Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207472781G>ACA344533475CR2c.1211G>A (p.Cys404Tyr)
c.1200G>A
c.1580G>A (p.Cys527Tyr)
c.30G>A (p.Leu10=)
1g.207472781G>CCA344533476CR2c.1211G>C (p.Cys404Ser)
c.1200G>C
c.1580G>C (p.Cys527Ser)
c.30G>C (p.Leu10=)
 dbSNP
1g.207472781G=CA2483411803CR2c.1211G= (p.Cys404=)
c.1200G=
c.1580G= (p.Cys527=)
c.30G= (p.Leu10=)
1g.207472781G>TCA344533479CR2c.1211G>T (p.Cys404Phe)
c.1200G>T
c.1580G>T (p.Cys527Phe)
c.30G>T (p.Leu10=)
 dbSNP gnomAD v4
1g.207472782C>ACA344533481CR2c.1212C>A (p.Cys404Ter)
c.1201C>A
c.1581C>A (p.Cys527Ter)
c.31C>A (p.Pro11Thr)
1g.207472782C>GCA344533482CR2c.1212C>G (p.Cys404Trp)
c.1201C>G
c.1581C>G (p.Cys527Trp)
c.31C>G (p.Pro11Ala)
1g.207472782C>TCA423138886CR2c.1212C>T (p.Cys404=)
c.1201C>T
c.1581C>T (p.Cys527=)
c.31C>T (p.Pro11Ser)
1g.207472783C>ACA344533485CR2c.1213C>A (p.Pro405Thr)
c.1202C>A
c.1582C>A (p.Pro528Thr)
c.32C>A (p.Pro11His)
1g.207472783C>GCA344533486CR2c.1213C>G (p.Pro405Ala)
c.1202C>G
c.1582C>G (p.Pro528Ala)
c.32C>G (p.Pro11Arg)
1g.207472783C>TCA344533487CR2c.1213C>T (p.Pro405Ser)
c.1202C>T
c.1582C>T (p.Pro528Ser)
c.32C>T (p.Pro11Leu)
1g.207472784C>ACA344533490CR2c.1214C>A (p.Pro405Gln)
c.1203C>A
c.1583C>A (p.Pro528Gln)
c.33C>A (p.Pro11=)
1g.207472784C=CA2483411804CR2c.1214C= (p.Pro405=)
c.1203C=
c.1583C= (p.Pro528=)
c.33C= (p.Pro11=)
1g.207472784C>GCA344533492CR2c.1214C>G (p.Pro405Arg)
c.1203C>G
c.1583C>G (p.Pro528Arg)
c.33C>G (p.Pro11=)
 gnomAD v4
1g.207472784C>TCA344533494CR2c.1214C>T (p.Pro405Leu)
c.1203C>T
c.1583C>T (p.Pro528Leu)
c.33C>T (p.Pro11=)
 dbSNP gnomAD v4
1g.207472785A=CA2483411805CR2c.1215A= (p.Pro405=)
c.1204A=
c.1584A= (p.Pro528=)
c.34A= (p.Thr12=)
1g.207472785A>CCA423138887CR2c.1215A>C (p.Pro405=)
c.1204A>C
c.1584A>C (p.Pro528=)
c.34A>C (p.Thr12Pro)
1g.207472785A>GCA423138888CR2c.1215A>G (p.Pro405=)
c.1204A>G
c.1584A>G (p.Pro528=)
c.34A>G (p.Thr12Ala)
 dbSNP gnomAD v4
1g.207472785A>TCA423138889CR2c.1215A>T (p.Pro405=)
c.1204A>T
c.1584A>T (p.Pro528=)
c.34A>T (p.Thr12Ser)
1g.207472786C>ACA344533496CR2c.1216C>A (p.Pro406Thr)
c.1205C>A
c.1585C>A (p.Pro529Thr)
c.35C>A (p.Thr12Asn)
1g.207472786C>GCA344533498CR2c.1216C>G (p.Pro406Ala)
c.1205C>G
c.1585C>G (p.Pro529Ala)
c.35C>G (p.Thr12Ser)
1g.207472786C>TCA344533500CR2c.1216C>T (p.Pro406Ser)
c.1205C>T
c.1585C>T (p.Pro529Ser)
c.35C>T (p.Thr12Ile)
1g.207472787delCA2650263599CR2c.1217del (p.Pro406HisfsTer15)
c.1206del
c.1586del (p.Pro529HisfsTer15)
c.36del (p.Thr13ProfsTer?)
 gnomAD v4
1g.207472787C>ACA344533503CR2c.1217C>A (p.Pro406Gln)
c.1206C>A
c.1586C>A (p.Pro529Gln)
c.36C>A (p.Thr12=)
1g.207472787C>GCA344533505CR2c.1217C>G (p.Pro406Arg)
c.1206C>G
c.1586C>G (p.Pro529Arg)
c.36C>G (p.Thr12=)
1g.207472787C>TCA344533502CR2c.1217C>T (p.Pro406Leu)
c.1206C>T
c.1586C>T (p.Pro529Leu)
c.36C>T (p.Thr12=)
 gnomAD v4
1g.207472788A>CCA423138890CR2c.1218A>C (p.Pro406=)
c.1207A>C
c.1587A>C (p.Pro529=)
c.37A>C (p.Thr13Pro)
1g.207472788A>GCA423138891CR2c.1218A>G (p.Pro406=)
c.1207A>G
c.1587A>G (p.Pro529=)
c.37A>G (p.Thr13Ala)
1g.207472788A>TCA423138892CR2c.1218A>T (p.Pro406=)
c.1207A>T
c.1587A>T (p.Pro529=)
c.37A>T (p.Thr13Ser)
 COSMIC
1g.207472789C>ACA344533508CR2c.1219C>A (p.Pro407Thr)
c.1208C>A
c.1588C>A (p.Pro530Thr)
c.38C>A (p.Thr13Asn)
1g.207472789C=CA1142074681CR2c.1219C= (p.Pro407=)
c.1208C=
c.1588C= (p.Pro530=)
c.38C= (p.Thr13=)
1g.207472789C>GCA36652086CR2c.1219C>G (p.Pro407Ala)
c.1208C>G
c.1588C>G (p.Pro530Ala)
c.38C>G (p.Thr13Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472789C>TCA344533511CR2c.1219C>T (p.Pro407Ser)
c.1208C>T
c.1588C>T (p.Pro530Ser)
c.38C>T (p.Thr13Ile)
 gnomAD v4
1g.207472790C>ACA344533513CR2c.1220C>A (p.Pro407His)
c.1209C>A
c.1589C>A (p.Pro530His)
c.39C>A (p.Thr13=)
1g.207472790C>GCA344533515CR2c.1220C>G (p.Pro407Arg)
c.1209C>G
c.1589C>G (p.Pro530Arg)
c.39C>G (p.Thr13=)
1g.207472790C>TCA344533517CR2c.1220C>T (p.Pro407Leu)
c.1209C>T
c.1589C>T (p.Pro530Leu)
c.39C>T (p.Thr13=)
1g.207472791C>ACA1368774CR2c.1221C>A (p.Pro407=)
c.1210C>A
c.1590C>A (p.Pro530=)
c.40C>A (p.Pro14Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472791C=CA2483411806CR2c.1221C= (p.Pro407=)
c.1210C=
c.1590C= (p.Pro530=)
c.40C= (p.Pro14=)
1g.207472791C>GCA423138893CR2c.1221C>G (p.Pro407=)
c.1210C>G
c.1590C>G (p.Pro530=)
c.40C>G (p.Pro14Ala)
1g.207472791C>TCA1368773CR2c.1221C>T (p.Pro407=)
c.1210C>T
c.1590C>T (p.Pro530=)
c.40C>T (p.Pro14Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472791_207472794delCA2526043973CR2c.1221_1224del (p.Pro408LeufsTer12)
c.1210_1213del
c.1590_1593del (p.Pro531LeufsTer12)
c.40_43del (p.Pro14ValfsTer?)
