12 | g.14506976_14506989del | CA2617768288 | PLBD1 | c.1321_1334del (p.Gln441Ter)
| gnomAD v4 |
12 | g.14506976T>A | CA383982011 | PLBD1 | c.1329A>T (p.Lys443Asn)
| |
12 | g.14506976T>C | CA6462493 | PLBD1 | c.1329A>G (p.Lys443=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14506976T>G | CA383982012 | PLBD1 | c.1329A>C (p.Lys443Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14506976T= | CA2017888338 | PLBD1 | c.1329A= (p.Lys443=)
| |
12 | g.14506977T>A | CA383982013 | PLBD1 | c.1328A>T (p.Lys443Ile)
| |
12 | g.14506977T>C | CA383982014 | PLBD1 | c.1328A>G (p.Lys443Arg)
| |
12 | g.14506977T>G | CA383982015 | PLBD1 | c.1328A>C (p.Lys443Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14506977T= | CA2017888339 | PLBD1 | c.1328A= (p.Lys443=)
| |
12 | g.14506978T>A | CA383982016 | PLBD1 | c.1327A>T (p.Lys443Ter)
| |
12 | g.14506978T>C | CA383982017 | PLBD1 | c.1327A>G (p.Lys443Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14506978T>G | CA6462494 | PLBD1 | c.1327A>C (p.Lys443Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14506978T= | CA2017888340 | PLBD1 | c.1327A= (p.Lys443=)
| |
12 | g.14506979C>A | CA478704998 | PLBD1 | c.1326G>T (p.Gly442=)
| |
12 | g.14506979C= | CA2017888341 | PLBD1 | c.1326G= (p.Gly442=)
| |
12 | g.14506979C>G | CA478704999 | PLBD1 | c.1326G>C (p.Gly442=)
| |
12 | g.14506979C>T | CA6462495 | PLBD1 | c.1326G>A (p.Gly442=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14506980C>A | CA383982018 | PLBD1 | c.1325G>T (p.Gly442Val)
| |
12 | g.14506980C>G | CA383982019 | PLBD1 | c.1325G>C (p.Gly442Ala)
| |
12 | g.14506980C>T | CA383982020 | PLBD1 | c.1325G>A (p.Gly442Glu)
| |
12 | g.14506981C>A | CA383982021 | PLBD1 | c.1324G>T (p.Gly442Trp)
| |
12 | g.14506981C= | CA2017888342 | PLBD1 | c.1324G= (p.Gly442=)
| |
12 | g.14506981C>G | CA383982022 | PLBD1 | c.1324G>C (p.Gly442Arg)
| |
12 | g.14506981C>T | CA6462496 | PLBD1 | c.1324G>A (p.Gly442Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.14506982_14506989del | CA2617768289 | PLBD1 | c.1317_1324del (p.Asp440GlufsTer4)
| gnomAD v4 |
12 | g.14506982T>A | CA383982023 | PLBD1 | c.1323A>T (p.Gln441His)
| |
12 | g.14506982T>C | CA478705000 | PLBD1 | c.1323A>G (p.Gln441=)
| |
12 | g.14506982T>G | CA383982024 | PLBD1 | c.1323A>C (p.Gln441His)
| |
12 | g.14506983T>A | CA383982025 | PLBD1 | c.1322A>T (p.Gln441Leu)
| |
12 | g.14506983T>C | CA383982026 | PLBD1 | c.1322A>G (p.Gln441Arg)
| gnomAD v4 |
12 | g.14506983T>G | CA383982027 | PLBD1 | c.1322A>C (p.Gln441Pro)
| gnomAD v4 |
12 | g.14506984G>A | CA383982030 | PLBD1 | c.1321C>T (p.Gln441Ter)
| |
12 | g.14506984G>C | CA383982029 | PLBD1 | c.1321C>G (p.Gln441Glu)
| |
12 | g.14506984G>T | CA383982028 | PLBD1 | c.1321C>A (p.Gln441Lys)
| |
12 | g.14506985G>A | CA478705003 | PLBD1 | c.1320C>T (p.Asp440=)
| dbSNP gnomAD v2 |
12 | g.14506985G>C | CA383982031 | PLBD1 | c.1320C>G (p.Asp440Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14506985G= | CA2017888343 | PLBD1 | c.1320C= (p.Asp440=)
| |
12 | g.14506985G>T | CA383982032 | PLBD1 | c.1320C>A (p.Asp440Glu)
| dbSNP |
12 | g.14506986T>A | CA383982033 | PLBD1 | c.1319A>T (p.Asp440Val)
| |
12 | g.14506986T>C | CA383982034 | PLBD1 | c.1319A>G (p.Asp440Gly)
| ClinVar |
12 | g.14506986T>G | CA383982035 | PLBD1 | c.1319A>C (p.Asp440Ala)
| |
12 | g.14506987C>A | CA383982036 | PLBD1 | c.1318G>T (p.Asp440Tyr)
| dbSNP |
12 | g.14506987C= | CA2017888344 | PLBD1 | c.1318G= (p.Asp440=)
| |
12 | g.14506987C>G | CA383982037 | PLBD1 | c.1318G>C (p.Asp440His)
