Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41727098G>ACA8564376HAP1c.1322C>T (p.Thr441Met)
c.1478C>T (p.Thr493Met)
c.1271C>T (p.Thr424Met)
c.1247C>T (p.Thr416Met)
c.1418C>T (p.Thr473Met)
c.1382C>T (p.Thr461Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41727098G>CCA399478897HAP1c.1322C>G (p.Thr441Arg)
c.1478C>G (p.Thr493Arg)
c.1271C>G (p.Thr424Arg)
c.1247C>G (p.Thr416Arg)
c.1418C>G (p.Thr473Arg)
c.1382C>G (p.Thr461Arg)
 gnomAD v4
17g.41727098G=CA2260155211HAP1c.1322C= (p.Thr441=)
c.1478C= (p.Thr493=)
c.1271C= (p.Thr424=)
c.1247C= (p.Thr416=)
c.1418C= (p.Thr473=)
c.1382C= (p.Thr461=)
17g.41727098G>TCA399478895HAP1c.1322C>A (p.Thr441Lys)
c.1478C>A (p.Thr493Lys)
c.1271C>A (p.Thr424Lys)
c.1247C>A (p.Thr416Lys)
c.1418C>A (p.Thr473Lys)
c.1382C>A (p.Thr461Lys)
 gnomAD v4
17g.41727099T>ACA399478909HAP1c.1321A>T (p.Thr441Ser)
c.1477A>T (p.Thr493Ser)
c.1270A>T (p.Thr424Ser)
c.1246A>T (p.Thr416Ser)
c.1417A>T (p.Thr473Ser)
c.1381A>T (p.Thr461Ser)
17g.41727099T>CCA399478901HAP1c.1321A>G (p.Thr441Ala)
c.1477A>G (p.Thr493Ala)
c.1270A>G (p.Thr424Ala)
c.1246A>G (p.Thr416Ala)
c.1417A>G (p.Thr473Ala)
c.1381A>G (p.Thr461Ala)
 gnomAD v4
17g.41727099T>GCA399478906HAP1c.1321A>C (p.Thr441Pro)
c.1477A>C (p.Thr493Pro)
c.1270A>C (p.Thr424Pro)
c.1246A>C (p.Thr416Pro)
c.1417A>C (p.Thr473Pro)
c.1381A>C (p.Thr461Pro)
17g.41727100T>ACA399478912HAP1c.1320A>T (p.Arg440Ser)
c.1476A>T (p.Arg492Ser)
c.1269A>T (p.Arg423Ser)
c.1245A>T (p.Arg415Ser)
c.1416A>T (p.Arg472Ser)
c.1380A>T (p.Arg460Ser)
17g.41727100T>CCA500010381HAP1c.1320A>G (p.Arg440=)
c.1476A>G (p.Arg492=)
c.1269A>G (p.Arg423=)
c.1245A>G (p.Arg415=)
c.1416A>G (p.Arg472=)
c.1380A>G (p.Arg460=)
 dbSNP gnomAD v2 gnomAD v4
17g.41727100T>GCA399478915HAP1c.1320A>C (p.Arg440Ser)
c.1476A>C (p.Arg492Ser)
c.1269A>C (p.Arg423Ser)
c.1245A>C (p.Arg415Ser)
c.1416A>C (p.Arg472Ser)
c.1380A>C (p.Arg460Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.41727100T=CA2260155212HAP1c.1320A= (p.Arg440=)
c.1476A= (p.Arg492=)
c.1269A= (p.Arg423=)
c.1245A= (p.Arg415=)
c.1416A= (p.Arg472=)
c.1380A= (p.Arg460=)
17g.41727100_41727130delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAACA2260155213HAP1c.1290_1320delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly430=)
c.1446_1476delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly482=)
c.1239_1269delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly413=)
