Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.1771072T>A	CA369952714	CLN8	c.18T>A (p.Asp6Glu)	ClinVar dbSNP
8	g.1771072T>C	CA459142820	CLN8	c.18T>C (p.Asp6=)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771072T>G	CA369952715	CLN8	c.18T>G (p.Asp6Glu)	ClinVar
8	g.1771072T=	CA1757666558	CLN8	c.18T= (p.Asp6=)
8	g.1771073G>A	CA369952716	CLN8	c.19G>A (p.Gly7Arg)	ClinVar dbSNP
8	g.1771073G>C	CA369952717	CLN8	c.19G>C (p.Gly7Arg)
8	g.1771073G=	CA1757666559	CLN8	c.19G= (p.Gly7=)
8	g.1771073G>T	CA4599174	CLN8	c.19G>T (p.Gly7Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771074G>A	CA369952718	CLN8	c.20G>A (p.Gly7Glu)
8	g.1771074G>C	CA369952719	CLN8	c.20G>C (p.Gly7Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771074G=	CA1757666560	CLN8	c.20G= (p.Gly7=)
8	g.1771074G>T	CA369952720	CLN8	c.20G>T (p.Gly7Val)
8	g.1771075G>A	CA4599176	CLN8	c.21G>A (p.Gly7=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771075G>C	CA4599175	CLN8	c.21G>C (p.Gly7=)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8	g.1771075G=	CA1757666561	CLN8	c.21G= (p.Gly7=)
8	g.1771075G>T	CA459142821	CLN8	c.21G>T (p.Gly7=)	COSMIC COSMIC
8	g.1771076G>A	CA170445581	CLN8	c.22G>A (p.Gly8Ser)	dbSNP
8	g.1771076G>C	CA369952721	CLN8	c.22G>C (p.Gly8Arg)
8	g.1771076G=	CA1757666562	CLN8	c.22G= (p.Gly8=)
8	g.1771076G>T	CA369952722	CLN8	c.22G>T (p.Gly8Cys)
8	g.1771077G>A	CA369952723	CLN8	c.23G>A (p.Gly8Asp)
8	g.1771077G>C	CA369952724	CLN8	c.23G>C (p.Gly8Ala)
8	g.1771077G=	CA1757666563	CLN8	c.23G= (p.Gly8=)
8	g.1771077G>T	CA4599177	CLN8	c.23G>T (p.Gly8Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771078C>A	CA459142824	CLN8	c.24C>A (p.Gly8=)
8	g.1771078C>G	CA459142823	CLN8	c.24C>G (p.Gly8=)
8	g.1771078C>T	CA459142822	CLN8	c.24C>T (p.Gly8=)	gnomAD v4
8	g.1771079A=	CA1757666564	CLN8	c.25A= (p.Thr9=)
8	g.1771079A>C	CA369952725	CLN8	c.25A>C (p.Thr9Pro)
8	g.1771079A>G	CA369952726	CLN8	c.25A>G (p.Thr9Ala)	dbSNP
8	g.1771079A>T	CA369952727	CLN8	c.25A>T (p.Thr9Ser)
8	g.1771080C>A	CA369952728	CLN8	c.26C>A (p.Thr9Lys)
8	g.1771080C=	CA1757666565	CLN8	c.26C= (p.Thr9=)
8	g.1771080C>G	CA369952729	CLN8	c.26C>G (p.Thr9Arg)
8	g.1771080C>T	CA369952730	CLN8	c.26C>T (p.Thr9Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.1771081A=	CA1757666566	CLN8	c.27A= (p.Thr9=)
8	g.1771081A>C	CA459142825	CLN8	c.27A>C (p.Thr9=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771081A>G	CA4599178	CLN8	c.27A>G (p.Thr9=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771081A>T	CA459142826	CLN8	c.27A>T (p.Thr9=)
8	g.1771082T>A	CA369952731	CLN8	c.28T>A (p.Ser10Thr)
8	g.1771082T>C	CA369952732	CLN8	c.28T>C (p.Ser10Pro)
8	g.1771082T>G	CA369952733	CLN8	c.28T>G (p.Ser10Ala)
8	g.1771083C>A	CA369952736	CLN8	c.29C>A (p.Ser10Ter)
8	g.1771083C=	CA1757666567	CLN8	c.29C= (p.Ser10=)
8	g.1771083C>G	CA369952735	CLN8	c.29C>G (p.Ser10Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771083C>T	CA369952734	CLN8	c.29C>T (p.Ser10Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.1771084A>C	CA459142827	CLN8	c.30A>C (p.Ser10=)
8	g.1771084A>G	CA459142828	CLN8	c.30A>G (p.Ser10=)
8	g.1771084A>T	CA459142829	CLN8	c.30A>T (p.Ser10=)
8	g.1771085G>A	CA369952737	CLN8	c.31G>A (p.Glu11Lys)
8	g.1771085G>C	CA369952738	CLN8	c.31G>C (p.Glu11Gln)	gnomAD v4
8	g.1771085G>T	CA369952739	CLN8	c.31G>T (p.Glu11Ter)
