| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.42-486_1154-846del c.42-486_560-867del c.-272-219_1010-846del c.42-486_1277-846del c.123-486_1235-846del c.42-486_1133-846del c.42-486_1097-846del c.42-486_938-846del | ClinVar |
| 1 | g.173911379_173915115del | CA2573051422 | SERPINC1 | c.42-196_624+420del c.42-196_559+485del c.-201_480+420del c.123-196_705+420del c.42-196_409-488del | |
| 1 | g.173911749_173917428del | CA1139655524 | ClinVar | ||
| 1 | g.173912151_173919034dup | CA2580611212 | |||
| 1 | g.173912552_173914879del | CA2573051423 | SERPINC1 | c.84_409-536del n.310_635-536del c.-61_265-536del c.165_490-536del c.84_409-1659del | ClinVar |
| 1 | g.173914586_173914592del | CA645537737 | SERPINC1 | c.371_377del (p.Leu124ProfsTer9) n.76_82del n.597_603del c.227_233del (p.Leu76ProfsTer9) c.452_458del (p.Leu151ProfsTer9) | COSMIC |
| 1 | g.173914590A>C | CA343777317 | SERPINC1 | c.371T>G (p.Leu124Arg) n.76T>G n.597T>G c.227T>G (p.Leu76Arg) c.452T>G (p.Leu151Arg) | |
| 1 | g.173914590A>G | CA343777319 | SERPINC1 | c.371T>C (p.Leu124Pro) n.76T>C n.597T>C c.227T>C (p.Leu76Pro) c.452T>C (p.Leu151Pro) | |
| 1 | g.173914590A>T | CA343777321 | SERPINC1 | c.371T>A (p.Leu124Gln) n.76T>A n.597T>A c.227T>A (p.Leu76Gln) c.452T>A (p.Leu151Gln) | |
| 1 | g.173914591G>A | CA1251433 | SERPINC1 | c.370C>T (p.Leu124=) n.75C>T n.596C>T c.226C>T (p.Leu76=) c.451C>T (p.Leu151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914591G>C | CA343777324 | SERPINC1 | c.370C>G (p.Leu124Val) n.75C>G n.596C>G c.226C>G (p.Leu76Val) c.451C>G (p.Leu151Val) | |
| 1 | g.173914591G= | CA1207938925 | SERPINC1 | c.370C= (p.Leu124=) n.75C= n.596C= c.226C= (p.Leu76=) c.451C= (p.Leu151=) | |
| 1 | g.173914591G>T | CA343777325 | SERPINC1 | c.370C>A (p.Leu124Met) n.75C>A n.596C>A c.226C>A (p.Leu76Met) c.451C>A (p.Leu151Met) | |
| 1 | g.173914592C>A | CA343777327 | SERPINC1 | c.369G>T (p.Lys123Asn) n.74G>T n.595G>T c.225G>T (p.Lys75Asn) c.450G>T (p.Lys150Asn) | |
| 1 | g.173914592C= | CA1207938926 | SERPINC1 | c.369G= (p.Lys123=) n.74G= n.595G= c.225G= (p.Lys75=) c.450G= (p.Lys150=) | |
| 1 | g.173914592C>G | CA343777329 | SERPINC1 | c.369G>C (p.Lys123Asn) n.74G>C n.595G>C c.225G>C (p.Lys75Asn) c.450G>C (p.Lys150Asn) | dbSNP |
| 1 | g.173914592C>T | CA421823386 | SERPINC1 | c.369G>A (p.Lys123=) n.74G>A n.595G>A c.225G>A (p.Lys75=) c.450G>A (p.Lys150=) | |
| 1 | g.173914593T>A | CA343777331 | SERPINC1 | c.368A>T (p.Lys123Met) n.73A>T n.594A>T c.224A>T (p.Lys75Met) c.449A>T (p.Lys150Met) | |
| 1 | g.173914593T>C | CA343777334 | SERPINC1 | c.368A>G (p.Lys123Arg) n.73A>G n.594A>G c.224A>G (p.Lys75Arg) c.449A>G (p.Lys150Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914593T>G | CA343777332 | SERPINC1 | c.368A>C (p.Lys123Thr) n.73A>C n.594A>C c.224A>C (p.Lys75Thr) c.449A>C (p.Lys150Thr) | |
| 1 | g.173914593T= | CA1207938927 | SERPINC1 | c.368A= (p.Lys123=) n.73A= n.594A= c.224A= (p.Lys75=) c.449A= (p.Lys150=) | |
| 1 | g.173914594T>A | CA343777336 | SERPINC1 | c.367A>T (p.Lys123Ter) n.72A>T n.593A>T c.223A>T (p.Lys75Ter) c.448A>T (p.Lys150Ter) | |
| 1 | g.173914594T>C | CA343777338 | SERPINC1 | c.367A>G (p.Lys123Glu) n.72A>G n.593A>G c.223A>G (p.Lys75Glu) c.448A>G (p.Lys150Glu) | gnomAD v4 |
| 1 | g.173914594T>G | CA343777340 | SERPINC1 | c.367A>C (p.Lys123Gln) n.72A>C n.593A>C c.223A>C (p.Lys75Gln) c.448A>C (p.Lys150Gln) | |
| 1 | g.173914595G>A | CA421823387 | SERPINC1 | c.366C>T (p.Thr122=) n.71C>T n.592C>T c.222C>T (p.Thr74=) c.447C>T (p.Thr149=) | |
| 1 | g.173914595G>C | CA421823388 | SERPINC1 | c.366C>G (p.Thr122=) n.71C>G n.592C>G c.222C>G (p.Thr74=) c.447C>G (p.Thr149=) | ClinVar dbSNP |
| 1 | g.173914595G>T | CA421823389 | SERPINC1 | c.366C>A (p.Thr122=) n.71C>A n.592C>A c.222C>A (p.Thr74=) c.447C>A (p.Thr149=) | |
| 1 | g.173914596G>A | CA343777341 | SERPINC1 | c.365C>T (p.Thr122Ile) n.70C>T n.591C>T c.221C>T (p.Thr74Ile) c.446C>T (p.Thr149Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914596G>C | CA343777343 | SERPINC1 | c.365C>G (p.Thr122Ser) n.70C>G n.591C>G c.221C>G (p.Thr74Ser) c.446C>G (p.Thr149Ser) | gnomAD v4 |
| 1 | g.173914596G= | CA1207938928 | SERPINC1 | c.365C= (p.Thr122=) n.70C= n.591C= c.221C= (p.Thr74=) c.446C= (p.Thr149=) | |
| 1 | g.173914596G>T | CA343777345 | SERPINC1 | c.365C>A (p.Thr122Asn) n.70C>A n.591C>A c.221C>A (p.Thr74Asn) c.446C>A (p.Thr149Asn) | ClinVar dbSNP |
| 1 | g.173914597T>A | CA343777350 | SERPINC1 | c.364A>T (p.Thr122Ser) n.69A>T n.590A>T c.220A>T (p.Thr74Ser) c.445A>T (p.Thr149Ser) | |
| 1 | g.173914597T>C | CA343777349 | SERPINC1 | c.364A>G (p.Thr122Ala) n.69A>G n.590A>G c.220A>G (p.Thr74Ala) c.445A>G (p.Thr149Ala) | gnomAD v4 |
| 1 | g.173914597T>G | CA343777347 | SERPINC1 | c.364A>C (p.Thr122Pro) n.69A>C n.590A>C c.220A>C (p.Thr74Pro) c.445A>C (p.Thr149Pro) | |
| 1 | g.173914598C>A | CA343777352 | SERPINC1 | c.363G>T (p.Met121Ile) n.68G>T n.589G>T c.219G>T (p.Met73Ile) c.444G>T (p.Met148Ile) | gnomAD v4 |
| 1 | g.173914598C= | CA1143781347 | SERPINC1 | c.363G= (p.Met121=) n.68G= n.589G= c.219G= (p.Met73=) c.444G= (p.Met148=) | |
| 1 | g.173914598C>G | CA343777353 | SERPINC1 | c.363G>C (p.Met121Ile) n.68G>C n.589G>C c.219G>C (p.Met73Ile) c.444G>C (p.Met148Ile) | |
| 1 | g.173914598C>T | CA1251434 | SERPINC1 | c.363G>A (p.Met121Ile) n.68G>A n.589G>A c.219G>A (p.Met73Ile) c.444G>A (p.Met148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914599A>C | CA343777356 | SERPINC1 | c.362T>G (p.Met121Arg) n.67T>G n.588T>G c.218T>G (p.Met73Arg) c.443T>G (p.Met148Arg) | |
| 1 | g.173914599A>G | CA343777358 | SERPINC1 | c.362T>C (p.Met121Thr) n.67T>C n.588T>C c.218T>C (p.Met73Thr) c.443T>C (p.Met148Thr) | |
| 1 | g.173914599A>T | CA343777359 | SERPINC1 | c.362T>A (p.Met121Lys) n.67T>A n.588T>A c.218T>A (p.Met73Lys) c.443T>A (p.Met148Lys) | |
| 1 | g.173914600T>A | CA343777362 | SERPINC1 | c.361A>T (p.Met121Leu) n.66A>T n.587A>T c.217A>T (p.Met73Leu) c.442A>T (p.Met148Leu) | |
| 1 | g.173914600T>C | CA343777365 | SERPINC1 | c.361A>G (p.Met121Val) n.66A>G n.587A>G c.217A>G (p.Met73Val) c.442A>G (p.Met148Val) | |
| 1 | g.173914600T>G | CA343777363 | SERPINC1 | c.361A>C (p.Met121Leu) n.66A>C n.587A>C c.217A>C (p.Met73Leu) c.442A>C (p.Met148Leu) | |
| 1 | g.173914601A>C | CA421823396 | SERPINC1 | c.360T>G (p.Ala120=) n.65T>G n.586T>G c.216T>G (p.Ala72=) c.441T>G (p.Ala147=) | |
