Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93923428C>A | CA371696825 | PDP1 | c.1369C>A (p.Gln457Lys) c.1444C>A (p.Gln482Lys) c.1423C>A (p.Gln475Lys) c.1531C>A (p.Gln511Lys) | gnomAD v4 |
8 | g.93923428C>G | CA371696828 | PDP1 | c.1369C>G (p.Gln457Glu) c.1444C>G (p.Gln482Glu) c.1423C>G (p.Gln475Glu) c.1531C>G (p.Gln511Glu) | gnomAD v4 |
8 | g.93923428C>T | CA371696829 | PDP1 | c.1369C>T (p.Gln457Ter) c.1444C>T (p.Gln482Ter) c.1423C>T (p.Gln475Ter) c.1531C>T (p.Gln511Ter) | |
8 | g.93923429A>C | CA371696836 | PDP1 | c.1370A>C (p.Gln457Pro) c.1445A>C (p.Gln482Pro) c.1424A>C (p.Gln475Pro) c.1532A>C (p.Gln511Pro) | |
8 | g.93923429A>G | CA371696834 | PDP1 | c.1370A>G (p.Gln457Arg) c.1445A>G (p.Gln482Arg) c.1424A>G (p.Gln475Arg) c.1532A>G (p.Gln511Arg) | |
8 | g.93923429A>T | CA371696832 | PDP1 | c.1370A>T (p.Gln457Leu) c.1445A>T (p.Gln482Leu) c.1424A>T (p.Gln475Leu) c.1532A>T (p.Gln511Leu) | |
8 | g.93923430G>A | CA462118218 | PDP1 | c.1371G>A (p.Gln457=) c.1446G>A (p.Gln482=) c.1425G>A (p.Gln475=) c.1533G>A (p.Gln511=) | |
8 | g.93923430G>C | CA371696839 | PDP1 | c.1371G>C (p.Gln457His) c.1446G>C (p.Gln482His) c.1425G>C (p.Gln475His) c.1533G>C (p.Gln511His) | |
8 | g.93923430G>T | CA371696841 | PDP1 | c.1371G>T (p.Gln457His) c.1446G>T (p.Gln482His) c.1425G>T (p.Gln475His) c.1533G>T (p.Gln511His) | |
8 | g.93923431A= | CA1803280948 | PDP1 | c.1372A= (p.Met458=) c.1447A= (p.Met483=) c.1426A= (p.Met476=) c.1534A= (p.Met512=) | |
8 | g.93923431A>C | CA371696843 | PDP1 | c.1372A>C (p.Met458Leu) c.1447A>C (p.Met483Leu) c.1426A>C (p.Met476Leu) c.1534A>C (p.Met512Leu) | |
8 | g.93923431A>G | CA371696848 | PDP1 | c.1372A>G (p.Met458Val) c.1447A>G (p.Met483Val) c.1426A>G (p.Met476Val) c.1534A>G (p.Met512Val) | |
8 | g.93923431A>T | CA371696850 | PDP1 | c.1372A>T (p.Met458Leu) c.1447A>T (p.Met483Leu) c.1426A>T (p.Met476Leu) c.1534A>T (p.Met512Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923432T>A | CA371696854 | PDP1 | c.1373T>A (p.Met458Lys) c.1448T>A (p.Met483Lys) c.1427T>A (p.Met476Lys) c.1535T>A (p.Met512Lys) | |
8 | g.93923432T>C | CA371696856 | PDP1 | c.1373T>C (p.Met458Thr) c.1448T>C (p.Met483Thr) c.1427T>C (p.Met476Thr) c.1535T>C (p.Met512Thr) | |
8 | g.93923432T>G | CA371696858 | PDP1 | c.1373T>G (p.Met458Arg) c.1448T>G (p.Met483Arg) c.1427T>G (p.Met476Arg) c.1535T>G (p.Met512Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923432T= | CA1803280949 | PDP1 | c.1373T= (p.Met458=) c.1448T= (p.Met483=) c.1427T= (p.Met476=) c.1535T= (p.Met512=) | |
8 | g.93923433G>A | CA371696861 | PDP1 | c.1374G>A (p.Met458Ile) c.1449G>A (p.Met483Ile) c.1428G>A (p.Met476Ile) c.1536G>A (p.Met512Ile) | |
8 | g.93923433G>C | CA371696864 | PDP1 | c.1374G>C (p.Met458Ile) c.1449G>C (p.Met483Ile) c.1428G>C (p.Met476Ile) c.1536G>C (p.Met512Ile) | |
8 | g.93923433G>T | CA371696865 | PDP1 | c.1374G>T (p.Met458Ile) c.1449G>T (p.Met483Ile) c.1428G>T (p.Met476Ile) c.1536G>T (p.Met512Ile) | |
8 | g.93923434C>A | CA371696869 | PDP1 | c.1375C>A (p.His459Asn) c.1450C>A (p.His484Asn) c.1429C>A (p.His477Asn) c.1537C>A (p.His513Asn) | |
8 | g.93923434C= | CA1803280950 | PDP1 | c.1375C= (p.His459=) c.1450C= (p.His484=) c.1429C= (p.His477=) c.1537C= (p.His513=) | |
8 | g.93923434C>G | CA4808817 | PDP1 | c.1375C>G (p.His459Asp) c.1450C>G (p.His484Asp) c.1429C>G (p.His477Asp) c.1537C>G (p.His513Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923434C>T | CA371696871 | PDP1 | c.1375C>T (p.His459Tyr) c.1450C>T (p.His484Tyr) c.1429C>T (p.His477Tyr) c.1537C>T (p.His513Tyr) | |
8 | g.93923435A>C | CA371696877 | PDP1 | c.1376A>C (p.His459Pro) c.1451A>C (p.His484Pro) c.1430A>C (p.His477Pro) c.1538A>C (p.His513Pro) | |
8 | g.93923435A>G | CA371696876 | PDP1 | c.1376A>G (p.His459Arg) c.1451A>G (p.His484Arg) c.1430A>G (p.His477Arg) c.1538A>G (p.His513Arg) | gnomAD v4 |
8 | g.93923435A>T | CA371696874 | PDP1 | c.1376A>T (p.His459Leu) c.1451A>T (p.His484Leu) c.1430A>T (p.His477Leu) c.1538A>T (p.His513Leu) | |
8 | g.93923436T>A | CA371696878 | PDP1 | c.1377T>A (p.His459Gln) c.1452T>A (p.His484Gln) c.1431T>A (p.His477Gln) c.1539T>A (p.His513Gln) | |
8 | g.93923436T>C | CA462118219 | PDP1 | c.1377T>C (p.His459=) c.1452T>C (p.His484=) c.1431T>C (p.His477=) c.1539T>C (p.His513=) | dbSNP |
8 | g.93923436T>G | CA371696879 | PDP1 | c.1377T>G (p.His459Gln) c.1452T>G (p.His484Gln) c.1431T>G (p.His477Gln) c.1539T>G (p.His513Gln) | |
8 | g.93923437G>A | CA371696880 | PDP1 | c.1378G>A (p.Gly460Ser) c.1453G>A (p.Gly485Ser) c.1432G>A (p.Gly478Ser) c.1540G>A (p.Gly514Ser) | gnomAD v4 |
8 | g.93923437G>C | CA371696881 | PDP1 | c.1378G>C (p.Gly460Arg) c.1453G>C (p.Gly485Arg) c.1432G>C (p.Gly478Arg) c.1540G>C (p.Gly514Arg) | |
8 | g.93923437G>T | CA371696882 | PDP1 | c.1378G>T (p.Gly460Cys) c.1453G>T (p.Gly485Cys) c.1432G>T (p.Gly478Cys) c.1540G>T (p.Gly514Cys) | |
8 | g.93923438G>A | CA371696883 | PDP1 | c.1379G>A (p.Gly460Asp) c.1454G>A (p.Gly485Asp) c.1433G>A (p.Gly478Asp) c.1541G>A (p.Gly514Asp) | |
8 | g.93923438G>C | CA371696884 | PDP1 | c.1379G>C (p.Gly460Ala) c.1454G>C (p.Gly485Ala) c.1433G>C (p.Gly478Ala) c.1541G>C (p.Gly514Ala) | gnomAD v4 |
8 | g.93923438G>T | CA371696886 | PDP1 | c.1379G>T (p.Gly460Val) c.1454G>T (p.Gly485Val) c.1433G>T (p.Gly478Val) c.1541G>T (p.Gly514Val) | gnomAD v4 |
8 | g.93923438_93923445delinsGCCTTTTA | CA1803280951 | PDP1 | c.1379_1386delinsGCCTTTTA (p.Gly460=) c.1454_1461delinsGCCTTTTA (p.Gly485=) c.1433_1440delinsGCCTTTTA (p.Gly478=) c.1541_1548delinsGCCTTTTA (p.Gly514=) | |
8 | g.93923439C>A | CA462118220 | PDP1 | c.1380C>A (p.Gly460=) c.1455C>A (p.Gly485=) c.1434C>A (p.Gly478=) c.1542C>A (p.Gly514=) | |
8 | g.93923439C>G | CA462118221 | PDP1 | c.1380C>G (p.Gly460=) c.1455C>G (p.Gly485=) c.1434C>G (p.Gly478=) c.1542C>G (p.Gly514=) | |
8 | g.93923439C>T | CA462118222 | PDP1 | c.1380C>T (p.Gly460=) c.1455C>T (p.Gly485=) c.1434C>T (p.Gly478=) c.1542C>T (p.Gly514=) | |
8 | g.93923439_93923445del | CA4808818 | PDP1 | c.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 |
8 | g.93923440C>A | CA371696889 | PDP1 | c.1381C>A (p.Leu461Ile) c.1456C>A (p.Leu486Ile) c.1435C>A (p.Leu479Ile) c.1543C>A (p.Leu515Ile) | |