8	g.1771086A>C	CA369952740	CLN8	c.32A>C (p.Glu11Ala)
8	g.1771086A>G	CA369952741	CLN8	c.32A>G (p.Glu11Gly)
8	g.1771086A>T	CA369952742	CLN8	c.32A>T (p.Glu11Val)
8	g.1771087G>A	CA459142830	CLN8	c.33G>A (p.Glu11=)	ClinVar dbSNP
8	g.1771087G>C	CA369952743	CLN8	c.33G>C (p.Glu11Asp)
8	g.1771087G>T	CA369952744	CLN8	c.33G>T (p.Glu11Asp)
8	g.1771088A>C	CA369952745	CLN8	c.34A>C (p.Ser12Arg)
8	g.1771088A>G	CA369952746	CLN8	c.34A>G (p.Ser12Gly)
8	g.1771088A>T	CA369952747	CLN8	c.34A>T (p.Ser12Cys)
8	g.1771089G>A	CA369952748	CLN8	c.35G>A (p.Ser12Asn)	dbSNP gnomAD v4
8	g.1771089G>C	CA369952749	CLN8	c.35G>C (p.Ser12Thr)	ClinVar dbSNP gnomAD v4
8	g.1771089G=	CA1757666568	CLN8	c.35G= (p.Ser12=)
8	g.1771089G>T	CA369952750	CLN8	c.35G>T (p.Ser12Ile)	gnomAD v4
8	g.1771090C>A	CA369952751	CLN8	c.36C>A (p.Ser12Arg)
8	g.1771090C=	CA1757666569	CLN8	c.36C= (p.Ser12=)
8	g.1771090C>G	CA170445587	CLN8	c.36C>G (p.Ser12Arg)	dbSNP
8	g.1771090C>T	CA459142831	CLN8	c.36C>T (p.Ser12=)
8	g.1771091A=	CA1757666570	CLN8	c.37A= (p.Ile13=)
8	g.1771091A>C	CA369952752	CLN8	c.37A>C (p.Ile13Leu)
8	g.1771091A>G	CA369952753	CLN8	c.37A>G (p.Ile13Val)	ClinVar dbSNP
8	g.1771091A>T	CA369952754	CLN8	c.37A>T (p.Ile13Phe)
8	g.1771092T>A	CA369952755	CLN8	c.38T>A (p.Ile13Asn)
8	g.1771092T>C	CA369952756	CLN8	c.38T>C (p.Ile13Thr)	gnomAD v4
8	g.1771092T>G	CA369952757	CLN8	c.38T>G (p.Ile13Ser)
8	g.1771093T>A	CA459142832	CLN8	c.39T>A (p.Ile13=)	ClinVar dbSNP
8	g.1771093T>C	CA459142833	CLN8	c.39T>C (p.Ile13=)
8	g.1771093T>G	CA369952758	CLN8	c.39T>G (p.Ile13Met)	ClinVar dbSNP
8	g.1771093T=	CA1757666571	CLN8	c.39T= (p.Ile13=)
8	g.1771094T>A	CA369952759	CLN8	c.40T>A (p.Phe14Ile)
8	g.1771094T>C	CA369952760	CLN8	c.40T>C (p.Phe14Leu)
8	g.1771094T>G	CA4599179	CLN8	c.40T>G (p.Phe14Val)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771094T=	CA1757666572	CLN8	c.40T= (p.Phe14=)
8	g.1771095T>A	CA369952761	CLN8	c.41T>A (p.Phe14Tyr)
8	g.1771095T>C	CA170445591	CLN8	c.41T>C (p.Phe14Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771095T>G	CA369952762	CLN8	c.41T>G (p.Phe14Cys)
8	g.1771095T=	CA1757666573	CLN8	c.41T= (p.Phe14=)
8	g.1771096T>A	CA369952763	CLN8	c.42T>A (p.Phe14Leu)
8	g.1771096T>C	CA459142834	CLN8	c.42T>C (p.Phe14=)
8	g.1771096T>G	CA369952764	CLN8	c.42T>G (p.Phe14Leu)
8	g.1771097del	CA2580614301	CLN8	c.43del (p.Asp15ThrfsTer13)	ClinVar
8	g.1771097G>A	CA369952765	CLN8	c.43G>A (p.Asp15Asn)
8	g.1771097G>C	CA369952767	CLN8	c.43G>C (p.Asp15His)
8	g.1771097G=	CA1757666574	CLN8	c.43G= (p.Asp15=)
8	g.1771097G>T	CA369952766	CLN8	c.43G>T (p.Asp15Tyr)	dbSNP gnomAD v2 gnomAD v4
8	g.1771098A>C	CA369952768	CLN8	c.44A>C (p.Asp15Ala)
8	g.1771098A>G	CA369952770	CLN8	c.44A>G (p.Asp15Gly)
8	g.1771098A>T	CA369952769	CLN8	c.44A>T (p.Asp15Val)
8	g.1771099C>A	CA369952771	CLN8	c.45C>A (p.Asp15Glu)
8	g.1771099C=	CA1757666575	CLN8	c.45C= (p.Asp15=)
8	g.1771099C>G	CA369952772	CLN8	c.45C>G (p.Asp15Glu)
8	g.1771099C>T	CA4599180	CLN8	c.45C>T (p.Asp15=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771100C>A	CA264170	CLN8	c.46C>A (p.Leu16Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771100C=	CA1757666576	CLN8	c.46C= (p.Leu16=)
8	g.1771100C>G	CA369952773	CLN8	c.46C>G (p.Leu16Val)	dbSNP gnomAD v2 gnomAD v4
8	g.1771100C>T	CA459142835	CLN8	c.46C>T (p.Leu16=)	ClinVar dbSNP
