Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
12	g.14507077A>C	CA383982228	PLBD1	c.1228T>G (p.Tyr410Asp)
12	g.14507077A>G	CA383982229	PLBD1	c.1228T>C (p.Tyr410His)
12	g.14507077A>T	CA383982230	PLBD1	c.1228T>A (p.Tyr410Asn)
12	g.14507078G>A	CA233190498	PLBD1	c.1227C>T (p.Ile409=)	dbSNP
12	g.14507078G>C	CA383982231	PLBD1	c.1227C>G (p.Ile409Met)
12	g.14507078G=	CA2017888386	PLBD1	c.1227C= (p.Ile409=)
12	g.14507078G>T	CA478705112	PLBD1	c.1227C>A (p.Ile409=)
12	g.14507079A=	CA2017888387	PLBD1	c.1226T= (p.Ile409=)
12	g.14507079A>C	CA383982232	PLBD1	c.1226T>G (p.Ile409Ser)
12	g.14507079A>G	CA233190514	PLBD1	c.1226T>C (p.Ile409Thr)	dbSNP gnomAD v4
12	g.14507079A>T	CA383982233	PLBD1	c.1226T>A (p.Ile409Asn)
12	g.14507079_14507080delinsAT	CA2017888388	PLBD1	c.1225_1226delinsAT (p.Ile409=)
12	g.14507080T>A	CA383982234	PLBD1	c.1225A>T (p.Ile409Phe)
12	g.14507080T>C	CA383982235	PLBD1	c.1225A>G (p.Ile409Val)
12	g.14507080T>G	CA383982236	PLBD1	c.1225A>C (p.Ile409Leu)
12	g.14507085dup	CA603609529	PLBD1	c.1225dup (p.Ile409AsnfsTer21)	dbSNP gnomAD v2 gnomAD v4
12	g.14507085del	CA944991949	PLBD1	c.1225del (p.Ile409SerfsTer10)	dbSNP gnomAD v3 gnomAD v4
12	g.14507081T>A	CA383982237	PLBD1	c.1224A>T (p.Lys408Asn)	dbSNP
12	g.14507081T>C	CA478705113	PLBD1	c.1224A>G (p.Lys408=)
12	g.14507081T>G	CA383982238	PLBD1	c.1224A>C (p.Lys408Asn)
12	g.14507081T=	CA2017888389	PLBD1	c.1224A= (p.Lys408=)
12	g.14507082T>A	CA383982239	PLBD1	c.1223A>T (p.Lys408Ile)
12	g.14507082T>C	CA383982240	PLBD1	c.1223A>G (p.Lys408Arg)
12	g.14507082T>G	CA383982241	PLBD1	c.1223A>C (p.Lys408Thr)
12	g.14507083T>A	CA383982244	PLBD1	c.1222A>T (p.Lys408Ter)
12	g.14507083T>C	CA383982243	PLBD1	c.1222A>G (p.Lys408Glu)
12	g.14507083T>G	CA383982242	PLBD1	c.1222A>C (p.Lys408Gln)
12	g.14507084T>A	CA383982245	PLBD1	c.1221A>T (p.Glu407Asp)
12	g.14507084T>C	CA478705114	PLBD1	c.1221A>G (p.Glu407=)
12	g.14507084T>G	CA383982246	PLBD1	c.1221A>C (p.Glu407Asp)
12	g.14507085T>A	CA383982247	PLBD1	c.1220A>T (p.Glu407Val)
12	g.14507085T>C	CA383982248	PLBD1	c.1220A>G (p.Glu407Gly)
12	g.14507085T>G	CA383982249	PLBD1	c.1220A>C (p.Glu407Ala)
12	g.14507086C>A	CA383982250	PLBD1	c.1219G>T (p.Glu407Ter)
12	g.14507086C=	CA2017888390	PLBD1	c.1219G= (p.Glu407=)
12	g.14507086C>G	CA383982251	PLBD1	c.1219G>C (p.Glu407Gln)
12	g.14507086C>T	CA233190518	PLBD1	c.1219G>A (p.Glu407Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507087A=	CA2017888391	PLBD1	c.1218T= (p.His406=)
12	g.14507087A>C	CA383982252	PLBD1	c.1218T>G (p.His406Gln)
12	g.14507087A>G	CA6462515	PLBD1	c.1218T>C (p.His406=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14507087A>T	CA383982253	PLBD1	c.1218T>A (p.His406Gln)
12	g.14507088T>A	CA383982256	PLBD1	c.1217A>T (p.His406Leu)
12	g.14507088T>C	CA383982255	PLBD1	c.1217A>G (p.His406Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.14507088T>G	CA383982254	PLBD1	c.1217A>C (p.His406Pro)
12	g.14507088T=	CA2017888392	PLBD1	c.1217A= (p.His406=)
