Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.93923436T>ACA371696878PDP1c.1377T>A (p.His459Gln)
c.1452T>A (p.His484Gln)
c.1431T>A (p.His477Gln)
c.1539T>A (p.His513Gln)
8g.93923436T>CCA462118219PDP1c.1377T>C (p.His459=)
c.1452T>C (p.His484=)
c.1431T>C (p.His477=)
c.1539T>C (p.His513=)
 dbSNP
8g.93923436T>GCA371696879PDP1c.1377T>G (p.His459Gln)
c.1452T>G (p.His484Gln)
c.1431T>G (p.His477Gln)
c.1539T>G (p.His513Gln)
8g.93923437G>ACA371696880PDP1c.1378G>A (p.Gly460Ser)
c.1453G>A (p.Gly485Ser)
c.1432G>A (p.Gly478Ser)
c.1540G>A (p.Gly514Ser)
 gnomAD v4
8g.93923437G>CCA371696881PDP1c.1378G>C (p.Gly460Arg)
c.1453G>C (p.Gly485Arg)
c.1432G>C (p.Gly478Arg)
c.1540G>C (p.Gly514Arg)
8g.93923437G>TCA371696882PDP1c.1378G>T (p.Gly460Cys)
c.1453G>T (p.Gly485Cys)
c.1432G>T (p.Gly478Cys)
c.1540G>T (p.Gly514Cys)
8g.93923438G>ACA371696883PDP1c.1379G>A (p.Gly460Asp)
c.1454G>A (p.Gly485Asp)
c.1433G>A (p.Gly478Asp)
c.1541G>A (p.Gly514Asp)
8g.93923438G>CCA371696884PDP1c.1379G>C (p.Gly460Ala)
c.1454G>C (p.Gly485Ala)
c.1433G>C (p.Gly478Ala)
c.1541G>C (p.Gly514Ala)
 gnomAD v4
8g.93923438G>TCA371696886PDP1c.1379G>T (p.Gly460Val)
c.1454G>T (p.Gly485Val)
c.1433G>T (p.Gly478Val)
c.1541G>T (p.Gly514Val)
 gnomAD v4
8g.93923438_93923445delinsGCCTTTTACA1803280951PDP1c.1379_1386delinsGCCTTTTA (p.Gly460=)
c.1454_1461delinsGCCTTTTA (p.Gly485=)
c.1433_1440delinsGCCTTTTA (p.Gly478=)
c.1541_1548delinsGCCTTTTA (p.Gly514=)
8g.93923439C>ACA462118220PDP1c.1380C>A (p.Gly460=)
c.1455C>A (p.Gly485=)
c.1434C>A (p.Gly478=)
c.1542C>A (p.Gly514=)
8g.93923439C>GCA462118221PDP1c.1380C>G (p.Gly460=)
c.1455C>G (p.Gly485=)
c.1434C>G (p.Gly478=)
c.1542C>G (p.Gly514=)
8g.93923439C>TCA462118222PDP1c.1380C>T (p.Gly460=)
c.1455C>T (p.Gly485=)
c.1434C>T (p.Gly478=)
c.1542C>T (p.Gly514=)
8g.93923439_93923445delCA4808818PDP1c.1380_1386del (p.Leu461GlnfsTer?)
c.1455_1461del (p.Leu486GlnfsTer?)
c.1434_1440del (p.Leu479GlnfsTer?)
c.1542_1548del (p.Leu515GlnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923440C>ACA371696889PDP1c.1381C>A (p.Leu461Ile)
c.1456C>A (p.Leu486Ile)
c.1435C>A (p.Leu479Ile)
c.1543C>A (p.Leu515Ile)
8g.93923440C=CA1803280952PDP1c.1381C= (p.Leu461=)
c.1456C= (p.Leu486=)
c.1435C= (p.Leu479=)
c.1543C= (p.Leu515=)
8g.93923440C>GCA371696892PDP1c.1381C>G (p.Leu461Val)
c.1456C>G (p.Leu486Val)
c.1435C>G (p.Leu479Val)
c.1543C>G (p.Leu515Val)
 dbSNP gnomAD v3 gnomAD v4
8g.93923440C>TCA371696894PDP1c.1381C>T (p.Leu461Phe)
c.1456C>T (p.Leu486Phe)
c.1435C>T (p.Leu479Phe)
c.1543C>T (p.Leu515Phe)
 gnomAD v4
8g.93923441T>ACA371696900PDP1c.1382T>A (p.Leu461His)
c.1457T>A (p.Leu486His)
c.1436T>A (p.Leu479His)
c.1544T>A (p.Leu515His)
8g.93923441T>CCA371696899PDP1c.1382T>C (p.Leu461Pro)
c.1457T>C (p.Leu486Pro)
c.1436T>C (p.Leu479Pro)
c.1544T>C (p.Leu515Pro)
8g.93923441T>GCA371696896PDP1c.1382T>G (p.Leu461Arg)
c.1457T>G (p.Leu486Arg)
c.1436T>G (p.Leu479Arg)
c.1544T>G (p.Leu515Arg)
8g.93923442T>ACA462118223PDP1c.1383T>A (p.Leu461=)
c.1458T>A (p.Leu486=)
c.1437T>A (p.Leu479=)
c.1545T>A (p.Leu515=)
8g.93923442T>CCA462118224PDP1c.1383T>C (p.Leu461=)
c.1458T>C (p.Leu486=)
c.1437T>C (p.Leu479=)
c.1545T>C (p.Leu515=)
8g.93923442T>GCA462118225PDP1c.1383T>G (p.Leu461=)
c.1458T>G (p.Leu486=)
c.1437T>G (p.Leu479=)
c.1545T>G (p.Leu515=)
8g.93923443T>ACA371696903PDP1c.1384T>A (p.Leu462Ile)
c.1459T>A (p.Leu487Ile)
c.1438T>A (p.Leu480Ile)
c.1546T>A (p.Leu516Ile)
8g.93923443T>CCA462118226PDP1c.1384T>C (p.Leu462=)
c.1459T>C (p.Leu487=)
c.1438T>C (p.Leu480=)
c.1546T>C (p.Leu516=)
8g.93923443T>GCA371696905PDP1c.1384T>G (p.Leu462Val)
c.1459T>G (p.Leu487Val)
c.1438T>G (p.Leu480Val)
c.1546T>G (p.Leu516Val)
8g.93923444T>ACA371696912PDP1c.1385T>A (p.Leu462Ter)
c.1460T>A (p.Leu487Ter)
c.1439T>A (p.Leu480Ter)
c.1547T>A (p.Leu516Ter)
8g.93923444T>CCA371696914PDP1c.1385T>C (p.Leu462Ser)
c.1460T>C (p.Leu487Ser)
c.1439T>C (p.Leu480Ser)
c.1547T>C (p.Leu516Ser)
8g.93923444T>GCA371696916PDP1c.1385T>G (p.Leu462Ter)
c.1460T>G (p.Leu487Ter)
c.1439T>G (p.Leu480Ter)
c.1547T>G (p.Leu516Ter)
8g.93923445A>CCA371696920PDP1c.1386A>C (p.Leu462Phe)
c.1461A>C (p.Leu487Phe)
c.1440A>C (p.Leu480Phe)
c.1548A>C (p.Leu516Phe)
8g.93923445A>GCA462118227PDP1c.1386A>G (p.Leu462=)
c.1461A>G (p.Leu487=)
c.1440A>G (p.Leu480=)
c.1548A>G (p.Leu516=)
8g.93923445A>TCA371696921PDP1c.1386A>T (p.Leu462Phe)
c.1461A>T (p.Leu487Phe)
c.1440A>T (p.Leu480Phe)
c.1548A>T (p.Leu516Phe)
8g.93923446A>CCA371696924PDP1c.1387A>C (p.Thr463Pro)
c.1462A>C (p.Thr488Pro)
c.1441A>C (p.Thr481Pro)
c.1549A>C (p.Thr517Pro)
8g.93923446A>GCA371696925PDP1c.1387A>G (p.Thr463Ala)
c.1462A>G (p.Thr488Ala)
c.1441A>G (p.Thr481Ala)
c.1549A>G (p.Thr517Ala)
 gnomAD v4
8g.93923446A>TCA371696929PDP1c.1387A>T (p.Thr463Ser)
c.1462A>T (p.Thr488Ser)
c.1441A>T (p.Thr481Ser)
c.1549A>T (p.Thr517Ser)
8g.93923447C>ACA371696933PDP1c.1388C>A (p.Thr463Lys)
c.1463C>A (p.Thr488Lys)
c.1442C>A (p.Thr481Lys)
c.1550C>A (p.Thr517Lys)
8g.93923447C>GCA371696935PDP1c.1388C>G (p.Thr463Arg)
c.1463C>G (p.Thr488Arg)
c.1442C>G (p.Thr481Arg)
c.1550C>G (p.Thr517Arg)
8g.93923447C>TCA371696936PDP1c.1388C>T (p.Thr463Ile)
c.1463C>T (p.Thr488Ile)
c.1442C>T (p.Thr481Ile)
c.1550C>T (p.Thr517Ile)
8g.93923448A>CCA462118228PDP1c.1389A>C (p.Thr463=)
c.1464A>C (p.Thr488=)
c.1443A>C (p.Thr481=)
c.1551A>C (p.Thr517=)
 gnomAD v4
8g.93923448A>GCA462118229PDP1c.1389A>G (p.Thr463=)
c.1464A>G (p.Thr488=)
c.1443A>G (p.Thr481=)
c.1551A>G (p.Thr517=)
8g.93923448A>TCA462118230PDP1c.1389A>T (p.Thr463=)
c.1464A>T (p.Thr488=)
