Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.74636358_74636372delCA919741044RFWD3c.1403_1417del (p.Ser468_Ser472del)
c.569_583del (p.Ser190_Ser194del)
dbSNP
16g.74636368_74636373delCA2732778627RFWD3c.1402_1407del (p.Ser468_Pro469del)
c.568_573del (p.Ser190_Pro191del)
dbSNP
16g.74636372G>ACA396761414RFWD3c.1400C>T (p.Pro467Leu)
c.566C>T (p.Pro189Leu)
dbSNP gnomAD v3 gnomAD v4
16g.74636372G>CCA396761416RFWD3c.1400C>G (p.Pro467Arg)
c.566C>G (p.Pro189Arg)
16g.74636372G=CA2232905915RFWD3c.1400C= (p.Pro467=)
c.566C= (p.Pro189=)
16g.74636372G>TCA396761417RFWD3c.1400C>A (p.Pro467His)
c.566C>A (p.Pro189His)
16g.74636373G>ACA396761419RFWD3c.1399C>T (p.Pro467Ser)
c.565C>T (p.Pro189Ser)
ClinVar gnomAD v4
16g.74636373G>CCA396761420RFWD3c.1399C>G (p.Pro467Ala)
c.565C>G (p.Pro189Ala)
dbSNP
16g.74636373G=CA2232905916RFWD3c.1399C= (p.Pro467=)
c.565C= (p.Pro189=)
16g.74636373G>TCA396761426RFWD3c.1399C>A (p.Pro467Thr)
c.565C>A (p.Pro189Thr)
16g.74636374C>ACA396761429RFWD3c.1398G>T (p.Gln466His)
c.564G>T (p.Gln188His)
16g.74636374C>GCA396761431RFWD3c.1398G>C (p.Gln466His)
c.564G>C (p.Gln188His)
gnomAD v4
16g.74636374C>TCA496542413RFWD3c.1398G>A (p.Gln466=)
c.564G>A (p.Gln188=)
16g.74636375T>ACA396761433RFWD3c.1397A>T (p.Gln466Leu)
c.563A>T (p.Gln188Leu)
16g.74636375T>CCA396761437RFWD3c.1397A>G (p.Gln466Arg)
c.563A>G (p.Gln188Arg)
16g.74636375T>GCA396761435RFWD3c.1397A>C (p.Gln466Pro)
c.563A>C (p.Gln188Pro)
16g.74636376G>ACA396761440RFWD3c.1396C>T (p.Gln466Ter)
c.562C>T (p.Gln188Ter)
16g.74636376G>CCA396761442RFWD3c.1396C>G (p.Gln466Glu)
c.562C>G (p.Gln188Glu)
16g.74636376G>TCA396761444RFWD3c.1396C>A (p.Gln466Lys)
c.562C>A (p.Gln188Lys)
16g.74636377T>ACA496542429RFWD3c.1395A>T (p.Ser465=)
c.561A>T (p.Ser187=)
16g.74636377T>CCA496542425RFWD3c.1395A>G (p.Ser465=)
c.561A>G (p.Ser187=)
16g.74636377T>GCA496542426RFWD3c.1395A>C (p.Ser465=)
c.561A>C (p.Ser187=)
gnomAD v4
16g.74636378G>ACA396761446RFWD3c.1394C>T (p.Ser465Leu)
c.560C>T (p.Ser187Leu)
16g.74636378G>CCA396761449RFWD3c.1394C>G (p.Ser465Ter)
c.560C>G (p.Ser187Ter)
16g.74636378G>TCA396761450RFWD3c.1394C>A (p.Ser465Ter)
c.560C>A (p.Ser187Ter)
16g.74636379A=CA2232905917RFWD3c.1393T= (p.Ser465=)
c.559T= (p.Ser187=)
16g.74636379A>CCA396761453RFWD3c.1393T>G (p.Ser465Ala)
c.559T>G (p.Ser187Ala)
16g.74636379A>GCA396761455RFWD3c.1393T>C (p.Ser465Pro)
c.559T>C (p.Ser187Pro)
dbSNP gnomAD v2 gnomAD v4
16g.74636379A>TCA396761457RFWD3c.1393T>A (p.Ser465Thr)
c.559T>A (p.Ser187Thr)
gnomAD v4
16g.74636380T>ACA496542439RFWD3c.1392A>T (p.Ile464=)
c.558A>T (p.Ile186=)
16g.74636380T>CCA396761459RFWD3c.1392A>G (p.Ile464Met)
c.558A>G (p.Ile186Met)
16g.74636380T>GCA496542441RFWD3c.1392A>C (p.Ile464=)
c.558A>C (p.Ile186=)
16g.74636381A>CCA396761461RFWD3c.1391T>G (p.Ile464Arg)
c.557T>G (p.Ile186Arg)
16g.74636381A>GCA396761463RFWD3c.1391T>C (p.Ile464Thr)
c.557T>C (p.Ile186Thr)
gnomAD v4
16g.74636381A>TCA396761465RFWD3c.1391T>A (p.Ile464Lys)
c.557T>A (p.Ile186Lys)
16g.74636382T>ACA396761470RFWD3c.1390A>T (p.Ile464Leu)
c.556A>T (p.Ile186Leu)
16g.74636382T>CCA283745759RFWD3c.1390A>G (p.Ile464Val)
c.556A>G (p.Ile186Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.74636382T>GCA396761467RFWD3c.1390A>C (p.Ile464Leu)
c.556A>C (p.Ile186Leu)
16g.74636382T=CA2232905918RFWD3c.1390A= (p.Ile464=)
c.556A= (p.Ile186=)
16g.74636383C>ACA496542451RFWD3c.1389G>T (p.Val463=)
c.555G>T (p.Val185=)
16g.74636383C>GCA496542452RFWD3c.1389G>C (p.Val463=)
c.555G>C (p.Val185=)
16g.74636383C>TCA496542454RFWD3c.1389G>A (p.Val463=)
c.555G>A (p.Val185=)
16g.74636384A=CA2232905919RFWD3c.1388T= (p.Val463=)
c.554T= (p.Val185=)
16g.74636384A>CCA396761473RFWD3c.1388T>G (p.Val463Gly)
c.554T>G (p.Val185Gly)