1g.207472792C>ACA344533523CR2c.1222C>A (p.Pro408Thr)
c.1211C>A
c.1591C>A (p.Pro531Thr)
c.41C>A (p.Pro14His)
1g.207472792C=CA2483411808CR2c.1222C= (p.Pro408=)
c.1211C=
c.1591C= (p.Pro531=)
c.41C= (p.Pro14=)
1g.207472792C>GCA344533524CR2c.1222C>G (p.Pro408Ala)
c.1211C>G
c.1591C>G (p.Pro531Ala)
c.41C>G (p.Pro14Arg)
 dbSNP COSMIC
1g.207472792C>TCA344533526CR2c.1222C>T (p.Pro408Ser)
c.1211C>T
c.1591C>T (p.Pro531Ser)
c.41C>T (p.Pro14Leu)
 ClinVar gnomAD v4 COSMIC
1g.207472792_207472794delinsCCTCA2483411807CR2c.1222_1224delinsCCT (p.Pro408=)
c.1211_1213delinsCCT
c.1591_1593delinsCCT (p.Pro531=)
c.41_43delinsCCT (p.Pro14=)
1g.207472793C>ACA344533532CR2c.1223C>A (p.Pro408His)
c.1212C>A
c.1592C>A (p.Pro531His)
c.42C>A (p.Pro14=)
1g.207472793C=CA2483411809CR2c.1223C= (p.Pro408=)
c.1212C=
c.1592C= (p.Pro531=)
c.42C= (p.Pro14=)
1g.207472793C>GCA344533530CR2c.1223C>G (p.Pro408Arg)
c.1212C>G
c.1592C>G (p.Pro531Arg)
c.42C>G (p.Pro14=)
1g.207472793C>TCA344533529CR2c.1223C>T (p.Pro408Leu)
c.1212C>T
c.1592C>T (p.Pro531Leu)
c.42C>T (p.Pro14=)
 dbSNP gnomAD v4
1g.207472793_207472794delCA528999229CR2c.1223_1224del (p.Pro408ArgfsTer26)
c.1212_1213del
c.1592_1593del (p.Pro531ArgfsTer26)
c.42_43del (p.Cys15LeufsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.207472794T>ACA423138894CR2c.1224T>A (p.Pro408=)
c.1213T>A
c.1593T>A (p.Pro531=)
c.43T>A (p.Cys15Ser)
1g.207472794T>CCA423138895CR2c.1224T>C (p.Pro408=)
c.1213T>C
c.1593T>C (p.Pro531=)
c.43T>C (p.Cys15Arg)
1g.207472794T>GCA423138896CR2c.1224T>G (p.Pro408=)
c.1213T>G
c.1593T>G (p.Pro531=)
c.43T>G (p.Cys15Gly)
1g.207472795G>ACA344533535CR2c.1225G>A (p.Val409Ile)
c.1214G>A
c.1594G>A (p.Val532Ile)
c.44G>A (p.Cys15Tyr)
1g.207472795G>CCA344533536CR2c.1225G>C (p.Val409Leu)
c.1214G>C
c.1594G>C (p.Val532Leu)
c.44G>C (p.Cys15Ser)
1g.207472795G>TCA344533539CR2c.1225G>T (p.Val409Phe)
c.1214G>T
c.1594G>T (p.Val532Phe)
c.44G>T (p.Cys15Phe)
 gnomAD v4
1g.207472796T>ACA344533541CR2c.1226T>A (p.Val409Asp)
c.1215T>A
c.1595T>A (p.Val532Asp)
c.45T>A (p.Cys15Ter)
1g.207472796T>CCA344533542CR2c.1226T>C (p.Val409Ala)
c.1215T>C
c.1595T>C (p.Val532Ala)
c.45T>C (p.Cys15=)
1g.207472796T>GCA344533545CR2c.1226T>G (p.Val409Gly)
c.1215T>G
c.1595T>G (p.Val532Gly)
c.45T>G (p.Cys15Trp)
1g.207472797T>ACA423138898CR2c.1227T>A (p.Val409=)
c.1216T>A
c.1596T>A (p.Val532=)
c.46T>A (p.Tyr16Asn)
 COSMIC
1g.207472797T>CCA423138899CR2c.1227T>C (p.Val409=)
c.1216T>C
c.1596T>C (p.Val532=)
c.46T>C (p.Tyr16His)
1g.207472797T>GCA423138897CR2c.1227T>G (p.Val409=)
c.1216T>G
c.1596T>G (p.Val532=)
c.46T>G (p.Tyr16Asp)
1g.207472798A=CA2483411810CR2c.1228A= (p.Ile410=)
c.1217A=
c.1597A= (p.Ile533=)
c.47A= (p.Tyr16=)
1g.207472798A>CCA344533547CR2c.1228A>C (p.Ile410Leu)
c.1217A>C
c.1597A>C (p.Ile533Leu)
c.47A>C (p.Tyr16Ser)
1g.207472798A>GCA344533549CR2c.1228A>G (p.Ile410Val)
c.1217A>G
c.1597A>G (p.Ile533Val)
c.47A>G (p.Tyr16Cys)
 gnomAD v4
1g.207472798A>TCA1368775CR2c.1228A>T (p.Ile410Phe)
c.1217A>T
c.1597A>T (p.Ile533Phe)
c.47A>T (p.Tyr16Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472799T>ACA344533553CR2c.1229T>A (p.Ile410Asn)
c.1218T>A
c.1598T>A (p.Ile533Asn)
c.48T>A (p.Tyr16Ter)
1g.207472799T>CCA344533555CR2c.1229T>C (p.Ile410Thr)
c.1218T>C
c.1598T>C (p.Ile533Thr)
c.48T>C (p.Tyr16=)
1g.207472799T>GCA344533557CR2c.1229T>G (p.Ile410Ser)
c.1218T>G
c.1598T>G (p.Ile533Ser)
c.48T>G (p.Tyr16Ter)
1g.207472800C>ACA423138900CR2c.1230C>A (p.Ile410=)
c.1219C>A
c.1599C>A (p.Ile533=)
c.49C>A (p.Leu17Ile)
 gnomAD v4
1g.207472800C>GCA344533559CR2c.1230C>G (p.Ile410Met)
c.1219C>G
c.1599C>G (p.Ile533Met)
c.49C>G (p.Leu17Val)
1g.207472800C>TCA423138901CR2c.1230C>T (p.Ile410=)
c.1219C>T
c.1599C>T (p.Ile533=)
c.49C>T (p.Leu17=)
 gnomAD v4
1g.207472801T>ACA344533564CR2c.1231T>A (p.Tyr411Asn)
c.1220T>A
c.1600T>A (p.Tyr534Asn)
c.50T>A (p.Leu17Gln)
1g.207472801T>CCA344533566CR2c.1231T>C (p.Tyr411His)
c.1220T>C
c.1600T>C (p.Tyr534His)
c.50T>C (p.Leu17Pro)
1g.207472801T>GCA344533561CR2c.1231T>G (p.Tyr411Asp)
c.1220T>G
c.1600T>G (p.Tyr534Asp)
c.50T>G (p.Leu17Arg)
1g.207472802A=CA2483411811CR2c.1232A= (p.Tyr411=)
c.1221A=
c.1601A= (p.Tyr534=)
c.51A= (p.Leu17=)
1g.207472802A>CCA344533570CR2c.1232A>C (p.Tyr411Ser)
c.1221A>C
c.1601A>C (p.Tyr534Ser)
c.51A>C (p.Leu17=)
1g.207472802A>GCA344533568CR2c.1232A>G (p.Tyr411Cys)
c.1221A>G
c.1601A>G (p.Tyr534Cys)
c.51A>G (p.Leu17=)
 dbSNP
1g.207472802A>TCA344533572CR2c.1232A>T (p.Tyr411Phe)
c.1221A>T
c.1601A>T (p.Tyr534Phe)
c.51A>T (p.Leu17=)
1g.207472803C>ACA344533574CR2c.1233C>A (p.Tyr411Ter)
c.1222C>A
c.1602C>A (p.Tyr534Ter)
c.52C>A (p.Gln18Lys)
1g.207472803C>GCA344533576CR2c.1233C>G (p.Tyr411Ter)
c.1222C>G
c.1602C>G (p.Tyr534Ter)
c.52C>G (p.Gln18Glu)
1g.207472803C>TCA423138902CR2c.1233C>T (p.Tyr411=)
c.1222C>T
c.1602C>T (p.Tyr534=)
c.52C>T (p.Gln18Ter)
1g.207472804A=CA2483411812CR2c.1234A= (p.Asn412=)
c.1223A=
c.1603A= (p.Asn535=)
c.53A= (p.Gln18=)
1g.207472804A>CCA344533579CR2c.1234A>C (p.Asn412His)
c.1223A>C
c.1603A>C (p.Asn535His)
c.53A>C (p.Gln18Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472804A>GCA344533581CR2c.1234A>G (p.Asn412Asp)
c.1223A>G
c.1603A>G (p.Asn535Asp)
c.53A>G (p.Gln18Arg)
1g.207472804A>TCA344533582CR2c.1234A>T (p.Asn412Tyr)
c.1223A>T
c.1603A>T (p.Asn535Tyr)
c.53A>T (p.Gln18Leu)
1g.207472805A=CA2483411813CR2c.1235A= (p.Asn412=)
c.1224A=
c.1604A= (p.Asn535=)
c.54A= (p.Gln18=)
1g.207472805A>CCA344533585CR2c.1235A>C (p.Asn412Thr)
c.1224A>C
c.1604A>C (p.Asn535Thr)