c.1443A>T (p.Thr481=)
c.1551A>T (p.Thr517=)
8g.93923449G>ACA371696940PDP1c.1390G>A (p.Glu464Lys)
c.1465G>A (p.Glu489Lys)
c.1444G>A (p.Glu482Lys)
c.1552G>A (p.Glu518Lys)
8g.93923449G>CCA371696941PDP1c.1390G>C (p.Glu464Gln)
c.1465G>C (p.Glu489Gln)
c.1444G>C (p.Glu482Gln)
c.1552G>C (p.Glu518Gln)
8g.93923449G>TCA371696939PDP1c.1390G>T (p.Glu464Ter)
c.1465G>T (p.Glu489Ter)
c.1444G>T (p.Glu482Ter)
c.1552G>T (p.Glu518Ter)
8g.93923450A=CA1803280953PDP1c.1391A= (p.Glu464=)
c.1466A= (p.Glu489=)
c.1445A= (p.Glu482=)
c.1553A= (p.Glu518=)
8g.93923450A>CCA371696942PDP1c.1391A>C (p.Glu464Ala)
c.1466A>C (p.Glu489Ala)
c.1445A>C (p.Glu482Ala)
c.1553A>C (p.Glu518Ala)
8g.93923450A>GCA371696943PDP1c.1391A>G (p.Glu464Gly)
c.1466A>G (p.Glu489Gly)
c.1445A>G (p.Glu482Gly)
c.1553A>G (p.Glu518Gly)
 gnomAD v4
8g.93923450A>TCA371696944PDP1c.1391A>T (p.Glu464Val)
c.1466A>T (p.Glu489Val)
c.1445A>T (p.Glu482Val)
c.1553A>T (p.Glu518Val)
 dbSNP gnomAD v4
8g.93923451A=CA1803280954PDP1c.1392A= (p.Glu464=)
c.1467A= (p.Glu489=)
c.1446A= (p.Glu482=)
c.1554A= (p.Glu518=)
8g.93923451A>CCA371696945PDP1c.1392A>C (p.Glu464Asp)
c.1467A>C (p.Glu489Asp)
c.1446A>C (p.Glu482Asp)
c.1554A>C (p.Glu518Asp)
 dbSNP gnomAD v4
8g.93923451A>GCA462118231PDP1c.1392A>G (p.Glu464=)
c.1467A>G (p.Glu489=)
c.1446A>G (p.Glu482=)
c.1554A>G (p.Glu518=)
8g.93923451A>TCA371696946PDP1c.1392A>T (p.Glu464Asp)
c.1467A>T (p.Glu489Asp)
c.1446A>T (p.Glu482Asp)
c.1554A>T (p.Glu518Asp)
8g.93923452A=CA1803280955PDP1c.1393A= (p.Arg465=)
c.1468A= (p.Arg490=)
c.1447A= (p.Arg483=)
c.1555A= (p.Arg519=)
8g.93923452A>CCA462118232PDP1c.1393A>C (p.Arg465=)
c.1468A>C (p.Arg490=)
c.1447A>C (p.Arg483=)
c.1555A>C (p.Arg519=)
8g.93923452A>GCA4808819PDP1c.1393A>G (p.Arg465Gly)
c.1468A>G (p.Arg490Gly)
c.1447A>G (p.Arg483Gly)
c.1555A>G (p.Arg519Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923452A>TCA371696950PDP1c.1393A>T (p.Arg465Trp)
c.1468A>T (p.Arg490Trp)
c.1447A>T (p.Arg483Trp)
c.1555A>T (p.Arg519Trp)
8g.93923454_93923456delCA2687927874PDP1c.1395_1397del (p.Arg466del)
c.1470_1472del (p.Arg491del)
c.1449_1451del (p.Arg484del)
c.1557_1559del (p.Arg520del)
 gnomAD v4
8g.93923453G>ACA371696953PDP1c.1394G>A (p.Arg465Lys)
c.1469G>A (p.Arg490Lys)
c.1448G>A (p.Arg483Lys)
c.1556G>A (p.Arg519Lys)
8g.93923453G>CCA371696958PDP1c.1394G>C (p.Arg465Thr)
c.1469G>C (p.Arg490Thr)
c.1448G>C (p.Arg483Thr)
c.1556G>C (p.Arg519Thr)
8g.93923453G>TCA371696955PDP1c.1394G>T (p.Arg465Met)
c.1469G>T (p.Arg490Met)
c.1448G>T (p.Arg483Met)
c.1556G>T (p.Arg519Met)
8g.93923454G>ACA462118233PDP1c.1395G>A (p.Arg465=)
c.1470G>A (p.Arg490=)
c.1449G>A (p.Arg483=)
c.1557G>A (p.Arg519=)
8g.93923454G>CCA371696965PDP1c.1395G>C (p.Arg465Ser)
c.1470G>C (p.Arg490Ser)
c.1449G>C (p.Arg483Ser)
c.1557G>C (p.Arg519Ser)
8g.93923454G>TCA371696966PDP1c.1395G>T (p.Arg465Ser)
c.1470G>T (p.Arg490Ser)
c.1449G>T (p.Arg483Ser)
c.1557G>T (p.Arg519Ser)
 COSMIC COSMIC
8g.93923455A>CCA462118234PDP1c.1396A>C (p.Arg466=)
c.1471A>C (p.Arg491=)
c.1450A>C (p.Arg484=)
c.1558A>C (p.Arg520=)
8g.93923455A>GCA371696968PDP1c.1396A>G (p.Arg466Gly)
c.1471A>G (p.Arg491Gly)
c.1450A>G (p.Arg484Gly)
c.1558A>G (p.Arg520Gly)
8g.93923455A>TCA371696971PDP1c.1396A>T (p.Arg466Ter)
c.1471A>T (p.Arg491Ter)
c.1450A>T (p.Arg484Ter)
c.1558A>T (p.Arg520Ter)
8g.93923456G>ACA371696980PDP1c.1397G>A (p.Arg466Lys)
c.1472G>A (p.Arg491Lys)
c.1451G>A (p.Arg484Lys)
c.1559G>A (p.Arg520Lys)
8g.93923456G>CCA371696974PDP1c.1397G>C (p.Arg466Thr)
c.1472G>C (p.Arg491Thr)
c.1451G>C (p.Arg484Thr)
c.1559G>C (p.Arg520Thr)
8g.93923456G>TCA371696978PDP1c.1397G>T (p.Arg466Ile)
c.1472G>T (p.Arg491Ile)
c.1451G>T (p.Arg484Ile)
c.1559G>T (p.Arg520Ile)
 gnomAD v4
8g.93923457A=CA1803280956PDP1c.1398A= (p.Arg466=)
c.1473A= (p.Arg491=)
c.1452A= (p.Arg484=)
c.1560A= (p.Arg520=)
8g.93923457A>CCA371696983PDP1c.1398A>C (p.Arg466Ser)
c.1473A>C (p.Arg491Ser)
c.1452A>C (p.Arg484Ser)
c.1560A>C (p.Arg520Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.93923457A>GCA4808820PDP1c.1398A>G (p.Arg466=)
c.1473A>G (p.Arg491=)
c.1452A>G (p.Arg484=)
c.1560A>G (p.Arg520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923457A>TCA371696989PDP1c.1398A>T (p.Arg466Ser)
c.1473A>T (p.Arg491Ser)
c.1452A>T (p.Arg484Ser)
c.1560A>T (p.Arg520Ser)
8g.93923458A>CCA371696993PDP1c.1399A>C (p.Thr467Pro)
c.1474A>C (p.Thr492Pro)
c.1453A>C (p.Thr485Pro)
c.1561A>C (p.Thr521Pro)
8g.93923458A>GCA371696998PDP1c.1399A>G (p.Thr467Ala)
c.1474A>G (p.Thr492Ala)
c.1453A>G (p.Thr485Ala)
c.1561A>G (p.Thr521Ala)
 gnomAD v4
8g.93923458A>TCA371697001PDP1c.1399A>T (p.Thr467Ser)
c.1474A>T (p.Thr492Ser)
c.1453A>T (p.Thr485Ser)
c.1561A>T (p.Thr521Ser)
8g.93923458_93923459delinsACCA1803280957PDP1c.1399_1400delinsAC (p.Thr467=)
c.1474_1475delinsAC (p.Thr492=)
c.1453_1454delinsAC (p.Thr485=)
c.1561_1562delinsAC (p.Thr521=)
8g.93923459C>ACA371697005PDP1c.1400C>A (p.Thr467Asn)
c.1475C>A (p.Thr492Asn)
c.1454C>A (p.Thr485Asn)
c.1562C>A (p.Thr521Asn)
8g.93923459C=CA1803280958PDP1c.1400C= (p.Thr467=)
c.1475C= (p.Thr492=)
c.1454C= (p.Thr485=)
c.1562C= (p.Thr521=)
8g.93923459C>GCA4808821PDP1c.1400C>G (p.Thr467Ser)
c.1475C>G (p.Thr492Ser)
c.1454C>G (p.Thr485Ser)
c.1562C>G (p.Thr521Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923459C>TCA371697013PDP1c.1400C>T (p.Thr467Ile)
c.1475C>T (p.Thr492Ile)
c.1454C>T (p.Thr485Ile)
c.1562C>T (p.Thr521Ile)
8g.93923460delCA857071939PDP1c.1401del (p.Met469CysfsTer?)
c.1476del (p.Met494CysfsTer?)
c.1455del (p.Met487CysfsTer?)
