CleftGeneDB-Search

Gene: MKS1

Basic information

Tag	Content
Uniprot ID	Q9NXB0; B7WNX4; F5H885; Q284T0; Q96G13;
Entrez ID	54903
Genbank protein ID	CAG33510.1; AAH10061.1; BAA91105.1; AAZ94714.1;
Genbank nucleotide ID	XM_017024805.1; NM_001321269.1; NM_001165927.1; NM_017777.3; NM_001321268.1;
Ensembl protein ID	ENSP00000442096; ENSP00000376827;
Ensembl nucleotide ID	ENSG00000011143
Gene name	Meckel syndrome type 1 protein
Gene symbol	MKS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
Sequence	MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ 60 PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK 120 KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR 180 IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP 240 DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG 300 TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT 360 KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL 420 PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT 480 ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ 540 EARESLPQDL VSPSGTLVS 559

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MKS1	101905689	A6QQN3		Bos taurus	Prediction	More>>
1:1 ortholog	MKS1	102185497	A0A452FUL1		Capra hircus	Prediction	More>>
1:1 ortholog	MKS1	54903	Q9NXB0		Homo sapiens	Prediction	More>>
1:1 ortholog	Mks1	380718	Q5SW45	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	MKS1	455153	H2QDI7		Pan troglodytes	Prediction	More>>
1:1 ortholog	Mks1		F1LSL4		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mks1	556706	A3QK09		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000674956	p.Met1Val	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58219230T>C	ClinVar
rs377040370	p.Ala2Val	missense variant	-	NC_000017.11:g.58219226G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu3Lys	missense variant	-	NC_000017.11:g.58219224C>T	NCI-TCGA
rs928775924	p.Thr4Ser	missense variant	-	NC_000017.11:g.58219221T>A	TOPMed,gnomAD
rs1164077334	p.Val5Ile	missense variant	-	NC_000017.11:g.58219218C>T	gnomAD
rs980185244	p.Trp6Ter	stop gained	-	NC_000017.11:g.58219213C>T	TOPMed,gnomAD
rs754729482	p.Thr8Ile	missense variant	-	NC_000017.11:g.58219208G>A	ExAC,gnomAD
rs1268882545	p.Thr10Asn	missense variant	-	NC_000017.11:g.58219202G>T	gnomAD
rs1021790535	p.Thr10Ala	missense variant	-	NC_000017.11:g.58219203T>C	TOPMed
rs762103206	p.Gly11Arg	missense variant	-	NC_000017.11:g.58219200C>G	ExAC,TOPMed,gnomAD
rs375223375	p.Gly11Glu	missense variant	-	NC_000017.11:g.58219199C>T	ESP,ExAC,TOPMed
rs762103206	p.Gly11Arg	missense variant	-	NC_000017.11:g.58219200C>T	ExAC,TOPMed,gnomAD
rs375223375	p.Gly11Ala	missense variant	-	NC_000017.11:g.58219199C>G	ESP,ExAC,TOPMed
RCV000731433	p.Glu12Asp	missense variant	-	NC_000017.11:g.58219195C>A	ClinVar
rs1183365510	p.Glu12Lys	missense variant	-	NC_000017.11:g.58219197C>T	TOPMed
rs1386455261	p.Glu12Asp	missense variant	-	NC_000017.11:g.58219195C>A	TOPMed
rs1290085395	p.Ala13Ser	missense variant	-	NC_000017.11:g.58219194C>A	TOPMed,gnomAD
rs1290085395	p.Ala13Thr	missense variant	-	NC_000017.11:g.58219194C>T	TOPMed,gnomAD
rs1238624666	p.Val14Gly	missense variant	-	NC_000017.11:g.58219190A>C	gnomAD
rs1166824059	p.Tyr15His	missense variant	-	NC_000017.11:g.58219188A>G	TOPMed
rs1011348762	p.Arg16Cys	missense variant	-	NC_000017.11:g.58219185G>A	TOPMed
RCV000022412	p.Asp19Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58219177_58219181dup	ClinVar
RCV000201752	p.Asp19Tyr	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58219176C>A	ClinVar
rs863225205	p.Asp19Tyr	missense variant	-	NC_000017.11:g.58219176C>A	-
rs863225205	p.Asp19Tyr	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58219176C>A	UniProt,dbSNP
VAR_077515	p.Asp19Tyr	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58219176C>A	UniProt
RCV000672700	p.Asp19Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58219176_58219180dup	ClinVar
RCV000050038	p.Asp19Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58219176_58219180dup	ClinVar
rs1281315294	p.Pro20Thr	missense variant	-	NC_000017.11:g.58219173G>T	gnomAD
rs1438292552	p.Pro20Leu	missense variant	-	NC_000017.11:g.58219172G>A	gnomAD
rs1376789752	p.Val21Ala	missense variant	-	NC_000017.11:g.58219169A>G	TOPMed,gnomAD
rs1031187314	p.Arg22Cys	missense variant	-	NC_000017.11:g.58219167G>A	TOPMed,gnomAD
RCV000538877	p.Arg22Ser	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58219167G>T	ClinVar
rs1031187314	p.Arg22Ser	missense variant	-	NC_000017.11:g.58219167G>T	TOPMed,gnomAD
rs1400313791	p.Leu24Ser	missense variant	-	NC_000017.11:g.58219160A>G	TOPMed,gnomAD
rs999753696	p.Arg25His	missense variant	-	NC_000017.11:g.58219157C>T	TOPMed
rs901426602	p.Leu26Phe	missense variant	-	NC_000017.11:g.58219155G>A	TOPMed,gnomAD
rs1457838607	p.Arg27Leu	missense variant	-	NC_000017.11:g.58219151C>A	gnomAD
rs1161451203	p.Arg27Ter	stop gained	-	NC_000017.11:g.58219152G>A	TOPMed,gnomAD
rs201957874	p.Val28Gly	missense variant	-	NC_000017.11:g.58218727A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201957874	p.Val28Ala	missense variant	-	NC_000017.11:g.58218727A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His29Gln	missense variant	-	NC_000017.11:g.58218723G>C	NCI-TCGA
rs1214897554	p.Gln31Glu	missense variant	-	NC_000017.11:g.58218719G>C	gnomAD
rs767646864	p.Gln31Arg	missense variant	-	NC_000017.11:g.58218718T>C	ExAC,TOPMed,gnomAD
rs1212528189	p.Ile33Asn	missense variant	-	NC_000017.11:g.58218712A>T	gnomAD
rs759465861	p.Thr34Ile	missense variant	-	NC_000017.11:g.58218709G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr34ValAlaGlySerAlaPro	insertion	-	NC_000017.11:g.58218708_58218709insGGGGCACTCCCAGCCACG	NCI-TCGA
RCV000671334	p.Asn37Ser	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58218700T>C	ClinVar
rs587779734	p.Asn37Ser	missense variant	-	NC_000017.11:g.58218700T>C	ExAC,TOPMed,gnomAD
rs587779734	p.Asn37Ile	missense variant	-	NC_000017.11:g.58218700T>A	ExAC,TOPMed,gnomAD
RCV000114211	p.Asn37Ser	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58218700T>C	ClinVar
rs1409024170	p.Asn37Lys	missense variant	-	NC_000017.11:g.58218699G>C	TOPMed
COSM981769	p.Leu39Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218695G>T	NCI-TCGA Cosmic
rs11653070	p.Leu39Phe	missense variant	-	NC_000017.11:g.58218695G>A	UniProt,dbSNP
VAR_060161	p.Leu39Phe	missense variant	-	NC_000017.11:g.58218695G>A	UniProt
rs11653070	p.Leu39Phe	missense variant	-	NC_000017.11:g.58218695G>A	-
rs199832333	p.His40Tyr	missense variant	-	NC_000017.11:g.58218692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000765374	p.His40Tyr	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58218692G>A	ClinVar
RCV000724912	p.His40Tyr	missense variant	-	NC_000017.11:g.58218692G>A	ClinVar
rs1360195350	p.Tyr41Phe	missense variant	-	NC_000017.11:g.58218688T>A	gnomAD
RCV000554973	p.Pro43Arg	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58218682G>C	ClinVar
rs1311306088	p.Pro43Arg	missense variant	-	NC_000017.11:g.58218682G>C	TOPMed,gnomAD
rs1311306088	p.Pro43Leu	missense variant	-	NC_000017.11:g.58218682G>A	TOPMed,gnomAD
rs1382730286	p.Ala45Gly	missense variant	-	NC_000017.11:g.58218676G>C	TOPMed
rs183617764	p.Glu46Lys	missense variant	-	NC_000017.11:g.58218674C>T	1000Genomes,ExAC,gnomAD
rs748133097	p.Lys49Arg	missense variant	-	NC_000017.11:g.58218664T>C	ExAC,gnomAD
rs776363123	p.Asp50Asn	missense variant	-	NC_000017.11:g.58218662C>T	ExAC,gnomAD
rs368169919	p.Leu51Phe	missense variant	-	NC_000017.11:g.58218659G>A	ESP,ExAC,gnomAD
rs746450191	p.Ile52Thr	missense variant	-	NC_000017.11:g.58218655A>G	ExAC,TOPMed,gnomAD
COSM981765	p.Leu54Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218649A>G	NCI-TCGA Cosmic
rs779521346	p.Ala55Val	missense variant	-	NC_000017.11:g.58218646G>A	ExAC,gnomAD
RCV000731630	p.Ala55Thr	missense variant	-	NC_000017.11:g.58218647C>T	ClinVar
COSM981763	p.Arg58Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218637C>A	NCI-TCGA Cosmic
rs1183027576	p.Pro59Leu	missense variant	-	NC_000017.11:g.58218634G>A	gnomAD
NCI-TCGA novel	p.Gln60Ter	stop gained	-	NC_000017.11:g.58218632G>A	NCI-TCGA
COSM4854483	p.Gln60Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218632G>T	NCI-TCGA Cosmic
rs1044692091	p.Pro61Arg	missense variant	-	NC_000017.11:g.58218628G>C	TOPMed
rs758090787	p.Thr62Ala	missense variant	-	NC_000017.11:g.58218626T>C	ExAC,TOPMed,gnomAD
RCV000050032	p.Thr62Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58218624_58218630del	ClinVar
RCV000674337	p.Thr62Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58218624_58218630del	ClinVar
rs755502660	p.Ser64Asn	missense variant	-	NC_000017.11:g.58216736C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly65Glu	missense variant	-	NC_000017.11:g.58216733C>T	NCI-TCGA