| 1 | g.173914601A>G | CA421823397 | SERPINC1 | c.360T>C (p.Ala120=) n.65T>C n.586T>C c.216T>C (p.Ala72=) c.441T>C (p.Ala147=) | |
| 1 | g.173914601A>T | CA421823398 | SERPINC1 | c.360T>A (p.Ala120=) n.65T>A n.586T>A c.216T>A (p.Ala72=) c.441T>A (p.Ala147=) | |
| 1 | g.173914602G>A | CA343777367 | SERPINC1 | c.359C>T (p.Ala120Val) n.64C>T n.585C>T c.215C>T (p.Ala72Val) c.440C>T (p.Ala147Val) | |
| 1 | g.173914602G>C | CA343777369 | SERPINC1 | c.359C>G (p.Ala120Gly) n.64C>G n.585C>G c.215C>G (p.Ala72Gly) c.440C>G (p.Ala147Gly) | |
| 1 | g.173914602G>T | CA343777371 | SERPINC1 | c.359C>A (p.Ala120Asp) n.64C>A n.585C>A c.215C>A (p.Ala72Asp) c.440C>A (p.Ala147Asp) | |
| 1 | g.173914603C>A | CA343777372 | SERPINC1 | c.358G>T (p.Ala120Ser) n.63G>T n.584G>T c.214G>T (p.Ala72Ser) c.439G>T (p.Ala147Ser) | gnomAD v4 |
| 1 | g.173914603C>G | CA343777374 | SERPINC1 | c.358G>C (p.Ala120Pro) n.63G>C n.584G>C c.214G>C (p.Ala72Pro) c.439G>C (p.Ala147Pro) | |
| 1 | g.173914603C>T | CA343777376 | SERPINC1 | c.358G>A (p.Ala120Thr) n.63G>A n.584G>A c.214G>A (p.Ala72Thr) c.439G>A (p.Ala147Thr) | |
| 1 | g.173914604A>C | CA343777377 | SERPINC1 | c.357T>G (p.Phe119Leu) n.62T>G n.583T>G c.213T>G (p.Phe71Leu) c.438T>G (p.Phe146Leu) | |
| 1 | g.173914604A>G | CA421823399 | SERPINC1 | c.357T>C (p.Phe119=) n.62T>C n.583T>C c.213T>C (p.Phe71=) c.438T>C (p.Phe146=) | |
| 1 | g.173914604A>T | CA343777379 | SERPINC1 | c.357T>A (p.Phe119Leu) n.62T>A n.583T>A c.213T>A (p.Phe71Leu) c.438T>A (p.Phe146Leu) | |
| 1 | g.173914607del | CA2586964435 | SERPINC1 | c.357del (p.Phe119LeufsTer3) n.62del n.583del c.213del (p.Phe71LeufsTer3) c.438del (p.Phe146LeufsTer3) | |
| 1 | g.173914605A>C | CA343777381 | SERPINC1 | c.356T>G (p.Phe119Cys) n.61T>G n.582T>G c.212T>G (p.Phe71Cys) c.437T>G (p.Phe146Cys) | |
| 1 | g.173914605A>G | CA343777383 | SERPINC1 | c.356T>C (p.Phe119Ser) n.61T>C n.582T>C c.212T>C (p.Phe71Ser) c.437T>C (p.Phe146Ser) | |
| 1 | g.173914605A>T | CA343777384 | SERPINC1 | c.356T>A (p.Phe119Tyr) n.61T>A n.582T>A c.212T>A (p.Phe71Tyr) c.437T>A (p.Phe146Tyr) | |
| 1 | g.173914606A>C | CA343777386 | SERPINC1 | c.355T>G (p.Phe119Val) n.60T>G n.581T>G c.211T>G (p.Phe71Val) c.436T>G (p.Phe146Val) | |
| 1 | g.173914606A>G | CA343777389 | SERPINC1 | c.355T>C (p.Phe119Leu) n.60T>C n.581T>C c.211T>C (p.Phe71Leu) c.436T>C (p.Phe146Leu) | |
| 1 | g.173914606A>T | CA343777388 | SERPINC1 | c.355T>A (p.Phe119Ile) n.60T>A n.581T>A c.211T>A (p.Phe71Ile) c.436T>A (p.Phe146Ile) | |
| 1 | g.173914607A>C | CA421823401 | SERPINC1 | c.354T>G (p.Ala118=) n.59T>G n.580T>G c.210T>G (p.Ala70=) c.435T>G (p.Ala145=) | |
| 1 | g.173914607A>G | CA421823403 | SERPINC1 | c.354T>C (p.Ala118=) n.59T>C n.580T>C c.210T>C (p.Ala70=) c.435T>C (p.Ala145=) | dbSNP |
| 1 | g.173914607A>T | CA421823402 | SERPINC1 | c.354T>A (p.Ala118=) n.59T>A n.580T>A c.210T>A (p.Ala70=) c.435T>A (p.Ala145=) | |
| 1 | g.173914608G>A | CA343777390 | SERPINC1 | c.353C>T (p.Ala118Val) n.58C>T n.579C>T c.209C>T (p.Ala70Val) c.434C>T (p.Ala145Val) | |
| 1 | g.173914608G>C | CA343777392 | SERPINC1 | c.353C>G (p.Ala118Gly) n.58C>G n.579C>G c.209C>G (p.Ala70Gly) c.434C>G (p.Ala145Gly) | |
| 1 | g.173914608G>T | CA343777394 | SERPINC1 | c.353C>A (p.Ala118Asp) n.58C>A n.579C>A c.209C>A (p.Ala70Asp) c.434C>A (p.Ala145Asp) | |
| 1 | g.173914609C>A | CA343777395 | SERPINC1 | c.352G>T (p.Ala118Ser) n.57G>T n.578G>T c.208G>T (p.Ala70Ser) c.433G>T (p.Ala145Ser) | |
| 1 | g.173914609C>G | CA343777397 | SERPINC1 | c.352G>C (p.Ala118Pro) n.57G>C n.578G>C c.208G>C (p.Ala70Pro) c.433G>C (p.Ala145Pro) | |
| 1 | g.173914609C>T | CA343777399 | SERPINC1 | c.352G>A (p.Ala118Thr) n.57G>A n.578G>A c.208G>A (p.Ala70Thr) c.433G>A (p.Ala145Thr) | COSMIC |
| 1 | g.173914610C>A | CA421823409 | SERPINC1 | c.351G>T (p.Thr117=) n.56G>T n.577G>T c.207G>T (p.Thr69=) c.432G>T (p.Thr144=) | dbSNP |
| 1 | g.173914610C= | CA1143442035 | SERPINC1 | c.351G= (p.Thr117=) n.56G= n.577G= c.207G= (p.Thr69=) c.432G= (p.Thr144=) | |
| 1 | g.173914610C>G | CA421823408 | SERPINC1 | c.351G>C (p.Thr117=) n.56G>C n.577G>C c.207G>C (p.Thr69=) c.432G>C (p.Thr144=) | |
| 1 | g.173914610C>T | CA1251435 | SERPINC1 | c.351G>A (p.Thr117=) n.56G>A n.577G>A c.207G>A (p.Thr69=) c.432G>A (p.Thr144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914611G>A | CA1251436 | SERPINC1 | c.350C>T (p.Thr117Met) n.55C>T n.576C>T c.206C>T (p.Thr69Met) c.431C>T (p.Thr144Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914611G>C | CA343777402 | SERPINC1 | c.350C>G (p.Thr117Arg) n.55C>G n.576C>G c.206C>G (p.Thr69Arg) c.431C>G (p.Thr144Arg) | |
| 1 | g.173914611G= | CA1141677786 | SERPINC1 | c.350C= (p.Thr117=) n.55C= n.576C= c.206C= (p.Thr69=) c.431C= (p.Thr144=) | |
| 1 | g.173914611G>T | CA343777404 | SERPINC1 | c.350C>A (p.Thr117Lys) n.55C>A n.576C>A c.206C>A (p.Thr69Lys) c.431C>A (p.Thr144Lys) | |
| 1 | g.173914612T>A | CA343777406 | SERPINC1 | c.349A>T (p.Thr117Ser) n.54A>T n.575A>T c.205A>T (p.Thr69Ser) c.430A>T (p.Thr144Ser) | |
| 1 | g.173914612T>C | CA343777408 | SERPINC1 | c.349A>G (p.Thr117Ala) n.54A>G n.575A>G c.205A>G (p.Thr69Ala) c.430A>G (p.Thr144Ala) | |
| 1 | g.173914612T>G | CA343777410 | SERPINC1 | c.349A>C (p.Thr117Pro) n.54A>C n.575A>C c.205A>C (p.Thr69Pro) c.430A>C (p.Thr144Pro) | gnomAD v4 |
| 1 | g.173914613G>A | CA421823413 | SERPINC1 | c.348C>T (p.Ser116=) n.53C>T n.574C>T c.204C>T (p.Ser68=) c.429C>T (p.Ser143=) | |
| 1 | g.173914613G>C | CA421823415 | SERPINC1 | c.348C>G (p.Ser116=) n.53C>G n.574C>G c.204C>G (p.Ser68=) c.429C>G (p.Ser143=) | |
| 1 | g.173914613G>T | CA421823414 | SERPINC1 | c.348C>A (p.Ser116=) n.53C>A n.574C>A c.204C>A (p.Ser68=) c.429C>A (p.Ser143=) | |
| 1 | g.173914614G>A | CA343777412 | SERPINC1 | c.347C>T (p.Ser116Phe) n.52C>T n.573C>T c.203C>T (p.Ser68Phe) c.428C>T (p.Ser143Phe) | gnomAD v4 |
| 1 | g.173914614G>C | CA343777415 | SERPINC1 | c.347C>G (p.Ser116Cys) n.52C>G n.573C>G c.203C>G (p.Ser68Cys) c.428C>G (p.Ser143Cys) | |
| 1 | g.173914614G>T | CA343777414 | SERPINC1 | c.347C>A (p.Ser116Tyr) n.52C>A n.573C>A c.203C>A (p.Ser68Tyr) c.428C>A (p.Ser143Tyr) | |
| 1 | g.173914615A>C | CA343777417 | SERPINC1 | c.346T>G (p.Ser116Ala) n.51T>G n.572T>G c.202T>G (p.Ser68Ala) c.427T>G (p.Ser143Ala) | |
