Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.93923321G>ACA371696380PDP1c.1262G>A (p.Trp421Ter)
c.1337G>A (p.Trp446Ter)
c.1316G>A (p.Trp439Ter)
c.1424G>A (p.Trp475Ter)
8g.93923321G>CCA371696381PDP1c.1262G>C (p.Trp421Ser)
c.1337G>C (p.Trp446Ser)
c.1316G>C (p.Trp439Ser)
c.1424G>C (p.Trp475Ser)
8g.93923321G>TCA371696382PDP1c.1262G>T (p.Trp421Leu)
c.1337G>T (p.Trp446Leu)
c.1316G>T (p.Trp439Leu)
c.1424G>T (p.Trp475Leu)
8g.93923322G>ACA16605443PDP1c.1263G>A (p.Trp421Ter)
c.1338G>A (p.Trp446Ter)
c.1317G>A (p.Trp439Ter)
c.1425G>A (p.Trp475Ter)
 ClinVar dbSNP
8g.93923322G>CCA371696383PDP1c.1263G>C (p.Trp421Cys)
c.1338G>C (p.Trp446Cys)
c.1317G>C (p.Trp439Cys)
c.1425G>C (p.Trp475Cys)
8g.93923322G=CA1803280904PDP1c.1263G= (p.Trp421=)
c.1338G= (p.Trp446=)
c.1317G= (p.Trp439=)
c.1425G= (p.Trp475=)
8g.93923322G>TCA371696384PDP1c.1263G>T (p.Trp421Cys)
c.1338G>T (p.Trp446Cys)
c.1317G>T (p.Trp439Cys)
c.1425G>T (p.Trp475Cys)
8g.93923323G>ACA371696387PDP1c.1264G>A (p.Glu422Lys)
c.1339G>A (p.Glu447Lys)
c.1318G>A (p.Glu440Lys)
c.1426G>A (p.Glu476Lys)
8g.93923323G>CCA371696386PDP1c.1264G>C (p.Glu422Gln)
c.1339G>C (p.Glu447Gln)
c.1318G>C (p.Glu440Gln)
c.1426G>C (p.Glu476Gln)
8g.93923323G>TCA371696385PDP1c.1264G>T (p.Glu422Ter)
c.1339G>T (p.Glu447Ter)
c.1318G>T (p.Glu440Ter)
c.1426G>T (p.Glu476Ter)
8g.93923324A>CCA371696388PDP1c.1265A>C (p.Glu422Ala)
c.1340A>C (p.Glu447Ala)
c.1319A>C (p.Glu440Ala)
c.1427A>C (p.Glu476Ala)
8g.93923324A>GCA371696389PDP1c.1265A>G (p.Glu422Gly)
c.1340A>G (p.Glu447Gly)
c.1319A>G (p.Glu440Gly)
c.1427A>G (p.Glu476Gly)
8g.93923324A>TCA371696392PDP1c.1265A>T (p.Glu422Val)
c.1340A>T (p.Glu447Val)
c.1319A>T (p.Glu440Val)
c.1427A>T (p.Glu476Val)
8g.93923325G>ACA462118151PDP1c.1266G>A (p.Glu422=)
c.1341G>A (p.Glu447=)
c.1320G>A (p.Glu440=)
c.1428G>A (p.Glu476=)
8g.93923325G>CCA371696394PDP1c.1266G>C (p.Glu422Asp)
c.1341G>C (p.Glu447Asp)
c.1320G>C (p.Glu440Asp)
c.1428G>C (p.Glu476Asp)
8g.93923325G>TCA371696395PDP1c.1266G>T (p.Glu422Asp)
c.1341G>T (p.Glu447Asp)
c.1320G>T (p.Glu440Asp)
c.1428G>T (p.Glu476Asp)
8g.93923326A=CA1803280905PDP1c.1267A= (p.Thr423=)
c.1342A= (p.Thr448=)
c.1321A= (p.Thr441=)
c.1429A= (p.Thr477=)
8g.93923326A>CCA371696397PDP1c.1267A>C (p.Thr423Pro)
c.1342A>C (p.Thr448Pro)
c.1321A>C (p.Thr441Pro)
c.1429A>C (p.Thr477Pro)
8g.93923326A>GCA4808800PDP1c.1267A>G (p.Thr423Ala)
c.1342A>G (p.Thr448Ala)
c.1321A>G (p.Thr441Ala)
c.1429A>G (p.Thr477Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923326A>TCA371696399PDP1c.1267A>T (p.Thr423Ser)
c.1342A>T (p.Thr448Ser)
c.1321A>T (p.Thr441Ser)
c.1429A>T (p.Thr477Ser)
8g.93923327C>ACA371696401PDP1c.1268C>A (p.Thr423Asn)
c.1343C>A (p.Thr448Asn)
c.1322C>A (p.Thr441Asn)
c.1430C>A (p.Thr477Asn)
 ClinVar dbSNP
8g.93923327C>GCA371696406PDP1c.1268C>G (p.Thr423Ser)
c.1343C>G (p.Thr448Ser)
c.1322C>G (p.Thr441Ser)
c.1430C>G (p.Thr477Ser)
8g.93923327C>TCA371696408PDP1c.1268C>T (p.Thr423Ile)
c.1343C>T (p.Thr448Ile)
c.1322C>T (p.Thr441Ile)
c.1430C>T (p.Thr477Ile)
 gnomAD v4
8g.93923327_93923329delinsCTACA1803280906PDP1c.1268_1270delinsCTA (p.Thr423=)
c.1343_1345delinsCTA (p.Thr448=)
c.1322_1324delinsCTA (p.Thr441=)
c.1430_1432delinsCTA (p.Thr477=)
8g.93923328T>ACA462118152PDP1c.1269T>A (p.Thr423=)
c.1344T>A (p.Thr448=)
c.1323T>A (p.Thr441=)
c.1431T>A (p.Thr477=)
8g.93923328T>CCA462118153PDP1c.1269T>C (p.Thr423=)
c.1344T>C (p.Thr448=)
c.1323T>C (p.Thr441=)
c.1431T>C (p.Thr477=)
8g.93923328T>GCA462118154PDP1c.1269T>G (p.Thr423=)
c.1344T>G (p.Thr448=)
c.1323T>G (p.Thr441=)
c.1431T>G (p.Thr477=)
8g.93923329_93923330delCA583844356PDP1c.1270_1271del (p.Met424AlafsTer2)
c.1345_1346del (p.Met449AlafsTer2)
c.1324_1325del (p.Met442AlafsTer2)
c.1432_1433del (p.Met478AlafsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923329A=CA1803280907PDP1c.1270A= (p.Met424=)
c.1345A= (p.Met449=)
c.1324A= (p.Met442=)
c.1432A= (p.Met478=)
8g.93923329A>CCA371696411PDP1c.1270A>C (p.Met424Leu)
c.1345A>C (p.Met449Leu)
c.1324A>C (p.Met442Leu)
c.1432A>C (p.Met478Leu)
 gnomAD v4
8g.93923329A>GCA371696412PDP1c.1270A>G (p.Met424Val)
c.1345A>G (p.Met449Val)
c.1324A>G (p.Met442Val)
c.1432A>G (p.Met478Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.93923329A>TCA371696414PDP1c.1270A>T (p.Met424Leu)
c.1345A>T (p.Met449Leu)
c.1324A>T (p.Met442Leu)
c.1432A>T (p.Met478Leu)
8g.93923330T>ACA371696418PDP1c.1271T>A (p.Met424Lys)
c.1346T>A (p.Met449Lys)
c.1325T>A (p.Met442Lys)
c.1433T>A (p.Met478Lys)
8g.93923330T>CCA371696419PDP1c.1271T>C (p.Met424Thr)
c.1346T>C (p.Met449Thr)
c.1325T>C (p.Met442Thr)
c.1433T>C (p.Met478Thr)
8g.93923330T>GCA371696416PDP1c.1271T>G (p.Met424Arg)
c.1346T>G (p.Met449Arg)
c.1325T>G (p.Met442Arg)
c.1433T>G (p.Met478Arg)
8g.93923331G>ACA371696422PDP1c.1272G>A (p.Met424Ile)
c.1347G>A (p.Met449Ile)
c.1326G>A (p.Met442Ile)
c.1434G>A (p.Met478Ile)
 gnomAD v4
8g.93923331G>CCA371696423PDP1c.1272G>C (p.Met424Ile)
c.1347G>C (p.Met449Ile)
c.1326G>C (p.Met442Ile)
c.1434G>C (p.Met478Ile)
8g.93923331G>TCA371696425PDP1c.1272G>T (p.Met424Ile)
c.1347G>T (p.Met449Ile)
c.1326G>T (p.Met442Ile)
c.1434G>T (p.Met478Ile)
8g.93923332C>ACA371696426PDP1c.1273C>A (p.His425Asn)
c.1348C>A (p.His450Asn)
c.1327C>A (p.His443Asn)
c.1435C>A (p.His479Asn)
8g.93923332C>GCA371696428PDP1c.1273C>G (p.His425Asp)
c.1348C>G (p.His450Asp)
c.1327C>G (p.His443Asp)
c.1435C>G (p.His479Asp)
8g.93923332C>TCA371696430PDP1c.1273C>T (p.His425Tyr)
c.1348C>T (p.His450Tyr)
c.1327C>T (p.His443Tyr)
c.1435C>T (p.His479Tyr)
 COSMIC COSMIC
8g.93923333A=CA1803280908PDP1c.1274A= (p.His425=)
c.1349A= (p.His450=)
c.1328A= (p.His443=)