8 | g.93923440C= | CA1803280952 | PDP1 | c.1381C= (p.Leu461=) c.1456C= (p.Leu486=) c.1435C= (p.Leu479=) c.1543C= (p.Leu515=) | |
8 | g.93923440C>G | CA371696892 | PDP1 | c.1381C>G (p.Leu461Val) c.1456C>G (p.Leu486Val) c.1435C>G (p.Leu479Val) c.1543C>G (p.Leu515Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923440C>T | CA371696894 | PDP1 | c.1381C>T (p.Leu461Phe) c.1456C>T (p.Leu486Phe) c.1435C>T (p.Leu479Phe) c.1543C>T (p.Leu515Phe) | gnomAD v4 |
8 | g.93923441T>A | CA371696900 | PDP1 | c.1382T>A (p.Leu461His) c.1457T>A (p.Leu486His) c.1436T>A (p.Leu479His) c.1544T>A (p.Leu515His) | |
8 | g.93923441T>C | CA371696899 | PDP1 | c.1382T>C (p.Leu461Pro) c.1457T>C (p.Leu486Pro) c.1436T>C (p.Leu479Pro) c.1544T>C (p.Leu515Pro) | |
8 | g.93923441T>G | CA371696896 | PDP1 | c.1382T>G (p.Leu461Arg) c.1457T>G (p.Leu486Arg) c.1436T>G (p.Leu479Arg) c.1544T>G (p.Leu515Arg) | |
8 | g.93923442T>A | CA462118223 | PDP1 | c.1383T>A (p.Leu461=) c.1458T>A (p.Leu486=) c.1437T>A (p.Leu479=) c.1545T>A (p.Leu515=) | |
8 | g.93923442T>C | CA462118224 | PDP1 | c.1383T>C (p.Leu461=) c.1458T>C (p.Leu486=) c.1437T>C (p.Leu479=) c.1545T>C (p.Leu515=) | |
8 | g.93923442T>G | CA462118225 | PDP1 | c.1383T>G (p.Leu461=) c.1458T>G (p.Leu486=) c.1437T>G (p.Leu479=) c.1545T>G (p.Leu515=) | |
8 | g.93923443T>A | CA371696903 | PDP1 | c.1384T>A (p.Leu462Ile) c.1459T>A (p.Leu487Ile) c.1438T>A (p.Leu480Ile) c.1546T>A (p.Leu516Ile) | |
8 | g.93923443T>C | CA462118226 | PDP1 | c.1384T>C (p.Leu462=) c.1459T>C (p.Leu487=) c.1438T>C (p.Leu480=) c.1546T>C (p.Leu516=) | |
8 | g.93923443T>G | CA371696905 | PDP1 | c.1384T>G (p.Leu462Val) c.1459T>G (p.Leu487Val) c.1438T>G (p.Leu480Val) c.1546T>G (p.Leu516Val) | |
8 | g.93923444T>A | CA371696912 | PDP1 | c.1385T>A (p.Leu462Ter) c.1460T>A (p.Leu487Ter) c.1439T>A (p.Leu480Ter) c.1547T>A (p.Leu516Ter) | |
8 | g.93923444T>C | CA371696914 | PDP1 | c.1385T>C (p.Leu462Ser) c.1460T>C (p.Leu487Ser) c.1439T>C (p.Leu480Ser) c.1547T>C (p.Leu516Ser) | |
8 | g.93923444T>G | CA371696916 | PDP1 | c.1385T>G (p.Leu462Ter) c.1460T>G (p.Leu487Ter) c.1439T>G (p.Leu480Ter) c.1547T>G (p.Leu516Ter) | |
8 | g.93923445A>C | CA371696920 | PDP1 | c.1386A>C (p.Leu462Phe) c.1461A>C (p.Leu487Phe) c.1440A>C (p.Leu480Phe) c.1548A>C (p.Leu516Phe) | |
8 | g.93923445A>G | CA462118227 | PDP1 | c.1386A>G (p.Leu462=) c.1461A>G (p.Leu487=) c.1440A>G (p.Leu480=) c.1548A>G (p.Leu516=) | |
8 | g.93923445A>T | CA371696921 | PDP1 | c.1386A>T (p.Leu462Phe) c.1461A>T (p.Leu487Phe) c.1440A>T (p.Leu480Phe) c.1548A>T (p.Leu516Phe) | |
8 | g.93923446A>C | CA371696924 | PDP1 | c.1387A>C (p.Thr463Pro) c.1462A>C (p.Thr488Pro) c.1441A>C (p.Thr481Pro) c.1549A>C (p.Thr517Pro) | |
8 | g.93923446A>G | CA371696925 | PDP1 | c.1387A>G (p.Thr463Ala) c.1462A>G (p.Thr488Ala) c.1441A>G (p.Thr481Ala) c.1549A>G (p.Thr517Ala) | gnomAD v4 |
8 | g.93923446A>T | CA371696929 | PDP1 | c.1387A>T (p.Thr463Ser) c.1462A>T (p.Thr488Ser) c.1441A>T (p.Thr481Ser) c.1549A>T (p.Thr517Ser) | |
8 | g.93923447C>A | CA371696933 | PDP1 | c.1388C>A (p.Thr463Lys) c.1463C>A (p.Thr488Lys) c.1442C>A (p.Thr481Lys) c.1550C>A (p.Thr517Lys) | |
8 | g.93923447C>G | CA371696935 | PDP1 | c.1388C>G (p.Thr463Arg) c.1463C>G (p.Thr488Arg) c.1442C>G (p.Thr481Arg) c.1550C>G (p.Thr517Arg) | |
8 | g.93923447C>T | CA371696936 | PDP1 | c.1388C>T (p.Thr463Ile) c.1463C>T (p.Thr488Ile) c.1442C>T (p.Thr481Ile) c.1550C>T (p.Thr517Ile) | |
8 | g.93923448A>C | CA462118228 | PDP1 | c.1389A>C (p.Thr463=) c.1464A>C (p.Thr488=) c.1443A>C (p.Thr481=) c.1551A>C (p.Thr517=) | gnomAD v4 |
8 | g.93923448A>G | CA462118229 | PDP1 | c.1389A>G (p.Thr463=) c.1464A>G (p.Thr488=) c.1443A>G (p.Thr481=) c.1551A>G (p.Thr517=) | |
8 | g.93923448A>T | CA462118230 | PDP1 | c.1389A>T (p.Thr463=) c.1464A>T (p.Thr488=) c.1443A>T (p.Thr481=) c.1551A>T (p.Thr517=) | |
8 | g.93923449G>A | CA371696940 | PDP1 | c.1390G>A (p.Glu464Lys) c.1465G>A (p.Glu489Lys) c.1444G>A (p.Glu482Lys) c.1552G>A (p.Glu518Lys) | |
8 | g.93923449G>C | CA371696941 | PDP1 | c.1390G>C (p.Glu464Gln) c.1465G>C (p.Glu489Gln) c.1444G>C (p.Glu482Gln) c.1552G>C (p.Glu518Gln) | |
8 | g.93923449G>T | CA371696939 | PDP1 | c.1390G>T (p.Glu464Ter) c.1465G>T (p.Glu489Ter) c.1444G>T (p.Glu482Ter) c.1552G>T (p.Glu518Ter) | |
8 | g.93923450A= | CA1803280953 | PDP1 | c.1391A= (p.Glu464=) c.1466A= (p.Glu489=) c.1445A= (p.Glu482=) c.1553A= (p.Glu518=) | |
8 | g.93923450A>C | CA371696942 | PDP1 | c.1391A>C (p.Glu464Ala) c.1466A>C (p.Glu489Ala) c.1445A>C (p.Glu482Ala) c.1553A>C (p.Glu518Ala) | |
8 | g.93923450A>G | CA371696943 | PDP1 | c.1391A>G (p.Glu464Gly) c.1466A>G (p.Glu489Gly) c.1445A>G (p.Glu482Gly) c.1553A>G (p.Glu518Gly) | gnomAD v4 |
8 | g.93923450A>T | CA371696944 | PDP1 | c.1391A>T (p.Glu464Val) c.1466A>T (p.Glu489Val) c.1445A>T (p.Glu482Val) c.1553A>T (p.Glu518Val) | dbSNP gnomAD v4 |
8 | g.93923451A= | CA1803280954 | PDP1 | c.1392A= (p.Glu464=) c.1467A= (p.Glu489=) c.1446A= (p.Glu482=) c.1554A= (p.Glu518=) | |
8 | g.93923451A>C | CA371696945 | PDP1 | c.1392A>C (p.Glu464Asp) c.1467A>C (p.Glu489Asp) c.1446A>C (p.Glu482Asp) c.1554A>C (p.Glu518Asp) | dbSNP gnomAD v4 |
8 | g.93923451A>G | CA462118231 | PDP1 | c.1392A>G (p.Glu464=) c.1467A>G (p.Glu489=) c.1446A>G (p.Glu482=) c.1554A>G (p.Glu518=) | |
8 | g.93923451A>T | CA371696946 | PDP1 | c.1392A>T (p.Glu464Asp) c.1467A>T (p.Glu489Asp) c.1446A>T (p.Glu482Asp) c.1554A>T (p.Glu518Asp) | |
8 | g.93923452A= | CA1803280955 | PDP1 | c.1393A= (p.Arg465=) c.1468A= (p.Arg490=) c.1447A= (p.Arg483=) c.1555A= (p.Arg519=) | |
8 | g.93923452A>C | CA462118232 | PDP1 | c.1393A>C (p.Arg465=) c.1468A>C (p.Arg490=) c.1447A>C (p.Arg483=) c.1555A>C (p.Arg519=) | |
8 | g.93923452A>G | CA4808819 | PDP1 | c.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 |
8 | g.93923452A>T | CA371696950 | PDP1 | c.1393A>T (p.Arg465Trp) c.1468A>T (p.Arg490Trp) c.1447A>T (p.Arg483Trp) c.1555A>T (p.Arg519Trp) | |
8 | g.93923454_93923456del | CA2687927874 | PDP1 | c.1395_1397del (p.Arg466del) c.1470_1472del (p.Arg491del) c.1449_1451del (p.Arg484del) c.1557_1559del (p.Arg520del) | gnomAD v4 |
8 | g.93923453G>A | CA371696953 | PDP1 | c.1394G>A (p.Arg465Lys) c.1469G>A (p.Arg490Lys) c.1448G>A (p.Arg483Lys) c.1556G>A (p.Arg519Lys) | |
