| 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.173914795G>A | CA210772 | SERPINC1 | c.166C>T (p.Arg56Cys) n.392C>T c.22C>T (p.Arg8Cys) c.247C>T (p.Arg83Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914795G>C | CA343778153 | SERPINC1 | c.166C>G (p.Arg56Gly) n.392C>G c.22C>G (p.Arg8Gly) c.247C>G (p.Arg83Gly) | |
| 1 | g.173914795G= | CA1140495960 | SERPINC1 | c.166C= (p.Arg56=) n.392C= c.22C= (p.Arg8=) c.247C= (p.Arg83=) | |
| 1 | g.173914795G>T | CA343778155 | SERPINC1 | c.166C>A (p.Arg56Ser) n.392C>A c.22C>A (p.Arg8Ser) c.247C>A (p.Arg83Ser) | gnomAD v4 |
| 1 | g.173914796G>A | CA421943180 | SERPINC1 | c.165C>T (p.Tyr55=) n.391C>T c.21C>T (p.Tyr7=) c.246C>T (p.Tyr82=) | gnomAD v4 |
| 1 | g.173914796G>C | CA343778158 | SERPINC1 | c.165C>G (p.Tyr55Ter) n.391C>G c.21C>G (p.Tyr7Ter) c.246C>G (p.Tyr82Ter) | |
| 1 | g.173914796G>T | CA343778157 | SERPINC1 | c.165C>A (p.Tyr55Ter) n.391C>A c.21C>A (p.Tyr7Ter) c.246C>A (p.Tyr82Ter) | |
| 1 | g.173914797T>A | CA343778160 | SERPINC1 | c.164A>T (p.Tyr55Phe) n.390A>T c.20A>T (p.Tyr7Phe) c.245A>T (p.Tyr82Phe) | |
| 1 | g.173914797T>C | CA343778162 | SERPINC1 | c.164A>G (p.Tyr55Cys) n.390A>G c.20A>G (p.Tyr7Cys) c.245A>G (p.Tyr82Cys) | |
| 1 | g.173914797T>G | CA343778164 | SERPINC1 | c.164A>C (p.Tyr55Ser) n.390A>C c.20A>C (p.Tyr7Ser) c.245A>C (p.Tyr82Ser) | |
| 1 | g.173914798A= | CA1207938992 | SERPINC1 | c.163T= (p.Tyr55=) n.389T= c.19T= (p.Tyr7=) c.244T= (p.Tyr82=) | |
| 1 | g.173914798A>C | CA343778165 | SERPINC1 | c.163T>G (p.Tyr55Asp) n.389T>G c.19T>G (p.Tyr7Asp) c.244T>G (p.Tyr82Asp) | |
| 1 | g.173914798A>G | CA343778166 | SERPINC1 | c.163T>C (p.Tyr55His) n.389T>C c.19T>C (p.Tyr7His) c.244T>C (p.Tyr82His) | dbSNP |
| 1 | g.173914798A>T | CA343778168 | SERPINC1 | c.163T>A (p.Tyr55Asn) n.389T>A c.19T>A (p.Tyr7Asn) c.244T>A (p.Tyr82Asn) | |
| 1 | g.173914799A= | CA1207938993 | SERPINC1 | c.162T= (p.Ile54=) n.388T= c.18T= (p.Ile6=) c.243T= (p.Ile81=) | |
| 1 | g.173914799A>C | CA1251457 | SERPINC1 | c.162T>G (p.Ile54Met) n.388T>G c.18T>G (p.Ile6Met) c.243T>G (p.Ile81Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914799A>G | CA421943182 | SERPINC1 | c.162T>C (p.Ile54=) n.388T>C c.18T>C (p.Ile6=) c.243T>C (p.Ile81=) | |
| 1 | g.173914799A>T | CA421943184 | SERPINC1 | c.162T>A (p.Ile54=) n.388T>A c.18T>A (p.Ile6=) c.243T>A (p.Ile81=) | |
| 1 | g.173914800_173914806dup | CA2586964448 | SERPINC1 | c.156_162dup (p.Tyr55ValfsTer12) n.382_388dup c.12_18dup (p.Tyr7ValfsTer12) c.237_243dup (p.Tyr82ValfsTer12) | |
| 1 | g.173914800A>C | CA343778173 | SERPINC1 | c.161T>G (p.Ile54Ser) n.387T>G c.17T>G (p.Ile6Ser) c.242T>G (p.Ile81Ser) | |
| 1 | g.173914800A>G | CA343778170 | SERPINC1 | c.161T>C (p.Ile54Thr) n.387T>C c.17T>C (p.Ile6Thr) c.242T>C (p.Ile81Thr) | gnomAD v4 |
| 1 | g.173914800A>T | CA343778172 | SERPINC1 | c.161T>A (p.Ile54Asn) n.387T>A c.17T>A (p.Ile6Asn) c.242T>A (p.Ile81Asn) | |
