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.173914793G>A | CA421943173 | SERPINC1 | c.168C>T (p.Arg56=) n.394C>T c.24C>T (p.Arg8=) c.249C>T (p.Arg83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914793G>C | CA421943174 | SERPINC1 | c.168C>G (p.Arg56=) n.394C>G c.24C>G (p.Arg8=) c.249C>G (p.Arg83=) | |
| 1 | g.173914793G= | CA1207938990 | SERPINC1 | c.168C= (p.Arg56=) n.394C= c.24C= (p.Arg8=) c.249C= (p.Arg83=) | |
| 1 | g.173914793G>T | CA421943175 | SERPINC1 | c.168C>A (p.Arg56=) n.394C>A c.24C>A (p.Arg8=) c.249C>A (p.Arg83=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914794C>A | CA343778148 | SERPINC1 | c.167G>T (p.Arg56Leu) n.393G>T c.23G>T (p.Arg8Leu) c.248G>T (p.Arg83Leu) | dbSNP |
| 1 | g.173914794C= | CA1207938991 | SERPINC1 | c.167G= (p.Arg56=) n.393G= c.23G= (p.Arg8=) c.248G= (p.Arg83=) | |
| 1 | g.173914794C>G | CA343778150 | SERPINC1 | c.167G>C (p.Arg56Pro) n.393G>C c.23G>C (p.Arg8Pro) c.248G>C (p.Arg83Pro) | gnomAD v4 |
| 1 | g.173914794C>T | CA1251456 | SERPINC1 | c.167G>A (p.Arg56His) n.393G>A c.23G>A (p.Arg8His) c.248G>A (p.Arg83His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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 |
| 1 | g.173914806A>T | CA343778199 | SERPINC1 | c.155T>A (p.Met52Lys) n.381T>A c.11T>A (p.Met4Lys) c.236T>A (p.Met79Lys) | |
| 1 | g.173914807T>A | CA343778200 | SERPINC1 | c.154A>T (p.Met52Leu) n.380A>T c.10A>T (p.Met4Leu) c.235A>T (p.Met79Leu) | dbSNP |
| 1 | g.173914807T>C | CA343778202 | SERPINC1 | c.154A>G (p.Met52Val) n.380A>G c.10A>G (p.Met4Val) c.235A>G (p.Met79Val) | gnomAD v4 |
| 1 | g.173914807T>G | CA343778204 | SERPINC1 | c.154A>C (p.Met52Leu) n.380A>C c.10A>C (p.Met4Leu) c.235A>C (p.Met79Leu) | |
| 1 | g.173914807T= | CA1207938998 | SERPINC1 | c.154A= (p.Met52=) n.380A= c.10A= (p.Met4=) c.235A= (p.Met79=) | |
| 1 | g.173914808G>A | CA421943193 | SERPINC1 | c.153C>T (p.Pro51=) n.379C>T c.9C>T (p.Pro3=) c.234C>T (p.Pro78=) | |
| 1 | g.173914808G>C | CA421943195 | SERPINC1 | c.153C>G (p.Pro51=) n.379C>G c.9C>G (p.Pro3=) c.234C>G (p.Pro78=) | |
| 1 | g.173914808G>T | CA421943194 | SERPINC1 | c.153C>A (p.Pro51=) n.379C>A c.9C>A (p.Pro3=) c.234C>A (p.Pro78=) | |
| 1 | g.173914809G>A | CA1251459 | SERPINC1 | c.152C>T (p.Pro51Leu) n.378C>T c.8C>T (p.Pro3Leu) c.233C>T (p.Pro78Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914809G>C | CA343778207 | SERPINC1 | c.152C>G (p.Pro51Arg) n.378C>G c.8C>G (p.Pro3Arg) c.233C>G (p.Pro78Arg) | |
| 1 | g.173914809G= | CA1148255635 | SERPINC1 | c.152C= (p.Pro51=) n.378C= c.8C= (p.Pro3=) c.233C= (p.Pro78=) | |
| 1 | g.173914809G>T | CA343778206 | SERPINC1 | c.152C>A (p.Pro51His) n.378C>A c.8C>A (p.Pro3His) c.233C>A (p.Pro78His) | |
| 1 | g.173914810G>A | CA343778208 | SERPINC1 | c.151C>T (p.Pro51Ser) n.377C>T c.7C>T (p.Pro3Ser) c.232C>T (p.Pro78Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914810G>C | CA343778210 | SERPINC1 | c.151C>G (p.Pro51Ala) n.377C>G c.7C>G (p.Pro3Ala) c.232C>G (p.Pro78Ala) | |
| 1 | g.173914810G= | CA1207938999 | SERPINC1 | c.151C= (p.Pro51=) n.377C= c.7C= (p.Pro3=) c.232C= (p.Pro78=) | |
| 1 | g.173914810G>T | CA343778212 | SERPINC1 | c.151C>A (p.Pro51Thr) n.377C>A c.7C>A (p.Pro3Thr) c.232C>A (p.Pro78Thr) | |
| 1 | g.173914811A>C | CA343778213 | SERPINC1 | c.150T>G (p.Asn50Lys) n.376T>G c.6T>G (p.Asn2Lys) c.231T>G (p.Asn77Lys) | |
| 1 | g.173914811A>G | CA421943198 | SERPINC1 | c.150T>C (p.Asn50=) n.376T>C c.6T>C (p.Asn2=) c.231T>C (p.Asn77=) | |
| 1 | g.173914811A>T | CA343778215 | SERPINC1 | c.150T>A (p.Asn50Lys) n.376T>A c.6T>A (p.Asn2Lys) c.231T>A (p.Asn77Lys) | |
| 1 | g.173914812T>A | CA343778220 | SERPINC1 | c.149A>T (p.Asn50Ile) n.375A>T c.5A>T (p.Asn2Ile) c.230A>T (p.Asn77Ile) | |
| 1 | g.173914812T>C | CA343778218 | SERPINC1 | c.149A>G (p.Asn50Ser) n.375A>G c.5A>G (p.Asn2Ser) c.230A>G (p.Asn77Ser) | |
| 1 | g.173914812T>G | CA343778217 | SERPINC1 | c.149A>C (p.Asn50Thr) n.375A>C c.5A>C (p.Asn2Thr) c.230A>C (p.Asn77Thr) | |
| 1 | g.173914813T>A | CA343778222 | SERPINC1 | c.148A>T (p.Asn50Tyr) n.374A>T c.4A>T (p.Asn2Tyr) c.229A>T (p.Asn77Tyr) | |
| 1 | g.173914813T>C | CA343778223 | SERPINC1 | c.148A>G (p.Asn50Asp) n.374A>G c.4A>G (p.Asn2Asp) c.229A>G (p.Asn77Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914813T>G | CA343778224 | SERPINC1 | c.148A>C (p.Asn50His) n.374A>C c.4A>C (p.Asn2His) c.229A>C (p.Asn77His) | |
| 1 | g.173914813T= | CA1207939000 | SERPINC1 | c.148A= (p.Asn50=) n.374A= c.4A= (p.Asn2=) c.229A= (p.Asn77=) | |
| 1 | g.173914814C>A | CA343778226 | SERPINC1 | c.147G>T (p.Met49Ile) n.373G>T c.3G>T (p.Met1Ile) c.228G>T (p.Met76Ile) | |
| 1 | g.173914814C>G | CA343778228 | SERPINC1 | c.147G>C (p.Met49Ile) n.373G>C c.3G>C (p.Met1Ile) c.228G>C (p.Met76Ile) | |
| 1 | g.173914814C>T | CA343778230 | SERPINC1 | c.147G>A (p.Met49Ile) n.373G>A c.3G>A (p.Met1Ile) c.228G>A (p.Met76Ile) | COSMIC |
| 1 | g.173914815A>C | CA343778235 | SERPINC1 | c.146T>G (p.Met49Arg) n.372T>G c.2T>G (p.Met1Arg) c.227T>G (p.Met76Arg) | |
| 1 | g.173914815A>G | CA343778231 | SERPINC1 | c.146T>C (p.Met49Thr) n.372T>C c.2T>C (p.Met1Thr) c.227T>C (p.Met76Thr) | |
| 1 | g.173914815A>T | CA343778233 | SERPINC1 | c.146T>A (p.Met49Lys) n.372T>A c.2T>A (p.Met1Lys) c.227T>A (p.Met76Lys) | |
| 1 | g.173914816T>A | CA343778237 | SERPINC1 | c.145A>T (p.Met49Leu) n.371A>T c.1A>T (p.Met1Leu) c.226A>T (p.Met76Leu) | |
