Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42184407C>A	CA399562224	HCRT	c.143G>T (p.Arg48Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.42184407C=	CA2260368360	HCRT	c.143G= (p.Arg48=)
17	g.42184407C>G	CA399562225	HCRT	c.143G>C (p.Arg48Pro)
17	g.42184407C>T	CA399562226	HCRT	c.143G>A (p.Arg48His)	dbSNP gnomAD v4
17	g.42184408G>A	CA399562227	HCRT	c.142C>T (p.Arg48Cys)	gnomAD v4
17	g.42184408G>C	CA399562228	HCRT	c.142C>G (p.Arg48Gly)
17	g.42184408G>T	CA399562229	HCRT	c.142C>A (p.Arg48Ser)	gnomAD v4
17	g.42184409G>A	CA500213998	HCRT	c.141C>T (p.Cys47=)	gnomAD v4
17	g.42184409G>C	CA399562230	HCRT	c.141C>G (p.Cys47Trp)	dbSNP gnomAD v3 gnomAD v4
17	g.42184409G=	CA2260368361	HCRT	c.141C= (p.Cys47=)
17	g.42184409G>T	CA399562231	HCRT	c.141C>A (p.Cys47Ter)	gnomAD v4
17	g.42184410C>A	CA399562233	HCRT	c.140G>T (p.Cys47Phe)	COSMIC
17	g.42184410C>G	CA399562234	HCRT	c.140G>C (p.Cys47Ser)	dbSNP
17	g.42184410C>T	CA399562232	HCRT	c.140G>A (p.Cys47Tyr)	gnomAD v4
17	g.42184410dup	CA2637931002	HCRT	c.140dup (p.Cys47TrpfsTer?)	gnomAD v4
17	g.42184411A>C	CA399562235	HCRT	c.139T>G (p.Cys47Gly)
17	g.42184411A>G	CA399562236	HCRT	c.139T>C (p.Cys47Arg)	gnomAD v4
17	g.42184411A>T	CA399562237	HCRT	c.139T>A (p.Cys47Ser)
17	g.42184412A=	CA2260368362	HCRT	c.138T= (p.Ser46=)
17	g.42184412A>C	CA500213999	HCRT	c.138T>G (p.Ser46=)
17	g.42184412A>G	CA500214000	HCRT	c.138T>C (p.Ser46=)	dbSNP gnomAD v3 gnomAD v4
17	g.42184412A>T	CA500214001	HCRT	c.138T>A (p.Ser46=)
17	g.42184413G>A	CA399562238	HCRT	c.137C>T (p.Ser46Phe)
17	g.42184413G>C	CA399562239	HCRT	c.137C>G (p.Ser46Cys)
17	g.42184413G>T	CA399562240	HCRT	c.137C>A (p.Ser46Tyr)	gnomAD v4
17	g.42184414A=	CA2260368363	HCRT	c.136T= (p.Ser46=)
17	g.42184414A>C	CA399562243	HCRT	c.136T>G (p.Ser46Ala)
17	g.42184414A>G	CA399562241	HCRT	c.136T>C (p.Ser46Pro)
17	g.42184414A>T	CA399562242	HCRT	c.136T>A (p.Ser46Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.42184415G>A	CA500214002	HCRT	c.135C>T (p.Cys45=)	gnomAD v4
17	g.42184415G>C	CA399562244	HCRT	c.135C>G (p.Cys45Trp)
17	g.42184415G>T	CA399562245	HCRT	c.135C>A (p.Cys45Ter)	gnomAD v4
17	g.42184416C>A	CA399562246	HCRT	c.134G>T (p.Cys45Phe)
17	g.42184416C>G	CA399562247	HCRT	c.134G>C (p.Cys45Ser)
17	g.42184416C>T	CA399562248	HCRT	c.134G>A (p.Cys45Tyr)	gnomAD v4
17	g.42184417A>C	CA399562249	HCRT	c.133T>G (p.Cys45Gly)
17	g.42184417A>G	CA399562251	HCRT	c.133T>C (p.Cys45Arg)
17	g.42184417A>T	CA399562250	HCRT	c.133T>A (p.Cys45Ser)
17	g.42184418A>C	CA500214004	HCRT	c.132T>G (p.Thr44=)
17	g.42184418A>G	CA500214003	HCRT	c.132T>C (p.Thr44=)
17	g.42184418A>T	CA500214005	HCRT	c.132T>A (p.Thr44=)
17	g.42184419G>A	CA399562252	HCRT	c.131C>T (p.Thr44Ile)
17	g.42184419G>C	CA399562253	HCRT	c.131C>G (p.Thr44Ser)
17	g.42184419G>T	CA399562254	HCRT	c.131C>A (p.Thr44Asn)	gnomAD v4
17	g.42184420T>A	CA399562255	HCRT	c.130A>T (p.Thr44Ser)
17	g.42184420T>C	CA399562256	HCRT	c.130A>G (p.Thr44Ala)	dbSNP
17	g.42184420T>G	CA399562257	HCRT	c.130A>C (p.Thr44Pro)
17	g.42184420T=	CA2260368364	HCRT	c.130A= (p.Thr44=)
17	g.42184421C>A	CA399562258	HCRT	c.129G>T (p.Lys43Asn)	COSMIC
17	g.42184421C>G	CA399562259	HCRT	c.129G>C (p.Lys43Asn)
17	g.42184421C>T	CA500214006	HCRT	c.129G>A (p.Lys43=)