8 | g.93923453G>C | CA371696958 | PDP1 | c.1394G>C (p.Arg465Thr) c.1469G>C (p.Arg490Thr) c.1448G>C (p.Arg483Thr) c.1556G>C (p.Arg519Thr) | |
8 | g.93923453G>T | CA371696955 | PDP1 | c.1394G>T (p.Arg465Met) c.1469G>T (p.Arg490Met) c.1448G>T (p.Arg483Met) c.1556G>T (p.Arg519Met) | |
8 | g.93923454G>A | CA462118233 | PDP1 | c.1395G>A (p.Arg465=) c.1470G>A (p.Arg490=) c.1449G>A (p.Arg483=) c.1557G>A (p.Arg519=) | |
8 | g.93923454G>C | CA371696965 | PDP1 | c.1395G>C (p.Arg465Ser) c.1470G>C (p.Arg490Ser) c.1449G>C (p.Arg483Ser) c.1557G>C (p.Arg519Ser) | |
8 | g.93923454G>T | CA371696966 | PDP1 | c.1395G>T (p.Arg465Ser) c.1470G>T (p.Arg490Ser) c.1449G>T (p.Arg483Ser) c.1557G>T (p.Arg519Ser) | COSMIC COSMIC |
8 | g.93923455A>C | CA462118234 | PDP1 | c.1396A>C (p.Arg466=) c.1471A>C (p.Arg491=) c.1450A>C (p.Arg484=) c.1558A>C (p.Arg520=) | |
8 | g.93923455A>G | CA371696968 | PDP1 | c.1396A>G (p.Arg466Gly) c.1471A>G (p.Arg491Gly) c.1450A>G (p.Arg484Gly) c.1558A>G (p.Arg520Gly) | |
8 | g.93923455A>T | CA371696971 | PDP1 | c.1396A>T (p.Arg466Ter) c.1471A>T (p.Arg491Ter) c.1450A>T (p.Arg484Ter) c.1558A>T (p.Arg520Ter) | |
8 | g.93923456G>A | CA371696980 | PDP1 | c.1397G>A (p.Arg466Lys) c.1472G>A (p.Arg491Lys) c.1451G>A (p.Arg484Lys) c.1559G>A (p.Arg520Lys) | |
8 | g.93923456G>C | CA371696974 | PDP1 | c.1397G>C (p.Arg466Thr) c.1472G>C (p.Arg491Thr) c.1451G>C (p.Arg484Thr) c.1559G>C (p.Arg520Thr) | |
8 | g.93923456G>T | CA371696978 | PDP1 | c.1397G>T (p.Arg466Ile) c.1472G>T (p.Arg491Ile) c.1451G>T (p.Arg484Ile) c.1559G>T (p.Arg520Ile) | gnomAD v4 |
8 | g.93923457A= | CA1803280956 | PDP1 | c.1398A= (p.Arg466=) c.1473A= (p.Arg491=) c.1452A= (p.Arg484=) c.1560A= (p.Arg520=) | |
8 | g.93923457A>C | CA371696983 | PDP1 | c.1398A>C (p.Arg466Ser) c.1473A>C (p.Arg491Ser) c.1452A>C (p.Arg484Ser) c.1560A>C (p.Arg520Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923457A>G | CA4808820 | PDP1 | c.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 |
8 | g.93923457A>T | CA371696989 | PDP1 | c.1398A>T (p.Arg466Ser) c.1473A>T (p.Arg491Ser) c.1452A>T (p.Arg484Ser) c.1560A>T (p.Arg520Ser) | |
8 | g.93923458A>C | CA371696993 | PDP1 | c.1399A>C (p.Thr467Pro) c.1474A>C (p.Thr492Pro) c.1453A>C (p.Thr485Pro) c.1561A>C (p.Thr521Pro) | |
8 | g.93923458A>G | CA371696998 | PDP1 | c.1399A>G (p.Thr467Ala) c.1474A>G (p.Thr492Ala) c.1453A>G (p.Thr485Ala) c.1561A>G (p.Thr521Ala) | gnomAD v4 |
8 | g.93923458A>T | CA371697001 | PDP1 | c.1399A>T (p.Thr467Ser) c.1474A>T (p.Thr492Ser) c.1453A>T (p.Thr485Ser) c.1561A>T (p.Thr521Ser) | |
8 | g.93923458_93923459delinsAC | CA1803280957 | PDP1 | c.1399_1400delinsAC (p.Thr467=) c.1474_1475delinsAC (p.Thr492=) c.1453_1454delinsAC (p.Thr485=) c.1561_1562delinsAC (p.Thr521=) | |
8 | g.93923459C>A | CA371697005 | PDP1 | c.1400C>A (p.Thr467Asn) c.1475C>A (p.Thr492Asn) c.1454C>A (p.Thr485Asn) c.1562C>A (p.Thr521Asn) | |
8 | g.93923459C= | CA1803280958 | PDP1 | c.1400C= (p.Thr467=) c.1475C= (p.Thr492=) c.1454C= (p.Thr485=) c.1562C= (p.Thr521=) | |
8 | g.93923459C>G | CA4808821 | PDP1 | c.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 |
8 | g.93923459C>T | CA371697013 | PDP1 | c.1400C>T (p.Thr467Ile) c.1475C>T (p.Thr492Ile) c.1454C>T (p.Thr485Ile) c.1562C>T (p.Thr521Ile) | |
8 | g.93923460del | CA857071939 | PDP1 | c.1401del (p.Met469CysfsTer?) c.1476del (p.Met494CysfsTer?) c.1455del (p.Met487CysfsTer?) c.1563del (p.Met523CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923460C>A | CA462118235 | PDP1 | c.1401C>A (p.Thr467=) c.1476C>A (p.Thr492=) c.1455C>A (p.Thr485=) c.1563C>A (p.Thr521=) | |
8 | g.93923460C>G | CA462118237 | PDP1 | c.1401C>G (p.Thr467=) c.1476C>G (p.Thr492=) c.1455C>G (p.Thr485=) c.1563C>G (p.Thr521=) | gnomAD v4 |
8 | g.93923460C>T | CA462118236 | PDP1 | c.1401C>T (p.Thr467=) c.1476C>T (p.Thr492=) c.1455C>T (p.Thr485=) c.1563C>T (p.Thr521=) | |
8 | g.93923461A= | CA1803280959 | PDP1 | c.1402A= (p.Lys468=) c.1477A= (p.Lys493=) c.1456A= (p.Lys486=) c.1564A= (p.Lys522=) | |
8 | g.93923461A>C | CA371697017 | PDP1 | c.1402A>C (p.Lys468Gln) c.1477A>C (p.Lys493Gln) c.1456A>C (p.Lys486Gln) c.1564A>C (p.Lys522Gln) | |
8 | g.93923461A>G | CA4808822 | PDP1 | c.1402A>G (p.Lys468Glu) c.1477A>G (p.Lys493Glu) c.1456A>G (p.Lys486Glu) c.1564A>G (p.Lys522Glu) | dbSNP ExAC gnomAD v2 |
8 | g.93923461A>T | CA371697024 | PDP1 | c.1402A>T (p.Lys468Ter) c.1477A>T (p.Lys493Ter) c.1456A>T (p.Lys486Ter) c.1564A>T (p.Lys522Ter) | |
8 | g.93923462A>C | CA371697027 | PDP1 | c.1403A>C (p.Lys468Thr) c.1478A>C (p.Lys493Thr) c.1457A>C (p.Lys486Thr) c.1565A>C (p.Lys522Thr) | |
8 | g.93923462A>G | CA371697032 | PDP1 | c.1403A>G (p.Lys468Arg) c.1478A>G (p.Lys493Arg) c.1457A>G (p.Lys486Arg) c.1565A>G (p.Lys522Arg) | |
8 | g.93923462A>T | CA371697031 | PDP1 | c.1403A>T (p.Lys468Ile) c.1478A>T (p.Lys493Ile) c.1457A>T (p.Lys486Ile) c.1565A>T (p.Lys522Ile) | |
8 | g.93923463A>C | CA371697034 | PDP1 | c.1404A>C (p.Lys468Asn) c.1479A>C (p.Lys493Asn) c.1458A>C (p.Lys486Asn) c.1566A>C (p.Lys522Asn) | |
8 | g.93923463A>G | CA462118238 | PDP1 | c.1404A>G (p.Lys468=) c.1479A>G (p.Lys493=) c.1458A>G (p.Lys486=) c.1566A>G (p.Lys522=) | |
8 | g.93923463A>T | CA371697037 | PDP1 | c.1404A>T (p.Lys468Asn) c.1479A>T (p.Lys493Asn) c.1458A>T (p.Lys486Asn) c.1566A>T (p.Lys522Asn) | |
8 | g.93923464A>C | CA371697040 | PDP1 | c.1405A>C (p.Met469Leu) c.1480A>C (p.Met494Leu) c.1459A>C (p.Met487Leu) c.1567A>C (p.Met523Leu) | |
8 | g.93923464A>G | CA371697041 | PDP1 | c.1405A>G (p.Met469Val) c.1480A>G (p.Met494Val) c.1459A>G (p.Met487Val) c.1567A>G (p.Met523Val) | |
8 | g.93923464A>T | CA371697042 | PDP1 | c.1405A>T (p.Met469Leu) c.1480A>T (p.Met494Leu) c.1459A>T (p.Met487Leu) c.1567A>T (p.Met523Leu) | |
8 | g.93923465T>A | CA371697043 | PDP1 | c.1406T>A (p.Met469Lys) c.1481T>A (p.Met494Lys) c.1460T>A (p.Met487Lys) c.1568T>A (p.Met523Lys) | |
8 | g.93923465T>C | CA371697044 | PDP1 | c.1406T>C (p.Met469Thr) c.1481T>C (p.Met494Thr) c.1460T>C (p.Met487Thr) c.1568T>C (p.Met523Thr) | |
8 | g.93923465T>G | CA371697045 | PDP1 | c.1406T>G (p.Met469Arg) c.1481T>G (p.Met494Arg) c.1460T>G (p.Met487Arg) c.1568T>G (p.Met523Arg) | |
