Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.149482940_149483166delCA2695236488IDSc.1234_1460del (p.Gly412HisfsTer11)
c.601_827del (p.Gly201HisfsTer11)
c.964_1190del (p.Gly322HisfsTer11)
Xg.149482949_149483122delCA2580101611IDSc.1277_1450del (p.Ser426_Asp484delinsTyr)
c.644_817del (p.Ser215_Asp273delinsTyr)
c.1007_1180del (p.Ser336_Asp394delinsTyr)
 ClinVar
Xg.149483059A=CA2465004034IDSc.1340T= (p.Leu447=)
c.707T= (p.Leu236=)
c.1070T= (p.Leu357=)
Xg.149483059A>CCA414518299IDSc.1340T>G (p.Leu447Trp)
c.707T>G (p.Leu236Trp)
c.1070T>G (p.Leu357Trp)
Xg.149483059A>GCA414518300IDSc.1340T>C (p.Leu447Ser)
c.707T>C (p.Leu236Ser)
c.1070T>C (p.Leu357Ser)
Xg.149483059A>TCA414518301IDSc.1340T>A (p.Leu447Ter)
c.707T>A (p.Leu236Ter)
c.1070T>A (p.Leu357Ter)
 ClinVar dbSNP
Xg.149483059_149483061dupCA2694908956IDSc.1338_1340dup (p.Asp446_Leu447insPhe)
c.705_707dup (p.Asp235_Leu236insPhe)
c.1068_1070dup (p.Asp356_Leu357insPhe)
 gnomAD v4
Xg.149483060A>CCA414518302IDSc.1339T>G (p.Leu447Val)
c.706T>G (p.Leu236Val)
c.1069T>G (p.Leu357Val)
Xg.149483060A>GCA519173967IDSc.1339T>C (p.Leu447=)
c.706T>C (p.Leu236=)
c.1069T>C (p.Leu357=)
Xg.149483060A>TCA414518303IDSc.1339T>A (p.Leu447Met)
c.706T>A (p.Leu236Met)
c.1069T>A (p.Leu357Met)
Xg.149483062_149483084delCA2511282242IDSc.1317_1339del (p.Lys440GlyfsTer9)
c.684_706del (p.Lys229GlyfsTer9)
c.1047_1069del (p.Lys350GlyfsTer9)
Xg.149483061G>ACA519173969IDSc.1338C>T (p.Asp446=)
c.705C>T (p.Asp235=)
c.1068C>T (p.Asp356=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.149483061G>CCA414518304IDSc.1338C>G (p.Asp446Glu)
c.705C>G (p.Asp235Glu)
c.1068C>G (p.Asp356Glu)
Xg.149483061G=CA2465004035IDSc.1338C= (p.Asp446=)
c.705C= (p.Asp235=)
c.1068C= (p.Asp356=)
Xg.149483061G>TCA414518305IDSc.1338C>A (p.Asp446Glu)
c.705C>A (p.Asp235Glu)
c.1068C>A (p.Asp356Glu)
Xg.149483062T>ACA414518308IDSc.1337A>T (p.Asp446Val)
c.704A>T (p.Asp235Val)
c.1067A>T (p.Asp356Val)
Xg.149483062T>CCA414518307IDSc.1337A>G (p.Asp446Gly)
c.704A>G (p.Asp235Gly)
c.1067A>G (p.Asp356Gly)
Xg.149483062T>GCA414518306IDSc.1337A>C (p.Asp446Ala)
c.704A>C (p.Asp235Ala)
c.1067A>C (p.Asp356Ala)
Xg.149483062dupCA2695236511IDSc.1337dup (p.Asp446GlufsTer11)
c.704dup (p.Asp235GlufsTer11)
c.1067dup (p.Asp356GlufsTer11)
Xg.149483063C>ACA414518309IDSc.1336G>T (p.Asp446Tyr)
c.703G>T (p.Asp235Tyr)
c.1066G>T (p.Asp356Tyr)
 COSMIC
Xg.149483063C>GCA414518311IDSc.1336G>C (p.Asp446His)
c.703G>C (p.Asp235His)
c.1066G>C (p.Asp356His)
Xg.149483063C>TCA414518310IDSc.1336G>A (p.Asp446Asn)
c.703G>A (p.Asp235Asn)
c.1066G>A (p.Asp356Asn)
Xg.149483064A=CA2465004036IDSc.1335T= (p.Arg445=)
c.702T= (p.Arg234=)
c.1065T= (p.Arg355=)
Xg.149483064A>CCA519173971IDSc.1335T>G (p.Arg445=)
c.702T>G (p.Arg234=)
c.1065T>G (p.Arg355=)
Xg.149483064A>GCA519173973IDSc.1335T>C (p.Arg445=)
c.702T>C (p.Arg234=)
c.1065T>C (p.Arg355=)
 ClinVar dbSNP
Xg.149483064A>TCA519173975IDSc.1335T>A (p.Arg445=)
c.702T>A (p.Arg234=)
c.1065T>A (p.Arg355=)
Xg.149483065C>ACA10537461IDSc.1334G>T (p.Arg445Leu)
c.701G>T (p.Arg234Leu)
c.1064G>T (p.Arg355Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483065C=CA2465004037IDSc.1334G= (p.Arg445=)
c.701G= (p.Arg234=)
c.1064G= (p.Arg355=)
Xg.149483065C>GCA414518312IDSc.1334G>C (p.Arg445Pro)
c.701G>C (p.Arg234Pro)
c.1064G>C (p.Arg355Pro)
Xg.149483065C>TCA10537460IDSc.1334G>A (p.Arg445His)
c.701G>A (p.Arg234His)
c.1064G>A (p.Arg355His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483066G>ACA414518313IDSc.1333C>T (p.Arg445Cys)
c.700C>T (p.Arg234Cys)
c.1063C>T (p.Arg355Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483066G>CCA414518314IDSc.1333C>G (p.Arg445Gly)
c.700C>G (p.Arg234Gly)
c.1063C>G (p.Arg355Gly)
Xg.149483066G=CA2465004038IDSc.1333C= (p.Arg445=)
c.700C= (p.Arg234=)
c.1063C= (p.Arg355=)
Xg.149483066G>TCA337035531IDSc.1333C>A (p.Arg445Ser)
c.700C>A (p.Arg234Ser)
c.1063C>A (p.Arg355Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483067G>ACA519173978IDSc.1332C>T (p.Phe444=)
c.699C>T (p.Phe233=)
c.1062C>T (p.Phe354=)
Xg.149483067G>CCA414518316IDSc.1332C>G (p.Phe444Leu)
c.699C>G (p.Phe233Leu)
c.1062C>G (p.Phe354Leu)
Xg.149483067G>TCA414518315IDSc.1332C>A (p.Phe444Leu)
c.699C>A (p.Phe233Leu)
c.1062C>A (p.Phe354Leu)
Xg.149483068A=CA2465004039IDSc.1331T= (p.Phe444=)
c.698T= (p.Phe233=)
c.1061T= (p.Phe354=)
Xg.149483068A>CCA414518317IDSc.1331T>G (p.Phe444Cys)
c.698T>G (p.Phe233Cys)
c.1061T>G (p.Phe354Cys)
Xg.149483068A>GCA414518318IDSc.1331T>C (p.Phe444Ser)
c.698T>C (p.Phe233Ser)
c.1061T>C (p.Phe354Ser)
 dbSNP
Xg.149483068A>TCA414518319IDSc.1331T>A (p.Phe444Tyr)
c.698T>A (p.Phe233Tyr)
c.1061T>A (p.Phe354Tyr)
Xg.149483069A>CCA414518320IDSc.1330T>G (p.Phe444Val)
c.697T>G (p.Phe233Val)
c.1060T>G (p.Phe354Val)
Xg.149483069A>GCA414518321IDSc.1330T>C (p.Phe444Leu)
c.697T>C (p.Phe233Leu)
c.1060T>C (p.Phe354Leu)
Xg.149483069A>TCA414518322IDSc.1330T>A (p.Phe444Ile)
c.697T>A (p.Phe233Ile)
c.1060T>A (p.Phe354Ile)
Xg.149483070T>ACA519173980IDSc.1329A>T (p.Arg443=)
c.696A>T (p.Arg232=)
c.1059A>T (p.Arg353=)
Xg.149483070T>CCA519173981IDSc.1329A>G (p.Arg443=)
c.696A>G (p.Arg232=)
c.1059A>G (p.Arg353=)
Xg.149483070T>GCA519173982IDSc.1329A>C (p.Arg443=)
c.696A>C (p.Arg232=)
c.1059A>C (p.Arg353=)
