UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.173914640_173922032del | CA2573051424 | ClinVar | ||
| 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.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) | |
| 1 | g.173914691A>C | CA343777711 | SERPINC1 | c.270T>G (p.Phe90Leu) n.496T>G c.126T>G (p.Phe42Leu) c.351T>G (p.Phe117Leu) | |
| 1 | g.173914691A>G | CA421943034 | SERPINC1 | c.270T>C (p.Phe90=) n.496T>C c.126T>C (p.Phe42=) c.351T>C (p.Phe117=) | |
| 1 | g.173914691A>T | CA343777710 | SERPINC1 | c.270T>A (p.Phe90Leu) n.496T>A c.126T>A (p.Phe42Leu) c.351T>A (p.Phe117Leu) | |
| 1 | g.173914692A>C | CA343777713 | SERPINC1 | c.269T>G (p.Phe90Cys) n.495T>G c.125T>G (p.Phe42Cys) c.350T>G (p.Phe117Cys) | ClinVar |
| 1 | g.173914692A>G | CA343777715 | SERPINC1 | c.269T>C (p.Phe90Ser) n.495T>C c.125T>C (p.Phe42Ser) c.350T>C (p.Phe117Ser) | |
| 1 | g.173914692A>T | CA343777716 | SERPINC1 | c.269T>A (p.Phe90Tyr) n.495T>A c.125T>A (p.Phe42Tyr) c.350T>A (p.Phe117Tyr) | |
| 1 | g.173914693A>C | CA343777718 | SERPINC1 | c.268T>G (p.Phe90Val) n.494T>G c.124T>G (p.Phe42Val) c.349T>G (p.Phe117Val) | |
| 1 | g.173914693A>G | CA343777720 | SERPINC1 | c.268T>C (p.Phe90Leu) n.494T>C c.124T>C (p.Phe42Leu) c.349T>C (p.Phe117Leu) | |
| 1 | g.173914693A>T | CA343777721 | SERPINC1 | c.268T>A (p.Phe90Ile) n.494T>A c.124T>A (p.Phe42Ile) c.349T>A (p.Phe117Ile) | |
| 1 | g.173914694G>A | CA421943036 | SERPINC1 | c.267C>T (p.Arg89=) n.493C>T c.123C>T (p.Arg41=) c.348C>T (p.Arg116=) | gnomAD v4 |
| 1 | g.173914694G>C | CA421943037 | SERPINC1 | c.267C>G (p.Arg89=) n.493C>G c.123C>G (p.Arg41=) c.348C>G (p.Arg116=) | |
| 1 | g.173914694G= | CA1207938956 | SERPINC1 | c.267C= (p.Arg89=) n.493C= c.123C= (p.Arg41=) c.348C= (p.Arg116=) | |
| 1 | g.173914694G>T | CA421943038 | SERPINC1 | c.267C>A (p.Arg89=) n.493C>A c.123C>A (p.Arg41=) c.348C>A (p.Arg116=) | dbSNP |
| 1 | g.173914695C>A | CA343777723 | SERPINC1 | c.266G>T (p.Arg89Leu) n.492G>T c.122G>T (p.Arg41Leu) c.347G>T (p.Arg116Leu) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173914695C= | CA1148246800 | SERPINC1 | c.266G= (p.Arg89=) n.492G= c.122G= (p.Arg41=) c.347G= (p.Arg116=) | |
| 1 | g.173914695C>G | CA343777725 | SERPINC1 | c.266G>C (p.Arg89Pro) n.492G>C c.122G>C (p.Arg41Pro) c.347G>C (p.Arg116Pro) | |
| 1 | g.173914695C>T | CA1251445 | SERPINC1 | c.266G>A (p.Arg89His) n.492G>A c.122G>A (p.Arg41His) c.347G>A (p.Arg116His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914695_173914696delinsGC | CA2573051124 | SERPINC1 | c.265_266delinsGC (p.Arg89Ala) n.491_492delinsGC c.121_122delinsGC (p.Arg41Ala) c.346_347delinsGC (p.Arg116Ala) | |
| 1 | g.173914696G>A | CA1251446 | SERPINC1 | c.265C>T (p.Arg89Cys) n.491C>T c.121C>T (p.Arg41Cys) c.346C>T (p.Arg116Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914696G>C | CA343777728 | SERPINC1 | c.265C>G (p.Arg89Gly) n.491C>G c.121C>G (p.Arg41Gly) c.346C>G (p.Arg116Gly) | |
| 1 | g.173914696G= | CA1142168120 | SERPINC1 | c.265C= (p.Arg89=) n.491C= c.121C= (p.Arg41=) c.346C= (p.Arg116=) | |
| 1 | g.173914696G>T | CA343777730 | SERPINC1 | c.265C>A (p.Arg89Ser) n.491C>A c.121C>A (p.Arg41Ser) c.346C>A (p.Arg116Ser) | |
| 1 | g.173914697G>A | CA421943042 | SERPINC1 | c.264C>T (p.Ser88=) n.490C>T c.120C>T (p.Ser40=) c.345C>T (p.Ser115=) | |
| 1 | g.173914697G>C | CA421943043 | SERPINC1 | c.264C>G (p.Ser88=) n.490C>G c.120C>G (p.Ser40=) c.345C>G (p.Ser115=) | dbSNP |
| 1 | g.173914697G= | CA1207938957 | SERPINC1 | c.264C= (p.Ser88=) n.490C= c.120C= (p.Ser40=) c.345C= (p.Ser115=) | |
| 1 | g.173914697G>T | CA421943044 | SERPINC1 | c.264C>A (p.Ser88=) n.490C>A c.120C>A (p.Ser40=) c.345C>A (p.Ser115=) | |
| 1 | g.173914698G>A | CA343777732 | SERPINC1 | c.263C>T (p.Ser88Phe) n.489C>T c.119C>T (p.Ser40Phe) c.344C>T (p.Ser115Phe) | gnomAD v4 |
| 1 | g.173914698G>C | CA343777734 | SERPINC1 | c.263C>G (p.Ser88Cys) n.489C>G c.119C>G (p.Ser40Cys) c.344C>G (p.Ser115Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914698G= | CA1207938958 | SERPINC1 | c.263C= (p.Ser88=) n.489C= c.119C= (p.Ser40=) c.344C= (p.Ser115=) | |
| 1 | g.173914698G>T | CA1251447 | SERPINC1 | c.263C>A (p.Ser88Tyr) n.489C>A c.119C>A (p.Ser40Tyr) c.344C>A (p.Ser115Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914698_173914718del | CA2586964441 | SERPINC1 | c.243_263del (p.Trp81_Ser88delinsCys) n.469_489del c.99_119del (p.Trp33_Ser40delinsCys) c.324_344del (p.Trp108_Ser115delinsCys) | |
| 1 | g.173914698_173914719delinsT | CA2582342990 | SERPINC1 | c.242_263delinsA (p.Trp81_Ser88delinsTyr) n.468_489delinsA c.98_119delinsA (p.Trp33_Ser40delinsTyr) c.323_344delinsA (p.Trp108_Ser115delinsTyr) | |
| 1 | g.173914699A>C | CA343777735 | SERPINC1 | c.262T>G (p.Ser88Ala) n.488T>G c.118T>G (p.Ser40Ala) c.343T>G (p.Ser115Ala) | |
| 1 | g.173914699A>G | CA343777737 | SERPINC1 | c.262T>C (p.Ser88Pro) n.488T>C c.118T>C (p.Ser40Pro) c.343T>C (p.Ser115Pro) | |
| 1 | g.173914699A>T | CA343777739 | SERPINC1 | c.262T>A (p.Ser88Thr) n.488T>A c.118T>A (p.Ser40Thr) c.343T>A (p.Ser115Thr) | |
| 1 | g.173914700A= | CA1207938959 | SERPINC1 | c.261T= (p.Asn87=) n.487T= c.117T= (p.Asn39=) c.342T= (p.Asn114=) | |
| 1 | g.173914700A>C | CA343777741 | SERPINC1 | c.261T>G (p.Asn87Lys) n.487T>G c.117T>G (p.Asn39Lys) c.342T>G (p.Asn114Lys) | |