| |
12 | g.14506987C>T | CA383982038 | PLBD1 | c.1318G>A (p.Asp440Asn)
| |
12 | g.14506988A= | CA2017888345 | PLBD1 | c.1317T= (p.Arg439=)
| |
12 | g.14506988A>C | CA478705004 | PLBD1 | c.1317T>G (p.Arg439=)
| gnomAD v4 |
12 | g.14506988A>G | CA6462497 | PLBD1 | c.1317T>C (p.Arg439=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14506988A>T | CA478705005 | PLBD1 | c.1317T>A (p.Arg439=)
| |
12 | g.14506989C>A | CA383982039 | PLBD1 | c.1316G>T (p.Arg439Leu)
| dbSNP gnomAD v4 |
12 | g.14506989C= | CA2017888346 | PLBD1 | c.1316G= (p.Arg439=)
| |
12 | g.14506989C>G | CA383982040 | PLBD1 | c.1316G>C (p.Arg439Pro)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14506989C>T | CA6462498 | PLBD1 | c.1316G>A (p.Arg439His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.14506990G>A | CA6462499 | PLBD1 | c.1315C>T (p.Arg439Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14506990G>C | CA383982042 | PLBD1 | c.1315C>G (p.Arg439Gly)
| |
12 | g.14506990G= | CA2017888347 | PLBD1 | c.1315C= (p.Arg439=)
| |
12 | g.14506990G>T | CA383982041 | PLBD1 | c.1315C>A (p.Arg439Ser)
| |
12 | g.14506991C>A | CA478705006 | PLBD1 | c.1314G>T (p.Arg438=)
| |
12 | g.14506991C>G | CA478705008 | PLBD1 | c.1314G>C (p.Arg438=)
| |
12 | g.14506991C>T | CA478705007 | PLBD1 | c.1314G>A (p.Arg438=)
| |
12 | g.14506992C>A | CA383982043 | PLBD1 | c.1313G>T (p.Arg438Leu)
| |
12 | g.14506992C= | CA2017888348 | PLBD1 | c.1313G= (p.Arg438=)
| |
12 | g.14506992C>G | CA383982044 | PLBD1 | c.1313G>C (p.Arg438Pro)
| |
12 | g.14506992C>T | CA6462500 | PLBD1 | c.1313G>A (p.Arg438Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14506993G>A | CA6462501 | PLBD1 | c.1312C>T (p.Arg438Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.14506993G>C | CA383982045 | PLBD1 | c.1312C>G (p.Arg438Gly)
| |
12 | g.14506993G= | CA2017888349 | PLBD1 | c.1312C= (p.Arg438=)
| |
12 | g.14506993G>T | CA478705009 | PLBD1 | c.1312C>A (p.Arg438=)
| gnomAD v3 gnomAD v4 |
12 | g.14506994G>A | CA478705010 | PLBD1 | c.1311C>T (p.Phe437=)
| |
12 | g.14506994G>C | CA383982046 | PLBD1 | c.1311C>G (p.Phe437Leu)
| |
12 | g.14506994G>T | CA383982047 | PLBD1 | c.1311C>A (p.Phe437Leu)
| gnomAD v4 |
12 | g.14506994_14506995delinsGA | CA2017888350 | PLBD1 | c.1310_1311delinsTC (p.Phe437=)
| |
12 | g.14506995A= | CA2017888351 | PLBD1 | c.1310T= (p.Phe437=)
| |
12 | g.14506995A>C | CA383982048 | PLBD1 | c.1310T>G (p.Phe437Cys)
| |
12 | g.14506995A>G | CA383982049 | PLBD1 | c.1310T>C (p.Phe437Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14506995A>T | CA383982050 | PLBD1 | c.1310T>A (p.Phe437Tyr)
| |
12 | g.14506998del | CA944991895 | PLBD1 | c.1310del (p.Phe437SerfsTer8)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14506996A>C | CA383982051 | PLBD1 | c.1309T>G (p.Phe437Val)
| |
12 | g.14506996A>G | CA383982052 | PLBD1 | c.1309T>C (p.Phe437Leu)
| |
12 | g.14506996A>T | CA383982053 | PLBD1 | c.1309T>A (p.Phe437Ile)
| |
12 | g.14506997A>C | CA383982054 | PLBD1 | c.1308T>G (p.Ile436Met)
| |
12 | g.14506997A>G | CA478705011 | PLBD1 | c.1308T>C (p.Ile436=)
| gnomAD v3 gnomAD v4 |
12 | g.14506997A>T | CA478705012 | PLBD1 | c.1308T>A (p.Ile436=)
| |
12 | g.14506998A>C | CA383982057 | PLBD1 | c.1307T>G (p.Ile436Ser)
| |
12 | g.14506998A>G | CA383982055 | PLBD1 | c.1307T>C (p.Ile436Thr)
| |
12 | g.14506998A>T | CA383982056 | PLBD1 | c.1307T>A (p.Ile436Asn)
| |
12 | g.14506999T>A | CA383982058 | PLBD1 | c.1306A>T (p.Ile436Phe)
| |