17	g.42184421_42184423delinsCTT	CA2260368365	HCRT	c.127_129delinsAAG (p.Lys43=)
17	g.42184422T>A	CA399562260	HCRT	c.128A>T (p.Lys43Met)
17	g.42184422T>C	CA399562261	HCRT	c.128A>G (p.Lys43Arg)	gnomAD v4
17	g.42184422T>G	CA399562262	HCRT	c.128A>C (p.Lys43Thr)
17	g.42184425del	CA2637931003	HCRT	c.128del (p.Lys43ArgfsTer?)	gnomAD v4
17	g.42184424_42184425del	CA626217900	HCRT	c.127_128del (p.Lys43AspfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184423T>A	CA399562265	HCRT	c.127A>T (p.Lys43Ter)
17	g.42184423T>C	CA399562264	HCRT	c.127A>G (p.Lys43Glu)
17	g.42184423T>G	CA399562263	HCRT	c.127A>C (p.Lys43Gln)
17	g.42184424T>A	CA399562266	HCRT	c.126A>T (p.Gln42His)
17	g.42184424T>C	CA500214007	HCRT	c.126A>G (p.Gln42=)
17	g.42184424T>G	CA399562267	HCRT	c.126A>C (p.Gln42His)
17	g.42184425T>A	CA399562268	HCRT	c.125A>T (p.Gln42Leu)
17	g.42184425T>C	CA290717910	HCRT	c.125A>G (p.Gln42Arg)	dbSNP gnomAD v4
17	g.42184425T>G	CA399562269	HCRT	c.125A>C (p.Gln42Pro)
17	g.42184425T=	CA2260368366	HCRT	c.125A= (p.Gln42=)
17	g.42184426G>A	CA399562270	HCRT	c.124C>T (p.Gln42Ter)
17	g.42184426G>C	CA399562271	HCRT	c.124C>G (p.Gln42Glu)
17	g.42184426G>T	CA399562272	HCRT	c.124C>A (p.Gln42Lys)	gnomAD v4
17	g.42184429_42184431del	CA2576273570	HCRT	c.122_124del (p.Arg41del)
17	g.42184427A>C	CA500214009	HCRT	c.123T>G (p.Arg41=)
17	g.42184427A>G	CA500214008	HCRT	c.123T>C (p.Arg41=)
17	g.42184427A>T	CA500214010	HCRT	c.123T>A (p.Arg41=)
17	g.42184428C>A	CA399562275	HCRT	c.122G>T (p.Arg41Leu)	gnomAD v4
17	g.42184428C>G	CA399562273	HCRT	c.122G>C (p.Arg41Pro)	gnomAD v4
17	g.42184428C>T	CA399562274	HCRT	c.122G>A (p.Arg41His)	gnomAD v4
17	g.42184429G>A	CA399562276	HCRT	c.121C>T (p.Arg41Cys)	gnomAD v4
17	g.42184429G>C	CA399562277	HCRT	c.121C>G (p.Arg41Gly)	gnomAD v4
17	g.42184429G>T	CA399562278	HCRT	c.121C>A (p.Arg41Ser)	gnomAD v4
17	g.42184430A>C	CA399562279	HCRT	c.120T>G (p.Cys40Trp)
17	g.42184430A>G	CA500214011	HCRT	c.120T>C (p.Cys40=)
17	g.42184430A>T	CA399562280	HCRT	c.120T>A (p.Cys40Ter)	gnomAD v4
17	g.42184431C>A	CA399562283	HCRT	c.119G>T (p.Cys40Phe)	gnomAD v4
17	g.42184431C>G	CA399562281	HCRT	c.119G>C (p.Cys40Ser)	gnomAD v4
17	g.42184431C>T	CA399562282	HCRT	c.119G>A (p.Cys40Tyr)
17	g.42184432A>C	CA399562284	HCRT	c.118T>G (p.Cys40Gly)
17	g.42184432A>G	CA399562285	HCRT	c.118T>C (p.Cys40Arg)	gnomAD v4
17	g.42184432A>T	CA399562286	HCRT	c.118T>A (p.Cys40Ser)
17	g.42184433G>A	CA500214012	HCRT	c.117C>T (p.Cys39=)	gnomAD v4
17	g.42184433G>C	CA399562287	HCRT	c.117C>G (p.Cys39Trp)	gnomAD v4
17	g.42184433G>T	CA399562288	HCRT	c.117C>A (p.Cys39Ter)	gnomAD v4
17	g.42184434C>A	CA399562289	HCRT	c.116G>T (p.Cys39Phe)	gnomAD v4
17	g.42184434C>G	CA399562290	HCRT	c.116G>C (p.Cys39Ser)
17	g.42184434C>T	CA399562291	HCRT	c.116G>A (p.Cys39Tyr)	gnomAD v4
17	g.42184434_42184435delinsCA	CA2260368367	HCRT	c.115_116delinsTG (p.Cys39=)
17	g.42184435del	CA2260368368	HCRT	c.115del (p.Cys39AlafsTer?)	dbSNP
17	g.42184435A>C	CA399562292	HCRT	c.115T>G (p.Cys39Gly)
17	g.42184435A>G	CA399562293	HCRT	c.115T>C (p.Cys39Arg)	gnomAD v4
17	g.42184435A>T	CA399562294	HCRT	c.115T>A (p.Cys39Ser)
17	g.42184436G>A	CA500214013	HCRT	c.114C>T (p.Asp38=)
