UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903810G>T | CA2649174099 | SERPINC1 | c.*79C>A (n.*79C>A) | gnomAD v4 |
| 1 | g.173903812G>T | CA2649174100 | SERPINC1 | c.*77C>A (n.*77C>A) | gnomAD v4 |
| 1 | g.173903814T>A | CA2649174101 | SERPINC1 | c.*75A>T (n.*75A>T) | gnomAD v4 |
| 1 | g.173903814T= | CA1207934330 | SERPINC1 | c.*75A= (n.*75A=) | |
| 1 | g.173903815G>A | CA2649174102 | SERPINC1 | c.*74C>T (n.*74C>T) | gnomAD v4 |
| 1 | g.173903815G>T | CA2573951869 | SERPINC1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 1 | g.173903816dup | CA1207934331 | SERPINC1 | c.*74dup (n.*74dup) | dbSNP gnomAD v4 |
| 1 | g.173903816G>T | CA2649174103 | SERPINC1 | c.*73C>A (n.*73C>A) | gnomAD v4 |
| 1 | g.173903817A>G | CA2573951871 | SERPINC1 | c.*72T>C (n.*72T>C) | gnomAD v4 |
| 1 | g.173903820T>G | CA2573951881 | SERPINC1 | c.*69A>C (n.*69A>C) | |
| 1 | g.173903822G>C | CA2649174104 | SERPINC1 | c.*67C>G (n.*67C>G) | gnomAD v4 |
| 1 | g.173903822G>T | CA2649174105 | SERPINC1 | c.*67C>A (n.*67C>A) | gnomAD v4 |
| 1 | g.173903822_173903830delinsGTTTGTATT | CA1207934332 | SERPINC1 | c.*59_*67delinsAATACAAAC (n.*59_*67delinsAATACAAAC) | |
| 1 | g.173903824_173903831del | CA1207934333 | SERPINC1 | c.*59_*66del (n.*59_*66del) | dbSNP |
| 1 | g.173903825T>G | CA2649174106 | SERPINC1 | c.*64A>C (n.*64A>C) | gnomAD v4 |
| 1 | g.173903826G>T | CA2649174107 | SERPINC1 | c.*63C>A (n.*63C>A) | gnomAD v4 |
| 1 | g.173903826_173903830delinsGTATT | CA1207934334 | SERPINC1 | c.*59_*63delinsAATAC (n.*59_*63delinsAATAC) | |
| 1 | g.173903827T>A | CA2649174108 | SERPINC1 | c.*62A>T (n.*62A>T) | gnomAD v4 |
| 1 | g.173903832_173903835del | CA1207934335 | SERPINC1 | c.*59_*62del (n.*59_*62del) | dbSNP |
| 1 | g.173903828A>T | CA2649174109 | SERPINC1 | c.*61T>A (n.*61T>A) | gnomAD v4 |
| 1 | g.173903829T>C | CA891309439 | SERPINC1 | c.*60A>G (n.*60A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903829T= | CA1207934336 | SERPINC1 | c.*60A= (n.*60A=) | |
| 1 | g.173903830T>A | CA32777163 | SERPINC1 | c.*59A>T (n.*59A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903830T= | CA1207934337 | SERPINC1 | c.*59A= (n.*59A=) | |
| 1 | g.173903831T>C | CA2649174110 | SERPINC1 | c.*58A>G (n.*58A>G) | gnomAD v4 |
| 1 | g.173903832A>G | CA2573951882 | SERPINC1 | c.*57T>C (n.*57T>C) | dbSNP |
| 1 | g.173903832A>T | CA2746673697 | SERPINC1 | c.*57T>A (n.*57T>A) | |
| 1 | g.173903833T>A | CA2649174111 | SERPINC1 | c.*56A>T (n.*56A>T) | gnomAD v4 |
| 1 | g.173903836T>C | CA1207934339 | SERPINC1 | c.*53A>G (n.*53A>G) | dbSNP |
| 1 | g.173903836T= | CA1207934338 | SERPINC1 | c.*53A= (n.*53A=) | |
| 1 | g.173903837T>C | CA2649174112 | SERPINC1 | c.*52A>G (n.*52A>G) | gnomAD v4 |
| 1 | g.173903838A= | CA1207934340 | SERPINC1 | c.*51T= (n.*51T=) | |
| 1 | g.173903838A>G | CA2649174113 | SERPINC1 | c.*51T>C (n.*51T>C) | gnomAD v4 |
| 1 | g.173903838A>T | CA527298248 | SERPINC1 | c.*51T>A (n.*51T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903839C>A | CA2649174114 | SERPINC1 | c.*50G>T (n.*50G>T) | gnomAD v4 |
| 1 | g.173903839C= | CA1207934341 | SERPINC1 | c.*50G= (n.*50G=) | |
| 1 | g.173903839C>T | CA1251204 | SERPINC1 | c.*50G>A (n.*50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903840_173903842delinsTTC | CA1207934342 | SERPINC1 | c.*47_*49delinsGAA (n.*47_*49delinsGAA) | |
| 1 | g.173903841T>A | CA527298253 | SERPINC1 | c.*48A>T (n.*48A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903841T= | CA1207934343 | SERPINC1 | c.*48A= (n.*48A=) | |