12 | g.14506999T>C | CA383982059 | PLBD1 | c.1306A>G (p.Ile436Val)
| |
12 | g.14506999T>G | CA383982060 | PLBD1 | c.1306A>C (p.Ile436Leu)
| |
12 | g.14507000T>A | CA383982061 | PLBD1 | c.1305A>T (p.Lys435Asn)
| |
12 | g.14507000T>C | CA478705013 | PLBD1 | c.1305A>G (p.Lys435=)
| |
12 | g.14507000T>G | CA383982062 | PLBD1 | c.1305A>C (p.Lys435Asn)
| |
12 | g.14507001T>A | CA383982063 | PLBD1 | c.1304A>T (p.Lys435Ile)
| |
12 | g.14507001T>C | CA383982064 | PLBD1 | c.1304A>G (p.Lys435Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14507001T>G | CA383982065 | PLBD1 | c.1304A>C (p.Lys435Thr)
| gnomAD v4 |
12 | g.14507001T= | CA2017888352 | PLBD1 | c.1304A= (p.Lys435=)
| |
12 | g.14507002T>A | CA383982066 | PLBD1 | c.1303A>T (p.Lys435Ter)
| |
12 | g.14507002T>C | CA383982067 | PLBD1 | c.1303A>G (p.Lys435Glu)
| |
12 | g.14507002T>G | CA383982068 | PLBD1 | c.1303A>C (p.Lys435Gln)
| |
12 | g.14507003G>A | CA478705014 | PLBD1 | c.1302C>T (p.Ala434=)
| |
12 | g.14507003G>C | CA478705016 | PLBD1 | c.1302C>G (p.Ala434=)
| |
12 | g.14507003G>T | CA478705015 | PLBD1 | c.1302C>A (p.Ala434=)
| |
12 | g.14507004G>A | CA383982070 | PLBD1 | c.1301C>T (p.Ala434Val)
| |
12 | g.14507004G>C | CA383982071 | PLBD1 | c.1301C>G (p.Ala434Gly)
| |
12 | g.14507004G>T | CA383982069 | PLBD1 | c.1301C>A (p.Ala434Asp)
| |
12 | g.14507005C>A | CA383982072 | PLBD1 | c.1300G>T (p.Ala434Ser)
| |
12 | g.14507005C>G | CA383982073 | PLBD1 | c.1300G>C (p.Ala434Pro)
| |
12 | g.14507005C>T | CA383982074 | PLBD1 | c.1300G>A (p.Ala434Thr)
| |
12 | g.14507006T>A | CA478705018 | PLBD1 | c.1299A>T (p.Arg433=)
| gnomAD v3 gnomAD v4 |
12 | g.14507006T>C | CA478705019 | PLBD1 | c.1299A>G (p.Arg433=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14507006T>G | CA478705017 | PLBD1 | c.1299A>C (p.Arg433=)
| |
12 | g.14507006T= | CA2017888353 | PLBD1 | c.1299A= (p.Arg433=)
| |
12 | g.14507007del | CA2617768290 | PLBD1 | c.1298del (p.Arg433GlnfsTer12)
| gnomAD v4 |
12 | g.14507007C>A | CA383982075 | PLBD1 | c.1298G>T (p.Arg433Leu)
| |
12 | g.14507007C= | CA2017888354 | PLBD1 | c.1298G= (p.Arg433=)
| |
12 | g.14507007C>G | CA383982076 | PLBD1 | c.1298G>C (p.Arg433Pro)
| |
12 | g.14507007C>T | CA6462502 | PLBD1 | c.1298G>A (p.Arg433Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507008G>A | CA6462504 | PLBD1 | c.1297C>T (p.Arg433Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507008G>C | CA6462503 | PLBD1 | c.1297C>G (p.Arg433Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14507008G= | CA2017888355 | PLBD1 | c.1297C= (p.Arg433=)
| |
12 | g.14507008G>T | CA478705021 | PLBD1 | c.1297C>A (p.Arg433=)
| dbSNP gnomAD v4 COSMIC |
12 | g.14507009T>A | CA478705024 | PLBD1 | c.1296A>T (p.Pro432=)
| |
12 | g.14507009T>C | CA478705022 | PLBD1 | c.1296A>G (p.Pro432=)
| |
12 | g.14507009T>G | CA478705023 | PLBD1 | c.1296A>C (p.Pro432=)
| dbSNP |
12 | g.14507009T= | CA2017888356 | PLBD1 | c.1296A= (p.Pro432=)
| |
12 | g.14507010G>A | CA383982077 | PLBD1 | c.1295C>T (p.Pro432Leu)
| |
12 | g.14507010G>C | CA383982078 | PLBD1 | c.1295C>G (p.Pro432Arg)
| |
12 | g.14507010G>T | CA383982079 | PLBD1 | c.1295C>A (p.Pro432Gln)
| |
12 | g.14507011G>A | CA383982080 | PLBD1 | c.1294C>T (p.Pro432Ser)
| gnomAD v4 |
12 | g.14507011G>C | CA383982081 | PLBD1 | c.1294C>G (p.Pro432Ala)
| |
12 | g.14507011G= | CA2017888357 | PLBD1 | c.1294C= (p.Pro432=)
| |
12 | g.14507011G>T | CA6462505 | PLBD1 | c.1294C>A (p.Pro432Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507012A= | CA2017888358 | PLBD1 | c.1293T= (p.Ala431=)
