Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.14506917G>C	CA233190195	PLBD1	c.1372+16C>G (n.1372+16C>G)	dbSNP gnomAD v3 gnomAD v4
12	g.14506917G=	CA2017888307	PLBD1	c.1372+16C= (n.1372+16C=)
12	g.14506918A=	CA2017888308	PLBD1	c.1372+15T= (n.1372+15T=)
12	g.14506918A>G	CA233190201	PLBD1	c.1372+15T>C (n.1372+15T>C)	dbSNP gnomAD v2 gnomAD v4
12	g.14506922A=	CA2017888309	PLBD1	c.1372+11T= (n.1372+11T=)
12	g.14506922A>G	CA6462476	PLBD1	c.1372+11T>C (n.1372+11T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506923T>A	CA6462477	PLBD1	c.1372+10A>T (n.1372+10A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506923T>C	CA6462478	PLBD1	c.1372+10A>G (n.1372+10A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506923T=	CA2017888310	PLBD1	c.1372+10A= (n.1372+10A=)
12	g.14506925C=	CA2017888311	PLBD1	c.1372+8G= (n.1372+8G=)
12	g.14506925C>T	CA2017888312	PLBD1	c.1372+8G>A (n.1372+8G>A)	dbSNP gnomAD v4
12	g.14506926T>C	CA6462479	PLBD1	c.1372+7A>G (n.1372+7A>G)	dbSNP ExAC gnomAD v2
12	g.14506926T=	CA2017888313	PLBD1	c.1372+7A= (n.1372+7A=)
12	g.14506927A=	CA2017888314	PLBD1	c.1372+6T= (n.1372+6T=)
12	g.14506927A>G	CA603609429	PLBD1	c.1372+6T>C (n.1372+6T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506928C=	CA2017888315	PLBD1	c.1372+5G= (n.1372+5G=)
12	g.14506928C>T	CA6462480	PLBD1	c.1372+5G>A (n.1372+5G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506929G>A	CA6462481	PLBD1	c.1372+4C>T (n.1372+4C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506929G=	CA2017888316	PLBD1	c.1372+4C= (n.1372+4C=)
12	g.14506929G>T	CA2617768285	PLBD1	c.1372+4C>A (n.1372+4C>A)	gnomAD v4
12	g.14506930T>A	CA2617768286	PLBD1	c.1372+3A>T (n.1372+3A>T)	gnomAD v4
12	g.14506930T>C	CA2617768287	PLBD1	c.1372+3A>G (n.1372+3A>G)	gnomAD v4
12	g.14506931A>C	CA383981911	PLBD1	c.1372+2T>G (n.1372+2T>G)
12	g.14506931A>G	CA383981912	PLBD1	c.1372+2T>C (n.1372+2T>C)	dbSNP
12	g.14506931A>T	CA383981913	PLBD1	c.1372+2T>A (n.1372+2T>A)
12	g.14506932C>A	CA383981914	PLBD1	c.1372+1G>T (n.1372+1G>T)
12	g.14506932C=	CA2017888317	PLBD1	c.1372+1G= (n.1372+1G=)
12	g.14506932C>G	CA383981915	PLBD1	c.1372+1G>C (n.1372+1G>C)	dbSNP gnomAD v2 gnomAD v4
12	g.14506932C>T	CA383981916	PLBD1	c.1372+1G>A (n.1372+1G>A)
12	g.14506933T>A	CA383981917	PLBD1	c.1372A>T (p.Asn458Tyr)
12	g.14506933T>C	CA383981918	PLBD1	c.1372A>G (p.Asn458Asp)
12	g.14506933T>G	CA6462482	PLBD1	c.1372A>C (p.Asn458His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506933T=	CA2017888318	PLBD1	c.1372A= (p.Asn458=)
12	g.14506934G>A	CA478704974	PLBD1	c.1371C>T (p.Asn457=)
12	g.14506934G>C	CA233190270	PLBD1	c.1371C>G (p.Asn457Lys)	dbSNP
