Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.2171685C>A	CA379112729	TH	c.90+12G>T (n.90+12G>T) c.102G>T (p.Gln34His)
11	g.2171685C=	CA1948011916	TH	c.90+12G= (n.90+12G=) c.102G= (p.Gln34=)
11	g.2171685C>G	CA379112730	TH	c.90+12G>C (n.90+12G>C) c.102G>C (p.Gln34His)	gnomAD v4
11	g.2171685C>T	CA472019100	TH	c.90+12G>A (n.90+12G>A) c.102G>A (p.Gln34=)	dbSNP gnomAD v4
11	g.2171686T>A	CA379112731	TH	c.90+11A>T (n.90+11A>T) c.101A>T (p.Gln34Leu)
11	g.2171686T>C	CA379112732	TH	c.90+11A>G (n.90+11A>G) c.101A>G (p.Gln34Arg)	gnomAD v4
11	g.2171686T>G	CA379112733	TH	c.90+11A>C (n.90+11A>C) c.101A>C (p.Gln34Pro)
11	g.2171687G>A	CA379112734	TH	c.90+10C>T (n.90+10C>T) c.100C>T (p.Gln34Ter)	ClinVar dbSNP gnomAD v4
11	g.2171687G>C	CA379112735	TH	c.90+10C>G (n.90+10C>G) c.100C>G (p.Gln34Glu)
11	g.2171687G=	CA1948011918	TH	c.90+10C= (n.90+10C=) c.100C= (p.Gln34=)
11	g.2171687G>T	CA379112736	TH	c.90+10C>A (n.90+10C>A) c.100C>A (p.Gln34Lys)
11	g.2171687dup	CA912971950	TH	c.90+10dup (n.90+10dup) c.100dup (p.Gln34ProfsTer13) c.100dup (p.Gln34ProfsTer?)
11	g.2171688C>A	CA5818864	TH	c.90+9G>T (n.90+9G>T) c.99G>T (p.Gly33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171688C=	CA1948011923	TH	c.90+9G= (n.90+9G=) c.99G= (p.Gly33=)
11	g.2171688C>G	CA472019102	TH	c.90+9G>C (n.90+9G>C) c.99G>C (p.Gly33=)
11	g.2171688C>T	CA472019103	TH	c.90+9G>A (n.90+9G>A) c.99G>A (p.Gly33=)	ClinVar
11	g.2171690dup	CA5818863	TH	c.90+9dup (n.90+9dup) c.99dup (p.Gln34AlafsTer13) c.99dup (p.Gln34AlafsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171689C>A	CA379112737	TH	c.90+8G>T (n.90+8G>T) c.98G>T (p.Gly33Val)
11	g.2171689C>G	CA379112738	TH	c.90+8G>C (n.90+8G>C) c.98G>C (p.Gly33Ala)
11	g.2171689C>T	CA379112739	TH	c.90+8G>A (n.90+8G>A) c.98G>A (p.Gly33Glu)	gnomAD v4
11	g.2171690C>A	CA5818865	TH	c.90+7G>T (n.90+7G>T) c.97G>T (p.Gly33Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171690C=	CA1948011928	TH	c.90+7G= (n.90+7G=) c.97G= (p.Gly33=)
11	g.2171690C>G	CA379112740	TH	c.90+7G>C (n.90+7G>C) c.97G>C (p.Gly33Arg)	gnomAD v4
11	g.2171690C>T	CA5818866	TH	c.90+7G>A (n.90+7G>A) c.97G>A (p.Gly33Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171691T>A	CA379112741	TH	c.90+6A>T (n.90+6A>T) c.96A>T (p.Arg32Ser)	dbSNP gnomAD v4
11	g.2171691T>C	CA472019104	TH	c.90+6A>G (n.90+6A>G) c.96A>G (p.Arg32=)	dbSNP
11	g.2171691T>G	CA379112742	TH	c.90+6A>C (n.90+6A>C) c.96A>C (p.Arg32Ser)
11	g.2171691T=	CA1948011932	TH	c.90+6A= (n.90+6A=) c.96A= (p.Arg32=)
11	g.2171692C>A	CA379112743	TH	c.90+5G>T (n.90+5G>T) c.95G>T (p.Arg32Ile)
11	g.2171692C=	CA1948011935	TH	c.90+5G= (n.90+5G=) c.95G= (p.Arg32=)
11	g.2171692C>G	CA379112744	TH	c.90+5G>C (n.90+5G>C) c.95G>C (p.Arg32Thr)
11	g.2171692C>T	CA379112745	TH	c.90+5G>A (n.90+5G>A) c.95G>A (p.Arg32Lys)	dbSNP gnomAD v2 gnomAD v4
11	g.2171693T>A	CA379112746	TH	c.90+4A>T (n.90+4A>T) c.94A>T (p.Arg32Ter)
11	g.2171693T>C	CA379112747	TH	c.90+4A>G (n.90+4A>G) c.94A>G (p.Arg32Gly)
11	g.2171693T>G	CA472019105	TH	c.90+4A>C (n.90+4A>C) c.94A>C (p.Arg32=)
11	g.2171693T=	CA1948011939	TH	c.90+4A= (n.90+4A=) c.94A= (p.Arg32=)
11	g.2171694dup	CA912971951	TH	c.90+4dup (n.90+4dup) c.94dup (p.Arg32LysfsTer15) c.94dup (p.Arg32LysfsTer?)
11	g.2171694T>A	CA472019106	TH	c.90+3A>T (n.90+3A>T) c.93A>T (p.Val31=)
11	g.2171694T>C	CA472019107	TH	c.90+3A>G (n.90+3A>G) c.93A>G (p.Val31=)
11	g.2171694T>G	CA472019108	TH	c.90+3A>C (n.90+3A>C) c.93A>C (p.Val31=)
11	g.2171694_2171695dup	CA658821342	TH	c.90+2_90+3dup (n.90+2_90+3dup) c.92_93dup (p.Arg32Ter)	ClinVar dbSNP
11	g.2171695A>C	CA379112750	TH	c.90+2T>G (n.90+2T>G) c.92T>G (p.Val31Gly)
11	g.2171695A>G	CA379112749	TH	c.90+2T>C (n.90+2T>C) c.92T>C (p.Val31Ala)
11	g.2171695A>T	CA379112748	TH	c.90+2T>A (n.90+2T>A) c.92T>A (p.Val31Glu)
11	g.2171696C>A	CA379112751	TH	c.90+1G>T (n.90+1G>T) c.91G>T (p.Val31Leu)	ClinVar dbSNP
11	g.2171696C=	CA1948011946	TH	c.90+1G= (n.90+1G=) c.91G= (p.Val31=)
11	g.2171696C>G	CA379112752	TH	c.90+1G>C (n.90+1G>C) c.91G>C (p.Val31Leu)	gnomAD v4
11	g.2171696C>T	CA379112753	TH	c.90+1G>A (n.90+1G>A) c.91G>A (p.Val31Ile)	COSMIC
11	g.2171697C>A	CA379112754	TH	c.90G>T (p.Met30Ile)
11	g.2171697C=	CA1948011952	TH	c.90G= (p.Met30=)
11	g.2171697C>G	CA379112755	TH	c.90G>C (p.Met30Ile)
11	g.2171697C>T	CA5818867	TH	c.90G>A (p.Met30Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171698A>C	CA379112756	TH	c.89T>G (p.Met30Arg)
11	g.2171698A>G	CA379112758	TH	c.89T>C (p.Met30Thr)	gnomAD v4
11	g.2171698A>T	CA379112757	TH	c.89T>A (p.Met30Lys)
11	g.2171699T>A	CA379112759	TH	c.88A>T (p.Met30Leu)
11	g.2171699T>C	CA379112760	TH	c.88A>G (p.Met30Val)	dbSNP gnomAD v2 gnomAD v4
11	g.2171699T>G	CA379112761	TH	c.88A>C (p.Met30Leu)
11	g.2171699T=	CA1948011955	TH	c.88A= (p.Met30=)
11	g.2171700G>A	CA472019109	TH	c.87C>T (p.Ile29=)
11	g.2171700G>C	CA379112762	TH	c.87C>G (p.Ile29Met)	dbSNP gnomAD v4
11	g.2171700G=	CA1948011957	TH	c.87C= (p.Ile29=)
11	g.2171700G>T	CA472019110	TH	c.87C>A (p.Ile29=)	gnomAD v4
11	g.2171701A>C	CA379112763	TH	c.86T>G (p.Ile29Ser)
11	g.2171701A>G	CA379112764	TH	c.86T>C (p.Ile29Thr)
11	g.2171701A>T	CA379112765	TH	c.86T>A (p.Ile29Asn)
11	g.2171702T>A	CA379112766	TH	c.85A>T (p.Ile29Phe)
11	g.2171702T>C	CA5818868	TH	c.85A>G (p.Ile29Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171702T>G	CA379112767	TH	c.85A>C (p.Ile29Leu)
11	g.2171702T=	CA1948011962	TH	c.85A= (p.Ile29=)
11	g.2171703G>A	CA472019111	TH	c.84C>T (p.Ala28=)	gnomAD v4
11	g.2171703G>C	CA472019113	TH	c.84C>G (p.Ala28=)
11	g.2171703G>T	CA472019112	TH	c.84C>A (p.Ala28=)
11	g.2171704G>A	CA379112770	TH	c.83C>T (p.Ala28Val)
11	g.2171704G>C	CA379112769	TH	c.83C>G (p.Ala28Gly)
11	g.2171704G=	CA1948011966	TH	c.83C= (p.Ala28=)
11	g.2171704G>T	CA379112768	TH	c.83C>A (p.Ala28Asp)	dbSNP gnomAD v3 gnomAD v4
11	g.2171705C>A	CA379112771	TH	c.82G>T (p.Ala28Ser)
11	g.2171705C=	CA1948011970	TH	c.82G= (p.Ala28=)
11	g.2171705C>G	CA379112772	TH	c.82G>C (p.Ala28Pro)	ClinVar
11	g.2171705C>T	CA5818869	TH	c.82G>A (p.Ala28Thr)	dbSNP ExAC gnomAD v2
11	g.2171706C>A	CA5818870	TH	c.81G>T (p.Glu27Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171706C=	CA1948011983	TH	c.81G= (p.Glu27=)
11	g.2171706C>G	CA379112773	TH	c.81G>C (p.Glu27Asp)
11	g.2171706C>T	CA5818871	TH	c.81G>A (p.Glu27=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171707T>A	CA379112774	TH	c.80A>T (p.Glu27Val)
11	g.2171707T>C	CA379112775	TH	c.80A>G (p.Glu27Gly)
11	g.2171707T>G	CA379112776	TH	c.80A>C (p.Glu27Ala)	gnomAD v4
11	g.2171708C>A	CA379112777	TH	c.79G>T (p.Glu27Ter)
11	g.2171708C>G	CA379112778	TH	c.79G>C (p.Glu27Gln)
11	g.2171708C>T	CA379112779	TH	c.79G>A (p.Glu27Lys)
11	g.2171708_2171709delinsCT	CA1948011995	TH	c.78_79delinsAG (p.Ala26=)
11	g.2171709del	CA1139661749	TH	c.78del (p.Glu27ArgfsTer?) c.78del (p.Glu27ArgfsTer5)	ClinVar dbSNP
11	g.2171709T>A	CA472019115	TH	c.78A>T (p.Ala26=)
11	g.2171709T>C	CA472019116	TH	c.78A>G (p.Ala26=)	ClinVar dbSNP gnomAD v4
11	g.2171709T>G	CA472019117	TH	c.78A>C (p.Ala26=)
11	g.2171710G>A	CA379112781	TH	c.77C>T (p.Ala26Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171710G>C	CA379112782	TH	c.77C>G (p.Ala26Gly)
11	g.2171710G=	CA1948012001	TH	c.77C= (p.Ala26=)
11	g.2171710G>T	CA379112780	TH	c.77C>A (p.Ala26Glu)
11	g.2171711C>A	CA379112783	TH	c.76G>T (p.Ala26Ser)
11	g.2171711C>G	CA379112784	TH	c.76G>C (p.Ala26Pro)
11	g.2171711C>T	CA379112785	TH	c.76G>A (p.Ala26Thr)
11	g.2171712C>A	CA379112786	TH	c.75G>T (p.Gln25His)
11	g.2171712C>G	CA379112787	TH	c.75G>C (p.Gln25His)	gnomAD v4
11	g.2171712C>T	CA472019118	TH	c.75G>A (p.Gln25=)	ClinVar dbSNP gnomAD v4
11	g.2171713T>A	CA379112790	TH	c.74A>T (p.Gln25Leu)	gnomAD v4
11	g.2171713T>C	CA379112788	TH	c.74A>G (p.Gln25Arg)
11	g.2171713T>G	CA379112789	TH	c.74A>C (p.Gln25Pro)	gnomAD v4
11	g.2171714G>A	CA379112791	TH	c.73C>T (p.Gln25Ter)	dbSNP
11	g.2171714G>C	CA379112792	TH	c.73C>G (p.Gln25Glu)
11	g.2171714G=	CA1948012006	TH	c.73C= (p.Gln25=)
11	g.2171714G>T	CA379112793	TH	c.73C>A (p.Gln25Lys)	gnomAD v4
11	g.2171715C>A	CA379112794	TH	c.72G>T (p.Lys24Asn)
11	g.2171715C>G	CA379112795	TH	c.72G>C (p.Lys24Asn)
11	g.2171715C>T	CA472019119	TH	c.72G>A (p.Lys24=)	COSMIC
11	g.2171716T>A	CA379112796	TH	c.71A>T (p.Lys24Met)
11	g.2171716T>C	CA5818872	TH	c.71A>G (p.Lys24Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171716T>G	CA379112797	TH	c.71A>C (p.Lys24Thr)
11	g.2171716T=	CA1948012013	TH	c.71A= (p.Lys24=)
11	g.2171717T>A	CA379112798	TH	c.70A>T (p.Lys24Ter)
11	g.2171717T>C	CA379112800	TH	c.70A>G (p.Lys24Glu)
11	g.2171717T>G	CA379112799	TH	c.70A>C (p.Lys24Gln)
11	g.2171718G>A	CA472019122	TH	c.69C>T (p.Ala23=)	ClinVar dbSNP
11	g.2171718G>C	CA472019120	TH	c.69C>G (p.Ala23=)
11	g.2171718G>T	CA472019121	TH	c.69C>A (p.Ala23=)
11	g.2171719G>A	CA379112801	TH	c.68C>T (p.Ala23Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171719G>C	CA379112803	TH	c.68C>G (p.Ala23Gly)
11	g.2171719G=	CA1948012017	TH	c.68C= (p.Ala23=)
11	g.2171719G>T	CA379112802	TH	c.68C>A (p.Ala23Asp)
11	g.2171720C>A	CA379112804	TH	c.67G>T (p.Ala23Ser)
11	g.2171720C=	CA1948012026	TH	c.67G= (p.Ala23=)
11	g.2171720C>G	CA379112805	TH	c.67G>C (p.Ala23Pro)
11	g.2171720C>T	CA5818873	TH	c.67G>A (p.Ala23Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171721G>A	CA5818874	TH	c.66C>T (p.Asp22=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171721G>C	CA379112806	TH	c.66C>G (p.Asp22Glu)
11	g.2171721G=	CA1948012032	TH	c.66C= (p.Asp22=)
11	g.2171721G>T	CA379112807	TH	c.66C>A (p.Asp22Glu)	gnomAD v4
11	g.2171722T>A	CA379112808	TH	c.65A>T (p.Asp22Val)
11	g.2171722T>C	CA379112809	TH	c.65A>G (p.Asp22Gly)
11	g.2171722T>G	CA379112810	TH	c.65A>C (p.Asp22Ala)
11	g.2171723C>A	CA379112811	TH	c.64G>T (p.Asp22Tyr)	gnomAD v4
11	g.2171723C>G	CA379112812	TH	c.64G>C (p.Asp22His)
11	g.2171723C>T	CA379112813	TH	c.64G>A (p.Asp22Asn)
11	g.2171724C>A	CA472019123	TH	c.63G>T (p.Leu21=)
11	g.2171724C>G	CA472019124	TH	c.63G>C (p.Leu21=)
11	g.2171724C>T	CA472019125	TH	c.63G>A (p.Leu21=)	ClinVar dbSNP gnomAD v4 COSMIC
11	g.2171725A>C	CA379112814	TH	c.62T>G (p.Leu21Arg)
11	g.2171725A>G	CA379112816	TH	c.62T>C (p.Leu21Pro)
11	g.2171725A>T	CA379112815	TH	c.62T>A (p.Leu21Gln)
11	g.2171726G>A	CA472019126	TH	c.61C>T (p.Leu21=)	gnomAD v4
11	g.2171726G>C	CA379112817	TH	c.61C>G (p.Leu21Val)	gnomAD v4
11	g.2171726G>T	CA379112818	TH	c.61C>A (p.Leu21Met)
11	g.2171727C>A	CA379112819	TH	c.60G>T (p.Glu20Asp)	gnomAD v4
11	g.2171727C=	CA1948012038	TH	c.60G= (p.Glu20=)
11	g.2171727C>G	CA379112820	TH	c.60G>C (p.Glu20Asp)	dbSNP gnomAD v3 gnomAD v4
11	g.2171727C>T	CA472019127	TH	c.60G>A (p.Glu20=)
11	g.2171728T>A	CA379112821	TH	c.59A>T (p.Glu20Val)
11	g.2171728T>C	CA379112822	TH	c.59A>G (p.Glu20Gly)
11	g.2171728T>G	CA379112823	TH	c.59A>C (p.Glu20Ala)
11	g.2171729C>A	CA379112824	TH	c.58G>T (p.Glu20Ter)
11	g.2171729C>G	CA379112825	TH	c.58G>C (p.Glu20Gln)	COSMIC
11	g.2171729C>T	CA379112826	TH	c.58G>A (p.Glu20Lys)	ClinVar dbSNP gnomAD v4
11	g.2171730A>C	CA472019132	TH	c.57T>G (p.Ser19=)
11	g.2171730A>G	CA472019128	TH	c.57T>C (p.Ser19=)	ClinVar
11	g.2171730A>T	CA472019129	TH	c.57T>A (p.Ser19=)
11	g.2171730_2171741del	CA472019130	TH	c.46_57del (p.Arg16_Ser19del)
11	g.2171731G>A	CA216229987	TH	c.56C>T (p.Ser19Phe)	dbSNP gnomAD v4
11	g.2171731G>C	CA5818875	TH	c.56C>G (p.Ser19Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171731G=	CA1948012043	TH	c.56C= (p.Ser19=)
11	g.2171731G>T	CA379112827	TH	c.56C>A (p.Ser19Tyr)
11	g.2171732A>C	CA379112828	TH	c.55T>G (p.Ser19Ala)
11	g.2171732A>G	CA379112829	TH	c.55T>C (p.Ser19Pro)
11	g.2171732A>T	CA379112830	TH	c.55T>A (p.Ser19Thr)
11	g.2171733C>A	CA472019133	TH	c.54G>T (p.Val18=)
11	g.2171733C>G	CA472019134	TH	c.54G>C (p.Val18=)
11	g.2171733C>T	CA472019135	TH	c.54G>A (p.Val18=)
11	g.2171734A>C	CA379112831	TH	c.53T>G (p.Val18Gly)	gnomAD v4
11	g.2171734A>G	CA379112832	TH	c.53T>C (p.Val18Ala)	gnomAD v4
11	g.2171734A>T	CA379112833	TH	c.53T>A (p.Val18Glu)
11	g.2171735C>A	CA379112834	TH	c.52G>T (p.Val18Leu)
11	g.2171735C=	CA1948012048	TH	c.52G= (p.Val18=)
11	g.2171735C>G	CA379112835	TH	c.52G>C (p.Val18Leu)	gnomAD v4
11	g.2171735C>T	CA5818876	TH	c.52G>A (p.Val18Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.2171736G>A	CA5818877	TH	c.51C>T (p.Ala17=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171736G>C	CA472019136	TH	c.51C>G (p.Ala17=)	ClinVar dbSNP
11	g.2171736G=	CA1948012053	TH	c.51C= (p.Ala17=)
11	g.2171736G>T	CA472019137	TH	c.51C>A (p.Ala17=)
11	g.2171737del	CA2580082717	TH	c.51del (p.Val18CysfsTer?) c.51del (p.Val18CysfsTer14)	ClinVar
11	g.2171737G>A	CA379112836	TH	c.50C>T (p.Ala17Val)	gnomAD v4
11	g.2171737G>C	CA379112837	TH	c.50C>G (p.Ala17Gly)
11	g.2171737G>T	CA379112838	TH	c.50C>A (p.Ala17Asp)	ClinVar dbSNP
11	g.2171738C>A	CA379112841	TH	c.49G>T (p.Ala17Ser)
11	g.2171738C=	CA1948012055	TH	c.49G= (p.Ala17=)
11	g.2171738C>G	CA379112840	TH	c.49G>C (p.Ala17Pro)	dbSNP
11	g.2171738C>T	CA379112839	TH	c.49G>A (p.Ala17Thr)	dbSNP gnomAD v3 gnomAD v4
11	g.2171739C>A	CA379112842	TH	c.48G>T (p.Arg16Ser)
11	g.2171739C>G	CA379112843	TH	c.48G>C (p.Arg16Ser)
11	g.2171739C>T	CA472019139	TH	c.48G>A (p.Arg16=)
11	g.2171740C>A	CA379112844	TH	c.47G>T (p.Arg16Met)
11	g.2171740C=	CA1948012058	TH	c.47G= (p.Arg16=)
11	g.2171740C>G	CA5818878	TH	c.47G>C (p.Arg16Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171740C>T	CA379112845	TH	c.47G>A (p.Arg16Lys)
11	g.2171741T>A	CA5818879	TH	c.46A>T (p.Arg16Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171741T>C	CA379112846	TH	c.46A>G (p.Arg16Gly)	ClinVar
11	g.2171741T>G	CA472019140	TH	c.46A>C (p.Arg16=)
11	g.2171741T=	CA1948012060	TH	c.46A= (p.Arg16=)
11	g.2171742G>A	CA472019141	TH	c.45C>T (p.Arg15=)	ClinVar
11	g.2171742G>C	CA472019142	TH	c.45C>G (p.Arg15=)
11	g.2171742G>T	CA472019143	TH	c.45C>A (p.Arg15=)
11	g.2171743_2171775del	CA912971952	TH	c.13_45del (p.Asp5_Arg15del)
11	g.2171743C>A	CA5818881	TH	c.44G>T (p.Arg15Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171743C=	CA1948012069	TH	c.44G= (p.Arg15=)
11	g.2171743C>G	CA379112847	TH	c.44G>C (p.Arg15Pro)	dbSNP gnomAD v3 gnomAD v4
11	g.2171743C>T	CA5818880	TH	c.44G>A (p.Arg15His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.2171743_2171775delinsCGGAAGCCCTTGGCCTGTGGCGTGGTGGCGTCG	CA1948012065	TH	c.12_44delinsCGACGCCACCACGCCACAGGCCAAGGGCTTCCG (p.Pro4=)
11	g.2171744G>A	CA5818882	TH	c.43C>T (p.Arg15Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171744G>C	CA379112848	TH	c.43C>G (p.Arg15Gly)
11	g.2171744G=	CA1948012076	TH	c.43C= (p.Arg15=)
11	g.2171744G>T	CA379112849	TH	c.43C>A (p.Arg15Ser)	dbSNP gnomAD v4 COSMIC
11	g.2171746_2171777del	CA658821343	TH	c.12_43del (p.Asp5GlnfsTer5)	ClinVar dbSNP
11	g.2171745G>A	CA472019144	TH	c.42C>T (p.Phe14=)
11	g.2171745G>C	CA379112850	TH	c.42C>G (p.Phe14Leu)	ClinVar
11	g.2171745G>T	CA379112851	TH	c.42C>A (p.Phe14Leu)	gnomAD v4
11	g.2171746A>C	CA379112852	TH	c.41T>G (p.Phe14Cys)
11	g.2171746A>G	CA379112854	TH	c.41T>C (p.Phe14Ser)
11	g.2171746A>T	CA379112853	TH	c.41T>A (p.Phe14Tyr)
11	g.2171747A>C	CA379112855	TH	c.40T>G (p.Phe14Val)
11	g.2171747A>G	CA379112856	TH	c.40T>C (p.Phe14Leu)
11	g.2171747A>T	CA379112857	TH	c.40T>A (p.Phe14Ile)
11	g.2171748G>A	CA472019145	TH	c.39C>T (p.Gly13=)	ClinVar
11	g.2171748G>C	CA472019147	TH	c.39C>G (p.Gly13=)
11	g.2171748G>T	CA472019146	TH	c.39C>A (p.Gly13=)
11	g.2171748_2171749insAA	CA472019148	TH	c.38_39insTT (p.Phe14SerfsTer?) c.38_39insTT (p.Phe14SerfsTer19)
11	g.2171749C>A	CA379112858	TH	c.38G>T (p.Gly13Val)
11	g.2171749C=	CA1948012080	TH	c.38G= (p.Gly13=)
