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.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=) | |
| 1 | g.173903911A= | CA1207934361 | SERPINC1 | c.1373T= (p.Val458=) c.758T= (p.Val253=) c.1229T= (p.Val410=) c.1496T= (p.Val499=) c.1454T= (p.Val485=) c.1352T= (p.Val451=) c.1316T= (p.Val439=) c.1157T= (p.Val386=) | |
| 1 | g.173903911A>C | CA343772074 | SERPINC1 | c.1373T>G (p.Val458Gly) c.758T>G (p.Val253Gly) c.1229T>G (p.Val410Gly) c.1496T>G (p.Val499Gly) c.1454T>G (p.Val485Gly) c.1352T>G (p.Val451Gly) c.1316T>G (p.Val439Gly) c.1157T>G (p.Val386Gly) | |
| 1 | g.173903911A>G | CA1251211 | SERPINC1 | c.1373T>C (p.Val458Ala) c.758T>C (p.Val253Ala) c.1229T>C (p.Val410Ala) c.1496T>C (p.Val499Ala) c.1454T>C (p.Val485Ala) c.1352T>C (p.Val451Ala) c.1316T>C (p.Val439Ala) c.1157T>C (p.Val386Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903911A>T | CA343772075 | SERPINC1 | c.1373T>A (p.Val458Glu) c.758T>A (p.Val253Glu) c.1229T>A (p.Val410Glu) c.1496T>A (p.Val499Glu) c.1454T>A (p.Val485Glu) c.1352T>A (p.Val451Glu) c.1316T>A (p.Val439Glu) c.1157T>A (p.Val386Glu) | |
| 1 | g.173903912C>A | CA343772077 | SERPINC1 | c.1372G>T (p.Val458Leu) c.757G>T (p.Val253Leu) c.1228G>T (p.Val410Leu) c.1495G>T (p.Val499Leu) c.1453G>T (p.Val485Leu) c.1351G>T (p.Val451Leu) c.1315G>T (p.Val439Leu) c.1156G>T (p.Val386Leu) | |
| 1 | g.173903912C>G | CA343772081 | SERPINC1 | c.1372G>C (p.Val458Leu) c.757G>C (p.Val253Leu) c.1228G>C (p.Val410Leu) c.1495G>C (p.Val499Leu) c.1453G>C (p.Val485Leu) c.1351G>C (p.Val451Leu) c.1315G>C (p.Val439Leu) c.1156G>C (p.Val386Leu) | |
| 1 | g.173903912C>T | CA343772083 | SERPINC1 | c.1372G>A (p.Val458Ile) c.757G>A (p.Val253Ile) c.1228G>A (p.Val410Ile) c.1495G>A (p.Val499Ile) c.1453G>A (p.Val485Ile) c.1351G>A (p.Val451Ile) c.1315G>A (p.Val439Ile) c.1156G>A (p.Val386Ile) | |
| 1 | g.173903913T>A | CA343772088 | SERPINC1 | c.1371A>T (p.Arg457Ser) c.756A>T (p.Arg252Ser) c.1227A>T (p.Arg409Ser) c.1494A>T (p.Arg498Ser) c.1452A>T (p.Arg484Ser) c.1350A>T (p.Arg450Ser) c.1314A>T (p.Arg438Ser) c.1155A>T (p.Arg385Ser) | |
| 1 | g.173903913T>C | CA1251212 | SERPINC1 | c.1371A>G (p.Arg457=) c.756A>G (p.Arg252=) c.1227A>G (p.Arg409=) c.1494A>G (p.Arg498=) c.1452A>G (p.Arg484=) c.1350A>G (p.Arg450=) c.1314A>G (p.Arg438=) c.1155A>G (p.Arg385=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903913T>G | CA343772086 | SERPINC1 | c.1371A>C (p.Arg457Ser) c.756A>C (p.Arg252Ser) c.1227A>C (p.Arg409Ser) c.1494A>C (p.Arg498Ser) c.1452A>C (p.Arg484Ser) c.1350A>C (p.Arg450Ser) c.1314A>C (p.Arg438Ser) c.1155A>C (p.Arg385Ser) | |
| 1 | g.173903913T= | CA1207934362 | SERPINC1 | c.1371A= (p.Arg457=) c.756A= (p.Arg252=) c.1227A= (p.Arg409=) c.1494A= (p.Arg498=) c.1452A= (p.Arg484=) c.1350A= (p.Arg450=) c.1314A= (p.Arg438=) c.1155A= (p.Arg385=) | |
| 1 | g.173903914C>A | CA343772090 | SERPINC1 | c.1370G>T (p.Arg457Ile) c.755G>T (p.Arg252Ile) c.1226G>T (p.Arg409Ile) c.1493G>T (p.Arg498Ile) c.1451G>T (p.Arg484Ile) c.1349G>T (p.Arg450Ile) c.1313G>T (p.Arg438Ile) c.1154G>T (p.Arg385Ile) | |
| 1 | g.173903914C= | CA1148869223 | SERPINC1 | c.1370G= (p.Arg457=) c.755G= (p.Arg252=) c.1226G= (p.Arg409=) c.1493G= (p.Arg498=) c.1451G= (p.Arg484=) c.1349G= (p.Arg450=) c.1313G= (p.Arg438=) c.1154G= (p.Arg385=) | |
| 1 | g.173903914C>G | CA343772092 | SERPINC1 | c.1370G>C (p.Arg457Thr) c.755G>C (p.Arg252Thr) c.1226G>C (p.Arg409Thr) c.1493G>C (p.Arg498Thr) c.1451G>C (p.Arg484Thr) c.1349G>C (p.Arg450Thr) c.1313G>C (p.Arg438Thr) c.1154G>C (p.Arg385Thr) | |
