Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.93884774G>ACA2503190PROS1c.1446C>T (p.Gly482=)
c.1401C>T (p.Gly467=)
n.1614C>T
c.1404C>T (p.Gly468=)
c.1545C>T (n.1545C>T)
c.201C>T (p.Gly67=)
c.1542C>T (p.Gly514=)
c.1053C>T (p.Gly351=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884774G>CCA434458914PROS1c.1446C>G (p.Gly482=)
c.1401C>G (p.Gly467=)
n.1614C>G
c.1404C>G (p.Gly468=)
c.1545C>G (n.1545C>G)
c.201C>G (p.Gly67=)
c.1542C>G (p.Gly514=)
c.1053C>G (p.Gly351=)
3g.93884774G=CA1385033056PROS1c.1446C= (p.Gly482=)
c.1401C= (p.Gly467=)
n.1614C=
c.1404C= (p.Gly468=)
c.1545C= (n.1545C=)
c.201C= (p.Gly67=)
c.1542C= (p.Gly514=)
c.1053C= (p.Gly351=)
3g.93884774G>TCA434458915PROS1c.1446C>A (p.Gly482=)
c.1401C>A (p.Gly467=)
n.1614C>A
c.1404C>A (p.Gly468=)
c.1545C>A (n.1545C>A)
c.201C>A (p.Gly67=)
c.1542C>A (p.Gly514=)
c.1053C>A (p.Gly351=)
3g.93884775C>ACA353667785PROS1c.1445G>T (p.Gly482Val)
c.1400G>T (p.Gly467Val)
n.1613G>T
c.1403G>T (p.Gly468Val)
c.1544G>T (n.1544G>T)
c.200G>T (p.Gly67Val)
c.1541G>T (p.Gly514Val)
c.1052G>T (p.Gly351Val)
ClinVar
3g.93884775C=CA1385033057PROS1c.1445G= (p.Gly482=)
c.1400G= (p.Gly467=)
n.1613G=
c.1403G= (p.Gly468=)
c.1544G= (n.1544G=)
c.200G= (p.Gly67=)
c.1541G= (p.Gly514=)
c.1052G= (p.Gly351=)
3g.93884775C>GCA353667784PROS1c.1445G>C (p.Gly482Ala)
c.1400G>C (p.Gly467Ala)
n.1613G>C
c.1403G>C (p.Gly468Ala)
c.1544G>C (n.1544G>C)
c.200G>C (p.Gly67Ala)
c.1541G>C (p.Gly514Ala)
c.1052G>C (p.Gly351Ala)
3g.93884775C>TCA353667782PROS1c.1445G>A (p.Gly482Asp)
c.1400G>A (p.Gly467Asp)
n.1613G>A
c.1403G>A (p.Gly468Asp)
c.1544G>A (n.1544G>A)
c.200G>A (p.Gly67Asp)
c.1541G>A (p.Gly514Asp)
c.1052G>A (p.Gly351Asp)
ClinVar dbSNP
3g.93884776C>ACA353667786PROS1c.1444G>T (p.Gly482Cys)
c.1399G>T (p.Gly467Cys)
n.1612G>T
c.1402G>T (p.Gly468Cys)
c.1543G>T (n.1543G>T)
c.199G>T (p.Gly67Cys)
c.1540G>T (p.Gly514Cys)
c.1051G>T (p.Gly351Cys)
gnomAD v4
3g.93884776C=CA1385033058PROS1c.1444G= (p.Gly482=)
c.1399G= (p.Gly467=)
n.1612G=
c.1402G= (p.Gly468=)
c.1543G= (n.1543G=)
c.199G= (p.Gly67=)
c.1540G= (p.Gly514=)
c.1051G= (p.Gly351=)
3g.93884776C>GCA353667787PROS1c.1444G>C (p.Gly482Arg)
c.1399G>C (p.Gly467Arg)
n.1612G>C
c.1402G>C (p.Gly468Arg)
c.1543G>C (n.1543G>C)
c.199G>C (p.Gly67Arg)
c.1540G>C (p.Gly514Arg)
c.1051G>C (p.Gly351Arg)
3g.93884776C>TCA2503191PROS1c.1444G>A (p.Gly482Ser)
c.1399G>A (p.Gly467Ser)
n.1612G>A
c.1402G>A (p.Gly468Ser)
c.1543G>A (n.1543G>A)
c.199G>A (p.Gly67Ser)
c.1540G>A (p.Gly514Ser)
c.1051G>A (p.Gly351Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.93884777C>ACA353667789PROS1c.1443G>T (p.Lys481Asn)
c.1398G>T (p.Lys466Asn)
n.1611G>T
c.1401G>T (p.Lys467Asn)
c.1542G>T (n.1542G>T)
c.198G>T (p.Lys66Asn)
c.1539G>T (p.Lys513Asn)
c.1050G>T (p.Lys350Asn)
3g.93884777C>GCA353667792PROS1c.1443G>C (p.Lys481Asn)
c.1398G>C (p.Lys466Asn)
n.1611G>C
c.1401G>C (p.Lys467Asn)
c.1542G>C (n.1542G>C)
c.198G>C (p.Lys66Asn)
c.1539G>C (p.Lys513Asn)
c.1050G>C (p.Lys350Asn)
3g.93884777C>TCA434458916PROS1c.1443G>A (p.Lys481=)
c.1398G>A (p.Lys466=)
n.1611G>A
c.1401G>A (p.Lys467=)
c.1542G>A (n.1542G>A)
c.198G>A (p.Lys66=)
c.1539G>A (p.Lys513=)
c.1050G>A (p.Lys350=)
gnomAD v4
3g.93884778T>ACA353667795PROS1c.1442A>T (p.Lys481Met)
c.1397A>T (p.Lys466Met)
n.1610A>T
c.1400A>T (p.Lys467Met)
c.1541A>T (n.1541A>T)
c.197A>T (p.Lys66Met)
c.1538A>T (p.Lys513Met)
c.1049A>T (p.Lys350Met)
3g.93884778T>CCA353667798PROS1c.1442A>G (p.Lys481Arg)
c.1397A>G (p.Lys466Arg)
n.1610A>G
c.1400A>G (p.Lys467Arg)
c.1541A>G (n.1541A>G)
c.197A>G (p.Lys66Arg)
c.1538A>G (p.Lys513Arg)
c.1049A>G (p.Lys350Arg)
gnomAD v4
3g.93884778T>GCA353667800PROS1c.1442A>C (p.Lys481Thr)
c.1397A>C (p.Lys466Thr)
n.1610A>C
c.1400A>C (p.Lys467Thr)
c.1541A>C (n.1541A>C)
c.197A>C (p.Lys66Thr)
c.1538A>C (p.Lys513Thr)
c.1049A>C (p.Lys350Thr)
3g.93884779T>ACA353667803PROS1c.1441A>T (p.Lys481Ter)
c.1396A>T (p.Lys466Ter)
n.1609A>T
c.1399A>T (p.Lys467Ter)
c.1540A>T (n.1540A>T)
c.196A>T (p.Lys66Ter)
c.1537A>T (p.Lys513Ter)
c.1048A>T (p.Lys350Ter)
3g.93884779T>CCA353667804PROS1c.1441A>G (p.Lys481Glu)
c.1396A>G (p.Lys466Glu)
n.1609A>G
c.1399A>G (p.Lys467Glu)
c.1540A>G (n.1540A>G)
c.196A>G (p.Lys66Glu)
c.1537A>G (p.Lys513Glu)
c.1048A>G (p.Lys350Glu)
3g.93884779T>GCA353667806PROS1c.1441A>C (p.Lys481Gln)
c.1396A>C (p.Lys466Gln)
n.1609A>C
c.1399A>C (p.Lys467Gln)
c.1540A>C (n.1540A>C)
c.196A>C (p.Lys66Gln)
c.1537A>C (p.Lys513Gln)
c.1048A>C (p.Lys350Gln)
3g.93884780C>ACA353667808PROS1c.1440G>T (p.Glu480Asp)
c.1395G>T (p.Glu465Asp)
n.1608G>T
c.1398G>T (p.Glu466Asp)
c.1539G>T (n.1539G>T)
c.195G>T (p.Glu65Asp)
c.1536G>T (p.Glu512Asp)
c.1047G>T (p.Glu349Asp)
3g.93884780C>GCA353667809PROS1c.1440G>C (p.Glu480Asp)
c.1395G>C (p.Glu465Asp)
n.1608G>C
c.1398G>C (p.Glu466Asp)
c.1539G>C (n.1539G>C)
c.195G>C (p.Glu65Asp)
c.1536G>C (p.Glu512Asp)
c.1047G>C (p.Glu349Asp)
3g.93884780C>TCA434458917PROS1c.1440G>A (p.Glu480=)
c.1395G>A (p.Glu465=)
n.1608G>A
c.1398G>A (p.Glu466=)
c.1539G>A (n.1539G>A)
c.195G>A (p.Glu65=)
c.1536G>A (p.Glu512=)
c.1047G>A (p.Glu349=)
3g.93884781T>ACA353667813PROS1c.1439A>T (p.Glu480Val)
c.1394A>T (p.Glu465Val)
n.1607A>T
c.1397A>T (p.Glu466Val)
c.1538A>T (n.1538A>T)
c.194A>T (p.Glu65Val)
c.1535A>T (p.Glu512Val)
c.1046A>T (p.Glu349Val)
3g.93884781T>CCA353667810PROS1c.1439A>G (p.Glu480Gly)
c.1394A>G (p.Glu465Gly)
n.1607A>G
c.1397A>G (p.Glu466Gly)
c.1538A>G (n.1538A>G)
c.194A>G (p.Glu65Gly)
c.1535A>G (p.Glu512Gly)
c.1046A>G (p.Glu349Gly)
3g.93884781T>GCA353667811PROS1c.1439A>C (p.Glu480Ala)
c.1394A>C (p.Glu465Ala)
n.1607A>C
c.1397A>C (p.Glu466Ala)
c.1538A>C (n.1538A>C)
c.194A>C (p.Glu65Ala)
c.1535A>C (p.Glu512Ala)
c.1046A>C (p.Glu349Ala)
3g.93884781_93884783delinsTCCCA1385033059PROS1c.1437_1439delinsGGA (p.Val479=)
c.1392_1394delinsGGA (p.Val464=)
n.1605_1607delinsGGA
c.1395_1397delinsGGA (p.Val465=)
c.1536_1538delinsGGA (n.1536_1538delinsGGA)
c.192_194delinsGGA (p.Val64=)
c.1533_1535delinsGGA (p.Val511=)
c.1044_1046delinsGGA (p.Val348=)
3g.93884782C>ACA353667819PROS1c.1438G>T (p.Glu480Ter)
c.1393G>T (p.Glu465Ter)
n.1606G>T
c.1396G>T (p.Glu466Ter)
c.1537G>T (n.1537G>T)
c.193G>T (p.Glu65Ter)
c.1534G>T (p.Glu512Ter)
c.1045G>T (p.Glu349Ter)
3g.93884782C>GCA353667821PROS1c.1438G>C (p.Glu480Gln)
c.1393G>C (p.Glu465Gln)
n.1606G>C
c.1396G>C (p.Glu466Gln)
c.1537G>C (n.1537G>C)
c.193G>C (p.Glu65Gln)
c.1534G>C (p.Glu512Gln)
c.1045G>C (p.Glu349Gln)
COSMIC
3g.93884782C>TCA353667823PROS1c.1438G>A (p.Glu480Lys)
c.1393G>A (p.Glu465Lys)
n.1606G>A
c.1396G>A (p.Glu466Lys)
c.1537G>A (n.1537G>A)
c.193G>A (p.Glu65Lys)
c.1534G>A (p.Glu512Lys)
c.1045G>A (p.Glu349Lys)
gnomAD v4
3g.93884782_93884783delCA78477894PROS1c.1437_1438del (p.Lys481GlyfsTer17)
c.1392_1393del (p.Lys466GlyfsTer17)
n.1605_1606del
c.1395_1396del (p.Lys467GlyfsTer17)
c.1536_1537del (n.1536_1537del)
c.192_193del (p.Lys66GlyfsTer17)
c.1533_1534del (p.Lys513GlyfsTer17)
c.1044_1045del (p.Lys350GlyfsTer17)
dbSNP
3g.93884783C>ACA434458918PROS1c.1437G>T (p.Val479=)
c.1392G>T (p.Val464=)
n.1605G>T
c.1395G>T (p.Val465=)
c.1536G>T (n.1536G>T)
c.192G>T (p.Val64=)
c.1533G>T (p.Val511=)
c.1044G>T (p.Val348=)
3g.93884783C>GCA434458919PROS1c.1437G>C (p.Val479=)
c.1392G>C (p.Val464=)
n.1605G>C
c.1395G>C (p.Val465=)
c.1536G>C (n.1536G>C)
c.192G>C (p.Val64=)
c.1533G>C (p.Val511=)
c.1044G>C (p.Val348=)
3g.93884783C>TCA434458920PROS1c.1437G>A (p.Val479=)
c.1392G>A (p.Val464=)
n.1605G>A
c.1395G>A (p.Val465=)
c.1536G>A (n.1536G>A)
c.192G>A (p.Val64=)
c.1533G>A (p.Val511=)
c.1044G>A (p.Val348=)
gnomAD v4
3g.93884784A>CCA353667827PROS1c.1436T>G (p.Val479Gly)
c.1391T>G (p.Val464Gly)
n.1604T>G
c.1394T>G (p.Val465Gly)
c.1535T>G (n.1535T>G)
c.191T>G (p.Val64Gly)
c.1532T>G (p.Val511Gly)
c.1043T>G (p.Val348Gly)
3g.93884784A>GCA353667828PROS1c.1436T>C (p.Val479Ala)
c.1391T>C (p.Val464Ala)
n.1604T>C
c.1394T>C (p.Val465Ala)
c.1535T>C (n.1535T>C)
c.191T>C (p.Val64Ala)
c.1532T>C (p.Val511Ala)
c.1043T>C (p.Val348Ala)
3g.93884784A>TCA353667829PROS1c.1436T>A (p.Val479Glu)
c.1391T>A (p.Val464Glu)
n.1604T>A
c.1394T>A (p.Val465Glu)
c.1535T>A (n.1535T>A)
c.191T>A (p.Val64Glu)
c.1532T>A (p.Val511Glu)
c.1043T>A (p.Val348Glu)
3g.93884785C>ACA353667830PROS1c.1435G>T (p.Val479Leu)
c.1390G>T (p.Val464Leu)
n.1603G>T
c.1393G>T (p.Val465Leu)
c.1534G>T (n.1534G>T)
c.190G>T (p.Val64Leu)
c.1531G>T (p.Val511Leu)
c.1042G>T (p.Val348Leu)
dbSNP gnomAD v4
3g.93884785C=CA1385033060PROS1c.1435G= (p.Val479=)
c.1390G= (p.Val464=)
n.1603G=
c.1393G= (p.Val465=)
c.1534G= (n.1534G=)
c.190G= (p.Val64=)
c.1531G= (p.Val511=)
c.1042G= (p.Val348=)
3g.93884785C>GCA353667831PROS1c.1435G>C (p.Val479Leu)
c.1390G>C (p.Val464Leu)
n.1603G>C
c.1393G>C (p.Val465Leu)
c.1534G>C (n.1534G>C)
c.190G>C (p.Val64Leu)
c.1531G>C (p.Val511Leu)
c.1042G>C (p.Val348Leu)
3g.93884785C>TCA353667833PROS1c.1435G>A (p.Val479Met)
c.1390G>A (p.Val464Met)
n.1603G>A
c.1393G>A (p.Val465Met)
c.1534G>A (n.1534G>A)
c.190G>A (p.Val64Met)
c.1531G>A (p.Val511Met)
c.1042G>A (p.Val348Met)
gnomAD v4
3g.93884786A=CA1385033061PROS1c.1434T= (p.Thr478=)