| 1 | g.173903842_173903843del | CA527298251 | SERPINC1 | c.*47_*48del (n.*47_*48del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903842C>A | CA2746673698 | SERPINC1 | c.*47G>T (n.*47G>T) | |
| 1 | g.173903842C= | CA1207934344 | SERPINC1 | c.*47G= (n.*47G=) | |
| 1 | g.173903842C>G | CA1207934345 | SERPINC1 | c.*47G>C (n.*47G>C) | dbSNP |
| 1 | g.173903844G>T | CA2649174115 | SERPINC1 | c.*45C>A (n.*45C>A) | gnomAD v4 |
| 1 | g.173903846T>C | CA2649174116 | SERPINC1 | c.*43A>G (n.*43A>G) | gnomAD v4 |
| 1 | g.173903851A>G | CA2649174117 | SERPINC1 | c.*38T>C (n.*38T>C) | gnomAD v4 |
| 1 | g.173903851A>T | CA2573951892 | SERPINC1 | c.*38T>A (n.*38T>A) | |
| 1 | g.173903852A>G | CA2746673699 | SERPINC1 | c.*37T>C (n.*37T>C) | |
| 1 | g.173903852A>T | CA2649174118 | SERPINC1 | c.*37T>A (n.*37T>A) | dbSNP gnomAD v4 |
| 1 | g.173903853C>T | CA2649174119 | SERPINC1 | c.*36G>A (n.*36G>A) | gnomAD v4 |
| 1 | g.173903854_173903855delinsCA | CA1207934346 | SERPINC1 | c.*34_*35delinsTG (n.*34_*35delinsTG) | |
| 1 | g.173903855A= | CA1144171631 | SERPINC1 | c.*34T= (n.*34T=) | |
| 1 | g.173903855A>G | CA1251207 | SERPINC1 | c.*34T>C (n.*34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903859dup | CA1251206 | SERPINC1 | c.*34dup (n.*34dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903859del | CA1251205 | SERPINC1 | c.*34del (n.*34del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903860T>C | CA32777194 | SERPINC1 | c.*29A>G (n.*29A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903860T>G | CA2649174120 | SERPINC1 | c.*29A>C (n.*29A>C) | gnomAD v4 |
| 1 | g.173903860T= | CA1143736143 | SERPINC1 | c.*29A= (n.*29A=) | |
| 1 | g.173903860_173903864delinsTAGGA | CA1207934347 | SERPINC1 | c.*25_*29delinsTCCTA (n.*25_*29delinsTCCTA) | |
| 1 | g.173903863_173903866del | CA891309447 | SERPINC1 | c.*25_*28del (n.*25_*28del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903863G>A | CA2649174121 | SERPINC1 | c.*26C>T (n.*26C>T) | gnomAD v4 |
| 1 | g.173903865A>C | CA2649174122 | SERPINC1 | c.*24T>G (n.*24T>G) | gnomAD v4 |
| 1 | g.173903865A>G | CA2649174123 | SERPINC1 | c.*24T>C (n.*24T>C) | gnomAD v4 |
| 1 | g.173903866G>A | CA2649174124 | SERPINC1 | c.*23C>T (n.*23C>T) | gnomAD v4 |
| 1 | g.173903867A>G | CA2649174125 | SERPINC1 | c.*22T>C (n.*22T>C) | gnomAD v4 |
| 1 | g.173903868G>A | CA2555486788 | SERPINC1 | c.*21C>T (n.*21C>T) | |
| 1 | g.173903868G= | CA1207934348 | SERPINC1 | c.*21C= (n.*21C=) | |
| 1 | g.173903868G>T | CA32777199 | SERPINC1 | c.*21C>A (n.*21C>A) | dbSNP |
| 1 | g.173903869G>A | CA1207934350 | SERPINC1 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
| 1 | g.173903869G>C | CA527298257 | SERPINC1 | c.*20C>G (n.*20C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903869G= | CA1207934349 | SERPINC1 | c.*20C= (n.*20C=) | |
| 1 | g.173903869G>T | CA1207934351 | SERPINC1 | c.*20C>A (n.*20C>A) | dbSNP gnomAD v4 |
| 1 | g.173903871G>A | CA2508759115 | SERPINC1 | c.*18C>T (n.*18C>T) | |
| 1 | g.173903871G= | CA1207934352 | SERPINC1 | c.*18C= (n.*18C=) | |
| 1 | g.173903871G>T | CA1251208 | SERPINC1 | c.*18C>A (n.*18C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903872C= | CA1207934353 | SERPINC1 | c.*17G= (n.*17G=) | |
| 1 | g.173903872C>G | CA1251209 | SERPINC1 | c.*17G>C (n.*17G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903872C>T | CA2571826113 | SERPINC1 | c.*17G>A (n.*17G>A) | |
| 1 | g.173903874_173903875insG | CA646271017 | SERPINC1 | c.*14_*15insC (n.*14_*15insC) | COSMIC COSMIC |
| 1 | g.173903877A= | CA1207934354 | SERPINC1 | c.*12T= (n.*12T=) | |
| 1 | g.173903877A>C | CA1251210 | SERPINC1 | c.*12T>G (n.*12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903878A= | CA1207934355 | SERPINC1 | c.*11T= (n.*11T=) | |