12	g.14507089G>A	CA383982257	PLBD1	c.1216C>T (p.His406Tyr)
12	g.14507089G>C	CA383982258	PLBD1	c.1216C>G (p.His406Asp)
12	g.14507089G>T	CA383982259	PLBD1	c.1216C>A (p.His406Asn)
12	g.14507090dup	CA6462516	PLBD1	c.1216dup (p.His406ProfsTer2)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507090G>A	CA478705117	PLBD1	c.1215C>T (p.Phe405=)	dbSNP gnomAD v2 gnomAD v4
12	g.14507090G>C	CA383982260	PLBD1	c.1215C>G (p.Phe405Leu)
12	g.14507090G=	CA2017888393	PLBD1	c.1215C= (p.Phe405=)
12	g.14507090G>T	CA383982261	PLBD1	c.1215C>A (p.Phe405Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507090_14507091delinsGA	CA2017888394	PLBD1	c.1214_1215delinsTC (p.Phe405=)
12	g.14507091A=	CA2017888395	PLBD1	c.1214T= (p.Phe405=)
12	g.14507091A>C	CA6462518	PLBD1	c.1214T>G (p.Phe405Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507091A>G	CA383982262	PLBD1	c.1214T>C (p.Phe405Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.14507091A>T	CA383982263	PLBD1	c.1214T>A (p.Phe405Tyr)
12	g.14507093del	CA6462517	PLBD1	c.1214del (p.Phe405SerfsTer14)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14507092A>C	CA383982264	PLBD1	c.1213T>G (p.Phe405Val)
12	g.14507092A>G	CA383982265	PLBD1	c.1213T>C (p.Phe405Leu)	COSMIC
12	g.14507092A>T	CA383982266	PLBD1	c.1213T>A (p.Phe405Ile)
12	g.14507093A=	CA2017888396	PLBD1	c.1212T= (p.Pro404=)
12	g.14507093A>C	CA478705119	PLBD1	c.1212T>G (p.Pro404=)	gnomAD v4
12	g.14507093A>G	CA478705118	PLBD1	c.1212T>C (p.Pro404=)	dbSNP gnomAD v2 gnomAD v4
12	g.14507093A>T	CA478705120	PLBD1	c.1212T>A (p.Pro404=)	gnomAD v4
12	g.14507094G>A	CA383982268	PLBD1	c.1211C>T (p.Pro404Leu)
12	g.14507094G>C	CA383982269	PLBD1	c.1211C>G (p.Pro404Arg)
12	g.14507094G>T	CA383982267	PLBD1	c.1211C>A (p.Pro404His)
12	g.14507095G>A	CA383982272	PLBD1	c.1210C>T (p.Pro404Ser)
12	g.14507095G>C	CA383982270	PLBD1	c.1210C>G (p.Pro404Ala)
12	g.14507095G>T	CA383982271	PLBD1	c.1210C>A (p.Pro404Thr)
12	g.14507096A>C	CA478705122	PLBD1	c.1209T>G (p.Val403=)
12	g.14507096A>G	CA478705121	PLBD1	c.1209T>C (p.Val403=)
12	g.14507096A>T	CA478705123	PLBD1	c.1209T>A (p.Val403=)
12	g.14507096_14507097del	CA2617768297	PLBD1	c.1208_1209del (p.Val403AlafsTer4)	gnomAD v4
12	g.14507097A>C	CA383982273	PLBD1	c.1208T>G (p.Val403Gly)
12	g.14507097A>G	CA383982274	PLBD1	c.1208T>C (p.Val403Ala)	gnomAD v4
12	g.14507097A>T	CA383982275	PLBD1	c.1208T>A (p.Val403Asp)
12	g.14507098C>A	CA383982276	PLBD1	c.1207G>T (p.Val403Phe)
12	g.14507098C=	CA2017888397	PLBD1	c.1207G= (p.Val403=)
12	g.14507098C>G	CA383982277	PLBD1	c.1207G>C (p.Val403Leu)	gnomAD v4
12	g.14507098C>T	CA6462519	PLBD1	c.1207G>A (p.Val403Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14507099A>C	CA383982278	PLBD1	c.1206T>G (p.Asn402Lys)
12	g.14507099A>G	CA478705124	PLBD1	c.1206T>C (p.Asn402=)	gnomAD v4
12	g.14507099A>T	CA383982279	PLBD1	c.1206T>A (p.Asn402Lys)
12	g.14507100T>A	CA383982280	PLBD1	c.1205A>T (p.Asn402Ile)