| 1 | g.173914816T>C | CA343778238 | SERPINC1 | c.145A>G (p.Met49Val) n.371A>G c.1A>G (p.Met1Val) c.226A>G (p.Met76Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914816T>G | CA343778240 | SERPINC1 | c.145A>C (p.Met49Leu) n.371A>C c.1A>C (p.Met1Leu) c.226A>C (p.Met76Leu) | |
| 1 | g.173914816T= | CA1207939001 | SERPINC1 | c.145A= (p.Met49=) n.371A= c.1A= (p.Met1=) c.226A= (p.Met76=) | |
| 1 | g.173914817G>A | CA421943204 | SERPINC1 | c.144C>T (p.Pro48=) n.370C>T c.-1C>T (n.-1C>T) c.225C>T (p.Pro75=) | |
| 1 | g.173914817G>C | CA421943205 | SERPINC1 | c.144C>G (p.Pro48=) n.370C>G c.-1C>G (n.-1C>G) c.225C>G (p.Pro75=) | |
| 1 | g.173914817G>T | CA421943206 | SERPINC1 | c.144C>A (p.Pro48=) n.370C>A c.-1C>A (n.-1C>A) c.225C>A (p.Pro75=) | |
| 1 | g.173914817_173914819del | CA2582317457 | SERPINC1 | c.142_144del (p.Pro48del) n.368_370del c.-3_-1del (n.-3_-1del) c.223_225del (p.Pro75del) | |
| 1 | g.173914819del | CA2504258879 | SERPINC1 | c.144del (p.Met49Ter) n.370del c.-1del (n.-1del) c.225del (p.Met76Ter) | |
| 1 | g.173914818G>A | CA343778242 | SERPINC1 | c.143C>T (p.Pro48Leu) n.369C>T c.-2C>T (n.-2C>T) c.224C>T (p.Pro75Leu) | |
| 1 | g.173914818G>C | CA343778243 | SERPINC1 | c.143C>G (p.Pro48Arg) n.369C>G c.-2C>G (n.-2C>G) c.224C>G (p.Pro75Arg) | |
| 1 | g.173914818G= | CA1207939002 | SERPINC1 | c.143C= (p.Pro48=) n.369C= c.-2C= (n.-2C=) c.224C= (p.Pro75=) | |
| 1 | g.173914818G>T | CA343778244 | SERPINC1 | c.143C>A (p.Pro48His) n.369C>A c.-2C>A (n.-2C>A) c.224C>A (p.Pro75His) | dbSNP gnomAD v4 |
| 1 | g.173914819G>A | CA1251460 | SERPINC1 | c.142C>T (p.Pro48Ser) n.368C>T c.-3C>T (n.-3C>T) c.223C>T (p.Pro75Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173914819G>C | CA343778247 | SERPINC1 | c.142C>G (p.Pro48Ala) n.368C>G c.-3C>G (n.-3C>G) c.223C>G (p.Pro75Ala) | |
| 1 | g.173914819G= | CA1207939003 | SERPINC1 | c.142C= (p.Pro48=) n.368C= c.-3C= (n.-3C=) c.223C= (p.Pro75=) | |
| 1 | g.173914819G>T | CA343778249 | SERPINC1 | c.142C>A (p.Pro48Thr) n.368C>A c.-3C>A (n.-3C>A) c.223C>A (p.Pro75Thr) | |
| 1 | g.173914820A= | CA1207939004 | SERPINC1 | c.141T= (p.Ile47=) n.367T= c.-4T= (n.-4T=) c.222T= (p.Ile74=) | |
| 1 | g.173914820A>C | CA343778250 | SERPINC1 | c.141T>G (p.Ile47Met) n.367T>G c.-4T>G (n.-4T>G) c.222T>G (p.Ile74Met) | |
| 1 | g.173914820A>G | CA421943210 | SERPINC1 | c.141T>C (p.Ile47=) n.367T>C c.-4T>C (n.-4T>C) c.222T>C (p.Ile74=) | dbSNP |
| 1 | g.173914820A>T | CA421943209 | SERPINC1 | c.141T>A (p.Ile47=) n.367T>A c.-4T>A (n.-4T>A) c.222T>A (p.Ile74=) | |
| 1 | g.173914821A>C | CA343778252 | SERPINC1 | c.140T>G (p.Ile47Ser) n.366T>G c.-5T>G (n.-5T>G) c.221T>G (p.Ile74Ser) | |
| 1 | g.173914821A>G | CA343778254 | SERPINC1 | c.140T>C (p.Ile47Thr) n.366T>C c.-5T>C (n.-5T>C) c.221T>C (p.Ile74Thr) | gnomAD v4 |
| 1 | g.173914821A>T | CA343778255 | SERPINC1 | c.140T>A (p.Ile47Asn) n.366T>A c.-5T>A (n.-5T>A) c.221T>A (p.Ile74Asn) | |
| 1 | g.173914822T>A | CA343778256 | SERPINC1 | c.139A>T (p.Ile47Phe) n.365A>T c.-6A>T (n.-6A>T) c.220A>T (p.Ile74Phe) | |
| 1 | g.173914822T>C | CA343778259 | SERPINC1 | c.139A>G (p.Ile47Val) n.365A>G c.-6A>G (n.-6A>G) c.220A>G (p.Ile74Val) | |
| 1 | g.173914822T>G | CA343778258 | SERPINC1 | c.139A>C (p.Ile47Leu) n.365A>C c.-6A>C (n.-6A>C) c.220A>C (p.Ile74Leu) | |
| 1 | g.173914823G>A | CA1251461 | SERPINC1 | c.138C>T (p.Asp46=) n.364C>T c.-7C>T (n.-7C>T) c.219C>T (p.Asp73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914823G>C | CA343778262 | SERPINC1 | c.138C>G (p.Asp46Glu) n.364C>G c.-7C>G (n.-7C>G) c.219C>G (p.Asp73Glu) | |
| 1 | g.173914823G= | CA1207939005 | SERPINC1 | c.138C= (p.Asp46=) n.364C= c.-7C= (n.-7C=) c.219C= (p.Asp73=) | |
| 1 | g.173914823G>T | CA343778263 | SERPINC1 | c.138C>A (p.Asp46Glu) n.364C>A c.-7C>A (n.-7C>A) c.219C>A (p.Asp73Glu) | |
| 1 | g.173914824T>A | CA343778265 | SERPINC1 | c.137A>T (p.Asp46Val) n.363A>T c.-8A>T (n.-8A>T) c.218A>T (p.Asp73Val) | |
| 1 | g.173914824T>C | CA343778266 | SERPINC1 | c.137A>G (p.Asp46Gly) n.363A>G c.-8A>G (n.-8A>G) c.218A>G (p.Asp73Gly) | |
| 1 | g.173914824T>G | CA343778268 | SERPINC1 | c.137A>C (p.Asp46Ala) n.363A>C c.-8A>C (n.-8A>C) c.218A>C (p.Asp73Ala) | |
| 1 | g.173914825C>A | CA343778269 | SERPINC1 | c.136G>T (p.Asp46Tyr) n.362G>T c.-9G>T (n.-9G>T) c.217G>T (p.Asp73Tyr) | |
| 1 | g.173914825C= | CA1207939006 | SERPINC1 | c.136G= (p.Asp46=) n.362G= c.-9G= (n.-9G=) c.217G= (p.Asp73=) | |
| 1 | g.173914825C>G | CA343778271 | SERPINC1 | c.136G>C (p.Asp46His) n.362G>C c.-9G>C (n.-9G>C) c.217G>C (p.Asp73His) | |
| 1 | g.173914825C>T | CA343778272 | SERPINC1 | c.136G>A (p.Asp46Asn) n.362G>A c.-9G>A (n.-9G>A) c.217G>A (p.Asp73Asn) | dbSNP gnomAD v4 |
| 1 | g.173914826C>A | CA421943217 | SERPINC1 | c.135G>T (p.Arg45=) n.361G>T c.-10G>T (n.-10G>T) c.216G>T (p.Arg72=) | |
| 1 | g.173914826C= | CA1207939007 | SERPINC1 | c.135G= (p.Arg45=) n.361G= c.-10G= (n.-10G=) c.216G= (p.Arg72=) | |
| 1 | g.173914826C>G | CA421943218 | SERPINC1 | c.135G>C (p.Arg45=) n.361G>C c.-10G>C (n.-10G>C) c.216G>C (p.Arg72=) | |
| 1 | g.173914826C>T | CA421943219 | SERPINC1 | c.135G>A (p.Arg45=) n.361G>A c.-10G>A (n.-10G>A) c.216G>A (p.Arg72=) | dbSNP |
| 1 | g.173914827C>A | CA343778274 | SERPINC1 | c.134G>T (p.Arg45Leu) n.360G>T c.-11G>T (n.-11G>T) c.215G>T (p.Arg72Leu) | |
| 1 | g.173914827C= | CA1149108458 | SERPINC1 | c.134G= (p.Arg45=) n.360G= c.-11G= (n.-11G=) c.215G= (p.Arg72=) | |
| 1 | g.173914827C>G | CA343778276 | SERPINC1 | c.134G>C (p.Arg45Pro) n.360G>C c.-11G>C (n.-11G>C) c.215G>C (p.Arg72Pro) | |
