CleftGeneDB-Search

Gene: RPGRIP1L

Basic information

Tag	Content
Uniprot ID	Q68CZ1; A0PJ88; Q9Y2K8;
Entrez ID	23322
Genbank protein ID	CAH18439.1; AAH17977.1; BAA76849.1;
Genbank nucleotide ID	NM_001127897.3; NM_015272.4;
Ensembl protein ID	ENSP00000262135; ENSP00000493946;
Ensembl nucleotide ID	ENSG00000103494
Gene name	Protein fantom
Gene symbol	RPGRIP1L
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity).
Sequence	MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL EDRFLRLHDE 60 NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH 120 ELEKQNETLK NRLISAKQQL QTQGYRQTPY NNVQSRINTG RRKANENAGL QECPRKGIKF 180 QDADVAETPH PMFTKYGNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE 240 NEIELSLLQL REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR 300 ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND LEKERELLKE 360 NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL TDKTEILDRL KTERDQNEKL 420 VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ ENDINADELS EALLLIKAQK EQKNGDLSFL 480 VKVDSEINKD LERSMRELQA THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL 540 QQDYELKVEQ YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 600 ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG LHPEYNFTSQ 660 YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF HEILEKSGRI FCTASLIGTK 720 GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KGPEHMQSLS QQAPKTAQLS 780 STDSTDGNLN ELHITIRCCN HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD 840 HMYFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT 900 DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA SSVSTLVLAP 960 RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP EVEHIPEIEI NMLTVPHVPK 1020 VSQEGSVDEV KENTEKMQQG KDDVSLLSEG QLAEQSLASS EDETEITEDL EPEVEEDMSA 1080 SDSDDCIIPG PISKNIKQSL ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC 1140 HHTQPSEKIR IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY 1200 YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL ECEDIGVAHV 1260 DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH ALQSVYKQYR DDLEA 1315

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

PDB ID
2YRB

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	RPGRIP1L	102182622	A0A452EW23		Capra hircus	Prediction	More>>
1:1 ortholog	RPGRIP1L	23322	Q68CZ1		Homo sapiens	Prediction	More>>
1:1 ortholog	Rpgrip1l	244585	Q8CG73	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	RPGRIP1L	454089	K7B740		Pan troglodytes	Prediction	More>>
1:1 ortholog	RPGRIP1L		A0A286ZM09		Sus scrofa	Prediction	More>>
1:1 ortholog	Rpgrip1l	307724	D3Z8G3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	rpgrip1l	557688	E7F4E7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs758617116	p.Pro4Ser	missense variant	-	NC_000016.10:g.53700714G>A	ExAC,gnomAD
rs758617116	p.Pro4Ala	missense variant	-	NC_000016.10:g.53700714G>C	ExAC,gnomAD
rs370703272	p.Asp6Val	missense variant	-	NC_000016.10:g.53700707T>A	ESP,ExAC,TOPMed,gnomAD
rs1439235803	p.Pro13Leu	missense variant	-	NC_000016.10:g.53700686G>A	gnomAD
rs1294590626	p.Pro13Ser	missense variant	-	NC_000016.10:g.53700687G>A	gnomAD
rs1369026543	p.Lys15Glu	missense variant	-	NC_000016.10:g.53700681T>C	gnomAD
rs1168346867	p.Asp16Asn	missense variant	-	NC_000016.10:g.53700678C>T	gnomAD
rs753794628	p.Thr17Ile	missense variant	-	NC_000016.10:g.53700674G>A	ExAC,gnomAD
rs753794628	p.Thr17Arg	missense variant	-	NC_000016.10:g.53700674G>C	ExAC,gnomAD
rs1432623543	p.Gly18Asp	missense variant	-	NC_000016.10:g.53700671C>T	TOPMed,gnomAD
rs766276171	p.Asn20Thr	missense variant	-	NC_000016.10:g.53700665T>G	ExAC,gnomAD
rs949179084	p.Leu21Pro	missense variant	-	NC_000016.10:g.53700662A>G	TOPMed,gnomAD
rs760486367	p.Phe22Leu	missense variant	-	NC_000016.10:g.53700658A>C	ExAC,TOPMed,gnomAD
RCV000722933	p.Gly23Ter	frameshift	-	NC_000016.10:g.53700659_53700660dup	ClinVar
rs936558765	p.Gly25Arg	missense variant	-	NC_000016.10:g.53700651C>G	TOPMed
rs143515432	p.Gly25Val	missense variant	-	NC_000016.10:g.53700650C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1246633231	p.Glu29Ala	missense variant	-	NC_000016.10:g.53696295T>G	TOPMed
rs771740102	p.Glu29Lys	missense variant	-	NC_000016.10:g.53700639C>T	ExAC,gnomAD
rs766334327	p.Thr30Ile	missense variant	-	NC_000016.10:g.53696292G>A	ExAC,gnomAD
rs1195150584	p.Thr32Ile	missense variant	-	NC_000016.10:g.53696286G>A	TOPMed
rs756062877	p.Thr32Ser	missense variant	-	NC_000016.10:g.53696287T>A	ExAC,TOPMed,gnomAD
rs756062877	p.Thr32Ala	missense variant	-	NC_000016.10:g.53696287T>C	ExAC,TOPMed,gnomAD
rs565245381	p.Arg34Gly	missense variant	-	NC_000016.10:g.53696281G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs565245381	p.Arg34Trp	missense variant	-	NC_000016.10:g.53696281G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761513762	p.Arg34Gln	missense variant	-	NC_000016.10:g.53696280C>T	ExAC,TOPMed,gnomAD
rs867836079	p.Met36Val	missense variant	-	NC_000016.10:g.53696275T>C	gnomAD
rs774172381	p.Lys37Asn	missense variant	-	NC_000016.10:g.53696270C>A	ExAC,TOPMed,gnomAD
rs1403169303	p.Lys37Met	missense variant	-	NC_000016.10:g.53696271T>A	gnomAD
RCV000392549	p.Arg39His	missense variant	-	NC_000016.10:g.53696265C>T	ClinVar
rs886042345	p.Arg39His	missense variant	-	NC_000016.10:g.53696265C>T	TOPMed,gnomAD