8	g.1771100_1771101delinsCT	CA1757666577	CLN8	c.46_47delinsCT (p.Leu16=)
8	g.1771101del	CA16041179	CLN8	c.47del (p.Leu16ArgfsTer12)	ClinVar dbSNP
8	g.1771101T>A	CA369952774	CLN8	c.47T>A (p.Leu16Gln)
8	g.1771101T>C	CA369952775	CLN8	c.47T>C (p.Leu16Pro)
8	g.1771101T>G	CA10605786	CLN8	c.47T>G (p.Leu16Arg)	ClinVar dbSNP gnomAD v4
8	g.1771101T=	CA1757666578	CLN8	c.47T= (p.Leu16=)
8	g.1771102G>A	CA459142836	CLN8	c.48G>A (p.Leu16=) c.1G>A
8	g.1771102G>C	CA459142837	CLN8	c.48G>C (p.Leu16=) c.1G>C	ClinVar dbSNP
8	g.1771102G>T	CA459142838	CLN8	c.48G>T (p.Leu16=) c.1G>T
8	g.1771103G>A	CA369952776	CLN8	c.49G>A (p.Asp17Asn) c.2G>A	gnomAD v4
8	g.1771103G>C	CA369952777	CLN8	c.49G>C (p.Asp17His) c.2G>C
8	g.1771103G>T	CA369952778	CLN8	c.49G>T (p.Asp17Tyr) c.2G>T
8	g.1771103_1771104del	CA913129265	CLN8	c.49_50del (p.Asp17LeufsTer?) c.2_3del
8	g.1771103_1771104delinsGA	CA1757666580	CLN8	c.49_50delinsGA (p.Asp17=) c.2_3delinsGA
8	g.1771104del	CA658822432	CLN8	c.50del (p.Asp17AlafsTer11) c.3del	ClinVar dbSNP
8	g.1771104A=	CA1757666585	CLN8	c.50A= (p.Asp17=) c.3A=
8	g.1771104A>C	CA369952779	CLN8	c.50A>C (p.Asp17Ala) c.3A>C
8	g.1771104A>G	CA314035	CLN8	c.50A>G (p.Asp17Gly) c.3A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771104A>T	CA4599181	CLN8	c.50A>T (p.Asp17Val) c.3A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771105C>A	CA369952780	CLN8	c.51C>A (p.Asp17Glu) c.4C>A
8	g.1771105C>G	CA369952781	CLN8	c.51C>G (p.Asp17Glu) c.4C>G	gnomAD v4
8	g.1771105C>T	CA459142839	CLN8	c.51C>T (p.Asp17=) c.4C>T
8	g.1771106T>A	CA369952782	CLN8	c.52T>A (p.Tyr18Asn) c.5T>A
8	g.1771106T>C	CA369952783	CLN8	c.52T>C (p.Tyr18His) c.5T>C
8	g.1771106T>G	CA369952784	CLN8	c.52T>G (p.Tyr18Asp) c.5T>G
8	g.1771107A=	CA1757666588	CLN8	c.53A= (p.Tyr18=) c.6A=
8	g.1771107A>C	CA369952785	CLN8	c.53A>C (p.Tyr18Ser) c.6A>C	gnomAD v4
8	g.1771107A>G	CA4599182	CLN8	c.53A>G (p.Tyr18Cys) c.6A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.1771107A>T	CA314038	CLN8	c.53A>T (p.Tyr18Phe) c.6A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771108T>A	CA369952786	CLN8	c.54T>A (p.Tyr18Ter) c.7T>A
8	g.1771108T>C	CA459142840	CLN8	c.54T>C (p.Tyr18=) c.7T>C
8	g.1771108T>G	CA369952787	CLN8	c.54T>G (p.Tyr18Ter) c.7T>G
8	g.1771109G>A	CA369952790	CLN8	c.55G>A (p.Ala19Thr) c.8G>A
8	g.1771109G>C	CA369952789	CLN8	c.55G>C (p.Ala19Pro) c.8G>C
8	g.1771109G>T	CA369952788	CLN8	c.55G>T (p.Ala19Ser) c.8G>T
8	g.1771110C>A	CA170445600	CLN8	c.56C>A (p.Ala19Glu) c.9C>A	dbSNP
8	g.1771110C=	CA1757666590	CLN8	c.56C= (p.Ala19=) c.9C=
8	g.1771110C>G	CA369952791	CLN8	c.56C>G (p.Ala19Gly) c.9C>G
8	g.1771110C>T	CA170445602	CLN8	c.56C>T (p.Ala19Val) c.9C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771111A=	CA1757666591	CLN8	c.57A= (p.Ala19=) c.10A=
8	g.1771111A>C	CA459142843	CLN8	c.57A>C (p.Ala19=) c.10A>C	dbSNP
8	g.1771111A>G	CA459142842	CLN8	c.57A>G (p.Ala19=) c.10A>G	ClinVar dbSNP
8	g.1771111A>T	CA459142841	CLN8	c.57A>T (p.Ala19=) c.10A>T
8	g.1771112T>A	CA369952792	CLN8	c.58T>A (p.Ser20Thr) c.11T>A
8	g.1771112T>C	CA369952793	CLN8	c.58T>C (p.Ser20Pro) c.11T>C
8	g.1771112T>G	CA369952794	CLN8	c.58T>G (p.Ser20Ala) c.11T>G
8	g.1771113C>A	CA369952795	CLN8	c.59C>A (p.Ser20Tyr) c.12C>A
8	g.1771113C=	CA1757666593	CLN8	c.59C= (p.Ser20=) c.12C=