| 1 | g.173914615A>G | CA343777419 | SERPINC1 | c.346T>C (p.Ser116Pro) n.51T>C n.572T>C c.202T>C (p.Ser68Pro) c.427T>C (p.Ser143Pro) | |
| 1 | g.173914615A>T | CA343777420 | SERPINC1 | c.346T>A (p.Ser116Thr) n.51T>A n.572T>A c.202T>A (p.Ser68Thr) c.427T>A (p.Ser143Thr) | |
| 1 | g.173914616G>A | CA1251437 | SERPINC1 | c.345C>T (p.Ile115=) n.50C>T n.571C>T c.201C>T (p.Ile67=) c.426C>T (p.Ile142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914616G>C | CA343777422 | SERPINC1 | c.345C>G (p.Ile115Met) n.50C>G n.571C>G c.201C>G (p.Ile67Met) c.426C>G (p.Ile142Met) | |
| 1 | g.173914616G= | CA1144015831 | SERPINC1 | c.345C= (p.Ile115=) n.50C= n.571C= c.201C= (p.Ile67=) c.426C= (p.Ile142=) | |
| 1 | g.173914616G>T | CA421823417 | SERPINC1 | c.345C>A (p.Ile115=) n.50C>A n.571C>A c.201C>A (p.Ile67=) c.426C>A (p.Ile142=) | |
| 1 | g.173914617A>C | CA343777424 | SERPINC1 | c.344T>G (p.Ile115Ser) n.49T>G n.570T>G c.200T>G (p.Ile67Ser) c.425T>G (p.Ile142Ser) | |
| 1 | g.173914617A>G | CA343777426 | SERPINC1 | c.344T>C (p.Ile115Thr) n.49T>C n.570T>C c.200T>C (p.Ile67Thr) c.425T>C (p.Ile142Thr) | |
| 1 | g.173914617A>T | CA343777428 | SERPINC1 | c.344T>A (p.Ile115Asn) n.49T>A n.570T>A c.200T>A (p.Ile67Asn) c.425T>A (p.Ile142Asn) | |
| 1 | g.173914618T>A | CA343777430 | SERPINC1 | c.343A>T (p.Ile115Phe) n.48A>T n.569A>T c.199A>T (p.Ile67Phe) c.424A>T (p.Ile142Phe) | |
| 1 | g.173914618T>C | CA343777431 | SERPINC1 | c.343A>G (p.Ile115Val) n.48A>G n.569A>G c.199A>G (p.Ile67Val) c.424A>G (p.Ile142Val) | |
| 1 | g.173914618T>G | CA343777432 | SERPINC1 | c.343A>C (p.Ile115Leu) n.48A>C n.569A>C c.199A>C (p.Ile67Leu) c.424A>C (p.Ile142Leu) | |
| 1 | g.173914619A= | CA1143698391 | SERPINC1 | c.342T= (p.Ser114=) n.47T= n.568T= c.198T= (p.Ser66=) c.423T= (p.Ser141=) | |
| 1 | g.173914619A>C | CA343777436 | SERPINC1 | c.342T>G (p.Ser114Arg) n.47T>G n.568T>G c.198T>G (p.Ser66Arg) c.423T>G (p.Ser141Arg) | |
| 1 | g.173914619A>G | CA1251438 | SERPINC1 | c.342T>C (p.Ser114=) n.47T>C n.568T>C c.198T>C (p.Ser66=) c.423T>C (p.Ser141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914619A>T | CA343777434 | SERPINC1 | c.342T>A (p.Ser114Arg) n.47T>A n.568T>A c.198T>A (p.Ser66Arg) c.423T>A (p.Ser141Arg) | |
| 1 | g.173914620C>A | CA343777440 | SERPINC1 | c.341G>T (p.Ser114Ile) n.46G>T n.567G>T c.197G>T (p.Ser66Ile) c.422G>T (p.Ser141Ile) | gnomAD v4 |
| 1 | g.173914620C= | CA1207938929 | SERPINC1 | c.341G= (p.Ser114=) n.46G= n.567G= c.197G= (p.Ser66=) c.422G= (p.Ser141=) | |
| 1 | g.173914620C>G | CA343777439 | SERPINC1 | c.341G>C (p.Ser114Thr) n.46G>C n.567G>C c.197G>C (p.Ser66Thr) c.422G>C (p.Ser141Thr) | |
| 1 | g.173914620C>T | CA343777442 | SERPINC1 | c.341G>A (p.Ser114Asn) n.46G>A n.567G>A c.197G>A (p.Ser66Asn) c.422G>A (p.Ser141Asn) | ClinVar dbSNP |
| 1 | g.173914621T>A | CA343777444 | SERPINC1 | c.340A>T (p.Ser114Cys) n.45A>T n.566A>T c.196A>T (p.Ser66Cys) c.421A>T (p.Ser141Cys) | |
| 1 | g.173914621T>C | CA343777447 | SERPINC1 | c.340A>G (p.Ser114Gly) n.45A>G n.566A>G c.196A>G (p.Ser66Gly) c.421A>G (p.Ser141Gly) | |
| 1 | g.173914621T>G | CA343777445 | SERPINC1 | c.340A>C (p.Ser114Arg) n.45A>C n.566A>C c.196A>C (p.Ser66Arg) c.421A>C (p.Ser141Arg) | |
| 1 | g.173914622C>A | CA421823422 | SERPINC1 | c.339G>T (p.Leu113=) n.44G>T n.565G>T c.195G>T (p.Leu65=) c.420G>T (p.Leu140=) | |
| 1 | g.173914622C>G | CA421823423 | SERPINC1 | c.339G>C (p.Leu113=) n.44G>C n.565G>C c.195G>C (p.Leu65=) c.420G>C (p.Leu140=) | |
| 1 | g.173914622C>T | CA421823424 | SERPINC1 | c.339G>A (p.Leu113=) n.44G>A n.565G>A c.195G>A (p.Leu65=) c.420G>A (p.Leu140=) | |
| 1 | g.173914623del | CA2582342976 | SERPINC1 | c.338del (p.Leu113ArgfsTer9) n.43del n.564del c.194del (p.Leu65ArgfsTer9) c.419del (p.Leu140ArgfsTer9) | |
| 1 | g.173914623A>C | CA343777449 | SERPINC1 | c.338T>G (p.Leu113Arg) n.43T>G n.564T>G c.194T>G (p.Leu65Arg) c.419T>G (p.Leu140Arg) | |
| 1 | g.173914623A>G | CA343777450 | SERPINC1 | c.338T>C (p.Leu113Pro) n.43T>C n.564T>C c.194T>C (p.Leu65Pro) c.419T>C (p.Leu140Pro) | |
| 1 | g.173914623A>T | CA343777452 | SERPINC1 | c.338T>A (p.Leu113Gln) n.43T>A n.564T>A c.194T>A (p.Leu65Gln) c.419T>A (p.Leu140Gln) | |
| 1 | g.173914623_173914624del | CA2579753979 | SERPINC1 | c.337_338del (p.Leu113GlufsTer15) n.42_43del n.563_564del c.193_194del (p.Leu65GlufsTer15) c.418_419del (p.Leu140GlufsTer15) | |
| 1 | g.173914624G>A | CA421823428 | SERPINC1 | c.337C>T (p.Leu113=) n.42C>T n.563C>T c.193C>T (p.Leu65=) c.418C>T (p.Leu140=) | ClinVar dbSNP |
| 1 | g.173914624G>C | CA343777454 | SERPINC1 | c.337C>G (p.Leu113Val) n.42C>G n.563C>G c.193C>G (p.Leu65Val) c.418C>G (p.Leu140Val) | |
| 1 | g.173914624G= | CA1207938930 | SERPINC1 | c.337C= (p.Leu113=) n.42C= n.563C= c.193C= (p.Leu65=) c.418C= (p.Leu140=) | |
| 1 | g.173914624G>T | CA343777456 | SERPINC1 | c.337C>A (p.Leu113Met) n.42C>A n.563C>A c.193C>A (p.Leu65Met) c.418C>A (p.Leu140Met) | |
| 1 | g.173914627del | CA2586964436 | SERPINC1 | c.337del (p.Leu113Ter) n.42del n.563del c.193del (p.Leu65Ter) c.418del (p.Leu140Ter) | |
| 1 | g.173914625G>A | CA421942937 | SERPINC1 | c.336C>T (p.Pro112=) n.41C>T n.562C>T c.192C>T (p.Pro64=) c.417C>T (p.Pro139=) | gnomAD v4 |
| 1 | g.173914625G>C | CA421942939 | SERPINC1 | c.336C>G (p.Pro112=) n.41C>G n.562C>G c.192C>G (p.Pro64=) c.417C>G (p.Pro139=) | |
| 1 | g.173914625G>T | CA421942940 | SERPINC1 | c.336C>A (p.Pro112=) n.41C>A n.562C>A c.192C>A (p.Pro64=) c.417C>A (p.Pro139=) | gnomAD v4 |
| 1 | g.173914626G>A | CA343777458 | SERPINC1 | c.335C>T (p.Pro112Leu) n.40C>T n.561C>T c.191C>T (p.Pro64Leu) c.416C>T (p.Pro139Leu) | |
| 1 | g.173914626G>C | CA343777459 | SERPINC1 | c.335C>G (p.Pro112Arg) n.40C>G n.561C>G c.191C>G (p.Pro64Arg) c.416C>G (p.Pro139Arg) | |
| 1 | g.173914626G>T | CA343777460 | SERPINC1 | c.335C>A (p.Pro112His) n.40C>A n.561C>A c.191C>A (p.Pro64His) c.416C>A (p.Pro139His) | |
| 1 | g.173914627G>A | CA343777462 | SERPINC1 | c.334C>T (p.Pro112Ser) n.39C>T n.560C>T c.190C>T (p.Pro64Ser) c.415C>T (p.Pro139Ser) | |
| 1 | g.173914627G>C | CA343777464 | SERPINC1 | c.334C>G (p.Pro112Ala) n.39C>G n.560C>G c.190C>G (p.Pro64Ala) c.415C>G (p.Pro139Ala) | |
| 1 | g.173914627G>T | CA343777466 | SERPINC1 | c.334C>A (p.Pro112Thr) n.39C>A n.560C>A c.190C>A (p.Pro64Thr) c.415C>A (p.Pro139Thr) | gnomAD v4 |
| 1 | g.173914628T>A | CA421942946 | SERPINC1 | c.333A>T (p.Ser111=) n.38A>T n.559A>T c.189A>T (p.Ser63=) c.414A>T (p.Ser138=) | |