17	g.42184436G>C	CA8573252	HCRT	c.114C>G (p.Asp38Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184436G=	CA2260368369	HCRT	c.114C= (p.Asp38=)
17	g.42184436G>T	CA399562295	HCRT	c.114C>A (p.Asp38Glu)	gnomAD v4
17	g.42184437T>A	CA399562298	HCRT	c.113A>T (p.Asp38Val)
17	g.42184437T>C	CA399562296	HCRT	c.113A>G (p.Asp38Gly)
17	g.42184437T>G	CA399562297	HCRT	c.113A>C (p.Asp38Ala)
17	g.42184438C>A	CA399562299	HCRT	c.112G>T (p.Asp38Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.42184438C=	CA2260368370	HCRT	c.112G= (p.Asp38=)
17	g.42184438C>G	CA399562300	HCRT	c.112G>C (p.Asp38His)	dbSNP gnomAD v3 gnomAD v4
17	g.42184438C>T	CA8573253	HCRT	c.112G>A (p.Asp38Asn)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.42184439G>A	CA500214015	HCRT	c.111C>T (p.Pro37=)	gnomAD v4
17	g.42184439G>C	CA500214016	HCRT	c.111C>G (p.Pro37=)
17	g.42184439G=	CA2260368371	HCRT	c.111C= (p.Pro37=)
17	g.42184439G>T	CA500214014	HCRT	c.111C>A (p.Pro37=)	dbSNP gnomAD v2 gnomAD v4
17	g.42184440G>A	CA399562301	HCRT	c.110C>T (p.Pro37Leu)	gnomAD v4
17	g.42184440G>C	CA399562302	HCRT	c.110C>G (p.Pro37Arg)
17	g.42184440G>T	CA399562303	HCRT	c.110C>A (p.Pro37His)	gnomAD v4
17	g.42184441G>A	CA399562304	HCRT	c.109C>T (p.Pro37Ser)	dbSNP gnomAD v4
17	g.42184441G>C	CA399562305	HCRT	c.109C>G (p.Pro37Ala)	dbSNP gnomAD v2
17	g.42184441G=	CA2260368372	HCRT	c.109C= (p.Pro37=)
17	g.42184441G>T	CA399562306	HCRT	c.109C>A (p.Pro37Thr)	dbSNP gnomAD v4
17	g.42184442C>A	CA8573254	HCRT	c.108G>T (p.Leu36=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184442C=	CA2260368373	HCRT	c.108G= (p.Leu36=)
17	g.42184442C>G	CA500214017	HCRT	c.108G>C (p.Leu36=)	gnomAD v4
17	g.42184442C>T	CA500214018	HCRT	c.108G>A (p.Leu36=)	gnomAD v4
17	g.42184443A>C	CA399562307	HCRT	c.107T>G (p.Leu36Arg)
17	g.42184443A>G	CA399562308	HCRT	c.107T>C (p.Leu36Pro)	gnomAD v4
17	g.42184443A>T	CA399562309	HCRT	c.107T>A (p.Leu36Gln)
17	g.42184444G>A	CA500214019	HCRT	c.106C>T (p.Leu36=)
17	g.42184444G>C	CA399562311	HCRT	c.106C>G (p.Leu36Val)	gnomAD v4
17	g.42184444G>T	CA399562310	HCRT	c.106C>A (p.Leu36Met)	gnomAD v4
17	g.42184445G>A	CA8573255	HCRT	c.105C>T (p.Pro35=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184445G>C	CA500214021	HCRT	c.105C>G (p.Pro35=)	gnomAD v4
17	g.42184445G=	CA2260368374	HCRT	c.105C= (p.Pro35=)
17	g.42184445G>T	CA500214020	HCRT	c.105C>A (p.Pro35=)	gnomAD v4
17	g.42184446G>A	CA399562312	HCRT	c.104C>T (p.Pro35Leu)
17	g.42184446G>C	CA399562313	HCRT	c.104C>G (p.Pro35Arg)
17	g.42184446G>T	CA399562314	HCRT	c.104C>A (p.Pro35His)	gnomAD v4
17	g.42184447G>A	CA399562315	HCRT	c.103C>T (p.Pro35Ser)	gnomAD v4
17	g.42184447G>C	CA399562316	HCRT	c.103C>G (p.Pro35Ala)
17	g.42184447G>T	CA399562317	HCRT	c.103C>A (p.Pro35Thr)	gnomAD v4
17	g.42184448C>A	CA399562318	HCRT	c.102G>T (p.Gln34His)	gnomAD v4
17	g.42184448C=	CA2260368375	HCRT	c.102G= (p.Gln34=)
17	g.42184448C>G	CA399562319	HCRT	c.102G>C (p.Gln34His)
17	g.42184448C>T	CA8573256	HCRT	c.102G>A (p.Gln34=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184449T>A	CA399562320	HCRT	c.101A>T (p.Gln34Leu)
17	g.42184449T>C	CA399562321	HCRT	c.101A>G (p.Gln34Arg)	gnomAD v4
17	g.42184449T>G	CA399562322	HCRT	c.101A>C (p.Gln34Pro)