| 1 | g.173914700A>G | CA32782266 | SERPINC1 | c.261T>C (p.Asn87=) n.487T>C c.117T>C (p.Asn39=) c.342T>C (p.Asn114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914700A>T | CA343777742 | SERPINC1 | c.261T>A (p.Asn87Lys) n.487T>A c.117T>A (p.Asn39Lys) c.342T>A (p.Asn114Lys) | |
| 1 | g.173914700_173914702del | CA2582323034 | SERPINC1 | c.259_261del (p.Asn87del) n.485_487del c.115_117del (p.Asn39del) c.340_342del (p.Asn114del) | |
| 1 | g.173914701T>A | CA343777748 | SERPINC1 | c.260A>T (p.Asn87Ile) n.486A>T c.116A>T (p.Asn39Ile) c.341A>T (p.Asn114Ile) | |
| 1 | g.173914701T>C | CA343777746 | SERPINC1 | c.260A>G (p.Asn87Ser) n.486A>G c.116A>G (p.Asn39Ser) c.341A>G (p.Asn114Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914701T>G | CA343777745 | SERPINC1 | c.260A>C (p.Asn87Thr) n.486A>C c.116A>C (p.Asn39Thr) c.341A>C (p.Asn114Thr) | |
| 1 | g.173914702T>A | CA343777750 | SERPINC1 | c.259A>T (p.Asn87Tyr) n.485A>T c.115A>T (p.Asn39Tyr) c.340A>T (p.Asn114Tyr) | |
| 1 | g.173914702T>C | CA343777751 | SERPINC1 | c.259A>G (p.Asn87Asp) n.485A>G c.115A>G (p.Asn39Asp) c.340A>G (p.Asn114Asp) | |
| 1 | g.173914702T>G | CA343777753 | SERPINC1 | c.259A>C (p.Asn87His) n.485A>C c.115A>C (p.Asn39His) c.340A>C (p.Asn114His) | |
| 1 | g.173914703G>A | CA421943048 | SERPINC1 | c.258C>T (p.Ala86=) n.484C>T c.114C>T (p.Ala38=) c.339C>T (p.Ala113=) | |
| 1 | g.173914703G>C | CA421943049 | SERPINC1 | c.258C>G (p.Ala86=) n.484C>G c.114C>G (p.Ala38=) c.339C>G (p.Ala113=) | |
| 1 | g.173914703G>T | CA421943050 | SERPINC1 | c.258C>A (p.Ala86=) n.484C>A c.114C>A (p.Ala38=) c.339C>A (p.Ala113=) | |
| 1 | g.173914704G>A | CA343777755 | SERPINC1 | c.257C>T (p.Ala86Val) n.483C>T c.113C>T (p.Ala38Val) c.338C>T (p.Ala113Val) | |
| 1 | g.173914704G>C | CA343777756 | SERPINC1 | c.257C>G (p.Ala86Gly) n.483C>G c.113C>G (p.Ala38Gly) c.338C>G (p.Ala113Gly) | |
| 1 | g.173914704G>T | CA343777758 | SERPINC1 | c.257C>A (p.Ala86Asp) n.483C>A c.113C>A (p.Ala38Asp) c.338C>A (p.Ala113Asp) | |
| 1 | g.173914705C>A | CA343777763 | SERPINC1 | c.256G>T (p.Ala86Ser) n.482G>T c.112G>T (p.Ala38Ser) c.337G>T (p.Ala113Ser) | |
| 1 | g.173914705C>G | CA343777760 | SERPINC1 | c.256G>C (p.Ala86Pro) n.482G>C c.112G>C (p.Ala38Pro) c.337G>C (p.Ala113Pro) | |
| 1 | g.173914705C>T | CA343777761 | SERPINC1 | c.256G>A (p.Ala86Thr) n.482G>A c.112G>A (p.Ala38Thr) c.337G>A (p.Ala113Thr) | |
| 1 | g.173914706C>A | CA343777765 | SERPINC1 | c.255G>T (p.Lys85Asn) n.481G>T c.111G>T (p.Lys37Asn) c.336G>T (p.Lys112Asn) | |
| 1 | g.173914706C>G | CA343777767 | SERPINC1 | c.255G>C (p.Lys85Asn) n.481G>C c.111G>C (p.Lys37Asn) c.336G>C (p.Lys112Asn) | |
| 1 | g.173914706C>T | CA421943052 | SERPINC1 | c.255G>A (p.Lys85=) n.481G>A c.111G>A (p.Lys37=) c.336G>A (p.Lys112=) | |
| 1 | g.173914707T>A | CA343777769 | SERPINC1 | c.254A>T (p.Lys85Met) n.480A>T c.110A>T (p.Lys37Met) c.335A>T (p.Lys112Met) | |
| 1 | g.173914707T>C | CA343777770 | SERPINC1 | c.254A>G (p.Lys85Arg) n.480A>G c.110A>G (p.Lys37Arg) c.335A>G (p.Lys112Arg) | |
| 1 | g.173914707T>G | CA343777775 | SERPINC1 | c.254A>C (p.Lys85Thr) n.480A>C c.110A>C (p.Lys37Thr) c.335A>C (p.Lys112Thr) | |
| 1 | g.173914708T>A | CA343777778 | SERPINC1 | c.253A>T (p.Lys85Ter) n.479A>T c.109A>T (p.Lys37Ter) c.334A>T (p.Lys112Ter) | |
| 1 | g.173914708T>C | CA343777776 | SERPINC1 | c.253A>G (p.Lys85Glu) n.479A>G c.109A>G (p.Lys37Glu) c.334A>G (p.Lys112Glu) | |
| 1 | g.173914708T>G | CA343777777 | SERPINC1 | c.253A>C (p.Lys85Gln) n.479A>C c.109A>C (p.Lys37Gln) c.334A>C (p.Lys112Gln) | gnomAD v4 |
| 1 | g.173914709G>A | CA421943054 | SERPINC1 | c.252C>T (p.Ser84=) n.478C>T c.108C>T (p.Ser36=) c.333C>T (p.Ser111=) | dbSNP COSMIC |
| 1 | g.173914709G>C | CA421943055 | SERPINC1 | c.252C>G (p.Ser84=) n.478C>G c.108C>G (p.Ser36=) c.333C>G (p.Ser111=) | |
| 1 | g.173914709G>T | CA421943056 | SERPINC1 | c.252C>A (p.Ser84=) n.478C>A c.108C>A (p.Ser36=) c.333C>A (p.Ser111=) | |
| 1 | g.173914710G>A | CA343777779 | SERPINC1 | c.251C>T (p.Ser84Phe) n.477C>T c.107C>T (p.Ser36Phe) c.332C>T (p.Ser111Phe) | |
| 1 | g.173914710G>C | CA343777780 | SERPINC1 | c.251C>G (p.Ser84Cys) n.477C>G c.107C>G (p.Ser36Cys) c.332C>G (p.Ser111Cys) | |
| 1 | g.173914710G>T | CA343777781 | SERPINC1 | c.251C>A (p.Ser84Tyr) n.477C>A c.107C>A (p.Ser36Tyr) c.332C>A (p.Ser111Tyr) | |
| 1 | g.173914711A= | CA1207938960 | SERPINC1 | c.250T= (p.Ser84=) n.476T= c.106T= (p.Ser36=) c.331T= (p.Ser111=) | |
| 1 | g.173914711A>C | CA343777782 | SERPINC1 | c.250T>G (p.Ser84Ala) n.476T>G c.106T>G (p.Ser36Ala) c.331T>G (p.Ser111Ala) | |
| 1 | g.173914711A>G | CA343777783 | SERPINC1 | c.250T>C (p.Ser84Pro) n.476T>C c.106T>C (p.Ser36Pro) c.331T>C (p.Ser111Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914711A>T | CA343777785 | SERPINC1 | c.250T>A (p.Ser84Thr) n.476T>A c.106T>A (p.Ser36Thr) c.331T>A (p.Ser111Thr) | |
| 1 | g.173914712C>A | CA421943060 | SERPINC1 | c.249G>T (p.Leu83=) n.475G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) | |
| 1 | g.173914712C= | CA1207938961 | SERPINC1 | c.249G= (p.Leu83=) n.475G= c.105G= (p.Leu35=) c.330G= (p.Leu110=) | |
