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.173914645_173914647del | CA2573954057 | SERPINC1 | c.316_318del (p.Asp106del) n.21_23del n.542_544del c.172_174del (p.Asp58del) c.397_399del (p.Asp133del) | |
1 | g.173914643_173914695del | CA2586963972 | SERPINC1 | c.266_318del (p.Arg89GlnfsTer22) n.492_544del c.122_174del (p.Arg41GlnfsTer22) c.347_399del (p.Arg116GlnfsTer22) | ClinVar |
1 | g.173914644T>A | CA343777529 | SERPINC1 | c.317A>T (p.Asp106Val) n.22A>T n.543A>T c.173A>T (p.Asp58Val) c.398A>T (p.Asp133Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914644T>C | CA343777530 | SERPINC1 | c.317A>G (p.Asp106Gly) n.22A>G n.543A>G c.173A>G (p.Asp58Gly) c.398A>G (p.Asp133Gly) | |
1 | g.173914644T>G | CA343777532 | SERPINC1 | c.317A>C (p.Asp106Ala) n.22A>C n.543A>C c.173A>C (p.Asp58Ala) c.398A>C (p.Asp133Ala) | |
1 | g.173914644T= | CA1207938939 | SERPINC1 | c.317A= (p.Asp106=) n.22A= n.543A= c.173A= (p.Asp58=) c.398A= (p.Asp133=) | |
1 | g.173914645C>A | CA343777534 | SERPINC1 | c.316G>T (p.Asp106Tyr) n.21G>T n.542G>T c.172G>T (p.Asp58Tyr) c.397G>T (p.Asp133Tyr) | |
1 | g.173914645C= | CA1207938940 | SERPINC1 | c.316G= (p.Asp106=) n.21G= n.542G= c.172G= (p.Asp58=) c.397G= (p.Asp133=) | |
1 | g.173914645C>G | CA343777535 | SERPINC1 | c.316G>C (p.Asp106His) n.21G>C n.542G>C c.172G>C (p.Asp58His) c.397G>C (p.Asp133His) | |
1 | g.173914645C>T | CA343777537 | SERPINC1 | c.316G>A (p.Asp106Asn) n.21G>A n.542G>A c.172G>A (p.Asp58Asn) c.397G>A (p.Asp133Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914646A= | CA1207938941 | SERPINC1 | c.315T= (p.Asn105=) n.20T= n.541T= c.171T= (p.Asn57=) c.396T= (p.Asn132=) | |
1 | g.173914646A>C | CA32782219 | SERPINC1 | c.315T>G (p.Asn105Lys) n.20T>G n.541T>G c.171T>G (p.Asn57Lys) c.396T>G (p.Asn132Lys) | dbSNP |
1 | g.173914646A>G | CA421942973 | SERPINC1 | c.315T>C (p.Asn105=) n.20T>C n.541T>C c.171T>C (p.Asn57=) c.396T>C (p.Asn132=) | dbSNP |
1 | g.173914646A>T | CA1251439 | SERPINC1 | c.315T>A (p.Asn105Lys) n.20T>A n.541T>A c.171T>A (p.Asn57Lys) c.396T>A (p.Asn132Lys) | dbSNP ExAC gnomAD v2 |
1 | g.173914647T>A | CA343777542 | SERPINC1 | c.314A>T (p.Asn105Ile) n.19A>T n.540A>T c.170A>T (p.Asn57Ile) c.395A>T (p.Asn132Ile) | |
1 | g.173914647T>C | CA1251440 | SERPINC1 | c.314A>G (p.Asn105Ser) n.19A>G n.540A>G c.170A>G (p.Asn57Ser) c.395A>G (p.Asn132Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173914647T>G | CA343777540 | SERPINC1 | c.314A>C (p.Asn105Thr) n.19A>C n.540A>C c.170A>C (p.Asn57Thr) c.395A>C (p.Asn132Thr) | |
1 | g.173914647T= | CA1207938942 | SERPINC1 | c.314A= (p.Asn105=) n.19A= n.540A= c.170A= (p.Asn57=) c.395A= (p.Asn132=) | |
1 | g.173914648T>A | CA343777547 | SERPINC1 | c.313A>T (p.Asn105Tyr) n.18A>T n.539A>T c.169A>T (p.Asn57Tyr) c.394A>T (p.Asn132Tyr) | |
1 | g.173914648T>C | CA343777545 | SERPINC1 | c.313A>G (p.Asn105Asp) n.18A>G n.539A>G c.169A>G (p.Asn57Asp) c.394A>G (p.Asn132Asp) | |
1 | g.173914648T>G | CA343777546 | SERPINC1 | c.313A>C (p.Asn105His) n.18A>C n.539A>C c.169A>C (p.Asn57His) c.394A>C (p.Asn132His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914648T= | CA1207938943 | SERPINC1 | c.313A= (p.Asn105=) n.18A= n.539A= c.169A= (p.Asn57=) c.394A= (p.Asn132=) | |
1 | g.173914649G>A | CA421942978 | SERPINC1 | c.312C>T (p.Asp104=) n.17C>T n.538C>T c.168C>T (p.Asp56=) c.393C>T (p.Asp131=) | |
1 | g.173914649G>C | CA343777549 | SERPINC1 | c.312C>G (p.Asp104Glu) n.17C>G n.538C>G c.168C>G (p.Asp56Glu) c.393C>G (p.Asp131Glu) | |
1 | g.173914649G= | CA1207938944 | SERPINC1 | c.312C= (p.Asp104=) n.17C= n.538C= c.168C= (p.Asp56=) c.393C= (p.Asp131=) | |
1 | g.173914649G>T | CA343777551 | SERPINC1 | c.312C>A (p.Asp104Glu) n.17C>A n.538C>A c.168C>A (p.Asp56Glu) c.393C>A (p.Asp131Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914650T>A | CA1251441 | SERPINC1 | c.311A>T (p.Asp104Val) n.16A>T n.537A>T c.167A>T (p.Asp56Val) c.392A>T (p.Asp131Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173914650T>C | CA343777553 | SERPINC1 | c.311A>G (p.Asp104Gly) n.16A>G n.537A>G c.167A>G (p.Asp56Gly) c.392A>G (p.Asp131Gly) | |
1 | g.173914650T>G | CA343777555 | SERPINC1 | c.311A>C (p.Asp104Ala) n.16A>C n.537A>C c.167A>C (p.Asp56Ala) c.392A>C (p.Asp131Ala) | |
1 | g.173914650T= | CA1143396461 | SERPINC1 | c.311A= (p.Asp104=) n.16A= n.537A= c.167A= (p.Asp56=) c.392A= (p.Asp131=) | |
1 | g.173914651C>A | CA343777556 | SERPINC1 | c.310G>T (p.Asp104Tyr) n.15G>T n.536G>T c.166G>T (p.Asp56Tyr) c.391G>T (p.Asp131Tyr) | |
1 | g.173914651C>G | CA343777558 | SERPINC1 | c.310G>C (p.Asp104His) n.15G>C n.536G>C c.166G>C (p.Asp56His) c.391G>C (p.Asp131His) | |
1 | g.173914651C>T | CA343777560 | SERPINC1 | c.310G>A (p.Asp104Asn) n.15G>A n.536G>A c.166G>A (p.Asp56Asn) c.391G>A (p.Asp131Asn) | gnomAD v4 |
1 | g.173914652A= | CA1148459095 | SERPINC1 | c.309T= (p.Asn103=) n.14T= n.535T= c.165T= (p.Asn55=) c.390T= (p.Asn130=) | |
1 | g.173914652A>C | CA343777561 | SERPINC1 | c.309T>G (p.Asn103Lys) n.14T>G n.535T>G c.165T>G (p.Asn55Lys) c.390T>G (p.Asn130Lys) | |
1 | g.173914652A>G | CA32782230 | SERPINC1 | c.309T>C (p.Asn103=) n.14T>C n.535T>C c.165T>C (p.Asn55=) c.390T>C (p.Asn130=) | dbSNP |
1 | g.173914652A>T | CA343777564 | SERPINC1 | c.309T>A (p.Asn103Lys) n.14T>A n.535T>A c.165T>A (p.Asn55Lys) c.390T>A (p.Asn130Lys) | |
1 | g.173914653T>A | CA343777565 | SERPINC1 | c.308A>T (p.Asn103Ile) n.13A>T n.534A>T c.164A>T (p.Asn55Ile) c.389A>T (p.Asn130Ile) | |
1 | g.173914653T>C | CA343777569 | SERPINC1 | c.308A>G (p.Asn103Ser) n.13A>G n.534A>G c.164A>G (p.Asn55Ser) c.389A>G (p.Asn130Ser) | |
1 | g.173914653T>G | CA343777567 | SERPINC1 | c.308A>C (p.Asn103Thr) n.13A>C n.534A>C c.164A>C (p.Asn55Thr) c.389A>C (p.Asn130Thr) | |
1 | g.173914654T>A | CA343777571 | SERPINC1 | c.307A>T (p.Asn103Tyr) n.12A>T n.533A>T c.163A>T (p.Asn55Tyr) c.388A>T (p.Asn130Tyr) | |
1 | g.173914654T>C | CA343777572 | SERPINC1 | c.307A>G (p.Asn103Asp) n.12A>G n.533A>G c.163A>G (p.Asn55Asp) c.388A>G (p.Asn130Asp) | |
1 | g.173914654T>G | CA343777574 | SERPINC1 | c.307A>C (p.Asn103His) n.12A>C n.533A>C c.163A>C (p.Asn55His) c.388A>C (p.Asn130His) | |
