| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.93923358G>A | CA462118167 | PDP1 | c.1299G>A (p.Val433=) c.1374G>A (p.Val458=) c.1353G>A (p.Val451=) c.1461G>A (p.Val487=) | |
| 8 | g.93923358G>C | CA462118168 | PDP1 | c.1299G>C (p.Val433=) c.1374G>C (p.Val458=) c.1353G>C (p.Val451=) c.1461G>C (p.Val487=) | |
| 8 | g.93923358G>T | CA462118169 | PDP1 | c.1299G>T (p.Val433=) c.1374G>T (p.Val458=) c.1353G>T (p.Val451=) c.1461G>T (p.Val487=) | |
| 8 | g.93923359G>A | CA371696534 | PDP1 | c.1300G>A (p.Gly434Ser) c.1375G>A (p.Gly459Ser) c.1354G>A (p.Gly452Ser) c.1462G>A (p.Gly488Ser) | |
| 8 | g.93923359G>C | CA371696535 | PDP1 | c.1300G>C (p.Gly434Arg) c.1375G>C (p.Gly459Arg) c.1354G>C (p.Gly452Arg) c.1462G>C (p.Gly488Arg) | |
| 8 | g.93923359G= | CA1803280917 | PDP1 | c.1300G= (p.Gly434=) c.1375G= (p.Gly459=) c.1354G= (p.Gly452=) c.1462G= (p.Gly488=) | |
| 8 | g.93923359G>T | CA371696536 | PDP1 | c.1300G>T (p.Gly434Cys) c.1375G>T (p.Gly459Cys) c.1354G>T (p.Gly452Cys) c.1462G>T (p.Gly488Cys) | dbSNP gnomAD v4 |
| 8 | g.93923360G>A | CA371696538 | PDP1 | c.1301G>A (p.Gly434Asp) c.1376G>A (p.Gly459Asp) c.1355G>A (p.Gly452Asp) c.1463G>A (p.Gly488Asp) | |
| 8 | g.93923360G>C | CA371696540 | PDP1 | c.1301G>C (p.Gly434Ala) c.1376G>C (p.Gly459Ala) c.1355G>C (p.Gly452Ala) c.1463G>C (p.Gly488Ala) | |
| 8 | g.93923360G>T | CA371696541 | PDP1 | c.1301G>T (p.Gly434Val) c.1376G>T (p.Gly459Val) c.1355G>T (p.Gly452Val) c.1463G>T (p.Gly488Val) | |
| 8 | g.93923361T>A | CA462118170 | PDP1 | c.1302T>A (p.Gly434=) c.1377T>A (p.Gly459=) c.1356T>A (p.Gly452=) c.1464T>A (p.Gly488=) | |
| 8 | g.93923361T>C | CA462118171 | PDP1 | c.1302T>C (p.Gly434=) c.1377T>C (p.Gly459=) c.1356T>C (p.Gly452=) c.1464T>C (p.Gly488=) | |
| 8 | g.93923361T>G | CA462118172 | PDP1 | c.1302T>G (p.Gly434=) c.1377T>G (p.Gly459=) c.1356T>G (p.Gly452=) c.1464T>G (p.Gly488=) | dbSNP |
| 8 | g.93923361T= | CA1803280918 | PDP1 | c.1302T= (p.Gly434=) c.1377T= (p.Gly459=) c.1356T= (p.Gly452=) c.1464T= (p.Gly488=) | |
| 8 | g.93923362G>A | CA371696544 | PDP1 | c.1303G>A (p.Glu435Lys) c.1378G>A (p.Glu460Lys) c.1357G>A (p.Glu453Lys) c.1465G>A (p.Glu489Lys) | gnomAD v4 |
| 8 | g.93923362G>C | CA371696548 | PDP1 | c.1303G>C (p.Glu435Gln) c.1378G>C (p.Glu460Gln) c.1357G>C (p.Glu453Gln) c.1465G>C (p.Glu489Gln) | |
| 8 | g.93923362G>T | CA371696546 | PDP1 | c.1303G>T (p.Glu435Ter) c.1378G>T (p.Glu460Ter) c.1357G>T (p.Glu453Ter) c.1465G>T (p.Glu489Ter) | |
| 8 | g.93923363A= | CA1803280919 | PDP1 | c.1304A= (p.Glu435=) c.1379A= (p.Glu460=) c.1358A= (p.Glu453=) c.1466A= (p.Glu489=) | |
| 8 | g.93923363A>C | CA371696551 | PDP1 | c.1304A>C (p.Glu435Ala) c.1379A>C (p.Glu460Ala) c.1358A>C (p.Glu453Ala) c.1466A>C (p.Glu489Ala) | |
| 8 | g.93923363A>G | CA4808805 | PDP1 | c.1304A>G (p.Glu435Gly) c.1379A>G (p.Glu460Gly) c.1358A>G (p.Glu453Gly) c.1466A>G (p.Glu489Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.93923363A>T | CA371696554 | PDP1 | c.1304A>T (p.Glu435Val) c.1379A>T (p.Glu460Val) c.1358A>T (p.Glu453Val) c.1466A>T (p.Glu489Val) | |
| 8 | g.93923364G>A | CA462118173 | PDP1 | c.1305G>A (p.Glu435=) c.1380G>A (p.Glu460=) c.1359G>A (p.Glu453=) c.1467G>A (p.Glu489=) | |
| 8 | g.93923364G>C | CA371696556 | PDP1 | c.1305G>C (p.Glu435Asp) c.1380G>C (p.Glu460Asp) c.1359G>C (p.Glu453Asp) c.1467G>C (p.Glu489Asp) | |
| 8 | g.93923364G= | CA1803280920 | PDP1 | c.1305G= (p.Glu435=) c.1380G= (p.Glu460=) c.1359G= (p.Glu453=) c.1467G= (p.Glu489=) | |
| 8 | g.93923364G>T | CA371696558 | PDP1 | c.1305G>T (p.Glu435Asp) c.1380G>T (p.Glu460Asp) c.1359G>T (p.Glu453Asp) c.1467G>T (p.Glu489Asp) | |
| 8 | g.93923365T>A | CA371696560 | PDP1 | c.1306T>A (p.Tyr436Asn) c.1381T>A (p.Tyr461Asn) c.1360T>A (p.Tyr454Asn) c.1468T>A (p.Tyr490Asn) | |
| 8 | g.93923365T>C | CA371696561 | PDP1 | c.1306T>C (p.Tyr436His) c.1381T>C (p.Tyr461His) c.1360T>C (p.Tyr454His) c.1468T>C (p.Tyr490His) | |
| 8 | g.93923365T>G | CA371696562 | PDP1 | c.1306T>G (p.Tyr436Asp) c.1381T>G (p.Tyr461Asp) c.1360T>G (p.Tyr454Asp) c.1468T>G (p.Tyr490Asp) | |
| 8 | g.93923365dup | CA583844357 | PDP1 | c.1306dup (p.Tyr436LeufsTer?) c.1381dup (p.Tyr461LeufsTer?) c.1360dup (p.Tyr454LeufsTer?) c.1468dup (p.Tyr490LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923367_93923370del | CA2579206332 | PDP1 | c.1308_1311del (p.Tyr436Ter) c.1383_1386del (p.Tyr461Ter) c.1362_1365del (p.Tyr454Ter) c.1470_1473del (p.Tyr490Ter) | |
| 8 | g.93923366A= | CA1803280921 | PDP1 | c.1307A= (p.Tyr436=) c.1382A= (p.Tyr461=) c.1361A= (p.Tyr454=) c.1469A= (p.Tyr490=) | |