| 1 | g.173914712C>G | CA421943062 | SERPINC1 | c.249G>C (p.Leu83=) n.475G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914712C>T | CA421943061 | SERPINC1 | c.249G>A (p.Leu83=) n.475G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) | |
| 1 | g.173914713A>C | CA343777787 | SERPINC1 | c.248T>G (p.Leu83Arg) n.474T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) | |
| 1 | g.173914713A>G | CA343777789 | SERPINC1 | c.248T>C (p.Leu83Pro) n.474T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) | |
| 1 | g.173914713A>T | CA343777791 | SERPINC1 | c.248T>A (p.Leu83Gln) n.474T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) | |
| 1 | g.173914714G>A | CA421943064 | SERPINC1 | c.247C>T (p.Leu83=) n.473C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) | |
| 1 | g.173914714G>C | CA343777792 | SERPINC1 | c.247C>G (p.Leu83Val) n.473C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) | |
| 1 | g.173914714G>T | CA343777793 | SERPINC1 | c.247C>A (p.Leu83Met) n.473C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) | |
| 1 | g.173914715T>A | CA343777795 | SERPINC1 | c.246A>T (p.Glu82Asp) n.472A>T c.102A>T (p.Glu34Asp) c.327A>T (p.Glu109Asp) | |
| 1 | g.173914715T>C | CA421943065 | SERPINC1 | c.246A>G (p.Glu82=) n.472A>G c.102A>G (p.Glu34=) c.327A>G (p.Glu109=) | dbSNP gnomAD v4 |
| 1 | g.173914715T>G | CA343777797 | SERPINC1 | c.246A>C (p.Glu82Asp) n.472A>C c.102A>C (p.Glu34Asp) c.327A>C (p.Glu109Asp) | |
| 1 | g.173914715T= | CA1207938962 | SERPINC1 | c.246A= (p.Glu82=) n.472A= c.102A= (p.Glu34=) c.327A= (p.Glu109=) | |
| 1 | g.173914716T>A | CA343777799 | SERPINC1 | c.245A>T (p.Glu82Val) n.471A>T c.101A>T (p.Glu34Val) c.326A>T (p.Glu109Val) | |
| 1 | g.173914716T>C | CA343777803 | SERPINC1 | c.245A>G (p.Glu82Gly) n.471A>G c.101A>G (p.Glu34Gly) c.326A>G (p.Glu109Gly) | |
| 1 | g.173914716T>G | CA343777801 | SERPINC1 | c.245A>C (p.Glu82Ala) n.471A>C c.101A>C (p.Glu34Ala) c.326A>C (p.Glu109Ala) | |
| 1 | g.173914717C>A | CA343777805 | SERPINC1 | c.244G>T (p.Glu82Ter) n.470G>T c.100G>T (p.Glu34Ter) c.325G>T (p.Glu109Ter) | ClinVar dbSNP |
| 1 | g.173914717C= | CA1207938963 | SERPINC1 | c.244G= (p.Glu82=) n.470G= c.100G= (p.Glu34=) c.325G= (p.Glu109=) | |
| 1 | g.173914717C>G | CA343777808 | SERPINC1 | c.244G>C (p.Glu82Gln) n.470G>C c.100G>C (p.Glu34Gln) c.325G>C (p.Glu109Gln) | dbSNP |
| 1 | g.173914717C>T | CA343777809 | SERPINC1 | c.244G>A (p.Glu82Lys) n.470G>A c.100G>A (p.Glu34Lys) c.325G>A (p.Glu109Lys) | dbSNP gnomAD v4 |
| 1 | g.173914718C>A | CA343777811 | SERPINC1 | c.243G>T (p.Trp81Cys) n.469G>T c.99G>T (p.Trp33Cys) c.324G>T (p.Trp108Cys) | |
| 1 | g.173914718C>G | CA343777813 | SERPINC1 | c.243G>C (p.Trp81Cys) n.469G>C c.99G>C (p.Trp33Cys) c.324G>C (p.Trp108Cys) | |
| 1 | g.173914718C>T | CA343777815 | SERPINC1 | c.243G>A (p.Trp81Ter) n.469G>A c.99G>A (p.Trp33Ter) c.324G>A (p.Trp108Ter) | ClinVar |
| 1 | g.173914719C>A | CA343777816 | SERPINC1 | c.242G>T (p.Trp81Leu) n.468G>T c.98G>T (p.Trp33Leu) c.323G>T (p.Trp108Leu) | |
| 1 | g.173914719C>G | CA343777818 | SERPINC1 | c.242G>C (p.Trp81Ser) n.468G>C c.98G>C (p.Trp33Ser) c.323G>C (p.Trp108Ser) | |
| 1 | g.173914719C>T | CA343777820 | SERPINC1 | c.242G>A (p.Trp81Ter) n.468G>A c.98G>A (p.Trp33Ter) c.323G>A (p.Trp108Ter) | |
| 1 | g.173914720A>C | CA343777822 | SERPINC1 | c.241T>G (p.Trp81Gly) n.467T>G c.97T>G (p.Trp33Gly) c.322T>G (p.Trp108Gly) | |
| 1 | g.173914720A>G | CA343777824 | SERPINC1 | c.241T>C (p.Trp81Arg) n.467T>C c.97T>C (p.Trp33Arg) c.322T>C (p.Trp108Arg) | |
| 1 | g.173914720A>T | CA343777826 | SERPINC1 | c.241T>A (p.Trp81Arg) n.467T>A c.97T>A (p.Trp33Arg) c.322T>A (p.Trp108Arg) | |
| 1 | g.173914721G>A | CA421943070 | SERPINC1 | c.240C>T (p.Val80=) n.466C>T c.96C>T (p.Val32=) c.321C>T (p.Val107=) | ClinVar dbSNP |
| 1 | g.173914721G>C | CA421943071 | SERPINC1 | c.240C>G (p.Val80=) n.466C>G c.96C>G (p.Val32=) c.321C>G (p.Val107=) | |
| 1 | g.173914721G>T | CA421943072 | SERPINC1 | c.240C>A (p.Val80=) n.466C>A c.96C>A (p.Val32=) c.321C>A (p.Val107=) | |
| 1 | g.173914722A>C | CA343777830 | SERPINC1 | c.239T>G (p.Val80Gly) n.465T>G c.95T>G (p.Val32Gly) c.320T>G (p.Val107Gly) | |
| 1 | g.173914722A>G | CA343777829 | SERPINC1 | c.239T>C (p.Val80Ala) n.465T>C c.95T>C (p.Val32Ala) c.320T>C (p.Val107Ala) | |
| 1 | g.173914722A>T | CA343777827 | SERPINC1 | c.239T>A (p.Val80Asp) n.465T>A c.95T>A (p.Val32Asp) c.320T>A (p.Val107Asp) | |
| 1 | g.173914722dup | CA2582322135 | SERPINC1 | c.239dup (p.Trp81LeufsTer24) n.465dup c.95dup (p.Trp33LeufsTer24) c.320dup (p.Trp108LeufsTer24) | |
| 1 | g.173914722_173914725del | CA2586964442 | SERPINC1 | c.236_239del (p.Arg79ProfsTer?) n.462_465del c.92_95del (p.Arg31ProfsTer?) c.317_320del (p.Arg106ProfsTer?) | |
| 1 | g.173914723C>A | CA343777832 | SERPINC1 | c.238G>T (p.Val80Phe) n.464G>T c.94G>T (p.Val32Phe) c.319G>T (p.Val107Phe) | |
| 1 | g.173914723C>G | CA343777833 | SERPINC1 | c.238G>C (p.Val80Leu) n.464G>C c.94G>C (p.Val32Leu) c.319G>C (p.Val107Leu) | |
| 1 | g.173914723C>T | CA343777835 | SERPINC1 | c.238G>A (p.Val80Ile) n.464G>A c.94G>A (p.Val32Ile) c.319G>A (p.Val107Ile) | |
| 1 | g.173914724A= | CA1207938965 | SERPINC1 | c.237T= (p.Arg79=) n.463T= c.93T= (p.Arg31=) c.318T= (p.Arg106=) | |
| 1 | g.173914724A>C | CA421943073 | SERPINC1 | c.237T>G (p.Arg79=) n.463T>G c.93T>G (p.Arg31=) c.318T>G (p.Arg106=) | dbSNP |