| 1 | g.173914628T>C | CA421942948 | SERPINC1 | c.333A>G (p.Ser111=) n.38A>G n.559A>G c.189A>G (p.Ser63=) c.414A>G (p.Ser138=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914628T>G | CA421942947 | SERPINC1 | c.333A>C (p.Ser111=) n.38A>C n.559A>C c.189A>C (p.Ser63=) c.414A>C (p.Ser138=) | |
| 1 | g.173914629G>A | CA343777471 | SERPINC1 | c.332C>T (p.Ser111Leu) n.37C>T n.558C>T c.188C>T (p.Ser63Leu) c.413C>T (p.Ser138Leu) | |
| 1 | g.173914629G>C | CA343777468 | SERPINC1 | c.332C>G (p.Ser111Ter) n.37C>G n.558C>G c.188C>G (p.Ser63Ter) c.413C>G (p.Ser138Ter) | |
| 1 | g.173914629G>T | CA343777469 | SERPINC1 | c.332C>A (p.Ser111Ter) n.37C>A n.558C>A c.188C>A (p.Ser63Ter) c.413C>A (p.Ser138Ter) | |
| 1 | g.173914630A>C | CA343777472 | SERPINC1 | c.331T>G (p.Ser111Ala) n.36T>G n.557T>G c.187T>G (p.Ser63Ala) c.412T>G (p.Ser138Ala) | |
| 1 | g.173914630A>G | CA343777474 | SERPINC1 | c.331T>C (p.Ser111Pro) n.36T>C n.557T>C c.187T>C (p.Ser63Pro) c.412T>C (p.Ser138Pro) | ClinVar |
| 1 | g.173914630A>T | CA343777475 | SERPINC1 | c.331T>A (p.Ser111Thr) n.36T>A n.557T>A c.187T>A (p.Ser63Thr) c.412T>A (p.Ser138Thr) | |
| 1 | g.173914631C>A | CA421942952 | SERPINC1 | c.330G>T (p.Leu110=) n.35G>T n.556G>T c.186G>T (p.Leu62=) c.411G>T (p.Leu137=) | |
| 1 | g.173914631C= | CA1207938931 | SERPINC1 | c.330G= (p.Leu110=) n.35G= n.556G= c.186G= (p.Leu62=) c.411G= (p.Leu137=) | |
| 1 | g.173914631C>G | CA421942954 | SERPINC1 | c.330G>C (p.Leu110=) n.35G>C n.556G>C c.186G>C (p.Leu62=) c.411G>C (p.Leu137=) | dbSNP gnomAD v4 |
| 1 | g.173914631C>T | CA421942955 | SERPINC1 | c.330G>A (p.Leu110=) n.35G>A n.556G>A c.186G>A (p.Leu62=) c.411G>A (p.Leu137=) | |
| 1 | g.173914632A>C | CA343777478 | SERPINC1 | c.329T>G (p.Leu110Arg) n.34T>G n.555T>G c.185T>G (p.Leu62Arg) c.410T>G (p.Leu137Arg) | |
| 1 | g.173914632A>G | CA343777479 | SERPINC1 | c.329T>C (p.Leu110Pro) n.34T>C n.555T>C c.185T>C (p.Leu62Pro) c.410T>C (p.Leu137Pro) | |
| 1 | g.173914632A>T | CA343777481 | SERPINC1 | c.329T>A (p.Leu110Gln) n.34T>A n.555T>A c.185T>A (p.Leu62Gln) c.410T>A (p.Leu137Gln) | |
| 1 | g.173914633G>A | CA421942957 | SERPINC1 | c.328C>T (p.Leu110=) n.33C>T n.554C>T c.184C>T (p.Leu62=) c.409C>T (p.Leu137=) | gnomAD v4 |
| 1 | g.173914633G>C | CA343777483 | SERPINC1 | c.328C>G (p.Leu110Val) n.33C>G n.554C>G c.184C>G (p.Leu62Val) c.409C>G (p.Leu137Val) | |
| 1 | g.173914633G= | CA1207938933 | SERPINC1 | c.328C= (p.Leu110=) n.33C= n.554C= c.184C= (p.Leu62=) c.409C= (p.Leu137=) | |
| 1 | g.173914633G>T | CA343777485 | SERPINC1 | c.328C>A (p.Leu110Met) n.33C>A n.554C>A c.184C>A (p.Leu62Met) c.409C>A (p.Leu137Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914633_173914639delinsGGAAAAT | CA1207938932 | SERPINC1 | c.322_328delinsATTTTCC (p.Ile108=) n.27_33delinsATTTTCC n.548_554delinsATTTTCC c.178_184delinsATTTTCC (p.Ile60=) c.403_409delinsATTTTCC (p.Ile135=) | |
| 1 | g.173914634G>A | CA421942958 | SERPINC1 | c.327C>T (p.Phe109=) n.32C>T n.553C>T c.183C>T (p.Phe61=) c.408C>T (p.Phe136=) | |
| 1 | g.173914634G>C | CA343777486 | SERPINC1 | c.327C>G (p.Phe109Leu) n.32C>G n.553C>G c.183C>G (p.Phe61Leu) c.408C>G (p.Phe136Leu) | |
| 1 | g.173914634G>T | CA343777488 | SERPINC1 | c.327C>A (p.Phe109Leu) n.32C>A n.553C>A c.183C>A (p.Phe61Leu) c.408C>A (p.Phe136Leu) | |
| 1 | g.173914635_173914640del | CA915943677 | SERPINC1 | c.322_327del (p.Ile108_Phe109del) n.27_32del n.548_553del c.178_183del (p.Ile60_Phe61del) c.403_408del (p.Ile135_Phe136del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914635A>C | CA343777492 | SERPINC1 | c.326T>G (p.Phe109Cys) n.31T>G n.552T>G c.182T>G (p.Phe61Cys) c.407T>G (p.Phe136Cys) | |
| 1 | g.173914635A>G | CA343777493 | SERPINC1 | c.326T>C (p.Phe109Ser) n.31T>C n.552T>C c.182T>C (p.Phe61Ser) c.407T>C (p.Phe136Ser) | |
| 1 | g.173914635A>T | CA343777490 | SERPINC1 | c.326T>A (p.Phe109Tyr) n.31T>A n.552T>A c.182T>A (p.Phe61Tyr) c.407T>A (p.Phe136Tyr) | |
| 1 | g.173914636A>C | CA343777495 | SERPINC1 | c.325T>G (p.Phe109Val) n.30T>G n.551T>G c.181T>G (p.Phe61Val) c.406T>G (p.Phe136Val) | |
| 1 | g.173914636A>G | CA343777497 | SERPINC1 | c.325T>C (p.Phe109Leu) n.30T>C n.551T>C c.181T>C (p.Phe61Leu) c.406T>C (p.Phe136Leu) | |
| 1 | g.173914636A>T | CA343777498 | SERPINC1 | c.325T>A (p.Phe109Ile) n.30T>A n.551T>A c.181T>A (p.Phe61Ile) c.406T>A (p.Phe136Ile) | |
| 1 | g.173914637A= | CA1207938934 | SERPINC1 | c.324T= (p.Ile108=) n.29T= n.550T= c.180T= (p.Ile60=) c.405T= (p.Ile135=) | |
| 1 | g.173914637A>C | CA343777500 | SERPINC1 | c.324T>G (p.Ile108Met) n.29T>G n.550T>G c.180T>G (p.Ile60Met) c.405T>G (p.Ile135Met) | |
| 1 | g.173914637A>G | CA421942961 | SERPINC1 | c.324T>C (p.Ile108=) n.29T>C n.550T>C c.180T>C (p.Ile60=) c.405T>C (p.Ile135=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914637A>T | CA421942962 | SERPINC1 | c.324T>A (p.Ile108=) n.29T>A n.550T>A c.180T>A (p.Ile60=) c.405T>A (p.Ile135=) | |
| 1 | g.173914638A>C | CA343777502 | SERPINC1 | c.323T>G (p.Ile108Ser) n.28T>G n.549T>G c.179T>G (p.Ile60Ser) c.404T>G (p.Ile135Ser) | |
| 1 | g.173914638A>G | CA343777504 | SERPINC1 | c.323T>C (p.Ile108Thr) n.28T>C n.549T>C c.179T>C (p.Ile60Thr) c.404T>C (p.Ile135Thr) | |
| 1 | g.173914638A>T | CA343777505 | SERPINC1 | c.323T>A (p.Ile108Asn) n.28T>A n.549T>A c.179T>A (p.Ile60Asn) c.404T>A (p.Ile135Asn) | |
| 1 | g.173914639T>A | CA343777507 | SERPINC1 | c.322A>T (p.Ile108Phe) n.27A>T n.548A>T c.178A>T (p.Ile60Phe) c.403A>T (p.Ile135Phe) | |
| 1 | g.173914639T>C | CA32782213 | SERPINC1 | c.322A>G (p.Ile108Val) n.27A>G n.548A>G c.178A>G (p.Ile60Val) c.403A>G (p.Ile135Val) | dbSNP |
| 1 | g.173914639T>G | CA343777510 | SERPINC1 | c.322A>C (p.Ile108Leu) n.27A>C n.548A>C c.178A>C (p.Ile60Leu) c.403A>C (p.Ile135Leu) | |
| 1 | g.173914639T= | CA1207938935 | SERPINC1 | c.322A= (p.Ile108=) n.27A= n.548A= c.178A= (p.Ile60=) c.403A= (p.Ile135=) | |
| 1 | g.173914640_173922032del | CA2573051424 | ClinVar | ||
| 1 | g.173914640G>A | CA421942966 | SERPINC1 | c.321C>T (p.Asn107=) n.26C>T n.547C>T c.177C>T (p.Asn59=) c.402C>T (p.Asn134=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914640G>C | CA343777511 | SERPINC1 | c.321C>G (p.Asn107Lys) n.26C>G n.547C>G c.177C>G (p.Asn59Lys) c.402C>G (p.Asn134Lys) | |