17	g.42184449_42184471delinsTGTGCAGCCGCCCCGGACGACAA	CA2260368376	HCRT	c.79_101delinsTTGTCGTCCGGGGCGGCTGCACA (p.Leu27=)
17	g.42184450G>A	CA399562325	HCRT	c.100C>T (p.Gln34Ter)	dbSNP gnomAD v2 gnomAD v4
17	g.42184450G>C	CA399562324	HCRT	c.100C>G (p.Gln34Glu)
17	g.42184450G=	CA2260368377	HCRT	c.100C= (p.Gln34=)
17	g.42184450G>T	CA399562323	HCRT	c.100C>A (p.Gln34Lys)	gnomAD v4
17	g.42184450_42184471del	CA8573257	HCRT	c.79_100del (p.Leu27SerfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184451T>A	CA500214022	HCRT	c.99A>T (p.Ala33=)
17	g.42184451T>C	CA500214023	HCRT	c.99A>G (p.Ala33=)	dbSNP
17	g.42184451T>G	CA500214024	HCRT	c.99A>C (p.Ala33=)
17	g.42184451T=	CA2260368378	HCRT	c.99A= (p.Ala33=)
17	g.42184452G>A	CA399562326	HCRT	c.98C>T (p.Ala33Val)	gnomAD v4
17	g.42184452G>C	CA399562327	HCRT	c.98C>G (p.Ala33Gly)
17	g.42184452G>T	CA399562328	HCRT	c.98C>A (p.Ala33Glu)	gnomAD v4
17	g.42184453C>A	CA399562329	HCRT	c.97G>T (p.Ala33Ser)
17	g.42184453C>G	CA399562330	HCRT	c.97G>C (p.Ala33Pro)
17	g.42184453C>T	CA399562331	HCRT	c.97G>A (p.Ala33Thr)	gnomAD v4
17	g.42184454A>C	CA500214026	HCRT	c.96T>G (p.Ala32=)
17	g.42184454A>G	CA500214025	HCRT	c.96T>C (p.Ala32=)	gnomAD v4
17	g.42184454A>T	CA500214027	HCRT	c.96T>A (p.Ala32=)	gnomAD v4
17	g.42184455G>A	CA399562332	HCRT	c.95C>T (p.Ala32Val)	gnomAD v4
17	g.42184455G>C	CA399562334	HCRT	c.95C>G (p.Ala32Gly)
17	g.42184455G>T	CA399562333	HCRT	c.95C>A (p.Ala32Asp)	gnomAD v4
17	g.42184456C>A	CA8573258	HCRT	c.94G>T (p.Ala32Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184456C=	CA2260368379	HCRT	c.94G= (p.Ala32=)
17	g.42184456C>G	CA399562335	HCRT	c.94G>C (p.Ala32Pro)
17	g.42184456C>T	CA399562336	HCRT	c.94G>A (p.Ala32Thr)	gnomAD v4
17	g.42184457C>A	CA500214028	HCRT	c.93G>T (p.Ala31=)	gnomAD v4
17	g.42184457C=	CA2260368380	HCRT	c.93G= (p.Ala31=)
17	g.42184457C>G	CA8573260	HCRT	c.93G>C (p.Ala31=)	dbSNP ExAC gnomAD v4
17	g.42184457C>T	CA500214029	HCRT	c.93G>A (p.Ala31=)	gnomAD v4
17	g.42184457_42184458insCT	CA8573259	HCRT	c.92_93insAG (p.Ala32GlyfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184458G>A	CA399562339	HCRT	c.92C>T (p.Ala31Val)	gnomAD v4
17	g.42184458G>C	CA399562337	HCRT	c.92C>G (p.Ala31Gly)
17	g.42184458G>T	CA399562338	HCRT	c.92C>A (p.Ala31Glu)	gnomAD v4
17	g.42184459C>A	CA399562340	HCRT	c.91G>T (p.Ala31Ser)
17	g.42184459C>G	CA399562341	HCRT	c.91G>C (p.Ala31Pro)
17	g.42184459C>T	CA399562342	HCRT	c.91G>A (p.Ala31Thr)	gnomAD v4
17	g.42184462del	CA2637931004	HCRT	c.91del (p.Ala31ArgfsTer?)	gnomAD v4
17	g.42184460C>A	CA500214030	HCRT	c.90G>T (p.Gly30=)	gnomAD v4
17	g.42184460C=	CA2260368381	HCRT	c.90G= (p.Gly30=)
17	g.42184460C>G	CA8573261	HCRT	c.90G>C (p.Gly30=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184460C>T	CA8573262	HCRT	c.90G>A (p.Gly30=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184461C>A	CA399562345	HCRT	c.89G>T (p.Gly30Val)	gnomAD v4
17	g.42184461C>G	CA399562343	HCRT	c.89G>C (p.Gly30Ala)
17	g.42184461C>T	CA399562344	HCRT	c.89G>A (p.Gly30Glu)
17	g.42184462C>A	CA399562346	HCRT	c.88G>T (p.Gly30Trp)	gnomAD v4
17	g.42184462C=	CA2260368383	HCRT	c.88G= (p.Gly30=)
17	g.42184462C>G	CA399562347	HCRT	c.88G>C (p.Gly30Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.42184462C>T	CA399562348	HCRT	c.88G>A (p.Gly30Arg)	gnomAD v4