c.54A>C (p.Gln18His)
1g.207472805A>GCA344533587CR2c.1235A>G (p.Asn412Ser)
c.1224A>G
c.1604A>G (p.Asn535Ser)
c.54A>G (p.Gln18=)
 dbSNP
1g.207472805A>TCA344533589CR2c.1235A>T (p.Asn412Ile)
c.1224A>T
c.1604A>T (p.Asn535Ile)
c.54A>T (p.Gln18His)
1g.207472806T>ACA344533592CR2c.1236T>A (p.Asn412Lys)
c.1225T>A
c.1605T>A (p.Asn535Lys)
c.55T>A (p.Trp19Arg)
1g.207472806T>CCA423138903CR2c.1236T>C (p.Asn412=)
c.1225T>C
c.1605T>C (p.Asn535=)
c.55T>C (p.Trp19Arg)
 ClinVar dbSNP gnomAD v4
1g.207472806T>GCA344533593CR2c.1236T>G (p.Asn412Lys)
c.1225T>G
c.1605T>G (p.Asn535Lys)
c.55T>G (p.Trp19Gly)
1g.207472807G>ACA344533596CR2c.1237G>A (p.Gly413Arg)
c.1226G>A
c.1606G>A (p.Gly536Arg)
c.56G>A (p.Trp19Ter)
1g.207472807G>CCA344533598CR2c.1237G>C (p.Gly413Arg)
c.1226G>C
c.1606G>C (p.Gly536Arg)
c.56G>C (p.Trp19Ser)
1g.207472807G>TCA344533600CR2c.1237G>T (p.Gly413Trp)
c.1226G>T
c.1606G>T (p.Gly536Trp)
c.56G>T (p.Trp19Leu)
1g.207472808G>ACA344533607CR2c.1238G>A (p.Gly413Glu)
c.1227G>A
c.1607G>A (p.Gly536Glu)
c.57G>A (p.Trp19Ter)
1g.207472808G>CCA344533604CR2c.1238G>C (p.Gly413Ala)
c.1227G>C
c.1607G>C (p.Gly536Ala)
c.57G>C (p.Trp19Cys)
1g.207472808G>TCA344533602CR2c.1238G>T (p.Gly413Val)
c.1227G>T
c.1607G>T (p.Gly536Val)
c.57G>T (p.Trp19Cys)
1g.207472809G>ACA423138906CR2c.1239G>A (p.Gly413=)
c.1228G>A
c.1608G>A (p.Gly536=)
c.58G>A (p.Gly20Ser)
 gnomAD v4
1g.207472809G>CCA423138904CR2c.1239G>C (p.Gly413=)
c.1228G>C
c.1608G>C (p.Gly536=)
c.58G>C (p.Gly20Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472809G=CA2483411814CR2c.1239G= (p.Gly413=)
c.1228G=
c.1608G= (p.Gly536=)
c.58G= (p.Gly20=)
1g.207472809G>TCA423138905CR2c.1239G>T (p.Gly413=)
c.1228G>T
c.1608G>T (p.Gly536=)
c.58G>T (p.Gly20Cys)
1g.207472810G>ACA344533609CR2c.1240G>A (p.Ala414Thr)
c.1229G>A
c.1609G>A (p.Ala537Thr)
c.59G>A (p.Gly20Asp)
1g.207472810G>CCA344533611CR2c.1240G>C (p.Ala414Pro)
c.1229G>C
c.1609G>C (p.Ala537Pro)
c.59G>C (p.Gly20Ala)
1g.207472810G>TCA344533613CR2c.1240G>T (p.Ala414Ser)
c.1229G>T
c.1609G>T (p.Ala537Ser)
c.59G>T (p.Gly20Val)
1g.207472811C>ACA344533615CR2c.1241C>A (p.Ala414Glu)
c.1230C>A
c.1610C>A (p.Ala537Glu)
c.60C>A (p.Gly20=)
1g.207472811C>GCA344533617CR2c.1241C>G (p.Ala414Gly)
c.1230C>G
c.1610C>G (p.Ala537Gly)
c.60C>G (p.Gly20=)
1g.207472811C>TCA344533619CR2c.1241C>T (p.Ala414Val)
c.1230C>T
c.1610C>T (p.Ala537Val)
c.60C>T (p.Gly20=)
 gnomAD v4
1g.207472812A>CCA423138907CR2c.1242A>C (p.Ala414=)
c.1231A>C
c.1611A>C (p.Ala537=)
c.61A>C (p.Thr21Pro)
1g.207472812A>GCA423138908CR2c.1242A>G (p.Ala414=)
c.1231A>G
c.1611A>G (p.Ala537=)
c.61A>G (p.Thr21Ala)
1g.207472812A>TCA423138909CR2c.1242A>T (p.Ala414=)
c.1231A>T
c.1611A>T (p.Ala537=)
c.61A>T (p.Thr21Ser)
1g.207472813C>ACA344533621CR2c.1243C>A (p.His415Asn)
c.1232C>A
c.1612C>A (p.His538Asn)
c.62C>A (p.Thr21Lys)
1g.207472813C>GCA344533623CR2c.1243C>G (p.His415Asp)
c.1232C>G
c.1612C>G (p.His538Asp)
c.62C>G (p.Thr21Arg)
1g.207472813C>TCA344533625CR2c.1243C>T (p.His415Tyr)
c.1232C>T
c.1612C>T (p.His538Tyr)
c.62C>T (p.Thr21Ile)
1g.207472814A=CA2483411815CR2c.1244A= (p.His415=)
c.1233A=
c.1613A= (p.His538=)
c.63A= (p.Thr21=)
1g.207472814A>CCA344533627CR2c.1244A>C (p.His415Pro)
c.1233A>C
c.1613A>C (p.His538Pro)
c.63A>C (p.Thr21=)
1g.207472814A>GCA1368776CR2c.1244A>G (p.His415Arg)
c.1233A>G
c.1613A>G (p.His538Arg)
c.63A>G (p.Thr21=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472814A>TCA344533630CR2c.1244A>T (p.His415Leu)
c.1233A>T
c.1613A>T (p.His538Leu)
c.63A>T (p.Thr21=)
1g.207472815C>ACA344533633CR2c.1245C>A (p.His415Gln)
c.1234C>A
c.1614C>A (p.His538Gln)
c.64C>A (p.His22Asn)
1g.207472815C>GCA344533635CR2c.1245C>G (p.His415Gln)
c.1234C>G
c.1614C>G (p.His538Gln)
c.64C>G (p.His22Asp)
1g.207472815C>TCA423138910CR2c.1245C>T (p.His415=)
c.1234C>T
c.1614C>T (p.His538=)
c.64C>T (p.His22Tyr)
 gnomAD v4
1g.207472816A>CCA344533639CR2c.1246A>C (p.Thr416Pro)
c.1235A>C
c.1615A>C (p.Thr539Pro)
c.65A>C (p.His22Pro)
1g.207472816A>GCA344533641CR2c.1246A>G (p.Thr416Ala)
c.1235A>G
c.1615A>G (p.Thr539Ala)
c.65A>G (p.His22Arg)
1g.207472816A>TCA344533638CR2c.1246A>T (p.Thr416Ser)
c.1235A>T
c.1615A>T (p.Thr539Ser)
c.65A>T (p.His22Leu)
1g.207472817C>ACA344533643CR2c.1247C>A (p.Thr416Asn)
c.1236C>A
c.1616C>A (p.Thr539Asn)
c.66C>A (p.His22Gln)
1g.207472817C>GCA344533646CR2c.1247C>G (p.Thr416Ser)
c.1236C>G
c.1616C>G (p.Thr539Ser)
c.66C>G (p.His22Gln)
1g.207472817C>TCA344533648CR2c.1247C>T (p.Thr416Ile)
c.1236C>T
c.1616C>T (p.Thr539Ile)
c.66C>T (p.His22=)
1g.207472818C>ACA423138911CR2c.1248C>A (p.Thr416=)
c.1237C>A
c.1617C>A (p.Thr539=)
c.67C>A (p.Arg23=)
 dbSNP
1g.207472818C=CA1140515756CR2c.1248C= (p.Thr416=)
c.1237C=
c.1617C= (p.Thr539=)
c.67C= (p.Arg23=)
1g.207472818C>GCA423138912CR2c.1248C>G (p.Thr416=)
c.1237C>G
c.1617C>G (p.Thr539=)
c.67C>G (p.Arg23Gly)
1g.207472818C>TCA1368777CR2c.1248C>T (p.Thr416=)
c.1237C>T
c.1617C>T (p.Thr539=)
c.67C>T (p.Arg23Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472819G>ACA1368779CR2c.1249G>A (p.Gly417Arg)
c.1238G>A
c.1618G>A (p.Gly540Arg)
c.68G>A (p.Arg23Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472819G>CCA344533653CR2c.1249G>C (p.Gly417Arg)
c.1238G>C
c.1618G>C (p.Gly540Arg)
c.68G>C (p.Arg23Pro)
1g.207472819G=CA2483411816CR2c.1249G= (p.Gly417=)
c.1238G=
c.1618G= (p.Gly540=)
c.68G= (p.Arg23=)
1g.207472819G>TCA1368778CR2c.1249G>T (p.Gly417Trp)
c.1238G>T
c.1618G>T (p.Gly540Trp)
c.68G>T (p.Arg23Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472820G>ACA344533656CR2c.1250G>A (p.Gly417Glu)