| 1 | g.173914827C>T | CA1251462 | SERPINC1 | c.134G>A (p.Arg45Gln) n.360G>A c.-11G>A (n.-11G>A) c.215G>A (p.Arg72Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914828G>A | CA1251463 | SERPINC1 | c.133C>T (p.Arg45Trp) n.359C>T c.-12C>T (n.-12C>T) c.214C>T (p.Arg72Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914828G>C | CA343778278 | SERPINC1 | c.133C>G (p.Arg45Gly) n.359C>G c.-12C>G (n.-12C>G) c.214C>G (p.Arg72Gly) | |
| 1 | g.173914828G= | CA1207939008 | SERPINC1 | c.133C= (p.Arg45=) n.359C= c.-12C= (n.-12C=) c.214C= (p.Arg72=) | |
| 1 | g.173914828G>T | CA421943223 | SERPINC1 | c.133C>A (p.Arg45=) n.359C>A c.-12C>A (n.-12C>A) c.214C>A (p.Arg72=) | dbSNP gnomAD v4 |
| 1 | g.173914829C>A | CA421943225 | SERPINC1 | c.132G>T (p.Pro44=) n.358G>T c.-13G>T (n.-13G>T) c.213G>T (p.Pro71=) | dbSNP |
| 1 | g.173914829C= | CA1207939009 | SERPINC1 | c.132G= (p.Pro44=) n.358G= c.-13G= (n.-13G=) c.213G= (p.Pro71=) | |
| 1 | g.173914829C>G | CA421943226 | SERPINC1 | c.132G>C (p.Pro44=) n.358G>C c.-13G>C (n.-13G>C) c.213G>C (p.Pro71=) | dbSNP |
| 1 | g.173914829C>T | CA1251464 | SERPINC1 | c.132G>A (p.Pro44=) n.358G>A c.-13G>A (n.-13G>A) c.213G>A (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914830G>A | CA343778281 | SERPINC1 | c.131C>T (p.Pro44Leu) n.357C>T c.-14C>T (n.-14C>T) c.212C>T (p.Pro71Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914830G>C | CA343778282 | SERPINC1 | c.131C>G (p.Pro44Arg) n.357C>G c.-14C>G (n.-14C>G) c.212C>G (p.Pro71Arg) | |
| 1 | g.173914830G= | CA1207939010 | SERPINC1 | c.131C= (p.Pro44=) n.357C= c.-14C= (n.-14C=) c.212C= (p.Pro71=) | |
| 1 | g.173914830G>T | CA343778284 | SERPINC1 | c.131C>A (p.Pro44Gln) n.357C>A c.-14C>A (n.-14C>A) c.212C>A (p.Pro71Gln) | |
| 1 | g.173914831G>A | CA343778286 | SERPINC1 | c.130C>T (p.Pro44Ser) n.356C>T c.-15C>T (n.-15C>T) c.211C>T (p.Pro71Ser) | |
| 1 | g.173914831G>C | CA343778288 | SERPINC1 | c.130C>G (p.Pro44Ala) n.356C>G c.-15C>G (n.-15C>G) c.211C>G (p.Pro71Ala) | gnomAD v4 |
| 1 | g.173914831G>T | CA343778289 | SERPINC1 | c.130C>A (p.Pro44Thr) n.356C>A c.-15C>A (n.-15C>A) c.211C>A (p.Pro71Thr) | |
| 1 | g.173914832C>A | CA1251465 | SERPINC1 | c.129G>T (p.Lys43Asn) n.355G>T c.-16G>T (n.-16G>T) c.210G>T (p.Lys70Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173914832C= | CA1207939011 | SERPINC1 | c.129G= (p.Lys43=) n.355G= c.-16G= (n.-16G=) c.210G= (p.Lys70=) | |
| 1 | g.173914832C>G | CA343778291 | SERPINC1 | c.129G>C (p.Lys43Asn) n.355G>C c.-16G>C (n.-16G>C) c.210G>C (p.Lys70Asn) | |
| 1 | g.173914832C>T | CA421943231 | SERPINC1 | c.129G>A (p.Lys43=) n.355G>A c.-16G>A (n.-16G>A) c.210G>A (p.Lys70=) | |
| 1 | g.173914833T>A | CA343778293 | SERPINC1 | c.128A>T (p.Lys43Met) n.354A>T c.-17A>T (n.-17A>T) c.209A>T (p.Lys70Met) | |
| 1 | g.173914833T>C | CA343778295 | SERPINC1 | c.128A>G (p.Lys43Arg) n.354A>G c.-17A>G (n.-17A>G) c.209A>G (p.Lys70Arg) | |
| 1 | g.173914833T>G | CA343778296 | SERPINC1 | c.128A>C (p.Lys43Thr) n.354A>C c.-17A>C (n.-17A>C) c.209A>C (p.Lys70Thr) | |
| 1 | g.173914834T>A | CA343778297 | SERPINC1 | c.127A>T (p.Lys43Ter) n.353A>T c.-18A>T (n.-18A>T) c.208A>T (p.Lys70Ter) | |
| 1 | g.173914834T>C | CA343778300 | SERPINC1 | c.127A>G (p.Lys43Glu) n.353A>G c.-18A>G (n.-18A>G) c.208A>G (p.Lys70Glu) | |
| 1 | g.173914834T>G | CA343778299 | SERPINC1 | c.127A>C (p.Lys43Gln) n.353A>C c.-18A>C (n.-18A>C) c.208A>C (p.Lys70Gln) | |
| 1 | g.173914835G>A | CA32782336 | SERPINC1 | c.126C>T (p.Ala42=) n.352C>T c.-19C>T (n.-19C>T) c.207C>T (p.Ala69=) | dbSNP |
| 1 | g.173914835G>C | CA421943235 | SERPINC1 | c.126C>G (p.Ala42=) n.352C>G c.-19C>G (n.-19C>G) c.207C>G (p.Ala69=) | dbSNP |
| 1 | g.173914835G= | CA1207939012 | SERPINC1 | c.126C= (p.Ala42=) n.352C= c.-19C= (n.-19C=) c.207C= (p.Ala69=) | |
| 1 | g.173914835G>T | CA421943236 | SERPINC1 | c.126C>A (p.Ala42=) n.352C>A c.-19C>A (n.-19C>A) c.207C>A (p.Ala69=) | |
| 1 | g.173914836del | CA2739292069 | SERPINC1 | c.126del (p.Lys43SerfsTer7) n.352del c.-19del (n.-19del) c.207del (p.Lys70SerfsTer7) | |
| 1 | g.173914835_173914836insT | CA2580060333 | SERPINC1 | c.125_126insA (p.Lys43GlnfsTer22) n.351_352insA c.-20_-19insA (n.-20_-19insA) c.206_207insA (p.Lys70GlnfsTer22) | |
| 1 | g.173914836G>A | CA343778301 | SERPINC1 | c.125C>T (p.Ala42Val) n.351C>T c.-20C>T (n.-20C>T) c.206C>T (p.Ala69Val) | |
| 1 | g.173914836G>C | CA343778303 | SERPINC1 | c.125C>G (p.Ala42Gly) n.351C>G c.-20C>G (n.-20C>G) c.206C>G (p.Ala69Gly) | dbSNP |
| 1 | g.173914836G= | CA1207939013 | SERPINC1 | c.125C= (p.Ala42=) n.351C= c.-20C= (n.-20C=) c.206C= (p.Ala69=) | |
| 1 | g.173914836G>T | CA343778305 | SERPINC1 | c.125C>A (p.Ala42Asp) n.351C>A c.-20C>A (n.-20C>A) c.206C>A (p.Ala69Asp) | gnomAD v4 |
| 1 | g.173914837C>A | CA343778307 | SERPINC1 | c.124G>T (p.Ala42Ser) n.350G>T c.-21G>T (n.-21G>T) c.205G>T (p.Ala69Ser) | |
| 1 | g.173914837C>G | CA343778308 | SERPINC1 | c.124G>C (p.Ala42Pro) n.350G>C c.-21G>C (n.-21G>C) c.205G>C (p.Ala69Pro) | |
| 1 | g.173914837C>T | CA343778310 | SERPINC1 | c.124G>A (p.Ala42Thr) n.350G>A c.-21G>A (n.-21G>A) c.205G>A (p.Ala69Thr) | |
| 1 | g.173914837_173914845delinsCTGTGCAGA | CA1207939014 | SERPINC1 | c.116_124delinsTCTGCACAG (p.Ile39=) n.342_350delinsTCTGCACAG c.-29_-21delinsTCTGCACAG (n.-29_-21delinsTCTGCACAG) c.197_205delinsTCTGCACAG (p.Ile66=) | |
| 1 | g.173914838T>A | CA421943237 | SERPINC1 | c.123A>T (p.Thr41=) n.349A>T c.-22A>T (n.-22A>T) c.204A>T (p.Thr68=) | |