8	g.1771113C>G	CA314041	CLN8	c.59C>G (p.Ser20Cys) c.12C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771113C>T	CA170445605	CLN8	c.59C>T (p.Ser20Phe) c.12C>T	ClinVar dbSNP gnomAD v4
8	g.1771114C>A	CA459142844	CLN8	c.60C>A (p.Ser20=) c.13C>A	gnomAD v4
8	g.1771114C>G	CA459142845	CLN8	c.60C>G (p.Ser20=) c.13C>G
8	g.1771114C>T	CA459142846	CLN8	c.60C>T (p.Ser20=) c.13C>T
8	g.1771115T>A	CA369952796	CLN8	c.61T>A (p.Trp21Arg) c.14T>A
8	g.1771115T>C	CA369952797	CLN8	c.61T>C (p.Trp21Arg) c.14T>C	gnomAD v4
8	g.1771115T>G	CA369952798	CLN8	c.61T>G (p.Trp21Gly) c.14T>G
8	g.1771115_1771116delinsTG	CA1757666595	CLN8	c.61_62delinsTG (p.Trp21=) c.14_15delinsTG
8	g.1771116G>A	CA369952799	CLN8	c.62G>A (p.Trp21Ter) c.15G>A	dbSNP
8	g.1771116G>C	CA369952801	CLN8	c.62G>C (p.Trp21Ser) c.15G>C	gnomAD v4
8	g.1771116G=	CA1757666596	CLN8	c.62G= (p.Trp21=) c.15G=
8	g.1771116G>T	CA369952800	CLN8	c.62G>T (p.Trp21Leu) c.15G>T
8	g.1771120dup	CA170445608	CLN8	c.66dup (p.Ile23AspfsTer?) c.19dup	dbSNP
8	g.1771120del	CA264190	CLN8	c.66del (p.Ile23SerfsTer5) c.19del	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.1771117G>A	CA369952802	CLN8	c.63G>A (p.Trp21Ter) c.16G>A	dbSNP gnomAD v3 gnomAD v4
8	g.1771117G>C	CA4599183	CLN8	c.63G>C (p.Trp21Cys) c.16G>C	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771117G=	CA1757666598	CLN8	c.63G= (p.Trp21=) c.16G=
8	g.1771117G>T	CA369952803	CLN8	c.63G>T (p.Trp21Cys) c.16G>T
8	g.1771118G>A	CA369952804	CLN8	c.64G>A (p.Gly22Arg) c.17G>A	gnomAD v4
8	g.1771118G>C	CA369952805	CLN8	c.64G>C (p.Gly22Arg) c.17G>C	gnomAD v4
8	g.1771118G>T	CA369952806	CLN8	c.64G>T (p.Gly22Trp) c.17G>T
8	g.1771119G>A	CA4599185	CLN8	c.65G>A (p.Gly22Glu) c.18G>A	dbSNP ExAC gnomAD v2 COSMIC
8	g.1771119G>C	CA369952807	CLN8	c.65G>C (p.Gly22Ala) c.18G>C
8	g.1771119G=	CA1757666599	CLN8	c.65G= (p.Gly22=) c.18G=
8	g.1771119G>T	CA4599184	CLN8	c.65G>T (p.Gly22Val) c.18G>T	dbSNP ExAC gnomAD v2
8	g.1771120G>A	CA459142847	CLN8	c.66G>A (p.Gly22=) c.19G>A	dbSNP gnomAD v4
8	g.1771120G>C	CA459142848	CLN8	c.66G>C (p.Gly22=) c.19G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771120G=	CA1757666601	CLN8	c.66G= (p.Gly22=) c.19G=
8	g.1771120G>T	CA4599186	CLN8	c.66G>T (p.Gly22=) c.19G>T	dbSNP ExAC gnomAD v2
8	g.1771120_1771128del	CA2685938946	CLN8	c.66_74del (p.Ile23_Ser25del) c.19_27del	gnomAD v4
8	g.1771120_1771129delinsGATCCGCTCC	CA1757666600	CLN8	c.66_75delinsGATCCGCTCC (p.Gly22=) c.19_28delinsGATCCGCTCC
8	g.1771121del	CA1109661002	CLN8	c.67del (p.Ile23SerfsTer5) c.20del	gnomAD v3 gnomAD v4
8	g.1771121A=	CA1757666602	CLN8	c.67A= (p.Ile23=) c.20A=
8	g.1771121A>C	CA369952809	CLN8	c.67A>C (p.Ile23Leu) c.20A>C
8	g.1771121A>G	CA369952810	CLN8	c.67A>G (p.Ile23Val) c.20A>G	dbSNP gnomAD v4
8	g.1771121A>T	CA369952808	CLN8	c.67A>T (p.Ile23Phe) c.20A>T
8	g.1771122_1771130del	CA849329387	CLN8	c.68_76del (p.Ile23_Ser25del) c.21_29del	ClinVar dbSNP
8	g.1771122T>A	CA369952813	CLN8	c.68T>A (p.Ile23Asn) c.21T>A	gnomAD v4
8	g.1771122T>C	CA369952811	CLN8	c.68T>C (p.Ile23Thr) c.21T>C
8	g.1771122T>G	CA369952812	CLN8	c.68T>G (p.Ile23Ser) c.21T>G
8	g.1771123C>A	CA459142849	CLN8	c.69C>A (p.Ile23=) c.22C>A
8	g.1771123C>G	CA369952814	CLN8	c.69C>G (p.Ile23Met) c.22C>G	COSMIC COSMIC
8	g.1771123C>T	CA459142850	CLN8	c.69C>T (p.Ile23=) c.22C>T