12	g.14507100T>C	CA6462520	PLBD1	c.1205A>G (p.Asn402Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507100T>G	CA383982281	PLBD1	c.1205A>C (p.Asn402Thr)
12	g.14507100T=	CA2017888398	PLBD1	c.1205A= (p.Asn402=)
12	g.14507101T>A	CA383982282	PLBD1	c.1204A>T (p.Asn402Tyr)
12	g.14507101T>C	CA383982284	PLBD1	c.1204A>G (p.Asn402Asp)
12	g.14507101T>G	CA383982283	PLBD1	c.1204A>C (p.Asn402His)
12	g.14507102G>A	CA478705125	PLBD1	c.1203C>T (p.Tyr401=)
12	g.14507102G>C	CA383982285	PLBD1	c.1203C>G (p.Tyr401Ter)
12	g.14507102G>T	CA383982286	PLBD1	c.1203C>A (p.Tyr401Ter)
12	g.14507103T>A	CA233190538	PLBD1	c.1202A>T (p.Tyr401Phe)	dbSNP
12	g.14507103T>C	CA383982287	PLBD1	c.1202A>G (p.Tyr401Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.14507103T>G	CA383982288	PLBD1	c.1202A>C (p.Tyr401Ser)
12	g.14507103T=	CA2017888399	PLBD1	c.1202A= (p.Tyr401=)
12	g.14507104A>C	CA383982289	PLBD1	c.1201T>G (p.Tyr401Asp)
12	g.14507104A>G	CA383982290	PLBD1	c.1201T>C (p.Tyr401His)
12	g.14507104A>T	CA383982291	PLBD1	c.1201T>A (p.Tyr401Asn)
12	g.14507105G>A	CA478705127	PLBD1	c.1200C>T (p.Ser400=)	COSMIC
12	g.14507105G>C	CA478705126	PLBD1	c.1200C>G (p.Ser400=)
12	g.14507105G>T	CA478705128	PLBD1	c.1200C>A (p.Ser400=)
12	g.14507106del	CA2575086463	PLBD1	c.1200del (p.Tyr401ThrfsTer18)
12	g.14507106G>A	CA383982292	PLBD1	c.1199C>T (p.Ser400Phe)
12	g.14507106G>C	CA383982293	PLBD1	c.1199C>G (p.Ser400Cys)
12	g.14507106G>T	CA383982294	PLBD1	c.1199C>A (p.Ser400Tyr)
12	g.14507107A=	CA2017888400	PLBD1	c.1198T= (p.Ser400=)
12	g.14507107A>C	CA383982296	PLBD1	c.1198T>G (p.Ser400Ala)
12	g.14507107A>G	CA383982297	PLBD1	c.1198T>C (p.Ser400Pro)
12	g.14507107A>T	CA383982295	PLBD1	c.1198T>A (p.Ser400Thr)
12	g.14507108G>A	CA478705131	PLBD1	c.1197C>T (p.Pro399=)	gnomAD v4
12	g.14507108G>C	CA478705129	PLBD1	c.1197C>G (p.Pro399=)
12	g.14507108G>T	CA478705130	PLBD1	c.1197C>A (p.Pro399=)
12	g.14507110dup	CA6462521	PLBD1	c.1197dup (p.Ser400LeufsTer8)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.14507109G>A	CA6462522	PLBD1	c.1196C>T (p.Pro399Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507109G>C	CA383982298	PLBD1	c.1196C>G (p.Pro399Arg)
12	g.14507109G=	CA2017888401	PLBD1	c.1196C= (p.Pro399=)
12	g.14507109G>T	CA383982300	PLBD1	c.1196C>A (p.Pro399His)
12	g.14507110G>A	CA383982302	PLBD1	c.1195C>T (p.Pro399Ser)	gnomAD v4 COSMIC
12	g.14507110G>C	CA383982304	PLBD1	c.1195C>G (p.Pro399Ala)
12	g.14507110G>T	CA383982305	PLBD1	c.1195C>A (p.Pro399Thr)	gnomAD v4
12	g.14507111C>A	CA383982308	PLBD1	c.1194G>T (p.Trp398Cys)	gnomAD v4
12	g.14507111C=	CA2017888402	PLBD1	c.1194G= (p.Trp398=)
12	g.14507111C>G	CA383982310	PLBD1	c.1194G>C (p.Trp398Cys)
12	g.14507111C>T	CA6462523	PLBD1	c.1194G>A (p.Trp398Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507112C>A	CA383982313	PLBD1	c.1193G>T (p.Trp398Leu)
12	g.14507112C=	CA2017888403	PLBD1	c.1193G= (p.Trp398=)
12	g.14507112C>G	CA383982315	PLBD1	c.1193G>C (p.Trp398Ser)	dbSNP gnomAD v2