c.1563del (p.Met523CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
8g.93923460C>ACA462118235PDP1c.1401C>A (p.Thr467=)
c.1476C>A (p.Thr492=)
c.1455C>A (p.Thr485=)
c.1563C>A (p.Thr521=)
8g.93923460C>GCA462118237PDP1c.1401C>G (p.Thr467=)
c.1476C>G (p.Thr492=)
c.1455C>G (p.Thr485=)
c.1563C>G (p.Thr521=)
 gnomAD v4
8g.93923460C>TCA462118236PDP1c.1401C>T (p.Thr467=)
c.1476C>T (p.Thr492=)
c.1455C>T (p.Thr485=)
c.1563C>T (p.Thr521=)
8g.93923461A=CA1803280959PDP1c.1402A= (p.Lys468=)
c.1477A= (p.Lys493=)
c.1456A= (p.Lys486=)
c.1564A= (p.Lys522=)
8g.93923461A>CCA371697017PDP1c.1402A>C (p.Lys468Gln)
c.1477A>C (p.Lys493Gln)
c.1456A>C (p.Lys486Gln)
c.1564A>C (p.Lys522Gln)
8g.93923461A>GCA4808822PDP1c.1402A>G (p.Lys468Glu)
c.1477A>G (p.Lys493Glu)
c.1456A>G (p.Lys486Glu)
c.1564A>G (p.Lys522Glu)
 dbSNP ExAC gnomAD v2
8g.93923461A>TCA371697024PDP1c.1402A>T (p.Lys468Ter)
c.1477A>T (p.Lys493Ter)
c.1456A>T (p.Lys486Ter)
c.1564A>T (p.Lys522Ter)
8g.93923462A>CCA371697027PDP1c.1403A>C (p.Lys468Thr)
c.1478A>C (p.Lys493Thr)
c.1457A>C (p.Lys486Thr)
c.1565A>C (p.Lys522Thr)
8g.93923462A>GCA371697032PDP1c.1403A>G (p.Lys468Arg)
c.1478A>G (p.Lys493Arg)
c.1457A>G (p.Lys486Arg)
c.1565A>G (p.Lys522Arg)
8g.93923462A>TCA371697031PDP1c.1403A>T (p.Lys468Ile)
c.1478A>T (p.Lys493Ile)
c.1457A>T (p.Lys486Ile)
c.1565A>T (p.Lys522Ile)
8g.93923463A>CCA371697034PDP1c.1404A>C (p.Lys468Asn)
c.1479A>C (p.Lys493Asn)
c.1458A>C (p.Lys486Asn)
c.1566A>C (p.Lys522Asn)
8g.93923463A>GCA462118238PDP1c.1404A>G (p.Lys468=)
c.1479A>G (p.Lys493=)
c.1458A>G (p.Lys486=)
c.1566A>G (p.Lys522=)
8g.93923463A>TCA371697037PDP1c.1404A>T (p.Lys468Asn)
c.1479A>T (p.Lys493Asn)
c.1458A>T (p.Lys486Asn)
c.1566A>T (p.Lys522Asn)
8g.93923464A>CCA371697040PDP1c.1405A>C (p.Met469Leu)
c.1480A>C (p.Met494Leu)
c.1459A>C (p.Met487Leu)
c.1567A>C (p.Met523Leu)
8g.93923464A>GCA371697041PDP1c.1405A>G (p.Met469Val)
c.1480A>G (p.Met494Val)
c.1459A>G (p.Met487Val)
c.1567A>G (p.Met523Val)
8g.93923464A>TCA371697042PDP1c.1405A>T (p.Met469Leu)
c.1480A>T (p.Met494Leu)
c.1459A>T (p.Met487Leu)
c.1567A>T (p.Met523Leu)
8g.93923465T>ACA371697043PDP1c.1406T>A (p.Met469Lys)
c.1481T>A (p.Met494Lys)
c.1460T>A (p.Met487Lys)
c.1568T>A (p.Met523Lys)
8g.93923465T>CCA371697044PDP1c.1406T>C (p.Met469Thr)
c.1481T>C (p.Met494Thr)
c.1460T>C (p.Met487Thr)
c.1568T>C (p.Met523Thr)
8g.93923465T>GCA371697045PDP1c.1406T>G (p.Met469Arg)
c.1481T>G (p.Met494Arg)
c.1460T>G (p.Met487Arg)
c.1568T>G (p.Met523Arg)
8g.93923466G>ACA371697047PDP1c.1407G>A (p.Met469Ile)
c.1482G>A (p.Met494Ile)
c.1461G>A (p.Met487Ile)
c.1569G>A (p.Met523Ile)
 dbSNP gnomAD v4
8g.93923466G>CCA371697050PDP1c.1407G>C (p.Met469Ile)
c.1482G>C (p.Met494Ile)
c.1461G>C (p.Met487Ile)
c.1569G>C (p.Met523Ile)
8g.93923466G=CA1803280960PDP1c.1407G= (p.Met469=)
c.1482G= (p.Met494=)
c.1461G= (p.Met487=)
c.1569G= (p.Met523=)
8g.93923466G>TCA371697052PDP1c.1407G>T (p.Met469Ile)
c.1482G>T (p.Met494Ile)
c.1461G>T (p.Met487Ile)
c.1569G>T (p.Met523Ile)
8g.93923467T>ACA371697060PDP1c.1408T>A (p.Ser470Thr)
c.1483T>A (p.Ser495Thr)
c.1462T>A (p.Ser488Thr)
c.1570T>A (p.Ser524Thr)
8g.93923467T>CCA181376233PDP1c.1408T>C (p.Ser470Pro)
c.1483T>C (p.Ser495Pro)
c.1462T>C (p.Ser488Pro)
c.1570T>C (p.Ser524Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923467T>GCA371697055PDP1c.1408T>G (p.Ser470Ala)
c.1483T>G (p.Ser495Ala)
c.1462T>G (p.Ser488Ala)
c.1570T>G (p.Ser524Ala)
8g.93923467T=CA1803280961PDP1c.1408T= (p.Ser470=)
c.1483T= (p.Ser495=)
c.1462T= (p.Ser488=)
c.1570T= (p.Ser524=)
8g.93923468C>ACA371697063PDP1c.1409C>A (p.Ser470Tyr)
c.1484C>A (p.Ser495Tyr)
c.1463C>A (p.Ser488Tyr)
c.1571C>A (p.Ser524Tyr)
8g.93923468C=CA1803280962PDP1c.1409C= (p.Ser470=)
c.1484C= (p.Ser495=)
c.1463C= (p.Ser488=)
c.1571C= (p.Ser524=)
8g.93923468C>GCA371697065PDP1c.1409C>G (p.Ser470Cys)
c.1484C>G (p.Ser495Cys)
c.1463C>G (p.Ser488Cys)
c.1571C>G (p.Ser524Cys)
8g.93923468C>TCA371697069PDP1c.1409C>T (p.Ser470Phe)
c.1484C>T (p.Ser495Phe)
c.1463C>T (p.Ser488Phe)
c.1571C>T (p.Ser524Phe)
 dbSNP
8g.93923469C>ACA462118239PDP1c.1410C>A (p.Ser470=)
c.1485C>A (p.Ser495=)
c.1464C>A (p.Ser488=)
c.1572C>A (p.Ser524=)
8g.93923469C>GCA462118240PDP1c.1410C>G (p.Ser470=)
c.1485C>G (p.Ser495=)
c.1464C>G (p.Ser488=)
c.1572C>G (p.Ser524=)
8g.93923469C>TCA462118241PDP1c.1410C>T (p.Ser470=)
c.1485C>T (p.Ser495=)
c.1464C>T (p.Ser488=)
c.1572C>T (p.Ser524=)
 gnomAD v4
8g.93923470T>ACA371697072PDP1c.1411T>A (p.Ser471Thr)
c.1486T>A (p.Ser496Thr)
c.1465T>A (p.Ser489Thr)
c.1573T>A (p.Ser525Thr)
8g.93923470T>CCA371697073PDP1c.1411T>C (p.Ser471Pro)
c.1486T>C (p.Ser496Pro)
c.1465T>C (p.Ser489Pro)
c.1573T>C (p.Ser525Pro)
8g.93923470T>GCA371697074PDP1c.1411T>G (p.Ser471Ala)
c.1486T>G (p.Ser496Ala)
c.1465T>G (p.Ser489Ala)
c.1573T>G (p.Ser525Ala)
8g.93923471C>ACA371697075PDP1c.1412C>A (p.Ser471Ter)
c.1487C>A (p.Ser496Ter)
c.1466C>A (p.Ser489Ter)
c.1574C>A (p.Ser525Ter)
8g.93923471C=CA1803280963PDP1c.1412C= (p.Ser471=)
c.1487C= (p.Ser496=)
c.1466C= (p.Ser489=)
c.1574C= (p.Ser525=)
8g.93923471C>GCA371697076PDP1c.1412C>G (p.Ser471Trp)
c.1487C>G (p.Ser496Trp)
c.1466C>G (p.Ser489Trp)
c.1574C>G (p.Ser525Trp)
8g.93923471C>TCA181376239PDP1c.1412C>T (p.Ser471Leu)
c.1487C>T (p.Ser496Leu)
c.1466C>T (p.Ser489Leu)
c.1574C>T (p.Ser525Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923472G>ACA4808823PDP1c.1413G>A (p.Ser471=)
c.1488G>A (p.Ser496=)
c.1467G>A (p.Ser489=)
c.1575G>A (p.Ser525=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923472G>CCA462118242PDP1c.1413G>C (p.Ser471=)
c.1488G>C (p.Ser496=)
c.1467G>C (p.Ser489=)
c.1575G>C (p.Ser525=)
 dbSNP gnomAD v2 gnomAD v4
8g.93923472G=CA1803280964PDP1c.1413G= (p.Ser471=)
c.1488G= (p.Ser496=)
c.1467G= (p.Ser489=)
c.1575G= (p.Ser525=)
8g.93923472G>TCA462118243PDP1c.1413G>T (p.Ser471=)
c.1488G>T (p.Ser496=)
c.1467G>T (p.Ser489=)
c.1575G>T (p.Ser525=)
8g.93923473G>ACA371697081PDP1c.1414G>A (p.Val472Ile)
c.1489G>A (p.Val497Ile)
c.1468G>A (p.Val490Ile)