1 | g.173914655C>A | CA343777575 | SERPINC1 | c.306G>T (p.Lys102Asn) n.11G>T n.532G>T c.162G>T (p.Lys54Asn) c.387G>T (p.Lys129Asn) | |
1 | g.173914655C>G | CA343777576 | SERPINC1 | c.306G>C (p.Lys102Asn) n.11G>C n.532G>C c.162G>C (p.Lys54Asn) c.387G>C (p.Lys129Asn) | |
1 | g.173914655C>T | CA421942980 | SERPINC1 | c.306G>A (p.Lys102=) n.11G>A n.532G>A c.162G>A (p.Lys54=) c.387G>A (p.Lys129=) | |
1 | g.173914656T>A | CA32782236 | SERPINC1 | c.305A>T (p.Lys102Met) n.10A>T n.531A>T c.161A>T (p.Lys54Met) c.386A>T (p.Lys129Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914656T>C | CA343777577 | SERPINC1 | c.305A>G (p.Lys102Arg) n.10A>G n.531A>G c.161A>G (p.Lys54Arg) c.386A>G (p.Lys129Arg) | |
1 | g.173914656T>G | CA343777579 | SERPINC1 | c.305A>C (p.Lys102Thr) n.10A>C n.531A>C c.161A>C (p.Lys54Thr) c.386A>C (p.Lys129Thr) | |
1 | g.173914656T= | CA1207938945 | SERPINC1 | c.305A= (p.Lys102=) n.10A= n.531A= c.161A= (p.Lys54=) c.386A= (p.Lys129=) | |
1 | g.173914657T>A | CA343777581 | SERPINC1 | c.304A>T (p.Lys102Ter) n.9A>T n.530A>T c.160A>T (p.Lys54Ter) c.385A>T (p.Lys129Ter) | |
1 | g.173914657T>C | CA343777583 | SERPINC1 | c.304A>G (p.Lys102Glu) n.9A>G n.530A>G c.160A>G (p.Lys54Glu) c.385A>G (p.Lys129Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914657T>G | CA343777584 | SERPINC1 | c.304A>C (p.Lys102Gln) n.9A>C n.530A>C c.160A>C (p.Lys54Gln) c.385A>C (p.Lys129Gln) | |
1 | g.173914657T= | CA1207938946 | SERPINC1 | c.304A= (p.Lys102=) n.9A= n.530A= c.160A= (p.Lys54=) c.385A= (p.Lys129=) | |
1 | g.173914658G>A | CA421942985 | SERPINC1 | c.303C>T (p.Ser101=) n.8C>T n.529C>T c.159C>T (p.Ser53=) c.384C>T (p.Ser128=) | |
1 | g.173914658G>C | CA421942987 | SERPINC1 | c.303C>G (p.Ser101=) n.8C>G n.529C>G c.159C>G (p.Ser53=) c.384C>G (p.Ser128=) | |
1 | g.173914658G>T | CA421942988 | SERPINC1 | c.303C>A (p.Ser101=) n.8C>A n.529C>A c.159C>A (p.Ser53=) c.384C>A (p.Ser128=) | |
1 | g.173914659G>A | CA1251442 | SERPINC1 | c.302C>T (p.Ser101Phe) n.7C>T n.528C>T c.158C>T (p.Ser53Phe) c.383C>T (p.Ser128Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914659G>C | CA1251443 | SERPINC1 | c.302C>G (p.Ser101Cys) n.7C>G n.528C>G c.158C>G (p.Ser53Cys) c.383C>G (p.Ser128Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914659G= | CA1143382383 | SERPINC1 | c.302C= (p.Ser101=) n.7C= n.528C= c.158C= (p.Ser53=) c.383C= (p.Ser128=) | |
1 | g.173914659G>T | CA343777586 | SERPINC1 | c.302C>A (p.Ser101Tyr) n.7C>A n.528C>A c.158C>A (p.Ser53Tyr) c.383C>A (p.Ser128Tyr) | |
1 | g.173914660A>C | CA343777588 | SERPINC1 | c.301T>G (p.Ser101Ala) n.6T>G n.527T>G c.157T>G (p.Ser53Ala) c.382T>G (p.Ser128Ala) | |
1 | g.173914660A>G | CA343777590 | SERPINC1 | c.301T>C (p.Ser101Pro) n.6T>C n.527T>C c.157T>C (p.Ser53Pro) c.382T>C (p.Ser128Pro) | |
1 | g.173914660A>T | CA343777592 | SERPINC1 | c.301T>A (p.Ser101Thr) n.6T>A n.527T>A c.157T>A (p.Ser53Thr) c.382T>A (p.Ser128Thr) | |
1 | g.173914661A= | CA1207938947 | SERPINC1 | c.300T= (p.Asp100=) n.5T= n.526T= c.156T= (p.Asp52=) c.381T= (p.Asp127=) | |
1 | g.173914661A>C | CA343777593 | SERPINC1 | c.300T>G (p.Asp100Glu) n.5T>G n.526T>G c.156T>G (p.Asp52Glu) c.381T>G (p.Asp127Glu) | |
1 | g.173914661A>G | CA421942992 | SERPINC1 | c.300T>C (p.Asp100=) n.5T>C n.526T>C c.156T>C (p.Asp52=) c.381T>C (p.Asp127=) | dbSNP |
1 | g.173914661A>T | CA343777595 | SERPINC1 | c.300T>A (p.Asp100Glu) n.5T>A n.526T>A c.156T>A (p.Asp52Glu) c.381T>A (p.Asp127Glu) | |
1 | g.173914662T>A | CA343777599 | SERPINC1 | c.299A>T (p.Asp100Val) n.4A>T n.525A>T c.155A>T (p.Asp52Val) c.380A>T (p.Asp127Val) | gnomAD v4 |
1 | g.173914662T>C | CA1251444 | SERPINC1 | c.299A>G (p.Asp100Gly) n.4A>G n.525A>G c.155A>G (p.Asp52Gly) c.380A>G (p.Asp127Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914662T>G | CA343777598 | SERPINC1 | c.299A>C (p.Asp100Ala) n.4A>C n.525A>C c.155A>C (p.Asp52Ala) c.380A>C (p.Asp127Ala) | |
1 | g.173914662T= | CA1143669982 | SERPINC1 | c.299A= (p.Asp100=) n.4A= n.525A= c.155A= (p.Asp52=) c.380A= (p.Asp127=) | |
1 | g.173914663C>A | CA343777601 | SERPINC1 | c.298G>T (p.Asp100Tyr) n.3G>T n.524G>T c.154G>T (p.Asp52Tyr) c.379G>T (p.Asp127Tyr) | |
1 | g.173914663C>G | CA343777603 | SERPINC1 | c.298G>C (p.Asp100His) n.3G>C n.524G>C c.154G>C (p.Asp52His) c.379G>C (p.Asp127His) | |
1 | g.173914663C>T | CA343777604 | SERPINC1 | c.298G>A (p.Asp100Asn) n.3G>A n.524G>A c.154G>A (p.Asp52Asn) c.379G>A (p.Asp127Asn) | |
1 | g.173914664T>A | CA421942996 | SERPINC1 | c.297A>T (p.Ala99=) n.2A>T n.523A>T c.153A>T (p.Ala51=) c.378A>T (p.Ala126=) | |
1 | g.173914664T>C | CA421942994 | SERPINC1 | c.297A>G (p.Ala99=) n.2A>G n.523A>G c.153A>G (p.Ala51=) c.378A>G (p.Ala126=) | |
1 | g.173914664T>G | CA421942995 | SERPINC1 | c.297A>C (p.Ala99=) n.2A>C n.523A>C c.153A>C (p.Ala51=) c.378A>C (p.Ala126=) | |
1 | g.173914665G>A | CA343777606 | SERPINC1 | c.296C>T (p.Ala99Val) n.1C>T n.522C>T c.152C>T (p.Ala51Val) c.377C>T (p.Ala126Val) | gnomAD v4 |
1 | g.173914665G>C | CA343777607 | SERPINC1 | c.296C>G (p.Ala99Gly) n.1C>G n.522C>G c.152C>G (p.Ala51Gly) c.377C>G (p.Ala126Gly) | |
1 | g.173914665G>T | CA343777610 | SERPINC1 | c.296C>A (p.Ala99Glu) n.1C>A n.522C>A c.152C>A (p.Ala51Glu) c.377C>A (p.Ala126Glu) | ClinVar dbSNP |
1 | g.173914666C>A | CA343777612 | SERPINC1 | c.295G>T (p.Ala99Ser) n.521G>T c.151G>T (p.Ala51Ser) c.376G>T (p.Ala126Ser) | |
1 | g.173914666C>G | CA343777616 | SERPINC1 | c.295G>C (p.Ala99Pro) n.521G>C c.151G>C (p.Ala51Pro) c.376G>C (p.Ala126Pro) | |
1 | g.173914666C>T | CA343777614 | SERPINC1 | c.295G>A (p.Ala99Thr) n.521G>A c.151G>A (p.Ala51Thr) c.376G>A (p.Ala126Thr) | |
1 | g.173914667del | CA2586964437 | SERPINC1 | c.295del (p.Ala99GlnfsTer15) n.521del c.151del (p.Ala51GlnfsTer15) c.376del (p.Ala126GlnfsTer15) | |
1 | g.173914667C>A | CA421942998 | SERPINC1 | c.294G>T (p.Leu98=) n.520G>T c.150G>T (p.Leu50=) c.375G>T (p.Leu125=) | |
1 | g.173914667C>G | CA421942999 | SERPINC1 | c.294G>C (p.Leu98=) n.520G>C c.150G>C (p.Leu50=) c.375G>C (p.Leu125=) | |
1 | g.173914667C>T | CA421943000 | SERPINC1 | c.294G>A (p.Leu98=) n.520G>A c.150G>A (p.Leu50=) c.375G>A (p.Leu125=) | |
1 | g.173914668A>C | CA343777617 | SERPINC1 | c.293T>G (p.Leu98Arg) n.519T>G c.149T>G (p.Leu50Arg) c.374T>G (p.Leu125Arg) | |