| 1 | g.173914724A>G | CA32782271 | SERPINC1 | c.237T>C (p.Arg79=) n.463T>C c.93T>C (p.Arg31=) c.318T>C (p.Arg106=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914724A>T | CA421943074 | SERPINC1 | c.237T>A (p.Arg79=) n.463T>A c.93T>A (p.Arg31=) c.318T>A (p.Arg106=) | |
| 1 | g.173914724dup | CA2499214323 | SERPINC1 | c.237dup (p.Val80CysfsTer25) n.463dup c.93dup (p.Val32CysfsTer25) c.318dup (p.Val107CysfsTer25) | ClinVar dbSNP |
| 1 | g.173914724_173914732delinsACGCCGGTT | CA1207938964 | SERPINC1 | c.229_237delinsAACCGGCGT (p.Asn77=) n.455_463delinsAACCGGCGT c.85_93delinsAACCGGCGT (p.Asn29=) c.310_318delinsAACCGGCGT (p.Asn104=) | |
| 1 | g.173914725C>A | CA343777839 | SERPINC1 | c.236G>T (p.Arg79Leu) n.462G>T c.92G>T (p.Arg31Leu) c.317G>T (p.Arg106Leu) | COSMIC |
| 1 | g.173914725C= | CA1141581231 | SERPINC1 | c.236G= (p.Arg79=) n.462G= c.92G= (p.Arg31=) c.317G= (p.Arg106=) | |
| 1 | g.173914725C>G | CA343777840 | SERPINC1 | c.236G>C (p.Arg79Pro) n.462G>C c.92G>C (p.Arg31Pro) c.317G>C (p.Arg106Pro) | |
| 1 | g.173914725C>T | CA210758 | SERPINC1 | c.236G>A (p.Arg79His) n.462G>A c.92G>A (p.Arg31His) c.317G>A (p.Arg106His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914726_173914727del | CA2649174714 | SERPINC1 | c.235_236del (p.Arg79CysfsTer25) n.461_462del c.91_92del (p.Arg31CysfsTer25) c.316_317del (p.Arg106CysfsTer25) | gnomAD v4 |
| 1 | g.173914725_173914728dup | CA2579753954 | SERPINC1 | c.233_236dup (p.Val80AlafsTer26) n.459_462dup c.89_92dup (p.Val32AlafsTer26) c.314_317dup (p.Val107AlafsTer26) | |
| 1 | g.173914725_173914732delinsTCCC | CA32782275 | SERPINC1 | c.229_236delinsGGGA (p.Asn77GlyfsTer?) n.455_462delinsGGGA c.85_92delinsGGGA (p.Asn29GlyfsTer?) c.310_317delinsGGGA (p.Asn104GlyfsTer?) | dbSNP |
| 1 | g.173914725_173914732delinsCGCCGGTT | CA1143355585 | SERPINC1 | c.229_236delinsAACCGGCG (p.Asn77=) n.455_462delinsAACCGGCG c.85_92delinsAACCGGCG (p.Asn29=) c.310_317delinsAACCGGCG (p.Asn104=) | |
| 1 | g.173914726G>A | CA210748 | SERPINC1 | c.235C>T (p.Arg79Cys) n.461C>T c.91C>T (p.Arg31Cys) c.316C>T (p.Arg106Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914726G>C | CA343777843 | SERPINC1 | c.235C>G (p.Arg79Gly) n.461C>G c.91C>G (p.Arg31Gly) c.316C>G (p.Arg106Gly) | |
| 1 | g.173914726G= | CA1141581232 | SERPINC1 | c.235C= (p.Arg79=) n.461C= c.91C= (p.Arg31=) c.316C= (p.Arg106=) | |
| 1 | g.173914726G>T | CA210760 | SERPINC1 | c.235C>A (p.Arg79Ser) n.461C>A c.91C>A (p.Arg31Ser) c.316C>A (p.Arg106Ser) | ClinVar dbSNP |
| 1 | g.173914727C>A | CA421943076 | SERPINC1 | c.234G>T (p.Arg78=) n.460G>T c.90G>T (p.Arg30=) c.315G>T (p.Arg105=) | |
| 1 | g.173914727C= | CA1207938966 | SERPINC1 | c.234G= (p.Arg78=) n.460G= c.90G= (p.Arg30=) c.315G= (p.Arg105=) | |
| 1 | g.173914727C>G | CA421943077 | SERPINC1 | c.234G>C (p.Arg78=) n.460G>C c.90G>C (p.Arg30=) c.315G>C (p.Arg105=) | |
| 1 | g.173914727C>T | CA421943078 | SERPINC1 | c.234G>A (p.Arg78=) n.460G>A c.90G>A (p.Arg30=) c.315G>A (p.Arg105=) | dbSNP |
| 1 | g.173914727_173914728del | CA2582321194 | SERPINC1 | c.233_234del (p.Arg78ProfsTer26) n.459_460del c.89_90del (p.Arg30ProfsTer26) c.314_315del (p.Arg105ProfsTer26) | |
| 1 | g.173914728del | CA2582342979 | SERPINC1 | c.234del (p.Arg79ValfsTer?) n.460del c.90del (p.Arg31ValfsTer?) c.315del (p.Arg106ValfsTer?) | |
| 1 | g.173914728C>A | CA343777846 | SERPINC1 | c.233G>T (p.Arg78Leu) n.459G>T c.89G>T (p.Arg30Leu) c.314G>T (p.Arg105Leu) | |
| 1 | g.173914728C= | CA1207938967 | SERPINC1 | c.233G= (p.Arg78=) n.459G= c.89G= (p.Arg30=) c.314G= (p.Arg105=) | |
| 1 | g.173914728C>G | CA343777848 | SERPINC1 | c.233G>C (p.Arg78Pro) n.459G>C c.89G>C (p.Arg30Pro) c.314G>C (p.Arg105Pro) | |
| 1 | g.173914728C>T | CA1251448 | SERPINC1 | c.233G>A (p.Arg78Gln) n.459G>A c.89G>A (p.Arg30Gln) c.314G>A (p.Arg105Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914729G>A | CA1251449 | SERPINC1 | c.232C>T (p.Arg78Trp) n.458C>T c.88C>T (p.Arg30Trp) c.313C>T (p.Arg105Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914729G>C | CA343777851 | SERPINC1 | c.232C>G (p.Arg78Gly) n.458C>G c.88C>G (p.Arg30Gly) c.313C>G (p.Arg105Gly) | |
| 1 | g.173914729G= | CA1143979005 | SERPINC1 | c.232C= (p.Arg78=) n.458C= c.88C= (p.Arg30=) c.313C= (p.Arg105=) | |
| 1 | g.173914729G>T | CA421943079 | SERPINC1 | c.232C>A (p.Arg78=) n.458C>A c.88C>A (p.Arg30=) c.313C>A (p.Arg105=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914730del | CA2582342984 | SERPINC1 | c.232del (p.Arg78GlyfsTer?) n.458del c.88del (p.Arg30GlyfsTer?) c.313del (p.Arg105GlyfsTer?) | |
| 1 | g.173914730G>A | CA421943080 | SERPINC1 | c.231C>T (p.Asn77=) n.457C>T c.87C>T (p.Asn29=) c.312C>T (p.Asn104=) | gnomAD v4 |
| 1 | g.173914730G>C | CA343777853 | SERPINC1 | c.231C>G (p.Asn77Lys) n.457C>G c.87C>G (p.Asn29Lys) c.312C>G (p.Asn104Lys) | |
| 1 | g.173914730G>T | CA343777855 | SERPINC1 | c.231C>A (p.Asn77Lys) n.457C>A c.87C>A (p.Asn29Lys) c.312C>A (p.Asn104Lys) | |
| 1 | g.173914731T>A | CA343777857 | SERPINC1 | c.230A>T (p.Asn77Ile) n.456A>T c.86A>T (p.Asn29Ile) c.311A>T (p.Asn104Ile) | |
| 1 | g.173914731T>C | CA343777858 | SERPINC1 | c.230A>G (p.Asn77Ser) n.456A>G c.86A>G (p.Asn29Ser) c.311A>G (p.Asn104Ser) | |