c.1239G>A
c.1619G>A (p.Gly540Glu)
c.69G>A (p.Arg23=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.207472820G>CCA344533658CR2c.1250G>C (p.Gly417Ala)
c.1239G>C
c.1619G>C (p.Gly540Ala)
c.69G>C (p.Arg23=)
1g.207472820G=CA2483411817CR2c.1250G= (p.Gly417=)
c.1239G=
c.1619G= (p.Gly540=)
c.69G= (p.Arg23=)
1g.207472820G>TCA344533661CR2c.1250G>T (p.Gly417Val)
c.1239G>T
c.1619G>T (p.Gly540Val)
c.69G>T (p.Arg23=)
1g.207472820_207472821insCCCACA2540239635CR2c.1250_1251insCCCA (p.Ser418ProfsTer18)
c.1239_1240insCCCA
c.1619_1620insCCCA (p.Ser541ProfsTer18)
c.69_70insCCCA (p.Glu24ProfsTer5)
1g.207472821G>ACA423138913CR2c.1251G>A (p.Gly417=)
c.1240G>A
c.1620G>A (p.Gly540=)
c.70G>A (p.Glu24Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.207472821G>CCA423138914CR2c.1251G>C (p.Gly417=)
c.1240G>C
c.1620G>C (p.Gly540=)
c.70G>C (p.Glu24Gln)
 gnomAD v4
1g.207472821G=CA2483411818CR2c.1251G= (p.Gly417=)
c.1240G=
c.1620G= (p.Gly540=)
c.70G= (p.Glu24=)
1g.207472821G>TCA423138915CR2c.1251G>T (p.Gly417=)
c.1240G>T
c.1620G>T (p.Gly540=)
c.70G>T (p.Glu24Ter)
1g.207472822A>CCA344533663CR2c.1252A>C (p.Ser418Arg)
c.1241A>C
c.1621A>C (p.Ser541Arg)
c.71A>C (p.Glu24Ala)
1g.207472822A>GCA344533665CR2c.1252A>G (p.Ser418Gly)
c.1241A>G
c.1621A>G (p.Ser541Gly)
c.71A>G (p.Glu24Gly)
1g.207472822A>TCA344533667CR2c.1252A>T (p.Ser418Cys)
c.1241A>T
c.1621A>T (p.Ser541Cys)
c.71A>T (p.Glu24Val)
1g.207472823G>ACA344533669CR2c.1253G>A (p.Ser418Asn)
c.1242G>A
c.1622G>A (p.Ser541Asn)
c.72G>A (p.Glu24=)
 dbSNP gnomAD v4
1g.207472823G>CCA344533671CR2c.1253G>C (p.Ser418Thr)
c.1242G>C
c.1622G>C (p.Ser541Thr)
c.72G>C (p.Glu24Asp)
1g.207472823G=CA1141969455CR2c.1253G= (p.Ser418=)
c.1242G=
c.1622G= (p.Ser541=)
c.72G= (p.Glu24=)
1g.207472823G>TCA1368780CR2c.1253G>T (p.Ser418Ile)
c.1242G>T
c.1622G>T (p.Ser541Ile)
c.72G>T (p.Glu24Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472824T>ACA344533673CR2c.1254T>A (p.Ser418Arg)
c.1243T>A
c.1623T>A (p.Ser541Arg)
c.73T>A (p.Phe25Ile)
 gnomAD v4
1g.207472824T>CCA423138916CR2c.1254T>C (p.Ser418=)
c.1243T>C
c.1623T>C (p.Ser541=)
c.73T>C (p.Phe25Leu)
1g.207472824T>GCA344533675CR2c.1254T>G (p.Ser418Arg)
c.1243T>G
c.1623T>G (p.Ser541Arg)
c.73T>G (p.Phe25Val)
1g.207472825T>ACA344533676CR2c.1255T>A (p.Ser419Thr)
c.1244T>A
c.1624T>A (p.Ser542Thr)
c.74T>A (p.Phe25Tyr)
1g.207472825T>CCA344533678CR2c.1255T>C (p.Ser419Pro)
c.1244T>C
c.1624T>C (p.Ser542Pro)
c.74T>C (p.Phe25Ser)
1g.207472825T>GCA344533680CR2c.1255T>G (p.Ser419Ala)
c.1244T>G
c.1624T>G (p.Ser542Ala)
c.74T>G (p.Phe25Cys)
1g.207472826C>ACA344533682CR2c.1256C>A (p.Ser419Tyr)
c.1245C>A
c.1625C>A (p.Ser542Tyr)
c.75C>A (p.Phe25Leu)
 COSMIC
1g.207472826C>GCA344533684CR2c.1256C>G (p.Ser419Cys)
c.1245C>G
c.1625C>G (p.Ser542Cys)
c.75C>G (p.Phe25Leu)
1g.207472826C>TCA344533686CR2c.1256C>T (p.Ser419Phe)
c.1245C>T
c.1625C>T (p.Ser542Phe)
c.75C>T (p.Phe25=)
 gnomAD v4
1g.207472827C>ACA423138917CR2c.1257C>A (p.Ser419=)
c.1246C>A
c.1626C>A (p.Ser542=)
c.76C>A (p.Leu26Ile)
1g.207472827C=CA2483411819CR2c.1257C= (p.Ser419=)
c.1246C=
c.1626C= (p.Ser542=)
c.76C= (p.Leu26=)
1g.207472827C>GCA423138918CR2c.1257C>G (p.Ser419=)
c.1246C>G
c.1626C>G (p.Ser542=)
c.76C>G (p.Leu26Val)
 dbSNP gnomAD v2
1g.207472827C>TCA423138919CR2c.1257C>T (p.Ser419=)
c.1246C>T
c.1626C>T (p.Ser542=)
c.76C>T (p.Leu26Phe)
 gnomAD v4
1g.207472828T>ACA344533688CR2c.1258T>A (p.Leu420Ile)
c.1247T>A
c.1627T>A (p.Leu543Ile)
c.77T>A (p.Leu26His)
1g.207472828T>CCA423138920CR2c.1258T>C (p.Leu420=)
c.1247T>C
c.1627T>C (p.Leu543=)
c.77T>C (p.Leu26Pro)
1g.207472828T>GCA344533690CR2c.1258T>G (p.Leu420Val)
c.1247T>G
c.1627T>G (p.Leu543Val)
c.77T>G (p.Leu26Arg)
1g.207472829T>ACA344533695CR2c.1259T>A (p.Leu420Ter)
c.1248T>A
c.1628T>A (p.Leu543Ter)
c.78T>A (p.Leu26=)
1g.207472829T>CCA36652102CR2c.1259T>C (p.Leu420Ser)
c.1248T>C
c.1628T>C (p.Leu543Ser)
c.78T>C (p.Leu26=)
 ClinVar dbSNP
1g.207472829T>GCA344533693CR2c.1259T>G (p.Leu420Ter)
c.1248T>G
c.1628T>G (p.Leu543Ter)
c.78T>G (p.Leu26=)
1g.207472829T=CA2483411820CR2c.1259T= (p.Leu420=)
c.1248T=
c.1628T= (p.Leu543=)
c.78T= (p.Leu26=)
1g.207472830A=CA1143382288CR2c.1260A= (p.Leu420=)
c.1249A=
c.1629A= (p.Leu543=)
c.79A= (p.Arg27=)
1g.207472830A>CCA344533698CR2c.1260A>C (p.Leu420Phe)
c.1249A>C
c.1629A>C (p.Leu543Phe)
c.79A>C (p.Arg27=)
1g.207472830A>GCA1368781CR2c.1260A>G (p.Leu420=)
c.1249A>G
c.1629A>G (p.Leu543=)
c.79A>G (p.Arg27Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472830A>TCA344533701CR2c.1260A>T (p.Leu420Phe)
c.1249A>T
c.1629A>T (p.Leu543Phe)
c.79A>T (p.Arg27Ter)
1g.207472833_207472835delCA2650263600CR2c.1263_1265del (p.Glu421del)
c.1252_1254del
c.1632_1634del (p.Glu544del)
c.82_84del (p.Arg28del)
 gnomAD v4
1g.207472831G>ACA344533703CR2c.1261G>A (p.Glu421Lys)
c.1250G>A
c.1630G>A (p.Glu544Lys)
c.80G>A (p.Arg27Lys)
1g.207472831G>CCA344533705CR2c.1261G>C (p.Glu421Gln)
c.1250G>C
c.1630G>C (p.Glu544Gln)
c.80G>C (p.Arg27Thr)
1g.207472831G>TCA344533707CR2c.1261G>T (p.Glu421Ter)
c.1250G>T
c.1630G>T (p.Glu544Ter)
c.80G>T (p.Arg27Ile)
1g.207472832A>CCA344533713CR2c.1262A>C (p.Glu421Ala)
c.1251A>C
c.1631A>C (p.Glu544Ala)
c.81A>C (p.Arg27Ser)
1g.207472832A>GCA344533709CR2c.1262A>G (p.Glu421Gly)
c.1251A>G
c.1631A>G (p.Glu544Gly)
c.81A>G (p.Arg27=)
1g.207472832A>TCA344533711CR2c.1262A>T (p.Glu421Val)
c.1251A>T
c.1631A>T (p.Glu544Val)
c.81A>T (p.Arg27Ser)
1g.207472833A>CCA344533715CR2c.1263A>C (p.Glu421Asp)