16g.74636384A>GCA396761475RFWD3c.1388T>C (p.Val463Ala)
c.554T>C (p.Val185Ala)
16g.74636384A>TCA396761477RFWD3c.1388T>A (p.Val463Glu)
c.554T>A (p.Val185Glu)
dbSNP
16g.74636385C>ACA396761479RFWD3c.1387G>T (p.Val463Leu)
c.553G>T (p.Val185Leu)
16g.74636385C=CA2232905920RFWD3c.1387G= (p.Val463=)
c.553G= (p.Val185=)
16g.74636385C>GCA396761481RFWD3c.1387G>C (p.Val463Leu)
c.553G>C (p.Val185Leu)
16g.74636385C>TCA396761483RFWD3c.1387G>A (p.Val463Met)
c.553G>A (p.Val185Met)
dbSNP gnomAD v2 gnomAD v4
16g.74636386C>ACA496542463RFWD3c.1386G>T (p.Leu462=)
c.552G>T (p.Leu184=)
16g.74636386C>GCA496542464RFWD3c.1386G>C (p.Leu462=)
c.552G>C (p.Leu184=)
16g.74636386C>TCA496542465RFWD3c.1386G>A (p.Leu462=)
c.552G>A (p.Leu184=)
16g.74636387A>CCA396761486RFWD3c.1385T>G (p.Leu462Arg)
c.551T>G (p.Leu184Arg)
gnomAD v4
16g.74636387A>GCA396761487RFWD3c.1385T>C (p.Leu462Pro)
c.551T>C (p.Leu184Pro)
16g.74636387A>TCA396761488RFWD3c.1385T>A (p.Leu462Gln)
c.551T>A (p.Leu184Gln)
16g.74636388G>ACA496542473RFWD3c.1384C>T (p.Leu462=)
c.550C>T (p.Leu184=)
dbSNP gnomAD v3 gnomAD v4
16g.74636388G>CCA396761489RFWD3c.1384C>G (p.Leu462Val)
c.550C>G (p.Leu184Val)
16g.74636388G=CA2232905921RFWD3c.1384C= (p.Leu462=)
c.550C= (p.Leu184=)
16g.74636388G>TCA396761491RFWD3c.1384C>A (p.Leu462Met)
c.550C>A (p.Leu184Met)
16g.74636389G>ACA8169233RFWD3c.1383C>T (p.Cys461=)
c.549C>T (p.Cys183=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636389G>CCA396761494RFWD3c.1383C>G (p.Cys461Trp)
c.549C>G (p.Cys183Trp)
16g.74636389G=CA2232905922RFWD3c.1383C= (p.Cys461=)
c.549C= (p.Cys183=)
16g.74636389G>TCA396761496RFWD3c.1383C>A (p.Cys461Ter)
c.549C>A (p.Cys183Ter)
16g.74636390C>ACA396761500RFWD3c.1382G>T (p.Cys461Phe)
c.548G>T (p.Cys183Phe)
16g.74636390C>GCA396761501RFWD3c.1382G>C (p.Cys461Ser)
c.548G>C (p.Cys183Ser)
16g.74636390C>TCA396761498RFWD3c.1382G>A (p.Cys461Tyr)
c.548G>A (p.Cys183Tyr)
16g.74636391A=CA2232905923RFWD3c.1381T= (p.Cys461=)
c.547T= (p.Cys183=)
16g.74636391A>CCA396761503RFWD3c.1381T>G (p.Cys461Gly)
c.547T>G (p.Cys183Gly)
16g.74636391A>GCA396761505RFWD3c.1381T>C (p.Cys461Arg)
c.547T>C (p.Cys183Arg)
dbSNP gnomAD v4
16g.74636391A>TCA396761507RFWD3c.1381T>A (p.Cys461Ser)
c.547T>A (p.Cys183Ser)
16g.74636392G>ACA496542483RFWD3c.1380C>T (p.Ser460=)
c.546C>T (p.Ser182=)
16g.74636392G>CCA396761509RFWD3c.1380C>G (p.Ser460Arg)
c.546C>G (p.Ser182Arg)
16g.74636392G>TCA396761510RFWD3c.1380C>A (p.Ser460Arg)
c.546C>A (p.Ser182Arg)
COSMIC
16g.74636393C>ACA396761512RFWD3c.1379G>T (p.Ser460Ile)
c.545G>T (p.Ser182Ile)
ClinVar
16g.74636393C=CA2232905924RFWD3c.1379G= (p.Ser460=)
c.545G= (p.Ser182=)
16g.74636393C>GCA8169235RFWD3c.1379G>C (p.Ser460Thr)
c.545G>C (p.Ser182Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636393C>TCA8169234RFWD3c.1379G>A (p.Ser460Asn)
c.545G>A (p.Ser182Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636394T>ACA396761516RFWD3c.1378A>T (p.Ser460Cys)
c.544A>T (p.Ser182Cys)
16g.74636394T>CCA396761517RFWD3c.1378A>G (p.Ser460Gly)
c.544A>G (p.Ser182Gly)
16g.74636394T>GCA396761518RFWD3c.1378A>C (p.Ser460Arg)
c.544A>C (p.Ser182Arg)
16g.74636395C>ACA496542492RFWD3c.1377G>T (p.Leu459=)
c.543G>T (p.Leu181=)
16g.74636395C>GCA496542494RFWD3c.1377G>C (p.Leu459=)
c.543G>C (p.Leu181=)
16g.74636395C>TCA496542496RFWD3c.1377G>A (p.Leu459=)
c.543G>A (p.Leu181=)
16g.74636396A>CCA396761524RFWD3c.1376T>G (p.Leu459Arg)
c.542T>G (p.Leu181Arg)
ClinVar gnomAD v4
16g.74636396A>GCA396761522RFWD3c.1376T>C (p.Leu459Pro)
c.542T>C (p.Leu181Pro)
16g.74636396A>TCA396761521RFWD3c.1376T>A (p.Leu459Gln)
c.542T>A (p.Leu181Gln)
16g.74636397G>ACA8169236RFWD3c.1375C>T (p.Leu459=)