| 1 | g.173914731T>G | CA343777860 | SERPINC1 | c.230A>C (p.Asn77Thr) n.456A>C c.86A>C (p.Asn29Thr) c.311A>C (p.Asn104Thr) | |
| 1 | g.173914732T>A | CA343777862 | SERPINC1 | c.229A>T (p.Asn77Tyr) n.455A>T c.85A>T (p.Asn29Tyr) c.310A>T (p.Asn104Tyr) | |
| 1 | g.173914732T>C | CA343777864 | SERPINC1 | c.229A>G (p.Asn77Asp) n.455A>G c.85A>G (p.Asn29Asp) c.310A>G (p.Asn104Asp) | dbSNP |
| 1 | g.173914732T>G | CA343777865 | SERPINC1 | c.229A>C (p.Asn77His) n.455A>C c.85A>C (p.Asn29His) c.310A>C (p.Asn104His) | gnomAD v4 |
| 1 | g.173914733G>A | CA421943081 | SERPINC1 | c.228C>T (p.Thr76=) n.454C>T c.84C>T (p.Thr28=) c.309C>T (p.Thr103=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914733G>C | CA421943083 | SERPINC1 | c.228C>G (p.Thr76=) n.454C>G c.84C>G (p.Thr28=) c.309C>G (p.Thr103=) | |
| 1 | g.173914733G= | CA1207938968 | SERPINC1 | c.228C= (p.Thr76=) n.454C= c.84C= (p.Thr28=) c.309C= (p.Thr103=) | |
| 1 | g.173914733G>T | CA421943082 | SERPINC1 | c.228C>A (p.Thr76=) n.454C>A c.84C>A (p.Thr28=) c.309C>A (p.Thr103=) | |
| 1 | g.173914734G>A | CA32782290 | SERPINC1 | c.227C>T (p.Thr76Ile) n.453C>T c.83C>T (p.Thr28Ile) c.308C>T (p.Thr103Ile) | dbSNP gnomAD v4 |
| 1 | g.173914734G>C | CA343777868 | SERPINC1 | c.227C>G (p.Thr76Ser) n.453C>G c.83C>G (p.Thr28Ser) c.308C>G (p.Thr103Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914734G= | CA1207938969 | SERPINC1 | c.227C= (p.Thr76=) n.453C= c.83C= (p.Thr28=) c.308C= (p.Thr103=) | |
| 1 | g.173914734G>T | CA343777870 | SERPINC1 | c.227C>A (p.Thr76Asn) n.453C>A c.83C>A (p.Thr28Asn) c.308C>A (p.Thr103Asn) | |
| 1 | g.173914735T>A | CA343777872 | SERPINC1 | c.226A>T (p.Thr76Ser) n.452A>T c.82A>T (p.Thr28Ser) c.307A>T (p.Thr103Ser) | |
| 1 | g.173914735T>C | CA343777875 | SERPINC1 | c.226A>G (p.Thr76Ala) n.452A>G c.82A>G (p.Thr28Ala) c.307A>G (p.Thr103Ala) | |
| 1 | g.173914735T>G | CA343777878 | SERPINC1 | c.226A>C (p.Thr76Pro) n.452A>C c.82A>C (p.Thr28Pro) c.307A>C (p.Thr103Pro) | |
| 1 | g.173914736G>A | CA421943084 | SERPINC1 | c.225C>T (p.Ala75=) n.451C>T c.81C>T (p.Ala27=) c.306C>T (p.Ala102=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914736G>C | CA421943085 | SERPINC1 | c.225C>G (p.Ala75=) n.451C>G c.81C>G (p.Ala27=) c.306C>G (p.Ala102=) | |
| 1 | g.173914736G= | CA1207938970 | SERPINC1 | c.225C= (p.Ala75=) n.451C= c.81C= (p.Ala27=) c.306C= (p.Ala102=) | |
| 1 | g.173914736G>T | CA421943086 | SERPINC1 | c.225C>A (p.Ala75=) n.451C>A c.81C>A (p.Ala27=) c.306C>A (p.Ala102=) | COSMIC |
| 1 | g.173914737G>A | CA343777884 | SERPINC1 | c.224C>T (p.Ala75Val) n.450C>T c.80C>T (p.Ala27Val) c.305C>T (p.Ala102Val) | |
| 1 | g.173914737G>C | CA343777882 | SERPINC1 | c.224C>G (p.Ala75Gly) n.450C>G c.80C>G (p.Ala27Gly) c.305C>G (p.Ala102Gly) | |
| 1 | g.173914737G>T | CA343777881 | SERPINC1 | c.224C>A (p.Ala75Asp) n.450C>A c.80C>A (p.Ala27Asp) c.305C>A (p.Ala102Asp) | |
| 1 | g.173914738C>A | CA343777887 | SERPINC1 | c.223G>T (p.Ala75Ser) n.449G>T c.79G>T (p.Ala27Ser) c.304G>T (p.Ala102Ser) | |
| 1 | g.173914738C= | CA1207938971 | SERPINC1 | c.223G= (p.Ala75=) n.449G= c.79G= (p.Ala27=) c.304G= (p.Ala102=) | |
| 1 | g.173914738C>G | CA343777890 | SERPINC1 | c.223G>C (p.Ala75Pro) n.449G>C c.79G>C (p.Ala27Pro) c.304G>C (p.Ala102Pro) | |
| 1 | g.173914738C>T | CA343777896 | SERPINC1 | c.223G>A (p.Ala75Thr) n.449G>A c.79G>A (p.Ala27Thr) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914739C>A | CA343777898 | SERPINC1 | c.222G>T (p.Glu74Asp) n.448G>T c.78G>T (p.Glu26Asp) c.303G>T (p.Glu101Asp) | |
| 1 | g.173914739C= | CA1207938972 | SERPINC1 | c.222G= (p.Glu74=) n.448G= c.78G= (p.Glu26=) c.303G= (p.Glu101=) | |
| 1 | g.173914739C>G | CA343777901 | SERPINC1 | c.222G>C (p.Glu74Asp) n.448G>C c.78G>C (p.Glu26Asp) c.303G>C (p.Glu101Asp) | |
| 1 | g.173914739C>T | CA421943087 | SERPINC1 | c.222G>A (p.Glu74=) n.448G>A c.78G>A (p.Glu26=) c.303G>A (p.Glu101=) | dbSNP |
| 1 | g.173914740T>A | CA343777905 | SERPINC1 | c.221A>T (p.Glu74Val) n.447A>T c.77A>T (p.Glu26Val) c.302A>T (p.Glu101Val) | |
| 1 | g.173914740T>C | CA343777907 | SERPINC1 | c.221A>G (p.Glu74Gly) n.447A>G c.77A>G (p.Glu26Gly) c.302A>G (p.Glu101Gly) | gnomAD v4 |
| 1 | g.173914740T>G | CA343777908 | SERPINC1 | c.221A>C (p.Glu74Ala) n.447A>C c.77A>C (p.Glu26Ala) c.302A>C (p.Glu101Ala) | |
| 1 | g.173914741C>A | CA343777911 | SERPINC1 | c.220G>T (p.Glu74Ter) n.446G>T c.76G>T (p.Glu26Ter) c.301G>T (p.Glu101Ter) | |
| 1 | g.173914741C>G | CA343777914 | SERPINC1 | c.220G>C (p.Glu74Gln) n.446G>C c.76G>C (p.Glu26Gln) c.301G>C (p.Glu101Gln) | |
| 1 | g.173914741C>T | CA343777916 | SERPINC1 | c.220G>A (p.Glu74Lys) n.446G>A c.76G>A (p.Glu26Lys) c.301G>A (p.Glu101Lys) | |
| 1 | g.173914742C>A | CA421943088 | SERPINC1 | c.219G>T (p.Pro73=) n.445G>T c.75G>T (p.Pro25=) c.300G>T (p.Pro100=) | dbSNP |
| 1 | g.173914742C= | CA1148335119 | SERPINC1 | c.219G= (p.Pro73=) n.445G= c.75G= (p.Pro25=) c.300G= (p.Pro100=) | |
| 1 | g.173914742C>G | CA32782293 | SERPINC1 | c.219G>C (p.Pro73=) n.445G>C c.75G>C (p.Pro25=) c.300G>C (p.Pro100=) | dbSNP |
| 1 | g.173914742C>T | CA1251450 | SERPINC1 | c.219G>A (p.Pro73=) n.445G>A c.75G>A (p.Pro25=) c.300G>A (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914743G>A | CA210756 | SERPINC1 | c.218C>T (p.Pro73Leu) n.444C>T c.74C>T (p.Pro25Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914743G>C | CA343777922 | SERPINC1 | c.218C>G (p.Pro73Arg) n.444C>G c.74C>G (p.Pro25Arg) c.299C>G (p.Pro100Arg) | gnomAD v4 |