c.1389T= (p.Thr463=)
n.1602T=
c.1392T= (p.Thr464=)
c.1533T= (n.1533T=)
c.189T= (p.Thr63=)
c.1530T= (p.Thr510=)
c.1041T= (p.Thr347=)
3g.93884786A>CCA434458921PROS1c.1434T>G (p.Thr478=)
c.1389T>G (p.Thr463=)
n.1602T>G
c.1392T>G (p.Thr464=)
c.1533T>G (n.1533T>G)
c.189T>G (p.Thr63=)
c.1530T>G (p.Thr510=)
c.1041T>G (p.Thr347=)
3g.93884786A>GCA2503192PROS1c.1434T>C (p.Thr478=)
c.1389T>C (p.Thr463=)
n.1602T>C
c.1392T>C (p.Thr464=)
c.1533T>C (n.1533T>C)
c.189T>C (p.Thr63=)
c.1530T>C (p.Thr510=)
c.1041T>C (p.Thr347=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.93884786A>TCA434458922PROS1c.1434T>A (p.Thr478=)
c.1389T>A (p.Thr463=)
n.1602T>A
c.1392T>A (p.Thr464=)
c.1533T>A (n.1533T>A)
c.189T>A (p.Thr63=)
c.1530T>A (p.Thr510=)
c.1041T>A (p.Thr347=)
dbSNP gnomAD v3 gnomAD v4
3g.93884787G>ACA353667843PROS1c.1433C>T (p.Thr478Ile)
c.1388C>T (p.Thr463Ile)
n.1601C>T
c.1391C>T (p.Thr464Ile)
c.1532C>T (n.1532C>T)
c.188C>T (p.Thr63Ile)
c.1529C>T (p.Thr510Ile)
c.1040C>T (p.Thr347Ile)
gnomAD v4
3g.93884787G>CCA353667841PROS1c.1433C>G (p.Thr478Ser)
c.1388C>G (p.Thr463Ser)
n.1601C>G
c.1391C>G (p.Thr464Ser)
c.1532C>G (n.1532C>G)
c.188C>G (p.Thr63Ser)
c.1529C>G (p.Thr510Ser)
c.1040C>G (p.Thr347Ser)
dbSNP gnomAD v4
3g.93884787G=CA1385033062PROS1c.1433C= (p.Thr478=)
c.1388C= (p.Thr463=)
n.1601C=
c.1391C= (p.Thr464=)
c.1532C= (n.1532C=)
c.188C= (p.Thr63=)
c.1529C= (p.Thr510=)
c.1040C= (p.Thr347=)
3g.93884787G>TCA353667839PROS1c.1433C>A (p.Thr478Asn)
c.1388C>A (p.Thr463Asn)
n.1601C>A
c.1391C>A (p.Thr464Asn)
c.1532C>A (n.1532C>A)
c.188C>A (p.Thr63Asn)
c.1529C>A (p.Thr510Asn)
c.1040C>A (p.Thr347Asn)
dbSNP gnomAD v2 gnomAD v4
3g.93884788T>ACA353667845PROS1c.1432A>T (p.Thr478Ser)
c.1387A>T (p.Thr463Ser)
n.1600A>T
c.1390A>T (p.Thr464Ser)
c.1531A>T (n.1531A>T)
c.187A>T (p.Thr63Ser)
c.1528A>T (p.Thr510Ser)
c.1039A>T (p.Thr347Ser)
gnomAD v4
3g.93884788T>CCA353667848PROS1c.1432A>G (p.Thr478Ala)
c.1387A>G (p.Thr463Ala)
n.1600A>G
c.1390A>G (p.Thr464Ala)
c.1531A>G (n.1531A>G)
c.187A>G (p.Thr63Ala)
c.1528A>G (p.Thr510Ala)
c.1039A>G (p.Thr347Ala)
dbSNP
3g.93884788T>GCA353667847PROS1c.1432A>C (p.Thr478Pro)
c.1387A>C (p.Thr463Pro)
n.1600A>C
c.1390A>C (p.Thr464Pro)
c.1531A>C (n.1531A>C)
c.187A>C (p.Thr63Pro)
c.1528A>C (p.Thr510Pro)
c.1039A>C (p.Thr347Pro)
3g.93884788T=CA1385033063PROS1c.1432A= (p.Thr478=)
c.1387A= (p.Thr463=)
n.1600A=
c.1390A= (p.Thr464=)
c.1531A= (n.1531A=)
c.187A= (p.Thr63=)
c.1528A= (p.Thr510=)
c.1039A= (p.Thr347=)
3g.93884788dupCA2586972599PROS1c.1432dup (p.Thr478AsnfsTer21)
c.1387dup (p.Thr463AsnfsTer21)
n.1600dup
c.1390dup (p.Thr464AsnfsTer21)
c.1531dup (n.1531dup)
c.187dup (p.Thr63AsnfsTer21)
c.1528dup (p.Thr510AsnfsTer21)
c.1039dup (p.Thr347AsnfsTer21)
3g.93884789A>CCA434458923PROS1c.1431T>G (p.Val477=)
c.1386T>G (p.Val462=)
n.1599T>G
c.1389T>G (p.Val463=)
c.1530T>G (n.1530T>G)
c.186T>G (p.Val62=)
c.1527T>G (p.Val509=)
c.1038T>G (p.Val346=)
3g.93884789A>GCA434458924PROS1c.1431T>C (p.Val477=)
c.1386T>C (p.Val462=)
n.1599T>C
c.1389T>C (p.Val463=)
c.1530T>C (n.1530T>C)
c.186T>C (p.Val62=)
c.1527T>C (p.Val509=)
c.1038T>C (p.Val346=)
3g.93884789A>TCA434458925PROS1c.1431T>A (p.Val477=)
c.1386T>A (p.Val462=)
n.1599T>A
c.1389T>A (p.Val463=)
c.1530T>A (n.1530T>A)
c.186T>A (p.Val62=)
c.1527T>A (p.Val509=)
c.1038T>A (p.Val346=)
3g.93884790A>CCA353667853PROS1c.1430T>G (p.Val477Gly)
c.1385T>G (p.Val462Gly)
n.1598T>G
c.1388T>G (p.Val463Gly)
c.1529T>G (n.1529T>G)
c.185T>G (p.Val62Gly)
c.1526T>G (p.Val509Gly)
c.1037T>G (p.Val346Gly)
3g.93884790A>GCA353667856PROS1c.1430T>C (p.Val477Ala)
c.1385T>C (p.Val462Ala)
n.1598T>C
c.1388T>C (p.Val463Ala)
c.1529T>C (n.1529T>C)
c.185T>C (p.Val62Ala)
c.1526T>C (p.Val509Ala)
c.1037T>C (p.Val346Ala)
3g.93884790A>TCA353667857PROS1c.1430T>A (p.Val477Asp)
c.1385T>A (p.Val462Asp)
n.1598T>A
c.1388T>A (p.Val463Asp)
c.1529T>A (n.1529T>A)
c.185T>A (p.Val62Asp)
c.1526T>A (p.Val509Asp)
c.1037T>A (p.Val346Asp)
3g.93884791C>ACA353667859PROS1c.1429G>T (p.Val477Phe)
c.1384G>T (p.Val462Phe)
n.1597G>T
c.1387G>T (p.Val463Phe)
c.1528G>T (n.1528G>T)
c.184G>T (p.Val62Phe)
c.1525G>T (p.Val509Phe)
c.1036G>T (p.Val346Phe)
COSMIC
3g.93884791C>GCA353667860PROS1c.1429G>C (p.Val477Leu)
c.1384G>C (p.Val462Leu)
n.1597G>C
c.1387G>C (p.Val463Leu)
c.1528G>C (n.1528G>C)
c.184G>C (p.Val62Leu)
c.1525G>C (p.Val509Leu)
c.1036G>C (p.Val346Leu)
3g.93884791C>TCA353667861PROS1c.1429G>A (p.Val477Ile)
c.1384G>A (p.Val462Ile)
n.1597G>A
c.1387G>A (p.Val463Ile)
c.1528G>A (n.1528G>A)
c.184G>A (p.Val62Ile)
c.1525G>A (p.Val509Ile)
c.1036G>A (p.Val346Ile)
3g.93884792C>ACA434458926PROS1c.1428G>T (p.Leu476=)
c.1383G>T (p.Leu461=)
n.1596G>T
c.1386G>T (p.Leu462=)
c.1527G>T (n.1527G>T)
c.183G>T (p.Leu61=)
c.1524G>T (p.Leu508=)
c.1035G>T (p.Leu345=)
3g.93884792C=CA1385033064PROS1c.1428G= (p.Leu476=)
c.1383G= (p.Leu461=)
n.1596G=
c.1386G= (p.Leu462=)
c.1527G= (n.1527G=)
c.183G= (p.Leu61=)
c.1524G= (p.Leu508=)
c.1035G= (p.Leu345=)
3g.93884792C>GCA434458927PROS1c.1428G>C (p.Leu476=)
c.1383G>C (p.Leu461=)
n.1596G>C
c.1386G>C (p.Leu462=)
c.1527G>C (n.1527G>C)
c.183G>C (p.Leu61=)
c.1524G>C (p.Leu508=)
c.1035G>C (p.Leu345=)
3g.93884792C>TCA2503193PROS1c.1428G>A (p.Leu476=)
c.1383G>A (p.Leu461=)
n.1596G>A
c.1386G>A (p.Leu462=)
c.1527G>A (n.1527G>A)
c.183G>A (p.Leu61=)
c.1524G>A (p.Leu508=)
c.1035G>A (p.Leu345=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.93884793A=CA1385033065PROS1c.1427T= (p.Leu476=)
c.1382T= (p.Leu461=)
n.1595T=
c.1385T= (p.Leu462=)
c.1526T= (n.1526T=)
c.182T= (p.Leu61=)
c.1523T= (p.Leu508=)
c.1034T= (p.Leu345=)
3g.93884793A>CCA353667866PROS1c.1427T>G (p.Leu476Arg)
c.1382T>G (p.Leu461Arg)
n.1595T>G
c.1385T>G (p.Leu462Arg)
c.1526T>G (n.1526T>G)
c.182T>G (p.Leu61Arg)
c.1523T>G (p.Leu508Arg)
c.1034T>G (p.Leu345Arg)
3g.93884793A>GCA353667867PROS1c.1427T>C (p.Leu476Pro)
c.1382T>C (p.Leu461Pro)
n.1595T>C
c.1385T>C (p.Leu462Pro)
c.1526T>C (n.1526T>C)
c.182T>C (p.Leu61Pro)
c.1523T>C (p.Leu508Pro)
c.1034T>C (p.Leu345Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884793A>TCA353667871PROS1c.1427T>A (p.Leu476Gln)
c.1382T>A (p.Leu461Gln)
n.1595T>A
c.1385T>A (p.Leu462Gln)
c.1526T>A (n.1526T>A)
c.182T>A (p.Leu61Gln)
c.1523T>A (p.Leu508Gln)
c.1034T>A (p.Leu345Gln)
3g.93884794G>ACA434458928PROS1c.1426C>T (p.Leu476=)
c.1381C>T (p.Leu461=)
n.1594C>T
c.1384C>T (p.Leu462=)
c.1525C>T (n.1525C>T)
c.181C>T (p.Leu61=)
c.1522C>T (p.Leu508=)
c.1033C>T (p.Leu345=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884794G>CCA353667872PROS1c.1426C>G (p.Leu476Val)
c.1381C>G (p.Leu461Val)
n.1594C>G
c.1384C>G (p.Leu462Val)
c.1525C>G (n.1525C>G)
c.181C>G (p.Leu61Val)
c.1522C>G (p.Leu508Val)
c.1033C>G (p.Leu345Val)
3g.93884794G=CA1385033066PROS1c.1426C= (p.Leu476=)
c.1381C= (p.Leu461=)
n.1594C=
c.1384C= (p.Leu462=)
c.1525C= (n.1525C=)
c.181C= (p.Leu61=)
c.1522C= (p.Leu508=)
c.1033C= (p.Leu345=)
3g.93884794G>TCA353667873PROS1c.1426C>A (p.Leu476Met)
c.1381C>A (p.Leu461Met)
n.1594C>A
c.1384C>A (p.Leu462Met)
c.1525C>A (n.1525C>A)
c.181C>A (p.Leu61Met)
c.1522C>A (p.Leu508Met)
c.1033C>A (p.Leu345Met)
3g.93884795G>ACA434458929PROS1c.1425C>T (p.Cys475=)
c.1380C>T (p.Cys460=)
n.1593C>T
c.1383C>T (p.Cys461=)
c.1524C>T (n.1524C>T)
c.180C>T (p.Cys60=)
c.1521C>T (p.Cys507=)
c.1032C>T (p.Cys344=)
gnomAD v4
3g.93884795G>CCA353667878PROS1c.1425C>G (p.Cys475Trp)
c.1380C>G (p.Cys460Trp)
n.1593C>G
c.1383C>G (p.Cys461Trp)
c.1524C>G (n.1524C>G)
c.180C>G (p.Cys60Trp)
c.1521C>G (p.Cys507Trp)
c.1032C>G (p.Cys344Trp)
3g.93884795G>TCA353667876PROS1c.1425C>A (p.Cys475Ter)
c.1380C>A (p.Cys460Ter)
n.1593C>A
c.1383C>A (p.Cys461Ter)
c.1524C>A (n.1524C>A)
c.180C>A (p.Cys60Ter)
c.1521C>A (p.Cys507Ter)
c.1032C>A (p.Cys344Ter)
3g.93884796C>ACA2503194PROS1c.1424G>T (p.Cys475Phe)
c.1379G>T (p.Cys460Phe)
n.1592G>T
c.1382G>T (p.Cys461Phe)
c.1523G>T (n.1523G>T)
c.179G>T (p.Cys60Phe)
c.1520G>T (p.Cys507Phe)
c.1031G>T (p.Cys344Phe)
ClinVar dbSNP ExAC gnomAD v2
3g.93884796C=CA1385033067PROS1c.1424G= (p.Cys475=)
c.1379G= (p.Cys460=)
n.1592G=
c.1382G= (p.Cys461=)
c.1523G= (n.1523G=)
c.179G= (p.Cys60=)
c.1520G= (p.Cys507=)
c.1031G= (p.Cys344=)
3g.93884796C>GCA353667890PROS1c.1424G>C (p.Cys475Ser)
c.1379G>C (p.Cys460Ser)
n.1592G>C
c.1382G>C (p.Cys461Ser)
c.1523G>C (n.1523G>C)
c.179G>C (p.Cys60Ser)
c.1520G>C (p.Cys507Ser)
c.1031G>C (p.Cys344Ser)
3g.93884796C>TCA353667892PROS1c.1424G>A (p.Cys475Tyr)
c.1379G>A (p.Cys460Tyr)
n.1592G>A
c.1382G>A (p.Cys461Tyr)
c.1523G>A (n.1523G>A)
c.179G>A (p.Cys60Tyr)
c.1520G>A (p.Cys507Tyr)
c.1031G>A (p.Cys344Tyr)
ClinVar dbSNP
3g.93884797A>CCA353667893PROS1c.1423T>G (p.Cys475Gly)
c.1378T>G (p.Cys460Gly)
n.1591T>G
c.1381T>G (p.Cys461Gly)
c.1522T>G (n.1522T>G)
c.178T>G (p.Cys60Gly)
c.1519T>G (p.Cys507Gly)
c.1030T>G (p.Cys344Gly)
3g.93884797A>GCA353667894PROS1c.1423T>C (p.Cys475Arg)
c.1378T>C (p.Cys460Arg)
n.1591T>C
c.1381T>C (p.Cys461Arg)
c.1522T>C (n.1522T>C)
c.178T>C (p.Cys60Arg)
c.1519T>C (p.Cys507Arg)
c.1030T>C (p.Cys344Arg)
3g.93884797A>TCA353667895PROS1c.1423T>A (p.Cys475Ser)