c.541C>T (p.Leu181=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636397G>CCA396761527RFWD3c.1375C>G (p.Leu459Val)
c.541C>G (p.Leu181Val)
dbSNP gnomAD v3 gnomAD v4
16g.74636397G=CA2232905925RFWD3c.1375C= (p.Leu459=)
c.541C= (p.Leu181=)
16g.74636397G>TCA396761529RFWD3c.1375C>A (p.Leu459Met)
c.541C>A (p.Leu181Met)
16g.74636398A=CA2232905926RFWD3c.1374T= (p.Ala458=)
c.540T= (p.Ala180=)
16g.74636398A>CCA496542505RFWD3c.1374T>G (p.Ala458=)
c.540T>G (p.Ala180=)
16g.74636398A>GCA8169237RFWD3c.1374T>C (p.Ala458=)
c.540T>C (p.Ala180=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636398A>TCA496542508RFWD3c.1374T>A (p.Ala458=)
c.540T>A (p.Ala180=)
16g.74636399G>ACA396761532RFWD3c.1373C>T (p.Ala458Val)
c.539C>T (p.Ala180Val)
gnomAD v4
16g.74636399G>CCA396761534RFWD3c.1373C>G (p.Ala458Gly)
c.539C>G (p.Ala180Gly)
16g.74636399G>TCA396761536RFWD3c.1373C>A (p.Ala458Asp)
c.539C>A (p.Ala180Asp)
16g.74636400C>ACA396761538RFWD3c.1372G>T (p.Ala458Ser)
c.538G>T (p.Ala180Ser)
16g.74636400C>GCA396761539RFWD3c.1372G>C (p.Ala458Pro)
c.538G>C (p.Ala180Pro)
16g.74636400C>TCA396761541RFWD3c.1372G>A (p.Ala458Thr)
c.538G>A (p.Ala180Thr)
16g.74636401A>CCA396761544RFWD3c.1371T>G (p.Asp457Glu)
c.537T>G (p.Asp179Glu)
16g.74636401A>GCA496542518RFWD3c.1371T>C (p.Asp457=)
c.537T>C (p.Asp179=)
16g.74636401A>TCA396761545RFWD3c.1371T>A (p.Asp457Glu)
c.537T>A (p.Asp179Glu)
16g.74636402T>ACA396761552RFWD3c.1370A>T (p.Asp457Val)
c.536A>T (p.Asp179Val)
gnomAD v4
16g.74636402T>CCA396761550RFWD3c.1370A>G (p.Asp457Gly)
c.536A>G (p.Asp179Gly)
dbSNP gnomAD v3 gnomAD v4
16g.74636402T>GCA396761547RFWD3c.1370A>C (p.Asp457Ala)
c.536A>C (p.Asp179Ala)
16g.74636402T=CA2232905927RFWD3c.1370A= (p.Asp457=)
c.536A= (p.Asp179=)
16g.74636403C>ACA396761554RFWD3c.1369G>T (p.Asp457Tyr)
c.535G>T (p.Asp179Tyr)
16g.74636403C>GCA396761556RFWD3c.1369G>C (p.Asp457His)
c.535G>C (p.Asp179His)
16g.74636403C>TCA396761558RFWD3c.1369G>A (p.Asp457Asn)
c.535G>A (p.Asp179Asn)
16g.74636404A>CCA396761560RFWD3c.1368T>G (p.Cys456Trp)
c.534T>G (p.Cys178Trp)
16g.74636404A>GCA496542528RFWD3c.1368T>C (p.Cys456=)
c.534T>C (p.Cys178=)
16g.74636404A>TCA396761562RFWD3c.1368T>A (p.Cys456Ter)
c.534T>A (p.Cys178Ter)
16g.74636404dupCA2576060713RFWD3c.1368dup (p.Asp457Ter)
c.534dup (p.Asp179Ter)
16g.74636405C>ACA396761565RFWD3c.1367G>T (p.Cys456Phe)
c.533G>T (p.Cys178Phe)
16g.74636405C=CA2232905928RFWD3c.1367G= (p.Cys456=)
c.533G= (p.Cys178=)
16g.74636405C>GCA396761567RFWD3c.1367G>C (p.Cys456Ser)
c.533G>C (p.Cys178Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.74636405C>TCA8169238RFWD3c.1367G>A (p.Cys456Tyr)
c.533G>A (p.Cys178Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636406A=CA2232905929RFWD3c.1366T= (p.Cys456=)
c.532T= (p.Cys178=)
16g.74636406A>CCA396761571RFWD3c.1366T>G (p.Cys456Gly)
c.532T>G (p.Cys178Gly)
16g.74636406A>GCA396761575RFWD3c.1366T>C (p.Cys456Arg)
c.532T>C (p.Cys178Arg)
dbSNP gnomAD v2 gnomAD v4
16g.74636406A>TCA396761573RFWD3c.1366T>A (p.Cys456Ser)
c.532T>A (p.Cys178Ser)
gnomAD v4
16g.74636407G>ACA496542538RFWD3c.1365C>T (p.Tyr455=)
c.531C>T (p.Tyr177=)
gnomAD v4
16g.74636407G>CCA396761577RFWD3c.1365C>G (p.Tyr455Ter)
c.531C>G (p.Tyr177Ter)
dbSNP gnomAD v4
16g.74636407G=CA2232905930RFWD3c.1365C= (p.Tyr455=)
c.531C= (p.Tyr177=)
16g.74636407G>TCA396761580RFWD3c.1365C>A (p.Tyr455Ter)
c.531C>A (p.Tyr177Ter)
gnomAD v4
16g.74636408T>ACA396761582RFWD3c.1364A>T (p.Tyr455Phe)
c.530A>T (p.Tyr177Phe)
16g.74636408T>CCA8169239RFWD3c.1364A>G (p.Tyr455Cys)
c.530A>G (p.Tyr177Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636408T>GCA396761583RFWD3c.1364A>C (p.Tyr455Ser)
c.530A>C (p.Tyr177Ser)
16g.74636408T=CA2232905931RFWD3c.1364A= (p.Tyr455=)
c.530A= (p.Tyr177=)
16g.74636409A>CCA396761585RFWD3c.1363T>G (p.Tyr455Asp)