rs1455684300	p.Arg39Cys	missense variant	-	NC_000016.10:g.53696266G>A	TOPMed,gnomAD
rs886042345	p.Arg39Leu	missense variant	-	NC_000016.10:g.53696265C>A	TOPMed,gnomAD
rs1555616593	p.Gln40Ter	stop gained	-	NC_000016.10:g.53696263G>A	-
RCV000505609	p.Gln40Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53696263G>A	ClinVar
rs1457715829	p.Ala41Thr	missense variant	-	NC_000016.10:g.53696260C>T	gnomAD
rs1365531088	p.Ala41Val	missense variant	-	NC_000016.10:g.53696259G>A	TOPMed,gnomAD
rs774932728	p.Arg44Cys	missense variant	-	NC_000016.10:g.53696251G>A	ExAC,TOPMed,gnomAD
rs771458105	p.Arg44His	missense variant	-	NC_000016.10:g.53696250C>T	ExAC,TOPMed,gnomAD
rs1463122464	p.Val45Ile	missense variant	-	NC_000016.10:g.53696248C>T	gnomAD
rs773558676	p.Arg47Pro	missense variant	-	NC_000016.10:g.53696241C>G	ExAC,TOPMed,gnomAD
rs773558676	p.Arg47His	missense variant	-	NC_000016.10:g.53696241C>T	ExAC,TOPMed,gnomAD
rs377512064	p.Glu48Asp	missense variant	-	NC_000016.10:g.53696237C>G	ESP,ExAC,TOPMed,gnomAD
rs1264265906	p.Leu50Arg	missense variant	-	NC_000016.10:g.53696232A>C	gnomAD
rs1470142483	p.Arg53Gly	missense variant	-	NC_000016.10:g.53696224T>C	TOPMed,gnomAD
rs1222800573	p.Leu55Trp	missense variant	-	NC_000016.10:g.53696217A>C	TOPMed
RCV000521824	p.Arg56His	missense variant	-	NC_000016.10:g.53696214C>T	ClinVar
rs374157187	p.Arg56His	missense variant	-	NC_000016.10:g.53696214C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755258407	p.Arg56Cys	missense variant	-	NC_000016.10:g.53696215G>A	ExAC,TOPMed,gnomAD
rs146925098	p.Leu57Phe	missense variant	-	NC_000016.10:g.53696210C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000262935	p.Leu57Phe	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696210C>A	ClinVar
RCV000353091	p.Leu57Phe	missense variant	Nephronophthisis	NC_000016.10:g.53696210C>A	ClinVar
RCV000489212	p.Leu57Phe	missense variant	-	NC_000016.10:g.53696210C>A	ClinVar
RCV000298218	p.Leu57Phe	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53696210C>A	ClinVar
rs756011104	p.His58Arg	missense variant	-	NC_000016.10:g.53696208T>C	ExAC,gnomAD
rs750355385	p.Asp59His	missense variant	-	NC_000016.10:g.53696206C>G	ExAC,TOPMed,gnomAD
rs750355385	p.Asp59Asn	missense variant	-	NC_000016.10:g.53696206C>T	ExAC,TOPMed,gnomAD
rs140115185	p.Asn61Ile	missense variant	-	NC_000016.10:g.53696199T>A	ESP,ExAC,TOPMed,gnomAD
rs1409709332	p.Ile62Val	missense variant	-	NC_000016.10:g.53696197T>C	TOPMed
rs1387017352	p.Leu64Val	missense variant	-	NC_000016.10:g.53696191G>C	gnomAD
rs751444506	p.Gln66Ter	stop gained	-	NC_000016.10:g.53696185G>A	ExAC,TOPMed,gnomAD
rs751444506	p.Gln66Lys	missense variant	-	NC_000016.10:g.53696185G>T	ExAC,TOPMed,gnomAD
rs763837182	p.His67Leu	missense variant	-	NC_000016.10:g.53696181T>A	ExAC,gnomAD
rs775007896	p.Arg69Ser	missense variant	-	NC_000016.10:g.53696176G>T	ExAC,TOPMed,gnomAD
rs775007896	p.Arg69Cys	missense variant	-	NC_000016.10:g.53696176G>A	ExAC,TOPMed,gnomAD
rs574091991	p.Arg69His	missense variant	-	NC_000016.10:g.53696175C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000636975	p.Arg69His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696175C>T	ClinVar
rs574091991	p.Arg69Leu	missense variant	-	NC_000016.10:g.53696175C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000275958	p.Asp73His	missense variant	Nephronophthisis	NC_000016.10:g.53696164C>G	ClinVar
RCV000311697	p.Asp73His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696164C>G	ClinVar
RCV000371075	p.Asp73His	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53696164C>G	ClinVar
rs369451829	p.Asp73His	missense variant	-	NC_000016.10:g.53696164C>G	ESP,ExAC,TOPMed,gnomAD
rs1465431958	p.Met78Thr	missense variant	-	NC_000016.10:g.53692362A>G	TOPMed,gnomAD
rs1242588637	p.Met78Ile	missense variant	-	NC_000016.10:g.53692361C>T	gnomAD
rs763182141	p.Ala79Thr	missense variant	-	NC_000016.10:g.53692360C>T	ExAC,TOPMed,gnomAD
RCV000310412	p.Arg84Gln	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692344C>T	ClinVar
RCV000464407	p.Arg84Gln	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692344C>T	ClinVar
RCV000398312	p.Arg84Gln	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53692344C>T	ClinVar
RCV000346684	p.Arg84Gln	missense variant	Nephronophthisis	NC_000016.10:g.53692344C>T	ClinVar
rs151212590	p.Arg84Gln	missense variant	-	NC_000016.10:g.53692344C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770098954	p.Arg84Trp	missense variant	-	NC_000016.10:g.53692345G>A	ExAC,TOPMed,gnomAD
RCV000224509	p.Arg84Trp	missense variant	-	NC_000016.10:g.53692345G>A	ClinVar
RCV000765298	p.Arg84Gln	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53692344C>T	ClinVar
rs149072900	p.Val86Leu	missense variant	-	NC_000016.10:g.53692339C>G	ExAC,gnomAD
rs758151453	p.Val86Asp	missense variant	-	NC_000016.10:g.53692338A>T	ExAC,gnomAD
rs149072900	p.Val86Ile	missense variant	-	NC_000016.10:g.53692339C>T	ExAC,gnomAD
rs758151453	p.Val86Gly	missense variant	-	NC_000016.10:g.53692338A>C	ExAC,gnomAD
rs752587948	p.Asn87Lys	missense variant	-	NC_000016.10:g.53692334A>T	ExAC
rs778424280	p.Asp88Tyr	missense variant	-	NC_000016.10:g.53692333C>A	ExAC
rs1291099401	p.Lys89Glu	missense variant	-	NC_000016.10:g.53692330T>C	gnomAD