8 | g.93923466G>A | CA371697047 | PDP1 | c.1407G>A (p.Met469Ile) c.1482G>A (p.Met494Ile) c.1461G>A (p.Met487Ile) c.1569G>A (p.Met523Ile) | dbSNP gnomAD v4 |
8 | g.93923466G>C | CA371697050 | PDP1 | c.1407G>C (p.Met469Ile) c.1482G>C (p.Met494Ile) c.1461G>C (p.Met487Ile) c.1569G>C (p.Met523Ile) | |
8 | g.93923466G= | CA1803280960 | PDP1 | c.1407G= (p.Met469=) c.1482G= (p.Met494=) c.1461G= (p.Met487=) c.1569G= (p.Met523=) | |
8 | g.93923466G>T | CA371697052 | PDP1 | c.1407G>T (p.Met469Ile) c.1482G>T (p.Met494Ile) c.1461G>T (p.Met487Ile) c.1569G>T (p.Met523Ile) | |
8 | g.93923467T>A | CA371697060 | PDP1 | c.1408T>A (p.Ser470Thr) c.1483T>A (p.Ser495Thr) c.1462T>A (p.Ser488Thr) c.1570T>A (p.Ser524Thr) | |
8 | g.93923467T>C | CA181376233 | PDP1 | c.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 |
8 | g.93923467T>G | CA371697055 | PDP1 | c.1408T>G (p.Ser470Ala) c.1483T>G (p.Ser495Ala) c.1462T>G (p.Ser488Ala) c.1570T>G (p.Ser524Ala) | |
8 | g.93923467T= | CA1803280961 | PDP1 | c.1408T= (p.Ser470=) c.1483T= (p.Ser495=) c.1462T= (p.Ser488=) c.1570T= (p.Ser524=) | |
8 | g.93923468C>A | CA371697063 | PDP1 | c.1409C>A (p.Ser470Tyr) c.1484C>A (p.Ser495Tyr) c.1463C>A (p.Ser488Tyr) c.1571C>A (p.Ser524Tyr) | |
8 | g.93923468C= | CA1803280962 | PDP1 | c.1409C= (p.Ser470=) c.1484C= (p.Ser495=) c.1463C= (p.Ser488=) c.1571C= (p.Ser524=) | |
8 | g.93923468C>G | CA371697065 | PDP1 | c.1409C>G (p.Ser470Cys) c.1484C>G (p.Ser495Cys) c.1463C>G (p.Ser488Cys) c.1571C>G (p.Ser524Cys) | |
8 | g.93923468C>T | CA371697069 | PDP1 | c.1409C>T (p.Ser470Phe) c.1484C>T (p.Ser495Phe) c.1463C>T (p.Ser488Phe) c.1571C>T (p.Ser524Phe) | dbSNP |
8 | g.93923469C>A | CA462118239 | PDP1 | c.1410C>A (p.Ser470=) c.1485C>A (p.Ser495=) c.1464C>A (p.Ser488=) c.1572C>A (p.Ser524=) | |
8 | g.93923469C>G | CA462118240 | PDP1 | c.1410C>G (p.Ser470=) c.1485C>G (p.Ser495=) c.1464C>G (p.Ser488=) c.1572C>G (p.Ser524=) | |
8 | g.93923469C>T | CA462118241 | PDP1 | c.1410C>T (p.Ser470=) c.1485C>T (p.Ser495=) c.1464C>T (p.Ser488=) c.1572C>T (p.Ser524=) | gnomAD v4 |
8 | g.93923470T>A | CA371697072 | PDP1 | c.1411T>A (p.Ser471Thr) c.1486T>A (p.Ser496Thr) c.1465T>A (p.Ser489Thr) c.1573T>A (p.Ser525Thr) | |
8 | g.93923470T>C | CA371697073 | PDP1 | c.1411T>C (p.Ser471Pro) c.1486T>C (p.Ser496Pro) c.1465T>C (p.Ser489Pro) c.1573T>C (p.Ser525Pro) | |
8 | g.93923470T>G | CA371697074 | PDP1 | c.1411T>G (p.Ser471Ala) c.1486T>G (p.Ser496Ala) c.1465T>G (p.Ser489Ala) c.1573T>G (p.Ser525Ala) | |
8 | g.93923471C>A | CA371697075 | PDP1 | c.1412C>A (p.Ser471Ter) c.1487C>A (p.Ser496Ter) c.1466C>A (p.Ser489Ter) c.1574C>A (p.Ser525Ter) | |
8 | g.93923471C= | CA1803280963 | PDP1 | c.1412C= (p.Ser471=) c.1487C= (p.Ser496=) c.1466C= (p.Ser489=) c.1574C= (p.Ser525=) | |
8 | g.93923471C>G | CA371697076 | PDP1 | c.1412C>G (p.Ser471Trp) c.1487C>G (p.Ser496Trp) c.1466C>G (p.Ser489Trp) c.1574C>G (p.Ser525Trp) | |
8 | g.93923471C>T | CA181376239 | PDP1 | c.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 |
8 | g.93923472G>A | CA4808823 | PDP1 | c.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 |
8 | g.93923472G>C | CA462118242 | PDP1 | c.1413G>C (p.Ser471=) c.1488G>C (p.Ser496=) c.1467G>C (p.Ser489=) c.1575G>C (p.Ser525=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923472G= | CA1803280964 | PDP1 | c.1413G= (p.Ser471=) c.1488G= (p.Ser496=) c.1467G= (p.Ser489=) c.1575G= (p.Ser525=) | |
8 | g.93923472G>T | CA462118243 | PDP1 | c.1413G>T (p.Ser471=) c.1488G>T (p.Ser496=) c.1467G>T (p.Ser489=) c.1575G>T (p.Ser525=) | |
8 | g.93923473G>A | CA371697081 | PDP1 | c.1414G>A (p.Val472Ile) c.1489G>A (p.Val497Ile) c.1468G>A (p.Val490Ile) c.1576G>A (p.Val526Ile) | |
8 | g.93923473G>C | CA371697083 | PDP1 | c.1414G>C (p.Val472Leu) c.1489G>C (p.Val497Leu) c.1468G>C (p.Val490Leu) c.1576G>C (p.Val526Leu) | |
8 | g.93923473G>T | CA371697084 | PDP1 | c.1414G>T (p.Val472Leu) c.1489G>T (p.Val497Leu) c.1468G>T (p.Val490Leu) c.1576G>T (p.Val526Leu) | |
8 | g.93923474T>A | CA371697093 | PDP1 | c.1415T>A (p.Val472Glu) c.1490T>A (p.Val497Glu) c.1469T>A (p.Val490Glu) c.1577T>A (p.Val526Glu) | |
8 | g.93923474T>C | CA371697097 | PDP1 | c.1415T>C (p.Val472Ala) c.1490T>C (p.Val497Ala) c.1469T>C (p.Val490Ala) c.1577T>C (p.Val526Ala) | |
8 | g.93923474T>G | CA371697090 | PDP1 | c.1415T>G (p.Val472Gly) c.1490T>G (p.Val497Gly) c.1469T>G (p.Val490Gly) c.1577T>G (p.Val526Gly) | dbSNP |
8 | g.93923474T= | CA1803280965 | PDP1 | c.1415T= (p.Val472=) c.1490T= (p.Val497=) c.1469T= (p.Val490=) c.1577T= (p.Val526=) | |
8 | g.93923475A= | CA1803280966 | PDP1 | c.1416A= (p.Val472=) c.1491A= (p.Val497=) c.1470A= (p.Val490=) c.1578A= (p.Val526=) | |
8 | g.93923475A>C | CA462118244 | PDP1 | c.1416A>C (p.Val472=) c.1491A>C (p.Val497=) c.1470A>C (p.Val490=) c.1578A>C (p.Val526=) | |
8 | g.93923475A>G | CA462118245 | PDP1 | c.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 |
8 | g.93923475A>T | CA462118246 | PDP1 | c.1416A>T (p.Val472=) c.1491A>T (p.Val497=) c.1470A>T (p.Val490=) c.1578A>T (p.Val526=) | |
8 | g.93923476T>A | CA371697109 | PDP1 | c.1417T>A (p.Phe473Ile) c.1492T>A (p.Phe498Ile) c.1471T>A (p.Phe491Ile) c.1579T>A (p.Phe527Ile) | |
8 | g.93923476T>C | CA4808824 | PDP1 | c.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 |
8 | g.93923476T>G | CA371697107 | PDP1 | c.1417T>G (p.Phe473Val) c.1492T>G (p.Phe498Val) c.1471T>G (p.Phe491Val) c.1579T>G (p.Phe527Val) | gnomAD v4 |
8 | g.93923476T= | CA1803280967 | PDP1 | c.1417T= (p.Phe473=) c.1492T= (p.Phe498=) c.1471T= (p.Phe491=) c.1579T= (p.Phe527=) | |
8 | g.93923477T>A | CA371697113 | PDP1 | c.1418T>A (p.Phe473Tyr) c.1493T>A (p.Phe498Tyr) c.1472T>A (p.Phe491Tyr) c.1580T>A (p.Phe527Tyr) | |
8 | g.93923477T>C | CA371697116 | PDP1 | c.1418T>C (p.Phe473Ser) c.1493T>C (p.Phe498Ser) c.1472T>C (p.Phe491Ser) c.1580T>C (p.Phe527Ser) | |
8 | g.93923477T>G | CA371697120 | PDP1 | c.1418T>G (p.Phe473Cys) c.1493T>G (p.Phe498Cys) c.1472T>G (p.Phe491Cys) c.1580T>G (p.Phe527Cys) | |
8 | g.93923478T>A | CA371697125 | PDP1 | c.1419T>A (p.Phe473Leu) c.1494T>A (p.Phe498Leu) c.1473T>A (p.Phe491Leu) c.1581T>A (p.Phe527Leu) | |