c.529T>G (p.Tyr177Asp)
16g.74636409A>GCA396761588RFWD3c.1363T>C (p.Tyr455His)
c.529T>C (p.Tyr177His)
16g.74636409A>TCA396761586RFWD3c.1363T>A (p.Tyr455Asn)
c.529T>A (p.Tyr177Asn)
16g.74636410T>ACA496542547RFWD3c.1362A>T (p.Ala454=)
c.528A>T (p.Ala176=)
16g.74636410T>CCA496542549RFWD3c.1362A>G (p.Ala454=)
c.528A>G (p.Ala176=)
16g.74636410T>GCA496542552RFWD3c.1362A>C (p.Ala454=)
c.528A>C (p.Ala176=)
16g.74636411G>ACA396761590RFWD3c.1361C>T (p.Ala454Val)
c.527C>T (p.Ala176Val)
dbSNP gnomAD v4
16g.74636411G>CCA396761592RFWD3c.1361C>G (p.Ala454Gly)
c.527C>G (p.Ala176Gly)
dbSNP gnomAD v2 gnomAD v4
16g.74636411G=CA2232905932RFWD3c.1361C= (p.Ala454=)
c.527C= (p.Ala176=)
16g.74636411G>TCA396761594RFWD3c.1361C>A (p.Ala454Glu)
c.527C>A (p.Ala176Glu)
gnomAD v4
16g.74636412C>ACA396761596RFWD3c.1360G>T (p.Ala454Ser)
c.526G>T (p.Ala176Ser)
16g.74636412C>GCA396761599RFWD3c.1360G>C (p.Ala454Pro)
c.526G>C (p.Ala176Pro)
16g.74636412C>TCA396761600RFWD3c.1360G>A (p.Ala454Thr)
c.526G>A (p.Ala176Thr)
gnomAD v4
16g.74636413C>ACA396761602RFWD3c.1359G>T (p.Met453Ile)
c.525G>T (p.Met175Ile)
16g.74636413C=CA2232905933RFWD3c.1359G= (p.Met453=)
c.525G= (p.Met175=)
16g.74636413C>GCA396761604RFWD3c.1359G>C (p.Met453Ile)
c.525G>C (p.Met175Ile)
16g.74636413C>TCA283745774RFWD3c.1359G>A (p.Met453Ile)
c.525G>A (p.Met175Ile)
dbSNP gnomAD v4
16g.74636414A>CCA396761607RFWD3c.1358T>G (p.Met453Arg)
c.524T>G (p.Met175Arg)
16g.74636414A>GCA396761609RFWD3c.1358T>C (p.Met453Thr)
c.524T>C (p.Met175Thr)
16g.74636414A>TCA396761611RFWD3c.1358T>A (p.Met453Lys)
c.524T>A (p.Met175Lys)
16g.74636415T>ACA396761616RFWD3c.1357A>T (p.Met453Leu)
c.523A>T (p.Met175Leu)
16g.74636415T>CCA396761612RFWD3c.1357A>G (p.Met453Val)
c.523A>G (p.Met175Val)
ClinVar gnomAD v4
16g.74636415T>GCA396761614RFWD3c.1357A>C (p.Met453Leu)
c.523A>C (p.Met175Leu)
16g.74636416G>ACA496542569RFWD3c.1356C>T (p.Ile452=)
c.522C>T (p.Ile174=)
16g.74636416G>CCA396761618RFWD3c.1356C>G (p.Ile452Met)
c.522C>G (p.Ile174Met)
16g.74636416G>TCA496542572RFWD3c.1356C>A (p.Ile452=)
c.522C>A (p.Ile174=)
16g.74636417A>CCA396761621RFWD3c.1355T>G (p.Ile452Ser)
c.521T>G (p.Ile174Ser)
16g.74636417A>GCA396761623RFWD3c.1355T>C (p.Ile452Thr)
c.521T>C (p.Ile174Thr)
16g.74636417A>TCA396761625RFWD3c.1355T>A (p.Ile452Asn)
c.521T>A (p.Ile174Asn)
gnomAD v4
16g.74636418T>ACA396761627RFWD3c.1354A>T (p.Ile452Phe)
c.520A>T (p.Ile174Phe)
16g.74636418T>CCA396761629RFWD3c.1354A>G (p.Ile452Val)
c.520A>G (p.Ile174Val)
16g.74636418T>GCA396761630RFWD3c.1354A>C (p.Ile452Leu)
c.520A>C (p.Ile174Leu)
gnomAD v4
16g.74636419C>ACA8169241RFWD3c.1353G>T (p.Arg451=)
c.519G>T (p.Arg173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636419C=CA2232905934RFWD3c.1353G= (p.Arg451=)
c.519G= (p.Arg173=)
16g.74636419C>GCA8169240RFWD3c.1353G>C (p.Arg451=)
c.519G>C (p.Arg173=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636419C>TCA496542585RFWD3c.1353G>A (p.Arg451=)
c.519G>A (p.Arg173=)
16g.74636420C>ACA396761634RFWD3c.1352G>T (p.Arg451Leu)
c.518G>T (p.Arg173Leu)
ClinVar dbSNP
16g.74636420C=CA2232905935RFWD3c.1352G= (p.Arg451=)
c.518G= (p.Arg173=)
16g.74636420C>GCA396761636RFWD3c.1352G>C (p.Arg451Pro)
c.518G>C (p.Arg173Pro)
16g.74636420C>TCA8169242RFWD3c.1352G>A (p.Arg451Gln)
c.518G>A (p.Arg173Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.74636421G>ACA8169243RFWD3c.1351C>T (p.Arg451Trp)
c.517C>T (p.Arg173Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636421G>CCA396761640RFWD3c.1351C>G (p.Arg451Gly)
c.517C>G (p.Arg173Gly)
16g.74636421G=CA2232905936RFWD3c.1351C= (p.Arg451=)
c.517C= (p.Arg173=)
16g.74636421G>TCA496542592RFWD3c.1351C>A (p.Arg451=)
c.517C>A (p.Arg173=)