c.1252A>C
c.1632A>C (p.Glu544Asp)
c.82A>C (p.Arg28=)
1g.207472833A>GCA423138921CR2c.1263A>G (p.Glu421=)
c.1252A>G
c.1632A>G (p.Glu544=)
c.82A>G (p.Arg28Gly)
1g.207472833A>TCA344533717CR2c.1263A>T (p.Glu421Asp)
c.1252A>T
c.1632A>T (p.Glu544Asp)
c.82A>T (p.Arg28Ter)
1g.207472834G>ACA344533719CR2c.1264G>A (p.Asp422Asn)
c.1253G>A
c.1633G>A (p.Asp545Asn)
c.83G>A (p.Arg28Lys)
1g.207472834G>CCA344533721CR2c.1264G>C (p.Asp422His)
c.1253G>C
c.1633G>C (p.Asp545His)
c.83G>C (p.Arg28Thr)
 ClinVar
1g.207472834G>TCA344533723CR2c.1264G>T (p.Asp422Tyr)
c.1253G>T
c.1633G>T (p.Asp545Tyr)
c.83G>T (p.Arg28Ile)
1g.207472835A>CCA344533729CR2c.1265A>C (p.Asp422Ala)
c.1254A>C
c.1634A>C (p.Asp545Ala)
c.84A>C (p.Arg28Ser)
1g.207472835A>GCA344533725CR2c.1265A>G (p.Asp422Gly)
c.1254A>G
c.1634A>G (p.Asp545Gly)
c.84A>G (p.Arg28=)
1g.207472835A>TCA344533727CR2c.1265A>T (p.Asp422Val)
c.1254A>T
c.1634A>T (p.Asp545Val)
c.84A>T (p.Arg28Ser)
 gnomAD v4
1g.207472836T>ACA344533730CR2c.1266T>A (p.Asp422Glu)
c.1255T>A
c.1635T>A (p.Asp545Glu)
c.85T>A (p.Phe29Ile)
1g.207472836T>CCA423138922CR2c.1266T>C (p.Asp422=)
c.1255T>C
c.1635T>C (p.Asp545=)
c.85T>C (p.Phe29Leu)
 COSMIC
1g.207472836T>GCA344533732CR2c.1266T>G (p.Asp422Glu)
c.1255T>G
c.1635T>G (p.Asp545Glu)
c.85T>G (p.Phe29Val)
1g.207472837T>ACA344533734CR2c.1267T>A (p.Phe423Ile)
c.1256T>A
c.1636T>A (p.Phe546Ile)
c.86T>A (p.Phe29Tyr)
1g.207472837T>CCA344533736CR2c.1267T>C (p.Phe423Leu)
c.1256T>C
c.1636T>C (p.Phe546Leu)
c.86T>C (p.Phe29Ser)
1g.207472837T>GCA344533738CR2c.1267T>G (p.Phe423Val)
c.1256T>G
c.1636T>G (p.Phe546Val)
c.86T>G (p.Phe29Cys)
1g.207472838T>ACA344533741CR2c.1268T>A (p.Phe423Tyr)
c.1257T>A
c.1637T>A (p.Phe546Tyr)
c.87T>A (p.Phe29Leu)
1g.207472838T>CCA344533742CR2c.1268T>C (p.Phe423Ser)
c.1257T>C
c.1637T>C (p.Phe546Ser)
c.87T>C (p.Phe29=)
1g.207472838T>GCA344533744CR2c.1268T>G (p.Phe423Cys)
c.1257T>G
c.1637T>G (p.Phe546Cys)
c.87T>G (p.Phe29Leu)
1g.207472839T>ACA344533746CR2c.1269T>A (p.Phe423Leu)
c.1258T>A
c.1638T>A (p.Phe546Leu)
c.88T>A (p.Ser30Thr)
1g.207472839T>CCA423138923CR2c.1269T>C (p.Phe423=)
c.1258T>C
c.1638T>C (p.Phe546=)
c.88T>C (p.Ser30Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472839T>GCA344533749CR2c.1269T>G (p.Phe423Leu)
c.1258T>G
c.1638T>G (p.Phe546Leu)
c.88T>G (p.Ser30Ala)
1g.207472839T=CA2483411821CR2c.1269T= (p.Phe423=)
c.1258T=
c.1638T= (p.Phe546=)
c.88T= (p.Ser30=)
1g.207472840C>ACA344533751CR2c.1270C>A (p.Pro424Thr)
c.1259C>A
c.1639C>A (p.Pro547Thr)
c.89C>A (p.Ser30Tyr)
1g.207472840C=CA2483411822CR2c.1270C= (p.Pro424=)
c.1259C=
c.1639C= (p.Pro547=)
c.89C= (p.Ser30=)
1g.207472840C>GCA344533754CR2c.1270C>G (p.Pro424Ala)
c.1259C>G
c.1639C>G (p.Pro547Ala)
c.89C>G (p.Ser30Cys)
1g.207472840C>TCA344533756CR2c.1270C>T (p.Pro424Ser)
c.1259C>T
c.1639C>T (p.Pro547Ser)
c.89C>T (p.Ser30Phe)
 dbSNP
1g.207472841C>ACA344533758CR2c.1271C>A (p.Pro424Gln)
c.1260C>A
c.1640C>A (p.Pro547Gln)
c.90C>A (p.Ser30=)
1g.207472841C>GCA344533762CR2c.1271C>G (p.Pro424Arg)
c.1260C>G
c.1640C>G (p.Pro547Arg)
c.90C>G (p.Ser30=)
1g.207472841C>TCA344533759CR2c.1271C>T (p.Pro424Leu)
c.1260C>T
c.1640C>T (p.Pro547Leu)
c.90C>T (p.Ser30=)
1g.207472842A=CA2483411823CR2c.1272A= (p.Pro424=)
c.1261A=
c.1641A= (p.Pro547=)
c.91A= (p.Ile31=)
1g.207472842A>CCA423138924CR2c.1272A>C (p.Pro424=)
c.1261A>C
c.1641A>C (p.Pro547=)
c.91A>C (p.Ile31Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472842A>GCA423138926CR2c.1272A>G (p.Pro424=)
c.1261A>G
c.1641A>G (p.Pro547=)
c.91A>G (p.Ile31Val)
 dbSNP gnomAD v3 gnomAD v4
1g.207472842A>TCA423138925CR2c.1272A>T (p.Pro424=)
c.1261A>T
c.1641A>T (p.Pro547=)
c.91A>T (p.Ile31Leu)
 dbSNP
1g.207472843T>ACA344533764CR2c.1273T>A (p.Tyr425Asn)
c.1262T>A
c.1642T>A (p.Tyr548Asn)
c.92T>A (p.Ile31Lys)
1g.207472843T>CCA1368782CR2c.1273T>C (p.Tyr425His)
c.1262T>C
c.1642T>C (p.Tyr548His)
c.92T>C (p.Ile31Thr)
 dbSNP ExAC gnomAD v4
1g.207472843T>GCA344533767CR2c.1273T>G (p.Tyr425Asp)
c.1262T>G
c.1642T>G (p.Tyr548Asp)
c.92T>G (p.Ile31Arg)
1g.207472843T=CA1141796550CR2c.1273T= (p.Tyr425=)
c.1262T=
c.1642T= (p.Tyr548=)
c.92T= (p.Ile31=)
1g.207472844A>CCA344533769CR2c.1274A>C (p.Tyr425Ser)
c.1263A>C
c.1643A>C (p.Tyr548Ser)
c.93A>C (p.Ile31=)
1g.207472844A>GCA344533771CR2c.1274A>G (p.Tyr425Cys)
c.1263A>G
c.1643A>G (p.Tyr548Cys)
c.93A>G (p.Ile31Met)
 gnomAD v4
1g.207472844A>TCA344533772CR2c.1274A>T (p.Tyr425Phe)
c.1263A>T
c.1643A>T (p.Tyr548Phe)
c.93A>T (p.Ile31=)
1g.207472845T>ACA344533775CR2c.1275T>A (p.Tyr425Ter)
c.1264T>A
c.1644T>A (p.Tyr548Ter)
c.94T>A (p.Trp32Arg)
1g.207472845T>CCA1368783CR2c.1275T>C (p.Tyr425=)
c.1264T>C
c.1644T>C (p.Tyr548=)
c.94T>C (p.Trp32Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472845T>GCA344533777CR2c.1275T>G (p.Tyr425Ter)
c.1264T>G
c.1644T>G (p.Tyr548Ter)
c.94T>G (p.Trp32Gly)
1g.207472845T=CA2483411824CR2c.1275T= (p.Tyr425=)
c.1264T=
c.1644T= (p.Tyr548=)
c.94T= (p.Trp32=)
1g.207472845_207472846delinsTGCA2483411825CR2c.1275_1276delinsTG (p.Tyr425=)
c.1264_1265delinsTG
c.1644_1645delinsTG (p.Tyr548=)
c.94_95delinsTG (p.Trp32=)
1g.207472846G>ACA344533780CR2c.1276G>A (p.Gly426Arg)
c.1265G>A
c.1645G>A (p.Gly549Arg)
c.95G>A (p.Trp32Ter)
1g.207472846G>CCA344533782CR2c.1276G>C (p.Gly426Arg)
c.1265G>C
c.1645G>C (p.Gly549Arg)
c.95G>C (p.Trp32Ser)
1g.207472846G>TCA344533783CR2c.1276G>T (p.Gly426Ter)
c.1265G>T
c.1645G>T (p.Gly549Ter)
c.95G>T (p.Trp32Leu)
1g.207472847delCA1139656517CR2c.1277del (p.Gly426GlufsTer?)