| 1 | g.173903878A>C | CA2649174126 | SERPINC1 | c.*11T>G (n.*11T>G) | gnomAD v4 |
| 1 | g.173903878A>G | CA1009275059 | SERPINC1 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903882_173903884del | CA2560111250 | SERPINC1 | c.*7_*9del (n.*7_*9del) | |
| 1 | g.173903883A= | CA1207934356 | SERPINC1 | c.*6T= (n.*6T=) | |
| 1 | g.173903883A>G | CA32777211 | SERPINC1 | c.*6T>C (n.*6T>C) | dbSNP gnomAD v4 |
| 1 | g.173903884_173903886dup | CA2649174127 | SERPINC1 | c.*4_*6dup (n.*4_*6dup) | gnomAD v4 |
| 1 | g.173903885C>A | CA32777215 | SERPINC1 | c.*4G>T (n.*4G>T) | dbSNP |
| 1 | g.173903885C= | CA1207934357 | SERPINC1 | c.*4G= (n.*4G=) | |
| 1 | g.173903886A>T | CA2649174128 | SERPINC1 | c.*3T>A (n.*3T>A) | gnomAD v4 |
| 1 | g.173903887T>C | CA2537112818 | SERPINC1 | c.*2A>G (n.*2A>G) | |
| 1 | g.173903890del | CA2573951909 | SERPINC1 | c.*2del (n.*2del) | |
| 1 | g.173903889T>A | CA343771970 | SERPINC1 | c.1395A>T (p.Ter465Tyr) c.780A>T (p.Ter260Tyr) c.1251A>T (p.Ter417Tyr) c.1518A>T (p.Ter506Tyr) c.1476A>T (p.Ter492Tyr) c.1374A>T (p.Ter458Tyr) c.1338A>T (p.Ter446Tyr) c.1179A>T (p.Ter393Tyr) | |
| 1 | g.173903889T>C | CA421821125 | SERPINC1 | c.1395A>G (p.Ter465=) c.780A>G (p.Ter260=) c.1251A>G (p.Ter417=) c.1518A>G (p.Ter506=) c.1476A>G (p.Ter492=) c.1374A>G (p.Ter458=) c.1338A>G (p.Ter446=) c.1179A>G (p.Ter393=) | |
| 1 | g.173903889T>G | CA343771973 | SERPINC1 | c.1395A>C (p.Ter465Tyr) c.780A>C (p.Ter260Tyr) c.1251A>C (p.Ter417Tyr) c.1518A>C (p.Ter506Tyr) c.1476A>C (p.Ter492Tyr) c.1374A>C (p.Ter458Tyr) c.1338A>C (p.Ter446Tyr) c.1179A>C (p.Ter393Tyr) | ClinVar |
| 1 | g.173903892_173903895dup | CA2649174129 | SERPINC1 | c.1392_1395dup (n.1392_1395dup) c.777_780dup (n.777_780dup) c.1248_1251dup (n.1248_1251dup) c.1515_1518dup (n.1515_1518dup) c.1473_1476dup (n.1473_1476dup) c.1371_1374dup (n.1371_1374dup) c.1335_1338dup (n.1335_1338dup) c.1176_1179dup (n.1176_1179dup) | gnomAD v4 |
| 1 | g.173903892_173903895del | CA2586967694 | SERPINC1 | c.1392_1395del (p.Ter465MetextTer14) c.777_780del (p.Ter260MetextTer14) c.1248_1251del (p.Ter417MetextTer14) c.1515_1518del (p.Ter506MetextTer14) c.1473_1476del (p.Ter492MetextTer14) c.1371_1374del (p.Ter458MetextTer14) c.1335_1338del (p.Ter446MetextTer14) c.1176_1179del (p.Ter393MetextTer14) | |
| 1 | g.173903890T>A | CA343771976 | SERPINC1 | c.1394A>T (p.Ter465Leu) c.779A>T (p.Ter260Leu) c.1250A>T (p.Ter417Leu) c.1517A>T (p.Ter506Leu) c.1475A>T (p.Ter492Leu) c.1373A>T (p.Ter458Leu) c.1337A>T (p.Ter446Leu) c.1178A>T (p.Ter393Leu) | |
| 1 | g.173903890T>C | CA421821132 | SERPINC1 | c.1394A>G (p.Ter465=) c.779A>G (p.Ter260=) c.1250A>G (p.Ter417=) c.1517A>G (p.Ter506=) c.1475A>G (p.Ter492=) c.1373A>G (p.Ter458=) c.1337A>G (p.Ter446=) c.1178A>G (p.Ter393=) | |
| 1 | g.173903890T>G | CA343771979 | SERPINC1 | c.1394A>C (p.Ter465Ser) c.779A>C (p.Ter260Ser) c.1250A>C (p.Ter417Ser) c.1517A>C (p.Ter506Ser) c.1475A>C (p.Ter492Ser) c.1373A>C (p.Ter458Ser) c.1337A>C (p.Ter446Ser) c.1178A>C (p.Ter393Ser) | |
| 1 | g.173903891A= | CA1207934358 | SERPINC1 | c.1393T= (p.Ter465=) c.778T= (p.Ter260=) c.1249T= (p.Ter417=) c.1516T= (p.Ter506=) c.1474T= (p.Ter492=) c.1372T= (p.Ter458=) c.1336T= (p.Ter446=) c.1177T= (p.Ter393=) | |
| 1 | g.173903891A>C | CA343771983 | SERPINC1 | c.1393T>G (p.Ter465Glu) c.778T>G (p.Ter260Glu) c.1249T>G (p.Ter417Glu) c.1516T>G (p.Ter506Glu) c.1474T>G (p.Ter492Glu) c.1372T>G (p.Ter458Glu) c.1336T>G (p.Ter446Glu) c.1177T>G (p.Ter393Glu) | |