c.1378T>A (p.Cys460Ser)
n.1591T>A
c.1381T>A (p.Cys461Ser)
c.1522T>A (n.1522T>A)
c.178T>A (p.Cys60Ser)
c.1519T>A (p.Cys507Ser)
c.1030T>A (p.Cys344Ser)
3g.93884798A>CCA353667897PROS1c.1422T>G (p.His474Gln)
c.1377T>G (p.His459Gln)
n.1590T>G
c.1380T>G (p.His460Gln)
c.1521T>G (n.1521T>G)
c.177T>G (p.His59Gln)
c.1518T>G (p.His506Gln)
c.1029T>G (p.His343Gln)
3g.93884798A>GCA434458930PROS1c.1422T>C (p.His474=)
c.1377T>C (p.His459=)
n.1590T>C
c.1380T>C (p.His460=)
c.1521T>C (n.1521T>C)
c.177T>C (p.His59=)
c.1518T>C (p.His506=)
c.1029T>C (p.His343=)
3g.93884798A>TCA353667896PROS1c.1422T>A (p.His474Gln)
c.1377T>A (p.His459Gln)
n.1590T>A
c.1380T>A (p.His460Gln)
c.1521T>A (n.1521T>A)
c.177T>A (p.His59Gln)
c.1518T>A (p.His506Gln)
c.1029T>A (p.His343Gln)
3g.93884799T>ACA2503195PROS1c.1421A>T (p.His474Leu)
c.1376A>T (p.His459Leu)
n.1589A>T
c.1379A>T (p.His460Leu)
c.1520A>T (n.1520A>T)
c.176A>T (p.His59Leu)
c.1517A>T (p.His506Leu)
c.1028A>T (p.His343Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.93884799T>CCA353667902PROS1c.1421A>G (p.His474Arg)
c.1376A>G (p.His459Arg)
n.1589A>G
c.1379A>G (p.His460Arg)
c.1520A>G (n.1520A>G)
c.176A>G (p.His59Arg)
c.1517A>G (p.His506Arg)
c.1028A>G (p.His343Arg)
3g.93884799T>GCA353667904PROS1c.1421A>C (p.His474Pro)
c.1376A>C (p.His459Pro)
n.1589A>C
c.1379A>C (p.His460Pro)
c.1520A>C (n.1520A>C)
c.176A>C (p.His59Pro)
c.1517A>C (p.His506Pro)
c.1028A>C (p.His343Pro)
3g.93884799T=CA1385033068PROS1c.1421A= (p.His474=)
c.1376A= (p.His459=)
n.1589A=
c.1379A= (p.His460=)
c.1520A= (n.1520A=)
c.176A= (p.His59=)
c.1517A= (p.His506=)
c.1028A= (p.His343=)
3g.93884800G>ACA353667906PROS1c.1420C>T (p.His474Tyr)
c.1375C>T (p.His459Tyr)
n.1588C>T
c.1378C>T (p.His460Tyr)
c.1519C>T (n.1519C>T)
c.175C>T (p.His59Tyr)
c.1516C>T (p.His506Tyr)
c.1027C>T (p.His343Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.93884800G>CCA353667909PROS1c.1420C>G (p.His474Asp)
c.1375C>G (p.His459Asp)
n.1588C>G
c.1378C>G (p.His460Asp)
c.1519C>G (n.1519C>G)
c.175C>G (p.His59Asp)
c.1516C>G (p.His506Asp)
c.1027C>G (p.His343Asp)
3g.93884800G=CA1385033069PROS1c.1420C= (p.His474=)
c.1375C= (p.His459=)
n.1588C=
c.1378C= (p.His460=)
c.1519C= (n.1519C=)
c.175C= (p.His59=)
c.1516C= (p.His506=)
c.1027C= (p.His343=)
3g.93884800G>TCA353667911PROS1c.1420C>A (p.His474Asn)
c.1375C>A (p.His459Asn)
n.1588C>A
c.1378C>A (p.His460Asn)
c.1519C>A (n.1519C>A)
c.175C>A (p.His59Asn)
c.1516C>A (p.His506Asn)
c.1027C>A (p.His343Asn)
3g.93884801C>ACA353667912PROS1c.1419G>T (p.Lys473Asn)
c.1374G>T (p.Lys458Asn)
n.1587G>T
c.1377G>T (p.Lys459Asn)
c.1518G>T (n.1518G>T)
c.174G>T (p.Lys58Asn)
c.1515G>T (p.Lys505Asn)
c.1026G>T (p.Lys342Asn)
ClinVar
3g.93884801C=CA1385033070PROS1c.1419G= (p.Lys473=)
c.1374G= (p.Lys458=)
n.1587G=
c.1377G= (p.Lys459=)
c.1518G= (n.1518G=)
c.174G= (p.Lys58=)
c.1515G= (p.Lys505=)
c.1026G= (p.Lys342=)
3g.93884801C>GCA353667915PROS1c.1419G>C (p.Lys473Asn)
c.1374G>C (p.Lys458Asn)
n.1587G>C
c.1377G>C (p.Lys459Asn)
c.1518G>C (n.1518G>C)
c.174G>C (p.Lys58Asn)
c.1515G>C (p.Lys505Asn)
c.1026G>C (p.Lys342Asn)
3g.93884801C>TCA78477911PROS1c.1419G>A (p.Lys473=)
c.1374G>A (p.Lys458=)
n.1587G>A
c.1377G>A (p.Lys459=)
c.1518G>A (n.1518G>A)
c.174G>A (p.Lys58=)
c.1515G>A (p.Lys505=)
c.1026G>A (p.Lys342=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884802T>ACA353667917PROS1c.1418A>T (p.Lys473Met)
c.1373A>T (p.Lys458Met)
n.1586A>T
c.1376A>T (p.Lys459Met)
c.1517A>T (n.1517A>T)
c.173A>T (p.Lys58Met)
c.1514A>T (p.Lys505Met)
c.1025A>T (p.Lys342Met)
3g.93884802T>CCA353667919PROS1c.1418A>G (p.Lys473Arg)
c.1373A>G (p.Lys458Arg)
n.1586A>G
c.1376A>G (p.Lys459Arg)
c.1517A>G (n.1517A>G)
c.173A>G (p.Lys58Arg)
c.1514A>G (p.Lys505Arg)
c.1025A>G (p.Lys342Arg)
3g.93884802T>GCA353667922PROS1c.1418A>C (p.Lys473Thr)
c.1373A>C (p.Lys458Thr)
n.1586A>C
c.1376A>C (p.Lys459Thr)
c.1517A>C (n.1517A>C)
c.173A>C (p.Lys58Thr)
c.1514A>C (p.Lys505Thr)
c.1025A>C (p.Lys342Thr)
3g.93884803T>ACA353667932PROS1c.1417A>T (p.Lys473Ter)
c.1372A>T (p.Lys458Ter)
n.1585A>T
c.1375A>T (p.Lys459Ter)
c.1516A>T (n.1516A>T)
c.172A>T (p.Lys58Ter)
c.1513A>T (p.Lys505Ter)
c.1024A>T (p.Lys342Ter)
3g.93884803T>CCA353667942PROS1c.1417A>G (p.Lys473Glu)
c.1372A>G (p.Lys458Glu)
n.1585A>G
c.1375A>G (p.Lys459Glu)
c.1516A>G (n.1516A>G)
c.172A>G (p.Lys58Glu)
c.1513A>G (p.Lys505Glu)
c.1024A>G (p.Lys342Glu)
3g.93884803T>GCA353667947PROS1c.1417A>C (p.Lys473Gln)
c.1372A>C (p.Lys458Gln)
n.1585A>C
c.1375A>C (p.Lys459Gln)
c.1516A>C (n.1516A>C)
c.172A>C (p.Lys58Gln)
c.1513A>C (p.Lys505Gln)
c.1024A>C (p.Lys342Gln)
3g.93884804A>CCA353668571PROS1c.1416T>G (p.Asn472Lys)
c.1371T>G (p.Asn457Lys)
n.1584T>G
c.1374T>G (p.Asn458Lys)
c.1515T>G (n.1515T>G)
c.171T>G (p.Asn57Lys)
c.1512T>G (p.Asn504Lys)
c.1023T>G (p.Asn341Lys)
3g.93884804A>GCA434459024PROS1c.1416T>C (p.Asn472=)
c.1371T>C (p.Asn457=)
n.1584T>C
c.1374T>C (p.Asn458=)
c.1515T>C (n.1515T>C)
c.171T>C (p.Asn57=)
c.1512T>C (p.Asn504=)
c.1023T>C (p.Asn341=)
3g.93884804A>TCA353668572PROS1c.1416T>A (p.Asn472Lys)
c.1371T>A (p.Asn457Lys)
n.1584T>A
c.1374T>A (p.Asn458Lys)
c.1515T>A (n.1515T>A)
c.171T>A (p.Asn57Lys)
c.1512T>A (p.Asn504Lys)
c.1023T>A (p.Asn341Lys)
3g.93884805T>ACA353668574PROS1c.1415A>T (p.Asn472Ile)
c.1370A>T (p.Asn457Ile)
n.1583A>T
c.1373A>T (p.Asn458Ile)
c.1514A>T (n.1514A>T)
c.170A>T (p.Asn57Ile)
c.1511A>T (p.Asn504Ile)
c.1022A>T (p.Asn341Ile)
dbSNP
3g.93884805T>CCA353668575PROS1c.1415A>G (p.Asn472Ser)
c.1370A>G (p.Asn457Ser)
n.1583A>G
c.1373A>G (p.Asn458Ser)
c.1514A>G (n.1514A>G)
c.170A>G (p.Asn57Ser)
c.1511A>G (p.Asn504Ser)
c.1022A>G (p.Asn341Ser)
gnomAD v4
3g.93884805T>GCA353668576PROS1c.1415A>C (p.Asn472Thr)
c.1370A>C (p.Asn457Thr)
n.1583A>C
c.1373A>C (p.Asn458Thr)
c.1514A>C (n.1514A>C)
c.170A>C (p.Asn57Thr)
c.1511A>C (p.Asn504Thr)
c.1022A>C (p.Asn341Thr)
3g.93884808dupCA2586972600PROS1c.1415dup (p.Asn472LysfsTer2)
c.1370dup (p.Asn457LysfsTer2)
n.1583dup
c.1373dup (p.Asn458LysfsTer2)
c.1514dup (n.1514dup)
c.170dup (p.Asn57LysfsTer2)
c.1511dup (p.Asn504LysfsTer2)
c.1022dup (p.Asn341LysfsTer2)
3g.93884806T>ACA353668577PROS1c.1414A>T (p.Asn472Tyr)
c.1369A>T (p.Asn457Tyr)
n.1582A>T
c.1372A>T (p.Asn458Tyr)
c.1513A>T (n.1513A>T)
c.169A>T (p.Asn57Tyr)
c.1510A>T (p.Asn504Tyr)
c.1021A>T (p.Asn341Tyr)
3g.93884806T>CCA353668578PROS1c.1414A>G (p.Asn472Asp)
c.1369A>G (p.Asn457Asp)
n.1582A>G
c.1372A>G (p.Asn458Asp)
c.1513A>G (n.1513A>G)
c.169A>G (p.Asn57Asp)
c.1510A>G (p.Asn504Asp)
c.1021A>G (p.Asn341Asp)
3g.93884806T>GCA353668579PROS1c.1414A>C (p.Asn472His)
c.1369A>C (p.Asn457His)
n.1582A>C
c.1372A>C (p.Asn458His)
c.1513A>C (n.1513A>C)
c.169A>C (p.Asn57His)
c.1510A>C (p.Asn504His)
c.1021A>C (p.Asn341His)
dbSNP
3g.93884806T=CA1385033071PROS1c.1414A= (p.Asn472=)
c.1369A= (p.Asn457=)
n.1582A=
c.1372A= (p.Asn458=)
c.1513A= (n.1513A=)
c.169A= (p.Asn57=)
c.1510A= (p.Asn504=)
c.1021A= (p.Asn341=)
3g.93884807T>ACA353668580PROS1c.1413A>T (p.Gln471His)
c.1368A>T (p.Gln456His)
n.1581A>T
c.1371A>T (p.Gln457His)
c.1512A>T (n.1512A>T)
c.168A>T (p.Gln56His)
c.1509A>T (p.Gln503His)
c.1020A>T (p.Gln340His)
3g.93884807T>CCA434459025PROS1c.1413A>G (p.Gln471=)
c.1368A>G (p.Gln456=)
n.1581A>G
c.1371A>G (p.Gln457=)
c.1512A>G (n.1512A>G)
c.168A>G (p.Gln56=)
c.1509A>G (p.Gln503=)
c.1020A>G (p.Gln340=)
3g.93884807T>GCA353668581PROS1c.1413A>C (p.Gln471His)
c.1368A>C (p.Gln456His)
n.1581A>C
c.1371A>C (p.Gln457His)
c.1512A>C (n.1512A>C)
c.168A>C (p.Gln56His)
c.1509A>C (p.Gln503His)
c.1020A>C (p.Gln340His)
3g.93884808T>ACA353668582PROS1c.1412A>T (p.Gln471Leu)
c.1367A>T (p.Gln456Leu)
n.1580A>T
c.1370A>T (p.Gln457Leu)
c.1511A>T (n.1511A>T)
c.167A>T (p.Gln56Leu)
c.1508A>T (p.Gln503Leu)
c.1019A>T (p.Gln340Leu)
3g.93884808T>CCA353668584PROS1c.1412A>G (p.Gln471Arg)
c.1367A>G (p.Gln456Arg)
n.1580A>G
c.1370A>G (p.Gln457Arg)
c.1511A>G (n.1511A>G)
c.167A>G (p.Gln56Arg)
c.1508A>G (p.Gln503Arg)
c.1019A>G (p.Gln340Arg)
3g.93884808T>GCA353668588PROS1c.1412A>C (p.Gln471Pro)
c.1367A>C (p.Gln456Pro)
n.1580A>C
c.1370A>C (p.Gln457Pro)
c.1511A>C (n.1511A>C)
c.167A>C (p.Gln56Pro)
c.1508A>C (p.Gln503Pro)
c.1019A>C (p.Gln340Pro)
3g.93884809G>ACA353668589PROS1c.1411C>T (p.Gln471Ter)
c.1366C>T (p.Gln456Ter)
n.1579C>T
c.1369C>T (p.Gln457Ter)
c.1510C>T (n.1510C>T)
c.166C>T (p.Gln56Ter)
c.1507C>T (p.Gln503Ter)
c.1018C>T (p.Gln340Ter)
3g.93884809G>CCA353668590PROS1c.1411C>G (p.Gln471Glu)
c.1366C>G (p.Gln456Glu)
n.1579C>G
c.1369C>G (p.Gln457Glu)
c.1510C>G (n.1510C>G)
c.166C>G (p.Gln56Glu)
c.1507C>G (p.Gln503Glu)
c.1018C>G (p.Gln340Glu)
3g.93884809G=CA1385033072PROS1c.1411C= (p.Gln471=)
c.1366C= (p.Gln456=)
n.1579C=
c.1369C= (p.Gln457=)
c.1510C= (n.1510C=)
c.166C= (p.Gln56=)
c.1507C= (p.Gln503=)
c.1018C= (p.Gln340=)
3g.93884809G>TCA2503196PROS1c.1411C>A (p.Gln471Lys)
c.1366C>A (p.Gln456Lys)
n.1579C>A
c.1369C>A (p.Gln457Lys)
c.1510C>A (n.1510C>A)
c.166C>A (p.Gln56Lys)
c.1507C>A (p.Gln503Lys)
c.1018C>A (p.Gln340Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884810T>ACA353668591PROS1c.1410A>T (p.Lys470Asn)