| 8 | g.93923366A>C | CA371696565 | PDP1 | c.1307A>C (p.Tyr436Ser) c.1382A>C (p.Tyr461Ser) c.1361A>C (p.Tyr454Ser) c.1469A>C (p.Tyr490Ser) | dbSNP |
| 8 | g.93923366A>G | CA371696567 | PDP1 | c.1307A>G (p.Tyr436Cys) c.1382A>G (p.Tyr461Cys) c.1361A>G (p.Tyr454Cys) c.1469A>G (p.Tyr490Cys) | |
| 8 | g.93923366A>T | CA371696569 | PDP1 | c.1307A>T (p.Tyr436Phe) c.1382A>T (p.Tyr461Phe) c.1361A>T (p.Tyr454Phe) c.1469A>T (p.Tyr490Phe) | |
| 8 | g.93923367C>A | CA371696571 | PDP1 | c.1308C>A (p.Tyr436Ter) c.1383C>A (p.Tyr461Ter) c.1362C>A (p.Tyr454Ter) c.1470C>A (p.Tyr490Ter) | |
| 8 | g.93923367C>G | CA371696573 | PDP1 | c.1308C>G (p.Tyr436Ter) c.1383C>G (p.Tyr461Ter) c.1362C>G (p.Tyr454Ter) c.1470C>G (p.Tyr490Ter) | |
| 8 | g.93923367C>T | CA462118174 | PDP1 | c.1308C>T (p.Tyr436=) c.1383C>T (p.Tyr461=) c.1362C>T (p.Tyr454=) c.1470C>T (p.Tyr490=) | |
| 8 | g.93923368C>A | CA371696575 | PDP1 | c.1309C>A (p.Leu437Ile) c.1384C>A (p.Leu462Ile) c.1363C>A (p.Leu455Ile) c.1471C>A (p.Leu491Ile) | |
| 8 | g.93923368C>G | CA371696576 | PDP1 | c.1309C>G (p.Leu437Val) c.1384C>G (p.Leu462Val) c.1363C>G (p.Leu455Val) c.1471C>G (p.Leu491Val) | |
| 8 | g.93923368C>T | CA462118175 | PDP1 | c.1309C>T (p.Leu437=) c.1384C>T (p.Leu462=) c.1363C>T (p.Leu455=) c.1471C>T (p.Leu491=) | gnomAD v4 |
| 8 | g.93923369T>A | CA371696578 | PDP1 | c.1310T>A (p.Leu437Gln) c.1385T>A (p.Leu462Gln) c.1364T>A (p.Leu455Gln) c.1472T>A (p.Leu491Gln) | |
| 8 | g.93923369T>C | CA371696580 | PDP1 | c.1310T>C (p.Leu437Pro) c.1385T>C (p.Leu462Pro) c.1364T>C (p.Leu455Pro) c.1472T>C (p.Leu491Pro) | |
| 8 | g.93923369T>G | CA371696582 | PDP1 | c.1310T>G (p.Leu437Arg) c.1385T>G (p.Leu462Arg) c.1364T>G (p.Leu455Arg) c.1472T>G (p.Leu491Arg) | |
| 8 | g.93923370A= | CA1803280922 | PDP1 | c.1311A= (p.Leu437=) c.1386A= (p.Leu462=) c.1365A= (p.Leu455=) c.1473A= (p.Leu491=) | |
| 8 | g.93923370A>C | CA462118176 | PDP1 | c.1311A>C (p.Leu437=) c.1386A>C (p.Leu462=) c.1365A>C (p.Leu455=) c.1473A>C (p.Leu491=) | |
| 8 | g.93923370A>G | CA462118177 | PDP1 | c.1311A>G (p.Leu437=) c.1386A>G (p.Leu462=) c.1365A>G (p.Leu455=) c.1473A>G (p.Leu491=) | |
| 8 | g.93923370A>T | CA4808806 | PDP1 | c.1311A>T (p.Leu437=) c.1386A>T (p.Leu462=) c.1365A>T (p.Leu455=) c.1473A>T (p.Leu491=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923371A>C | CA371696585 | PDP1 | c.1312A>C (p.Thr438Pro) c.1387A>C (p.Thr463Pro) c.1366A>C (p.Thr456Pro) c.1474A>C (p.Thr492Pro) | |
| 8 | g.93923371A>G | CA371696587 | PDP1 | c.1312A>G (p.Thr438Ala) c.1387A>G (p.Thr463Ala) c.1366A>G (p.Thr456Ala) c.1474A>G (p.Thr492Ala) | gnomAD v4 |
| 8 | g.93923371A>T | CA371696589 | PDP1 | c.1312A>T (p.Thr438Ser) c.1387A>T (p.Thr463Ser) c.1366A>T (p.Thr456Ser) c.1474A>T (p.Thr492Ser) | |
| 8 | g.93923372C>A | CA371696592 | PDP1 | c.1313C>A (p.Thr438Asn) c.1388C>A (p.Thr463Asn) c.1367C>A (p.Thr456Asn) c.1475C>A (p.Thr492Asn) | dbSNP |
| 8 | g.93923372C= | CA1803280923 | PDP1 | c.1313C= (p.Thr438=) c.1388C= (p.Thr463=) c.1367C= (p.Thr456=) c.1475C= (p.Thr492=) | |
| 8 | g.93923372C>G | CA371696593 | PDP1 | c.1313C>G (p.Thr438Ser) c.1388C>G (p.Thr463Ser) c.1367C>G (p.Thr456Ser) c.1475C>G (p.Thr492Ser) | |
| 8 | g.93923372C>T | CA371696594 | PDP1 | c.1313C>T (p.Thr438Ile) c.1388C>T (p.Thr463Ile) c.1367C>T (p.Thr456Ile) c.1475C>T (p.Thr492Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923373T>A | CA462118178 | PDP1 | c.1314T>A (p.Thr438=) c.1389T>A (p.Thr463=) c.1368T>A (p.Thr456=) c.1476T>A (p.Thr492=) | |
| 8 | g.93923373T>C | CA462118179 | PDP1 | c.1314T>C (p.Thr438=) c.1389T>C (p.Thr463=) c.1368T>C (p.Thr456=) c.1476T>C (p.Thr492=) | |
| 8 | g.93923373T>G | CA462118180 | PDP1 | c.1314T>G (p.Thr438=) c.1389T>G (p.Thr463=) c.1368T>G (p.Thr456=) c.1476T>G (p.Thr492=) | dbSNP |
| 8 | g.93923373T= | CA1803280924 | PDP1 | c.1314T= (p.Thr438=) c.1389T= (p.Thr463=) c.1368T= (p.Thr456=) c.1476T= (p.Thr492=) | |
| 8 | g.93923374G>A | CA371696599 | PDP1 | c.1315G>A (p.Gly439Ser) c.1390G>A (p.Gly464Ser) c.1369G>A (p.Gly457Ser) c.1477G>A (p.Gly493Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923374G>C | CA371696601 | PDP1 | c.1315G>C (p.Gly439Arg) c.1390G>C (p.Gly464Arg) c.1369G>C (p.Gly457Arg) c.1477G>C (p.Gly493Arg) | |
| 8 | g.93923374G= | CA1803280925 | PDP1 | c.1315G= (p.Gly439=) c.1390G= (p.Gly464=) c.1369G= (p.Gly457=) c.1477G= (p.Gly493=) | |
| 8 | g.93923374G>T | CA371696604 | PDP1 | c.1315G>T (p.Gly439Cys) c.1390G>T (p.Gly464Cys) c.1369G>T (p.Gly457Cys) c.1477G>T (p.Gly493Cys) | |
| 8 | g.93923375G>A | CA4808807 | PDP1 | c.1316G>A (p.Gly439Asp) c.1391G>A (p.Gly464Asp) c.1370G>A (p.Gly457Asp) c.1478G>A (p.Gly493Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923375G>C | CA371696606 | PDP1 | c.1316G>C (p.Gly439Ala) c.1391G>C (p.Gly464Ala) c.1370G>C (p.Gly457Ala) c.1478G>C (p.Gly493Ala) | |