11	g.2171749C>G	CA379112859	TH	c.38G>C (p.Gly13Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.2171749C>T	CA379112860	TH	c.38G>A (p.Gly13Asp)
11	g.2171749_2171752delinsCCCT	CA1948012082	TH	c.35_38delinsAGGG (p.Lys12=)
11	g.2171750C>A	CA379112861	TH	c.37G>T (p.Gly13Cys)
11	g.2171750C=	CA1948012088	TH	c.37G= (p.Gly13=)
11	g.2171750C>G	CA379112862	TH	c.37G>C (p.Gly13Arg)
11	g.2171750C>T	CA379112863	TH	c.37G>A (p.Gly13Ser)	dbSNP gnomAD v3 gnomAD v4
11	g.2171750_2171752del	CA472019149	TH	c.35_37del (p.Lys12_Gly13delinsSer)	dbSNP
11	g.2171751C>A	CA379112864	TH	c.36G>T (p.Lys12Asn)	dbSNP gnomAD v2 gnomAD v4
11	g.2171751C=	CA1948012091	TH	c.36G= (p.Lys12=)
11	g.2171751C>G	CA379112865	TH	c.36G>C (p.Lys12Asn)
11	g.2171751C>T	CA472019150	TH	c.36G>A (p.Lys12=)	COSMIC
11	g.2171752T>A	CA379112868	TH	c.35A>T (p.Lys12Met)	gnomAD v4
11	g.2171752T>C	CA379112866	TH	c.35A>G (p.Lys12Arg)	gnomAD v4
11	g.2171752T>G	CA379112867	TH	c.35A>C (p.Lys12Thr)	dbSNP
11	g.2171752T=	CA1948012093	TH	c.35A= (p.Lys12=)
11	g.2171753T>A	CA379112869	TH	c.34A>T (p.Lys12Ter)
11	g.2171753T>C	CA379112870	TH	c.34A>G (p.Lys12Glu)
11	g.2171753T>G	CA379112871	TH	c.34A>C (p.Lys12Gln)
11	g.2171754G>A	CA472019151	TH	c.33C>T (p.Ala11=)	gnomAD v4
11	g.2171754G>C	CA472019153	TH	c.33C>G (p.Ala11=)
11	g.2171754G>T	CA472019152	TH	c.33C>A (p.Ala11=)
11	g.2171755G>A	CA379112872	TH	c.32C>T (p.Ala11Val)	dbSNP gnomAD v2 gnomAD v4
11	g.2171755G>C	CA216230038	TH	c.32C>G (p.Ala11Gly)	ClinVar dbSNP
11	g.2171755G=	CA1948012099	TH	c.32C= (p.Ala11=)
11	g.2171755G>T	CA379112873	TH	c.32C>A (p.Ala11Asp)	ClinVar dbSNP gnomAD v4
11	g.2171756C>A	CA379112874	TH	c.31G>T (p.Ala11Ser)
11	g.2171756C=	CA1948012108	TH	c.31G= (p.Ala11=)
11	g.2171756C>G	CA379112875	TH	c.31G>C (p.Ala11Pro)
11	g.2171756C>T	CA5818883	TH	c.31G>A (p.Ala11Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171756_2171760delinsCCTGT	CA1948012106	TH	c.27_31delinsACAGG (p.Pro9=)
11	g.2171757C>A	CA379112876	TH	c.30G>T (p.Gln10His)
11	g.2171757C=	CA1948012109	TH	c.30G= (p.Gln10=)
11	g.2171757C>G	CA379112877	TH	c.30G>C (p.Gln10His)
11	g.2171757C>T	CA216230040	TH	c.30G>A (p.Gln10=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.2171757_2171760del	CA472019154	TH	c.27_30del (p.Gln10ProfsTer?) c.27_30del (p.Gln10ProfsTer21)	dbSNP
11	g.2171758T>A	CA379112879	TH	c.29A>T (p.Gln10Leu)
11	g.2171758T>C	CA379112880	TH	c.29A>G (p.Gln10Arg)	COSMIC
11	g.2171758T>G	CA379112878	TH	c.29A>C (p.Gln10Pro)
11	g.2171759G>A	CA379112881	TH	c.28C>T (p.Gln10Ter)	gnomAD v4
11	g.2171759G>C	CA379112882	TH	c.28C>G (p.Gln10Glu)
11	g.2171759G>T	CA379112883	TH	c.28C>A (p.Gln10Lys)	gnomAD v4
11	g.2171760T>A	CA472019155	TH	c.27A>T (p.Pro9=)
11	g.2171760T>C	CA472019156	TH	c.27A>G (p.Pro9=)
11	g.2171760T>G	CA472019157	TH	c.27A>C (p.Pro9=)
11	g.2171761G>A	CA216230043	TH	c.26C>T (p.Pro9Leu)	dbSNP gnomAD v3 gnomAD v4
11	g.2171761G>C	CA379112884	TH	c.26C>G (p.Pro9Arg)
11	g.2171761G=	CA1948012112	TH	c.26C= (p.Pro9=)
11	g.2171761G>T	CA379112885	TH	c.26C>A (p.Pro9Gln)
11	g.2171762G>A	CA5818884	TH	c.25C>T (p.Pro9Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171762G>C	CA379112886	TH	c.25C>G (p.Pro9Ala)