| 1 | g.173903891A>G | CA343771985 | SERPINC1 | c.1393T>C (p.Ter465Gln) c.778T>C (p.Ter260Gln) c.1249T>C (p.Ter417Gln) c.1516T>C (p.Ter506Gln) c.1474T>C (p.Ter492Gln) c.1372T>C (p.Ter458Gln) c.1336T>C (p.Ter446Gln) c.1177T>C (p.Ter393Gln) | ClinVar dbSNP |
| 1 | g.173903891A>T | CA343771987 | SERPINC1 | c.1393T>A (p.Ter465Lys) c.778T>A (p.Ter260Lys) c.1249T>A (p.Ter417Lys) c.1516T>A (p.Ter506Lys) c.1474T>A (p.Ter492Lys) c.1372T>A (p.Ter458Lys) c.1336T>A (p.Ter446Lys) c.1177T>A (p.Ter393Lys) | |
| 1 | g.173903892C>A | CA343771989 | SERPINC1 | c.1392G>T (p.Lys464Asn) c.777G>T (p.Lys259Asn) c.1248G>T (p.Lys416Asn) c.1515G>T (p.Lys505Asn) c.1473G>T (p.Lys491Asn) c.1371G>T (p.Lys457Asn) c.1335G>T (p.Lys445Asn) c.1176G>T (p.Lys392Asn) | |
| 1 | g.173903892C>G | CA343771991 | SERPINC1 | c.1392G>C (p.Lys464Asn) c.777G>C (p.Lys259Asn) c.1248G>C (p.Lys416Asn) c.1515G>C (p.Lys505Asn) c.1473G>C (p.Lys491Asn) c.1371G>C (p.Lys457Asn) c.1335G>C (p.Lys445Asn) c.1176G>C (p.Lys392Asn) | |
| 1 | g.173903892C>T | CA421821142 | SERPINC1 | c.1392G>A (p.Lys464=) c.777G>A (p.Lys259=) c.1248G>A (p.Lys416=) c.1515G>A (p.Lys505=) c.1473G>A (p.Lys491=) c.1371G>A (p.Lys457=) c.1335G>A (p.Lys445=) c.1176G>A (p.Lys392=) | |
| 1 | g.173903892_173903897del | CA2572092707 | SERPINC1 | c.1387_1392del (p.Val463_Lys464del) c.772_777del (p.Val258_Lys259del) c.1243_1248del (p.Val415_Lys416del) c.1510_1515del (p.Val504_Lys505del) c.1468_1473del (p.Val490_Lys491del) c.1366_1371del (p.Val456_Lys457del) c.1330_1335del (p.Val444_Lys445del) c.1171_1176del (p.Val391_Lys392del) | |
| 1 | g.173903893T>A | CA343771993 | SERPINC1 | c.1391A>T (p.Lys464Met) c.776A>T (p.Lys259Met) c.1247A>T (p.Lys416Met) c.1514A>T (p.Lys505Met) c.1472A>T (p.Lys491Met) c.1370A>T (p.Lys457Met) c.1334A>T (p.Lys445Met) c.1175A>T (p.Lys392Met) | |
| 1 | g.173903893T>C | CA343771994 | SERPINC1 | c.1391A>G (p.Lys464Arg) c.776A>G (p.Lys259Arg) c.1247A>G (p.Lys416Arg) c.1514A>G (p.Lys505Arg) c.1472A>G (p.Lys491Arg) c.1370A>G (p.Lys457Arg) c.1334A>G (p.Lys445Arg) c.1175A>G (p.Lys392Arg) | |
| 1 | g.173903893T>G | CA343771995 | SERPINC1 | c.1391A>C (p.Lys464Thr) c.776A>C (p.Lys259Thr) c.1247A>C (p.Lys416Thr) c.1514A>C (p.Lys505Thr) c.1472A>C (p.Lys491Thr) c.1370A>C (p.Lys457Thr) c.1334A>C (p.Lys445Thr) c.1175A>C (p.Lys392Thr) | |
| 1 | g.173903894dup | CA2586967696 | SERPINC1 | c.1391dup (p.Ter465ValextTer19) c.776dup (p.Ter260ValextTer19) c.1247dup (p.Ter417ValextTer19) c.1514dup (p.Ter506ValextTer19) c.1472dup (p.Ter492ValextTer19) c.1370dup (p.Ter458ValextTer19) c.1334dup (p.Ter446ValextTer19) c.1175dup (p.Ter393ValextTer19) | |
| 1 | g.173903893_173903894dup | CA2586967695 | SERPINC1 | c.1390_1391dup (p.Ter465SerextTer16) c.775_776dup (p.Ter260SerextTer16) c.1246_1247dup (p.Ter417SerextTer16) c.1513_1514dup (p.Ter506SerextTer16) c.1471_1472dup (p.Ter492SerextTer16) c.1369_1370dup (p.Ter458SerextTer16) c.1333_1334dup (p.Ter446SerextTer16) c.1174_1175dup (p.Ter393SerextTer16) | |
| 1 | g.173903894T>A | CA343771998 | SERPINC1 | c.1390A>T (p.Lys464Ter) c.775A>T (p.Lys259Ter) c.1246A>T (p.Lys416Ter) c.1513A>T (p.Lys505Ter) c.1471A>T (p.Lys491Ter) c.1369A>T (p.Lys457Ter) c.1333A>T (p.Lys445Ter) c.1174A>T (p.Lys392Ter) | |
| 1 | g.173903894T>C | CA343772000 | SERPINC1 | c.1390A>G (p.Lys464Glu) c.775A>G (p.Lys259Glu) c.1246A>G (p.Lys416Glu) c.1513A>G (p.Lys505Glu) c.1471A>G (p.Lys491Glu) c.1369A>G (p.Lys457Glu) c.1333A>G (p.Lys445Glu) c.1174A>G (p.Lys392Glu) | |
| 1 | g.173903894T>G | CA343772001 | SERPINC1 | c.1390A>C (p.Lys464Gln) c.775A>C (p.Lys259Gln) c.1246A>C (p.Lys416Gln) c.1513A>C (p.Lys505Gln) c.1471A>C (p.Lys491Gln) c.1369A>C (p.Lys457Gln) c.1333A>C (p.Lys445Gln) c.1174A>C (p.Lys392Gln) | |
