| 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.173914722_173914725del | CA2586964442 | SERPINC1 | c.236_239del (p.Arg79ProfsTer?) n.462_465del c.92_95del (p.Arg31ProfsTer?) c.317_320del (p.Arg106ProfsTer?) | |
| 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) | |
| 1 | g.173914777C>A | CA343778083 | SERPINC1 | c.184G>T (p.Ala62Ser) n.410G>T c.40G>T (p.Ala14Ser) c.265G>T (p.Ala89Ser) | |
| 1 | g.173914777C>G | CA343778086 | SERPINC1 | c.184G>C (p.Ala62Pro) n.410G>C c.40G>C (p.Ala14Pro) c.265G>C (p.Ala89Pro) | |
| 1 | g.173914777C>T | CA343778085 | SERPINC1 | c.184G>A (p.Ala62Thr) n.410G>A c.40G>A (p.Ala14Thr) c.265G>A (p.Ala89Thr) | |
| 1 | g.173914777_173914780delinsCCTT | CA1207938987 | SERPINC1 | c.181_184delinsAAGG (p.Lys61=) n.407_410delinsAAGG c.37_40delinsAAGG (p.Lys13=) c.262_265delinsAAGG (p.Lys88=) | |
| 1 | g.173914778C>A | CA343778088 | SERPINC1 | c.183G>T (p.Lys61Asn) n.409G>T c.39G>T (p.Lys13Asn) c.264G>T (p.Lys88Asn) | |
| 1 | g.173914778C>G | CA343778090 | SERPINC1 | c.183G>C (p.Lys61Asn) n.409G>C c.39G>C (p.Lys13Asn) c.264G>C (p.Lys88Asn) | |
| 1 | g.173914778C>T | CA421943143 | SERPINC1 | c.183G>A (p.Lys61=) n.409G>A c.39G>A (p.Lys13=) c.264G>A (p.Lys88=) | gnomAD v4 COSMIC |
| 1 | g.173914783_173914785del | CA1251453 | SERPINC1 | c.181_183del (p.Lys61del) n.407_409del c.37_39del (p.Lys13del) c.262_264del (p.Lys88del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914779T>A | CA343778093 | SERPINC1 | c.182A>T (p.Lys61Met) n.408A>T c.38A>T (p.Lys13Met) c.263A>T (p.Lys88Met) | |
| 1 | g.173914779T>C | CA343778095 | SERPINC1 | c.182A>G (p.Lys61Arg) n.408A>G c.38A>G (p.Lys13Arg) c.263A>G (p.Lys88Arg) | |
| 1 | g.173914779T>G | CA343778097 | SERPINC1 | c.182A>C (p.Lys61Thr) n.408A>C c.38A>C (p.Lys13Thr) c.263A>C (p.Lys88Thr) | |
| 1 | g.173914780T>A | CA343778098 | SERPINC1 | c.181A>T (p.Lys61Ter) n.407A>T c.37A>T (p.Lys13Ter) c.262A>T (p.Lys88Ter) | |
| 1 | g.173914780T>C | CA343778100 | SERPINC1 | c.181A>G (p.Lys61Glu) n.407A>G c.37A>G (p.Lys13Glu) c.262A>G (p.Lys88Glu) | |
| 1 | g.173914780T>G | CA343778102 | SERPINC1 | c.181A>C (p.Lys61Gln) n.407A>C c.37A>C (p.Lys13Gln) c.262A>C (p.Lys88Gln) | |
| 1 | g.173914781C>A | CA343778103 | SERPINC1 | c.180G>T (p.Lys60Asn) n.406G>T c.36G>T (p.Lys12Asn) c.261G>T (p.Lys87Asn) | |
| 1 | g.173914781C>G | CA343778105 | SERPINC1 | c.180G>C (p.Lys60Asn) n.406G>C c.36G>C (p.Lys12Asn) c.261G>C (p.Lys87Asn) | |
| 1 | g.173914781C>T | CA421943147 | SERPINC1 | c.180G>A (p.Lys60=) n.406G>A c.36G>A (p.Lys12=) c.261G>A (p.Lys87=) | |