| 8 | g.93923375G= | CA1803280926 | PDP1 | c.1316G= (p.Gly439=) c.1391G= (p.Gly464=) c.1370G= (p.Gly457=) c.1478G= (p.Gly493=) | |
| 8 | g.93923375G>T | CA371696608 | PDP1 | c.1316G>T (p.Gly439Val) c.1391G>T (p.Gly464Val) c.1370G>T (p.Gly457Val) c.1478G>T (p.Gly493Val) | dbSNP gnomAD v4 |
| 8 | g.93923376C>A | CA462118181 | PDP1 | c.1317C>A (p.Gly439=) c.1392C>A (p.Gly464=) c.1371C>A (p.Gly457=) c.1479C>A (p.Gly493=) | |
| 8 | g.93923376C>G | CA462118182 | PDP1 | c.1317C>G (p.Gly439=) c.1392C>G (p.Gly464=) c.1371C>G (p.Gly457=) c.1479C>G (p.Gly493=) | |
| 8 | g.93923376C>T | CA462118183 | PDP1 | c.1317C>T (p.Gly439=) c.1392C>T (p.Gly464=) c.1371C>T (p.Gly457=) c.1479C>T (p.Gly493=) | |
| 8 | g.93923377A= | CA1803280927 | PDP1 | c.1318A= (p.Met440=) c.1393A= (p.Met465=) c.1372A= (p.Met458=) c.1480A= (p.Met494=) | |
| 8 | g.93923377A>C | CA371696611 | PDP1 | c.1318A>C (p.Met440Leu) c.1393A>C (p.Met465Leu) c.1372A>C (p.Met458Leu) c.1480A>C (p.Met494Leu) | |
| 8 | g.93923377A>G | CA4808808 | PDP1 | c.1318A>G (p.Met440Val) c.1393A>G (p.Met465Val) c.1372A>G (p.Met458Val) c.1480A>G (p.Met494Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923377A>T | CA371696614 | PDP1 | c.1318A>T (p.Met440Leu) c.1393A>T (p.Met465Leu) c.1372A>T (p.Met458Leu) c.1480A>T (p.Met494Leu) | |
| 8 | g.93923378T>A | CA371696616 | PDP1 | c.1319T>A (p.Met440Lys) c.1394T>A (p.Met465Lys) c.1373T>A (p.Met458Lys) c.1481T>A (p.Met494Lys) | |
| 8 | g.93923378T>C | CA371696618 | PDP1 | c.1319T>C (p.Met440Thr) c.1394T>C (p.Met465Thr) c.1373T>C (p.Met458Thr) c.1481T>C (p.Met494Thr) | |
| 8 | g.93923378T>G | CA371696619 | PDP1 | c.1319T>G (p.Met440Arg) c.1394T>G (p.Met465Arg) c.1373T>G (p.Met458Arg) c.1481T>G (p.Met494Arg) | |
| 8 | g.93923379del | CA2687927872 | PDP1 | c.1320del (p.Met440IlefsTer7) c.1395del (p.Met465IlefsTer7) c.1374del (p.Met458IlefsTer7) c.1482del (p.Met494IlefsTer7) | gnomAD v4 |
| 8 | g.93923379G>A | CA371696622 | PDP1 | c.1320G>A (p.Met440Ile) c.1395G>A (p.Met465Ile) c.1374G>A (p.Met458Ile) c.1482G>A (p.Met494Ile) | gnomAD v4 |
| 8 | g.93923379G>C | CA371696624 | PDP1 | c.1320G>C (p.Met440Ile) c.1395G>C (p.Met465Ile) c.1374G>C (p.Met458Ile) c.1482G>C (p.Met494Ile) | |
| 8 | g.93923379G>T | CA371696626 | PDP1 | c.1320G>T (p.Met440Ile) c.1395G>T (p.Met465Ile) c.1374G>T (p.Met458Ile) c.1482G>T (p.Met494Ile) | |
| 8 | g.93923380C>A | CA371696628 | PDP1 | c.1321C>A (p.His441Asn) c.1396C>A (p.His466Asn) c.1375C>A (p.His459Asn) c.1483C>A (p.His495Asn) | ClinVar gnomAD v4 |
| 8 | g.93923380C>G | CA371696630 | PDP1 | c.1321C>G (p.His441Asp) c.1396C>G (p.His466Asp) c.1375C>G (p.His459Asp) c.1483C>G (p.His495Asp) | |
| 8 | g.93923380C>T | CA371696632 | PDP1 | c.1321C>T (p.His441Tyr) c.1396C>T (p.His466Tyr) c.1375C>T (p.His459Tyr) c.1483C>T (p.His495Tyr) | |
| 8 | g.93923381A= | CA1803280928 | PDP1 | c.1322A= (p.His441=) c.1397A= (p.His466=) c.1376A= (p.His459=) c.1484A= (p.His495=) | |
| 8 | g.93923381A>C | CA371696633 | PDP1 | c.1322A>C (p.His441Pro) c.1397A>C (p.His466Pro) c.1376A>C (p.His459Pro) c.1484A>C (p.His495Pro) | |
| 8 | g.93923381A>G | CA4808809 | PDP1 | c.1322A>G (p.His441Arg) c.1397A>G (p.His466Arg) c.1376A>G (p.His459Arg) c.1484A>G (p.His495Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923381A>T | CA371696634 | PDP1 | c.1322A>T (p.His441Leu) c.1397A>T (p.His466Leu) c.1376A>T (p.His459Leu) c.1484A>T (p.His495Leu) | |
| 8 | g.93923381_93923382del | CA2579206333 | PDP1 | c.1322_1323del (p.His441ProfsTer?) c.1397_1398del (p.His466ProfsTer?) c.1376_1377del (p.His459ProfsTer?) c.1484_1485del (p.His495ProfsTer?) | |
| 8 | g.93923382T>A | CA371696637 | PDP1 | c.1323T>A (p.His441Gln) c.1398T>A (p.His466Gln) c.1377T>A (p.His459Gln) c.1485T>A (p.His495Gln) | |
| 8 | g.93923382T>C | CA462118184 | PDP1 | c.1323T>C (p.His441=) c.1398T>C (p.His466=) c.1377T>C (p.His459=) c.1485T>C (p.His495=) | |
| 8 | g.93923382T>G | CA371696639 | PDP1 | c.1323T>G (p.His441Gln) c.1398T>G (p.His466Gln) c.1377T>G (p.His459Gln) c.1485T>G (p.His495Gln) | |
| 8 | g.93923383C>A | CA371696641 | PDP1 | c.1324C>A (p.His442Asn) c.1399C>A (p.His467Asn) c.1378C>A (p.His460Asn) c.1486C>A (p.His496Asn) | |
| 8 | g.93923383C= | CA1803280929 | PDP1 | c.1324C= (p.His442=) c.1399C= (p.His467=) c.1378C= (p.His460=) c.1486C= (p.His496=) | |