Xg.149483071C>ACA414518324IDSc.1328G>T (p.Arg443Leu)
c.695G>T (p.Arg232Leu)
c.1058G>T (p.Arg353Leu)
 dbSNP
Xg.149483071C=CA2465004040IDSc.1328G= (p.Arg443=)
c.695G= (p.Arg232=)
c.1058G= (p.Arg353=)
Xg.149483071C>GCA414518323IDSc.1328G>C (p.Arg443Pro)
c.695G>C (p.Arg232Pro)
c.1058G>C (p.Arg353Pro)
Xg.149483071C>TCA337035532IDSc.1328G>A (p.Arg443Gln)
c.695G>A (p.Arg232Gln)
c.1058G>A (p.Arg353Gln)
 dbSNP gnomAD v4
Xg.149483072G>ACA340985IDSc.1327C>T (p.Arg443Ter)
c.694C>T (p.Arg232Ter)
c.1057C>T (p.Arg353Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.149483072G>CCA414518325IDSc.1327C>G (p.Arg443Gly)
c.694C>G (p.Arg232Gly)
c.1057C>G (p.Arg353Gly)
 ClinVar
Xg.149483072G=CA2465004041IDSc.1327C= (p.Arg443=)
c.694C= (p.Arg232=)
c.1057C= (p.Arg353=)
Xg.149483072G>TCA10537462IDSc.1327C>A (p.Arg443=)
c.694C>A (p.Arg232=)
c.1057C>A (p.Arg353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483073A>CCA414518326IDSc.1326T>G (p.Phe442Leu)
c.693T>G (p.Phe231Leu)
c.1056T>G (p.Phe352Leu)
 dbSNP
Xg.149483073A>GCA519173984IDSc.1326T>C (p.Phe442=)
c.693T>C (p.Phe231=)
c.1056T>C (p.Phe352=)
Xg.149483073A>TCA414518327IDSc.1326T>A (p.Phe442Leu)
c.693T>A (p.Phe231Leu)
c.1056T>A (p.Phe352Leu)
Xg.149483076dupCA2695236513IDSc.1326dup (p.Arg443SerfsTer4)
c.693dup (p.Arg232SerfsTer4)
c.1056dup (p.Arg353SerfsTer4)
Xg.149483074A>CCA414518328IDSc.1325T>G (p.Phe442Cys)
c.692T>G (p.Phe231Cys)
c.1055T>G (p.Phe352Cys)
Xg.149483074A>GCA414518330IDSc.1325T>C (p.Phe442Ser)
c.692T>C (p.Phe231Ser)
c.1055T>C (p.Phe352Ser)
Xg.149483074A>TCA414518331IDSc.1325T>A (p.Phe442Tyr)
c.692T>A (p.Phe231Tyr)
c.1055T>A (p.Phe352Tyr)
Xg.149483075A>CCA414518333IDSc.1324T>G (p.Phe442Val)
c.691T>G (p.Phe231Val)
c.1054T>G (p.Phe352Val)
Xg.149483075A>GCA414518334IDSc.1324T>C (p.Phe442Leu)
c.691T>C (p.Phe231Leu)
c.1054T>C (p.Phe352Leu)
Xg.149483075A>TCA414518335IDSc.1324T>A (p.Phe442Ile)
c.691T>A (p.Phe231Ile)
c.1054T>A (p.Phe352Ile)
Xg.149483076A>CCA414518336IDSc.1323T>G (p.His441Gln)
c.690T>G (p.His230Gln)
c.1053T>G (p.His351Gln)
Xg.149483076A>GCA519173985IDSc.1323T>C (p.His441=)
c.690T>C (p.His230=)
c.1053T>C (p.His351=)
Xg.149483076A>TCA414518337IDSc.1323T>A (p.His441Gln)
c.690T>A (p.His230Gln)
c.1053T>A (p.His351Gln)
Xg.149483077T>ACA414518338IDSc.1322A>T (p.His441Leu)
c.689A>T (p.His230Leu)
c.1052A>T (p.His351Leu)
Xg.149483077T>CCA414518340IDSc.1322A>G (p.His441Arg)
c.689A>G (p.His230Arg)
c.1052A>G (p.His351Arg)
Xg.149483077T>GCA414518339IDSc.1322A>C (p.His441Pro)
c.689A>C (p.His230Pro)
c.1052A>C (p.His351Pro)
Xg.149483078G>ACA414518341IDSc.1321C>T (p.His441Tyr)
c.688C>T (p.His230Tyr)
c.1051C>T (p.His351Tyr)
Xg.149483078G>CCA414518342IDSc.1321C>G (p.His441Asp)
c.688C>G (p.His230Asp)
c.1051C>G (p.His351Asp)
Xg.149483078G>TCA414518343IDSc.1321C>A (p.His441Asn)
c.688C>A (p.His230Asn)
c.1051C>A (p.His351Asn)
Xg.149483079C>ACA414518344IDSc.1320G>T (p.Lys440Asn)
c.687G>T (p.Lys229Asn)
c.1050G>T (p.Lys350Asn)
Xg.149483079C>GCA414518345IDSc.1320G>C (p.Lys440Asn)
c.687G>C (p.Lys229Asn)
c.1050G>C (p.Lys350Asn)
Xg.149483079C>TCA519173986IDSc.1320G>A (p.Lys440=)
c.687G>A (p.Lys229=)
c.1050G>A (p.Lys350=)
 gnomAD v4
Xg.149483080T>ACA414518346IDSc.1319A>T (p.Lys440Met)
c.686A>T (p.Lys229Met)
c.1049A>T (p.Lys350Met)
Xg.149483080T>CCA414518347IDSc.1319A>G (p.Lys440Arg)
c.686A>G (p.Lys229Arg)
c.1049A>G (p.Lys350Arg)
Xg.149483080T>GCA414518348IDSc.1319A>C (p.Lys440Thr)
c.686A>C (p.Lys229Thr)
c.1049A>C (p.Lys350Thr)
Xg.149483081dupCA2695236515IDSc.1319dup (p.His441AlafsTer6)
c.686dup (p.His230AlafsTer6)
c.1049dup (p.His351AlafsTer6)
Xg.149483081T>ACA414518349IDSc.1318A>T (p.Lys440Ter)
c.685A>T (p.Lys229Ter)
c.1048A>T (p.Lys350Ter)
Xg.149483081T>CCA414518350IDSc.1318A>G (p.Lys440Glu)
c.685A>G (p.Lys229Glu)
c.1048A>G (p.Lys350Glu)
Xg.149483081T>GCA414518351IDSc.1318A>C (p.Lys440Gln)
c.685A>C (p.Lys229Gln)
c.1048A>C (p.Lys350Gln)
Xg.149483082delCA2579719105IDSc.1317del (p.Lys440SerfsTer21)
c.684del (p.Lys229SerfsTer21)
c.1047del (p.Lys350SerfsTer21)
Xg.149483082C>ACA519173988IDSc.1317G>T (p.Leu439=)
c.684G>T (p.Leu228=)
c.1047G>T (p.Leu349=)
 ClinVar
Xg.149483082C>GCA519173989IDSc.1317G>C (p.Leu439=)
c.684G>C (p.Leu228=)
c.1047G>C (p.Leu349=)
Xg.149483082C>TCA519173991IDSc.1317G>A (p.Leu439=)
c.684G>A (p.Leu228=)
c.1047G>A (p.Leu349=)
Xg.149483083delCA2499226411IDSc.1316del (p.Leu439ArgfsTer22)
c.683del (p.Leu228ArgfsTer22)
c.1046del (p.Leu349ArgfsTer22)
 ClinVar dbSNP
Xg.149483083A>CCA414518352IDSc.1316T>G (p.Leu439Arg)
c.683T>G (p.Leu228Arg)
c.1046T>G (p.Leu349Arg)
Xg.149483083A>GCA414518353IDSc.1316T>C (p.Leu439Pro)
c.683T>C (p.Leu228Pro)
c.1046T>C (p.Leu349Pro)
Xg.149483083A>TCA414518354IDSc.1316T>A (p.Leu439Gln)
c.683T>A (p.Leu228Gln)
c.1046T>A (p.Leu349Gln)
Xg.149483084G>ACA519173992IDSc.1315C>T (p.Leu439=)
c.682C>T (p.Leu228=)
c.1045C>T (p.Leu349=)
Xg.149483084G>CCA414518355IDSc.1315C>G (p.Leu439Val)
c.682C>G (p.Leu228Val)
c.1045C>G (p.Leu349Val)
 gnomAD v4
Xg.149483084G>TCA414518356IDSc.1315C>A (p.Leu439Met)
c.682C>A (p.Leu228Met)
c.1045C>A (p.Leu349Met)
Xg.149483085A>CCA519173994IDSc.1314T>G (p.Leu438=)
c.681T>G (p.Leu227=)
c.1044T>G (p.Leu348=)
Xg.149483085A>GCA519173996IDSc.1314T>C (p.Leu438=)