8	g.1771124_1771131del	CA1109661011	CLN8	c.70_77del (p.Arg24AlafsTer?) c.23_30del	gnomAD v3 gnomAD v4
8	g.1771124C>A	CA369952815	CLN8	c.70C>A (p.Arg24Ser) c.23C>A
8	g.1771124C=	CA1757666603	CLN8	c.70C= (p.Arg24=) c.23C=
8	g.1771124C>G	CA340024	CLN8	c.70C>G (p.Arg24Gly) c.23C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771124C>T	CA4599187	CLN8	c.70C>T (p.Arg24Cys) c.23C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.1771125G>A	CA4599188	CLN8	c.71G>A (p.Arg24His) c.24G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771125G>C	CA369952816	CLN8	c.71G>C (p.Arg24Pro) c.24G>C
8	g.1771125G=	CA1757666604	CLN8	c.71G= (p.Arg24=) c.24G=
8	g.1771125G>T	CA369952817	CLN8	c.71G>T (p.Arg24Leu) c.24G>T	ClinVar gnomAD v4
8	g.1771126C>A	CA459142852	CLN8	c.72C>A (p.Arg24=) c.25C>A
8	g.1771126C=	CA1757666606	CLN8	c.72C= (p.Arg24=) c.25C=
8	g.1771126C>G	CA459142851	CLN8	c.72C>G (p.Arg24=) c.25C>G
8	g.1771126C>T	CA4599189	CLN8	c.72C>T (p.Arg24=) c.25C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771127T>A	CA369952818	CLN8	c.73T>A (p.Ser25Thr) c.26T>A
8	g.1771127T>C	CA4599190	CLN8	c.73T>C (p.Ser25Pro) c.26T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771127T>G	CA369952819	CLN8	c.73T>G (p.Ser25Ala) c.26T>G
8	g.1771127T=	CA1757666608	CLN8	c.73T= (p.Ser25=) c.26T=
8	g.1771128C>A	CA369952820	CLN8	c.74C>A (p.Ser25Tyr) c.27C>A
8	g.1771128C=	CA1757666701	CLN8	c.74C= (p.Ser25=) c.27C=
8	g.1771128C>G	CA369952822	CLN8	c.74C>G (p.Ser25Cys) c.27C>G	dbSNP gnomAD v3 gnomAD v4
8	g.1771128C>T	CA369952821	CLN8	c.74C>T (p.Ser25Phe) c.27C>T
8	g.1771129C>A	CA459142853	CLN8	c.75C>A (p.Ser25=) c.28C>A
8	g.1771129C=	CA1757666704	CLN8	c.75C= (p.Ser25=) c.28C=
8	g.1771129C>G	CA459142854	CLN8	c.75C>G (p.Ser25=) c.28C>G
8	g.1771129C>T	CA459142855	CLN8	c.75C>T (p.Ser25=) c.28C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.1771130A=	CA1757666707	CLN8	c.76A= (p.Thr26=) c.29A=
8	g.1771130A>C	CA369952823	CLN8	c.76A>C (p.Thr26Pro) c.29A>C
8	g.1771130A>G	CA369952824	CLN8	c.76A>G (p.Thr26Ala) c.29A>G
8	g.1771130A>T	CA369952825	CLN8	c.76A>T (p.Thr26Ser) c.29A>T	ClinVar dbSNP
8	g.1771131C>A	CA369952826	CLN8	c.77C>A (p.Thr26Lys) c.30C>A
8	g.1771131C=	CA1757666713	CLN8	c.77C= (p.Thr26=) c.30C=
8	g.1771131C>G	CA369952827	CLN8	c.77C>G (p.Thr26Arg) c.30C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771131C>T	CA4599191	CLN8	c.77C>T (p.Thr26Met) c.30C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.1771132G>A	CA170445623	CLN8	c.78G>A (p.Thr26=) c.31G>A	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
8	g.1771132G>C	CA459142857	CLN8	c.78G>C (p.Thr26=) c.31G>C	gnomAD v4
8	g.1771132G=	CA1757666719	CLN8	c.78G= (p.Thr26=) c.31G=
8	g.1771132G>T	CA459142856	CLN8	c.78G>T (p.Thr26=) c.31G>T
8	g.1771133C>A	CA369952828	CLN8	c.79C>A (p.Leu27Met) c.32C>A
8	g.1771133C=	CA1757666721	CLN8	c.79C= (p.Leu27=) c.32C=
8	g.1771133C>G	CA369952829	CLN8	c.79C>G (p.Leu27Val) c.32C>G	dbSNP gnomAD v4
8	g.1771133C>T	CA459142858	CLN8	c.79C>T (p.Leu27=) c.32C>T
8	g.1771134T>A	CA369952830	CLN8	c.80T>A (p.Leu27Gln) c.33T>A
8	g.1771134T>C	CA369952831	CLN8	c.80T>C (p.Leu27Pro) c.33T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771134T>G	CA369952832	CLN8	c.80T>G (p.Leu27Arg) c.33T>G
8	g.1771134T=	CA1757666726	CLN8	c.80T= (p.Leu27=) c.33T=
8	g.1771135G>A	CA459142859	CLN8	c.81G>A (p.Leu27=) c.34G>A