rs1440736858	p.Lys90Asn	missense variant	-	NC_000016.10:g.53692325T>G	gnomAD
rs754715408	p.Lys90Glu	missense variant	-	NC_000016.10:g.53692327T>C	ExAC,gnomAD
rs1324611876	p.Arg91Lys	missense variant	-	NC_000016.10:g.53692323C>T	gnomAD
rs753287410	p.Tyr92Ter	stop gained	-	NC_000016.10:g.53692319A>T	ExAC,gnomAD
rs1427012567	p.Tyr92Phe	missense variant	-	NC_000016.10:g.53692320T>A	gnomAD
rs762264695	p.Glu93Asp	missense variant	-	NC_000016.10:g.53692316C>G	ExAC,TOPMed,gnomAD
rs765876839	p.Glu93Val	missense variant	-	NC_000016.10:g.53692317T>A	ExAC,gnomAD
rs377004672	p.Arg94Trp	missense variant	-	NC_000016.10:g.53692315G>A	1000Genomes,ExAC,gnomAD
rs549881475	p.Arg94Gln	missense variant	-	NC_000016.10:g.53692314C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs549881475	p.Arg94Pro	missense variant	-	NC_000016.10:g.53692314C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201385056	p.Gly96Asp	missense variant	-	NC_000016.10:g.53692308C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000345463	p.Gly98Val	missense variant	Nephronophthisis	NC_000016.10:g.53692302C>A	ClinVar
RCV000285787	p.Gly98Val	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692302C>A	ClinVar
rs886052098	p.Gly98Val	missense variant	-	NC_000016.10:g.53692302C>A	-
rs202124667	p.Gly98Ser	missense variant	-	NC_000016.10:g.53692303C>T	ESP,ExAC,TOPMed,gnomAD
RCV000396994	p.Gly98Val	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53692302C>A	ClinVar
rs746896160	p.Lys100Arg	missense variant	-	NC_000016.10:g.53692296T>C	ExAC,gnomAD
rs1236387905	p.Arg101Trp	missense variant	-	NC_000016.10:g.53692294G>A	gnomAD
rs146484603	p.Arg101Gln	missense variant	-	NC_000016.10:g.53692293C>T	ESP,ExAC,TOPMed,gnomAD
rs747880301	p.Gly103Ter	stop gained	-	NC_000016.10:g.53692288C>A	ExAC,gnomAD
rs1486460799	p.Arg104Gln	missense variant	-	NC_000016.10:g.53692284C>T	gnomAD
rs547189939	p.Arg104Ter	stop gained	-	NC_000016.10:g.53692285G>A	1000Genomes,ExAC,gnomAD
rs1307589856	p.Asp105Glu	missense variant	-	NC_000016.10:g.53692280A>T	gnomAD
rs748967524	p.Asp105Asn	missense variant	-	NC_000016.10:g.53692282C>T	ExAC,gnomAD
rs371226088	p.Met108Ile	missense variant	-	NC_000016.10:g.53692271C>G	ESP,ExAC,TOPMed,gnomAD
rs755597211	p.Ile112Thr	missense variant	-	NC_000016.10:g.53692260A>G	ExAC,TOPMed,gnomAD
rs1345034748	p.Gln114His	missense variant	-	NC_000016.10:g.53692253C>G	TOPMed
rs201413825	p.Gln114Arg	missense variant	-	NC_000016.10:g.53692254T>C	ExAC,TOPMed,gnomAD
RCV000596655	p.Gln114Arg	missense variant	-	NC_000016.10:g.53692254T>C	ClinVar
rs1057103997	p.Lys118Gln	missense variant	-	NC_000016.10:g.53692243T>G	TOPMed
rs1432721427	p.His120Asn	missense variant	-	NC_000016.10:g.53692237G>T	gnomAD
rs1424333330	p.His120Arg	missense variant	-	NC_000016.10:g.53692236T>C	gnomAD
rs764506811	p.Glu123Gly	missense variant	-	NC_000016.10:g.53692227T>C	ExAC,gnomAD
rs938661805	p.Gln125Pro	missense variant	-	NC_000016.10:g.53692221T>G	TOPMed
rs759004632	p.Thr128Asn	missense variant	-	NC_000016.10:g.53692212G>T	ExAC,gnomAD
rs927281262	p.Leu129His	missense variant	-	NC_000016.10:g.53692209A>T	TOPMed
rs1480752756	p.Lys130Asn	missense variant	-	NC_000016.10:g.53692205T>G	gnomAD
rs765642149	p.Lys130Ile	missense variant	-	NC_000016.10:g.53692206T>A	ExAC,TOPMed,gnomAD
rs765642149	p.Lys130Arg	missense variant	-	NC_000016.10:g.53692206T>C	ExAC,TOPMed,gnomAD
RCV000001127	p.Arg132Ter	nonsense	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53692201T>A	ClinVar
rs121918201	p.Arg132Ter	stop gained	-	NC_000016.10:g.53692201T>A	-
rs1308865361	p.Ser135Ala	missense variant	-	NC_000016.10:g.53692192A>C	TOPMed,gnomAD
rs1311148417	p.Ser135Ter	stop gained	-	NC_000016.10:g.53692191G>T	gnomAD
rs1264244756	p.Lys137Gln	missense variant	-	NC_000016.10:g.53692186T>G	gnomAD
rs1225898868	p.Leu140Val	missense variant	-	NC_000016.10:g.53692177G>C	gnomAD
rs777015830	p.Leu140Pro	missense variant	-	NC_000016.10:g.53692176A>G	ExAC,gnomAD
rs1301354988	p.Thr148Ile	missense variant	-	NC_000016.10:g.53692152G>A	gnomAD
rs1406955571	p.Pro149Leu	missense variant	-	NC_000016.10:g.53692149G>A	gnomAD
rs773397219	p.Tyr150His	missense variant	-	NC_000016.10:g.53692147A>G	ExAC,gnomAD
rs771844271	p.Tyr150Phe	missense variant	-	NC_000016.10:g.53692146T>A	ExAC,gnomAD
rs771844271	p.Tyr150Cys	missense variant	-	NC_000016.10:g.53692146T>C	ExAC,gnomAD
rs1181172841	p.Asn152Ser	missense variant	-	NC_000016.10:g.53692140T>C	TOPMed,gnomAD
rs1252193112	p.Gln154Pro	missense variant	-	NC_000016.10:g.53692134T>G	TOPMed,gnomAD
rs1252193112	p.Gln154Leu	missense variant	-	NC_000016.10:g.53692134T>A	TOPMed,gnomAD
rs773976897	p.Gln154Glu	missense variant	-	NC_000016.10:g.53692135G>C	ExAC,gnomAD
RCV000591520	p.Gln154Glu	missense variant	-	NC_000016.10:g.53692135G>C	ClinVar
rs527539036	p.Arg156Cys	missense variant	-	NC_000016.10:g.53692129G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368033553	p.Arg156His	missense variant	-	NC_000016.10:g.53692128C>T	ESP,ExAC,TOPMed,gnomAD
rs527539036	p.Arg156Ser	missense variant	-	NC_000016.10:g.53692129G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs74957591	p.Arg161His	missense variant	-	NC_000016.10:g.53692113C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74957591	p.Arg161Leu	missense variant	-	NC_000016.10:g.53692113C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374860980	p.Arg161Cys	missense variant	-	NC_000016.10:g.53692114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000636977	p.Arg161His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692113C>T	ClinVar