| 1 | g.173914743G= | CA1141581235 | SERPINC1 | c.218C= (p.Pro73=) n.444C= c.74C= (p.Pro25=) c.299C= (p.Pro100=) | |
| 1 | g.173914743G>T | CA343777921 | SERPINC1 | c.218C>A (p.Pro73Gln) n.444C>A c.74C>A (p.Pro25Gln) c.299C>A (p.Pro100Gln) | |
| 1 | g.173914744G>A | CA343777930 | SERPINC1 | c.217C>T (p.Pro73Ser) n.443C>T c.73C>T (p.Pro25Ser) c.298C>T (p.Pro100Ser) | gnomAD v4 COSMIC |
| 1 | g.173914744G>C | CA343777929 | SERPINC1 | c.217C>G (p.Pro73Ala) n.443C>G c.73C>G (p.Pro25Ala) c.298C>G (p.Pro100Ala) | |
| 1 | g.173914744G>T | CA343777931 | SERPINC1 | c.217C>A (p.Pro73Thr) n.443C>A c.73C>A (p.Pro25Thr) c.298C>A (p.Pro100Thr) | |
| 1 | g.173914745G>A | CA421943089 | SERPINC1 | c.216C>T (p.Ile72=) n.442C>T c.72C>T (p.Ile24=) c.297C>T (p.Ile99=) | dbSNP gnomAD v4 |
| 1 | g.173914745G>C | CA343777932 | SERPINC1 | c.216C>G (p.Ile72Met) n.442C>G c.72C>G (p.Ile24Met) c.297C>G (p.Ile99Met) | |
| 1 | g.173914745G= | CA1207938973 | SERPINC1 | c.216C= (p.Ile72=) n.442C= c.72C= (p.Ile24=) c.297C= (p.Ile99=) | |
| 1 | g.173914745G>T | CA421943090 | SERPINC1 | c.216C>A (p.Ile72=) n.442C>A c.72C>A (p.Ile24=) c.297C>A (p.Ile99=) | |
| 1 | g.173914746A>C | CA343777936 | SERPINC1 | c.215T>G (p.Ile72Ser) n.441T>G c.71T>G (p.Ile24Ser) c.296T>G (p.Ile99Ser) | |
| 1 | g.173914746A>G | CA343777938 | SERPINC1 | c.215T>C (p.Ile72Thr) n.441T>C c.71T>C (p.Ile24Thr) c.296T>C (p.Ile99Thr) | |
| 1 | g.173914746A>T | CA343777939 | SERPINC1 | c.215T>A (p.Ile72Asn) n.441T>A c.71T>A (p.Ile24Asn) c.296T>A (p.Ile99Asn) | gnomAD v4 |
| 1 | g.173914747T>A | CA343777941 | SERPINC1 | c.214A>T (p.Ile72Phe) n.440A>T c.70A>T (p.Ile24Phe) c.295A>T (p.Ile99Phe) | gnomAD v4 |
| 1 | g.173914747T>C | CA343777945 | SERPINC1 | c.214A>G (p.Ile72Val) n.440A>G c.70A>G (p.Ile24Val) c.295A>G (p.Ile99Val) | dbSNP |
| 1 | g.173914747T>G | CA343777948 | SERPINC1 | c.214A>C (p.Ile72Leu) n.440A>C c.70A>C (p.Ile24Leu) c.295A>C (p.Ile99Leu) | |
| 1 | g.173914747T= | CA1207938974 | SERPINC1 | c.214A= (p.Ile72=) n.440A= c.70A= (p.Ile24=) c.295A= (p.Ile99=) | |
| 1 | g.173914748C>A | CA343777951 | SERPINC1 | c.213G>T (p.Lys71Asn) n.439G>T c.69G>T (p.Lys23Asn) c.294G>T (p.Lys98Asn) | |
| 1 | g.173914748C= | CA1207938975 | SERPINC1 | c.213G= (p.Lys71=) n.439G= c.69G= (p.Lys23=) c.294G= (p.Lys98=) | |
| 1 | g.173914748C>G | CA343777953 | SERPINC1 | c.213G>C (p.Lys71Asn) n.439G>C c.69G>C (p.Lys23Asn) c.294G>C (p.Lys98Asn) | dbSNP |
| 1 | g.173914748C>T | CA421943091 | SERPINC1 | c.213G>A (p.Lys71=) n.439G>A c.69G>A (p.Lys23=) c.294G>A (p.Lys98=) | gnomAD v4 |
| 1 | g.173914749T>A | CA343777956 | SERPINC1 | c.212A>T (p.Lys71Met) n.438A>T c.68A>T (p.Lys23Met) c.293A>T (p.Lys98Met) | |
| 1 | g.173914749T>C | CA343777959 | SERPINC1 | c.212A>G (p.Lys71Arg) n.438A>G c.68A>G (p.Lys23Arg) c.293A>G (p.Lys98Arg) | |
| 1 | g.173914749T>G | CA343777962 | SERPINC1 | c.212A>C (p.Lys71Thr) n.438A>C c.68A>C (p.Lys23Thr) c.293A>C (p.Lys98Thr) | |
| 1 | g.173914750del | CA2579790313 | SERPINC1 | c.212del (p.Lys71ArgfsTer?) n.438del c.68del (p.Lys23ArgfsTer?) c.293del (p.Lys98ArgfsTer?) | |
| 1 | g.173914754_173914758del | CA2582342982 | SERPINC1 | c.208_212del (p.Gln70AspfsTer?) n.434_438del c.64_68del (p.Gln22AspfsTer?) c.289_293del (p.Gln97AspfsTer?) | |
| 1 | g.173914750T>A | CA32782294 | SERPINC1 | c.211A>T (p.Lys71Ter) n.437A>T c.67A>T (p.Lys23Ter) c.292A>T (p.Lys98Ter) | dbSNP |
| 1 | g.173914750T>C | CA343777974 | SERPINC1 | c.211A>G (p.Lys71Glu) n.437A>G c.67A>G (p.Lys23Glu) c.292A>G (p.Lys98Glu) | |
| 1 | g.173914750T>G | CA343777971 | SERPINC1 | c.211A>C (p.Lys71Gln) n.437A>C c.67A>C (p.Lys23Gln) c.292A>C (p.Lys98Gln) | gnomAD v4 |
| 1 | g.173914750T= | CA1143355586 | SERPINC1 | c.211A= (p.Lys71=) n.437A= c.67A= (p.Lys23=) c.292A= (p.Lys98=) | |
| 1 | g.173914751C>A | CA343777980 | SERPINC1 | c.210G>T (p.Gln70His) n.436G>T c.66G>T (p.Gln22His) c.291G>T (p.Gln97His) | |
| 1 | g.173914751C>G | CA343777981 | SERPINC1 | c.210G>C (p.Gln70His) n.436G>C c.66G>C (p.Gln22His) c.291G>C (p.Gln97His) | |
| 1 | g.173914751C>T | CA421943092 | SERPINC1 | c.210G>A (p.Gln70=) n.436G>A c.66G>A (p.Gln22=) c.291G>A (p.Gln97=) | |
| 1 | g.173914752T>A | CA343777985 | SERPINC1 | c.209A>T (p.Gln70Leu) n.435A>T c.65A>T (p.Gln22Leu) c.290A>T (p.Gln97Leu) | |
| 1 | g.173914752T>C | CA32782296 | SERPINC1 | c.209A>G (p.Gln70Arg) n.435A>G c.65A>G (p.Gln22Arg) c.290A>G (p.Gln97Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914752T>G | CA343777989 | SERPINC1 | c.209A>C (p.Gln70Pro) n.435A>C c.65A>C (p.Gln22Pro) c.290A>C (p.Gln97Pro) | |
| 1 | g.173914752T= | CA1207938976 | SERPINC1 | c.209A= (p.Gln70=) n.435A= c.65A= (p.Gln22=) c.290A= (p.Gln97=) | |
| 1 | g.173914753G>A | CA343777991 | SERPINC1 | c.208C>T (p.Gln70Ter) n.434C>T c.64C>T (p.Gln22Ter) c.289C>T (p.Gln97Ter) | |
| 1 | g.173914753G>C | CA343777993 | SERPINC1 | c.208C>G (p.Gln70Glu) n.434C>G c.64C>G (p.Gln22Glu) c.289C>G (p.Gln97Glu) | |
| 1 | g.173914753G>T | CA343777994 | SERPINC1 | c.208C>A (p.Gln70Lys) n.434C>A c.64C>A (p.Gln22Lys) c.289C>A (p.Gln97Lys) | |