c.1576G>A (p.Val526Ile)
8g.93923473G>CCA371697083PDP1c.1414G>C (p.Val472Leu)
c.1489G>C (p.Val497Leu)
c.1468G>C (p.Val490Leu)
c.1576G>C (p.Val526Leu)
8g.93923473G>TCA371697084PDP1c.1414G>T (p.Val472Leu)
c.1489G>T (p.Val497Leu)
c.1468G>T (p.Val490Leu)
c.1576G>T (p.Val526Leu)
8g.93923474T>ACA371697093PDP1c.1415T>A (p.Val472Glu)
c.1490T>A (p.Val497Glu)
c.1469T>A (p.Val490Glu)
c.1577T>A (p.Val526Glu)
8g.93923474T>CCA371697097PDP1c.1415T>C (p.Val472Ala)
c.1490T>C (p.Val497Ala)
c.1469T>C (p.Val490Ala)
c.1577T>C (p.Val526Ala)
8g.93923474T>GCA371697090PDP1c.1415T>G (p.Val472Gly)
c.1490T>G (p.Val497Gly)
c.1469T>G (p.Val490Gly)
c.1577T>G (p.Val526Gly)
 dbSNP
8g.93923474T=CA1803280965PDP1c.1415T= (p.Val472=)
c.1490T= (p.Val497=)
c.1469T= (p.Val490=)
c.1577T= (p.Val526=)
8g.93923475A=CA1803280966PDP1c.1416A= (p.Val472=)
c.1491A= (p.Val497=)
c.1470A= (p.Val490=)
c.1578A= (p.Val526=)
8g.93923475A>CCA462118244PDP1c.1416A>C (p.Val472=)
c.1491A>C (p.Val497=)
c.1470A>C (p.Val490=)
c.1578A>C (p.Val526=)
8g.93923475A>GCA462118245PDP1c.1416A>G (p.Val472=)
c.1491A>G (p.Val497=)
c.1470A>G (p.Val490=)
c.1578A>G (p.Val526=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.93923475A>TCA462118246PDP1c.1416A>T (p.Val472=)
c.1491A>T (p.Val497=)
c.1470A>T (p.Val490=)
c.1578A>T (p.Val526=)
8g.93923476T>ACA371697109PDP1c.1417T>A (p.Phe473Ile)
c.1492T>A (p.Phe498Ile)
c.1471T>A (p.Phe491Ile)
c.1579T>A (p.Phe527Ile)
8g.93923476T>CCA4808824PDP1c.1417T>C (p.Phe473Leu)
c.1492T>C (p.Phe498Leu)
c.1471T>C (p.Phe491Leu)
c.1579T>C (p.Phe527Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923476T>GCA371697107PDP1c.1417T>G (p.Phe473Val)
c.1492T>G (p.Phe498Val)
c.1471T>G (p.Phe491Val)
c.1579T>G (p.Phe527Val)
 gnomAD v4
8g.93923476T=CA1803280967PDP1c.1417T= (p.Phe473=)
c.1492T= (p.Phe498=)
c.1471T= (p.Phe491=)
c.1579T= (p.Phe527=)
8g.93923477T>ACA371697113PDP1c.1418T>A (p.Phe473Tyr)
c.1493T>A (p.Phe498Tyr)
c.1472T>A (p.Phe491Tyr)
c.1580T>A (p.Phe527Tyr)
8g.93923477T>CCA371697116PDP1c.1418T>C (p.Phe473Ser)
c.1493T>C (p.Phe498Ser)
c.1472T>C (p.Phe491Ser)
c.1580T>C (p.Phe527Ser)
8g.93923477T>GCA371697120PDP1c.1418T>G (p.Phe473Cys)
c.1493T>G (p.Phe498Cys)
c.1472T>G (p.Phe491Cys)
c.1580T>G (p.Phe527Cys)
8g.93923478T>ACA371697125PDP1c.1419T>A (p.Phe473Leu)
c.1494T>A (p.Phe498Leu)
c.1473T>A (p.Phe491Leu)
c.1581T>A (p.Phe527Leu)
8g.93923478T>CCA462118247PDP1c.1419T>C (p.Phe473=)
c.1494T>C (p.Phe498=)
c.1473T>C (p.Phe491=)
c.1581T>C (p.Phe527=)
8g.93923478T>GCA371697130PDP1c.1419T>G (p.Phe473Leu)
c.1494T>G (p.Phe498Leu)
c.1473T>G (p.Phe491Leu)
c.1581T>G (p.Phe527Leu)
8g.93923479G>ACA371697137PDP1c.1420G>A (p.Glu474Lys)
c.1495G>A (p.Glu499Lys)
c.1474G>A (p.Glu492Lys)
c.1582G>A (p.Glu528Lys)
8g.93923479G>CCA371697141PDP1c.1420G>C (p.Glu474Gln)
c.1495G>C (p.Glu499Gln)
c.1474G>C (p.Glu492Gln)
c.1582G>C (p.Glu528Gln)
8g.93923479G>TCA371697153PDP1c.1420G>T (p.Glu474Ter)
c.1495G>T (p.Glu499Ter)
c.1474G>T (p.Glu492Ter)
c.1582G>T (p.Glu528Ter)
 gnomAD v4
8g.93923480A>CCA371697156PDP1c.1421A>C (p.Glu474Ala)
c.1496A>C (p.Glu499Ala)
c.1475A>C (p.Glu492Ala)
c.1583A>C (p.Glu528Ala)
8g.93923480A>GCA371697159PDP1c.1421A>G (p.Glu474Gly)
c.1496A>G (p.Glu499Gly)
c.1475A>G (p.Glu492Gly)
c.1583A>G (p.Glu528Gly)
 gnomAD v4
8g.93923480A>TCA371697162PDP1c.1421A>T (p.Glu474Val)
c.1496A>T (p.Glu499Val)
c.1475A>T (p.Glu492Val)
c.1583A>T (p.Glu528Val)
8g.93923481G>ACA462118248PDP1c.1422G>A (p.Glu474=)
c.1497G>A (p.Glu499=)
c.1476G>A (p.Glu492=)
c.1584G>A (p.Glu528=)
 gnomAD v4
8g.93923481G>CCA371697168PDP1c.1422G>C (p.Glu474Asp)
c.1497G>C (p.Glu499Asp)
c.1476G>C (p.Glu492Asp)
c.1584G>C (p.Glu528Asp)
8g.93923481G>TCA371697165PDP1c.1422G>T (p.Glu474Asp)
c.1497G>T (p.Glu499Asp)
c.1476G>T (p.Glu492Asp)
c.1584G>T (p.Glu528Asp)
8g.93923482G>ACA371697171PDP1c.1423G>A (p.Asp475Asn)
c.1498G>A (p.Asp500Asn)
c.1477G>A (p.Asp493Asn)
c.1585G>A (p.Asp529Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923482G>CCA371697174PDP1c.1423G>C (p.Asp475His)
c.1498G>C (p.Asp500His)
c.1477G>C (p.Asp493His)
c.1585G>C (p.Asp529His)
8g.93923482G=CA1803280968PDP1c.1423G= (p.Asp475=)
c.1498G= (p.Asp500=)
c.1477G= (p.Asp493=)
c.1585G= (p.Asp529=)
8g.93923482G>TCA4808825PDP1c.1423G>T (p.Asp475Tyr)
c.1498G>T (p.Asp500Tyr)
c.1477G>T (p.Asp493Tyr)
c.1585G>T (p.Asp529Tyr)
 dbSNP ExAC gnomAD v4
8g.93923483A>CCA371697183PDP1c.1424A>C (p.Asp475Ala)
c.1499A>C (p.Asp500Ala)
c.1478A>C (p.Asp493Ala)
c.1586A>C (p.Asp529Ala)
8g.93923483A>GCA371697184PDP1c.1424A>G (p.Asp475Gly)
c.1499A>G (p.Asp500Gly)
c.1478A>G (p.Asp493Gly)
c.1586A>G (p.Asp529Gly)
8g.93923483A>TCA371697185PDP1c.1424A>T (p.Asp475Val)
c.1499A>T (p.Asp500Val)
c.1478A>T (p.Asp493Val)
c.1586A>T (p.Asp529Val)
 gnomAD v4
8g.93923484T>ACA4808826PDP1c.1425T>A (p.Asp475Glu)
c.1500T>A (p.Asp500Glu)
c.1479T>A (p.Asp493Glu)
c.1587T>A (p.Asp529Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923484T>CCA462118249PDP1c.1425T>C (p.Asp475=)
c.1500T>C (p.Asp500=)
c.1479T>C (p.Asp493=)
c.1587T>C (p.Asp529=)
8g.93923484T>GCA371697186PDP1c.1425T>G (p.Asp475Glu)
c.1500T>G (p.Asp500Glu)
c.1479T>G (p.Asp493Glu)
c.1587T>G (p.Asp529Glu)
8g.93923484T=CA1803280969PDP1c.1425T= (p.Asp475=)
c.1500T= (p.Asp500=)
c.1479T= (p.Asp493=)
c.1587T= (p.Asp529=)
8g.93923485C>ACA371697189PDP1c.1426C>A (p.Gln476Lys)
c.1501C>A (p.Gln501Lys)
c.1480C>A (p.Gln494Lys)
c.1588C>A (p.Gln530Lys)
 gnomAD v4
8g.93923485C>GCA371697191PDP1c.1426C>G (p.Gln476Glu)
c.1501C>G (p.Gln501Glu)
c.1480C>G (p.Gln494Glu)
c.1588C>G (p.Gln530Glu)
8g.93923485C>TCA371697194PDP1c.1426C>T (p.Gln476Ter)
c.1501C>T (p.Gln501Ter)
c.1480C>T (p.Gln494Ter)
c.1588C>T (p.Gln530Ter)
8g.93923486A>CCA371697197PDP1c.1427A>C (p.Gln476Pro)
c.1502A>C (p.Gln501Pro)
c.1481A>C (p.Gln494Pro)
c.1589A>C (p.Gln530Pro)
8g.93923486A>GCA371697201PDP1c.1427A>G (p.Gln476Arg)
c.1502A>G (p.Gln501Arg)
c.1481A>G (p.Gln494Arg)
c.1589A>G (p.Gln530Arg)
 gnomAD v4
8g.93923486A>TCA371697203PDP1c.1427A>T (p.Gln476Leu)
c.1502A>T (p.Gln501Leu)
