Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.71147169T>A	CA381961187	SHANK2	c.158A>T (p.Gln53Leu)
11	g.71147169T>C	CA381961189	SHANK2	c.158A>G (p.Gln53Arg)
11	g.71147169T>G	CA381961188	SHANK2	c.158A>C (p.Gln53Pro)
11	g.71147170G>A	CA381961190	SHANK2	c.157C>T (p.Gln53Ter)
11	g.71147170G>C	CA381961193	SHANK2	c.157C>G (p.Gln53Glu)
11	g.71147170G>T	CA381961191	SHANK2	c.157C>A (p.Gln53Lys)
11	g.71147171G>A	CA475815213	SHANK2	c.156C>T (p.Ser52=)	dbSNP gnomAD v2 gnomAD v4
11	g.71147171G>C	CA381961195	SHANK2	c.156C>G (p.Ser52Arg)	gnomAD v4
11	g.71147171G=	CA1981346098	SHANK2	c.156C= (p.Ser52=)
11	g.71147171G>T	CA381961196	SHANK2	c.156C>A (p.Ser52Arg)
11	g.71147172C>A	CA381961197	SHANK2	c.155G>T (p.Ser52Ile)	gnomAD v4
11	g.71147172C>G	CA381961199	SHANK2	c.155G>C (p.Ser52Thr)
11	g.71147172C>T	CA381961198	SHANK2	c.155G>A (p.Ser52Asn)	gnomAD v4
11	g.71147173T>A	CA381961200	SHANK2	c.154A>T (p.Ser52Cys)
11	g.71147173T>C	CA381961202	SHANK2	c.154A>G (p.Ser52Gly)
11	g.71147173T>G	CA381961201	SHANK2	c.154A>C (p.Ser52Arg)
11	g.71147174C>A	CA381961203	SHANK2	c.153G>T (p.Glu51Asp)
11	g.71147174C=	CA1981346101	SHANK2	c.153G= (p.Glu51=)
11	g.71147174C>G	CA381961204	SHANK2	c.153G>C (p.Glu51Asp)	dbSNP gnomAD v2 gnomAD v4
11	g.71147174C>T	CA475815215	SHANK2	c.153G>A (p.Glu51=)
11	g.71147178_71147180del	CA2614884939	SHANK2	c.151_153del (p.Glu51del)	gnomAD v4
11	g.71147175T>A	CA381961205	SHANK2	c.152A>T (p.Glu51Val)
11	g.71147175T>C	CA381961206	SHANK2	c.152A>G (p.Glu51Gly)
11	g.71147175T>G	CA381961207	SHANK2	c.152A>C (p.Glu51Ala)
11	g.71147176C>A	CA381961208	SHANK2	c.151G>T (p.Glu51Ter)
11	g.71147176C>G	CA381961209	SHANK2	c.151G>C (p.Glu51Gln)
11	g.71147176C>T	CA381961210	SHANK2	c.151G>A (p.Glu51Lys)	gnomAD v4
11	g.71147177C>A	CA381961211	SHANK2	c.150G>T (p.Glu50Asp)
11	g.71147177C>G	CA381961212	SHANK2	c.150G>C (p.Glu50Asp)
11	g.71147177C>T	CA475815216	SHANK2	c.150G>A (p.Glu50=)
11	g.71147178T>A	CA381961213	SHANK2	c.149A>T (p.Glu50Val)
11	g.71147178T>C	CA381961214	SHANK2	c.149A>G (p.Glu50Gly)
11	g.71147178T>G	CA381961215	SHANK2	c.149A>C (p.Glu50Ala)
11	g.71147179C>A	CA381961218	SHANK2	c.148G>T (p.Glu50Ter)	gnomAD v4
11	g.71147179C>G	CA381961217	SHANK2	c.148G>C (p.Glu50Gln)
11	g.71147179C>T	CA381961216	SHANK2	c.148G>A (p.Glu50Lys)
11	g.71147180del	CA2614884940	SHANK2	c.148del (p.Glu50ArgfsTer9)	gnomAD v4
11	g.71147180C>A	CA475815217	SHANK2	c.147G>T (p.Thr49=)
11	g.71147180C=	CA1981346105	SHANK2	c.147G= (p.Thr49=)
11	g.71147180C>G	CA475815218	SHANK2	c.147G>C (p.Thr49=)	gnomAD v4
11	g.71147180C>T	CA6162173	SHANK2	c.147G>A (p.Thr49=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11	g.71147181G>A	CA6162174	SHANK2	c.146C>T (p.Thr49Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.71147181G>C	CA381961219	SHANK2	c.146C>G (p.Thr49Arg)