| 1 | g.173914640G= | CA1207938936 | SERPINC1 | c.321C= (p.Asn107=) n.26C= n.547C= c.177C= (p.Asn59=) c.402C= (p.Asn134=) | |
| 1 | g.173914640G>T | CA343777513 | SERPINC1 | c.321C>A (p.Asn107Lys) n.26C>A n.547C>A c.177C>A (p.Asn59Lys) c.402C>A (p.Asn134Lys) | |
| 1 | g.173914641T>A | CA343777518 | SERPINC1 | c.320A>T (p.Asn107Ile) n.25A>T n.546A>T c.176A>T (p.Asn59Ile) c.401A>T (p.Asn134Ile) | |
| 1 | g.173914641T>C | CA343777515 | SERPINC1 | c.320A>G (p.Asn107Ser) n.25A>G n.546A>G c.176A>G (p.Asn59Ser) c.401A>G (p.Asn134Ser) | |
| 1 | g.173914641T>G | CA343777516 | SERPINC1 | c.320A>C (p.Asn107Thr) n.25A>C n.546A>C c.176A>C (p.Asn59Thr) c.401A>C (p.Asn134Thr) | |
| 1 | g.173914642T>A | CA343777520 | SERPINC1 | c.319A>T (p.Asn107Tyr) n.24A>T n.545A>T c.175A>T (p.Asn59Tyr) c.400A>T (p.Asn134Tyr) | |
| 1 | g.173914642T>C | CA343777522 | SERPINC1 | c.319A>G (p.Asn107Asp) n.24A>G n.545A>G c.175A>G (p.Asn59Asp) c.400A>G (p.Asn134Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914642T>G | CA343777523 | SERPINC1 | c.319A>C (p.Asn107His) n.24A>C n.545A>C c.175A>C (p.Asn59His) c.400A>C (p.Asn134His) | |
| 1 | g.173914642T= | CA1207938937 | SERPINC1 | c.319A= (p.Asn107=) n.24A= n.545A= c.175A= (p.Asn59=) c.400A= (p.Asn134=) | |
| 1 | g.173914643del | CA915940647 | SERPINC1 | c.318del (p.Asp106GlufsTer8) n.23del n.544del c.174del (p.Asp58GlufsTer8) c.399del (p.Asp133GlufsTer8) | |
| 1 | g.173914643A= | CA1207938938 | SERPINC1 | c.318T= (p.Asp106=) n.23T= n.544T= c.174T= (p.Asp58=) c.399T= (p.Asp133=) | |
| 1 | g.173914643A>C | CA343777525 | SERPINC1 | c.318T>G (p.Asp106Glu) n.23T>G n.544T>G c.174T>G (p.Asp58Glu) c.399T>G (p.Asp133Glu) | |
| 1 | g.173914643A>G | CA421942969 | SERPINC1 | c.318T>C (p.Asp106=) n.23T>C n.544T>C c.174T>C (p.Asp58=) c.399T>C (p.Asp133=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914643A>T | CA343777527 | SERPINC1 | c.318T>A (p.Asp106Glu) n.23T>A n.544T>A c.174T>A (p.Asp58Glu) c.399T>A (p.Asp133Glu) | |
| 1 | g.173914643dup | CA2579925063 | SERPINC1 | c.318dup (p.Asn107Ter) n.23dup n.544dup c.174dup (p.Asn59Ter) c.399dup (p.Asn134Ter) | |
| 1 | g.173914645_173914647del | CA2573954057 | SERPINC1 | c.316_318del (p.Asp106del) n.21_23del n.542_544del c.172_174del (p.Asp58del) c.397_399del (p.Asp133del) | |
| 1 | g.173914643_173914695del | CA2586963972 | SERPINC1 | c.266_318del (p.Arg89GlnfsTer22) n.492_544del c.122_174del (p.Arg41GlnfsTer22) c.347_399del (p.Arg116GlnfsTer22) | ClinVar |
| 1 | g.173914644T>A | CA343777529 | SERPINC1 | c.317A>T (p.Asp106Val) n.22A>T n.543A>T c.173A>T (p.Asp58Val) c.398A>T (p.Asp133Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914644T>C | CA343777530 | SERPINC1 | c.317A>G (p.Asp106Gly) n.22A>G n.543A>G c.173A>G (p.Asp58Gly) c.398A>G (p.Asp133Gly) | |
| 1 | g.173914644T>G | CA343777532 | SERPINC1 | c.317A>C (p.Asp106Ala) n.22A>C n.543A>C c.173A>C (p.Asp58Ala) c.398A>C (p.Asp133Ala) | |
| 1 | g.173914644T= | CA1207938939 | SERPINC1 | c.317A= (p.Asp106=) n.22A= n.543A= c.173A= (p.Asp58=) c.398A= (p.Asp133=) | |
| 1 | g.173914645C>A | CA343777534 | SERPINC1 | c.316G>T (p.Asp106Tyr) n.21G>T n.542G>T c.172G>T (p.Asp58Tyr) c.397G>T (p.Asp133Tyr) | |
| 1 | g.173914645C= | CA1207938940 | SERPINC1 | c.316G= (p.Asp106=) n.21G= n.542G= c.172G= (p.Asp58=) c.397G= (p.Asp133=) | |
| 1 | g.173914645C>G | CA343777535 | SERPINC1 | c.316G>C (p.Asp106His) n.21G>C n.542G>C c.172G>C (p.Asp58His) c.397G>C (p.Asp133His) | |
| 1 | g.173914645C>T | CA343777537 | SERPINC1 | c.316G>A (p.Asp106Asn) n.21G>A n.542G>A c.172G>A (p.Asp58Asn) c.397G>A (p.Asp133Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914646A= | CA1207938941 | SERPINC1 | c.315T= (p.Asn105=) n.20T= n.541T= c.171T= (p.Asn57=) c.396T= (p.Asn132=) | |
| 1 | g.173914646A>C | CA32782219 | SERPINC1 | c.315T>G (p.Asn105Lys) n.20T>G n.541T>G c.171T>G (p.Asn57Lys) c.396T>G (p.Asn132Lys) | dbSNP |
| 1 | g.173914646A>G | CA421942973 | SERPINC1 | c.315T>C (p.Asn105=) n.20T>C n.541T>C c.171T>C (p.Asn57=) c.396T>C (p.Asn132=) | dbSNP |
| 1 | g.173914646A>T | CA1251439 | SERPINC1 | c.315T>A (p.Asn105Lys) n.20T>A n.541T>A c.171T>A (p.Asn57Lys) c.396T>A (p.Asn132Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.173914647T>A | CA343777542 | SERPINC1 | c.314A>T (p.Asn105Ile) n.19A>T n.540A>T c.170A>T (p.Asn57Ile) c.395A>T (p.Asn132Ile) | |
| 1 | g.173914647T>C | CA1251440 | SERPINC1 | c.314A>G (p.Asn105Ser) n.19A>G n.540A>G c.170A>G (p.Asn57Ser) c.395A>G (p.Asn132Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914647T>G | CA343777540 | SERPINC1 | c.314A>C (p.Asn105Thr) n.19A>C n.540A>C c.170A>C (p.Asn57Thr) c.395A>C (p.Asn132Thr) | |
| 1 | g.173914647T= | CA1207938942 | SERPINC1 | c.314A= (p.Asn105=) n.19A= n.540A= c.170A= (p.Asn57=) c.395A= (p.Asn132=) | |
| 1 | g.173914648T>A | CA343777547 | SERPINC1 | c.313A>T (p.Asn105Tyr) n.18A>T n.539A>T c.169A>T (p.Asn57Tyr) c.394A>T (p.Asn132Tyr) | |
| 1 | g.173914648T>C | CA343777545 | SERPINC1 | c.313A>G (p.Asn105Asp) n.18A>G n.539A>G c.169A>G (p.Asn57Asp) c.394A>G (p.Asn132Asp) | |
| 1 | g.173914648T>G | CA343777546 | SERPINC1 | c.313A>C (p.Asn105His) n.18A>C n.539A>C c.169A>C (p.Asn57His) c.394A>C (p.Asn132His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914648T= | CA1207938943 | SERPINC1 | c.313A= (p.Asn105=) n.18A= n.539A= c.169A= (p.Asn57=) c.394A= (p.Asn132=) | |
| 1 | g.173914649G>A | CA421942978 | SERPINC1 | c.312C>T (p.Asp104=) n.17C>T n.538C>T c.168C>T (p.Asp56=) c.393C>T (p.Asp131=) | |
| 1 | g.173914649G>C | CA343777549 | SERPINC1 | c.312C>G (p.Asp104Glu) n.17C>G n.538C>G c.168C>G (p.Asp56Glu) c.393C>G (p.Asp131Glu) | |
| 1 | g.173914649G= | CA1207938944 | SERPINC1 | c.312C= (p.Asp104=) n.17C= n.538C= c.168C= (p.Asp56=) c.393C= (p.Asp131=) | |
| 1 | g.173914649G>T | CA343777551 | SERPINC1 | c.312C>A (p.Asp104Glu) n.17C>A n.538C>A c.168C>A (p.Asp56Glu) c.393C>A (p.Asp131Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914650T>A | CA1251441 | SERPINC1 | c.311A>T (p.Asp104Val) n.16A>T n.537A>T c.167A>T (p.Asp56Val) c.392A>T (p.Asp131Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914650T>C | CA343777553 | SERPINC1 | c.311A>G (p.Asp104Gly) n.16A>G n.537A>G c.167A>G (p.Asp56Gly) c.392A>G (p.Asp131Gly) | |
| 1 | g.173914650T>G | CA343777555 | SERPINC1 | c.311A>C (p.Asp104Ala) n.16A>C n.537A>C c.167A>C (p.Asp56Ala) c.392A>C (p.Asp131Ala) | |