| 1 | g.173903894T= | CA1207934359 | SERPINC1 | c.1390A= (p.Lys464=) c.775A= (p.Lys259=) c.1246A= (p.Lys416=) c.1513A= (p.Lys505=) c.1471A= (p.Lys491=) c.1369A= (p.Lys457=) c.1333A= (p.Lys445=) c.1174A= (p.Lys392=) | |
| 1 | g.173903895A>C | CA421821152 | SERPINC1 | c.1389T>G (p.Val463=) c.774T>G (p.Val258=) c.1245T>G (p.Val415=) c.1512T>G (p.Val504=) c.1470T>G (p.Val490=) c.1368T>G (p.Val456=) c.1332T>G (p.Val444=) c.1173T>G (p.Val391=) | |
| 1 | g.173903895A>G | CA421821154 | SERPINC1 | c.1389T>C (p.Val463=) c.774T>C (p.Val258=) c.1245T>C (p.Val415=) c.1512T>C (p.Val504=) c.1470T>C (p.Val490=) c.1368T>C (p.Val456=) c.1332T>C (p.Val444=) c.1173T>C (p.Val391=) | COSMIC |
| 1 | g.173903895A>T | CA421821156 | SERPINC1 | c.1389T>A (p.Val463=) c.774T>A (p.Val258=) c.1245T>A (p.Val415=) c.1512T>A (p.Val504=) c.1470T>A (p.Val490=) c.1368T>A (p.Val456=) c.1332T>A (p.Val444=) c.1173T>A (p.Val391=) | |
| 1 | g.173903895_173903898dup | CA527601309 | SERPINC1 | c.1386_1389dup (p.Lys464CysfsTer2) c.771_774dup (p.Lys259CysfsTer2) c.1242_1245dup (p.Lys416CysfsTer2) c.1509_1512dup (p.Lys505CysfsTer2) c.1467_1470dup (p.Lys491CysfsTer2) c.1365_1368dup (p.Lys457CysfsTer2) c.1329_1332dup (p.Lys445CysfsTer2) c.1170_1173dup (p.Lys392CysfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903896A>C | CA343772006 | SERPINC1 | c.1388T>G (p.Val463Gly) c.773T>G (p.Val258Gly) c.1244T>G (p.Val415Gly) c.1511T>G (p.Val504Gly) c.1469T>G (p.Val490Gly) c.1367T>G (p.Val456Gly) c.1331T>G (p.Val444Gly) c.1172T>G (p.Val391Gly) | |
| 1 | g.173903896A>G | CA343772007 | SERPINC1 | c.1388T>C (p.Val463Ala) c.773T>C (p.Val258Ala) c.1244T>C (p.Val415Ala) c.1511T>C (p.Val504Ala) c.1469T>C (p.Val490Ala) c.1367T>C (p.Val456Ala) c.1331T>C (p.Val444Ala) c.1172T>C (p.Val391Ala) | ClinVar gnomAD v4 |
| 1 | g.173903896A>T | CA343772004 | SERPINC1 | c.1388T>A (p.Val463Asp) c.773T>A (p.Val258Asp) c.1244T>A (p.Val415Asp) c.1511T>A (p.Val504Asp) c.1469T>A (p.Val490Asp) c.1367T>A (p.Val456Asp) c.1331T>A (p.Val444Asp) c.1172T>A (p.Val391Asp) | |
| 1 | g.173903897C>A | CA343772010 | SERPINC1 | c.1387G>T (p.Val463Phe) c.772G>T (p.Val258Phe) c.1243G>T (p.Val415Phe) c.1510G>T (p.Val504Phe) c.1468G>T (p.Val490Phe) c.1366G>T (p.Val456Phe) c.1330G>T (p.Val444Phe) c.1171G>T (p.Val391Phe) | |
| 1 | g.173903897C>G | CA343772012 | SERPINC1 | c.1387G>C (p.Val463Leu) c.772G>C (p.Val258Leu) c.1243G>C (p.Val415Leu) c.1510G>C (p.Val504Leu) c.1468G>C (p.Val490Leu) c.1366G>C (p.Val456Leu) c.1330G>C (p.Val444Leu) c.1171G>C (p.Val391Leu) | |
| 1 | g.173903897C>T | CA343772014 | SERPINC1 | c.1387G>A (p.Val463Ile) c.772G>A (p.Val258Ile) c.1243G>A (p.Val415Ile) c.1510G>A (p.Val504Ile) c.1468G>A (p.Val490Ile) c.1366G>A (p.Val456Ile) c.1330G>A (p.Val444Ile) c.1171G>A (p.Val391Ile) | |
| 1 | g.173903898A>C | CA343772015 | SERPINC1 | c.1386T>G (p.Cys462Trp) c.771T>G (p.Cys257Trp) c.1242T>G (p.Cys414Trp) c.1509T>G (p.Cys503Trp) c.1467T>G (p.Cys489Trp) c.1365T>G (p.Cys455Trp) c.1329T>G (p.Cys443Trp) c.1170T>G (p.Cys390Trp) | |
| 1 | g.173903898A>G | CA421821167 | SERPINC1 | c.1386T>C (p.Cys462=) c.771T>C (p.Cys257=) c.1242T>C (p.Cys414=) c.1509T>C (p.Cys503=) c.1467T>C (p.Cys489=) c.1365T>C (p.Cys455=) c.1329T>C (p.Cys443=) c.1170T>C (p.Cys390=) | |
| 1 | g.173903898A>T | CA343772017 | SERPINC1 | c.1386T>A (p.Cys462Ter) c.771T>A (p.Cys257Ter) c.1242T>A (p.Cys414Ter) c.1509T>A (p.Cys503Ter) c.1467T>A (p.Cys489Ter) c.1365T>A (p.Cys455Ter) c.1329T>A (p.Cys443Ter) c.1170T>A (p.Cys390Ter) | |