c.1436A= (p.His479=)
8g.93923333A>CCA371696432PDP1c.1274A>C (p.His425Pro)
c.1349A>C (p.His450Pro)
c.1328A>C (p.His443Pro)
c.1436A>C (p.His479Pro)
8g.93923333A>GCA4808801PDP1c.1274A>G (p.His425Arg)
c.1349A>G (p.His450Arg)
c.1328A>G (p.His443Arg)
c.1436A>G (p.His479Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923333A>TCA371696435PDP1c.1274A>T (p.His425Leu)
c.1349A>T (p.His450Leu)
c.1328A>T (p.His443Leu)
c.1436A>T (p.His479Leu)
8g.93923334T>ACA371696437PDP1c.1275T>A (p.His425Gln)
c.1350T>A (p.His450Gln)
c.1329T>A (p.His443Gln)
c.1437T>A (p.His479Gln)
8g.93923334T>CCA181376124PDP1c.1275T>C (p.His425=)
c.1350T>C (p.His450=)
c.1329T>C (p.His443=)
c.1437T>C (p.His479=)
 dbSNP gnomAD v3 gnomAD v4
8g.93923334T>GCA371696439PDP1c.1275T>G (p.His425Gln)
c.1350T>G (p.His450Gln)
c.1329T>G (p.His443Gln)
c.1437T>G (p.His479Gln)
8g.93923334T=CA1803280909PDP1c.1275T= (p.His425=)
c.1350T= (p.His450=)
c.1329T= (p.His443=)
c.1437T= (p.His479=)
8g.93923335A>CCA462118155PDP1c.1276A>C (p.Arg426=)
c.1351A>C (p.Arg451=)
c.1330A>C (p.Arg444=)
c.1438A>C (p.Arg480=)
8g.93923335A>GCA371696441PDP1c.1276A>G (p.Arg426Gly)
c.1351A>G (p.Arg451Gly)
c.1330A>G (p.Arg444Gly)
c.1438A>G (p.Arg480Gly)
 gnomAD v4
8g.93923335A>TCA371696443PDP1c.1276A>T (p.Arg426Trp)
c.1351A>T (p.Arg451Trp)
c.1330A>T (p.Arg444Trp)
c.1438A>T (p.Arg480Trp)
 gnomAD v4
8g.93923336G>ACA371696446PDP1c.1277G>A (p.Arg426Lys)
c.1352G>A (p.Arg451Lys)
c.1331G>A (p.Arg444Lys)
c.1439G>A (p.Arg480Lys)
8g.93923336G>CCA371696444PDP1c.1277G>C (p.Arg426Thr)
c.1352G>C (p.Arg451Thr)
c.1331G>C (p.Arg444Thr)
c.1439G>C (p.Arg480Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923336G=CA1803280910PDP1c.1277G= (p.Arg426=)
c.1352G= (p.Arg451=)
c.1331G= (p.Arg444=)
c.1439G= (p.Arg480=)
8g.93923336G>TCA371696445PDP1c.1277G>T (p.Arg426Met)
c.1352G>T (p.Arg451Met)
c.1331G>T (p.Arg444Met)
c.1439G>T (p.Arg480Met)
 gnomAD v4
8g.93923337G>ACA462118156PDP1c.1278G>A (p.Arg426=)
c.1353G>A (p.Arg451=)
c.1332G>A (p.Arg444=)
c.1440G>A (p.Arg480=)
8g.93923337G>CCA371696447PDP1c.1278G>C (p.Arg426Ser)
c.1353G>C (p.Arg451Ser)
c.1332G>C (p.Arg444Ser)
c.1440G>C (p.Arg480Ser)
8g.93923337G>TCA371696448PDP1c.1278G>T (p.Arg426Ser)
c.1353G>T (p.Arg451Ser)
c.1332G>T (p.Arg444Ser)
c.1440G>T (p.Arg480Ser)
8g.93923338C>ACA371696449PDP1c.1279C>A (p.Gln427Lys)
c.1354C>A (p.Gln452Lys)
c.1333C>A (p.Gln445Lys)
c.1441C>A (p.Gln481Lys)
8g.93923338C>GCA371696451PDP1c.1279C>G (p.Gln427Glu)
c.1354C>G (p.Gln452Glu)
c.1333C>G (p.Gln445Glu)
c.1441C>G (p.Gln481Glu)
8g.93923338C>TCA371696453PDP1c.1279C>T (p.Gln427Ter)
c.1354C>T (p.Gln452Ter)
c.1333C>T (p.Gln445Ter)
c.1441C>T (p.Gln481Ter)
8g.93923339A>CCA371696455PDP1c.1280A>C (p.Gln427Pro)
c.1355A>C (p.Gln452Pro)
c.1334A>C (p.Gln445Pro)
c.1442A>C (p.Gln481Pro)
8g.93923339A>GCA371696456PDP1c.1280A>G (p.Gln427Arg)
c.1355A>G (p.Gln452Arg)
c.1334A>G (p.Gln445Arg)
c.1442A>G (p.Gln481Arg)
 gnomAD v4
8g.93923339A>TCA371696458PDP1c.1280A>T (p.Gln427Leu)
c.1355A>T (p.Gln452Leu)
c.1334A>T (p.Gln445Leu)
c.1442A>T (p.Gln481Leu)
8g.93923340G>ACA4808803PDP1c.1281G>A (p.Gln427=)
c.1356G>A (p.Gln452=)
c.1335G>A (p.Gln445=)
c.1443G>A (p.Gln481=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923340G>CCA4808802PDP1c.1281G>C (p.Gln427His)
c.1356G>C (p.Gln452His)
c.1335G>C (p.Gln445His)
c.1443G>C (p.Gln481His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923340G=CA1803280911PDP1c.1281G= (p.Gln427=)
c.1356G= (p.Gln452=)
c.1335G= (p.Gln445=)
c.1443G= (p.Gln481=)
8g.93923340G>TCA371696462PDP1c.1281G>T (p.Gln427His)
c.1356G>T (p.Gln452His)
c.1335G>T (p.Gln445His)
c.1443G>T (p.Gln481His)
8g.93923341G>ACA371696463PDP1c.1282G>A (p.Asp428Asn)
c.1357G>A (p.Asp453Asn)
c.1336G>A (p.Asp446Asn)
c.1444G>A (p.Asp482Asn)
8g.93923341G>CCA371696466PDP1c.1282G>C (p.Asp428His)
c.1357G>C (p.Asp453His)
c.1336G>C (p.Asp446His)
c.1444G>C (p.Asp482His)
8g.93923341G=CA1803280912PDP1c.1282G= (p.Asp428=)
c.1357G= (p.Asp453=)
c.1336G= (p.Asp446=)
c.1444G= (p.Asp482=)
8g.93923341G>TCA371696464PDP1c.1282G>T (p.Asp428Tyr)
c.1357G>T (p.Asp453Tyr)
c.1336G>T (p.Asp446Tyr)
c.1444G>T (p.Asp482Tyr)
 dbSNP gnomAD v2
8g.93923342A=CA1803280913PDP1c.1283A= (p.Asp428=)
c.1358A= (p.Asp453=)
c.1337A= (p.Asp446=)
c.1445A= (p.Asp482=)
8g.93923342A>CCA371696467PDP1c.1283A>C (p.Asp428Ala)
c.1358A>C (p.Asp453Ala)
c.1337A>C (p.Asp446Ala)
c.1445A>C (p.Asp482Ala)
8g.93923342A>GCA371696471PDP1c.1283A>G (p.Asp428Gly)
c.1358A>G (p.Asp453Gly)
c.1337A>G (p.Asp446Gly)
c.1445A>G (p.Asp482Gly)
 ClinVar dbSNP
8g.93923342A>TCA371696469PDP1c.1283A>T (p.Asp428Val)
c.1358A>T (p.Asp453Val)
c.1337A>T (p.Asp446Val)
c.1445A>T (p.Asp482Val)
 gnomAD v4
8g.93923343T>ACA371696472PDP1c.1284T>A (p.Asp428Glu)
c.1359T>A (p.Asp453Glu)
c.1338T>A (p.Asp446Glu)
c.1446T>A (p.Asp482Glu)
 ClinVar dbSNP
8g.93923343T>CCA4808804PDP1c.1284T>C (p.Asp428=)
c.1359T>C (p.Asp453=)
c.1338T>C (p.Asp446=)
c.1446T>C (p.Asp482=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923343T>GCA371696473PDP1c.1284T>G (p.Asp428Glu)
c.1359T>G (p.Asp453Glu)
c.1338T>G (p.Asp446Glu)
c.1446T>G (p.Asp482Glu)
8g.93923343T=CA1803280914PDP1c.1284T= (p.Asp428=)
c.1359T= (p.Asp453=)
c.1338T= (p.Asp446=)
c.1446T= (p.Asp482=)
8g.93923344G>ACA371696475PDP1c.1285G>A (p.Val429Met)
c.1360G>A (p.Val454Met)
c.1339G>A (p.Val447Met)
c.1447G>A (p.Val483Met)
 gnomAD v4
8g.93923344G>CCA371696476PDP1c.1285G>C (p.Val429Leu)
c.1360G>C (p.Val454Leu)
c.1339G>C (p.Val447Leu)
c.1447G>C (p.Val483Leu)
8g.93923344G=CA1803280915PDP1c.1285G= (p.Val429=)
c.1360G= (p.Val454=)
c.1339G= (p.Val447=)