| |
12 | g.14507012A>C | CA478705025 | PLBD1 | c.1293T>G (p.Ala431=)
| |
12 | g.14507012A>G | CA478705028 | PLBD1 | c.1293T>C (p.Ala431=)
| dbSNP |
12 | g.14507012A>T | CA478705027 | PLBD1 | c.1293T>A (p.Ala431=)
| |
12 | g.14507013G>A | CA383982082 | PLBD1 | c.1292C>T (p.Ala431Val)
| gnomAD v4 |
12 | g.14507013G>C | CA383982084 | PLBD1 | c.1292C>G (p.Ala431Gly)
| |
12 | g.14507013G>T | CA383982083 | PLBD1 | c.1292C>A (p.Ala431Asp)
| |
12 | g.14507014C>A | CA383982085 | PLBD1 | c.1291G>T (p.Ala431Ser)
| |
12 | g.14507014C= | CA2017888359 | PLBD1 | c.1291G= (p.Ala431=)
| |
12 | g.14507014C>G | CA6462506 | PLBD1 | c.1291G>C (p.Ala431Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14507014C>T | CA383982086 | PLBD1 | c.1291G>A (p.Ala431Thr)
| |
12 | g.14507015T>A | CA383982087 | PLBD1 | c.1290A>T (p.Leu430Phe)
| |
12 | g.14507015T>C | CA478705031 | PLBD1 | c.1290A>G (p.Leu430=)
| |
12 | g.14507015T>G | CA383982088 | PLBD1 | c.1290A>C (p.Leu430Phe)
| gnomAD v4 |
12 | g.14507016A>C | CA383982089 | PLBD1 | c.1289T>G (p.Leu430Ter)
| |
12 | g.14507016A>G | CA383982090 | PLBD1 | c.1289T>C (p.Leu430Ser)
| |
12 | g.14507016A>T | CA383982091 | PLBD1 | c.1289T>A (p.Leu430Ter)
| |
12 | g.14507017A>C | CA383982092 | PLBD1 | c.1288T>G (p.Leu430Val)
| |
12 | g.14507017A>G | CA478705032 | PLBD1 | c.1288T>C (p.Leu430=)
| |
12 | g.14507017A>T | CA383982093 | PLBD1 | c.1288T>A (p.Leu430Ile)
| |
12 | g.14507018A= | CA2017888360 | PLBD1 | c.1287T= (p.Asp429=)
| |
12 | g.14507018A>C | CA383982094 | PLBD1 | c.1287T>G (p.Asp429Glu)
| gnomAD v4 |
12 | g.14507018A>G | CA478705035 | PLBD1 | c.1287T>C (p.Asp429=)
| |
12 | g.14507018A>T | CA383982095 | PLBD1 | c.1287T>A (p.Asp429Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14507019T>A | CA383982096 | PLBD1 | c.1286A>T (p.Asp429Val)
| |
12 | g.14507019T>C | CA383982098 | PLBD1 | c.1286A>G (p.Asp429Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507019T>G | CA383982097 | PLBD1 | c.1286A>C (p.Asp429Ala)
| |
12 | g.14507019T= | CA2017888361 | PLBD1 | c.1286A= (p.Asp429=)
| |
12 | g.14507020C>A | CA383982099 | PLBD1 | c.1285G>T (p.Asp429Tyr)
| |
12 | g.14507020C>G | CA383982101 | PLBD1 | c.1285G>C (p.Asp429His)
| |
12 | g.14507020C>T | CA383982100 | PLBD1 | c.1285G>A (p.Asp429Asn)
| |
12 | g.14507021A= | CA2017888362 | PLBD1 | c.1284T= (p.Tyr428=)
| |
12 | g.14507021A>C | CA383982102 | PLBD1 | c.1284T>G (p.Tyr428Ter)
| gnomAD v4 |
12 | g.14507021A>G | CA6462507 | PLBD1 | c.1284T>C (p.Tyr428=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507021A>T | CA383982103 | PLBD1 | c.1284T>A (p.Tyr428Ter)
| |
12 | g.14507022T>A | CA383982104 | PLBD1 | c.1283A>T (p.Tyr428Phe)
| |
12 | g.14507022T>C | CA383982105 | PLBD1 | c.1283A>G (p.Tyr428Cys)
| |
12 | g.14507022T>G | CA383982106 | PLBD1 | c.1283A>C (p.Tyr428Ser)
| |
12 | g.14507023A>C | CA383982107 | PLBD1 | c.1282T>G (p.Tyr428Asp)
| |
12 | g.14507023A>G | CA383982108 | PLBD1 | c.1282T>C (p.Tyr428His)
| |
12 | g.14507023A>T | CA383982109 | PLBD1 | c.1282T>A (p.Tyr428Asn)
| |
12 | g.14507024A= | CA2017888363 | PLBD1 | c.1281T= (p.Ser427=)
| |
12 | g.14507024A>C | CA478705042 | PLBD1 | c.1281T>G (p.Ser427=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507024A>G | CA6462508 | PLBD1 | c.1281T>C (p.Ser427=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.14507024A>T | CA478705040 | PLBD1 | c.1281T>A (p.Ser427=)
| |
12 | g.14507025G>A | CA383982110 | PLBD1 | c.1280C>T (p.Ser427Phe)
| |