| 8 | g.93923383C>G | CA371696643 | PDP1 | c.1324C>G (p.His442Asp) c.1399C>G (p.His467Asp) c.1378C>G (p.His460Asp) c.1486C>G (p.His496Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923383C>T | CA371696645 | PDP1 | c.1324C>T (p.His442Tyr) c.1399C>T (p.His467Tyr) c.1378C>T (p.His460Tyr) c.1486C>T (p.His496Tyr) | dbSNP gnomAD v4 |
| 8 | g.93923384A= | CA1803280930 | PDP1 | c.1325A= (p.His442=) c.1400A= (p.His467=) c.1379A= (p.His460=) c.1487A= (p.His496=) | |
| 8 | g.93923384A>C | CA371696648 | PDP1 | c.1325A>C (p.His442Pro) c.1400A>C (p.His467Pro) c.1379A>C (p.His460Pro) c.1487A>C (p.His496Pro) | dbSNP |
| 8 | g.93923384A>G | CA371696650 | PDP1 | c.1325A>G (p.His442Arg) c.1400A>G (p.His467Arg) c.1379A>G (p.His460Arg) c.1487A>G (p.His496Arg) | |
| 8 | g.93923384A>T | CA371696651 | PDP1 | c.1325A>T (p.His442Leu) c.1400A>T (p.His467Leu) c.1379A>T (p.His460Leu) c.1487A>T (p.His496Leu) | dbSNP gnomAD v4 |
| 8 | g.93923385C>A | CA371696653 | PDP1 | c.1326C>A (p.His442Gln) c.1401C>A (p.His467Gln) c.1380C>A (p.His460Gln) c.1488C>A (p.His496Gln) | gnomAD v4 |
| 8 | g.93923385C>G | CA371696654 | PDP1 | c.1326C>G (p.His442Gln) c.1401C>G (p.His467Gln) c.1380C>G (p.His460Gln) c.1488C>G (p.His496Gln) | |
| 8 | g.93923385C>T | CA462118185 | PDP1 | c.1326C>T (p.His442=) c.1401C>T (p.His467=) c.1380C>T (p.His460=) c.1488C>T (p.His496=) | gnomAD v4 |
| 8 | g.93923386C>A | CA371696657 | PDP1 | c.1327C>A (p.Gln443Lys) c.1402C>A (p.Gln468Lys) c.1381C>A (p.Gln461Lys) c.1489C>A (p.Gln497Lys) | |
| 8 | g.93923386C>G | CA371696658 | PDP1 | c.1327C>G (p.Gln443Glu) c.1402C>G (p.Gln468Glu) c.1381C>G (p.Gln461Glu) c.1489C>G (p.Gln497Glu) | |
| 8 | g.93923386C>T | CA371696660 | PDP1 | c.1327C>T (p.Gln443Ter) c.1402C>T (p.Gln468Ter) c.1381C>T (p.Gln461Ter) c.1489C>T (p.Gln497Ter) | |
| 8 | g.93923388_93923390del | CA645553496 | PDP1 | c.1329_1331del (p.Gln444del) c.1404_1406del (p.Gln469del) c.1383_1385del (p.Gln462del) c.1491_1493del (p.Gln498del) | COSMIC COSMIC |
| 8 | g.93923387A>C | CA371696661 | PDP1 | c.1328A>C (p.Gln443Pro) c.1403A>C (p.Gln468Pro) c.1382A>C (p.Gln461Pro) c.1490A>C (p.Gln497Pro) | |
| 8 | g.93923387A>G | CA371696664 | PDP1 | c.1328A>G (p.Gln443Arg) c.1403A>G (p.Gln468Arg) c.1382A>G (p.Gln461Arg) c.1490A>G (p.Gln497Arg) | |
| 8 | g.93923387A>T | CA371696662 | PDP1 | c.1328A>T (p.Gln443Leu) c.1403A>T (p.Gln468Leu) c.1382A>T (p.Gln461Leu) c.1490A>T (p.Gln497Leu) | |
| 8 | g.93923388A= | CA1803280931 | PDP1 | c.1329A= (p.Gln443=) c.1404A= (p.Gln468=) c.1383A= (p.Gln461=) c.1491A= (p.Gln497=) | |
| 8 | g.93923388A>C | CA4808810 | PDP1 | c.1329A>C (p.Gln443His) c.1404A>C (p.Gln468His) c.1383A>C (p.Gln461His) c.1491A>C (p.Gln497His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923388A>G | CA462118186 | PDP1 | c.1329A>G (p.Gln443=) c.1404A>G (p.Gln468=) c.1383A>G (p.Gln461=) c.1491A>G (p.Gln497=) | dbSNP |
| 8 | g.93923388A>T | CA371696672 | PDP1 | c.1329A>T (p.Gln443His) c.1404A>T (p.Gln468His) c.1383A>T (p.Gln461His) c.1491A>T (p.Gln497His) | |
| 8 | g.93923389C>A | CA371696674 | PDP1 | c.1330C>A (p.Gln444Lys) c.1405C>A (p.Gln469Lys) c.1384C>A (p.Gln462Lys) c.1492C>A (p.Gln498Lys) | |
| 8 | g.93923389C>G | CA371696675 | PDP1 | c.1330C>G (p.Gln444Glu) c.1405C>G (p.Gln469Glu) c.1384C>G (p.Gln462Glu) c.1492C>G (p.Gln498Glu) | |
| 8 | g.93923389C>T | CA371696677 | PDP1 | c.1330C>T (p.Gln444Ter) c.1405C>T (p.Gln469Ter) c.1384C>T (p.Gln462Ter) c.1492C>T (p.Gln498Ter) | |
| 8 | g.93923390A>C | CA371696679 | PDP1 | c.1331A>C (p.Gln444Pro) c.1406A>C (p.Gln469Pro) c.1385A>C (p.Gln462Pro) c.1493A>C (p.Gln498Pro) | |
| 8 | g.93923390A>G | CA371696681 | PDP1 | c.1331A>G (p.Gln444Arg) c.1406A>G (p.Gln469Arg) c.1385A>G (p.Gln462Arg) c.1493A>G (p.Gln498Arg) | |
| 8 | g.93923390A>T | CA371696682 | PDP1 | c.1331A>T (p.Gln444Leu) c.1406A>T (p.Gln469Leu) c.1385A>T (p.Gln462Leu) c.1493A>T (p.Gln498Leu) | |
| 8 | g.93923391G>A | CA462118187 | PDP1 | c.1332G>A (p.Gln444=) c.1407G>A (p.Gln469=) c.1386G>A (p.Gln462=) c.1494G>A (p.Gln498=) | dbSNP COSMIC COSMIC |
| 8 | g.93923391G>C | CA371696684 | PDP1 | c.1332G>C (p.Gln444His) c.1407G>C (p.Gln469His) c.1386G>C (p.Gln462His) c.1494G>C (p.Gln498His) | |
| 8 | g.93923391G= | CA1803280932 | PDP1 | c.1332G= (p.Gln444=) c.1407G= (p.Gln469=) c.1386G= (p.Gln462=) c.1494G= (p.Gln498=) | |
| 8 | g.93923391G>T | CA371696685 | PDP1 | c.1332G>T (p.Gln444His) c.1407G>T (p.Gln469His) c.1386G>T (p.Gln462His) c.1494G>T (p.Gln498His) | |
| 8 | g.93923392C>A | CA371696689 | PDP1 | c.1333C>A (p.Pro445Thr) c.1408C>A (p.Pro470Thr) c.1387C>A (p.Pro463Thr) c.1495C>A (p.Pro499Thr) | |
| 8 | g.93923392C>G | CA371696691 | PDP1 | c.1333C>G (p.Pro445Ala) c.1408C>G (p.Pro470Ala) c.1387C>G (p.Pro463Ala) c.1495C>G (p.Pro499Ala) | |