| 1 | g.173914782T>A | CA343778107 | SERPINC1 | c.179A>T (p.Lys60Met) n.405A>T c.35A>T (p.Lys12Met) c.260A>T (p.Lys87Met) | |
| 1 | g.173914782T>C | CA343778109 | SERPINC1 | c.179A>G (p.Lys60Arg) n.405A>G c.35A>G (p.Lys12Arg) c.260A>G (p.Lys87Arg) | gnomAD v3 gnomAD v4 |
| 1 | g.173914782T>G | CA343778108 | SERPINC1 | c.179A>C (p.Lys60Thr) n.405A>C c.35A>C (p.Lys12Thr) c.260A>C (p.Lys87Thr) | |
| 1 | g.173914783T>A | CA343778111 | SERPINC1 | c.178A>T (p.Lys60Ter) n.404A>T c.34A>T (p.Lys12Ter) c.259A>T (p.Lys87Ter) | |
| 1 | g.173914783T>C | CA343778114 | SERPINC1 | c.178A>G (p.Lys60Glu) n.404A>G c.34A>G (p.Lys12Glu) c.259A>G (p.Lys87Glu) | |
| 1 | g.173914783T>G | CA343778113 | SERPINC1 | c.178A>C (p.Lys60Gln) n.404A>C c.34A>C (p.Lys12Gln) c.259A>C (p.Lys87Gln) | gnomAD v4 |
| 1 | g.173914784C>A | CA343778116 | SERPINC1 | c.177G>T (p.Glu59Asp) n.403G>T c.33G>T (p.Glu11Asp) c.258G>T (p.Glu86Asp) | |
| 1 | g.173914784C>G | CA343778118 | SERPINC1 | c.177G>C (p.Glu59Asp) n.403G>C c.33G>C (p.Glu11Asp) c.258G>C (p.Glu86Asp) | |
| 1 | g.173914784C>T | CA421943152 | SERPINC1 | c.177G>A (p.Glu59=) n.403G>A c.33G>A (p.Glu11=) c.258G>A (p.Glu86=) | gnomAD v4 |
| 1 | g.173914785T>A | CA343778119 | SERPINC1 | c.176A>T (p.Glu59Val) n.402A>T c.32A>T (p.Glu11Val) c.257A>T (p.Glu86Val) | |
| 1 | g.173914785T>C | CA343778121 | SERPINC1 | c.176A>G (p.Glu59Gly) n.402A>G c.32A>G (p.Glu11Gly) c.257A>G (p.Glu86Gly) | dbSNP |
| 1 | g.173914785T>G | CA343778123 | SERPINC1 | c.176A>C (p.Glu59Ala) n.402A>C c.32A>C (p.Glu11Ala) c.257A>C (p.Glu86Ala) | |
| 1 | g.173914785T= | CA1207938988 | SERPINC1 | c.176A= (p.Glu59=) n.402A= c.32A= (p.Glu11=) c.257A= (p.Glu86=) | |
| 1 | g.173914786C>A | CA343778125 | SERPINC1 | c.175G>T (p.Glu59Ter) n.401G>T c.31G>T (p.Glu11Ter) c.256G>T (p.Glu86Ter) | |
| 1 | g.173914786C>G | CA343778127 | SERPINC1 | c.175G>C (p.Glu59Gln) n.401G>C c.31G>C (p.Glu11Gln) c.256G>C (p.Glu86Gln) | |
| 1 | g.173914786C>T | CA343778129 | SERPINC1 | c.175G>A (p.Glu59Lys) n.401G>A c.31G>A (p.Glu11Lys) c.256G>A (p.Glu86Lys) | |
| 1 | g.173914787C>A | CA421943158 | SERPINC1 | c.174G>T (p.Pro58=) n.400G>T c.30G>T (p.Pro10=) c.255G>T (p.Pro85=) | dbSNP |
| 1 | g.173914787C= | CA1207938989 | SERPINC1 | c.174G= (p.Pro58=) n.400G= c.30G= (p.Pro10=) c.255G= (p.Pro85=) | |
| 1 | g.173914787C>G | CA421943159 | SERPINC1 | c.174G>C (p.Pro58=) n.400G>C c.30G>C (p.Pro10=) c.255G>C (p.Pro85=) | |
| 1 | g.173914787C>T | CA1251454 | SERPINC1 | c.174G>A (p.Pro58=) n.400G>A c.30G>A (p.Pro10=) c.255G>A (p.Pro85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914787_173914788delinsAT | CA645537738 | SERPINC1 | c.173_174delinsAT (p.Pro58His) n.399_400delinsAT c.29_30delinsAT (p.Pro10His) c.254_255delinsAT (p.Pro85His) | COSMIC |