| 1 | g.173903914C>T | CA1251213 | SERPINC1 | c.1370G>A (p.Arg457Lys) c.755G>A (p.Arg252Lys) c.1226G>A (p.Arg409Lys) c.1493G>A (p.Arg498Lys) c.1451G>A (p.Arg484Lys) c.1349G>A (p.Arg450Lys) c.1313G>A (p.Arg438Lys) c.1154G>A (p.Arg385Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173903915T>A | CA343772093 | SERPINC1 | c.1369A>T (p.Arg457Ter) c.754A>T (p.Arg252Ter) c.1225A>T (p.Arg409Ter) c.1492A>T (p.Arg498Ter) c.1450A>T (p.Arg484Ter) c.1348A>T (p.Arg450Ter) c.1312A>T (p.Arg438Ter) c.1153A>T (p.Arg385Ter) | |
| 1 | g.173903915T>C | CA343772094 | SERPINC1 | c.1369A>G (p.Arg457Gly) c.754A>G (p.Arg252Gly) c.1225A>G (p.Arg409Gly) c.1492A>G (p.Arg498Gly) c.1450A>G (p.Arg484Gly) c.1348A>G (p.Arg450Gly) c.1312A>G (p.Arg438Gly) c.1153A>G (p.Arg385Gly) | |
| 1 | g.173903915T>G | CA421821245 | SERPINC1 | c.1369A>C (p.Arg457=) c.754A>C (p.Arg252=) c.1225A>C (p.Arg409=) c.1492A>C (p.Arg498=) c.1450A>C (p.Arg484=) c.1348A>C (p.Arg450=) c.1312A>C (p.Arg438=) c.1153A>C (p.Arg385=) | |
| 1 | g.173903916G>A | CA421821247 | SERPINC1 | c.1368C>T (p.Gly456=) c.753C>T (p.Gly251=) c.1224C>T (p.Gly408=) c.1491C>T (p.Gly497=) c.1449C>T (p.Gly483=) c.1347C>T (p.Gly449=) c.1311C>T (p.Gly437=) c.1152C>T (p.Gly384=) | |
| 1 | g.173903916G>C | CA421821248 | SERPINC1 | c.1368C>G (p.Gly456=) c.753C>G (p.Gly251=) c.1224C>G (p.Gly408=) c.1491C>G (p.Gly497=) c.1449C>G (p.Gly483=) c.1347C>G (p.Gly449=) c.1311C>G (p.Gly437=) c.1152C>G (p.Gly384=) | |
| 1 | g.173903916G>T | CA421821251 | SERPINC1 | c.1368C>A (p.Gly456=) c.753C>A (p.Gly251=) c.1224C>A (p.Gly408=) c.1491C>A (p.Gly497=) c.1449C>A (p.Gly483=) c.1347C>A (p.Gly449=) c.1311C>A (p.Gly437=) c.1152C>A (p.Gly384=) | |
| 1 | g.173903916_173903917delinsTGTAG | CA2586967698 | SERPINC1 | c.1367_1368delinsCTACA (p.Gly456delinsAlaThr) c.752_753delinsCTACA (p.Gly251delinsAlaThr) c.1223_1224delinsCTACA (p.Gly408delinsAlaThr) c.1490_1491delinsCTACA (p.Gly497delinsAlaThr) c.1448_1449delinsCTACA (p.Gly483delinsAlaThr) c.1346_1347delinsCTACA (p.Gly449delinsAlaThr) c.1310_1311delinsCTACA (p.Gly437delinsAlaThr) c.1151_1152delinsCTACA (p.Gly384delinsAlaThr) | |
| 1 | g.173903917C>A | CA343772100 | SERPINC1 | c.1367G>T (p.Gly456Val) c.752G>T (p.Gly251Val) c.1223G>T (p.Gly408Val) c.1490G>T (p.Gly497Val) c.1448G>T (p.Gly483Val) c.1346G>T (p.Gly449Val) c.1310G>T (p.Gly437Val) c.1151G>T (p.Gly384Val) | |
| 1 | g.173903917C= | CA1207934363 | SERPINC1 | c.1367G= (p.Gly456=) c.752G= (p.Gly251=) c.1223G= (p.Gly408=) c.1490G= (p.Gly497=) c.1448G= (p.Gly483=) c.1346G= (p.Gly449=) c.1310G= (p.Gly437=) c.1151G= (p.Gly384=) | |
| 1 | g.173903917C>G | CA343772096 | SERPINC1 | c.1367G>C (p.Gly456Ala) c.752G>C (p.Gly251Ala) c.1223G>C (p.Gly408Ala) c.1490G>C (p.Gly497Ala) c.1448G>C (p.Gly483Ala) c.1346G>C (p.Gly449Ala) c.1310G>C (p.Gly437Ala) c.1151G>C (p.Gly384Ala) | |
| 1 | g.173903917C>T | CA343772097 | SERPINC1 | c.1367G>A (p.Gly456Asp) c.752G>A (p.Gly251Asp) c.1223G>A (p.Gly408Asp) c.1490G>A (p.Gly497Asp) c.1448G>A (p.Gly483Asp) c.1346G>A (p.Gly449Asp) c.1310G>A (p.Gly437Asp) c.1151G>A (p.Gly384Asp) | dbSNP |
| 1 | g.173903919dup | CA2582342985 | SERPINC1 | c.1367dup (p.Arg457GlnfsTer8) c.752dup (p.Arg252GlnfsTer8) c.1223dup (p.Arg409GlnfsTer8) c.1490dup (p.Arg498GlnfsTer8) c.1448dup (p.Arg484GlnfsTer8) c.1346dup (p.Arg450GlnfsTer8) c.1310dup (p.Arg438GlnfsTer8) c.1151dup (p.Arg385GlnfsTer8) | |
| 1 | g.173903919del | CA2586967699 | SERPINC1 | c.1367del (p.Gly456AlafsTer3) c.752del (p.Gly251AlafsTer3) c.1223del (p.Gly408AlafsTer3) c.1490del (p.Gly497AlafsTer3) c.1448del (p.Gly483AlafsTer3) c.1346del (p.Gly449AlafsTer3) c.1310del (p.Gly437AlafsTer3) c.1151del (p.Gly384AlafsTer3) | |