c.681T>C (p.Leu227=)
c.1044T>C (p.Leu348=)
Xg.149483085A>TCA519173998IDSc.1314T>A (p.Leu438=)
c.681T>A (p.Leu227=)
c.1044T>A (p.Leu348=)
Xg.149483086A>CCA414518357IDSc.1313T>G (p.Leu438Arg)
c.680T>G (p.Leu227Arg)
c.1043T>G (p.Leu348Arg)
Xg.149483086A>GCA414518358IDSc.1313T>C (p.Leu438Pro)
c.680T>C (p.Leu227Pro)
c.1043T>C (p.Leu348Pro)
Xg.149483086A>TCA414518359IDSc.1313T>A (p.Leu438His)
c.680T>A (p.Leu227His)
c.1043T>A (p.Leu348His)
Xg.149483087G>ACA414518360IDSc.1312C>T (p.Leu438Phe)
c.679C>T (p.Leu227Phe)
c.1042C>T (p.Leu348Phe)
 gnomAD v4
Xg.149483087G>CCA414518361IDSc.1312C>G (p.Leu438Val)
c.679C>G (p.Leu227Val)
c.1042C>G (p.Leu348Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483087G=CA2465004042IDSc.1312C= (p.Leu438=)
c.679C= (p.Leu227=)
c.1042C= (p.Leu348=)
Xg.149483087G>TCA414518362IDSc.1312C>A (p.Leu438Ile)
c.679C>A (p.Leu227Ile)
c.1042C>A (p.Leu348Ile)
Xg.149483088delCA2695236516IDSc.1312del (p.Leu438PhefsTer2)
c.679del (p.Leu227PhefsTer2)
c.1042del (p.Leu348PhefsTer2)
Xg.149483088G>ACA519174000IDSc.1311C>T (p.Asn437=)
c.678C>T (p.Asn226=)
c.1041C>T (p.Asn347=)
Xg.149483088G>CCA414518363IDSc.1311C>G (p.Asn437Lys)
c.678C>G (p.Asn226Lys)
c.1041C>G (p.Asn347Lys)
Xg.149483088G=CA2465004043IDSc.1311C= (p.Asn437=)
c.678C= (p.Asn226=)
c.1041C= (p.Asn347=)
Xg.149483088G>TCA414518364IDSc.1311C>A (p.Asn437Lys)
c.678C>A (p.Asn226Lys)
c.1041C>A (p.Asn347Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483089T>ACA414518365IDSc.1310A>T (p.Asn437Ile)
c.677A>T (p.Asn226Ile)
c.1040A>T (p.Asn347Ile)
Xg.149483089T>CCA414518366IDSc.1310A>G (p.Asn437Ser)
c.677A>G (p.Asn226Ser)
c.1040A>G (p.Asn347Ser)
Xg.149483089T>GCA414518367IDSc.1310A>C (p.Asn437Thr)
c.677A>C (p.Asn226Thr)
c.1040A>C (p.Asn347Thr)
Xg.149483090T>ACA414518368IDSc.1309A>T (p.Asn437Tyr)
c.676A>T (p.Asn226Tyr)
n.416A>T
c.1039A>T (p.Asn347Tyr)
Xg.149483090T>CCA414518370IDSc.1309A>G (p.Asn437Asp)
c.676A>G (p.Asn226Asp)
n.416A>G
c.1039A>G (p.Asn347Asp)
Xg.149483090T>GCA414518369IDSc.1309A>C (p.Asn437His)
c.676A>C (p.Asn226His)
n.416A>C
c.1039A>C (p.Asn347His)
Xg.149483091C>ACA414518371IDSc.1308G>T (p.Lys436Asn)
c.675G>T (p.Lys225Asn)
n.415G>T
c.1038G>T (p.Lys346Asn)
Xg.149483091C>GCA414518372IDSc.1308G>C (p.Lys436Asn)
c.675G>C (p.Lys225Asn)
n.415G>C
c.1038G>C (p.Lys346Asn)
Xg.149483091C>TCA519174004IDSc.1308G>A (p.Lys436=)
c.675G>A (p.Lys225=)
n.415G>A
c.1038G>A (p.Lys346=)
Xg.149483092T>ACA414518373IDSc.1307A>T (p.Lys436Met)
c.674A>T (p.Lys225Met)
n.414A>T
c.1037A>T (p.Lys346Met)
Xg.149483092T>CCA414518374IDSc.1307A>G (p.Lys436Arg)
c.674A>G (p.Lys225Arg)
n.414A>G
c.1037A>G (p.Lys346Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483092T>GCA414518375IDSc.1307A>C (p.Lys436Thr)
c.674A>C (p.Lys225Thr)
n.414A>C
c.1037A>C (p.Lys346Thr)
Xg.149483092T=CA2465004044IDSc.1307A= (p.Lys436=)
c.674A= (p.Lys225=)
n.414A=
c.1037A= (p.Lys346=)
Xg.149483093T>ACA414518376IDSc.1306A>T (p.Lys436Ter)
c.673A>T (p.Lys225Ter)
n.413A>T
c.1036A>T (p.Lys346Ter)
Xg.149483093T>CCA414518377IDSc.1306A>G (p.Lys436Glu)
c.673A>G (p.Lys225Glu)
n.413A>G
c.1036A>G (p.Lys346Glu)
Xg.149483093T>GCA414518378IDSc.1306A>C (p.Lys436Gln)
c.673A>C (p.Lys225Gln)
n.413A>C
c.1036A>C (p.Lys346Gln)
Xg.149483094_149483100dupCA2695236517IDSc.1300_1306dup (p.Lys436ArgfsTer13)
c.667_673dup (p.Lys225ArgfsTer13)
n.407_413dup
c.1030_1036dup (p.Lys346ArgfsTer13)
Xg.149483096_149483104delCA2695236518IDSc.1298_1306del (p.Arg433_Gly435del)
c.665_673del (p.Arg222_Gly224del)
n.405_413del
c.1028_1036del (p.Arg343_Gly345del)
Xg.149483094G>ACA519174010IDSc.1305C>T (p.Gly435=)
c.672C>T (p.Gly224=)
n.412C>T
c.1035C>T (p.Gly345=)
 dbSNP
Xg.149483094G>CCA519174011IDSc.1305C>G (p.Gly435=)
c.672C>G (p.Gly224=)
n.412C>G
c.1035C>G (p.Gly345=)
Xg.149483094G>TCA519174012IDSc.1305C>A (p.Gly435=)
c.672C>A (p.Gly224=)
n.412C>A
c.1035C>A (p.Gly345=)
Xg.149483095C>ACA414518379IDSc.1304G>T (p.Gly435Val)
c.671G>T (p.Gly224Val)
n.411G>T
c.1034G>T (p.Gly345Val)
Xg.149483095C>GCA414518380IDSc.1304G>C (p.Gly435Ala)
c.671G>C (p.Gly224Ala)
n.411G>C
c.1034G>C (p.Gly345Ala)
Xg.149483095C>TCA414518381IDSc.1304G>A (p.Gly435Asp)
c.671G>A (p.Gly224Asp)
n.411G>A
c.1034G>A (p.Gly345Asp)
 gnomAD v4
Xg.149483096C>ACA414518382IDSc.1303G>T (p.Gly435Cys)
c.670G>T (p.Gly224Cys)
n.410G>T
c.1033G>T (p.Gly345Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.149483096C=CA2465004045IDSc.1303G= (p.Gly435=)
c.670G= (p.Gly224=)
n.410G=
c.1033G= (p.Gly345=)
Xg.149483096C>GCA414518383IDSc.1303G>C (p.Gly435Arg)
c.670G>C (p.Gly224Arg)
n.410G>C
c.1033G>C (p.Gly345Arg)
Xg.149483096C>TCA414518384IDSc.1303G>A (p.Gly435Ser)
c.670G>A (p.Gly224Ser)
n.410G>A
c.1033G>A (p.Gly345Ser)
Xg.149483097T>ACA414518386IDSc.1302A>T (p.Glu434Asp)
c.669A>T (p.Glu223Asp)
n.409A>T
c.1032A>T (p.Glu344Asp)
 gnomAD v4
Xg.149483097T>CCA519174016IDSc.1302A>G (p.Glu434=)
c.669A>G (p.Glu223=)
n.409A>G
c.1032A>G (p.Glu344=)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483097T>GCA414518385IDSc.1302A>C (p.Glu434Asp)
c.669A>C (p.Glu223Asp)
n.409A>C
c.1032A>C (p.Glu344Asp)
Xg.149483097T=CA2465004046IDSc.1302A= (p.Glu434=)
c.669A= (p.Glu223=)
n.409A=
c.1032A= (p.Glu344=)
Xg.149483098T>ACA414518387IDSc.1301A>T (p.Glu434Val)
c.668A>T (p.Glu223Val)