11	g.71147181G=	CA1981346108	SHANK2	c.146C= (p.Thr49=)
11	g.71147181G>T	CA381961220	SHANK2	c.146C>A (p.Thr49Lys)
11	g.71147182T>A	CA381961221	SHANK2	c.145A>T (p.Thr49Ser)
11	g.71147182T>C	CA381961222	SHANK2	c.145A>G (p.Thr49Ala)
11	g.71147182T>G	CA381961223	SHANK2	c.145A>C (p.Thr49Pro)
11	g.71147183_71147185dup	CA939354836	SHANK2	c.143_145dup (p.Arg48_Thr49insArg)	dbSNP gnomAD v3 gnomAD v4
11	g.71147183C>A	CA381961224	SHANK2	c.144G>T (p.Arg48Ser)
11	g.71147183C=	CA1981346111	SHANK2	c.144G= (p.Arg48=)
11	g.71147183C>G	CA381961225	SHANK2	c.144G>C (p.Arg48Ser)
11	g.71147183C>T	CA475815219	SHANK2	c.144G>A (p.Arg48=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147184C>A	CA381961226	SHANK2	c.143G>T (p.Arg48Met)
11	g.71147184C>G	CA381961227	SHANK2	c.143G>C (p.Arg48Thr)
11	g.71147184C>T	CA381961228	SHANK2	c.143G>A (p.Arg48Lys)
11	g.71147185T>A	CA381961230	SHANK2	c.142A>T (p.Arg48Trp)
11	g.71147185T>C	CA381961229	SHANK2	c.142A>G (p.Arg48Gly)	dbSNP gnomAD v2 gnomAD v4
11	g.71147185T>G	CA475815220	SHANK2	c.142A>C (p.Arg48=)
11	g.71147185T=	CA1981346114	SHANK2	c.142A= (p.Arg48=)
11	g.71147186G>A	CA475815221	SHANK2	c.141C>T (p.Ala47=)	dbSNP gnomAD v2 gnomAD v4
11	g.71147186G>C	CA475815222	SHANK2	c.141C>G (p.Ala47=)
11	g.71147186G=	CA1981346119	SHANK2	c.141C= (p.Ala47=)
11	g.71147186G>T	CA475815223	SHANK2	c.141C>A (p.Ala47=)
11	g.71147187G>A	CA381961231	SHANK2	c.140C>T (p.Ala47Val)
11	g.71147187G>C	CA381961232	SHANK2	c.140C>G (p.Ala47Gly)
11	g.71147187G>T	CA381961233	SHANK2	c.140C>A (p.Ala47Asp)
11	g.71147188C>A	CA381961234	SHANK2	c.139G>T (p.Ala47Ser)	gnomAD v4
11	g.71147188C=	CA1981346123	SHANK2	c.139G= (p.Ala47=)
11	g.71147188C>G	CA381961235	SHANK2	c.139G>C (p.Ala47Pro)
11	g.71147188C>T	CA381961236	SHANK2	c.139G>A (p.Ala47Thr)	dbSNP gnomAD v2 gnomAD v4
11	g.71147189A>C	CA475815224	SHANK2	c.138T>G (p.Gly46=)
11	g.71147189A>G	CA475815225	SHANK2	c.138T>C (p.Gly46=)
11	g.71147189A>T	CA475815226	SHANK2	c.138T>A (p.Gly46=)
11	g.71147190C>A	CA381961237	SHANK2	c.137G>T (p.Gly46Val)
11	g.71147190C>G	CA381961238	SHANK2	c.137G>C (p.Gly46Ala)
11	g.71147190C>T	CA381961239	SHANK2	c.137G>A (p.Gly46Asp)
11	g.71147191C>A	CA381961240	SHANK2	c.136G>T (p.Gly46Cys)	gnomAD v4
11	g.71147191C=	CA1981346129	SHANK2	c.136G= (p.Gly46=)
11	g.71147191C>G	CA381961241	SHANK2	c.136G>C (p.Gly46Arg)
11	g.71147191C>T	CA6162175	SHANK2	c.136G>A (p.Gly46Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147192G>A	CA6162176	SHANK2	c.135C>T (p.Gly45=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147192G>C	CA475815228	SHANK2	c.135C>G (p.Gly45=)
11	g.71147192G=	CA1981346134	SHANK2	c.135C= (p.Gly45=)
11	g.71147192G>T	CA475815229	SHANK2	c.135C>A (p.Gly45=)
11	g.71147193C>A	CA381961244	SHANK2	c.134G>T (p.Gly45Val)	gnomAD v4
11	g.71147193C>G	CA381961242	SHANK2	c.134G>C (p.Gly45Ala)