c.1365A>T (p.Lys455Asn)
n.1578A>T
c.1368A>T (p.Lys456Asn)
c.1509A>T (n.1509A>T)
c.165A>T (p.Lys55Asn)
c.1506A>T (p.Lys502Asn)
c.1017A>T (p.Lys339Asn)
3g.93884810T>CCA434459026PROS1c.1410A>G (p.Lys470=)
c.1365A>G (p.Lys455=)
n.1578A>G
c.1368A>G (p.Lys456=)
c.1509A>G (n.1509A>G)
c.165A>G (p.Lys55=)
c.1506A>G (p.Lys502=)
c.1017A>G (p.Lys339=)
dbSNP gnomAD v4
3g.93884810T>GCA353668592PROS1c.1410A>C (p.Lys470Asn)
c.1365A>C (p.Lys455Asn)
n.1578A>C
c.1368A>C (p.Lys456Asn)
c.1509A>C (n.1509A>C)
c.165A>C (p.Lys55Asn)
c.1506A>C (p.Lys502Asn)
c.1017A>C (p.Lys339Asn)
3g.93884810T=CA1385033073PROS1c.1410A= (p.Lys470=)
c.1365A= (p.Lys455=)
n.1578A=
c.1368A= (p.Lys456=)
c.1509A= (n.1509A=)
c.165A= (p.Lys55=)
c.1506A= (p.Lys502=)
c.1017A= (p.Lys339=)
3g.93884811T>ACA353668593PROS1c.1409A>T (p.Lys470Ile)
c.1364A>T (p.Lys455Ile)
n.1577A>T
c.1367A>T (p.Lys456Ile)
c.1508A>T (n.1508A>T)
c.164A>T (p.Lys55Ile)
c.1505A>T (p.Lys502Ile)
c.1016A>T (p.Lys339Ile)
3g.93884811T>CCA353668595PROS1c.1409A>G (p.Lys470Arg)
c.1364A>G (p.Lys455Arg)
n.1577A>G
c.1367A>G (p.Lys456Arg)
c.1508A>G (n.1508A>G)
c.164A>G (p.Lys55Arg)
c.1505A>G (p.Lys502Arg)
c.1016A>G (p.Lys339Arg)
3g.93884811T>GCA353668597PROS1c.1409A>C (p.Lys470Thr)
c.1364A>C (p.Lys455Thr)
n.1577A>C
c.1367A>C (p.Lys456Thr)
c.1508A>C (n.1508A>C)
c.164A>C (p.Lys55Thr)
c.1505A>C (p.Lys502Thr)
c.1016A>C (p.Lys339Thr)
3g.93884812T>ACA353668599PROS1c.1408A>T (p.Lys470Ter)
c.1363A>T (p.Lys455Ter)
n.1576A>T
c.1366A>T (p.Lys456Ter)
c.1507A>T (n.1507A>T)
c.163A>T (p.Lys55Ter)
c.1504A>T (p.Lys502Ter)
c.1015A>T (p.Lys339Ter)
3g.93884812T>CCA353668604PROS1c.1408A>G (p.Lys470Glu)
c.1363A>G (p.Lys455Glu)
n.1576A>G
c.1366A>G (p.Lys456Glu)
c.1507A>G (n.1507A>G)
c.163A>G (p.Lys55Glu)
c.1504A>G (p.Lys502Glu)
c.1015A>G (p.Lys339Glu)
dbSNP gnomAD v3 gnomAD v4
3g.93884812T>GCA353668600PROS1c.1408A>C (p.Lys470Gln)
c.1363A>C (p.Lys455Gln)
n.1576A>C
c.1366A>C (p.Lys456Gln)
c.1507A>C (n.1507A>C)
c.163A>C (p.Lys55Gln)
c.1504A>C (p.Lys502Gln)
c.1015A>C (p.Lys339Gln)
3g.93884812T=CA1385033074PROS1c.1408A= (p.Lys470=)
c.1363A= (p.Lys455=)
n.1576A=
c.1366A= (p.Lys456=)
c.1507A= (n.1507A=)
c.163A= (p.Lys55=)
c.1504A= (p.Lys502=)
c.1015A= (p.Lys339=)
3g.93884813T>ACA353668607PROS1c.1407A>T (p.Glu469Asp)
c.1362A>T (p.Glu454Asp)
n.1575A>T
c.1365A>T (p.Glu455Asp)
c.1506A>T (n.1506A>T)
c.162A>T (p.Glu54Asp)
c.1503A>T (p.Glu501Asp)
c.1014A>T (p.Glu338Asp)
gnomAD v4
3g.93884813T>CCA434459027PROS1c.1407A>G (p.Glu469=)
c.1362A>G (p.Glu454=)
n.1575A>G
c.1365A>G (p.Glu455=)
c.1506A>G (n.1506A>G)
c.162A>G (p.Glu54=)
c.1503A>G (p.Glu501=)
c.1014A>G (p.Glu338=)
3g.93884813T>GCA353668609PROS1c.1407A>C (p.Glu469Asp)
c.1362A>C (p.Glu454Asp)
n.1575A>C
c.1365A>C (p.Glu455Asp)
c.1506A>C (n.1506A>C)
c.162A>C (p.Glu54Asp)
c.1503A>C (p.Glu501Asp)
c.1014A>C (p.Glu338Asp)
3g.93884814T>ACA353668611PROS1c.1406A>T (p.Glu469Val)
c.1361A>T (p.Glu454Val)
n.1574A>T
c.1364A>T (p.Glu455Val)
c.1505A>T (n.1505A>T)
c.161A>T (p.Glu54Val)
c.1502A>T (p.Glu501Val)
c.1013A>T (p.Glu338Val)
3g.93884814T>CCA2503197PROS1c.1406A>G (p.Glu469Gly)
c.1361A>G (p.Glu454Gly)
n.1574A>G
c.1364A>G (p.Glu455Gly)
c.1505A>G (n.1505A>G)
c.161A>G (p.Glu54Gly)
c.1502A>G (p.Glu501Gly)
c.1013A>G (p.Glu338Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884814T>GCA353668613PROS1c.1406A>C (p.Glu469Ala)
c.1361A>C (p.Glu454Ala)
n.1574A>C
c.1364A>C (p.Glu455Ala)
c.1505A>C (n.1505A>C)
c.161A>C (p.Glu54Ala)
c.1502A>C (p.Glu501Ala)
c.1013A>C (p.Glu338Ala)
3g.93884814T=CA1385033075PROS1c.1406A= (p.Glu469=)
c.1361A= (p.Glu454=)
n.1574A=
c.1364A= (p.Glu455=)
c.1505A= (n.1505A=)
c.161A= (p.Glu54=)
c.1502A= (p.Glu501=)
c.1013A= (p.Glu338=)
3g.93884815C>ACA353668615PROS1c.1405G>T (p.Glu469Ter)
c.1360G>T (p.Glu454Ter)
n.1573G>T
c.1363G>T (p.Glu455Ter)
c.1504G>T (n.1504G>T)
c.160G>T (p.Glu54Ter)
c.1501G>T (p.Glu501Ter)
c.1012G>T (p.Glu338Ter)
ClinVar dbSNP
3g.93884815C=CA1385033076PROS1c.1405G= (p.Glu469=)
c.1360G= (p.Glu454=)
n.1573G=
c.1363G= (p.Glu455=)
c.1504G= (n.1504G=)
c.160G= (p.Glu54=)
c.1501G= (p.Glu501=)
c.1012G= (p.Glu338=)
3g.93884815C>GCA353668617PROS1c.1405G>C (p.Glu469Gln)
c.1360G>C (p.Glu454Gln)
n.1573G>C
c.1363G>C (p.Glu455Gln)
c.1504G>C (n.1504G>C)
c.160G>C (p.Glu54Gln)
c.1501G>C (p.Glu501Gln)
c.1012G>C (p.Glu338Gln)
dbSNP gnomAD v2 gnomAD v4
3g.93884815C>TCA78477918PROS1c.1405G>A (p.Glu469Lys)
c.1360G>A (p.Glu454Lys)
n.1573G>A
c.1363G>A (p.Glu455Lys)
c.1504G>A (n.1504G>A)
c.160G>A (p.Glu54Lys)
c.1501G>A (p.Glu501Lys)
c.1012G>A (p.Glu338Lys)
dbSNP
3g.93884816T>ACA353668619PROS1c.1404A>T (p.Gln468His)
c.1359A>T (p.Gln453His)
n.1572A>T
c.1362A>T (p.Gln454His)
c.1503A>T (n.1503A>T)
c.159A>T (p.Gln53His)
c.1500A>T (p.Gln500His)
c.1011A>T (p.Gln337His)
COSMIC
3g.93884816T>CCA434459028PROS1c.1404A>G (p.Gln468=)
c.1359A>G (p.Gln453=)
n.1572A>G
c.1362A>G (p.Gln454=)
c.1503A>G (n.1503A>G)
c.159A>G (p.Gln53=)
c.1500A>G (p.Gln500=)
c.1011A>G (p.Gln337=)
gnomAD v4 COSMIC
3g.93884816T>GCA353668621PROS1c.1404A>C (p.Gln468His)
c.1359A>C (p.Gln453His)
n.1572A>C
c.1362A>C (p.Gln454His)
c.1503A>C (n.1503A>C)
c.159A>C (p.Gln53His)
c.1500A>C (p.Gln500His)
c.1011A>C (p.Gln337His)
3g.93884817T>ACA353668623PROS1c.1403A>T (p.Gln468Leu)
c.1358A>T (p.Gln453Leu)
n.1571A>T
c.1361A>T (p.Gln454Leu)
c.1502A>T (n.1502A>T)
c.158A>T (p.Gln53Leu)
c.1499A>T (p.Gln500Leu)
c.1010A>T (p.Gln337Leu)
3g.93884817T>CCA353668627PROS1c.1403A>G (p.Gln468Arg)
c.1358A>G (p.Gln453Arg)
n.1571A>G
c.1361A>G (p.Gln454Arg)
c.1502A>G (n.1502A>G)
c.158A>G (p.Gln53Arg)
c.1499A>G (p.Gln500Arg)
c.1010A>G (p.Gln337Arg)
3g.93884817T>GCA353668628PROS1c.1403A>C (p.Gln468Pro)
c.1358A>C (p.Gln453Pro)
n.1571A>C
c.1361A>C (p.Gln454Pro)
c.1502A>C (n.1502A>C)
c.158A>C (p.Gln53Pro)
c.1499A>C (p.Gln500Pro)
c.1010A>C (p.Gln337Pro)
3g.93884818G>ACA353668634PROS1c.1402C>T (p.Gln468Ter)
c.1357C>T (p.Gln453Ter)
n.1570C>T
c.1360C>T (p.Gln454Ter)
c.1501C>T (n.1501C>T)
c.157C>T (p.Gln53Ter)
c.1498C>T (p.Gln500Ter)
c.1009C>T (p.Gln337Ter)
3g.93884818G>CCA353668629PROS1c.1402C>G (p.Gln468Glu)
c.1357C>G (p.Gln453Glu)
n.1570C>G
c.1360C>G (p.Gln454Glu)
c.1501C>G (n.1501C>G)
c.157C>G (p.Gln53Glu)
c.1498C>G (p.Gln500Glu)
c.1009C>G (p.Gln337Glu)
dbSNP gnomAD v2 gnomAD v4
3g.93884818G=CA1385033077PROS1c.1402C= (p.Gln468=)
c.1357C= (p.Gln453=)
n.1570C=
c.1360C= (p.Gln454=)
c.1501C= (n.1501C=)
c.157C= (p.Gln53=)
c.1498C= (p.Gln500=)
c.1009C= (p.Gln337=)
3g.93884818G>TCA353668632PROS1c.1402C>A (p.Gln468Lys)
c.1357C>A (p.Gln453Lys)
n.1570C>A
c.1360C>A (p.Gln454Lys)
c.1501C>A (n.1501C>A)
c.157C>A (p.Gln53Lys)
c.1498C>A (p.Gln500Lys)
c.1009C>A (p.Gln337Lys)
3g.93884819A>CCA353668635PROS1c.1401T>G (p.Ile467Met)
c.1356T>G (p.Ile452Met)
n.1569T>G
c.1359T>G (p.Ile453Met)
c.1500T>G (n.1500T>G)
c.156T>G (p.Ile52Met)
c.1497T>G (p.Ile499Met)
c.1008T>G (p.Ile336Met)
3g.93884819A>GCA434459030PROS1c.1401T>C (p.Ile467=)
c.1356T>C (p.Ile452=)
n.1569T>C
c.1359T>C (p.Ile453=)
c.1500T>C (n.1500T>C)
c.156T>C (p.Ile52=)
c.1497T>C (p.Ile499=)
c.1008T>C (p.Ile336=)
3g.93884819A>TCA434459031PROS1c.1401T>A (p.Ile467=)
c.1356T>A (p.Ile452=)
n.1569T>A
c.1359T>A (p.Ile453=)
c.1500T>A (n.1500T>A)
c.156T>A (p.Ile52=)
c.1497T>A (p.Ile499=)
c.1008T>A (p.Ile336=)
3g.93884820A>CCA353668636PROS1c.1400T>G (p.Ile467Ser)
c.1355T>G (p.Ile452Ser)
n.1568T>G
c.1358T>G (p.Ile453Ser)
c.1499T>G (n.1499T>G)
c.155T>G (p.Ile52Ser)
c.1496T>G (p.Ile499Ser)
c.1007T>G (p.Ile336Ser)
3g.93884820A>GCA353668637PROS1c.1400T>C (p.Ile467Thr)
c.1355T>C (p.Ile452Thr)
n.1568T>C
c.1358T>C (p.Ile453Thr)
c.1499T>C (n.1499T>C)
c.155T>C (p.Ile52Thr)
c.1496T>C (p.Ile499Thr)
c.1007T>C (p.Ile336Thr)
3g.93884820A>TCA353668638PROS1c.1400T>A (p.Ile467Asn)
c.1355T>A (p.Ile452Asn)
n.1568T>A
c.1358T>A (p.Ile453Asn)
c.1499T>A (n.1499T>A)
c.155T>A (p.Ile52Asn)
c.1496T>A (p.Ile499Asn)
c.1007T>A (p.Ile336Asn)
3g.93884821T>ACA353668639PROS1c.1399A>T (p.Ile467Phe)
c.1354A>T (p.Ile452Phe)
n.1567A>T
c.1357A>T (p.Ile453Phe)
c.1498A>T (n.1498A>T)
c.154A>T (p.Ile52Phe)
c.1495A>T (p.Ile499Phe)
c.1006A>T (p.Ile336Phe)
3g.93884821T>CCA353668640PROS1c.1399A>G (p.Ile467Val)
c.1354A>G (p.Ile452Val)
n.1567A>G
c.1357A>G (p.Ile453Val)
c.1498A>G (n.1498A>G)
c.154A>G (p.Ile52Val)
c.1495A>G (p.Ile499Val)
c.1006A>G (p.Ile336Val)
3g.93884821T>GCA353668641PROS1c.1399A>C (p.Ile467Leu)
c.1354A>C (p.Ile452Leu)
n.1567A>C
c.1357A>C (p.Ile453Leu)
c.1498A>C (n.1498A>C)
c.154A>C (p.Ile52Leu)
c.1495A>C (p.Ile499Leu)
c.1006A>C (p.Ile336Leu)
3g.93884822A=CA1385033078PROS1c.1398T= (p.Ile466=)
c.1353T= (p.Ile451=)
n.1566T=
c.1356T= (p.Ile452=)
c.1497T= (n.1497T=)
c.153T= (p.Ile51=)
c.1494T= (p.Ile498=)
c.1005T= (p.Ile335=)
3g.93884822A>CCA353668642PROS1c.1398T>G (p.Ile466Met)
c.1353T>G (p.Ile451Met)
n.1566T>G
c.1356T>G (p.Ile452Met)
c.1497T>G (n.1497T>G)
c.153T>G (p.Ile51Met)
c.1494T>G (p.Ile498Met)
c.1005T>G (p.Ile335Met)
3g.93884822A>GCA434459032PROS1c.1398T>C (p.Ile466=)
c.1353T>C (p.Ile451=)
n.1566T>C
c.1356T>C (p.Ile452=)
c.1497T>C (n.1497T>C)
c.153T>C (p.Ile51=)
c.1494T>C (p.Ile498=)