| 1 | g.173914754T>A | CA343777996 | SERPINC1 | c.207A>T (p.Glu69Asp) n.433A>T c.63A>T (p.Glu21Asp) c.288A>T (p.Glu96Asp) | |
| 1 | g.173914754T>C | CA421943093 | SERPINC1 | c.207A>G (p.Glu69=) n.433A>G c.63A>G (p.Glu21=) c.288A>G (p.Glu96=) | dbSNP |
| 1 | g.173914754T>G | CA343777998 | SERPINC1 | c.207A>C (p.Glu69Asp) n.433A>C c.63A>C (p.Glu21Asp) c.288A>C (p.Glu96Asp) | |
| 1 | g.173914754T= | CA1207938977 | SERPINC1 | c.207A= (p.Glu69=) n.433A= c.63A= (p.Glu21=) c.288A= (p.Glu96=) | |
| 1 | g.173914755T>A | CA32782298 | SERPINC1 | c.206A>T (p.Glu69Val) n.432A>T c.62A>T (p.Glu21Val) c.287A>T (p.Glu96Val) | dbSNP gnomAD v4 |
| 1 | g.173914755T>C | CA1251451 | SERPINC1 | c.206A>G (p.Glu69Gly) n.432A>G c.62A>G (p.Glu21Gly) c.287A>G (p.Glu96Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173914755T>G | CA343778001 | SERPINC1 | c.206A>C (p.Glu69Ala) n.432A>C c.62A>C (p.Glu21Ala) c.287A>C (p.Glu96Ala) | |
| 1 | g.173914755T= | CA1144197612 | SERPINC1 | c.206A= (p.Glu69=) n.432A= c.62A= (p.Glu21=) c.287A= (p.Glu96=) | |
| 1 | g.173914756C>A | CA343778005 | SERPINC1 | c.205G>T (p.Glu69Ter) n.431G>T c.61G>T (p.Glu21Ter) c.286G>T (p.Glu96Ter) | ClinVar |
| 1 | g.173914756C>G | CA343778007 | SERPINC1 | c.205G>C (p.Glu69Gln) n.431G>C c.61G>C (p.Glu21Gln) c.286G>C (p.Glu96Gln) | |
| 1 | g.173914756C>T | CA343778003 | SERPINC1 | c.205G>A (p.Glu69Lys) n.431G>A c.61G>A (p.Glu21Lys) c.286G>A (p.Glu96Lys) | |
| 1 | g.173914757T>A | CA421943096 | SERPINC1 | c.204A>T (p.Ser68=) n.430A>T c.60A>T (p.Ser20=) c.285A>T (p.Ser95=) | |
| 1 | g.173914757T>C | CA421943094 | SERPINC1 | c.204A>G (p.Ser68=) n.430A>G c.60A>G (p.Ser20=) c.285A>G (p.Ser95=) | |
| 1 | g.173914757T>G | CA32782301 | SERPINC1 | c.204A>C (p.Ser68=) n.430A>C c.60A>C (p.Ser20=) c.285A>C (p.Ser95=) | dbSNP |
| 1 | g.173914757T= | CA1207938978 | SERPINC1 | c.204A= (p.Ser68=) n.430A= c.60A= (p.Ser20=) c.285A= (p.Ser95=) | |
| 1 | g.173914758G>A | CA343778009 | SERPINC1 | c.203C>T (p.Ser68Leu) n.429C>T c.59C>T (p.Ser20Leu) c.284C>T (p.Ser95Leu) | |
| 1 | g.173914758G>C | CA343778011 | SERPINC1 | c.203C>G (p.Ser68Ter) n.429C>G c.59C>G (p.Ser20Ter) c.284C>G (p.Ser95Ter) | COSMIC |
| 1 | g.173914758G>T | CA343778010 | SERPINC1 | c.203C>A (p.Ser68Ter) n.429C>A c.59C>A (p.Ser20Ter) c.284C>A (p.Ser95Ter) | |
| 1 | g.173914759A>C | CA343778013 | SERPINC1 | c.202T>G (p.Ser68Ala) n.428T>G c.58T>G (p.Ser20Ala) c.283T>G (p.Ser95Ala) | |
| 1 | g.173914759A>G | CA343778015 | SERPINC1 | c.202T>C (p.Ser68Pro) n.428T>C c.58T>C (p.Ser20Pro) c.283T>C (p.Ser95Pro) | |
| 1 | g.173914759A>T | CA343778017 | SERPINC1 | c.202T>A (p.Ser68Thr) n.428T>A c.58T>A (p.Ser20Thr) c.283T>A (p.Ser95Thr) | |
| 1 | g.173914760G>A | CA1251452 | SERPINC1 | c.201C>T (p.Gly67=) n.427C>T c.57C>T (p.Gly19=) c.282C>T (p.Gly94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914760G>C | CA421943101 | SERPINC1 | c.201C>G (p.Gly67=) n.427C>G c.57C>G (p.Gly19=) c.282C>G (p.Gly94=) | |
| 1 | g.173914760G= | CA1207938979 | SERPINC1 | c.201C= (p.Gly67=) n.427C= c.57C= (p.Gly19=) c.282C= (p.Gly94=) | |
| 1 | g.173914760G>T | CA421943099 | SERPINC1 | c.201C>A (p.Gly67=) n.427C>A c.57C>A (p.Gly19=) c.282C>A (p.Gly94=) | |
| 1 | g.173914761C>A | CA343778022 | SERPINC1 | c.200G>T (p.Gly67Val) n.426G>T c.56G>T (p.Gly19Val) c.281G>T (p.Gly94Val) | |
| 1 | g.173914761C= | CA1207938980 | SERPINC1 | c.200G= (p.Gly67=) n.426G= c.56G= (p.Gly19=) c.281G= (p.Gly94=) | |
| 1 | g.173914761C>G | CA343778023 | SERPINC1 | c.200G>C (p.Gly67Ala) n.426G>C c.56G>C (p.Gly19Ala) c.281G>C (p.Gly94Ala) | |
| 1 | g.173914761C>T | CA343778025 | SERPINC1 | c.200G>A (p.Gly67Asp) n.426G>A c.56G>A (p.Gly19Asp) c.281G>A (p.Gly94Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914762C>A | CA343778027 | SERPINC1 | c.199G>T (p.Gly67Cys) n.425G>T c.55G>T (p.Gly19Cys) c.280G>T (p.Gly94Cys) | |
| 1 | g.173914762C>G | CA343778029 | SERPINC1 | c.199G>C (p.Gly67Arg) n.425G>C c.55G>C (p.Gly19Arg) c.280G>C (p.Gly94Arg) | |
| 1 | g.173914762C>T | CA343778031 | SERPINC1 | c.199G>A (p.Gly67Ser) n.425G>A c.55G>A (p.Gly19Ser) c.280G>A (p.Gly94Ser) | |
| 1 | g.173914763C>A | CA343778032 | SERPINC1 | c.198G>T (p.Glu66Asp) n.424G>T c.54G>T (p.Glu18Asp) c.279G>T (p.Glu93Asp) | dbSNP |
| 1 | g.173914763C= | CA1207938981 | SERPINC1 | c.198G= (p.Glu66=) n.424G= c.54G= (p.Glu18=) c.279G= (p.Glu93=) | |
| 1 | g.173914763C>G | CA343778033 | SERPINC1 | c.198G>C (p.Glu66Asp) n.424G>C c.54G>C (p.Glu18Asp) c.279G>C (p.Glu93Asp) | |
| 1 | g.173914763C>T | CA421943107 | SERPINC1 | c.198G>A (p.Glu66=) n.424G>A c.54G>A (p.Glu18=) c.279G>A (p.Glu93=) | |
| 1 | g.173914764T>A | CA343778039 | SERPINC1 | c.197A>T (p.Glu66Val) n.423A>T c.53A>T (p.Glu18Val) c.278A>T (p.Glu93Val) | |
| 1 | g.173914764T>C | CA343778035 | SERPINC1 | c.197A>G (p.Glu66Gly) n.423A>G c.53A>G (p.Glu18Gly) c.278A>G (p.Glu93Gly) | |
| 1 | g.173914764T>G | CA343778037 | SERPINC1 | c.197A>C (p.Glu66Ala) n.423A>C c.53A>C (p.Glu18Ala) c.278A>C (p.Glu93Ala) | |
| 1 | g.173914765C>A | CA343778040 | SERPINC1 | c.196G>T (p.Glu66Ter) n.422G>T c.52G>T (p.Glu18Ter) c.277G>T (p.Glu93Ter) | |
| 1 | g.173914765C>G | CA343778042 | SERPINC1 | c.196G>C (p.Glu66Gln) n.422G>C c.52G>C (p.Glu18Gln) c.277G>C (p.Glu93Gln) | |