| 1 | g.173914838T>C | CA421943238 | SERPINC1 | c.123A>G (p.Thr41=) n.349A>G c.-22A>G (n.-22A>G) c.204A>G (p.Thr68=) | |
| 1 | g.173914838T>G | CA421943239 | SERPINC1 | c.123A>C (p.Thr41=) n.349A>C c.-22A>C (n.-22A>C) c.204A>C (p.Thr68=) | |
| 1 | g.173914838_173914848delinsTGTGCAGATGT | CA1144233217 | SERPINC1 | c.113_123delinsACATCTGCACA (p.Asp38=) n.339_349delinsACATCTGCACA c.-32_-22delinsACATCTGCACA (n.-32_-22delinsACATCTGCACA) c.194_204delinsACATCTGCACA (p.Asp65=) | |
| 1 | g.173914841_173914848del | CA150674 | SERPINC1 | c.116_123del (p.Ile39SerfsTer23) n.342_349del c.-29_-22del (n.-29_-22del) c.197_204del (p.Ile66SerfsTer23) | ClinVar dbSNP |
| 1 | g.173914839G>A | CA343778316 | SERPINC1 | c.122C>T (p.Thr41Ile) n.348C>T c.-23C>T (n.-23C>T) c.203C>T (p.Thr68Ile) | dbSNP |
| 1 | g.173914839G>C | CA343778313 | SERPINC1 | c.122C>G (p.Thr41Arg) n.348C>G c.-23C>G (n.-23C>G) c.203C>G (p.Thr68Arg) | |
| 1 | g.173914839G= | CA1207939015 | SERPINC1 | c.122C= (p.Thr41=) n.348C= c.-23C= (n.-23C=) c.203C= (p.Thr68=) | |
| 1 | g.173914839G>T | CA343778314 | SERPINC1 | c.122C>A (p.Thr41Lys) n.348C>A c.-23C>A (n.-23C>A) c.203C>A (p.Thr68Lys) | |
| 1 | g.173914840T>A | CA343778318 | SERPINC1 | c.121A>T (p.Thr41Ser) n.347A>T c.-24A>T (n.-24A>T) c.202A>T (p.Thr68Ser) | |
| 1 | g.173914840T>C | CA343778319 | SERPINC1 | c.121A>G (p.Thr41Ala) n.347A>G c.-24A>G (n.-24A>G) c.202A>G (p.Thr68Ala) | |
| 1 | g.173914840T>G | CA343778320 | SERPINC1 | c.121A>C (p.Thr41Pro) n.347A>C c.-24A>C (n.-24A>C) c.202A>C (p.Thr68Pro) | |
| 1 | g.173914841G>A | CA421943241 | SERPINC1 | c.120C>T (p.Cys40=) n.346C>T c.-25C>T (n.-25C>T) c.201C>T (p.Cys67=) | dbSNP gnomAD v4 |
| 1 | g.173914841G>C | CA343778322 | SERPINC1 | c.120C>G (p.Cys40Trp) n.346C>G c.-25C>G (n.-25C>G) c.201C>G (p.Cys67Trp) | |
| 1 | g.173914841G= | CA1207939016 | SERPINC1 | c.120C= (p.Cys40=) n.346C= c.-25C= (n.-25C=) c.201C= (p.Cys67=) | |
| 1 | g.173914841G>T | CA343778324 | SERPINC1 | c.120C>A (p.Cys40Ter) n.346C>A c.-25C>A (n.-25C>A) c.201C>A (p.Cys67Ter) | |
| 1 | g.173914842C>A | CA343778326 | SERPINC1 | c.119G>T (p.Cys40Phe) n.345G>T c.-26G>T (n.-26G>T) c.200G>T (p.Cys67Phe) | |
| 1 | g.173914842C>G | CA343778329 | SERPINC1 | c.119G>C (p.Cys40Ser) n.345G>C c.-26G>C (n.-26G>C) c.200G>C (p.Cys67Ser) | |
| 1 | g.173914842C>T | CA343778327 | SERPINC1 | c.119G>A (p.Cys40Tyr) n.345G>A c.-26G>A (n.-26G>A) c.200G>A (p.Cys67Tyr) | |
| 1 | g.173914842dup | CA2582299832 | SERPINC1 | c.119dup (p.Cys40TrpfsTer25) n.345dup c.-26dup (n.-26dup) c.200dup (p.Cys67TrpfsTer25) | |
| 1 | g.173914843A= | CA1207939017 | SERPINC1 | c.118T= (p.Cys40=) n.344T= c.-27T= (n.-27T=) c.199T= (p.Cys67=) | |
| 1 | g.173914843A>C | CA343778331 | SERPINC1 | c.118T>G (p.Cys40Gly) n.344T>G c.-27T>G (n.-27T>G) c.199T>G (p.Cys67Gly) | |
| 1 | g.173914843A>G | CA343778333 | SERPINC1 | c.118T>C (p.Cys40Arg) n.344T>C c.-27T>C (n.-27T>C) c.199T>C (p.Cys67Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914843A>T | CA343778334 | SERPINC1 | c.118T>A (p.Cys40Ser) n.344T>A c.-27T>A (n.-27T>A) c.199T>A (p.Cys67Ser) | |
| 1 | g.173914844G>A | CA421943242 | SERPINC1 | c.117C>T (p.Ile39=) n.343C>T c.-28C>T (n.-28C>T) c.198C>T (p.Ile66=) | |
| 1 | g.173914844G>C | CA343778336 | SERPINC1 | c.117C>G (p.Ile39Met) n.343C>G c.-28C>G (n.-28C>G) c.198C>G (p.Ile66Met) | |
| 1 | g.173914844G>T | CA421943243 | SERPINC1 | c.117C>A (p.Ile39=) n.343C>A c.-28C>A (n.-28C>A) c.198C>A (p.Ile66=) | |
| 1 | g.173914845A= | CA1141581238 | SERPINC1 | c.116T= (p.Ile39=) n.342T= c.-29T= (n.-29T=) c.197T= (p.Ile66=) | |
| 1 | g.173914845A>C | CA343778338 | SERPINC1 | c.116T>G (p.Ile39Ser) n.342T>G c.-29T>G (n.-29T>G) c.197T>G (p.Ile66Ser) | |
| 1 | g.173914845A>G | CA343778339 | SERPINC1 | c.116T>C (p.Ile39Thr) n.342T>C c.-29T>C (n.-29T>C) c.197T>C (p.Ile66Thr) | ClinVar dbSNP |
| 1 | g.173914845A>T | CA210770 | SERPINC1 | c.116T>A (p.Ile39Asn) n.342T>A c.-29T>A (n.-29T>A) c.197T>A (p.Ile66Asn) | ClinVar dbSNP |
| 1 | g.173914846T>A | CA343778341 | SERPINC1 | c.115A>T (p.Ile39Phe) n.341A>T c.-30A>T (n.-30A>T) c.196A>T (p.Ile66Phe) | |
| 1 | g.173914846T>C | CA343778343 | SERPINC1 | c.115A>G (p.Ile39Val) n.341A>G c.-30A>G (n.-30A>G) c.196A>G (p.Ile66Val) | gnomAD v4 |
| 1 | g.173914846T>G | CA343778344 | SERPINC1 | c.115A>C (p.Ile39Leu) n.341A>C c.-30A>C (n.-30A>C) c.196A>C (p.Ile66Leu) | dbSNP |
| 1 | g.173914846T= | CA1207939018 | SERPINC1 | c.115A= (p.Ile39=) n.341A= c.-30A= (n.-30A=) c.196A= (p.Ile66=) | |
| 1 | g.173914846dup | CA2586964449 | SERPINC1 | c.115dup (p.Ile39AsnfsTer26) n.341dup c.-30dup (n.-30dup) c.196dup (p.Ile66AsnfsTer26) | |
| 1 | g.173914847G>A | CA421943245 | SERPINC1 | c.114C>T (p.Asp38=) n.340C>T c.-31C>T (n.-31C>T) c.195C>T (p.Asp65=) | |
| 1 | g.173914847G>C | CA343778346 | SERPINC1 | c.114C>G (p.Asp38Glu) n.340C>G c.-31C>G (n.-31C>G) c.195C>G (p.Asp65Glu) | |
| 1 | g.173914847G>T | CA343778347 | SERPINC1 | c.114C>A (p.Asp38Glu) n.340C>A c.-31C>A (n.-31C>A) c.195C>A (p.Asp65Glu) | |
| 1 | g.173914847_173914849dup | CA1207939019 | SERPINC1 | c.112_114dup (p.Asp38_Ile39insAsp) n.338_340dup c.-33_-31dup (n.-33_-31dup) c.193_195dup (p.Asp65_Ile66insAsp) | dbSNP |
| 1 | g.173914848T>A | CA343778352 | SERPINC1 | c.113A>T (p.Asp38Val) n.339A>T c.-32A>T (n.-32A>T) c.194A>T (p.Asp65Val) | |
| 1 | g.173914848T>C | CA343778349 | SERPINC1 | c.113A>G (p.Asp38Gly) n.339A>G c.-32A>G (n.-32A>G) c.194A>G (p.Asp65Gly) | gnomAD v4 |