c.1481A>T (p.Gln494Leu)
c.1589A>T (p.Gln530Leu)
8g.93923486_93923493delCA2687927875PDP1c.1427_1434del (p.Gln476ArgfsTer18)
c.1502_1509del (p.Gln501ArgfsTer18)
c.1481_1488del (p.Gln494ArgfsTer18)
c.1589_1596del (p.Gln530ArgfsTer18)
 gnomAD v4
8g.93923487G>ACA462118250PDP1c.1428G>A (p.Gln476=)
c.1503G>A (p.Gln501=)
c.1482G>A (p.Gln494=)
c.1590G>A (p.Gln530=)
 dbSNP gnomAD v2 gnomAD v4
8g.93923487G>CCA371697207PDP1c.1428G>C (p.Gln476His)
c.1503G>C (p.Gln501His)
c.1482G>C (p.Gln494His)
c.1590G>C (p.Gln530His)
8g.93923487G=CA1803280970PDP1c.1428G= (p.Gln476=)
c.1503G= (p.Gln501=)
c.1482G= (p.Gln494=)
c.1590G= (p.Gln530=)
8g.93923487G>TCA371697205PDP1c.1428G>T (p.Gln476His)
c.1503G>T (p.Gln501His)
c.1482G>T (p.Gln494His)
c.1590G>T (p.Gln530His)
 dbSNP gnomAD v4
8g.93923488A=CA1803280971PDP1c.1429A= (p.Asn477=)
c.1504A= (p.Asn502=)
c.1483A= (p.Asn495=)
c.1591A= (p.Asn531=)
8g.93923488A>CCA371697209PDP1c.1429A>C (p.Asn477His)
c.1504A>C (p.Asn502His)
c.1483A>C (p.Asn495His)
c.1591A>C (p.Asn531His)
8g.93923488A>GCA4808827PDP1c.1429A>G (p.Asn477Asp)
c.1504A>G (p.Asn502Asp)
c.1483A>G (p.Asn495Asp)
c.1591A>G (p.Asn531Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923488A>TCA371697222PDP1c.1429A>T (p.Asn477Tyr)
c.1504A>T (p.Asn502Tyr)
c.1483A>T (p.Asn495Tyr)
c.1591A>T (p.Asn531Tyr)
8g.93923489A>CCA371697227PDP1c.1430A>C (p.Asn477Thr)
c.1505A>C (p.Asn502Thr)
c.1484A>C (p.Asn495Thr)
c.1592A>C (p.Asn531Thr)
8g.93923489A>GCA371697231PDP1c.1430A>G (p.Asn477Ser)
c.1505A>G (p.Asn502Ser)
c.1484A>G (p.Asn495Ser)
c.1592A>G (p.Asn531Ser)
 gnomAD v4
8g.93923489A>TCA371697234PDP1c.1430A>T (p.Asn477Ile)
c.1505A>T (p.Asn502Ile)
c.1484A>T (p.Asn495Ile)
c.1592A>T (p.Asn531Ile)
8g.93923490C>ACA371697240PDP1c.1431C>A (p.Asn477Lys)
c.1506C>A (p.Asn502Lys)
c.1485C>A (p.Asn495Lys)
c.1593C>A (p.Asn531Lys)
8g.93923490C=CA1803280972PDP1c.1431C= (p.Asn477=)
c.1506C= (p.Asn502=)
c.1485C= (p.Asn495=)
c.1593C= (p.Asn531=)
8g.93923490C>GCA371697238PDP1c.1431C>G (p.Asn477Lys)
c.1506C>G (p.Asn502Lys)
c.1485C>G (p.Asn495Lys)
c.1593C>G (p.Asn531Lys)
8g.93923490C>TCA292762PDP1c.1431C>T (p.Asn477=)
c.1506C>T (p.Asn502=)
c.1485C>T (p.Asn495=)
c.1593C>T (p.Asn531=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923491G>ACA4808828PDP1c.1432G>A (p.Ala478Thr)
c.1507G>A (p.Ala503Thr)
c.1486G>A (p.Ala496Thr)
c.1594G>A (p.Ala532Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.93923491G>CCA371697249PDP1c.1432G>C (p.Ala478Pro)
c.1507G>C (p.Ala503Pro)
c.1486G>C (p.Ala496Pro)
c.1594G>C (p.Ala532Pro)
 COSMIC
8g.93923491G=CA1803280973PDP1c.1432G= (p.Ala478=)
c.1507G= (p.Ala503=)
c.1486G= (p.Ala496=)
c.1594G= (p.Ala532=)
8g.93923491G>TCA371697252PDP1c.1432G>T (p.Ala478Ser)
c.1507G>T (p.Ala503Ser)
c.1486G>T (p.Ala496Ser)
c.1594G>T (p.Ala532Ser)
 dbSNP
8g.93923492C>ACA371697257PDP1c.1433C>A (p.Ala478Glu)
c.1508C>A (p.Ala503Glu)
c.1487C>A (p.Ala496Glu)
c.1595C>A (p.Ala532Glu)
8g.93923492C>GCA371697261PDP1c.1433C>G (p.Ala478Gly)
c.1508C>G (p.Ala503Gly)
c.1487C>G (p.Ala496Gly)
c.1595C>G (p.Ala532Gly)
8g.93923492C>TCA371697264PDP1c.1433C>T (p.Ala478Val)
c.1508C>T (p.Ala503Val)
c.1487C>T (p.Ala496Val)
c.1595C>T (p.Ala532Val)
8g.93923493A=CA1803280974PDP1c.1434A= (p.Ala478=)
c.1509A= (p.Ala503=)
c.1488A= (p.Ala496=)
c.1596A= (p.Ala532=)
8g.93923493A>CCA462118251PDP1c.1434A>C (p.Ala478=)
c.1509A>C (p.Ala503=)
c.1488A>C (p.Ala496=)
c.1596A>C (p.Ala532=)
 dbSNP
8g.93923493A>GCA4808829PDP1c.1434A>G (p.Ala478=)
c.1509A>G (p.Ala503=)
c.1488A>G (p.Ala496=)
c.1596A>G (p.Ala532=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923493A>TCA462118252PDP1c.1434A>T (p.Ala478=)
c.1509A>T (p.Ala503=)
c.1488A>T (p.Ala496=)
c.1596A>T (p.Ala532=)
8g.93923494G>ACA371697273PDP1c.1435G>A (p.Ala479Thr)
c.1510G>A (p.Ala504Thr)
c.1489G>A (p.Ala497Thr)
c.1597G>A (p.Ala533Thr)
8g.93923494G>CCA371697281PDP1c.1435G>C (p.Ala479Pro)
c.1510G>C (p.Ala504Pro)
c.1489G>C (p.Ala497Pro)
c.1597G>C (p.Ala533Pro)
8g.93923494G>TCA371697279PDP1c.1435G>T (p.Ala479Ser)
c.1510G>T (p.Ala504Ser)
c.1489G>T (p.Ala497Ser)
c.1597G>T (p.Ala533Ser)
 gnomAD v4
8g.93923495C>ACA371697284PDP1c.1436C>A (p.Ala479Glu)
c.1511C>A (p.Ala504Glu)
c.1490C>A (p.Ala497Glu)
c.1598C>A (p.Ala533Glu)
8g.93923495C>GCA371697290PDP1c.1436C>G (p.Ala479Gly)
c.1511C>G (p.Ala504Gly)
c.1490C>G (p.Ala497Gly)
c.1598C>G (p.Ala533Gly)
8g.93923495C>TCA371697292PDP1c.1436C>T (p.Ala479Val)
c.1511C>T (p.Ala504Val)
c.1490C>T (p.Ala497Val)
c.1598C>T (p.Ala533Val)
8g.93923496A>CCA462118253PDP1c.1437A>C (p.Ala479=)
c.1512A>C (p.Ala504=)
c.1491A>C (p.Ala497=)
c.1599A>C (p.Ala533=)
8g.93923496A>GCA462118254PDP1c.1437A>G (p.Ala479=)
c.1512A>G (p.Ala504=)
c.1491A>G (p.Ala497=)
c.1599A>G (p.Ala533=)
8g.93923496A>TCA462118255PDP1c.1437A>T (p.Ala479=)
c.1512A>T (p.Ala504=)
c.1491A>T (p.Ala497=)
c.1599A>T (p.Ala533=)
8g.93923497A>CCA371697300PDP1c.1438A>C (p.Thr480Pro)
c.1513A>C (p.Thr505Pro)
c.1492A>C (p.Thr498Pro)
c.1600A>C (p.Thr534Pro)
8g.93923497A>GCA371697301PDP1c.1438A>G (p.Thr480Ala)
c.1513A>G (p.Thr505Ala)
c.1492A>G (p.Thr498Ala)
c.1600A>G (p.Thr534Ala)
8g.93923497A>TCA371697303PDP1c.1438A>T (p.Thr480Ser)
c.1513A>T (p.Thr505Ser)
c.1492A>T (p.Thr498Ser)
c.1600A>T (p.Thr534Ser)
 gnomAD v4
8g.93923498C>ACA371697307PDP1c.1439C>A (p.Thr480Asn)
c.1514C>A (p.Thr505Asn)
c.1493C>A (p.Thr498Asn)
c.1601C>A (p.Thr534Asn)
8g.93923498C>GCA371697309PDP1c.1439C>G (p.Thr480Ser)
c.1514C>G (p.Thr505Ser)
c.1493C>G (p.Thr498Ser)
c.1601C>G (p.Thr534Ser)
8g.93923498C>TCA371697312PDP1c.1439C>T (p.Thr480Ile)
c.1514C>T (p.Thr505Ile)
c.1493C>T (p.Thr498Ile)
c.1601C>T (p.Thr534Ile)
 gnomAD v4
8g.93923499C>ACA462118256PDP1c.1440C>A (p.Thr480=)
c.1515C>A (p.Thr505=)
c.1494C>A (p.Thr498=)
c.1602C>A (p.Thr534=)
 gnomAD v4
8g.93923499C>GCA462118257PDP1c.1440C>G (p.Thr480=)
c.1515C>G (p.Thr505=)
c.1494C>G (p.Thr498=)
c.1602C>G (p.Thr534=)
8g.93923499C>TCA462118258PDP1c.1440C>T (p.Thr480=)
c.1515C>T (p.Thr505=)
c.1494C>T (p.Thr498=)