c.1266del
c.1646del (p.Gly549GlufsTer?)
c.96del (p.Trp32Ter)
 ClinVar dbSNP
1g.207472847G>ACA344533790CR2c.1277G>A (p.Gly426Glu)
c.1266G>A
c.1646G>A (p.Gly549Glu)
c.96G>A (p.Trp32Ter)
 COSMIC
1g.207472847G>CCA344533788CR2c.1277G>C (p.Gly426Ala)
c.1266G>C
c.1646G>C (p.Gly549Ala)
c.96G>C (p.Trp32Cys)
1g.207472847G>TCA344533786CR2c.1277G>T (p.Gly426Val)
c.1266G>T
c.1646G>T (p.Gly549Val)
c.96G>T (p.Trp32Cys)
1g.207472848A=CA2483411826CR2c.1278A= (p.Gly426=)
c.1267A=
c.1647A= (p.Gly549=)
c.97A= (p.Asn33=)
1g.207472848A>CCA36652110CR2c.1278A>C (p.Gly426=)
c.1267A>C
c.1647A>C (p.Gly549=)
c.97A>C (p.Asn33His)
 dbSNP gnomAD v4
1g.207472848A>GCA423138927CR2c.1278A>G (p.Gly426=)
c.1267A>G
c.1647A>G (p.Gly549=)
c.97A>G (p.Asn33Asp)
1g.207472848A>TCA423138928CR2c.1278A>T (p.Gly426=)
c.1267A>T
c.1647A>T (p.Gly549=)
c.97A>T (p.Asn33Tyr)
1g.207472849A=CA2483411827CR2c.1279A= (p.Thr427=)
c.1268A=
c.1648A= (p.Thr550=)
c.98A= (p.Asn33=)
1g.207472849A>CCA344533792CR2c.1279A>C (p.Thr427Pro)
c.1268A>C
c.1648A>C (p.Thr550Pro)
c.98A>C (p.Asn33Thr)
1g.207472849A>GCA344533793CR2c.1279A>G (p.Thr427Ala)
c.1268A>G
c.1648A>G (p.Thr550Ala)
c.98A>G (p.Asn33Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.207472849A>TCA344533795CR2c.1279A>T (p.Thr427Ser)
c.1268A>T
c.1648A>T (p.Thr550Ser)
c.98A>T (p.Asn33Ile)
1g.207472850C>ACA1368784CR2c.1280C>A (p.Thr427Asn)
c.1269C>A
c.1649C>A (p.Thr550Asn)
c.99C>A (p.Asn33Lys)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
1g.207472850C=CA2483411828CR2c.1280C= (p.Thr427=)
c.1269C=
c.1649C= (p.Thr550=)
c.99C= (p.Asn33=)
1g.207472850C>GCA344533798CR2c.1280C>G (p.Thr427Ser)
c.1269C>G
c.1649C>G (p.Thr550Ser)
c.99C>G (p.Asn33Lys)
1g.207472850C>TCA344533800CR2c.1280C>T (p.Thr427Ile)
c.1269C>T
c.1649C>T (p.Thr550Ile)
c.99C>T (p.Asn33=)
1g.207472851C>ACA423138930CR2c.1281C>A (p.Thr427=)
c.1270C>A
c.1650C>A (p.Thr550=)
c.100C>A (p.His34Asn)
1g.207472851C=CA1143695599CR2c.1281C= (p.Thr427=)
c.1270C=
c.1650C= (p.Thr550=)
c.100C= (p.His34=)
1g.207472851C>GCA423138929CR2c.1281C>G (p.Thr427=)
c.1270C>G
c.1650C>G (p.Thr550=)
c.100C>G (p.His34Asp)
1g.207472851C>TCA36652113CR2c.1281C>T (p.Thr427=)
c.1270C>T
c.1650C>T (p.Thr550=)
c.100C>T (p.His34Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.207472852A>CCA344533803CR2c.1282A>C (p.Thr428Pro)
c.1271A>C
c.1651A>C (p.Thr551Pro)
c.101A>C (p.His34Pro)
1g.207472852A>GCA344533805CR2c.1282A>G (p.Thr428Ala)
c.1271A>G
c.1651A>G (p.Thr551Ala)
c.101A>G (p.His34Arg)
1g.207472852A>TCA344533807CR2c.1282A>T (p.Thr428Ser)
c.1271A>T
c.1651A>T (p.Thr551Ser)
c.101A>T (p.His34Leu)
1g.207472853C>ACA344533809CR2c.1283C>A (p.Thr428Lys)
c.1272C>A
c.1652C>A (p.Thr551Lys)
c.102C>A (p.His34Gln)
1g.207472853C=CA2483411829CR2c.1283C= (p.Thr428=)
c.1272C=
c.1652C= (p.Thr551=)
c.102C= (p.His34=)
1g.207472853C>GCA344533811CR2c.1283C>G (p.Thr428Arg)
c.1272C>G
c.1652C>G (p.Thr551Arg)
c.102C>G (p.His34Gln)
 COSMIC
1g.207472853C>TCA1368785CR2c.1283C>T (p.Thr428Met)
c.1272C>T
c.1652C>T (p.Thr551Met)
c.102C>T (p.His34=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.207472853_207472854dupCA2650263601CR2c.1283_1284dup (p.Val429ArgfsTer?)
c.1272_1273dup
c.1652_1653dup (p.Val552ArgfsTer?)
c.102_103dup (p.Gly35AlafsTer?)