12	g.14506934G=	CA2017888319	PLBD1	c.1371C= (p.Asn457=)
12	g.14506934G>T	CA383981919	PLBD1	c.1371C>A (p.Asn457Lys)
12	g.14506935T>A	CA383981920	PLBD1	c.1370A>T (p.Asn457Ile)
12	g.14506935T>C	CA383981921	PLBD1	c.1370A>G (p.Asn457Ser)	gnomAD v4
12	g.14506935T>G	CA383981922	PLBD1	c.1370A>C (p.Asn457Thr)
12	g.14506936T>A	CA383981923	PLBD1	c.1369A>T (p.Asn457Tyr)
12	g.14506936T>C	CA383981924	PLBD1	c.1369A>G (p.Asn457Asp)	gnomAD v4
12	g.14506936T>G	CA383981925	PLBD1	c.1369A>C (p.Asn457His)
12	g.14506937G>A	CA478704975	PLBD1	c.1368C>T (p.Tyr456=)
12	g.14506937G>C	CA383981926	PLBD1	c.1368C>G (p.Tyr456Ter)	gnomAD v4
12	g.14506937G>T	CA383981927	PLBD1	c.1368C>A (p.Tyr456Ter)	gnomAD v4
12	g.14506938T>A	CA383981928	PLBD1	c.1367A>T (p.Tyr456Phe)
12	g.14506938T>C	CA383981929	PLBD1	c.1367A>G (p.Tyr456Cys)
12	g.14506938T>G	CA383981930	PLBD1	c.1367A>C (p.Tyr456Ser)
12	g.14506939A>C	CA383981933	PLBD1	c.1366T>G (p.Tyr456Asp)
12	g.14506939A>G	CA383981932	PLBD1	c.1366T>C (p.Tyr456His)
12	g.14506939A>T	CA383981931	PLBD1	c.1366T>A (p.Tyr456Asn)
12	g.14506940T>A	CA6462483	PLBD1	c.1365A>T (p.Arg455=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506940T>C	CA478704976	PLBD1	c.1365A>G (p.Arg455=)	dbSNP gnomAD v2 gnomAD v4
12	g.14506940T>G	CA478704977	PLBD1	c.1365A>C (p.Arg455=)
12	g.14506940T=	CA2017888320	PLBD1	c.1365A= (p.Arg455=)
12	g.14506941C>A	CA233190271	PLBD1	c.1364G>T (p.Arg455Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506941C=	CA2017888321	PLBD1	c.1364G= (p.Arg455=)
12	g.14506941C>G	CA383981934	PLBD1	c.1364G>C (p.Arg455Pro)
12	g.14506941C>T	CA6462484	PLBD1	c.1364G>A (p.Arg455Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506942G>A	CA6462485	PLBD1	c.1363C>T (p.Arg455Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.14506942G>C	CA383981935	PLBD1	c.1363C>G (p.Arg455Gly)
12	g.14506942G=	CA2017888322	PLBD1	c.1363C= (p.Arg455=)
12	g.14506942G>T	CA478704978	PLBD1	c.1363C>A (p.Arg455=)	gnomAD v4
12	g.14506943C>A	CA383981936	PLBD1	c.1362G>T (p.Met454Ile)
12	g.14506943C>G	CA383981937	PLBD1	c.1362G>C (p.Met454Ile)
12	g.14506943C>T	CA383981938	PLBD1	c.1362G>A (p.Met454Ile)	gnomAD v4
12	g.14506944A=	CA2017888323	PLBD1	c.1361T= (p.Met454=)
12	g.14506944A>C	CA383981939	PLBD1	c.1361T>G (p.Met454Arg)
12	g.14506944A>G	CA383981940	PLBD1	c.1361T>C (p.Met454Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.14506944A>T	CA383981941	PLBD1	c.1361T>A (p.Met454Lys)	gnomAD v4
12	g.14506945T>A	CA383981942	PLBD1	c.1360A>T (p.Met454Leu)
12	g.14506945T>C	CA383981943	PLBD1	c.1360A>G (p.Met454Val)
12	g.14506945T>G	CA383981944	PLBD1	c.1360A>C (p.Met454Leu)