rs74957591	p.Arg161Pro	missense variant	-	NC_000016.10:g.53692113C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327679496	p.Ala164Thr	missense variant	-	NC_000016.10:g.53692105C>T	gnomAD
rs749282106	p.Asn165Ser	missense variant	-	NC_000016.10:g.53692101T>C	gnomAD
RCV000817532	p.Ala168Thr	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692093C>T	ClinVar
rs780770984	p.Ala168Thr	missense variant	-	NC_000016.10:g.53692093C>T	ExAC,TOPMed,gnomAD
RCV000598220	p.Ala168Thr	missense variant	-	NC_000016.10:g.53692093C>T	ClinVar
rs576414226	p.Gly169Asp	missense variant	-	NC_000016.10:g.53692089C>T	1000Genomes,ExAC,gnomAD
rs1310789427	p.Gly169Ser	missense variant	-	NC_000016.10:g.53692090C>T	gnomAD
rs576414226	p.Gly169Val	missense variant	-	NC_000016.10:g.53692089C>A	1000Genomes,ExAC,gnomAD
rs1285223205	p.Glu172Ter	stop gained	-	NC_000016.10:g.53692081C>A	TOPMed
rs1338780049	p.Arg175Gly	missense variant	-	NC_000016.10:g.53692072T>C	gnomAD
rs1433064323	p.Lys176Thr	missense variant	-	NC_000016.10:g.53692068T>G	gnomAD
rs987512823	p.Gly177Val	missense variant	-	NC_000016.10:g.53687965C>A	gnomAD
rs140067659	p.Ile178Val	missense variant	-	NC_000016.10:g.53687963T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000193122	p.Ile178Val	missense variant	-	NC_000016.10:g.53687963T>C	ClinVar
rs1259684278	p.Gln181Ter	stop gained	-	NC_000016.10:g.53687954G>A	TOPMed
rs1209593787	p.Ala183Val	missense variant	-	NC_000016.10:g.53687947G>A	TOPMed,gnomAD
rs1412326096	p.Asp184Val	missense variant	-	NC_000016.10:g.53687944T>A	TOPMed
rs1490627518	p.Val185Ile	missense variant	-	NC_000016.10:g.53687942C>T	TOPMed,gnomAD
rs767678013	p.Glu187Gly	missense variant	-	NC_000016.10:g.53687935T>C	ExAC,TOPMed,gnomAD
rs761917499	p.Thr188Ala	missense variant	-	NC_000016.10:g.53687933T>C	ExAC,TOPMed,gnomAD
rs751654979	p.Pro189Ser	missense variant	-	NC_000016.10:g.53687930G>A	ExAC,gnomAD
rs1270840441	p.Met192Lys	missense variant	-	NC_000016.10:g.53687920A>T	gnomAD
rs1277577195	p.Lys195Ter	stop gained	-	NC_000016.10:g.53687912T>A	TOPMed,gnomAD
RCV000812456	p.Lys195Ter	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53687912T>A	ClinVar
rs908885473	p.Tyr196His	missense variant	-	NC_000016.10:g.53687909A>G	TOPMed,gnomAD
VAR_066476	p.Ser199Gly	Missense	-	-	UniProt
rs564992297	p.Leu200Ter	stop gained	-	NC_000016.10:g.53687896A>C	1000Genomes,ExAC,gnomAD
rs1404063565	p.Leu201Phe	missense variant	-	NC_000016.10:g.53687894G>A	gnomAD
rs775203325	p.Glu203Asp	missense variant	-	NC_000016.10:g.53687886T>G	ExAC,TOPMed,gnomAD
rs769611947	p.Ala204Asp	missense variant	-	NC_000016.10:g.53687884G>T	ExAC,TOPMed,gnomAD
rs1304517499	p.Ala204Thr	missense variant	-	NC_000016.10:g.53687885C>T	gnomAD
rs769611947	p.Ala204Gly	missense variant	-	NC_000016.10:g.53687884G>C	ExAC,TOPMed,gnomAD
rs1167981125	p.Ile208Val	missense variant	-	NC_000016.10:g.53687873T>C	TOPMed,gnomAD
rs917696159	p.Arg209Lys	missense variant	-	NC_000016.10:g.53687869C>T	TOPMed,gnomAD
rs146584570	p.Asn210Asp	missense variant	-	NC_000016.10:g.53687867T>C	ESP,ExAC,TOPMed,gnomAD
RCV000489985	p.Asn210Asp	missense variant	-	NC_000016.10:g.53687867T>C	ClinVar
rs766043636	p.Glu212Gln	missense variant	-	NC_000016.10:g.53686575C>G	ExAC,TOPMed,gnomAD
rs376808910	p.Asn213Lys	missense variant	-	NC_000016.10:g.53686570G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139067427	p.Val214Ile	missense variant	-	NC_000016.10:g.53686569C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000406622	p.Val214Ile	missense variant	-	NC_000016.10:g.53686569C>T	ClinVar
rs1189287737	p.Val214Ala	missense variant	-	NC_000016.10:g.53686568A>G	gnomAD
rs373603989	p.Ile215Thr	missense variant	-	NC_000016.10:g.53686565A>G	ESP,ExAC,gnomAD
rs930198445	p.Ile215Val	missense variant	-	NC_000016.10:g.53686566T>C	TOPMed,gnomAD
rs1325303630	p.Gln216Arg	missense variant	-	NC_000016.10:g.53686562T>C	TOPMed
rs1279721167	p.Gln216His	missense variant	-	NC_000016.10:g.53686561C>G	gnomAD
rs1443943698	p.Gly220Ser	missense variant	-	NC_000016.10:g.53686551C>T	gnomAD
rs139259555	p.Gly220Asp	missense variant	-	NC_000016.10:g.53686550C>T	ESP,ExAC,TOPMed,gnomAD
rs139259555	p.Gly220Val	missense variant	-	NC_000016.10:g.53686550C>A	ESP,ExAC,TOPMed,gnomAD
rs776104875	p.Gln221His	missense variant	-	NC_000016.10:g.53686546C>A	ExAC,TOPMed,gnomAD
rs770267954	p.Ile222Thr	missense variant	-	NC_000016.10:g.53686544A>G	ExAC,gnomAD
rs770267954	p.Ile222Arg	missense variant	-	NC_000016.10:g.53686544A>C	ExAC,gnomAD
rs746227955	p.Leu225Ser	missense variant	-	NC_000016.10:g.53686535A>G	ExAC,gnomAD
rs369953449	p.Leu228Met	missense variant	-	NC_000016.10:g.53686527A>T	ESP,ExAC,TOPMed,gnomAD
rs61747071	p.Ala229Thr	missense variant	-	NC_000016.10:g.53686524C>T	UniProt,dbSNP
VAR_066477	p.Ala229Thr	missense variant	-	NC_000016.10:g.53686524C>T	UniProt
rs61747071	p.Ala229Thr	missense variant	-	NC_000016.10:g.53686524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000001133	p.Ala229Thr	missense variant	Retinitis pigmentosa in ciliopathies, modifier of	NC_000016.10:g.53686524C>T	ClinVar