c.1005T>C (p.Ile335=)
ClinVar dbSNP gnomAD v4
3g.93884822A>TCA434459033PROS1c.1398T>A (p.Ile466=)
c.1353T>A (p.Ile451=)
n.1566T>A
c.1356T>A (p.Ile452=)
c.1497T>A (n.1497T>A)
c.153T>A (p.Ile51=)
c.1494T>A (p.Ile498=)
c.1005T>A (p.Ile335=)
3g.93884823A>CCA353668643PROS1c.1397T>G (p.Ile466Ser)
c.1352T>G (p.Ile451Ser)
n.1565T>G
c.1355T>G (p.Ile452Ser)
c.1496T>G (n.1496T>G)
c.152T>G (p.Ile51Ser)
c.1493T>G (p.Ile498Ser)
c.1004T>G (p.Ile335Ser)
3g.93884823A>GCA353668644PROS1c.1397T>C (p.Ile466Thr)
c.1352T>C (p.Ile451Thr)
n.1565T>C
c.1355T>C (p.Ile452Thr)
c.1496T>C (n.1496T>C)
c.152T>C (p.Ile51Thr)
c.1493T>C (p.Ile498Thr)
c.1004T>C (p.Ile335Thr)
3g.93884823A>TCA353668645PROS1c.1397T>A (p.Ile466Asn)
c.1352T>A (p.Ile451Asn)
n.1565T>A
c.1355T>A (p.Ile452Asn)
c.1496T>A (n.1496T>A)
c.152T>A (p.Ile51Asn)
c.1493T>A (p.Ile498Asn)
c.1004T>A (p.Ile335Asn)
3g.93884824T>ACA353668647PROS1c.1396A>T (p.Ile466Phe)
c.1351A>T (p.Ile451Phe)
n.1564A>T
c.1354A>T (p.Ile452Phe)
c.1495A>T (n.1495A>T)
c.151A>T (p.Ile51Phe)
c.1492A>T (p.Ile498Phe)
c.1003A>T (p.Ile335Phe)
3g.93884824T>CCA353668648PROS1c.1396A>G (p.Ile466Val)
c.1351A>G (p.Ile451Val)
n.1564A>G
c.1354A>G (p.Ile452Val)
c.1495A>G (n.1495A>G)
c.151A>G (p.Ile51Val)
c.1492A>G (p.Ile498Val)
c.1003A>G (p.Ile335Val)
3g.93884824T>GCA353668646PROS1c.1396A>C (p.Ile466Leu)
c.1351A>C (p.Ile451Leu)
n.1564A>C
c.1354A>C (p.Ile452Leu)
c.1495A>C (n.1495A>C)
c.151A>C (p.Ile51Leu)
c.1492A>C (p.Ile498Leu)
c.1003A>C (p.Ile335Leu)
3g.93884826_93884831delCA2586972601PROS1c.1391_1396del (p.Lys464_Glu465del)
c.1346_1351del (p.Lys449_Glu450del)
n.1559_1564del
c.1349_1354del (p.Lys450_Glu451del)
c.1490_1495del (n.1490_1495del)
c.146_151del (p.Lys49_Glu50del)
c.1487_1492del (p.Lys496_Glu497del)
c.998_1003del (p.Lys333_Glu334del)
3g.93884825T>ACA353668649PROS1c.1395A>T (p.Glu465Asp)
c.1350A>T (p.Glu450Asp)
n.1563A>T
c.1353A>T (p.Glu451Asp)
c.1494A>T (n.1494A>T)
c.150A>T (p.Glu50Asp)
c.1491A>T (p.Glu497Asp)
c.1002A>T (p.Glu334Asp)
3g.93884825T>CCA434459034PROS1c.1395A>G (p.Glu465=)
c.1350A>G (p.Glu450=)
n.1563A>G
c.1353A>G (p.Glu451=)
c.1494A>G (n.1494A>G)
c.150A>G (p.Glu50=)
c.1491A>G (p.Glu497=)
c.1002A>G (p.Glu334=)
3g.93884825T>GCA353668650PROS1c.1395A>C (p.Glu465Asp)
c.1350A>C (p.Glu450Asp)
n.1563A>C
c.1353A>C (p.Glu451Asp)
c.1494A>C (n.1494A>C)
c.150A>C (p.Glu50Asp)
c.1491A>C (p.Glu497Asp)
c.1002A>C (p.Glu334Asp)
3g.93884826T>ACA353668651PROS1c.1394A>T (p.Glu465Val)
c.1349A>T (p.Glu450Val)
n.1562A>T
c.1352A>T (p.Glu451Val)
c.1493A>T (n.1493A>T)
c.149A>T (p.Glu50Val)
c.1490A>T (p.Glu497Val)
c.1001A>T (p.Glu334Val)
3g.93884826T>CCA353668652PROS1c.1394A>G (p.Glu465Gly)
c.1349A>G (p.Glu450Gly)
n.1562A>G
c.1352A>G (p.Glu451Gly)
c.1493A>G (n.1493A>G)
c.149A>G (p.Glu50Gly)
c.1490A>G (p.Glu497Gly)
c.1001A>G (p.Glu334Gly)
3g.93884826T>GCA353668653PROS1c.1394A>C (p.Glu465Ala)
c.1349A>C (p.Glu450Ala)
n.1562A>C
c.1352A>C (p.Glu451Ala)
c.1493A>C (n.1493A>C)
c.149A>C (p.Glu50Ala)
c.1490A>C (p.Glu497Ala)
c.1001A>C (p.Glu334Ala)
3g.93884827C>ACA78477924PROS1c.1393G>T (p.Glu465Ter)
c.1348G>T (p.Glu450Ter)
n.1561G>T
c.1351G>T (p.Glu451Ter)
c.1492G>T (n.1492G>T)
c.148G>T (p.Glu50Ter)
c.1489G>T (p.Glu497Ter)
c.1000G>T (p.Glu334Ter)
dbSNP
3g.93884827C=CA1385033079PROS1c.1393G= (p.Glu465=)
c.1348G= (p.Glu450=)
n.1561G=
c.1351G= (p.Glu451=)
c.1492G= (n.1492G=)
c.148G= (p.Glu50=)
c.1489G= (p.Glu497=)
c.1000G= (p.Glu334=)
3g.93884827C>GCA353668654PROS1c.1393G>C (p.Glu465Gln)
c.1348G>C (p.Glu450Gln)
n.1561G>C
c.1351G>C (p.Glu451Gln)
c.1492G>C (n.1492G>C)
c.148G>C (p.Glu50Gln)
c.1489G>C (p.Glu497Gln)
c.1000G>C (p.Glu334Gln)
3g.93884827C>TCA2503198PROS1c.1393G>A (p.Glu465Lys)
c.1348G>A (p.Glu450Lys)
n.1561G>A
c.1351G>A (p.Glu451Lys)
c.1492G>A (n.1492G>A)
c.148G>A (p.Glu50Lys)
c.1489G>A (p.Glu497Lys)
c.1000G>A (p.Glu334Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884828C>ACA353668655PROS1c.1392G>T (p.Lys464Asn)
c.1347G>T (p.Lys449Asn)
n.1560G>T
c.1350G>T (p.Lys450Asn)
c.1491G>T (n.1491G>T)
c.147G>T (p.Lys49Asn)
c.1488G>T (p.Lys496Asn)
c.999G>T (p.Lys333Asn)
3g.93884828C>GCA353668658PROS1c.1392G>C (p.Lys464Asn)
c.1347G>C (p.Lys449Asn)
n.1560G>C
c.1350G>C (p.Lys450Asn)
c.1491G>C (n.1491G>C)
c.147G>C (p.Lys49Asn)
c.1488G>C (p.Lys496Asn)
c.999G>C (p.Lys333Asn)
3g.93884828C>TCA434459037PROS1c.1392G>A (p.Lys464=)
c.1347G>A (p.Lys449=)
n.1560G>A
c.1350G>A (p.Lys450=)
c.1491G>A (n.1491G>A)
c.147G>A (p.Lys49=)
c.1488G>A (p.Lys496=)
c.999G>A (p.Lys333=)
3g.93884829T>ACA353668660PROS1c.1391A>T (p.Lys464Met)
c.1346A>T (p.Lys449Met)
n.1559A>T
c.1349A>T (p.Lys450Met)
c.1490A>T (n.1490A>T)
c.146A>T (p.Lys49Met)
c.1487A>T (p.Lys496Met)
c.998A>T (p.Lys333Met)
3g.93884829T>CCA353668663PROS1c.1391A>G (p.Lys464Arg)
c.1346A>G (p.Lys449Arg)
n.1559A>G
c.1349A>G (p.Lys450Arg)
c.1490A>G (n.1490A>G)
c.146A>G (p.Lys49Arg)
c.1487A>G (p.Lys496Arg)
c.998A>G (p.Lys333Arg)
dbSNP gnomAD v2 gnomAD v4
3g.93884829T>GCA353668664PROS1c.1391A>C (p.Lys464Thr)
c.1346A>C (p.Lys449Thr)
n.1559A>C
c.1349A>C (p.Lys450Thr)
c.1490A>C (n.1490A>C)
c.146A>C (p.Lys49Thr)
c.1487A>C (p.Lys496Thr)
c.998A>C (p.Lys333Thr)
3g.93884829T=CA1385033080PROS1c.1391A= (p.Lys464=)
c.1346A= (p.Lys449=)
n.1559A=
c.1349A= (p.Lys450=)
c.1490A= (n.1490A=)
c.146A= (p.Lys49=)
c.1487A= (p.Lys496=)
c.998A= (p.Lys333=)
3g.93884830T>ACA353668667PROS1c.1390A>T (p.Lys464Ter)
c.1345A>T (p.Lys449Ter)
n.1558A>T
c.1348A>T (p.Lys450Ter)
c.1489A>T (n.1489A>T)
c.145A>T (p.Lys49Ter)
c.1486A>T (p.Lys496Ter)
c.997A>T (p.Lys333Ter)
3g.93884830T>CCA353668666PROS1c.1390A>G (p.Lys464Glu)
c.1345A>G (p.Lys449Glu)
n.1558A>G
c.1348A>G (p.Lys450Glu)
c.1489A>G (n.1489A>G)
c.145A>G (p.Lys49Glu)
c.1486A>G (p.Lys496Glu)
c.997A>G (p.Lys333Glu)
gnomAD v4
3g.93884830T>GCA353668665PROS1c.1390A>C (p.Lys464Gln)
c.1345A>C (p.Lys449Gln)
n.1558A>C
c.1348A>C (p.Lys450Gln)
c.1489A>C (n.1489A>C)
c.145A>C (p.Lys49Gln)
c.1486A>C (p.Lys496Gln)
c.997A>C (p.Lys333Gln)
3g.93884831T>ACA434459039PROS1c.1389A>T (p.Ile463=)
c.1344A>T (p.Ile448=)
n.1557A>T
c.1347A>T (p.Ile449=)
c.1488A>T (n.1488A>T)
c.144A>T (p.Ile48=)
c.1485A>T (p.Ile495=)
c.996A>T (p.Ile332=)
3g.93884831T>CCA353668669PROS1c.1389A>G (p.Ile463Met)
c.1344A>G (p.Ile448Met)
n.1557A>G
c.1347A>G (p.Ile449Met)
c.1488A>G (n.1488A>G)
c.144A>G (p.Ile48Met)
c.1485A>G (p.Ile495Met)
c.996A>G (p.Ile332Met)
3g.93884831T>GCA434459038PROS1c.1389A>C (p.Ile463=)
c.1344A>C (p.Ile448=)
n.1557A>C
c.1347A>C (p.Ile449=)
c.1488A>C (n.1488A>C)
c.144A>C (p.Ile48=)
c.1485A>C (p.Ile495=)
c.996A>C (p.Ile332=)
3g.93884832A>CCA353668676PROS1c.1388T>G (p.Ile463Arg)
c.1343T>G (p.Ile448Arg)
n.1556T>G
c.1346T>G (p.Ile449Arg)
c.1487T>G (n.1487T>G)
c.143T>G (p.Ile48Arg)
c.1484T>G (p.Ile495Arg)
c.995T>G (p.Ile332Arg)
3g.93884832A>GCA353668677PROS1c.1388T>C (p.Ile463Thr)
c.1343T>C (p.Ile448Thr)
n.1556T>C
c.1346T>C (p.Ile449Thr)
c.1487T>C (n.1487T>C)
c.143T>C (p.Ile48Thr)
c.1484T>C (p.Ile495Thr)
c.995T>C (p.Ile332Thr)
3g.93884832A>TCA353668678PROS1c.1388T>A (p.Ile463Lys)
c.1343T>A (p.Ile448Lys)
n.1556T>A
c.1346T>A (p.Ile449Lys)
c.1487T>A (n.1487T>A)
c.143T>A (p.Ile48Lys)
c.1484T>A (p.Ile495Lys)
c.995T>A (p.Ile332Lys)
3g.93884833T>ACA353668679PROS1c.1387A>T (p.Ile463Leu)
c.1342A>T (p.Ile448Leu)
n.1555A>T
c.1345A>T (p.Ile449Leu)
c.1486A>T (n.1486A>T)
c.142A>T (p.Ile48Leu)
c.1483A>T (p.Ile495Leu)
c.994A>T (p.Ile332Leu)
3g.93884833T>CCA353668680PROS1c.1387A>G (p.Ile463Val)
c.1342A>G (p.Ile448Val)
n.1555A>G
c.1345A>G (p.Ile449Val)
c.1486A>G (n.1486A>G)
c.142A>G (p.Ile48Val)
c.1483A>G (p.Ile495Val)
c.994A>G (p.Ile332Val)
3g.93884833T>GCA353668682PROS1c.1387A>C (p.Ile463Leu)
c.1342A>C (p.Ile448Leu)
n.1555A>C
c.1345A>C (p.Ile449Leu)
c.1486A>C (n.1486A>C)
c.142A>C (p.Ile48Leu)
c.1483A>C (p.Ile495Leu)
c.994A>C (p.Ile332Leu)
3g.93884834T>ACA434459042PROS1c.1386A>T (p.Gly462=)
c.1341A>T (p.Gly447=)
n.1554A>T
c.1344A>T (p.Gly448=)
c.1485A>T (n.1485A>T)
c.141A>T (p.Gly47=)
c.1482A>T (p.Gly494=)
c.993A>T (p.Gly331=)
3g.93884834T>CCA434459041PROS1c.1386A>G (p.Gly462=)
c.1341A>G (p.Gly447=)
n.1554A>G
c.1344A>G (p.Gly448=)
c.1485A>G (n.1485A>G)
c.141A>G (p.Gly47=)
c.1482A>G (p.Gly494=)
c.993A>G (p.Gly331=)
3g.93884834T>GCA434459040PROS1c.1386A>C (p.Gly462=)
c.1341A>C (p.Gly447=)
n.1554A>C
c.1344A>C (p.Gly448=)
c.1485A>C (n.1485A>C)
c.141A>C (p.Gly47=)
c.1482A>C (p.Gly494=)
c.993A>C (p.Gly331=)
gnomAD v4
3g.93884835C>ACA353668683PROS1c.1385G>T (p.Gly462Val)
c.1340G>T (p.Gly447Val)
n.1553G>T
c.1343G>T (p.Gly448Val)
c.1484G>T (n.1484G>T)
c.140G>T (p.Gly47Val)
c.1481G>T (p.Gly494Val)
c.992G>T (p.Gly331Val)
3g.93884835C>GCA353668685PROS1c.1385G>C (p.Gly462Ala)
c.1340G>C (p.Gly447Ala)
n.1553G>C
c.1343G>C (p.Gly448Ala)
c.1484G>C (n.1484G>C)
c.140G>C (p.Gly47Ala)
c.1481G>C (p.Gly494Ala)
c.992G>C (p.Gly331Ala)
3g.93884835C>TCA353668686PROS1c.1385G>A (p.Gly462Glu)
c.1340G>A (p.Gly447Glu)
n.1553G>A
c.1343G>A (p.Gly448Glu)
c.1484G>A (n.1484G>A)
c.140G>A (p.Gly47Glu)
c.1481G>A (p.Gly494Glu)
c.992G>A (p.Gly331Glu)
gnomAD v4