| 8 | g.93923392C>T | CA371696687 | PDP1 | c.1333C>T (p.Pro445Ser) c.1408C>T (p.Pro470Ser) c.1387C>T (p.Pro463Ser) c.1495C>T (p.Pro499Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.93923393C>A | CA371696696 | PDP1 | c.1334C>A (p.Pro445Gln) c.1409C>A (p.Pro470Gln) c.1388C>A (p.Pro463Gln) c.1496C>A (p.Pro499Gln) | |
| 8 | g.93923393C>G | CA371696692 | PDP1 | c.1334C>G (p.Pro445Arg) c.1409C>G (p.Pro470Arg) c.1388C>G (p.Pro463Arg) c.1496C>G (p.Pro499Arg) | gnomAD v4 |
| 8 | g.93923393C>T | CA371696694 | PDP1 | c.1334C>T (p.Pro445Leu) c.1409C>T (p.Pro470Leu) c.1388C>T (p.Pro463Leu) c.1496C>T (p.Pro499Leu) | gnomAD v4 |
| 8 | g.93923394A= | CA1803280933 | PDP1 | c.1335A= (p.Pro445=) c.1410A= (p.Pro470=) c.1389A= (p.Pro463=) c.1497A= (p.Pro499=) | |
| 8 | g.93923394A>C | CA462118188 | PDP1 | c.1335A>C (p.Pro445=) c.1410A>C (p.Pro470=) c.1389A>C (p.Pro463=) c.1497A>C (p.Pro499=) | |
| 8 | g.93923394A>G | CA462118189 | PDP1 | c.1335A>G (p.Pro445=) c.1410A>G (p.Pro470=) c.1389A>G (p.Pro463=) c.1497A>G (p.Pro499=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923394A>T | CA462118190 | PDP1 | c.1335A>T (p.Pro445=) c.1410A>T (p.Pro470=) c.1389A>T (p.Pro463=) c.1497A>T (p.Pro499=) | |
| 8 | g.93923395_93923397del | CA2687927873 | PDP1 | c.1336_1338del (p.Ile446del) c.1411_1413del (p.Ile471del) c.1390_1392del (p.Ile464del) c.1498_1500del (p.Ile500del) | gnomAD v4 |
| 8 | g.93923394_93923395insCACCCAAACACACCCAACAC | CA2781329141 | PDP1 | c.1335_1336insCACCCAAACACACCCAACAC (p.Ile446HisfsTer8) c.1410_1411insCACCCAAACACACCCAACAC (p.Ile471HisfsTer8) c.1389_1390insCACCCAAACACACCCAACAC (p.Ile464HisfsTer8) c.1497_1498insCACCCAAACACACCCAACAC (p.Ile500HisfsTer8) | |
| 8 | g.93923395A= | CA1803280934 | PDP1 | c.1336A= (p.Ile446=) c.1411A= (p.Ile471=) c.1390A= (p.Ile464=) c.1498A= (p.Ile500=) | |
| 8 | g.93923395A>C | CA371696698 | PDP1 | c.1336A>C (p.Ile446Leu) c.1411A>C (p.Ile471Leu) c.1390A>C (p.Ile464Leu) c.1498A>C (p.Ile500Leu) | |
| 8 | g.93923395A>G | CA371696700 | PDP1 | c.1336A>G (p.Ile446Val) c.1411A>G (p.Ile471Val) c.1390A>G (p.Ile464Val) c.1498A>G (p.Ile500Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923395A>T | CA371696701 | PDP1 | c.1336A>T (p.Ile446Leu) c.1411A>T (p.Ile471Leu) c.1390A>T (p.Ile464Leu) c.1498A>T (p.Ile500Leu) | gnomAD v4 |
| 8 | g.93923396T>A | CA371696704 | PDP1 | c.1337T>A (p.Ile446Lys) c.1412T>A (p.Ile471Lys) c.1391T>A (p.Ile464Lys) c.1499T>A (p.Ile500Lys) | |
| 8 | g.93923396T>C | CA371696706 | PDP1 | c.1337T>C (p.Ile446Thr) c.1412T>C (p.Ile471Thr) c.1391T>C (p.Ile464Thr) c.1499T>C (p.Ile500Thr) | |
| 8 | g.93923396T>G | CA371696707 | PDP1 | c.1337T>G (p.Ile446Arg) c.1412T>G (p.Ile471Arg) c.1391T>G (p.Ile464Arg) c.1499T>G (p.Ile500Arg) | |
| 8 | g.93923397A>C | CA462118191 | PDP1 | c.1338A>C (p.Ile446=) c.1413A>C (p.Ile471=) c.1392A>C (p.Ile464=) c.1500A>C (p.Ile500=) | |
| 8 | g.93923397A>G | CA371696710 | PDP1 | c.1338A>G (p.Ile446Met) c.1413A>G (p.Ile471Met) c.1392A>G (p.Ile464Met) c.1500A>G (p.Ile500Met) | |
| 8 | g.93923397A>T | CA462118192 | PDP1 | c.1338A>T (p.Ile446=) c.1413A>T (p.Ile471=) c.1392A>T (p.Ile464=) c.1500A>T (p.Ile500=) | |
| 8 | g.93923398G>A | CA371696712 | PDP1 | c.1339G>A (p.Ala447Thr) c.1414G>A (p.Ala472Thr) c.1393G>A (p.Ala465Thr) c.1501G>A (p.Ala501Thr) | |
| 8 | g.93923398G>C | CA371696714 | PDP1 | c.1339G>C (p.Ala447Pro) c.1414G>C (p.Ala472Pro) c.1393G>C (p.Ala465Pro) c.1501G>C (p.Ala501Pro) | dbSNP gnomAD v4 |
| 8 | g.93923398G= | CA1803280935 | PDP1 | c.1339G= (p.Ala447=) c.1414G= (p.Ala472=) c.1393G= (p.Ala465=) c.1501G= (p.Ala501=) | |
| 8 | g.93923398G>T | CA371696716 | PDP1 | c.1339G>T (p.Ala447Ser) c.1414G>T (p.Ala472Ser) c.1393G>T (p.Ala465Ser) c.1501G>T (p.Ala501Ser) | |
| 8 | g.93923399C>A | CA371696721 | PDP1 | c.1340C>A (p.Ala447Asp) c.1415C>A (p.Ala472Asp) c.1394C>A (p.Ala465Asp) c.1502C>A (p.Ala501Asp) | |
| 8 | g.93923399C>G | CA371696722 | PDP1 | c.1340C>G (p.Ala447Gly) c.1415C>G (p.Ala472Gly) c.1394C>G (p.Ala465Gly) c.1502C>G (p.Ala501Gly) | |
| 8 | g.93923399C>T | CA371696719 | PDP1 | c.1340C>T (p.Ala447Val) c.1415C>T (p.Ala472Val) c.1394C>T (p.Ala465Val) c.1502C>T (p.Ala501Val) | |
| 8 | g.93923400T>A | CA462118193 | PDP1 | c.1341T>A (p.Ala447=) c.1416T>A (p.Ala472=) c.1395T>A (p.Ala465=) c.1503T>A (p.Ala501=) | |
| 8 | g.93923400T>C | CA462118194 | PDP1 | c.1341T>C (p.Ala447=) c.1416T>C (p.Ala472=) c.1395T>C (p.Ala465=) c.1503T>C (p.Ala501=) | |
| 8 | g.93923400T>G | CA4808811 | PDP1 | c.1341T>G (p.Ala447=) c.1416T>G (p.Ala472=) c.1395T>G (p.Ala465=) c.1503T>G (p.Ala501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923400T= | CA1803280936 | PDP1 | c.1341T= (p.Ala447=) c.1416T= (p.Ala472=) c.1395T= (p.Ala465=) c.1503T= (p.Ala501=) | |