17	g.42184462_42184463delinsCG	CA2260368382	HCRT	c.87_88delinsCG (p.Ser29=)
17	g.42184463G>A	CA8573263	HCRT	c.87C>T (p.Ser29=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184463G>C	CA8573264	HCRT	c.87C>G (p.Ser29=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184463G=	CA2260368385	HCRT	c.87C= (p.Ser29=)
17	g.42184463G>T	CA500214031	HCRT	c.87C>A (p.Ser29=)	gnomAD v4
17	g.42184464del	CA772085758	HCRT	c.87del (p.Ala31ArgfsTer?)	dbSNP gnomAD v4
17	g.42184463_42184466delinsGGAC	CA2260368384	HCRT	c.84_87delinsGTCC (p.Ser28=)
17	g.42184464G>A	CA399562349	HCRT	c.86C>T (p.Ser29Phe)	gnomAD v4
17	g.42184464G>C	CA399562351	HCRT	c.86C>G (p.Ser29Cys)
17	g.42184464G>T	CA399562350	HCRT	c.86C>A (p.Ser29Tyr)	gnomAD v4
17	g.42184467_42184469del	CA772085770	HCRT	c.84_86del (p.Ser29del)	dbSNP
17	g.42184465A=	CA2260368386	HCRT	c.85T= (p.Ser29=)
17	g.42184465A>C	CA399562352	HCRT	c.85T>G (p.Ser29Ala)
17	g.42184465A>G	CA8573265	HCRT	c.85T>C (p.Ser29Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184465A>T	CA399562353	HCRT	c.85T>A (p.Ser29Thr)
17	g.42184466C>A	CA500214032	HCRT	c.84G>T (p.Ser28=)	gnomAD v4
17	g.42184466C=	CA2260368387	HCRT	c.84G= (p.Ser28=)
17	g.42184466C>G	CA500214033	HCRT	c.84G>C (p.Ser28=)
17	g.42184466C>T	CA290717919	HCRT	c.84G>A (p.Ser28=)	dbSNP gnomAD v4
17	g.42184467G>A	CA399562354	HCRT	c.83C>T (p.Ser28Leu)	gnomAD v4
17	g.42184467G>C	CA399562355	HCRT	c.83C>G (p.Ser28Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184467G=	CA2260368388	HCRT	c.83C= (p.Ser28=)
17	g.42184467G>T	CA290717920	HCRT	c.83C>A (p.Ser28Ter)	dbSNP gnomAD v4
17	g.42184468A>C	CA399562356	HCRT	c.82T>G (p.Ser28Ala)
17	g.42184468A>G	CA399562357	HCRT	c.82T>C (p.Ser28Pro)
17	g.42184468A>T	CA399562358	HCRT	c.82T>A (p.Ser28Thr)
17	g.42184469C>A	CA399562359	HCRT	c.81G>T (p.Leu27Phe)	gnomAD v4
17	g.42184469C=	CA2260368389	HCRT	c.81G= (p.Leu27=)
17	g.42184469C>G	CA399562360	HCRT	c.81G>C (p.Leu27Phe)
17	g.42184469C>T	CA500214034	HCRT	c.81G>A (p.Leu27=)	dbSNP gnomAD v2 gnomAD v4
17	g.42184470A=	CA2260368390	HCRT	c.80T= (p.Leu27=)
17	g.42184470A>C	CA399562361	HCRT	c.80T>G (p.Leu27Trp)	dbSNP
17	g.42184470A>G	CA399562362	HCRT	c.80T>C (p.Leu27Ser)
17	g.42184470A>T	CA399562363	HCRT	c.80T>A (p.Leu27Ter)
17	g.42184471A>C	CA399562364	HCRT	c.79T>G (p.Leu27Val)
17	g.42184471A>G	CA500214035	HCRT	c.79T>C (p.Leu27=)	dbSNP
17	g.42184471A>T	CA399562365	HCRT	c.79T>A (p.Leu27Met)
17	g.42184472C>A	CA500214036	HCRT	c.78G>T (p.Leu26=)	gnomAD v4
17	g.42184472C=	CA2260368391	HCRT	c.78G= (p.Leu26=)
17	g.42184472C>G	CA500214037	HCRT	c.78G>C (p.Leu26=)
17	g.42184472C>T	CA500214038	HCRT	c.78G>A (p.Leu26=)	dbSNP gnomAD v2 gnomAD v4
17	g.42184473A>C	CA399562366	HCRT	c.77T>G (p.Leu26Arg)
17	g.42184473A>G	CA399562367	HCRT	c.77T>C (p.Leu26Pro)	gnomAD v4
17	g.42184473A>T	CA399562368	HCRT	c.77T>A (p.Leu26Gln)
17	g.42184474G>A	CA500214039	HCRT	c.76C>T (p.Leu26=)	gnomAD v4
17	g.42184474G>C	CA399562369	HCRT	c.76C>G (p.Leu26Val)	dbSNP gnomAD v2
17	g.42184474G=	CA2260368392	HCRT	c.76C= (p.Leu26=)
17	g.42184474G>T	CA399562370	HCRT	c.76C>A (p.Leu26Met)	gnomAD v4
17	g.42184475C>A	CA500214041	HCRT	c.75G>T (p.Ala25=)	gnomAD v4
17	g.42184475C=	CA2260368393	HCRT	c.75G= (p.Ala25=)