16g.74636422G>ACA8169244RFWD3c.1350C>T (p.Cys450=)
c.516C>T (p.Cys172=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636422G>CCA396761642RFWD3c.1350C>G (p.Cys450Trp)
c.516C>G (p.Cys172Trp)
16g.74636422G=CA2232905937RFWD3c.1350C= (p.Cys450=)
c.516C= (p.Cys172=)
16g.74636422G>TCA396761644RFWD3c.1350C>A (p.Cys450Ter)
c.516C>A (p.Cys172Ter)
16g.74636423C>ACA396761646RFWD3c.1349G>T (p.Cys450Phe)
c.515G>T (p.Cys172Phe)
16g.74636423C>GCA396761648RFWD3c.1349G>C (p.Cys450Ser)
c.515G>C (p.Cys172Ser)
16g.74636423C>TCA396761650RFWD3c.1349G>A (p.Cys450Tyr)
c.515G>A (p.Cys172Tyr)
16g.74636424A>CCA396761652RFWD3c.1348T>G (p.Cys450Gly)
c.514T>G (p.Cys172Gly)
16g.74636424A>GCA396761654RFWD3c.1348T>C (p.Cys450Arg)
c.514T>C (p.Cys172Arg)
16g.74636424A>TCA396761656RFWD3c.1348T>A (p.Cys450Ser)
c.514T>A (p.Cys172Ser)
16g.74636425G>ACA8169245RFWD3c.1347C>T (p.Asn449=)
c.513C>T (p.Asn171=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636425G>CCA396761660RFWD3c.1347C>G (p.Asn449Lys)
c.513C>G (p.Asn171Lys)
16g.74636425G=CA2232905938RFWD3c.1347C= (p.Asn449=)
c.513C= (p.Asn171=)
16g.74636425G>TCA396761661RFWD3c.1347C>A (p.Asn449Lys)
c.513C>A (p.Asn171Lys)
16g.74636426T>ACA396761664RFWD3c.1346A>T (p.Asn449Ile)
c.512A>T (p.Asn171Ile)
16g.74636426T>CCA396761666RFWD3c.1346A>G (p.Asn449Ser)
c.512A>G (p.Asn171Ser)
16g.74636426T>GCA396761667RFWD3c.1346A>C (p.Asn449Thr)
c.512A>C (p.Asn171Thr)
16g.74636427T>ACA396761669RFWD3c.1345A>T (p.Asn449Tyr)
c.511A>T (p.Asn171Tyr)
16g.74636427T>CCA396761673RFWD3c.1345A>G (p.Asn449Asp)
c.511A>G (p.Asn171Asp)
16g.74636427T>GCA396761671RFWD3c.1345A>C (p.Asn449His)
c.511A>C (p.Asn171His)
16g.74636428T>ACA496542619RFWD3c.1344A>T (p.Gly448=)
c.510A>T (p.Gly170=)
16g.74636428T>CCA496542618RFWD3c.1344A>G (p.Gly448=)
c.510A>G (p.Gly170=)
16g.74636428T>GCA496542616RFWD3c.1344A>C (p.Gly448=)
c.510A>C (p.Gly170=)
16g.74636429C>ACA396761676RFWD3c.1343G>T (p.Gly448Val)
c.509G>T (p.Gly170Val)
gnomAD v4
16g.74636429C>GCA396761679RFWD3c.1343G>C (p.Gly448Ala)
c.509G>C (p.Gly170Ala)
16g.74636429C>TCA396761678RFWD3c.1343G>A (p.Gly448Glu)
c.509G>A (p.Gly170Glu)
16g.74636430C>ACA396761680RFWD3c.1342G>T (p.Gly448Ter)
c.508G>T (p.Gly170Ter)
dbSNP
16g.74636430C=CA2232905939RFWD3c.1342G= (p.Gly448=)
c.508G= (p.Gly170=)
16g.74636430C>GCA396761682RFWD3c.1342G>C (p.Gly448Arg)
c.508G>C (p.Gly170Arg)
16g.74636430C>TCA396761684RFWD3c.1342G>A (p.Gly448Arg)
c.508G>A (p.Gly170Arg)
16g.74636431T>ACA496542633RFWD3c.1341A>T (p.Ala447=)
c.507A>T (p.Ala169=)
16g.74636431T>CCA496542631RFWD3c.1341A>G (p.Ala447=)
c.507A>G (p.Ala169=)
gnomAD v4
16g.74636431T>GCA496542629RFWD3c.1341A>C (p.Ala447=)
c.507A>C (p.Ala169=)
16g.74636432G>ACA396761686RFWD3c.1340C>T (p.Ala447Val)
c.506C>T (p.Ala169Val)
16g.74636432G>CCA8169246RFWD3c.1340C>G (p.Ala447Gly)
c.506C>G (p.Ala169Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636432G=CA2232905940RFWD3c.1340C= (p.Ala447=)
c.506C= (p.Ala169=)
16g.74636432G>TCA396761689RFWD3c.1340C>A (p.Ala447Glu)
c.506C>A (p.Ala169Glu)
16g.74636433C>ACA396761692RFWD3c.1339G>T (p.Ala447Ser)
c.505G>T (p.Ala169Ser)
16g.74636433C>GCA396761693RFWD3c.1339G>C (p.Ala447Pro)
c.505G>C (p.Ala169Pro)
16g.74636433C>TCA396761695RFWD3c.1339G>A (p.Ala447Thr)
c.505G>A (p.Ala169Thr)
ClinVar
16g.74636434C>ACA8169248RFWD3c.1338G>T (p.Gln446His)
c.504G>T (p.Gln168His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636434C=CA2232905941RFWD3c.1338G= (p.Gln446=)
c.504G= (p.Gln168=)
16g.74636434C>GCA396761698RFWD3c.1338G>C (p.Gln446His)
c.504G>C (p.Gln168His)
16g.74636434C>TCA8169247RFWD3c.1338G>A (p.Gln446=)
c.504G>A (p.Gln168=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636435T>ACA396761702RFWD3c.1337A>T (p.Gln446Leu)