n.408A>T
c.1031A>T (p.Glu344Val)
Xg.149483098T>CCA414518388IDSc.1301A>G (p.Glu434Gly)
c.668A>G (p.Glu223Gly)
n.408A>G
c.1031A>G (p.Glu344Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483098T>GCA414518389IDSc.1301A>C (p.Glu434Ala)
c.668A>C (p.Glu223Ala)
n.408A>C
c.1031A>C (p.Glu344Ala)
Xg.149483098T=CA2465004047IDSc.1301A= (p.Glu434=)
c.668A= (p.Glu223=)
n.408A=
c.1031A= (p.Glu344=)
Xg.149483099C>ACA414518390IDSc.1300G>T (p.Glu434Ter)
c.667G>T (p.Glu223Ter)
n.407G>T
c.1030G>T (p.Glu344Ter)
Xg.149483099C>GCA414518391IDSc.1300G>C (p.Glu434Gln)
c.667G>C (p.Glu223Gln)
n.407G>C
c.1030G>C (p.Glu344Gln)
Xg.149483099C>TCA414518392IDSc.1300G>A (p.Glu434Lys)
c.667G>A (p.Glu223Lys)
n.407G>A
c.1030G>A (p.Glu344Lys)
 ClinVar
Xg.149483100T>ACA414518393IDSc.1299A>T (p.Arg433Ser)
c.666A>T (p.Arg222Ser)
n.406A>T
c.1029A>T (p.Arg343Ser)
Xg.149483100T>CCA519174025IDSc.1299A>G (p.Arg433=)
c.666A>G (p.Arg222=)
n.406A>G
c.1029A>G (p.Arg343=)
Xg.149483100T>GCA414518394IDSc.1299A>C (p.Arg433Ser)
c.666A>C (p.Arg222Ser)
n.406A>C
c.1029A>C (p.Arg343Ser)
Xg.149483101C>ACA414518395IDSc.1298G>T (p.Arg433Ile)
c.665G>T (p.Arg222Ile)
n.405G>T
c.1028G>T (p.Arg343Ile)
Xg.149483101C>GCA414518396IDSc.1298G>C (p.Arg433Thr)
c.665G>C (p.Arg222Thr)
n.405G>C
c.1028G>C (p.Arg343Thr)
Xg.149483101C>TCA414518397IDSc.1298G>A (p.Arg433Lys)
c.665G>A (p.Arg222Lys)
n.405G>A
c.1028G>A (p.Arg343Lys)
 gnomAD v4
Xg.149483102_149483106dupCA2695236519IDSc.1294_1298dup (p.Arg433SerfsTer9)
c.661_665dup (p.Arg222SerfsTer9)
n.401_405dup
c.1024_1028dup (p.Arg343SerfsTer9)
Xg.149483102T>ACA414518398IDSc.1297A>T (p.Arg433Ter)
c.664A>T (p.Arg222Ter)
n.404A>T
c.1027A>T (p.Arg343Ter)
Xg.149483102T>CCA414518399IDSc.1297A>G (p.Arg433Gly)
c.664A>G (p.Arg222Gly)
n.404A>G
c.1027A>G (p.Arg343Gly)
 ClinVar dbSNP gnomAD v4
Xg.149483102T>GCA519174026IDSc.1297A>C (p.Arg433=)
c.664A>C (p.Arg222=)
n.404A>C
c.1027A>C (p.Arg343=)
Xg.149483102T=CA2465004048IDSc.1297A= (p.Arg433=)
c.664A= (p.Arg222=)
n.404A=
c.1027A= (p.Arg343=)
Xg.149483103G>ACA519174027IDSc.1296C>T (p.Cys432=)
c.663C>T (p.Cys221=)
n.403C>T
c.1026C>T (p.Cys342=)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483103G>CCA414518400IDSc.1296C>G (p.Cys432Trp)
c.663C>G (p.Cys221Trp)
n.403C>G
c.1026C>G (p.Cys342Trp)
Xg.149483103G=CA2465004049IDSc.1296C= (p.Cys432=)
c.663C= (p.Cys221=)
n.403C=
c.1026C= (p.Cys342=)
Xg.149483103G>TCA414518401IDSc.1296C>A (p.Cys432Ter)
c.663C>A (p.Cys221Ter)
n.403C>A
c.1026C>A (p.Cys342Ter)
Xg.149483104C>ACA414518402IDSc.1295G>T (p.Cys432Phe)
c.662G>T (p.Cys221Phe)
n.402G>T
c.1025G>T (p.Cys342Phe)
 ClinVar
Xg.149483104C>GCA414518403IDSc.1295G>C (p.Cys432Ser)
c.662G>C (p.Cys221Ser)
n.402G>C
c.1025G>C (p.Cys342Ser)
Xg.149483104C>TCA414518404IDSc.1295G>A (p.Cys432Tyr)
c.662G>A (p.Cys221Tyr)
n.402G>A
c.1025G>A (p.Cys342Tyr)
Xg.149483106_149483107dupCA2695236520IDSc.1294_1295dup (p.Arg433AlafsTer8)
c.661_662dup (p.Arg222AlafsTer8)
n.401_402dup
c.1024_1025dup (p.Arg343AlafsTer8)
Xg.149483105A>CCA414518405IDSc.1294T>G (p.Cys432Gly)
c.661T>G (p.Cys221Gly)
n.401T>G
c.1024T>G (p.Cys342Gly)
Xg.149483105A>GCA414518406IDSc.1294T>C (p.Cys432Arg)
c.661T>C (p.Cys221Arg)
n.401T>C
c.1024T>C (p.Cys342Arg)
Xg.149483105A>TCA414518407IDSc.1294T>A (p.Cys432Ser)
c.661T>A (p.Cys221Ser)
n.401T>A
c.1024T>A (p.Cys342Ser)
Xg.149483106C>ACA519174032IDSc.1293G>T (p.Leu431=)
c.660G>T (p.Leu220=)
n.400G>T
c.1023G>T (p.Leu341=)
Xg.149483106C=CA2465004050IDSc.1293G= (p.Leu431=)
c.660G= (p.Leu220=)
n.400G=
c.1023G= (p.Leu341=)
Xg.149483106C>GCA10537463IDSc.1293G>C (p.Leu431=)
c.660G>C (p.Leu220=)
n.400G>C
c.1023G>C (p.Leu341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483106C>TCA519174033IDSc.1293G>A (p.Leu431=)
c.660G>A (p.Leu220=)
n.400G>A
c.1023G>A (p.Leu341=)
 ClinVar dbSNP gnomAD v4
Xg.149483107A>CCA414518408IDSc.1292T>G (p.Leu431Arg)
c.659T>G (p.Leu220Arg)
n.399T>G
c.1022T>G (p.Leu341Arg)
Xg.149483107A>GCA414518409IDSc.1292T>C (p.Leu431Pro)
c.659T>C (p.Leu220Pro)
n.399T>C
c.1022T>C (p.Leu341Pro)
Xg.149483107A>TCA414518410IDSc.1292T>A (p.Leu431Gln)
c.659T>A (p.Leu220Gln)
n.399T>A
c.1022T>A (p.Leu341Gln)
Xg.149483108G>ACA519174037IDSc.1291C>T (p.Leu431=)
c.658C>T (p.Leu220=)
n.398C>T
c.1021C>T (p.Leu341=)
Xg.149483108G>CCA414518411IDSc.1291C>G (p.Leu431Val)
c.658C>G (p.Leu220Val)
n.398C>G
c.1021C>G (p.Leu341Val)
Xg.149483108G>TCA414518412IDSc.1291C>A (p.Leu431Met)
c.658C>A (p.Leu220Met)
n.398C>A
c.1021C>A (p.Leu341Met)
Xg.149483109C>ACA414518414IDSc.1290G>T (p.Glu430Asp)
c.657G>T (p.Glu219Asp)
n.397G>T
c.1020G>T (p.Glu340Asp)
Xg.149483109C=CA2465004051IDSc.1290G= (p.Glu430=)
c.657G= (p.Glu219=)
n.397G=
c.1020G= (p.Glu340=)
Xg.149483109C>GCA414518413IDSc.1290G>C (p.Glu430Asp)
c.657G>C (p.Glu219Asp)
n.397G>C
c.1020G>C (p.Glu340Asp)
Xg.149483109C>TCA10537464IDSc.1290G>A (p.Glu430=)
c.657G>A (p.Glu219=)
n.397G>A
c.1020G>A (p.Glu340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483110T>ACA414518415IDSc.1289A>T (p.Glu430Val)
c.656A>T (p.Glu219Val)
n.396A>T
c.1019A>T (p.Glu340Val)
Xg.149483110T>CCA414518416IDSc.1289A>G (p.Glu430Gly)
c.656A>G (p.Glu219Gly)
n.396A>G
c.1019A>G (p.Glu340Gly)
Xg.149483110T>GCA414518417IDSc.1289A>C (p.Glu430Ala)