| 1 | g.173914650T= | CA1143396461 | SERPINC1 | c.311A= (p.Asp104=) n.16A= n.537A= c.167A= (p.Asp56=) c.392A= (p.Asp131=) | |
| 1 | g.173914651C>A | CA343777556 | SERPINC1 | c.310G>T (p.Asp104Tyr) n.15G>T n.536G>T c.166G>T (p.Asp56Tyr) c.391G>T (p.Asp131Tyr) | |
| 1 | g.173914651C>G | CA343777558 | SERPINC1 | c.310G>C (p.Asp104His) n.15G>C n.536G>C c.166G>C (p.Asp56His) c.391G>C (p.Asp131His) | |
| 1 | g.173914651C>T | CA343777560 | SERPINC1 | c.310G>A (p.Asp104Asn) n.15G>A n.536G>A c.166G>A (p.Asp56Asn) c.391G>A (p.Asp131Asn) | gnomAD v4 |
| 1 | g.173914652A= | CA1148459095 | SERPINC1 | c.309T= (p.Asn103=) n.14T= n.535T= c.165T= (p.Asn55=) c.390T= (p.Asn130=) | |
| 1 | g.173914652A>C | CA343777561 | SERPINC1 | c.309T>G (p.Asn103Lys) n.14T>G n.535T>G c.165T>G (p.Asn55Lys) c.390T>G (p.Asn130Lys) | |
| 1 | g.173914652A>G | CA32782230 | SERPINC1 | c.309T>C (p.Asn103=) n.14T>C n.535T>C c.165T>C (p.Asn55=) c.390T>C (p.Asn130=) | dbSNP |
| 1 | g.173914652A>T | CA343777564 | SERPINC1 | c.309T>A (p.Asn103Lys) n.14T>A n.535T>A c.165T>A (p.Asn55Lys) c.390T>A (p.Asn130Lys) | |
| 1 | g.173914653T>A | CA343777565 | SERPINC1 | c.308A>T (p.Asn103Ile) n.13A>T n.534A>T c.164A>T (p.Asn55Ile) c.389A>T (p.Asn130Ile) | |
| 1 | g.173914653T>C | CA343777569 | SERPINC1 | c.308A>G (p.Asn103Ser) n.13A>G n.534A>G c.164A>G (p.Asn55Ser) c.389A>G (p.Asn130Ser) | |
| 1 | g.173914653T>G | CA343777567 | SERPINC1 | c.308A>C (p.Asn103Thr) n.13A>C n.534A>C c.164A>C (p.Asn55Thr) c.389A>C (p.Asn130Thr) | |
| 1 | g.173914654T>A | CA343777571 | SERPINC1 | c.307A>T (p.Asn103Tyr) n.12A>T n.533A>T c.163A>T (p.Asn55Tyr) c.388A>T (p.Asn130Tyr) | |
| 1 | g.173914654T>C | CA343777572 | SERPINC1 | c.307A>G (p.Asn103Asp) n.12A>G n.533A>G c.163A>G (p.Asn55Asp) c.388A>G (p.Asn130Asp) | |
| 1 | g.173914654T>G | CA343777574 | SERPINC1 | c.307A>C (p.Asn103His) n.12A>C n.533A>C c.163A>C (p.Asn55His) c.388A>C (p.Asn130His) | |
| 1 | g.173914655C>A | CA343777575 | SERPINC1 | c.306G>T (p.Lys102Asn) n.11G>T n.532G>T c.162G>T (p.Lys54Asn) c.387G>T (p.Lys129Asn) | |
| 1 | g.173914655C>G | CA343777576 | SERPINC1 | c.306G>C (p.Lys102Asn) n.11G>C n.532G>C c.162G>C (p.Lys54Asn) c.387G>C (p.Lys129Asn) | |
| 1 | g.173914655C>T | CA421942980 | SERPINC1 | c.306G>A (p.Lys102=) n.11G>A n.532G>A c.162G>A (p.Lys54=) c.387G>A (p.Lys129=) | |
| 1 | g.173914656T>A | CA32782236 | SERPINC1 | c.305A>T (p.Lys102Met) n.10A>T n.531A>T c.161A>T (p.Lys54Met) c.386A>T (p.Lys129Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914656T>C | CA343777577 | SERPINC1 | c.305A>G (p.Lys102Arg) n.10A>G n.531A>G c.161A>G (p.Lys54Arg) c.386A>G (p.Lys129Arg) | |
| 1 | g.173914656T>G | CA343777579 | SERPINC1 | c.305A>C (p.Lys102Thr) n.10A>C n.531A>C c.161A>C (p.Lys54Thr) c.386A>C (p.Lys129Thr) | |
| 1 | g.173914656T= | CA1207938945 | SERPINC1 | c.305A= (p.Lys102=) n.10A= n.531A= c.161A= (p.Lys54=) c.386A= (p.Lys129=) | |
| 1 | g.173914657T>A | CA343777581 | SERPINC1 | c.304A>T (p.Lys102Ter) n.9A>T n.530A>T c.160A>T (p.Lys54Ter) c.385A>T (p.Lys129Ter) | |
| 1 | g.173914657T>C | CA343777583 | SERPINC1 | c.304A>G (p.Lys102Glu) n.9A>G n.530A>G c.160A>G (p.Lys54Glu) c.385A>G (p.Lys129Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914657T>G | CA343777584 | SERPINC1 | c.304A>C (p.Lys102Gln) n.9A>C n.530A>C c.160A>C (p.Lys54Gln) c.385A>C (p.Lys129Gln) | |
| 1 | g.173914657T= | CA1207938946 | SERPINC1 | c.304A= (p.Lys102=) n.9A= n.530A= c.160A= (p.Lys54=) c.385A= (p.Lys129=) | |
| 1 | g.173914658G>A | CA421942985 | SERPINC1 | c.303C>T (p.Ser101=) n.8C>T n.529C>T c.159C>T (p.Ser53=) c.384C>T (p.Ser128=) | |
| 1 | g.173914658G>C | CA421942987 | SERPINC1 | c.303C>G (p.Ser101=) n.8C>G n.529C>G c.159C>G (p.Ser53=) c.384C>G (p.Ser128=) | |
| 1 | g.173914658G>T | CA421942988 | SERPINC1 | c.303C>A (p.Ser101=) n.8C>A n.529C>A c.159C>A (p.Ser53=) c.384C>A (p.Ser128=) | |
| 1 | g.173914659G>A | CA1251442 | SERPINC1 | c.302C>T (p.Ser101Phe) n.7C>T n.528C>T c.158C>T (p.Ser53Phe) c.383C>T (p.Ser128Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914659G>C | CA1251443 | SERPINC1 | c.302C>G (p.Ser101Cys) n.7C>G n.528C>G c.158C>G (p.Ser53Cys) c.383C>G (p.Ser128Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914659G= | CA1143382383 | SERPINC1 | c.302C= (p.Ser101=) n.7C= n.528C= c.158C= (p.Ser53=) c.383C= (p.Ser128=) | |
| 1 | g.173914659G>T | CA343777586 | SERPINC1 | c.302C>A (p.Ser101Tyr) n.7C>A n.528C>A c.158C>A (p.Ser53Tyr) c.383C>A (p.Ser128Tyr) | |
| 1 | g.173914660A>C | CA343777588 | SERPINC1 | c.301T>G (p.Ser101Ala) n.6T>G n.527T>G c.157T>G (p.Ser53Ala) c.382T>G (p.Ser128Ala) | |
| 1 | g.173914660A>G | CA343777590 | SERPINC1 | c.301T>C (p.Ser101Pro) n.6T>C n.527T>C c.157T>C (p.Ser53Pro) c.382T>C (p.Ser128Pro) | |
| 1 | g.173914660A>T | CA343777592 | SERPINC1 | c.301T>A (p.Ser101Thr) n.6T>A n.527T>A c.157T>A (p.Ser53Thr) c.382T>A (p.Ser128Thr) | |
| 1 | g.173914661A= | CA1207938947 | SERPINC1 | c.300T= (p.Asp100=) n.5T= n.526T= c.156T= (p.Asp52=) c.381T= (p.Asp127=) | |
| 1 | g.173914661A>C | CA343777593 | SERPINC1 | c.300T>G (p.Asp100Glu) n.5T>G n.526T>G c.156T>G (p.Asp52Glu) c.381T>G (p.Asp127Glu) | |
| 1 | g.173914661A>G | CA421942992 | SERPINC1 | c.300T>C (p.Asp100=) n.5T>C n.526T>C c.156T>C (p.Asp52=) c.381T>C (p.Asp127=) | dbSNP |
| 1 | g.173914661A>T | CA343777595 | SERPINC1 | c.300T>A (p.Asp100Glu) n.5T>A n.526T>A c.156T>A (p.Asp52Glu) c.381T>A (p.Asp127Glu) | |
| 1 | g.173914662T>A | CA343777599 | SERPINC1 | c.299A>T (p.Asp100Val) n.4A>T n.525A>T c.155A>T (p.Asp52Val) c.380A>T (p.Asp127Val) | gnomAD v4 |
| 1 | g.173914662T>C | CA1251444 | SERPINC1 | c.299A>G (p.Asp100Gly) n.4A>G n.525A>G c.155A>G (p.Asp52Gly) c.380A>G (p.Asp127Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914662T>G | CA343777598 | SERPINC1 | c.299A>C (p.Asp100Ala) n.4A>C n.525A>C c.155A>C (p.Asp52Ala) c.380A>C (p.Asp127Ala) | |
| 1 | g.173914662T= | CA1143669982 | SERPINC1 | c.299A= (p.Asp100=) n.4A= n.525A= c.155A= (p.Asp52=) c.380A= (p.Asp127=) | |
| 1 | g.173914663C>A | CA343777601 | SERPINC1 | c.298G>T (p.Asp100Tyr) n.3G>T n.524G>T c.154G>T (p.Asp52Tyr) c.379G>T (p.Asp127Tyr) | |
| 1 | g.173914663C>G | CA343777603 | SERPINC1 | c.298G>C (p.Asp100His) n.3G>C n.524G>C c.154G>C (p.Asp52His) c.379G>C (p.Asp127His) | |
| 1 | g.173914663C>T | CA343777604 | SERPINC1 | c.298G>A (p.Asp100Asn) n.3G>A n.524G>A c.154G>A (p.Asp52Asn) c.379G>A (p.Asp127Asn) | |