c.1602C>T (p.Thr534=)
8g.93923500C>ACA371697316PDP1c.1441C>A (p.His481Asn)
c.1516C>A (p.His506Asn)
c.1495C>A (p.His499Asn)
c.1603C>A (p.His535Asn)
8g.93923500C>GCA371697320PDP1c.1441C>G (p.His481Asp)
c.1516C>G (p.His506Asp)
c.1495C>G (p.His499Asp)
c.1603C>G (p.His535Asp)
8g.93923500C>TCA371697323PDP1c.1441C>T (p.His481Tyr)
c.1516C>T (p.His506Tyr)
c.1495C>T (p.His499Tyr)
c.1603C>T (p.His535Tyr)
8g.93923501A>CCA371697326PDP1c.1442A>C (p.His481Pro)
c.1517A>C (p.His506Pro)
c.1496A>C (p.His499Pro)
c.1604A>C (p.His535Pro)
8g.93923501A>GCA371697332PDP1c.1442A>G (p.His481Arg)
c.1517A>G (p.His506Arg)
c.1496A>G (p.His499Arg)
c.1604A>G (p.His535Arg)
 gnomAD v4
8g.93923501A>TCA371697328PDP1c.1442A>T (p.His481Leu)
c.1517A>T (p.His506Leu)
c.1496A>T (p.His499Leu)
c.1604A>T (p.His535Leu)
8g.93923502T>ACA371697343PDP1c.1443T>A (p.His481Gln)
c.1518T>A (p.His506Gln)
c.1497T>A (p.His499Gln)
c.1605T>A (p.His535Gln)
8g.93923502T>CCA462118259PDP1c.1443T>C (p.His481=)
c.1518T>C (p.His506=)
c.1497T>C (p.His499=)
c.1605T>C (p.His535=)
8g.93923502T>GCA371697358PDP1c.1443T>G (p.His481Gln)
c.1518T>G (p.His506Gln)
c.1497T>G (p.His499Gln)
c.1605T>G (p.His535Gln)
8g.93923503C>ACA371697363PDP1c.1444C>A (p.Leu482Ile)
c.1519C>A (p.Leu507Ile)
c.1498C>A (p.Leu500Ile)
c.1606C>A (p.Leu536Ile)
 gnomAD v4
8g.93923503C>GCA371697364PDP1c.1444C>G (p.Leu482Val)
c.1519C>G (p.Leu507Val)
c.1498C>G (p.Leu500Val)
c.1606C>G (p.Leu536Val)
 gnomAD v4
8g.93923503C>TCA371697367PDP1c.1444C>T (p.Leu482Phe)
c.1519C>T (p.Leu507Phe)
c.1498C>T (p.Leu500Phe)
c.1606C>T (p.Leu536Phe)
 ClinVar
8g.93923504T>ACA371697370PDP1c.1445T>A (p.Leu482His)
c.1520T>A (p.Leu507His)
c.1499T>A (p.Leu500His)
c.1607T>A (p.Leu536His)
8g.93923504T>CCA371697373PDP1c.1445T>C (p.Leu482Pro)
c.1520T>C (p.Leu507Pro)
c.1499T>C (p.Leu500Pro)
c.1607T>C (p.Leu536Pro)
8g.93923504T>GCA371697377PDP1c.1445T>G (p.Leu482Arg)
c.1520T>G (p.Leu507Arg)
c.1499T>G (p.Leu500Arg)
c.1607T>G (p.Leu536Arg)
8g.93923505C>ACA4808831PDP1c.1446C>A (p.Leu482=)
c.1521C>A (p.Leu507=)
c.1500C>A (p.Leu500=)
c.1608C>A (p.Leu536=)
 dbSNP ExAC gnomAD v2
8g.93923505C=CA1803280975PDP1c.1446C= (p.Leu482=)
c.1521C= (p.Leu507=)
c.1500C= (p.Leu500=)
c.1608C= (p.Leu536=)
8g.93923505C>GCA462118260PDP1c.1446C>G (p.Leu482=)
c.1521C>G (p.Leu507=)
c.1500C>G (p.Leu500=)
c.1608C>G (p.Leu536=)
 gnomAD v4
8g.93923505C>TCA4808830PDP1c.1446C>T (p.Leu482=)
c.1521C>T (p.Leu507=)
c.1500C>T (p.Leu500=)
c.1608C>T (p.Leu536=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923506A=CA1803280976PDP1c.1447A= (p.Ile483=)
c.1522A= (p.Ile508=)
c.1501A= (p.Ile501=)
c.1609A= (p.Ile537=)
8g.93923506A>CCA371697387PDP1c.1447A>C (p.Ile483Leu)
c.1522A>C (p.Ile508Leu)
c.1501A>C (p.Ile501Leu)
c.1609A>C (p.Ile537Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.93923506A>GCA4808832PDP1c.1447A>G (p.Ile483Val)
c.1522A>G (p.Ile508Val)
c.1501A>G (p.Ile501Val)
c.1609A>G (p.Ile537Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923506A>TCA371697390PDP1c.1447A>T (p.Ile483Phe)
c.1522A>T (p.Ile508Phe)
c.1501A>T (p.Ile501Phe)
c.1609A>T (p.Ile537Phe)
8g.93923507T>ACA371697407PDP1c.1448T>A (p.Ile483Asn)
c.1523T>A (p.Ile508Asn)
c.1502T>A (p.Ile501Asn)
c.1610T>A (p.Ile537Asn)
8g.93923507T>CCA371697399PDP1c.1448T>C (p.Ile483Thr)
c.1523T>C (p.Ile508Thr)
c.1502T>C (p.Ile501Thr)
c.1610T>C (p.Ile537Thr)
8g.93923507T>GCA371697395PDP1c.1448T>G (p.Ile483Ser)
c.1523T>G (p.Ile508Ser)
c.1502T>G (p.Ile501Ser)
c.1610T>G (p.Ile537Ser)
8g.93923508T>ACA462118261PDP1c.1449T>A (p.Ile483=)
c.1524T>A (p.Ile508=)
c.1503T>A (p.Ile501=)
c.1611T>A (p.Ile537=)
8g.93923508T>CCA462118262PDP1c.1449T>C (p.Ile483=)
c.1524T>C (p.Ile508=)
c.1503T>C (p.Ile501=)
c.1611T>C (p.Ile537=)
 dbSNP gnomAD v2 gnomAD v4
8g.93923508T>GCA371697408PDP1c.1449T>G (p.Ile483Met)
c.1524T>G (p.Ile508Met)
c.1503T>G (p.Ile501Met)
c.1611T>G (p.Ile537Met)
8g.93923508T=CA1803280977PDP1c.1449T= (p.Ile483=)
c.1524T= (p.Ile508=)
c.1503T= (p.Ile501=)
c.1611T= (p.Ile537=)
8g.93923509C>ACA371697412PDP1c.1450C>A (p.Arg484Ser)
c.1525C>A (p.Arg509Ser)
c.1504C>A (p.Arg502Ser)
c.1612C>A (p.Arg538Ser)
 gnomAD v4
8g.93923509C=CA1803280978PDP1c.1450C= (p.Arg484=)
c.1525C= (p.Arg509=)
c.1504C= (p.Arg502=)
c.1612C= (p.Arg538=)
8g.93923509C>GCA371697415PDP1c.1450C>G (p.Arg484Gly)
c.1525C>G (p.Arg509Gly)
c.1504C>G (p.Arg502Gly)
c.1612C>G (p.Arg538Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923509C>TCA4808833PDP1c.1450C>T (p.Arg484Cys)
c.1525C>T (p.Arg509Cys)
c.1504C>T (p.Arg502Cys)
c.1612C>T (p.Arg538Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.93923510G>ACA371697423PDP1c.1451G>A (p.Arg484His)
c.1526G>A (p.Arg509His)
c.1505G>A (p.Arg502His)
c.1613G>A (p.Arg538His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.93923510G>CCA371697430PDP1c.1451G>C (p.Arg484Pro)
c.1526G>C (p.Arg509Pro)
c.1505G>C (p.Arg502Pro)
c.1613G>C (p.Arg538Pro)
8g.93923510G=CA1803280979PDP1c.1451G= (p.Arg484=)
c.1526G= (p.Arg509=)
c.1505G= (p.Arg502=)
c.1613G= (p.Arg538=)
8g.93923510G>TCA371697431PDP1c.1451G>T (p.Arg484Leu)
c.1526G>T (p.Arg509Leu)
c.1505G>T (p.Arg502Leu)
c.1613G>T (p.Arg538Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.93923511C>ACA462118263PDP1c.1452C>A (p.Arg484=)
c.1527C>A (p.Arg509=)
c.1506C>A (p.Arg502=)
c.1614C>A (p.Arg538=)
8g.93923511C>GCA462118264PDP1c.1452C>G (p.Arg484=)
c.1527C>G (p.Arg509=)
c.1506C>G (p.Arg502=)
c.1614C>G (p.Arg538=)
8g.93923511C>TCA462118265PDP1c.1452C>T (p.Arg484=)
c.1527C>T (p.Arg509=)
c.1506C>T (p.Arg502=)
c.1614C>T (p.Arg538=)
 gnomAD v4
8g.93923511_93923525delinsCCACGCTGTGGGCAACA1803280980PDP1c.1452_1466delinsCCACGCTGTGGGCAA (p.Arg484=)
c.1527_1541delinsCCACGCTGTGGGCAA (p.Arg509=)
c.1506_1520delinsCCACGCTGTGGGCAA (p.Arg502=)
c.1614_1628delinsCCACGCTGTGGGCAA (p.Arg538=)
8g.93923512C>ACA371697436PDP1c.1453C>A (p.His485Asn)
c.1528C>A (p.His510Asn)
c.1507C>A (p.His503Asn)
c.1615C>A (p.His539Asn)
8g.93923512C>GCA371697439PDP1c.1453C>G (p.His485Asp)
c.1528C>G (p.His510Asp)