12	g.14506946G>A	CA233190288	PLBD1	c.1359C>T (p.Ile453=)	dbSNP gnomAD v4
12	g.14506946G>C	CA383981945	PLBD1	c.1359C>G (p.Ile453Met)
12	g.14506946G=	CA2017888324	PLBD1	c.1359C= (p.Ile453=)
12	g.14506946G>T	CA478704979	PLBD1	c.1359C>A (p.Ile453=)
12	g.14506947A=	CA2017888325	PLBD1	c.1358T= (p.Ile453=)
12	g.14506947A>C	CA383981946	PLBD1	c.1358T>G (p.Ile453Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.14506947A>G	CA383981947	PLBD1	c.1358T>C (p.Ile453Thr)
12	g.14506947A>T	CA383981948	PLBD1	c.1358T>A (p.Ile453Asn)
12	g.14506948T>A	CA383981949	PLBD1	c.1357A>T (p.Ile453Phe)
12	g.14506948T>C	CA383981950	PLBD1	c.1357A>G (p.Ile453Val)
12	g.14506948T>G	CA383981951	PLBD1	c.1357A>C (p.Ile453Leu)
12	g.14506949A=	CA2017888326	PLBD1	c.1356T= (p.Tyr452=)
12	g.14506949A>C	CA383981952	PLBD1	c.1356T>G (p.Tyr452Ter)
12	g.14506949A>G	CA6462486	PLBD1	c.1356T>C (p.Tyr452=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506949A>T	CA6462487	PLBD1	c.1356T>A (p.Tyr452Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506950T>A	CA383981953	PLBD1	c.1355A>T (p.Tyr452Phe)
12	g.14506950T>C	CA383981954	PLBD1	c.1355A>G (p.Tyr452Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506950T>G	CA383981955	PLBD1	c.1355A>C (p.Tyr452Ser)
12	g.14506950T=	CA2017888327	PLBD1	c.1355A= (p.Tyr452=)
12	g.14506951A>C	CA383981958	PLBD1	c.1354T>G (p.Tyr452Asp)
12	g.14506951A>G	CA383981957	PLBD1	c.1354T>C (p.Tyr452His)
12	g.14506951A>T	CA383981956	PLBD1	c.1354T>A (p.Tyr452Asn)
12	g.14506952T>A	CA383981959	PLBD1	c.1353A>T (p.Lys451Asn)
12	g.14506952T>C	CA478704980	PLBD1	c.1353A>G (p.Lys451=)
12	g.14506952T>G	CA383981960	PLBD1	c.1353A>C (p.Lys451Asn)
12	g.14506953T>A	CA383981961	PLBD1	c.1352A>T (p.Lys451Ile)
12	g.14506953T>C	CA383981962	PLBD1	c.1352A>G (p.Lys451Arg)
12	g.14506953T>G	CA383981963	PLBD1	c.1352A>C (p.Lys451Thr)
12	g.14506954T>A	CA383981966	PLBD1	c.1351A>T (p.Lys451Ter)
12	g.14506954T>C	CA383981965	PLBD1	c.1351A>G (p.Lys451Glu)	gnomAD v4
12	g.14506954T>G	CA383981964	PLBD1	c.1351A>C (p.Lys451Gln)
12	g.14506955C>A	CA383981967	PLBD1	c.1350G>T (p.Met450Ile)	dbSNP gnomAD v2
12	g.14506955C=	CA2017888328	PLBD1	c.1350G= (p.Met450=)
12	g.14506955C>G	CA383981968	PLBD1	c.1350G>C (p.Met450Ile)
12	g.14506955C>T	CA383981969	PLBD1	c.1350G>A (p.Met450Ile)	COSMIC
12	g.14506956A=	CA2017888329	PLBD1	c.1349T= (p.Met450=)
12	g.14506956A>C	CA383981970	PLBD1	c.1349T>G (p.Met450Arg)
12	g.14506956A>G	CA6462488	PLBD1	c.1349T>C (p.Met450Thr)	dbSNP ExAC gnomAD v2
12	g.14506956A>T	CA383981971	PLBD1	c.1349T>A (p.Met450Lys)
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)

Number of alleles fetched