| 1 | g.173914848T>G | CA343778351 | SERPINC1 | c.113A>C (p.Asp38Ala) n.339A>C c.-32A>C (n.-32A>C) c.194A>C (p.Asp65Ala) | gnomAD v4 |
| 1 | g.173914849C>A | CA343778355 | SERPINC1 | c.112G>T (p.Asp38Tyr) n.338G>T c.-33G>T (n.-33G>T) c.193G>T (p.Asp65Tyr) | |
| 1 | g.173914849C= | CA1142074692 | SERPINC1 | c.112G= (p.Asp38=) n.338G= c.-33G= (n.-33G=) c.193G= (p.Asp65=) | |
| 1 | g.173914849C>G | CA343778357 | SERPINC1 | c.112G>C (p.Asp38His) n.338G>C c.-33G>C (n.-33G>C) c.193G>C (p.Asp65His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914849C>T | CA1251466 | SERPINC1 | c.112G>A (p.Asp38Asn) n.338G>A c.-33G>A (n.-33G>A) c.193G>A (p.Asp65Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914850del | CA2586964450 | SERPINC1 | c.112del (p.Asp38ThrfsTer12) n.338del c.-33del (n.-33del) c.193del (p.Asp65ThrfsTer12) | |
| 1 | g.173914850C>A | CA421943246 | SERPINC1 | c.111G>T (p.Val37=) n.337G>T c.-34G>T (n.-34G>T) c.192G>T (p.Val64=) | |
| 1 | g.173914850C= | CA1207939020 | SERPINC1 | c.111G= (p.Val37=) n.337G= c.-34G= (n.-34G=) c.192G= (p.Val64=) | |
| 1 | g.173914850C>G | CA421943248 | SERPINC1 | c.111G>C (p.Val37=) n.337G>C c.-34G>C (n.-34G>C) c.192G>C (p.Val64=) | |
| 1 | g.173914850C>T | CA421943247 | SERPINC1 | c.111G>A (p.Val37=) n.337G>A c.-34G>A (n.-34G>A) c.192G>A (p.Val64=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914851A= | CA1207939021 | SERPINC1 | c.110T= (p.Val37=) n.336T= c.-35T= (n.-35T=) c.191T= (p.Val64=) | |
| 1 | g.173914851A>C | CA343778358 | SERPINC1 | c.110T>G (p.Val37Gly) n.336T>G c.-35T>G (n.-35T>G) c.191T>G (p.Val64Gly) | dbSNP gnomAD v4 |
| 1 | g.173914851A>G | CA343778360 | SERPINC1 | c.110T>C (p.Val37Ala) n.336T>C c.-35T>C (n.-35T>C) c.191T>C (p.Val64Ala) | gnomAD v4 |
| 1 | g.173914851A>T | CA343778362 | SERPINC1 | c.110T>A (p.Val37Glu) n.336T>A c.-35T>A (n.-35T>A) c.191T>A (p.Val64Glu) | |
| 1 | g.173914852C>A | CA343778363 | SERPINC1 | c.109G>T (p.Val37Leu) n.335G>T c.-36G>T (n.-36G>T) c.190G>T (p.Val64Leu) | |
| 1 | g.173914852C>G | CA343778365 | SERPINC1 | c.109G>C (p.Val37Leu) n.335G>C c.-36G>C (n.-36G>C) c.190G>C (p.Val64Leu) | |
| 1 | g.173914852C>T | CA343778366 | SERPINC1 | c.109G>A (p.Val37Met) n.335G>A c.-36G>A (n.-36G>A) c.190G>A (p.Val64Met) | |
| 1 | g.173914853A>C | CA421943249 | SERPINC1 | c.108T>G (p.Pro36=) n.334T>G c.-37T>G (n.-37T>G) c.189T>G (p.Pro63=) | |
| 1 | g.173914853A>G | CA421943250 | SERPINC1 | c.108T>C (p.Pro36=) n.334T>C c.-37T>C (n.-37T>C) c.189T>C (p.Pro63=) | |
| 1 | g.173914853A>T | CA421943251 | SERPINC1 | c.108T>A (p.Pro36=) n.334T>A c.-37T>A (n.-37T>A) c.189T>A (p.Pro63=) | |
| 1 | g.173914854G>A | CA343778368 | SERPINC1 | c.107C>T (p.Pro36Leu) n.333C>T c.-38C>T (n.-38C>T) c.188C>T (p.Pro63Leu) | |
| 1 | g.173914854G>C | CA343778369 | SERPINC1 | c.107C>G (p.Pro36Arg) n.333C>G c.-38C>G (n.-38C>G) c.188C>G (p.Pro63Arg) | |
| 1 | g.173914854G>T | CA343778371 | SERPINC1 | c.107C>A (p.Pro36His) n.333C>A c.-38C>A (n.-38C>A) c.188C>A (p.Pro63His) | |
| 1 | g.173914855G>A | CA343778373 | SERPINC1 | c.106C>T (p.Pro36Ser) n.332C>T c.-39C>T (n.-39C>T) c.187C>T (p.Pro63Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914855G>C | CA343778374 | SERPINC1 | c.106C>G (p.Pro36Ala) n.332C>G c.-39C>G (n.-39C>G) c.187C>G (p.Pro63Ala) | |
| 1 | g.173914855G= | CA1207939022 | SERPINC1 | c.106C= (p.Pro36=) n.332C= c.-39C= (n.-39C=) c.187C= (p.Pro63=) | |
| 1 | g.173914855G>T | CA343778376 | SERPINC1 | c.106C>A (p.Pro36Thr) n.332C>A c.-39C>A (n.-39C>A) c.187C>A (p.Pro63Thr) | |
| 1 | g.173914856G>A | CA421943252 | SERPINC1 | c.105C>T (p.Ser35=) n.331C>T c.-40C>T (n.-40C>T) c.186C>T (p.Ser62=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173914856G>C | CA343778378 | SERPINC1 | c.105C>G (p.Ser35Arg) n.331C>G c.-40C>G (n.-40C>G) c.186C>G (p.Ser62Arg) | |
| 1 | g.173914856G= | CA1207939023 | SERPINC1 | c.105C= (p.Ser35=) n.331C= c.-40C= (n.-40C=) c.186C= (p.Ser62=) | |
| 1 | g.173914856G>T | CA343778380 | SERPINC1 | c.105C>A (p.Ser35Arg) n.331C>A c.-40C>A (n.-40C>A) c.186C>A (p.Ser62Arg) | |
| 1 | g.173914857C>A | CA343778381 | SERPINC1 | c.104G>T (p.Ser35Ile) n.330G>T c.-41G>T (n.-41G>T) c.185G>T (p.Ser62Ile) | |
| 1 | g.173914857C= | CA1207939024 | SERPINC1 | c.104G= (p.Ser35=) n.330G= c.-41G= (n.-41G=) c.185G= (p.Ser62=) | |
| 1 | g.173914857C>G | CA343778382 | SERPINC1 | c.104G>C (p.Ser35Thr) n.330G>C c.-41G>C (n.-41G>C) c.185G>C (p.Ser62Thr) | |
| 1 | g.173914857C>T | CA343778384 | SERPINC1 | c.104G>A (p.Ser35Asn) n.330G>A c.-41G>A (n.-41G>A) c.185G>A (p.Ser62Asn) | dbSNP |
| 1 | g.173914858T>A | CA343778386 | SERPINC1 | c.103A>T (p.Ser35Cys) n.329A>T c.-42A>T (n.-42A>T) c.184A>T (p.Ser62Cys) | |
| 1 | g.173914858T>C | CA343778388 | SERPINC1 | c.103A>G (p.Ser35Gly) n.329A>G c.-42A>G (n.-42A>G) c.184A>G (p.Ser62Gly) | |
| 1 | g.173914858T>G | CA343778390 | SERPINC1 | c.103A>C (p.Ser35Arg) n.329A>C c.-42A>C (n.-42A>C) c.184A>C (p.Ser62Arg) | |
| 1 | g.173914859C>A | CA421943253 | SERPINC1 | c.102G>T (p.Gly34=) n.328G>T c.-43G>T (n.-43G>T) c.183G>T (p.Gly61=) | |
| 1 | g.173914859C= | CA1207939025 | SERPINC1 | c.102G= (p.Gly34=) n.328G= c.-43G= (n.-43G=) c.183G= (p.Gly61=) | |
| 1 | g.173914859C>G | CA421943254 | SERPINC1 | c.102G>C (p.Gly34=) n.328G>C c.-43G>C (n.-43G>C) c.183G>C (p.Gly61=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173914859C>T | CA421943255 | SERPINC1 | c.102G>A (p.Gly34=) n.328G>A c.-43G>A (n.-43G>A) c.183G>A (p.Gly61=) | dbSNP |