| 1 | g.173903918C>A | CA343772102 | SERPINC1 | c.1366G>T (p.Gly456Cys) c.751G>T (p.Gly251Cys) c.1222G>T (p.Gly408Cys) c.1489G>T (p.Gly497Cys) c.1447G>T (p.Gly483Cys) c.1345G>T (p.Gly449Cys) c.1309G>T (p.Gly437Cys) c.1150G>T (p.Gly384Cys) | |
| 1 | g.173903918C>G | CA343772104 | SERPINC1 | c.1366G>C (p.Gly456Arg) c.751G>C (p.Gly251Arg) c.1222G>C (p.Gly408Arg) c.1489G>C (p.Gly497Arg) c.1447G>C (p.Gly483Arg) c.1345G>C (p.Gly449Arg) c.1309G>C (p.Gly437Arg) c.1150G>C (p.Gly384Arg) | ClinVar |
| 1 | g.173903918C>T | CA343772106 | SERPINC1 | c.1366G>A (p.Gly456Ser) c.751G>A (p.Gly251Ser) c.1222G>A (p.Gly408Ser) c.1489G>A (p.Gly497Ser) c.1447G>A (p.Gly483Ser) c.1345G>A (p.Gly449Ser) c.1309G>A (p.Gly437Ser) c.1150G>A (p.Gly384Ser) | |
| 1 | g.173903919C>A | CA343772109 | SERPINC1 | c.1365G>T (p.Met455Ile) c.750G>T (p.Met250Ile) c.1221G>T (p.Met407Ile) c.1488G>T (p.Met496Ile) c.1446G>T (p.Met482Ile) c.1344G>T (p.Met448Ile) c.1308G>T (p.Met436Ile) c.1149G>T (p.Met383Ile) | |
| 1 | g.173903919C= | CA1207934364 | SERPINC1 | c.1365G= (p.Met455=) c.750G= (p.Met250=) c.1221G= (p.Met407=) c.1488G= (p.Met496=) c.1446G= (p.Met482=) c.1344G= (p.Met448=) c.1308G= (p.Met436=) c.1149G= (p.Met383=) | |
| 1 | g.173903919C>G | CA343772111 | SERPINC1 | c.1365G>C (p.Met455Ile) c.750G>C (p.Met250Ile) c.1221G>C (p.Met407Ile) c.1488G>C (p.Met496Ile) c.1446G>C (p.Met482Ile) c.1344G>C (p.Met448Ile) c.1308G>C (p.Met436Ile) c.1149G>C (p.Met383Ile) | |
| 1 | g.173903919C>T | CA343772112 | SERPINC1 | c.1365G>A (p.Met455Ile) c.750G>A (p.Met250Ile) c.1221G>A (p.Met407Ile) c.1488G>A (p.Met496Ile) c.1446G>A (p.Met482Ile) c.1344G>A (p.Met448Ile) c.1308G>A (p.Met436Ile) c.1149G>A (p.Met383Ile) | dbSNP |
| 1 | g.173903920A>C | CA343772119 | SERPINC1 | c.1364T>G (p.Met455Arg) c.749T>G (p.Met250Arg) c.1220T>G (p.Met407Arg) c.1487T>G (p.Met496Arg) c.1445T>G (p.Met482Arg) c.1343T>G (p.Met448Arg) c.1307T>G (p.Met436Arg) c.1148T>G (p.Met383Arg) | |
| 1 | g.173903920A>G | CA343772115 | SERPINC1 | c.1364T>C (p.Met455Thr) c.749T>C (p.Met250Thr) c.1220T>C (p.Met407Thr) c.1487T>C (p.Met496Thr) c.1445T>C (p.Met482Thr) c.1343T>C (p.Met448Thr) c.1307T>C (p.Met436Thr) c.1148T>C (p.Met383Thr) | |
| 1 | g.173903920A>T | CA343772117 | SERPINC1 | c.1364T>A (p.Met455Lys) c.749T>A (p.Met250Lys) c.1220T>A (p.Met407Lys) c.1487T>A (p.Met496Lys) c.1445T>A (p.Met482Lys) c.1343T>A (p.Met448Lys) c.1307T>A (p.Met436Lys) c.1148T>A (p.Met383Lys) | |
| 1 | g.173903921T>A | CA343772122 | SERPINC1 | c.1363A>T (p.Met455Leu) c.748A>T (p.Met250Leu) c.1219A>T (p.Met407Leu) c.1486A>T (p.Met496Leu) c.1444A>T (p.Met482Leu) c.1342A>T (p.Met448Leu) c.1306A>T (p.Met436Leu) c.1147A>T (p.Met383Leu) | |
| 1 | g.173903921T>C | CA343772124 | SERPINC1 | c.1363A>G (p.Met455Val) c.748A>G (p.Met250Val) c.1219A>G (p.Met407Val) c.1486A>G (p.Met496Val) c.1444A>G (p.Met482Val) c.1342A>G (p.Met448Val) c.1306A>G (p.Met436Val) c.1147A>G (p.Met383Val) | |
| 1 | g.173903921T>G | CA343772126 | SERPINC1 | c.1363A>C (p.Met455Leu) c.748A>C (p.Met250Leu) c.1219A>C (p.Met407Leu) c.1486A>C (p.Met496Leu) c.1444A>C (p.Met482Leu) c.1342A>C (p.Met448Leu) c.1306A>C (p.Met436Leu) c.1147A>C (p.Met383Leu) | |
| 1 | g.173903922G>A | CA421821273 | SERPINC1 | c.1362C>T (p.Phe454=) c.747C>T (p.Phe249=) c.1218C>T (p.Phe406=) c.1485C>T (p.Phe495=) c.1443C>T (p.Phe481=) c.1341C>T (p.Phe447=) c.1305C>T (p.Phe435=) c.1146C>T (p.Phe382=) | |
| 1 | g.173903922G>C | CA343772128 | SERPINC1 | c.1362C>G (p.Phe454Leu) c.747C>G (p.Phe249Leu) c.1218C>G (p.Phe406Leu) c.1485C>G (p.Phe495Leu) c.1443C>G (p.Phe481Leu) c.1341C>G (p.Phe447Leu) c.1305C>G (p.Phe435Leu) c.1146C>G (p.Phe382Leu) | |