12 | g.14507025G>C | CA383982111 | PLBD1 | c.1280C>G (p.Ser427Cys)
| dbSNP gnomAD v4 |
12 | g.14507025G= | CA2017888364 | PLBD1 | c.1280C= (p.Ser427=)
| |
12 | g.14507025G>T | CA383982112 | PLBD1 | c.1280C>A (p.Ser427Tyr)
| |
12 | g.14507026A>C | CA383982115 | PLBD1 | c.1279T>G (p.Ser427Ala)
| |
12 | g.14507026A>G | CA383982114 | PLBD1 | c.1279T>C (p.Ser427Pro)
| |
12 | g.14507026A>T | CA383982113 | PLBD1 | c.1279T>A (p.Ser427Thr)
| |
12 | g.14507027G>A | CA478705043 | PLBD1 | c.1278C>T (p.Tyr426=)
| |
12 | g.14507027G>C | CA383982116 | PLBD1 | c.1278C>G (p.Tyr426Ter)
| |
12 | g.14507027G>T | CA383982117 | PLBD1 | c.1278C>A (p.Tyr426Ter)
| |
12 | g.14507028T>A | CA383982118 | PLBD1 | c.1277A>T (p.Tyr426Phe)
| |
12 | g.14507028T>C | CA383982119 | PLBD1 | c.1277A>G (p.Tyr426Cys)
| |
12 | g.14507028T>G | CA383982120 | PLBD1 | c.1277A>C (p.Tyr426Ser)
| |
12 | g.14507029A>C | CA383982121 | PLBD1 | c.1276T>G (p.Tyr426Asp)
| |
12 | g.14507029A>G | CA383982122 | PLBD1 | c.1276T>C (p.Tyr426His)
| gnomAD v4 |
12 | g.14507029A>T | CA383982123 | PLBD1 | c.1276T>A (p.Tyr426Asn)
| |
12 | g.14507030G>A | CA478705053 | PLBD1 | c.1275C>T (p.Asp425=)
| dbSNP |
12 | g.14507030G>C | CA383982124 | PLBD1 | c.1275C>G (p.Asp425Glu)
| |
12 | g.14507030G= | CA2017888365 | PLBD1 | c.1275C= (p.Asp425=)
| |
12 | g.14507030G>T | CA383982125 | PLBD1 | c.1275C>A (p.Asp425Glu)
| |
12 | g.14507031T>A | CA383982126 | PLBD1 | c.1274A>T (p.Asp425Val)
| |
12 | g.14507031T>C | CA383982127 | PLBD1 | c.1274A>G (p.Asp425Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14507031T>G | CA383982128 | PLBD1 | c.1274A>C (p.Asp425Ala)
| |
12 | g.14507031T= | CA2017888366 | PLBD1 | c.1274A= (p.Asp425=)
| |
12 | g.14507032C>A | CA383982130 | PLBD1 | c.1273G>T (p.Asp425Tyr)
| |
12 | g.14507032C>G | CA383982131 | PLBD1 | c.1273G>C (p.Asp425His)
| |
12 | g.14507032C>T | CA383982129 | PLBD1 | c.1273G>A (p.Asp425Asn)
| |
12 | g.14507032_14507034dup | CA2617768291 | PLBD1 | c.1271_1273dup (p.Leu424_Asp425insVal)
| gnomAD v4 |
12 | g.14507033C>A | CA383982132 | PLBD1 | c.1272G>T (p.Leu424Phe)
| |
12 | g.14507033C= | CA2017888367 | PLBD1 | c.1272G= (p.Leu424=)
| |
12 | g.14507033C>G | CA383982133 | PLBD1 | c.1272G>C (p.Leu424Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507033C>T | CA478705057 | PLBD1 | c.1272G>A (p.Leu424=)
| gnomAD v4 |
12 | g.14507034A= | CA2017888368 | PLBD1 | c.1271T= (p.Leu424=)
| |
12 | g.14507034A>C | CA383982134 | PLBD1 | c.1271T>G (p.Leu424Trp)
| |
12 | g.14507034A>G | CA383982135 | PLBD1 | c.1271T>C (p.Leu424Ser)
| dbSNP gnomAD v4 |
12 | g.14507034A>T | CA383982136 | PLBD1 | c.1271T>A (p.Leu424Ter)
| |
12 | g.14507035A>C | CA383982137 | PLBD1 | c.1270T>G (p.Leu424Val)
| gnomAD v4 |
12 | g.14507035A>G | CA478705061 | PLBD1 | c.1270T>C (p.Leu424=)
| gnomAD v4 |
12 | g.14507035A>T | CA383982138 | PLBD1 | c.1270T>A (p.Leu424Met)
| |
12 | g.14507036G>A | CA478705063 | PLBD1 | c.1269C>T (p.Gly423=)
| |
12 | g.14507036G>C | CA478705064 | PLBD1 | c.1269C>G (p.Gly423=)
| |
12 | g.14507036G>T | CA478705062 | PLBD1 | c.1269C>A (p.Gly423=)
| |
12 | g.14507037C>A | CA383982139 | PLBD1 | c.1268G>T (p.Gly423Val)
| |
12 | g.14507037C>G | CA383982140 | PLBD1 | c.1268G>C (p.Gly423Ala)
| |
12 | g.14507037C>T | CA383982141 | PLBD1 | c.1268G>A (p.Gly423Asp)
| gnomAD v4 |
12 | g.14507038C>A | CA383982142 | PLBD1 | c.1267G>T (p.Gly423Cys)
| gnomAD v4 |
12 | g.14507038C= | CA2017888369 | PLBD1 | c.1267G= (p.Gly423=)
| |
12 | g.14507038C>G | CA383982143 | PLBD1 | c.1267G>C (p.Gly423Arg)