8	g.1771135G>C	CA459142860	CLN8	c.81G>C (p.Leu27=) c.34G>C
8	g.1771135G>T	CA459142861	CLN8	c.81G>T (p.Leu27=) c.34G>T
8	g.1771136A=	CA1757666728	CLN8	c.82A= (p.Met28=) c.35A=
8	g.1771136A>C	CA369952834	CLN8	c.82A>C (p.Met28Leu) c.35A>C
8	g.1771136A>G	CA369952835	CLN8	c.82A>G (p.Met28Val) c.35A>G
8	g.1771136A>T	CA369952833	CLN8	c.82A>T (p.Met28Leu) c.35A>T	dbSNP gnomAD v4
8	g.1771137T>A	CA369952836	CLN8	c.83T>A (p.Met28Lys) c.36T>A
8	g.1771137T>C	CA369952837	CLN8	c.83T>C (p.Met28Thr) c.36T>C
8	g.1771137T>G	CA369952838	CLN8	c.83T>G (p.Met28Arg) c.36T>G
8	g.1771138G>A	CA170445625	CLN8	c.84G>A (p.Met28Ile) c.37G>A	dbSNP COSMIC COSMIC
8	g.1771138G>C	CA369952839	CLN8	c.84G>C (p.Met28Ile) c.37G>C	dbSNP gnomAD v3 gnomAD v4
8	g.1771138G=	CA1757666731	CLN8	c.84G= (p.Met28=) c.37G=
8	g.1771138G>T	CA369952840	CLN8	c.84G>T (p.Met28Ile) c.37G>T	COSMIC COSMIC
8	g.1771139G>A	CA369952841	CLN8	c.85G>A (p.Val29Ile) c.38G>A
8	g.1771139G>C	CA369952842	CLN8	c.85G>C (p.Val29Leu) c.38G>C
8	g.1771139G=	CA1757666736	CLN8	c.85G= (p.Val29=) c.38G=
8	g.1771139G>T	CA4599192	CLN8	c.85G>T (p.Val29Phe) c.38G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771140T>A	CA369952843	CLN8	c.86T>A (p.Val29Asp) c.39T>A
8	g.1771140T>C	CA369952844	CLN8	c.86T>C (p.Val29Ala) c.39T>C
8	g.1771140T>G	CA369952845	CLN8	c.86T>G (p.Val29Gly) c.39T>G
8	g.1771141C>A	CA4599193	CLN8	c.87C>A (p.Val29=) c.40C>A	dbSNP ExAC gnomAD v2
8	g.1771141C=	CA1757666741	CLN8	c.87C= (p.Val29=) c.40C=
8	g.1771141C>G	CA459142863	CLN8	c.87C>G (p.Val29=) c.40C>G
8	g.1771141C>T	CA459142862	CLN8	c.87C>T (p.Val29=) c.40C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.1771141_1771142delinsCG	CA1757666740	CLN8	c.87_88delinsCG (p.Val29=) c.40_41delinsCG
8	g.1771142del	CA264194	CLN8	c.88del (p.Ala30LeufsTer20) c.41del	ClinVar dbSNP
8	g.1771142G>A	CA4599195	CLN8	c.88G>A (p.Ala30Thr) c.41G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771142G>C	CA252420	CLN8	c.88G>C (p.Ala30Pro) c.41G>C	ClinVar dbSNP
8	g.1771142G=	CA1757666753	CLN8	c.88G= (p.Ala30=) c.41G=
8	g.1771142G>T	CA4599194	CLN8	c.88G>T (p.Ala30Ser) c.41G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771143C>A	CA369952846	CLN8	c.89C>A (p.Ala30Asp) c.42C>A
8	g.1771143C>G	CA369952847	CLN8	c.89C>G (p.Ala30Gly) c.42C>G
8	g.1771143C>T	CA369952848	CLN8	c.89C>T (p.Ala30Val) c.42C>T	gnomAD v4
8	g.1771144T>A	CA459142864	CLN8	c.90T>A (p.Ala30=) c.43T>A
8	g.1771144T>C	CA4599196	CLN8	c.90T>C (p.Ala30=) c.43T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771144T>G	CA170445637	CLN8	c.90T>G (p.Ala30=) c.43T>G	ClinVar dbSNP
8	g.1771144T=	CA1757666757	CLN8	c.90T= (p.Ala30=) c.43T=
8	g.1771145G>A	CA369952851	CLN8	c.91G>A (p.Gly31Ser) c.44G>A	dbSNP gnomAD v3 gnomAD v4
8	g.1771145G>C	CA369952850	CLN8	c.91G>C (p.Gly31Arg) c.44G>C
8	g.1771145G=	CA1757666760	CLN8	c.91G= (p.Gly31=) c.44G=
8	g.1771145G>T	CA369952849	CLN8	c.91G>T (p.Gly31Cys) c.44G>T
8	g.1771146G>A	CA369952852	CLN8	c.92G>A (p.Gly31Asp) c.45G>A	ClinVar dbSNP gnomAD v2
8	g.1771146G>C	CA369952853	CLN8	c.92G>C (p.Gly31Ala) c.45G>C	dbSNP
8	g.1771146G=	CA1757666765	CLN8	c.92G= (p.Gly31=) c.45G=
8	g.1771146G>T	CA369952854	CLN8	c.92G>T (p.Gly31Val) c.45G>T	dbSNP gnomAD v2 gnomAD v4
8	g.1771147C>A	CA459142865	CLN8	c.93C>A (p.Gly31=) c.46C>A