| 1 | g.173903922G>T | CA343772129 | SERPINC1 | c.1362C>A (p.Phe454Leu) c.747C>A (p.Phe249Leu) c.1218C>A (p.Phe406Leu) c.1485C>A (p.Phe495Leu) c.1443C>A (p.Phe481Leu) c.1341C>A (p.Phe447Leu) c.1305C>A (p.Phe435Leu) c.1146C>A (p.Phe382Leu) | |
| 1 | g.173903923A= | CA1207934365 | SERPINC1 | c.1361T= (p.Phe454=) c.746T= (p.Phe249=) c.1217T= (p.Phe406=) c.1484T= (p.Phe495=) c.1442T= (p.Phe481=) c.1340T= (p.Phe447=) c.1304T= (p.Phe435=) c.1145T= (p.Phe382=) | |
| 1 | g.173903923A>C | CA343772133 | SERPINC1 | c.1361T>G (p.Phe454Cys) c.746T>G (p.Phe249Cys) c.1217T>G (p.Phe406Cys) c.1484T>G (p.Phe495Cys) c.1442T>G (p.Phe481Cys) c.1340T>G (p.Phe447Cys) c.1304T>G (p.Phe435Cys) c.1145T>G (p.Phe382Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173903923A>G | CA343772136 | SERPINC1 | c.1361T>C (p.Phe454Ser) c.746T>C (p.Phe249Ser) c.1217T>C (p.Phe406Ser) c.1484T>C (p.Phe495Ser) c.1442T>C (p.Phe481Ser) c.1340T>C (p.Phe447Ser) c.1304T>C (p.Phe435Ser) c.1145T>C (p.Phe382Ser) | |
| 1 | g.173903923A>T | CA343772134 | SERPINC1 | c.1361T>A (p.Phe454Tyr) c.746T>A (p.Phe249Tyr) c.1217T>A (p.Phe406Tyr) c.1484T>A (p.Phe495Tyr) c.1442T>A (p.Phe481Tyr) c.1340T>A (p.Phe447Tyr) c.1304T>A (p.Phe435Tyr) c.1145T>A (p.Phe382Tyr) | |
| 1 | g.173903924del | CA2579753960 | SERPINC1 | c.1361del (p.Phe454SerfsTer5) c.746del (p.Phe249SerfsTer5) c.1217del (p.Phe406SerfsTer5) c.1484del (p.Phe495SerfsTer5) c.1442del (p.Phe481SerfsTer5) c.1340del (p.Phe447SerfsTer5) c.1304del (p.Phe435SerfsTer5) c.1145del (p.Phe382SerfsTer5) | |
| 1 | g.173903924A>C | CA343772139 | SERPINC1 | c.1360T>G (p.Phe454Val) c.745T>G (p.Phe249Val) c.1216T>G (p.Phe406Val) c.1483T>G (p.Phe495Val) c.1441T>G (p.Phe481Val) c.1339T>G (p.Phe447Val) c.1303T>G (p.Phe435Val) c.1144T>G (p.Phe382Val) | |
| 1 | g.173903924A>G | CA343772142 | SERPINC1 | c.1360T>C (p.Phe454Leu) c.745T>C (p.Phe249Leu) c.1216T>C (p.Phe406Leu) c.1483T>C (p.Phe495Leu) c.1441T>C (p.Phe481Leu) c.1339T>C (p.Phe447Leu) c.1303T>C (p.Phe435Leu) c.1144T>C (p.Phe382Leu) | |
| 1 | g.173903924A>T | CA343772140 | SERPINC1 | c.1360T>A (p.Phe454Ile) c.745T>A (p.Phe249Ile) c.1216T>A (p.Phe406Ile) c.1483T>A (p.Phe495Ile) c.1441T>A (p.Phe481Ile) c.1339T>A (p.Phe447Ile) c.1303T>A (p.Phe435Ile) c.1144T>A (p.Phe382Ile) | |
| 1 | g.173903925G>A | CA421821278 | SERPINC1 | c.1359C>T (p.Ile453=) c.744C>T (p.Ile248=) c.1215C>T (p.Ile405=) c.1482C>T (p.Ile494=) c.1440C>T (p.Ile480=) c.1338C>T (p.Ile446=) c.1302C>T (p.Ile434=) c.1143C>T (p.Ile381=) | |
| 1 | g.173903925G>C | CA343772144 | SERPINC1 | c.1359C>G (p.Ile453Met) c.744C>G (p.Ile248Met) c.1215C>G (p.Ile405Met) c.1482C>G (p.Ile494Met) c.1440C>G (p.Ile480Met) c.1338C>G (p.Ile446Met) c.1302C>G (p.Ile434Met) c.1143C>G (p.Ile381Met) | dbSNP |
| 1 | g.173903925G= | CA1207934366 | SERPINC1 | c.1359C= (p.Ile453=) c.744C= (p.Ile248=) c.1215C= (p.Ile405=) c.1482C= (p.Ile494=) c.1440C= (p.Ile480=) c.1338C= (p.Ile446=) c.1302C= (p.Ile434=) c.1143C= (p.Ile381=) | |
| 1 | g.173903925G>T | CA421821279 | SERPINC1 | c.1359C>A (p.Ile453=) c.744C>A (p.Ile248=) c.1215C>A (p.Ile405=) c.1482C>A (p.Ile494=) c.1440C>A (p.Ile480=) c.1338C>A (p.Ile446=) c.1302C>A (p.Ile434=) c.1143C>A (p.Ile381=) | |
| 1 | g.173903926A>C | CA343772146 | SERPINC1 | c.1358T>G (p.Ile453Ser) c.743T>G (p.Ile248Ser) c.1214T>G (p.Ile405Ser) c.1481T>G (p.Ile494Ser) c.1439T>G (p.Ile480Ser) c.1337T>G (p.Ile446Ser) c.1301T>G (p.Ile434Ser) c.1142T>G (p.Ile381Ser) | |