11	g.71147193C>T	CA381961243	SHANK2	c.134G>A (p.Gly45Asp)
11	g.71147194C>A	CA381961245	SHANK2	c.133G>T (p.Gly45Cys)
11	g.71147194C=	CA1981346139	SHANK2	c.133G= (p.Gly45=)
11	g.71147194C>G	CA381961246	SHANK2	c.133G>C (p.Gly45Arg)
11	g.71147194C>T	CA381961247	SHANK2	c.133G>A (p.Gly45Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147195C>A	CA475815231	SHANK2	c.132G>T (p.Pro44=)
11	g.71147195C=	CA1981346144	SHANK2	c.132G= (p.Pro44=)
11	g.71147195C>G	CA475815232	SHANK2	c.132G>C (p.Pro44=)
11	g.71147195C>T	CA6162177	SHANK2	c.132G>A (p.Pro44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147196G>A	CA6162178	SHANK2	c.131C>T (p.Pro44Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147196G>C	CA381961248	SHANK2	c.131C>G (p.Pro44Arg)
11	g.71147196G=	CA1981346149	SHANK2	c.131C= (p.Pro44=)
11	g.71147196G>T	CA381961249	SHANK2	c.131C>A (p.Pro44Gln)
11	g.71147197G>A	CA381961250	SHANK2	c.130C>T (p.Pro44Ser)
11	g.71147197G>C	CA381961251	SHANK2	c.130C>G (p.Pro44Ala)	gnomAD v4
11	g.71147197G>T	CA381961252	SHANK2	c.130C>A (p.Pro44Thr)
11	g.71147198C>A	CA381961253	SHANK2	c.129G>T (p.Lys43Asn)	gnomAD v4
11	g.71147198C>G	CA381961254	SHANK2	c.129G>C (p.Lys43Asn)
11	g.71147198C>T	CA475815233	SHANK2	c.129G>A (p.Lys43=)
11	g.71147199T>A	CA381961257	SHANK2	c.128A>T (p.Lys43Met)
11	g.71147199T>C	CA381961256	SHANK2	c.128A>G (p.Lys43Arg)
11	g.71147199T>G	CA381961255	SHANK2	c.128A>C (p.Lys43Thr)
11	g.71147200T>A	CA381961259	SHANK2	c.127A>T (p.Lys43Ter)	dbSNP gnomAD v2 gnomAD v4 COSMIC
11	g.71147200T>C	CA381961258	SHANK2	c.127A>G (p.Lys43Glu)
11	g.71147200T>G	CA381961260	SHANK2	c.127A>C (p.Lys43Gln)
11	g.71147200T=	CA1981346156	SHANK2	c.127A= (p.Lys43=)
11	g.71147201C>A	CA6162179	SHANK2	c.126G>T (p.Glu42Asp)	dbSNP ExAC gnomAD v2
11	g.71147201C=	CA1981346159	SHANK2	c.126G= (p.Glu42=)
11	g.71147201C>G	CA381961261	SHANK2	c.126G>C (p.Glu42Asp)
11	g.71147201C>T	CA475815236	SHANK2	c.126G>A (p.Glu42=)
11	g.71147202T>A	CA381961262	SHANK2	c.125A>T (p.Glu42Val)
11	g.71147202T>C	CA381961263	SHANK2	c.125A>G (p.Glu42Gly)
11	g.71147202T>G	CA381961264	SHANK2	c.125A>C (p.Glu42Ala)
11	g.71147203C>A	CA381961265	SHANK2	c.124G>T (p.Glu42Ter)
11	g.71147203C>G	CA381961266	SHANK2	c.124G>C (p.Glu42Gln)
11	g.71147203C>T	CA381961267	SHANK2	c.124G>A (p.Glu42Lys)
11	g.71147204C>A	CA475815237	SHANK2	c.123G>T (p.Ala41=)
11	g.71147204C=	CA1981346161	SHANK2	c.123G= (p.Ala41=)
11	g.71147204C>G	CA475815238	SHANK2	c.123G>C (p.Ala41=)
11	g.71147204C>T	CA475815239	SHANK2	c.123G>A (p.Ala41=)	dbSNP gnomAD v3 gnomAD v4
11	g.71147205G>A	CA6162180	SHANK2	c.122C>T (p.Ala41Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147205G>C	CA381961268	SHANK2	c.122C>G (p.Ala41Gly)
11	g.71147205G=	CA1981346164	SHANK2	c.122C= (p.Ala41=)
11	g.71147205G>T	CA381961269	SHANK2	c.122C>A (p.Ala41Glu)