c.656A>C (p.Glu219Ala)
n.396A>C
c.1019A>C (p.Glu340Ala)
Xg.149483111C>ACA414518418IDSc.1288G>T (p.Glu430Ter)
c.655G>T (p.Glu219Ter)
n.395G>T
c.1018G>T (p.Glu340Ter)
Xg.149483111C>GCA414518419IDSc.1288G>C (p.Glu430Gln)
c.655G>C (p.Glu219Gln)
n.395G>C
c.1018G>C (p.Glu340Gln)
Xg.149483111C>TCA414518420IDSc.1288G>A (p.Glu430Lys)
c.655G>A (p.Glu219Lys)
n.395G>A
c.1018G>A (p.Glu340Lys)
Xg.149483112A>CCA519174041IDSc.1287T>G (p.Val429=)
c.654T>G (p.Val218=)
n.394T>G
c.1017T>G (p.Val339=)
 gnomAD v4
Xg.149483112A>GCA519174043IDSc.1287T>C (p.Val429=)
c.654T>C (p.Val218=)
n.394T>C
c.1017T>C (p.Val339=)
Xg.149483112A>TCA519174044IDSc.1287T>A (p.Val429=)
c.654T>A (p.Val218=)
n.394T>A
c.1017T>A (p.Val339=)
Xg.149483113A>CCA414518421IDSc.1286T>G (p.Val429Gly)
c.653T>G (p.Val218Gly)
n.393T>G
c.1016T>G (p.Val339Gly)
Xg.149483113A>GCA414518422IDSc.1286T>C (p.Val429Ala)
c.653T>C (p.Val218Ala)
n.393T>C
c.1016T>C (p.Val339Ala)
Xg.149483113A>TCA414518423IDSc.1286T>A (p.Val429Asp)
c.653T>A (p.Val218Asp)
n.393T>A
c.1016T>A (p.Val339Asp)
Xg.149483114C>ACA414518424IDSc.1285G>T (p.Val429Phe)
c.652G>T (p.Val218Phe)
n.392G>T
c.1015G>T (p.Val339Phe)
Xg.149483114C=CA2465004052IDSc.1285G= (p.Val429=)
c.652G= (p.Val218=)
n.392G=
c.1015G= (p.Val339=)
Xg.149483114C>GCA414518425IDSc.1285G>C (p.Val429Leu)
c.652G>C (p.Val218Leu)
n.392G>C
c.1015G>C (p.Val339Leu)
Xg.149483114C>TCA10537465IDSc.1285G>A (p.Val429Ile)
c.652G>A (p.Val218Ile)
n.392G>A
c.1015G>A (p.Val339Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.149483115G>ACA10537466IDSc.1284C>T (p.His428=)
c.651C>T (p.His217=)
n.391C>T
c.1014C>T (p.His338=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483115G>CCA414518427IDSc.1284C>G (p.His428Gln)
c.651C>G (p.His217Gln)
n.391C>G
c.1014C>G (p.His338Gln)
Xg.149483115G=CA2465004053IDSc.1284C= (p.His428=)
c.651C= (p.His217=)
n.391C=
c.1014C= (p.His338=)
Xg.149483115G>TCA414518426IDSc.1284C>A (p.His428Gln)
c.651C>A (p.His217Gln)
n.391C>A
c.1014C>A (p.His338Gln)
Xg.149483116_149483117delCA2739289615IDSc.1283_1284del (p.His428ArgfsTer2)
c.650_651del (p.His217ArgfsTer2)
n.390_391del
c.1013_1014del (p.His338ArgfsTer2)
Xg.149483116T>ACA414518429IDSc.1283A>T (p.His428Leu)
c.650A>T (p.His217Leu)
n.390A>T
c.1013A>T (p.His338Leu)
 COSMIC
Xg.149483116T>CCA414518428IDSc.1283A>G (p.His428Arg)
c.650A>G (p.His217Arg)
n.390A>G
c.1013A>G (p.His338Arg)
Xg.149483116T>GCA414518430IDSc.1283A>C (p.His428Pro)
c.650A>C (p.His217Pro)
n.390A>C
c.1013A>C (p.His338Pro)
Xg.149483117G>ACA414518431IDSc.1282C>T (p.His428Tyr)
c.649C>T (p.His217Tyr)
n.389C>T
c.1012C>T (p.His338Tyr)
Xg.149483117G>CCA414518432IDSc.1282C>G (p.His428Asp)
c.649C>G (p.His217Asp)
n.389C>G
c.1012C>G (p.His338Asp)
Xg.149483117G>TCA414518433IDSc.1282C>A (p.His428Asn)
c.649C>A (p.His217Asn)
n.389C>A
c.1012C>A (p.His338Asn)
Xg.149483118A=CA2465004054IDSc.1281T= (p.Phe427=)
c.648T= (p.Phe216=)
n.388T=
c.1011T= (p.Phe337=)
Xg.149483118A>CCA10537467IDSc.1281T>G (p.Phe427Leu)
c.648T>G (p.Phe216Leu)
n.388T>G
c.1011T>G (p.Phe337Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483118A>GCA519174051IDSc.1281T>C (p.Phe427=)
c.648T>C (p.Phe216=)
n.388T>C
c.1011T>C (p.Phe337=)
Xg.149483118A>TCA414518434IDSc.1281T>A (p.Phe427Leu)
c.648T>A (p.Phe216Leu)
n.388T>A
c.1011T>A (p.Phe337Leu)
Xg.149483119A>CCA414518435IDSc.1280T>G (p.Phe427Cys)
c.647T>G (p.Phe216Cys)
n.387T>G
c.1010T>G (p.Phe337Cys)
Xg.149483119A>GCA414518436IDSc.1280T>C (p.Phe427Ser)
c.647T>C (p.Phe216Ser)
n.387T>C
c.1010T>C (p.Phe337Ser)
Xg.149483119A>TCA414518437IDSc.1280T>A (p.Phe427Tyr)
c.647T>A (p.Phe216Tyr)
n.387T>A
c.1010T>A (p.Phe337Tyr)
Xg.149483120A=CA2465004055IDSc.1279T= (p.Phe427=)
c.646T= (p.Phe216=)
n.386T=
c.1009T= (p.Phe337=)
Xg.149483120A>CCA414518438IDSc.1279T>G (p.Phe427Val)
c.646T>G (p.Phe216Val)
n.386T>G
c.1009T>G (p.Phe337Val)
Xg.149483120A>GCA414518439IDSc.1279T>C (p.Phe427Leu)
c.646T>C (p.Phe216Leu)
n.386T>C
c.1009T>C (p.Phe337Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483120A>TCA414518440IDSc.1279T>A (p.Phe427Ile)
c.646T>A (p.Phe216Ile)
n.386T>A
c.1009T>A (p.Phe337Ile)
Xg.149483121T>ACA519174059IDSc.1278A>T (p.Ser426=)
c.645A>T (p.Ser215=)
n.385A>T
c.1008A>T (p.Ser336=)
Xg.149483121T>CCA519174058IDSc.1278A>G (p.Ser426=)
c.645A>G (p.Ser215=)
n.385A>G
c.1008A>G (p.Ser336=)
 gnomAD v4
Xg.149483121T>GCA519174057IDSc.1278A>C (p.Ser426=)
c.645A>C (p.Ser215=)
n.385A>C
c.1008A>C (p.Ser336=)
Xg.149483122G>ACA414518443IDSc.1277C>T (p.Ser426Leu)
c.644C>T (p.Ser215Leu)
n.384C>T
c.1007C>T (p.Ser336Leu)
Xg.149483122G>CCA414518442IDSc.1277C>G (p.Ser426Ter)
c.644C>G (p.Ser215Ter)
n.384C>G
c.1007C>G (p.Ser336Ter)
Xg.149483122G>TCA414518441IDSc.1277C>A (p.Ser426Ter)
c.644C>A (p.Ser215Ter)
n.384C>A
c.1007C>A (p.Ser336Ter)
Xg.149483125_149483128delCA2695236522IDSc.1274_1277del (p.Pro425HisfsTer14)
c.641_644del (p.Pro214HisfsTer14)
n.381_384del
c.1004_1007del (p.Pro335HisfsTer14)
Xg.149483123A>CCA414518444IDSc.1276T>G (p.Ser426Ala)
c.643T>G (p.Ser215Ala)
n.383T>G
c.1006T>G (p.Ser336Ala)
Xg.149483123A>GCA414518445IDSc.1276T>C (p.Ser426Pro)
c.643T>C (p.Ser215Pro)
n.383T>C
c.1006T>C (p.Ser336Pro)
Xg.149483123A>TCA414518446IDSc.1276T>A (p.Ser426Thr)
c.643T>A (p.Ser215Thr)
n.383T>A