c.503A>T (p.Gln168Leu)
dbSNP gnomAD v4
16g.74636435T>CCA396761705RFWD3c.1337A>G (p.Gln446Arg)
c.503A>G (p.Gln168Arg)
dbSNP gnomAD v3 gnomAD v4
16g.74636435T>GCA396761703RFWD3c.1337A>C (p.Gln446Pro)
c.503A>C (p.Gln168Pro)
gnomAD v3 gnomAD v4
16g.74636435T=CA2232905942RFWD3c.1337A= (p.Gln446=)
c.503A= (p.Gln168=)
16g.74636436G>ACA396761708RFWD3c.1336C>T (p.Gln446Ter)
c.502C>T (p.Gln168Ter)
16g.74636436G>CCA396761709RFWD3c.1336C>G (p.Gln446Glu)
c.502C>G (p.Gln168Glu)
16g.74636436G>TCA396761710RFWD3c.1336C>A (p.Gln446Lys)
c.502C>A (p.Gln168Lys)
16g.74636437A=CA2232905943RFWD3c.1335T= (p.Ser445=)
c.501T= (p.Ser167=)
16g.74636437A>CCA496542648RFWD3c.1335T>G (p.Ser445=)
c.501T>G (p.Ser167=)
16g.74636437A>GCA283745817RFWD3c.1335T>C (p.Ser445=)
c.501T>C (p.Ser167=)
dbSNP
16g.74636437A>TCA496542652RFWD3c.1335T>A (p.Ser445=)
c.501T>A (p.Ser167=)
16g.74636438G>ACA396761713RFWD3c.1334C>T (p.Ser445Phe)
c.500C>T (p.Ser167Phe)
dbSNP
16g.74636438G>CCA283745821RFWD3c.1334C>G (p.Ser445Cys)
c.500C>G (p.Ser167Cys)
dbSNP COSMIC
16g.74636438G=CA2232905944RFWD3c.1334C= (p.Ser445=)
c.500C= (p.Ser167=)
16g.74636438G>TCA396761717RFWD3c.1334C>A (p.Ser445Tyr)
c.500C>A (p.Ser167Tyr)
16g.74636439A>CCA396761719RFWD3c.1333T>G (p.Ser445Ala)
c.499T>G (p.Ser167Ala)
16g.74636439A>GCA396761721RFWD3c.1333T>C (p.Ser445Pro)
c.499T>C (p.Ser167Pro)
16g.74636439A>TCA396761722RFWD3c.1333T>A (p.Ser445Thr)
c.499T>A (p.Ser167Thr)
16g.74636440_74636441dupCA2634278646RFWD3c.1332_1333dup (p.Ser445TyrfsTer16)
c.498_499dup (p.Ser167TyrfsTer16)
gnomAD v4
16g.74636440T>ACA496542661RFWD3c.1332A>T (p.Val444=)
c.498A>T (p.Val166=)
16g.74636440T>CCA496542663RFWD3c.1332A>G (p.Val444=)
c.498A>G (p.Val166=)
dbSNP gnomAD v2 gnomAD v4
16g.74636440T>GCA496542665RFWD3c.1332A>C (p.Val444=)
c.498A>C (p.Val166=)
16g.74636440T=CA2232905945RFWD3c.1332A= (p.Val444=)
c.498A= (p.Val166=)
16g.74636441A>CCA396761727RFWD3c.1331T>G (p.Val444Gly)
c.497T>G (p.Val166Gly)
16g.74636441A>GCA396761730RFWD3c.1331T>C (p.Val444Ala)
c.497T>C (p.Val166Ala)
gnomAD v4
16g.74636441A>TCA396761726RFWD3c.1331T>A (p.Val444Glu)
c.497T>A (p.Val166Glu)
16g.74636442C>ACA396761732RFWD3c.1330G>T (p.Val444Leu)
c.496G>T (p.Val166Leu)
16g.74636442C>GCA396761734RFWD3c.1330G>C (p.Val444Leu)
c.496G>C (p.Val166Leu)
16g.74636442C>TCA396761736RFWD3c.1330G>A (p.Val444Ile)
c.496G>A (p.Val166Ile)
COSMIC
16g.74636443T>ACA496542675RFWD3c.1329A>T (p.Thr443=)
c.495A>T (p.Thr165=)
16g.74636443T>CCA496542676RFWD3c.1329A>G (p.Thr443=)
c.495A>G (p.Thr165=)
ClinVar dbSNP
16g.74636443T>GCA496542678RFWD3c.1329A>C (p.Thr443=)
c.495A>C (p.Thr165=)
16g.74636443T=CA2232905946RFWD3c.1329A= (p.Thr443=)
c.495A= (p.Thr165=)
16g.74636444G>ACA396761738RFWD3c.1328C>T (p.Thr443Ile)
c.494C>T (p.Thr165Ile)
gnomAD v4
16g.74636444G>CCA396761740RFWD3c.1328C>G (p.Thr443Arg)
c.494C>G (p.Thr165Arg)
gnomAD v4
16g.74636444G=CA2232905947RFWD3c.1328C= (p.Thr443=)
c.494C= (p.Thr165=)
16g.74636444G>TCA396761741RFWD3c.1328C>A (p.Thr443Lys)
c.494C>A (p.Thr165Lys)
dbSNP gnomAD v4
16g.74636445T>ACA396761745RFWD3c.1327A>T (p.Thr443Ser)
c.493A>T (p.Thr165Ser)
gnomAD v4
16g.74636445T>CCA8169249RFWD3c.1327A>G (p.Thr443Ala)
c.493A>G (p.Thr165Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636445T>GCA396761744RFWD3c.1327A>C (p.Thr443Pro)
c.493A>C (p.Thr165Pro)
16g.74636445T=CA2232905948RFWD3c.1327A= (p.Thr443=)
c.493A= (p.Thr165=)
16g.74636446G>ACA283745826RFWD3c.1326C>T (p.Phe442=)
c.492C>T (p.Phe164=)
dbSNP gnomAD v3 gnomAD v4
16g.74636446G>CCA396761748RFWD3c.1326C>G (p.Phe442Leu)
c.492C>G (p.Phe164Leu)
16g.74636446G=CA2232905949RFWD3c.1326C= (p.Phe442=)
c.492C= (p.Phe164=)
16g.74636446G>TCA396761750RFWD3c.1326C>A (p.Phe442Leu)