11	g.71147206C>A	CA381961272	SHANK2	c.121G>T (p.Ala41Ser)
11	g.71147206C>G	CA381961271	SHANK2	c.121G>C (p.Ala41Pro)
11	g.71147206C>T	CA381961270	SHANK2	c.121G>A (p.Ala41Thr)
11	g.71147207del	CA2614884941	SHANK2	c.120del (p.Ala41ArgfsTer18)	gnomAD v4
11	g.71147207A>C	CA475815240	SHANK2	c.120T>G (p.Thr40=)
11	g.71147207A>G	CA475815241	SHANK2	c.120T>C (p.Thr40=)	dbSNP gnomAD v3 gnomAD v4
11	g.71147207A>T	CA475815242	SHANK2	c.120T>A (p.Thr40=)
11	g.71147208G>A	CA381961273	SHANK2	c.119C>T (p.Thr40Ile)
11	g.71147208G>C	CA381961274	SHANK2	c.119C>G (p.Thr40Ser)
11	g.71147208G>T	CA381961275	SHANK2	c.119C>A (p.Thr40Asn)
11	g.71147209T>A	CA381961276	SHANK2	c.118A>T (p.Thr40Ser)
11	g.71147209T>C	CA381961277	SHANK2	c.118A>G (p.Thr40Ala)
11	g.71147209T>G	CA381961278	SHANK2	c.118A>C (p.Thr40Pro)
11	g.71147210G>A	CA475815243	SHANK2	c.117C>T (p.Ala39=)	gnomAD v4
11	g.71147210G>C	CA475815244	SHANK2	c.117C>G (p.Ala39=)
11	g.71147210G>T	CA475815245	SHANK2	c.117C>A (p.Ala39=)
11	g.71147211del	CA2614884942	SHANK2	c.117del (p.Thr40LeufsTer19)	gnomAD v4
11	g.71147211G>A	CA381961279	SHANK2	c.116C>T (p.Ala39Val)	dbSNP gnomAD v2 gnomAD v4
11	g.71147211G>C	CA381961280	SHANK2	c.116C>G (p.Ala39Gly)
11	g.71147211G=	CA1981346168	SHANK2	c.116C= (p.Ala39=)
11	g.71147211G>T	CA381961281	SHANK2	c.116C>A (p.Ala39Asp)	gnomAD v4
11	g.71147212C>A	CA381961282	SHANK2	c.115G>T (p.Ala39Ser)
11	g.71147212C>G	CA381961283	SHANK2	c.115G>C (p.Ala39Pro)
11	g.71147212C>T	CA381961284	SHANK2	c.115G>A (p.Ala39Thr)
11	g.71147213C>A	CA475815248	SHANK2	c.114G>T (p.Arg38=)
11	g.71147213C>G	CA475815247	SHANK2	c.114G>C (p.Arg38=)
11	g.71147213C>T	CA475815246	SHANK2	c.114G>A (p.Arg38=)
11	g.71147214C>A	CA381961286	SHANK2	c.113G>T (p.Arg38Leu)	COSMIC
11	g.71147214C=	CA1981346172	SHANK2	c.113G= (p.Arg38=)
11	g.71147214C>G	CA381961287	SHANK2	c.113G>C (p.Arg38Pro)
11	g.71147214C>T	CA381961285	SHANK2	c.113G>A (p.Arg38Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147215G>A	CA6162181	SHANK2	c.112C>T (p.Arg38Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147215G>C	CA381961288	SHANK2	c.112C>G (p.Arg38Gly)
11	g.71147215G=	CA1981346174	SHANK2	c.112C= (p.Arg38=)
11	g.71147215G>T	CA475815249	SHANK2	c.112C>A (p.Arg38=)
11	g.71147216G>A	CA475815250	SHANK2	c.111C>T (p.Ile37=)
11	g.71147216G>C	CA381961289	SHANK2	c.111C>G (p.Ile37Met)
11	g.71147216G=	CA1981346180	SHANK2	c.111C= (p.Ile37=)
11	g.71147216G>T	CA475815251	SHANK2	c.111C>A (p.Ile37=)	dbSNP gnomAD v3 gnomAD v4
11	g.71147217A>C	CA381961290	SHANK2	c.110T>G (p.Ile37Ser)
11	g.71147217A>G	CA381961291	SHANK2	c.110T>C (p.Ile37Thr)
11	g.71147217A>T	CA381961292	SHANK2	c.110T>A (p.Ile37Asn)
11	g.71147218T>A	CA381961293	SHANK2	c.109A>T (p.Ile37Phe)
11	g.71147218T>C	CA381961294	SHANK2	c.109A>G (p.Ile37Val)
11	g.71147218T>G	CA381961295	SHANK2	c.109A>C (p.Ile37Leu)
