Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.14506957T>A	CA383981972	PLBD1	c.1348A>T (p.Met450Leu)
12	g.14506957T>C	CA383981974	PLBD1	c.1348A>G (p.Met450Val)	dbSNP gnomAD v3 gnomAD v4
12	g.14506957T>G	CA383981973	PLBD1	c.1348A>C (p.Met450Leu)
12	g.14506957T=	CA2017888330	PLBD1	c.1348A= (p.Met450=)
12	g.14506958G>A	CA478704981	PLBD1	c.1347C>T (p.Ser449=)	dbSNP
12	g.14506958G>C	CA478704983	PLBD1	c.1347C>G (p.Ser449=)
12	g.14506958G=	CA2017888331	PLBD1	c.1347C= (p.Ser449=)
12	g.14506958G>T	CA478704982	PLBD1	c.1347C>A (p.Ser449=)
12	g.14506959G>A	CA383981975	PLBD1	c.1346C>T (p.Ser449Phe)
12	g.14506959G>C	CA383981976	PLBD1	c.1346C>G (p.Ser449Cys)
12	g.14506959G>T	CA383981977	PLBD1	c.1346C>A (p.Ser449Tyr)	COSMIC
12	g.14506960A>C	CA383981978	PLBD1	c.1345T>G (p.Ser449Ala)
12	g.14506960A>G	CA383981979	PLBD1	c.1345T>C (p.Ser449Pro)	gnomAD v4
12	g.14506960A>T	CA383981980	PLBD1	c.1345T>A (p.Ser449Thr)
12	g.14506961T>A	CA478704986	PLBD1	c.1344A>T (p.Ala448=)
12	g.14506961T>C	CA478704984	PLBD1	c.1344A>G (p.Ala448=)
12	g.14506961T>G	CA478704985	PLBD1	c.1344A>C (p.Ala448=)	gnomAD v3 gnomAD v4
12	g.14506962G>A	CA383981981	PLBD1	c.1343C>T (p.Ala448Val)	gnomAD v4
12	g.14506962G>C	CA383981982	PLBD1	c.1343C>G (p.Ala448Gly)
12	g.14506962G=	CA2017888332	PLBD1	c.1343C= (p.Ala448=)
12	g.14506962G>T	CA383981983	PLBD1	c.1343C>A (p.Ala448Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.14506963C>A	CA383981984	PLBD1	c.1342G>T (p.Ala448Ser)
12	g.14506963C>G	CA383981985	PLBD1	c.1342G>C (p.Ala448Pro)
12	g.14506963C>T	CA383981986	PLBD1	c.1342G>A (p.Ala448Thr)
12	g.14506964C>A	CA478704987	PLBD1	c.1341G>T (p.Thr447=)	gnomAD v4
12	g.14506964C=	CA2017888333	PLBD1	c.1341G= (p.Thr447=)
12	g.14506964C>G	CA478704988	PLBD1	c.1341G>C (p.Thr447=)	gnomAD v4
12	g.14506964C>T	CA6462489	PLBD1	c.1341G>A (p.Thr447=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506965G>A	CA6462490	PLBD1	c.1340C>T (p.Thr447Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506965G>C	CA383981987	PLBD1	c.1340C>G (p.Thr447Arg)	dbSNP gnomAD v4
12	g.14506965G=	CA2017888334	PLBD1	c.1340C= (p.Thr447=)
12	g.14506965G>T	CA383981988	PLBD1	c.1340C>A (p.Thr447Lys)	gnomAD v4
12	g.14506966T>A	CA383981989	PLBD1	c.1339A>T (p.Thr447Ser)
12	g.14506966T>C	CA383981990	PLBD1	c.1339A>G (p.Thr447Ala)
12	g.14506966T>G	CA383981991	PLBD1	c.1339A>C (p.Thr447Pro)
12	g.14506966dup	CA6462491	PLBD1	c.1339dup (p.Thr447AsnfsTer14)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506967A>C	CA383981992	PLBD1	c.1338T>G (p.Asp446Glu)
12	g.14506967A>G	CA478704989	PLBD1	c.1338T>C (p.Asp446=)	gnomAD v3 gnomAD v4
12	g.14506967A>T	CA383981993	PLBD1	c.1338T>A (p.Asp446Glu)
12	g.14506968T>A	CA383981996	PLBD1	c.1337A>T (p.Asp446Val)
12	g.14506968T>C	CA383981995	PLBD1	c.1337A>G (p.Asp446Gly)
12	g.14506968T>G	CA383981994	PLBD1	c.1337A>C (p.Asp446Ala)
12	g.14506969C>A	CA383981997	PLBD1	c.1336G>T (p.Asp446Tyr)
12	g.14506969C>G	CA383981998	PLBD1	c.1336G>C (p.Asp446His)
12	g.14506969C>T	CA383981999	PLBD1	c.1336G>A (p.Asp446Asn)	COSMIC
12	g.14506970A=	CA2017888335	PLBD1	c.1335T= (p.Thr445=)
12	g.14506970A>C	CA478704990	PLBD1	c.1335T>G (p.Thr445=)	dbSNP gnomAD v3 gnomAD v4
12	g.14506970A>G	CA478704992	PLBD1	c.1335T>C (p.Thr445=)
12	g.14506970A>T	CA478704991	PLBD1	c.1335T>A (p.Thr445=)
12	g.14506971G>A	CA383982000	PLBD1	c.1334C>T (p.Thr445Ile)	gnomAD v4
12	g.14506971G>C	CA383982001	PLBD1	c.1334C>G (p.Thr445Ser)
12	g.14506971G>T	CA383982002	PLBD1	c.1334C>A (p.Thr445Asn)
12	g.14506976_14506989del	CA2617768288	PLBD1	c.1321_1334del (p.Gln441Ter)	gnomAD v4
12	g.14506972T>A	CA383982003	PLBD1	c.1333A>T (p.Thr445Ser)
12	g.14506972T>C	CA383982005	PLBD1	c.1333A>G (p.Thr445Ala)
12	g.14506972T>G	CA383982004	PLBD1	c.1333A>C (p.Thr445Pro)
12	g.14506973C>A	CA478704994	PLBD1	c.1332G>T (p.Val444=)	gnomAD v4
12	g.14506973C=	CA2017888336	PLBD1	c.1332G= (p.Val444=)
12	g.14506973C>G	CA478704995	PLBD1	c.1332G>C (p.Val444=)
12	g.14506973C>T	CA478704996	PLBD1	c.1332G>A (p.Val444=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.14506974A>C	CA383982006	PLBD1	c.1331T>G (p.Val444Gly)
12	g.14506974A>G	CA383982007	PLBD1	c.1331T>C (p.Val444Ala)
12	g.14506974A>T	CA383982008	PLBD1	c.1331T>A (p.Val444Glu)
12	g.14506975C>A	CA383982009	PLBD1	c.1330G>T (p.Val444Leu)	COSMIC
12	g.14506975C=	CA2017888337	PLBD1	c.1330G= (p.Val444=)
12	g.14506975C>G	CA6462492	PLBD1	c.1330G>C (p.Val444Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506975C>T	CA383982010	PLBD1	c.1330G>A (p.Val444Met)	dbSNP 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=)

Number of alleles fetched