rs377418936	p.Glu230Asp	missense variant	-	NC_000016.10:g.53686519C>A	ESP,ExAC,gnomAD
rs377418936	p.Glu230Asp	missense variant	-	NC_000016.10:g.53686519C>G	ESP,ExAC,gnomAD
rs121918197	p.Lys233Ter	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686512T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121918197	p.Lys233Gln	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686512T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000367935	p.Lys233Ter	nonsense	RPGRIP1L-Related Disorders	NC_000016.10:g.53686512T>A	ClinVar
rs752815435	p.Gln235His	missense variant	-	NC_000016.10:g.53686504C>G	ExAC,TOPMed,gnomAD
rs369055168	p.Arg237Trp	missense variant	-	NC_000016.10:g.53686500T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000049975	p.Asn241Ter	frameshift	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53686485_53686488del	ClinVar
rs753600852	p.Glu242Lys	missense variant	-	NC_000016.10:g.53686485C>T	ExAC,gnomAD
rs766117001	p.Ile243Thr	missense variant	-	NC_000016.10:g.53686481A>G	ExAC,gnomAD
rs760325160	p.Glu244Ala	missense variant	-	NC_000016.10:g.53686478T>G	ExAC,gnomAD
rs1225308895	p.Glu244Asp	missense variant	-	NC_000016.10:g.53686477C>G	gnomAD
rs1451581848	p.Gln249Arg	missense variant	-	NC_000016.10:g.53686463T>C	TOPMed
rs548877796	p.Leu250Phe	missense variant	-	NC_000016.10:g.53686461G>A	1000Genomes,ExAC,gnomAD
rs767314963	p.Arg251Gln	missense variant	-	NC_000016.10:g.53686457C>T	ExAC,TOPMed,gnomAD
rs993394322	p.Arg251Ter	stop gained	-	NC_000016.10:g.53686458G>A	TOPMed,gnomAD
rs121918199	p.Gln253Ter	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686452G>A	ExAC,gnomAD
RCV000001125	p.Gln253Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53686452G>A	ClinVar
rs770275024	p.Ala255Thr	missense variant	-	NC_000016.10:g.53686446C>T	ExAC,TOPMed,gnomAD
rs1404001784	p.Ala255Gly	missense variant	-	NC_000016.10:g.53686445G>C	gnomAD
rs151174849	p.Thr256Ile	missense variant	-	NC_000016.10:g.53686442G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000550791	p.Thr256Ile	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53686442G>A	ClinVar
rs777018286	p.Asp257Gly	missense variant	-	NC_000016.10:g.53686439T>C	ExAC,gnomAD
rs1446473521	p.Arg259Lys	missense variant	-	NC_000016.10:g.53686433C>T	gnomAD
rs916661298	p.Arg263Gln	missense variant	-	NC_000016.10:g.53675111C>T	gnomAD
rs773626315	p.Arg263Trp	missense variant	-	NC_000016.10:g.53675112G>A	ExAC,gnomAD
rs773626315	p.Arg263Gly	missense variant	-	NC_000016.10:g.53675112G>C	ExAC,gnomAD
rs772225882	p.Asp264Tyr	missense variant	-	NC_000016.10:g.53675109C>A	ExAC,gnomAD
rs375590429	p.Asp264Gly	missense variant	-	NC_000016.10:g.53675108T>C	ESP,ExAC,TOPMed,gnomAD
rs779001013	p.Met268Lys	missense variant	-	NC_000016.10:g.53675096A>T	ExAC,gnomAD
rs1284325064	p.Gln274Ter	stop gained	-	NC_000016.10:g.53675079G>A	gnomAD
rs141574764	p.Gln274Leu	missense variant	-	NC_000016.10:g.53675078T>A	ESP,ExAC,TOPMed,gnomAD
rs756174789	p.Glu277Lys	missense variant	-	NC_000016.10:g.53675070C>T	ExAC,gnomAD
rs556918902	p.Ser279Asn	missense variant	-	NC_000016.10:g.53675063C>T	ExAC,gnomAD
rs1172361802	p.Ser279Arg	missense variant	-	NC_000016.10:g.53675062G>C	TOPMed,gnomAD
rs1468162484	p.Asn280Ser	missense variant	-	NC_000016.10:g.53675060T>C	TOPMed,gnomAD
rs756933002	p.Ala281Val	missense variant	-	NC_000016.10:g.53675057G>A	ExAC,TOPMed,gnomAD
rs763859389	p.Met285Val	missense variant	-	NC_000016.10:g.53675046T>C	ExAC,TOPMed,gnomAD
rs772520453	p.Met285Thr	missense variant	-	NC_000016.10:g.53675045A>G	ExAC,TOPMed,gnomAD
rs201110897	p.Lys288Gln	missense variant	-	NC_000016.10:g.53675037T>G	1000Genomes,ExAC,gnomAD
rs1236687801	p.Gln291Arg	missense variant	-	NC_000016.10:g.53675027T>C	TOPMed
rs1456427699	p.Gln291Ter	stop gained	-	NC_000016.10:g.53675028G>A	gnomAD
rs766783686	p.Gln293Glu	missense variant	-	NC_000016.10:g.53675022G>C	ExAC,gnomAD
rs550484136	p.Arg297Thr	missense variant	-	NC_000016.10:g.53673009C>G	1000Genomes,TOPMed,gnomAD
rs550484136	p.Arg297Lys	missense variant	-	NC_000016.10:g.53673009C>T	1000Genomes,TOPMed,gnomAD
rs1260500377	p.Thr298Ile	missense variant	-	NC_000016.10:g.53673006G>A	gnomAD
rs1376861368	p.Ser302Gly	missense variant	-	NC_000016.10:g.53672995T>C	gnomAD
rs758129114	p.His303Arg	missense variant	-	NC_000016.10:g.53672991T>C	ExAC,gnomAD
RCV000270824	p.Asp304Asn	missense variant	-	NC_000016.10:g.53672989C>T	ClinVar
rs530772984	p.Asp304Asn	missense variant	-	NC_000016.10:g.53672989C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000800938	p.Asp304Asn	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53672989C>T	ClinVar
rs764733447	p.Ala305Thr	missense variant	-	NC_000016.10:g.53672986C>T	ExAC,gnomAD
rs756562582	p.Ala305Asp	missense variant	-	NC_000016.10:g.53672985G>T	ExAC,gnomAD
rs375940414	p.Met307Leu	missense variant	-	NC_000016.10:g.53672980T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768051049	p.Met307Ile	missense variant	-	NC_000016.10:g.53672978C>T	ExAC,TOPMed,gnomAD
rs774832075	p.Asn314Ser	missense variant	-	NC_000016.10:g.53672958T>C	ExAC,gnomAD
rs1443412610	p.Met315Thr	missense variant	-	NC_000016.10:g.53672955A>G	gnomAD
rs372720935	p.Met315Leu	missense variant	-	NC_000016.10:g.53672956T>G	ESP,ExAC,gnomAD