| 1 | g.173914765C>T | CA343778044 | SERPINC1 | c.196G>A (p.Glu66Lys) n.422G>A c.52G>A (p.Glu18Lys) c.277G>A (p.Glu93Lys) | |
| 1 | g.173914766A= | CA1207938982 | SERPINC1 | c.195T= (p.Asp65=) n.421T= c.51T= (p.Asp17=) c.276T= (p.Asp92=) | |
| 1 | g.173914766A>C | CA343778046 | SERPINC1 | c.195T>G (p.Asp65Glu) n.421T>G c.51T>G (p.Asp17Glu) c.276T>G (p.Asp92Glu) | dbSNP |
| 1 | g.173914766A>G | CA421943111 | SERPINC1 | c.195T>C (p.Asp65=) n.421T>C c.51T>C (p.Asp17=) c.276T>C (p.Asp92=) | |
| 1 | g.173914766A>T | CA343778047 | SERPINC1 | c.195T>A (p.Asp65Glu) n.421T>A c.51T>A (p.Asp17Glu) c.276T>A (p.Asp92Glu) | |
| 1 | g.173914767T>A | CA343778049 | SERPINC1 | c.194A>T (p.Asp65Val) n.420A>T c.50A>T (p.Asp17Val) c.275A>T (p.Asp92Val) | |
| 1 | g.173914767T>C | CA343778051 | SERPINC1 | c.194A>G (p.Asp65Gly) n.420A>G c.50A>G (p.Asp17Gly) c.275A>G (p.Asp92Gly) | |
| 1 | g.173914767T>G | CA343778052 | SERPINC1 | c.194A>C (p.Asp65Ala) n.420A>C c.50A>C (p.Asp17Ala) c.275A>C (p.Asp92Ala) | |
| 1 | g.173914768C>A | CA343778054 | SERPINC1 | c.193G>T (p.Asp65Tyr) n.419G>T c.49G>T (p.Asp17Tyr) c.274G>T (p.Asp92Tyr) | |
| 1 | g.173914768C= | CA1207938983 | SERPINC1 | c.193G= (p.Asp65=) n.419G= c.49G= (p.Asp17=) c.274G= (p.Asp92=) | |
| 1 | g.173914768C>G | CA343778055 | SERPINC1 | c.193G>C (p.Asp65His) n.419G>C c.49G>C (p.Asp17His) c.274G>C (p.Asp92His) | |
| 1 | g.173914768C>T | CA32782304 | SERPINC1 | c.193G>A (p.Asp65Asn) n.419G>A c.49G>A (p.Asp17Asn) c.274G>A (p.Asp92Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914769C>A | CA343778057 | SERPINC1 | c.192G>T (p.Glu64Asp) n.418G>T c.48G>T (p.Glu16Asp) c.273G>T (p.Glu91Asp) | |
| 1 | g.173914769C= | CA1207938984 | SERPINC1 | c.192G= (p.Glu64=) n.418G= c.48G= (p.Glu16=) c.273G= (p.Glu91=) | |
| 1 | g.173914769C>G | CA343778056 | SERPINC1 | c.192G>C (p.Glu64Asp) n.418G>C c.48G>C (p.Glu16Asp) c.273G>C (p.Glu91Asp) | |
| 1 | g.173914769C>T | CA421943117 | SERPINC1 | c.192G>A (p.Glu64=) n.418G>A c.48G>A (p.Glu16=) c.273G>A (p.Glu91=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914770T>A | CA343778058 | SERPINC1 | c.191A>T (p.Glu64Val) n.417A>T c.47A>T (p.Glu16Val) c.272A>T (p.Glu91Val) | |
| 1 | g.173914770T>C | CA343778060 | SERPINC1 | c.191A>G (p.Glu64Gly) n.417A>G c.47A>G (p.Glu16Gly) c.272A>G (p.Glu91Gly) | |
| 1 | g.173914770T>G | CA343778062 | SERPINC1 | c.191A>C (p.Glu64Ala) n.417A>C c.47A>C (p.Glu16Ala) c.272A>C (p.Glu91Ala) | |
| 1 | g.173914771C>A | CA343778063 | SERPINC1 | c.190G>T (p.Glu64Ter) n.416G>T c.46G>T (p.Glu16Ter) c.271G>T (p.Glu91Ter) | |
| 1 | g.173914771C>G | CA343778064 | SERPINC1 | c.190G>C (p.Glu64Gln) n.416G>C c.46G>C (p.Glu16Gln) c.271G>C (p.Glu91Gln) | |
| 1 | g.173914771C>T | CA343778066 | SERPINC1 | c.190G>A (p.Glu64Lys) n.416G>A c.46G>A (p.Glu16Lys) c.271G>A (p.Glu91Lys) | |
| 1 | g.173914772A= | CA1207938985 | SERPINC1 | c.189T= (p.Thr63=) n.415T= c.45T= (p.Thr15=) c.270T= (p.Thr90=) | |
| 1 | g.173914772A>C | CA421943123 | SERPINC1 | c.189T>G (p.Thr63=) n.415T>G c.45T>G (p.Thr15=) c.270T>G (p.Thr90=) | gnomAD v4 |
| 1 | g.173914772A>G | CA421943125 | SERPINC1 | c.189T>C (p.Thr63=) n.415T>C c.45T>C (p.Thr15=) c.270T>C (p.Thr90=) | dbSNP gnomAD v4 |
| 1 | g.173914772A>T | CA421943127 | SERPINC1 | c.189T>A (p.Thr63=) n.415T>A c.45T>A (p.Thr15=) c.270T>A (p.Thr90=) | |
| 1 | g.173914772dup | CA2649174715 | SERPINC1 | c.189dup (p.Glu64Ter) n.415dup c.45dup (p.Glu16Ter) c.270dup (p.Glu91Ter) | ClinVar gnomAD v4 |
| 1 | g.173914772_173914773insTT | CA2740097741 | SERPINC1 | c.188_189insAA (p.Glu64MetfsTer?) n.414_415insAA c.44_45insAA (p.Glu16MetfsTer?) c.269_270insAA (p.Glu91MetfsTer?) | |
| 1 | g.173914773G>A | CA343778071 | SERPINC1 | c.188C>T (p.Thr63Ile) n.414C>T c.44C>T (p.Thr15Ile) c.269C>T (p.Thr90Ile) | |
| 1 | g.173914773G>C | CA343778070 | SERPINC1 | c.188C>G (p.Thr63Ser) n.414C>G c.44C>G (p.Thr15Ser) c.269C>G (p.Thr90Ser) | |
| 1 | g.173914773G>T | CA343778068 | SERPINC1 | c.188C>A (p.Thr63Asn) n.414C>A c.44C>A (p.Thr15Asn) c.269C>A (p.Thr90Asn) | |
| 1 | g.173914774T>A | CA343778073 | SERPINC1 | c.187A>T (p.Thr63Ser) n.413A>T c.43A>T (p.Thr15Ser) c.268A>T (p.Thr90Ser) | |
| 1 | g.173914774T>C | CA343778075 | SERPINC1 | c.187A>G (p.Thr63Ala) n.413A>G c.43A>G (p.Thr15Ala) c.268A>G (p.Thr90Ala) | |
| 1 | g.173914774T>G | CA343778077 | SERPINC1 | c.187A>C (p.Thr63Pro) n.413A>C c.43A>C (p.Thr15Pro) c.268A>C (p.Thr90Pro) | |
| 1 | g.173914775T>A | CA421943133 | SERPINC1 | c.186A>T (p.Ala62=) n.412A>T c.42A>T (p.Ala14=) c.267A>T (p.Ala89=) | |
| 1 | g.173914775T>C | CA421943132 | SERPINC1 | c.186A>G (p.Ala62=) n.412A>G c.42A>G (p.Ala14=) c.267A>G (p.Ala89=) | |
| 1 | g.173914775T>G | CA421943131 | SERPINC1 | c.186A>C (p.Ala62=) n.412A>C c.42A>C (p.Ala14=) c.267A>C (p.Ala89=) | dbSNP |
| 1 | g.173914775T= | CA1207938986 | SERPINC1 | c.186A= (p.Ala62=) n.412A= c.42A= (p.Ala14=) c.267A= (p.Ala89=) | |
| 1 | g.173914776G>A | CA343778078 | SERPINC1 | c.185C>T (p.Ala62Val) n.411C>T c.41C>T (p.Ala14Val) c.266C>T (p.Ala89Val) | |
| 1 | g.173914776G>C | CA343778079 | SERPINC1 | c.185C>G (p.Ala62Gly) n.411C>G c.41C>G (p.Ala14Gly) c.266C>G (p.Ala89Gly) | |
| 1 | g.173914776G>T | CA343778081 | SERPINC1 | c.185C>A (p.Ala62Glu) n.411C>A c.41C>A (p.Ala14Glu) c.266C>A (p.Ala89Glu) |