| 8 | g.93923401G>A | CA181376179 | PDP1 | c.1342G>A (p.Val448Ile) c.1417G>A (p.Val473Ile) c.1396G>A (p.Val466Ile) c.1504G>A (p.Val502Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923401G>C | CA371696727 | PDP1 | c.1342G>C (p.Val448Leu) c.1417G>C (p.Val473Leu) c.1396G>C (p.Val466Leu) c.1504G>C (p.Val502Leu) | |
| 8 | g.93923401G= | CA1803280937 | PDP1 | c.1342G= (p.Val448=) c.1417G= (p.Val473=) c.1396G= (p.Val466=) c.1504G= (p.Val502=) | |
| 8 | g.93923401G>T | CA371696729 | PDP1 | c.1342G>T (p.Val448Phe) c.1417G>T (p.Val473Phe) c.1396G>T (p.Val466Phe) c.1504G>T (p.Val502Phe) | |
| 8 | g.93923402T>A | CA371696732 | PDP1 | c.1343T>A (p.Val448Asp) c.1418T>A (p.Val473Asp) c.1397T>A (p.Val466Asp) c.1505T>A (p.Val502Asp) | |
| 8 | g.93923402T>C | CA371696731 | PDP1 | c.1343T>C (p.Val448Ala) c.1418T>C (p.Val473Ala) c.1397T>C (p.Val466Ala) c.1505T>C (p.Val502Ala) | |
| 8 | g.93923402T>G | CA371696730 | PDP1 | c.1343T>G (p.Val448Gly) c.1418T>G (p.Val473Gly) c.1397T>G (p.Val466Gly) c.1505T>G (p.Val502Gly) | |
| 8 | g.93923403T>A | CA462118195 | PDP1 | c.1344T>A (p.Val448=) c.1419T>A (p.Val473=) c.1398T>A (p.Val466=) c.1506T>A (p.Val502=) | |
| 8 | g.93923403T>C | CA462118197 | PDP1 | c.1344T>C (p.Val448=) c.1419T>C (p.Val473=) c.1398T>C (p.Val466=) c.1506T>C (p.Val502=) | |
| 8 | g.93923403T>G | CA462118196 | PDP1 | c.1344T>G (p.Val448=) c.1419T>G (p.Val473=) c.1398T>G (p.Val466=) c.1506T>G (p.Val502=) | |
| 8 | g.93923404G>A | CA371696733 | PDP1 | c.1345G>A (p.Gly449Ser) c.1420G>A (p.Gly474Ser) c.1399G>A (p.Gly467Ser) c.1507G>A (p.Gly503Ser) | |
| 8 | g.93923404G>C | CA371696734 | PDP1 | c.1345G>C (p.Gly449Arg) c.1420G>C (p.Gly474Arg) c.1399G>C (p.Gly467Arg) c.1507G>C (p.Gly503Arg) | gnomAD v4 |
| 8 | g.93923404G>T | CA371696735 | PDP1 | c.1345G>T (p.Gly449Cys) c.1420G>T (p.Gly474Cys) c.1399G>T (p.Gly467Cys) c.1507G>T (p.Gly503Cys) | |
| 8 | g.93923405G>A | CA371696737 | PDP1 | c.1346G>A (p.Gly449Asp) c.1421G>A (p.Gly474Asp) c.1400G>A (p.Gly467Asp) c.1508G>A (p.Gly503Asp) | ClinVar gnomAD v4 |
| 8 | g.93923405G>C | CA371696738 | PDP1 | c.1346G>C (p.Gly449Ala) c.1421G>C (p.Gly474Ala) c.1400G>C (p.Gly467Ala) c.1508G>C (p.Gly503Ala) | |
| 8 | g.93923405G>T | CA371696741 | PDP1 | c.1346G>T (p.Gly449Val) c.1421G>T (p.Gly474Val) c.1400G>T (p.Gly467Val) c.1508G>T (p.Gly503Val) | gnomAD v4 |
| 8 | g.93923406T>A | CA462118198 | PDP1 | c.1347T>A (p.Gly449=) c.1422T>A (p.Gly474=) c.1401T>A (p.Gly467=) c.1509T>A (p.Gly503=) | |
| 8 | g.93923406T>C | CA462118199 | PDP1 | c.1347T>C (p.Gly449=) c.1422T>C (p.Gly474=) c.1401T>C (p.Gly467=) c.1509T>C (p.Gly503=) | |
| 8 | g.93923406T>G | CA462118200 | PDP1 | c.1347T>G (p.Gly449=) c.1422T>G (p.Gly474=) c.1401T>G (p.Gly467=) c.1509T>G (p.Gly503=) | |
| 8 | g.93923407G>A | CA371696752 | PDP1 | c.1348G>A (p.Gly450Ser) c.1423G>A (p.Gly475Ser) c.1402G>A (p.Gly468Ser) c.1510G>A (p.Gly504Ser) | gnomAD v4 |
| 8 | g.93923407G>C | CA371696749 | PDP1 | c.1348G>C (p.Gly450Arg) c.1423G>C (p.Gly475Arg) c.1402G>C (p.Gly468Arg) c.1510G>C (p.Gly504Arg) | |
| 8 | g.93923407G>T | CA371696745 | PDP1 | c.1348G>T (p.Gly450Cys) c.1423G>T (p.Gly475Cys) c.1402G>T (p.Gly468Cys) c.1510G>T (p.Gly504Cys) | |
| 8 | g.93923408G>A | CA371696757 | PDP1 | c.1349G>A (p.Gly450Asp) c.1424G>A (p.Gly475Asp) c.1403G>A (p.Gly468Asp) c.1511G>A (p.Gly504Asp) | |
| 8 | g.93923408G>C | CA371696759 | PDP1 | c.1349G>C (p.Gly450Ala) c.1424G>C (p.Gly475Ala) c.1403G>C (p.Gly468Ala) c.1511G>C (p.Gly504Ala) | |
| 8 | g.93923408G= | CA1803280938 | PDP1 | c.1349G= (p.Gly450=) c.1424G= (p.Gly475=) c.1403G= (p.Gly468=) c.1511G= (p.Gly504=) | |
| 8 | g.93923408G>T | CA371696760 | PDP1 | c.1349G>T (p.Gly450Val) c.1424G>T (p.Gly475Val) c.1403G>T (p.Gly468Val) c.1511G>T (p.Gly504Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923408_93923409insTGCATGCCAGTTAGGTACTCAC | CA2781329145 | PDP1 | c.1349_1350insTGCATGCCAGTTAGGTACTCAC (p.Tyr451AlafsTer31) c.1424_1425insTGCATGCCAGTTAGGTACTCAC (p.Tyr476AlafsTer31) c.1403_1404insTGCATGCCAGTTAGGTACTCAC (p.Tyr469AlafsTer31) c.1511_1512insTGCATGCCAGTTAGGTACTCAC (p.Tyr505AlafsTer31) | |
| 8 | g.93923409C>A | CA462118201 | PDP1 | c.1350C>A (p.Gly450=) c.1425C>A (p.Gly475=) c.1404C>A (p.Gly468=) c.1512C>A (p.Gly504=) | |
| 8 | g.93923409C= | CA1803280939 | PDP1 | c.1350C= (p.Gly450=) c.1425C= (p.Gly475=) c.1404C= (p.Gly468=) c.1512C= (p.Gly504=) | |