c.1447G= (p.Val483=)
8g.93923344G>TCA371696478PDP1c.1285G>T (p.Val429Leu)
c.1360G>T (p.Val454Leu)
c.1339G>T (p.Val447Leu)
c.1447G>T (p.Val483Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.93923345T>ACA371696480PDP1c.1286T>A (p.Val429Glu)
c.1361T>A (p.Val454Glu)
c.1340T>A (p.Val447Glu)
c.1448T>A (p.Val483Glu)
8g.93923345T>CCA371696481PDP1c.1286T>C (p.Val429Ala)
c.1361T>C (p.Val454Ala)
c.1340T>C (p.Val447Ala)
c.1448T>C (p.Val483Ala)
 gnomAD v4
8g.93923345T>GCA371696482PDP1c.1286T>G (p.Val429Gly)
c.1361T>G (p.Val454Gly)
c.1340T>G (p.Val447Gly)
c.1448T>G (p.Val483Gly)
8g.93923346G>ACA462118157PDP1c.1287G>A (p.Val429=)
c.1362G>A (p.Val454=)
c.1341G>A (p.Val447=)
c.1449G>A (p.Val483=)
8g.93923346G>CCA462118158PDP1c.1287G>C (p.Val429=)
c.1362G>C (p.Val454=)
c.1341G>C (p.Val447=)
c.1449G>C (p.Val483=)
8g.93923346G>TCA462118159PDP1c.1287G>T (p.Val429=)
c.1362G>T (p.Val454=)
c.1341G>T (p.Val447=)
c.1449G>T (p.Val483=)
8g.93923347G>ACA371696484PDP1c.1288G>A (p.Val430Ile)
c.1363G>A (p.Val455Ile)
c.1342G>A (p.Val448Ile)
c.1450G>A (p.Val484Ile)
8g.93923347G>CCA371696485PDP1c.1288G>C (p.Val430Leu)
c.1363G>C (p.Val455Leu)
c.1342G>C (p.Val448Leu)
c.1450G>C (p.Val484Leu)
8g.93923347G>TCA371696487PDP1c.1288G>T (p.Val430Phe)
c.1363G>T (p.Val455Phe)
c.1342G>T (p.Val448Phe)
c.1450G>T (p.Val484Phe)
8g.93923348T>ACA371696492PDP1c.1289T>A (p.Val430Asp)
c.1364T>A (p.Val455Asp)
c.1343T>A (p.Val448Asp)
c.1451T>A (p.Val484Asp)
8g.93923348T>CCA371696489PDP1c.1289T>C (p.Val430Ala)
c.1364T>C (p.Val455Ala)
c.1343T>C (p.Val448Ala)
c.1451T>C (p.Val484Ala)
8g.93923348T>GCA371696490PDP1c.1289T>G (p.Val430Gly)
c.1364T>G (p.Val455Gly)
c.1343T>G (p.Val448Gly)
c.1451T>G (p.Val484Gly)
8g.93923349T>ACA462118160PDP1c.1290T>A (p.Val430=)
c.1365T>A (p.Val455=)
c.1344T>A (p.Val448=)
c.1452T>A (p.Val484=)
8g.93923349T>CCA462118161PDP1c.1290T>C (p.Val430=)
c.1365T>C (p.Val455=)
c.1344T>C (p.Val448=)
c.1452T>C (p.Val484=)
8g.93923349T>GCA462118162PDP1c.1290T>G (p.Val430=)
c.1365T>G (p.Val455=)
c.1344T>G (p.Val448=)
c.1452T>G (p.Val484=)
8g.93923350A>CCA462118163PDP1c.1291A>C (p.Arg431=)
c.1366A>C (p.Arg456=)
c.1345A>C (p.Arg449=)
c.1453A>C (p.Arg485=)
8g.93923350A>GCA371696494PDP1c.1291A>G (p.Arg431Gly)
c.1366A>G (p.Arg456Gly)
c.1345A>G (p.Arg449Gly)
c.1453A>G (p.Arg485Gly)
8g.93923350A>TCA371696496PDP1c.1291A>T (p.Arg431Trp)
c.1366A>T (p.Arg456Trp)
c.1345A>T (p.Arg449Trp)
c.1453A>T (p.Arg485Trp)
8g.93923351G>ACA371696498PDP1c.1292G>A (p.Arg431Lys)
c.1367G>A (p.Arg456Lys)
c.1346G>A (p.Arg449Lys)
c.1454G>A (p.Arg485Lys)
8g.93923351G>CCA371696499PDP1c.1292G>C (p.Arg431Thr)
c.1367G>C (p.Arg456Thr)
c.1346G>C (p.Arg449Thr)
c.1454G>C (p.Arg485Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.93923351G=CA1803280916PDP1c.1292G= (p.Arg431=)
c.1367G= (p.Arg456=)
c.1346G= (p.Arg449=)
c.1454G= (p.Arg485=)
8g.93923351G>TCA371696501PDP1c.1292G>T (p.Arg431Met)
c.1367G>T (p.Arg456Met)
c.1346G>T (p.Arg449Met)
c.1454G>T (p.Arg485Met)
8g.93923352G>ACA462118164PDP1c.1293G>A (p.Arg431=)
c.1368G>A (p.Arg456=)
c.1347G>A (p.Arg449=)
c.1455G>A (p.Arg485=)
 gnomAD v4
8g.93923352G>CCA371696504PDP1c.1293G>C (p.Arg431Ser)
c.1368G>C (p.Arg456Ser)
c.1347G>C (p.Arg449Ser)
c.1455G>C (p.Arg485Ser)
8g.93923352G>TCA371696506PDP1c.1293G>T (p.Arg431Ser)
c.1368G>T (p.Arg456Ser)
c.1347G>T (p.Arg449Ser)
c.1455G>T (p.Arg485Ser)
8g.93923353A>CCA371696507PDP1c.1294A>C (p.Ile432Leu)
c.1369A>C (p.Ile457Leu)
c.1348A>C (p.Ile450Leu)
c.1456A>C (p.Ile486Leu)
8g.93923353A>GCA371696509PDP1c.1294A>G (p.Ile432Val)
c.1369A>G (p.Ile457Val)
c.1348A>G (p.Ile450Val)
c.1456A>G (p.Ile486Val)
8g.93923353A>TCA371696511PDP1c.1294A>T (p.Ile432Phe)
c.1369A>T (p.Ile457Phe)
c.1348A>T (p.Ile450Phe)
c.1456A>T (p.Ile486Phe)
8g.93923354T>ACA371696520PDP1c.1295T>A (p.Ile432Asn)
c.1370T>A (p.Ile457Asn)
c.1349T>A (p.Ile450Asn)
c.1457T>A (p.Ile486Asn)
8g.93923354T>CCA371696518PDP1c.1295T>C (p.Ile432Thr)
c.1370T>C (p.Ile457Thr)
c.1349T>C (p.Ile450Thr)
c.1457T>C (p.Ile486Thr)
 gnomAD v4
8g.93923354T>GCA371696513PDP1c.1295T>G (p.Ile432Ser)
c.1370T>G (p.Ile457Ser)
c.1349T>G (p.Ile450Ser)
c.1457T>G (p.Ile486Ser)
8g.93923355T>ACA462118165PDP1c.1296T>A (p.Ile432=)
c.1371T>A (p.Ile457=)
c.1350T>A (p.Ile450=)
c.1458T>A (p.Ile486=)
8g.93923355T>CCA462118166PDP1c.1296T>C (p.Ile432=)
c.1371T>C (p.Ile457=)
c.1350T>C (p.Ile450=)
c.1458T>C (p.Ile486=)
8g.93923355T>GCA371696522PDP1c.1296T>G (p.Ile432Met)
c.1371T>G (p.Ile457Met)
c.1350T>G (p.Ile450Met)
c.1458T>G (p.Ile486Met)
8g.93923356G>ACA371696524PDP1c.1297G>A (p.Val433Met)
c.1372G>A (p.Val458Met)
c.1351G>A (p.Val451Met)
c.1459G>A (p.Val487Met)
8g.93923356G>CCA371696526PDP1c.1297G>C (p.Val433Leu)
c.1372G>C (p.Val458Leu)
c.1351G>C (p.Val451Leu)
c.1459G>C (p.Val487Leu)
8g.93923356G>TCA371696528PDP1c.1297G>T (p.Val433Leu)
c.1372G>T (p.Val458Leu)
c.1351G>T (p.Val451Leu)
c.1459G>T (p.Val487Leu)
8g.93923357T>ACA371696530PDP1c.1298T>A (p.Val433Glu)
c.1373T>A (p.Val458Glu)
c.1352T>A (p.Val451Glu)
c.1460T>A (p.Val487Glu)
8g.93923357T>CCA371696532PDP1c.1298T>C (p.Val433Ala)
c.1373T>C (p.Val458Ala)
c.1352T>C (p.Val451Ala)
c.1460T>C (p.Val487Ala)
 gnomAD v4
8g.93923357T>GCA371696533PDP1c.1298T>G (p.Val433Gly)
c.1373T>G (p.Val458Gly)
c.1352T>G (p.Val451Gly)
c.1460T>G (p.Val487Gly)
8g.93923358G>ACA462118167PDP1c.1299G>A (p.Val433=)
c.1374G>A (p.Val458=)
c.1353G>A (p.Val451=)
c.1461G>A (p.Val487=)
8g.93923358G>CCA462118168PDP1c.1299G>C (p.Val433=)
c.1374G>C (p.Val458=)
c.1353G>C (p.Val451=)
c.1461G>C (p.Val487=)
8g.93923358G>TCA462118169PDP1c.1299G>T (p.Val433=)
c.1374G>T (p.Val458=)
c.1353G>T (p.Val451=)