| 1 | g.173914664T>A | CA421942996 | SERPINC1 | c.297A>T (p.Ala99=) n.2A>T n.523A>T c.153A>T (p.Ala51=) c.378A>T (p.Ala126=) | |
| 1 | g.173914664T>C | CA421942994 | SERPINC1 | c.297A>G (p.Ala99=) n.2A>G n.523A>G c.153A>G (p.Ala51=) c.378A>G (p.Ala126=) | |
| 1 | g.173914664T>G | CA421942995 | SERPINC1 | c.297A>C (p.Ala99=) n.2A>C n.523A>C c.153A>C (p.Ala51=) c.378A>C (p.Ala126=) | |
| 1 | g.173914665G>A | CA343777606 | SERPINC1 | c.296C>T (p.Ala99Val) n.1C>T n.522C>T c.152C>T (p.Ala51Val) c.377C>T (p.Ala126Val) | gnomAD v4 |
| 1 | g.173914665G>C | CA343777607 | SERPINC1 | c.296C>G (p.Ala99Gly) n.1C>G n.522C>G c.152C>G (p.Ala51Gly) c.377C>G (p.Ala126Gly) | |
| 1 | g.173914665G>T | CA343777610 | SERPINC1 | c.296C>A (p.Ala99Glu) n.1C>A n.522C>A c.152C>A (p.Ala51Glu) c.377C>A (p.Ala126Glu) | ClinVar dbSNP |
| 1 | g.173914666C>A | CA343777612 | SERPINC1 | c.295G>T (p.Ala99Ser) n.521G>T c.151G>T (p.Ala51Ser) c.376G>T (p.Ala126Ser) | |
| 1 | g.173914666C>G | CA343777616 | SERPINC1 | c.295G>C (p.Ala99Pro) n.521G>C c.151G>C (p.Ala51Pro) c.376G>C (p.Ala126Pro) | |
| 1 | g.173914666C>T | CA343777614 | SERPINC1 | c.295G>A (p.Ala99Thr) n.521G>A c.151G>A (p.Ala51Thr) c.376G>A (p.Ala126Thr) | |
| 1 | g.173914667del | CA2586964437 | SERPINC1 | c.295del (p.Ala99GlnfsTer15) n.521del c.151del (p.Ala51GlnfsTer15) c.376del (p.Ala126GlnfsTer15) | |
| 1 | g.173914667C>A | CA421942998 | SERPINC1 | c.294G>T (p.Leu98=) n.520G>T c.150G>T (p.Leu50=) c.375G>T (p.Leu125=) | |
| 1 | g.173914667C>G | CA421942999 | SERPINC1 | c.294G>C (p.Leu98=) n.520G>C c.150G>C (p.Leu50=) c.375G>C (p.Leu125=) | |
| 1 | g.173914667C>T | CA421943000 | SERPINC1 | c.294G>A (p.Leu98=) n.520G>A c.150G>A (p.Leu50=) c.375G>A (p.Leu125=) | |
| 1 | g.173914668A>C | CA343777617 | SERPINC1 | c.293T>G (p.Leu98Arg) n.519T>G c.149T>G (p.Leu50Arg) c.374T>G (p.Leu125Arg) | |
| 1 | g.173914668A>G | CA343777619 | SERPINC1 | c.293T>C (p.Leu98Pro) n.519T>C c.149T>C (p.Leu50Pro) c.374T>C (p.Leu125Pro) | gnomAD v4 |
| 1 | g.173914668A>T | CA343777621 | SERPINC1 | c.293T>A (p.Leu98Gln) n.519T>A c.149T>A (p.Leu50Gln) c.374T>A (p.Leu125Gln) | |
| 1 | g.173914669G>A | CA421943004 | SERPINC1 | c.292C>T (p.Leu98=) n.518C>T c.148C>T (p.Leu50=) c.373C>T (p.Leu125=) | gnomAD v4 |
| 1 | g.173914669G>C | CA343777622 | SERPINC1 | c.292C>G (p.Leu98Val) n.518C>G c.148C>G (p.Leu50Val) c.373C>G (p.Leu125Val) | |
| 1 | g.173914669G>T | CA343777624 | SERPINC1 | c.292C>A (p.Leu98Met) n.518C>A c.148C>A (p.Leu50Met) c.373C>A (p.Leu125Met) | |
| 1 | g.173914670G>A | CA421943005 | SERPINC1 | c.291C>T (p.His97=) n.517C>T c.147C>T (p.His49=) c.372C>T (p.His124=) | |
| 1 | g.173914670G>C | CA343777625 | SERPINC1 | c.291C>G (p.His97Gln) n.517C>G c.147C>G (p.His49Gln) c.372C>G (p.His124Gln) | |
| 1 | g.173914670G>T | CA343777627 | SERPINC1 | c.291C>A (p.His97Gln) n.517C>A c.147C>A (p.His49Gln) c.372C>A (p.His124Gln) | |
| 1 | g.173914671T>A | CA343777628 | SERPINC1 | c.290A>T (p.His97Leu) n.516A>T c.146A>T (p.His49Leu) c.371A>T (p.His124Leu) | |
| 1 | g.173914671T>C | CA343777630 | SERPINC1 | c.290A>G (p.His97Arg) n.516A>G c.146A>G (p.His49Arg) c.371A>G (p.His124Arg) | |
| 1 | g.173914671T>G | CA343777631 | SERPINC1 | c.290A>C (p.His97Pro) n.516A>C c.146A>C (p.His49Pro) c.371A>C (p.His124Pro) | |
| 1 | g.173914672G>A | CA343777633 | SERPINC1 | c.289C>T (p.His97Tyr) n.515C>T c.145C>T (p.His49Tyr) c.370C>T (p.His124Tyr) | |
| 1 | g.173914672G>C | CA343777635 | SERPINC1 | c.289C>G (p.His97Asp) n.515C>G c.145C>G (p.His49Asp) c.370C>G (p.His124Asp) | |
| 1 | g.173914672G>T | CA343777636 | SERPINC1 | c.289C>A (p.His97Asn) n.515C>A c.145C>A (p.His49Asn) c.370C>A (p.His124Asn) | |
| 1 | g.173914673C>A | CA343777639 | SERPINC1 | c.288G>T (p.Gln96His) n.514G>T c.144G>T (p.Gln48His) c.369G>T (p.Gln123His) | |
| 1 | g.173914673C>G | CA343777638 | SERPINC1 | c.288G>C (p.Gln96His) n.514G>C c.144G>C (p.Gln48His) c.369G>C (p.Gln123His) | |
| 1 | g.173914673C>T | CA421943009 | SERPINC1 | c.288G>A (p.Gln96=) n.514G>A c.144G>A (p.Gln48=) c.369G>A (p.Gln123=) | |
| 1 | g.173914674T>A | CA343777641 | SERPINC1 | c.287A>T (p.Gln96Leu) n.513A>T c.143A>T (p.Gln48Leu) c.368A>T (p.Gln123Leu) | |
| 1 | g.173914674T>C | CA343777644 | SERPINC1 | c.287A>G (p.Gln96Arg) n.513A>G c.143A>G (p.Gln48Arg) c.368A>G (p.Gln123Arg) | dbSNP |
| 1 | g.173914674T>G | CA343777643 | SERPINC1 | c.287A>C (p.Gln96Pro) n.513A>C c.143A>C (p.Gln48Pro) c.368A>C (p.Gln123Pro) | |
| 1 | g.173914674T= | CA1207938948 | SERPINC1 | c.287A= (p.Gln96=) n.513A= c.143A= (p.Gln48=) c.368A= (p.Gln123=) | |
| 1 | g.173914675G>A | CA343777646 | SERPINC1 | c.286C>T (p.Gln96Ter) n.512C>T c.142C>T (p.Gln48Ter) c.367C>T (p.Gln123Ter) | gnomAD v4 |
| 1 | g.173914675G>C | CA343777650 | SERPINC1 | c.286C>G (p.Gln96Glu) n.512C>G c.142C>G (p.Gln48Glu) c.367C>G (p.Gln123Glu) | gnomAD v4 |
| 1 | g.173914675G= | CA1207938949 | SERPINC1 | c.286C= (p.Gln96=) n.512C= c.142C= (p.Gln48=) c.367C= (p.Gln123=) | |
| 1 | g.173914675G>T | CA343777648 | SERPINC1 | c.286C>A (p.Gln96Lys) n.512C>A c.142C>A (p.Gln48Lys) c.367C>A (p.Gln123Lys) | dbSNP |
| 1 | g.173914677_173914680del | CA2586964438 | SERPINC1 | c.283_286del (p.Tyr95SerfsTer18) n.509_512del c.139_142del (p.Tyr47SerfsTer18) c.364_367del (p.Tyr122SerfsTer18) | |
| 1 | g.173914676A= | CA1207938950 | SERPINC1 | c.285T= (p.Tyr95=) n.511T= c.141T= (p.Tyr47=) c.366T= (p.Tyr122=) | |
| 1 | g.173914676A>C | CA343777652 | SERPINC1 | c.285T>G (p.Tyr95Ter) n.511T>G c.141T>G (p.Tyr47Ter) c.366T>G (p.Tyr122Ter) | |
| 1 | g.173914676A>G | CA421943012 | SERPINC1 | c.285T>C (p.Tyr95=) n.511T>C c.141T>C (p.Tyr47=) c.366T>C (p.Tyr122=) | dbSNP |
| 1 | g.173914676A>T | CA343777654 | SERPINC1 | c.285T>A (p.Tyr95Ter) n.511T>A c.141T>A (p.Tyr47Ter) c.366T>A (p.Tyr122Ter) | |
| 1 | g.173914677T>A | CA343777656 | SERPINC1 | c.284A>T (p.Tyr95Phe) n.510A>T c.140A>T (p.Tyr47Phe) c.365A>T (p.Tyr122Phe) | |
| 1 | g.173914677T>C | CA32782248 | SERPINC1 | c.284A>G (p.Tyr95Cys) n.510A>G c.140A>G (p.Tyr47Cys) c.365A>G (p.Tyr122Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914677T>G | CA343777658 | SERPINC1 | c.284A>C (p.Tyr95Ser) n.510A>C c.140A>C (p.Tyr47Ser) c.365A>C (p.Tyr122Ser) | |
| 1 | g.173914677T= | CA1207938951 | SERPINC1 | c.284A= (p.Tyr95=) n.510A= c.140A= (p.Tyr47=) c.365A= (p.Tyr122=) | |