11	g.2171762G=	CA1948012114	TH	c.25C= (p.Pro9=)
11	g.2171762G>T	CA379112887	TH	c.25C>A (p.Pro9Thr)
11	g.2171763C>A	CA472019158	TH	c.24G>T (p.Thr8=)	gnomAD v4
11	g.2171763C=	CA1948012116	TH	c.24G= (p.Thr8=)
11	g.2171763C>G	CA5818886	TH	c.24G>C (p.Thr8=)	dbSNP ExAC gnomAD v2
11	g.2171763C>T	CA5818885	TH	c.24G>A (p.Thr8=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171763_2171765delinsCGT	CA1948012117	TH	c.22_24delinsACG (p.Thr8=)
11	g.2171764G>A	CA5818887	TH	c.23C>T (p.Thr8Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171764G>C	CA379112888	TH	c.23C>G (p.Thr8Arg)	gnomAD v4
11	g.2171764G=	CA1948012121	TH	c.23C= (p.Thr8=)
11	g.2171764G>T	CA5818888	TH	c.23C>A (p.Thr8Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171765_2171766del	CA918804924	TH	c.22_23del (p.Thr8AlafsTer12)	dbSNP
11	g.2171765T>A	CA379112889	TH	c.22A>T (p.Thr8Ser)
11	g.2171765T>C	CA379112891	TH	c.22A>G (p.Thr8Ala)
11	g.2171765T>G	CA379112890	TH	c.22A>C (p.Thr8Pro)
11	g.2171766G>A	CA472019161	TH	c.21C>T (p.Thr7=)
11	g.2171766G>C	CA472019159	TH	c.21C>G (p.Thr7=)
11	g.2171766G>T	CA472019160	TH	c.21C>A (p.Thr7=)	ClinVar dbSNP gnomAD v4
11	g.2171768_2171777del	CA2790190903	TH	c.12_21del (p.Asp5ArgfsTer?) c.12_21del (p.Asp5ArgfsTer24)
11	g.2171767G>A	CA379112892	TH	c.20C>T (p.Thr7Ile)	gnomAD v4
11	g.2171767G>C	CA379112893	TH	c.20C>G (p.Thr7Ser)
11	g.2171767G>T	CA379112894	TH	c.20C>A (p.Thr7Asn)	gnomAD v4
11	g.2171768T>A	CA379112895	TH	c.19A>T (p.Thr7Ser)
11	g.2171768T>C	CA379112896	TH	c.19A>G (p.Thr7Ala)	gnomAD v4
11	g.2171768T>G	CA5818889	TH	c.19A>C (p.Thr7Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171768T=	CA1948012124	TH	c.19A= (p.Thr7=)
11	g.2171769G>A	CA472019162	TH	c.18C>T (p.Ala6=)
11	g.2171769G>C	CA472019163	TH	c.18C>G (p.Ala6=)	gnomAD v4
11	g.2171769G>T	CA472019164	TH	c.18C>A (p.Ala6=)	ClinVar gnomAD v4
11	g.2171770G>A	CA379112897	TH	c.17C>T (p.Ala6Val)	dbSNP
11	g.2171770G>C	CA379112898	TH	c.17C>G (p.Ala6Gly)
11	g.2171770G=	CA1948012127	TH	c.17C= (p.Ala6=)
11	g.2171770G>T	CA379112899	TH	c.17C>A (p.Ala6Asp)	gnomAD v4
11	g.2171771C>A	CA5818891	TH	c.16G>T (p.Ala6Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171771C=	CA1948012129	TH	c.16G= (p.Ala6=)
11	g.2171771C>G	CA379112900	TH	c.16G>C (p.Ala6Pro)
11	g.2171771C>T	CA5818890	TH	c.16G>A (p.Ala6Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171772G>A	CA5818892	TH	c.15C>T (p.Asp5=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.2171772G>C	CA379112902	TH	c.15C>G (p.Asp5Glu)
11	g.2171772G=	CA1948012133	TH	c.15C= (p.Asp5=)
11	g.2171772G>T	CA379112901	TH	c.15C>A (p.Asp5Glu)	gnomAD v4
11	g.2171772dup	CA918804925	TH	c.15dup (p.Ala6ArgfsTer15)	dbSNP
11	g.2171773T>A	CA379112903	TH	c.14A>T (p.Asp5Val)
11	g.2171773T>C	CA379112905	TH	c.14A>G (p.Asp5Gly)
11	g.2171773T>G	CA379112904	TH	c.14A>C (p.Asp5Ala)
11	g.2171774C>A	CA379112906	TH	c.13G>T (p.Asp5Tyr)
11	g.2171774C=	CA1948012134	TH	c.13G= (p.Asp5=)
11	g.2171774C>G	CA379112907	TH	c.13G>C (p.Asp5His)