8	g.1771147C=	CA1757666768	CLN8	c.93C= (p.Gly31=) c.46C=
8	g.1771147C>G	CA459142866	CLN8	c.93C>G (p.Gly31=) c.46C>G
8	g.1771147C>T	CA170445639	CLN8	c.93C>T (p.Gly31=) c.46C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771148T>A	CA369952855	CLN8	c.94T>A (p.Phe32Ile) c.47T>A
8	g.1771148T>C	CA4599197	CLN8	c.94T>C (p.Phe32Leu) c.47T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771148T>G	CA241756	CLN8	c.94T>G (p.Phe32Val) c.47T>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771148T=	CA1757666773	CLN8	c.94T= (p.Phe32=) c.47T=
8	g.1771149T>A	CA369952856	CLN8	c.95T>A (p.Phe32Tyr) c.48T>A
8	g.1771149T>C	CA369952858	CLN8	c.95T>C (p.Phe32Ser) c.48T>C
8	g.1771149T>G	CA369952857	CLN8	c.95T>G (p.Phe32Cys) c.48T>G
8	g.1771150T>A	CA369952859	CLN8	c.96T>A (p.Phe32Leu) c.49T>A
8	g.1771150T>C	CA459142867	CLN8	c.96T>C (p.Phe32=) c.49T>C	gnomAD v4
8	g.1771150T>G	CA369952860	CLN8	c.96T>G (p.Phe32Leu) c.49T>G
8	g.1771151G>A	CA369952861	CLN8	c.97G>A (p.Val33Ile) c.50G>A
8	g.1771151G>C	CA369952862	CLN8	c.97G>C (p.Val33Leu) c.50G>C	ClinVar dbSNP
8	g.1771151G=	CA1757666780	CLN8	c.97G= (p.Val33=) c.50G=
8	g.1771151G>T	CA369952863	CLN8	c.97G>T (p.Val33Phe) c.50G>T
8	g.1771152T>A	CA369952864	CLN8	c.98T>A (p.Val33Asp) c.51T>A	dbSNP gnomAD v2 gnomAD v4
8	g.1771152T>C	CA369952865	CLN8	c.98T>C (p.Val33Ala) c.51T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771152T>G	CA369952866	CLN8	c.98T>G (p.Val33Gly) c.51T>G	dbSNP gnomAD v3 gnomAD v4
8	g.1771152T=	CA1757666786	CLN8	c.98T= (p.Val33=) c.51T=
8	g.1771153C>A	CA459142868	CLN8	c.99C>A (p.Val33=) c.52C>A
8	g.1771153C=	CA1757666789	CLN8	c.99C= (p.Val33=) c.52C=
8	g.1771153C>G	CA459142869	CLN8	c.99C>G (p.Val33=) c.52C>G	dbSNP gnomAD v3 gnomAD v4
8	g.1771153C>T	CA170445643	CLN8	c.99C>T (p.Val33=) c.52C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771154T>A	CA369952867	CLN8	c.100T>A (p.Phe34Ile) c.53T>A
8	g.1771154T>C	CA369952868	CLN8	c.100T>C (p.Phe34Leu) c.53T>C
8	g.1771154T>G	CA369952869	CLN8	c.100T>G (p.Phe34Val) c.53T>G
8	g.1771155T>A	CA369952870	CLN8	c.101T>A (p.Phe34Tyr) c.54T>A
8	g.1771155T>C	CA369952871	CLN8	c.101T>C (p.Phe34Ser) c.54T>C
8	g.1771155T>G	CA369952872	CLN8	c.101T>G (p.Phe34Cys) c.54T>G
8	g.1771156C>A	CA369952874	CLN8	c.102C>A (p.Phe34Leu) c.55C>A
8	g.1771156C>G	CA369952873	CLN8	c.102C>G (p.Phe34Leu) c.55C>G
8	g.1771156C>T	CA459142870	CLN8	c.102C>T (p.Phe34=) c.55C>T	ClinVar dbSNP
8	g.1771157T>A	CA369952875	CLN8	c.103T>A (p.Tyr35Asn) c.56T>A
8	g.1771157T>C	CA369952876	CLN8	c.103T>C (p.Tyr35His) c.56T>C
8	g.1771157T>G	CA369952877	CLN8	c.103T>G (p.Tyr35Asp) c.56T>G
8	g.1771158A>C	CA369952878	CLN8	c.104A>C (p.Tyr35Ser) c.57A>C
8	g.1771158A>G	CA369952879	CLN8	c.104A>G (p.Tyr35Cys) c.57A>G
8	g.1771158A>T	CA369952880	CLN8	c.104A>T (p.Tyr35Phe) c.57A>T
8	g.1771159C>A	CA369952881	CLN8	c.105C>A (p.Tyr35Ter) c.58C>A
8	g.1771159C>G	CA369952882	CLN8	c.105C>G (p.Tyr35Ter) c.58C>G	ClinVar dbSNP gnomAD v4
8	g.1771159C>T	CA459142871	CLN8	c.105C>T (p.Tyr35=) c.58C>T
8	g.1771160T>A	CA369952883	CLN8	c.106T>A (p.Leu36Met) c.59T>A	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.1771160T>C	CA459142872	CLN8	c.106T>C (p.Leu36=) c.59T>C
8	g.1771160T>G	CA369952884	CLN8	c.106T>G (p.Leu36Val) c.59T>G
8	g.1771160T=	CA1757666794	CLN8	c.106T= (p.Leu36=) c.59T=