3g.93884836C>ACA353668688PROS1c.1384G>T (p.Gly462Ter)
c.1339G>T (p.Gly447Ter)
n.1552G>T
c.1342G>T (p.Gly448Ter)
c.1483G>T (n.1483G>T)
c.139G>T (p.Gly47Ter)
c.1480G>T (p.Gly494Ter)
c.991G>T (p.Gly331Ter)
3g.93884836C=CA1385033081PROS1c.1384G= (p.Gly462=)
c.1339G= (p.Gly447=)
n.1552G=
c.1342G= (p.Gly448=)
c.1483G= (n.1483G=)
c.139G= (p.Gly47=)
c.1480G= (p.Gly494=)
c.991G= (p.Gly331=)
3g.93884836C>GCA353668690PROS1c.1384G>C (p.Gly462Arg)
c.1339G>C (p.Gly447Arg)
n.1552G>C
c.1342G>C (p.Gly448Arg)
c.1483G>C (n.1483G>C)
c.139G>C (p.Gly47Arg)
c.1480G>C (p.Gly494Arg)
c.991G>C (p.Gly331Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884836C>TCA353668695PROS1c.1384G>A (p.Gly462Arg)
c.1339G>A (p.Gly447Arg)
n.1552G>A
c.1342G>A (p.Gly448Arg)
c.1483G>A (n.1483G>A)
c.139G>A (p.Gly47Arg)
c.1480G>A (p.Gly494Arg)
c.991G>A (p.Gly331Arg)
3g.93884837A=CA1385033082PROS1c.1383T= (p.Ser461=)
c.1338T= (p.Ser446=)
n.1551T=
c.1341T= (p.Ser447=)
c.1482T= (n.1482T=)
c.138T= (p.Ser46=)
c.1479T= (p.Ser493=)
c.990T= (p.Ser330=)
3g.93884837A>CCA434459043PROS1c.1383T>G (p.Ser461=)
c.1338T>G (p.Ser446=)
n.1551T>G
c.1341T>G (p.Ser447=)
c.1482T>G (n.1482T>G)
c.138T>G (p.Ser46=)
c.1479T>G (p.Ser493=)
c.990T>G (p.Ser330=)
3g.93884837A>GCA434459045PROS1c.1383T>C (p.Ser461=)
c.1338T>C (p.Ser446=)
n.1551T>C
c.1341T>C (p.Ser447=)
c.1482T>C (n.1482T>C)
c.138T>C (p.Ser46=)
c.1479T>C (p.Ser493=)
c.990T>C (p.Ser330=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884837A>TCA434459044PROS1c.1383T>A (p.Ser461=)
c.1338T>A (p.Ser446=)
n.1551T>A
c.1341T>A (p.Ser447=)
c.1482T>A (n.1482T>A)
c.138T>A (p.Ser46=)
c.1479T>A (p.Ser493=)
c.990T>A (p.Ser330=)
3g.93884838G>ACA353668699PROS1c.1382C>T (p.Ser461Phe)
c.1337C>T (p.Ser446Phe)
n.1550C>T
c.1340C>T (p.Ser447Phe)
c.1481C>T (n.1481C>T)
c.137C>T (p.Ser46Phe)
c.1478C>T (p.Ser493Phe)
c.989C>T (p.Ser330Phe)
3g.93884838G>CCA353668701PROS1c.1382C>G (p.Ser461Cys)
c.1337C>G (p.Ser446Cys)
n.1550C>G
c.1340C>G (p.Ser447Cys)
c.1481C>G (n.1481C>G)
c.137C>G (p.Ser46Cys)
c.1478C>G (p.Ser493Cys)
c.989C>G (p.Ser330Cys)
3g.93884838G>TCA353668698PROS1c.1382C>A (p.Ser461Tyr)
c.1337C>A (p.Ser446Tyr)
n.1550C>A
c.1340C>A (p.Ser447Tyr)
c.1481C>A (n.1481C>A)
c.137C>A (p.Ser46Tyr)
c.1478C>A (p.Ser493Tyr)
c.989C>A (p.Ser330Tyr)
3g.93884839A>CCA353668709PROS1c.1381T>G (p.Ser461Ala)
c.1336T>G (p.Ser446Ala)
n.1549T>G
c.1339T>G (p.Ser447Ala)
c.1480T>G (n.1480T>G)
c.136T>G (p.Ser46Ala)
c.1477T>G (p.Ser493Ala)
c.988T>G (p.Ser330Ala)
3g.93884839A>GCA353668703PROS1c.1381T>C (p.Ser461Pro)
c.1336T>C (p.Ser446Pro)
n.1549T>C
c.1339T>C (p.Ser447Pro)
c.1480T>C (n.1480T>C)
c.136T>C (p.Ser46Pro)
c.1477T>C (p.Ser493Pro)
c.988T>C (p.Ser330Pro)
gnomAD v4
3g.93884839A>TCA353668708PROS1c.1381T>A (p.Ser461Thr)
c.1336T>A (p.Ser446Thr)
n.1549T>A
c.1339T>A (p.Ser447Thr)
c.1480T>A (n.1480T>A)
c.136T>A (p.Ser46Thr)
c.1477T>A (p.Ser493Thr)
c.988T>A (p.Ser330Thr)
3g.93884840A>CCA434459046PROS1c.1380T>G (p.Ala460=)
c.1335T>G (p.Ala445=)
n.1548T>G
c.1338T>G (p.Ala446=)
c.1479T>G (n.1479T>G)
c.135T>G (p.Ala45=)
c.1476T>G (p.Ala492=)
c.987T>G (p.Ala329=)
3g.93884840A>GCA434459047PROS1c.1380T>C (p.Ala460=)
c.1335T>C (p.Ala445=)
n.1548T>C
c.1338T>C (p.Ala446=)
c.1479T>C (n.1479T>C)
c.135T>C (p.Ala45=)
c.1476T>C (p.Ala492=)
c.987T>C (p.Ala329=)
3g.93884840A>TCA434459048PROS1c.1380T>A (p.Ala460=)
c.1335T>A (p.Ala445=)
n.1548T>A
c.1338T>A (p.Ala446=)
c.1479T>A (n.1479T>A)
c.135T>A (p.Ala45=)
c.1476T>A (p.Ala492=)
c.987T>A (p.Ala329=)
3g.93884841G>ACA353668710PROS1c.1379C>T (p.Ala460Val)
c.1334C>T (p.Ala445Val)
n.1547C>T
c.1337C>T (p.Ala446Val)
c.1478C>T (n.1478C>T)
c.134C>T (p.Ala45Val)
c.1475C>T (p.Ala492Val)
c.986C>T (p.Ala329Val)
dbSNP gnomAD v2 gnomAD v4
3g.93884841G>CCA353668712PROS1c.1379C>G (p.Ala460Gly)
c.1334C>G (p.Ala445Gly)
n.1547C>G
c.1337C>G (p.Ala446Gly)
c.1478C>G (n.1478C>G)
c.134C>G (p.Ala45Gly)
c.1475C>G (p.Ala492Gly)
c.986C>G (p.Ala329Gly)
3g.93884841G=CA1385033083PROS1c.1379C= (p.Ala460=)
c.1334C= (p.Ala445=)
n.1547C=
c.1337C= (p.Ala446=)
c.1478C= (n.1478C=)
c.134C= (p.Ala45=)
c.1475C= (p.Ala492=)
c.986C= (p.Ala329=)
3g.93884841G>TCA353668714PROS1c.1379C>A (p.Ala460Asp)
c.1334C>A (p.Ala445Asp)
n.1547C>A
c.1337C>A (p.Ala446Asp)
c.1478C>A (n.1478C>A)
c.134C>A (p.Ala45Asp)
c.1475C>A (p.Ala492Asp)
c.986C>A (p.Ala329Asp)
3g.93884842C>ACA353668716PROS1c.1378G>T (p.Ala460Ser)
c.1333G>T (p.Ala445Ser)
n.1546G>T
c.1336G>T (p.Ala446Ser)
c.1477G>T (n.1477G>T)
c.133G>T (p.Ala45Ser)
c.1474G>T (p.Ala492Ser)
c.985G>T (p.Ala329Ser)
3g.93884842C=CA1385033084PROS1c.1378G= (p.Ala460=)
c.1333G= (p.Ala445=)
n.1546G=
c.1336G= (p.Ala446=)
c.1477G= (n.1477G=)
c.133G= (p.Ala45=)
c.1474G= (p.Ala492=)
c.985G= (p.Ala329=)
3g.93884842C>GCA353668718PROS1c.1378G>C (p.Ala460Pro)
c.1333G>C (p.Ala445Pro)
n.1546G>C
c.1336G>C (p.Ala446Pro)
c.1477G>C (n.1477G>C)
c.133G>C (p.Ala45Pro)
c.1474G>C (p.Ala492Pro)
c.985G>C (p.Ala329Pro)
3g.93884842C>TCA353668720PROS1c.1378G>A (p.Ala460Thr)
c.1333G>A (p.Ala445Thr)
n.1546G>A
c.1336G>A (p.Ala446Thr)
c.1477G>A (n.1477G>A)
c.133G>A (p.Ala45Thr)
c.1474G>A (p.Ala492Thr)
c.985G>A (p.Ala329Thr)
dbSNP gnomAD v2 gnomAD v4
3g.93884843T>ACA434459049PROS1c.1377A>T (p.Gly459=)
c.1332A>T (p.Gly444=)
n.1545A>T
c.1335A>T (p.Gly445=)
c.1476A>T (n.1476A>T)
c.132A>T (p.Gly44=)
c.1473A>T (p.Gly491=)
c.984A>T (p.Gly328=)
3g.93884843T>CCA2503199PROS1c.1377A>G (p.Gly459=)
c.1332A>G (p.Gly444=)
n.1545A>G
c.1335A>G (p.Gly445=)
c.1476A>G (n.1476A>G)
c.132A>G (p.Gly44=)
c.1473A>G (p.Gly491=)
c.984A>G (p.Gly328=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884843T>GCA434459050PROS1c.1377A>C (p.Gly459=)
c.1332A>C (p.Gly444=)
n.1545A>C
c.1335A>C (p.Gly445=)
c.1476A>C (n.1476A>C)
c.132A>C (p.Gly44=)
c.1473A>C (p.Gly491=)
c.984A>C (p.Gly328=)
3g.93884843T=CA1385033085PROS1c.1377A= (p.Gly459=)
c.1332A= (p.Gly444=)
n.1545A=
c.1335A= (p.Gly445=)
c.1476A= (n.1476A=)
c.132A= (p.Gly44=)
c.1473A= (p.Gly491=)
c.984A= (p.Gly328=)
3g.93884844C>ACA353668724PROS1c.1376G>T (p.Gly459Val)
c.1331G>T (p.Gly444Val)
n.1544G>T
c.1334G>T (p.Gly445Val)
c.1475G>T (n.1475G>T)
c.131G>T (p.Gly44Val)
c.1472G>T (p.Gly491Val)
c.983G>T (p.Gly328Val)
3g.93884844C>GCA353668726PROS1c.1376G>C (p.Gly459Ala)
c.1331G>C (p.Gly444Ala)
n.1544G>C
c.1334G>C (p.Gly445Ala)
c.1475G>C (n.1475G>C)
c.131G>C (p.Gly44Ala)
c.1472G>C (p.Gly491Ala)
c.983G>C (p.Gly328Ala)
3g.93884844C>TCA353668728PROS1c.1376G>A (p.Gly459Glu)
c.1331G>A (p.Gly444Glu)
n.1544G>A
c.1334G>A (p.Gly445Glu)
c.1475G>A (n.1475G>A)
c.131G>A (p.Gly44Glu)
c.1472G>A (p.Gly491Glu)
c.983G>A (p.Gly328Glu)
3g.93884845C>ACA353668739PROS1c.1375G>T (p.Gly459Ter)
c.1330G>T (p.Gly444Ter)
n.1543G>T
c.1333G>T (p.Gly445Ter)
c.1474G>T (n.1474G>T)
c.130G>T (p.Gly44Ter)
c.1471G>T (p.Gly491Ter)
c.982G>T (p.Gly328Ter)
COSMIC
3g.93884845C>GCA353668731PROS1c.1375G>C (p.Gly459Arg)
c.1330G>C (p.Gly444Arg)
n.1543G>C
c.1333G>C (p.Gly445Arg)
c.1474G>C (n.1474G>C)
c.130G>C (p.Gly44Arg)
c.1471G>C (p.Gly491Arg)
c.982G>C (p.Gly328Arg)
3g.93884845C>TCA353668730PROS1c.1375G>A (p.Gly459Arg)
c.1330G>A (p.Gly444Arg)
n.1543G>A
c.1333G>A (p.Gly445Arg)
c.1474G>A (n.1474G>A)
c.130G>A (p.Gly44Arg)
c.1471G>A (p.Gly491Arg)
c.982G>A (p.Gly328Arg)
3g.93884846T>ACA353668743PROS1c.1374A>T (p.Gln458His)
c.1329A>T (p.Gln443His)
n.1542A>T
c.1332A>T (p.Gln444His)
c.1473A>T (n.1473A>T)
c.129A>T (p.Gln43His)
c.1470A>T (p.Gln490His)
c.981A>T (p.Gln327His)
3g.93884846T>CCA434459051PROS1c.1374A>G (p.Gln458=)
c.1329A>G (p.Gln443=)
n.1542A>G
c.1332A>G (p.Gln444=)
c.1473A>G (n.1473A>G)
c.129A>G (p.Gln43=)
c.1470A>G (p.Gln490=)
c.981A>G (p.Gln327=)
3g.93884846T>GCA353668746PROS1c.1374A>C (p.Gln458His)
c.1329A>C (p.Gln443His)
n.1542A>C
c.1332A>C (p.Gln444His)
c.1473A>C (n.1473A>C)
c.129A>C (p.Gln43His)
c.1470A>C (p.Gln490His)
c.981A>C (p.Gln327His)
3g.93884847T>ACA353668747PROS1c.1373A>T (p.Gln458Leu)
c.1328A>T (p.Gln443Leu)
n.1541A>T
c.1331A>T (p.Gln444Leu)
c.1472A>T (n.1472A>T)
c.128A>T (p.Gln43Leu)
c.1469A>T (p.Gln490Leu)
c.980A>T (p.Gln327Leu)
3g.93884847T>CCA353668748PROS1c.1373A>G (p.Gln458Arg)
c.1328A>G (p.Gln443Arg)
n.1541A>G
c.1331A>G (p.Gln444Arg)
c.1472A>G (n.1472A>G)
c.128A>G (p.Gln43Arg)
c.1469A>G (p.Gln490Arg)
c.980A>G (p.Gln327Arg)
3g.93884847T>GCA353668749PROS1c.1373A>C (p.Gln458Pro)
c.1328A>C (p.Gln443Pro)
n.1541A>C
c.1331A>C (p.Gln444Pro)
c.1472A>C (n.1472A>C)
c.128A>C (p.Gln43Pro)
c.1469A>C (p.Gln490Pro)
c.980A>C (p.Gln327Pro)
3g.93884848G>ACA353668750PROS1c.1372C>T (p.Gln458Ter)
c.1327C>T (p.Gln443Ter)
n.1540C>T
c.1330C>T (p.Gln444Ter)
c.1471C>T (n.1471C>T)
c.127C>T (p.Gln43Ter)
c.1468C>T (p.Gln490Ter)
c.979C>T (p.Gln327Ter)
3g.93884848G>CCA353668751PROS1c.1372C>G (p.Gln458Glu)
c.1327C>G (p.Gln443Glu)
n.1540C>G
c.1330C>G (p.Gln444Glu)
c.1471C>G (n.1471C>G)
c.127C>G (p.Gln43Glu)
c.1468C>G (p.Gln490Glu)
c.979C>G (p.Gln327Glu)
3g.93884848G=CA1385033086PROS1c.1372C= (p.Gln458=)
c.1327C= (p.Gln443=)
n.1540C=
c.1330C= (p.Gln444=)
c.1471C= (n.1471C=)
c.127C= (p.Gln43=)
c.1468C= (p.Gln490=)
c.979C= (p.Gln327=)