| |
12 | g.14507038C>T | CA233190429 | PLBD1 | c.1267G>A (p.Gly423Ser)
| ClinVar dbSNP gnomAD v4 |
12 | g.14507039C>A | CA478705066 | PLBD1 | c.1266G>T (p.Leu422=)
| |
12 | g.14507039C>G | CA478705068 | PLBD1 | c.1266G>C (p.Leu422=)
| |
12 | g.14507039C>T | CA478705067 | PLBD1 | c.1266G>A (p.Leu422=)
| |
12 | g.14507040A>C | CA383982144 | PLBD1 | c.1265T>G (p.Leu422Arg)
| |
12 | g.14507040A>G | CA383982146 | PLBD1 | c.1265T>C (p.Leu422Pro)
| COSMIC |
12 | g.14507040A>T | CA383982145 | PLBD1 | c.1265T>A (p.Leu422Gln)
| |
12 | g.14507041G>A | CA478705072 | PLBD1 | c.1264C>T (p.Leu422=)
| |
12 | g.14507041G>C | CA383982147 | PLBD1 | c.1264C>G (p.Leu422Val)
| |
12 | g.14507041G>T | CA383982148 | PLBD1 | c.1264C>A (p.Leu422Met)
| |
12 | g.14507042C>A | CA383982149 | PLBD1 | c.1263G>T (p.Lys421Asn)
| |
12 | g.14507042C>G | CA383982150 | PLBD1 | c.1263G>C (p.Lys421Asn)
| |
12 | g.14507042C>T | CA478705073 | PLBD1 | c.1263G>A (p.Lys421=)
| gnomAD v4 |
12 | g.14507043T>A | CA383982151 | PLBD1 | c.1262A>T (p.Lys421Met)
| |
12 | g.14507043T>C | CA383982152 | PLBD1 | c.1262A>G (p.Lys421Arg)
| |
12 | g.14507043T>G | CA383982153 | PLBD1 | c.1262A>C (p.Lys421Thr)
| |
12 | g.14507044T>A | CA383982154 | PLBD1 | c.1261A>T (p.Lys421Ter)
| gnomAD v4 |
12 | g.14507044T>C | CA383982155 | PLBD1 | c.1261A>G (p.Lys421Glu)
| |
12 | g.14507044T>G | CA383982156 | PLBD1 | c.1261A>C (p.Lys421Gln)
| |
12 | g.14507045C>A | CA383982158 | PLBD1 | c.1260G>T (p.Gln420His)
| |
12 | g.14507045C= | CA2017888370 | PLBD1 | c.1260G= (p.Gln420=)
| |
12 | g.14507045C>G | CA383982157 | PLBD1 | c.1260G>C (p.Gln420His)
| |
12 | g.14507045C>T | CA6462509 | PLBD1 | c.1260G>A (p.Gln420=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507046T>A | CA383982160 | PLBD1 | c.1259A>T (p.Gln420Leu)
| |
12 | g.14507046T>C | CA383982159 | PLBD1 | c.1259A>G (p.Gln420Arg)
| |
12 | g.14507046T>G | CA383982161 | PLBD1 | c.1259A>C (p.Gln420Pro)
| |
12 | g.14507047G>A | CA383982162 | PLBD1 | c.1258C>T (p.Gln420Ter)
| |
12 | g.14507047G>C | CA383982163 | PLBD1 | c.1258C>G (p.Gln420Glu)
| |
12 | g.14507047G>T | CA383982164 | PLBD1 | c.1258C>A (p.Gln420Lys)
| |
12 | g.14507048A>C | CA478705079 | PLBD1 | c.1257T>G (p.Val419=)
| |
12 | g.14507048A>G | CA478705078 | PLBD1 | c.1257T>C (p.Val419=)
| |
12 | g.14507048A>T | CA478705080 | PLBD1 | c.1257T>A (p.Val419=)
| |
12 | g.14507051_14507054del | CA2617768292 | PLBD1 | c.1254_1257del (p.Leu418PhefsTer12)
| gnomAD v4 |
12 | g.14507049A= | CA2017888371 | PLBD1 | c.1256T= (p.Val419=)
| |
12 | g.14507049A>C | CA383982165 | PLBD1 | c.1256T>G (p.Val419Gly)
| |
12 | g.14507049A>G | CA233190432 | PLBD1 | c.1256T>C (p.Val419Ala)
| dbSNP gnomAD v4 |
12 | g.14507049A>T | CA383982166 | PLBD1 | c.1256T>A (p.Val419Asp)
| |
12 | g.14507050C>A | CA383982167 | PLBD1 | c.1255G>T (p.Val419Phe)
| |
12 | g.14507050C= | CA2017888372 | PLBD1 | c.1255G= (p.Val419=)
| |
12 | g.14507050C>G | CA233190435 | PLBD1 | c.1255G>C (p.Val419Leu)
| dbSNP |
12 | g.14507050C>T | CA383982168 | PLBD1 | c.1255G>A (p.Val419Ile)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14507051T>A | CA383982169 | PLBD1 | c.1254A>T (p.Leu418Phe)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.14507051T>C | CA478705085 | PLBD1 | c.1254A>G (p.Leu418=)
| gnomAD v4 |
12 | g.14507051T>G | CA383982170 | PLBD1 | c.1254A>C (p.Leu418Phe)
| |
12 | g.14507051T= | CA2017888373 | PLBD1 | c.1254A= (p.Leu418=)
| |
12 | g.14507052A>C | CA383982171 | PLBD1 | c.1253T>G (p.Leu418Ter)