| 1 | g.173903926A>G | CA343772148 | SERPINC1 | c.1358T>C (p.Ile453Thr) c.743T>C (p.Ile248Thr) c.1214T>C (p.Ile405Thr) c.1481T>C (p.Ile494Thr) c.1439T>C (p.Ile480Thr) c.1337T>C (p.Ile446Thr) c.1301T>C (p.Ile434Thr) c.1142T>C (p.Ile381Thr) | ClinVar |
| 1 | g.173903926A>T | CA343772150 | SERPINC1 | c.1358T>A (p.Ile453Asn) c.743T>A (p.Ile248Asn) c.1214T>A (p.Ile405Asn) c.1481T>A (p.Ile494Asn) c.1439T>A (p.Ile480Asn) c.1337T>A (p.Ile446Asn) c.1301T>A (p.Ile434Asn) c.1142T>A (p.Ile381Asn) | |
| 1 | g.173903926delinsTTAT | CA2695199917 | SERPINC1 | c.1358delinsATAA (p.Ile453delinsAsnAsn) c.743delinsATAA (p.Ile248delinsAsnAsn) c.1214delinsATAA (p.Ile405delinsAsnAsn) c.1481delinsATAA (p.Ile494delinsAsnAsn) c.1439delinsATAA (p.Ile480delinsAsnAsn) c.1337delinsATAA (p.Ile446delinsAsnAsn) c.1301delinsATAA (p.Ile434delinsAsnAsn) c.1142delinsATAA (p.Ile381delinsAsnAsn) | ClinVar |
| 1 | g.173903927T>A | CA343772152 | SERPINC1 | c.1357A>T (p.Ile453Phe) c.742A>T (p.Ile248Phe) c.1213A>T (p.Ile405Phe) c.1480A>T (p.Ile494Phe) c.1438A>T (p.Ile480Phe) c.1336A>T (p.Ile446Phe) c.1300A>T (p.Ile434Phe) c.1141A>T (p.Ile381Phe) | |
| 1 | g.173903927T>C | CA343772153 | SERPINC1 | c.1357A>G (p.Ile453Val) c.742A>G (p.Ile248Val) c.1213A>G (p.Ile405Val) c.1480A>G (p.Ile494Val) c.1438A>G (p.Ile480Val) c.1336A>G (p.Ile446Val) c.1300A>G (p.Ile434Val) c.1141A>G (p.Ile381Val) | |
| 1 | g.173903927T>G | CA343772154 | SERPINC1 | c.1357A>C (p.Ile453Leu) c.742A>C (p.Ile248Leu) c.1213A>C (p.Ile405Leu) c.1480A>C (p.Ile494Leu) c.1438A>C (p.Ile480Leu) c.1336A>C (p.Ile446Leu) c.1300A>C (p.Ile434Leu) c.1141A>C (p.Ile381Leu) | |
| 1 | g.173903927T= | CA1207934367 | SERPINC1 | c.1357A= (p.Ile453=) c.742A= (p.Ile248=) c.1213A= (p.Ile405=) c.1480A= (p.Ile494=) c.1438A= (p.Ile480=) c.1336A= (p.Ile446=) c.1300A= (p.Ile434=) c.1141A= (p.Ile381=) | |
| 1 | g.173903927dup | CA2586967700 | SERPINC1 | c.1357dup (p.Ile453AsnfsTer12) c.742dup (p.Ile248AsnfsTer12) c.1213dup (p.Ile405AsnfsTer12) c.1480dup (p.Ile494AsnfsTer12) c.1438dup (p.Ile480AsnfsTer12) c.1336dup (p.Ile446AsnfsTer12) c.1300dup (p.Ile434AsnfsTer12) c.1141dup (p.Ile381AsnfsTer12) | |
| 1 | g.173903927_173903928insTAA | CA527601310 | SERPINC1 | c.1356_1357insTTA (p.Ile452_Ile453insLeu) c.741_742insTTA (p.Ile247_Ile248insLeu) c.1212_1213insTTA (p.Ile404_Ile405insLeu) c.1479_1480insTTA (p.Ile493_Ile494insLeu) c.1437_1438insTTA (p.Ile479_Ile480insLeu) c.1335_1336insTTA (p.Ile445_Ile446insLeu) c.1299_1300insTTA (p.Ile433_Ile434insLeu) c.1140_1141insTTA (p.Ile380_Ile381insLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903928A>C | CA343772156 | SERPINC1 | c.1356T>G (p.Ile452Met) c.741T>G (p.Ile247Met) c.1212T>G (p.Ile404Met) c.1479T>G (p.Ile493Met) c.1437T>G (p.Ile479Met) c.1335T>G (p.Ile445Met) c.1299T>G (p.Ile433Met) c.1140T>G (p.Ile380Met) | |
| 1 | g.173903928A>G | CA421821281 | SERPINC1 | c.1356T>C (p.Ile452=) c.741T>C (p.Ile247=) c.1212T>C (p.Ile404=) c.1479T>C (p.Ile493=) c.1437T>C (p.Ile479=) c.1335T>C (p.Ile445=) c.1299T>C (p.Ile433=) c.1140T>C (p.Ile380=) | |
| 1 | g.173903928A>T | CA421821280 | SERPINC1 | c.1356T>A (p.Ile452=) c.741T>A (p.Ile247=) c.1212T>A (p.Ile404=) c.1479T>A (p.Ile493=) c.1437T>A (p.Ile479=) c.1335T>A (p.Ile445=) c.1299T>A (p.Ile433=) c.1140T>A (p.Ile380=) | |
| 1 | g.173903929A= | CA1207934368 | SERPINC1 | c.1355T= (p.Ile452=) c.740T= (p.Ile247=) c.1211T= (p.Ile404=) c.1478T= (p.Ile493=) c.1436T= (p.Ile479=) c.1334T= (p.Ile445=) c.1298T= (p.Ile433=) c.1139T= (p.Ile380=) | |