12	g.14507112C>T	CA383982316	PLBD1	c.1193G>A (p.Trp398Ter)	dbSNP gnomAD v4
12	g.14507113A=	CA2017888404	PLBD1	c.1192T= (p.Trp398=)
12	g.14507113A>C	CA6462524	PLBD1	c.1192T>G (p.Trp398Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507113A>G	CA383982321	PLBD1	c.1192T>C (p.Trp398Arg)	gnomAD v4
12	g.14507113A>T	CA383982319	PLBD1	c.1192T>A (p.Trp398Arg)
12	g.14507114A=	CA2017888405	PLBD1	c.1191T= (p.Tyr397=)
12	g.14507114A>C	CA383982324	PLBD1	c.1191T>G (p.Tyr397Ter)
12	g.14507114A>G	CA478705132	PLBD1	c.1191T>C (p.Tyr397=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.14507114A>T	CA383982326	PLBD1	c.1191T>A (p.Tyr397Ter)
12	g.14507115T>A	CA383982328	PLBD1	c.1190A>T (p.Tyr397Phe)
12	g.14507115T>C	CA383982330	PLBD1	c.1190A>G (p.Tyr397Cys)	dbSNP gnomAD v4
12	g.14507115T>G	CA383982332	PLBD1	c.1190A>C (p.Tyr397Ser)
12	g.14507115T=	CA2017888406	PLBD1	c.1190A= (p.Tyr397=)
12	g.14507116A>C	CA383982335	PLBD1	c.1189T>G (p.Tyr397Asp)
12	g.14507116A>G	CA383982336	PLBD1	c.1189T>C (p.Tyr397His)	gnomAD v4
12	g.14507116A>T	CA383982337	PLBD1	c.1189T>A (p.Tyr397Asn)
12	g.14507117T>A	CA478705135	PLBD1	c.1188A>T (p.Gly396=)
12	g.14507117T>C	CA478705134	PLBD1	c.1188A>G (p.Gly396=)	gnomAD v4
12	g.14507117T>G	CA478705133	PLBD1	c.1188A>C (p.Gly396=)
12	g.14507118C>A	CA383982341	PLBD1	c.1187G>T (p.Gly396Val)	gnomAD v4
12	g.14507118C>G	CA383982342	PLBD1	c.1187G>C (p.Gly396Ala)
12	g.14507118C>T	CA383982344	PLBD1	c.1187G>A (p.Gly396Glu)	gnomAD v4
12	g.14507119C>A	CA383982347	PLBD1	c.1187-1G>T (n.1187-1G>T)
12	g.14507119C>G	CA383982349	PLBD1	c.1187-1G>C (n.1187-1G>C)
12	g.14507119C>T	CA383982350	PLBD1	c.1187-1G>A (n.1187-1G>A)	COSMIC
12	g.14507120T>A	CA383982355	PLBD1	c.1187-2A>T (n.1187-2A>T)
12	g.14507120T>C	CA383982354	PLBD1	c.1187-2A>G (n.1187-2A>G)
12	g.14507120T>G	CA383982352	PLBD1	c.1187-2A>C (n.1187-2A>C)
12	g.14507120_14507121insTTCC	CA2725545748	PLBD1	c.1187-3_1187-2insGGAA (n.1187-3_1187-2insGGAA)	dbSNP
12	g.14507121G>C	CA2575086464	PLBD1	c.1187-3C>G (n.1187-3C>G)
12	g.14507121_14507122insTAGAACATCAGTTTGTTCAGAATATTCTAC	CA2725545831	PLBD1	c.1187-4_1187-3insGTAGAATATTCTGAACAAACTGATGTTCTA (n.1187-4_1187-3insGTAGAATATTCTGAACAAACTGATGTTCTA)	dbSNP
12	g.14507123T>C	CA603609530	PLBD1	c.1187-5A>G (n.1187-5A>G)	dbSNP gnomAD v2 gnomAD v4
12	g.14507123T=	CA2017888407	PLBD1	c.1187-5A= (n.1187-5A=)
12	g.14507124T>G	CA2617768298	PLBD1	c.1187-6A>C (n.1187-6A>C)	gnomAD v4
12	g.14507125T>A	CA2017888409	PLBD1	c.1187-7A>T (n.1187-7A>T)	dbSNP
12	g.14507125T>G	CA2617768299	PLBD1	c.1187-7A>C (n.1187-7A>C)	gnomAD v4
12	g.14507125T=	CA2017888408	PLBD1	c.1187-7A= (n.1187-7A=)
12	g.14507126G>T	CA2617768300	PLBD1	c.1187-8C>A (n.1187-8C>A)	gnomAD v4
12	g.14507127G>C	CA603609531	PLBD1	c.1187-9C>G (n.1187-9C>G)	dbSNP gnomAD v2 gnomAD v4
12	g.14507127G=	CA2017888410	PLBD1	c.1187-9C= (n.1187-9C=)
12	g.14507127G>T	CA2617768301	PLBD1	c.1187-9C>A (n.1187-9C>A)	gnomAD v4

Number of alleles fetched