Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93923291A= | CA1803280896 | PDP1 | c.1232A= (p.Lys411=) c.1307A= (p.Lys436=) c.1286A= (p.Lys429=) c.1394A= (p.Lys465=) | |
8 | g.93923291A>C | CA371696314 | PDP1 | c.1232A>C (p.Lys411Thr) c.1307A>C (p.Lys436Thr) c.1286A>C (p.Lys429Thr) c.1394A>C (p.Lys465Thr) | |
8 | g.93923291A>G | CA371696315 | PDP1 | c.1232A>G (p.Lys411Arg) c.1307A>G (p.Lys436Arg) c.1286A>G (p.Lys429Arg) c.1394A>G (p.Lys465Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923291A>T | CA371696316 | PDP1 | c.1232A>T (p.Lys411Met) c.1307A>T (p.Lys436Met) c.1286A>T (p.Lys429Met) c.1394A>T (p.Lys465Met) | |
8 | g.93923292G>A | CA181376095 | PDP1 | c.1233G>A (p.Lys411=) c.1308G>A (p.Lys436=) c.1287G>A (p.Lys429=) c.1395G>A (p.Lys465=) | ClinVar dbSNP gnomAD v4 |
8 | g.93923292G>C | CA371696317 | PDP1 | c.1233G>C (p.Lys411Asn) c.1308G>C (p.Lys436Asn) c.1287G>C (p.Lys429Asn) c.1395G>C (p.Lys465Asn) | |
8 | g.93923292G= | CA1803280897 | PDP1 | c.1233G= (p.Lys411=) c.1308G= (p.Lys436=) c.1287G= (p.Lys429=) c.1395G= (p.Lys465=) | |
8 | g.93923292G>T | CA371696318 | PDP1 | c.1233G>T (p.Lys411Asn) c.1308G>T (p.Lys436Asn) c.1287G>T (p.Lys429Asn) c.1395G>T (p.Lys465Asn) | |
8 | g.93923293T>A | CA371696319 | PDP1 | c.1234T>A (p.Phe412Ile) c.1309T>A (p.Phe437Ile) c.1288T>A (p.Phe430Ile) c.1396T>A (p.Phe466Ile) | |
8 | g.93923293T>C | CA371696320 | PDP1 | c.1234T>C (p.Phe412Leu) c.1309T>C (p.Phe437Leu) c.1288T>C (p.Phe430Leu) c.1396T>C (p.Phe466Leu) | |
8 | g.93923293T>G | CA371696321 | PDP1 | c.1234T>G (p.Phe412Val) c.1309T>G (p.Phe437Val) c.1288T>G (p.Phe430Val) c.1396T>G (p.Phe466Val) | |
8 | g.93923294T>A | CA371696324 | PDP1 | c.1235T>A (p.Phe412Tyr) c.1310T>A (p.Phe437Tyr) c.1289T>A (p.Phe430Tyr) c.1397T>A (p.Phe466Tyr) | |
8 | g.93923294T>C | CA371696323 | PDP1 | c.1235T>C (p.Phe412Ser) c.1310T>C (p.Phe437Ser) c.1289T>C (p.Phe430Ser) c.1397T>C (p.Phe466Ser) | |
8 | g.93923294T>G | CA371696322 | PDP1 | c.1235T>G (p.Phe412Cys) c.1310T>G (p.Phe437Cys) c.1289T>G (p.Phe430Cys) c.1397T>G (p.Phe466Cys) | |
8 | g.93923295T>A | CA371696325 | PDP1 | c.1236T>A (p.Phe412Leu) c.1311T>A (p.Phe437Leu) c.1290T>A (p.Phe430Leu) c.1398T>A (p.Phe466Leu) | |
8 | g.93923295T>C | CA462118115 | PDP1 | c.1236T>C (p.Phe412=) c.1311T>C (p.Phe437=) c.1290T>C (p.Phe430=) c.1398T>C (p.Phe466=) | |
8 | g.93923295T>G | CA371696326 | PDP1 | c.1236T>G (p.Phe412Leu) c.1311T>G (p.Phe437Leu) c.1290T>G (p.Phe430Leu) c.1398T>G (p.Phe466Leu) | |
8 | g.93923296C>A | CA371696327 | PDP1 | c.1237C>A (p.Leu413Met) c.1312C>A (p.Leu438Met) c.1291C>A (p.Leu431Met) c.1399C>A (p.Leu467Met) | |
8 | g.93923296C>G | CA371696328 | PDP1 | c.1237C>G (p.Leu413Val) c.1312C>G (p.Leu438Val) c.1291C>G (p.Leu431Val) c.1399C>G (p.Leu467Val) | |
8 | g.93923296C>T | CA462118116 | PDP1 | c.1237C>T (p.Leu413=) c.1312C>T (p.Leu438=) c.1291C>T (p.Leu431=) c.1399C>T (p.Leu467=) | |
8 | g.93923297T>A | CA371696329 | PDP1 | c.1238T>A (p.Leu413Gln) c.1313T>A (p.Leu438Gln) c.1292T>A (p.Leu431Gln) c.1400T>A (p.Leu467Gln) | |
8 | g.93923297T>C | CA371696330 | PDP1 | c.1238T>C (p.Leu413Pro) c.1313T>C (p.Leu438Pro) c.1292T>C (p.Leu431Pro) c.1400T>C (p.Leu467Pro) | gnomAD v4 |
8 | g.93923297T>G | CA371696331 | PDP1 | c.1238T>G (p.Leu413Arg) c.1313T>G (p.Leu438Arg) c.1292T>G (p.Leu431Arg) c.1400T>G (p.Leu467Arg) | |
8 | g.93923298G>A | CA462118118 | PDP1 | c.1239G>A (p.Leu413=) c.1314G>A (p.Leu438=) c.1293G>A (p.Leu431=) c.1401G>A (p.Leu467=) | |
8 | g.93923298G>C | CA462118120 | PDP1 | c.1239G>C (p.Leu413=) c.1314G>C (p.Leu438=) c.1293G>C (p.Leu431=) c.1401G>C (p.Leu467=) | |
8 | g.93923298G>T | CA462118122 | PDP1 | c.1239G>T (p.Leu413=) c.1314G>T (p.Leu438=) c.1293G>T (p.Leu431=) c.1401G>T (p.Leu467=) | |
8 | g.93923299G>A | CA371696332 | PDP1 | c.1240G>A (p.Val414Met) c.1315G>A (p.Val439Met) c.1294G>A (p.Val432Met) c.1402G>A (p.Val468Met) | |