8 | g.93923478T>C | CA462118247 | PDP1 | c.1419T>C (p.Phe473=) c.1494T>C (p.Phe498=) c.1473T>C (p.Phe491=) c.1581T>C (p.Phe527=) | |
8 | g.93923478T>G | CA371697130 | PDP1 | c.1419T>G (p.Phe473Leu) c.1494T>G (p.Phe498Leu) c.1473T>G (p.Phe491Leu) c.1581T>G (p.Phe527Leu) | |
8 | g.93923479G>A | CA371697137 | PDP1 | c.1420G>A (p.Glu474Lys) c.1495G>A (p.Glu499Lys) c.1474G>A (p.Glu492Lys) c.1582G>A (p.Glu528Lys) | |
8 | g.93923479G>C | CA371697141 | PDP1 | c.1420G>C (p.Glu474Gln) c.1495G>C (p.Glu499Gln) c.1474G>C (p.Glu492Gln) c.1582G>C (p.Glu528Gln) | |
8 | g.93923479G>T | CA371697153 | PDP1 | c.1420G>T (p.Glu474Ter) c.1495G>T (p.Glu499Ter) c.1474G>T (p.Glu492Ter) c.1582G>T (p.Glu528Ter) | gnomAD v4 |
8 | g.93923480A>C | CA371697156 | PDP1 | c.1421A>C (p.Glu474Ala) c.1496A>C (p.Glu499Ala) c.1475A>C (p.Glu492Ala) c.1583A>C (p.Glu528Ala) | |
8 | g.93923480A>G | CA371697159 | PDP1 | c.1421A>G (p.Glu474Gly) c.1496A>G (p.Glu499Gly) c.1475A>G (p.Glu492Gly) c.1583A>G (p.Glu528Gly) | gnomAD v4 |
8 | g.93923480A>T | CA371697162 | PDP1 | c.1421A>T (p.Glu474Val) c.1496A>T (p.Glu499Val) c.1475A>T (p.Glu492Val) c.1583A>T (p.Glu528Val) | |
8 | g.93923481G>A | CA462118248 | PDP1 | c.1422G>A (p.Glu474=) c.1497G>A (p.Glu499=) c.1476G>A (p.Glu492=) c.1584G>A (p.Glu528=) | gnomAD v4 |
8 | g.93923481G>C | CA371697168 | PDP1 | c.1422G>C (p.Glu474Asp) c.1497G>C (p.Glu499Asp) c.1476G>C (p.Glu492Asp) c.1584G>C (p.Glu528Asp) | |
8 | g.93923481G>T | CA371697165 | PDP1 | c.1422G>T (p.Glu474Asp) c.1497G>T (p.Glu499Asp) c.1476G>T (p.Glu492Asp) c.1584G>T (p.Glu528Asp) | |
8 | g.93923482G>A | CA371697171 | PDP1 | c.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 |
8 | g.93923482G>C | CA371697174 | PDP1 | c.1423G>C (p.Asp475His) c.1498G>C (p.Asp500His) c.1477G>C (p.Asp493His) c.1585G>C (p.Asp529His) | |
8 | g.93923482G= | CA1803280968 | PDP1 | c.1423G= (p.Asp475=) c.1498G= (p.Asp500=) c.1477G= (p.Asp493=) c.1585G= (p.Asp529=) | |
8 | g.93923482G>T | CA4808825 | PDP1 | c.1423G>T (p.Asp475Tyr) c.1498G>T (p.Asp500Tyr) c.1477G>T (p.Asp493Tyr) c.1585G>T (p.Asp529Tyr) | dbSNP ExAC gnomAD v4 |
8 | g.93923483A>C | CA371697183 | PDP1 | c.1424A>C (p.Asp475Ala) c.1499A>C (p.Asp500Ala) c.1478A>C (p.Asp493Ala) c.1586A>C (p.Asp529Ala) | |
8 | g.93923483A>G | CA371697184 | PDP1 | c.1424A>G (p.Asp475Gly) c.1499A>G (p.Asp500Gly) c.1478A>G (p.Asp493Gly) c.1586A>G (p.Asp529Gly) | |
8 | g.93923483A>T | CA371697185 | PDP1 | c.1424A>T (p.Asp475Val) c.1499A>T (p.Asp500Val) c.1478A>T (p.Asp493Val) c.1586A>T (p.Asp529Val) | gnomAD v4 |
8 | g.93923484T>A | CA4808826 | PDP1 | c.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 |
8 | g.93923484T>C | CA462118249 | PDP1 | c.1425T>C (p.Asp475=) c.1500T>C (p.Asp500=) c.1479T>C (p.Asp493=) c.1587T>C (p.Asp529=) | |
8 | g.93923484T>G | CA371697186 | PDP1 | c.1425T>G (p.Asp475Glu) c.1500T>G (p.Asp500Glu) c.1479T>G (p.Asp493Glu) c.1587T>G (p.Asp529Glu) | |
8 | g.93923484T= | CA1803280969 | PDP1 | c.1425T= (p.Asp475=) c.1500T= (p.Asp500=) c.1479T= (p.Asp493=) c.1587T= (p.Asp529=) | |
8 | g.93923485C>A | CA371697189 | PDP1 | c.1426C>A (p.Gln476Lys) c.1501C>A (p.Gln501Lys) c.1480C>A (p.Gln494Lys) c.1588C>A (p.Gln530Lys) | gnomAD v4 |
8 | g.93923485C>G | CA371697191 | PDP1 | c.1426C>G (p.Gln476Glu) c.1501C>G (p.Gln501Glu) c.1480C>G (p.Gln494Glu) c.1588C>G (p.Gln530Glu) | |
8 | g.93923485C>T | CA371697194 | PDP1 | c.1426C>T (p.Gln476Ter) c.1501C>T (p.Gln501Ter) c.1480C>T (p.Gln494Ter) c.1588C>T (p.Gln530Ter) | |
8 | g.93923486A>C | CA371697197 | PDP1 | c.1427A>C (p.Gln476Pro) c.1502A>C (p.Gln501Pro) c.1481A>C (p.Gln494Pro) c.1589A>C (p.Gln530Pro) | |
8 | g.93923486A>G | CA371697201 | PDP1 | c.1427A>G (p.Gln476Arg) c.1502A>G (p.Gln501Arg) c.1481A>G (p.Gln494Arg) c.1589A>G (p.Gln530Arg) | gnomAD v4 |
8 | g.93923486A>T | CA371697203 | PDP1 | c.1427A>T (p.Gln476Leu) c.1502A>T (p.Gln501Leu) c.1481A>T (p.Gln494Leu) c.1589A>T (p.Gln530Leu) | |
8 | g.93923486_93923493del | CA2687927875 | PDP1 | c.1427_1434del (p.Gln476ArgfsTer18) c.1502_1509del (p.Gln501ArgfsTer18) c.1481_1488del (p.Gln494ArgfsTer18) c.1589_1596del (p.Gln530ArgfsTer18) | gnomAD v4 |
8 | g.93923487G>A | CA462118250 | PDP1 | c.1428G>A (p.Gln476=) c.1503G>A (p.Gln501=) c.1482G>A (p.Gln494=) c.1590G>A (p.Gln530=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923487G>C | CA371697207 | PDP1 | c.1428G>C (p.Gln476His) c.1503G>C (p.Gln501His) c.1482G>C (p.Gln494His) c.1590G>C (p.Gln530His) | |
8 | g.93923487G= | CA1803280970 | PDP1 | c.1428G= (p.Gln476=) c.1503G= (p.Gln501=) c.1482G= (p.Gln494=) c.1590G= (p.Gln530=) | |
8 | g.93923487G>T | CA371697205 | PDP1 | c.1428G>T (p.Gln476His) c.1503G>T (p.Gln501His) c.1482G>T (p.Gln494His) c.1590G>T (p.Gln530His) | dbSNP gnomAD v4 |
8 | g.93923488A= | CA1803280971 | PDP1 | c.1429A= (p.Asn477=) c.1504A= (p.Asn502=) c.1483A= (p.Asn495=) c.1591A= (p.Asn531=) | |
8 | g.93923488A>C | CA371697209 | PDP1 | c.1429A>C (p.Asn477His) c.1504A>C (p.Asn502His) c.1483A>C (p.Asn495His) c.1591A>C (p.Asn531His) | |
8 | g.93923488A>G | CA4808827 | PDP1 | c.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 |
8 | g.93923488A>T | CA371697222 | PDP1 | c.1429A>T (p.Asn477Tyr) c.1504A>T (p.Asn502Tyr) c.1483A>T (p.Asn495Tyr) c.1591A>T (p.Asn531Tyr) | |
8 | g.93923489A>C | CA371697227 | PDP1 | c.1430A>C (p.Asn477Thr) c.1505A>C (p.Asn502Thr) c.1484A>C (p.Asn495Thr) c.1592A>C (p.Asn531Thr) | |
8 | g.93923489A>G | CA371697231 | PDP1 | c.1430A>G (p.Asn477Ser) c.1505A>G (p.Asn502Ser) c.1484A>G (p.Asn495Ser) c.1592A>G (p.Asn531Ser) | gnomAD v4 |
8 | g.93923489A>T | CA371697234 | PDP1 | c.1430A>T (p.Asn477Ile) c.1505A>T (p.Asn502Ile) c.1484A>T (p.Asn495Ile) c.1592A>T (p.Asn531Ile) | |
8 | g.93923490C>A | CA371697240 | PDP1 | c.1431C>A (p.Asn477Lys) c.1506C>A (p.Asn502Lys) c.1485C>A (p.Asn495Lys) c.1593C>A (p.Asn531Lys) | |
8 | g.93923490C= | CA1803280972 | PDP1 | c.1431C= (p.Asn477=) c.1506C= (p.Asn502=) c.1485C= (p.Asn495=) c.1593C= (p.Asn531=) | |
8 | g.93923490C>G | CA371697238 | PDP1 | c.1431C>G (p.Asn477Lys) c.1506C>G (p.Asn502Lys) c.1485C>G (p.Asn495Lys) c.1593C>G (p.Asn531Lys) | |
8 | g.93923490C>T | CA292762 | PDP1 | c.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 |