17	g.42184475C>G	CA500214040	HCRT	c.75G>C (p.Ala25=)	dbSNP
17	g.42184475C>T	CA8573266	HCRT	c.75G>A (p.Ala25=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184476G>A	CA8573267	HCRT	c.74C>T (p.Ala25Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184476G>C	CA399562371	HCRT	c.74C>G (p.Ala25Gly)	gnomAD v4
17	g.42184476G=	CA2260368394	HCRT	c.74C= (p.Ala25=)
17	g.42184476G>T	CA399562372	HCRT	c.74C>A (p.Ala25Glu)	gnomAD v4
17	g.42184477C>A	CA399562373	HCRT	c.73G>T (p.Ala25Ser)	gnomAD v4
17	g.42184477C=	CA2260368395	HCRT	c.73G= (p.Ala25=)
17	g.42184477C>G	CA399562374	HCRT	c.73G>C (p.Ala25Pro)
17	g.42184477C>T	CA399562375	HCRT	c.73G>A (p.Ala25Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.42184478G>A	CA500214042	HCRT	c.72C>T (p.Pro24=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184478G>C	CA290717922	HCRT	c.72C>G (p.Pro24=)	dbSNP gnomAD v3 gnomAD v4
17	g.42184478G=	CA2260368396	HCRT	c.72C= (p.Pro24=)
17	g.42184478G>T	CA500214043	HCRT	c.72C>A (p.Pro24=)	gnomAD v4
17	g.42184479G>A	CA399562376	HCRT	c.71C>T (p.Pro24Leu)	gnomAD v4
17	g.42184479G>C	CA399562378	HCRT	c.71C>G (p.Pro24Arg)
17	g.42184479G>T	CA399562377	HCRT	c.71C>A (p.Pro24His)	gnomAD v4
17	g.42184482_42184484del	CA2637931005	HCRT	c.69_71del (p.Pro24del)	gnomAD v4
17	g.42184480G>A	CA399562379	HCRT	c.70C>T (p.Pro24Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42184480G>C	CA399562381	HCRT	c.70C>G (p.Pro24Ala)
17	g.42184480G=	CA2260368397	HCRT	c.70C= (p.Pro24=)
17	g.42184480G>T	CA399562380	HCRT	c.70C>A (p.Pro24Thr)	gnomAD v4
17	g.42184481C>A	CA500214044	HCRT	c.69G>T (p.Pro23=)	gnomAD v4
17	g.42184481C>G	CA500214046	HCRT	c.69G>C (p.Pro23=)
17	g.42184481C>T	CA500214045	HCRT	c.69G>A (p.Pro23=)	gnomAD v4
17	g.42184482G>A	CA399562382	HCRT	c.68C>T (p.Pro23Leu)	gnomAD v4
17	g.42184482G>C	CA399562384	HCRT	c.68C>G (p.Pro23Arg)
17	g.42184482G>T	CA399562383	HCRT	c.68C>A (p.Pro23Gln)	gnomAD v4
17	g.42184482_42184491delinsGGCAGCAGCA	CA2260368398	HCRT	c.59_68delinsTGCTGCTGCC (p.Leu20=)
17	g.42184483G>A	CA399562385	HCRT	c.67C>T (p.Pro23Ser)	gnomAD v4
17	g.42184483G>C	CA399562386	HCRT	c.67C>G (p.Pro23Ala)	dbSNP
17	g.42184483G=	CA2260368399	HCRT	c.67C= (p.Pro23=)
17	g.42184483G>T	CA399562387	HCRT	c.67C>A (p.Pro23Thr)	gnomAD v4
17	g.42184483_42184484del	CA2637931007	HCRT	c.66_67del (p.Pro23AlafsTer?)	gnomAD v4
17	g.42184502_42184504dup	CA8573270	HCRT	c.65_67dup (p.Leu22_Pro23insLeu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184499_42184504dup	CA8573269	HCRT	c.62_67dup (p.Leu22_Pro23insLeuLeu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184496_42184504dup	CA626217902	HCRT	c.59_67dup (p.Leu22_Pro23insLeuLeuLeu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184493_42184504dup	CA2637931008	HCRT	c.56_67dup (p.Leu22_Pro23insLeuLeuLeuLeu)	gnomAD v4
17	g.42184502_42184504del	CA8573268	HCRT	c.65_67del (p.Leu22del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17	g.42184499_42184504del	CA8573271	HCRT	c.62_67del (p.Leu21_Leu22del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184496_42184504del	CA626217901	HCRT	c.59_67del (p.Leu20_Leu22del)	dbSNP gnomAD v2 gnomAD v4
17	g.42184493_42184504del	CA2637931006	HCRT	c.56_67del (p.Leu19_Leu22del)	gnomAD v4