8 | g.93923299G>C | CA371696333 | PDP1 | c.1240G>C (p.Val414Leu) c.1315G>C (p.Val439Leu) c.1294G>C (p.Val432Leu) c.1402G>C (p.Val468Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923299G= | CA1803280898 | PDP1 | c.1240G= (p.Val414=) c.1315G= (p.Val439=) c.1294G= (p.Val432=) c.1402G= (p.Val468=) | |
8 | g.93923299G>T | CA371696334 | PDP1 | c.1240G>T (p.Val414Leu) c.1315G>T (p.Val439Leu) c.1294G>T (p.Val432Leu) c.1402G>T (p.Val468Leu) | |
8 | g.93923300T>A | CA371696335 | PDP1 | c.1241T>A (p.Val414Glu) c.1316T>A (p.Val439Glu) c.1295T>A (p.Val432Glu) c.1403T>A (p.Val468Glu) | |
8 | g.93923300T>C | CA371696336 | PDP1 | c.1241T>C (p.Val414Ala) c.1316T>C (p.Val439Ala) c.1295T>C (p.Val432Ala) c.1403T>C (p.Val468Ala) | |
8 | g.93923300T>G | CA371696337 | PDP1 | c.1241T>G (p.Val414Gly) c.1316T>G (p.Val439Gly) c.1295T>G (p.Val432Gly) c.1403T>G (p.Val468Gly) | |
8 | g.93923301G>A | CA4808797 | PDP1 | c.1242G>A (p.Val414=) c.1317G>A (p.Val439=) c.1296G>A (p.Val432=) c.1404G>A (p.Val468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923301G>C | CA462118123 | PDP1 | c.1242G>C (p.Val414=) c.1317G>C (p.Val439=) c.1296G>C (p.Val432=) c.1404G>C (p.Val468=) | |
8 | g.93923301G= | CA1803280899 | PDP1 | c.1242G= (p.Val414=) c.1317G= (p.Val439=) c.1296G= (p.Val432=) c.1404G= (p.Val468=) | |
8 | g.93923301G>T | CA462118124 | PDP1 | c.1242G>T (p.Val414=) c.1317G>T (p.Val439=) c.1296G>T (p.Val432=) c.1404G>T (p.Val468=) | |
8 | g.93923302T>A | CA371696339 | PDP1 | c.1243T>A (p.Leu415Met) c.1318T>A (p.Leu440Met) c.1297T>A (p.Leu433Met) c.1405T>A (p.Leu469Met) | |
8 | g.93923302T>C | CA462118125 | PDP1 | c.1243T>C (p.Leu415=) c.1318T>C (p.Leu440=) c.1297T>C (p.Leu433=) c.1405T>C (p.Leu469=) | |
8 | g.93923302T>G | CA371696338 | PDP1 | c.1243T>G (p.Leu415Val) c.1318T>G (p.Leu440Val) c.1297T>G (p.Leu433Val) c.1405T>G (p.Leu469Val) | |
8 | g.93923303T>A | CA371696340 | PDP1 | c.1244T>A (p.Leu415Ter) c.1319T>A (p.Leu440Ter) c.1298T>A (p.Leu433Ter) c.1406T>A (p.Leu469Ter) | |
8 | g.93923303T>C | CA371696341 | PDP1 | c.1244T>C (p.Leu415Ser) c.1319T>C (p.Leu440Ser) c.1298T>C (p.Leu433Ser) c.1406T>C (p.Leu469Ser) | |
8 | g.93923303T>G | CA371696342 | PDP1 | c.1244T>G (p.Leu415Trp) c.1319T>G (p.Leu440Trp) c.1298T>G (p.Leu433Trp) c.1406T>G (p.Leu469Trp) | |
8 | g.93923304G>A | CA462118127 | PDP1 | c.1245G>A (p.Leu415=) c.1320G>A (p.Leu440=) c.1299G>A (p.Leu433=) c.1407G>A (p.Leu469=) | |
8 | g.93923304G>C | CA371696343 | PDP1 | c.1245G>C (p.Leu415Phe) c.1320G>C (p.Leu440Phe) c.1299G>C (p.Leu433Phe) c.1407G>C (p.Leu469Phe) | |
8 | g.93923304G>T | CA371696344 | PDP1 | c.1245G>T (p.Leu415Phe) c.1320G>T (p.Leu440Phe) c.1299G>T (p.Leu433Phe) c.1407G>T (p.Leu469Phe) | |
8 | g.93923305G>A | CA371696345 | PDP1 | c.1246G>A (p.Ala416Thr) c.1321G>A (p.Ala441Thr) c.1300G>A (p.Ala434Thr) c.1408G>A (p.Ala470Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923305G>C | CA371696346 | PDP1 | c.1246G>C (p.Ala416Pro) c.1321G>C (p.Ala441Pro) c.1300G>C (p.Ala434Pro) c.1408G>C (p.Ala470Pro) | |
8 | g.93923305G= | CA1803280900 | PDP1 | c.1246G= (p.Ala416=) c.1321G= (p.Ala441=) c.1300G= (p.Ala434=) c.1408G= (p.Ala470=) | |
8 | g.93923305G>T | CA371696347 | PDP1 | c.1246G>T (p.Ala416Ser) c.1321G>T (p.Ala441Ser) c.1300G>T (p.Ala434Ser) c.1408G>T (p.Ala470Ser) | |
8 | g.93923306C>A | CA371696348 | PDP1 | c.1247C>A (p.Ala416Asp) c.1322C>A (p.Ala441Asp) c.1301C>A (p.Ala434Asp) c.1409C>A (p.Ala470Asp) | |
8 | g.93923306C>G | CA371696349 | PDP1 | c.1247C>G (p.Ala416Gly) c.1322C>G (p.Ala441Gly) c.1301C>G (p.Ala434Gly) c.1409C>G (p.Ala470Gly) | |
8 | g.93923306C>T | CA371696350 | PDP1 | c.1247C>T (p.Ala416Val) c.1322C>T (p.Ala441Val) c.1301C>T (p.Ala434Val) c.1409C>T (p.Ala470Val) | |
8 | g.93923307T>A | CA462118130 | PDP1 | c.1248T>A (p.Ala416=) c.1323T>A (p.Ala441=) c.1302T>A (p.Ala434=) c.1410T>A (p.Ala470=) | |
8 | g.93923307T>C | CA462118132 | PDP1 | c.1248T>C (p.Ala416=) c.1323T>C (p.Ala441=) c.1302T>C (p.Ala434=) c.1410T>C (p.Ala470=) | |
8 | g.93923307T>G | CA462118134 | PDP1 | c.1248T>G (p.Ala416=) c.1323T>G (p.Ala441=) c.1302T>G (p.Ala434=) c.1410T>G (p.Ala470=) | |