c.1215_1245delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly405=)
c.1386_1416delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly462=)
c.1350_1380delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA (p.Gly450=)
17g.41727101C>ACA399478918HAP1c.1319G>T (p.Arg440Ile)
c.1475G>T (p.Arg492Ile)
c.1268G>T (p.Arg423Ile)
c.1244G>T (p.Arg415Ile)
c.1415G>T (p.Arg472Ile)
c.1379G>T (p.Arg460Ile)
 gnomAD v4
17g.41727101C>GCA399478919HAP1c.1319G>C (p.Arg440Thr)
c.1475G>C (p.Arg492Thr)
c.1268G>C (p.Arg423Thr)
c.1244G>C (p.Arg415Thr)
c.1415G>C (p.Arg472Thr)
c.1379G>C (p.Arg460Thr)
17g.41727101C>TCA399478920HAP1c.1319G>A (p.Arg440Lys)
c.1475G>A (p.Arg492Lys)
c.1268G>A (p.Arg423Lys)
c.1244G>A (p.Arg415Lys)
c.1415G>A (p.Arg472Lys)
c.1379G>A (p.Arg460Lys)
17g.41727102_41727131delCA2260155214HAP1c.1290_1319del (p.Phe431_Arg440del)
c.1446_1475del (p.Phe483_Arg492del)
c.1239_1268del (p.Phe414_Arg423del)
c.1215_1244del (p.Phe406_Arg415del)
c.1386_1415del (p.Phe463_Arg472del)
c.1350_1379del (p.Phe451_Arg460del)
 dbSNP
17g.41727102T>ACA399478921HAP1c.1318A>T (p.Arg440Ter)
c.1474A>T (p.Arg492Ter)
c.1267A>T (p.Arg423Ter)
c.1243A>T (p.Arg415Ter)
c.1414A>T (p.Arg472Ter)
c.1378A>T (p.Arg460Ter)
17g.41727102T>CCA8564377HAP1c.1318A>G (p.Arg440Gly)
c.1474A>G (p.Arg492Gly)
c.1267A>G (p.Arg423Gly)
c.1243A>G (p.Arg415Gly)
c.1414A>G (p.Arg472Gly)
c.1378A>G (p.Arg460Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41727102T>GCA500010389HAP1c.1318A>C (p.Arg440=)
c.1474A>C (p.Arg492=)
c.1267A>C (p.Arg423=)
c.1243A>C (p.Arg415=)
c.1414A>C (p.Arg472=)
c.1378A>C (p.Arg460=)
17g.41727102T=CA2260155215HAP1c.1318A= (p.Arg440=)
c.1474A= (p.Arg492=)
c.1267A= (p.Arg423=)
c.1243A= (p.Arg415=)
c.1414A= (p.Arg472=)
c.1378A= (p.Arg460=)
17g.41727103G>ACA500010391HAP1c.1317C>T (p.Leu439=)
c.1473C>T (p.Leu491=)
c.1266C>T (p.Leu422=)
c.1242C>T (p.Leu414=)
c.1413C>T (p.Leu471=)
c.1377C>T (p.Leu459=)
 gnomAD v4
17g.41727103G>CCA500010393HAP1c.1317C>G (p.Leu439=)
c.1473C>G (p.Leu491=)
c.1266C>G (p.Leu422=)
c.1242C>G (p.Leu414=)
c.1413C>G (p.Leu471=)
c.1377C>G (p.Leu459=)
17g.41727103G>TCA500010395HAP1c.1317C>A (p.Leu439=)
c.1473C>A (p.Leu491=)
c.1266C>A (p.Leu422=)
c.1242C>A (p.Leu414=)
c.1413C>A (p.Leu471=)
c.1377C>A (p.Leu459=)
 gnomAD v4
17g.41727104A>CCA399478923HAP1c.1316T>G (p.Leu439Arg)
c.1472T>G (p.Leu491Arg)
c.1265T>G (p.Leu422Arg)
c.1241T>G (p.Leu414Arg)