| 8 | g.93923409C>G | CA462118202 | PDP1 | c.1350C>G (p.Gly450=) c.1425C>G (p.Gly475=) c.1404C>G (p.Gly468=) c.1512C>G (p.Gly504=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923409C>T | CA462118203 | PDP1 | c.1350C>T (p.Gly450=) c.1425C>T (p.Gly475=) c.1404C>T (p.Gly468=) c.1512C>T (p.Gly504=) | |
| 8 | g.93923410T>A | CA371696763 | PDP1 | c.1351T>A (p.Tyr451Asn) c.1426T>A (p.Tyr476Asn) c.1405T>A (p.Tyr469Asn) c.1513T>A (p.Tyr505Asn) | |
| 8 | g.93923410T>C | CA371696767 | PDP1 | c.1351T>C (p.Tyr451His) c.1426T>C (p.Tyr476His) c.1405T>C (p.Tyr469His) c.1513T>C (p.Tyr505His) | gnomAD v4 |
| 8 | g.93923410T>G | CA371696768 | PDP1 | c.1351T>G (p.Tyr451Asp) c.1426T>G (p.Tyr476Asp) c.1405T>G (p.Tyr469Asp) c.1513T>G (p.Tyr505Asp) | |
| 8 | g.93923411A>C | CA371696774 | PDP1 | c.1352A>C (p.Tyr451Ser) c.1427A>C (p.Tyr476Ser) c.1406A>C (p.Tyr469Ser) c.1514A>C (p.Tyr505Ser) | |
| 8 | g.93923411A>G | CA371696770 | PDP1 | c.1352A>G (p.Tyr451Cys) c.1427A>G (p.Tyr476Cys) c.1406A>G (p.Tyr469Cys) c.1514A>G (p.Tyr505Cys) | |
| 8 | g.93923411A>T | CA371696773 | PDP1 | c.1352A>T (p.Tyr451Phe) c.1427A>T (p.Tyr476Phe) c.1406A>T (p.Tyr469Phe) c.1514A>T (p.Tyr505Phe) | |
| 8 | g.93923412C>A | CA371696775 | PDP1 | c.1353C>A (p.Tyr451Ter) c.1428C>A (p.Tyr476Ter) c.1407C>A (p.Tyr469Ter) c.1515C>A (p.Tyr505Ter) | |
| 8 | g.93923412C>G | CA371696778 | PDP1 | c.1353C>G (p.Tyr451Ter) c.1428C>G (p.Tyr476Ter) c.1407C>G (p.Tyr469Ter) c.1515C>G (p.Tyr505Ter) | |
| 8 | g.93923412C>T | CA462118204 | PDP1 | c.1353C>T (p.Tyr451=) c.1428C>T (p.Tyr476=) c.1407C>T (p.Tyr469=) c.1515C>T (p.Tyr505=) | |
| 8 | g.93923413A= | CA1803280940 | PDP1 | c.1354A= (p.Lys452=) c.1429A= (p.Lys477=) c.1408A= (p.Lys470=) c.1516A= (p.Lys506=) | |
| 8 | g.93923413A>C | CA371696780 | PDP1 | c.1354A>C (p.Lys452Gln) c.1429A>C (p.Lys477Gln) c.1408A>C (p.Lys470Gln) c.1516A>C (p.Lys506Gln) | dbSNP |
| 8 | g.93923413A>G | CA4808812 | PDP1 | c.1354A>G (p.Lys452Glu) c.1429A>G (p.Lys477Glu) c.1408A>G (p.Lys470Glu) c.1516A>G (p.Lys506Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923413A>T | CA371696781 | PDP1 | c.1354A>T (p.Lys452Ter) c.1429A>T (p.Lys477Ter) c.1408A>T (p.Lys470Ter) c.1516A>T (p.Lys506Ter) | |
| 8 | g.93923414A= | CA1803280941 | PDP1 | c.1355A= (p.Lys452=) c.1430A= (p.Lys477=) c.1409A= (p.Lys470=) c.1517A= (p.Lys506=) | |
| 8 | g.93923414A>C | CA371696782 | PDP1 | c.1355A>C (p.Lys452Thr) c.1430A>C (p.Lys477Thr) c.1409A>C (p.Lys470Thr) c.1517A>C (p.Lys506Thr) | ClinVar dbSNP |
| 8 | g.93923414A>G | CA4808813 | PDP1 | c.1355A>G (p.Lys452Arg) c.1430A>G (p.Lys477Arg) c.1409A>G (p.Lys470Arg) c.1517A>G (p.Lys506Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923414A>T | CA371696783 | PDP1 | c.1355A>T (p.Lys452Met) c.1430A>T (p.Lys477Met) c.1409A>T (p.Lys470Met) c.1517A>T (p.Lys506Met) | |
| 8 | g.93923415G>A | CA4808814 | PDP1 | c.1356G>A (p.Lys452=) c.1431G>A (p.Lys477=) c.1410G>A (p.Lys470=) c.1518G>A (p.Lys506=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923415G>C | CA371696786 | PDP1 | c.1356G>C (p.Lys452Asn) c.1431G>C (p.Lys477Asn) c.1410G>C (p.Lys470Asn) c.1518G>C (p.Lys506Asn) | |
| 8 | g.93923415G= | CA1803280942 | PDP1 | c.1356G= (p.Lys452=) c.1431G= (p.Lys477=) c.1410G= (p.Lys470=) c.1518G= (p.Lys506=) | |
| 8 | g.93923415G>T | CA371696787 | PDP1 | c.1356G>T (p.Lys452Asn) c.1431G>T (p.Lys477Asn) c.1410G>T (p.Lys470Asn) c.1518G>T (p.Lys506Asn) | |
| 8 | g.93923416G>A | CA371696788 | PDP1 | c.1357G>A (p.Val453Met) c.1432G>A (p.Val478Met) c.1411G>A (p.Val471Met) c.1519G>A (p.Val507Met) | |
| 8 | g.93923416G>C | CA371696789 | PDP1 | c.1357G>C (p.Val453Leu) c.1432G>C (p.Val478Leu) c.1411G>C (p.Val471Leu) c.1519G>C (p.Val507Leu) | |
| 8 | g.93923416G>T | CA371696790 | PDP1 | c.1357G>T (p.Val453Leu) c.1432G>T (p.Val478Leu) c.1411G>T (p.Val471Leu) c.1519G>T (p.Val507Leu) | gnomAD v4 |
| 8 | g.93923417T>A | CA371696791 | PDP1 | c.1358T>A (p.Val453Glu) c.1433T>A (p.Val478Glu) c.1412T>A (p.Val471Glu) c.1520T>A (p.Val507Glu) | |
| 8 | g.93923417T>C | CA371696792 | PDP1 | c.1358T>C (p.Val453Ala) c.1433T>C (p.Val478Ala) c.1412T>C (p.Val471Ala) c.1520T>C (p.Val507Ala) | |
| 8 | g.93923417T>G | CA371696795 | PDP1 | c.1358T>G (p.Val453Gly) c.1433T>G (p.Val478Gly) c.1412T>G (p.Val471Gly) c.1520T>G (p.Val507Gly) | dbSNP |
| 8 | g.93923417T= | CA1803280943 | PDP1 | c.1358T= (p.Val453=) c.1433T= (p.Val478=) c.1412T= (p.Val471=) c.1520T= (p.Val507=) | |
| 8 | g.93923418G>A | CA462118205 | PDP1 | c.1359G>A (p.Val453=) c.1434G>A (p.Val478=) c.1413G>A (p.Val471=) c.1521G>A (p.Val507=) | |
| 8 | g.93923418G>C | CA462118206 | PDP1 | c.1359G>C (p.Val453=) c.1434G>C (p.Val478=) c.1413G>C (p.Val471=) c.1521G>C (p.Val507=) | |