8 | g.93923308A>C | CA371696353 | PDP1 | c.1249A>C (p.Thr417Pro) c.1324A>C (p.Thr442Pro) c.1303A>C (p.Thr435Pro) c.1411A>C (p.Thr471Pro) | gnomAD v4 |
8 | g.93923308A>G | CA371696352 | PDP1 | c.1249A>G (p.Thr417Ala) c.1324A>G (p.Thr442Ala) c.1303A>G (p.Thr435Ala) c.1411A>G (p.Thr471Ala) | gnomAD v4 |
8 | g.93923308A>T | CA371696351 | PDP1 | c.1249A>T (p.Thr417Ser) c.1324A>T (p.Thr442Ser) c.1303A>T (p.Thr435Ser) c.1411A>T (p.Thr471Ser) | |
8 | g.93923309C>A | CA371696354 | PDP1 | c.1250C>A (p.Thr417Asn) c.1325C>A (p.Thr442Asn) c.1304C>A (p.Thr435Asn) c.1412C>A (p.Thr471Asn) | gnomAD v4 |
8 | g.93923309C>G | CA371696355 | PDP1 | c.1250C>G (p.Thr417Ser) c.1325C>G (p.Thr442Ser) c.1304C>G (p.Thr435Ser) c.1412C>G (p.Thr471Ser) | |
8 | g.93923309C>T | CA371696356 | PDP1 | c.1250C>T (p.Thr417Ile) c.1325C>T (p.Thr442Ile) c.1304C>T (p.Thr435Ile) c.1412C>T (p.Thr471Ile) | |
8 | g.93923310T>A | CA462118140 | PDP1 | c.1251T>A (p.Thr417=) c.1326T>A (p.Thr442=) c.1305T>A (p.Thr435=) c.1413T>A (p.Thr471=) | |
8 | g.93923310T>C | CA4808798 | PDP1 | c.1251T>C (p.Thr417=) c.1326T>C (p.Thr442=) c.1305T>C (p.Thr435=) c.1413T>C (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923310T>G | CA462118136 | PDP1 | c.1251T>G (p.Thr417=) c.1326T>G (p.Thr442=) c.1305T>G (p.Thr435=) c.1413T>G (p.Thr471=) | |
8 | g.93923310T= | CA1803280901 | PDP1 | c.1251T= (p.Thr417=) c.1326T= (p.Thr442=) c.1305T= (p.Thr435=) c.1413T= (p.Thr471=) | |
8 | g.93923311G>A | CA371696357 | PDP1 | c.1252G>A (p.Asp418Asn) c.1327G>A (p.Asp443Asn) c.1306G>A (p.Asp436Asn) c.1414G>A (p.Asp472Asn) | |
8 | g.93923311G>C | CA371696358 | PDP1 | c.1252G>C (p.Asp418His) c.1327G>C (p.Asp443His) c.1306G>C (p.Asp436His) c.1414G>C (p.Asp472His) | |
8 | g.93923311G>T | CA371696359 | PDP1 | c.1252G>T (p.Asp418Tyr) c.1327G>T (p.Asp443Tyr) c.1306G>T (p.Asp436Tyr) c.1414G>T (p.Asp472Tyr) | |
8 | g.93923312A>C | CA371696360 | PDP1 | c.1253A>C (p.Asp418Ala) c.1328A>C (p.Asp443Ala) c.1307A>C (p.Asp436Ala) c.1415A>C (p.Asp472Ala) | |
8 | g.93923312A>G | CA371696361 | PDP1 | c.1253A>G (p.Asp418Gly) c.1328A>G (p.Asp443Gly) c.1307A>G (p.Asp436Gly) c.1415A>G (p.Asp472Gly) | |
8 | g.93923312A>T | CA371696362 | PDP1 | c.1253A>T (p.Asp418Val) c.1328A>T (p.Asp443Val) c.1307A>T (p.Asp436Val) c.1415A>T (p.Asp472Val) | |
8 | g.93923313T>A | CA371696363 | PDP1 | c.1254T>A (p.Asp418Glu) c.1329T>A (p.Asp443Glu) c.1308T>A (p.Asp436Glu) c.1416T>A (p.Asp472Glu) | |
8 | g.93923313T>C | CA462118142 | PDP1 | c.1254T>C (p.Asp418=) c.1329T>C (p.Asp443=) c.1308T>C (p.Asp436=) c.1416T>C (p.Asp472=) | |
8 | g.93923313T>G | CA371696364 | PDP1 | c.1254T>G (p.Asp418Glu) c.1329T>G (p.Asp443Glu) c.1308T>G (p.Asp436Glu) c.1416T>G (p.Asp472Glu) | |
8 | g.93923314G>A | CA371696365 | PDP1 | c.1255G>A (p.Gly419Arg) c.1330G>A (p.Gly444Arg) c.1309G>A (p.Gly437Arg) c.1417G>A (p.Gly473Arg) | dbSNP |
8 | g.93923314G>C | CA371696367 | PDP1 | c.1255G>C (p.Gly419Arg) c.1330G>C (p.Gly444Arg) c.1309G>C (p.Gly437Arg) c.1417G>C (p.Gly473Arg) | |
8 | g.93923314G= | CA1803280902 | PDP1 | c.1255G= (p.Gly419=) c.1330G= (p.Gly444=) c.1309G= (p.Gly437=) c.1417G= (p.Gly473=) | |
8 | g.93923314G>T | CA371696366 | PDP1 | c.1255G>T (p.Gly419Trp) c.1330G>T (p.Gly444Trp) c.1309G>T (p.Gly437Trp) c.1417G>T (p.Gly473Trp) | |
8 | g.93923315G>A | CA371696368 | PDP1 | c.1256G>A (p.Gly419Glu) c.1331G>A (p.Gly444Glu) c.1310G>A (p.Gly437Glu) c.1418G>A (p.Gly473Glu) | |
8 | g.93923315G>C | CA371696370 | PDP1 | c.1256G>C (p.Gly419Ala) c.1331G>C (p.Gly444Ala) c.1310G>C (p.Gly437Ala) c.1418G>C (p.Gly473Ala) | |
8 | g.93923315G>T | CA371696369 | PDP1 | c.1256G>T (p.Gly419Val) c.1331G>T (p.Gly444Val) c.1310G>T (p.Gly437Val) c.1418G>T (p.Gly473Val) | |
8 | g.93923316G>A | CA462118148 | PDP1 | c.1257G>A (p.Gly419=) c.1332G>A (p.Gly444=) c.1311G>A (p.Gly437=) c.1419G>A (p.Gly473=) | |
8 | g.93923316G>C | CA462118144 | PDP1 | c.1257G>C (p.Gly419=) c.1332G>C (p.Gly444=) c.1311G>C (p.Gly437=) c.1419G>C (p.Gly473=) | |
8 | g.93923316G>T | CA462118146 | PDP1 | c.1257G>T (p.Gly419=) c.1332G>T (p.Gly444=) c.1311G>T (p.Gly437=) c.1419G>T (p.Gly473=) | |
