Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
11	g.2171786T>A	CA379112931	TH	c.1A>T (p.Met1Leu)
11	g.2171786T>C	CA379112930	TH	c.1A>G (p.Met1Val)
11	g.2171786T>G	CA379112929	TH	c.1A>C (p.Met1Leu)
11	g.2171786dup	CA674605062	TH	c.1dup (p.Met1AsnfsTer20)	dbSNP gnomAD v3 gnomAD v4
11	g.2171787G>T	CA2611984238	TH	c.-1C>A (n.-1C>A)	gnomAD v4
11	g.2171788G>A	CA2611984239	TH	c.-2C>T (n.-2C>T)	gnomAD v4
11	g.2171788G>T	CA2590508514	TH	c.-2C>A (n.-2C>A)	dbSNP gnomAD v3 gnomAD v4
11	g.2171789C>A	CA2611984244	TH	c.-3G>T (n.-3G>T)	gnomAD v4
11	g.2171789C=	CA1948012144	TH	c.-3G= (n.-3G=)
11	g.2171789C>G	CA2611984245	TH	c.-3G>C (n.-3G>C)	gnomAD v4
11	g.2171789C>T	CA1948012145	TH	c.-3G>A (n.-3G>A)	dbSNP
11	g.2171790T>C	CA2611984248	TH	c.-4A>G (n.-4A>G)	gnomAD v4
11	g.2171791C>A	CA2611984251	TH	c.-5G>T (n.-5G>T)	gnomAD v4
11	g.2171791C=	CA1948012146	TH	c.-5G= (n.-5G=)
11	g.2171791C>T	CA216230152	TH	c.-5G>A (n.-5G>A)	dbSNP
11	g.2171791_2171792del	CA2574757433	TH	c.-6_-5del (n.-6_-5del)	gnomAD v4
11	g.2171793G>A	CA5818898	TH	c.-7C>T (n.-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171793G=	CA1948012147	TH	c.-7C= (n.-7C=)
11	g.2171793G>T	CA2611984254	TH	c.-7C>A (n.-7C>A)	gnomAD v4
11	g.2171794T>C	CA5818899	TH	c.-8A>G (n.-8A>G)	dbSNP ExAC gnomAD v2
11	g.2171794T=	CA1948012148	TH	c.-8A= (n.-8A=)
11	g.2171795G>A	CA2611984257	TH	c.-9C>T (n.-9C>T)	gnomAD v4
11	g.2171795G>T	CA2611984258	TH	c.-9C>A (n.-9C>A)	gnomAD v4
11	g.2171796T>C	CA597089931	TH	c.-10A>G (n.-10A>G)	dbSNP gnomAD v2 gnomAD v4
11	g.2171796T>G	CA2611984261	TH	c.-10A>C (n.-10A>C)	gnomAD v4
11	g.2171796T=	CA1948012149	TH	c.-10A= (n.-10A=)
11	g.2171798del	CA2611984265	TH	c.-11del (n.-11del)	gnomAD v4
11	g.2171798G>C	CA5818900	TH	c.-12C>G (n.-12C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171798G=	CA1948012150	TH	c.-12C= (n.-12C=)
11	g.2171798G>T	CA597089934	TH	c.-12C>A (n.-12C>A)	dbSNP gnomAD v2 gnomAD v4
11	g.2171799A=	CA1948012151	TH	c.-13T= (n.-13T=)
11	g.2171799A>G	CA1948012152	TH	c.-13T>C (n.-13T>C)	dbSNP
11	g.2171800G>T	CA2611984272	TH	c.-14C>A (n.-14C>A)	gnomAD v4
11	g.2171801G>T	CA2611984276	TH	c.-15C>A (n.-15C>A)	gnomAD v4
11	g.2171802T>A	CA5818901	TH	c.-16A>T (n.-16A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171802T>G	CA1948012154	TH	c.-16A>C (n.-16A>C)	dbSNP
11	g.2171802T=	CA1948012153	TH	c.-16A= (n.-16A=)
11	g.2171804C>A	CA5818903	TH	c.-18G>T (n.-18G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171804C=	CA1948012156	TH	c.-18G= (n.-18G=)
11	g.2171804C>G	CA2611984286	TH	c.-18G>C (n.-18G>C)	gnomAD v4
11	g.2171804C>T	CA5818902	TH	c.-18G>A (n.-18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171805G>A	CA5818904	TH	c.-19C>T (n.-19C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171805G=	CA1948012160	TH	c.-19C= (n.-19C=)
11	g.2171806G>A	CA5818905	TH	c.-20C>T (n.-20C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171806G=	CA1948012162	TH	c.-20C= (n.-20C=)
11	g.2171806G>T	CA2611984295	TH	c.-20C>A (n.-20C>A)	gnomAD v4
11	g.2171807G>A	CA2611984296	TH	c.-21C>T (n.-21C>T)	gnomAD v4
11	g.2171807G>T	CA2611984298	TH	c.-21C>A (n.-21C>A)	gnomAD v4
11	g.2171808C>A	CA2611984299	TH	c.-22G>T (n.-22G>T)	gnomAD v4
11	g.2171808C>T	CA2611984301	TH	c.-22G>A (n.-22G>A)	gnomAD v4
11	g.2171808dup	CA653928694	TH	c.-22dup (n.-22dup)	COSMIC
11	g.2171809T>C	CA5818906	TH	c.-23A>G (n.-23A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171809T=	CA1948012164	TH	c.-23A= (n.-23A=)
11	g.2171811dup	CA5818907	TH	c.-24dup (n.-24dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171811C>A	CA2611984312	TH	c.-25G>T (n.-25G>T)	gnomAD v4
11	g.2171811C=	CA1948012167	TH	c.-25G= (n.-25G=)
11	g.2171811C>G	CA2611984314	TH	c.-25G>C (n.-25G>C)	gnomAD v4
11	g.2171811C>T	CA5818908	TH	c.-25G>A (n.-25G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171812G>A	CA5818909	TH	c.-26C>T (n.-26C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.2171812G=	CA1948012168	TH	c.-26C= (n.-26C=)
11	g.2171812G>T	CA2611984319	TH	c.-26C>A (n.-26C>A)	gnomAD v4
11	g.2171813T>C	CA1948012171	TH	c.-27A>G (n.-27A>G)	dbSNP gnomAD v4
11	g.2171813T=	CA1948012170	TH	c.-27A= (n.-27A=)
11	g.2171814C>A	CA2611984323	TH	c.-28G>T (n.-28G>T)	gnomAD v4
11	g.2171817C=	CA1948012172	TH	c.-31G= (n.-31G=)
11	g.2171817C>T	CA597089962	TH	c.-31G>A (n.-31G>A)	dbSNP gnomAD v2 gnomAD v4
11	g.2171818A>G	CA2611984325	TH	c.-32T>C (n.-32T>C)	gnomAD v4
11	g.2171819C>A	CA2574757434	TH	c.-33G>T (n.-33G>T)
11	g.2171819C>T	CA2611984328	TH	c.-33G>A (n.-33G>A)	gnomAD v4
11	g.2171820A=	CA1948012174	TH	c.-34T= (n.-34T=)
11	g.2171820A>G	CA2611984333	TH	c.-34T>C (n.-34T>C)	gnomAD v4
11	g.2171820A>T	CA5818910	TH	c.-34T>A (n.-34T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.2171821G>T	CA2611984338	TH	c.-35C>A (n.-35C>A)	gnomAD v4
11	g.2171822C>A	CA2611984341	TH	c.-36G>T (n.-36G>T)	gnomAD v4
11	g.2171822C>T	CA2611984343	TH	c.-36G>A (n.-36G>A)	gnomAD v4

Number of alleles fetched