| 8 | g.93923418G>T | CA462118207 | PDP1 | c.1359G>T (p.Val453=) c.1434G>T (p.Val478=) c.1413G>T (p.Val471=) c.1521G>T (p.Val507=) | |
| 8 | g.93923419A= | CA1803280944 | PDP1 | c.1360A= (p.Thr454=) c.1435A= (p.Thr479=) c.1414A= (p.Thr472=) c.1522A= (p.Thr508=) | |
| 8 | g.93923419A>C | CA371696796 | PDP1 | c.1360A>C (p.Thr454Pro) c.1435A>C (p.Thr479Pro) c.1414A>C (p.Thr472Pro) c.1522A>C (p.Thr508Pro) | |
| 8 | g.93923419A>G | CA371696797 | PDP1 | c.1360A>G (p.Thr454Ala) c.1435A>G (p.Thr479Ala) c.1414A>G (p.Thr472Ala) c.1522A>G (p.Thr508Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923419A>T | CA371696798 | PDP1 | c.1360A>T (p.Thr454Ser) c.1435A>T (p.Thr479Ser) c.1414A>T (p.Thr472Ser) c.1522A>T (p.Thr508Ser) | |
| 8 | g.93923420C>A | CA371696801 | PDP1 | c.1361C>A (p.Thr454Asn) c.1436C>A (p.Thr479Asn) c.1415C>A (p.Thr472Asn) c.1523C>A (p.Thr508Asn) | |
| 8 | g.93923420C>G | CA371696803 | PDP1 | c.1361C>G (p.Thr454Ser) c.1436C>G (p.Thr479Ser) c.1415C>G (p.Thr472Ser) c.1523C>G (p.Thr508Ser) | |
| 8 | g.93923420C>T | CA371696799 | PDP1 | c.1361C>T (p.Thr454Ile) c.1436C>T (p.Thr479Ile) c.1415C>T (p.Thr472Ile) c.1523C>T (p.Thr508Ile) | |
| 8 | g.93923421T>A | CA462118208 | PDP1 | c.1362T>A (p.Thr454=) c.1437T>A (p.Thr479=) c.1416T>A (p.Thr472=) c.1524T>A (p.Thr508=) | |
| 8 | g.93923421T>C | CA462118209 | PDP1 | c.1362T>C (p.Thr454=) c.1437T>C (p.Thr479=) c.1416T>C (p.Thr472=) c.1524T>C (p.Thr508=) | |
| 8 | g.93923421T>G | CA462118210 | PDP1 | c.1362T>G (p.Thr454=) c.1437T>G (p.Thr479=) c.1416T>G (p.Thr472=) c.1524T>G (p.Thr508=) | |
| 8 | g.93923422C>A | CA371696805 | PDP1 | c.1363C>A (p.Leu455Met) c.1438C>A (p.Leu480Met) c.1417C>A (p.Leu473Met) c.1525C>A (p.Leu509Met) | |
| 8 | g.93923422C= | CA1803280945 | PDP1 | c.1363C= (p.Leu455=) c.1438C= (p.Leu480=) c.1417C= (p.Leu473=) c.1525C= (p.Leu509=) | |
| 8 | g.93923422C>G | CA4808815 | PDP1 | c.1363C>G (p.Leu455Val) c.1438C>G (p.Leu480Val) c.1417C>G (p.Leu473Val) c.1525C>G (p.Leu509Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923422C>T | CA462118211 | PDP1 | c.1363C>T (p.Leu455=) c.1438C>T (p.Leu480=) c.1417C>T (p.Leu473=) c.1525C>T (p.Leu509=) | |
| 8 | g.93923423T>A | CA371696806 | PDP1 | c.1364T>A (p.Leu455Gln) c.1439T>A (p.Leu480Gln) c.1418T>A (p.Leu473Gln) c.1526T>A (p.Leu509Gln) | |
| 8 | g.93923423T>C | CA371696809 | PDP1 | c.1364T>C (p.Leu455Pro) c.1439T>C (p.Leu480Pro) c.1418T>C (p.Leu473Pro) c.1526T>C (p.Leu509Pro) | |
| 8 | g.93923423T>G | CA371696811 | PDP1 | c.1364T>G (p.Leu455Arg) c.1439T>G (p.Leu480Arg) c.1418T>G (p.Leu473Arg) c.1526T>G (p.Leu509Arg) | gnomAD v4 |
| 8 | g.93923424G>A | CA462118212 | PDP1 | c.1365G>A (p.Leu455=) c.1440G>A (p.Leu480=) c.1419G>A (p.Leu473=) c.1527G>A (p.Leu509=) | dbSNP |
| 8 | g.93923424G>C | CA462118213 | PDP1 | c.1365G>C (p.Leu455=) c.1440G>C (p.Leu480=) c.1419G>C (p.Leu473=) c.1527G>C (p.Leu509=) | |
| 8 | g.93923424G= | CA1803280946 | PDP1 | c.1365G= (p.Leu455=) c.1440G= (p.Leu480=) c.1419G= (p.Leu473=) c.1527G= (p.Leu509=) | |
| 8 | g.93923424G>T | CA462118214 | PDP1 | c.1365G>T (p.Leu455=) c.1440G>T (p.Leu480=) c.1419G>T (p.Leu473=) c.1527G>T (p.Leu509=) | |
| 8 | g.93923425G>A | CA4808816 | PDP1 | c.1366G>A (p.Gly456Arg) c.1441G>A (p.Gly481Arg) c.1420G>A (p.Gly474Arg) c.1528G>A (p.Gly510Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923425G>C | CA371696814 | PDP1 | c.1366G>C (p.Gly456Arg) c.1441G>C (p.Gly481Arg) c.1420G>C (p.Gly474Arg) c.1528G>C (p.Gly510Arg) | |
| 8 | g.93923425G= | CA1803280947 | PDP1 | c.1366G= (p.Gly456=) c.1441G= (p.Gly481=) c.1420G= (p.Gly474=) c.1528G= (p.Gly510=) | |
| 8 | g.93923425G>T | CA371696817 | PDP1 | c.1366G>T (p.Gly456Ter) c.1441G>T (p.Gly481Ter) c.1420G>T (p.Gly474Ter) c.1528G>T (p.Gly510Ter) | |
| 8 | g.93923426G>A | CA371696819 | PDP1 | c.1367G>A (p.Gly456Glu) c.1442G>A (p.Gly481Glu) c.1421G>A (p.Gly474Glu) c.1529G>A (p.Gly510Glu) | |
| 8 | g.93923426G>C | CA371696820 | PDP1 | c.1367G>C (p.Gly456Ala) c.1442G>C (p.Gly481Ala) c.1421G>C (p.Gly474Ala) c.1529G>C (p.Gly510Ala) | |
| 8 | g.93923426G>T | CA371696822 | PDP1 | c.1367G>T (p.Gly456Val) c.1442G>T (p.Gly481Val) c.1421G>T (p.Gly474Val) c.1529G>T (p.Gly510Val) | |
| 8 | g.93923427A>C | CA462118215 | PDP1 | c.1368A>C (p.Gly456=) c.1443A>C (p.Gly481=) c.1422A>C (p.Gly474=) c.1530A>C (p.Gly510=) | |
| 8 | g.93923427A>G | CA462118216 | PDP1 | c.1368A>G (p.Gly456=) c.1443A>G (p.Gly481=) c.1422A>G (p.Gly474=) c.1530A>G (p.Gly510=) | |
| 8 | g.93923427A>T | CA462118217 | PDP1 | c.1368A>T (p.Gly456=) c.1443A>T (p.Gly481=) c.1422A>T (p.Gly474=) c.1530A>T (p.Gly510=) | |
| 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=) |