c.1006T>A (p.Ser336Thr)
Xg.149483124A>CCA519174066IDSc.1275T>G (p.Pro425=)
c.642T>G (p.Pro214=)
n.382T>G
c.1005T>G (p.Pro335=)
Xg.149483124A>GCA519174065IDSc.1275T>C (p.Pro425=)
c.642T>C (p.Pro214=)
n.382T>C
c.1005T>C (p.Pro335=)
Xg.149483124A>TCA519174064IDSc.1275T>A (p.Pro425=)
c.642T>A (p.Pro214=)
n.382T>A
c.1005T>A (p.Pro335=)
 ClinVar
Xg.149483125G>ACA414518447IDSc.1274C>T (p.Pro425Leu)
c.641C>T (p.Pro214Leu)
n.381C>T
c.1004C>T (p.Pro335Leu)
Xg.149483125G>CCA414518448IDSc.1274C>G (p.Pro425Arg)
c.641C>G (p.Pro214Arg)
n.381C>G
c.1004C>G (p.Pro335Arg)
Xg.149483125G>TCA414518449IDSc.1274C>A (p.Pro425His)
c.641C>A (p.Pro214His)
n.381C>A
c.1004C>A (p.Pro335His)
Xg.149483126delCA2695236523IDSc.1274del (p.Pro425LeufsTer15)
c.641del (p.Pro214LeufsTer15)
n.381del
c.1004del (p.Pro335LeufsTer15)
Xg.149483126G>ACA414518450IDSc.1273C>T (p.Pro425Ser)
c.640C>T (p.Pro214Ser)
n.380C>T
c.1003C>T (p.Pro335Ser)
Xg.149483126G>CCA414518451IDSc.1273C>G (p.Pro425Ala)
c.640C>G (p.Pro214Ala)
n.380C>G
c.1003C>G (p.Pro335Ala)
Xg.149483126G>TCA414518452IDSc.1273C>A (p.Pro425Thr)
c.640C>A (p.Pro214Thr)
n.380C>A
c.1003C>A (p.Pro335Thr)
Xg.149483127A>CCA519174071IDSc.1272T>G (p.Val424=)
c.639T>G (p.Val213=)
n.379T>G
c.1002T>G (p.Val334=)
Xg.149483127A>GCA519174076IDSc.1272T>C (p.Val424=)
c.639T>C (p.Val213=)
n.379T>C
c.1002T>C (p.Val334=)
 gnomAD v4
Xg.149483127A>TCA519174073IDSc.1272T>A (p.Val424=)
c.639T>A (p.Val213=)
n.379T>A
c.1002T>A (p.Val334=)
Xg.149483128delCA2499226412IDSc.1272del (p.Pro425LeufsTer15)
c.639del (p.Pro214LeufsTer15)
n.379del
c.1002del (p.Pro335LeufsTer15)
 ClinVar dbSNP
Xg.149483128A=CA2465004056IDSc.1271T= (p.Val424=)
c.638T= (p.Val213=)
n.378T=
c.1001T= (p.Val334=)
Xg.149483128A>CCA414518453IDSc.1271T>G (p.Val424Gly)
c.638T>G (p.Val213Gly)
n.378T>G
c.1001T>G (p.Val334Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.149483128A>GCA414518454IDSc.1271T>C (p.Val424Ala)
c.638T>C (p.Val213Ala)
n.378T>C
c.1001T>C (p.Val334Ala)
Xg.149483128A>TCA414518455IDSc.1271T>A (p.Val424Asp)
c.638T>A (p.Val213Asp)
n.378T>A
c.1001T>A (p.Val334Asp)
Xg.149483128_149483129delCA2695236526IDSc.1270_1271del (p.Val424SerfsTer6)
c.637_638del (p.Val213SerfsTer6)
n.377_378del
c.1000_1001del (p.Val334SerfsTer6)
Xg.149483129delCA2695236528IDSc.1270del (p.Val424PhefsTer16)
c.637del (p.Val213PhefsTer16)
n.377del
c.1000del (p.Val334PhefsTer16)
Xg.149483129C>ACA414518457IDSc.1270G>T (p.Val424Phe)
c.637G>T (p.Val213Phe)
n.377G>T
c.1000G>T (p.Val334Phe)
Xg.149483129C=CA2465004057IDSc.1270G= (p.Val424=)
c.637G= (p.Val213=)
n.377G=
c.1000G= (p.Val334=)
Xg.149483129C>GCA414518456IDSc.1270G>C (p.Val424Leu)
c.637G>C (p.Val213Leu)
n.377G>C
c.1000G>C (p.Val334Leu)
Xg.149483129C>TCA10537468IDSc.1270G>A (p.Val424Ile)
c.637G>A (p.Val213Ile)
n.377G>A
c.1000G>A (p.Val334Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483130G>ACA10537469IDSc.1269C>T (p.Pro423=)
c.636C>T (p.Pro212=)
n.376C>T
c.999C>T (p.Pro333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483130G>CCA519174081IDSc.1269C>G (p.Pro423=)
c.636C>G (p.Pro212=)
n.376C>G
c.999C>G (p.Pro333=)
Xg.149483130G=CA2465004058IDSc.1269C= (p.Pro423=)
c.636C= (p.Pro212=)
n.376C=
c.999C= (p.Pro333=)
Xg.149483130G>TCA519174082IDSc.1269C>A (p.Pro423=)
c.636C>A (p.Pro212=)
n.376C>A
c.999C>A (p.Pro333=)
Xg.149483133dupCA2695236531IDSc.1269dup (p.Val424ArgfsTer7)
c.636dup (p.Val213ArgfsTer7)
n.376dup
c.999dup (p.Val334ArgfsTer7)
Xg.149483132_149483133dupCA2695236532IDSc.1268_1269dup (p.Val424ProfsTer17)
c.635_636dup (p.Val213ProfsTer17)
n.375_376dup
c.998_999dup (p.Val334ProfsTer17)
Xg.149483133delCA2580101618IDSc.1269del (p.Val424PhefsTer16)
c.636del (p.Val213PhefsTer16)
n.376del
c.999del (p.Val334PhefsTer16)
 ClinVar dbSNP
Xg.149483131G>ACA414518458IDSc.1268C>T (p.Pro423Leu)
c.635C>T (p.Pro212Leu)
n.375C>T
c.998C>T (p.Pro333Leu)
 ClinVar dbSNP
Xg.149483131G>CCA414518459IDSc.1268C>G (p.Pro423Arg)
c.635C>G (p.Pro212Arg)
n.375C>G
c.998C>G (p.Pro333Arg)
Xg.149483131G=CA2465004059IDSc.1268C= (p.Pro423=)
c.635C= (p.Pro212=)
n.375C=
c.998C= (p.Pro333=)
Xg.149483131G>TCA414518460IDSc.1268C>A (p.Pro423His)
c.635C>A (p.Pro212His)
n.375C>A
c.998C>A (p.Pro333His)
Xg.149483132G>ACA414518461IDSc.1267C>T (p.Pro423Ser)
c.634C>T (p.Pro212Ser)
n.374C>T
c.997C>T (p.Pro333Ser)
 gnomAD v4
Xg.149483132G>CCA414518462IDSc.1267C>G (p.Pro423Ala)
c.634C>G (p.Pro212Ala)
n.374C>G
c.997C>G (p.Pro333Ala)
 gnomAD v4
Xg.149483132G>TCA414518463IDSc.1267C>A (p.Pro423Thr)
c.634C>A (p.Pro212Thr)
n.374C>A
c.997C>A (p.Pro333Thr)
Xg.149483133G>ACA519174089IDSc.1266C>T (p.Cys422=)
c.633C>T (p.Cys211=)
n.373C>T
c.996C>T (p.Cys332=)
Xg.149483133G>CCA414518464IDSc.1266C>G (p.Cys422Trp)
c.633C>G (p.Cys211Trp)
n.373C>G
c.996C>G (p.Cys332Trp)
Xg.149483133G>TCA414518465IDSc.1266C>A (p.Cys422Ter)
c.633C>A (p.Cys211Ter)
n.373C>A
c.996C>A (p.Cys332Ter)
Xg.149483134C>ACA414518466IDSc.1265G>T (p.Cys422Phe)
c.632G>T (p.Cys211Phe)
n.372G>T
c.995G>T (p.Cys332Phe)
 ClinVar dbSNP
Xg.149483134C=CA2465004060IDSc.1265G= (p.Cys422=)
c.632G= (p.Cys211=)
n.372G=
c.995G= (p.Cys332=)
Xg.149483134C>GCA414518467IDSc.1265G>C (p.Cys422Ser)
c.632G>C (p.Cys211Ser)
n.372G>C
c.995G>C (p.Cys332Ser)
Xg.149483134C>TCA10604925IDSc.1265G>A (p.Cys422Tyr)
