309=) | |
X | g.154966668_154966677del | CA2695237397 | F8 | c.1021_1030del (p.Ala341LysfsTer2) c.*897_*906del (n.*897_*906del) c.916_925del (p.Ala306LysfsTer2) | |
X | g.154966668G>A | CA519365942 | F8 | c.1029C>T (p.Val343=) c.*905C>T (n.*905C>T) c.924C>T (p.Val308=) | gnomAD v4 |