 gnomAD v4
1g.207472854G>ACA36652116CR2c.1284G>A (p.Thr428=)
c.1273G>A
c.1653G>A (p.Thr551=)
c.103G>A (p.Gly35Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472854G>CCA423138931CR2c.1284G>C (p.Thr428=)
c.1273G>C
c.1653G>C (p.Thr551=)
c.103G>C (p.Gly35Arg)
1g.207472854G=CA1143918844CR2c.1284G= (p.Thr428=)
c.1273G=
c.1653G= (p.Thr551=)
c.103G= (p.Gly35=)
1g.207472854G>TCA423138932CR2c.1284G>T (p.Thr428=)
c.1273G>T
c.1653G>T (p.Thr551=)
c.103G>T (p.Gly35Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.207472855G>ACA1368786CR2c.1285G>A (p.Val429Ile)
c.1274G>A
c.1654G>A (p.Val552Ile)
c.104G>A (p.Gly35Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472855G>CCA344533816CR2c.1285G>C (p.Val429Leu)
c.1274G>C
c.1654G>C (p.Val552Leu)
c.104G>C (p.Gly35Ala)
1g.207472855G=CA1148460110CR2c.1285G= (p.Val429=)
c.1274G=
c.1654G= (p.Val552=)
c.104G= (p.Gly35=)
1g.207472855G>TCA344533819CR2c.1285G>T (p.Val429Phe)
c.1274G>T
c.1654G>T (p.Val552Phe)
c.104G>T (p.Gly35Val)
1g.207472856T>ACA344533822CR2c.1286T>A (p.Val429Asp)
c.1275T>A
c.1655T>A (p.Val552Asp)
c.105T>A (p.Gly35=)
1g.207472856T>CCA344533826CR2c.1286T>C (p.Val429Ala)
c.1275T>C
c.1655T>C (p.Val552Ala)
c.105T>C (p.Gly35=)
 ClinVar dbSNP
1g.207472856T>GCA344533824CR2c.1286T>G (p.Val429Gly)
c.1275T>G
c.1655T>G (p.Val552Gly)
c.105T>G (p.Gly35=)
1g.207472857C>ACA423138933CR2c.1287C>A (p.Val429=)
c.1276C>A
c.1656C>A (p.Val552=)
c.106C>A (p.His36Asn)
1g.207472857C>GCA423138934CR2c.1287C>G (p.Val429=)
c.1276C>G
c.1656C>G (p.Val552=)
c.106C>G (p.His36Asp)
1g.207472857C>TCA423138935CR2c.1287C>T (p.Val429=)
c.1276C>T
c.1656C>T (p.Val552=)
c.106C>T (p.His36Tyr)
1g.207472858A=CA2483411830CR2c.1288A= (p.Thr430=)
c.1277A=
c.1657A= (p.Thr553=)
c.107A= (p.His36=)
1g.207472858A>CCA344533828CR2c.1288A>C (p.Thr430Pro)
c.1277A>C
c.1657A>C (p.Thr553Pro)
c.107A>C (p.His36Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.207472858A>GCA344533830CR2c.1288A>G (p.Thr430Ala)
c.1277A>G
c.1657A>G (p.Thr553Ala)
c.107A>G (p.His36Arg)
1g.207472858A>TCA344533832CR2c.1288A>T (p.Thr430Ser)
c.1277A>T
c.1657A>T (p.Thr553Ser)
c.107A>T (p.His36Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472859C>ACA344533834CR2c.1289C>A (p.Thr430Asn)
c.1278C>A
c.1658C>A (p.Thr553Asn)
c.108C>A (p.His36Gln)
1g.207472859C=CA2483411831CR2c.1289C= (p.Thr430=)
c.1278C=
c.1658C= (p.Thr553=)
c.108C= (p.His36=)
1g.207472859C>GCA344533836CR2c.1289C>G (p.Thr430Ser)
c.1278C>G
c.1658C>G (p.Thr553Ser)
c.108C>G (p.His36Gln)
1g.207472859C>TCA36652118CR2c.1289C>T (p.Thr430Ile)
c.1278C>T
c.1658C>T (p.Thr553Ile)
c.108C>T (p.His36=)
 dbSNP gnomAD v2 gnomAD v4
1g.207472860T>ACA423138936CR2c.1290T>A (p.Thr430=)
c.1279T>A
c.1659T>A (p.Thr553=)
c.109T>A (p.Leu37Ile)
1g.207472860T>CCA423138937CR2c.1290T>C (p.Thr430=)
c.1279T>C
c.1659T>C (p.Thr553=)
c.109T>C (p.Leu37=)
1g.207472860T>GCA423138938CR2c.1290T>G (p.Thr430=)
c.1279T>G
c.1659T>G (p.Thr553=)
c.109T>G (p.Leu37Val)
1g.207472860T=CA2483411832CR2c.1290T= (p.Thr430=)
c.1279T=
c.1659T= (p.Thr553=)
c.109T= (p.Leu37=)
1g.207472860_207472861insGCA891842873CR2c.1290_1291insG (p.Tyr431ValfsTer4)
c.1279_1280insG
c.1659_1660insG (p.Tyr554ValfsTer4)
c.109_110insG (p.Leu37CysfsTer?)
 ClinVar dbSNP
1g.207472861T>ACA344533839CR2c.1291T>A (p.Tyr431Asn)
c.1280T>A
c.1660T>A (p.Tyr554Asn)
c.110T>A (p.Leu37Ter)
1g.207472861T>CCA344533841CR2c.1291T>C (p.Tyr431His)
c.1280T>C
c.1660T>C (p.Tyr554His)
c.110T>C (p.Leu37Ser)
1g.207472861T>GCA344533843CR2c.1291T>G (p.Tyr431Asp)
c.1280T>G
c.1660T>G (p.Tyr554Asp)
c.110T>G (p.Leu37Ter)
1g.207472862A=CA2483411833CR2c.1292A= (p.Tyr431=)
c.1281A=
c.1661A= (p.Tyr554=)
c.111A= (p.Leu37=)
1g.207472862A>CCA344533845CR2c.1292A>C (p.Tyr431Ser)
c.1281A>C
c.1661A>C (p.Tyr554Ser)
c.111A>C (p.Leu37Phe)
1g.207472862A>GCA344533847CR2c.1292A>G (p.Tyr431Cys)
c.1281A>G
c.1661A>G (p.Tyr554Cys)
c.111A>G (p.Leu37=)
 dbSNP gnomAD v4
1g.207472862A>TCA344533849CR2c.1292A>T (p.Tyr431Phe)
c.1281A>T
c.1661A>T (p.Tyr554Phe)
c.111A>T (p.Leu37Phe)
1g.207472863C>ACA344533851CR2c.1293C>A (p.Tyr431Ter)
c.1282C>A
c.1662C>A (p.Tyr554Ter)
c.112C>A (p.His38Asn)
1g.207472863C>GCA344533852CR2c.1293C>G (p.Tyr431Ter)
c.1282C>G
c.1662C>G (p.Tyr554Ter)
c.112C>G (p.His38Asp)
1g.207472863C>TCA423138939CR2c.1293C>T (p.Tyr431=)
c.1282C>T
c.1662C>T (p.Tyr554=)
c.112C>T (p.His38Tyr)
 gnomAD v4
1g.207472864A>CCA344533855CR2c.1294A>C (p.Thr432Pro)
c.1283A>C
c.1663A>C (p.Thr555Pro)
c.113A>C (p.His38Pro)
1g.207472864A>GCA344533857CR2c.1294A>G (p.Thr432Ala)
c.1283A>G
c.1663A>G (p.Thr555Ala)
c.113A>G (p.His38Arg)
 gnomAD v4
1g.207472864A>TCA344533859CR2c.1294A>T (p.Thr432Ser)
c.1283A>T
c.1663A>T (p.Thr555Ser)
c.113A>T (p.His38Leu)
1g.207472865C>ACA344533862CR2c.1295C>A (p.Thr432Lys)
c.1284C>A
c.1664C>A (p.Thr555Lys)
c.114C>A (p.His38Gln)
1g.207472865C=CA2483411834CR2c.1295C= (p.Thr432=)
c.1284C=
c.1664C= (p.Thr555=)
c.114C= (p.His38=)
1g.207472865C>GCA344533864CR2c.1295C>G (p.Thr432Arg)
c.1284C>G
c.1664C>G (p.Thr555Arg)
c.114C>G (p.His38Gln)
1g.207472865C>TCA1368787CR2c.1295C>T (p.Thr432Ile)
c.1284C>T
c.1664C>T (p.Thr555Ile)
c.114C>T (p.His38=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472866A=CA2483411835CR2c.1296A= (p.Thr432=)
c.1285A=
c.1665A= (p.Thr555=)
c.115A= (p.Met39=)
1g.207472866A>CCA423138940CR2c.1296A>C (p.Thr432=)
c.1285A>C
c.1665A>C (p.Thr555=)
c.115A>C (p.Met39Leu)
1g.207472866A>GCA1368788CR2c.1296A>G (p.Thr432=)
c.1285A>G
c.1665A>G (p.Thr555=)
c.115A>G (p.Met39Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472866A>TCA423138941CR2c.1296A>T (p.Thr432=)
c.1285A>T
c.1665A>T (p.Thr555=)
c.115A>T (p.Met39Leu)
 ClinVar dbSNP
1g.207472867T>ACA344533869CR2c.1297T>A (p.Cys433Ser)
c.1286T>A