| 1 | g.173914860C>A | CA343778392 | SERPINC1 | c.101G>T (p.Gly34Val) n.327G>T c.-44G>T (n.-44G>T) c.182G>T (p.Gly61Val) | |
| 1 | g.173914860C>G | CA343778394 | SERPINC1 | c.101G>C (p.Gly34Ala) n.327G>C c.-44G>C (n.-44G>C) c.182G>C (p.Gly61Ala) | |
| 1 | g.173914860C>T | CA343778395 | SERPINC1 | c.101G>A (p.Gly34Glu) n.327G>A c.-44G>A (n.-44G>A) c.182G>A (p.Gly61Glu) | |
| 1 | g.173914861C>A | CA343778397 | SERPINC1 | c.100G>T (p.Gly34Trp) n.326G>T c.-45G>T (n.-45G>T) c.181G>T (p.Gly61Trp) | |
| 1 | g.173914861C= | CA1207939026 | SERPINC1 | c.100G= (p.Gly34=) n.326G= c.-45G= (n.-45G=) c.181G= (p.Gly61=) | |
| 1 | g.173914861C>G | CA343778398 | SERPINC1 | c.100G>C (p.Gly34Arg) n.326G>C c.-45G>C (n.-45G>C) c.181G>C (p.Gly61Arg) | |
| 1 | g.173914861C>T | CA1251467 | SERPINC1 | c.100G>A (p.Gly34Arg) n.326G>A c.-45G>A (n.-45G>A) c.181G>A (p.Gly61Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914862G>A | CA1251468 | SERPINC1 | c.99C>T (p.His33=) n.325C>T c.-46C>T (n.-46C>T) c.180C>T (p.His60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914862G>C | CA343778401 | SERPINC1 | c.99C>G (p.His33Gln) n.325C>G c.-46C>G (n.-46C>G) c.180C>G (p.His60Gln) | |
| 1 | g.173914862G= | CA1142193613 | SERPINC1 | c.99C= (p.His33=) n.325C= c.-46C= (n.-46C=) c.180C= (p.His60=) | |
| 1 | g.173914862G>T | CA1251469 | SERPINC1 | c.99C>A (p.His33Gln) n.325C>A c.-46C>A (n.-46C>A) c.180C>A (p.His60Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173914863T>A | CA343778403 | SERPINC1 | c.98A>T (p.His33Leu) n.324A>T c.-47A>T (n.-47A>T) c.179A>T (p.His60Leu) | |
| 1 | g.173914863T>C | CA343778407 | SERPINC1 | c.98A>G (p.His33Arg) n.324A>G c.-47A>G (n.-47A>G) c.179A>G (p.His60Arg) | |
| 1 | g.173914863T>G | CA343778406 | SERPINC1 | c.98A>C (p.His33Pro) n.324A>C c.-47A>C (n.-47A>C) c.179A>C (p.His60Pro) | |
| 1 | g.173914863dup | CA2739275404 | SERPINC1 | c.98dup (p.His33GlnfsTer?) n.324dup c.-47dup (n.-47dup) c.179dup (p.His60GlnfsTer?) | ClinVar |
| 1 | g.173914864G>A | CA343778409 | SERPINC1 | c.97C>T (p.His33Tyr) n.323C>T c.-48C>T (n.-48C>T) c.178C>T (p.His60Tyr) | |
| 1 | g.173914864G>C | CA343778411 | SERPINC1 | c.97C>G (p.His33Asp) n.323C>G c.-48C>G (n.-48C>G) c.178C>G (p.His60Asp) | |
| 1 | g.173914864G>T | CA343778412 | SERPINC1 | c.97C>A (p.His33Asn) n.323C>A c.-48C>A (n.-48C>A) c.178C>A (p.His60Asn) | |
| 1 | g.173914865A= | CA1207939027 | SERPINC1 | c.96T= (p.Cys32=) n.322T= c.-49T= (n.-49T=) c.177T= (p.Cys59=) | |
| 1 | g.173914865A>C | CA343778414 | SERPINC1 | c.96T>G (p.Cys32Trp) n.322T>G c.-49T>G (n.-49T>G) c.177T>G (p.Cys59Trp) | |
| 1 | g.173914865A>G | CA421943256 | SERPINC1 | c.96T>C (p.Cys32=) n.322T>C c.-49T>C (n.-49T>C) c.177T>C (p.Cys59=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914865A>T | CA343778415 | SERPINC1 | c.96T>A (p.Cys32Ter) n.322T>A c.-49T>A (n.-49T>A) c.177T>A (p.Cys59Ter) | |
| 1 | g.173914866C>A | CA343778416 | SERPINC1 | c.95G>T (p.Cys32Phe) n.321G>T c.-50G>T (n.-50G>T) c.176G>T (p.Cys59Phe) | |
| 1 | g.173914866C>G | CA343778417 | SERPINC1 | c.95G>C (p.Cys32Ser) n.321G>C c.-50G>C (n.-50G>C) c.176G>C (p.Cys59Ser) | |
| 1 | g.173914866C>T | CA343778419 | SERPINC1 | c.95G>A (p.Cys32Tyr) n.321G>A c.-50G>A (n.-50G>A) c.176G>A (p.Cys59Tyr) | |
| 1 | g.173914866delinsGA | CA2582297545 | SERPINC1 | c.95delinsTC (p.Cys32PhefsTer?) n.321delinsTC c.-50delinsTC (n.-50delinsTC) c.176delinsTC (p.Cys59PhefsTer?) | |
| 1 | g.173914867A>C | CA343778421 | SERPINC1 | c.94T>G (p.Cys32Gly) n.320T>G c.-51T>G (n.-51T>G) c.175T>G (p.Cys59Gly) | |
| 1 | g.173914867A>G | CA343778423 | SERPINC1 | c.94T>C (p.Cys32Arg) n.320T>C c.-51T>C (n.-51T>C) c.175T>C (p.Cys59Arg) | |
| 1 | g.173914867A>T | CA343778424 | SERPINC1 | c.94T>A (p.Cys32Ser) n.320T>A c.-51T>A (n.-51T>A) c.175T>A (p.Cys59Ser) | |
| 1 | g.173914868G>A | CA421943257 | SERPINC1 | c.93C>T (p.Thr31=) n.319C>T c.-52C>T (n.-52C>T) c.174C>T (p.Thr58=) | dbSNP COSMIC |
| 1 | g.173914868G>C | CA421943258 | SERPINC1 | c.93C>G (p.Thr31=) n.319C>G c.-52C>G (n.-52C>G) c.174C>G (p.Thr58=) | |
| 1 | g.173914868G= | CA1207939028 | SERPINC1 | c.93C= (p.Thr31=) n.319C= c.-52C= (n.-52C=) c.174C= (p.Thr58=) | |
| 1 | g.173914868G>T | CA421943259 | SERPINC1 | c.93C>A (p.Thr31=) n.319C>A c.-52C>A (n.-52C>A) c.174C>A (p.Thr58=) | |
| 1 | g.173914869G>A | CA343778429 | SERPINC1 | c.92C>T (p.Thr31Ile) n.318C>T c.-53C>T (n.-53C>T) c.173C>T (p.Thr58Ile) | dbSNP gnomAD v4 |
| 1 | g.173914869G>C | CA343778428 | SERPINC1 | c.92C>G (p.Thr31Ser) n.318C>G c.-53C>G (n.-53C>G) c.173C>G (p.Thr58Ser) | |
| 1 | g.173914869G= | CA1207939029 | SERPINC1 | c.92C= (p.Thr31=) n.318C= c.-53C= (n.-53C=) c.173C= (p.Thr58=) | |
| 1 | g.173914869G>T | CA343778426 | SERPINC1 | c.92C>A (p.Thr31Asn) n.318C>A c.-53C>A (n.-53C>A) c.173C>A (p.Thr58Asn) | |
| 1 | g.173914870T>A | CA343778431 | SERPINC1 | c.91A>T (p.Thr31Ser) n.317A>T c.-54A>T (n.-54A>T) c.172A>T (p.Thr58Ser) | |
| 1 | g.173914870T>C | CA343778433 | SERPINC1 | c.91A>G (p.Thr31Ala) n.317A>G c.-54A>G (n.-54A>G) c.172A>G (p.Thr58Ala) | |
| 1 | g.173914870T>G | CA343778435 | SERPINC1 | c.91A>C (p.Thr31Pro) n.317A>C c.-54A>C (n.-54A>C) c.172A>C (p.Thr58Pro) | |
| 1 | g.173914870T= | CA1207939030 | SERPINC1 | c.91A= (p.Thr31=) n.317A= c.-54A= (n.-54A=) c.172A= (p.Thr58=) | |