8 | g.93923317T>A | CA371696371 | PDP1 | c.1258T>A (p.Leu420Met) c.1333T>A (p.Leu445Met) c.1312T>A (p.Leu438Met) c.1420T>A (p.Leu474Met) | |
8 | g.93923317T>C | CA181376113 | PDP1 | c.1258T>C (p.Leu420=) c.1333T>C (p.Leu445=) c.1312T>C (p.Leu438=) c.1420T>C (p.Leu474=) | dbSNP |
8 | g.93923317T>G | CA4808799 | PDP1 | c.1258T>G (p.Leu420Val) c.1333T>G (p.Leu445Val) c.1312T>G (p.Leu438Val) c.1420T>G (p.Leu474Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923317T= | CA1803280903 | PDP1 | c.1258T= (p.Leu420=) c.1333T= (p.Leu445=) c.1312T= (p.Leu438=) c.1420T= (p.Leu474=) | |
8 | g.93923318T>A | CA371696372 | PDP1 | c.1259T>A (p.Leu420Ter) c.1334T>A (p.Leu445Ter) c.1313T>A (p.Leu438Ter) c.1421T>A (p.Leu474Ter) | |
8 | g.93923318T>C | CA371696373 | PDP1 | c.1259T>C (p.Leu420Ser) c.1334T>C (p.Leu445Ser) c.1313T>C (p.Leu438Ser) c.1421T>C (p.Leu474Ser) | |
8 | g.93923318T>G | CA371696374 | PDP1 | c.1259T>G (p.Leu420Trp) c.1334T>G (p.Leu445Trp) c.1313T>G (p.Leu438Trp) c.1421T>G (p.Leu474Trp) | |
8 | g.93923319G>A | CA462118150 | PDP1 | c.1260G>A (p.Leu420=) c.1335G>A (p.Leu445=) c.1314G>A (p.Leu438=) c.1422G>A (p.Leu474=) | |
8 | g.93923319G>C | CA371696375 | PDP1 | c.1260G>C (p.Leu420Phe) c.1335G>C (p.Leu445Phe) c.1314G>C (p.Leu438Phe) c.1422G>C (p.Leu474Phe) | gnomAD v4 |
8 | g.93923319G>T | CA371696376 | PDP1 | c.1260G>T (p.Leu420Phe) c.1335G>T (p.Leu445Phe) c.1314G>T (p.Leu438Phe) c.1422G>T (p.Leu474Phe) | |
8 | g.93923320T>A | CA371696377 | PDP1 | c.1261T>A (p.Trp421Arg) c.1336T>A (p.Trp446Arg) c.1315T>A (p.Trp439Arg) c.1423T>A (p.Trp475Arg) | |
8 | g.93923320T>C | CA371696378 | PDP1 | c.1261T>C (p.Trp421Arg) c.1336T>C (p.Trp446Arg) c.1315T>C (p.Trp439Arg) c.1423T>C (p.Trp475Arg) | |
8 | g.93923320T>G | CA371696379 | PDP1 | c.1261T>G (p.Trp421Gly) c.1336T>G (p.Trp446Gly) c.1315T>G (p.Trp439Gly) c.1423T>G (p.Trp475Gly) | |
8 | g.93923321G>A | CA371696380 | PDP1 | c.1262G>A (p.Trp421Ter) c.1337G>A (p.Trp446Ter) c.1316G>A (p.Trp439Ter) c.1424G>A (p.Trp475Ter) | |
8 | g.93923321G>C | CA371696381 | PDP1 | c.1262G>C (p.Trp421Ser) c.1337G>C (p.Trp446Ser) c.1316G>C (p.Trp439Ser) c.1424G>C (p.Trp475Ser) | |
8 | g.93923321G>T | CA371696382 | PDP1 | c.1262G>T (p.Trp421Leu) c.1337G>T (p.Trp446Leu) c.1316G>T (p.Trp439Leu) c.1424G>T (p.Trp475Leu) | |
8 | g.93923322G>A | CA16605443 | PDP1 | c.1263G>A (p.Trp421Ter) c.1338G>A (p.Trp446Ter) c.1317G>A (p.Trp439Ter) c.1425G>A (p.Trp475Ter) | ClinVar dbSNP |
8 | g.93923322G>C | CA371696383 | PDP1 | c.1263G>C (p.Trp421Cys) c.1338G>C (p.Trp446Cys) c.1317G>C (p.Trp439Cys) c.1425G>C (p.Trp475Cys) | |
8 | g.93923322G= | CA1803280904 | PDP1 | c.1263G= (p.Trp421=) c.1338G= (p.Trp446=) c.1317G= (p.Trp439=) c.1425G= (p.Trp475=) | |
8 | g.93923322G>T | CA371696384 | PDP1 | c.1263G>T (p.Trp421Cys) c.1338G>T (p.Trp446Cys) c.1317G>T (p.Trp439Cys) c.1425G>T (p.Trp475Cys) | |
8 | g.93923323G>A | CA371696387 | PDP1 | c.1264G>A (p.Glu422Lys) c.1339G>A (p.Glu447Lys) c.1318G>A (p.Glu440Lys) c.1426G>A (p.Glu476Lys) | |
8 | g.93923323G>C | CA371696386 | PDP1 | c.1264G>C (p.Glu422Gln) c.1339G>C (p.Glu447Gln) c.1318G>C (p.Glu440Gln) c.1426G>C (p.Glu476Gln) | |
8 | g.93923323G>T | CA371696385 | PDP1 | c.1264G>T (p.Glu422Ter) c.1339G>T (p.Glu447Ter) c.1318G>T (p.Glu440Ter) c.1426G>T (p.Glu476Ter) | |
8 | g.93923324A>C | CA371696388 | PDP1 | c.1265A>C (p.Glu422Ala) c.1340A>C (p.Glu447Ala) c.1319A>C (p.Glu440Ala) c.1427A>C (p.Glu476Ala) | |
8 | g.93923324A>G | CA371696389 | PDP1 | c.1265A>G (p.Glu422Gly) c.1340A>G (p.Glu447Gly) c.1319A>G (p.Glu440Gly) c.1427A>G (p.Glu476Gly) | |
8 | g.93923324A>T | CA371696392 | PDP1 | c.1265A>T (p.Glu422Val) c.1340A>T (p.Glu447Val) c.1319A>T (p.Glu440Val) c.1427A>T (p.Glu476Val) | |
8 | g.93923325G>A | CA462118151 | PDP1 | c.1266G>A (p.Glu422=) c.1341G>A (p.Glu447=) c.1320G>A (p.Glu440=) c.1428G>A (p.Glu476=) | |
8 | g.93923325G>C | CA371696394 | PDP1 | c.1266G>C (p.Glu422Asp) c.1341G>C (p.Glu447Asp) c.1320G>C (p.Glu440Asp) c.1428G>C (p.Glu476Asp) | |