c.1412T>G (p.Leu471Arg)
c.1376T>G (p.Leu459Arg)
 dbSNP
17g.41727104A>GCA399478924HAP1c.1316T>C (p.Leu439Pro)
c.1472T>C (p.Leu491Pro)
c.1265T>C (p.Leu422Pro)
c.1241T>C (p.Leu414Pro)
c.1412T>C (p.Leu471Pro)
c.1376T>C (p.Leu459Pro)
 gnomAD v4
17g.41727104A>TCA399478925HAP1c.1316T>A (p.Leu439His)
c.1472T>A (p.Leu491His)
c.1265T>A (p.Leu422His)
c.1241T>A (p.Leu414His)
c.1412T>A (p.Leu471His)
c.1376T>A (p.Leu459His)
 gnomAD v4
17g.41727105G>ACA399478927HAP1c.1315C>T (p.Leu439Phe)
c.1471C>T (p.Leu491Phe)
c.1264C>T (p.Leu422Phe)
c.1240C>T (p.Leu414Phe)
c.1411C>T (p.Leu471Phe)
c.1375C>T (p.Leu459Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.41727105G>CCA399478929HAP1c.1315C>G (p.Leu439Val)
c.1471C>G (p.Leu491Val)
c.1264C>G (p.Leu422Val)
c.1240C>G (p.Leu414Val)
c.1411C>G (p.Leu471Val)
c.1375C>G (p.Leu459Val)
17g.41727105G=CA2260155216HAP1c.1315C= (p.Leu439=)
c.1471C= (p.Leu491=)
c.1264C= (p.Leu422=)
c.1240C= (p.Leu414=)
c.1411C= (p.Leu471=)
c.1375C= (p.Leu459=)
17g.41727105G>TCA399478926HAP1c.1315C>A (p.Leu439Ile)
c.1471C>A (p.Leu491Ile)
c.1264C>A (p.Leu422Ile)
c.1240C>A (p.Leu414Ile)
c.1411C>A (p.Leu471Ile)
c.1375C>A (p.Leu459Ile)
 gnomAD v4
17g.41727106C>ACA399478941HAP1c.1314G>T (p.Glu438Asp)
c.1470G>T (p.Glu490Asp)
c.1263G>T (p.Glu421Asp)
c.1239G>T (p.Glu413Asp)
c.1410G>T (p.Glu470Asp)
c.1374G>T (p.Glu458Asp)
 dbSNP gnomAD v4
17g.41727106C=CA2260155217HAP1c.1314G= (p.Glu438=)
c.1470G= (p.Glu490=)
c.1263G= (p.Glu421=)
c.1239G= (p.Glu413=)
c.1410G= (p.Glu470=)
c.1374G= (p.Glu458=)
17g.41727106C>GCA399478955HAP1c.1314G>C (p.Glu438Asp)
c.1470G>C (p.Glu490Asp)
c.1263G>C (p.Glu421Asp)
c.1239G>C (p.Glu413Asp)
c.1410G>C (p.Glu470Asp)
c.1374G>C (p.Glu458Asp)
17g.41727106C>TCA500010403HAP1c.1314G>A (p.Glu438=)
c.1470G>A (p.Glu490=)
c.1263G>A (p.Glu421=)
c.1239G>A (p.Glu413=)
c.1410G>A (p.Glu470=)
c.1374G>A (p.Glu458=)
 dbSNP gnomAD v3 gnomAD v4
17g.41727107T>ACA399478956HAP1c.1313A>T (p.Glu438Val)
c.1469A>T (p.Glu490Val)
c.1262A>T (p.Glu421Val)
c.1238A>T (p.Glu413Val)
c.1409A>T (p.Glu470Val)
c.1373A>T (p.Glu458Val)
17g.41727107T>CCA399478957HAP1c.1313A>G (p.Glu438Gly)
c.1469A>G (p.Glu490Gly)
c.1262A>G (p.Glu421Gly)
c.1238A>G (p.Glu413Gly)
c.1409A>G (p.Glu470Gly)
c.1373A>G (p.Glu458Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.41727107T>GCA399478958HAP1c.1313A>C (p.Glu438Ala)
c.1469A>C (p.Glu490Ala)
c.1262A>C (p.Glu421Ala)
c.1238A>C (p.Glu413Ala)
c.1409A>C (p.Glu470Ala)
c.1373A>C (p.Glu458Ala)
17g.41727107T=CA2260155218HAP1c.1313A= (p.Glu438=)
c.1469A= (p.Glu490=)
c.1262A= (p.Glu421=)
c.1238A= (p.Glu413=)
c.1409A= (p.Glu470=)
c.1373A= (p.Glu458=)
17g.41727108C>ACA399478964HAP1c.1312G>T (p.Glu438Ter)
c.1468G>T (p.Glu490Ter)
c.1261G>T (p.Glu421Ter)
c.1237G>T (p.Glu413Ter)
c.1408G>T (p.Glu470Ter)
c.1372G>T (p.Glu458Ter)
 gnomAD v4
17g.41727108C>GCA399478960HAP1c.1312G>C (p.Glu438Gln)
c.1468G>C (p.Glu490Gln)
c.1261G>C (p.Glu421Gln)
c.1237G>C (p.Glu413Gln)
c.1408G>C (p.Glu470Gln)
c.1372G>C (p.Glu458Gln)
17g.41727108C>TCA399478962HAP1c.1312G>A (p.Glu438Lys)
c.1468G>A (p.Glu490Lys)
c.1261G>A (p.Glu421Lys)
c.1237G>A (p.Glu413Lys)
c.1408G>A (p.Glu470Lys)
c.1372G>A (p.Glu458Lys)
17g.41727109C>ACA399478966HAP1c.1311G>T (p.Glu437Asp)
c.1467G>T (p.Glu489Asp)
c.1260G>T (p.Glu420Asp)
c.1236G>T (p.Glu412Asp)
c.1407G>T (p.Glu469Asp)
c.1371G>T (p.Glu457Asp)
 gnomAD v4
17g.41727109C>GCA399478968HAP1c.1311G>C (p.Glu437Asp)
c.1467G>C (p.Glu489Asp)
c.1260G>C (p.Glu420Asp)
c.1236G>C (p.Glu412Asp)
c.1407G>C (p.Glu469Asp)
c.1371G>C (p.Glu457Asp)
17g.41727109C>TCA500010413HAP1c.1311G>A (p.Glu437=)
c.1467G>A (p.Glu489=)
c.1260G>A (p.Glu420=)
c.1236G>A (p.Glu412=)
c.1407G>A (p.Glu469=)
c.1371G>A (p.Glu457=)
 gnomAD v4
17g.41727110T>ACA399478970HAP1c.1310A>T (p.Glu437Val)
c.1466A>T (p.Glu489Val)
c.1259A>T (p.Glu420Val)
c.1235A>T (p.Glu412Val)
c.1406A>T (p.Glu469Val)
c.1370A>T (p.Glu457Val)
 gnomAD v4
17g.41727110T>CCA399478972HAP1c.1310A>G (p.Glu437Gly)
c.1466A>G (p.Glu489Gly)
c.1259A>G (p.Glu420Gly)
c.1235A>G (p.Glu412Gly)
c.1406A>G (p.Glu469Gly)
c.1370A>G (p.Glu457Gly)
 gnomAD v4
17g.41727110T>GCA399478975HAP1c.1310A>C (p.Glu437Ala)
c.1466A>C (p.Glu489Ala)
c.1259A>C (p.Glu420Ala)
c.1235A>C (p.Glu412Ala)
c.1406A>C (p.Glu469Ala)
c.1370A>C (p.Glu457Ala)
17g.41727111C>ACA399478982HAP1c.1309G>T (p.Glu437Ter)
c.1465G>T (p.Glu489Ter)
c.1258G>T (p.Glu420Ter)
c.1234G>T (p.Glu412Ter)
c.1405G>T (p.Glu469Ter)
c.1369G>T (p.Glu457Ter)
 gnomAD v4 COSMIC COSMIC
17g.41727111C=CA2260155219HAP1c.1309G= (p.Glu437=)
c.1465G= (p.Glu489=)
c.1258G= (p.Glu420=)
c.1234G= (p.Glu412=)
c.1405G= (p.Glu469=)
c.1369G= (p.Glu457=)
17g.41727111C>GCA399478979HAP1c.1309G>C (p.Glu437Gln)
c.1465G>C (p.Glu489Gln)
c.1258G>C (p.Glu420Gln)
c.1234G>C (p.Glu412Gln)
c.1405G>C (p.Glu469Gln)
c.1369G>C (p.Glu457Gln)

Number of alleles fetched