8	g.1771161T>A	CA369952885	CLN8	c.107T>A (p.Leu36Ter) c.60T>A
8	g.1771161T>C	CA369952886	CLN8	c.107T>C (p.Leu36Ser) c.60T>C	gnomAD v4
8	g.1771161T>G	CA369952887	CLN8	c.107T>G (p.Leu36Trp) c.60T>G
8	g.1771162G>A	CA459142873	CLN8	c.108G>A (p.Leu36=) c.61G>A
8	g.1771162G>C	CA4599198	CLN8	c.108G>C (p.Leu36Phe) c.61G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771162G=	CA1757666797	CLN8	c.108G= (p.Leu36=) c.61G=
8	g.1771162G>T	CA369952888	CLN8	c.108G>T (p.Leu36Phe) c.61G>T	dbSNP gnomAD v2 gnomAD v4
8	g.1771163_1771166dup	CA2580077990	CLN8	c.109_112dup (p.Val38GlyfsTer?) c.62_65dup	ClinVar
8	g.1771163G>A	CA4599199	CLN8	c.109G>A (p.Gly37Ser) c.62G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771163G>C	CA369952890	CLN8	c.109G>C (p.Gly37Arg) c.62G>C
8	g.1771163G=	CA1757666804	CLN8	c.109G= (p.Gly37=) c.62G=
8	g.1771163G>T	CA369952889	CLN8	c.109G>T (p.Gly37Cys) c.62G>T
8	g.1771164G>A	CA369952891	CLN8	c.110G>A (p.Gly37Asp) c.63G>A
8	g.1771164G>C	CA369952892	CLN8	c.110G>C (p.Gly37Ala) c.63G>C	dbSNP gnomAD v2 gnomAD v4
8	g.1771164G=	CA1757666807	CLN8	c.110G= (p.Gly37=) c.63G=
8	g.1771164G>T	CA369952893	CLN8	c.110G>T (p.Gly37Val) c.63G>T
8	g.1771165C>A	CA459142874	CLN8	c.111C>A (p.Gly37=) c.64C>A	ClinVar dbSNP gnomAD v4
8	g.1771165C=	CA1757666810	CLN8	c.111C= (p.Gly37=) c.64C=
8	g.1771165C>G	CA459142875	CLN8	c.111C>G (p.Gly37=) c.64C>G
8	g.1771165C>T	CA4599200	CLN8	c.111C>T (p.Gly37=) c.64C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771166G>A	CA4599201	CLN8	c.112G>A (p.Val38Ile) c.65G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771166G>C	CA369952894	CLN8	c.112G>C (p.Val38Leu) c.65G>C
8	g.1771166G=	CA1757666818	CLN8	c.112G= (p.Val38=) c.65G=
8	g.1771166G>T	CA4599202	CLN8	c.112G>T (p.Val38Phe) c.65G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771167T>A	CA369952895	CLN8	c.113T>A (p.Val38Asp) c.66T>A	gnomAD v4
8	g.1771167T>C	CA369952896	CLN8	c.113T>C (p.Val38Ala) c.66T>C
8	g.1771167T>G	CA369952897	CLN8	c.113T>G (p.Val38Gly) c.66T>G	gnomAD v4
8	g.1771168C>A	CA459142876	CLN8	c.114C>A (p.Val38=) c.67C>A	ClinVar dbSNP gnomAD v4
8	g.1771168C=	CA1757666823	CLN8	c.114C= (p.Val38=) c.67C=
8	g.1771168C>G	CA459142877	CLN8	c.114C>G (p.Val38=) c.67C>G	ClinVar dbSNP
8	g.1771168C>T	CA459142878	CLN8	c.114C>T (p.Val38=) c.67C>T
8	g.1771169T>A	CA369952898	CLN8	c.115T>A (p.Phe39Ile) c.68T>A
8	g.1771169T>C	CA369952899	CLN8	c.115T>C (p.Phe39Leu) c.68T>C
8	g.1771169T>G	CA369952900	CLN8	c.115T>G (p.Phe39Val) c.68T>G
8	g.1771170T>A	CA369952903	CLN8	c.116T>A (p.Phe39Tyr) c.69T>A
8	g.1771170T>C	CA369952901	CLN8	c.116T>C (p.Phe39Ser) c.69T>C
8	g.1771170T>G	CA369952902	CLN8	c.116T>G (p.Phe39Cys) c.69T>G
8	g.1771171T>A	CA369952904	CLN8	c.117T>A (p.Phe39Leu) c.70T>A
8	g.1771171T>C	CA4599204	CLN8	c.117T>C (p.Phe39=) c.70T>C	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.1771171T>G	CA4599203	CLN8	c.117T>G (p.Phe39Leu) c.70T>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.1771171T=	CA1757666830	CLN8	c.117T= (p.Phe39=) c.70T=
8	g.1771172G>A	CA369952905	CLN8	c.118G>A (p.Val40Met) c.71G>A	dbSNP gnomAD v2 gnomAD v4
8	g.1771172G>C	CA369952906	CLN8	c.118G>C (p.Val40Leu) c.71G>C
8	g.1771172G=	CA1757666833	CLN8	c.118G= (p.Val40=) c.71G=
8	g.1771172G>T	CA369952907	CLN8	c.118G>T (p.Val40Leu) c.71G>T

Number of alleles fetched