c.1461G>T (p.Val487=)
8g.93923359G>ACA371696534PDP1c.1300G>A (p.Gly434Ser)
c.1375G>A (p.Gly459Ser)
c.1354G>A (p.Gly452Ser)
c.1462G>A (p.Gly488Ser)
8g.93923359G>CCA371696535PDP1c.1300G>C (p.Gly434Arg)
c.1375G>C (p.Gly459Arg)
c.1354G>C (p.Gly452Arg)
c.1462G>C (p.Gly488Arg)
8g.93923359G=CA1803280917PDP1c.1300G= (p.Gly434=)
c.1375G= (p.Gly459=)
c.1354G= (p.Gly452=)
c.1462G= (p.Gly488=)
8g.93923359G>TCA371696536PDP1c.1300G>T (p.Gly434Cys)
c.1375G>T (p.Gly459Cys)
c.1354G>T (p.Gly452Cys)
c.1462G>T (p.Gly488Cys)
 dbSNP gnomAD v4
8g.93923360G>ACA371696538PDP1c.1301G>A (p.Gly434Asp)
c.1376G>A (p.Gly459Asp)
c.1355G>A (p.Gly452Asp)
c.1463G>A (p.Gly488Asp)
8g.93923360G>CCA371696540PDP1c.1301G>C (p.Gly434Ala)
c.1376G>C (p.Gly459Ala)
c.1355G>C (p.Gly452Ala)
c.1463G>C (p.Gly488Ala)
8g.93923360G>TCA371696541PDP1c.1301G>T (p.Gly434Val)
c.1376G>T (p.Gly459Val)
c.1355G>T (p.Gly452Val)
c.1463G>T (p.Gly488Val)
8g.93923361T>ACA462118170PDP1c.1302T>A (p.Gly434=)
c.1377T>A (p.Gly459=)
c.1356T>A (p.Gly452=)
c.1464T>A (p.Gly488=)
8g.93923361T>CCA462118171PDP1c.1302T>C (p.Gly434=)
c.1377T>C (p.Gly459=)
c.1356T>C (p.Gly452=)
c.1464T>C (p.Gly488=)
8g.93923361T>GCA462118172PDP1c.1302T>G (p.Gly434=)
c.1377T>G (p.Gly459=)
c.1356T>G (p.Gly452=)
c.1464T>G (p.Gly488=)
 dbSNP
8g.93923361T=CA1803280918PDP1c.1302T= (p.Gly434=)
c.1377T= (p.Gly459=)
c.1356T= (p.Gly452=)
c.1464T= (p.Gly488=)
8g.93923362G>ACA371696544PDP1c.1303G>A (p.Glu435Lys)
c.1378G>A (p.Glu460Lys)
c.1357G>A (p.Glu453Lys)
c.1465G>A (p.Glu489Lys)
 gnomAD v4
8g.93923362G>CCA371696548PDP1c.1303G>C (p.Glu435Gln)
c.1378G>C (p.Glu460Gln)
c.1357G>C (p.Glu453Gln)
c.1465G>C (p.Glu489Gln)
8g.93923362G>TCA371696546PDP1c.1303G>T (p.Glu435Ter)
c.1378G>T (p.Glu460Ter)
c.1357G>T (p.Glu453Ter)
c.1465G>T (p.Glu489Ter)
8g.93923363A=CA1803280919PDP1c.1304A= (p.Glu435=)
c.1379A= (p.Glu460=)
c.1358A= (p.Glu453=)
c.1466A= (p.Glu489=)
8g.93923363A>CCA371696551PDP1c.1304A>C (p.Glu435Ala)
c.1379A>C (p.Glu460Ala)
c.1358A>C (p.Glu453Ala)
c.1466A>C (p.Glu489Ala)
8g.93923363A>GCA4808805PDP1c.1304A>G (p.Glu435Gly)
c.1379A>G (p.Glu460Gly)
c.1358A>G (p.Glu453Gly)
c.1466A>G (p.Glu489Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.93923363A>TCA371696554PDP1c.1304A>T (p.Glu435Val)
c.1379A>T (p.Glu460Val)
c.1358A>T (p.Glu453Val)
c.1466A>T (p.Glu489Val)
8g.93923364G>ACA462118173PDP1c.1305G>A (p.Glu435=)
c.1380G>A (p.Glu460=)
c.1359G>A (p.Glu453=)
c.1467G>A (p.Glu489=)
8g.93923364G>CCA371696556PDP1c.1305G>C (p.Glu435Asp)
c.1380G>C (p.Glu460Asp)
c.1359G>C (p.Glu453Asp)
c.1467G>C (p.Glu489Asp)
8g.93923364G=CA1803280920PDP1c.1305G= (p.Glu435=)
c.1380G= (p.Glu460=)
c.1359G= (p.Glu453=)
c.1467G= (p.Glu489=)
8g.93923364G>TCA371696558PDP1c.1305G>T (p.Glu435Asp)
c.1380G>T (p.Glu460Asp)
c.1359G>T (p.Glu453Asp)
c.1467G>T (p.Glu489Asp)
8g.93923365T>ACA371696560PDP1c.1306T>A (p.Tyr436Asn)
c.1381T>A (p.Tyr461Asn)
c.1360T>A (p.Tyr454Asn)
c.1468T>A (p.Tyr490Asn)
8g.93923365T>CCA371696561PDP1c.1306T>C (p.Tyr436His)
c.1381T>C (p.Tyr461His)
c.1360T>C (p.Tyr454His)
c.1468T>C (p.Tyr490His)
8g.93923365T>GCA371696562PDP1c.1306T>G (p.Tyr436Asp)
c.1381T>G (p.Tyr461Asp)
c.1360T>G (p.Tyr454Asp)
c.1468T>G (p.Tyr490Asp)
8g.93923365dupCA583844357PDP1c.1306dup (p.Tyr436LeufsTer?)
c.1381dup (p.Tyr461LeufsTer?)
c.1360dup (p.Tyr454LeufsTer?)
c.1468dup (p.Tyr490LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.93923367_93923370delCA2579206332PDP1c.1308_1311del (p.Tyr436Ter)
c.1383_1386del (p.Tyr461Ter)
c.1362_1365del (p.Tyr454Ter)
c.1470_1473del (p.Tyr490Ter)
8g.93923366A=CA1803280921PDP1c.1307A= (p.Tyr436=)
c.1382A= (p.Tyr461=)
c.1361A= (p.Tyr454=)
c.1469A= (p.Tyr490=)
8g.93923366A>CCA371696565PDP1c.1307A>C (p.Tyr436Ser)
c.1382A>C (p.Tyr461Ser)
c.1361A>C (p.Tyr454Ser)
c.1469A>C (p.Tyr490Ser)
 dbSNP
8g.93923366A>GCA371696567PDP1c.1307A>G (p.Tyr436Cys)
c.1382A>G (p.Tyr461Cys)
c.1361A>G (p.Tyr454Cys)
c.1469A>G (p.Tyr490Cys)
8g.93923366A>TCA371696569PDP1c.1307A>T (p.Tyr436Phe)
c.1382A>T (p.Tyr461Phe)
c.1361A>T (p.Tyr454Phe)
c.1469A>T (p.Tyr490Phe)
8g.93923367C>ACA371696571PDP1c.1308C>A (p.Tyr436Ter)
c.1383C>A (p.Tyr461Ter)
c.1362C>A (p.Tyr454Ter)
c.1470C>A (p.Tyr490Ter)
8g.93923367C>GCA371696573PDP1c.1308C>G (p.Tyr436Ter)
c.1383C>G (p.Tyr461Ter)
c.1362C>G (p.Tyr454Ter)
c.1470C>G (p.Tyr490Ter)
8g.93923367C>TCA462118174PDP1c.1308C>T (p.Tyr436=)
c.1383C>T (p.Tyr461=)
c.1362C>T (p.Tyr454=)
c.1470C>T (p.Tyr490=)
8g.93923368C>ACA371696575PDP1c.1309C>A (p.Leu437Ile)
c.1384C>A (p.Leu462Ile)
c.1363C>A (p.Leu455Ile)
c.1471C>A (p.Leu491Ile)
8g.93923368C>GCA371696576PDP1c.1309C>G (p.Leu437Val)
c.1384C>G (p.Leu462Val)
c.1363C>G (p.Leu455Val)
c.1471C>G (p.Leu491Val)
8g.93923368C>TCA462118175PDP1c.1309C>T (p.Leu437=)
c.1384C>T (p.Leu462=)
c.1363C>T (p.Leu455=)
c.1471C>T (p.Leu491=)
 gnomAD v4
8g.93923369T>ACA371696578PDP1c.1310T>A (p.Leu437Gln)
c.1385T>A (p.Leu462Gln)
c.1364T>A (p.Leu455Gln)
c.1472T>A (p.Leu491Gln)
8g.93923369T>CCA371696580PDP1c.1310T>C (p.Leu437Pro)
c.1385T>C (p.Leu462Pro)
c.1364T>C (p.Leu455Pro)
c.1472T>C (p.Leu491Pro)
8g.93923369T>GCA371696582PDP1c.1310T>G (p.Leu437Arg)
c.1385T>G (p.Leu462Arg)
c.1364T>G (p.Leu455Arg)
c.1472T>G (p.Leu491Arg)
8g.93923370A=CA1803280922PDP1c.1311A= (p.Leu437=)
c.1386A= (p.Leu462=)
c.1365A= (p.Leu455=)
c.1473A= (p.Leu491=)
8g.93923370A>CCA462118176PDP1c.1311A>C (p.Leu437=)
c.1386A>C (p.Leu462=)
c.1365A>C (p.Leu455=)
c.1473A>C (p.Leu491=)
8g.93923370A>GCA462118177PDP1c.1311A>G (p.Leu437=)
c.1386A>G (p.Leu462=)
c.1365A>G (p.Leu455=)
c.1473A>G (p.Leu491=)
8g.93923370A>TCA4808806PDP1c.1311A>T (p.Leu437=)