| 1 | g.173903929A>C | CA343772159 | SERPINC1 | c.1355T>G (p.Ile452Ser) c.740T>G (p.Ile247Ser) c.1211T>G (p.Ile404Ser) c.1478T>G (p.Ile493Ser) c.1436T>G (p.Ile479Ser) c.1334T>G (p.Ile445Ser) c.1298T>G (p.Ile433Ser) c.1139T>G (p.Ile380Ser) | |
| 1 | g.173903929A>G | CA1251214 | SERPINC1 | c.1355T>C (p.Ile452Thr) c.740T>C (p.Ile247Thr) c.1211T>C (p.Ile404Thr) c.1478T>C (p.Ile493Thr) c.1436T>C (p.Ile479Thr) c.1334T>C (p.Ile445Thr) c.1298T>C (p.Ile433Thr) c.1139T>C (p.Ile380Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.173903929A>T | CA343772162 | SERPINC1 | c.1355T>A (p.Ile452Asn) c.740T>A (p.Ile247Asn) c.1211T>A (p.Ile404Asn) c.1478T>A (p.Ile493Asn) c.1436T>A (p.Ile479Asn) c.1334T>A (p.Ile445Asn) c.1298T>A (p.Ile433Asn) c.1139T>A (p.Ile380Asn) | |
| 1 | g.173903930T>A | CA343772169 | SERPINC1 | c.1354A>T (p.Ile452Phe) c.739A>T (p.Ile247Phe) c.1210A>T (p.Ile404Phe) c.1477A>T (p.Ile493Phe) c.1435A>T (p.Ile479Phe) c.1333A>T (p.Ile445Phe) c.1297A>T (p.Ile433Phe) c.1138A>T (p.Ile380Phe) | |
| 1 | g.173903930T>C | CA343772167 | SERPINC1 | c.1354A>G (p.Ile452Val) c.739A>G (p.Ile247Val) c.1210A>G (p.Ile404Val) c.1477A>G (p.Ile493Val) c.1435A>G (p.Ile479Val) c.1333A>G (p.Ile445Val) c.1297A>G (p.Ile433Val) c.1138A>G (p.Ile380Val) | gnomAD v4 COSMIC |
| 1 | g.173903930T>G | CA343772166 | SERPINC1 | c.1354A>C (p.Ile452Leu) c.739A>C (p.Ile247Leu) c.1210A>C (p.Ile404Leu) c.1477A>C (p.Ile493Leu) c.1435A>C (p.Ile479Leu) c.1333A>C (p.Ile445Leu) c.1297A>C (p.Ile433Leu) c.1138A>C (p.Ile380Leu) | |
| 1 | g.173903931A>C | CA421821282 | SERPINC1 | c.1353T>G (p.Thr451=) c.738T>G (p.Thr246=) c.1209T>G (p.Thr403=) c.1476T>G (p.Thr492=) c.1434T>G (p.Thr478=) c.1332T>G (p.Thr444=) c.1296T>G (p.Thr432=) c.1137T>G (p.Thr379=) | |
| 1 | g.173903931A>G | CA421821283 | SERPINC1 | c.1353T>C (p.Thr451=) c.738T>C (p.Thr246=) c.1209T>C (p.Thr403=) c.1476T>C (p.Thr492=) c.1434T>C (p.Thr478=) c.1332T>C (p.Thr444=) c.1296T>C (p.Thr432=) c.1137T>C (p.Thr379=) | |
| 1 | g.173903931A>T | CA421821284 | SERPINC1 | c.1353T>A (p.Thr451=) c.738T>A (p.Thr246=) c.1209T>A (p.Thr403=) c.1476T>A (p.Thr492=) c.1434T>A (p.Thr478=) c.1332T>A (p.Thr444=) c.1296T>A (p.Thr432=) c.1137T>A (p.Thr379=) | |
| 1 | g.173903932G>A | CA343772172 | SERPINC1 | c.1352C>T (p.Thr451Ile) c.737C>T (p.Thr246Ile) c.1208C>T (p.Thr403Ile) c.1475C>T (p.Thr492Ile) c.1433C>T (p.Thr478Ile) c.1331C>T (p.Thr444Ile) c.1295C>T (p.Thr432Ile) c.1136C>T (p.Thr379Ile) | |
| 1 | g.173903932G>C | CA343772173 | SERPINC1 | c.1352C>G (p.Thr451Ser) c.737C>G (p.Thr246Ser) c.1208C>G (p.Thr403Ser) c.1475C>G (p.Thr492Ser) c.1433C>G (p.Thr478Ser) c.1331C>G (p.Thr444Ser) c.1295C>G (p.Thr432Ser) c.1136C>G (p.Thr379Ser) | |
| 1 | g.173903932G>T | CA343772174 | SERPINC1 | c.1352C>A (p.Thr451Asn) c.737C>A (p.Thr246Asn) c.1208C>A (p.Thr403Asn) c.1475C>A (p.Thr492Asn) c.1433C>A (p.Thr478Asn) c.1331C>A (p.Thr444Asn) c.1295C>A (p.Thr432Asn) c.1136C>A (p.Thr379Asn) | |
| 1 | g.173903933T>A | CA343772177 | SERPINC1 | c.1351A>T (p.Thr451Ser) c.736A>T (p.Thr246Ser) c.1207A>T (p.Thr403Ser) c.1474A>T (p.Thr492Ser) c.1432A>T (p.Thr478Ser) c.1330A>T (p.Thr444Ser) c.1294A>T (p.Thr432Ser) c.1135A>T (p.Thr379Ser) | |
| 1 | g.173903933T>C | CA343772179 | SERPINC1 | c.1351A>G (p.Thr451Ala) c.736A>G (p.Thr246Ala) c.1207A>G (p.Thr403Ala) c.1474A>G (p.Thr492Ala) c.1432A>G (p.Thr478Ala) c.1330A>G (p.Thr444Ala) c.1294A>G (p.Thr432Ala) c.1135A>G (p.Thr379Ala) | gnomAD v4 |
| 1 | g.173903933T>G | CA343772180 | SERPINC1 | c.1351A>C (p.Thr451Pro) c.736A>C (p.Thr246Pro) c.1207A>C (p.Thr403Pro) c.1474A>C (p.Thr492Pro) c.1432A>C (p.Thr478Pro) c.1330A>C (p.Thr444Pro) c.1294A>C (p.Thr432Pro) c.1135A>C (p.Thr379Pro) | |