| |
12 | g.14507052A>G | CA383982172 | PLBD1 | c.1253T>C (p.Leu418Ser)
| |
12 | g.14507052A>T | CA383982173 | PLBD1 | c.1253T>A (p.Leu418Ter)
| |
12 | g.14507053A>C | CA383982174 | PLBD1 | c.1252T>G (p.Leu418Val)
| |
12 | g.14507053A>G | CA478705086 | PLBD1 | c.1252T>C (p.Leu418=)
| |
12 | g.14507053A>T | CA383982175 | PLBD1 | c.1252T>A (p.Leu418Ile)
| |
12 | g.14507054C>A | CA478705090 | PLBD1 | c.1251G>T (p.Leu417=)
| |
12 | g.14507054C>G | CA478705088 | PLBD1 | c.1251G>C (p.Leu417=)
| |
12 | g.14507054C>T | CA478705089 | PLBD1 | c.1251G>A (p.Leu417=)
| |
12 | g.14507055A= | CA2017888374 | PLBD1 | c.1250T= (p.Leu417=)
| |
12 | g.14507055A>C | CA383982176 | PLBD1 | c.1250T>G (p.Leu417Arg)
| |
12 | g.14507055A>G | CA383982177 | PLBD1 | c.1250T>C (p.Leu417Pro)
| dbSNP |
12 | g.14507055A>T | CA383982178 | PLBD1 | c.1250T>A (p.Leu417Gln)
| |
12 | g.14507056G>A | CA478705093 | PLBD1 | c.1249C>T (p.Leu417=)
| gnomAD v4 |
12 | g.14507056G>C | CA383982179 | PLBD1 | c.1249C>G (p.Leu417Val)
| |
12 | g.14507056G>T | CA383982180 | PLBD1 | c.1249C>A (p.Leu417Met)
| |
12 | g.14507057T>A | CA478705094 | PLBD1 | c.1248A>T (p.Pro416=)
| dbSNP |
12 | g.14507057T>C | CA6462510 | PLBD1 | c.1248A>G (p.Pro416=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507057T>G | CA478705095 | PLBD1 | c.1248A>C (p.Pro416=)
| gnomAD v4 |
12 | g.14507057T= | CA2017888375 | PLBD1 | c.1248A= (p.Pro416=)
| |
12 | g.14507058G>A | CA383982181 | PLBD1 | c.1247C>T (p.Pro416Leu)
| |
12 | g.14507058G>C | CA383982182 | PLBD1 | c.1247C>G (p.Pro416Arg)
| |
12 | g.14507058G>T | CA383982183 | PLBD1 | c.1247C>A (p.Pro416Gln)
| |
12 | g.14507058_14507059insTAAGCACGTCAATGGG | CA2617768293 | PLBD1 | c.1247_1248insCCATTGACGTGCTTAC (p.Leu417HisfsTer2)
| gnomAD v4 |
12 | g.14507059G>A | CA383982184 | PLBD1 | c.1246C>T (p.Pro416Ser)
| |
12 | g.14507059G>C | CA6462511 | PLBD1 | c.1246C>G (p.Pro416Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507059G= | CA2017888376 | PLBD1 | c.1246C= (p.Pro416=)
| |
12 | g.14507059G>T | CA383982185 | PLBD1 | c.1246C>A (p.Pro416Thr)
| |
12 | g.14507060_14507063dup | CA2617768294 | PLBD1 | c.1243_1246dup (p.Pro416LeufsTer15)
| gnomAD v4 |
12 | g.14507060A>C | CA383982186 | PLBD1 | c.1245T>G (p.Tyr415Ter)
| |
12 | g.14507060A>G | CA478705097 | PLBD1 | c.1245T>C (p.Tyr415=)
| gnomAD v4 |
12 | g.14507060A>T | CA383982187 | PLBD1 | c.1245T>A (p.Tyr415Ter)
| |
12 | g.14507060_14507061insGGGAGAGGAGAAGTCCATAATG | CA2617768295 | PLBD1 | c.1244_1245insCATTATGGACTTCTCCTCTCCC (p.Pro416IlefsTer21)
| gnomAD v4 |
12 | g.14507061T>A | CA383982188 | PLBD1 | c.1244A>T (p.Tyr415Phe)
| |
12 | g.14507061T>C | CA383982189 | PLBD1 | c.1244A>G (p.Tyr415Cys)
| |
12 | g.14507061T>G | CA383982190 | PLBD1 | c.1244A>C (p.Tyr415Ser)
| |
12 | g.14507062A>C | CA383982191 | PLBD1 | c.1243T>G (p.Tyr415Asp)
| |
12 | g.14507062A>G | CA383982192 | PLBD1 | c.1243T>C (p.Tyr415His)
| |
12 | g.14507062A>T | CA383982193 | PLBD1 | c.1243T>A (p.Tyr415Asn)
| gnomAD v4 |
12 | g.14507063G>A | CA6462513 | PLBD1 | c.1242C>T (p.Gly414=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507063G>C | CA6462512 | PLBD1 | c.1242C>G (p.Gly414=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.14507063G= | CA2017888377 | PLBD1 | c.1242C= (p.Gly414=)
| |
12 | g.14507063G>T | CA478705100 | PLBD1 | c.1242C>A (p.Gly414=)
| |
12 | g.14507064C>A | CA383982194 | PLBD1 | c.1241G>T (p.Gly414Val)
| |
12 | g.14507064C= | CA2017888378 | PLBD1 | c.1241G= (p.Gly414=)
| |