| 1 | g.173903899C>A | CA343772020 | SERPINC1 | c.1385G>T (p.Cys462Phe) c.770G>T (p.Cys257Phe) c.1241G>T (p.Cys414Phe) c.1508G>T (p.Cys503Phe) c.1466G>T (p.Cys489Phe) c.1364G>T (p.Cys455Phe) c.1328G>T (p.Cys443Phe) c.1169G>T (p.Cys390Phe) | |
| 1 | g.173903899C>G | CA343772021 | SERPINC1 | c.1385G>C (p.Cys462Ser) c.770G>C (p.Cys257Ser) c.1241G>C (p.Cys414Ser) c.1508G>C (p.Cys503Ser) c.1466G>C (p.Cys489Ser) c.1364G>C (p.Cys455Ser) c.1328G>C (p.Cys443Ser) c.1169G>C (p.Cys390Ser) | |
| 1 | g.173903899C>T | CA343772023 | SERPINC1 | c.1385G>A (p.Cys462Tyr) c.770G>A (p.Cys257Tyr) c.1241G>A (p.Cys414Tyr) c.1508G>A (p.Cys503Tyr) c.1466G>A (p.Cys489Tyr) c.1364G>A (p.Cys455Tyr) c.1328G>A (p.Cys443Tyr) c.1169G>A (p.Cys390Tyr) | |
| 1 | g.173903900A>C | CA343772026 | SERPINC1 | c.1384T>G (p.Cys462Gly) c.769T>G (p.Cys257Gly) c.1240T>G (p.Cys414Gly) c.1507T>G (p.Cys503Gly) c.1465T>G (p.Cys489Gly) c.1363T>G (p.Cys455Gly) c.1327T>G (p.Cys443Gly) c.1168T>G (p.Cys390Gly) | |
| 1 | g.173903900A>G | CA343772027 | SERPINC1 | c.1384T>C (p.Cys462Arg) c.769T>C (p.Cys257Arg) c.1240T>C (p.Cys414Arg) c.1507T>C (p.Cys503Arg) c.1465T>C (p.Cys489Arg) c.1363T>C (p.Cys455Arg) c.1327T>C (p.Cys443Arg) c.1168T>C (p.Cys390Arg) | gnomAD v4 |
| 1 | g.173903900A>T | CA343772029 | SERPINC1 | c.1384T>A (p.Cys462Ser) c.769T>A (p.Cys257Ser) c.1240T>A (p.Cys414Ser) c.1507T>A (p.Cys503Ser) c.1465T>A (p.Cys489Ser) c.1363T>A (p.Cys455Ser) c.1327T>A (p.Cys443Ser) c.1168T>A (p.Cys390Ser) | |
| 1 | g.173903900_173903911del | CA2586967697 | SERPINC1 | c.1373_1384del (p.Val458_Cys462delinsGly) c.758_769del (p.Val253_Cys257delinsGly) c.1229_1240del (p.Val410_Cys414delinsGly) c.1496_1507del (p.Val499_Cys503delinsGly) c.1454_1465del (p.Val485_Cys489delinsGly) c.1352_1363del (p.Val451_Cys455delinsGly) c.1316_1327del (p.Val439_Cys443delinsGly) c.1157_1168del (p.Val386_Cys390delinsGly) | |
| 1 | g.173903901A= | CA1143974262 | SERPINC1 | c.1383T= (p.Pro461=) c.768T= (p.Pro256=) c.1239T= (p.Pro413=) c.1506T= (p.Pro502=) c.1464T= (p.Pro488=) c.1362T= (p.Pro454=) c.1326T= (p.Pro442=) c.1167T= (p.Pro389=) | |
| 1 | g.173903901A>C | CA421821176 | SERPINC1 | c.1383T>G (p.Pro461=) c.768T>G (p.Pro256=) c.1239T>G (p.Pro413=) c.1506T>G (p.Pro502=) c.1464T>G (p.Pro488=) c.1362T>G (p.Pro454=) c.1326T>G (p.Pro442=) c.1167T>G (p.Pro389=) | |
| 1 | g.173903901A>G | CA32777219 | SERPINC1 | c.1383T>C (p.Pro461=) c.768T>C (p.Pro256=) c.1239T>C (p.Pro413=) c.1506T>C (p.Pro502=) c.1464T>C (p.Pro488=) c.1362T>C (p.Pro454=) c.1326T>C (p.Pro442=) c.1167T>C (p.Pro389=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903901A>T | CA421821179 | SERPINC1 | c.1383T>A (p.Pro461=) c.768T>A (p.Pro256=) c.1239T>A (p.Pro413=) c.1506T>A (p.Pro502=) c.1464T>A (p.Pro488=) c.1362T>A (p.Pro454=) c.1326T>A (p.Pro442=) c.1167T>A (p.Pro389=) | |
| 1 | g.173903901_173903909del | CA2582342991 | SERPINC1 | c.1375_1383del (p.Ala459_Pro461del) c.760_768del (p.Ala254_Pro256del) c.1231_1239del (p.Ala411_Pro413del) c.1498_1506del (p.Ala500_Pro502del) c.1456_1464del (p.Ala486_Pro488del) c.1354_1362del (p.Ala452_Pro454del) c.1318_1326del (p.Ala440_Pro442del) c.1159_1167del (p.Ala387_Pro389del) | |
| 1 | g.173903902G>A | CA210781 | SERPINC1 | c.1382C>T (p.Pro461Leu) c.767C>T (p.Pro256Leu) c.1238C>T (p.Pro413Leu) c.1505C>T (p.Pro502Leu) c.1463C>T (p.Pro488Leu) c.1361C>T (p.Pro454Leu) c.1325C>T (p.Pro442Leu) c.1166C>T (p.Pro389Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173903902G>C | CA343772036 | SERPINC1 | c.1382C>G (p.Pro461Arg) c.767C>G (p.Pro256Arg) c.1238C>G (p.Pro413Arg) c.1505C>G (p.Pro502Arg) c.1463C>G (p.Pro488Arg) c.1361C>G (p.Pro454Arg) c.1325C>G (p.Pro442Arg) c.1166C>G (p.Pro389Arg) | |