8 | g.93923491G>A | CA4808828 | PDP1 | c.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 |
8 | g.93923491G>C | CA371697249 | PDP1 | c.1432G>C (p.Ala478Pro) c.1507G>C (p.Ala503Pro) c.1486G>C (p.Ala496Pro) c.1594G>C (p.Ala532Pro) | COSMIC |
8 | g.93923491G= | CA1803280973 | PDP1 | c.1432G= (p.Ala478=) c.1507G= (p.Ala503=) c.1486G= (p.Ala496=) c.1594G= (p.Ala532=) | |
8 | g.93923491G>T | CA371697252 | PDP1 | c.1432G>T (p.Ala478Ser) c.1507G>T (p.Ala503Ser) c.1486G>T (p.Ala496Ser) c.1594G>T (p.Ala532Ser) | dbSNP |
8 | g.93923492C>A | CA371697257 | PDP1 | c.1433C>A (p.Ala478Glu) c.1508C>A (p.Ala503Glu) c.1487C>A (p.Ala496Glu) c.1595C>A (p.Ala532Glu) | |
8 | g.93923492C>G | CA371697261 | PDP1 | c.1433C>G (p.Ala478Gly) c.1508C>G (p.Ala503Gly) c.1487C>G (p.Ala496Gly) c.1595C>G (p.Ala532Gly) | |
8 | g.93923492C>T | CA371697264 | PDP1 | c.1433C>T (p.Ala478Val) c.1508C>T (p.Ala503Val) c.1487C>T (p.Ala496Val) c.1595C>T (p.Ala532Val) | |
8 | g.93923493A= | CA1803280974 | PDP1 | c.1434A= (p.Ala478=) c.1509A= (p.Ala503=) c.1488A= (p.Ala496=) c.1596A= (p.Ala532=) | |
8 | g.93923493A>C | CA462118251 | PDP1 | c.1434A>C (p.Ala478=) c.1509A>C (p.Ala503=) c.1488A>C (p.Ala496=) c.1596A>C (p.Ala532=) | dbSNP |
8 | g.93923493A>G | CA4808829 | PDP1 | c.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 |
8 | g.93923493A>T | CA462118252 | PDP1 | c.1434A>T (p.Ala478=) c.1509A>T (p.Ala503=) c.1488A>T (p.Ala496=) c.1596A>T (p.Ala532=) | |
8 | g.93923494G>A | CA371697273 | PDP1 | c.1435G>A (p.Ala479Thr) c.1510G>A (p.Ala504Thr) c.1489G>A (p.Ala497Thr) c.1597G>A (p.Ala533Thr) | |
8 | g.93923494G>C | CA371697281 | PDP1 | c.1435G>C (p.Ala479Pro) c.1510G>C (p.Ala504Pro) c.1489G>C (p.Ala497Pro) c.1597G>C (p.Ala533Pro) | |
8 | g.93923494G>T | CA371697279 | PDP1 | c.1435G>T (p.Ala479Ser) c.1510G>T (p.Ala504Ser) c.1489G>T (p.Ala497Ser) c.1597G>T (p.Ala533Ser) | gnomAD v4 |
8 | g.93923495C>A | CA371697284 | PDP1 | c.1436C>A (p.Ala479Glu) c.1511C>A (p.Ala504Glu) c.1490C>A (p.Ala497Glu) c.1598C>A (p.Ala533Glu) | |
8 | g.93923495C>G | CA371697290 | PDP1 | c.1436C>G (p.Ala479Gly) c.1511C>G (p.Ala504Gly) c.1490C>G (p.Ala497Gly) c.1598C>G (p.Ala533Gly) | |
8 | g.93923495C>T | CA371697292 | PDP1 | c.1436C>T (p.Ala479Val) c.1511C>T (p.Ala504Val) c.1490C>T (p.Ala497Val) c.1598C>T (p.Ala533Val) | |
8 | g.93923496A>C | CA462118253 | PDP1 | c.1437A>C (p.Ala479=) c.1512A>C (p.Ala504=) c.1491A>C (p.Ala497=) c.1599A>C (p.Ala533=) | |
8 | g.93923496A>G | CA462118254 | PDP1 | c.1437A>G (p.Ala479=) c.1512A>G (p.Ala504=) c.1491A>G (p.Ala497=) c.1599A>G (p.Ala533=) | |
8 | g.93923496A>T | CA462118255 | PDP1 | c.1437A>T (p.Ala479=) c.1512A>T (p.Ala504=) c.1491A>T (p.Ala497=) c.1599A>T (p.Ala533=) | |
8 | g.93923497A>C | CA371697300 | PDP1 | c.1438A>C (p.Thr480Pro) c.1513A>C (p.Thr505Pro) c.1492A>C (p.Thr498Pro) c.1600A>C (p.Thr534Pro) | |
8 | g.93923497A>G | CA371697301 | PDP1 | c.1438A>G (p.Thr480Ala) c.1513A>G (p.Thr505Ala) c.1492A>G (p.Thr498Ala) c.1600A>G (p.Thr534Ala) | |
8 | g.93923497A>T | CA371697303 | PDP1 | c.1438A>T (p.Thr480Ser) c.1513A>T (p.Thr505Ser) c.1492A>T (p.Thr498Ser) c.1600A>T (p.Thr534Ser) | gnomAD v4 |
8 | g.93923498C>A | CA371697307 | PDP1 | c.1439C>A (p.Thr480Asn) c.1514C>A (p.Thr505Asn) c.1493C>A (p.Thr498Asn) c.1601C>A (p.Thr534Asn) | |
8 | g.93923498C>G | CA371697309 | PDP1 | c.1439C>G (p.Thr480Ser) c.1514C>G (p.Thr505Ser) c.1493C>G (p.Thr498Ser) c.1601C>G (p.Thr534Ser) | |
8 | g.93923498C>T | CA371697312 | PDP1 | c.1439C>T (p.Thr480Ile) c.1514C>T (p.Thr505Ile) c.1493C>T (p.Thr498Ile) c.1601C>T (p.Thr534Ile) | gnomAD v4 |
8 | g.93923499C>A | CA462118256 | PDP1 | c.1440C>A (p.Thr480=) c.1515C>A (p.Thr505=) c.1494C>A (p.Thr498=) c.1602C>A (p.Thr534=) | gnomAD v4 |
8 | g.93923499C>G | CA462118257 | PDP1 | c.1440C>G (p.Thr480=) c.1515C>G (p.Thr505=) c.1494C>G (p.Thr498=) c.1602C>G (p.Thr534=) | |
8 | g.93923499C>T | CA462118258 | PDP1 | c.1440C>T (p.Thr480=) c.1515C>T (p.Thr505=) c.1494C>T (p.Thr498=) c.1602C>T (p.Thr534=) | |
8 | g.93923500C>A | CA371697316 | PDP1 | c.1441C>A (p.His481Asn) c.1516C>A (p.His506Asn) c.1495C>A (p.His499Asn) c.1603C>A (p.His535Asn) | |
8 | g.93923500C>G | CA371697320 | PDP1 | c.1441C>G (p.His481Asp) c.1516C>G (p.His506Asp) c.1495C>G (p.His499Asp) c.1603C>G (p.His535Asp) | |
8 | g.93923500C>T | CA371697323 | PDP1 | c.1441C>T (p.His481Tyr) c.1516C>T (p.His506Tyr) c.1495C>T (p.His499Tyr) c.1603C>T (p.His535Tyr) | |
8 | g.93923501A>C | CA371697326 | PDP1 | c.1442A>C (p.His481Pro) c.1517A>C (p.His506Pro) c.1496A>C (p.His499Pro) c.1604A>C (p.His535Pro) | |
8 | g.93923501A>G | CA371697332 | PDP1 | c.1442A>G (p.His481Arg) c.1517A>G (p.His506Arg) c.1496A>G (p.His499Arg) c.1604A>G (p.His535Arg) | gnomAD v4 |
8 | g.93923501A>T | CA371697328 | PDP1 | c.1442A>T (p.His481Leu) c.1517A>T (p.His506Leu) c.1496A>T (p.His499Leu) c.1604A>T (p.His535Leu) | |
8 | g.93923502T>A | CA371697343 | PDP1 | c.1443T>A (p.His481Gln) c.1518T>A (p.His506Gln) c.1497T>A (p.His499Gln) c.1605T>A (p.His535Gln) | |
8 | g.93923502T>C | CA462118259 | PDP1 | c.1443T>C (p.His481=) c.1518T>C (p.His506=) c.1497T>C (p.His499=) c.1605T>C (p.His535=) | |
8 | g.93923502T>G | CA371697358 | PDP1 | c.1443T>G (p.His481Gln) c.1518T>G (p.His506Gln) c.1497T>G (p.His499Gln) c.1605T>G (p.His535Gln) | |
8 | g.93923503C>A | CA371697363 | PDP1 | c.1444C>A (p.Leu482Ile) c.1519C>A (p.Leu507Ile) c.1498C>A (p.Leu500Ile) c.1606C>A (p.Leu536Ile) | gnomAD v4 |
8 | g.93923503C>G | CA371697364 | PDP1 | c.1444C>G (p.Leu482Val) c.1519C>G (p.Leu507Val) c.1498C>G (p.Leu500Val) c.1606C>G (p.Leu536Val) | gnomAD v4 |
8 | g.93923503C>T | CA371697367 | PDP1 | c.1444C>T (p.Leu482Phe) c.1519C>T (p.Leu507Phe) c.1498C>T (p.Leu500Phe) c.1606C>T (p.Leu536Phe) | ClinVar |
8 | g.93923504T>A | CA371697370 | PDP1 | c.1445T>A (p.Leu482His) c.1520T>A (p.Leu507His) c.1499T>A (p.Leu500His) c.1607T>A (p.Leu536His) | |
8 | g.93923504T>C | CA371697373 | PDP1 | c.1445T>C (p.Leu482Pro) c.1520T>C (p.Leu507Pro) c.1499T>C (p.Leu500Pro) c.1607T>C (p.Leu536Pro) | |
8 | g.93923504T>G | CA371697377 | PDP1 | c.1445T>G (p.Leu482Arg) c.1520T>G (p.Leu507Arg) c.1499T>G (p.Leu500Arg) c.1607T>G (p.Leu536Arg) | |