| 1 | g.173914801T>A | CA343778175 | SERPINC1 | c.160A>T (p.Ile54Phe) n.386A>T c.16A>T (p.Ile6Phe) c.241A>T (p.Ile81Phe) | gnomAD v4 |
| 1 | g.173914801T>C | CA1251458 | SERPINC1 | c.160A>G (p.Ile54Val) n.386A>G c.16A>G (p.Ile6Val) c.241A>G (p.Ile81Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914801T>G | CA343778177 | SERPINC1 | c.160A>C (p.Ile54Leu) n.386A>C c.16A>C (p.Ile6Leu) c.241A>C (p.Ile81Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914801T= | CA1207938994 | SERPINC1 | c.160A= (p.Ile54=) n.386A= c.16A= (p.Ile6=) c.241A= (p.Ile81=) | |
| 1 | g.173914802G>A | CA421943187 | SERPINC1 | c.159C>T (p.Cys53=) n.385C>T c.15C>T (p.Cys5=) c.240C>T (p.Cys80=) | |
| 1 | g.173914802G>C | CA343778179 | SERPINC1 | c.159C>G (p.Cys53Trp) n.385C>G c.15C>G (p.Cys5Trp) c.240C>G (p.Cys80Trp) | |
| 1 | g.173914802G= | CA1207938995 | SERPINC1 | c.159C= (p.Cys53=) n.385C= c.15C= (p.Cys5=) c.240C= (p.Cys80=) | |
| 1 | g.173914802G>T | CA343778180 | SERPINC1 | c.159C>A (p.Cys53Ter) n.385C>A c.15C>A (p.Cys5Ter) c.240C>A (p.Cys80Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914803C>A | CA343778182 | SERPINC1 | c.158G>T (p.Cys53Phe) n.384G>T c.14G>T (p.Cys5Phe) c.239G>T (p.Cys80Phe) | |
| 1 | g.173914803C>G | CA343778186 | SERPINC1 | c.158G>C (p.Cys53Ser) n.384G>C c.14G>C (p.Cys5Ser) c.239G>C (p.Cys80Ser) | |
| 1 | g.173914803C>T | CA343778184 | SERPINC1 | c.158G>A (p.Cys53Tyr) n.384G>A c.14G>A (p.Cys5Tyr) c.239G>A (p.Cys80Tyr) | gnomAD v4 |
| 1 | g.173914804A>C | CA343778187 | SERPINC1 | c.157T>G (p.Cys53Gly) n.383T>G c.13T>G (p.Cys5Gly) c.238T>G (p.Cys80Gly) | gnomAD v4 |
| 1 | g.173914804A>G | CA343778189 | SERPINC1 | c.157T>C (p.Cys53Arg) n.383T>C c.13T>C (p.Cys5Arg) c.238T>C (p.Cys80Arg) | |
| 1 | g.173914804A>T | CA343778190 | SERPINC1 | c.157T>A (p.Cys53Ser) n.383T>A c.13T>A (p.Cys5Ser) c.238T>A (p.Cys80Ser) | |
| 1 | g.173914805C>A | CA343778192 | SERPINC1 | c.156G>T (p.Met52Ile) n.382G>T c.12G>T (p.Met4Ile) c.237G>T (p.Met79Ile) | |
| 1 | g.173914805C>G | CA343778193 | SERPINC1 | c.156G>C (p.Met52Ile) n.382G>C c.12G>C (p.Met4Ile) c.237G>C (p.Met79Ile) | gnomAD v4 |
| 1 | g.173914805C>T | CA343778195 | SERPINC1 | c.156G>A (p.Met52Ile) n.382G>A c.12G>A (p.Met4Ile) c.237G>A (p.Met79Ile) | gnomAD v4 |
| 1 | g.173914805_173914806delinsCA | CA1207938996 | SERPINC1 | c.155_156delinsTG (p.Met52=) n.381_382delinsTG c.11_12delinsTG (p.Met4=) c.236_237delinsTG (p.Met79=) | |
| 1 | g.173914806del | CA915943679 | SERPINC1 | c.155del (p.Met52SerfsTer?) n.381del c.11del (p.Met4SerfsTer?) c.236del (p.Met79SerfsTer?) | ClinVar dbSNP |
| 1 | g.173914806A= | CA1207938997 | SERPINC1 | c.155T= (p.Met52=) n.381T= c.11T= (p.Met4=) c.236T= (p.Met79=) | |
| 1 | g.173914806A>C | CA343778197 | SERPINC1 | c.155T>G (p.Met52Arg) n.381T>G c.11T>G (p.Met4Arg) c.236T>G (p.Met79Arg) | |
| 1 | g.173914806A>G | CA32782320 | SERPINC1 | c.155T>C (p.Met52Thr) n.381T>C c.11T>C (p.Met4Thr) c.236T>C (p.Met79Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |