Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418465_219418509del	CA2663248423	DES	c.3_47del (p.Met1_Arg16delinsIle)	gnomAD v4
2	g.219418466_219418517dup	CA2663248413	DES	c.4_55dup (p.Gly19GlufsTer42)	gnomAD v4
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418499_219418511delinsTCCTACCGCCGCA	CA1329209815	DES	c.37_49delinsTCCTACCGCCGCA (p.Ser13=)
2	g.219418503_219418514del	CA1042519974	DES	c.41_52del (p.Tyr14_Thr17del)	dbSNP gnomAD v3 gnomAD v4
2	g.219418509G>A	CA350682349	DES	c.47G>A (p.Arg16His)	gnomAD v4 COSMIC
2	g.219418509G>C	CA350682353	DES	c.47G>C (p.Arg16Pro)
2	g.219418509G>T	CA350682361	DES	c.47G>T (p.Arg16Leu)	gnomAD v4
2	g.219418510C>A	CA431427418	DES	c.48C>A (p.Arg16=)	gnomAD v4
2	g.219418510C>G	CA431427420	DES	c.48C>G (p.Arg16=)
2	g.219418510C>T	CA431427419	DES	c.48C>T (p.Arg16=)	gnomAD v4
2	g.219418511_219418516dup	CA2586971375	DES	c.49_54dup (p.Phe18_Gly19insThrPhe)
2	g.219418511A=	CA1329209823	DES	c.49A= (p.Thr17=)
2	g.219418511A>C	CA350682368	DES	c.49A>C (p.Thr17Pro)	ClinVar
2	g.219418511A>G	CA350682377	DES	c.49A>G (p.Thr17Ala)
2	g.219418511A>T	CA350682380	DES	c.49A>T (p.Thr17Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418512C>A	CA350682384	DES	c.50C>A (p.Thr17Asn)	ClinVar dbSNP gnomAD v4
2	g.219418512C=	CA1329209824	DES	c.50C= (p.Thr17=)
2	g.219418512C>G	CA350682390	DES	c.50C>G (p.Thr17Ser)
2	g.219418512C>T	CA350682393	DES	c.50C>T (p.Thr17Ile)
2	g.219418513C>A	CA431427421	DES	c.51C>A (p.Thr17=)	gnomAD v4
2	g.219418513C>G	CA431427422	DES	c.51C>G (p.Thr17=)
2	g.219418513C>T	CA431427423	DES	c.51C>T (p.Thr17=)	gnomAD v4
2	g.219418514_219418516del	CA2663248730	DES	c.52_54del (p.Phe18del)	gnomAD v4
2	g.219418514T>A	CA350682396	DES	c.52T>A (p.Phe18Ile)	gnomAD v4
2	g.219418514T>C	CA350682397	DES	c.52T>C (p.Phe18Leu)
2	g.219418514T>G	CA350682399	DES	c.52T>G (p.Phe18Val)
2	g.219418515del	CA2663248738	DES	c.53del (p.Phe18SerfsTer13)	gnomAD v4
2	g.219418515T>A	CA350682414	DES	c.53T>A (p.Phe18Tyr)
2	g.219418515T>C	CA350682410	DES	c.53T>C (p.Phe18Ser)
2	g.219418515T>G	CA350682403	DES	c.53T>G (p.Phe18Cys)
2	g.219418516C>A	CA350682430	DES	c.54C>A (p.Phe18Leu)	gnomAD v4
2	g.219418516C=	CA1329209825	DES	c.54C= (p.Phe18=)
2	g.219418516C>G	CA350682419	DES	c.54C>G (p.Phe18Leu)	dbSNP gnomAD v4
2	g.219418516C>T	CA431427424	DES	c.54C>T (p.Phe18=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418517G>A	CA350682431	DES	c.55G>A (p.Gly19Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.219418517G>C	CA65980591	DES	c.55G>C (p.Gly19Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418517G=	CA1329209826	DES	c.55G= (p.Gly19=)
2	g.219418517G>T	CA350682434	DES	c.55G>T (p.Gly19Cys)
2	g.219418518G>A	CA350682436	DES	c.56G>A (p.Gly19Asp)
2	g.219418518G>C	CA350682437	DES	c.56G>C (p.Gly19Ala)
2	g.219418518G>T	CA350682438	DES	c.56G>T (p.Gly19Val)	gnomAD v4
2	g.219418518_219418537del	CA2663248758	DES	c.56_75del (p.Gly19AlafsTer18)	gnomAD v4
2	g.219418519C>A	CA431427427	DES	c.57C>A (p.Gly19=)	gnomAD v4
2	g.219418519C=	CA1329209827	DES	c.57C= (p.Gly19=)
2	g.219418519C>G	CA431427425	DES	c.57C>G (p.Gly19=)
2	g.219418519C>T	CA431427426	DES	c.57C>T (p.Gly19=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418520G>A	CA16610716	DES	c.58G>A (p.Gly20Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418520G>C	CA350682448	DES	c.58G>C (p.Gly20Arg)
2	g.219418520G=	CA1329209828	DES	c.58G= (p.Gly20=)
2	g.219418520G>T	CA350682443	DES	c.58G>T (p.Gly20Trp)	gnomAD v4
2	g.219418523del	CA2663248765	DES	c.61del (p.Ala21ProfsTer10)	gnomAD v4
2	g.219418521G>A	CA350682451	DES	c.59G>A (p.Gly20Glu)	ClinVar dbSNP gnomAD v4
2	g.219418521G>C	CA350682466	DES	c.59G>C (p.Gly20Ala)
2	g.219418521G>T	CA350682467	DES	c.59G>T (p.Gly20Val)	gnomAD v4
2	g.219418522G>A	CA431427428	DES	c.60G>A (p.Gly20=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418522G>C	CA65980598	DES	c.60G>C (p.Gly20=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418522G=	CA1329209829	DES	c.60G= (p.Gly20=)
2	g.219418522G>T	CA431427429	DES	c.60G>T (p.Gly20=)	gnomAD v4
2	g.219418523G>A	CA2125009	DES	c.61G>A (p.Ala21Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418523G>C	CA350682486	DES	c.61G>C (p.Ala21Pro)	dbSNP gnomAD v4
2	g.219418523G=	CA1329209830	DES	c.61G= (p.Ala21=)
2	g.219418523G>T	CA350682480	DES	c.61G>T (p.Ala21Ser)
2	g.219418524C>A	CA350682495	DES	c.62C>A (p.Ala21Asp)	ClinVar dbSNP gnomAD v4
2	g.219418524C=	CA1329209831	DES	c.62C= (p.Ala21=)
2	g.219418524C>G	CA350682502	DES	c.62C>G (p.Ala21Gly)
2	g.219418524C>T	CA2125010	DES	c.62C>T (p.Ala21Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418527dup	CA2663248807	DES	c.65dup (p.Phe24LeufsTer20)	gnomAD v4
2	g.219418527del	CA2663248809	DES	c.65del (p.Pro22ArgfsTer9)	gnomAD v4
2	g.219418525C>A	CA431427430	DES	c.63C>A (p.Ala21=)
2	g.219418525C=	CA1329209832	DES	c.63C= (p.Ala21=)
2	g.219418525C>G	CA431427431	DES	c.63C>G (p.Ala21=)
2	g.219418525C>T	CA2125011	DES	c.63C>T (p.Ala21=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418526C>A	CA350682539	DES	c.64C>A (p.Pro22Thr)
2	g.219418526C>G	CA350682560	DES	c.64C>G (p.Pro22Ala)
2	g.219418526C>T	CA350682570	DES	c.64C>T (p.Pro22Ser)	gnomAD v4
2	g.219418527C>A	CA350682575	DES	c.65C>A (p.Pro22Gln)	gnomAD v4
2	g.219418527C=	CA1329209833	DES	c.65C= (p.Pro22=)
2	g.219418527C>G	CA2125012	DES	c.65C>G (p.Pro22Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418527C>T	CA350682577	DES	c.65C>T (p.Pro22Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219418528G>A	CA2125013	DES	c.66G>A (p.Pro22=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418528G>C	CA431427432	DES	c.66G>C (p.Pro22=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418528G=	CA1329209834	DES	c.66G= (p.Pro22=)
2	g.219418528G>T	CA431427433	DES	c.66G>T (p.Pro22=)	gnomAD v4
2	g.219418530del	CA2663248851	DES	c.68del (p.Gly23AlafsTer8)	gnomAD v4
2	g.219418529G>A	CA350682590	DES	c.67G>A (p.Gly23Ser)
2	g.219418529G>C	CA350682594	DES	c.67G>C (p.Gly23Arg)
2	g.219418529G>T	CA350682585	DES	c.67G>T (p.Gly23Cys)	gnomAD v4
2	g.219418536_219418537insGCTCGGCTTCCC	CA2754326337	DES	c.74_75insGCTCGGCTTCCC (p.Pro25_Leu26insLeuGlyPhePro)
2	g.219418533_219418544del	CA2663248857	DES	c.71_82del (p.Phe24_Gly27del)	gnomAD v4
2	g.219418530G>A	CA2125014	DES	c.68G>A (p.Gly23Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418530G>C	CA350682602	DES	c.68G>C (p.Gly23Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418530G=	CA1329209835	DES	c.68G= (p.Gly23=)