1 | g.173914668A>G | CA343777619 | SERPINC1 | c.293T>C (p.Leu98Pro) n.519T>C c.149T>C (p.Leu50Pro) c.374T>C (p.Leu125Pro) | gnomAD v4 |
1 | g.173914668A>T | CA343777621 | SERPINC1 | c.293T>A (p.Leu98Gln) n.519T>A c.149T>A (p.Leu50Gln) c.374T>A (p.Leu125Gln) | |
1 | g.173914669G>A | CA421943004 | SERPINC1 | c.292C>T (p.Leu98=) n.518C>T c.148C>T (p.Leu50=) c.373C>T (p.Leu125=) | gnomAD v4 |
1 | g.173914669G>C | CA343777622 | SERPINC1 | c.292C>G (p.Leu98Val) n.518C>G c.148C>G (p.Leu50Val) c.373C>G (p.Leu125Val) | |
1 | g.173914669G>T | CA343777624 | SERPINC1 | c.292C>A (p.Leu98Met) n.518C>A c.148C>A (p.Leu50Met) c.373C>A (p.Leu125Met) | |
1 | g.173914670G>A | CA421943005 | SERPINC1 | c.291C>T (p.His97=) n.517C>T c.147C>T (p.His49=) c.372C>T (p.His124=) | |
1 | g.173914670G>C | CA343777625 | SERPINC1 | c.291C>G (p.His97Gln) n.517C>G c.147C>G (p.His49Gln) c.372C>G (p.His124Gln) | |
1 | g.173914670G>T | CA343777627 | SERPINC1 | c.291C>A (p.His97Gln) n.517C>A c.147C>A (p.His49Gln) c.372C>A (p.His124Gln) | |
1 | g.173914671T>A | CA343777628 | SERPINC1 | c.290A>T (p.His97Leu) n.516A>T c.146A>T (p.His49Leu) c.371A>T (p.His124Leu) | |
1 | g.173914671T>C | CA343777630 | SERPINC1 | c.290A>G (p.His97Arg) n.516A>G c.146A>G (p.His49Arg) c.371A>G (p.His124Arg) | |
1 | g.173914671T>G | CA343777631 | SERPINC1 | c.290A>C (p.His97Pro) n.516A>C c.146A>C (p.His49Pro) c.371A>C (p.His124Pro) | |
1 | g.173914672G>A | CA343777633 | SERPINC1 | c.289C>T (p.His97Tyr) n.515C>T c.145C>T (p.His49Tyr) c.370C>T (p.His124Tyr) | |
1 | g.173914672G>C | CA343777635 | SERPINC1 | c.289C>G (p.His97Asp) n.515C>G c.145C>G (p.His49Asp) c.370C>G (p.His124Asp) | |
1 | g.173914672G>T | CA343777636 | SERPINC1 | c.289C>A (p.His97Asn) n.515C>A c.145C>A (p.His49Asn) c.370C>A (p.His124Asn) | |
1 | g.173914673C>A | CA343777639 | SERPINC1 | c.288G>T (p.Gln96His) n.514G>T c.144G>T (p.Gln48His) c.369G>T (p.Gln123His) | |
1 | g.173914673C>G | CA343777638 | SERPINC1 | c.288G>C (p.Gln96His) n.514G>C c.144G>C (p.Gln48His) c.369G>C (p.Gln123His) | |
1 | g.173914673C>T | CA421943009 | SERPINC1 | c.288G>A (p.Gln96=) n.514G>A c.144G>A (p.Gln48=) c.369G>A (p.Gln123=) | |
1 | g.173914674T>A | CA343777641 | SERPINC1 | c.287A>T (p.Gln96Leu) n.513A>T c.143A>T (p.Gln48Leu) c.368A>T (p.Gln123Leu) | |
1 | g.173914674T>C | CA343777644 | SERPINC1 | c.287A>G (p.Gln96Arg) n.513A>G c.143A>G (p.Gln48Arg) c.368A>G (p.Gln123Arg) | dbSNP |
1 | g.173914674T>G | CA343777643 | SERPINC1 | c.287A>C (p.Gln96Pro) n.513A>C c.143A>C (p.Gln48Pro) c.368A>C (p.Gln123Pro) | |
1 | g.173914674T= | CA1207938948 | SERPINC1 | c.287A= (p.Gln96=) n.513A= c.143A= (p.Gln48=) c.368A= (p.Gln123=) | |
1 | g.173914675G>A | CA343777646 | SERPINC1 | c.286C>T (p.Gln96Ter) n.512C>T c.142C>T (p.Gln48Ter) c.367C>T (p.Gln123Ter) | gnomAD v4 |
1 | g.173914675G>C | CA343777650 | SERPINC1 | c.286C>G (p.Gln96Glu) n.512C>G c.142C>G (p.Gln48Glu) c.367C>G (p.Gln123Glu) | gnomAD v4 |
1 | g.173914675G= | CA1207938949 | SERPINC1 | c.286C= (p.Gln96=) n.512C= c.142C= (p.Gln48=) c.367C= (p.Gln123=) | |
1 | g.173914675G>T | CA343777648 | SERPINC1 | c.286C>A (p.Gln96Lys) n.512C>A c.142C>A (p.Gln48Lys) c.367C>A (p.Gln123Lys) | dbSNP |
1 | g.173914677_173914680del | CA2586964438 | SERPINC1 | c.283_286del (p.Tyr95SerfsTer18) n.509_512del c.139_142del (p.Tyr47SerfsTer18) c.364_367del (p.Tyr122SerfsTer18) | |
1 | g.173914676A= | CA1207938950 | SERPINC1 | c.285T= (p.Tyr95=) n.511T= c.141T= (p.Tyr47=) c.366T= (p.Tyr122=) | |
1 | g.173914676A>C | CA343777652 | SERPINC1 | c.285T>G (p.Tyr95Ter) n.511T>G c.141T>G (p.Tyr47Ter) c.366T>G (p.Tyr122Ter) | |
1 | g.173914676A>G | CA421943012 | SERPINC1 | c.285T>C (p.Tyr95=) n.511T>C c.141T>C (p.Tyr47=) c.366T>C (p.Tyr122=) | dbSNP |
1 | g.173914676A>T | CA343777654 | SERPINC1 | c.285T>A (p.Tyr95Ter) n.511T>A c.141T>A (p.Tyr47Ter) c.366T>A (p.Tyr122Ter) | |
1 | g.173914677T>A | CA343777656 | SERPINC1 | c.284A>T (p.Tyr95Phe) n.510A>T c.140A>T (p.Tyr47Phe) c.365A>T (p.Tyr122Phe) | |
1 | g.173914677T>C | CA32782248 | SERPINC1 | c.284A>G (p.Tyr95Cys) n.510A>G c.140A>G (p.Tyr47Cys) c.365A>G (p.Tyr122Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914677T>G | CA343777658 | SERPINC1 | c.284A>C (p.Tyr95Ser) n.510A>C c.140A>C (p.Tyr47Ser) c.365A>C (p.Tyr122Ser) | |
1 | g.173914677T= | CA1207938951 | SERPINC1 | c.284A= (p.Tyr95=) n.510A= c.140A= (p.Tyr47=) c.365A= (p.Tyr122=) | |
1 | g.173914678A= | CA1207938952 | SERPINC1 | c.283T= (p.Tyr95=) n.509T= c.139T= (p.Tyr47=) c.364T= (p.Tyr122=) | |
1 | g.173914678A>C | CA343777660 | SERPINC1 | c.283T>G (p.Tyr95Asp) n.509T>G c.139T>G (p.Tyr47Asp) c.364T>G (p.Tyr122Asp) | |
1 | g.173914678A>G | CA343777661 | SERPINC1 | c.283T>C (p.Tyr95His) n.509T>C c.139T>C (p.Tyr47His) c.364T>C (p.Tyr122His) | ClinVar dbSNP |
1 | g.173914678A>T | CA343777663 | SERPINC1 | c.283T>A (p.Tyr95Asn) n.509T>A c.139T>A (p.Tyr47Asn) c.364T>A (p.Tyr122Asn) | |
1 | g.173914680_173914683del | CA1670972946 | SERPINC1 | c.280_283del (p.Phe94IlefsTer19) n.506_509del c.136_139del (p.Phe46IlefsTer19) c.361_364del (p.Phe121IlefsTer19) | ClinVar |
1 | g.173914679G>A | CA421943017 | SERPINC1 | c.282C>T (p.Phe94=) n.508C>T c.138C>T (p.Phe46=) c.363C>T (p.Phe121=) | |
1 | g.173914679G>C | CA343777665 | SERPINC1 | c.282C>G (p.Phe94Leu) n.508C>G c.138C>G (p.Phe46Leu) c.363C>G (p.Phe121Leu) | |
1 | g.173914679G>T | CA343777666 | SERPINC1 | c.282C>A (p.Phe94Leu) n.508C>A c.138C>A (p.Phe46Leu) c.363C>A (p.Phe121Leu) | |
1 | g.173914680A>C | CA343777672 | SERPINC1 | c.281T>G (p.Phe94Cys) n.507T>G c.137T>G (p.Phe46Cys) c.362T>G (p.Phe121Cys) | |
1 | g.173914680A>G | CA343777670 | SERPINC1 | c.281T>C (p.Phe94Ser) n.507T>C c.137T>C (p.Phe46Ser) c.362T>C (p.Phe121Ser) | |
1 | g.173914680A>T | CA343777668 | SERPINC1 | c.281T>A (p.Phe94Tyr) n.507T>A c.137T>A (p.Phe46Tyr) c.362T>A (p.Phe121Tyr) | |
1 | g.173914681A= | CA1207938953 | SERPINC1 | c.280T= (p.Phe94=) n.506T= c.136T= (p.Phe46=) c.361T= (p.Phe121=) | |
1 | g.173914681A>C | CA343777673 | SERPINC1 | c.280T>G (p.Phe94Val) n.506T>G c.136T>G (p.Phe46Val) c.361T>G (p.Phe121Val) | |
1 | g.173914681A>G | CA343777675 | SERPINC1 | c.280T>C (p.Phe94Leu) n.506T>C c.136T>C (p.Phe46Leu) c.361T>C (p.Phe121Leu) | |