11	g.2171774C>T	CA5818893	TH	c.13G>A (p.Asp5Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171775G>A	CA5818894	TH	c.12C>T (p.Pro4=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171775G>C	CA472019167	TH	c.12C>G (p.Pro4=)
11	g.2171775G=	CA1948012135	TH	c.12C= (p.Pro4=)
11	g.2171775G>T	CA472019165	TH	c.12C>A (p.Pro4=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11	g.2171779dup	CA16041468	TH	c.12dup (p.Asp5ArgfsTer16)	ClinVar dbSNP gnomAD v4
11	g.2171778_2171779dup	CA2790190904	TH	c.11_12dup (p.Asp5ProfsTer?) c.11_12dup (p.Asp5ProfsTer28)
11	g.2171779del	CA472019166	TH	c.12del (p.Asp5ThrfsTer?) c.12del (p.Asp5ThrfsTer27)	gnomAD v4 COSMIC
11	g.2171775_2171776insAA	CA918804926	TH	c.11_12insTT (p.Asp5SerfsTer?) c.11_12insTT (p.Asp5SerfsTer28)	dbSNP
11	g.2171776G>A	CA379112908	TH	c.11C>T (p.Pro4Leu)	ClinVar gnomAD v4 COSMIC
11	g.2171776G>C	CA379112909	TH	c.11C>G (p.Pro4Arg)
11	g.2171776G>T	CA379112910	TH	c.11C>A (p.Pro4His)	gnomAD v4
11	g.2171777G>A	CA379112911	TH	c.10C>T (p.Pro4Ser)
11	g.2171777G>C	CA379112912	TH	c.10C>G (p.Pro4Ala)
11	g.2171777G=	CA1948012136	TH	c.10C= (p.Pro4=)
11	g.2171777G>T	CA379112913	TH	c.10C>A (p.Pro4Thr)	gnomAD v4
11	g.2171777_2171778insT	CA918804927	TH	c.9_10insA (p.Pro4ThrfsTer17)	dbSNP
11	g.2171778G>A	CA472019169	TH	c.9C>T (p.Thr3=)
11	g.2171778G>C	CA472019170	TH	c.9C>G (p.Thr3=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.2171778G=	CA1948012137	TH	c.9C= (p.Thr3=)
11	g.2171778G>T	CA472019171	TH	c.9C>A (p.Thr3=)
11	g.2171779G>A	CA379112914	TH	c.8C>T (p.Thr3Ile)	dbSNP gnomAD v2
11	g.2171779G>C	CA379112915	TH	c.8C>G (p.Thr3Ser)
11	g.2171779G=	CA1948012138	TH	c.8C= (p.Thr3=)
11	g.2171779G>T	CA379112916	TH	c.8C>A (p.Thr3Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171780T>A	CA379112917	TH	c.7A>T (p.Thr3Ser)
11	g.2171780T>C	CA379112918	TH	c.7A>G (p.Thr3Ala)
11	g.2171780T>G	CA379112919	TH	c.7A>C (p.Thr3Pro)	dbSNP
11	g.2171780T=	CA1948012139	TH	c.7A= (p.Thr3=)
11	g.2171781G>A	CA472019172	TH	c.6C>T (p.Pro2=)	ClinVar gnomAD v4
11	g.2171781G>C	CA472019174	TH	c.6C>G (p.Pro2=)
11	g.2171781G>T	CA472019175	TH	c.6C>A (p.Pro2=)	gnomAD v4
11	g.2171783del	CA2611984215	TH	c.6del (p.Thr3ProfsTer?) c.6del (p.Thr3ProfsTer29)	gnomAD v4
11	g.2171782G>A	CA5818895	TH	c.5C>T (p.Pro2Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171782G>C	CA379112921	TH	c.5C>G (p.Pro2Arg)
11	g.2171782G=	CA1948012140	TH	c.5C= (p.Pro2=)
11	g.2171782G>T	CA379112920	TH	c.5C>A (p.Pro2His)
11	g.2171783G>A	CA379112922	TH	c.4C>T (p.Pro2Ser)	gnomAD v4
11	g.2171783G>C	CA379112923	TH	c.4C>G (p.Pro2Ala)
11	g.2171783G=	CA1948012141	TH	c.4C= (p.Pro2=)
11	g.2171783G>T	CA5818896	TH	c.4C>A (p.Pro2Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171784C>A	CA379112924	TH	c.3G>T (p.Met1Ile)	gnomAD v4
11	g.2171784C>G	CA379112925	TH	c.3G>C (p.Met1Ile)
11	g.2171784C>T	CA379112926	TH	c.3G>A (p.Met1Ile)	gnomAD v4
11	g.2171785A=	CA1948012143	TH	c.2T= (p.Met1=)
11	g.2171785A>C	CA379112927	TH	c.2T>G (p.Met1Arg)
11	g.2171785A>G	CA5818897	TH	c.2T>C (p.Met1Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171785A>T	CA379112928	TH	c.2T>A (p.Met1Lys)

Number of alleles fetched