17	g.42184484C>A	CA500214047	HCRT	c.66G>T (p.Leu22=)
17	g.42184484C>G	CA500214049	HCRT	c.66G>C (p.Leu22=)
17	g.42184484C>T	CA500214048	HCRT	c.66G>A (p.Leu22=)	gnomAD v4
17	g.42184485A=	CA2260368400	HCRT	c.65T= (p.Leu22=)
17	g.42184485A>C	CA399562388	HCRT	c.65T>G (p.Leu22Arg)
17	g.42184485A>G	CA8573272	HCRT	c.65T>C (p.Leu22Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184485A>T	CA399562389	HCRT	c.65T>A (p.Leu22Gln)
17	g.42184486G>A	CA500214050	HCRT	c.64C>T (p.Leu22=)	gnomAD v4
17	g.42184486G>C	CA399562390	HCRT	c.64C>G (p.Leu22Val)
17	g.42184486G>T	CA399562391	HCRT	c.64C>A (p.Leu22Met)	gnomAD v4
17	g.42184486_42184487del	CA2637931009	HCRT	c.63_64del (p.Leu22AlafsTer?)	gnomAD v4
17	g.42184487C>A	CA500214053	HCRT	c.63G>T (p.Leu21=)	gnomAD v4
17	g.42184487C=	CA2260368401	HCRT	c.63G= (p.Leu21=)
17	g.42184487C>G	CA500214051	HCRT	c.63G>C (p.Leu21=)	dbSNP
17	g.42184487C>T	CA500214052	HCRT	c.63G>A (p.Leu21=)	gnomAD v4
17	g.42184488A>C	CA399562394	HCRT	c.62T>G (p.Leu21Arg)
17	g.42184488A>G	CA399562392	HCRT	c.62T>C (p.Leu21Pro)	gnomAD v4
17	g.42184488A>T	CA399562393	HCRT	c.62T>A (p.Leu21Gln)
17	g.42184492_42184493insAAGCAG	CA2260368402	HCRT	c.62_63insTCTGCT (p.Leu21_Leu22insLeuLeu)	dbSNP
17	g.42184489del	CA2637931010	HCRT	c.61del (p.Leu21CysfsTer?)	gnomAD v4
17	g.42184489G>A	CA8573273	HCRT	c.61C>T (p.Leu21=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184489G>C	CA399562395	HCRT	c.61C>G (p.Leu21Val)	dbSNP gnomAD v4
17	g.42184489G=	CA2260368403	HCRT	c.61C= (p.Leu21=)
17	g.42184489G>T	CA399562396	HCRT	c.61C>A (p.Leu21Met)	gnomAD v4
17	g.42184490C>A	CA500214055	HCRT	c.60G>T (p.Leu20=)	gnomAD v4
17	g.42184490C=	CA2260368404	HCRT	c.60G= (p.Leu20=)
17	g.42184490C>G	CA500214056	HCRT	c.60G>C (p.Leu20=)	dbSNP gnomAD v4
17	g.42184490C>T	CA500214054	HCRT	c.60G>A (p.Leu20=)	gnomAD v4
17	g.42184491A=	CA2260368405	HCRT	c.59T= (p.Leu20=)
17	g.42184491A>C	CA399562397	HCRT	c.59T>G (p.Leu20Arg)
17	g.42184491A>G	CA399562398	HCRT	c.59T>C (p.Leu20Pro)	dbSNP gnomAD v2
17	g.42184491A>T	CA399562399	HCRT	c.59T>A (p.Leu20Gln)
17	g.42184494_42184508dup	CA2637931011	HCRT	c.45_59dup (p.Leu20_Leu21insLeuLeuLeuLeuLeu)	gnomAD v4
17	g.42184492del	CA2637931012	HCRT	c.58del (p.Leu20CysfsTer?)	gnomAD v4
17	g.42184492G>A	CA500214057	HCRT	c.58C>T (p.Leu20=)	gnomAD v4
17	g.42184492G>C	CA399562400	HCRT	c.58C>G (p.Leu20Val)
17	g.42184492G>T	CA399562401	HCRT	c.58C>A (p.Leu20Met)	gnomAD v4
17	g.42184493C>A	CA500214059	HCRT	c.57G>T (p.Leu19=)	gnomAD v4
17	g.42184493C=	CA2260368406	HCRT	c.57G= (p.Leu19=)
17	g.42184493C>G	CA500214058	HCRT	c.57G>C (p.Leu19=)	gnomAD v4
17	g.42184493C>T	CA500214060	HCRT	c.57G>A (p.Leu19=)	gnomAD v4
17	g.42184494A=	CA2260368407	HCRT	c.56T= (p.Leu19=)
17	g.42184494A>C	CA399562402	HCRT	c.56T>G (p.Leu19Arg)
17	g.42184494A>G	CA8573274	HCRT	c.56T>C (p.Leu19Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184494A>T	CA399562403	HCRT	c.56T>A (p.Leu19Gln)
17	g.42184497_42184508dup	CA983804178	HCRT	c.45_56dup (p.Leu19_Leu20insLeuLeuLeuLeu)	dbSNP gnomAD v3 gnomAD v4
17	g.42184495G>A	CA500214061	HCRT	c.55C>T (p.Leu19=)	gnomAD v4
17	g.42184495G>C	CA399562404	HCRT	c.55C>G (p.Leu19Val)
17	g.42184495G>T	CA399562405	HCRT	c.55C>A (p.Leu19Met)