2	g.219418530G>T	CA65980613	DES	c.68G>T (p.Gly23Val)	dbSNP gnomAD v4
2	g.219418531C>A	CA431427434	DES	c.69C>A (p.Gly23=)	gnomAD v4
2	g.219418531C>G	CA431427435	DES	c.69C>G (p.Gly23=)
2	g.219418531C>T	CA431427436	DES	c.69C>T (p.Gly23=)
2	g.219418532T>A	CA350682603	DES	c.70T>A (p.Phe24Ile)
2	g.219418532T>C	CA350682605	DES	c.70T>C (p.Phe24Leu)
2	g.219418532T>G	CA350682604	DES	c.70T>G (p.Phe24Val)
2	g.219418533T>A	CA350682615	DES	c.71T>A (p.Phe24Tyr)
2	g.219418533T>C	CA350682618	DES	c.71T>C (p.Phe24Ser)
2	g.219418533T>G	CA350682622	DES	c.71T>G (p.Phe24Cys)
2	g.219418533T=	CA1329209836	DES	c.71T= (p.Phe24=)
2	g.219418534C>A	CA350682626	DES	c.72C>A (p.Phe24Leu)	gnomAD v4
2	g.219418534C>G	CA350682628	DES	c.72C>G (p.Phe24Leu)
2	g.219418534C>T	CA431427437	DES	c.72C>T (p.Phe24=)
2	g.219418536_219418537insGCTCGGCTCCCC	CA539843107	DES	c.74_75insGCTCGGCTCCCC (p.Pro25_Leu26insLeuGlySerPro)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418535C>A	CA350682633	DES	c.73C>A (p.Pro25Thr)
2	g.219418535C=	CA1329209837	DES	c.73C= (p.Pro25=)
2	g.219418535C>G	CA350682640	DES	c.73C>G (p.Pro25Ala)	ClinVar
2	g.219418535C>T	CA350682642	DES	c.73C>T (p.Pro25Ser)	dbSNP gnomAD v2
2	g.219418536C>A	CA2125015	DES	c.74C>A (p.Pro25Gln)	dbSNP ExAC gnomAD v4
2	g.219418536C=	CA1329209838	DES	c.74C= (p.Pro25=)
2	g.219418536C>G	CA350682648	DES	c.74C>G (p.Pro25Arg)	gnomAD v4
2	g.219418536C>T	CA350682650	DES	c.74C>T (p.Pro25Leu)	gnomAD v4
2	g.219418536_219418537delinsTG	CA2573135504	DES	c.74_75delinsTG (p.Pro25Leu)	ClinVar
2	g.219418537A=	CA180796	DES	c.75A= (p.Pro25=)
2	g.219418537A>C	CA431427438	DES	c.75A>C (p.Pro25=)	dbSNP
2	g.219418537A>G	CA282355	DES	c.75A>G (p.Pro25=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418537A>T	CA431427439	DES	c.75A>T (p.Pro25=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418538C>A	CA350682673	DES	c.76C>A (p.Leu26Ile)	gnomAD v4
2	g.219418538C>G	CA350682686	DES	c.76C>G (p.Leu26Val)
2	g.219418538C>T	CA350682677	DES	c.76C>T (p.Leu26Phe)
2	g.219418539T>A	CA16617476	DES	c.77T>A (p.Leu26His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418539T>C	CA350682691	DES	c.77T>C (p.Leu26Pro)	gnomAD v4
2	g.219418539T>G	CA350682696	DES	c.77T>G (p.Leu26Arg)
2	g.219418539T=	CA1329209839	DES	c.77T= (p.Leu26=)
2	g.219418540C>A	CA431427442	DES	c.78C>A (p.Leu26=)	gnomAD v4
2	g.219418540C=	CA1329209840	DES	c.78C= (p.Leu26=)
2	g.219418540C>G	CA431427440	DES	c.78C>G (p.Leu26=)	ClinVar dbSNP
2	g.219418540C>T	CA431427441	DES	c.78C>T (p.Leu26=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418541G>A	CA184448	DES	c.79G>A (p.Gly27Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418541G>C	CA350682707	DES	c.79G>C (p.Gly27Arg)	ClinVar dbSNP gnomAD v4
2	g.219418541G=	CA1329209841	DES	c.79G= (p.Gly27=)
2	g.219418541G>T	CA350682711	DES	c.79G>T (p.Gly27Cys)
2	g.219418542G>A	CA350682712	DES	c.80G>A (p.Gly27Asp)	ClinVar dbSNP gnomAD v4
2	g.219418542G>C	CA350682713	DES	c.80G>C (p.Gly27Ala)
2	g.219418542G=	CA1329209842	DES	c.80G= (p.Gly27=)
2	g.219418542G>T	CA350682715	DES	c.80G>T (p.Gly27Val)	gnomAD v4 COSMIC
2	g.219418543C>A	CA431427443	DES	c.81C>A (p.Gly27=)	gnomAD v4
2	g.219418543C=	CA1329209843	DES	c.81C= (p.Gly27=)
2	g.219418543C>G	CA431427444	DES	c.81C>G (p.Gly27=)
2	g.219418543C>T	CA431427445	DES	c.81C>T (p.Gly27=)	dbSNP gnomAD v4
2	g.219418544T>A	CA350682727	DES	c.82T>A (p.Ser28Thr)
2	g.219418544T>C	CA350682721	DES	c.82T>C (p.Ser28Pro)	gnomAD v4
2	g.219418544T>G	CA350682716	DES	c.82T>G (p.Ser28Ala)
2	g.219418545C>A	CA350682730	DES	c.83C>A (p.Ser28Tyr)	gnomAD v4
2	g.219418545C=	CA1329209844	DES	c.83C= (p.Ser28=)
2	g.219418545C>G	CA350682734	DES	c.83C>G (p.Ser28Cys)
2	g.219418545C>T	CA350682745	DES	c.83C>T (p.Ser28Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418546C>A	CA431427446	DES	c.84C>A (p.Ser28=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418546C=	CA1329209845	DES	c.84C= (p.Ser28=)
2	g.219418546C>G	CA431427448	DES	c.84C>G (p.Ser28=)
2	g.219418546C>T	CA431427447	DES	c.84C>T (p.Ser28=)
2	g.219418551_219418571del	CA2577252443	DES	c.89_109del (p.Leu30_Pro36del)	gnomAD v4
2	g.219418547C>A	CA350682746	DES	c.85C>A (p.Pro29Thr)	gnomAD v4
2	g.219418547C>G	CA350682747	DES	c.85C>G (p.Pro29Ala)
2	g.219418547C>T	CA350682748	DES	c.85C>T (p.Pro29Ser)	gnomAD v4
2	g.219418548C>A	CA350682753	DES	c.86C>A (p.Pro29Gln)	gnomAD v4
2	g.219418548C=	CA1329209846	DES	c.86C= (p.Pro29=)
2	g.219418548C>G	CA350682749	DES	c.86C>G (p.Pro29Arg)	ClinVar gnomAD v4
2	g.219418548C>T	CA350682752	DES	c.86C>T (p.Pro29Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418549G>A	CA431427449	DES	c.87G>A (p.Pro29=)	gnomAD v4
2	g.219418549G>C	CA431427450	DES	c.87G>C (p.Pro29=)	COSMIC
2	g.219418549G>T	CA431427451	DES	c.87G>T (p.Pro29=)	ClinVar dbSNP gnomAD v4
2	g.219418550C>A	CA350682763	DES	c.88C>A (p.Leu30Met)	gnomAD v4
2	g.219418550C=	CA1329209847	DES	c.88C= (p.Leu30=)
2	g.219418550C>G	CA350682771	DES	c.88C>G (p.Leu30Val)
2	g.219418550C>T	CA431427452	DES	c.88C>T (p.Leu30=)	ClinVar dbSNP
2	g.219418551T>A	CA350682797	DES	c.89T>A (p.Leu30Gln)
2	g.219418551T>C	CA350682800	DES	c.89T>C (p.Leu30Pro)	gnomAD v4
2	g.219418551T>G	CA350682802	DES	c.89T>G (p.Leu30Arg)
2	g.219418552G>A	CA431427453	DES	c.90G>A (p.Leu30=)
2	g.219418552G>C	CA431427454	DES	c.90G>C (p.Leu30=)
2	g.219418552G>T	CA431427455	DES	c.90G>T (p.Leu30=)
2	g.219418553A=	CA1329209848	DES	c.91A= (p.Ser31=)
2	g.219418553A>C	CA350682807	DES	c.91A>C (p.Ser31Arg)
2	g.219418553A>G	CA350682825	DES	c.91A>G (p.Ser31Gly)
2	g.219418553A>T	CA350682818	DES	c.91A>T (p.Ser31Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418554G>A	CA65980645	DES	c.92G>A (p.Ser31Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.219418554G>C	CA350682830	DES	c.92G>C (p.Ser31Thr)
2	g.219418554G=	CA1329209849	DES	c.92G= (p.Ser31=)
2	g.219418554G>T	CA350682831	DES	c.92G>T (p.Ser31Ile)	gnomAD v4
2	g.219418554_219418555insC	CA1329209850	DES	c.92_93insC (p.Ser32PhefsTer12)	dbSNP
2	g.219418555T>A	CA350682844	DES	c.93T>A (p.Ser31Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.219418555T>C	CA282356	DES	c.93T>C (p.Ser31=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418555T>G	CA2125016	DES	c.93T>G (p.Ser31Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418555T=	CA180799	DES	c.93T= (p.Ser31=)
2	g.219418555_219418556insCGCCCCCCCGCTGAGC	CA1329209851	DES	c.93_94insCGCCCCCCCGCTGAGC (p.Ser32ArgfsTer17)	dbSNP
2	g.219418556T>A	CA350682857	DES	c.94T>A (p.Ser32Thr)
2	g.219418556T>C	CA350682858	DES	c.94T>C (p.Ser32Pro)
2	g.219418556T>G	CA350682859	DES	c.94T>G (p.Ser32Ala)
2	g.219418557C>A	CA350682866	DES	c.95C>A (p.Ser32Ter)	gnomAD v4
2	g.219418557C>G	CA350682863	DES	c.95C>G (p.Ser32Trp)
2	g.219418557C>T	CA350682860	DES	c.95C>T (p.Ser32Leu)	gnomAD v4
2	g.219418558G>A	CA431427456	DES	c.96G>A (p.Ser32=)	gnomAD v4
2	g.219418558G>C	CA431427457	DES	c.96G>C (p.Ser32=)	gnomAD v4
2	g.219418558G=	CA1329209852	DES	c.96G= (p.Ser32=)
2	g.219418558G>T	CA2125017	DES	c.96G>T (p.Ser32=)	dbSNP ExAC gnomAD v2
2	g.219418559C>A	CA350682868	DES	c.97C>A (p.Pro33Thr)
2	g.219418559C=	CA1329209853	DES	c.97C= (p.Pro33=)
2	g.219418559C>G	CA350682877	DES	c.97C>G (p.Pro33Ala)
2	g.219418559C>T	CA10604899	DES	c.97C>T (p.Pro33Ser)	ClinVar dbSNP
2	g.219418563_219418570dup	CA2663248924	DES	c.101_108dup (p.Arg37CysfsTer16)	gnomAD v4
2	g.219418560C>A	CA350682882	DES	c.98C>A (p.Pro33His)	gnomAD v4
2	g.219418560C>G	CA350682883	DES	c.98C>G (p.Pro33Arg)
2	g.219418560C>T	CA350682884	DES	c.98C>T (p.Pro33Leu)	gnomAD v4
2	g.219418561C>A	CA431427459	DES	c.99C>A (p.Pro33=)	gnomAD v4
2	g.219418561C=	CA1329209854	DES	c.99C= (p.Pro33=)
2	g.219418561C>G	CA431427460	DES	c.99C>G (p.Pro33=)	gnomAD v4
2	g.219418561C>T	CA2125018	DES	c.99C>T (p.Pro33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418562G>A	CA2125019	DES	c.100G>A (p.Val34Met)	ClinVar dbSNP ExAC gnomAD v4
2	g.219418562G>C	CA350682888	DES	c.100G>C (p.Val34Leu)
2	g.219418562G=	CA1329209855	DES	c.100G= (p.Val34=)
2	g.219418562G>T	CA350682889	DES	c.100G>T (p.Val34Leu)	gnomAD v4
2	g.219418563T>A	CA350682891	DES	c.101T>A (p.Val34Glu)
2	g.219418563T>C	CA350682894	DES	c.101T>C (p.Val34Ala)
2	g.219418563T>G	CA350682902	DES	c.101T>G (p.Val34Gly)
2	g.219418564G>A	CA431427462	DES	c.102G>A (p.Val34=)
2	g.219418564G>C	CA431427463	DES	c.102G>C (p.Val34=)
2	g.219418564G>T	CA431427464	DES	c.102G>T (p.Val34=)
2	g.219418565T>A	CA350682909	DES	c.103T>A (p.Phe35Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.219418565T>C	CA350682905	DES	c.103T>C (p.Phe35Leu)	ClinVar gnomAD v4
2	g.219418565T>G	CA350682907	DES	c.103T>G (p.Phe35Val)	gnomAD v3 gnomAD v4
2	g.219418566T>A	CA350682910	DES	c.104T>A (p.Phe35Tyr)
2	g.219418566T>C	CA350682911	DES	c.104T>C (p.Phe35Ser)	ClinVar dbSNP
2	g.219418566T>G	CA350682912	DES	c.104T>G (p.Phe35Cys)
2	g.219418566T=	CA1329209856	DES	c.104T= (p.Phe35=)
2	g.219418567C>A	CA2125020	DES	c.105C>A (p.Phe35Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418567C=	CA1329209857	DES	c.105C= (p.Phe35=)
2	g.219418567C>G	CA350682917	DES	c.105C>G (p.Phe35Leu)	ClinVar dbSNP
2	g.219418567C>T	CA431427466	DES	c.105C>T (p.Phe35=)
2	g.219418568C>A	CA350682925	DES	c.106C>A (p.Pro36Thr)	gnomAD v4
2	g.219418568C=	CA1329209858	DES	c.106C= (p.Pro36=)
2	g.219418568C>G	CA350682938	DES	c.106C>G (p.Pro36Ala)
2	g.219418568C>T	CA350682940	DES	c.106C>T (p.Pro36Ser)	ClinVar dbSNP gnomAD v4
2	g.219418569C>A	CA350682941	DES	c.107C>A (p.Pro36Gln)	gnomAD v4
2	g.219418569C=	CA1329209859	DES	c.107C= (p.Pro36=)
2	g.219418569C>G	CA2125021	DES	c.107C>G (p.Pro36Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418569C>T	CA350682942	DES	c.107C>T (p.Pro36Leu)	gnomAD v4 COSMIC
2	g.219418570G>A	CA431427469	DES	c.108G>A (p.Pro36=)	dbSNP gnomAD v4
2	g.219418570G>C	CA431427470	DES	c.108G>C (p.Pro36=)
2	g.219418570G=	CA1329209860	DES	c.108G= (p.Pro36=)
2	g.219418570G>T	CA431427472	DES	c.108G>T (p.Pro36=)	dbSNP gnomAD v4
2	g.219418571C>A	CA431427474	DES	c.109C>A (p.Arg37=)	ClinVar gnomAD v4
2	g.219418571C=	CA1329209861	DES	c.109C= (p.Arg37=)
2	g.219418571C>G	CA2125023	DES	c.109C>G (p.Arg37Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418571C>T	CA2125022	DES	c.109C>T (p.Arg37Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418572G>A	CA350682943	DES	c.110G>A (p.Arg37Gln)
2	g.219418572G>C	CA350682945	DES	c.110G>C (p.Arg37Pro)
2	g.219418572G=	CA1329209862	DES	c.110G= (p.Arg37=)
2	g.219418572G>T	CA350682944	DES	c.110G>T (p.Arg37Leu)	ClinVar dbSNP gnomAD v4
2	g.219418574del	CA2573135505	DES	c.112del (p.Ala38ArgfsTer12)	ClinVar dbSNP gnomAD v4
2	g.219418573G>A	CA2125024	DES	c.111G>A (p.Arg37=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418573G>C	CA431427477	DES	c.111G>C (p.Arg37=)	dbSNP
2	g.219418573G=	CA1329209863	DES	c.111G= (p.Arg37=)
2	g.219418573G>T	CA431427479	DES	c.111G>T (p.Arg37=)	gnomAD v4
2	g.219418574G>A	CA2125025	DES	c.112G>A (p.Ala38Thr)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418574G>C	CA350682963	DES	c.112G>C (p.Ala38Pro)
2	g.219418574G=	CA1329209864	DES	c.112G= (p.Ala38=)
2	g.219418574G>T	CA350682964	DES	c.112G>T (p.Ala38Ser)	gnomAD v4
2	g.219418575C>A	CA2125026	DES	c.113C>A (p.Ala38Glu)	dbSNP ExAC gnomAD v4
2	g.219418575C=	CA1329209865	DES	c.113C= (p.Ala38=)
2	g.219418575C>G	CA350682968	DES	c.113C>G (p.Ala38Gly)
2	g.219418575C>T	CA350682975	DES	c.113C>T (p.Ala38Val)	gnomAD v4
2	g.219418576G>A	CA233898	DES	c.114G>A (p.Ala38=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418576G>C	CA431427481	DES	c.114G>C (p.Ala38=)	gnomAD v4
2	g.219418576G=	CA1329209866	DES	c.114G= (p.Ala38=)
2	g.219418576G>T	CA133814	DES	c.114G>T (p.Ala38=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418577G>A	CA2125027	DES	c.115G>A (p.Gly39Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418577G>C	CA350682986	DES	c.115G>C (p.Gly39Arg)
2	g.219418577G=	CA1329209867	DES	c.115G= (p.Gly39=)
2	g.219418577G>T	CA350682989	DES	c.115G>T (p.Gly39Cys)	gnomAD v4
2	g.219418578G>A	CA2125028	DES	c.116G>A (p.Gly39Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418578G>C	CA350682993	DES	c.116G>C (p.Gly39Ala)	dbSNP
2	g.219418578G=	CA1329209868	DES	c.116G= (p.Gly39=)
2	g.219418578G>T	CA350682996	DES	c.116G>T (p.Gly39Val)
2	g.219418579T>A	CA431427486	DES	c.117T>A (p.Gly39=)
2	g.219418579T>C	CA431427485	DES	c.117T>C (p.Gly39=)	dbSNP
2	g.219418579T>G	CA65980740	DES	c.117T>G (p.Gly39=)	ClinVar dbSNP gnomAD v4
2	g.219418579T=	CA1329209869	DES	c.117T= (p.Gly39=)
2	g.219418581dup	CA2740096471	DES	c.119dup (p.Gly41ArgfsTer3)	ClinVar
2	g.219418580T>A	CA350683009	DES	c.118T>A (p.Phe40Ile)
2	g.219418580T>C	CA350683012	DES	c.118T>C (p.Phe40Leu)	gnomAD v4
2	g.219418580T>G	CA350683017	DES	c.118T>G (p.Phe40Val)
2	g.219418581T>A	CA350683023	DES	c.119T>A (p.Phe40Tyr)
2	g.219418581T>C	CA350683030	DES	c.119T>C (p.Phe40Ser)	ClinVar
2	g.219418581T>G	CA350683032	DES	c.119T>G (p.Phe40Cys)	gnomAD v4
2	g.219418582C>A	CA350683044	DES	c.120C>A (p.Phe40Leu)
2	g.219418582C=	CA1329209870	DES	c.120C= (p.Phe40=)
2	g.219418582C>G	CA350683046	DES	c.120C>G (p.Phe40Leu)