c.632G>A (p.Cys211Tyr)
n.372G>A
c.995G>A (p.Cys332Tyr)
 ClinVar dbSNP
Xg.149483135A=CA2465004061IDSc.1264T= (p.Cys422=)
c.631T= (p.Cys211=)
n.371T=
c.994T= (p.Cys332=)
Xg.149483135A>CCA255274IDSc.1264T>G (p.Cys422Gly)
c.631T>G (p.Cys211Gly)
n.371T>G
c.994T>G (p.Cys332Gly)
 ClinVar dbSNP
Xg.149483135A>GCA414518469IDSc.1264T>C (p.Cys422Arg)
c.631T>C (p.Cys211Arg)
n.371T>C
c.994T>C (p.Cys332Arg)
 ClinVar dbSNP
Xg.149483135A>TCA414518468IDSc.1264T>A (p.Cys422Ser)
c.631T>A (p.Cys211Ser)
n.371T>A
c.994T>A (p.Cys332Ser)
Xg.149483136G>ACA519174097IDSc.1263C>T (p.Arg421=)
c.630C>T (p.Arg210=)
n.370C>T
c.993C>T (p.Arg331=)
Xg.149483136G>CCA519174098IDSc.1263C>G (p.Arg421=)
c.630C>G (p.Arg210=)
n.370C>G
c.993C>G (p.Arg331=)
Xg.149483136G>TCA519174099IDSc.1263C>A (p.Arg421=)
c.630C>A (p.Arg210=)
n.370C>A
c.993C>A (p.Arg331=)
Xg.149483137C>ACA414518470IDSc.1262G>T (p.Arg421Leu)
c.629G>T (p.Arg210Leu)
n.369G>T
c.992G>T (p.Arg331Leu)
Xg.149483137C=CA2465004062IDSc.1262G= (p.Arg421=)
c.629G= (p.Arg210=)
n.369G=
c.992G= (p.Arg331=)
Xg.149483137C>GCA414518471IDSc.1262G>C (p.Arg421Pro)
c.629G>C (p.Arg210Pro)
n.369G>C
c.992G>C (p.Arg331Pro)
Xg.149483137C>TCA10537470IDSc.1262G>A (p.Arg421His)
c.629G>A (p.Arg210His)
n.369G>A
c.992G>A (p.Arg331His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483138G>ACA10537471IDSc.1261C>T (p.Arg421Cys)
c.628C>T (p.Arg210Cys)
n.368C>T
c.991C>T (p.Arg331Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483138G>CCA414518472IDSc.1261C>G (p.Arg421Gly)
c.628C>G (p.Arg210Gly)
n.368C>G
c.991C>G (p.Arg331Gly)
Xg.149483138G=CA2465004063IDSc.1261C= (p.Arg421=)
c.628C= (p.Arg210=)
n.368C=
c.991C= (p.Arg331=)
Xg.149483138G>TCA414518473IDSc.1261C>A (p.Arg421Ser)
c.628C>A (p.Arg210Ser)
n.368C>A
c.991C>A (p.Arg331Ser)
Xg.149483139A>CCA519174106IDSc.1260T>G (p.Pro420=)
c.627T>G (p.Pro209=)
n.367T>G
c.990T>G (p.Pro330=)
Xg.149483139A>GCA519174107IDSc.1260T>C (p.Pro420=)
c.627T>C (p.Pro209=)
n.367T>C
c.990T>C (p.Pro330=)
Xg.149483139A>TCA519174111IDSc.1260T>A (p.Pro420=)
c.627T>A (p.Pro209=)
n.367T>A
c.990T>A (p.Pro330=)
Xg.149483139_149483140delinsAGCA2465004064IDSc.1259_1260delinsCT (p.Pro420=)
c.626_627delinsCT (p.Pro209=)
n.366_367delinsCT
c.989_990delinsCT (p.Pro330=)
Xg.149483140G>ACA414518474IDSc.1259C>T (p.Pro420Leu)
c.626C>T (p.Pro209Leu)
n.366C>T
c.989C>T (p.Pro330Leu)
Xg.149483140G>CCA414518475IDSc.1259C>G (p.Pro420Arg)
c.626C>G (p.Pro209Arg)
n.366C>G
c.989C>G (p.Pro330Arg)
Xg.149483140G=CA2465004066IDSc.1259C= (p.Pro420=)
c.626C= (p.Pro209=)
n.366C=
c.989C= (p.Pro330=)
Xg.149483140G>TCA337035533IDSc.1259C>A (p.Pro420His)
c.626C>A (p.Pro209His)
n.366C>A
c.989C>A (p.Pro330His)
 dbSNP
Xg.149483141delCA2465004065IDSc.1259del (p.Pro420LeufsTer20)
c.626del (p.Pro209LeufsTer20)
n.366del
c.989del (p.Pro330LeufsTer20)
 ClinVar dbSNP
Xg.149483141G>ACA414518476IDSc.1258C>T (p.Pro420Ser)
c.625C>T (p.Pro209Ser)
n.365C>T
c.988C>T (p.Pro330Ser)
Xg.149483141G>CCA414518477IDSc.1258C>G (p.Pro420Ala)
c.625C>G (p.Pro209Ala)
n.365C>G
c.988C>G (p.Pro330Ala)
Xg.149483141G>TCA414518478IDSc.1258C>A (p.Pro420Thr)
c.625C>A (p.Pro209Thr)
n.365C>A
c.988C>A (p.Pro330Thr)
Xg.149483142T>ACA519174119IDSc.1257A>T (p.Pro419=)
c.624A>T (p.Pro208=)
n.364A>T
c.987A>T (p.Pro329=)
Xg.149483142T>CCA10537472IDSc.1257A>G (p.Pro419=)
c.624A>G (p.Pro208=)
n.364A>G
c.987A>G (p.Pro329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149483142T>GCA519174122IDSc.1257A>C (p.Pro419=)
c.624A>C (p.Pro208=)
n.364A>C
c.987A>C (p.Pro329=)
Xg.149483142T=CA2465004067IDSc.1257A= (p.Pro419=)
c.624A= (p.Pro208=)
n.364A=
c.987A= (p.Pro329=)
Xg.149483143G>ACA414518480IDSc.1256C>T (p.Pro419Leu)
c.623C>T (p.Pro208Leu)
n.363C>T
c.986C>T (p.Pro329Leu)
Xg.149483143G>CCA414518481IDSc.1256C>G (p.Pro419Arg)
c.623C>G (p.Pro208Arg)
n.363C>G
c.986C>G (p.Pro329Arg)
Xg.149483143G>TCA414518479IDSc.1256C>A (p.Pro419Gln)
c.623C>A (p.Pro208Gln)
n.363C>A
c.986C>A (p.Pro329Gln)
Xg.149483144G>ACA414518484IDSc.1255C>T (p.Pro419Ser)
c.622C>T (p.Pro208Ser)
n.362C>T
c.985C>T (p.Pro329Ser)
 gnomAD v4
Xg.149483144G>CCA414518482IDSc.1255C>G (p.Pro419Ala)
c.622C>G (p.Pro208Ala)
n.362C>G
c.985C>G (p.Pro329Ala)
Xg.149483144G>TCA414518483IDSc.1255C>A (p.Pro419Thr)
c.622C>A (p.Pro208Thr)
n.362C>A
c.985C>A (p.Pro329Thr)
 ClinVar
Xg.149483145A=CA2465004068IDSc.1254T= (p.Val418=)
c.621T= (p.Val207=)
n.361T=
c.984T= (p.Val328=)
Xg.149483145A>CCA519174129IDSc.1254T>G (p.Val418=)
c.621T>G (p.Val207=)
n.361T>G
c.984T>G (p.Val328=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.149483145A>GCA519174130IDSc.1254T>C (p.Val418=)
c.621T>C (p.Val207=)
n.361T>C
c.984T>C (p.Val328=)
 COSMIC
Xg.149483145A>TCA519174131IDSc.1254T>A (p.Val418=)
c.621T>A (p.Val207=)
n.361T>A
c.984T>A (p.Val328=)
Xg.149483146delCA2499226413IDSc.1254del (p.Pro419HisfsTer21)
c.621del (p.Pro208HisfsTer21)
n.361del
c.984del (p.Pro329HisfsTer21)
 ClinVar dbSNP
Xg.149483146A>CCA414518485IDSc.1253T>G (p.Val418Gly)
c.620T>G (p.Val207Gly)
n.360T>G
c.983T>G (p.Val328Gly)
Xg.149483146A>GCA414518486IDSc.1253T>C (p.Val418Ala)
c.620T>C (p.Val207Ala)
n.360T>C
c.983T>C (p.Val328Ala)
 ClinVar
Xg.149483146A>TCA414518487IDSc.1253T>A (p.Val418Asp)
c.620T>A (p.Val207Asp)