c.1666T>A (p.Cys556Ser)
c.116T>A (p.Met39Lys)
1g.207472867T>CCA344533870CR2c.1297T>C (p.Cys433Arg)
c.1286T>C
c.1666T>C (p.Cys556Arg)
c.116T>C (p.Met39Thr)
1g.207472867T>GCA344533872CR2c.1297T>G (p.Cys433Gly)
c.1286T>G
c.1666T>G (p.Cys556Gly)
c.116T>G (p.Met39Arg)
1g.207472868G>ACA344533874CR2c.1298G>A (p.Cys433Tyr)
c.1287G>A
c.1667G>A (p.Cys556Tyr)
c.117G>A (p.Met39Ile)
1g.207472868G>CCA344533876CR2c.1298G>C (p.Cys433Ser)
c.1287G>C
c.1667G>C (p.Cys556Ser)
c.117G>C (p.Met39Ile)
1g.207472868G>TCA344533878CR2c.1298G>T (p.Cys433Phe)
c.1287G>T
c.1667G>T (p.Cys556Phe)
c.117G>T (p.Met39Ile)
1g.207472869T>ACA344533880CR2c.1299T>A (p.Cys433Ter)
c.1288T>A
c.1668T>A (p.Cys556Ter)
c.118T>A (p.Ter40Lys)
1g.207472869T>CCA1368789CR2c.1299T>C (p.Cys433=)
c.1288T>C
c.1668T>C (p.Cys556=)
c.118T>C (p.Ter40Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472869T>GCA344533882CR2c.1299T>G (p.Cys433Trp)
c.1288T>G
c.1668T>G (p.Cys556Trp)
c.118T>G (p.Ter40Glu)
1g.207472869T=CA1148243934CR2c.1299T= (p.Cys433=)
c.1288T=
c.1668T= (p.Cys556=)
c.118T= (p.Ter40=)
1g.207472870A>CCA344533885CR2c.1300A>C (p.Asn434His)
c.1289A>C
c.1669A>C (p.Asn557His)
c.119A>C (p.Ter40Ser)
1g.207472870A>GCA344533887CR2c.1300A>G (p.Asn434Asp)
c.1289A>G
c.1669A>G (p.Asn557Asp)
c.119A>G (p.Ter40=)
1g.207472870A>TCA344533889CR2c.1300A>T (p.Asn434Tyr)
c.1289A>T
c.1669A>T (p.Asn557Tyr)
c.119A>T (p.Ter40Leu)
 COSMIC
1g.207472871A=CA2483411836CR2c.1301A= (p.Asn434=)
c.1290A=
c.1670A= (p.Asn557=)
c.120A= (p.Ter40=)
1g.207472871A>CCA344533891CR2c.1301A>C (p.Asn434Thr)
c.1290A>C
c.1670A>C (p.Asn557Thr)
c.120A>C (p.Ter40Tyr)
1g.207472871A>GCA344533893CR2c.1301A>G (p.Asn434Ser)
c.1290A>G
c.1670A>G (p.Asn557Ser)
c.120A>G (p.Ter40=)
1g.207472871A>TCA36652126CR2c.1301A>T (p.Asn434Ile)
c.1290A>T
c.1670A>T (p.Asn557Ile)
c.120A>T (p.Ter40Tyr)
 dbSNP gnomAD v4
1g.207472872C>ACA1368790CR2c.1302C>A (p.Asn434Lys)
c.1291C>A
c.1671C>A (p.Asn557Lys)
c.121C>A (n.121C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472872C=CA2483411837CR2c.1302C= (p.Asn434=)
c.1291C=
c.1671C= (p.Asn557=)
c.121C= (n.121C=)
1g.207472872C>GCA344533897CR2c.1302C>G (p.Asn434Lys)
c.1291C>G
c.1671C>G (p.Asn557Lys)
c.121C>G (n.121C>G)
1g.207472872C>TCA423138942CR2c.1302C>T (p.Asn434=)
c.1291C>T
c.1671C>T (p.Asn557=)
c.121C>T (n.121C>T)
1g.207472873C>ACA344533899CR2c.1303C>A (p.Pro435Thr)
c.1292C>A
c.1672C>A (p.Pro558Thr)
c.122C>A (n.122C>A)
1g.207472873C>GCA344533901CR2c.1303C>G (p.Pro435Ala)
c.1292C>G
c.1672C>G (p.Pro558Ala)
c.122C>G (n.122C>G)
 gnomAD v4
1g.207472873C>TCA344533903CR2c.1303C>T (p.Pro435Ser)
c.1292C>T
c.1672C>T (p.Pro558Ser)
c.122C>T (n.122C>T)
1g.207472874C>ACA344533909CR2c.1304C>A (p.Pro435His)
c.1293C>A
c.1673C>A (p.Pro558His)
c.123C>A (n.123C>A)
 ClinVar dbSNP gnomAD v4
1g.207472874C=CA2483411838CR2c.1304C= (p.Pro435=)
c.1293C=
c.1673C= (p.Pro558=)
c.123C= (n.123C=)
1g.207472874C>GCA344533907CR2c.1304C>G (p.Pro435Arg)
c.1293C>G
c.1673C>G (p.Pro558Arg)
c.123C>G (n.123C>G)
 dbSNP
1g.207472874C>TCA344533905CR2c.1304C>T (p.Pro435Leu)
c.1293C>T
c.1673C>T (p.Pro558Leu)
c.123C>T (n.123C>T)
 COSMIC
1g.207472875T>ACA423138943CR2c.1305T>A (p.Pro435=)
c.1294T>A
c.1674T>A (p.Pro558=)
c.124T>A (n.124T>A)
1g.207472875T>CCA423138944CR2c.1305T>C (p.Pro435=)
c.1294T>C
c.1674T>C (p.Pro558=)
c.124T>C (n.124T>C)
1g.207472875T>GCA423138945CR2c.1305T>G (p.Pro435=)
c.1294T>G
c.1674T>G (p.Pro558=)
c.124T>G (n.124T>G)
1g.207472876G>ACA344533911CR2c.1306G>A (p.Gly436Arg)
c.1295G>A
c.1675G>A (p.Gly559Arg)
c.125G>A (n.125G>A)
1g.207472876G>CCA344533913CR2c.1306G>C (p.Gly436Arg)
c.1295G>C
c.1675G>C (p.Gly559Arg)
c.125G>C (n.125G>C)
1g.207472876G>TCA344533915CR2c.1306G>T (p.Gly436Trp)
c.1295G>T
c.1675G>T (p.Gly559Trp)
c.125G>T (n.125G>T)
1g.207472877G>ACA1368791CR2c.1307G>A (p.Gly436Glu)
c.1296G>A
c.1676G>A (p.Gly559Glu)
c.126G>A (n.126G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472877G>CCA344533918CR2c.1307G>C (p.Gly436Ala)
c.1296G>C
c.1676G>C (p.Gly559Ala)
c.126G>C (n.126G>C)
 dbSNP
1g.207472877G=CA1141940511CR2c.1307G= (p.Gly436=)
c.1296G=
c.1676G= (p.Gly559=)
c.126G= (n.126G=)
1g.207472877G>TCA344533919CR2c.1307G>T (p.Gly436Val)
c.1296G>T
c.1676G>T (p.Gly559Val)
c.126G>T (n.126G>T)
1g.207472878G>ACA423138946CR2c.1308G>A (p.Gly436=)
c.1297G>A
c.1677G>A (p.Gly559=)
c.127G>A (n.127G>A)
1g.207472878G>CCA423138947CR2c.1308G>C (p.Gly436=)
c.1297G>C
c.1677G>C (p.Gly559=)
c.127G>C (n.127G>C)
1g.207472878G>TCA423138948CR2c.1308G>T (p.Gly436=)
c.1297G>T
c.1677G>T (p.Gly559=)
c.127G>T (n.127G>T)
 gnomAD v4
1g.207472879C>ACA344533922CR2c.1309C>A (p.Pro437Thr)
c.1298C>A
c.1678C>A (p.Pro560Thr)
c.128C>A (n.128C>A)
 ClinVar dbSNP gnomAD v4
1g.207472879C=CA2483411839CR2c.1309C= (p.Pro437=)
c.1298C=
c.1678C= (p.Pro560=)
c.128C= (n.128C=)
1g.207472879C>GCA344533924CR2c.1309C>G (p.Pro437Ala)
c.1298C>G
c.1678C>G (p.Pro560Ala)
c.128C>G (n.128C>G)
1g.207472879C>TCA344533925CR2c.1309C>T (p.Pro437Ser)
c.1298C>T
c.1678C>T (p.Pro560Ser)
c.128C>T (n.128C>T)
 gnomAD v4
1g.207472880C>ACA344533928CR2c.1310C>A (p.Pro437Gln)
c.1299C>A
c.1679C>A (p.Pro560Gln)
c.129C>A (n.129C>A)
1g.207472880C>GCA344533930CR2c.1310C>G (p.Pro437Arg)
c.1299C>G
c.1679C>G (p.Pro560Arg)
c.129C>G (n.129C>G)
1g.207472880C>TCA344533931CR2c.1310C>T (p.Pro437Leu)
c.1299C>T
c.1679C>T (p.Pro560Leu)
c.129C>T (n.129C>T)
1g.207472881A>CCA423138949CR2c.1311A>C (p.Pro437=)
c.1300A>C
c.1680A>C (p.Pro560=)
c.130A>C (n.130A>C)
1g.207472881A>GCA423138950CR2c.1311A>G (p.Pro437=)
c.1300A>G
c.1680A>G (p.Pro560=)
c.130A>G (n.130A>G)
 gnomAD v4
1g.207472881A>TCA423138951CR2c.1311A>T (p.Pro437=)
c.1300A>T
c.1680A>T (p.Pro560=)
c.130A>T (n.130A>T)

Number of alleles fetched