12 | g.14507064C>G | CA383982195 | PLBD1 | c.1241G>C (p.Gly414Ala)
| dbSNP |
12 | g.14507064C>T | CA6462514 | PLBD1 | c.1241G>A (p.Gly414Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.14507065C>A | CA383982196 | PLBD1 | c.1240G>T (p.Gly414Cys)
| |
12 | g.14507065C= | CA2017888379 | PLBD1 | c.1240G= (p.Gly414=)
| |
12 | g.14507065C>G | CA383982197 | PLBD1 | c.1240G>C (p.Gly414Arg)
| |
12 | g.14507065C>T | CA383982198 | PLBD1 | c.1240G>A (p.Gly414Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14507066A>C | CA383982199 | PLBD1 | c.1239T>G (p.Ser413Arg)
| |
12 | g.14507066A>G | CA478705104 | PLBD1 | c.1239T>C (p.Ser413=)
| |
12 | g.14507066A>T | CA383982200 | PLBD1 | c.1239T>A (p.Ser413Arg)
| |
12 | g.14507067C>A | CA383982201 | PLBD1 | c.1238G>T (p.Ser413Ile)
| |
12 | g.14507067C>G | CA383982202 | PLBD1 | c.1238G>C (p.Ser413Thr)
| |
12 | g.14507067C>T | CA383982203 | PLBD1 | c.1238G>A (p.Ser413Asn)
| gnomAD v4 |
12 | g.14507068T>A | CA383982204 | PLBD1 | c.1237A>T (p.Ser413Cys)
| |
12 | g.14507068T>C | CA233190490 | PLBD1 | c.1237A>G (p.Ser413Gly)
| dbSNP |
12 | g.14507068T>G | CA383982205 | PLBD1 | c.1237A>C (p.Ser413Arg)
| |
12 | g.14507068T= | CA2017888380 | PLBD1 | c.1237A= (p.Ser413=)
| |
12 | g.14507069C>A | CA383982206 | PLBD1 | c.1236G>T (p.Trp412Cys)
| |
12 | g.14507069C= | CA2017888381 | PLBD1 | c.1236G= (p.Trp412=)
| |
12 | g.14507069C>G | CA383982207 | PLBD1 | c.1236G>C (p.Trp412Cys)
| gnomAD v4 |
12 | g.14507069C>T | CA383982208 | PLBD1 | c.1236G>A (p.Trp412Ter)
| dbSNP gnomAD v4 |
12 | g.14507070del | CA2617768296 | PLBD1 | c.1236del (p.Trp412Ter)
| gnomAD v4 |
12 | g.14507070C>A | CA383982209 | PLBD1 | c.1235G>T (p.Trp412Leu)
| dbSNP |
12 | g.14507070C= | CA2017888382 | PLBD1 | c.1235G= (p.Trp412=)
| |
12 | g.14507070C>G | CA383982210 | PLBD1 | c.1235G>C (p.Trp412Ser)
| |
12 | g.14507070C>T | CA383982211 | PLBD1 | c.1235G>A (p.Trp412Ter)
| |
12 | g.14507071A= | CA2017888383 | PLBD1 | c.1234T= (p.Trp412=)
| |
12 | g.14507071A>C | CA383982213 | PLBD1 | c.1234T>G (p.Trp412Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.14507071A>G | CA383982214 | PLBD1 | c.1234T>C (p.Trp412Arg)
| gnomAD v4 |
12 | g.14507071A>T | CA383982212 | PLBD1 | c.1234T>A (p.Trp412Arg)
| |
12 | g.14507072G>A | CA478705108 | PLBD1 | c.1233C>T (p.Asn411=)
| |
12 | g.14507072G>C | CA383982215 | PLBD1 | c.1233C>G (p.Asn411Lys)
| dbSNP |
12 | g.14507072G= | CA2017888384 | PLBD1 | c.1233C= (p.Asn411=)
| |
12 | g.14507072G>T | CA383982216 | PLBD1 | c.1233C>A (p.Asn411Lys)
| |
12 | g.14507073T>A | CA383982217 | PLBD1 | c.1232A>T (p.Asn411Ile)
| |
12 | g.14507073T>C | CA383982219 | PLBD1 | c.1232A>G (p.Asn411Ser)
| dbSNP gnomAD v4 |
12 | g.14507073T>G | CA383982218 | PLBD1 | c.1232A>C (p.Asn411Thr)
| |
12 | g.14507073T= | CA2017888385 | PLBD1 | c.1232A= (p.Asn411=)
| |
12 | g.14507074T>A | CA383982220 | PLBD1 | c.1231A>T (p.Asn411Tyr)
| |
12 | g.14507074T>C | CA383982221 | PLBD1 | c.1231A>G (p.Asn411Asp)
| |
12 | g.14507074T>G | CA383982222 | PLBD1 | c.1231A>C (p.Asn411His)
| |
12 | g.14507075G>A | CA478705110 | PLBD1 | c.1230C>T (p.Tyr410=)
| |
12 | g.14507075G>C | CA383982223 | PLBD1 | c.1230C>G (p.Tyr410Ter)
| |
12 | g.14507075G>T | CA383982224 | PLBD1 | c.1230C>A (p.Tyr410Ter)
| gnomAD v4 |
12 | g.14507076T>A | CA383982225 | PLBD1 | c.1229A>T (p.Tyr410Phe)
| |
12 | g.14507076T>C | CA383982226 | PLBD1 | c.1229A>G (p.Tyr410Cys)
| dbSNP gnomAD v4 |
12 | g.14507076T>G | CA383982227 | PLBD1 | c.1229A>C (p.Tyr410Ser)
| |