| 1 | g.173903934G>A | CA1251215 | SERPINC1 | c.1350C>T (p.Asn450=) c.735C>T (p.Asn245=) c.1206C>T (p.Asn402=) c.1473C>T (p.Asn491=) c.1431C>T (p.Asn477=) c.1329C>T (p.Asn443=) c.1293C>T (p.Asn431=) c.1134C>T (p.Asn378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903934G>C | CA343772184 | SERPINC1 | c.1350C>G (p.Asn450Lys) c.735C>G (p.Asn245Lys) c.1206C>G (p.Asn402Lys) c.1473C>G (p.Asn491Lys) c.1431C>G (p.Asn477Lys) c.1329C>G (p.Asn443Lys) c.1293C>G (p.Asn431Lys) c.1134C>G (p.Asn378Lys) | |
| 1 | g.173903934G= | CA1139773039 | SERPINC1 | c.1350C= (p.Asn450=) c.735C= (p.Asn245=) c.1206C= (p.Asn402=) c.1473C= (p.Asn491=) c.1431C= (p.Asn477=) c.1329C= (p.Asn443=) c.1293C= (p.Asn431=) c.1134C= (p.Asn378=) | |
| 1 | g.173903934G>T | CA343772186 | SERPINC1 | c.1350C>A (p.Asn450Lys) c.735C>A (p.Asn245Lys) c.1206C>A (p.Asn402Lys) c.1473C>A (p.Asn491Lys) c.1431C>A (p.Asn477Lys) c.1329C>A (p.Asn443Lys) c.1293C>A (p.Asn431Lys) c.1134C>A (p.Asn378Lys) | |
| 1 | g.173903935T>A | CA343772188 | SERPINC1 | c.1349A>T (p.Asn450Ile) c.734A>T (p.Asn245Ile) c.1205A>T (p.Asn402Ile) c.1472A>T (p.Asn491Ile) c.1430A>T (p.Asn477Ile) c.1328A>T (p.Asn443Ile) c.1292A>T (p.Asn431Ile) c.1133A>T (p.Asn378Ile) | |
| 1 | g.173903935T>C | CA343772189 | SERPINC1 | c.1349A>G (p.Asn450Ser) c.734A>G (p.Asn245Ser) c.1205A>G (p.Asn402Ser) c.1472A>G (p.Asn491Ser) c.1430A>G (p.Asn477Ser) c.1328A>G (p.Asn443Ser) c.1292A>G (p.Asn431Ser) c.1133A>G (p.Asn378Ser) | |
| 1 | g.173903935T>G | CA343772190 | SERPINC1 | c.1349A>C (p.Asn450Thr) c.734A>C (p.Asn245Thr) c.1205A>C (p.Asn402Thr) c.1472A>C (p.Asn491Thr) c.1430A>C (p.Asn477Thr) c.1328A>C (p.Asn443Thr) c.1292A>C (p.Asn431Thr) c.1133A>C (p.Asn378Thr) | |
| 1 | g.173903936T>A | CA343772193 | SERPINC1 | c.1348A>T (p.Asn450Tyr) c.733A>T (p.Asn245Tyr) c.1204A>T (p.Asn402Tyr) c.1471A>T (p.Asn491Tyr) c.1429A>T (p.Asn477Tyr) c.1327A>T (p.Asn443Tyr) c.1291A>T (p.Asn431Tyr) c.1132A>T (p.Asn378Tyr) | |
| 1 | g.173903936T>C | CA1251216 | SERPINC1 | c.1348A>G (p.Asn450Asp) c.733A>G (p.Asn245Asp) c.1204A>G (p.Asn402Asp) c.1471A>G (p.Asn491Asp) c.1429A>G (p.Asn477Asp) c.1327A>G (p.Asn443Asp) c.1291A>G (p.Asn431Asp) c.1132A>G (p.Asn378Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903936T>G | CA343772195 | SERPINC1 | c.1348A>C (p.Asn450His) c.733A>C (p.Asn245His) c.1204A>C (p.Asn402His) c.1471A>C (p.Asn491His) c.1429A>C (p.Asn477His) c.1327A>C (p.Asn443His) c.1291A>C (p.Asn431His) c.1132A>C (p.Asn378His) | |
| 1 | g.173903936T= | CA1148460275 | SERPINC1 | c.1348A= (p.Asn450=) c.733A= (p.Asn245=) c.1204A= (p.Asn402=) c.1471A= (p.Asn491=) c.1429A= (p.Asn477=) c.1327A= (p.Asn443=) c.1291A= (p.Asn431=) c.1132A= (p.Asn378=) | |
| 1 | g.173903937del | CA2586967701 | SERPINC1 | c.1347del (p.Asn450ThrfsTer9) c.732del (p.Asn245ThrfsTer9) c.1203del (p.Asn402ThrfsTer9) c.1470del (p.Asn491ThrfsTer9) c.1428del (p.Asn477ThrfsTer9) c.1326del (p.Asn443ThrfsTer9) c.1290del (p.Asn431ThrfsTer9) c.1131del (p.Asn378ThrfsTer9) | |
| 1 | g.173903937C>A | CA421821305 | SERPINC1 | c.1347G>T (p.Leu449=) c.732G>T (p.Leu244=) c.1203G>T (p.Leu401=) c.1470G>T (p.Leu490=) c.1428G>T (p.Leu476=) c.1326G>T (p.Leu442=) c.1290G>T (p.Leu430=) c.1131G>T (p.Leu377=) | |
| 1 | g.173903937C>G | CA421821307 | SERPINC1 | c.1347G>C (p.Leu449=) c.732G>C (p.Leu244=) c.1203G>C (p.Leu401=) c.1470G>C (p.Leu490=) c.1428G>C (p.Leu476=) c.1326G>C (p.Leu442=) c.1290G>C (p.Leu430=) c.1131G>C (p.Leu377=) | |
| 1 | g.173903937C>T | CA421821309 | SERPINC1 | c.1347G>A (p.Leu449=) c.732G>A (p.Leu244=) c.1203G>A (p.Leu401=) c.1470G>A (p.Leu490=) c.1428G>A (p.Leu476=) c.1326G>A (p.Leu442=) c.1290G>A (p.Leu430=) c.1131G>A (p.Leu377=) | |