8 | g.93923325G>T | CA371696395 | PDP1 | c.1266G>T (p.Glu422Asp) c.1341G>T (p.Glu447Asp) c.1320G>T (p.Glu440Asp) c.1428G>T (p.Glu476Asp) | |
8 | g.93923326A= | CA1803280905 | PDP1 | c.1267A= (p.Thr423=) c.1342A= (p.Thr448=) c.1321A= (p.Thr441=) c.1429A= (p.Thr477=) | |
8 | g.93923326A>C | CA371696397 | PDP1 | c.1267A>C (p.Thr423Pro) c.1342A>C (p.Thr448Pro) c.1321A>C (p.Thr441Pro) c.1429A>C (p.Thr477Pro) | |
8 | g.93923326A>G | CA4808800 | PDP1 | c.1267A>G (p.Thr423Ala) c.1342A>G (p.Thr448Ala) c.1321A>G (p.Thr441Ala) c.1429A>G (p.Thr477Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923326A>T | CA371696399 | PDP1 | c.1267A>T (p.Thr423Ser) c.1342A>T (p.Thr448Ser) c.1321A>T (p.Thr441Ser) c.1429A>T (p.Thr477Ser) | |
8 | g.93923327C>A | CA371696401 | PDP1 | c.1268C>A (p.Thr423Asn) c.1343C>A (p.Thr448Asn) c.1322C>A (p.Thr441Asn) c.1430C>A (p.Thr477Asn) | ClinVar dbSNP |
8 | g.93923327C>G | CA371696406 | PDP1 | c.1268C>G (p.Thr423Ser) c.1343C>G (p.Thr448Ser) c.1322C>G (p.Thr441Ser) c.1430C>G (p.Thr477Ser) | |
8 | g.93923327C>T | CA371696408 | PDP1 | c.1268C>T (p.Thr423Ile) c.1343C>T (p.Thr448Ile) c.1322C>T (p.Thr441Ile) c.1430C>T (p.Thr477Ile) | gnomAD v4 |
8 | g.93923327_93923329delinsCTA | CA1803280906 | PDP1 | c.1268_1270delinsCTA (p.Thr423=) c.1343_1345delinsCTA (p.Thr448=) c.1322_1324delinsCTA (p.Thr441=) c.1430_1432delinsCTA (p.Thr477=) | |
8 | g.93923328T>A | CA462118152 | PDP1 | c.1269T>A (p.Thr423=) c.1344T>A (p.Thr448=) c.1323T>A (p.Thr441=) c.1431T>A (p.Thr477=) | |
8 | g.93923328T>C | CA462118153 | PDP1 | c.1269T>C (p.Thr423=) c.1344T>C (p.Thr448=) c.1323T>C (p.Thr441=) c.1431T>C (p.Thr477=) | |
8 | g.93923328T>G | CA462118154 | PDP1 | c.1269T>G (p.Thr423=) c.1344T>G (p.Thr448=) c.1323T>G (p.Thr441=) c.1431T>G (p.Thr477=) | |
8 | g.93923329_93923330del | CA583844356 | PDP1 | c.1270_1271del (p.Met424AlafsTer2) c.1345_1346del (p.Met449AlafsTer2) c.1324_1325del (p.Met442AlafsTer2) c.1432_1433del (p.Met478AlafsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923329A= | CA1803280907 | PDP1 | c.1270A= (p.Met424=) c.1345A= (p.Met449=) c.1324A= (p.Met442=) c.1432A= (p.Met478=) | |
8 | g.93923329A>C | CA371696411 | PDP1 | c.1270A>C (p.Met424Leu) c.1345A>C (p.Met449Leu) c.1324A>C (p.Met442Leu) c.1432A>C (p.Met478Leu) | gnomAD v4 |
8 | g.93923329A>G | CA371696412 | PDP1 | c.1270A>G (p.Met424Val) c.1345A>G (p.Met449Val) c.1324A>G (p.Met442Val) c.1432A>G (p.Met478Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923329A>T | CA371696414 | PDP1 | c.1270A>T (p.Met424Leu) c.1345A>T (p.Met449Leu) c.1324A>T (p.Met442Leu) c.1432A>T (p.Met478Leu) | |
8 | g.93923330T>A | CA371696418 | PDP1 | c.1271T>A (p.Met424Lys) c.1346T>A (p.Met449Lys) c.1325T>A (p.Met442Lys) c.1433T>A (p.Met478Lys) | |
8 | g.93923330T>C | CA371696419 | PDP1 | c.1271T>C (p.Met424Thr) c.1346T>C (p.Met449Thr) c.1325T>C (p.Met442Thr) c.1433T>C (p.Met478Thr) | |
8 | g.93923330T>G | CA371696416 | PDP1 | c.1271T>G (p.Met424Arg) c.1346T>G (p.Met449Arg) c.1325T>G (p.Met442Arg) c.1433T>G (p.Met478Arg) | |
8 | g.93923331G>A | CA371696422 | PDP1 | c.1272G>A (p.Met424Ile) c.1347G>A (p.Met449Ile) c.1326G>A (p.Met442Ile) c.1434G>A (p.Met478Ile) | gnomAD v4 |
8 | g.93923331G>C | CA371696423 | PDP1 | c.1272G>C (p.Met424Ile) c.1347G>C (p.Met449Ile) c.1326G>C (p.Met442Ile) c.1434G>C (p.Met478Ile) | |
8 | g.93923331G>T | CA371696425 | PDP1 | c.1272G>T (p.Met424Ile) c.1347G>T (p.Met449Ile) c.1326G>T (p.Met442Ile) c.1434G>T (p.Met478Ile) | |
8 | g.93923332C>A | CA371696426 | PDP1 | c.1273C>A (p.His425Asn) c.1348C>A (p.His450Asn) c.1327C>A (p.His443Asn) c.1435C>A (p.His479Asn) | |
8 | g.93923332C>G | CA371696428 | PDP1 | c.1273C>G (p.His425Asp) c.1348C>G (p.His450Asp) c.1327C>G (p.His443Asp) c.1435C>G (p.His479Asp) | |
8 | g.93923332C>T | CA371696430 | PDP1 | c.1273C>T (p.His425Tyr) c.1348C>T (p.His450Tyr) c.1327C>T (p.His443Tyr) c.1435C>T (p.His479Tyr) | COSMIC COSMIC |
8 | g.93923333A= | CA1803280908 | PDP1 | c.1274A= (p.His425=) c.1349A= (p.His450=) c.1328A= (p.His443=) c.1436A= (p.His479=) | |