rs763237910	p.Gln316His	missense variant	-	NC_000016.10:g.53672951T>G	ExAC,gnomAD
rs183419371	p.Arg321His	missense variant	-	NC_000016.10:g.53672937C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200702823	p.Arg321Cys	missense variant	-	NC_000016.10:g.53672938G>A	TOPMed,gnomAD
RCV000375576	p.Arg321His	missense variant	-	NC_000016.10:g.53672937C>T	ClinVar
rs1289804735	p.Cys324Trp	missense variant	-	NC_000016.10:g.53672927G>C	gnomAD
rs745997546	p.Cys324Ser	missense variant	-	NC_000016.10:g.53672928C>G	ExAC,TOPMed,gnomAD
RCV000636961	p.Cys325Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53672927del	ClinVar
rs776680083	p.Leu327Arg	missense variant	-	NC_000016.10:g.53672919A>C	ExAC,gnomAD
rs1192616333	p.Leu327Phe	missense variant	-	NC_000016.10:g.53672920G>A	TOPMed
rs771058410	p.Gln330Glu	missense variant	-	NC_000016.10:g.53672911G>C	ExAC
rs1225415393	p.Leu331Ser	missense variant	-	NC_000016.10:g.53672907A>G	gnomAD
rs777640910	p.Ser333Phe	missense variant	-	NC_000016.10:g.53672901G>A	ExAC,gnomAD
rs1294823376	p.Met334Ile	missense variant	-	NC_000016.10:g.53672897C>T	gnomAD
rs1182455258	p.Met334Val	missense variant	-	NC_000016.10:g.53672899T>C	gnomAD
rs757924515	p.Ser337Thr	missense variant	-	NC_000016.10:g.53672890A>T	ExAC,gnomAD
rs747867189	p.Ser337Phe	missense variant	-	NC_000016.10:g.53672889G>A	ExAC,TOPMed,gnomAD
rs1300821962	p.Glu338Lys	missense variant	-	NC_000016.10:g.53672887C>T	gnomAD
rs1423601175	p.Arg340Lys	missense variant	-	NC_000016.10:g.53672880C>T	gnomAD
rs121918202	p.Gln345Ter	stop gained	-	NC_000016.10:g.53671580G>A	TOPMed
RCV000001128	p.Gln345Ter	nonsense	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53671580G>A	ClinVar
rs757664687	p.Asp350His	missense variant	-	NC_000016.10:g.53671565C>G	ExAC,gnomAD
rs1200662096	p.Glu352Gly	missense variant	-	NC_000016.10:g.53671558T>C	gnomAD
rs752128105	p.Glu354Gly	missense variant	-	NC_000016.10:g.53671552T>C	ExAC,TOPMed,gnomAD
RCV000519061	p.Glu354Gly	missense variant	-	NC_000016.10:g.53671552T>C	ClinVar
rs758759988	p.Arg355Gln	missense variant	-	NC_000016.10:g.53671549C>T	ExAC,TOPMed,gnomAD
rs778195218	p.Arg355Trp	missense variant	-	NC_000016.10:g.53671550G>A	ExAC,gnomAD
rs1324030666	p.Leu357Pro	missense variant	-	NC_000016.10:g.53671543A>G	gnomAD
RCV000723141	p.Leu358Ter	frameshift	-	NC_000016.10:g.53671543dup	ClinVar
rs147295026	p.Leu358Val	missense variant	-	NC_000016.10:g.53671541A>C	ESP,ExAC,TOPMed,gnomAD
RCV000474386	p.Leu358Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53671542_53671543dup	ClinVar
rs376720589	p.Asn361Asp	missense variant	-	NC_000016.10:g.53671532T>C	ESP,ExAC,TOPMed,gnomAD
rs144023021	p.Tyr362Cys	missense variant	-	NC_000016.10:g.53671528T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000362256	p.Tyr362Cys	missense variant	Nephronophthisis	NC_000016.10:g.53671528T>C	ClinVar
RCV000308698	p.Tyr362Cys	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53671528T>C	ClinVar
RCV000272277	p.Tyr362Cys	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53671528T>C	ClinVar
rs1448419533	p.Asp363Glu	missense variant	-	NC_000016.10:g.53671524A>T	gnomAD
rs1404503100	p.Lys364Glu	missense variant	-	NC_000016.10:g.53671523T>C	gnomAD
rs1427700065	p.Tyr366His	missense variant	-	NC_000016.10:g.53671517A>G	gnomAD
rs369771829	p.Ser371Thr	missense variant	-	NC_000016.10:g.53665001C>G	ESP,ExAC,TOPMed,gnomAD
rs369771829	p.Ser371Asn	missense variant	-	NC_000016.10:g.53665001C>T	ESP,ExAC,TOPMed,gnomAD
rs776018450	p.Ala373Asp	missense variant	-	NC_000016.10:g.53664995G>T	ExAC,gnomAD
rs776018450	p.Ala373Val	missense variant	-	NC_000016.10:g.53664995G>A	ExAC,gnomAD
rs200773352	p.His374Tyr	missense variant	-	NC_000016.10:g.53664993G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748700646	p.His374Arg	missense variant	-	NC_000016.10:g.53664992T>C	ExAC,TOPMed,gnomAD
RCV000229421	p.His374Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53664995del	ClinVar
rs753220720	p.Gln377Pro	missense variant	-	NC_000016.10:g.53664983T>G	TOPMed
rs749735117	p.Trp378Gly	missense variant	-	NC_000016.10:g.53664981A>C	ExAC,gnomAD
RCV000201745	p.Trp378Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53664981del	ClinVar
rs949199630	p.Lys381Asn	missense variant	-	NC_000016.10:g.53664970C>G	TOPMed,gnomAD
rs756300439	p.Glu382Lys	missense variant	-	NC_000016.10:g.53664969C>T	ExAC,gnomAD
rs750446830	p.Leu385Arg	missense variant	-	NC_000016.10:g.53664959A>C	ExAC,TOPMed,gnomAD
RCV000339807	p.Lys386Glu	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53664957T>C	ClinVar
RCV000697464	p.Lys386Glu	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664957T>C	ClinVar
rs137982921	p.Lys386Glu	missense variant	-	NC_000016.10:g.53664957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489705936	p.Lys386Arg	missense variant	-	NC_000016.10:g.53664956T>C	gnomAD
RCV000307599	p.Lys386Glu	missense variant	Nephronophthisis	NC_000016.10:g.53664957T>C	ClinVar
RCV000724780	p.Lys386Glu	missense variant	-	NC_000016.10:g.53664957T>C	ClinVar
RCV000401583	p.Lys386Glu	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664957T>C	ClinVar
RCV000765297	p.Lys386Glu	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53664957T>C	ClinVar