1 | g.173914681A>T | CA343777677 | SERPINC1 | c.280T>A (p.Phe94Ile) n.506T>A c.136T>A (p.Phe46Ile) c.361T>A (p.Phe121Ile) | COSMIC |
1 | g.173914681_173914682insGTT | CA916341738 | SERPINC1 | c.279_280insAAC (p.Thr93_Phe94insAsn) n.505_506insAAC c.135_136insAAC (p.Thr45_Phe46insAsn) c.360_361insAAC (p.Thr120_Phe121insAsn) | dbSNP |
1 | g.173914682A>C | CA421943020 | SERPINC1 | c.279T>G (p.Thr93=) n.505T>G c.135T>G (p.Thr45=) c.360T>G (p.Thr120=) | |
1 | g.173914682A>G | CA421943022 | SERPINC1 | c.279T>C (p.Thr93=) n.505T>C c.135T>C (p.Thr45=) c.360T>C (p.Thr120=) | |
1 | g.173914682A>T | CA421943023 | SERPINC1 | c.279T>A (p.Thr93=) n.505T>A c.135T>A (p.Thr45=) c.360T>A (p.Thr120=) | |
1 | g.173914683G>A | CA343777679 | SERPINC1 | c.278C>T (p.Thr93Ile) n.504C>T c.134C>T (p.Thr45Ile) c.359C>T (p.Thr120Ile) | |
1 | g.173914683G>C | CA343777681 | SERPINC1 | c.278C>G (p.Thr93Ser) n.504C>G c.134C>G (p.Thr45Ser) c.359C>G (p.Thr120Ser) | |
1 | g.173914683G>T | CA343777683 | SERPINC1 | c.278C>A (p.Thr93Asn) n.504C>A c.134C>A (p.Thr45Asn) c.359C>A (p.Thr120Asn) | gnomAD v4 |
1 | g.173914684del | CA2695199918 | SERPINC1 | c.277del (p.Thr93LeufsTer21) n.503del c.133del (p.Thr45LeufsTer21) c.358del (p.Thr120LeufsTer21) | ClinVar |
1 | g.173914684T>A | CA343777685 | SERPINC1 | c.277A>T (p.Thr93Ser) n.503A>T c.133A>T (p.Thr45Ser) c.358A>T (p.Thr120Ser) | |
1 | g.173914684T>C | CA343777686 | SERPINC1 | c.277A>G (p.Thr93Ala) n.503A>G c.133A>G (p.Thr45Ala) c.358A>G (p.Thr120Ala) | |
1 | g.173914684T>G | CA343777688 | SERPINC1 | c.277A>C (p.Thr93Pro) n.503A>C c.133A>C (p.Thr45Pro) c.358A>C (p.Thr120Pro) | |
1 | g.173914685G>A | CA421943027 | SERPINC1 | c.276C>T (p.Thr92=) n.502C>T c.132C>T (p.Thr44=) c.357C>T (p.Thr119=) | gnomAD v4 |
1 | g.173914685G>C | CA421943025 | SERPINC1 | c.276C>G (p.Thr92=) n.502C>G c.132C>G (p.Thr44=) c.357C>G (p.Thr119=) | |
1 | g.173914685G>T | CA421943026 | SERPINC1 | c.276C>A (p.Thr92=) n.502C>A c.132C>A (p.Thr44=) c.357C>A (p.Thr119=) | |
1 | g.173914685_173914688delinsGGTA | CA1207938954 | SERPINC1 | c.273_276delinsTACC (p.Ala91=) n.499_502delinsTACC c.129_132delinsTACC (p.Ala43=) c.354_357delinsTACC (p.Ala118=) | |
1 | g.173914686G>A | CA343777690 | SERPINC1 | c.275C>T (p.Thr92Ile) n.501C>T c.131C>T (p.Thr44Ile) c.356C>T (p.Thr119Ile) | |
1 | g.173914686G>C | CA343777692 | SERPINC1 | c.275C>G (p.Thr92Ser) n.501C>G c.131C>G (p.Thr44Ser) c.356C>G (p.Thr119Ser) | |
1 | g.173914686G>T | CA343777693 | SERPINC1 | c.275C>A (p.Thr92Asn) n.501C>A c.131C>A (p.Thr44Asn) c.356C>A (p.Thr119Asn) | |
1 | g.173914687_173914689del | CA916341739 | SERPINC1 | c.273_275del (p.Thr92del) n.499_501del c.129_131del (p.Thr44del) c.354_356del (p.Thr119del) | dbSNP |
1 | g.173914687T>A | CA343777696 | SERPINC1 | c.274A>T (p.Thr92Ser) n.500A>T c.130A>T (p.Thr44Ser) c.355A>T (p.Thr119Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914687T>C | CA343777698 | SERPINC1 | c.274A>G (p.Thr92Ala) n.500A>G c.130A>G (p.Thr44Ala) c.355A>G (p.Thr119Ala) | |
1 | g.173914687T>G | CA343777695 | SERPINC1 | c.274A>C (p.Thr92Pro) n.500A>C c.130A>C (p.Thr44Pro) c.355A>C (p.Thr119Pro) | |
1 | g.173914687T= | CA1207938955 | SERPINC1 | c.274A= (p.Thr92=) n.500A= c.130A= (p.Thr44=) c.355A= (p.Thr119=) | |
1 | g.173914688A>C | CA421943031 | SERPINC1 | c.273T>G (p.Ala91=) n.499T>G c.129T>G (p.Ala43=) c.354T>G (p.Ala118=) | |
1 | g.173914688A>G | CA421943032 | SERPINC1 | c.273T>C (p.Ala91=) n.499T>C c.129T>C (p.Ala43=) c.354T>C (p.Ala118=) | |
1 | g.173914688A>T | CA421943033 | SERPINC1 | c.273T>A (p.Ala91=) n.499T>A c.129T>A (p.Ala43=) c.354T>A (p.Ala118=) | |
1 | g.173914689G>A | CA343777700 | SERPINC1 | c.272C>T (p.Ala91Val) n.498C>T c.128C>T (p.Ala43Val) c.353C>T (p.Ala118Val) | ClinVar COSMIC |
1 | g.173914689G>C | CA343777702 | SERPINC1 | c.272C>G (p.Ala91Gly) n.498C>G c.128C>G (p.Ala43Gly) c.353C>G (p.Ala118Gly) | |
1 | g.173914689G>T | CA343777703 | SERPINC1 | c.272C>A (p.Ala91Asp) n.498C>A c.128C>A (p.Ala43Asp) c.353C>A (p.Ala118Asp) | |
1 | g.173914690C>A | CA343777706 | SERPINC1 | c.271G>T (p.Ala91Ser) n.497G>T c.127G>T (p.Ala43Ser) c.352G>T (p.Ala118Ser) | |
1 | g.173914690C>G | CA343777707 | SERPINC1 | c.271G>C (p.Ala91Pro) n.497G>C c.127G>C (p.Ala43Pro) c.352G>C (p.Ala118Pro) | |
1 | g.173914690C>T | CA343777709 | SERPINC1 | c.271G>A (p.Ala91Thr) n.497G>A c.127G>A (p.Ala43Thr) c.352G>A (p.Ala118Thr) | |
1 | g.173914691A>C | CA343777711 | SERPINC1 | c.270T>G (p.Phe90Leu) n.496T>G c.126T>G (p.Phe42Leu) c.351T>G (p.Phe117Leu) | |
1 | g.173914691A>G | CA421943034 | SERPINC1 | c.270T>C (p.Phe90=) n.496T>C c.126T>C (p.Phe42=) c.351T>C (p.Phe117=) | |
1 | g.173914691A>T | CA343777710 | SERPINC1 | c.270T>A (p.Phe90Leu) n.496T>A c.126T>A (p.Phe42Leu) c.351T>A (p.Phe117Leu) | |
1 | g.173914692A>C | CA343777713 | SERPINC1 | c.269T>G (p.Phe90Cys) n.495T>G c.125T>G (p.Phe42Cys) c.350T>G (p.Phe117Cys) | ClinVar |
1 | g.173914692A>G | CA343777715 | SERPINC1 | c.269T>C (p.Phe90Ser) n.495T>C c.125T>C (p.Phe42Ser) c.350T>C (p.Phe117Ser) | |
1 | g.173914692A>T | CA343777716 | SERPINC1 | c.269T>A (p.Phe90Tyr) n.495T>A c.125T>A (p.Phe42Tyr) c.350T>A (p.Phe117Tyr) | |
1 | g.173914693A>C | CA343777718 | SERPINC1 | c.268T>G (p.Phe90Val) n.494T>G c.124T>G (p.Phe42Val) c.349T>G (p.Phe117Val) | |
1 | g.173914693A>G | CA343777720 | SERPINC1 | c.268T>C (p.Phe90Leu) n.494T>C c.124T>C (p.Phe42Leu) c.349T>C (p.Phe117Leu) | |
1 | g.173914693A>T | CA343777721 | SERPINC1 | c.268T>A (p.Phe90Ile) n.494T>A c.124T>A (p.Phe42Ile) c.349T>A (p.Phe117Ile) | |
1 | g.173914694G>A | CA421943036 | SERPINC1 | c.267C>T (p.Arg89=) n.493C>T c.123C>T (p.Arg41=) c.348C>T (p.Arg116=) | gnomAD v4 |
1 | g.173914694G>C | CA421943037 | SERPINC1 | c.267C>G (p.Arg89=) n.493C>G c.123C>G (p.Arg41=) c.348C>G (p.Arg116=) | |
1 | g.173914694G= | CA1207938956 | SERPINC1 | c.267C= (p.Arg89=) n.493C= c.123C= (p.Arg41=) c.348C= (p.Arg116=) | |
1 | g.173914694G>T | CA421943038 | SERPINC1 | c.267C>A (p.Arg89=) n.493C>A c.123C>A (p.Arg41=) c.348C>A (p.Arg116=) | dbSNP |
1 | g.173914695C>A | CA343777723 | SERPINC1 | c.266G>T (p.Arg89Leu) n.492G>T c.122G>T (p.Arg41Leu) c.347G>T (p.Arg116Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.173914695C= | CA1148246800 | SERPINC1 | c.266G= (p.Arg89=) n.492G= c.122G= (p.Arg41=) c.347G= (p.Arg116=) | |
1 | g.173914695C>G | CA343777725 | SERPINC1 | c.266G>C (p.Arg89Pro) n.492G>C c.122G>C (p.Arg41Pro) c.347G>C (p.Arg116Pro) | |
1 | g.173914695C>T | CA1251445 | SERPINC1 | c.266G>A (p.Arg89His) n.492G>A c.122G>A (p.Arg41His) c.347G>A (p.Arg116His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914695_173914696delinsGC | CA2573051124 | SERPINC1 | c.265_266delinsGC (p.Arg89Ala) n.491_492delinsGC c.121_122delinsGC (p.Arg41Ala) c.346_347delinsGC (p.Arg116Ala) | |
1 | g.173914696G>A | CA1251446 | SERPINC1 | c.265C>T (p.Arg89Cys) n.491C>T c.121C>T (p.Arg41Cys) c.346C>T (p.Arg116Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914696G>C | CA343777728 | SERPINC1 | c.265C>G (p.Arg89Gly) n.491C>G c.121C>G (p.Arg41Gly) c.346C>G (p.Arg116Gly) | |
1 | g.173914696G= | CA1142168120 | SERPINC1 | c.265C= (p.Arg89=) n.491C= c.121C= (p.Arg41=) c.346C= (p.Arg116=) | |
1 | g.173914696G>T | CA343777730 | SERPINC1 | c.265C>A (p.Arg89Ser) n.491C>A c.121C>A (p.Arg41Ser) c.346C>A (p.Arg116Ser) | |
1 | g.173914697G>A | CA421943042 | SERPINC1 | c.264C>T (p.Ser88=) n.490C>T c.120C>T (p.Ser40=) c.345C>T (p.Ser115=) | |
1 | g.173914697G>C | CA421943043 | SERPINC1 | c.264C>G (p.Ser88=) n.490C>G c.120C>G (p.Ser40=) c.345C>G (p.Ser115=) | dbSNP |
1 | g.173914697G= | CA1207938957 | SERPINC1 | c.264C= (p.Ser88=) n.490C= c.120C= (p.Ser40=) c.345C= (p.Ser115=) | |
1 | g.173914697G>T | CA421943044 | SERPINC1 | c.264C>A (p.Ser88=) n.490C>A c.120C>A (p.Ser40=) c.345C>A (p.Ser115=) | |
1 | g.173914698G>A | CA343777732 | SERPINC1 | c.263C>T (p.Ser88Phe) n.489C>T c.119C>T (p.Ser40Phe) c.344C>T (p.Ser115Phe) | gnomAD v4 |
1 | g.173914698G>C | CA343777734 | SERPINC1 | c.263C>G (p.Ser88Cys) n.489C>G c.119C>G (p.Ser40Cys) c.344C>G (p.Ser115Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914698G= | CA1207938958 | SERPINC1 | c.263C= (p.Ser88=) n.489C= c.119C= (p.Ser40=) c.344C= (p.Ser115=) | |
1 | g.173914698G>T | CA1251447 | SERPINC1 | c.263C>A (p.Ser88Tyr) n.489C>A c.119C>A (p.Ser40Tyr) c.344C>A (p.Ser115Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173914698_173914718del | CA2586964441 | SERPINC1 | c.243_263del (p.Trp81_Ser88delinsCys) n.469_489del c.99_119del (p.Trp33_Ser40delinsCys) c.324_344del (p.Trp108_Ser115delinsCys) | |
1 | g.173914698_173914719delinsT | CA2582342990 | SERPINC1 | c.242_263delinsA (p.Trp81_Ser88delinsTyr) n.468_489delinsA c.98_119delinsA (p.Trp33_Ser40delinsTyr) c.323_344delinsA (p.Trp108_Ser115delinsTyr) | |
1 | g.173914699A>C | CA343777735 | SERPINC1 | c.262T>G (p.Ser88Ala) n.488T>G c.118T>G (p.Ser40Ala) c.343T>G (p.Ser115Ala) | |
1 | g.173914699A>G | CA343777737 | SERPINC1 | c.262T>C (p.Ser88Pro) n.488T>C c.118T>C (p.Ser40Pro) c.343T>C (p.Ser115Pro) | |
1 | g.173914699A>T | CA343777739 | SERPINC1 | c.262T>A (p.Ser88Thr) n.488T>A c.118T>A (p.Ser40Thr) c.343T>A (p.Ser115Thr) | |
1 | g.173914700A= | CA1207938959 | SERPINC1 | c.261T= (p.Asn87=) n.487T= c.117T= (p.Asn39=) c.342T= (p.Asn114=) | |
1 | g.173914700A>C | CA343777741 | SERPINC1 | c.261T>G (p.Asn87Lys) n.487T>G c.117T>G (p.Asn39Lys) c.342T>G (p.Asn114Lys) | |
1 | g.173914700A>G | CA32782266 | SERPINC1 | c.261T>C (p.Asn87=) n.487T>C c.117T>C (p.Asn39=) c.342T>C (p.Asn114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914700A>T | CA343777742 | SERPINC1 | c.261T>A (p.Asn87Lys) n.487T>A c.117T>A (p.Asn39Lys) c.342T>A (p.Asn114Lys) | |
1 | g.173914700_173914702del | CA2582323034 | SERPINC1 | c.259_261del (p.Asn87del) n.485_487del c.115_117del (p.Asn39del) c.340_342del (p.Asn114del) | |
1 | g.173914701T>A | CA343777748 | SERPINC1 | c.260A>T (p.Asn87Ile) n.486A>T c.116A>T (p.Asn39Ile) c.341A>T (p.Asn114Ile) | |
1 | g.173914701T>C | CA343777746 | SERPINC1 | c.260A>G (p.Asn87Ser) n.486A>G c.116A>G (p.Asn39Ser) c.341A>G (p.Asn114Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.173914701T>G | CA343777745 | SERPINC1 | c.260A>C (p.Asn87Thr) n.486A>C c.116A>C (p.Asn39Thr) c.341A>C (p.Asn114Thr) | |
1 | g.173914702T>A | CA343777750 | SERPINC1 | c.259A>T (p.Asn87Tyr) n.485A>T c.115A>T (p.Asn39Tyr) c.340A>T (p.Asn114Tyr) | |
1 | g.173914702T>C | CA343777751 | SERPINC1 | c.259A>G (p.Asn87Asp) n.485A>G c.115A>G (p.Asn39Asp) c.340A>G (p.Asn114Asp) | |
1 | g.173914702T>G | CA343777753 | SERPINC1 | c.259A>C (p.Asn87His) n.485A>C c.115A>C (p.Asn39His) c.340A>C (p.Asn114His) | |
1 | g.173914703G>A | CA421943048 | SERPINC1 | c.258C>T (p.Ala86=) n.484C>T c.114C>T (p.Ala38=) c.339C>T (p.Ala113=) | |
1 | g.173914703G>C | CA421943049 | SERPINC1 | c.258C>G (p.Ala86=) n.484C>G c.114C>G (p.Ala38=) c.339C>G (p.Ala113=) | |
1 | g.173914703G>T | CA421943050 | SERPINC1 | c.258C>A (p.Ala86=) n.484C>A c.114C>A (p.Ala38=) c.339C>A (p.Ala113=) | |
1 | g.173914704G>A | CA343777755 | SERPINC1 | c.257C>T (p.Ala86Val) n.483C>T c.113C>T (p.Ala38Val) c.338C>T (p.Ala113Val) | |
1 | g.173914704G>C | CA343777756 | SERPINC1 | c.257C>G (p.Ala86Gly) n.483C>G c.113C>G (p.Ala38Gly) c.338C>G (p.Ala113Gly) | |
1 | g.173914704G>T | CA343777758 | SERPINC1 | c.257C>A (p.Ala86Asp) n.483C>A c.113C>A (p.Ala38Asp) c.338C>A (p.Ala113Asp) | |
1 | g.173914705C>A | CA343777763 | SERPINC1 | c.256G>T (p.Ala86Ser) n.482G>T c.112G>T (p.Ala38Ser) c.337G>T (p.Ala113Ser) | |
1 | g.173914705C>G | CA343777760 | SERPINC1 | c.256G>C (p.Ala86Pro) n.482G>C c.112G>C (p.Ala38Pro) c.337G>C (p.Ala113Pro) | |
1 | g.173914705C>T | CA343777761 | SERPINC1 | c.256G>A (p.Ala86Thr) n.482G>A c.112G>A (p.Ala38Thr) c.337G>A (p.Ala113Thr) | |
1 | g.173914706C>A | CA343777765 | SERPINC1 | c.255G>T (p.Lys85Asn) n.481G>T c.111G>T (p.Lys37Asn) c.336G>T (p.Lys112Asn) | |
1 | g.173914706C>G | CA343777767 | SERPINC1 | c.255G>C (p.Lys85Asn) n.481G>C c.111G>C (p.Lys37Asn) c.336G>C (p.Lys112Asn) | |
1 | g.173914706C>T | CA421943052 | SERPINC1 | c.255G>A (p.Lys85=) n.481G>A c.111G>A (p.Lys37=) c.336G>A (p.Lys112=) | |
1 | g.173914707T>A | CA343777769 | SERPINC1 | c.254A>T (p.Lys85Met) n.480A>T c.110A>T (p.Lys37Met) c.335A>T (p.Lys112Met) | |
1 | g.173914707T>C | CA343777770 | SERPINC1 | c.254A>G (p.Lys85Arg) n.480A>G c.110A>G (p.Lys37Arg) c.335A>G (p.Lys112Arg) | |
1 | g.173914707T>G | CA343777775 | SERPINC1 | c.254A>C (p.Lys85Thr) n.480A>C c.110A>C (p.Lys37Thr) c.335A>C (p.Lys112Thr) | |
1 | g.173914708T>A | CA343777778 | SERPINC1 | c.253A>T (p.Lys85Ter) n.479A>T c.109A>T (p.Lys37Ter) c.334A>T (p.Lys112Ter) | |
1 | g.173914708T>C | CA343777776 | SERPINC1 | c.253A>G (p.Lys85Glu) n.479A>G c.109A>G (p.Lys37Glu) c.334A>G (p.Lys112Glu) | |
1 | g.173914708T>G | CA343777777 | SERPINC1 | c.253A>C (p.Lys85Gln) n.479A>C c.109A>C (p.Lys37Gln) c.334A>C (p.Lys112Gln) | gnomAD v4 |
1 | g.173914709G>A | CA421943054 | SERPINC1 | c.252C>T (p.Ser84=) n.478C>T c.108C>T (p.Ser36=) c.333C>T (p.Ser111=) | dbSNP COSMIC |
1 | g.173914709G>C | CA421943055 | SERPINC1 | c.252C>G (p.Ser84=) n.478C>G c.108C>G (p.Ser36=) c.333C>G (p.Ser111=) | |
1 | g.173914709G>T | CA421943056 | SERPINC1 | c.252C>A (p.Ser84=) n.478C>A c.108C>A (p.Ser36=) c.333C>A (p.Ser111=) | |
1 | g.173914710G>A | CA343777779 | SERPINC1 | c.251C>T (p.Ser84Phe) n.477C>T c.107C>T (p.Ser36Phe) c.332C>T (p.Ser111Phe) | |
1 | g.173914710G>C | CA343777780 | SERPINC1 | c.251C>G (p.Ser84Cys) n.477C>G c.107C>G (p.Ser36Cys) c.332C>G (p.Ser111Cys) | |
1 | g.173914710G>T | CA343777781 | SERPINC1 | c.251C>A (p.Ser84Tyr) n.477C>A c.107C>A (p.Ser36Tyr) c.332C>A (p.Ser111Tyr) | |
1 | g.173914711A= | CA1207938960 | SERPINC1 | c.250T= (p.Ser84=) n.476T= c.106T= (p.Ser36=) c.331T= (p.Ser111=) | |
1 | g.173914711A>C | CA343777782 | SERPINC1 | c.250T>G (p.Ser84Ala) n.476T>G c.106T>G (p.Ser36Ala) c.331T>G (p.Ser111Ala) | |
1 | g.173914711A>G | CA343777783 | SERPINC1 | c.250T>C (p.Ser84Pro) n.476T>C c.106T>C (p.Ser36Pro) c.331T>C (p.Ser111Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914711A>T | CA343777785 | SERPINC1 | c.250T>A (p.Ser84Thr) n.476T>A c.106T>A (p.Ser36Thr) c.331T>A (p.Ser111Thr) | |
1 | g.173914712C>A | CA421943060 | SERPINC1 | c.249G>T (p.Leu83=) n.475G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) | |
1 | g.173914712C= | CA1207938961 | SERPINC1 | c.249G= (p.Leu83=) n.475G= c.105G= (p.Leu35=) c.330G= (p.Leu110=) | |
1 | g.173914712C>G | CA421943062 | SERPINC1 | c.249G>C (p.Leu83=) n.475G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914712C>T | CA421943061 | SERPINC1 | c.249G>A (p.Leu83=) n.475G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) | |
1 | g.173914713A>C | CA343777787 | SERPINC1 | c.248T>G (p.Leu83Arg) n.474T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) | |
1 | g.173914713A>G | CA343777789 | SERPINC1 | c.248T>C (p.Leu83Pro) n.474T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) | |
1 | g.173914713A>T | CA343777791 | SERPINC1 | c.248T>A (p.Leu83Gln) n.474T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) | |
1 | g.173914714G>A | CA421943064 | SERPINC1 | c.247C>T (p.Leu83=) n.473C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) | |
1 | g.173914714G>C | CA343777792 | SERPINC1 | c.247C>G (p.Leu83Val) n.473C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) | |
1 | g.173914714G>T | CA343777793 | SERPINC1 | c.247C>A (p.Leu83Met) n.473C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) | |
1 | g.173914715T>A | CA343777795 | SERPINC1 | c.246A>T (p.Glu82Asp) n.472A>T c.102A>T (p.Glu34Asp) c.327A>T (p.Glu109Asp) | |
1 | g.173914715T>C | CA421943065 | SERPINC1 | c.246A>G (p.Glu82=) n.472A>G c.102A>G (p.Glu34=) c.327A>G (p.Glu109=) | dbSNP gnomAD v4 |
1 | g.173914715T>G | CA343777797 | SERPINC1 | c.246A>C (p.Glu82Asp) n.472A>C c.102A>C (p.Glu34Asp) c.327A>C (p.Glu109Asp) | |
1 | g.173914715T= | CA1207938962 | SERPINC1 | c.246A= (p.Glu82=) n.472A= c.102A= (p.Glu34=) c.327A= (p.Glu109=) | |
1 | g.173914716T>A | CA343777799 | SERPINC1 | c.245A>T (p.Glu82Val) n.471A>T c.101A>T (p.Glu34Val) c.326A>T (p.Glu109Val) | |
1 | g.173914716T>C | CA343777803 | SERPINC1 | c.245A>G (p.Glu82Gly) n.471A>G c.101A>G (p.Glu34Gly) c.326A>G (p.Glu109Gly) | |
1 | g.173914716T>G | CA343777801 | SERPINC1 | c.245A>C (p.Glu82Ala) n.471A>C c.101A>C (p.Glu34Ala) c.326A>C (p.Glu109Ala) | |
1 | g.173914717C>A | CA343777805 | SERPINC1 | c.244G>T (p.Glu82Ter) n.470G>T c.100G>T (p.Glu34Ter) c.325G>T (p.Glu109Ter) | ClinVar dbSNP |
1 | g.173914717C= | CA1207938963 | SERPINC1 | c.244G= (p.Glu82=) n.470G= c.100G= (p.Glu34=) c.325G= (p.Glu109=) | |
1 | g.173914717C>G | CA343777808 | SERPINC1 | c.244G>C (p.Glu82Gln) n.470G>C c.100G>C (p.Glu34Gln) c.325G>C (p.Glu109Gln) | dbSNP |
1 | g.173914717C>T | CA343777809 | SERPINC1 | c.244G>A (p.Glu82Lys) n.470G>A c.100G>A (p.Glu34Lys) c.325G>A (p.Glu109Lys) | dbSNP gnomAD v4 |
1 | g.173914718C>A | CA343777811 | SERPINC1 | c.243G>T (p.Trp81Cys) n.469G>T c.99G>T (p.Trp33Cys) c.324G>T (p.Trp108Cys) | |
1 | g.173914718C>G | CA343777813 | SERPINC1 | c.243G>C (p.Trp81Cys) n.469G>C c.99G>C (p.Trp33Cys) c.324G>C (p.Trp108Cys) | |
1 | g.173914718C>T | CA343777815 | SERPINC1 | c.243G>A (p.Trp81Ter) n.469G>A c.99G>A (p.Trp33Ter) c.324G>A (p.Trp108Ter) | ClinVar |
1 | g.173914719C>A | CA343777816 | SERPINC1 | c.242G>T (p.Trp81Leu) n.468G>T c.98G>T (p.Trp33Leu) c.323G>T (p.Trp108Leu) | |
1 | g.173914719C>G | CA343777818 | SERPINC1 | c.242G>C (p.Trp81Ser) n.468G>C c.98G>C (p.Trp33Ser) c.323G>C (p.Trp108Ser) | |
1 | g.173914719C>T | CA343777820 | SERPINC1 | c.242G>A (p.Trp81Ter) n.468G>A c.98G>A (p.Trp33Ter) c.323G>A (p.Trp108Ter) | |
1 | g.173914720A>C | CA343777822 | SERPINC1 | c.241T>G (p.Trp81Gly) n.467T>G c.97T>G (p.Trp33Gly) c.322T>G (p.Trp108Gly) | |
1 | g.173914720A>G | CA343777824 | SERPINC1 | c.241T>C (p.Trp81Arg) n.467T>C c.97T>C (p.Trp33Arg) c.322T>C (p.Trp108Arg) | |
1 | g.173914720A>T | CA343777826 | SERPINC1 | c.241T>A (p.Trp81Arg) n.467T>A c.97T>A (p.Trp33Arg) c.322T>A (p.Trp108Arg) | |
1 | g.173914721G>A | CA421943070 | SERPINC1 | c.240C>T (p.Val80=) n.466C>T c.96C>T (p.Val32=) c.321C>T (p.Val107=) | ClinVar dbSNP |
1 | g.173914721G>C | CA421943071 | SERPINC1 | c.240C>G (p.Val80=) n.466C>G c.96C>G (p.Val32=) c.321C>G (p.Val107=) | |
1 | g.173914721G>T | CA421943072 | SERPINC1 | c.240C>A (p.Val80=) n.466C>A c.96C>A (p.Val32=) c.321C>A (p.Val107=) | |
1 | g.173914722A>C | CA343777830 | SERPINC1 | c.239T>G (p.Val80Gly) n.465T>G c.95T>G (p.Val32Gly) c.320T>G (p.Val107Gly) | |
1 | g.173914722A>G | CA343777829 | SERPINC1 | c.239T>C (p.Val80Ala) n.465T>C c.95T>C (p.Val32Ala) c.320T>C (p.Val107Ala) | |
1 | g.173914722A>T | CA343777827 | SERPINC1 | c.239T>A (p.Val80Asp) n.465T>A c.95T>A (p.Val32Asp) c.320T>A (p.Val107Asp) | |
1 | g.173914722dup | CA2582322135 | SERPINC1 | c.239dup (p.Trp81LeufsTer24) n.465dup c.95dup (p.Trp33LeufsTer24) c.320dup (p.Trp108LeufsTer24) | |
1 | g.173914722_173914725del | CA2586964442 | SERPINC1 | c.236_239del (p.Arg79ProfsTer?) n.462_465del c.92_95del (p.Arg31ProfsTer?) c.317_320del (p.Arg106ProfsTer?) | |
1 | g.173914723C>A | CA343777832 | SERPINC1 | c.238G>T (p.Val80Phe) n.464G>T c.94G>T (p.Val32Phe) c.319G>T (p.Val107Phe) | |
1 | g.173914723C>G | CA343777833 | SERPINC1 | c.238G>C (p.Val80Leu) n.464G>C c.94G>C (p.Val32Leu) c.319G>C (p.Val107Leu) | |
1 | g.173914723C>T | CA343777835 | SERPINC1 | c.238G>A (p.Val80Ile) n.464G>A c.94G>A (p.Val32Ile) c.319G>A (p.Val107Ile) | |
1 | g.173914724A= | CA1207938965 | SERPINC1 | c.237T= (p.Arg79=) n.463T= c.93T= (p.Arg31=) c.318T= (p.Arg106=) | |
1 | g.173914724A>C | CA421943073 | SERPINC1 | c.237T>G (p.Arg79=) n.463T>G c.93T>G (p.Arg31=) c.318T>G (p.Arg106=) | dbSNP |
1 | g.173914724A>G | CA32782271 | SERPINC1 | c.237T>C (p.Arg79=) n.463T>C c.93T>C (p.Arg31=) c.318T>C (p.Arg106=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914724A>T | CA421943074 | SERPINC1 | c.237T>A (p.Arg79=) n.463T>A c.93T>A (p.Arg31=) c.318T>A (p.Arg106=) | |
1 | g.173914724dup | CA2499214323 | SERPINC1 | c.237dup (p.Val80CysfsTer25) n.463dup c.93dup (p.Val32CysfsTer25) c.318dup (p.Val107CysfsTer25) | ClinVar dbSNP |
1 | g.173914724_173914732delinsACGCCGGTT | CA1207938964 | SERPINC1 | c.229_237delinsAACCGGCGT (p.Asn77=) n.455_463delinsAACCGGCGT c.85_93delinsAACCGGCGT (p.Asn29=) c.310_318delinsAACCGGCGT (p.Asn104=) | |
1 | g.173914725C>A | CA343777839 | SERPINC1 | c.236G>T (p.Arg79Leu) n.462G>T c.92G>T (p.Arg31Leu) c.317G>T (p.Arg106Leu) | COSMIC |
1 | g.173914725C= | CA1141581231 | SERPINC1 | c.236G= (p.Arg79=) n.462G= c.92G= (p.Arg31=) c.317G= (p.Arg106=) | |
1 | g.173914725C>G | CA343777840 | SERPINC1 | c.236G>C (p.Arg79Pro) n.462G>C c.92G>C (p.Arg31Pro) c.317G>C (p.Arg106Pro) | |
1 | g.173914725C>T | CA210758 | SERPINC1 | c.236G>A (p.Arg79His) n.462G>A c.92G>A (p.Arg31His) c.317G>A (p.Arg106His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914726_173914727del | CA2649174714 | SERPINC1 | c.235_236del (p.Arg79CysfsTer25) n.461_462del c.91_92del (p.Arg31CysfsTer25) c.316_317del (p.Arg106CysfsTer25) | gnomAD v4 |
1 | g.173914725_173914728dup | CA2579753954 | SERPINC1 | c.233_236dup (p.Val80AlafsTer26) n.459_462dup c.89_92dup (p.Val32AlafsTer26) c.314_317dup (p.Val107AlafsTer26) | |
1 | g.173914725_173914732delinsTCCC | CA32782275 | SERPINC1 | c.229_236delinsGGGA (p.Asn77GlyfsTer?) n.455_462delinsGGGA c.85_92delinsGGGA (p.Asn29GlyfsTer?) c.310_317delinsGGGA (p.Asn104GlyfsTer?) | dbSNP |
1 | g.173914725_173914732delinsCGCCGGTT | CA1143355585 | SERPINC1 | c.229_236delinsAACCGGCG (p.Asn77=) n.455_462delinsAACCGGCG c.85_92delinsAACCGGCG (p.Asn29=) c.310_317delinsAACCGGCG (p.Asn104=) | |
1 | g.173914726G>A | CA210748 | SERPINC1 | c.235C>T (p.Arg79Cys) n.461C>T c.91C>T (p.Arg31Cys) c.316C>T (p.Arg106Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914726G>C | CA343777843 | SERPINC1 | c.235C>G (p.Arg79Gly) n.461C>G c.91C>G (p.Arg31Gly) c.316C>G (p.Arg106Gly) | |
1 | g.173914726G= | CA1141581232 | SERPINC1 | c.235C= (p.Arg79=) n.461C= c.91C= (p.Arg31=) c.316C= (p.Arg106=) | |
1 | g.173914726G>T | CA210760 | SERPINC1 | c.235C>A (p.Arg79Ser) n.461C>A c.91C>A (p.Arg31Ser) c.316C>A (p.Arg106Ser) | ClinVar dbSNP |
1 | g.173914727C>A | CA421943076 | SERPINC1 | c.234G>T (p.Arg78=) n.460G>T c.90G>T (p.Arg30=) c.315G>T (p.Arg105=) | |
1 | g.173914727C= | CA1207938966 | SERPINC1 | c.234G= (p.Arg78=) n.460G= c.90G= (p.Arg30=) c.315G= (p.Arg105=) | |
1 | g.173914727C>G | CA421943077 | SERPINC1 | c.234G>C (p.Arg78=) n.460G>C c.90G>C (p.Arg30=) c.315G>C (p.Arg105=) | |
1 | g.173914727C>T | CA421943078 | SERPINC1 | c.234G>A (p.Arg78=) n.460G>A c.90G>A (p.Arg30=) c.315G>A (p.Arg105=) | dbSNP |
1 | g.173914727_173914728del | CA2582321194 | SERPINC1 | c.233_234del (p.Arg78ProfsTer26) n.459_460del c.89_90del (p.Arg30ProfsTer26) c.314_315del (p.Arg105ProfsTer26) | |
1 | g.173914728del | CA2582342979 | SERPINC1 | c.234del (p.Arg79ValfsTer?) n.460del c.90del (p.Arg31ValfsTer?) c.315del (p.Arg106ValfsTer?) | |
1 | g.173914728C>A | CA343777846 | SERPINC1 | c.233G>T (p.Arg78Leu) n.459G>T c.89G>T (p.Arg30Leu) c.314G>T (p.Arg105Leu) | |
1 | g.173914728C= | CA1207938967 | SERPINC1 | c.233G= (p.Arg78=) n.459G= c.89G= (p.Arg30=) c.314G= (p.Arg105=) | |
1 | g.173914728C>G | CA343777848 | SERPINC1 | c.233G>C (p.Arg78Pro) n.459G>C c.89G>C (p.Arg30Pro) c.314G>C (p.Arg105Pro) | |
1 | g.173914728C>T | CA1251448 | SERPINC1 | c.233G>A (p.Arg78Gln) n.459G>A c.89G>A (p.Arg30Gln) c.314G>A (p.Arg105Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914729G>A | CA1251449 | SERPINC1 | c.232C>T (p.Arg78Trp) n.458C>T c.88C>T (p.Arg30Trp) c.313C>T (p.Arg105Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.173914729G>C | CA343777851 | SERPINC1 | c.232C>G (p.Arg78Gly) n.458C>G c.88C>G (p.Arg30Gly) c.313C>G (p.Arg105Gly) | |
1 | g.173914729G= | CA1143979005 | SERPINC1 | c.232C= (p.Arg78=) n.458C= c.88C= (p.Arg30=) c.313C= (p.Arg105=) | |
1 | g.173914729G>T | CA421943079 | SERPINC1 | c.232C>A (p.Arg78=) n.458C>A c.88C>A (p.Arg30=) c.313C>A (p.Arg105=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914730del | CA2582342984 | SERPINC1 | c.232del (p.Arg78GlyfsTer?) n.458del c.88del (p.Arg30GlyfsTer?) c.313del (p.Arg105GlyfsTer?) | |
1 | g.173914730G>A | CA421943080 | SERPINC1 | c.231C>T (p.Asn77=) n.457C>T c.87C>T (p.Asn29=) c.312C>T (p.Asn104=) | gnomAD v4 |
1 | g.173914730G>C | CA343777853 | SERPINC1 | c.231C>G (p.Asn77Lys) n.457C>G c.87C>G (p.Asn29Lys) c.312C>G (p.Asn104Lys) | |
1 | g.173914730G>T | CA343777855 | SERPINC1 | c.231C>A (p.Asn77Lys) n.457C>A c.87C>A (p.Asn29Lys) c.312C>A (p.Asn104Lys) | |
1 | g.173914731T>A | CA343777857 | SERPINC1 | c.230A>T (p.Asn77Ile) n.456A>T c.86A>T (p.Asn29Ile) c.311A>T (p.Asn104Ile) | |