c.1507C>G (p.His503Asp)
c.1615C>G (p.His539Asp)
8g.93923512C>TCA371697442PDP1c.1453C>T (p.His485Tyr)
c.1528C>T (p.His510Tyr)
c.1507C>T (p.His503Tyr)
c.1615C>T (p.His539Tyr)
8g.93923514_93923527delCA4808834PDP1c.1455_1468del (p.His485GlnfsTer7)
c.1530_1543del (p.His510GlnfsTer7)
c.1509_1522del (p.His503GlnfsTer7)
c.1617_1630del (p.His539GlnfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923513A>CCA371697448PDP1c.1454A>C (p.His485Pro)
c.1529A>C (p.His510Pro)
c.1508A>C (p.His503Pro)
c.1616A>C (p.His539Pro)
8g.93923513A>GCA371697456PDP1c.1454A>G (p.His485Arg)
c.1529A>G (p.His510Arg)
c.1508A>G (p.His503Arg)
c.1616A>G (p.His539Arg)
 gnomAD v4
8g.93923513A>TCA371697460PDP1c.1454A>T (p.His485Leu)
c.1529A>T (p.His510Leu)
c.1508A>T (p.His503Leu)
c.1616A>T (p.His539Leu)
8g.93923514C>ACA371697465PDP1c.1455C>A (p.His485Gln)
c.1530C>A (p.His510Gln)
c.1509C>A (p.His503Gln)
c.1617C>A (p.His539Gln)
8g.93923514C=CA1803280981PDP1c.1455C= (p.His485=)
c.1530C= (p.His510=)
c.1509C= (p.His503=)
c.1617C= (p.His539=)
8g.93923514C>GCA371697466PDP1c.1455C>G (p.His485Gln)
c.1530C>G (p.His510Gln)
c.1509C>G (p.His503Gln)
c.1617C>G (p.His539Gln)
8g.93923514C>TCA4808835PDP1c.1455C>T (p.His485=)
c.1530C>T (p.His510=)
c.1509C>T (p.His503=)
c.1617C>T (p.His539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923515G>ACA371697467PDP1c.1456G>A (p.Ala486Thr)
c.1531G>A (p.Ala511Thr)
c.1510G>A (p.Ala504Thr)
c.1618G>A (p.Ala540Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.93923515G>CCA371697468PDP1c.1456G>C (p.Ala486Pro)
c.1531G>C (p.Ala511Pro)
c.1510G>C (p.Ala504Pro)
c.1618G>C (p.Ala540Pro)
8g.93923515G=CA1803280982PDP1c.1456G= (p.Ala486=)
c.1531G= (p.Ala511=)
c.1510G= (p.Ala504=)
c.1618G= (p.Ala540=)
8g.93923515G>TCA371697472PDP1c.1456G>T (p.Ala486Ser)
c.1531G>T (p.Ala511Ser)
c.1510G>T (p.Ala504Ser)
c.1618G>T (p.Ala540Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.93923516C>ACA371697475PDP1c.1457C>A (p.Ala486Asp)
c.1532C>A (p.Ala511Asp)
c.1511C>A (p.Ala504Asp)
c.1619C>A (p.Ala540Asp)
8g.93923516C=CA1803280983PDP1c.1457C= (p.Ala486=)
c.1532C= (p.Ala511=)
c.1511C= (p.Ala504=)
c.1619C= (p.Ala540=)
8g.93923516C>GCA181376319PDP1c.1457C>G (p.Ala486Gly)
c.1532C>G (p.Ala511Gly)
c.1511C>G (p.Ala504Gly)
c.1619C>G (p.Ala540Gly)
 dbSNP gnomAD v4
8g.93923516C>TCA371697479PDP1c.1457C>T (p.Ala486Val)
c.1532C>T (p.Ala511Val)
c.1511C>T (p.Ala504Val)
c.1619C>T (p.Ala540Val)
8g.93923517T>ACA462118266PDP1c.1458T>A (p.Ala486=)
c.1533T>A (p.Ala511=)
c.1512T>A (p.Ala504=)
c.1620T>A (p.Ala540=)
 gnomAD v4
8g.93923517T>CCA462118267PDP1c.1458T>C (p.Ala486=)
c.1533T>C (p.Ala511=)
c.1512T>C (p.Ala504=)
c.1620T>C (p.Ala540=)
8g.93923517T>GCA462118268PDP1c.1458T>G (p.Ala486=)
c.1533T>G (p.Ala511=)
c.1512T>G (p.Ala504=)
c.1620T>G (p.Ala540=)
8g.93923518G>ACA371697482PDP1c.1459G>A (p.Val487Met)
c.1534G>A (p.Val512Met)
c.1513G>A (p.Val505Met)
c.1621G>A (p.Val541Met)
8g.93923518G>CCA371697484PDP1c.1459G>C (p.Val487Leu)
c.1534G>C (p.Val512Leu)
c.1513G>C (p.Val505Leu)
c.1621G>C (p.Val541Leu)
8g.93923518G>TCA371697486PDP1c.1459G>T (p.Val487Leu)
c.1534G>T (p.Val512Leu)
c.1513G>T (p.Val505Leu)
c.1621G>T (p.Val541Leu)
8g.93923519T>ACA371697488PDP1c.1460T>A (p.Val487Glu)
c.1535T>A (p.Val512Glu)
c.1514T>A (p.Val505Glu)
c.1622T>A (p.Val541Glu)
8g.93923519T>CCA371697489PDP1c.1460T>C (p.Val487Ala)
c.1535T>C (p.Val512Ala)
c.1514T>C (p.Val505Ala)
c.1622T>C (p.Val541Ala)
8g.93923519T>GCA371697490PDP1c.1460T>G (p.Val487Gly)
c.1535T>G (p.Val512Gly)
c.1514T>G (p.Val505Gly)
c.1622T>G (p.Val541Gly)
8g.93923520G>ACA4808836PDP1c.1461G>A (p.Val487=)
c.1536G>A (p.Val512=)
c.1515G>A (p.Val505=)
c.1623G>A (p.Val541=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923520G>CCA462118269PDP1c.1461G>C (p.Val487=)
c.1536G>C (p.Val512=)
c.1515G>C (p.Val505=)
c.1623G>C (p.Val541=)
8g.93923520G=CA1803280984PDP1c.1461G= (p.Val487=)
c.1536G= (p.Val512=)
c.1515G= (p.Val505=)
c.1623G= (p.Val541=)
8g.93923520G>TCA462118270PDP1c.1461G>T (p.Val487=)
c.1536G>T (p.Val512=)
c.1515G>T (p.Val505=)
c.1623G>T (p.Val541=)
8g.93923521G>ACA371697498PDP1c.1462G>A (p.Gly488Ser)
c.1537G>A (p.Gly513Ser)
c.1516G>A (p.Gly506Ser)
c.1624G>A (p.Gly542Ser)
8g.93923521G>CCA371697494PDP1c.1462G>C (p.Gly488Arg)
c.1537G>C (p.Gly513Arg)
c.1516G>C (p.Gly506Arg)
c.1624G>C (p.Gly542Arg)
8g.93923521G>TCA371697495PDP1c.1462G>T (p.Gly488Cys)
c.1537G>T (p.Gly513Cys)
c.1516G>T (p.Gly506Cys)
c.1624G>T (p.Gly542Cys)
8g.93923522G>ACA371697500PDP1c.1463G>A (p.Gly488Asp)
c.1538G>A (p.Gly513Asp)
c.1517G>A (p.Gly506Asp)
c.1625G>A (p.Gly542Asp)
 dbSNP COSMIC COSMIC
8g.93923522G>CCA371697502PDP1c.1463G>C (p.Gly488Ala)
c.1538G>C (p.Gly513Ala)
c.1517G>C (p.Gly506Ala)
c.1625G>C (p.Gly542Ala)
8g.93923522G>TCA371697510PDP1c.1463G>T (p.Gly488Val)
c.1538G>T (p.Gly513Val)
c.1517G>T (p.Gly506Val)
c.1625G>T (p.Gly542Val)
8g.93923523C>ACA462118273PDP1c.1464C>A (p.Gly488=)
c.1539C>A (p.Gly513=)
c.1518C>A (p.Gly506=)
c.1626C>A (p.Gly542=)
8g.93923523C=CA1803280985PDP1c.1464C= (p.Gly488=)
c.1539C= (p.Gly513=)
c.1518C= (p.Gly506=)
c.1626C= (p.Gly542=)
8g.93923523C>GCA462118271PDP1c.1464C>G (p.Gly488=)
c.1539C>G (p.Gly513=)
c.1518C>G (p.Gly506=)
c.1626C>G (p.Gly542=)
8g.93923523C>TCA462118272PDP1c.1464C>T (p.Gly488=)
c.1539C>T (p.Gly513=)
c.1518C>T (p.Gly506=)
c.1626C>T (p.Gly542=)
 dbSNP gnomAD v4
8g.93923527_93923529delCA2687927876PDP1c.1468_1470del (p.Asn490del)
c.1543_1545del (p.Asn515del)
c.1522_1524del (p.Asn508del)
c.1630_1632del (p.Asn544del)
 gnomAD v4
8g.93923524A>CCA371697512PDP1c.1465A>C (p.Asn489His)
c.1540A>C (p.Asn514His)
c.1519A>C (p.Asn507His)
c.1627A>C (p.Asn543His)
8g.93923524A>GCA371697513PDP1c.1465A>G (p.Asn489Asp)
c.1540A>G (p.Asn514Asp)
c.1519A>G (p.Asn507Asp)
c.1627A>G (p.Asn543Asp)
8g.93923524A>TCA371697514PDP1c.1465A>T (p.Asn489Tyr)
c.1540A>T (p.Asn514Tyr)
c.1519A>T (p.Asn507Tyr)
c.1627A>T (p.Asn543Tyr)
8g.93923524_93923525dupCA2687927877PDP1c.1465_1466dup (p.Asn489LysfsTer?)