| 1 | g.173914870_173914871insAG | CA1207939031 | SERPINC1 | c.90_91insCT (p.Thr31LeufsTer20) n.316_317insCT c.-55_-54insCT (n.-55_-54insCT) c.171_172insCT (p.Thr58LeufsTer20) | dbSNP |
| 1 | g.173914871C>A | CA421943264 | SERPINC1 | c.90G>T (p.Val30=) n.316G>T c.-55G>T (n.-55G>T) c.171G>T (p.Val57=) | |
| 1 | g.173914871C>G | CA421943262 | SERPINC1 | c.90G>C (p.Val30=) n.316G>C c.-55G>C (n.-55G>C) c.171G>C (p.Val57=) | |
| 1 | g.173914871C>T | CA421943261 | SERPINC1 | c.90G>A (p.Val30=) n.316G>A c.-55G>A (n.-55G>A) c.171G>A (p.Val57=) | gnomAD v4 |
| 1 | g.173914872A= | CA1139922000 | SERPINC1 | c.89T= (p.Val30=) n.315T= c.-56T= (n.-56T=) c.170T= (p.Val57=) | |
| 1 | g.173914872A>C | CA343778436 | SERPINC1 | c.89T>G (p.Val30Gly) n.315T>G c.-56T>G (n.-56T>G) c.170T>G (p.Val57Gly) | |
| 1 | g.173914872A>G | CA343778438 | SERPINC1 | c.89T>C (p.Val30Ala) n.315T>C c.-56T>C (n.-56T>C) c.170T>C (p.Val57Ala) | |
| 1 | g.173914872A>T | CA325653 | SERPINC1 | c.89T>A (p.Val30Glu) n.315T>A c.-56T>A (n.-56T>A) c.170T>A (p.Val57Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914872_173914874delinsACG | CA1207939032 | SERPINC1 | c.87_89delinsCGT (p.Cys29=) n.313_315delinsCGT c.-58_-56delinsCGT (n.-58_-56delinsCGT) c.168_170delinsCGT (p.Cys56=) | |
| 1 | g.173914873C>A | CA343778441 | SERPINC1 | c.88G>T (p.Val30Leu) n.314G>T c.-57G>T (n.-57G>T) c.169G>T (p.Val57Leu) | |
| 1 | g.173914873C= | CA1144663403 | SERPINC1 | c.88G= (p.Val30=) n.314G= c.-57G= (n.-57G=) c.169G= (p.Val57=) | |
| 1 | g.173914873C>G | CA343778442 | SERPINC1 | c.88G>C (p.Val30Leu) n.314G>C c.-57G>C (n.-57G>C) c.169G>C (p.Val57Leu) | |
| 1 | g.173914873C>T | CA1251470 | SERPINC1 | c.88G>A (p.Val30Met) n.314G>A c.-57G>A (n.-57G>A) c.169G>A (p.Val57Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914874_173914875del | CA1207939033 | SERPINC1 | c.87_88del (p.Val30AspfsTer?) n.313_314del c.-58_-57del (n.-58_-57del) c.168_169del (p.Val57AspfsTer?) | dbSNP |
| 1 | g.173914874G>A | CA1251471 | SERPINC1 | c.87C>T (p.Cys29=) n.313C>T c.-58C>T (n.-58C>T) c.168C>T (p.Cys56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914874G>C | CA343778446 | SERPINC1 | c.87C>G (p.Cys29Trp) n.313C>G c.-58C>G (n.-58C>G) c.168C>G (p.Cys56Trp) | gnomAD v4 |
| 1 | g.173914874G= | CA1142983868 | SERPINC1 | c.87C= (p.Cys29=) n.313C= c.-58C= (n.-58C=) c.168C= (p.Cys56=) | |
| 1 | g.173914874G>T | CA343778447 | SERPINC1 | c.87C>A (p.Cys29Ter) n.313C>A c.-58C>A (n.-58C>A) c.168C>A (p.Cys56Ter) | |
| 1 | g.173914874_173914875delinsAG | CA2580060354 | SERPINC1 | c.86_87delinsCT (p.Cys29Ser) n.312_313delinsCT c.-59_-58delinsCT (n.-59_-58delinsCT) c.167_168delinsCT (p.Cys56Ser) | |
| 1 | g.173914875C>A | CA343778452 | SERPINC1 | c.86G>T (p.Cys29Phe) n.312G>T c.-59G>T (n.-59G>T) c.167G>T (p.Cys56Phe) | |
| 1 | g.173914875C= | CA1207939034 | SERPINC1 | c.86G= (p.Cys29=) n.312G= c.-59G= (n.-59G=) c.167G= (p.Cys56=) | |
| 1 | g.173914875C>G | CA343778451 | SERPINC1 | c.86G>C (p.Cys29Ser) n.312G>C c.-59G>C (n.-59G>C) c.167G>C (p.Cys56Ser) | dbSNP |
| 1 | g.173914875C>T | CA343778449 | SERPINC1 | c.86G>A (p.Cys29Tyr) n.312G>A c.-59G>A (n.-59G>A) c.167G>A (p.Cys56Tyr) | |
| 1 | g.173914876A= | CA1207939035 | SERPINC1 | c.85T= (p.Cys29=) n.311T= c.-60T= (n.-60T=) c.166T= (p.Cys56=) | |
| 1 | g.173914876A>C | CA343778458 | SERPINC1 | c.85T>G (p.Cys29Gly) n.311T>G c.-60T>G (n.-60T>G) c.166T>G (p.Cys56Gly) | |
| 1 | g.173914876A>G | CA343778454 | SERPINC1 | c.85T>C (p.Cys29Arg) n.311T>C c.-60T>C (n.-60T>C) c.166T>C (p.Cys56Arg) | dbSNP |
| 1 | g.173914876A>T | CA343778456 | SERPINC1 | c.85T>A (p.Cys29Ser) n.311T>A c.-60T>A (n.-60T>A) c.166T>A (p.Cys56Ser) | |
| 1 | g.173914877G>A | CA421943268 | SERPINC1 | c.84C>T (p.Asp28=) n.310C>T c.-61C>T (n.-61C>T) c.165C>T (p.Asp55=) | |
| 1 | g.173914877G>C | CA343778460 | SERPINC1 | c.84C>G (p.Asp28Glu) n.310C>G c.-61C>G (n.-61C>G) c.165C>G (p.Asp55Glu) | |
| 1 | g.173914877G>T | CA343778461 | SERPINC1 | c.84C>A (p.Asp28Glu) n.310C>A c.-61C>A (n.-61C>A) c.165C>A (p.Asp55Glu) | |
| 1 | g.173914878T>A | CA343778463 | SERPINC1 | c.83A>T (p.Asp28Val) n.309A>T c.-62A>T (n.-62A>T) c.164A>T (p.Asp55Val) | |
| 1 | g.173914878T>C | CA343778464 | SERPINC1 | c.83A>G (p.Asp28Gly) n.309A>G c.-62A>G (n.-62A>G) c.164A>G (p.Asp55Gly) | |
| 1 | g.173914878T>G | CA343778466 | SERPINC1 | c.83A>C (p.Asp28Ala) n.309A>C c.-62A>C (n.-62A>C) c.164A>C (p.Asp55Ala) | |
| 1 | g.173914879C>A | CA343778468 | SERPINC1 | c.82G>T (p.Asp28Tyr) n.308G>T c.-63G>T (n.-63G>T) c.163G>T (p.Asp55Tyr) | |
| 1 | g.173914879C= | CA1207939036 | SERPINC1 | c.82G= (p.Asp28=) n.308G= c.-63G= (n.-63G=) c.163G= (p.Asp55=) | |
| 1 | g.173914879C>G | CA343778470 | SERPINC1 | c.82G>C (p.Asp28His) n.308G>C c.-63G>C (n.-63G>C) c.163G>C (p.Asp55His) | |
| 1 | g.173914879C>T | CA343778471 | SERPINC1 | c.82G>A (p.Asp28Asn) n.308G>A c.-63G>A (n.-63G>A) c.163G>A (p.Asp55Asn) | dbSNP |
| 1 | g.173914880C>A | CA343778473 | SERPINC1 | c.81G>T (p.Trp27Cys) n.307G>T c.-64G>T (n.-64G>T) c.162G>T (p.Trp54Cys) | |
| 1 | g.173914880C>G | CA343778475 | SERPINC1 | c.81G>C (p.Trp27Cys) n.307G>C c.-64G>C (n.-64G>C) c.162G>C (p.Trp54Cys) | |
| 1 | g.173914880C>T | CA343778476 | SERPINC1 | c.81G>A (p.Trp27Ter) n.307G>A c.-64G>A (n.-64G>A) c.162G>A (p.Trp54Ter) | COSMIC |
| 1 | g.173914881C>A | CA343778482 | SERPINC1 | c.80G>T (p.Trp27Leu) n.306G>T c.-65G>T (n.-65G>T) c.161G>T (p.Trp54Leu) | |
| 1 | g.173914881C>G | CA343778479 | SERPINC1 | c.80G>C (p.Trp27Ser) n.306G>C c.-65G>C (n.-65G>C) c.161G>C (p.Trp54Ser) | |