c.492C>A (p.Phe164Leu)
16g.74636447A>CCA396761752RFWD3c.1325T>G (p.Phe442Cys)
c.491T>G (p.Phe164Cys)
16g.74636447A>GCA396761754RFWD3c.1325T>C (p.Phe442Ser)
c.491T>C (p.Phe164Ser)
16g.74636447A>TCA396761755RFWD3c.1325T>A (p.Phe442Tyr)
c.491T>A (p.Phe164Tyr)
16g.74636448A=CA2232905950RFWD3c.1324T= (p.Phe442=)
c.490T= (p.Phe164=)
16g.74636448A>CCA396761757RFWD3c.1324T>G (p.Phe442Val)
c.490T>G (p.Phe164Val)
16g.74636448A>GCA396761761RFWD3c.1324T>C (p.Phe442Leu)
c.490T>C (p.Phe164Leu)
dbSNP
16g.74636448A>TCA396761759RFWD3c.1324T>A (p.Phe442Ile)
c.490T>A (p.Phe164Ile)
16g.74636449G>ACA496542698RFWD3c.1323C>T (p.Thr441=)
c.489C>T (p.Thr163=)
gnomAD v4
16g.74636449G>CCA496542700RFWD3c.1323C>G (p.Thr441=)
c.489C>G (p.Thr163=)
16g.74636449G>TCA496542701RFWD3c.1323C>A (p.Thr441=)
c.489C>A (p.Thr163=)
16g.74636450G>ACA396761763RFWD3c.1322C>T (p.Thr441Ile)
c.488C>T (p.Thr163Ile)
dbSNP gnomAD v3 gnomAD v4
16g.74636450G>CCA396761765RFWD3c.1322C>G (p.Thr441Ser)
c.488C>G (p.Thr163Ser)
gnomAD v4
16g.74636450G=CA2232905951RFWD3c.1322C= (p.Thr441=)
c.488C= (p.Thr163=)
16g.74636450G>TCA396761767RFWD3c.1322C>A (p.Thr441Asn)
c.488C>A (p.Thr163Asn)
16g.74636451T>ACA396761769RFWD3c.1321A>T (p.Thr441Ser)
c.487A>T (p.Thr163Ser)
16g.74636451T>CCA396761771RFWD3c.1321A>G (p.Thr441Ala)
c.487A>G (p.Thr163Ala)
16g.74636451T>GCA396761773RFWD3c.1321A>C (p.Thr441Pro)
c.487A>C (p.Thr163Pro)
16g.74636452C>ACA396761775RFWD3c.1320G>T (p.Lys440Asn)
c.486G>T (p.Lys162Asn)
16g.74636452C=CA2232905952RFWD3c.1320G= (p.Lys440=)
c.486G= (p.Lys162=)
16g.74636452C>GCA8169251RFWD3c.1320G>C (p.Lys440Asn)
c.486G>C (p.Lys162Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636452C>TCA8169250RFWD3c.1320G>A (p.Lys440=)
c.486G>A (p.Lys162=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636453T>ACA396761780RFWD3c.1319A>T (p.Lys440Met)
c.485A>T (p.Lys162Met)
16g.74636453T>CCA396761781RFWD3c.1319A>G (p.Lys440Arg)
c.485A>G (p.Lys162Arg)
gnomAD v4
16g.74636453T>GCA396761783RFWD3c.1319A>C (p.Lys440Thr)
c.485A>C (p.Lys162Thr)
16g.74636454T>ACA396761786RFWD3c.1318A>T (p.Lys440Ter)
c.484A>T (p.Lys162Ter)
16g.74636454T>CCA396761790RFWD3c.1318A>G (p.Lys440Glu)
c.484A>G (p.Lys162Glu)
dbSNP gnomAD v2 gnomAD v4
16g.74636454T>GCA396761788RFWD3c.1318A>C (p.Lys440Gln)
c.484A>C (p.Lys162Gln)
16g.74636454T=CA2232905953RFWD3c.1318A= (p.Lys440=)
c.484A= (p.Lys162=)
16g.74636455T>ACA396761791RFWD3c.1317A>T (p.Gln439His)
c.483A>T (p.Gln161His)
16g.74636455T>CCA496542723RFWD3c.1317A>G (p.Gln439=)
c.483A>G (p.Gln161=)
dbSNP gnomAD v2 gnomAD v4
16g.74636455T>GCA396761792RFWD3c.1317A>C (p.Gln439His)
c.483A>C (p.Gln161His)
16g.74636455T=CA2232905954RFWD3c.1317A= (p.Gln439=)
c.483A= (p.Gln161=)
16g.74636456T>ACA396761795RFWD3c.1316A>T (p.Gln439Leu)
c.482A>T (p.Gln161Leu)
gnomAD v4
16g.74636456T>CCA8169252RFWD3c.1316A>G (p.Gln439Arg)
c.482A>G (p.Gln161Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636456T>GCA396761797RFWD3c.1316A>C (p.Gln439Pro)
c.482A>C (p.Gln161Pro)
16g.74636456T=CA2232905955RFWD3c.1316A= (p.Gln439=)
c.482A= (p.Gln161=)
16g.74636457G>ACA396761801RFWD3c.1315C>T (p.Gln439Ter)
c.481C>T (p.Gln161Ter)
16g.74636457G>CCA396761802RFWD3c.1315C>G (p.Gln439Glu)
c.481C>G (p.Gln161Glu)
16g.74636457G>TCA396761803RFWD3c.1315C>A (p.Gln439Lys)
c.481C>A (p.Gln161Lys)
16g.74636458G>ACA496542734RFWD3c.1314C>T (p.Phe438=)
c.480C>T (p.Phe160=)
16g.74636458G>CCA396761805RFWD3c.1314C>G (p.Phe438Leu)
c.480C>G (p.Phe160Leu)
16g.74636458G>TCA396761807RFWD3c.1314C>A (p.Phe438Leu)
c.480C>A (p.Phe160Leu)
16g.74636459A>CCA396761809RFWD3c.1313T>G (p.Phe438Cys)
c.479T>G (p.Phe160Cys)
16g.74636459A>GCA396761811RFWD3c.1313T>C (p.Phe438Ser)
c.479T>C (p.Phe160Ser)