| 1 | g.173903938A= | CA1207934369 | SERPINC1 | c.1346T= (p.Leu449=) c.731T= (p.Leu244=) c.1202T= (p.Leu401=) c.1469T= (p.Leu490=) c.1427T= (p.Leu476=) c.1325T= (p.Leu442=) c.1289T= (p.Leu430=) c.1130T= (p.Leu377=) | |
| 1 | g.173903938A>C | CA343772197 | SERPINC1 | c.1346T>G (p.Leu449Arg) c.731T>G (p.Leu244Arg) c.1202T>G (p.Leu401Arg) c.1469T>G (p.Leu490Arg) c.1427T>G (p.Leu476Arg) c.1325T>G (p.Leu442Arg) c.1289T>G (p.Leu430Arg) c.1130T>G (p.Leu377Arg) | |
| 1 | g.173903938A>G | CA343772201 | SERPINC1 | c.1346T>C (p.Leu449Pro) c.731T>C (p.Leu244Pro) c.1202T>C (p.Leu401Pro) c.1469T>C (p.Leu490Pro) c.1427T>C (p.Leu476Pro) c.1325T>C (p.Leu442Pro) c.1289T>C (p.Leu430Pro) c.1130T>C (p.Leu377Pro) | |
| 1 | g.173903938A>T | CA343772199 | SERPINC1 | c.1346T>A (p.Leu449Gln) c.731T>A (p.Leu244Gln) c.1202T>A (p.Leu401Gln) c.1469T>A (p.Leu490Gln) c.1427T>A (p.Leu476Gln) c.1325T>A (p.Leu442Gln) c.1289T>A (p.Leu430Gln) c.1130T>A (p.Leu377Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903939G>A | CA421821317 | SERPINC1 | c.1345C>T (p.Leu449=) c.730C>T (p.Leu244=) c.1201C>T (p.Leu401=) c.1468C>T (p.Leu490=) c.1426C>T (p.Leu476=) c.1324C>T (p.Leu442=) c.1288C>T (p.Leu430=) c.1129C>T (p.Leu377=) | |
| 1 | g.173903939G>C | CA343772202 | SERPINC1 | c.1345C>G (p.Leu449Val) c.730C>G (p.Leu244Val) c.1201C>G (p.Leu401Val) c.1468C>G (p.Leu490Val) c.1426C>G (p.Leu476Val) c.1324C>G (p.Leu442Val) c.1288C>G (p.Leu430Val) c.1129C>G (p.Leu377Val) | |
| 1 | g.173903939G>T | CA343772204 | SERPINC1 | c.1345C>A (p.Leu449Met) c.730C>A (p.Leu244Met) c.1201C>A (p.Leu401Met) c.1468C>A (p.Leu490Met) c.1426C>A (p.Leu476Met) c.1324C>A (p.Leu442Met) c.1288C>A (p.Leu430Met) c.1129C>A (p.Leu377Met) | |
| 1 | g.173903939_173903969dup | CA2579754002 | SERPINC1 | c.1315_1345dup (p.Leu449ProfsTer26) c.700_730dup (p.Leu244ProfsTer26) c.1171_1201dup (p.Leu401ProfsTer26) c.1438_1468dup (p.Leu490ProfsTer26) c.1396_1426dup (p.Leu476ProfsTer26) c.1294_1324dup (p.Leu442ProfsTer26) c.1258_1288dup (p.Leu430ProfsTer26) c.1099_1129dup (p.Leu377ProfsTer26) | |
| 1 | g.173903940A>C | CA421821322 | SERPINC1 | c.1344T>G (p.Pro448=) c.729T>G (p.Pro243=) c.1200T>G (p.Pro400=) c.1467T>G (p.Pro489=) c.1425T>G (p.Pro475=) c.1323T>G (p.Pro441=) c.1287T>G (p.Pro429=) c.1128T>G (p.Pro376=) | |
| 1 | g.173903940A>G | CA421821326 | SERPINC1 | c.1344T>C (p.Pro448=) c.729T>C (p.Pro243=) c.1200T>C (p.Pro400=) c.1467T>C (p.Pro489=) c.1425T>C (p.Pro475=) c.1323T>C (p.Pro441=) c.1287T>C (p.Pro429=) c.1128T>C (p.Pro376=) | |
| 1 | g.173903940A>T | CA421821324 | SERPINC1 | c.1344T>A (p.Pro448=) c.729T>A (p.Pro243=) c.1200T>A (p.Pro400=) c.1467T>A (p.Pro489=) c.1425T>A (p.Pro475=) c.1323T>A (p.Pro441=) c.1287T>A (p.Pro429=) c.1128T>A (p.Pro376=) | |
| 1 | g.173903941G>A | CA343772206 | SERPINC1 | c.1343C>T (p.Pro448Leu) c.728C>T (p.Pro243Leu) c.1199C>T (p.Pro400Leu) c.1466C>T (p.Pro489Leu) c.1424C>T (p.Pro475Leu) c.1322C>T (p.Pro441Leu) c.1286C>T (p.Pro429Leu) c.1127C>T (p.Pro376Leu) | |
| 1 | g.173903941G>C | CA343772208 | SERPINC1 | c.1343C>G (p.Pro448Arg) c.728C>G (p.Pro243Arg) c.1199C>G (p.Pro400Arg) c.1466C>G (p.Pro489Arg) c.1424C>G (p.Pro475Arg) c.1322C>G (p.Pro441Arg) c.1286C>G (p.Pro429Arg) c.1127C>G (p.Pro376Arg) | |
| 1 | g.173903941G>T | CA343772210 | SERPINC1 | c.1343C>A (p.Pro448His) c.728C>A (p.Pro243His) c.1199C>A (p.Pro400His) c.1466C>A (p.Pro489His) c.1424C>A (p.Pro475His) c.1322C>A (p.Pro441His) c.1286C>A (p.Pro429His) c.1127C>A (p.Pro376His) |