| 1 | g.173914881C>T | CA343778481 | SERPINC1 | c.80G>A (p.Trp27Ter) n.306G>A c.-65G>A (n.-65G>A) c.161G>A (p.Trp54Ter) | |
| 1 | g.173914882A= | CA1207939037 | SERPINC1 | c.79T= (p.Trp27=) n.305T= c.-66T= (n.-66T=) c.160T= (p.Trp54=) | |
| 1 | g.173914882A>C | CA343778483 | SERPINC1 | c.79T>G (p.Trp27Gly) n.305T>G c.-66T>G (n.-66T>G) c.160T>G (p.Trp54Gly) | COSMIC |
| 1 | g.173914882A>G | CA343778485 | SERPINC1 | c.79T>C (p.Trp27Arg) n.305T>C c.-66T>C (n.-66T>C) c.160T>C (p.Trp54Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173914882A>T | CA343778486 | SERPINC1 | c.79T>A (p.Trp27Arg) n.305T>A c.-66T>A (n.-66T>A) c.160T>A (p.Trp54Arg) | |
| 1 | g.173914883G>A | CA1251472 | SERPINC1 | c.78C>T (p.Phe26=) n.304C>T c.-67C>T (n.-67C>T) c.159C>T (p.Phe53=) | dbSNP ExAC gnomAD v2 |
| 1 | g.173914883G>C | CA343778489 | SERPINC1 | c.78C>G (p.Phe26Leu) n.304C>G c.-67C>G (n.-67C>G) c.159C>G (p.Phe53Leu) | |
| 1 | g.173914883G= | CA1207939038 | SERPINC1 | c.78C= (p.Phe26=) n.304C= c.-67C= (n.-67C=) c.159C= (p.Phe53=) | |
| 1 | g.173914883G>T | CA343778490 | SERPINC1 | c.78C>A (p.Phe26Leu) n.304C>A c.-67C>A (n.-67C>A) c.159C>A (p.Phe53Leu) | |
| 1 | g.173914884A>C | CA343778491 | SERPINC1 | c.77T>G (p.Phe26Cys) n.303T>G c.-68T>G (n.-68T>G) c.158T>G (p.Phe53Cys) | |
| 1 | g.173914884A>G | CA343778493 | SERPINC1 | c.77T>C (p.Phe26Ser) n.303T>C c.-68T>C (n.-68T>C) c.158T>C (p.Phe53Ser) | |
| 1 | g.173914884A>T | CA343778495 | SERPINC1 | c.77T>A (p.Phe26Tyr) n.303T>A c.-68T>A (n.-68T>A) c.158T>A (p.Phe53Tyr) | |
| 1 | g.173914885A>C | CA343778497 | SERPINC1 | c.76T>G (p.Phe26Val) n.302T>G c.-69T>G (n.-69T>G) c.157T>G (p.Phe53Val) | |
| 1 | g.173914885A>G | CA343778498 | SERPINC1 | c.76T>C (p.Phe26Leu) n.302T>C c.-69T>C (n.-69T>C) c.157T>C (p.Phe53Leu) | |
| 1 | g.173914885A>T | CA343778500 | SERPINC1 | c.76T>A (p.Phe26Ile) n.302T>A c.-69T>A (n.-69T>A) c.157T>A (p.Phe53Ile) | |
| 1 | g.173914886G>A | CA421942674 | SERPINC1 | c.75C>T (p.Gly25=) n.301C>T c.-70C>T (n.-70C>T) c.156C>T (p.Gly52=) | gnomAD v4 |
| 1 | g.173914886G>C | CA421942675 | SERPINC1 | c.75C>G (p.Gly25=) n.301C>G c.-70C>G (n.-70C>G) c.156C>G (p.Gly52=) | |
| 1 | g.173914886G>T | CA421942676 | SERPINC1 | c.75C>A (p.Gly25=) n.301C>A c.-70C>A (n.-70C>A) c.156C>A (p.Gly52=) | |
| 1 | g.173914887C>A | CA343778504 | SERPINC1 | c.74G>T (p.Gly25Val) n.300G>T c.-71G>T (n.-71G>T) c.155G>T (p.Gly52Val) | |
| 1 | g.173914887C= | CA1207939039 | SERPINC1 | c.74G= (p.Gly25=) n.300G= c.-71G= (n.-71G=) c.155G= (p.Gly52=) | |
| 1 | g.173914887C>G | CA343778506 | SERPINC1 | c.74G>C (p.Gly25Ala) n.300G>C c.-71G>C (n.-71G>C) c.155G>C (p.Gly52Ala) | |
| 1 | g.173914887C>T | CA343778502 | SERPINC1 | c.74G>A (p.Gly25Asp) n.300G>A c.-71G>A (n.-71G>A) c.155G>A (p.Gly52Asp) | ClinVar dbSNP |
| 1 | g.173914888C>A | CA343778508 | SERPINC1 | c.73G>T (p.Gly25Cys) n.299G>T c.-72G>T (n.-72G>T) c.154G>T (p.Gly52Cys) | |
| 1 | g.173914888C>G | CA343778511 | SERPINC1 | c.73G>C (p.Gly25Arg) n.299G>C c.-72G>C (n.-72G>C) c.154G>C (p.Gly52Arg) | |
| 1 | g.173914888C>T | CA343778509 | SERPINC1 | c.73G>A (p.Gly25Ser) n.299G>A c.-72G>A (n.-72G>A) c.154G>A (p.Gly52Ser) | |
| 1 | g.173914889A>C | CA343778513 | SERPINC1 | c.72T>G (p.Ile24Met) n.298T>G c.-73T>G (n.-73T>G) c.153T>G (p.Ile51Met) | |
| 1 | g.173914889A>G | CA421942678 | SERPINC1 | c.72T>C (p.Ile24=) n.298T>C c.-73T>C (n.-73T>C) c.153T>C (p.Ile51=) | dbSNP |
| 1 | g.173914889A>T | CA421942679 | SERPINC1 | c.72T>A (p.Ile24=) n.298T>A c.-73T>A (n.-73T>A) c.153T>A (p.Ile51=) | |
| 1 | g.173914890A= | CA1207939040 | SERPINC1 | c.71T= (p.Ile24=) n.297T= c.-74T= (n.-74T=) c.152T= (p.Ile51=) | |
| 1 | g.173914890A>C | CA343778519 | SERPINC1 | c.71T>G (p.Ile24Ser) n.297T>G c.-74T>G (n.-74T>G) c.152T>G (p.Ile51Ser) | |
| 1 | g.173914890A>G | CA343778515 | SERPINC1 | c.71T>C (p.Ile24Thr) n.297T>C c.-74T>C (n.-74T>C) c.152T>C (p.Ile51Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173914890A>T | CA343778517 | SERPINC1 | c.71T>A (p.Ile24Asn) n.297T>A c.-74T>A (n.-74T>A) c.152T>A (p.Ile51Asn) | |
| 1 | g.173914891T>A | CA343778520 | SERPINC1 | c.70A>T (p.Ile24Phe) n.296A>T c.-75A>T (n.-75A>T) c.151A>T (p.Ile51Phe) | dbSNP |
| 1 | g.173914891T>C | CA343778521 | SERPINC1 | c.70A>G (p.Ile24Val) n.296A>G c.-75A>G (n.-75A>G) c.151A>G (p.Ile51Val) | |
| 1 | g.173914891T>G | CA343778523 | SERPINC1 | c.70A>C (p.Ile24Leu) n.296A>C c.-75A>C (n.-75A>C) c.151A>C (p.Ile51Leu) | |
| 1 | g.173914891T= | CA1207939041 | SERPINC1 | c.70A= (p.Ile24=) n.296A= c.-75A= (n.-75A=) c.151A= (p.Ile51=) | |
| 1 | g.173914892G>A | CA421942680 | SERPINC1 | c.69C>T (p.Leu23=) n.295C>T c.-76C>T (n.-76C>T) c.150C>T (p.Leu50=) | |
| 1 | g.173914892G>C | CA421942681 | SERPINC1 | c.69C>G (p.Leu23=) n.295C>G c.-76C>G (n.-76C>G) c.150C>G (p.Leu50=) | |
| 1 | g.173914892G>T | CA421942682 | SERPINC1 | c.69C>A (p.Leu23=) n.295C>A c.-76C>A (n.-76C>A) c.150C>A (p.Leu50=) | |
| 1 | g.173914893A= | CA1144229037 | SERPINC1 | c.68T= (p.Leu23=) n.294T= c.-77T= (n.-77T=) c.149T= (p.Leu50=) | |
| 1 | g.173914893A>C | CA343778525 | SERPINC1 | c.68T>G (p.Leu23Arg) n.294T>G c.-77T>G (n.-77T>G) c.149T>G (p.Leu50Arg) | |
| 1 | g.173914893A>G | CA210793 | SERPINC1 | c.68T>C (p.Leu23Pro) n.294T>C c.-77T>C (n.-77T>C) c.149T>C (p.Leu50Pro) | ClinVar dbSNP |
| 1 | g.173914893A>T | CA343778527 | SERPINC1 | c.68T>A (p.Leu23His) n.294T>A c.-77T>A (n.-77T>A) c.149T>A (p.Leu50His) |