16g.74636459A>TCA396761813RFWD3c.1313T>A (p.Phe438Tyr)
c.479T>A (p.Phe160Tyr)
16g.74636460A=CA2232905956RFWD3c.1312T= (p.Phe438=)
c.478T= (p.Phe160=)
16g.74636460A>CCA396761816RFWD3c.1312T>G (p.Phe438Val)
c.478T>G (p.Phe160Val)
16g.74636460A>GCA8169253RFWD3c.1312T>C (p.Phe438Leu)
c.478T>C (p.Phe160Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636460A>TCA396761815RFWD3c.1312T>A (p.Phe438Ile)
c.478T>A (p.Phe160Ile)
16g.74636461G>ACA496542744RFWD3c.1311C>T (p.His437=)
c.477C>T (p.His159=)
dbSNP gnomAD v3 gnomAD v4
16g.74636461G>CCA396761818RFWD3c.1311C>G (p.His437Gln)
c.477C>G (p.His159Gln)
16g.74636461G=CA2232905957RFWD3c.1311C= (p.His437=)
c.477C= (p.His159=)
16g.74636461G>TCA396761820RFWD3c.1311C>A (p.His437Gln)
c.477C>A (p.His159Gln)
16g.74636462T>ACA396761823RFWD3c.1310A>T (p.His437Leu)
c.476A>T (p.His159Leu)
16g.74636462T>CCA396761825RFWD3c.1310A>G (p.His437Arg)
c.476A>G (p.His159Arg)
16g.74636462T>GCA396761826RFWD3c.1310A>C (p.His437Pro)
c.476A>C (p.His159Pro)
16g.74636463G>ACA396761828RFWD3c.1309C>T (p.His437Tyr)
c.475C>T (p.His159Tyr)
16g.74636463G>CCA396761830RFWD3c.1309C>G (p.His437Asp)
c.475C>G (p.His159Asp)
gnomAD v4
16g.74636463G>TCA396761831RFWD3c.1309C>A (p.His437Asn)
c.475C>A (p.His159Asn)
16g.74636464G>ACA496542751RFWD3c.1308C>T (p.Tyr436=)
c.474C>T (p.Tyr158=)
16g.74636464G>CCA396761833RFWD3c.1308C>G (p.Tyr436Ter)
c.474C>G (p.Tyr158Ter)
16g.74636464G>TCA396761835RFWD3c.1308C>A (p.Tyr436Ter)
c.474C>A (p.Tyr158Ter)
gnomAD v4
16g.74636465T>ACA396761837RFWD3c.1307A>T (p.Tyr436Phe)
c.473A>T (p.Tyr158Phe)
16g.74636465T>CCA396761839RFWD3c.1307A>G (p.Tyr436Cys)
c.473A>G (p.Tyr158Cys)
gnomAD v4
16g.74636465T>GCA396761841RFWD3c.1307A>C (p.Tyr436Ser)
c.473A>C (p.Tyr158Ser)
16g.74636466A>CCA396761847RFWD3c.1306T>G (p.Tyr436Asp)
c.472T>G (p.Tyr158Asp)
16g.74636466A>GCA396761845RFWD3c.1306T>C (p.Tyr436His)
c.472T>C (p.Tyr158His)
16g.74636466A>TCA396761843RFWD3c.1306T>A (p.Tyr436Asn)
c.472T>A (p.Tyr158Asn)
16g.74636467C>ACA396761851RFWD3c.1305G>T (p.Lys435Asn)
c.471G>T (p.Lys157Asn)
16g.74636467C>GCA396761849RFWD3c.1305G>C (p.Lys435Asn)
c.471G>C (p.Lys157Asn)
16g.74636467C>TCA496542766RFWD3c.1305G>A (p.Lys435=)
c.471G>A (p.Lys157=)
16g.74636468T>ACA396761854RFWD3c.1304A>T (p.Lys435Met)
c.470A>T (p.Lys157Met)
16g.74636468T>CCA8169255RFWD3c.1304A>G (p.Lys435Arg)
c.470A>G (p.Lys157Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636468T>GCA8169254RFWD3c.1304A>C (p.Lys435Thr)
c.470A>C (p.Lys157Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636468T=CA2232905958RFWD3c.1304A= (p.Lys435=)
c.470A= (p.Lys157=)
16g.74636469T>ACA396761856RFWD3c.1303A>T (p.Lys435Ter)
c.469A>T (p.Lys157Ter)
gnomAD v4
16g.74636469T>CCA396761858RFWD3c.1303A>G (p.Lys435Glu)
c.469A>G (p.Lys157Glu)
16g.74636469T>GCA396761860RFWD3c.1303A>C (p.Lys435Gln)
c.469A>C (p.Lys157Gln)
16g.74636470G>ACA496542775RFWD3c.1302C>T (p.His434=)
c.468C>T (p.His156=)
16g.74636470G>CCA8169256RFWD3c.1302C>G (p.His434Gln)
c.468C>G (p.His156Gln)
dbSNP ExAC gnomAD v2
16g.74636470G=CA2232905959RFWD3c.1302C= (p.His434=)
c.468C= (p.His156=)
16g.74636470G>TCA396761863RFWD3c.1302C>A (p.His434Gln)
c.468C>A (p.His156Gln)
16g.74636471T>ACA396761866RFWD3c.1301A>T (p.His434Leu)
c.467A>T (p.His156Leu)
16g.74636471T>CCA396761868RFWD3c.1301A>G (p.His434Arg)
c.467A>G (p.His156Arg)
gnomAD v4
16g.74636471T>GCA396761869RFWD3c.1301A>C (p.His434Pro)
c.467A>C (p.His156Pro)
16g.74636472G>ACA396761876RFWD3c.1300C>T (p.His434Tyr)
c.466C>T (p.His156Tyr)
16g.74636472G>CCA396761874RFWD3c.1300C>G (p.His434Asp)
c.466C>G (p.His156Asp)
gnomAD v4
16g.74636472G>TCA396761872RFWD3c.1300C>A (p.His434Asn)
c.466C>A (p.His156Asn)

Number of alleles fetched