2	g.219418582C>T	CA431427491	DES	c.120C>T (p.Phe40=)	ClinVar dbSNP gnomAD v4
2	g.219418583G>A	CA2125029	DES	c.121G>A (p.Gly41Ser)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418583G>C	CA350683078	DES	c.121G>C (p.Gly41Arg)
2	g.219418583G=	CA1329209871	DES	c.121G= (p.Gly41=)
2	g.219418583G>T	CA350683080	DES	c.121G>T (p.Gly41Cys)	gnomAD v4
2	g.219418584del	CA2663249032	DES	c.122del (p.Gly41AlafsTer9)	gnomAD v4
2	g.219418584G>A	CA350683093	DES	c.122G>A (p.Gly41Asp)	gnomAD v4
2	g.219418584G>C	CA350683104	DES	c.122G>C (p.Gly41Ala)
2	g.219418584G>T	CA350683086	DES	c.122G>T (p.Gly41Val)	gnomAD v4 COSMIC
2	g.219418585C>A	CA431427492	DES	c.123C>A (p.Gly41=)
2	g.219418585C=	CA1329209872	DES	c.123C= (p.Gly41=)
2	g.219418585C>G	CA431427493	DES	c.123C>G (p.Gly41=)
2	g.219418585C>T	CA431427494	DES	c.123C>T (p.Gly41=)	ClinVar dbSNP gnomAD v4
2	g.219418586T>A	CA350683108	DES	c.124T>A (p.Ser42Thr)	dbSNP
2	g.219418586T>C	CA350683112	DES	c.124T>C (p.Ser42Pro)	gnomAD v4
2	g.219418586T>G	CA350683111	DES	c.124T>G (p.Ser42Ala)
2	g.219418586T=	CA1329209873	DES	c.124T= (p.Ser42=)
2	g.219418587C>A	CA65980741	DES	c.125C>A (p.Ser42Tyr)	dbSNP gnomAD v4 COSMIC
2	g.219418587C=	CA1329209874	DES	c.125C= (p.Ser42=)
2	g.219418587C>G	CA350683123	DES	c.125C>G (p.Ser42Cys)
2	g.219418587C>T	CA350683119	DES	c.125C>T (p.Ser42Phe)	gnomAD v4
2	g.219418588T>A	CA431427500	DES	c.126T>A (p.Ser42=)
2	g.219418588T>C	CA431427501	DES	c.126T>C (p.Ser42=)	dbSNP gnomAD v4
2	g.219418588T>G	CA431427502	DES	c.126T>G (p.Ser42=)
2	g.219418588T=	CA1329209875	DES	c.126T= (p.Ser42=)
2	g.219418589A=	CA1329209876	DES	c.127A= (p.Lys43=)
2	g.219418589A>C	CA350683128	DES	c.127A>C (p.Lys43Gln)
2	g.219418589A>G	CA133823	DES	c.127A>G (p.Lys43Glu)	ClinVar dbSNP
2	g.219418589A>T	CA350683130	DES	c.127A>T (p.Lys43Ter)
2	g.219418590dup	CA2843661236	DES	c.128dup (p.Ser45LeufsTer?)
2	g.219418590del	CA2663249055	DES	c.128del (p.Lys43ArgfsTer7)	gnomAD v4
2	g.219418590A>C	CA350683135	DES	c.128A>C (p.Lys43Thr)
2	g.219418590A>G	CA350683137	DES	c.128A>G (p.Lys43Arg)	gnomAD v4
2	g.219418590A>T	CA350683136	DES	c.128A>T (p.Lys43Met)
2	g.219418591G>A	CA431427504	DES	c.129G>A (p.Lys43=)
2	g.219418591G>C	CA350683138	DES	c.129G>C (p.Lys43Asn)
2	g.219418591G>T	CA350683142	DES	c.129G>T (p.Lys43Asn)	gnomAD v4
2	g.219418592G>A	CA16617477	DES	c.130G>A (p.Gly44Ser)	ClinVar dbSNP gnomAD v4
2	g.219418592G>C	CA350683162	DES	c.130G>C (p.Gly44Arg)
2	g.219418592G=	CA1329209877	DES	c.130G= (p.Gly44=)
2	g.219418592G>T	CA350683170	DES	c.130G>T (p.Gly44Cys)	gnomAD v4
2	g.219418593G>A	CA350683178	DES	c.131G>A (p.Gly44Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.219418593G>C	CA350683184	DES	c.131G>C (p.Gly44Ala)
2	g.219418593G=	CA1329209878	DES	c.131G= (p.Gly44=)
2	g.219418593G>T	CA350683193	DES	c.131G>T (p.Gly44Val)	ClinVar dbSNP gnomAD v4
2	g.219418594C>A	CA2125031	DES	c.132C>A (p.Gly44=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418594C=	CA1329209879	DES	c.132C= (p.Gly44=)
2	g.219418594C>G	CA431427506	DES	c.132C>G (p.Gly44=)
2	g.219418594C>T	CA2125030	DES	c.132C>T (p.Gly44=)	dbSNP ExAC gnomAD v2
2	g.219418595T>A	CA350683210	DES	c.133T>A (p.Ser45Thr)
2	g.219418595T>C	CA350683201	DES	c.133T>C (p.Ser45Pro)
2	g.219418595T>G	CA350683203	DES	c.133T>G (p.Ser45Ala)
2	g.219418596C>A	CA350683216	DES	c.134C>A (p.Ser45Tyr)	gnomAD v4
2	g.219418596C=	CA1329209880	DES	c.134C= (p.Ser45=)
2	g.219418596C>G	CA350683219	DES	c.134C>G (p.Ser45Cys)
2	g.219418596C>T	CA350683243	DES	c.134C>T (p.Ser45Phe)	dbSNP
2	g.219418597C>A	CA431427509	DES	c.135C>A (p.Ser45=)
2	g.219418597C=	CA1329209881	DES	c.135C= (p.Ser45=)
2	g.219418597C>G	CA431427510	DES	c.135C>G (p.Ser45=)	gnomAD v4
2	g.219418597C>T	CA431427512	DES	c.135C>T (p.Ser45=)	dbSNP gnomAD v4
2	g.219418598T>A	CA350683250	DES	c.136T>A (p.Ser46Thr)
2	g.219418598T>C	CA350683255	DES	c.136T>C (p.Ser46Pro)
2	g.219418598T>G	CA350683259	DES	c.136T>G (p.Ser46Ala)
2	g.219418599C>A	CA217053	DES	c.137C>A (p.Ser46Tyr)	ClinVar dbSNP gnomAD v4
2	g.219418599C=	CA1329209882	DES	c.137C= (p.Ser46=)
2	g.219418599C>G	CA350683275	DES	c.137C>G (p.Ser46Cys)	dbSNP gnomAD v4
2	g.219418599C>T	CA217055	DES	c.137C>T (p.Ser46Phe)	ClinVar dbSNP
2	g.219418600C>A	CA431427515	DES	c.138C>A (p.Ser46=)	ClinVar gnomAD v4
2	g.219418600C=	CA1329209883	DES	c.138C= (p.Ser46=)
2	g.219418600C>G	CA431427517	DES	c.138C>G (p.Ser46=)	dbSNP
2	g.219418600C>T	CA431427519	DES	c.138C>T (p.Ser46=)
2	g.219418601A=	CA1329209884	DES	c.139A= (p.Ser47=)
2	g.219418601A>C	CA350683288	DES	c.139A>C (p.Ser47Arg)
2	g.219418601A>G	CA65980788	DES	c.139A>G (p.Ser47Gly)	dbSNP
2	g.219418601A>T	CA350683283	DES	c.139A>T (p.Ser47Cys)
2	g.219418602G>A	CA350683303	DES	c.140G>A (p.Ser47Asn)
2	g.219418602G>C	CA350683309	DES	c.140G>C (p.Ser47Thr)
2	g.219418602G>T	CA350683312	DES	c.140G>T (p.Ser47Ile)	ClinVar dbSNP
2	g.219418603C>A	CA2125032	DES	c.141C>A (p.Ser47Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418603C=	CA1329209885	DES	c.141C= (p.Ser47=)
2	g.219418603C>G	CA350683339	DES	c.141C>G (p.Ser47Arg)
2	g.219418603C>T	CA431427524	DES	c.141C>T (p.Ser47=)
2	g.219418604T>A	CA350683344	DES	c.142T>A (p.Ser48Thr)
2	g.219418604T>C	CA350683347	DES	c.142T>C (p.Ser48Pro)
2	g.219418604T>G	CA350683348	DES	c.142T>G (p.Ser48Ala)
2	g.219418604_219418608del	CA2663249089	DES	c.142_146del (p.Ser48AspfsTer?)	gnomAD v4
2	g.219418605C>A	CA350683352	DES	c.143C>A (p.Ser48Ter)	gnomAD v4
2	g.219418605C>G	CA350683353	DES	c.143C>G (p.Ser48Trp)
2	g.219418605C>T	CA350683357	DES	c.143C>T (p.Ser48Leu)	gnomAD v4
2	g.219418606G>A	CA431427528	DES	c.144G>A (p.Ser48=)	ClinVar dbSNP gnomAD v4
2	g.219418606G>C	CA431427530	DES	c.144G>C (p.Ser48=)
2	g.219418606G=	CA1329209886	DES	c.144G= (p.Ser48=)
2	g.219418606G>T	CA431427531	DES	c.144G>T (p.Ser48=)	gnomAD v4
2	g.219418607G>A	CA350683367	DES	c.145G>A (p.Val49Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219418607G>C	CA350683360	DES	c.145G>C (p.Val49Leu)
2	g.219418607G=	CA1329209887	DES	c.145G= (p.Val49=)
2	g.219418607G>T	CA350683362	DES	c.145G>T (p.Val49Leu)
2	g.219418608T>A	CA350683373	DES	c.146T>A (p.Val49Glu)
2	g.219418608T>C	CA308287	DES	c.146T>C (p.Val49Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418608T>G	CA350683393	DES	c.146T>G (p.Val49Gly)
2	g.219418608T=	CA1329209888	DES	c.146T= (p.Val49=)
2	g.219418609G>A	CA431427534	DES	c.147G>A (p.Val49=)
2	g.219418609G>C	CA431427537	DES	c.147G>C (p.Val49=)	gnomAD v4
2	g.219418609G>T	CA431427536	DES	c.147G>T (p.Val49=)

Number of alleles fetched