rs200340896	p.Arg67Cys	missense variant	-	NC_000017.11:g.58216728G>A	ESP,ExAC,TOPMed,gnomAD
RCV000533125	p.Arg67Cys	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216728G>A	ClinVar
rs780293222	p.Arg67His	missense variant	-	NC_000017.11:g.58216727C>T	ExAC,gnomAD
RCV000596970	p.Arg67Cys	missense variant	-	NC_000017.11:g.58216728G>A	ClinVar
rs750702019	p.Glu70Lys	missense variant	-	NC_000017.11:g.58216719C>T	ExAC,TOPMed,gnomAD
RCV000399365	p.Asp71Glu	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216714G>C	ClinVar
RCV000351197	p.Asp71Glu	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216714G>C	ClinVar
rs142813109	p.Asp71Glu	missense variant	-	NC_000017.11:g.58216714G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753620277	p.Glu72Lys	missense variant	-	NC_000017.11:g.58216713C>T	ExAC,gnomAD
RCV000668894	p.Glu72Lys	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216713C>T	ClinVar
RCV000381496	p.Glu72Lys	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216713C>T	ClinVar
RCV000296253	p.Glu72Lys	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216713C>T	ClinVar
rs775351056	p.Glu75Asp	missense variant	-	NC_000017.11:g.58216702C>G	ExAC,TOPMed,gnomAD
rs763949111	p.Glu75Lys	missense variant	-	NC_000017.11:g.58216704C>T	ExAC
rs775351056	p.Glu75Asp	missense variant	-	NC_000017.11:g.58216702C>A	ExAC,TOPMed,gnomAD
RCV000730378	p.Ile76Thr	missense variant	-	NC_000017.11:g.58216700A>G	ClinVar
rs1412560835	p.Ile76Thr	missense variant	-	NC_000017.11:g.58216700A>G	gnomAD
rs1198645467	p.Val77Met	missense variant	-	NC_000017.11:g.58216698C>T	gnomAD
rs786204222	p.Ile78Ser	missense variant	-	NC_000017.11:g.58216694A>C	gnomAD
rs786204222	p.Ile78Thr	missense variant	-	NC_000017.11:g.58216694A>G	gnomAD
RCV000665745	p.Ile78Ser	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216694A>C	ClinVar
rs759008278	p.Gly79Arg	missense variant	-	NC_000017.11:g.58216692C>T	ExAC,TOPMed,gnomAD
rs774076532	p.Gly79Val	missense variant	-	NC_000017.11:g.58216691C>A	ExAC,gnomAD
rs1114167302	p.Trp80Cys	missense variant	-	NC_000017.11:g.58216687C>A	-
rs1114167302	p.Trp80Cys	missense variant	-	NC_000017.11:g.58216687C>A	UniProt,dbSNP
VAR_077516	p.Trp80Cys	missense variant	-	NC_000017.11:g.58216687C>A	UniProt
RCV000491898	p.Trp80Cys	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216687C>A	ClinVar
rs1267743604	p.Glu82Gly	missense variant	-	NC_000017.11:g.58216682T>C	gnomAD
rs1269271727	p.Gln87Glu	missense variant	-	NC_000017.11:g.58216668G>C	gnomAD
rs886053170	p.Phe88Cys	missense variant	-	NC_000017.11:g.58216242A>C	TOPMed,gnomAD
rs886053170	p.Phe88Tyr	missense variant	-	NC_000017.11:g.58216242A>T	TOPMed,gnomAD
rs886053170	p.Phe88Ser	missense variant	-	NC_000017.11:g.58216242A>G	TOPMed,gnomAD
RCV000290521	p.Phe88Ser	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216242A>G	ClinVar
RCV000345617	p.Phe88Ser	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216242A>G	ClinVar
rs1235520151	p.Val90Ile	missense variant	-	NC_000017.11:g.58216237C>T	TOPMed
rs367668056	p.Val90Ala	missense variant	-	NC_000017.11:g.58216236A>G	ESP,ExAC,TOPMed,gnomAD
rs1404195978	p.Asp91Ala	missense variant	-	NC_000017.11:g.58216233T>G	gnomAD
RCV000514746	p.Asp91Ala	missense variant	-	NC_000017.11:g.58216233T>G	ClinVar
rs76838735	p.Gln94Lys	missense variant	-	NC_000017.11:g.58216225G>T	TOPMed
rs76838735	p.Gln94Glu	missense variant	-	NC_000017.11:g.58216225G>C	TOPMed
rs772742739	p.Gln94His	missense variant	-	NC_000017.11:g.58216223T>G	ExAC,TOPMed,gnomAD
rs1440750700	p.Ala98Val	missense variant	-	NC_000017.11:g.58216212G>A	TOPMed
rs1170310363	p.Cys99Gly	missense variant	-	NC_000017.11:g.58216210A>C	gnomAD
rs1451544203	p.Ser101Thr	missense variant	-	NC_000017.11:g.58216203C>G	gnomAD
NCI-TCGA novel	p.Pro102Leu	missense variant	-	NC_000017.11:g.58216200G>A	NCI-TCGA
COSM3520005	p.Pro102Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58216201G>A	NCI-TCGA Cosmic
rs201574278	p.Leu103Ser	missense variant	-	NC_000017.11:g.58216197A>G	ESP,ExAC,TOPMed,gnomAD
RCV000636952	p.Tyr105Ser	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216191T>G	ClinVar
rs778921113	p.Tyr105His	missense variant	-	NC_000017.11:g.58216192A>G	ExAC,TOPMed,gnomAD
rs1440792737	p.Tyr105Ser	missense variant	-	NC_000017.11:g.58216191T>G	TOPMed,gnomAD
rs1258822362	p.Gln106Arg	missense variant	-	NC_000017.11:g.58216188T>C	gnomAD
rs1168199157	p.Tyr107Ter	stop gained	-	NC_000017.11:g.58216184G>C	TOPMed
rs201476674	p.Arg108Cys	missense variant	-	NC_000017.11:g.58216183G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200331553	p.Arg108His	missense variant	-	NC_000017.11:g.58216182C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000352213	p.Arg108His	missense variant	-	NC_000017.11:g.58216182C>T	ClinVar
NCI-TCGA novel	p.Glu110Asp	missense variant	-	NC_000017.11:g.58216175C>A	NCI-TCGA
RCV000382581	p.Ile111Leu	missense variant	-	NC_000017.11:g.58216174T>G	ClinVar
rs886044605	p.Ile111Leu	missense variant	-	NC_000017.11:g.58216174T>G	gnomAD
rs886044605	p.Ile111Val	missense variant	-	NC_000017.11:g.58216174T>C	gnomAD
rs1342346516	p.Lys113Asn	missense variant	-	NC_000017.11:g.58216166C>G	gnomAD
rs777934536	p.Glu115Asp	missense variant	-	NC_000017.11:g.58216160C>A	ExAC,gnomAD
COSM3520003	p.Glu115Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58216162C>T	NCI-TCGA Cosmic
rs755927059	p.Ser117Leu	missense variant	-	NC_000017.11:g.58216155G>A	ExAC,TOPMed,gnomAD
rs1356916781	p.Gly118Arg	missense variant	-	NC_000017.11:g.58216153C>G	TOPMed
rs1312861325	p.Lys120Gln	missense variant	-	NC_000017.11:g.58216147T>G	gnomAD
rs751455442	p.Lys120Asn	missense variant	-	NC_000017.11:g.58216145C>A	ExAC,gnomAD
rs767269565	p.Lys120Arg	missense variant	-	NC_000017.11:g.58216146T>C	ExAC,gnomAD
rs765809969	p.Asn122Thr	missense variant	-	NC_000017.11:g.58216140T>G	ExAC,gnomAD
RCV000411143	p.Arg123Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216139dup	ClinVar
rs202112856	p.Arg123Gln	missense variant	-	NC_000017.11:g.58216137C>T	UniProt,dbSNP
VAR_062287	p.Arg123Gln	missense variant	-	NC_000017.11:g.58216137C>T	UniProt
rs202112856	p.Arg123Gln	missense variant	-	NC_000017.11:g.58216137C>T	ESP,ExAC,TOPMed,gnomAD
RCV000412146	p.Arg123Ter	frameshift	Joubert syndrome 28 (JBTS28)	NC_000017.11:g.58216139dup	ClinVar
RCV000409586	p.Arg123Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58216139dup	ClinVar
RCV000695608	p.Arg123Gln	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216137C>T	ClinVar
RCV000224664	p.Arg123Gln	missense variant	-	NC_000017.11:g.58216137C>T	ClinVar
rs762482919	p.Arg123Ter	stop gained	-	NC_000017.11:g.58216138G>A	ExAC,gnomAD
RCV000318559	p.Arg123Gln	missense variant	-	NC_000017.11:g.58216137C>T	ClinVar
RCV000765373	p.Arg123Gln	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216137C>T	ClinVar
RCV000778505	p.Arg124Ter	nonsense	MKS1-Related Disorders	NC_000017.11:g.58216135G>A	ClinVar
rs765026950	p.Arg124Gln	missense variant	-	NC_000017.11:g.58216134C>T	ExAC,TOPMed,gnomAD
rs990955357	p.Arg124Ter	stop gained	-	NC_000017.11:g.58216135G>A	TOPMed,gnomAD
RCV000636950	p.Arg124Gln	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216134C>T	ClinVar
rs1471955218	p.Phe126Ser	missense variant	-	NC_000017.11:g.58216128A>G	gnomAD
rs1466186233	p.Thr127Ala	missense variant	-	NC_000017.11:g.58216126T>C	gnomAD
rs776068083	p.Tyr128Cys	missense variant	-	NC_000017.11:g.58216122T>C	ExAC,gnomAD
RCV000201583	p.Tyr128Ter	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58216125del	ClinVar
rs374506610	p.Thr129Ala	missense variant	-	NC_000017.11:g.58216120T>C	ESP,ExAC,TOPMed,gnomAD
RCV000050033	p.Asp130Ter	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58216112_58216113AG[1]	ClinVar
rs747461404	p.Tyr134Cys	missense variant	-	NC_000017.11:g.58216104T>C	ExAC,gnomAD
rs1207669104	p.Asn136Asp	missense variant	-	NC_000017.11:g.58216099T>C	gnomAD
rs749341221	p.Glu138Asp	missense variant	-	NC_000017.11:g.58216091C>A	ExAC,TOPMed,gnomAD
rs1479217129	p.Cys141Tyr	missense variant	-	NC_000017.11:g.58214834C>T	gnomAD
rs200332126	p.Cys141Gly	missense variant	-	NC_000017.11:g.58214835A>C	1000Genomes,ExAC,gnomAD
rs386834049	p.Gln142Ter	stop gained	-	NC_000017.11:g.58214832G>A	-
RCV000050035	p.Gln142Ter	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58214832G>A	ClinVar
rs758424317	p.Arg143Ile	missense variant	-	NC_000017.11:g.58214828C>A	ExAC,gnomAD
rs185130897	p.Arg143Gly	missense variant	-	NC_000017.11:g.58214829T>C	1000Genomes
rs1187507531	p.Arg143Ser	missense variant	-	NC_000017.11:g.58214827T>G	gnomAD
rs1463305225	p.Thr145Asn	missense variant	-	NC_000017.11:g.58214822G>T	gnomAD
rs1249328656	p.Ala147Thr	missense variant	-	NC_000017.11:g.58214817C>T	gnomAD
rs1376838481	p.Ala147Val	missense variant	-	NC_000017.11:g.58214816G>A	TOPMed
NCI-TCGA novel	p.Ser149Asn	missense variant	-	NC_000017.11:g.58214810C>T	NCI-TCGA
rs1441703688	p.Glu150Lys	missense variant	-	NC_000017.11:g.58214808C>T	gnomAD
rs778584579	p.Val151Ala	missense variant	-	NC_000017.11:g.58214804A>G	ExAC,TOPMed,gnomAD
rs1220688429	p.Pro152His	missense variant	-	NC_000017.11:g.58214801G>T	gnomAD
rs903778224	p.Ser153Ter	stop gained	-	NC_000017.11:g.58214798G>T	TOPMed,gnomAD
rs753579811	p.Phe154Ser	missense variant	-	NC_000017.11:g.58214795A>G	ExAC,TOPMed,gnomAD
rs576624384	p.Phe154Leu	missense variant	-	NC_000017.11:g.58214796A>G	1000Genomes,ExAC,gnomAD
rs1431579746	p.Val156Asp	missense variant	-	NC_000017.11:g.58214789A>T	TOPMed,gnomAD
rs200970148	p.Glu157Lys	missense variant	-	NC_000017.11:g.58214787C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766648988	p.Glu157Gly	missense variant	-	NC_000017.11:g.58214786T>C	ExAC,TOPMed,gnomAD
RCV000397736	p.Glu157Lys	missense variant	-	NC_000017.11:g.58214787C>T	ClinVar
RCV000814394	p.Glu157Lys	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58214787C>T	ClinVar
rs386834050	p.Arg158Ter	stop gained	-	NC_000017.11:g.58214784G>A	ExAC,gnomAD
RCV000760436	p.Arg158Ter	nonsense	-	NC_000017.11:g.58214784G>A	ClinVar
rs373471917	p.Arg158Gln	missense variant	-	NC_000017.11:g.58214783C>T	ESP,ExAC,TOPMed,gnomAD
rs373471917	p.Arg158Leu	missense variant	-	NC_000017.11:g.58214783C>A	ESP,ExAC,TOPMed,gnomAD
rs370013310	p.Met159Thr	missense variant	-	NC_000017.11:g.58214780A>G	ESP,ExAC,gnomAD
rs761830955	p.Ala160Thr	missense variant	-	NC_000017.11:g.58214778C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn161Lys	missense variant	-	NC_000017.11:g.58214773A>C	NCI-TCGA
rs776666925	p.Asn161Asp	missense variant	-	NC_000017.11:g.58214775T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg163Met	missense variant	-	NC_000017.11:g.58214768C>A	NCI-TCGA
rs200149256	p.Arg164His	missense variant	-	NC_000017.11:g.58214765C>T	ESP,ExAC,TOPMed,gnomAD
COSM1384673	p.Arg164Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214766G>T	NCI-TCGA Cosmic
rs370568445	p.Arg164Cys	missense variant	-	NC_000017.11:g.58214766G>A	ExAC,TOPMed,gnomAD
RCV000384944	p.Arg164His	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58214765C>T	ClinVar
RCV000730592	p.Arg164His	missense variant	-	NC_000017.11:g.58214765C>T	ClinVar
RCV000321171	p.Arg164His	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58214765C>T	ClinVar
RCV000675062	p.Arg165Cys	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214763G>A	ClinVar
rs779953982	p.Arg165Cys	missense variant	-	NC_000017.11:g.58214763G>A	ExAC,TOPMed,gnomAD
rs771709346	p.Arg165His	missense variant	-	NC_000017.11:g.58214762C>T	ExAC,TOPMed,gnomAD
rs201845154	p.Arg166Trp	missense variant	-	NC_000017.11:g.58214760G>A	ESP,ExAC,TOPMed,gnomAD
rs201845154	p.Arg166Trp	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58214760G>A	UniProt,dbSNP
VAR_062288	p.Arg166Trp	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58214760G>A	UniProt
rs1050543850	p.Arg166Gln	missense variant	-	NC_000017.11:g.58214759C>T	TOPMed,gnomAD
RCV000283742	p.Arg166Trp	missense variant	-	NC_000017.11:g.58214760G>A	ClinVar
rs1215189491	p.Gln167Lys	missense variant	-	NC_000017.11:g.58214757G>T	gnomAD
rs369388608	p.Arg170Gln	missense variant	-	NC_000017.11:g.58214747C>T	ESP,ExAC,TOPMed,gnomAD
RCV000224251	p.Arg170Ter	nonsense	-	NC_000017.11:g.58214748G>A	ClinVar
RCV000668874	p.Arg170Ter	nonsense	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214748G>A	ClinVar
RCV000283022	p.Arg170Gln	missense variant	-	NC_000017.11:g.58214747C>T	ClinVar
rs756853299	p.Arg170Ter	stop gained	-	NC_000017.11:g.58214748G>A	ExAC,TOPMed,gnomAD
rs527350238	p.Gly175Val	missense variant	-	NC_000017.11:g.58214379C>A	1000Genomes,ExAC,gnomAD
rs754601373	p.Gly175Ser	missense variant	-	NC_000017.11:g.58214380C>T	ExAC,TOPMed,gnomAD
rs145764409	p.Arg180Leu	missense variant	-	NC_000017.11:g.58214364C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs145764409	p.Arg180His	missense variant	-	NC_000017.11:g.58214364C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs559966703	p.Arg180Cys	missense variant	-	NC_000017.11:g.58214365G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000732564	p.Arg180Cys	missense variant	-	NC_000017.11:g.58214365G>A	ClinVar
RCV000502261	p.Arg180Cys	missense variant	-	NC_000017.11:g.58214365G>A	ClinVar
RCV000591184	p.Ile181Val	missense variant	-	NC_000017.11:g.58214362T>C	ClinVar
rs764242484	p.Ile181Val	missense variant	-	NC_000017.11:g.58214362T>C	ExAC,gnomAD
rs764242484	p.Ile181Leu	missense variant	-	NC_000017.11:g.58214362T>G	ExAC,gnomAD
rs200185068	p.Val182Ile	missense variant	-	NC_000017.11:g.58214359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000728102	p.Val182Ile	missense variant	-	NC_000017.11:g.58214359C>T	ClinVar
RCV000765372	p.Val182Ile	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214359C>T	ClinVar
RCV000226628	p.Val182Ile	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58214359C>T	ClinVar
rs775805558	p.Thr183Ser	missense variant	-	NC_000017.11:g.58214355G>C	ExAC,TOPMed,gnomAD
rs775805558	p.Thr183Ile	missense variant	-	NC_000017.11:g.58214355G>A	ExAC,TOPMed,gnomAD
rs373755286	p.Glu185Lys	missense variant	-	NC_000017.11:g.58214350C>T	ESP,ExAC,gnomAD
rs1423275977	p.Glu189Gly	missense variant	-	NC_000017.11:g.58214337T>C	gnomAD
COSM262029	p.Glu189Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58214338C>A	NCI-TCGA Cosmic
rs1195695177	p.Phe190Ile	missense variant	-	NC_000017.11:g.58214335A>T	gnomAD
rs1469110340	p.Val191Ile	missense variant	-	NC_000017.11:g.58214332C>T	gnomAD
rs1474687527	p.Val191Asp	missense variant	-	NC_000017.11:g.58214331A>T	TOPMed
COSM3820060	p.Arg192Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214327C>G	NCI-TCGA Cosmic
RCV000592910	p.Asn193Lys	missense variant	-	NC_000017.11:g.58214324G>C	ClinVar
rs1206983556	p.Asn193Lys	missense variant	-	NC_000017.11:g.58214324G>C	gnomAD
rs1206983556	p.Asn193Lys	missense variant	-	NC_000017.11:g.58214324G>T	gnomAD
rs759802849	p.Asn194Asp	missense variant	-	NC_000017.11:g.58214323T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn194Lys	missense variant	-	NC_000017.11:g.58214321G>T	NCI-TCGA
COSM4068102	p.Asn194Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214322T>C	NCI-TCGA Cosmic
COSM6147122	p.Val196Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214317C>G	NCI-TCGA Cosmic
rs140677541	p.Val196Ile	missense variant	-	NC_000017.11:g.58214317C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ile197Thr	missense variant	-	NC_000017.11:g.58214313A>G	NCI-TCGA
rs1441531378	p.Thr199Ser	missense variant	-	NC_000017.11:g.58214307G>C	gnomAD
COSM5172495	p.Pro200LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58214304G>-	NCI-TCGA Cosmic
rs1303915727	p.Met204Val	missense variant	-	NC_000017.11:g.58214293T>C	gnomAD
rs1186426432	p.His205Arg	missense variant	-	NC_000017.11:g.58214289T>C	TOPMed
rs772982926	p.Ile206Met	missense variant	-	NC_000017.11:g.58214285G>C	ExAC,TOPMed,gnomAD
COSM4068100	p.Ala208Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214281C>T	NCI-TCGA Cosmic
rs1022156989	p.Gly211Glu	missense variant	-	NC_000017.11:g.58214271C>T	TOPMed
rs747659750	p.Pro212Thr	missense variant	-	NC_000017.11:g.58214269G>T	ExAC,TOPMed
COSM3519999	p.Pro212Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214268G>A	NCI-TCGA Cosmic
rs780721543	p.Tyr213Asp	missense variant	-	NC_000017.11:g.58214266A>C	ExAC
rs754689401	p.Tyr213Cys	missense variant	-	NC_000017.11:g.58214265T>C	ExAC,TOPMed,gnomAD
rs1302221349	p.Lys214Glu	missense variant	-	NC_000017.11:g.58214263T>C	gnomAD
rs201758855	p.Tyr218Cys	missense variant	-	NC_000017.11:g.58213861T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201758855	p.Tyr218Ser	missense variant	-	NC_000017.11:g.58213861T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776172667	p.His223Tyr	missense variant	-	NC_000017.11:g.58213847G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu225Met	missense variant	-	NC_000017.11:g.58213841G>T	NCI-TCGA
RCV000728705	p.Val230Leu	missense variant	-	NC_000017.11:g.58213826C>A	ClinVar
rs1422512368	p.Ser232Thr	missense variant	-	NC_000017.11:g.58213819C>G	gnomAD
rs1413306907	p.Gly234Ala	missense variant	-	NC_000017.11:g.58213813C>G	TOPMed
rs746666115	p.Gly234Cys	missense variant	-	NC_000017.11:g.58213814C>A	ExAC,gnomAD
rs746666115	p.Gly234Ser	missense variant	-	NC_000017.11:g.58213814C>T	ExAC,gnomAD
rs557691735	p.Val235Ala	missense variant	-	NC_000017.11:g.58213810A>G	1000Genomes,gnomAD
COSM3672520	p.Ile236Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58213806G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val238Ile	missense variant	-	NC_000017.11:g.58213802C>T	NCI-TCGA
rs376785849	p.Val238Gly	missense variant	-	NC_000017.11:g.58213801A>C	ESP,ExAC,gnomAD
rs1378969681	p.Lys239Asn	missense variant	-	NC_000017.11:g.58213797C>G	gnomAD
rs771310059	p.Pro240His	missense variant	-	NC_000017.11:g.58213795G>T	ExAC,gnomAD
rs1293228274	p.Phe242Leu	missense variant	-	NC_000017.11:g.58213788G>T	TOPMed
rs749668169	p.Thr243Met	missense variant	-	NC_000017.11:g.58213786G>A	ExAC,gnomAD
rs1197155331	p.Thr243Ser	missense variant	-	NC_000017.11:g.58213787T>A	gnomAD
rs1357229502	p.Lys246Arg	missense variant	-	NC_000017.11:g.58213777T>C	gnomAD
rs1472853273	p.Arg250Gly	missense variant	-	NC_000017.11:g.58213766T>C	gnomAD
rs1326729220	p.Glu252Lys	missense variant	-	NC_000017.11:g.58213086C>T	gnomAD
rs778058178	p.Thr253Met	missense variant	-	NC_000017.11:g.58213082G>A	ExAC,TOPMed,gnomAD
rs745531071	p.Thr253Ala	missense variant	-	NC_000017.11:g.58213083T>C	ExAC,TOPMed,gnomAD
rs201237547	p.Gly255Arg	missense variant	-	NC_000017.11:g.58213077C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201237547	p.Gly255Trp	missense variant	-	NC_000017.11:g.58213077C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000299237	p.Gly255Trp	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58213077C>A	ClinVar
RCV000657869	p.Gly255Arg	missense variant	-	NC_000017.11:g.58213077C>G	ClinVar
RCV000695711	p.Gly255Arg	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58213077C>G	ClinVar
rs201237547	p.Gly255Arg	missense variant	-	NC_000017.11:g.58213077C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000354135	p.Gly255Trp	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58213077C>A	ClinVar
rs780276924	p.Glu256Lys	missense variant	-	NC_000017.11:g.58213074C>T	ExAC,gnomAD
RCV000201675	p.Glu256Ter	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58213072_58213073insG	ClinVar
rs1253067181	p.Lys257Arg	missense variant	-	NC_000017.11:g.58213070T>C	gnomAD
rs1463443114	p.Gln258Lys	missense variant	-	NC_000017.11:g.58213068G>T	gnomAD
rs1286284943	p.Gln258Arg	missense variant	-	NC_000017.11:g.58213067T>C	gnomAD
rs1182924920	p.Leu260Pro	missense variant	-	NC_000017.11:g.58213061A>G	TOPMed
rs1285966721	p.Trp261Ter	stop gained	-	NC_000017.11:g.58213057C>T	gnomAD
rs1224092160	p.Trp261Arg	missense variant	-	NC_000017.11:g.58213059A>G	gnomAD
rs561482424	p.Thr264Met	missense variant	-	NC_000017.11:g.58213049G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764943455	p.Asp266Asn	missense variant	-	NC_000017.11:g.58213044C>T	ExAC,gnomAD
rs1355030646	p.Asn267Asp	missense variant	-	NC_000017.11:g.58213041T>C	gnomAD
rs757032985	p.Asn267Ser	missense variant	-	NC_000017.11:g.58213040T>C	ExAC,TOPMed,gnomAD
rs935450030	p.Ser269Phe	missense variant	-	NC_000017.11:g.58213034G>A	TOPMed,gnomAD
rs368751106	p.Pro270His	missense variant	-	NC_000017.11:g.58213031G>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Pro270Leu	missense variant	-	NC_000017.11:g.58213031G>A	NCI-TCGA
rs201961765	p.His271Gln	missense variant	-	NC_000017.11:g.58213027G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201771125	p.His271Asn	missense variant	-	NC_000017.11:g.58213029G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201771125	p.His271Tyr	missense variant	-	NC_000017.11:g.58213029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201771125	p.His271Asp	missense variant	-	NC_000017.11:g.58213029G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000725357	p.His271Asn	missense variant	-	NC_000017.11:g.58213029G>T	ClinVar
RCV000203095	p.His271Asn	missense variant	-	NC_000017.11:g.58213029G>T	ClinVar
RCV000264989	p.Ala272Thr	missense variant	-	NC_000017.11:g.58213026C>T	ClinVar
rs886044205	p.Ala272Thr	missense variant	-	NC_000017.11:g.58213026C>T	TOPMed,gnomAD
rs770088105	p.Pro274Leu	missense variant	-	NC_000017.11:g.58213019G>A	ExAC,TOPMed,gnomAD
rs777103638	p.Glu275Lys	missense variant	-	NC_000017.11:g.58213017C>T	ExAC,gnomAD
rs1555599412	p.Glu277Ter	stop gained	-	NC_000017.11:g.58213011C>A	-
RCV000701980	p.Glu277Ter	nonsense	Joubert syndrome (JBTS)	NC_000017.11:g.58213011C>A	ClinVar
NCI-TCGA novel	p.Glu277Lys	missense variant	-	NC_000017.11:g.58213011C>T	NCI-TCGA
rs911132717	p.Glu278Lys	missense variant	-	NC_000017.11:g.58213008C>T	TOPMed
rs189255737	p.Arg279Trp	missense variant	-	NC_000017.11:g.58213005G>A	1000Genomes,ExAC,TOPMed
rs747504986	p.Arg279Gln	missense variant	-	NC_000017.11:g.58213004C>T	ExAC,gnomAD
rs1406421081	p.Glu280Asp	missense variant	-	NC_000017.11:g.58213000T>G	TOPMed,gnomAD
rs794727927	p.Arg281Pro	missense variant	-	NC_000017.11:g.58212998C>G	-
rs780007842	p.Arg281Trp	missense variant	-	NC_000017.11:g.58212999G>A	ExAC,TOPMed,gnomAD
RCV000180343	p.Arg281Pro	missense variant	-	NC_000017.11:g.58212998C>G	ClinVar
COSM1384672	p.Arg281Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212998C>T	NCI-TCGA Cosmic
rs184444815	p.Arg282Gln	missense variant	-	NC_000017.11:g.58212995C>T	1000Genomes,ExAC,gnomAD
COSM6081354	p.Arg282Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212995C>G	NCI-TCGA Cosmic
rs797045706	p.Arg282Ter	stop gained	-	NC_000017.11:g.58212996G>A	TOPMed
RCV000672938	p.Arg282Ter	nonsense	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58212996G>A	ClinVar
rs779149583	p.Lys285Gln	missense variant	-	NC_000017.11:g.58212987T>G	ExAC,gnomAD
rs1350256761	p.Lys285Arg	missense variant	-	NC_000017.11:g.58212986T>C	TOPMed,gnomAD
RCV000664898	p.Asp286Gly	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58212983T>C	ClinVar
RCV000690393	p.Asp286Gly	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58212983T>C	ClinVar
RCV000514949	p.Asp286Gly	missense variant	-	NC_000017.11:g.58212983T>C	ClinVar
rs151023718	p.Asp286Gly	missense variant	-	NC_000017.11:g.58212983T>C	UniProt,dbSNP
VAR_062289	p.Asp286Gly	missense variant	-	NC_000017.11:g.58212983T>C	UniProt
rs151023718	p.Asp286Gly	missense variant	-	NC_000017.11:g.58212983T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755916212	p.Leu287Phe	missense variant	-	NC_000017.11:g.58212434G>A	-
rs755840522	p.Arg290Gln	missense variant	-	NC_000017.11:g.58212424C>T	ExAC,TOPMed,gnomAD
rs777558323	p.Arg290Trp	missense variant	-	NC_000017.11:g.58212425G>A	ExAC,TOPMed,gnomAD
RCV000595372	p.Arg290Trp	missense variant	-	NC_000017.11:g.58212425G>A	ClinVar
rs201845569	p.Lys292Glu	missense variant	-	NC_000017.11:g.58212419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1170460125	p.Lys292Arg	missense variant	-	NC_000017.11:g.58212418T>C	gnomAD
RCV000725913	p.Lys292Glu	missense variant	-	NC_000017.11:g.58212419T>C	ClinVar
COSM3820058	p.Leu295Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212410G>A	NCI-TCGA Cosmic
rs1450226855	p.Ser297Gly	missense variant	-	NC_000017.11:g.58212404T>C	TOPMed
rs78774579	p.Leu298Phe	missense variant	-	NC_000017.11:g.58212401G>A	ESP,gnomAD
rs751146857	p.Val299Ile	missense variant	-	NC_000017.11:g.58212398C>T	ExAC,gnomAD
rs765793774	p.Val299Ala	missense variant	-	NC_000017.11:g.58212397A>G	ExAC,gnomAD
RCV000501116	p.Thr301Ser	missense variant	-	NC_000017.11:g.58212391G>C	ClinVar
rs1555599203	p.Thr301Ser	missense variant	-	NC_000017.11:g.58212391G>C	-
RCV000705080	p.Asp302Asn	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58212389C>T	ClinVar
rs750025608	p.Asp302Asn	missense variant	-	NC_000017.11:g.58212389C>T	ExAC,TOPMed,gnomAD
RCV000658227	p.Asp302Asn	missense variant	-	NC_000017.11:g.58212389C>T	ClinVar
NCI-TCGA novel	p.Glu304Gln	missense variant	-	NC_000017.11:g.58212383C>G	NCI-TCGA
rs761070122	p.Met305Ile	missense variant	-	NC_000017.11:g.58212378C>T	ExAC,gnomAD
RCV000731838	p.Thr306Ile	missense variant	-	NC_000017.11:g.58211021G>A	ClinVar
rs761528251	p.Thr306Ala	missense variant	-	NC_000017.11:g.58211022T>C	ExAC,gnomAD
rs1304907848	p.Leu311His	missense variant	-	NC_000017.11:g.58211006A>T	gnomAD
rs369483945	p.Arg312Leu	missense variant	-	NC_000017.11:g.58211003C>A	ESP,ExAC,gnomAD
rs369483945	p.Arg312Pro	missense variant	-	NC_000017.11:g.58211003C>G	ESP,ExAC,gnomAD
rs369483945	p.Arg312Gln	missense variant	-	NC_000017.11:g.58211003C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg312GlyPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.58211005_58211006insCCCC	NCI-TCGA
rs767763740	p.Arg312Trp	missense variant	-	NC_000017.11:g.58211004G>A	ExAC,TOPMed,gnomAD
rs771030303	p.Val315Glu	missense variant	-	NC_000017.11:g.58210994A>T	ExAC,gnomAD
rs774654581	p.Val315Ile	missense variant	-	NC_000017.11:g.58210995C>T	ExAC,gnomAD
rs774654581	p.Val315Leu	missense variant	-	NC_000017.11:g.58210995C>A	ExAC,gnomAD
RCV000201588	p.Gly317Glu	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58210988C>T	ClinVar
rs863225208	p.Gly317Glu	missense variant	-	NC_000017.11:g.58210988C>T	-
rs863225208	p.Gly317Glu	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58210988C>T	UniProt,dbSNP
VAR_077517	p.Gly317Glu	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58210988C>T	UniProt
rs762973500	p.Glu318Gly	missense variant	-	NC_000017.11:g.58210985T>C	ExAC,gnomAD
rs773255938	p.Glu318Asp	missense variant	-	NC_000017.11:g.58210984C>A	ExAC,gnomAD
rs1393510784	p.Val319Phe	missense variant	-	NC_000017.11:g.58210983C>A	TOPMed,gnomAD
rs1393510784	p.Val319Ile	missense variant	-	NC_000017.11:g.58210983C>T	TOPMed,gnomAD
rs386834053	p.Val320Ile	missense variant	-	NC_000017.11:g.58210980C>T	ExAC,TOPMed,gnomAD
RCV000735097	p.Val320Ile	missense variant	-	NC_000017.11:g.58210980C>T	ClinVar
COSM1303100	p.Ser321Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58210721G>A	NCI-TCGA Cosmic
rs776673480	p.Gly324Asp	missense variant	-	NC_000017.11:g.58210712C>T	ExAC,gnomAD
rs991364235	p.Tyr325Cys	missense variant	-	NC_000017.11:g.58210709T>C	TOPMed
rs768515749	p.Glu326Gly	missense variant	-	NC_000017.11:g.58210706T>C	ExAC,gnomAD
rs1211138175	p.Asp328Gly	missense variant	-	NC_000017.11:g.58210700T>C	gnomAD
rs1211138175	p.Asp328Val	missense variant	-	NC_000017.11:g.58210700T>A	gnomAD
rs775391594	p.Val332Phe	missense variant	-	NC_000017.11:g.58210689C>A	ExAC,TOPMed,gnomAD
rs775391594	p.Val332Ile	missense variant	-	NC_000017.11:g.58210689C>T	ExAC,TOPMed,gnomAD
RCV000174135	p.Val332Ile	missense variant	-	NC_000017.11:g.58210689C>T	ClinVar
NCI-TCGA novel	p.His333Asn	missense variant	-	NC_000017.11:g.58210686G>T	NCI-TCGA
rs772205041	p.Val336Glu	missense variant	-	NC_000017.11:g.58210676A>T	ExAC,gnomAD
rs772205041	p.Val336Ala	missense variant	-	NC_000017.11:g.58210676A>G	ExAC,gnomAD
rs1332731542	p.Glu337Gly	missense variant	-	NC_000017.11:g.58210673T>C	TOPMed,gnomAD
rs745789469	p.Glu337Lys	missense variant	-	NC_000017.11:g.58210674C>T	ExAC,TOPMed,gnomAD
rs1178977255	p.Thr340Ala	missense variant	-	NC_000017.11:g.58210665T>C	TOPMed
rs1357107885	p.His342Tyr	missense variant	-	NC_000017.11:g.58210659G>A	gnomAD
rs567026924	p.Trp343Ter	stop gained	-	NC_000017.11:g.58208580C>T	1000Genomes,ExAC,gnomAD
rs567026924	p.Trp343Ser	missense variant	-	NC_000017.11:g.58208580C>G	1000Genomes,ExAC,gnomAD
rs760971749	p.Ser344Ter	stop gained	-	NC_000017.11:g.58208577G>C	ExAC,gnomAD
RCV000593017	p.Pro346Ser	missense variant	-	NC_000017.11:g.58208572G>A	ClinVar
rs538164532	p.Pro346Ser	missense variant	-	NC_000017.11:g.58208572G>A	-
rs375559691	p.Gln349Arg	missense variant	-	NC_000017.11:g.58208562T>C	ESP,TOPMed
rs386834041	p.Gln350Glu	missense variant	-	NC_000017.11:g.58208560G>C	-
rs386834041	p.Gln350Ter	stop gained	-	NC_000017.11:g.58208560G>A	-
RCV000050026	p.Gln350Glu	missense variant	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58208560G>C	ClinVar
RCV000050027	p.Gln350Ter	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58208560G>A	ClinVar
RCV000520954	p.Ser352Leu	missense variant	-	NC_000017.11:g.58208553G>A	ClinVar
rs1293609717	p.Ser352Leu	missense variant	-	NC_000017.11:g.58208553G>A	TOPMed,gnomAD
rs771939064	p.Gly353Glu	missense variant	-	NC_000017.11:g.58208550C>T	ExAC,TOPMed,gnomAD
COSM3672518	p.Val354Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58208547A>C	NCI-TCGA Cosmic
rs1268138960	p.Val354Leu	missense variant	-	NC_000017.11:g.58208548C>A	TOPMed
rs745809472	p.Thr355Ala	missense variant	-	NC_000017.11:g.58208545T>C	ExAC,gnomAD
RCV000665282	p.Thr355Ala	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58208545T>C	ClinVar
RCV000256424	p.Gln356Ter	nonsense	Meckel-Gruber syndrome	NC_000017.11:g.58208542G>A	ClinVar
rs786205508	p.Gln356Ter	stop gained	-	NC_000017.11:g.58208542G>A	-
rs774391311	p.Thr357Ile	missense variant	-	NC_000017.11:g.58208538G>A	ExAC,gnomAD
rs1397280567	p.Thr359Ile	missense variant	-	NC_000017.11:g.58208532G>A	gnomAD
rs770497568	p.Thr360Ala	missense variant	-	NC_000017.11:g.58208530T>C	ExAC,TOPMed,gnomAD
COSM3421723	p.Ser362Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58208523G>A	NCI-TCGA Cosmic
VAR_076978	p.Ser362del	inframe_deletion	Joubert syndrome 28 (JBTS28) [MIM:617121]	-	UniProt
NCI-TCGA novel	p.Ala364Val	missense variant	-	NC_000017.11:g.58208517G>A	NCI-TCGA
rs769389013	p.Ala364Pro	missense variant	-	NC_000017.11:g.58208518C>G	ExAC,gnomAD
rs750926734	p.Met365Val	missense variant	-	NC_000017.11:g.58208515T>C	-
rs1440032995	p.Met365Ile	missense variant	-	NC_000017.11:g.58208513C>G	TOPMed
rs1374437999	p.Asp366Glu	missense variant	-	NC_000017.11:g.58208172G>T	TOPMed,gnomAD
rs1374437999	p.Asp366Glu	missense variant	-	NC_000017.11:g.58208172G>C	TOPMed,gnomAD
rs1192776278	p.Lys367Asn	missense variant	-	NC_000017.11:g.58208169C>G	TOPMed
rs762800635	p.Val368Met	missense variant	-	NC_000017.11:g.58208168C>T	ExAC
rs1171331449	p.His370Gln	missense variant	-	NC_000017.11:g.58208160G>T	TOPMed,gnomAD
rs985013363	p.His370Pro	missense variant	-	NC_000017.11:g.58208161T>G	TOPMed
rs950609840	p.Phe371Leu	missense variant	-	NC_000017.11:g.58208157G>T	TOPMed,gnomAD
RCV000595148	p.Phe371Leu	missense variant	-	NC_000017.11:g.58208157G>T	ClinVar
VAR_062290	p.Phe371del	inframe_deletion	Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]	-	UniProt
rs1433377596	p.Ser372Phe	missense variant	-	NC_000017.11:g.58208155G>A	TOPMed
VAR_077518	p.Ser372del	inframe_deletion	Meckel syndrome 1 (MKS1) [MIM:249000]	-	UniProt
RCV000311270	p.Pro374Ser	missense variant	-	NC_000017.11:g.58208150G>A	ClinVar
rs886044314	p.Pro374Ser	missense variant	-	NC_000017.11:g.58208150G>A	-
rs773157492	p.Pro374Leu	missense variant	-	NC_000017.11:g.58208149G>A	ExAC,TOPMed,gnomAD
rs773157492	p.Pro374Arg	missense variant	-	NC_000017.11:g.58208149G>C	ExAC,TOPMed,gnomAD
rs769312467	p.Phe375Ile	missense variant	-	NC_000017.11:g.58208147A>T	ExAC,gnomAD
rs200350173	p.Thr376Met	missense variant	-	NC_000017.11:g.58208143G>A	ExAC,gnomAD
rs1298053966	p.Phe377Ile	missense variant	-	NC_000017.11:g.58208141A>T	TOPMed
COSM5106438	p.Phe377LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58208139A>-	NCI-TCGA Cosmic
rs774595103	p.Phe380Val	missense variant	-	NC_000017.11:g.58208132A>C	ExAC,gnomAD
rs771262017	p.Leu382Phe	missense variant	-	NC_000017.11:g.58208126G>A	ExAC,gnomAD
rs1337963181	p.His383Arg	missense variant	-	NC_000017.11:g.58208122T>C	gnomAD
rs1401192823	p.Ser388Cys	missense variant	-	NC_000017.11:g.58208107G>C	gnomAD
rs1272465940	p.Ser388Pro	missense variant	-	NC_000017.11:g.58208108A>G	gnomAD
rs373004412	p.Asp389Val	missense variant	-	NC_000017.11:g.58208001T>A	ESP,TOPMed
rs1278555332	p.Ala390Thr	missense variant	-	NC_000017.11:g.58207999C>T	gnomAD
rs1007977525	p.Ala390Val	missense variant	-	NC_000017.11:g.58207998G>A	TOPMed
RCV000666000	p.Pro392Leu	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207992G>A	ClinVar
rs1439633228	p.Pro392Ala	missense variant	-	NC_000017.11:g.58207993G>C	gnomAD
RCV000204612	p.Pro392Leu	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58207992G>A	ClinVar
rs763534380	p.Pro392Leu	missense variant	-	NC_000017.11:g.58207992G>A	ExAC,TOPMed,gnomAD
rs1422032983	p.Glu393Asp	missense variant	-	NC_000017.11:g.58207988C>A	TOPMed
rs889084910	p.Trp394Cys	missense variant	-	NC_000017.11:g.58207985C>A	TOPMed
RCV000174784	p.Cys399Ser	missense variant	-	NC_000017.11:g.58207971C>G	ClinVar
rs144764478	p.Cys399Phe	missense variant	-	NC_000017.11:g.58207971C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144764478	p.Cys399Ser	missense variant	-	NC_000017.11:g.58207971C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144764478	p.Cys399Tyr	missense variant	-	NC_000017.11:g.58207971C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166766268	p.Val401Ile	missense variant	-	NC_000017.11:g.58207966C>T	gnomAD
RCV000504478	p.Leu402Phe	missense variant	-	NC_000017.11:g.58207963G>A	ClinVar
rs1295464168	p.Leu402Pro	missense variant	-	NC_000017.11:g.58207962A>G	TOPMed
rs1555597681	p.Leu402Phe	missense variant	-	NC_000017.11:g.58207963G>A	-
RCV000479872	p.Ser403Leu	missense variant	-	NC_000017.11:g.58207959G>A	ClinVar
rs773684291	p.Ser403Trp	missense variant	-	NC_000017.11:g.58207959G>C	ExAC,TOPMed,gnomAD
rs773684291	p.Ser403Leu	missense variant	-	NC_000017.11:g.58207959G>A	ExAC,TOPMed,gnomAD
rs1240101157	p.Asp405Glu	missense variant	-	NC_000017.11:g.58207952G>T	TOPMed,gnomAD
rs372554696	p.Asp405Asn	missense variant	-	NC_000017.11:g.58207954C>T	1000Genomes,ExAC,gnomAD
RCV000598192	p.Asp405Asn	missense variant	-	NC_000017.11:g.58207954C>T	ClinVar
rs1468389010	p.Trp407Arg	missense variant	-	NC_000017.11:g.58207948A>G	gnomAD
rs781423785	p.Gln408Ter	stop gained	-	NC_000017.11:g.58207945G>A	ExAC,gnomAD
rs774267957	p.Tyr410Phe	missense variant	-	NC_000017.11:g.58207938T>A	ExAC,TOPMed,gnomAD
rs774267957	p.Tyr410Cys	missense variant	-	NC_000017.11:g.58207938T>C	ExAC,TOPMed,gnomAD
rs201036775	p.Arg411Cys	missense variant	-	NC_000017.11:g.58207936G>A	1000Genomes,TOPMed,gnomAD
rs200679238	p.Arg411His	missense variant	-	NC_000017.11:g.58207935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200679238	p.Arg411Pro	missense variant	-	NC_000017.11:g.58207935C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1178459205	p.Gly414Ser	missense variant	-	NC_000017.11:g.58207927C>T	TOPMed