c.1386A>T (p.Leu462=)
c.1365A>T (p.Leu455=)
c.1473A>T (p.Leu491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923371A>CCA371696585PDP1c.1312A>C (p.Thr438Pro)
c.1387A>C (p.Thr463Pro)
c.1366A>C (p.Thr456Pro)
c.1474A>C (p.Thr492Pro)
8g.93923371A>GCA371696587PDP1c.1312A>G (p.Thr438Ala)
c.1387A>G (p.Thr463Ala)
c.1366A>G (p.Thr456Ala)
c.1474A>G (p.Thr492Ala)
 gnomAD v4
8g.93923371A>TCA371696589PDP1c.1312A>T (p.Thr438Ser)
c.1387A>T (p.Thr463Ser)
c.1366A>T (p.Thr456Ser)
c.1474A>T (p.Thr492Ser)
8g.93923372C>ACA371696592PDP1c.1313C>A (p.Thr438Asn)
c.1388C>A (p.Thr463Asn)
c.1367C>A (p.Thr456Asn)
c.1475C>A (p.Thr492Asn)
 dbSNP
8g.93923372C=CA1803280923PDP1c.1313C= (p.Thr438=)
c.1388C= (p.Thr463=)
c.1367C= (p.Thr456=)
c.1475C= (p.Thr492=)
8g.93923372C>GCA371696593PDP1c.1313C>G (p.Thr438Ser)
c.1388C>G (p.Thr463Ser)
c.1367C>G (p.Thr456Ser)
c.1475C>G (p.Thr492Ser)
8g.93923372C>TCA371696594PDP1c.1313C>T (p.Thr438Ile)
c.1388C>T (p.Thr463Ile)
c.1367C>T (p.Thr456Ile)
c.1475C>T (p.Thr492Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.93923373T>ACA462118178PDP1c.1314T>A (p.Thr438=)
c.1389T>A (p.Thr463=)
c.1368T>A (p.Thr456=)
c.1476T>A (p.Thr492=)
8g.93923373T>CCA462118179PDP1c.1314T>C (p.Thr438=)
c.1389T>C (p.Thr463=)
c.1368T>C (p.Thr456=)
c.1476T>C (p.Thr492=)
8g.93923373T>GCA462118180PDP1c.1314T>G (p.Thr438=)
c.1389T>G (p.Thr463=)
c.1368T>G (p.Thr456=)
c.1476T>G (p.Thr492=)
 dbSNP
8g.93923373T=CA1803280924PDP1c.1314T= (p.Thr438=)
c.1389T= (p.Thr463=)
c.1368T= (p.Thr456=)
c.1476T= (p.Thr492=)
8g.93923374G>ACA371696599PDP1c.1315G>A (p.Gly439Ser)
c.1390G>A (p.Gly464Ser)
c.1369G>A (p.Gly457Ser)
c.1477G>A (p.Gly493Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.93923374G>CCA371696601PDP1c.1315G>C (p.Gly439Arg)
c.1390G>C (p.Gly464Arg)
c.1369G>C (p.Gly457Arg)
c.1477G>C (p.Gly493Arg)
8g.93923374G=CA1803280925PDP1c.1315G= (p.Gly439=)
c.1390G= (p.Gly464=)
c.1369G= (p.Gly457=)
c.1477G= (p.Gly493=)
8g.93923374G>TCA371696604PDP1c.1315G>T (p.Gly439Cys)
c.1390G>T (p.Gly464Cys)
c.1369G>T (p.Gly457Cys)
c.1477G>T (p.Gly493Cys)
8g.93923375G>ACA4808807PDP1c.1316G>A (p.Gly439Asp)
c.1391G>A (p.Gly464Asp)
c.1370G>A (p.Gly457Asp)
c.1478G>A (p.Gly493Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923375G>CCA371696606PDP1c.1316G>C (p.Gly439Ala)
c.1391G>C (p.Gly464Ala)
c.1370G>C (p.Gly457Ala)
c.1478G>C (p.Gly493Ala)
8g.93923375G=CA1803280926PDP1c.1316G= (p.Gly439=)
c.1391G= (p.Gly464=)
c.1370G= (p.Gly457=)
c.1478G= (p.Gly493=)
8g.93923375G>TCA371696608PDP1c.1316G>T (p.Gly439Val)
c.1391G>T (p.Gly464Val)
c.1370G>T (p.Gly457Val)
c.1478G>T (p.Gly493Val)
 dbSNP gnomAD v4
8g.93923376C>ACA462118181PDP1c.1317C>A (p.Gly439=)
c.1392C>A (p.Gly464=)
c.1371C>A (p.Gly457=)
c.1479C>A (p.Gly493=)
8g.93923376C>GCA462118182PDP1c.1317C>G (p.Gly439=)
c.1392C>G (p.Gly464=)
c.1371C>G (p.Gly457=)
c.1479C>G (p.Gly493=)
8g.93923376C>TCA462118183PDP1c.1317C>T (p.Gly439=)
c.1392C>T (p.Gly464=)
c.1371C>T (p.Gly457=)
c.1479C>T (p.Gly493=)
8g.93923377A=CA1803280927PDP1c.1318A= (p.Met440=)
c.1393A= (p.Met465=)
c.1372A= (p.Met458=)
c.1480A= (p.Met494=)
8g.93923377A>CCA371696611PDP1c.1318A>C (p.Met440Leu)
c.1393A>C (p.Met465Leu)
c.1372A>C (p.Met458Leu)
c.1480A>C (p.Met494Leu)
8g.93923377A>GCA4808808PDP1c.1318A>G (p.Met440Val)
c.1393A>G (p.Met465Val)
c.1372A>G (p.Met458Val)
c.1480A>G (p.Met494Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923377A>TCA371696614PDP1c.1318A>T (p.Met440Leu)
c.1393A>T (p.Met465Leu)
c.1372A>T (p.Met458Leu)
c.1480A>T (p.Met494Leu)
8g.93923378T>ACA371696616PDP1c.1319T>A (p.Met440Lys)
c.1394T>A (p.Met465Lys)
c.1373T>A (p.Met458Lys)
c.1481T>A (p.Met494Lys)
8g.93923378T>CCA371696618PDP1c.1319T>C (p.Met440Thr)
c.1394T>C (p.Met465Thr)
c.1373T>C (p.Met458Thr)
c.1481T>C (p.Met494Thr)
8g.93923378T>GCA371696619PDP1c.1319T>G (p.Met440Arg)
c.1394T>G (p.Met465Arg)
c.1373T>G (p.Met458Arg)
c.1481T>G (p.Met494Arg)
8g.93923379delCA2687927872PDP1c.1320del (p.Met440IlefsTer7)
c.1395del (p.Met465IlefsTer7)
c.1374del (p.Met458IlefsTer7)
c.1482del (p.Met494IlefsTer7)
 gnomAD v4
8g.93923379G>ACA371696622PDP1c.1320G>A (p.Met440Ile)
c.1395G>A (p.Met465Ile)
c.1374G>A (p.Met458Ile)
c.1482G>A (p.Met494Ile)
 gnomAD v4
8g.93923379G>CCA371696624PDP1c.1320G>C (p.Met440Ile)
c.1395G>C (p.Met465Ile)
c.1374G>C (p.Met458Ile)
c.1482G>C (p.Met494Ile)
8g.93923379G>TCA371696626PDP1c.1320G>T (p.Met440Ile)
c.1395G>T (p.Met465Ile)
c.1374G>T (p.Met458Ile)
c.1482G>T (p.Met494Ile)
8g.93923380C>ACA371696628PDP1c.1321C>A (p.His441Asn)
c.1396C>A (p.His466Asn)
c.1375C>A (p.His459Asn)
c.1483C>A (p.His495Asn)
 ClinVar gnomAD v4
8g.93923380C>GCA371696630PDP1c.1321C>G (p.His441Asp)
c.1396C>G (p.His466Asp)
c.1375C>G (p.His459Asp)
c.1483C>G (p.His495Asp)
8g.93923380C>TCA371696632PDP1c.1321C>T (p.His441Tyr)
c.1396C>T (p.His466Tyr)
c.1375C>T (p.His459Tyr)
c.1483C>T (p.His495Tyr)
8g.93923381A=CA1803280928PDP1c.1322A= (p.His441=)
c.1397A= (p.His466=)
c.1376A= (p.His459=)
c.1484A= (p.His495=)
8g.93923381A>CCA371696633PDP1c.1322A>C (p.His441Pro)
c.1397A>C (p.His466Pro)
c.1376A>C (p.His459Pro)
c.1484A>C (p.His495Pro)
8g.93923381A>GCA4808809PDP1c.1322A>G (p.His441Arg)
c.1397A>G (p.His466Arg)
c.1376A>G (p.His459Arg)
c.1484A>G (p.His495Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923381A>TCA371696634PDP1c.1322A>T (p.His441Leu)
c.1397A>T (p.His466Leu)
c.1376A>T (p.His459Leu)
c.1484A>T (p.His495Leu)
8g.93923381_93923382delCA2579206333PDP1c.1322_1323del (p.His441ProfsTer?)
c.1397_1398del (p.His466ProfsTer?)
c.1376_1377del (p.His459ProfsTer?)
c.1484_1485del (p.His495ProfsTer?)
8g.93923382T>ACA371696637PDP1c.1323T>A (p.His441Gln)
c.1398T>A (p.His466Gln)
c.1377T>A (p.His459Gln)
c.1485T>A (p.His495Gln)
8g.93923382T>CCA462118184PDP1c.1323T>C (p.His441=)
c.1398T>C (p.His466=)
c.1377T>C (p.His459=)
c.1485T>C (p.His495=)
8g.93923382T>GCA371696639PDP1c.1323T>G (p.His441Gln)
c.1398T>G (p.His466Gln)
c.1377T>G (p.His459Gln)
c.1485T>G (p.His495Gln)
8g.93923383C>ACA371696641PDP1c.1324C>A (p.His442Asn)
c.1399C>A (p.His467Asn)
c.1378C>A (p.His460Asn)
c.1486C>A (p.His496Asn)
8g.93923383C=CA1803280929PDP1c.1324C= (p.His442=)
c.1399C= (p.His467=)
c.1378C= (p.His460=)
c.1486C= (p.His496=)
8g.93923383C>GCA371696643PDP1c.1324C>G (p.His442Asp)
c.1399C>G (p.His467Asp)
c.1378C>G (p.His460Asp)
c.1486C>G (p.His496Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.93923383C>TCA371696645PDP1c.1324C>T (p.His442Tyr)
c.1399C>T (p.His467Tyr)
c.1378C>T (p.His460Tyr)
c.1486C>T (p.His496Tyr)
 dbSNP gnomAD v4
8g.93923384A=CA1803280930PDP1c.1325A= (p.His442=)
c.1400A= (p.His467=)
c.1379A= (p.His460=)
c.1487A= (p.His496=)
8g.93923384A>CCA371696648PDP1c.1325A>C (p.His442Pro)
c.1400A>C (p.His467Pro)
c.1379A>C (p.His460Pro)
c.1487A>C (p.His496Pro)
 dbSNP
8g.93923384A>GCA371696650PDP1c.1325A>G (p.His442Arg)
c.1400A>G (p.His467Arg)
c.1379A>G (p.His460Arg)
c.1487A>G (p.His496Arg)
8g.93923384A>TCA371696651PDP1c.1325A>T (p.His442Leu)
c.1400A>T (p.His467Leu)
c.1379A>T (p.His460Leu)
c.1487A>T (p.His496Leu)
 dbSNP gnomAD v4
8g.93923385C>ACA371696653PDP1c.1326C>A (p.His442Gln)
c.1401C>A (p.His467Gln)
c.1380C>A (p.His460Gln)
c.1488C>A (p.His496Gln)
 gnomAD v4
8g.93923385C>GCA371696654PDP1c.1326C>G (p.His442Gln)
c.1401C>G (p.His467Gln)
c.1380C>G (p.His460Gln)
c.1488C>G (p.His496Gln)
8g.93923385C>TCA462118185PDP1c.1326C>T (p.His442=)
c.1401C>T (p.His467=)
c.1380C>T (p.His460=)
c.1488C>T (p.His496=)
 gnomAD v4
8g.93923386C>ACA371696657PDP1c.1327C>A (p.Gln443Lys)
c.1402C>A (p.Gln468Lys)
c.1381C>A (p.Gln461Lys)
c.1489C>A (p.Gln497Lys)
8g.93923386C>GCA371696658PDP1c.1327C>G (p.Gln443Glu)
c.1402C>G (p.Gln468Glu)
c.1381C>G (p.Gln461Glu)
c.1489C>G (p.Gln497Glu)
8g.93923386C>TCA371696660PDP1c.1327C>T (p.Gln443Ter)
c.1402C>T (p.Gln468Ter)
c.1381C>T (p.Gln461Ter)
c.1489C>T (p.Gln497Ter)
8g.93923388_93923390delCA645553496PDP1c.1329_1331del (p.Gln444del)
c.1404_1406del (p.Gln469del)
c.1383_1385del (p.Gln462del)
c.1491_1493del (p.Gln498del)
 COSMIC COSMIC
8g.93923387A>CCA371696661PDP1c.1328A>C (p.Gln443Pro)
c.1403A>C (p.Gln468Pro)
c.1382A>C (p.Gln461Pro)
c.1490A>C (p.Gln497Pro)
8g.93923387A>GCA371696664PDP1c.1328A>G (p.Gln443Arg)
c.1403A>G (p.Gln468Arg)
c.1382A>G (p.Gln461Arg)
c.1490A>G (p.Gln497Arg)
8g.93923387A>TCA371696662PDP1c.1328A>T (p.Gln443Leu)
c.1403A>T (p.Gln468Leu)
c.1382A>T (p.Gln461Leu)
c.1490A>T (p.Gln497Leu)
8g.93923388A=CA1803280931PDP1c.1329A= (p.Gln443=)
c.1404A= (p.Gln468=)
c.1383A= (p.Gln461=)
c.1491A= (p.Gln497=)
8g.93923388A>CCA4808810PDP1c.1329A>C (p.Gln443His)
c.1404A>C (p.Gln468His)
c.1383A>C (p.Gln461His)
c.1491A>C (p.Gln497His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923388A>GCA462118186PDP1c.1329A>G (p.Gln443=)
c.1404A>G (p.Gln468=)
c.1383A>G (p.Gln461=)
c.1491A>G (p.Gln497=)
 dbSNP
8g.93923388A>TCA371696672PDP1c.1329A>T (p.Gln443His)
c.1404A>T (p.Gln468His)
c.1383A>T (p.Gln461His)
c.1491A>T (p.Gln497His)
8g.93923389C>ACA371696674PDP1c.1330C>A (p.Gln444Lys)
c.1405C>A (p.Gln469Lys)
c.1384C>A (p.Gln462Lys)
c.1492C>A (p.Gln498Lys)
8g.93923389C>GCA371696675PDP1c.1330C>G (p.Gln444Glu)
c.1405C>G (p.Gln469Glu)
c.1384C>G (p.Gln462Glu)
c.1492C>G (p.Gln498Glu)
8g.93923389C>TCA371696677PDP1c.1330C>T (p.Gln444Ter)
c.1405C>T (p.Gln469Ter)
c.1384C>T (p.Gln462Ter)
c.1492C>T (p.Gln498Ter)
8g.93923390A>CCA371696679PDP1c.1331A>C (p.Gln444Pro)
c.1406A>C (p.Gln469Pro)
c.1385A>C (p.Gln462Pro)
c.1493A>C (p.Gln498Pro)
8g.93923390A>GCA371696681PDP1c.1331A>G (p.Gln444Arg)
c.1406A>G (p.Gln469Arg)
c.1385A>G (p.Gln462Arg)
c.1493A>G (p.Gln498Arg)
8g.93923390A>TCA371696682PDP1c.1331A>T (p.Gln444Leu)
c.1406A>T (p.Gln469Leu)
c.1385A>T (p.Gln462Leu)
c.1493A>T (p.Gln498Leu)
8g.93923391G>ACA462118187PDP1c.1332G>A (p.Gln444=)
c.1407G>A (p.Gln469=)
c.1386G>A (p.Gln462=)
c.1494G>A (p.Gln498=)
 dbSNP COSMIC COSMIC
8g.93923391G>CCA371696684PDP1c.1332G>C (p.Gln444His)
c.1407G>C (p.Gln469His)
c.1386G>C (p.Gln462His)
c.1494G>C (p.Gln498His)
8g.93923391G=CA1803280932PDP1c.1332G= (p.Gln444=)
c.1407G= (p.Gln469=)
c.1386G= (p.Gln462=)
c.1494G= (p.Gln498=)
8g.93923391G>TCA371696685PDP1c.1332G>T (p.Gln444His)
c.1407G>T (p.Gln469His)
c.1386G>T (p.Gln462His)
c.1494G>T (p.Gln498His)
8g.93923392C>ACA371696689PDP1c.1333C>A (p.Pro445Thr)
c.1408C>A (p.Pro470Thr)
c.1387C>A (p.Pro463Thr)
c.1495C>A (p.Pro499Thr)
8g.93923392C>GCA371696691PDP1c.1333C>G (p.Pro445Ala)
c.1408C>G (p.Pro470Ala)
c.1387C>G (p.Pro463Ala)
c.1495C>G (p.Pro499Ala)
8g.93923392C>TCA371696687PDP1c.1333C>T (p.Pro445Ser)
c.1408C>T (p.Pro470Ser)
c.1387C>T (p.Pro463Ser)
c.1495C>T (p.Pro499Ser)
 ClinVar dbSNP gnomAD v4
8g.93923393C>ACA371696696PDP1c.1334C>A (p.Pro445Gln)
c.1409C>A (p.Pro470Gln)
c.1388C>A (p.Pro463Gln)
c.1496C>A (p.Pro499Gln)
8g.93923393C>GCA371696692PDP1c.1334C>G (p.Pro445Arg)
c.1409C>G (p.Pro470Arg)
c.1388C>G (p.Pro463Arg)
c.1496C>G (p.Pro499Arg)
 gnomAD v4
8g.93923393C>TCA371696694PDP1c.1334C>T (p.Pro445Leu)
c.1409C>T (p.Pro470Leu)
c.1388C>T (p.Pro463Leu)
c.1496C>T (p.Pro499Leu)
 gnomAD v4
8g.93923394A=CA1803280933PDP1c.1335A= (p.Pro445=)
c.1410A= (p.Pro470=)
c.1389A= (p.Pro463=)
c.1497A= (p.Pro499=)
8g.93923394A>CCA462118188PDP1c.1335A>C (p.Pro445=)
c.1410A>C (p.Pro470=)
c.1389A>C (p.Pro463=)
c.1497A>C (p.Pro499=)
8g.93923394A>GCA462118189PDP1c.1335A>G (p.Pro445=)
c.1410A>G (p.Pro470=)
c.1389A>G (p.Pro463=)
c.1497A>G (p.Pro499=)
 dbSNP gnomAD v2 gnomAD v4
8g.93923394A>TCA462118190PDP1c.1335A>T (p.Pro445=)
c.1410A>T (p.Pro470=)
c.1389A>T (p.Pro463=)
c.1497A>T (p.Pro499=)
8g.93923395_93923397delCA2687927873PDP1c.1336_1338del (p.Ile446del)
c.1411_1413del (p.Ile471del)
c.1390_1392del (p.Ile464del)
c.1498_1500del (p.Ile500del)
 gnomAD v4
8g.93923394_93923395insCACCCAAACACACCCAACACCA2781329141PDP1c.1335_1336insCACCCAAACACACCCAACAC (p.Ile446HisfsTer8)
c.1410_1411insCACCCAAACACACCCAACAC (p.Ile471HisfsTer8)
c.1389_1390insCACCCAAACACACCCAACAC (p.Ile464HisfsTer8)
c.1497_1498insCACCCAAACACACCCAACAC (p.Ile500HisfsTer8)
8g.93923395A=CA1803280934PDP1c.1336A= (p.Ile446=)
c.1411A= (p.Ile471=)
c.1390A= (p.Ile464=)
c.1498A= (p.Ile500=)
8g.93923395A>CCA371696698PDP1c.1336A>C (p.Ile446Leu)
c.1411A>C (p.Ile471Leu)
c.1390A>C (p.Ile464Leu)
c.1498A>C (p.Ile500Leu)
8g.93923395A>GCA371696700PDP1c.1336A>G (p.Ile446Val)
c.1411A>G (p.Ile471Val)
c.1390A>G (p.Ile464Val)
c.1498A>G (p.Ile500Val)
 dbSNP gnomAD v3 gnomAD v4
8g.93923395A>TCA371696701PDP1c.1336A>T (p.Ile446Leu)
c.1411A>T (p.Ile471Leu)
c.1390A>T (p.Ile464Leu)
c.1498A>T (p.Ile500Leu)
 gnomAD v4
8g.93923396T>ACA371696704PDP1c.1337T>A (p.Ile446Lys)
c.1412T>A (p.Ile471Lys)
c.1391T>A (p.Ile464Lys)
c.1499T>A (p.Ile500Lys)
8g.93923396T>CCA371696706PDP1c.1337T>C (p.Ile446Thr)
c.1412T>C (p.Ile471Thr)
c.1391T>C (p.Ile464Thr)
c.1499T>C (p.Ile500Thr)
8g.93923396T>GCA371696707PDP1c.1337T>G (p.Ile446Arg)
c.1412T>G (p.Ile471Arg)
c.1391T>G (p.Ile464Arg)
c.1499T>G (p.Ile500Arg)
8g.93923397A>CCA462118191PDP1c.1338A>C (p.Ile446=)
c.1413A>C (p.Ile471=)
c.1392A>C (p.Ile464=)
c.1500A>C (p.Ile500=)
8g.93923397A>GCA371696710PDP1c.1338A>G (p.Ile446Met)
c.1413A>G (p.Ile471Met)
c.1392A>G (p.Ile464Met)
c.1500A>G (p.Ile500Met)
8g.93923397A>TCA462118192PDP1c.1338A>T (p.Ile446=)
c.1413A>T (p.Ile471=)
c.1392A>T (p.Ile464=)
c.1500A>T (p.Ile500=)
8g.93923398G>ACA371696712PDP1c.1339G>A (p.Ala447Thr)
c.1414G>A (p.Ala472Thr)
c.1393G>A (p.Ala465Thr)
c.1501G>A (p.Ala501Thr)
8g.93923398G>CCA371696714PDP1c.1339G>C (p.Ala447Pro)
c.1414G>C (p.Ala472Pro)
c.1393G>C (p.Ala465Pro)
c.1501G>C (p.Ala501Pro)
 dbSNP gnomAD v4
8g.93923398G=CA1803280935PDP1c.1339G= (p.Ala447=)
c.1414G= (p.Ala472=)
c.1393G= (p.Ala465=)
c.1501G= (p.Ala501=)
8g.93923398G>TCA371696716PDP1c.1339G>T (p.Ala447Ser)
c.1414G>T (p.Ala472Ser)
c.1393G>T (p.Ala465Ser)
c.1501G>T (p.Ala501Ser)
8g.93923399C>ACA371696721PDP1c.1340C>A (p.Ala447Asp)
c.1415C>A (p.Ala472Asp)
c.1394C>A (p.Ala465Asp)
c.1502C>A (p.Ala501Asp)
8g.93923399C>GCA371696722PDP1c.1340C>G (p.Ala447Gly)
c.1415C>G (p.Ala472Gly)
c.1394C>G (p.Ala465Gly)
c.1502C>G (p.Ala501Gly)
8g.93923399C>TCA371696719PDP1c.1340C>T (p.Ala447Val)
c.1415C>T (p.Ala472Val)
c.1394C>T (p.Ala465Val)
c.1502C>T (p.Ala501Val)
8g.93923400T>ACA462118193PDP1c.1341T>A (p.Ala447=)
c.1416T>A (p.Ala472=)
c.1395T>A (p.Ala465=)
c.1503T>A (p.Ala501=)
8g.93923400T>CCA462118194PDP1c.1341T>C (p.Ala447=)
c.1416T>C (p.Ala472=)
c.1395T>C (p.Ala465=)
c.1503T>C (p.Ala501=)
8g.93923400T>GCA4808811PDP1c.1341T>G (p.Ala447=)
c.1416T>G (p.Ala472=)
c.1395T>G (p.Ala465=)
c.1503T>G (p.Ala501=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923400T=CA1803280936PDP1c.1341T= (p.Ala447=)
c.1416T= (p.Ala472=)
c.1395T= (p.Ala465=)
c.1503T= (p.Ala501=)
8g.93923401G>ACA181376179PDP1c.1342G>A (p.Val448Ile)
c.1417G>A (p.Val473Ile)
c.1396G>A (p.Val466Ile)
c.1504G>A (p.Val502Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923401G>CCA371696727PDP1c.1342G>C (p.Val448Leu)
c.1417G>C (p.Val473Leu)
c.1396G>C (p.Val466Leu)
c.1504G>C (p.Val502Leu)
8g.93923401G=CA1803280937PDP1c.1342G= (p.Val448=)
c.1417G= (p.Val473=)
c.1396G= (p.Val466=)
c.1504G= (p.Val502=)
8g.93923401G>TCA371696729PDP1c.1342G>T (p.Val448Phe)
c.1417G>T (p.Val473Phe)
c.1396G>T (p.Val466Phe)
c.1504G>T (p.Val502Phe)
8g.93923402T>ACA371696732PDP1c.1343T>A (p.Val448Asp)
c.1418T>A (p.Val473Asp)
c.1397T>A (p.Val466Asp)
c.1505T>A (p.Val502Asp)
8g.93923402T>CCA371696731PDP1c.1343T>C (p.Val448Ala)
c.1418T>C (p.Val473Ala)
c.1397T>C (p.Val466Ala)
c.1505T>C (p.Val502Ala)
8g.93923402T>GCA371696730PDP1c.1343T>G (p.Val448Gly)
c.1418T>G (p.Val473Gly)
c.1397T>G (p.Val466Gly)
c.1505T>G (p.Val502Gly)
8g.93923403T>ACA462118195PDP1c.1344T>A (p.Val448=)
c.1419T>A (p.Val473=)
c.1398T>A (p.Val466=)
c.1506T>A (p.Val502=)
8g.93923403T>CCA462118197PDP1c.1344T>C (p.Val448=)
c.1419T>C (p.Val473=)
c.1398T>C (p.Val466=)
c.1506T>C (p.Val502=)
8g.93923403T>GCA462118196PDP1c.1344T>G (p.Val448=)
c.1419T>G (p.Val473=)
c.1398T>G (p.Val466=)
c.1506T>G (p.Val502=)
8g.93923404G>ACA371696733PDP1c.1345G>A (p.Gly449Ser)
c.1420G>A (p.Gly474Ser)
c.1399G>A (p.Gly467Ser)
c.1507G>A (p.Gly503Ser)
8g.93923404G>CCA371696734PDP1c.1345G>C (p.Gly449Arg)
c.1420G>C (p.Gly474Arg)
c.1399G>C (p.Gly467Arg)
c.1507G>C (p.Gly503Arg)
 gnomAD v4
8g.93923404G>TCA371696735PDP1c.1345G>T (p.Gly449Cys)
c.1420G>T (p.Gly474Cys)
c.1399G>T (p.Gly467Cys)
c.1507G>T (p.Gly503Cys)
8g.93923405G>ACA371696737PDP1c.1346G>A (p.Gly449Asp)
c.1421G>A (p.Gly474Asp)
c.1400G>A (p.Gly467Asp)
c.1508G>A (p.Gly503Asp)
 ClinVar gnomAD v4
8g.93923405G>CCA371696738PDP1c.1346G>C (p.Gly449Ala)
c.1421G>C (p.Gly474Ala)
c.1400G>C (p.Gly467Ala)
c.1508G>C (p.Gly503Ala)
8g.93923405G>TCA371696741PDP1c.1346G>T (p.Gly449Val)
c.1421G>T (p.Gly474Val)
c.1400G>T (p.Gly467Val)
c.1508G>T (p.Gly503Val)
 gnomAD v4
8g.93923406T>ACA462118198PDP1c.1347T>A (p.Gly449=)
c.1422T>A (p.Gly474=)
c.1401T>A (p.Gly467=)
c.1509T>A (p.Gly503=)
8g.93923406T>CCA462118199PDP1c.1347T>C (p.Gly449=)
c.1422T>C (p.Gly474=)
c.1401T>C (p.Gly467=)
c.1509T>C (p.Gly503=)
8g.93923406T>GCA462118200PDP1c.1347T>G (p.Gly449=)
c.1422T>G (p.Gly474=)
c.1401T>G (p.Gly467=)
c.1509T>G (p.Gly503=)
8g.93923407G>ACA371696752PDP1c.1348G>A (p.Gly450Ser)
c.1423G>A (p.Gly475Ser)
c.1402G>A (p.Gly468Ser)
c.1510G>A (p.Gly504Ser)
 gnomAD v4
8g.93923407G>CCA371696749PDP1c.1348G>C (p.Gly450Arg)
c.1423G>C (p.Gly475Arg)
c.1402G>C (p.Gly468Arg)
c.1510G>C (p.Gly504Arg)
8g.93923407G>TCA371696745PDP1c.1348G>T (p.Gly450Cys)
c.1423G>T (p.Gly475Cys)
c.1402G>T (p.Gly468Cys)
c.1510G>T (p.Gly504Cys)
8g.93923408G>ACA371696757PDP1c.1349G>A (p.Gly450Asp)
c.1424G>A (p.Gly475Asp)
c.1403G>A (p.Gly468Asp)
c.1511G>A (p.Gly504Asp)
8g.93923408G>CCA371696759PDP1c.1349G>C (p.Gly450Ala)
c.1424G>C (p.Gly475Ala)
c.1403G>C (p.Gly468Ala)
c.1511G>C (p.Gly504Ala)
8g.93923408G=CA1803280938PDP1c.1349G= (p.Gly450=)
c.1424G= (p.Gly475=)
c.1403G= (p.Gly468=)
c.1511G= (p.Gly504=)
8g.93923408G>TCA371696760PDP1c.1349G>T (p.Gly450Val)
c.1424G>T (p.Gly475Val)
c.1403G>T (p.Gly468Val)
c.1511G>T (p.Gly504Val)
 dbSNP gnomAD v2 gnomAD v4
8g.93923408_93923409insTGCATGCCAGTTAGGTACTCACCA2781329145PDP1c.1349_1350insTGCATGCCAGTTAGGTACTCAC (p.Tyr451AlafsTer31)
c.1424_1425insTGCATGCCAGTTAGGTACTCAC (p.Tyr476AlafsTer31)
c.1403_1404insTGCATGCCAGTTAGGTACTCAC (p.Tyr469AlafsTer31)
c.1511_1512insTGCATGCCAGTTAGGTACTCAC (p.Tyr505AlafsTer31)
8g.93923409C>ACA462118201PDP1c.1350C>A (p.Gly450=)
c.1425C>A (p.Gly475=)
c.1404C>A (p.Gly468=)
c.1512C>A (p.Gly504=)
8g.93923409C=CA1803280939PDP1c.1350C= (p.Gly450=)
c.1425C= (p.Gly475=)
c.1404C= (p.Gly468=)
c.1512C= (p.Gly504=)
8g.93923409C>GCA462118202PDP1c.1350C>G (p.Gly450=)
c.1425C>G (p.Gly475=)
c.1404C>G (p.Gly468=)
c.1512C>G (p.Gly504=)
 dbSNP gnomAD v3 gnomAD v4
8g.93923409C>TCA462118203PDP1c.1350C>T (p.Gly450=)
c.1425C>T (p.Gly475=)
c.1404C>T (p.Gly468=)
c.1512C>T (p.Gly504=)
8g.93923410T>ACA371696763PDP1c.1351T>A (p.Tyr451Asn)
c.1426T>A (p.Tyr476Asn)
c.1405T>A (p.Tyr469Asn)
c.1513T>A (p.Tyr505Asn)
8g.93923410T>CCA371696767PDP1c.1351T>C (p.Tyr451His)
c.1426T>C (p.Tyr476His)
c.1405T>C (p.Tyr469His)
c.1513T>C (p.Tyr505His)
 gnomAD v4
8g.93923410T>GCA371696768PDP1c.1351T>G (p.Tyr451Asp)
c.1426T>G (p.Tyr476Asp)
c.1405T>G (p.Tyr469Asp)
c.1513T>G (p.Tyr505Asp)
8g.93923411A>CCA371696774PDP1c.1352A>C (p.Tyr451Ser)
c.1427A>C (p.Tyr476Ser)
c.1406A>C (p.Tyr469Ser)
c.1514A>C (p.Tyr505Ser)
8g.93923411A>GCA371696770PDP1c.1352A>G (p.Tyr451Cys)
c.1427A>G (p.Tyr476Cys)
c.1406A>G (p.Tyr469Cys)
c.1514A>G (p.Tyr505Cys)
8g.93923411A>TCA371696773PDP1c.1352A>T (p.Tyr451Phe)
c.1427A>T (p.Tyr476Phe)
c.1406A>T (p.Tyr469Phe)
c.1514A>T (p.Tyr505Phe)
8g.93923412C>ACA371696775PDP1c.1353C>A (p.Tyr451Ter)
c.1428C>A (p.Tyr476Ter)
c.1407C>A (p.Tyr469Ter)
c.1515C>A (p.Tyr505Ter)
8g.93923412C>GCA371696778PDP1c.1353C>G (p.Tyr451Ter)
c.1428C>G (p.Tyr476Ter)
c.1407C>G (p.Tyr469Ter)
c.1515C>G (p.Tyr505Ter)
8g.93923412C>TCA462118204PDP1c.1353C>T (p.Tyr451=)
c.1428C>T (p.Tyr476=)
c.1407C>T (p.Tyr469=)
c.1515C>T (p.Tyr505=)
8g.93923413A=CA1803280940PDP1c.1354A= (p.Lys452=)
c.1429A= (p.Lys477=)
c.1408A= (p.Lys470=)
c.1516A= (p.Lys506=)
8g.93923413A>CCA371696780PDP1c.1354A>C (p.Lys452Gln)
c.1429A>C (p.Lys477Gln)
c.1408A>C (p.Lys470Gln)
c.1516A>C (p.Lys506Gln)
 dbSNP
8g.93923413A>GCA4808812PDP1c.1354A>G (p.Lys452Glu)
c.1429A>G (p.Lys477Glu)
c.1408A>G (p.Lys470Glu)
c.1516A>G (p.Lys506Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923413A>TCA371696781PDP1c.1354A>T (p.Lys452Ter)
c.1429A>T (p.Lys477Ter)
c.1408A>T (p.Lys470Ter)
c.1516A>T (p.Lys506Ter)
8g.93923414A=CA1803280941PDP1c.1355A= (p.Lys452=)
c.1430A= (p.Lys477=)
c.1409A= (p.Lys470=)
c.1517A= (p.Lys506=)
8g.93923414A>CCA371696782PDP1c.1355A>C (p.Lys452Thr)
c.1430A>C (p.Lys477Thr)
c.1409A>C (p.Lys470Thr)
c.1517A>C (p.Lys506Thr)
 ClinVar dbSNP
8g.93923414A>GCA4808813PDP1c.1355A>G (p.Lys452Arg)
c.1430A>G (p.Lys477Arg)
c.1409A>G (p.Lys470Arg)
c.1517A>G (p.Lys506Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923414A>TCA371696783PDP1c.1355A>T (p.Lys452Met)
c.1430A>T (p.Lys477Met)
c.1409A>T (p.Lys470Met)
c.1517A>T (p.Lys506Met)
8g.93923415G>ACA4808814PDP1c.1356G>A (p.Lys452=)
c.1431G>A (p.Lys477=)
c.1410G>A (p.Lys470=)
c.1518G>A (p.Lys506=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923415G>CCA371696786PDP1c.1356G>C (p.Lys452Asn)
c.1431G>C (p.Lys477Asn)
c.1410G>C (p.Lys470Asn)
c.1518G>C (p.Lys506Asn)
8g.93923415G=CA1803280942PDP1c.1356G= (p.Lys452=)
c.1431G= (p.Lys477=)
c.1410G= (p.Lys470=)
c.1518G= (p.Lys506=)
8g.93923415G>TCA371696787PDP1c.1356G>T (p.Lys452Asn)
c.1431G>T (p.Lys477Asn)
c.1410G>T (p.Lys470Asn)
c.1518G>T (p.Lys506Asn)
8g.93923416G>ACA371696788PDP1c.1357G>A (p.Val453Met)
c.1432G>A (p.Val478Met)
c.1411G>A (p.Val471Met)
c.1519G>A (p.Val507Met)
8g.93923416G>CCA371696789PDP1c.1357G>C (p.Val453Leu)
c.1432G>C (p.Val478Leu)
c.1411G>C (p.Val471Leu)
c.1519G>C (p.Val507Leu)
8g.93923416G>TCA371696790PDP1c.1357G>T (p.Val453Leu)
c.1432G>T (p.Val478Leu)
c.1411G>T (p.Val471Leu)
c.1519G>T (p.Val507Leu)
 gnomAD v4
8g.93923417T>ACA371696791PDP1c.1358T>A (p.Val453Glu)
c.1433T>A (p.Val478Glu)
c.1412T>A (p.Val471Glu)
c.1520T>A (p.Val507Glu)
8g.93923417T>CCA371696792PDP1c.1358T>C (p.Val453Ala)
c.1433T>C (p.Val478Ala)
c.1412T>C (p.Val471Ala)
c.1520T>C (p.Val507Ala)
8g.93923417T>GCA371696795PDP1c.1358T>G (p.Val453Gly)
c.1433T>G (p.Val478Gly)
c.1412T>G (p.Val471Gly)
c.1520T>G (p.Val507Gly)
 dbSNP
8g.93923417T=CA1803280943PDP1c.1358T= (p.Val453=)
c.1433T= (p.Val478=)
c.1412T= (p.Val471=)
c.1520T= (p.Val507=)
8g.93923418G>ACA462118205PDP1c.1359G>A (p.Val453=)
c.1434G>A (p.Val478=)
c.1413G>A (p.Val471=)
c.1521G>A (p.Val507=)
8g.93923418G>CCA462118206PDP1c.1359G>C (p.Val453=)
c.1434G>C (p.Val478=)
c.1413G>C (p.Val471=)
c.1521G>C (p.Val507=)
8g.93923418G>TCA462118207PDP1c.1359G>T (p.Val453=)
c.1434G>T (p.Val478=)
c.1413G>T (p.Val471=)
c.1521G>T (p.Val507=)
8g.93923419A=CA1803280944PDP1c.1360A= (p.Thr454=)
c.1435A= (p.Thr479=)
c.1414A= (p.Thr472=)
c.1522A= (p.Thr508=)
8g.93923419A>CCA371696796PDP1c.1360A>C (p.Thr454Pro)
c.1435A>C (p.Thr479Pro)
c.1414A>C (p.Thr472Pro)
c.1522A>C (p.Thr508Pro)
8g.93923419A>GCA371696797PDP1c.1360A>G (p.Thr454Ala)
c.1435A>G (p.Thr479Ala)
c.1414A>G (p.Thr472Ala)
c.1522A>G (p.Thr508Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.93923419A>TCA371696798PDP1c.1360A>T (p.Thr454Ser)
c.1435A>T (p.Thr479Ser)
c.1414A>T (p.Thr472Ser)
c.1522A>T (p.Thr508Ser)
8g.93923420C>ACA371696801PDP1c.1361C>A (p.Thr454Asn)
c.1436C>A (p.Thr479Asn)
c.1415C>A (p.Thr472Asn)
c.1523C>A (p.Thr508Asn)
8g.93923420C>GCA371696803PDP1c.1361C>G (p.Thr454Ser)
c.1436C>G (p.Thr479Ser)
c.1415C>G (p.Thr472Ser)
c.1523C>G (p.Thr508Ser)
8g.93923420C>TCA371696799PDP1c.1361C>T (p.Thr454Ile)
c.1436C>T (p.Thr479Ile)
c.1415C>T (p.Thr472Ile)
c.1523C>T (p.Thr508Ile)
8g.93923421T>ACA462118208PDP1c.1362T>A (p.Thr454=)
c.1437T>A (p.Thr479=)
c.1416T>A (p.Thr472=)
c.1524T>A (p.Thr508=)
8g.93923421T>CCA462118209PDP1c.1362T>C (p.Thr454=)
c.1437T>C (p.Thr479=)
c.1416T>C (p.Thr472=)
c.1524T>C (p.Thr508=)
8g.93923421T>GCA462118210PDP1c.1362T>G (p.Thr454=)
c.1437T>G (p.Thr479=)
c.1416T>G (p.Thr472=)
c.1524T>G (p.Thr508=)

Number of alleles fetched