8 | g.93923505C>A | CA4808831 | PDP1 | c.1446C>A (p.Leu482=) c.1521C>A (p.Leu507=) c.1500C>A (p.Leu500=) c.1608C>A (p.Leu536=) | dbSNP ExAC gnomAD v2 |
8 | g.93923505C= | CA1803280975 | PDP1 | c.1446C= (p.Leu482=) c.1521C= (p.Leu507=) c.1500C= (p.Leu500=) c.1608C= (p.Leu536=) | |
8 | g.93923505C>G | CA462118260 | PDP1 | c.1446C>G (p.Leu482=) c.1521C>G (p.Leu507=) c.1500C>G (p.Leu500=) c.1608C>G (p.Leu536=) | gnomAD v4 |
8 | g.93923505C>T | CA4808830 | PDP1 | c.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 |
8 | g.93923506A= | CA1803280976 | PDP1 | c.1447A= (p.Ile483=) c.1522A= (p.Ile508=) c.1501A= (p.Ile501=) c.1609A= (p.Ile537=) | |
8 | g.93923506A>C | CA371697387 | PDP1 | c.1447A>C (p.Ile483Leu) c.1522A>C (p.Ile508Leu) c.1501A>C (p.Ile501Leu) c.1609A>C (p.Ile537Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923506A>G | CA4808832 | PDP1 | c.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 |
8 | g.93923506A>T | CA371697390 | PDP1 | c.1447A>T (p.Ile483Phe) c.1522A>T (p.Ile508Phe) c.1501A>T (p.Ile501Phe) c.1609A>T (p.Ile537Phe) | |
8 | g.93923507T>A | CA371697407 | PDP1 | c.1448T>A (p.Ile483Asn) c.1523T>A (p.Ile508Asn) c.1502T>A (p.Ile501Asn) c.1610T>A (p.Ile537Asn) | |
8 | g.93923507T>C | CA371697399 | PDP1 | c.1448T>C (p.Ile483Thr) c.1523T>C (p.Ile508Thr) c.1502T>C (p.Ile501Thr) c.1610T>C (p.Ile537Thr) | |
8 | g.93923507T>G | CA371697395 | PDP1 | c.1448T>G (p.Ile483Ser) c.1523T>G (p.Ile508Ser) c.1502T>G (p.Ile501Ser) c.1610T>G (p.Ile537Ser) | |
8 | g.93923508T>A | CA462118261 | PDP1 | c.1449T>A (p.Ile483=) c.1524T>A (p.Ile508=) c.1503T>A (p.Ile501=) c.1611T>A (p.Ile537=) | |
8 | g.93923508T>C | CA462118262 | PDP1 | c.1449T>C (p.Ile483=) c.1524T>C (p.Ile508=) c.1503T>C (p.Ile501=) c.1611T>C (p.Ile537=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923508T>G | CA371697408 | PDP1 | c.1449T>G (p.Ile483Met) c.1524T>G (p.Ile508Met) c.1503T>G (p.Ile501Met) c.1611T>G (p.Ile537Met) | |
8 | g.93923508T= | CA1803280977 | PDP1 | c.1449T= (p.Ile483=) c.1524T= (p.Ile508=) c.1503T= (p.Ile501=) c.1611T= (p.Ile537=) | |
8 | g.93923509C>A | CA371697412 | PDP1 | c.1450C>A (p.Arg484Ser) c.1525C>A (p.Arg509Ser) c.1504C>A (p.Arg502Ser) c.1612C>A (p.Arg538Ser) | gnomAD v4 |
8 | g.93923509C= | CA1803280978 | PDP1 | c.1450C= (p.Arg484=) c.1525C= (p.Arg509=) c.1504C= (p.Arg502=) c.1612C= (p.Arg538=) | |
8 | g.93923509C>G | CA371697415 | PDP1 | c.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 |
8 | g.93923509C>T | CA4808833 | PDP1 | c.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 |
8 | g.93923510G>A | CA371697423 | PDP1 | c.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 |
8 | g.93923510G>C | CA371697430 | PDP1 | c.1451G>C (p.Arg484Pro) c.1526G>C (p.Arg509Pro) c.1505G>C (p.Arg502Pro) c.1613G>C (p.Arg538Pro) | |
8 | g.93923510G= | CA1803280979 | PDP1 | c.1451G= (p.Arg484=) c.1526G= (p.Arg509=) c.1505G= (p.Arg502=) c.1613G= (p.Arg538=) | |
8 | g.93923510G>T | CA371697431 | PDP1 | c.1451G>T (p.Arg484Leu) c.1526G>T (p.Arg509Leu) c.1505G>T (p.Arg502Leu) c.1613G>T (p.Arg538Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923511C>A | CA462118263 | PDP1 | c.1452C>A (p.Arg484=) c.1527C>A (p.Arg509=) c.1506C>A (p.Arg502=) c.1614C>A (p.Arg538=) | |
8 | g.93923511C>G | CA462118264 | PDP1 | c.1452C>G (p.Arg484=) c.1527C>G (p.Arg509=) c.1506C>G (p.Arg502=) c.1614C>G (p.Arg538=) | |
8 | g.93923511C>T | CA462118265 | PDP1 | c.1452C>T (p.Arg484=) c.1527C>T (p.Arg509=) c.1506C>T (p.Arg502=) c.1614C>T (p.Arg538=) | gnomAD v4 |
8 | g.93923511_93923525delinsCCACGCTGTGGGCAA | CA1803280980 | PDP1 | c.1452_1466delinsCCACGCTGTGGGCAA (p.Arg484=) c.1527_1541delinsCCACGCTGTGGGCAA (p.Arg509=) c.1506_1520delinsCCACGCTGTGGGCAA (p.Arg502=) c.1614_1628delinsCCACGCTGTGGGCAA (p.Arg538=) | |
8 | g.93923512C>A | CA371697436 | PDP1 | c.1453C>A (p.His485Asn) c.1528C>A (p.His510Asn) c.1507C>A (p.His503Asn) c.1615C>A (p.His539Asn) | |
8 | g.93923512C>G | CA371697439 | PDP1 | c.1453C>G (p.His485Asp) c.1528C>G (p.His510Asp) c.1507C>G (p.His503Asp) c.1615C>G (p.His539Asp) | |
8 | g.93923512C>T | CA371697442 | PDP1 | c.1453C>T (p.His485Tyr) c.1528C>T (p.His510Tyr) c.1507C>T (p.His503Tyr) c.1615C>T (p.His539Tyr) | |
8 | g.93923514_93923527del | CA4808834 | PDP1 | c.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 |
8 | g.93923513A>C | CA371697448 | PDP1 | c.1454A>C (p.His485Pro) c.1529A>C (p.His510Pro) c.1508A>C (p.His503Pro) c.1616A>C (p.His539Pro) | |
8 | g.93923513A>G | CA371697456 | PDP1 | c.1454A>G (p.His485Arg) c.1529A>G (p.His510Arg) c.1508A>G (p.His503Arg) c.1616A>G (p.His539Arg) | gnomAD v4 |
8 | g.93923513A>T | CA371697460 | PDP1 | c.1454A>T (p.His485Leu) c.1529A>T (p.His510Leu) c.1508A>T (p.His503Leu) c.1616A>T (p.His539Leu) | |
8 | g.93923514C>A | CA371697465 | PDP1 | c.1455C>A (p.His485Gln) c.1530C>A (p.His510Gln) c.1509C>A (p.His503Gln) c.1617C>A (p.His539Gln) | |
8 | g.93923514C= | CA1803280981 | PDP1 | c.1455C= (p.His485=) c.1530C= (p.His510=) c.1509C= (p.His503=) c.1617C= (p.His539=) | |
8 | g.93923514C>G | CA371697466 | PDP1 | c.1455C>G (p.His485Gln) c.1530C>G (p.His510Gln) c.1509C>G (p.His503Gln) c.1617C>G (p.His539Gln) | |
8 | g.93923514C>T | CA4808835 | PDP1 | c.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 |
8 | g.93923515G>A | CA371697467 | PDP1 | c.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 |
8 | g.93923515G>C | CA371697468 | PDP1 | c.1456G>C (p.Ala486Pro) c.1531G>C (p.Ala511Pro) c.1510G>C (p.Ala504Pro) c.1618G>C (p.Ala540Pro) | |
8 | g.93923515G= | CA1803280982 | PDP1 | c.1456G= (p.Ala486=) c.1531G= (p.Ala511=) c.1510G= (p.Ala504=) c.1618G= (p.Ala540=) | |
8 | g.93923515G>T | CA371697472 | PDP1 | c.1456G>T (p.Ala486Ser) c.1531G>T (p.Ala511Ser) c.1510G>T (p.Ala504Ser) c.1618G>T (p.Ala540Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923516C>A | CA371697475 | PDP1 | c.1457C>A (p.Ala486Asp) c.1532C>A (p.Ala511Asp) c.1511C>A (p.Ala504Asp) c.1619C>A (p.Ala540Asp) | |
8 | g.93923516C= | CA1803280983 | PDP1 | c.1457C= (p.Ala486=) c.1532C= (p.Ala511=) c.1511C= (p.Ala504=) c.1619C= (p.Ala540=) | |