rs765002709	p.Tyr415Cys	missense variant	-	NC_000017.11:g.58207923T>C	ExAC,TOPMed,gnomAD
RCV000732371	p.Ala417Ter	frameshift	-	NC_000017.11:g.58207921del	ClinVar
rs886053169	p.Val418Ala	missense variant	-	NC_000017.11:g.58207914A>G	-
rs1555597614	p.Val418Met	missense variant	-	NC_000017.11:g.58207915C>T	-
RCV000594309	p.Val418Met	missense variant	-	NC_000017.11:g.58207915C>T	ClinVar
RCV000401138	p.Val418Ala	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207914A>G	ClinVar
RCV000307167	p.Val418Ala	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207914A>G	ClinVar
RCV000201767	p.Pro421Ser	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58207906G>A	ClinVar
rs863225210	p.Pro421Ser	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58207906G>A	UniProt,dbSNP
VAR_077520	p.Pro421Ser	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58207906G>A	UniProt
rs863225210	p.Pro421Ser	missense variant	-	NC_000017.11:g.58207906G>A	-
rs1327805521	p.Ala422Thr	missense variant	-	NC_000017.11:g.58207903C>T	gnomAD
rs763627565	p.Thr423Ala	missense variant	-	NC_000017.11:g.58207900T>C	ExAC,TOPMed,gnomAD
rs760184188	p.Thr423Ile	missense variant	-	NC_000017.11:g.58207899G>A	ExAC,gnomAD
RCV000674523	p.Thr423Ile	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207899G>A	ClinVar
rs774840755	p.Gly425Arg	missense variant	-	NC_000017.11:g.58207894C>G	ExAC,gnomAD
rs141741656	p.His427Tyr	missense variant	-	NC_000017.11:g.58207213G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1211784754	p.Thr428Ser	missense variant	-	NC_000017.11:g.58207210T>A	gnomAD
rs759662552	p.Ser432Pro	missense variant	-	NC_000017.11:g.58207198A>G	ExAC,gnomAD
rs774384333	p.Ser432Phe	missense variant	-	NC_000017.11:g.58207197G>A	ExAC,gnomAD
rs755841031	p.Thr433Met	missense variant	-	NC_000017.11:g.58207194G>A	ExAC,TOPMed,gnomAD
RCV000593432	p.Thr433Met	missense variant	-	NC_000017.11:g.58207194G>A	ClinVar
NCI-TCGA novel	p.Pro436His	missense variant	-	NC_000017.11:g.58207185G>T	NCI-TCGA
RCV000299650	p.Val437Leu	missense variant	-	NC_000017.11:g.58207183C>G	ClinVar
rs886043544	p.Val437Leu	missense variant	-	NC_000017.11:g.58207183C>G	-
rs1325790652	p.Leu439Pro	missense variant	-	NC_000017.11:g.58207176A>G	gnomAD
COSM4068090	p.Gly440Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58207173C>T	NCI-TCGA Cosmic
rs773075697	p.Gly440Ser	missense variant	-	NC_000017.11:g.58207174C>T	ExAC,gnomAD
rs367625961	p.Thr441Met	missense variant	-	NC_000017.11:g.58207170G>A	ExAC,TOPMed,gnomAD
RCV000346858	p.Thr441Met	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207170G>A	ClinVar
RCV000592032	p.Thr441Met	missense variant	-	NC_000017.11:g.58207170G>A	ClinVar
RCV000291999	p.Thr441Met	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207170G>A	ClinVar
rs754930606	p.Val442Gly	missense variant	-	NC_000017.11:g.58207167A>C	ExAC,gnomAD
rs1419374595	p.Ala443Val	missense variant	-	NC_000017.11:g.58207164G>A	TOPMed
RCV000729379	p.Arg447Ser	missense variant	-	NC_000017.11:g.58207151C>G	ClinVar
rs779697924	p.Arg447Lys	missense variant	-	NC_000017.11:g.58207152C>T	ExAC,gnomAD
rs1294257326	p.Arg447Ser	missense variant	-	NC_000017.11:g.58207151C>G	gnomAD
RCV000733094	p.Phe448Cys	missense variant	-	NC_000017.11:g.58207149A>C	ClinVar
rs1191657102	p.Phe449Leu	missense variant	-	NC_000017.11:g.58207147A>G	gnomAD
NCI-TCGA novel	p.Phe449Leu	missense variant	-	NC_000017.11:g.58207145G>T	NCI-TCGA
rs200865108	p.Ile450Thr	missense variant	-	NC_000017.11:g.58207143A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200865108	p.Ile450Thr	missense variant	-	NC_000017.11:g.58207143A>G	UniProt,dbSNP
VAR_062291	p.Ile450Thr	missense variant	-	NC_000017.11:g.58207143A>G	UniProt
RCV000280753	p.Ile450Thr	missense variant	-	NC_000017.11:g.58207143A>G	ClinVar
rs538819956	p.Gly452Ser	missense variant	-	NC_000017.11:g.58207138C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1354483517	p.Glu455Asp	missense variant	-	NC_000017.11:g.58207127T>A	TOPMed,gnomAD
rs199927741	p.Glu455Gln	missense variant	-	NC_000017.11:g.58207129C>G	ESP,ExAC,TOPMed,gnomAD
RCV000284786	p.Glu455Gln	missense variant	-	NC_000017.11:g.58207129C>G	ClinVar
rs1395940683	p.Leu456Pro	missense variant	-	NC_000017.11:g.58207125A>G	TOPMed
rs1313546665	p.Glu457Asp	missense variant	-	NC_000017.11:g.58207121C>G	TOPMed
NCI-TCGA novel	p.Asp458Gly	missense variant	-	NC_000017.11:g.58207119T>C	NCI-TCGA
NCI-TCGA novel	p.Asp458Glu	missense variant	-	NC_000017.11:g.58207118G>C	NCI-TCGA
rs1217066269	p.Leu459Val	missense variant	-	NC_000017.11:g.58207117G>C	TOPMed
rs760032525	p.Ser460Phe	missense variant	-	NC_000017.11:g.58207113G>A	ExAC,TOPMed,gnomAD
rs730882120	p.Tyr461Cys	missense variant	-	NC_000017.11:g.58207110T>C	TOPMed,gnomAD
RCV000161134	p.Tyr461Cys	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207110T>C	ClinVar
rs766392300	p.Arg463Gly	missense variant	-	NC_000017.11:g.58207105G>C	ExAC,TOPMed,gnomAD
rs766392300	p.Arg463Trp	missense variant	-	NC_000017.11:g.58207105G>A	ExAC,TOPMed,gnomAD
rs201619500	p.Arg463Gln	missense variant	-	NC_000017.11:g.58207104C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000400230	p.Arg463Gln	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207104C>T	ClinVar
RCV000285730	p.Arg463Gln	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207104C>T	ClinVar
RCV000410219	p.Pro465Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58207099del	ClinVar
RCV000410881	p.Pro465Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207099del	ClinVar
RCV000412320	p.Pro465Ter	frameshift	Joubert syndrome 28 (JBTS28)	NC_000017.11:g.58207099del	ClinVar
rs1393954275	p.Gly466Ter	stop gained	-	NC_000017.11:g.58207096C>A	gnomAD
rs566204379	p.Gly470Trp	missense variant	-	NC_000017.11:g.58206547C>A	1000Genomes,ExAC,gnomAD
rs776303055	p.Glu471Gln	missense variant	-	NC_000017.11:g.58206544C>G	ExAC,gnomAD
rs776303055	p.Glu471Lys	missense variant	-	NC_000017.11:g.58206544C>T	ExAC,gnomAD
RCV000780412	p.Arg472Cys	missense variant	-	NC_000017.11:g.58206541G>A	ClinVar
RCV000286170	p.Arg472Cys	missense variant	-	NC_000017.11:g.58206541G>A	ClinVar
rs181513926	p.Arg472Gly	missense variant	-	NC_000017.11:g.58206541G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs181513926	p.Arg472Cys	missense variant	-	NC_000017.11:g.58206541G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772114886	p.Arg472Leu	missense variant	-	NC_000017.11:g.58206540C>A	ExAC,TOPMed,gnomAD
rs772114886	p.Arg472His	missense variant	-	NC_000017.11:g.58206540C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser474Ile	missense variant	-	NC_000017.11:g.58206534C>A	NCI-TCGA
rs200026560	p.Arg475His	missense variant	-	NC_000017.11:g.58206531C>T	ExAC,TOPMed,gnomAD
rs529604036	p.Arg475Cys	missense variant	-	NC_000017.11:g.58206532G>A	1000Genomes,ExAC,gnomAD
RCV000518872	p.Arg475His	missense variant	-	NC_000017.11:g.58206531C>T	ClinVar
rs1359228640	p.Phe476Ser	missense variant	-	NC_000017.11:g.58206528A>G	TOPMed,gnomAD
rs770548274	p.Gly477Val	missense variant	-	NC_000017.11:g.58206525C>A	ExAC,gnomAD
RCV000193368	p.Arg479His	missense variant	-	NC_000017.11:g.58206519C>T	ClinVar
rs769442220	p.Arg479Cys	missense variant	-	NC_000017.11:g.58206520G>A	ExAC,TOPMed,gnomAD
RCV000673842	p.Arg479Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206495_58206523del	ClinVar
rs111315726	p.Arg479His	missense variant	-	NC_000017.11:g.58206519C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411418411	p.Thr480Ile	missense variant	-	NC_000017.11:g.58206516G>A	gnomAD
rs962001500	p.Thr482Ile	missense variant	-	NC_000017.11:g.58206510G>A	TOPMed,gnomAD
rs369380403	p.Thr483Pro	missense variant	-	NC_000017.11:g.58206508T>G	ESP,ExAC,TOPMed
rs1473936553	p.Gly484Ser	missense variant	-	NC_000017.11:g.58206505C>T	gnomAD
RCV000050030	p.Thr485Ter	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58206504_58206507dup	ClinVar
RCV000230084	p.Thr485Ter	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58206504_58206507dup	ClinVar
RCV000340753	p.Thr485Ter	frameshift	MKS1-Related Disorders	NC_000017.11:g.58206504_58206507dup	ClinVar
rs758937277	p.Phe488Leu	missense variant	-	NC_000017.11:g.58206491G>C	ExAC,gnomAD
rs916562674	p.Arg489Leu	missense variant	-	NC_000017.11:g.58206489C>A	TOPMed,gnomAD
rs916562674	p.Arg489His	missense variant	-	NC_000017.11:g.58206489C>T	TOPMed,gnomAD
rs1003579700	p.Arg489Cys	missense variant	-	NC_000017.11:g.58206490G>A	TOPMed
RCV000665962	p.Cys492Trp	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	ClinVar
rs750522668	p.Cys492Tyr	missense variant	-	NC_000017.11:g.58206480C>T	ExAC
rs137853105	p.Cys492Trp	missense variant	-	NC_000017.11:g.58206479A>C	ExAC,TOPMed,gnomAD
rs137853105	p.Cys492Trp	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	UniProt,dbSNP