3g.93884848G>TCA353668754PROS1c.1372C>A (p.Gln458Lys)
c.1327C>A (p.Gln443Lys)
n.1540C>A
c.1330C>A (p.Gln444Lys)
c.1471C>A (n.1471C>A)
c.127C>A (p.Gln43Lys)
c.1468C>A (p.Gln490Lys)
c.979C>A (p.Gln327Lys)
ClinVar dbSNP
3g.93884849C>ACA353668757PROS1c.1371G>T (p.Lys457Asn)
c.1326G>T (p.Lys442Asn)
n.1539G>T
c.1329G>T (p.Lys443Asn)
c.1470G>T (n.1470G>T)
c.126G>T (p.Lys42Asn)
c.1467G>T (p.Lys489Asn)
c.978G>T (p.Lys326Asn)
COSMIC
3g.93884849C>GCA353668760PROS1c.1371G>C (p.Lys457Asn)
c.1326G>C (p.Lys442Asn)
n.1539G>C
c.1329G>C (p.Lys443Asn)
c.1470G>C (n.1470G>C)
c.126G>C (p.Lys42Asn)
c.1467G>C (p.Lys489Asn)
c.978G>C (p.Lys326Asn)
3g.93884849C>TCA434459052PROS1c.1371G>A (p.Lys457=)
c.1326G>A (p.Lys442=)
n.1539G>A
c.1329G>A (p.Lys443=)
c.1470G>A (n.1470G>A)
c.126G>A (p.Lys42=)
c.1467G>A (p.Lys489=)
c.978G>A (p.Lys326=)
gnomAD v4
3g.93884850T>ACA353668764PROS1c.1370A>T (p.Lys457Met)
c.1325A>T (p.Lys442Met)
n.1538A>T
c.1328A>T (p.Lys443Met)
c.1469A>T (n.1469A>T)
c.125A>T (p.Lys42Met)
c.1466A>T (p.Lys489Met)
c.977A>T (p.Lys326Met)
3g.93884850T>CCA353668769PROS1c.1370A>G (p.Lys457Arg)
c.1325A>G (p.Lys442Arg)
n.1538A>G
c.1328A>G (p.Lys443Arg)
c.1469A>G (n.1469A>G)
c.125A>G (p.Lys42Arg)
c.1466A>G (p.Lys489Arg)
c.977A>G (p.Lys326Arg)
3g.93884850T>GCA2503200PROS1c.1370A>C (p.Lys457Thr)
c.1325A>C (p.Lys442Thr)
n.1538A>C
c.1328A>C (p.Lys443Thr)
c.1469A>C (n.1469A>C)
c.125A>C (p.Lys42Thr)
c.1466A>C (p.Lys489Thr)
c.977A>C (p.Lys326Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.93884850T=CA1385033087PROS1c.1370A= (p.Lys457=)
c.1325A= (p.Lys442=)
n.1538A=
c.1328A= (p.Lys443=)
c.1469A= (n.1469A=)
c.125A= (p.Lys42=)
c.1466A= (p.Lys489=)
c.977A= (p.Lys326=)
3g.93884851T>ACA353668785PROS1c.1369A>T (p.Lys457Ter)
c.1324A>T (p.Lys442Ter)
n.1537A>T
c.1327A>T (p.Lys443Ter)
c.1468A>T (n.1468A>T)
c.124A>T (p.Lys42Ter)
c.1465A>T (p.Lys489Ter)
c.976A>T (p.Lys326Ter)
3g.93884851T>CCA353668780PROS1c.1369A>G (p.Lys457Glu)
c.1324A>G (p.Lys442Glu)
n.1537A>G
c.1327A>G (p.Lys443Glu)
c.1468A>G (n.1468A>G)
c.124A>G (p.Lys42Glu)
c.1465A>G (p.Lys489Glu)
c.976A>G (p.Lys326Glu)
gnomAD v4
3g.93884851T>GCA353668777PROS1c.1369A>C (p.Lys457Gln)
c.1324A>C (p.Lys442Gln)
n.1537A>C
c.1327A>C (p.Lys443Gln)
c.1468A>C (n.1468A>C)
c.124A>C (p.Lys42Gln)
c.1465A>C (p.Lys489Gln)
c.976A>C (p.Lys326Gln)
3g.93884852C>ACA353668796PROS1c.1368G>T (p.Met456Ile)
c.1323G>T (p.Met441Ile)
n.1536G>T
c.1326G>T (p.Met442Ile)
c.1467G>T (n.1467G>T)
c.123G>T (p.Met41Ile)
c.1464G>T (p.Met488Ile)
c.975G>T (p.Met325Ile)
3g.93884852C>GCA353668790PROS1c.1368G>C (p.Met456Ile)
c.1323G>C (p.Met441Ile)
n.1536G>C
c.1326G>C (p.Met442Ile)
c.1467G>C (n.1467G>C)
c.123G>C (p.Met41Ile)
c.1464G>C (p.Met488Ile)
c.975G>C (p.Met325Ile)
3g.93884852C>TCA353668794PROS1c.1368G>A (p.Met456Ile)
c.1323G>A (p.Met441Ile)
n.1536G>A
c.1326G>A (p.Met442Ile)
c.1467G>A (n.1467G>A)
c.123G>A (p.Met41Ile)
c.1464G>A (p.Met488Ile)
c.975G>A (p.Met325Ile)
3g.93884853A>CCA353668799PROS1c.1367T>G (p.Met456Arg)
c.1322T>G (p.Met441Arg)
n.1535T>G
c.1325T>G (p.Met442Arg)
c.1466T>G (n.1466T>G)
c.122T>G (p.Met41Arg)
c.1463T>G (p.Met488Arg)
c.974T>G (p.Met325Arg)
3g.93884853A>GCA353668803PROS1c.1367T>C (p.Met456Thr)
c.1322T>C (p.Met441Thr)
n.1535T>C
c.1325T>C (p.Met442Thr)
c.1466T>C (n.1466T>C)
c.122T>C (p.Met41Thr)
c.1463T>C (p.Met488Thr)
c.974T>C (p.Met325Thr)
gnomAD v4
3g.93884853A>TCA353668806PROS1c.1367T>A (p.Met456Lys)
c.1322T>A (p.Met441Lys)
n.1535T>A
c.1325T>A (p.Met442Lys)
c.1466T>A (n.1466T>A)
c.122T>A (p.Met41Lys)
c.1463T>A (p.Met488Lys)
c.974T>A (p.Met325Lys)
3g.93884854T>ACA353668810PROS1c.1366A>T (p.Met456Leu)
c.1321A>T (p.Met441Leu)
n.1534A>T
c.1324A>T (p.Met442Leu)
c.1465A>T (n.1465A>T)
c.121A>T (p.Met41Leu)
c.1462A>T (p.Met488Leu)
c.973A>T (p.Met325Leu)
3g.93884854T>CCA353668815PROS1c.1366A>G (p.Met456Val)
c.1321A>G (p.Met441Val)
n.1534A>G
c.1324A>G (p.Met442Val)
c.1465A>G (n.1465A>G)
c.121A>G (p.Met41Val)
c.1462A>G (p.Met488Val)
c.973A>G (p.Met325Val)
gnomAD v4
3g.93884854T>GCA353668818PROS1c.1366A>C (p.Met456Leu)
c.1321A>C (p.Met441Leu)
n.1534A>C
c.1324A>C (p.Met442Leu)
c.1465A>C (n.1465A>C)
c.121A>C (p.Met41Leu)
c.1462A>C (p.Met488Leu)
c.973A>C (p.Met325Leu)
3g.93884855C>ACA353668822PROS1c.1365G>T (p.Leu455Phe)
c.1320G>T (p.Leu440Phe)
n.1533G>T
c.1323G>T (p.Leu441Phe)
c.1464G>T (n.1464G>T)
c.120G>T (p.Leu40Phe)
c.1461G>T (p.Leu487Phe)
c.972G>T (p.Leu324Phe)
3g.93884855C>GCA353668824PROS1c.1365G>C (p.Leu455Phe)
c.1320G>C (p.Leu440Phe)
n.1533G>C
c.1323G>C (p.Leu441Phe)
c.1464G>C (n.1464G>C)
c.120G>C (p.Leu40Phe)
c.1461G>C (p.Leu487Phe)
c.972G>C (p.Leu324Phe)
3g.93884855C>TCA434459053PROS1c.1365G>A (p.Leu455=)
c.1320G>A (p.Leu440=)
n.1533G>A
c.1323G>A (p.Leu441=)
c.1464G>A (n.1464G>A)
c.120G>A (p.Leu40=)
c.1461G>A (p.Leu487=)
c.972G>A (p.Leu324=)
3g.93884856A>CCA353668829PROS1c.1364T>G (p.Leu455Trp)
c.1319T>G (p.Leu440Trp)
n.1532T>G
c.1322T>G (p.Leu441Trp)
c.1463T>G (n.1463T>G)
c.119T>G (p.Leu40Trp)
c.1460T>G (p.Leu487Trp)
c.971T>G (p.Leu324Trp)
COSMIC
3g.93884856A>GCA353668833PROS1c.1364T>C (p.Leu455Ser)
c.1319T>C (p.Leu440Ser)
n.1532T>C
c.1322T>C (p.Leu441Ser)
c.1463T>C (n.1463T>C)
c.119T>C (p.Leu40Ser)
c.1460T>C (p.Leu487Ser)
c.971T>C (p.Leu324Ser)
gnomAD v4
3g.93884856A>TCA353668835PROS1c.1364T>A (p.Leu455Ter)
c.1319T>A (p.Leu440Ter)
n.1532T>A
c.1322T>A (p.Leu441Ter)
c.1463T>A (n.1463T>A)
c.119T>A (p.Leu40Ter)
c.1460T>A (p.Leu487Ter)
c.971T>A (p.Leu324Ter)
3g.93884857A=CA1385033088PROS1c.1363T= (p.Leu455=)
c.1318T= (p.Leu440=)
n.1531T=
c.1321T= (p.Leu441=)
c.1462T= (n.1462T=)
c.118T= (p.Leu40=)
c.1459T= (p.Leu487=)
c.970T= (p.Leu324=)
3g.93884857A>CCA353668838PROS1c.1363T>G (p.Leu455Val)
c.1318T>G (p.Leu440Val)
n.1531T>G
c.1321T>G (p.Leu441Val)
c.1462T>G (n.1462T>G)
c.118T>G (p.Leu40Val)
c.1459T>G (p.Leu487Val)
c.970T>G (p.Leu324Val)
dbSNP gnomAD v2 gnomAD v4
3g.93884857A>GCA434459054PROS1c.1363T>C (p.Leu455=)
c.1318T>C (p.Leu440=)
n.1531T>C
c.1321T>C (p.Leu441=)
c.1462T>C (n.1462T>C)
c.118T>C (p.Leu40=)
c.1459T>C (p.Leu487=)
c.970T>C (p.Leu324=)
3g.93884857A>TCA353668837PROS1c.1363T>A (p.Leu455Met)
c.1318T>A (p.Leu440Met)
n.1531T>A
c.1321T>A (p.Leu441Met)
c.1462T>A (n.1462T>A)
c.118T>A (p.Leu40Met)
c.1459T>A (p.Leu487Met)
c.970T>A (p.Leu324Met)
3g.93884858A>CCA353668841PROS1c.1362T>G (p.Asn454Lys)
c.1317T>G (p.Asn439Lys)
n.1530T>G
c.1320T>G (p.Asn440Lys)
c.1461T>G (n.1461T>G)
c.117T>G (p.Asn39Lys)
c.1458T>G (p.Asn486Lys)
c.969T>G (p.Asn323Lys)
3g.93884858A>GCA434459055PROS1c.1362T>C (p.Asn454=)
c.1317T>C (p.Asn439=)
n.1530T>C
c.1320T>C (p.Asn440=)
c.1461T>C (n.1461T>C)
c.117T>C (p.Asn39=)
c.1458T>C (p.Asn486=)
c.969T>C (p.Asn323=)
3g.93884858A>TCA353668843PROS1c.1362T>A (p.Asn454Lys)
c.1317T>A (p.Asn439Lys)
n.1530T>A
c.1320T>A (p.Asn440Lys)
c.1461T>A (n.1461T>A)
c.117T>A (p.Asn39Lys)
c.1458T>A (p.Asn486Lys)
c.969T>A (p.Asn323Lys)
3g.93884859T>ACA353668847PROS1c.1361A>T (p.Asn454Ile)
c.1316A>T (p.Asn439Ile)
n.1529A>T
c.1319A>T (p.Asn440Ile)
c.1460A>T (n.1460A>T)
c.116A>T (p.Asn39Ile)
c.1457A>T (p.Asn486Ile)
c.968A>T (p.Asn323Ile)
3g.93884859T>CCA78477953PROS1c.1361A>G (p.Asn454Ser)
c.1316A>G (p.Asn439Ser)
n.1529A>G
c.1319A>G (p.Asn440Ser)
c.1460A>G (n.1460A>G)
c.116A>G (p.Asn39Ser)
c.1457A>G (p.Asn486Ser)
c.968A>G (p.Asn323Ser)
dbSNP gnomAD v3 gnomAD v4
3g.93884859T>GCA353668850PROS1c.1361A>C (p.Asn454Thr)
c.1316A>C (p.Asn439Thr)
n.1529A>C
c.1319A>C (p.Asn440Thr)
c.1460A>C (n.1460A>C)
c.116A>C (p.Asn39Thr)
c.1457A>C (p.Asn486Thr)
c.968A>C (p.Asn323Thr)
3g.93884859T=CA1385033089PROS1c.1361A= (p.Asn454=)
c.1316A= (p.Asn439=)
n.1529A=
c.1319A= (p.Asn440=)
c.1460A= (n.1460A=)
c.116A= (p.Asn39=)
c.1457A= (p.Asn486=)
c.968A= (p.Asn323=)
3g.93884860T>ACA353668853PROS1c.1360A>T (p.Asn454Tyr)
c.1315A>T (p.Asn439Tyr)
n.1528A>T
c.1318A>T (p.Asn440Tyr)
c.1459A>T (n.1459A>T)
c.115A>T (p.Asn39Tyr)
c.1456A>T (p.Asn486Tyr)
c.967A>T (p.Asn323Tyr)
3g.93884860T>CCA353668855PROS1c.1360A>G (p.Asn454Asp)
c.1315A>G (p.Asn439Asp)
n.1528A>G
c.1318A>G (p.Asn440Asp)
c.1459A>G (n.1459A>G)
c.115A>G (p.Asn39Asp)
c.1456A>G (p.Asn486Asp)
c.967A>G (p.Asn323Asp)
3g.93884860T>GCA353668858PROS1c.1360A>C (p.Asn454His)
c.1315A>C (p.Asn439His)
n.1528A>C
c.1318A>C (p.Asn440His)
c.1459A>C (n.1459A>C)
c.115A>C (p.Asn39His)
c.1456A>C (p.Asn486His)
c.967A>C (p.Asn323His)
3g.93884861C>ACA353668860PROS1c.1359G>T (p.Trp453Cys)
c.1314G>T (p.Trp438Cys)
n.1527G>T
c.1317G>T (p.Trp439Cys)
c.1458G>T (n.1458G>T)
c.114G>T (p.Trp38Cys)
c.1455G>T (p.Trp485Cys)
c.966G>T (p.Trp322Cys)
3g.93884861C>GCA353668863PROS1c.1359G>C (p.Trp453Cys)
c.1314G>C (p.Trp438Cys)
n.1527G>C
c.1317G>C (p.Trp439Cys)
c.1458G>C (n.1458G>C)
c.114G>C (p.Trp38Cys)
c.1455G>C (p.Trp485Cys)
c.966G>C (p.Trp322Cys)
gnomAD v4
3g.93884861C>TCA353668865PROS1c.1359G>A (p.Trp453Ter)
c.1314G>A (p.Trp438Ter)
n.1527G>A
c.1317G>A (p.Trp439Ter)
c.1458G>A (n.1458G>A)
c.114G>A (p.Trp38Ter)
c.1455G>A (p.Trp485Ter)
c.966G>A (p.Trp322Ter)
3g.93884862C>ACA353668868PROS1c.1358G>T (p.Trp453Leu)
c.1313G>T (p.Trp438Leu)
n.1526G>T