8 | g.93923333A>C | CA371696432 | PDP1 | c.1274A>C (p.His425Pro) c.1349A>C (p.His450Pro) c.1328A>C (p.His443Pro) c.1436A>C (p.His479Pro) | |
8 | g.93923333A>G | CA4808801 | PDP1 | c.1274A>G (p.His425Arg) c.1349A>G (p.His450Arg) c.1328A>G (p.His443Arg) c.1436A>G (p.His479Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923333A>T | CA371696435 | PDP1 | c.1274A>T (p.His425Leu) c.1349A>T (p.His450Leu) c.1328A>T (p.His443Leu) c.1436A>T (p.His479Leu) | |
8 | g.93923334T>A | CA371696437 | PDP1 | c.1275T>A (p.His425Gln) c.1350T>A (p.His450Gln) c.1329T>A (p.His443Gln) c.1437T>A (p.His479Gln) | |
8 | g.93923334T>C | CA181376124 | PDP1 | c.1275T>C (p.His425=) c.1350T>C (p.His450=) c.1329T>C (p.His443=) c.1437T>C (p.His479=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923334T>G | CA371696439 | PDP1 | c.1275T>G (p.His425Gln) c.1350T>G (p.His450Gln) c.1329T>G (p.His443Gln) c.1437T>G (p.His479Gln) | |
8 | g.93923334T= | CA1803280909 | PDP1 | c.1275T= (p.His425=) c.1350T= (p.His450=) c.1329T= (p.His443=) c.1437T= (p.His479=) | |
8 | g.93923335A>C | CA462118155 | PDP1 | c.1276A>C (p.Arg426=) c.1351A>C (p.Arg451=) c.1330A>C (p.Arg444=) c.1438A>C (p.Arg480=) | |
8 | g.93923335A>G | CA371696441 | PDP1 | c.1276A>G (p.Arg426Gly) c.1351A>G (p.Arg451Gly) c.1330A>G (p.Arg444Gly) c.1438A>G (p.Arg480Gly) | gnomAD v4 |
8 | g.93923335A>T | CA371696443 | PDP1 | c.1276A>T (p.Arg426Trp) c.1351A>T (p.Arg451Trp) c.1330A>T (p.Arg444Trp) c.1438A>T (p.Arg480Trp) | gnomAD v4 |
8 | g.93923336G>A | CA371696446 | PDP1 | c.1277G>A (p.Arg426Lys) c.1352G>A (p.Arg451Lys) c.1331G>A (p.Arg444Lys) c.1439G>A (p.Arg480Lys) | |
8 | g.93923336G>C | CA371696444 | PDP1 | c.1277G>C (p.Arg426Thr) c.1352G>C (p.Arg451Thr) c.1331G>C (p.Arg444Thr) c.1439G>C (p.Arg480Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923336G= | CA1803280910 | PDP1 | c.1277G= (p.Arg426=) c.1352G= (p.Arg451=) c.1331G= (p.Arg444=) c.1439G= (p.Arg480=) | |
8 | g.93923336G>T | CA371696445 | PDP1 | c.1277G>T (p.Arg426Met) c.1352G>T (p.Arg451Met) c.1331G>T (p.Arg444Met) c.1439G>T (p.Arg480Met) | gnomAD v4 |
8 | g.93923337G>A | CA462118156 | PDP1 | c.1278G>A (p.Arg426=) c.1353G>A (p.Arg451=) c.1332G>A (p.Arg444=) c.1440G>A (p.Arg480=) | |
8 | g.93923337G>C | CA371696447 | PDP1 | c.1278G>C (p.Arg426Ser) c.1353G>C (p.Arg451Ser) c.1332G>C (p.Arg444Ser) c.1440G>C (p.Arg480Ser) | |
8 | g.93923337G>T | CA371696448 | PDP1 | c.1278G>T (p.Arg426Ser) c.1353G>T (p.Arg451Ser) c.1332G>T (p.Arg444Ser) c.1440G>T (p.Arg480Ser) | |
8 | g.93923338C>A | CA371696449 | PDP1 | c.1279C>A (p.Gln427Lys) c.1354C>A (p.Gln452Lys) c.1333C>A (p.Gln445Lys) c.1441C>A (p.Gln481Lys) | |
8 | g.93923338C>G | CA371696451 | PDP1 | c.1279C>G (p.Gln427Glu) c.1354C>G (p.Gln452Glu) c.1333C>G (p.Gln445Glu) c.1441C>G (p.Gln481Glu) | |
8 | g.93923338C>T | CA371696453 | PDP1 | c.1279C>T (p.Gln427Ter) c.1354C>T (p.Gln452Ter) c.1333C>T (p.Gln445Ter) c.1441C>T (p.Gln481Ter) | |
8 | g.93923339A>C | CA371696455 | PDP1 | c.1280A>C (p.Gln427Pro) c.1355A>C (p.Gln452Pro) c.1334A>C (p.Gln445Pro) c.1442A>C (p.Gln481Pro) | |
8 | g.93923339A>G | CA371696456 | PDP1 | c.1280A>G (p.Gln427Arg) c.1355A>G (p.Gln452Arg) c.1334A>G (p.Gln445Arg) c.1442A>G (p.Gln481Arg) | gnomAD v4 |
8 | g.93923339A>T | CA371696458 | PDP1 | c.1280A>T (p.Gln427Leu) c.1355A>T (p.Gln452Leu) c.1334A>T (p.Gln445Leu) c.1442A>T (p.Gln481Leu) | |
8 | g.93923340G>A | CA4808803 | PDP1 | c.1281G>A (p.Gln427=) c.1356G>A (p.Gln452=) c.1335G>A (p.Gln445=) c.1443G>A (p.Gln481=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923340G>C | CA4808802 | PDP1 | c.1281G>C (p.Gln427His) c.1356G>C (p.Gln452His) c.1335G>C (p.Gln445His) c.1443G>C (p.Gln481His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923340G= | CA1803280911 | PDP1 | c.1281G= (p.Gln427=) c.1356G= (p.Gln452=) c.1335G= (p.Gln445=) c.1443G= (p.Gln481=) | |
8 | g.93923340G>T | CA371696462 | PDP1 | c.1281G>T (p.Gln427His) c.1356G>T (p.Gln452His) c.1335G>T (p.Gln445His) c.1443G>T (p.Gln481His) | |