n.360T>A
c.983T>A (p.Val328Asp)
Xg.149483147C>ACA414518488IDSc.1252G>T (p.Val418Phe)
c.619G>T (p.Val207Phe)
n.359G>T
c.982G>T (p.Val328Phe)
Xg.149483147C>GCA414518489IDSc.1252G>C (p.Val418Leu)
c.619G>C (p.Val207Leu)
n.359G>C
c.982G>C (p.Val328Leu)
Xg.149483147C>TCA414518490IDSc.1252G>A (p.Val418Ile)
c.619G>A (p.Val207Ile)
n.359G>A
c.982G>A (p.Val328Ile)
Xg.149483148C>ACA414518491IDSc.1251G>T (p.Gln417His)
c.618G>T (p.Gln206His)
n.358G>T
c.981G>T (p.Gln327His)
Xg.149483148C=CA2465004069IDSc.1251G= (p.Gln417=)
c.618G= (p.Gln206=)
n.358G=
c.981G= (p.Gln327=)
Xg.149483148C>GCA414518492IDSc.1251G>C (p.Gln417His)
c.618G>C (p.Gln206His)
n.358G>C
c.981G>C (p.Gln327His)
Xg.149483148C>TCA519174139IDSc.1251G>A (p.Gln417=)
c.618G>A (p.Gln206=)
n.358G>A
c.981G>A (p.Gln327=)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483149T>ACA414518493IDSc.1250A>T (p.Gln417Leu)
c.617A>T (p.Gln206Leu)
n.357A>T
c.980A>T (p.Gln327Leu)
Xg.149483149T>CCA414518494IDSc.1250A>G (p.Gln417Arg)
c.617A>G (p.Gln206Arg)
n.357A>G
c.980A>G (p.Gln327Arg)
 gnomAD v4
Xg.149483149T>GCA414518495IDSc.1250A>C (p.Gln417Pro)
c.617A>C (p.Gln206Pro)
n.357A>C
c.980A>C (p.Gln327Pro)
Xg.149483150G>ACA414518496IDSc.1249C>T (p.Gln417Ter)
c.616C>T (p.Gln206Ter)
n.356C>T
c.979C>T (p.Gln327Ter)
 ClinVar dbSNP
Xg.149483150G>CCA414518498IDSc.1249C>G (p.Gln417Glu)
c.616C>G (p.Gln206Glu)
n.356C>G
c.979C>G (p.Gln327Glu)
 gnomAD v4
Xg.149483150G>TCA414518497IDSc.1249C>A (p.Gln417Lys)
c.616C>A (p.Gln206Lys)
n.356C>A
c.979C>A (p.Gln327Lys)
Xg.149483151C>ACA519174147IDSc.1248G>T (p.Leu416=)
c.615G>T (p.Leu205=)
n.355G>T
c.978G>T (p.Leu326=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.149483151C=CA2465004070IDSc.1248G= (p.Leu416=)
c.615G= (p.Leu205=)
n.355G=
c.978G= (p.Leu326=)
Xg.149483151C>GCA519174148IDSc.1248G>C (p.Leu416=)
c.615G>C (p.Leu205=)
n.355G>C
c.978G>C (p.Leu326=)
Xg.149483151C>TCA519174150IDSc.1248G>A (p.Leu416=)
c.615G>A (p.Leu205=)
n.355G>A
c.978G>A (p.Leu326=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149483152A=CA2465004071IDSc.1247T= (p.Leu416=)
c.614T= (p.Leu205=)
n.354T=
c.977T= (p.Leu326=)
Xg.149483152A>CCA414518499IDSc.1247T>G (p.Leu416Arg)
c.614T>G (p.Leu205Arg)
n.354T>G
c.977T>G (p.Leu326Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483152A>GCA414518500IDSc.1247T>C (p.Leu416Pro)
c.614T>C (p.Leu205Pro)
n.354T>C
c.977T>C (p.Leu326Pro)
Xg.149483152A>TCA414518501IDSc.1247T>A (p.Leu416Gln)
c.614T>A (p.Leu205Gln)
n.354T>A
c.977T>A (p.Leu326Gln)
Xg.149483153G>ACA519174155IDSc.1246C>T (p.Leu416=)
c.613C>T (p.Leu205=)
n.353C>T
c.976C>T (p.Leu326=)
Xg.149483153G>CCA414518502IDSc.1246C>G (p.Leu416Val)
c.613C>G (p.Leu205Val)
n.353C>G
c.976C>G (p.Leu326Val)
Xg.149483153G=CA2465004072IDSc.1246C= (p.Leu416=)
c.613C= (p.Leu205=)
n.353C=
c.976C= (p.Leu326=)
Xg.149483153G>TCA414518503IDSc.1246C>A (p.Leu416Met)
c.613C>A (p.Leu205Met)
n.353C>A
c.976C>A (p.Leu326Met)
Xg.149483154T>ACA519174160IDSc.1245A>T (p.Gly415=)
c.612A>T (p.Gly204=)
n.352A>T
c.975A>T (p.Gly325=)
Xg.149483154T>CCA519174162IDSc.1245A>G (p.Gly415=)
c.612A>G (p.Gly204=)
n.352A>G
c.975A>G (p.Gly325=)
Xg.149483154T>GCA519174161IDSc.1245A>C (p.Gly415=)
c.612A>C (p.Gly204=)
n.352A>C
c.975A>C (p.Gly325=)
Xg.149483155_149483157dupCA645127362IDSc.1243_1245dup (p.Gly415_Leu416insGly)
c.610_612dup (p.Gly204_Leu205insGly)
n.350_352dup
c.973_975dup (p.Gly325_Leu326insGly)
 dbSNP gnomAD v2 gnomAD v4
Xg.149483155C>ACA414518504IDSc.1244G>T (p.Gly415Val)
c.611G>T (p.Gly204Val)
n.351G>T
c.974G>T (p.Gly325Val)
 gnomAD v4
Xg.149483155C>GCA414518505IDSc.1244G>C (p.Gly415Ala)
c.611G>C (p.Gly204Ala)
n.351G>C
c.974G>C (p.Gly325Ala)
Xg.149483155C>TCA414518506IDSc.1244G>A (p.Gly415Glu)
c.611G>A (p.Gly204Glu)
n.351G>A
c.974G>A (p.Gly325Glu)
 gnomAD v4
Xg.149483156C>ACA414518507IDSc.1243G>T (p.Gly415Ter)
c.610G>T (p.Gly204Ter)
n.350G>T
c.973G>T (p.Gly325Ter)
Xg.149483156C>GCA414518508IDSc.1243G>C (p.Gly415Arg)
c.610G>C (p.Gly204Arg)
n.350G>C
c.973G>C (p.Gly325Arg)
Xg.149483156C>TCA414518509IDSc.1243G>A (p.Gly415Arg)
c.610G>A (p.Gly204Arg)
n.350G>A
c.973G>A (p.Gly325Arg)
Xg.149483157T>ACA519174168IDSc.1242A>T (p.Ala414=)
c.609A>T (p.Ala203=)
n.349A>T
c.972A>T (p.Ala324=)
Xg.149483157T>CCA519174170IDSc.1242A>G (p.Ala414=)
c.609A>G (p.Ala203=)
n.349A>G
c.972A>G (p.Ala324=)
Xg.149483157T>GCA519174172IDSc.1242A>C (p.Ala414=)
c.609A>C (p.Ala203=)
n.349A>C
c.972A>C (p.Ala324=)
Xg.149483158G>ACA414518511IDSc.1241C>T (p.Ala414Val)
c.608C>T (p.Ala203Val)
n.348C>T
c.971C>T (p.Ala324Val)
 gnomAD v4
Xg.149483158G>CCA414518512IDSc.1241C>G (p.Ala414Gly)
c.608C>G (p.Ala203Gly)
n.348C>G
c.971C>G (p.Ala324Gly)
Xg.149483158G>TCA414518510IDSc.1241C>A (p.Ala414Glu)
c.608C>A (p.Ala203Glu)
n.348C>A
c.971C>A (p.Ala324Glu)
Xg.149483159C>ACA414518513IDSc.1240G>T (p.Ala414Ser)
c.607G>T (p.Ala203Ser)
n.347G>T
c.970G>T (p.Ala324Ser)
Xg.149483159C=CA2465004073IDSc.1240G= (p.Ala414=)
c.607G= (p.Ala203=)
n.347G=
c.970G= (p.Ala324=)
Xg.149483159C>GCA414518514IDSc.1240G>C (p.Ala414Pro)
c.607G>C (p.Ala203Pro)
n.347G>C
c.970G>C (p.Ala324Pro)
Xg.149483159C>TCA414518515IDSc.1240G>A (p.Ala414Thr)
c.607G>A (p.Ala203Thr)
n.347G>A
c.970G>A (p.Ala324Thr)

Number of alleles fetched