| 1 | g.173914678A= | CA1207938952 | SERPINC1 | c.283T= (p.Tyr95=) n.509T= c.139T= (p.Tyr47=) c.364T= (p.Tyr122=) | |
| 1 | g.173914678A>C | CA343777660 | SERPINC1 | c.283T>G (p.Tyr95Asp) n.509T>G c.139T>G (p.Tyr47Asp) c.364T>G (p.Tyr122Asp) | |
| 1 | g.173914678A>G | CA343777661 | SERPINC1 | c.283T>C (p.Tyr95His) n.509T>C c.139T>C (p.Tyr47His) c.364T>C (p.Tyr122His) | ClinVar dbSNP |
| 1 | g.173914678A>T | CA343777663 | SERPINC1 | c.283T>A (p.Tyr95Asn) n.509T>A c.139T>A (p.Tyr47Asn) c.364T>A (p.Tyr122Asn) | |
| 1 | g.173914680_173914683del | CA1670972946 | SERPINC1 | c.280_283del (p.Phe94IlefsTer19) n.506_509del c.136_139del (p.Phe46IlefsTer19) c.361_364del (p.Phe121IlefsTer19) | ClinVar |
| 1 | g.173914679G>A | CA421943017 | SERPINC1 | c.282C>T (p.Phe94=) n.508C>T c.138C>T (p.Phe46=) c.363C>T (p.Phe121=) | |
| 1 | g.173914679G>C | CA343777665 | SERPINC1 | c.282C>G (p.Phe94Leu) n.508C>G c.138C>G (p.Phe46Leu) c.363C>G (p.Phe121Leu) | |
| 1 | g.173914679G>T | CA343777666 | SERPINC1 | c.282C>A (p.Phe94Leu) n.508C>A c.138C>A (p.Phe46Leu) c.363C>A (p.Phe121Leu) | |
| 1 | g.173914680A>C | CA343777672 | SERPINC1 | c.281T>G (p.Phe94Cys) n.507T>G c.137T>G (p.Phe46Cys) c.362T>G (p.Phe121Cys) | |
| 1 | g.173914680A>G | CA343777670 | SERPINC1 | c.281T>C (p.Phe94Ser) n.507T>C c.137T>C (p.Phe46Ser) c.362T>C (p.Phe121Ser) | |
| 1 | g.173914680A>T | CA343777668 | SERPINC1 | c.281T>A (p.Phe94Tyr) n.507T>A c.137T>A (p.Phe46Tyr) c.362T>A (p.Phe121Tyr) | |
| 1 | g.173914681A= | CA1207938953 | SERPINC1 | c.280T= (p.Phe94=) n.506T= c.136T= (p.Phe46=) c.361T= (p.Phe121=) | |
| 1 | g.173914681A>C | CA343777673 | SERPINC1 | c.280T>G (p.Phe94Val) n.506T>G c.136T>G (p.Phe46Val) c.361T>G (p.Phe121Val) | |
| 1 | g.173914681A>G | CA343777675 | SERPINC1 | c.280T>C (p.Phe94Leu) n.506T>C c.136T>C (p.Phe46Leu) c.361T>C (p.Phe121Leu) | |
| 1 | g.173914681A>T | CA343777677 | SERPINC1 | c.280T>A (p.Phe94Ile) n.506T>A c.136T>A (p.Phe46Ile) c.361T>A (p.Phe121Ile) | COSMIC |
| 1 | g.173914681_173914682insGTT | CA916341738 | SERPINC1 | c.279_280insAAC (p.Thr93_Phe94insAsn) n.505_506insAAC c.135_136insAAC (p.Thr45_Phe46insAsn) c.360_361insAAC (p.Thr120_Phe121insAsn) | dbSNP |
| 1 | g.173914682A>C | CA421943020 | SERPINC1 | c.279T>G (p.Thr93=) n.505T>G c.135T>G (p.Thr45=) c.360T>G (p.Thr120=) | |
| 1 | g.173914682A>G | CA421943022 | SERPINC1 | c.279T>C (p.Thr93=) n.505T>C c.135T>C (p.Thr45=) c.360T>C (p.Thr120=) | |
| 1 | g.173914682A>T | CA421943023 | SERPINC1 | c.279T>A (p.Thr93=) n.505T>A c.135T>A (p.Thr45=) c.360T>A (p.Thr120=) | |
| 1 | g.173914683G>A | CA343777679 | SERPINC1 | c.278C>T (p.Thr93Ile) n.504C>T c.134C>T (p.Thr45Ile) c.359C>T (p.Thr120Ile) | |
| 1 | g.173914683G>C | CA343777681 | SERPINC1 | c.278C>G (p.Thr93Ser) n.504C>G c.134C>G (p.Thr45Ser) c.359C>G (p.Thr120Ser) | |
| 1 | g.173914683G>T | CA343777683 | SERPINC1 | c.278C>A (p.Thr93Asn) n.504C>A c.134C>A (p.Thr45Asn) c.359C>A (p.Thr120Asn) | gnomAD v4 |
| 1 | g.173914684del | CA2695199918 | SERPINC1 | c.277del (p.Thr93LeufsTer21) n.503del c.133del (p.Thr45LeufsTer21) c.358del (p.Thr120LeufsTer21) | ClinVar |
| 1 | g.173914684T>A | CA343777685 | SERPINC1 | c.277A>T (p.Thr93Ser) n.503A>T c.133A>T (p.Thr45Ser) c.358A>T (p.Thr120Ser) | |
| 1 | g.173914684T>C | CA343777686 | SERPINC1 | c.277A>G (p.Thr93Ala) n.503A>G c.133A>G (p.Thr45Ala) c.358A>G (p.Thr120Ala) | |
| 1 | g.173914684T>G | CA343777688 | SERPINC1 | c.277A>C (p.Thr93Pro) n.503A>C c.133A>C (p.Thr45Pro) c.358A>C (p.Thr120Pro) | |
| 1 | g.173914685G>A | CA421943027 | SERPINC1 | c.276C>T (p.Thr92=) n.502C>T c.132C>T (p.Thr44=) c.357C>T (p.Thr119=) | gnomAD v4 |
| 1 | g.173914685G>C | CA421943025 | SERPINC1 | c.276C>G (p.Thr92=) n.502C>G c.132C>G (p.Thr44=) c.357C>G (p.Thr119=) | |
| 1 | g.173914685G>T | CA421943026 | SERPINC1 | c.276C>A (p.Thr92=) n.502C>A c.132C>A (p.Thr44=) c.357C>A (p.Thr119=) | |
| 1 | g.173914685_173914688delinsGGTA | CA1207938954 | SERPINC1 | c.273_276delinsTACC (p.Ala91=) n.499_502delinsTACC c.129_132delinsTACC (p.Ala43=) c.354_357delinsTACC (p.Ala118=) | |
| 1 | g.173914686G>A | CA343777690 | SERPINC1 | c.275C>T (p.Thr92Ile) n.501C>T c.131C>T (p.Thr44Ile) c.356C>T (p.Thr119Ile) | |
| 1 | g.173914686G>C | CA343777692 | SERPINC1 | c.275C>G (p.Thr92Ser) n.501C>G c.131C>G (p.Thr44Ser) c.356C>G (p.Thr119Ser) | |
| 1 | g.173914686G>T | CA343777693 | SERPINC1 | c.275C>A (p.Thr92Asn) n.501C>A c.131C>A (p.Thr44Asn) c.356C>A (p.Thr119Asn) | |
| 1 | g.173914687_173914689del | CA916341739 | SERPINC1 | c.273_275del (p.Thr92del) n.499_501del c.129_131del (p.Thr44del) c.354_356del (p.Thr119del) | dbSNP |
| 1 | g.173914687T>A | CA343777696 | SERPINC1 | c.274A>T (p.Thr92Ser) n.500A>T c.130A>T (p.Thr44Ser) c.355A>T (p.Thr119Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914687T>C | CA343777698 | SERPINC1 | c.274A>G (p.Thr92Ala) n.500A>G c.130A>G (p.Thr44Ala) c.355A>G (p.Thr119Ala) | |
| 1 | g.173914687T>G | CA343777695 | SERPINC1 | c.274A>C (p.Thr92Pro) n.500A>C c.130A>C (p.Thr44Pro) c.355A>C (p.Thr119Pro) | |
| 1 | g.173914687T= | CA1207938955 | SERPINC1 | c.274A= (p.Thr92=) n.500A= c.130A= (p.Thr44=) c.355A= (p.Thr119=) | |
| 1 | g.173914688A>C | CA421943031 | SERPINC1 | c.273T>G (p.Ala91=) n.499T>G c.129T>G (p.Ala43=) c.354T>G (p.Ala118=) | |
| 1 | g.173914688A>G | CA421943032 | SERPINC1 | c.273T>C (p.Ala91=) n.499T>C c.129T>C (p.Ala43=) c.354T>C (p.Ala118=) | |
| 1 | g.173914688A>T | CA421943033 | SERPINC1 | c.273T>A (p.Ala91=) n.499T>A c.129T>A (p.Ala43=) c.354T>A (p.Ala118=) | |
| 1 | g.173914689G>A | CA343777700 | SERPINC1 | c.272C>T (p.Ala91Val) n.498C>T c.128C>T (p.Ala43Val) c.353C>T (p.Ala118Val) | ClinVar COSMIC |
| 1 | g.173914689G>C | CA343777702 | SERPINC1 | c.272C>G (p.Ala91Gly) n.498C>G c.128C>G (p.Ala43Gly) c.353C>G (p.Ala118Gly) | |
| 1 | g.173914689G>T | CA343777703 | SERPINC1 | c.272C>A (p.Ala91Asp) n.498C>A c.128C>A (p.Ala43Asp) c.353C>A (p.Ala118Asp) | |
| 1 | g.173914690C>A | CA343777706 | SERPINC1 | c.271G>T (p.Ala91Ser) n.497G>T c.127G>T (p.Ala43Ser) c.352G>T (p.Ala118Ser) | |
| 1 | g.173914690C>G | CA343777707 | SERPINC1 | c.271G>C (p.Ala91Pro) n.497G>C c.127G>C (p.Ala43Pro) c.352G>C (p.Ala118Pro) | |
| 1 | g.173914690C>T | CA343777709 | SERPINC1 | c.271G>A (p.Ala91Thr) n.497G>A c.127G>A (p.Ala43Thr) c.352G>A (p.Ala118Thr) |