8 | g.93923341G>A | CA371696463 | PDP1 | c.1282G>A (p.Asp428Asn) c.1357G>A (p.Asp453Asn) c.1336G>A (p.Asp446Asn) c.1444G>A (p.Asp482Asn) | |
8 | g.93923341G>C | CA371696466 | PDP1 | c.1282G>C (p.Asp428His) c.1357G>C (p.Asp453His) c.1336G>C (p.Asp446His) c.1444G>C (p.Asp482His) | |
8 | g.93923341G= | CA1803280912 | PDP1 | c.1282G= (p.Asp428=) c.1357G= (p.Asp453=) c.1336G= (p.Asp446=) c.1444G= (p.Asp482=) | |
8 | g.93923341G>T | CA371696464 | PDP1 | c.1282G>T (p.Asp428Tyr) c.1357G>T (p.Asp453Tyr) c.1336G>T (p.Asp446Tyr) c.1444G>T (p.Asp482Tyr) | dbSNP gnomAD v2 |
8 | g.93923342A= | CA1803280913 | PDP1 | c.1283A= (p.Asp428=) c.1358A= (p.Asp453=) c.1337A= (p.Asp446=) c.1445A= (p.Asp482=) | |
8 | g.93923342A>C | CA371696467 | PDP1 | c.1283A>C (p.Asp428Ala) c.1358A>C (p.Asp453Ala) c.1337A>C (p.Asp446Ala) c.1445A>C (p.Asp482Ala) | |
8 | g.93923342A>G | CA371696471 | PDP1 | c.1283A>G (p.Asp428Gly) c.1358A>G (p.Asp453Gly) c.1337A>G (p.Asp446Gly) c.1445A>G (p.Asp482Gly) | ClinVar dbSNP |
8 | g.93923342A>T | CA371696469 | PDP1 | c.1283A>T (p.Asp428Val) c.1358A>T (p.Asp453Val) c.1337A>T (p.Asp446Val) c.1445A>T (p.Asp482Val) | gnomAD v4 |
8 | g.93923343T>A | CA371696472 | PDP1 | c.1284T>A (p.Asp428Glu) c.1359T>A (p.Asp453Glu) c.1338T>A (p.Asp446Glu) c.1446T>A (p.Asp482Glu) | ClinVar dbSNP |
8 | g.93923343T>C | CA4808804 | PDP1 | c.1284T>C (p.Asp428=) c.1359T>C (p.Asp453=) c.1338T>C (p.Asp446=) c.1446T>C (p.Asp482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923343T>G | CA371696473 | PDP1 | c.1284T>G (p.Asp428Glu) c.1359T>G (p.Asp453Glu) c.1338T>G (p.Asp446Glu) c.1446T>G (p.Asp482Glu) | |
8 | g.93923343T= | CA1803280914 | PDP1 | c.1284T= (p.Asp428=) c.1359T= (p.Asp453=) c.1338T= (p.Asp446=) c.1446T= (p.Asp482=) | |
8 | g.93923344G>A | CA371696475 | PDP1 | c.1285G>A (p.Val429Met) c.1360G>A (p.Val454Met) c.1339G>A (p.Val447Met) c.1447G>A (p.Val483Met) | gnomAD v4 |
8 | g.93923344G>C | CA371696476 | PDP1 | c.1285G>C (p.Val429Leu) c.1360G>C (p.Val454Leu) c.1339G>C (p.Val447Leu) c.1447G>C (p.Val483Leu) | |
8 | g.93923344G= | CA1803280915 | PDP1 | c.1285G= (p.Val429=) c.1360G= (p.Val454=) c.1339G= (p.Val447=) c.1447G= (p.Val483=) | |
8 | g.93923344G>T | CA371696478 | PDP1 | c.1285G>T (p.Val429Leu) c.1360G>T (p.Val454Leu) c.1339G>T (p.Val447Leu) c.1447G>T (p.Val483Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923345T>A | CA371696480 | PDP1 | c.1286T>A (p.Val429Glu) c.1361T>A (p.Val454Glu) c.1340T>A (p.Val447Glu) c.1448T>A (p.Val483Glu) | |
8 | g.93923345T>C | CA371696481 | PDP1 | c.1286T>C (p.Val429Ala) c.1361T>C (p.Val454Ala) c.1340T>C (p.Val447Ala) c.1448T>C (p.Val483Ala) | gnomAD v4 |
8 | g.93923345T>G | CA371696482 | PDP1 | c.1286T>G (p.Val429Gly) c.1361T>G (p.Val454Gly) c.1340T>G (p.Val447Gly) c.1448T>G (p.Val483Gly) | |
8 | g.93923346G>A | CA462118157 | PDP1 | c.1287G>A (p.Val429=) c.1362G>A (p.Val454=) c.1341G>A (p.Val447=) c.1449G>A (p.Val483=) | |
8 | g.93923346G>C | CA462118158 | PDP1 | c.1287G>C (p.Val429=) c.1362G>C (p.Val454=) c.1341G>C (p.Val447=) c.1449G>C (p.Val483=) | |
8 | g.93923346G>T | CA462118159 | PDP1 | c.1287G>T (p.Val429=) c.1362G>T (p.Val454=) c.1341G>T (p.Val447=) c.1449G>T (p.Val483=) | |
8 | g.93923347G>A | CA371696484 | PDP1 | c.1288G>A (p.Val430Ile) c.1363G>A (p.Val455Ile) c.1342G>A (p.Val448Ile) c.1450G>A (p.Val484Ile) | |
8 | g.93923347G>C | CA371696485 | PDP1 | c.1288G>C (p.Val430Leu) c.1363G>C (p.Val455Leu) c.1342G>C (p.Val448Leu) c.1450G>C (p.Val484Leu) | |
8 | g.93923347G>T | CA371696487 | PDP1 | c.1288G>T (p.Val430Phe) c.1363G>T (p.Val455Phe) c.1342G>T (p.Val448Phe) c.1450G>T (p.Val484Phe) | |
8 | g.93923348T>A | CA371696492 | PDP1 | c.1289T>A (p.Val430Asp) c.1364T>A (p.Val455Asp) c.1343T>A (p.Val448Asp) c.1451T>A (p.Val484Asp) | |
8 | g.93923348T>C | CA371696489 | PDP1 | c.1289T>C (p.Val430Ala) c.1364T>C (p.Val455Ala) c.1343T>C (p.Val448Ala) c.1451T>C (p.Val484Ala) | |
8 | g.93923348T>G | CA371696490 | PDP1 | c.1289T>G (p.Val430Gly) c.1364T>G (p.Val455Gly) c.1343T>G (p.Val448Gly) c.1451T>G (p.Val484Gly) | |