RCV000195016	p.Val387Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53664957dup	ClinVar
rs764057006	p.Val387Glu	missense variant	-	NC_000016.10:g.53664953A>T	ExAC,TOPMed,gnomAD
rs181526554	p.Gln388Arg	missense variant	-	NC_000016.10:g.53664950T>C	1000Genomes
rs762734140	p.Gln388Lys	missense variant	-	NC_000016.10:g.53664951G>T	ExAC,gnomAD
RCV000558975	p.Ile389Val	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664948T>C	ClinVar
rs79708859	p.Ile389Val	missense variant	-	NC_000016.10:g.53664948T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1271430052	p.Ile389Met	missense variant	-	NC_000016.10:g.53664946A>C	TOPMed,gnomAD
rs767581853	p.Gln391Arg	missense variant	-	NC_000016.10:g.53664941T>C	gnomAD
rs375776718	p.Glu393Lys	missense variant	-	NC_000016.10:g.53664936C>T	ESP,ExAC,TOPMed,gnomAD
rs375776718	p.Glu393Gln	missense variant	-	NC_000016.10:g.53664936C>G	ESP,ExAC,TOPMed,gnomAD
rs1028865384	p.Thr394Ile	missense variant	-	NC_000016.10:g.53664932G>A	TOPMed
rs1345088963	p.Ala395Val	missense variant	-	NC_000016.10:g.53664929G>A	gnomAD
rs571212511	p.Lys397Thr	missense variant	-	NC_000016.10:g.53664923T>G	1000Genomes,ExAC,gnomAD
rs774992231	p.Ser398Cys	missense variant	-	NC_000016.10:g.53664920G>C	ExAC,gnomAD
rs1169906898	p.Asp399Val	missense variant	-	NC_000016.10:g.53664917T>A	gnomAD
rs1352854864	p.Asp399Tyr	missense variant	-	NC_000016.10:g.53664918C>A	gnomAD
rs1172509858	p.Thr401Ile	missense variant	-	NC_000016.10:g.53664911G>A	gnomAD
rs769340868	p.Thr401Ala	missense variant	-	NC_000016.10:g.53664912T>C	ExAC,gnomAD
rs780281843	p.Ile406Thr	missense variant	-	NC_000016.10:g.53664896A>G	ExAC,TOPMed,gnomAD
rs149234255	p.Ile406Val	missense variant	-	NC_000016.10:g.53664897T>C	ESP,ExAC,TOPMed,gnomAD
rs1489136375	p.Asp408Glu	missense variant	-	NC_000016.10:g.53664889G>T	gnomAD
rs1191426587	p.Asp408Gly	missense variant	-	NC_000016.10:g.53664890T>C	gnomAD
rs1230675792	p.Leu410Ter	stop gained	-	NC_000016.10:g.53664884A>C	gnomAD
rs1203278799	p.Leu410Phe	missense variant	-	NC_000016.10:g.53664883T>G	TOPMed,gnomAD
rs1458590403	p.Thr412Ile	missense variant	-	NC_000016.10:g.53664878G>A	gnomAD
rs756318606	p.Arg414Ser	missense variant	-	NC_000016.10:g.53664871T>G	ExAC,gnomAD
rs1263265387	p.Gln416Lys	missense variant	-	NC_000016.10:g.53658876G>T	TOPMed
rs753413251	p.Gln416Pro	missense variant	-	NC_000016.10:g.53658875T>G	ExAC,gnomAD
rs976533506	p.Lys419Asn	missense variant	-	NC_000016.10:g.53658865T>A	gnomAD
rs766178470	p.Lys419Glu	missense variant	-	NC_000016.10:g.53658867T>C	ExAC,gnomAD
rs138383101	p.Val421Ile	missense variant	-	NC_000016.10:g.53658861C>T	ESP,ExAC,TOPMed,gnomAD
rs138383101	p.Val421Phe	missense variant	-	NC_000016.10:g.53658861C>A	ESP,ExAC,TOPMed,gnomAD
rs1467430359	p.Arg425Gly	missense variant	-	NC_000016.10:g.53658849T>C	gnomAD
rs1397824321	p.Arg425Lys	missense variant	-	NC_000016.10:g.53658848C>T	gnomAD
rs150099624	p.Leu427Pro	missense variant	-	NC_000016.10:g.53658842A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150099624	p.Leu427Gln	missense variant	-	NC_000016.10:g.53658842A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746337296	p.Leu429Val	missense variant	-	NC_000016.10:g.53658837A>C	gnomAD
rs770032567	p.Gln430Leu	missense variant	-	NC_000016.10:g.53658833T>A	ExAC,TOPMed,gnomAD
rs530021626	p.Glu433Lys	missense variant	-	NC_000016.10:g.53658825C>T	1000Genomes,ExAC,gnomAD
rs1176573181	p.Gln434Arg	missense variant	-	NC_000016.10:g.53658821T>C	TOPMed
rs1318779991	p.Leu438Val	missense variant	-	NC_000016.10:g.53658810G>C	gnomAD
rs375983658	p.Asp439Gly	missense variant	-	NC_000016.10:g.53658806T>C	ESP,ExAC,TOPMed,gnomAD
rs777834264	p.Lys443Asn	missense variant	-	NC_000016.10:g.53658793T>G	ExAC,TOPMed,gnomAD
RCV000690667	p.Arg444Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53658798dup	ClinVar
RCV000727930	p.Arg444Ter	frameshift	-	NC_000016.10:g.53658798dup	ClinVar
RCV000397997	p.Arg444His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53658791C>T	ClinVar
rs1296403401	p.Arg444Cys	missense variant	-	NC_000016.10:g.53658792G>A	TOPMed
RCV000336182	p.Arg444His	missense variant	Nephronophthisis	NC_000016.10:g.53658791C>T	ClinVar
rs76600508	p.Arg444His	missense variant	-	NC_000016.10:g.53658791C>T	ESP,ExAC,TOPMed,gnomAD
rs76600508	p.Arg444Leu	missense variant	-	NC_000016.10:g.53658791C>A	ESP,ExAC,TOPMed,gnomAD
RCV000305923	p.Arg444His	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53658791C>T	ClinVar
rs140876280	p.Ile445Val	missense variant	-	NC_000016.10:g.53658789T>C	ESP,ExAC,TOPMed,gnomAD
rs1289666215	p.Lys446Arg	missense variant	-	NC_000016.10:g.53658785T>C	gnomAD
rs138155747	p.Leu447Ser	missense variant	-	NC_000016.10:g.53658782A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61743997	p.Leu447Phe	missense variant	-	NC_000016.10:g.53658781C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753722384	p.Leu447Met	missense variant	-	NC_000016.10:g.53658783A>T	ExAC
RCV000223981	p.Leu447Ser	missense variant	-	NC_000016.10:g.53658782A>G	ClinVar
rs1397513237	p.Tyr448His	missense variant	-	NC_000016.10:g.53658780A>G	gnomAD
rs749908995	p.Gln450Glu	missense variant	-	NC_000016.10:g.53658774G>C	ExAC,gnomAD
rs1198443260	p.Asp453Val	missense variant	-	NC_000016.10:g.53658457T>A	gnomAD
rs1452186837	p.Ile454Val	missense variant	-	NC_000016.10:g.53658455T>C	gnomAD