c.1540_1541dup (p.Asn514LysfsTer?)
c.1519_1520dup (p.Asn507LysfsTer?)
c.1627_1628dup (p.Asn543LysfsTer?)
 gnomAD v4
8g.93923525A=CA1803280986PDP1c.1466A= (p.Asn489=)
c.1541A= (p.Asn514=)
c.1520A= (p.Asn507=)
c.1628A= (p.Asn543=)
8g.93923525A>CCA371697515PDP1c.1466A>C (p.Asn489Thr)
c.1541A>C (p.Asn514Thr)
c.1520A>C (p.Asn507Thr)
c.1628A>C (p.Asn543Thr)
8g.93923525A>GCA4808837PDP1c.1466A>G (p.Asn489Ser)
c.1541A>G (p.Asn514Ser)
c.1520A>G (p.Asn507Ser)
c.1628A>G (p.Asn543Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.93923525A>TCA371697517PDP1c.1466A>T (p.Asn489Ile)
c.1541A>T (p.Asn514Ile)
c.1520A>T (p.Asn507Ile)
c.1628A>T (p.Asn543Ile)
8g.93923526C>ACA371697519PDP1c.1467C>A (p.Asn489Lys)
c.1542C>A (p.Asn514Lys)
c.1521C>A (p.Asn507Lys)
c.1629C>A (p.Asn543Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.93923526C=CA1803280987PDP1c.1467C= (p.Asn489=)
c.1542C= (p.Asn514=)
c.1521C= (p.Asn507=)
c.1629C= (p.Asn543=)
8g.93923526C>GCA371697520PDP1c.1467C>G (p.Asn489Lys)
c.1542C>G (p.Asn514Lys)
c.1521C>G (p.Asn507Lys)
c.1629C>G (p.Asn543Lys)
8g.93923526C>TCA462118274PDP1c.1467C>T (p.Asn489=)
c.1542C>T (p.Asn514=)
c.1521C>T (p.Asn507=)
c.1629C>T (p.Asn543=)
8g.93923527A>CCA371697523PDP1c.1468A>C (p.Asn490His)
c.1543A>C (p.Asn515His)
c.1522A>C (p.Asn508His)
c.1630A>C (p.Asn544His)
8g.93923527A>GCA371697522PDP1c.1468A>G (p.Asn490Asp)
c.1543A>G (p.Asn515Asp)
c.1522A>G (p.Asn508Asp)
c.1630A>G (p.Asn544Asp)
8g.93923527A>TCA371697521PDP1c.1468A>T (p.Asn490Tyr)
c.1543A>T (p.Asn515Tyr)
c.1522A>T (p.Asn508Tyr)
c.1630A>T (p.Asn544Tyr)
8g.93923528A>CCA371697526PDP1c.1469A>C (p.Asn490Thr)
c.1544A>C (p.Asn515Thr)
c.1523A>C (p.Asn508Thr)
c.1631A>C (p.Asn544Thr)
8g.93923528A>GCA371697533PDP1c.1469A>G (p.Asn490Ser)
c.1544A>G (p.Asn515Ser)
c.1523A>G (p.Asn508Ser)
c.1631A>G (p.Asn544Ser)
8g.93923528A>TCA371697528PDP1c.1469A>T (p.Asn490Ile)
c.1544A>T (p.Asn515Ile)
c.1523A>T (p.Asn508Ile)
c.1631A>T (p.Asn544Ile)
8g.93923529C>ACA371697536PDP1c.1470C>A (p.Asn490Lys)
c.1545C>A (p.Asn515Lys)
c.1524C>A (p.Asn508Lys)
c.1632C>A (p.Asn544Lys)
8g.93923529C=CA1803280988PDP1c.1470C= (p.Asn490=)
c.1545C= (p.Asn515=)
c.1524C= (p.Asn508=)
c.1632C= (p.Asn544=)
8g.93923529C>GCA371697551PDP1c.1470C>G (p.Asn490Lys)
c.1545C>G (p.Asn515Lys)
c.1524C>G (p.Asn508Lys)
c.1632C>G (p.Asn544Lys)
8g.93923529C>TCA4808838PDP1c.1470C>T (p.Asn490=)
c.1545C>T (p.Asn515=)
c.1524C>T (p.Asn508=)
c.1632C>T (p.Asn544=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.93923530G>ACA371697559PDP1c.1471G>A (p.Glu491Lys)
c.1546G>A (p.Glu516Lys)
c.1525G>A (p.Glu509Lys)
c.1633G>A (p.Glu545Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.93923530G>CCA371697563PDP1c.1471G>C (p.Glu491Gln)
c.1546G>C (p.Glu516Gln)
c.1525G>C (p.Glu509Gln)
c.1633G>C (p.Glu545Gln)
8g.93923530G=CA1803280989PDP1c.1471G= (p.Glu491=)
c.1546G= (p.Glu516=)
c.1525G= (p.Glu509=)
c.1633G= (p.Glu545=)
8g.93923530G>TCA371697562PDP1c.1471G>T (p.Glu491Ter)
c.1546G>T (p.Glu516Ter)
c.1525G>T (p.Glu509Ter)
c.1633G>T (p.Glu545Ter)
8g.93923531A>CCA371697564PDP1c.1472A>C (p.Glu491Ala)
c.1547A>C (p.Glu516Ala)
c.1526A>C (p.Glu509Ala)
c.1634A>C (p.Glu545Ala)
8g.93923531A>GCA371697566PDP1c.1472A>G (p.Glu491Gly)
c.1547A>G (p.Glu516Gly)
c.1526A>G (p.Glu509Gly)
c.1634A>G (p.Glu545Gly)
 gnomAD v4
8g.93923531A>TCA371697565PDP1c.1472A>T (p.Glu491Val)
c.1547A>T (p.Glu516Val)
c.1526A>T (p.Glu509Val)
c.1634A>T (p.Glu545Val)
8g.93923532G>ACA462118275PDP1c.1473G>A (p.Glu491=)
c.1548G>A (p.Glu516=)
c.1527G>A (p.Glu509=)
c.1635G>A (p.Glu545=)
8g.93923532G>CCA181376378PDP1c.1473G>C (p.Glu491Asp)
c.1548G>C (p.Glu516Asp)
c.1527G>C (p.Glu509Asp)
c.1635G>C (p.Glu545Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.93923532G=CA1803280990PDP1c.1473G= (p.Glu491=)
c.1548G= (p.Glu516=)
c.1527G= (p.Glu509=)
c.1635G= (p.Glu545=)
8g.93923532G>TCA371697571PDP1c.1473G>T (p.Glu491Asp)
c.1548G>T (p.Glu516Asp)
c.1527G>T (p.Glu509Asp)
c.1635G>T (p.Glu545Asp)
8g.93923533T>ACA371697578PDP1c.1474T>A (p.Phe492Ile)
c.1549T>A (p.Phe517Ile)
c.1528T>A (p.Phe510Ile)
c.1636T>A (p.Phe546Ile)
8g.93923533T>CCA371697580PDP1c.1474T>C (p.Phe492Leu)
c.1549T>C (p.Phe517Leu)
c.1528T>C (p.Phe510Leu)
c.1636T>C (p.Phe546Leu)
8g.93923533T>GCA371697579PDP1c.1474T>G (p.Phe492Val)
c.1549T>G (p.Phe517Val)
c.1528T>G (p.Phe510Val)
c.1636T>G (p.Phe546Val)
8g.93923534T>ACA371697583PDP1c.1475T>A (p.Phe492Tyr)
c.1550T>A (p.Phe517Tyr)
c.1529T>A (p.Phe510Tyr)
c.1637T>A (p.Phe546Tyr)
8g.93923534T>CCA371697585PDP1c.1475T>C (p.Phe492Ser)
c.1550T>C (p.Phe517Ser)
c.1529T>C (p.Phe510Ser)
c.1637T>C (p.Phe546Ser)
 gnomAD v4
8g.93923534T>GCA371697587PDP1c.1475T>G (p.Phe492Cys)
c.1550T>G (p.Phe517Cys)
c.1529T>G (p.Phe510Cys)
c.1637T>G (p.Phe546Cys)
8g.93923535T>ACA371697590PDP1c.1476T>A (p.Phe492Leu)
c.1551T>A (p.Phe517Leu)
c.1530T>A (p.Phe510Leu)
c.1638T>A (p.Phe546Leu)
 dbSNP
8g.93923535T>CCA462118276PDP1c.1476T>C (p.Phe492=)
c.1551T>C (p.Phe517=)
c.1530T>C (p.Phe510=)
c.1638T>C (p.Phe546=)
8g.93923535T>GCA371697605PDP1c.1476T>G (p.Phe492Leu)
c.1551T>G (p.Phe517Leu)
c.1530T>G (p.Phe510Leu)
c.1638T>G (p.Phe546Leu)
8g.93923535T=CA1803280991PDP1c.1476T= (p.Phe492=)
c.1551T= (p.Phe517=)
c.1530T= (p.Phe510=)
c.1638T= (p.Phe546=)
8g.93923536G>ACA371697609PDP1c.1477G>A (p.Gly493Arg)
c.1552G>A (p.Gly518Arg)
c.1531G>A (p.Gly511Arg)
c.1639G>A (p.Gly547Arg)
8g.93923536G>CCA371697610PDP1c.1477G>C (p.Gly493Arg)
c.1552G>C (p.Gly518Arg)
c.1531G>C (p.Gly511Arg)
c.1639G>C (p.Gly547Arg)
8g.93923536G>TCA371697611PDP1c.1477G>T (p.Gly493Trp)
c.1552G>T (p.Gly518Trp)
c.1531G>T (p.Gly511Trp)
c.1639G>T (p.Gly547Trp)

Number of alleles fetched