8 | g.93923349T>A | CA462118160 | PDP1 | c.1290T>A (p.Val430=) c.1365T>A (p.Val455=) c.1344T>A (p.Val448=) c.1452T>A (p.Val484=) | |
8 | g.93923349T>C | CA462118161 | PDP1 | c.1290T>C (p.Val430=) c.1365T>C (p.Val455=) c.1344T>C (p.Val448=) c.1452T>C (p.Val484=) | |
8 | g.93923349T>G | CA462118162 | PDP1 | c.1290T>G (p.Val430=) c.1365T>G (p.Val455=) c.1344T>G (p.Val448=) c.1452T>G (p.Val484=) | |
8 | g.93923350A>C | CA462118163 | PDP1 | c.1291A>C (p.Arg431=) c.1366A>C (p.Arg456=) c.1345A>C (p.Arg449=) c.1453A>C (p.Arg485=) | |
8 | g.93923350A>G | CA371696494 | PDP1 | c.1291A>G (p.Arg431Gly) c.1366A>G (p.Arg456Gly) c.1345A>G (p.Arg449Gly) c.1453A>G (p.Arg485Gly) | |
8 | g.93923350A>T | CA371696496 | PDP1 | c.1291A>T (p.Arg431Trp) c.1366A>T (p.Arg456Trp) c.1345A>T (p.Arg449Trp) c.1453A>T (p.Arg485Trp) | |
8 | g.93923351G>A | CA371696498 | PDP1 | c.1292G>A (p.Arg431Lys) c.1367G>A (p.Arg456Lys) c.1346G>A (p.Arg449Lys) c.1454G>A (p.Arg485Lys) | |
8 | g.93923351G>C | CA371696499 | PDP1 | c.1292G>C (p.Arg431Thr) c.1367G>C (p.Arg456Thr) c.1346G>C (p.Arg449Thr) c.1454G>C (p.Arg485Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923351G= | CA1803280916 | PDP1 | c.1292G= (p.Arg431=) c.1367G= (p.Arg456=) c.1346G= (p.Arg449=) c.1454G= (p.Arg485=) | |
8 | g.93923351G>T | CA371696501 | PDP1 | c.1292G>T (p.Arg431Met) c.1367G>T (p.Arg456Met) c.1346G>T (p.Arg449Met) c.1454G>T (p.Arg485Met) | |
8 | g.93923352G>A | CA462118164 | PDP1 | c.1293G>A (p.Arg431=) c.1368G>A (p.Arg456=) c.1347G>A (p.Arg449=) c.1455G>A (p.Arg485=) | gnomAD v4 |
8 | g.93923352G>C | CA371696504 | PDP1 | c.1293G>C (p.Arg431Ser) c.1368G>C (p.Arg456Ser) c.1347G>C (p.Arg449Ser) c.1455G>C (p.Arg485Ser) | |
8 | g.93923352G>T | CA371696506 | PDP1 | c.1293G>T (p.Arg431Ser) c.1368G>T (p.Arg456Ser) c.1347G>T (p.Arg449Ser) c.1455G>T (p.Arg485Ser) | |
8 | g.93923353A>C | CA371696507 | PDP1 | c.1294A>C (p.Ile432Leu) c.1369A>C (p.Ile457Leu) c.1348A>C (p.Ile450Leu) c.1456A>C (p.Ile486Leu) | |
8 | g.93923353A>G | CA371696509 | PDP1 | c.1294A>G (p.Ile432Val) c.1369A>G (p.Ile457Val) c.1348A>G (p.Ile450Val) c.1456A>G (p.Ile486Val) | |
8 | g.93923353A>T | CA371696511 | PDP1 | c.1294A>T (p.Ile432Phe) c.1369A>T (p.Ile457Phe) c.1348A>T (p.Ile450Phe) c.1456A>T (p.Ile486Phe) | |
8 | g.93923354T>A | CA371696520 | PDP1 | c.1295T>A (p.Ile432Asn) c.1370T>A (p.Ile457Asn) c.1349T>A (p.Ile450Asn) c.1457T>A (p.Ile486Asn) | |
8 | g.93923354T>C | CA371696518 | PDP1 | c.1295T>C (p.Ile432Thr) c.1370T>C (p.Ile457Thr) c.1349T>C (p.Ile450Thr) c.1457T>C (p.Ile486Thr) | gnomAD v4 |
8 | g.93923354T>G | CA371696513 | PDP1 | c.1295T>G (p.Ile432Ser) c.1370T>G (p.Ile457Ser) c.1349T>G (p.Ile450Ser) c.1457T>G (p.Ile486Ser) | |
8 | g.93923355T>A | CA462118165 | PDP1 | c.1296T>A (p.Ile432=) c.1371T>A (p.Ile457=) c.1350T>A (p.Ile450=) c.1458T>A (p.Ile486=) | |
8 | g.93923355T>C | CA462118166 | PDP1 | c.1296T>C (p.Ile432=) c.1371T>C (p.Ile457=) c.1350T>C (p.Ile450=) c.1458T>C (p.Ile486=) | |
8 | g.93923355T>G | CA371696522 | PDP1 | c.1296T>G (p.Ile432Met) c.1371T>G (p.Ile457Met) c.1350T>G (p.Ile450Met) c.1458T>G (p.Ile486Met) | |
8 | g.93923356G>A | CA371696524 | PDP1 | c.1297G>A (p.Val433Met) c.1372G>A (p.Val458Met) c.1351G>A (p.Val451Met) c.1459G>A (p.Val487Met) | |
8 | g.93923356G>C | CA371696526 | PDP1 | c.1297G>C (p.Val433Leu) c.1372G>C (p.Val458Leu) c.1351G>C (p.Val451Leu) c.1459G>C (p.Val487Leu) | |
8 | g.93923356G>T | CA371696528 | PDP1 | c.1297G>T (p.Val433Leu) c.1372G>T (p.Val458Leu) c.1351G>T (p.Val451Leu) c.1459G>T (p.Val487Leu) | |
8 | g.93923357T>A | CA371696530 | PDP1 | c.1298T>A (p.Val433Glu) c.1373T>A (p.Val458Glu) c.1352T>A (p.Val451Glu) c.1460T>A (p.Val487Glu) | |
8 | g.93923357T>C | CA371696532 | PDP1 | c.1298T>C (p.Val433Ala) c.1373T>C (p.Val458Ala) c.1352T>C (p.Val451Ala) c.1460T>C (p.Val487Ala) | gnomAD v4 |
8 | g.93923357T>G | CA371696533 | PDP1 | c.1298T>G (p.Val433Gly) c.1373T>G (p.Val458Gly) c.1352T>G (p.Val451Gly) c.1460T>G (p.Val487Gly) | |
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) |