11	g.71147219C>A	CA475815252	SHANK2	c.108G>T (p.Thr36=)	gnomAD v4
11	g.71147219C=	CA1981346183	SHANK2	c.108G= (p.Thr36=)
11	g.71147219C>G	CA475815253	SHANK2	c.108G>C (p.Thr36=)	dbSNP gnomAD v2 gnomAD v4
11	g.71147219C>T	CA224343897	SHANK2	c.108G>A (p.Thr36=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
11	g.71147220G>A	CA6162182	SHANK2	c.107C>T (p.Thr36Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147220G>C	CA381961296	SHANK2	c.107C>G (p.Thr36Arg)
11	g.71147220G=	CA1981346188	SHANK2	c.107C= (p.Thr36=)
11	g.71147220G>T	CA381961297	SHANK2	c.107C>A (p.Thr36Lys)
11	g.71147221T>A	CA381961300	SHANK2	c.106A>T (p.Thr36Ser)
11	g.71147221T>C	CA381961299	SHANK2	c.106A>G (p.Thr36Ala)
11	g.71147221T>G	CA381961298	SHANK2	c.106A>C (p.Thr36Pro)
11	g.71147222G>A	CA475815255	SHANK2	c.105C>T (p.Asp35=)	gnomAD v4
11	g.71147222G>C	CA381961301	SHANK2	c.105C>G (p.Asp35Glu)
11	g.71147222G>T	CA381961302	SHANK2	c.105C>A (p.Asp35Glu)
11	g.71147223T>A	CA381961303	SHANK2	c.104A>T (p.Asp35Val)
11	g.71147223T>C	CA381961304	SHANK2	c.104A>G (p.Asp35Gly)
11	g.71147223T>G	CA381961305	SHANK2	c.104A>C (p.Asp35Ala)	dbSNP
11	g.71147223T=	CA1981346192	SHANK2	c.104A= (p.Asp35=)
11	g.71147224C>A	CA381961306	SHANK2	c.103G>T (p.Asp35Tyr)
11	g.71147224C>G	CA381961308	SHANK2	c.103G>C (p.Asp35His)
11	g.71147224C>T	CA381961309	SHANK2	c.103G>A (p.Asp35Asn)
11	g.71147225A=	CA1981346196	SHANK2	c.102T= (p.Tyr34=)
11	g.71147225A>C	CA381961310	SHANK2	c.102T>G (p.Tyr34Ter)
11	g.71147225A>G	CA475815256	SHANK2	c.102T>C (p.Tyr34=)	dbSNP
11	g.71147225A>T	CA381961311	SHANK2	c.102T>A (p.Tyr34Ter)
11	g.71147226T>A	CA381961312	SHANK2	c.101A>T (p.Tyr34Phe)
11	g.71147226T>C	CA381961313	SHANK2	c.101A>G (p.Tyr34Cys)	dbSNP gnomAD v4
11	g.71147226T>G	CA381961314	SHANK2	c.101A>C (p.Tyr34Ser)
11	g.71147226T=	CA1981346199	SHANK2	c.101A= (p.Tyr34=)
11	g.71147227A=	CA1981346202	SHANK2	c.100T= (p.Tyr34=)
11	g.71147227A>C	CA381961316	SHANK2	c.100T>G (p.Tyr34Asp)	dbSNP
11	g.71147227A>G	CA381961317	SHANK2	c.100T>C (p.Tyr34His)
11	g.71147227A>T	CA381961315	SHANK2	c.100T>A (p.Tyr34Asn)
11	g.71147228G>A	CA475815257	SHANK2	c.99C>T (p.Ile33=)	dbSNP
11	g.71147228G>C	CA381961318	SHANK2	c.99C>G (p.Ile33Met)	dbSNP gnomAD v2 gnomAD v4
11	g.71147228G=	CA1981346204	SHANK2	c.99C= (p.Ile33=)
11	g.71147228G>T	CA475815258	SHANK2	c.99C>A (p.Ile33=)
11	g.71147229A>C	CA381961320	SHANK2	c.98T>G (p.Ile33Ser)
11	g.71147229A>G	CA381961319	SHANK2	c.98T>C (p.Ile33Thr)
11	g.71147229A>T	CA381961321	SHANK2	c.98T>A (p.Ile33Asn)
11	g.71147230T>A	CA381961322	SHANK2	c.97A>T (p.Ile33Phe)
11	g.71147230T>C	CA381961324	SHANK2	c.97A>G (p.Ile33Val)	gnomAD v4
11	g.71147230T>G	CA381961327	SHANK2	c.97A>C (p.Ile33Leu)	dbSNP gnomAD v2 gnomAD v4
11	g.71147230T=	CA1981346210	SHANK2	c.97A= (p.Ile33=)
11	g.71147230_71147231delinsTG	CA1981346208	SHANK2	c.96_97delinsCA (p.Thr32=)
11	g.71147231G>A	CA475815259	SHANK2	c.96C>T (p.Thr32=)	gnomAD v4
11	g.71147231G>C	CA475815260	SHANK2	c.96C>G (p.Thr32=)
11	g.71147231G>T	CA475815261	SHANK2	c.96C>A (p.Thr32=)
11	g.71147232del	CA679876898	SHANK2	c.96del (p.Ile33SerfsTer26)	dbSNP gnomAD v3 gnomAD v4
11	g.71147232G>A	CA381961328	SHANK2	c.95C>T (p.Thr32Ile)
11	g.71147232G>C	CA381961329	SHANK2	c.95C>G (p.Thr32Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147232G=	CA1981346214	SHANK2	c.95C= (p.Thr32=)
11	g.71147232G>T	CA381961330	SHANK2	c.95C>A (p.Thr32Asn)
11	g.71147233T>A	CA381961331	SHANK2	c.94A>T (p.Thr32Ser)
11	g.71147233T>C	CA381961332	SHANK2	c.94A>G (p.Thr32Ala)
11	g.71147233T>G	CA381961333	SHANK2	c.94A>C (p.Thr32Pro)
11	g.71147234C>A	CA381961334	SHANK2	c.93G>T (p.Glu31Asp)
11	g.71147234C>G	CA381961335	SHANK2	c.93G>C (p.Glu31Asp)
11	g.71147234C>T	CA475815263	SHANK2	c.93G>A (p.Glu31=)
11	g.71147234_71147236del	CA2614884943	SHANK2	c.91_93del (p.Glu31del)	gnomAD v4
11	g.71147235T>A	CA381961338	SHANK2	c.92A>T (p.Glu31Val)
11	g.71147235T>C	CA381961336	SHANK2	c.92A>G (p.Glu31Gly)
11	g.71147235T>G	CA381961337	SHANK2	c.92A>C (p.Glu31Ala)
11	g.71147236C>A	CA381961339	SHANK2	c.91G>T (p.Glu31Ter)
11	g.71147236C>G	CA381961340	SHANK2	c.91G>C (p.Glu31Gln)
11	g.71147236C>T	CA381961341	SHANK2	c.91G>A (p.Glu31Lys)
11	g.71147237T>A	CA381961342	SHANK2	c.90A>T (p.Glu30Asp)
11	g.71147237T>C	CA475815264	SHANK2	c.90A>G (p.Glu30=)	gnomAD v4
11	g.71147237T>G	CA381961343	SHANK2	c.90A>C (p.Glu30Asp)	gnomAD v4
11	g.71147238T>A	CA381961344	SHANK2	c.89A>T (p.Glu30Val)
11	g.71147238T>C	CA381961345	SHANK2	c.89A>G (p.Glu30Gly)
11	g.71147238T>G	CA381961346	SHANK2	c.89A>C (p.Glu30Ala)
11	g.71147239C>A	CA381961347	SHANK2	c.88G>T (p.Glu30Ter)
11	g.71147239C>G	CA381961348	SHANK2	c.88G>C (p.Glu30Gln)	gnomAD v4
11	g.71147239C>T	CA381961349	SHANK2	c.88G>A (p.Glu30Lys)
11	g.71147240T>A	CA381961351	SHANK2	c.87A>T (p.Lys29Asn)
11	g.71147240T>C	CA475815265	SHANK2	c.87A>G (p.Lys29=)
11	g.71147240T>G	CA381961350	SHANK2	c.87A>C (p.Lys29Asn)
11	g.71147241T>A	CA381961352	SHANK2	c.86A>T (p.Lys29Ile)
11	g.71147241T>C	CA381961353	SHANK2	c.86A>G (p.Lys29Arg)
11	g.71147241T>G	CA381961354	SHANK2	c.86A>C (p.Lys29Thr)
11	g.71147242T>A	CA381961355	SHANK2	c.85A>T (p.Lys29Ter)
11	g.71147242T>C	CA381961356	SHANK2	c.85A>G (p.Lys29Glu)
11	g.71147242T>G	CA381961357	SHANK2	c.85A>C (p.Lys29Gln)
11	g.71147243G>A	CA475815274	SHANK2	c.84C>T (p.Ser28=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147243G>C	CA475815273	SHANK2	c.84C>G (p.Ser28=)
11	g.71147243G=	CA1981346216	SHANK2	c.84C= (p.Ser28=)
11	g.71147243G>T	CA475815272	SHANK2	c.84C>A (p.Ser28=)
11	g.71147244G>A	CA381961360	SHANK2	c.83C>T (p.Ser28Phe)	gnomAD v4
11	g.71147244G>C	CA381961358	SHANK2	c.83C>G (p.Ser28Cys)	dbSNP gnomAD v3 gnomAD v4
11	g.71147244G=	CA1981346220	SHANK2	c.83C= (p.Ser28=)
11	g.71147244G>T	CA381961359	SHANK2	c.83C>A (p.Ser28Tyr)
11	g.71147245A>C	CA381961361	SHANK2	c.82T>G (p.Ser28Ala)
11	g.71147245A>G	CA381961362	SHANK2	c.82T>C (p.Ser28Pro)
11	g.71147245A>T	CA381961363	SHANK2	c.82T>A (p.Ser28Thr)
11	g.71147246G>A	CA475815277	SHANK2	c.81C>T (p.Ser27=)
11	g.71147246G>C	CA381961365	SHANK2	c.81C>G (p.Ser27Arg)
11	g.71147246G>T	CA381961366	SHANK2	c.81C>A (p.Ser27Arg)
11	g.71147247C>A	CA381961367	SHANK2	c.80G>T (p.Ser27Ile)
11	g.71147247C>G	CA381961369	SHANK2	c.80G>C (p.Ser27Thr)
11	g.71147247C>T	CA381961368	SHANK2	c.80G>A (p.Ser27Asn)
11	g.71147248T>A	CA381961370	SHANK2	c.79A>T (p.Ser27Cys)
11	g.71147248T>C	CA381961371	SHANK2	c.79A>G (p.Ser27Gly)
11	g.71147248T>G	CA381961373	SHANK2	c.79A>C (p.Ser27Arg)
11	g.71147249G>A	CA475815279	SHANK2	c.78C>T (p.Asp26=)
11	g.71147249G>C	CA381961375	SHANK2	c.78C>G (p.Asp26Glu)
11	g.71147249G>T	CA381961376	SHANK2	c.78C>A (p.Asp26Glu)
11	g.71147250T>A	CA381961377	SHANK2	c.77A>T (p.Asp26Val)
11	g.71147250T>C	CA381961378	SHANK2	c.77A>G (p.Asp26Gly)	gnomAD v4
11	g.71147250T>G	CA381961379	SHANK2	c.77A>C (p.Asp26Ala)
11	g.71147251C>A	CA381961380	SHANK2	c.76G>T (p.Asp26Tyr)
11	g.71147251C>G	CA381961382	SHANK2	c.76G>C (p.Asp26His)
11	g.71147251C>T	CA381961384	SHANK2	c.76G>A (p.Asp26Asn)	gnomAD v4
11	g.71147252T>A	CA475815280	SHANK2	c.75A>T (p.Ser25=)
11	g.71147252T>C	CA475815281	SHANK2	c.75A>G (p.Ser25=)	gnomAD v4
11	g.71147252T>G	CA475815282	SHANK2	c.75A>C (p.Ser25=)
11	g.71147253G>A	CA6162183	SHANK2	c.74C>T (p.Ser25Leu)	dbSNP ExAC
11	g.71147253G>C	CA381961386	SHANK2	c.74C>G (p.Ser25Ter)
11	g.71147253G=	CA1981346224	SHANK2	c.74C= (p.Ser25=)
11	g.71147253G>T	CA381961385	SHANK2	c.74C>A (p.Ser25Ter)
11	g.71147254A>C	CA381961389	SHANK2	c.73T>G (p.Ser25Ala)
11	g.71147254A>G	CA381961387	SHANK2	c.73T>C (p.Ser25Pro)
11	g.71147254A>T	CA381961388	SHANK2	c.73T>A (p.Ser25Thr)
11	g.71147255C>A	CA381961390	SHANK2	c.72G>T (p.Glu24Asp)	dbSNP gnomAD v4
11	g.71147255C=	CA1981346226	SHANK2	c.72G= (p.Glu24=)
11	g.71147255C>G	CA381961391	SHANK2	c.72G>C (p.Glu24Asp)
11	g.71147255C>T	CA475815284	SHANK2	c.72G>A (p.Glu24=)	dbSNP gnomAD v4
11	g.71147256T>A	CA381961392	SHANK2	c.71A>T (p.Glu24Val)
11	g.71147256T>C	CA381961393	SHANK2	c.71A>G (p.Glu24Gly)
11	g.71147256T>G	CA381961394	SHANK2	c.71A>C (p.Glu24Ala)
11	g.71147257C>A	CA381961395	SHANK2	c.70G>T (p.Glu24Ter)	COSMIC
11	g.71147257C>G	CA381961396	SHANK2	c.70G>C (p.Glu24Gln)
11	g.71147257C>T	CA381961397	SHANK2	c.70G>A (p.Glu24Lys)	gnomAD v4
11	g.71147258C>A	CA475815285	SHANK2	c.69G>T (p.Ser23=)
11	g.71147258C=	CA1981346229	SHANK2	c.69G= (p.Ser23=)
11	g.71147258C>G	CA475815286	SHANK2	c.69G>C (p.Ser23=)