| 1 | g.173914788G>A | CA1251455 | SERPINC1 | c.173C>T (p.Pro58Leu) n.399C>T c.29C>T (p.Pro10Leu) c.254C>T (p.Pro85Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914788G>C | CA343778133 | SERPINC1 | c.173C>G (p.Pro58Arg) n.399C>G c.29C>G (p.Pro10Arg) c.254C>G (p.Pro85Arg) | dbSNP |
| 1 | g.173914788G= | CA1145987740 | SERPINC1 | c.173C= (p.Pro58=) n.399C= c.29C= (p.Pro10=) c.254C= (p.Pro85=) | |
| 1 | g.173914788G>T | CA343778134 | SERPINC1 | c.173C>A (p.Pro58Gln) n.399C>A c.29C>A (p.Pro10Gln) c.254C>A (p.Pro85Gln) | gnomAD v4 |
| 1 | g.173914791dup | CA915943678 | SERPINC1 | c.173dup (p.Glu59GlyfsTer6) n.399dup c.29dup (p.Glu11GlyfsTer6) c.254dup (p.Glu86GlyfsTer6) | ClinVar dbSNP |
| 1 | g.173914791del | CA2586964447 | SERPINC1 | c.173del (p.Pro58ArgfsTer?) n.399del c.29del (p.Pro10ArgfsTer?) c.254del (p.Pro85ArgfsTer?) | |
| 1 | g.173914789G>A | CA343778139 | SERPINC1 | c.172C>T (p.Pro58Ser) n.398C>T c.28C>T (p.Pro10Ser) c.253C>T (p.Pro85Ser) | gnomAD v4 |
| 1 | g.173914789G>C | CA343778136 | SERPINC1 | c.172C>G (p.Pro58Ala) n.398C>G c.28C>G (p.Pro10Ala) c.253C>G (p.Pro85Ala) | |
| 1 | g.173914789G>T | CA343778137 | SERPINC1 | c.172C>A (p.Pro58Thr) n.398C>A c.28C>A (p.Pro10Thr) c.253C>A (p.Pro85Thr) | |
| 1 | g.173914790G>A | CA421943165 | SERPINC1 | c.171C>T (p.Ser57=) n.397C>T c.27C>T (p.Ser9=) c.252C>T (p.Ser84=) | ClinVar |
| 1 | g.173914790G>C | CA421943167 | SERPINC1 | c.171C>G (p.Ser57=) n.397C>G c.27C>G (p.Ser9=) c.252C>G (p.Ser84=) | |
| 1 | g.173914790G>T | CA421943169 | SERPINC1 | c.171C>A (p.Ser57=) n.397C>A c.27C>A (p.Ser9=) c.252C>A (p.Ser84=) | |
| 1 | g.173914791G>A | CA343778140 | SERPINC1 | c.170C>T (p.Ser57Phe) n.396C>T c.26C>T (p.Ser9Phe) c.251C>T (p.Ser84Phe) | gnomAD v4 |
| 1 | g.173914791G>C | CA343778142 | SERPINC1 | c.170C>G (p.Ser57Cys) n.396C>G c.26C>G (p.Ser9Cys) c.251C>G (p.Ser84Cys) | |
| 1 | g.173914791G>T | CA343778143 | SERPINC1 | c.170C>A (p.Ser57Tyr) n.396C>A c.26C>A (p.Ser9Tyr) c.251C>A (p.Ser84Tyr) | gnomAD v4 |
| 1 | g.173914792A>C | CA343778144 | SERPINC1 | c.169T>G (p.Ser57Ala) n.395T>G c.25T>G (p.Ser9Ala) c.250T>G (p.Ser84Ala) | |
| 1 | g.173914792A>G | CA343778145 | SERPINC1 | c.169T>C (p.Ser57Pro) n.395T>C c.25T>C (p.Ser9Pro) c.250T>C (p.Ser84Pro) | |
| 1 | g.173914792A>T | CA343778147 | SERPINC1 | c.169T>A (p.Ser57Thr) n.395T>A c.25T>A (p.Ser9Thr) c.250T>A (p.Ser84Thr) | |
| 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 |