VAR_062292	p.Cys492Trp	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	UniProt
rs1218016890	p.Leu493Pro	missense variant	-	NC_000017.11:g.58206477A>G	TOPMed
rs761944624	p.Leu493Met	missense variant	-	NC_000017.11:g.58206478G>T	ExAC,gnomAD
COSM981750	p.Gln495Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58206472G>A	NCI-TCGA Cosmic
rs764000969	p.Ser496Tyr	missense variant	-	NC_000017.11:g.58206468G>T	ExAC,TOPMed,gnomAD
rs764000969	p.Ser496Cys	missense variant	-	NC_000017.11:g.58206468G>C	ExAC,TOPMed,gnomAD
rs386834045	p.Arg497Lys	missense variant	-	NC_000017.11:g.58206465C>T	-
RCV000050031	p.Arg497Lys	missense variant	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58206465C>T	ClinVar
RCV000671499	p.Phe499Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206374del	ClinVar
rs144635826	p.Met500Val	missense variant	-	NC_000017.11:g.58206373T>C	1000Genomes,ESP,TOPMed,gnomAD
rs1355211474	p.Glu501Ter	stop gained	-	NC_000017.11:g.58206370C>A	gnomAD
NCI-TCGA novel	p.Glu501Lys	missense variant	-	NC_000017.11:g.58206370C>T	NCI-TCGA
RCV000591463	p.Ser502Trp	missense variant	-	NC_000017.11:g.58206366G>C	ClinVar
rs758838271	p.Ser502Trp	missense variant	-	NC_000017.11:g.58206366G>C	ExAC,gnomAD
rs758838271	p.Ser502Leu	missense variant	-	NC_000017.11:g.58206366G>A	ExAC,gnomAD
rs1328968692	p.Ser503Gly	missense variant	-	NC_000017.11:g.58206364T>C	TOPMed
rs1052263756	p.Arg508Lys	missense variant	-	NC_000017.11:g.58206348C>T	TOPMed,gnomAD
rs1052263756	p.Arg508Thr	missense variant	-	NC_000017.11:g.58206348C>G	TOPMed,gnomAD
rs778890248	p.Met509Val	missense variant	-	NC_000017.11:g.58206346T>C	ExAC,TOPMed,gnomAD
RCV000201584	p.Arg510Ter	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58206343dup	ClinVar
rs373843986	p.Arg510Gln	missense variant	-	NC_000017.11:g.58206342C>T	ESP,ExAC,TOPMed,gnomAD
rs757310695	p.Arg510Trp	missense variant	-	NC_000017.11:g.58206343G>A	ExAC,TOPMed,gnomAD
rs757310695	p.Arg510Gly	missense variant	-	NC_000017.11:g.58206343G>C	ExAC,TOPMed,gnomAD
rs373843986	p.Arg510Leu	missense variant	-	NC_000017.11:g.58206342C>A	ESP,ExAC,TOPMed,gnomAD
rs9906421	p.Ser511Arg	missense variant	-	NC_000017.11:g.58206340T>G	TOPMed
rs9906421	p.Ser511Gly	missense variant	-	NC_000017.11:g.58206340T>C	TOPMed
RCV000667132	p.Ser511Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206338_58206341del	ClinVar
rs370130538	p.Val512Met	missense variant	-	NC_000017.11:g.58206337C>T	ESP,TOPMed,gnomAD
rs775558298	p.Arg515Cys	missense variant	-	NC_000017.11:g.58206328G>A	ExAC,TOPMed,gnomAD
rs775558298	p.Arg515Gly	missense variant	-	NC_000017.11:g.58206328G>C	ExAC,TOPMed,gnomAD
rs200658872	p.Arg515His	missense variant	-	NC_000017.11:g.58206327C>T	ESP,ExAC,TOPMed,gnomAD
rs200658872	p.Arg515Leu	missense variant	-	NC_000017.11:g.58206327C>A	ESP,ExAC,TOPMed,gnomAD
rs200658872	p.Arg515Pro	missense variant	-	NC_000017.11:g.58206327C>G	ESP,ExAC,TOPMed,gnomAD
rs1176653635	p.Leu516Pro	missense variant	-	NC_000017.11:g.58206324A>G	TOPMed
rs767285168	p.Gly518Glu	missense variant	-	NC_000017.11:g.58206318C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly518Trp	missense variant	-	NC_000017.11:g.58206319C>A	NCI-TCGA
rs1423720161	p.Ser520Asn	missense variant	-	NC_000017.11:g.58206312C>T	gnomAD
NCI-TCGA novel	p.Gln522His	missense variant	-	NC_000017.11:g.58206305C>A	NCI-TCGA
COSM1303099	p.Gln522His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58206305C>G	NCI-TCGA Cosmic
rs1379192126	p.Ser523Arg	missense variant	-	NC_000017.11:g.58206302A>T	TOPMed
rs759400183	p.Ser524Cys	missense variant	-	NC_000017.11:g.58206300G>C	ExAC,gnomAD
rs910963522	p.Ile525Leu	missense variant	-	NC_000017.11:g.58206298T>G	TOPMed
rs774309110	p.Asn527Ser	missense variant	-	NC_000017.11:g.58206291T>C	ExAC,TOPMed,gnomAD
rs1555596664	p.Val528Met	missense variant	-	NC_000017.11:g.58206289C>T	-
RCV000598109	p.Val528Met	missense variant	-	NC_000017.11:g.58206289C>T	ClinVar
rs767250536	p.Glu530Asp	missense variant	-	NC_000017.11:g.58206169C>A	ExAC,TOPMed,gnomAD
rs751294519	p.Ala531Gly	missense variant	-	NC_000017.11:g.58206167G>C	ExAC,gnomAD
rs751294519	p.Ala531Asp	missense variant	-	NC_000017.11:g.58206167G>T	ExAC,gnomAD
rs1347023400	p.Phe532Leu	missense variant	-	NC_000017.11:g.58206165A>G	gnomAD
rs745946583	p.Arg533Cys	missense variant	-	NC_000017.11:g.58206162G>A	ExAC,TOPMed,gnomAD
rs779093781	p.Arg533His	missense variant	-	NC_000017.11:g.58206161C>T	ExAC,TOPMed,gnomAD
rs779093781	p.Arg533Leu	missense variant	-	NC_000017.11:g.58206161C>A	ExAC,TOPMed,gnomAD
RCV000669895	p.Arg534Ter	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206159G>A	ClinVar
rs199910690	p.Arg534Gln	missense variant	-	NC_000017.11:g.58206158C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772719574	p.Arg534Ter	stop gained	-	NC_000017.11:g.58206159G>A	ExAC,TOPMed,gnomAD
rs1396485350	p.Ala535Val	missense variant	-	NC_000017.11:g.58206155G>A	TOPMed
rs768171144	p.Arg536Trp	missense variant	-	NC_000017.11:g.58206153G>A	ExAC,TOPMed,gnomAD
COSM6081358	p.Arg536Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58206152C>A	NCI-TCGA Cosmic
rs746283445	p.Arg536Gln	missense variant	-	NC_000017.11:g.58206152C>T	ExAC,TOPMed,gnomAD
rs771624307	p.Arg537His	missense variant	-	NC_000017.11:g.58206149C>T	ExAC,gnomAD
rs35464956	p.Arg537Cys	missense variant	-	NC_000017.11:g.58206150G>A	ESP,ExAC,TOPMed,gnomAD
RCV000206374	p.Arg537Cys	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58206150G>A	ClinVar
RCV000664903	p.Arg537Cys	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206150G>A	ClinVar
rs557678962	p.Arg538His	missense variant	-	NC_000017.11:g.58206146C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs34631184	p.Arg538Cys	missense variant	-	NC_000017.11:g.58206147G>A	ESP,ExAC,TOPMed,gnomAD
rs557678962	p.Arg538Leu	missense variant	-	NC_000017.11:g.58206146C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000670665	p.Met539Ter	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206145del	ClinVar
rs1181990344	p.Met539Val	missense variant	-	NC_000017.11:g.58206144T>C	gnomAD
rs1457241426	p.Met539Ile	missense variant	-	NC_000017.11:g.58206142C>T	gnomAD
RCV000665955	p.Glu541Ter	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206138C>A	ClinVar
rs1555596538	p.Glu541Ter	stop gained	-	NC_000017.11:g.58206138C>A	-
rs1216634734	p.Ala542Thr	missense variant	-	NC_000017.11:g.58206135C>T	TOPMed
RCV000593854	p.Arg543Trp	missense variant	-	NC_000017.11:g.58206132G>A	ClinVar
rs748406509	p.Arg543Trp	missense variant	-	NC_000017.11:g.58206132G>A	ExAC,TOPMed,gnomAD
rs1200480979	p.Arg543Gln	missense variant	-	NC_000017.11:g.58206131C>T	TOPMed,gnomAD
rs545364645	p.Ser545Arg	missense variant	-	NC_000017.11:g.58206124G>T	1000Genomes,gnomAD
rs755128244	p.Ser545Asn	missense variant	-	NC_000017.11:g.58206125C>T	ExAC,gnomAD
rs771585740	p.Pro547Arg	missense variant	-	NC_000017.11:g.58206119G>C	ExAC,TOPMed,gnomAD
rs751425104	p.Pro547Ser	missense variant	-	NC_000017.11:g.58206120G>A	ExAC,gnomAD
rs771585740	p.Pro547Leu	missense variant	-	NC_000017.11:g.58206119G>A	ExAC,TOPMed,gnomAD
COSM78990	p.Gln548Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58206117G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp549Tyr	missense variant	-	NC_000017.11:g.58206114C>A	NCI-TCGA
rs1376291853	p.Leu550Val	missense variant	-	NC_000017.11:g.58206111G>C	gnomAD
rs915370426	p.Pro553Ser	missense variant	-	NC_000017.11:g.58206102G>A	TOPMed,gnomAD
rs764747820	p.Ser554Cys	missense variant	-	NC_000017.11:g.58206098G>C	ExAC,TOPMed,gnomAD
rs1456047976	p.Thr556Ile	missense variant	-	NC_000017.11:g.58206092G>A	gnomAD
rs1235845808	p.Val558Leu	missense variant	-	NC_000017.11:g.58206087C>G	gnomAD
rs1286667377	p.Ter560Gln	stop lost	-	NC_000017.11:g.58206081A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002902	Anencephaly	disease	HPO
C0003466	Anus, Imperforate	disease	HPO
C0003492	Aortic coarctation	disease	HPO
C0003578	Apnea	phenotype	HPO
C0003803	Arnold Chiari Malformation	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006157	Breech Presentation	phenotype	HPO
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007758	Cerebellar Ataxia	phenotype	HPO
C0008370	Cholestasis	disease	GENOMICS_ENGLAND
C0008924	Cleft upper lip	disease	HPO
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	BEFREE;HPO
C0013274	Patent ductus arteriosus	disease	HPO
C0014065	Congenital cerebral hernia	disease	BEFREE;HPO
C0014067	Occipital Encephalocele	disease	HPO
C0014116	Endocardial Cushion Defects	group	MGD
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018816	Heart Septal Defects	group	HPO
C0018834	Heartburn	phenotype	BEFREE
C0020255	Hydrocephalus	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020538	Hypertensive disease	group	HPO