11	g.71147258C>T	CA475815287	SHANK2	c.69G>A (p.Ser23=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147259G>A	CA6162184	SHANK2	c.68C>T (p.Ser23Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147259G>C	CA381961398	SHANK2	c.68C>G (p.Ser23Trp)	gnomAD v4
11	g.71147259G=	CA1981346232	SHANK2	c.68C= (p.Ser23=)
11	g.71147259G>T	CA381961399	SHANK2	c.68C>A (p.Ser23Ter)
11	g.71147260A>C	CA381961402	SHANK2	c.67T>G (p.Ser23Ala)
11	g.71147260A>G	CA381961400	SHANK2	c.67T>C (p.Ser23Pro)	gnomAD v4
11	g.71147260A>T	CA381961401	SHANK2	c.67T>A (p.Ser23Thr)
11	g.71147261C>A	CA475815290	SHANK2	c.66G>T (p.Gly22=)	dbSNP gnomAD v2 gnomAD v4
11	g.71147261C=	CA1981346235	SHANK2	c.66G= (p.Gly22=)
11	g.71147261C>G	CA475815288	SHANK2	c.66G>C (p.Gly22=)
11	g.71147261C>T	CA475815289	SHANK2	c.66G>A (p.Gly22=)
11	g.71147262C>A	CA381961403	SHANK2	c.65G>T (p.Gly22Val)
11	g.71147262C=	CA1981346238	SHANK2	c.65G= (p.Gly22=)
11	g.71147262C>G	CA381961404	SHANK2	c.65G>C (p.Gly22Ala)	dbSNP gnomAD v3 gnomAD v4
11	g.71147262C>T	CA381961405	SHANK2	c.65G>A (p.Gly22Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147263C>A	CA381961406	SHANK2	c.64G>T (p.Gly22Trp)
11	g.71147263C=	CA1981346241	SHANK2	c.64G= (p.Gly22=)
11	g.71147263C>G	CA381961407	SHANK2	c.64G>C (p.Gly22Arg)
11	g.71147263C>T	CA381961408	SHANK2	c.64G>A (p.Gly22Arg)	dbSNP gnomAD v2 gnomAD v4
11	g.71147264C>A	CA475815293	SHANK2	c.63G>T (p.Val21=)
11	g.71147264C>G	CA475815292	SHANK2	c.63G>C (p.Val21=)
11	g.71147264C>T	CA475815291	SHANK2	c.63G>A (p.Val21=)
11	g.71147265A>C	CA381961409	SHANK2	c.62T>G (p.Val21Gly)
11	g.71147265A>G	CA381961410	SHANK2	c.62T>C (p.Val21Ala)	gnomAD v4
11	g.71147265A>T	CA381961411	SHANK2	c.62T>A (p.Val21Glu)	gnomAD v4
11	g.71147266C>A	CA381961412	SHANK2	c.61G>T (p.Val21Leu)	gnomAD v4
11	g.71147266C=	CA1981346245	SHANK2	c.61G= (p.Val21=)
11	g.71147266C>G	CA381961413	SHANK2	c.61G>C (p.Val21Leu)
11	g.71147266C>T	CA6162185	SHANK2	c.61G>A (p.Val21Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147267G>A	CA6162186	SHANK2	c.60C>T (p.Ser20=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147267G>C	CA475815295	SHANK2	c.60C>G (p.Ser20=)	dbSNP gnomAD v2 gnomAD v4
11	g.71147267G=	CA1981346250	SHANK2	c.60C= (p.Ser20=)
11	g.71147267G>T	CA475815294	SHANK2	c.60C>A (p.Ser20=)	gnomAD v4
11	g.71147268dup	CA224343905	SHANK2	c.60dup (p.Val21ArgfsTer15)	dbSNP
11	g.71147268G>A	CA381961414	SHANK2	c.59C>T (p.Ser20Phe)	gnomAD v4
11	g.71147268G>C	CA381961415	SHANK2	c.59C>G (p.Ser20Cys)
11	g.71147268G=	CA1981346253	SHANK2	c.59C= (p.Ser20=)
11	g.71147268G>T	CA6162187	SHANK2	c.59C>A (p.Ser20Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.71147269A>C	CA381961416	SHANK2	c.58T>G (p.Ser20Ala)
11	g.71147269A>G	CA381961417	SHANK2	c.58T>C (p.Ser20Pro)
11	g.71147269A>T	CA381961419	SHANK2	c.58T>A (p.Ser20Thr)

Number of alleles fetched