| 1 | g.173903902G= | CA1141581217 | SERPINC1 | c.1382C= (p.Pro461=) c.767C= (p.Pro256=) c.1238C= (p.Pro413=) c.1505C= (p.Pro502=) c.1463C= (p.Pro488=) c.1361C= (p.Pro454=) c.1325C= (p.Pro442=) c.1166C= (p.Pro389=) | |
| 1 | g.173903902G>T | CA343772033 | SERPINC1 | c.1382C>A (p.Pro461His) c.767C>A (p.Pro256His) c.1238C>A (p.Pro413His) c.1505C>A (p.Pro502His) c.1463C>A (p.Pro488His) c.1361C>A (p.Pro454His) c.1325C>A (p.Pro442His) c.1166C>A (p.Pro389His) | |
| 1 | g.173903903G>A | CA343772038 | SERPINC1 | c.1381C>T (p.Pro461Ser) c.766C>T (p.Pro256Ser) c.1237C>T (p.Pro413Ser) c.1504C>T (p.Pro502Ser) c.1462C>T (p.Pro488Ser) c.1360C>T (p.Pro454Ser) c.1324C>T (p.Pro442Ser) c.1165C>T (p.Pro389Ser) | COSMIC |
| 1 | g.173903903G>C | CA343772040 | SERPINC1 | c.1381C>G (p.Pro461Ala) c.766C>G (p.Pro256Ala) c.1237C>G (p.Pro413Ala) c.1504C>G (p.Pro502Ala) c.1462C>G (p.Pro488Ala) c.1360C>G (p.Pro454Ala) c.1324C>G (p.Pro442Ala) c.1165C>G (p.Pro389Ala) | |
| 1 | g.173903903G>T | CA343772042 | SERPINC1 | c.1381C>A (p.Pro461Thr) c.766C>A (p.Pro256Thr) c.1237C>A (p.Pro413Thr) c.1504C>A (p.Pro502Thr) c.1462C>A (p.Pro488Thr) c.1360C>A (p.Pro454Thr) c.1324C>A (p.Pro442Thr) c.1165C>A (p.Pro389Thr) | gnomAD v4 |
| 1 | g.173903903_173903911del | CA2499214317 | SERPINC1 | c.1373_1381del (p.Val458_Pro461delinsAla) c.758_766del (p.Val253_Pro256delinsAla) c.1229_1237del (p.Val410_Pro413delinsAla) c.1496_1504del (p.Val499_Pro502delinsAla) c.1454_1462del (p.Val485_Pro488delinsAla) c.1352_1360del (p.Val451_Pro454delinsAla) c.1316_1324del (p.Val439_Pro442delinsAla) c.1157_1165del (p.Val386_Pro389delinsAla) | ClinVar dbSNP |
| 1 | g.173903904G>A | CA421821191 | SERPINC1 | c.1380C>T (p.Asn460=) c.765C>T (p.Asn255=) c.1236C>T (p.Asn412=) c.1503C>T (p.Asn501=) c.1461C>T (p.Asn487=) c.1359C>T (p.Asn453=) c.1323C>T (p.Asn441=) c.1164C>T (p.Asn388=) | |
| 1 | g.173903904G>C | CA343772045 | SERPINC1 | c.1380C>G (p.Asn460Lys) c.765C>G (p.Asn255Lys) c.1236C>G (p.Asn412Lys) c.1503C>G (p.Asn501Lys) c.1461C>G (p.Asn487Lys) c.1359C>G (p.Asn453Lys) c.1323C>G (p.Asn441Lys) c.1164C>G (p.Asn388Lys) | |
| 1 | g.173903904G>T | CA343772047 | SERPINC1 | c.1380C>A (p.Asn460Lys) c.765C>A (p.Asn255Lys) c.1236C>A (p.Asn412Lys) c.1503C>A (p.Asn501Lys) c.1461C>A (p.Asn487Lys) c.1359C>A (p.Asn453Lys) c.1323C>A (p.Asn441Lys) c.1164C>A (p.Asn388Lys) | gnomAD v4 |
| 1 | g.173903905T>A | CA343772053 | SERPINC1 | c.1379A>T (p.Asn460Ile) c.764A>T (p.Asn255Ile) c.1235A>T (p.Asn412Ile) c.1502A>T (p.Asn501Ile) c.1460A>T (p.Asn487Ile) c.1358A>T (p.Asn453Ile) c.1322A>T (p.Asn441Ile) c.1163A>T (p.Asn388Ile) | |
| 1 | g.173903905T>C | CA343772050 | SERPINC1 | c.1379A>G (p.Asn460Ser) c.764A>G (p.Asn255Ser) c.1235A>G (p.Asn412Ser) c.1502A>G (p.Asn501Ser) c.1460A>G (p.Asn487Ser) c.1358A>G (p.Asn453Ser) c.1322A>G (p.Asn441Ser) c.1163A>G (p.Asn388Ser) | |
| 1 | g.173903905T>G | CA343772051 | SERPINC1 | c.1379A>C (p.Asn460Thr) c.764A>C (p.Asn255Thr) c.1235A>C (p.Asn412Thr) c.1502A>C (p.Asn501Thr) c.1460A>C (p.Asn487Thr) c.1358A>C (p.Asn453Thr) c.1322A>C (p.Asn441Thr) c.1163A>C (p.Asn388Thr) | |
| 1 | g.173903906T>A | CA343772056 | SERPINC1 | c.1378A>T (p.Asn460Tyr) c.763A>T (p.Asn255Tyr) c.1234A>T (p.Asn412Tyr) c.1501A>T (p.Asn501Tyr) c.1459A>T (p.Asn487Tyr) c.1357A>T (p.Asn453Tyr) c.1321A>T (p.Asn441Tyr) c.1162A>T (p.Asn388Tyr) | |
| 1 | g.173903906T>C | CA343772058 | SERPINC1 | c.1378A>G (p.Asn460Asp) c.763A>G (p.Asn255Asp) c.1234A>G (p.Asn412Asp) c.1501A>G (p.Asn501Asp) c.1459A>G (p.Asn487Asp) c.1357A>G (p.Asn453Asp) c.1321A>G (p.Asn441Asp) c.1162A>G (p.Asn388Asp) | |
| 1 | g.173903906T>G | CA343772060 | SERPINC1 | c.1378A>C (p.Asn460His) c.763A>C (p.Asn255His) c.1234A>C (p.Asn412His) c.1501A>C (p.Asn501His) c.1459A>C (p.Asn487His) c.1357A>C (p.Asn453His) c.1321A>C (p.Asn441His) c.1162A>C (p.Asn388His) | |
| 1 | g.173903907G>A | CA421821208 | SERPINC1 | c.1377C>T (p.Ala459=) c.762C>T (p.Ala254=) c.1233C>T (p.Ala411=) c.1500C>T (p.Ala500=) c.1458C>T (p.Ala486=) c.1356C>T (p.Ala452=) c.1320C>T (p.Ala440=) c.1161C>T (p.Ala387=) | |
| 1 | g.173903907G>C | CA421821205 | SERPINC1 | c.1377C>G (p.Ala459=) c.762C>G (p.Ala254=) c.1233C>G (p.Ala411=) c.1500C>G (p.Ala500=) c.1458C>G (p.Ala486=) c.1356C>G (p.Ala452=) c.1320C>G (p.Ala440=) c.1161C>G (p.Ala387=) | |
| 1 | g.173903907G>T | CA421821204 | SERPINC1 | c.1377C>A (p.Ala459=) c.762C>A (p.Ala254=) c.1233C>A (p.Ala411=) c.1500C>A (p.Ala500=) c.1458C>A (p.Ala486=) c.1356C>A (p.Ala452=) c.1320C>A (p.Ala440=) c.1161C>A (p.Ala387=) | |
| 1 | g.173903908del | CA2580060415 | SERPINC1 | c.1377del (p.Asn460ThrfsTer20) c.762del (p.Asn255ThrfsTer20) c.1233del (p.Asn412ThrfsTer20) c.1500del (p.Asn501ThrfsTer20) c.1458del (p.Asn487ThrfsTer20) c.1356del (p.Asn453ThrfsTer20) c.1320del (p.Asn441ThrfsTer20) c.1161del (p.Asn388ThrfsTer20) | |
| 1 | g.173903908G>A | CA343772062 | SERPINC1 | c.1376C>T (p.Ala459Val) c.761C>T (p.Ala254Val) c.1232C>T (p.Ala411Val) c.1499C>T (p.Ala500Val) c.1457C>T (p.Ala486Val) c.1355C>T (p.Ala452Val) c.1319C>T (p.Ala440Val) c.1160C>T (p.Ala387Val) | gnomAD v4 |
| 1 | g.173903908G>C | CA343772064 | SERPINC1 | c.1376C>G (p.Ala459Gly) c.761C>G (p.Ala254Gly) c.1232C>G (p.Ala411Gly) c.1499C>G (p.Ala500Gly) c.1457C>G (p.Ala486Gly) c.1355C>G (p.Ala452Gly) c.1319C>G (p.Ala440Gly) c.1160C>G (p.Ala387Gly) | |
| 1 | g.173903908G= | CA1207934360 | SERPINC1 | c.1376C= (p.Ala459=) c.761C= (p.Ala254=) c.1232C= (p.Ala411=) c.1499C= (p.Ala500=) c.1457C= (p.Ala486=) c.1355C= (p.Ala452=) c.1319C= (p.Ala440=) c.1160C= (p.Ala387=) | |
| 1 | g.173903908G>T | CA343772066 | SERPINC1 | c.1376C>A (p.Ala459Asp) c.761C>A (p.Ala254Asp) c.1232C>A (p.Ala411Asp) c.1499C>A (p.Ala500Asp) c.1457C>A (p.Ala486Asp) c.1355C>A (p.Ala452Asp) c.1319C>A (p.Ala440Asp) c.1160C>A (p.Ala387Asp) | ClinVar dbSNP |
| 1 | g.173903909C>A | CA343772070 | SERPINC1 | c.1375G>T (p.Ala459Ser) c.760G>T (p.Ala254Ser) c.1231G>T (p.Ala411Ser) c.1498G>T (p.Ala500Ser) c.1456G>T (p.Ala486Ser) c.1354G>T (p.Ala452Ser) c.1318G>T (p.Ala440Ser) c.1159G>T (p.Ala387Ser) | |
| 1 | g.173903909C>G | CA343772072 | SERPINC1 | c.1375G>C (p.Ala459Pro) c.760G>C (p.Ala254Pro) c.1231G>C (p.Ala411Pro) c.1498G>C (p.Ala500Pro) c.1456G>C (p.Ala486Pro) c.1354G>C (p.Ala452Pro) c.1318G>C (p.Ala440Pro) c.1159G>C (p.Ala387Pro) | |
| 1 | g.173903909C>T | CA343772068 | SERPINC1 | c.1375G>A (p.Ala459Thr) c.760G>A (p.Ala254Thr) c.1231G>A (p.Ala411Thr) c.1498G>A (p.Ala500Thr) c.1456G>A (p.Ala486Thr) c.1354G>A (p.Ala452Thr) c.1318G>A (p.Ala440Thr) c.1159G>A (p.Ala387Thr) | |
| 1 | g.173903910T>A | CA421821219 | SERPINC1 | c.1374A>T (p.Val458=) c.759A>T (p.Val253=) c.1230A>T (p.Val410=) c.1497A>T (p.Val499=) c.1455A>T (p.Val485=) c.1353A>T (p.Val451=) c.1317A>T (p.Val439=) c.1158A>T (p.Val386=) | |
| 1 | g.173903910T>C | CA421821220 | SERPINC1 | c.1374A>G (p.Val458=) c.759A>G (p.Val253=) c.1230A>G (p.Val410=) c.1497A>G (p.Val499=) c.1455A>G (p.Val485=) c.1353A>G (p.Val451=) c.1317A>G (p.Val439=) c.1158A>G (p.Val386=) | gnomAD v4 |
| 1 | g.173903910T>G | CA421821224 | SERPINC1 | c.1374A>C (p.Val458=) c.759A>C (p.Val253=) c.1230A>C (p.Val410=) c.1497A>C (p.Val499=) c.1455A>C (p.Val485=) c.1353A>C (p.Val451=) c.1317A>C (p.Val439=) c.1158A>C (p.Val386=) |