C0020619	Hypogonadism	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0022658	Kidney Diseases	group	BEFREE
C0022680	Polycystic Kidney Diseases	group	HPO
C0024433	Macrostomia	disease	HPO
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0026827	Muscle hypotonia	phenotype	CLINVAR;HPO
C0027443	Natal Teeth	phenotype	HPO
C0028738	Nystagmus	disease	CLINVAR;HPO
C0028754	Obesity	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035334	Retinitis Pigmentosa	disease	HPO
C0038002	Splenomegaly	phenotype	HPO
C0039075	Syndactyly	disease	HPO
C0039685	Tetralogy of Fallot	disease	BEFREE;MGD
C0042138	Uterine Neoplasms	group	BEFREE
C0079924	Oligohydramnios	phenotype	HPO
C0086543	Cataract	disease	HPO
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND;HPO;LHGDN
C0158734	Polydactyly of toes	disease	HPO
C0175754	Agenesis of corpus callosum	disease	BEFREE;HPO
C0221210	Congenital malrotation of intestine	disease	HPO
C0221217	Neck webbing	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239399	Short extremities	phenotype	CLINVAR
C0240063	Coloboma of iris	phenotype	HPO
C0240595	Rotary Nystagmus	disease	CLINVAR
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265215	Meckel-Gruber syndrome	disease	BEFREE;CLINVAR;ORPHANET
C0265610	Congenital clinodactyly	disease	HPO
C0265783	Congenital hypoplasia of lung	disease	HPO
C0266383	Uterine Anomalies	group	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266470	Cerebellar Hypoplasia	disease	HPO
C0266544	Microcornea	disease	HPO
C0266631	Accessory spleen	phenotype	HPO
C0267818	Bile duct proliferation	disease	HPO
C0311245	Congenital cystic kidney disease	disease	MGD
C0338113	Uterine Corpus Sarcoma	disease	BEFREE
C0342491	Small adrenal gland	phenotype	HPO
C0343401	MRSA - Methicillin resistant Staphylococcus aureus infection	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0424711	Orbital separation diminished	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE;CLINVAR;ORPHANET
C0431564	Lobulated tongue	disease	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0521525	Short neck	phenotype	HPO
C0542519	Congenital absence of kidney	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0566693	Large placenta	phenotype	HPO
C0575081	Gait abnormality	group	HPO
C0600031	Congenital absence of spleen	disease	HPO
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0687120	Nephronophthisis	disease	BEFREE
C0748318	Progressive renal failure	phenotype	CLINVAR
C0752166	Bardet-Biedl Syndrome	disease	BEFREE;CTD_human;LHGDN;ORPHANET
C0795690	Congenital omphalocele	disease	HPO
C0854723	Retinal Dystrophies	group	HPO
C0917816	Mental deficiency	disease	HPO
C1112213	Cholestasis in newborn	disease	GENOMICS_ENGLAND
C1167713	Decreased corneal diameter	phenotype	HPO
C1261473	Sarcoma	group	BEFREE
C1301937	Talipes	disease	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1384670	Single umbilical artery	disease	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1567435	Polycystic Kidney - body part	phenotype	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1834931	Cystic renal dysplasia	phenotype	BEFREE
C1835452	Hypoplastic ovary	phenotype	HPO
C1836047	Long face	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1839860	Elevated amniotic fluid alpha-fetoprotein	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1840382	Abnormality of the ureter	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1846223	Adrenal hypoplasia	phenotype	HPO
C1846357	Meckel syndrome type 3	disease	BEFREE
C1853235	Sclerocornea	disease	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1855330	Cerebral hypoplasia	phenotype	HPO
C1855331	Olfactory lobe agenesis	phenotype	HPO
C1855333	External genital hypoplasia	phenotype	HPO
C1855335	Hypoplasia of the bladder	phenotype	HPO
C1855340	Bowing of the long bones	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1859980	Ambiguous genitalia due to virilization	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	HPO
C2117329	x-ray of toe: polydactyly	phenotype	CLINVAR
C2673873	BARDET-BIEDL SYNDROME 13	disease	CLINVAR;CTD_human;UNIPROT
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	HPO
C3280766	JOUBERT SYNDROME 14	disease	BEFREE
C3489733	Oculomotor apraxia	disease	HPO
C3550658	Maternal oligohydramnios	phenotype	HPO
C3552713	Talipes foot deformities	phenotype	HPO
C3714506	Meckel syndrome type 1	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806218	Episodic tachypnea	phenotype	HPO
C3806443	Puffy cheeks	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020875	Mental and motor retardation	phenotype	CLINVAR;HPO
C4020876	Dull intelligence	phenotype	HPO
C4020886	Defective or absent horizontal voluntary eye movements	phenotype	HPO
C4021777	Abnormality of the larynx	phenotype	HPO
C4021823	Ambiguous genitalia, male	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024748	Aplasia/Hypoplasia of the iris	phenotype	HPO
C4025844	Chorioretinal abnormality	phenotype	HPO
C4025891	Ambiguous genitalia, female	disease	HPO
C4274118	Joubert syndrome with ocular defect	disease	ORPHANET
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
C4280304	Curvature of digit	phenotype	HPO
C4280532	Decreased width of the skull	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4310705	JOUBERT SYNDROME 28	disease	CLINVAR
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	IEA
GO:0003271	smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0010669	epithelial structure maintenance	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0044458	motile cilium assembly	IEA
GO:0048706	embryonic skeletal system development	IEA
GO:0048754	branching morphogenesis of an epithelial tube	IEA
GO:0060122	inner ear receptor cell stereocilium organization	IEA
GO:0060271	cilium assembly	ISS
GO:0060271	cilium assembly	IMP
GO:0060322	head development	IEA
GO:0060411	cardiac septum morphogenesis	IEA
GO:0060828	regulation of canonical Wnt signaling pathway	IEA
GO:0061009	common bile duct development	IEA
GO:0097711	ciliary basal body-plasma membrane docking	TAS
GO:1901620	regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:1905515	non-motile cilium assembly	IEA
GO:1990403	embryonic brain development	IEA
GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005813	centrosome	IDA
GO:0005814	centriole	IEA
GO:0005829	cytosol	TAS
GO:0016020	membrane	IEA
GO:0036038	MKS complex	ISS
GO:0036064	ciliary basal body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of MKS1 mRNA	27291303
D000661	Amphetamine	Amphetamine results in decreased expression of MKS1 mRNA	30779732
C006780	bisphenol A	bisphenol A affects the expression of MKS1 mRNA	25181051
D002117	Calcitriol	Calcitriol results in decreased expression of MKS1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of MKS1 mRNA	21592394
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of MKS1 mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of MKS1 mRNA	26577399
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of MKS1 mRNA	23640034
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of MKS1 mRNA]	27941970
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MKS1 mRNA	21266533
D004958	Estradiol	Estradiol affects the expression of MKS1 mRNA	22574217
C000593030	GSK-J4	GSK-J4 results in decreased expression of MKS1 mRNA	29301935
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of MKS1 mRNA	17183730
C544151	jinfukang	jinfukang results in increased expression of MKS1 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in decreased expression of MKS1 mRNA	28988120
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MKS1 mRNA	28001369
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MKS1 mRNA	25554681
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of MKS1 mRNA	26251327
D010936	Plant Extracts	Plant Extracts results in increased expression of MKS1 mRNA	23557933
C017947	sodium arsenite	sodium arsenite results in increased expression of MKS1 mRNA	29361514
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of MKS1 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of MKS1 mRNA	21592394
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of MKS1 gene	27618143
C012589	trichostatin A	trichostatin A results in increased expression of MKS1 mRNA	15901671
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of MKS1 mRNA	17183730
D014635	Valproic Acid	Valproic Acid results in increased expression of MKS1 mRNA	15901671

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0083	Bardet-Biedl syndrome
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0979	Joubert syndrome
KW-0981	Meckel syndrome
KW-0991	Mental retardation
KW-0550	Obesity
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR010796	B9_dom

PROSITE

PROSITE ID	PROSITE Term
PS51381	C2_B9

Pfam

Pfam ID	Pfam Term
PF07162	B9-C2

Gene: MKS1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction