Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.14506876A>G	CA2617768270	PLBD1	c.1372+57T>C (n.1372+57T>C)	gnomAD v4
12	g.14506879C>A	CA2617768271	PLBD1	c.1372+54G>T (n.1372+54G>T)	gnomAD v4
12	g.14506879C>T	CA2617768272	PLBD1	c.1372+54G>A (n.1372+54G>A)	gnomAD v4
12	g.14506880A>G	CA2617768273	PLBD1	c.1372+53T>C (n.1372+53T>C)	gnomAD v4
12	g.14506880A>T	CA2617768274	PLBD1	c.1372+53T>A (n.1372+53T>A)	gnomAD v4
12	g.14506881T>C	CA233190091	PLBD1	c.1372+52A>G (n.1372+52A>G)	dbSNP
12	g.14506881T=	CA2017888288	PLBD1	c.1372+52A= (n.1372+52A=)
12	g.14506882A>G	CA2538782910	PLBD1	c.1372+51T>C (n.1372+51T>C)
12	g.14506883G>A	CA2572142947	PLBD1	c.1372+50C>T (n.1372+50C>T)
12	g.14506884G>A	CA603609419	PLBD1	c.1372+49C>T (n.1372+49C>T)	dbSNP gnomAD v2 gnomAD v4
12	g.14506884G=	CA2017888289	PLBD1	c.1372+49C= (n.1372+49C=)
12	g.14506885G>A	CA2017888292	PLBD1	c.1372+48C>T (n.1372+48C>T)	dbSNP gnomAD v4
12	g.14506885G=	CA2017888291	PLBD1	c.1372+48C= (n.1372+48C=)
12	g.14506885G>T	CA2575086458	PLBD1	c.1372+48C>A (n.1372+48C>A)
12	g.14506885_14506890delinsGAAGAA	CA2017888290	PLBD1	c.1372+43_1372+48delinsTTCTTC (n.1372+43_1372+48delinsTTCTTC)
12	g.14506889_14506893del	CA603609421	PLBD1	c.1372+43_1372+47del (n.1372+43_1372+47del)	dbSNP gnomAD v2 gnomAD v4
12	g.14506887A=	CA2017888294	PLBD1	c.1372+46T= (n.1372+46T=)
12	g.14506887A>C	CA2617768275	PLBD1	c.1372+46T>G (n.1372+46T>G)	gnomAD v4
12	g.14506887A>G	CA2017888293	PLBD1	c.1372+46T>C (n.1372+46T>C)	dbSNP
12	g.14506888G>T	CA2617768276	PLBD1	c.1372+45C>A (n.1372+45C>A)	gnomAD v4
12	g.14506892dup	CA2617768277	PLBD1	c.1372+44dup (n.1372+44dup)	gnomAD v4
12	g.14506892del	CA2617768278	PLBD1	c.1372+44del (n.1372+44del)	gnomAD v4
12	g.14506890A>G	CA2617768279	PLBD1	c.1372+43T>C (n.1372+43T>C)	gnomAD v4
12	g.14506891A=	CA2017888295	PLBD1	c.1372+42T= (n.1372+42T=)
12	g.14506891A>G	CA6462468	PLBD1	c.1372+42T>C (n.1372+42T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506891A>T	CA603609423	PLBD1	c.1372+42T>A (n.1372+42T>A)	dbSNP gnomAD v2 gnomAD v4
12	g.14506892A=	CA2017888296	PLBD1	c.1372+41T= (n.1372+41T=)
12	g.14506892A>G	CA603609424	PLBD1	c.1372+41T>C (n.1372+41T>C)	dbSNP gnomAD v2 gnomAD v4
12	g.14506893G>C	CA2617768280	PLBD1	c.1372+40C>G (n.1372+40C>G)	gnomAD v4
12	g.14506894G>C	CA2544339388	PLBD1	c.1372+39C>G (n.1372+39C>G)
12	g.14506895A=	CA2017888297	PLBD1	c.1372+38T= (n.1372+38T=)
12	g.14506895A>G	CA6462469	PLBD1	c.1372+38T>C (n.1372+38T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506896G>A	CA603609426	PLBD1	c.1372+37C>T (n.1372+37C>T)	dbSNP gnomAD v2 gnomAD v4
12	g.14506896G=	CA2017888298	PLBD1	c.1372+37C= (n.1372+37C=)
12	g.14506896G>T	CA2617768281	PLBD1	c.1372+37C>A (n.1372+37C>A)	gnomAD v4
12	g.14506897T>A	CA2617768282	PLBD1	c.1372+36A>T (n.1372+36A>T)	gnomAD v4
12	g.14506899T>C	CA6462470	PLBD1	c.1372+34A>G (n.1372+34A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506899T=	CA2017888299	PLBD1	c.1372+34A= (n.1372+34A=)
12	g.14506900T>C	CA2617768283	PLBD1	c.1372+33A>G (n.1372+33A>G)	gnomAD v4
12	g.14506902A=	CA2017888300	PLBD1	c.1372+31T= (n.1372+31T=)
12	g.14506902A>G	CA6462471	PLBD1	c.1372+31T>C (n.1372+31T>C)	dbSNP ExAC gnomAD v2
12	g.14506906A=	CA2017888301	PLBD1	c.1372+27T= (n.1372+27T=)
12	g.14506906A>C	CA2575086459	PLBD1	c.1372+27T>G (n.1372+27T>G)
12	g.14506907T>C	CA2575086460	PLBD1	c.1372+26A>G (n.1372+26A>G)
12	g.14506907dup	CA6462472	PLBD1	c.1372+26dup (n.1372+26dup)	dbSNP ExAC gnomAD v3 gnomAD v4
12	g.14506909A=	CA2017888302	PLBD1	c.1372+24T= (n.1372+24T=)
12	g.14506909A>G	CA6462473	PLBD1	c.1372+24T>C (n.1372+24T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506909A>T	CA478704973	PLBD1	c.1372+24T>A (n.1372+24T>A)	dbSNP gnomAD v2 gnomAD v4
12	g.14506910T>A	CA6462474	PLBD1	c.1372+23A>T (n.1372+23A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14506910T=	CA2017888303	PLBD1	c.1372+23A= (n.1372+23A=)
12	g.14506912C>A	CA2575086461	PLBD1	c.1372+21G>T (n.1372+21G>T)	gnomAD v4
12	g.14506913T>C	CA603609428	PLBD1	c.1372+20A>G (n.1372+20A>G)	dbSNP gnomAD v2 gnomAD v4
12	g.14506913T=	CA2017888304	PLBD1	c.1372+20A= (n.1372+20A=)
12	g.14506914T>G	CA2617768284	PLBD1	c.1372+19A>C (n.1372+19A>C)	gnomAD v4
12	g.14506915G>A	CA2575086462	PLBD1	c.1372+18C>T (n.1372+18C>T)
12	g.14506915G>C	CA6462475	PLBD1	c.1372+18C>G (n.1372+18C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14506915G=	CA2017888305	PLBD1	c.1372+18C= (n.1372+18C=)
12	g.14506916A=	CA2017888306	PLBD1	c.1372+17T= (n.1372+17T=)
12	g.14506916A>G	CA233190182	PLBD1	c.1372+17T>C (n.1372+17T>C)	dbSNP gnomAD v2 gnomAD v4
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=)

Number of alleles fetched