17	g.42184496C>A	CA8573275	HCRT	c.54G>T (p.Leu18=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42184496C=	CA2260368408	HCRT	c.54G= (p.Leu18=)
17	g.42184496C>G	CA500214062	HCRT	c.54G>C (p.Leu18=)
17	g.42184496C>T	CA500214063	HCRT	c.54G>A (p.Leu18=)	gnomAD v4
17	g.42184497del	CA2637931013	HCRT	c.53del (p.Leu18ArgfsTer?)	gnomAD v4
17	g.42184497A>C	CA399562406	HCRT	c.53T>G (p.Leu18Arg)
17	g.42184497A>G	CA399562407	HCRT	c.53T>C (p.Leu18Pro)
17	g.42184497A>T	CA399562408	HCRT	c.53T>A (p.Leu18Gln)
17	g.42184500_42184508dup	CA626217903	HCRT	c.45_53dup (p.Leu18_Leu19insLeuLeuLeu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184498G>A	CA500214064	HCRT	c.52C>T (p.Leu18=)	gnomAD v4
17	g.42184498G>C	CA399562409	HCRT	c.52C>G (p.Leu18Val)
17	g.42184498G>T	CA399562410	HCRT	c.52C>A (p.Leu18Met)	gnomAD v4
17	g.42184498_42184499del	CA2637931014	HCRT	c.51_52del (p.Leu18AlafsTer?)	gnomAD v4
17	g.42184499C>A	CA500214066	HCRT	c.51G>T (p.Leu17=)
17	g.42184499C=	CA2260368409	HCRT	c.51G= (p.Leu17=)
17	g.42184499C>G	CA500214065	HCRT	c.51G>C (p.Leu17=)
17	g.42184499C>T	CA500214067	HCRT	c.51G>A (p.Leu17=)	dbSNP gnomAD v3 gnomAD v4
17	g.42184499_42184500del	CA2637931015	HCRT	c.50_51del (p.Leu17ProfsTer?)	gnomAD v4
17	g.42184500A>C	CA399562411	HCRT	c.50T>G (p.Leu17Arg)
17	g.42184500A>G	CA399562412	HCRT	c.50T>C (p.Leu17Pro)
17	g.42184500A>T	CA399562413	HCRT	c.50T>A (p.Leu17Gln)
17	g.42184503_42184508dup	CA2260368410	HCRT	c.45_50dup (p.Leu17_Leu18insLeuLeu)	dbSNP
17	g.42184501G>A	CA500214068	HCRT	c.49C>T (p.Leu17=)	gnomAD v4
17	g.42184501G>C	CA399562414	HCRT	c.49C>G (p.Leu17Val)
17	g.42184501G>T	CA399562415	HCRT	c.49C>A (p.Leu17Met)	gnomAD v4
17	g.42184502C>A	CA500214069	HCRT	c.48G>T (p.Leu16=)	gnomAD v4
17	g.42184502C=	CA2260368411	HCRT	c.48G= (p.Leu16=)
17	g.42184502C>G	CA500214070	HCRT	c.48G>C (p.Leu16=)
17	g.42184502C>T	CA8573276	HCRT	c.48G>A (p.Leu16=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42184503A=	CA2260368412	HCRT	c.47T= (p.Leu16=)
17	g.42184503A>C	CA118704	HCRT	c.47T>G (p.Leu16Arg)	ClinVar dbSNP
17	g.42184503A>G	CA399562416	HCRT	c.47T>C (p.Leu16Pro)
17	g.42184503A>T	CA399562417	HCRT	c.47T>A (p.Leu16Gln)
17	g.42184504G>A	CA500214071	HCRT	c.46C>T (p.Leu16=)	gnomAD v4
17	g.42184504G>C	CA399562418	HCRT	c.46C>G (p.Leu16Val)	dbSNP
17	g.42184504G=	CA2260368413	HCRT	c.46C= (p.Leu16=)
17	g.42184504G>T	CA399562419	HCRT	c.46C>A (p.Leu16Met)	gnomAD v4
17	g.42184505T>A	CA500214072	HCRT	c.45A>T (p.Leu15=)
17	g.42184505T>C	CA290717931	HCRT	c.45A>G (p.Leu15=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42184505T>G	CA500214073	HCRT	c.45A>C (p.Leu15=)
17	g.42184505T=	CA2260368414	HCRT	c.45A= (p.Leu15=)
17	g.42184506A=	CA2260368415	HCRT	c.44T= (p.Leu15=)
17	g.42184506A>C	CA399562420	HCRT	c.44T>G (p.Leu15Arg)
17	g.42184506A>G	CA399562421	HCRT	c.44T>C (p.Leu15Pro)	dbSNP gnomAD v4
17	g.42184506A>T	CA399562422	HCRT	c.44T>A (p.Leu15Gln)
17	g.42184507G>A	CA500214074	HCRT	c.43C>T (p.Leu15=)	gnomAD v4
17	g.42184507G>C	CA399562423	HCRT	c.43C>G (p.Leu15Val)	dbSNP gnomAD v4
17	g.42184507G=	CA2260368416	HCRT	c.43C= (p.Leu15=)
17	g.42184507G>T	CA399562424	HCRT	c.43C>A (p.Leu15Ile)	gnomAD v4

Number of alleles fetched