1 | g.173914731T>C | CA343777858 | SERPINC1 | c.230A>G (p.Asn77Ser) n.456A>G c.86A>G (p.Asn29Ser) c.311A>G (p.Asn104Ser) | |
1 | g.173914731T>G | CA343777860 | SERPINC1 | c.230A>C (p.Asn77Thr) n.456A>C c.86A>C (p.Asn29Thr) c.311A>C (p.Asn104Thr) | |
1 | g.173914732T>A | CA343777862 | SERPINC1 | c.229A>T (p.Asn77Tyr) n.455A>T c.85A>T (p.Asn29Tyr) c.310A>T (p.Asn104Tyr) | |
1 | g.173914732T>C | CA343777864 | SERPINC1 | c.229A>G (p.Asn77Asp) n.455A>G c.85A>G (p.Asn29Asp) c.310A>G (p.Asn104Asp) | dbSNP |
1 | g.173914732T>G | CA343777865 | SERPINC1 | c.229A>C (p.Asn77His) n.455A>C c.85A>C (p.Asn29His) c.310A>C (p.Asn104His) | gnomAD v4 |
1 | g.173914733G>A | CA421943081 | SERPINC1 | c.228C>T (p.Thr76=) n.454C>T c.84C>T (p.Thr28=) c.309C>T (p.Thr103=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914733G>C | CA421943083 | SERPINC1 | c.228C>G (p.Thr76=) n.454C>G c.84C>G (p.Thr28=) c.309C>G (p.Thr103=) | |
1 | g.173914733G= | CA1207938968 | SERPINC1 | c.228C= (p.Thr76=) n.454C= c.84C= (p.Thr28=) c.309C= (p.Thr103=) | |
1 | g.173914733G>T | CA421943082 | SERPINC1 | c.228C>A (p.Thr76=) n.454C>A c.84C>A (p.Thr28=) c.309C>A (p.Thr103=) | |
1 | g.173914734G>A | CA32782290 | SERPINC1 | c.227C>T (p.Thr76Ile) n.453C>T c.83C>T (p.Thr28Ile) c.308C>T (p.Thr103Ile) | dbSNP gnomAD v4 |
1 | g.173914734G>C | CA343777868 | SERPINC1 | c.227C>G (p.Thr76Ser) n.453C>G c.83C>G (p.Thr28Ser) c.308C>G (p.Thr103Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914734G= | CA1207938969 | SERPINC1 | c.227C= (p.Thr76=) n.453C= c.83C= (p.Thr28=) c.308C= (p.Thr103=) | |
1 | g.173914734G>T | CA343777870 | SERPINC1 | c.227C>A (p.Thr76Asn) n.453C>A c.83C>A (p.Thr28Asn) c.308C>A (p.Thr103Asn) | |
1 | g.173914735T>A | CA343777872 | SERPINC1 | c.226A>T (p.Thr76Ser) n.452A>T c.82A>T (p.Thr28Ser) c.307A>T (p.Thr103Ser) | |
1 | g.173914735T>C | CA343777875 | SERPINC1 | c.226A>G (p.Thr76Ala) n.452A>G c.82A>G (p.Thr28Ala) c.307A>G (p.Thr103Ala) | |
1 | g.173914735T>G | CA343777878 | SERPINC1 | c.226A>C (p.Thr76Pro) n.452A>C c.82A>C (p.Thr28Pro) c.307A>C (p.Thr103Pro) | |
1 | g.173914736G>A | CA421943084 | SERPINC1 | c.225C>T (p.Ala75=) n.451C>T c.81C>T (p.Ala27=) c.306C>T (p.Ala102=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173914736G>C | CA421943085 | SERPINC1 | c.225C>G (p.Ala75=) n.451C>G c.81C>G (p.Ala27=) c.306C>G (p.Ala102=) | |
1 | g.173914736G= | CA1207938970 | SERPINC1 | c.225C= (p.Ala75=) n.451C= c.81C= (p.Ala27=) c.306C= (p.Ala102=) | |
1 | g.173914736G>T | CA421943086 | SERPINC1 | c.225C>A (p.Ala75=) n.451C>A c.81C>A (p.Ala27=) c.306C>A (p.Ala102=) | COSMIC |
1 | g.173914737G>A | CA343777884 | SERPINC1 | c.224C>T (p.Ala75Val) n.450C>T c.80C>T (p.Ala27Val) c.305C>T (p.Ala102Val) | |
1 | g.173914737G>C | CA343777882 | SERPINC1 | c.224C>G (p.Ala75Gly) n.450C>G c.80C>G (p.Ala27Gly) c.305C>G (p.Ala102Gly) | |
1 | g.173914737G>T | CA343777881 | SERPINC1 | c.224C>A (p.Ala75Asp) n.450C>A c.80C>A (p.Ala27Asp) c.305C>A (p.Ala102Asp) | |
1 | g.173914738C>A | CA343777887 | SERPINC1 | c.223G>T (p.Ala75Ser) n.449G>T c.79G>T (p.Ala27Ser) c.304G>T (p.Ala102Ser) | |
1 | g.173914738C= | CA1207938971 | SERPINC1 | c.223G= (p.Ala75=) n.449G= c.79G= (p.Ala27=) c.304G= (p.Ala102=) | |
1 | g.173914738C>G | CA343777890 | SERPINC1 | c.223G>C (p.Ala75Pro) n.449G>C c.79G>C (p.Ala27Pro) c.304G>C (p.Ala102Pro) | |
1 | g.173914738C>T | CA343777896 | SERPINC1 | c.223G>A (p.Ala75Thr) n.449G>A c.79G>A (p.Ala27Thr) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.173914739C>A | CA343777898 | SERPINC1 | c.222G>T (p.Glu74Asp) n.448G>T c.78G>T (p.Glu26Asp) c.303G>T (p.Glu101Asp) | |
1 | g.173914739C= | CA1207938972 | SERPINC1 | c.222G= (p.Glu74=) n.448G= c.78G= (p.Glu26=) c.303G= (p.Glu101=) | |
1 | g.173914739C>G | CA343777901 | SERPINC1 | c.222G>C (p.Glu74Asp) n.448G>C c.78G>C (p.Glu26Asp) c.303G>C (p.Glu101Asp) | |
1 | g.173914739C>T | CA421943087 | SERPINC1 | c.222G>A (p.Glu74=) n.448G>A c.78G>A (p.Glu26=) c.303G>A (p.Glu101=) | dbSNP |
1 | g.173914740T>A | CA343777905 | SERPINC1 | c.221A>T (p.Glu74Val) n.447A>T c.77A>T (p.Glu26Val) c.302A>T (p.Glu101Val) | |
1 | g.173914740T>C | CA343777907 | SERPINC1 | c.221A>G (p.Glu74Gly) n.447A>G c.77A>G (p.Glu26Gly) c.302A>G (p.Glu101Gly) | gnomAD v4 |
1 | g.173914740T>G | CA343777908 | SERPINC1 | c.221A>C (p.Glu74Ala) n.447A>C c.77A>C (p.Glu26Ala) c.302A>C (p.Glu101Ala) | |
1 | g.173914741C>A | CA343777911 | SERPINC1 | c.220G>T (p.Glu74Ter) n.446G>T c.76G>T (p.Glu26Ter) c.301G>T (p.Glu101Ter) | |
1 | g.173914741C>G | CA343777914 | SERPINC1 | c.220G>C (p.Glu74Gln) n.446G>C c.76G>C (p.Glu26Gln) c.301G>C (p.Glu101Gln) | |
1 | g.173914741C>T | CA343777916 | SERPINC1 | c.220G>A (p.Glu74Lys) n.446G>A c.76G>A (p.Glu26Lys) c.301G>A (p.Glu101Lys) | |
1 | g.173914742C>A | CA421943088 | SERPINC1 | c.219G>T (p.Pro73=) n.445G>T c.75G>T (p.Pro25=) c.300G>T (p.Pro100=) | dbSNP |
1 | g.173914742C= | CA1148335119 | SERPINC1 | c.219G= (p.Pro73=) n.445G= c.75G= (p.Pro25=) c.300G= (p.Pro100=) | |
1 | g.173914742C>G | CA32782293 | SERPINC1 | c.219G>C (p.Pro73=) n.445G>C c.75G>C (p.Pro25=) c.300G>C (p.Pro100=) | dbSNP |
1 | g.173914742C>T | CA1251450 | SERPINC1 | c.219G>A (p.Pro73=) n.445G>A c.75G>A (p.Pro25=) c.300G>A (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.173914743G>A | CA210756 | SERPINC1 | c.218C>T (p.Pro73Leu) n.444C>T c.74C>T (p.Pro25Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914743G>C | CA343777922 | SERPINC1 | c.218C>G (p.Pro73Arg) n.444C>G c.74C>G (p.Pro25Arg) c.299C>G (p.Pro100Arg) | gnomAD v4 |
1 | g.173914743G= | CA1141581235 | SERPINC1 | c.218C= (p.Pro73=) n.444C= c.74C= (p.Pro25=) c.299C= (p.Pro100=) | |
1 | g.173914743G>T | CA343777921 | SERPINC1 | c.218C>A (p.Pro73Gln) n.444C>A c.74C>A (p.Pro25Gln) c.299C>A (p.Pro100Gln) | |
1 | g.173914744G>A | CA343777930 | SERPINC1 | c.217C>T (p.Pro73Ser) n.443C>T c.73C>T (p.Pro25Ser) c.298C>T (p.Pro100Ser) | gnomAD v4 COSMIC |
1 | g.173914744G>C | CA343777929 | SERPINC1 | c.217C>G (p.Pro73Ala) n.443C>G c.73C>G (p.Pro25Ala) c.298C>G (p.Pro100Ala) | |
1 | g.173914744G>T | CA343777931 | SERPINC1 | c.217C>A (p.Pro73Thr) n.443C>A c.73C>A (p.Pro25Thr) c.298C>A (p.Pro100Thr) |