8 | g.93923516C>G | CA181376319 | PDP1 | c.1457C>G (p.Ala486Gly) c.1532C>G (p.Ala511Gly) c.1511C>G (p.Ala504Gly) c.1619C>G (p.Ala540Gly) | dbSNP gnomAD v4 |
8 | g.93923516C>T | CA371697479 | PDP1 | c.1457C>T (p.Ala486Val) c.1532C>T (p.Ala511Val) c.1511C>T (p.Ala504Val) c.1619C>T (p.Ala540Val) | |
8 | g.93923517T>A | CA462118266 | PDP1 | c.1458T>A (p.Ala486=) c.1533T>A (p.Ala511=) c.1512T>A (p.Ala504=) c.1620T>A (p.Ala540=) | gnomAD v4 |
8 | g.93923517T>C | CA462118267 | PDP1 | c.1458T>C (p.Ala486=) c.1533T>C (p.Ala511=) c.1512T>C (p.Ala504=) c.1620T>C (p.Ala540=) | |
8 | g.93923517T>G | CA462118268 | PDP1 | c.1458T>G (p.Ala486=) c.1533T>G (p.Ala511=) c.1512T>G (p.Ala504=) c.1620T>G (p.Ala540=) | |
8 | g.93923518G>A | CA371697482 | PDP1 | c.1459G>A (p.Val487Met) c.1534G>A (p.Val512Met) c.1513G>A (p.Val505Met) c.1621G>A (p.Val541Met) | |
8 | g.93923518G>C | CA371697484 | PDP1 | c.1459G>C (p.Val487Leu) c.1534G>C (p.Val512Leu) c.1513G>C (p.Val505Leu) c.1621G>C (p.Val541Leu) | |
8 | g.93923518G>T | CA371697486 | PDP1 | c.1459G>T (p.Val487Leu) c.1534G>T (p.Val512Leu) c.1513G>T (p.Val505Leu) c.1621G>T (p.Val541Leu) | |
8 | g.93923519T>A | CA371697488 | PDP1 | c.1460T>A (p.Val487Glu) c.1535T>A (p.Val512Glu) c.1514T>A (p.Val505Glu) c.1622T>A (p.Val541Glu) | |
8 | g.93923519T>C | CA371697489 | PDP1 | c.1460T>C (p.Val487Ala) c.1535T>C (p.Val512Ala) c.1514T>C (p.Val505Ala) c.1622T>C (p.Val541Ala) | |
8 | g.93923519T>G | CA371697490 | PDP1 | c.1460T>G (p.Val487Gly) c.1535T>G (p.Val512Gly) c.1514T>G (p.Val505Gly) c.1622T>G (p.Val541Gly) | |
8 | g.93923520G>A | CA4808836 | PDP1 | c.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 |
8 | g.93923520G>C | CA462118269 | PDP1 | c.1461G>C (p.Val487=) c.1536G>C (p.Val512=) c.1515G>C (p.Val505=) c.1623G>C (p.Val541=) | |
8 | g.93923520G= | CA1803280984 | PDP1 | c.1461G= (p.Val487=) c.1536G= (p.Val512=) c.1515G= (p.Val505=) c.1623G= (p.Val541=) | |
8 | g.93923520G>T | CA462118270 | PDP1 | c.1461G>T (p.Val487=) c.1536G>T (p.Val512=) c.1515G>T (p.Val505=) c.1623G>T (p.Val541=) | |
8 | g.93923521G>A | CA371697498 | PDP1 | c.1462G>A (p.Gly488Ser) c.1537G>A (p.Gly513Ser) c.1516G>A (p.Gly506Ser) c.1624G>A (p.Gly542Ser) | |
8 | g.93923521G>C | CA371697494 | PDP1 | c.1462G>C (p.Gly488Arg) c.1537G>C (p.Gly513Arg) c.1516G>C (p.Gly506Arg) c.1624G>C (p.Gly542Arg) | |
8 | g.93923521G>T | CA371697495 | PDP1 | c.1462G>T (p.Gly488Cys) c.1537G>T (p.Gly513Cys) c.1516G>T (p.Gly506Cys) c.1624G>T (p.Gly542Cys) | |
8 | g.93923522G>A | CA371697500 | PDP1 | c.1463G>A (p.Gly488Asp) c.1538G>A (p.Gly513Asp) c.1517G>A (p.Gly506Asp) c.1625G>A (p.Gly542Asp) | dbSNP COSMIC COSMIC |
8 | g.93923522G>C | CA371697502 | PDP1 | c.1463G>C (p.Gly488Ala) c.1538G>C (p.Gly513Ala) c.1517G>C (p.Gly506Ala) c.1625G>C (p.Gly542Ala) | |
8 | g.93923522G>T | CA371697510 | PDP1 | c.1463G>T (p.Gly488Val) c.1538G>T (p.Gly513Val) c.1517G>T (p.Gly506Val) c.1625G>T (p.Gly542Val) | |
8 | g.93923523C>A | CA462118273 | PDP1 | c.1464C>A (p.Gly488=) c.1539C>A (p.Gly513=) c.1518C>A (p.Gly506=) c.1626C>A (p.Gly542=) | |
8 | g.93923523C= | CA1803280985 | PDP1 | c.1464C= (p.Gly488=) c.1539C= (p.Gly513=) c.1518C= (p.Gly506=) c.1626C= (p.Gly542=) | |
8 | g.93923523C>G | CA462118271 | PDP1 | c.1464C>G (p.Gly488=) c.1539C>G (p.Gly513=) c.1518C>G (p.Gly506=) c.1626C>G (p.Gly542=) | |
8 | g.93923523C>T | CA462118272 | PDP1 | c.1464C>T (p.Gly488=) c.1539C>T (p.Gly513=) c.1518C>T (p.Gly506=) c.1626C>T (p.Gly542=) | dbSNP gnomAD v4 |
8 | g.93923527_93923529del | CA2687927876 | PDP1 | c.1468_1470del (p.Asn490del) c.1543_1545del (p.Asn515del) c.1522_1524del (p.Asn508del) c.1630_1632del (p.Asn544del) | gnomAD v4 |
8 | g.93923524A>C | CA371697512 | PDP1 | c.1465A>C (p.Asn489His) c.1540A>C (p.Asn514His) c.1519A>C (p.Asn507His) c.1627A>C (p.Asn543His) | |
8 | g.93923524A>G | CA371697513 | PDP1 | c.1465A>G (p.Asn489Asp) c.1540A>G (p.Asn514Asp) c.1519A>G (p.Asn507Asp) c.1627A>G (p.Asn543Asp) | |
8 | g.93923524A>T | CA371697514 | PDP1 | c.1465A>T (p.Asn489Tyr) c.1540A>T (p.Asn514Tyr) c.1519A>T (p.Asn507Tyr) c.1627A>T (p.Asn543Tyr) | |
8 | g.93923524_93923525dup | CA2687927877 | PDP1 | c.1465_1466dup (p.Asn489LysfsTer?) c.1540_1541dup (p.Asn514LysfsTer?) c.1519_1520dup (p.Asn507LysfsTer?) c.1627_1628dup (p.Asn543LysfsTer?) | gnomAD v4 |
8 | g.93923525A= | CA1803280986 | PDP1 | c.1466A= (p.Asn489=) c.1541A= (p.Asn514=) c.1520A= (p.Asn507=) c.1628A= (p.Asn543=) | |
8 | g.93923525A>C | CA371697515 | PDP1 | c.1466A>C (p.Asn489Thr) c.1541A>C (p.Asn514Thr) c.1520A>C (p.Asn507Thr) c.1628A>C (p.Asn543Thr) | |
8 | g.93923525A>G | CA4808837 | PDP1 | c.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 |
8 | g.93923525A>T | CA371697517 | PDP1 | c.1466A>T (p.Asn489Ile) c.1541A>T (p.Asn514Ile) c.1520A>T (p.Asn507Ile) c.1628A>T (p.Asn543Ile) | |
8 | g.93923526C>A | CA371697519 | PDP1 | c.1467C>A (p.Asn489Lys) c.1542C>A (p.Asn514Lys) c.1521C>A (p.Asn507Lys) c.1629C>A (p.Asn543Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923526C= | CA1803280987 | PDP1 | c.1467C= (p.Asn489=) c.1542C= (p.Asn514=) c.1521C= (p.Asn507=) c.1629C= (p.Asn543=) | |
8 | g.93923526C>G | CA371697520 | PDP1 | c.1467C>G (p.Asn489Lys) c.1542C>G (p.Asn514Lys) c.1521C>G (p.Asn507Lys) c.1629C>G (p.Asn543Lys) | |
8 | g.93923526C>T | CA462118274 | PDP1 | c.1467C>T (p.Asn489=) c.1542C>T (p.Asn514=) c.1521C>T (p.Asn507=) c.1629C>T (p.Asn543=) | |
8 | g.93923527A>C | CA371697523 | PDP1 | c.1468A>C (p.Asn490His) c.1543A>C (p.Asn515His) c.1522A>C (p.Asn508His) c.1630A>C (p.Asn544His) | |
8 | g.93923527A>G | CA371697522 | PDP1 | c.1468A>G (p.Asn490Asp) c.1543A>G (p.Asn515Asp) c.1522A>G (p.Asn508Asp) c.1630A>G (p.Asn544Asp) | |
8 | g.93923527A>T | CA371697521 | PDP1 | c.1468A>T (p.Asn490Tyr) c.1543A>T (p.Asn515Tyr) c.1522A>T (p.Asn508Tyr) c.1630A>T (p.Asn544Tyr) | |
8 | g.93923528A>C | CA371697526 | PDP1 | c.1469A>C (p.Asn490Thr) c.1544A>C (p.Asn515Thr) c.1523A>C (p.Asn508Thr) c.1631A>C (p.Asn544Thr) | |
8 | g.93923528A>G | CA371697533 | PDP1 | c.1469A>G (p.Asn490Ser) c.1544A>G (p.Asn515Ser) c.1523A>G (p.Asn508Ser) c.1631A>G (p.Asn544Ser) | |
8 | g.93923528A>T | CA371697528 | PDP1 | c.1469A>T (p.Asn490Ile) c.1544A>T (p.Asn515Ile) c.1523A>T (p.Asn508Ile) c.1631A>T (p.Asn544Ile) |