c.1316G>T (p.Trp439Leu)
c.1457G>T (n.1457G>T)
c.113G>T (p.Trp38Leu)
c.1454G>T (p.Trp485Leu)
c.965G>T (p.Trp322Leu)
3g.93884862C=CA1385033090PROS1c.1358G= (p.Trp453=)
c.1313G= (p.Trp438=)
n.1526G=
c.1316G= (p.Trp439=)
c.1457G= (n.1457G=)
c.113G= (p.Trp38=)
c.1454G= (p.Trp485=)
c.965G= (p.Trp322=)
3g.93884862C>GCA353668869PROS1c.1358G>C (p.Trp453Ser)
c.1313G>C (p.Trp438Ser)
n.1526G>C
c.1316G>C (p.Trp439Ser)
c.1457G>C (n.1457G>C)
c.113G>C (p.Trp38Ser)
c.1454G>C (p.Trp485Ser)
c.965G>C (p.Trp322Ser)
3g.93884862C>TCA353668870PROS1c.1358G>A (p.Trp453Ter)
c.1313G>A (p.Trp438Ter)
n.1526G>A
c.1316G>A (p.Trp439Ter)
c.1457G>A (n.1457G>A)
c.113G>A (p.Trp38Ter)
c.1454G>A (p.Trp485Ter)
c.965G>A (p.Trp322Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.93884863A>CCA353668877PROS1c.1357T>G (p.Trp453Gly)
c.1312T>G (p.Trp438Gly)
n.1525T>G
c.1315T>G (p.Trp439Gly)
c.1456T>G (n.1456T>G)
c.112T>G (p.Trp38Gly)
c.1453T>G (p.Trp485Gly)
c.964T>G (p.Trp322Gly)
3g.93884863A>GCA353668875PROS1c.1357T>C (p.Trp453Arg)
c.1312T>C (p.Trp438Arg)
n.1525T>C
c.1315T>C (p.Trp439Arg)
c.1456T>C (n.1456T>C)
c.112T>C (p.Trp38Arg)
c.1453T>C (p.Trp485Arg)
c.964T>C (p.Trp322Arg)
3g.93884863A>TCA353668873PROS1c.1357T>A (p.Trp453Arg)
c.1312T>A (p.Trp438Arg)
n.1525T>A
c.1315T>A (p.Trp439Arg)
c.1456T>A (n.1456T>A)
c.112T>A (p.Trp38Arg)
c.1453T>A (p.Trp485Arg)
c.964T>A (p.Trp322Arg)
3g.93884864G>ACA434459056PROS1c.1356C>T (p.Ser452=)
c.1311C>T (p.Ser437=)
n.1524C>T
c.1314C>T (p.Ser438=)
c.1455C>T (n.1455C>T)
c.111C>T (p.Ser37=)
c.1452C>T (p.Ser484=)
c.963C>T (p.Ser321=)
gnomAD v4
3g.93884864G>CCA353668880PROS1c.1356C>G (p.Ser452Arg)
c.1311C>G (p.Ser437Arg)
n.1524C>G
c.1314C>G (p.Ser438Arg)
c.1455C>G (n.1455C>G)
c.111C>G (p.Ser37Arg)
c.1452C>G (p.Ser484Arg)
c.963C>G (p.Ser321Arg)
3g.93884864G>TCA353668882PROS1c.1356C>A (p.Ser452Arg)
c.1311C>A (p.Ser437Arg)
n.1524C>A
c.1314C>A (p.Ser438Arg)
c.1455C>A (n.1455C>A)
c.111C>A (p.Ser37Arg)
c.1452C>A (p.Ser484Arg)
c.963C>A (p.Ser321Arg)
3g.93884865C>ACA353668884PROS1c.1355G>T (p.Ser452Ile)
c.1310G>T (p.Ser437Ile)
n.1523G>T
c.1313G>T (p.Ser438Ile)
c.1454G>T (n.1454G>T)
c.110G>T (p.Ser37Ile)
c.1451G>T (p.Ser484Ile)
c.962G>T (p.Ser321Ile)
3g.93884865C>GCA353668887PROS1c.1355G>C (p.Ser452Thr)
c.1310G>C (p.Ser437Thr)
n.1523G>C
c.1313G>C (p.Ser438Thr)
c.1454G>C (n.1454G>C)
c.110G>C (p.Ser37Thr)
c.1451G>C (p.Ser484Thr)
c.962G>C (p.Ser321Thr)
3g.93884865C>TCA353668888PROS1c.1355G>A (p.Ser452Asn)
c.1310G>A (p.Ser437Asn)
n.1523G>A
c.1313G>A (p.Ser438Asn)
c.1454G>A (n.1454G>A)
c.110G>A (p.Ser37Asn)
c.1451G>A (p.Ser484Asn)
c.962G>A (p.Ser321Asn)
3g.93884866T>ACA353668895PROS1c.1354A>T (p.Ser452Cys)
c.1309A>T (p.Ser437Cys)
n.1522A>T
c.1312A>T (p.Ser438Cys)
c.1453A>T (n.1453A>T)
c.109A>T (p.Ser37Cys)
c.1450A>T (p.Ser484Cys)
c.961A>T (p.Ser321Cys)
3g.93884866T>CCA353668897PROS1c.1354A>G (p.Ser452Gly)
c.1309A>G (p.Ser437Gly)
n.1522A>G
c.1312A>G (p.Ser438Gly)
c.1453A>G (n.1453A>G)
c.109A>G (p.Ser37Gly)
c.1450A>G (p.Ser484Gly)
c.961A>G (p.Ser321Gly)
3g.93884866T>GCA353668900PROS1c.1354A>C (p.Ser452Arg)
c.1309A>C (p.Ser437Arg)
n.1522A>C
c.1312A>C (p.Ser438Arg)
c.1453A>C (n.1453A>C)
c.109A>C (p.Ser37Arg)
c.1450A>C (p.Ser484Arg)
c.961A>C (p.Ser321Arg)
3g.93884867T>ACA434459057PROS1c.1353A>T (p.Arg451=)
c.1308A>T (p.Arg436=)
n.1521A>T
c.1311A>T (p.Arg437=)
c.1452A>T (n.1452A>T)
c.108A>T (p.Arg36=)
c.1449A>T (p.Arg483=)
c.960A>T (p.Arg320=)
3g.93884867T>CCA434459058PROS1c.1353A>G (p.Arg451=)
c.1308A>G (p.Arg436=)
n.1521A>G
c.1311A>G (p.Arg437=)
c.1452A>G (n.1452A>G)
c.108A>G (p.Arg36=)
c.1449A>G (p.Arg483=)
c.960A>G (p.Arg320=)
3g.93884867T>GCA434459059PROS1c.1353A>C (p.Arg451=)
c.1308A>C (p.Arg436=)
n.1521A>C
c.1311A>C (p.Arg437=)
c.1452A>C (n.1452A>C)
c.108A>C (p.Arg36=)
c.1449A>C (p.Arg483=)
c.960A>C (p.Arg320=)
3g.93884868C>ACA353668903PROS1c.1352G>T (p.Arg451Leu)
c.1307G>T (p.Arg436Leu)
n.1520G>T
c.1310G>T (p.Arg437Leu)
c.1451G>T (n.1451G>T)
c.107G>T (p.Arg36Leu)
c.1448G>T (p.Arg483Leu)
c.959G>T (p.Arg320Leu)
3g.93884868C=CA1385033091PROS1c.1352G= (p.Arg451=)
c.1307G= (p.Arg436=)
n.1520G=
c.1310G= (p.Arg437=)
c.1451G= (n.1451G=)
c.107G= (p.Arg36=)
c.1448G= (p.Arg483=)
c.959G= (p.Arg320=)
3g.93884868C>GCA353668905PROS1c.1352G>C (p.Arg451Pro)
c.1307G>C (p.Arg436Pro)
n.1520G>C
c.1310G>C (p.Arg437Pro)
c.1451G>C (n.1451G>C)
c.107G>C (p.Arg36Pro)
c.1448G>C (p.Arg483Pro)
c.959G>C (p.Arg320Pro)
3g.93884868C>TCA2503201PROS1c.1352G>A (p.Arg451Gln)
c.1307G>A (p.Arg436Gln)
n.1520G>A
c.1310G>A (p.Arg437Gln)
c.1451G>A (n.1451G>A)
c.107G>A (p.Arg36Gln)
c.1448G>A (p.Arg483Gln)
c.959G>A (p.Arg320Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.93884869G>ACA78477958PROS1c.1351C>T (p.Arg451Ter)
c.1306C>T (p.Arg436Ter)
n.1519C>T
c.1309C>T (p.Arg437Ter)
c.1450C>T (n.1450C>T)
c.106C>T (p.Arg36Ter)
c.1447C>T (p.Arg483Ter)
c.958C>T (p.Arg320Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.93884869G>CCA353668910PROS1c.1351C>G (p.Arg451Gly)
c.1306C>G (p.Arg436Gly)
n.1519C>G
c.1309C>G (p.Arg437Gly)
c.1450C>G (n.1450C>G)
c.106C>G (p.Arg36Gly)
c.1447C>G (p.Arg483Gly)
c.958C>G (p.Arg320Gly)
gnomAD v4
3g.93884869G=CA1385033092PROS1c.1351C= (p.Arg451=)
c.1306C= (p.Arg436=)
n.1519C=
c.1309C= (p.Arg437=)
c.1450C= (n.1450C=)
c.106C= (p.Arg36=)
c.1447C= (p.Arg483=)
c.958C= (p.Arg320=)
3g.93884869G>TCA434459060PROS1c.1351C>A (p.Arg451=)
c.1306C>A (p.Arg436=)
n.1519C>A
c.1309C>A (p.Arg437=)
c.1450C>A (n.1450C>A)
c.106C>A (p.Arg36=)
c.1447C>A (p.Arg483=)
c.958C>A (p.Arg320=)
3g.93884870T>ACA434459061PROS1c.1350A>T (p.Ile450=)
c.1305A>T (p.Ile435=)
n.1518A>T
c.1308A>T (p.Ile436=)
c.1449A>T (n.1449A>T)
c.105A>T (p.Ile35=)
c.1446A>T (p.Ile482=)
c.957A>T (p.Ile319=)
3g.93884870T>CCA353668911PROS1c.1350A>G (p.Ile450Met)
c.1305A>G (p.Ile435Met)
n.1518A>G
c.1308A>G (p.Ile436Met)
c.1449A>G (n.1449A>G)
c.105A>G (p.Ile35Met)
c.1446A>G (p.Ile482Met)
c.957A>G (p.Ile319Met)
dbSNP gnomAD v2 gnomAD v4
3g.93884870T>GCA434459062PROS1c.1350A>C (p.Ile450=)
c.1305A>C (p.Ile435=)
n.1518A>C
c.1308A>C (p.Ile436=)
c.1449A>C (n.1449A>C)
c.105A>C (p.Ile35=)
c.1446A>C (p.Ile482=)
c.957A>C (p.Ile319=)
3g.93884870T=CA1385033093PROS1c.1350A= (p.Ile450=)
c.1305A= (p.Ile435=)
n.1518A=
c.1308A= (p.Ile436=)
c.1449A= (n.1449A=)
c.105A= (p.Ile35=)
c.1446A= (p.Ile482=)
c.957A= (p.Ile319=)
3g.93884871A>CCA353668916PROS1c.1349T>G (p.Ile450Arg)
c.1304T>G (p.Ile435Arg)
n.1517T>G
c.1307T>G (p.Ile436Arg)
c.1448T>G (n.1448T>G)
c.104T>G (p.Ile35Arg)
c.1445T>G (p.Ile482Arg)
c.956T>G (p.Ile319Arg)
3g.93884871A>GCA353668915PROS1c.1349T>C (p.Ile450Thr)
c.1304T>C (p.Ile435Thr)
n.1517T>C
c.1307T>C (p.Ile436Thr)
c.1448T>C (n.1448T>C)
c.104T>C (p.Ile35Thr)
c.1445T>C (p.Ile482Thr)
c.956T>C (p.Ile319Thr)
3g.93884871A>TCA353668913PROS1c.1349T>A (p.Ile450Lys)
c.1304T>A (p.Ile435Lys)
n.1517T>A
c.1307T>A (p.Ile436Lys)
c.1448T>A (n.1448T>A)
c.104T>A (p.Ile35Lys)
c.1445T>A (p.Ile482Lys)
c.956T>A (p.Ile319Lys)
3g.93884872T>ACA353668917PROS1c.1348A>T (p.Ile450Leu)
c.1303A>T (p.Ile435Leu)
n.1516A>T
c.1306A>T (p.Ile436Leu)
c.1447A>T (n.1447A>T)
c.103A>T (p.Ile35Leu)
c.1444A>T (p.Ile482Leu)
c.955A>T (p.Ile319Leu)
3g.93884872T>CCA353668918PROS1c.1348A>G (p.Ile450Val)
c.1303A>G (p.Ile435Val)
n.1516A>G
c.1306A>G (p.Ile436Val)
c.1447A>G (n.1447A>G)
c.103A>G (p.Ile35Val)
c.1444A>G (p.Ile482Val)
c.955A>G (p.Ile319Val)
dbSNP gnomAD v3 gnomAD v4
3g.93884872T>GCA353668919PROS1c.1348A>C (p.Ile450Leu)
c.1303A>C (p.Ile435Leu)
n.1516A>C
c.1306A>C (p.Ile436Leu)
c.1447A>C (n.1447A>C)
c.103A>C (p.Ile35Leu)
c.1444A>C (p.Ile482Leu)
c.955A>C (p.Ile319Leu)
3g.93884872T=CA1385033094PROS1c.1348A= (p.Ile450=)
c.1303A= (p.Ile435=)
n.1516A=
c.1306A= (p.Ile436=)
c.1447A= (n.1447A=)
c.103A= (p.Ile35=)
c.1444A= (p.Ile482=)
c.955A= (p.Ile319=)
3g.93884873A>CCA353668921PROS1c.1347T>G (p.Cys449Trp)
c.1302T>G (p.Cys434Trp)
n.1515T>G
c.1305T>G (p.Cys435Trp)
c.1446T>G (n.1446T>G)
c.102T>G (p.Cys34Trp)
c.1443T>G (p.Cys481Trp)
c.954T>G (p.Cys318Trp)
3g.93884873A>GCA434459064PROS1c.1347T>C (p.Cys449=)
c.1302T>C (p.Cys434=)
n.1515T>C
c.1305T>C (p.Cys435=)
c.1446T>C (n.1446T>C)
c.102T>C (p.Cys34=)
c.1443T>C (p.Cys481=)
c.954T>C (p.Cys318=)
3g.93884873A>TCA353668923PROS1c.1347T>A (p.Cys449Ter)
c.1302T>A (p.Cys434Ter)
n.1515T>A
c.1305T>A (p.Cys435Ter)
c.1446T>A (n.1446T>A)
c.102T>A (p.Cys34Ter)
c.1443T>A (p.Cys481Ter)
c.954T>A (p.Cys318Ter)
3g.93884874C>ACA353668925PROS1c.1346G>T (p.Cys449Phe)
c.1301G>T (p.Cys434Phe)
n.1514G>T
c.1304G>T (p.Cys435Phe)
c.1445G>T (n.1445G>T)
c.101G>T (p.Cys34Phe)
c.1442G>T (p.Cys481Phe)
c.953G>T (p.Cys318Phe)
3g.93884874C>GCA353668926PROS1c.1346G>C (p.Cys449Ser)
c.1301G>C (p.Cys434Ser)
n.1514G>C
c.1304G>C (p.Cys435Ser)
c.1445G>C (n.1445G>C)
c.101G>C (p.Cys34Ser)
c.1442G>C (p.Cys481Ser)
c.953G>C (p.Cys318Ser)
3g.93884874C>TCA353668927PROS1c.1346G>A (p.Cys449Tyr)
c.1301G>A (p.Cys434Tyr)
n.1514G>A
c.1304G>A (p.Cys435Tyr)
c.1445G>A (n.1445G>A)
c.101G>A (p.Cys34Tyr)
c.1442G>A (p.Cys481Tyr)
c.953G>A (p.Cys318Tyr)

Number of alleles fetched