rs765606715	p.Ile454Ser	missense variant	-	NC_000016.10:g.53658454A>C	ExAC,gnomAD
rs760095949	p.Asp457Asn	missense variant	-	NC_000016.10:g.53658446C>T	ExAC,TOPMed,gnomAD
rs776941281	p.Glu458Lys	missense variant	-	NC_000016.10:g.53658443C>T	ExAC,TOPMed,gnomAD
rs776941281	p.Glu458Ter	stop gained	-	NC_000016.10:g.53658443C>A	ExAC,TOPMed,gnomAD
rs1430832205	p.Leu459Trp	missense variant	-	NC_000016.10:g.53658439A>C	TOPMed
rs1218959399	p.Glu461Asp	missense variant	-	NC_000016.10:g.53658432T>G	gnomAD
rs761080809	p.Ala462Val	missense variant	-	NC_000016.10:g.53658430G>A	ExAC,gnomAD
rs758403877	p.Leu465Phe	missense variant	-	NC_000016.10:g.53658422G>A	TOPMed
rs199786347	p.Ile466Lys	missense variant	-	NC_000016.10:g.53658418A>T	ESP,ExAC,TOPMed,gnomAD
rs199786347	p.Ile466Arg	missense variant	-	NC_000016.10:g.53658418A>C	ESP,ExAC,TOPMed,gnomAD
rs199786347	p.Ile466Thr	missense variant	-	NC_000016.10:g.53658418A>G	ESP,ExAC,TOPMed,gnomAD
rs1310552754	p.Ala468Thr	missense variant	-	NC_000016.10:g.53657632C>T	gnomAD
rs140350421	p.Ala468Val	missense variant	-	NC_000016.10:g.53657631G>A	ESP,ExAC,TOPMed,gnomAD
rs773626689	p.Gln469Glu	missense variant	-	NC_000016.10:g.53657629G>C	ExAC,gnomAD
rs773626689	p.Gln469Lys	missense variant	-	NC_000016.10:g.53657629G>T	ExAC,gnomAD
rs1333902843	p.Glu471Lys	missense variant	-	NC_000016.10:g.53657623C>T	TOPMed,gnomAD
rs1415430987	p.Gln472Lys	missense variant	-	NC_000016.10:g.53657620G>T	gnomAD
rs1415430987	p.Gln472Glu	missense variant	-	NC_000016.10:g.53657620G>C	gnomAD
rs769686672	p.Lys473Asn	missense variant	-	NC_000016.10:g.53657615T>G	ExAC,TOPMed,gnomAD
RCV000310502	p.Lys473Asn	missense variant	-	NC_000016.10:g.53657615T>G	ClinVar
RCV000256103	p.Asn474Ter	frameshift	-	NC_000016.10:g.53657619del	ClinVar
rs1157057714	p.Gly475Arg	missense variant	-	NC_000016.10:g.53657611C>T	gnomAD
rs762123566	p.Leu477Pro	missense variant	-	NC_000016.10:g.53657604A>G	ExAC,TOPMed,gnomAD
rs1419099886	p.del477SerIleTerLysIleAsnHisGlnAsnIleIleGluAsnLeu	stop gained	-	NC_000016.10:g.53657605_53657606insTAAGTTTTCTATAATATTCTGATGATTTATTTTCTAAATACT	gnomAD
rs372848686	p.Ser478Phe	missense variant	-	NC_000016.10:g.53657601G>A	ESP
rs146565951	p.Val483Ala	missense variant	-	NC_000016.10:g.53657586A>G	ESP,ExAC,TOPMed,gnomAD
rs1021097347	p.Asp484Gly	missense variant	-	NC_000016.10:g.53657583T>C	TOPMed,gnomAD
rs749419261	p.Ser485Asn	missense variant	-	NC_000016.10:g.53657580C>T	ExAC,TOPMed,gnomAD
rs1441624056	p.Glu486Lys	missense variant	-	NC_000016.10:g.53657578C>T	gnomAD
rs909072925	p.Asn488Asp	missense variant	-	NC_000016.10:g.53657572T>C	gnomAD
rs1352619685	p.Asp490Val	missense variant	-	NC_000016.10:g.53657565T>A	gnomAD
rs984578002	p.Asp490Glu	missense variant	-	NC_000016.10:g.53657564A>C	TOPMed,gnomAD
rs1357891038	p.Leu491Pro	missense variant	-	NC_000016.10:g.53657562A>G	TOPMed,gnomAD
rs1241751719	p.Leu491Val	missense variant	-	NC_000016.10:g.53657563G>C	gnomAD
rs148967550	p.Arg493His	missense variant	-	NC_000016.10:g.53657556C>T	ESP,ExAC,TOPMed,gnomAD
rs775563304	p.Arg493Cys	missense variant	-	NC_000016.10:g.53657557G>A	ExAC,TOPMed,gnomAD
RCV000484670	p.Ser494Ala	missense variant	-	NC_000016.10:g.53657554A>C	ClinVar
rs202201818	p.Ser494Ala	missense variant	-	NC_000016.10:g.53657554A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202201818	p.Ser494Pro	missense variant	-	NC_000016.10:g.53657554A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781046784	p.Met495Leu	missense variant	-	NC_000016.10:g.53657551T>G	ExAC,TOPMed,gnomAD
rs781046784	p.Met495Val	missense variant	-	NC_000016.10:g.53657551T>C	ExAC,TOPMed,gnomAD
RCV000797386	p.Glu497Ter	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53657545C>A	ClinVar
rs756821449	p.Glu497Ter	stop gained	-	NC_000016.10:g.53657545C>A	ExAC,TOPMed,gnomAD
RCV000365145	p.Glu497Ter	nonsense	-	NC_000016.10:g.53657545C>A	ClinVar
rs777340505	p.Leu498Met	missense variant	-	NC_000016.10:g.53657542G>T	ExAC,gnomAD
rs1029054579	p.Ala500Glu	missense variant	-	NC_000016.10:g.53657535G>T	TOPMed,gnomAD
rs757876513	p.Ala500Thr	missense variant	-	NC_000016.10:g.53657536C>T	ExAC,gnomAD
rs1029054579	p.Ala500Gly	missense variant	-	NC_000016.10:g.53657535G>C	TOPMed,gnomAD
rs752275762	p.Thr505Met	missense variant	-	NC_000016.10:g.53657520G>A	ExAC,gnomAD
rs780528142	p.Leu509Met	missense variant	-	NC_000016.10:g.53657509G>T	ExAC,TOPMed,gnomAD
rs145704610	p.Arg513Gly	missense variant	-	NC_000016.10:g.53657497T>C	ESP,ExAC,TOPMed,gnomAD
rs767943403	p.Leu516Val	missense variant	-	NC_000016.10:g.53657488G>C	ExAC,TOPMed,gnomAD
rs762130344	p.Met518Val	missense variant	-	NC_000016.10:g.53657482T>C	ExAC,TOPMed,gnomAD
rs1377168514	p.His520Gln	missense variant	-	NC_000016.10:g.53657474G>C	TOPMed
rs1359160464	p.Asn523Ile	missense variant	-	NC_000016.10:g.53657466T>A	gnomAD
rs371841392	p.Asp525Gly	missense variant	-	NC_000016.10:g.53657460T>C	ExAC,gnomAD
RCV000333551	p.Met528Ile	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53656587C>T	ClinVar
rs886052097	p.Met528Ile	missense variant	-	NC_000016.10:g.53656587C>T	-
RCV000385963	p.Met528Ile	missense variant	Nephronophthisis	NC_000016.10:g.53656587C>T	ClinVar
RCV000294003	p.Met528Ile	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53656587C>T	ClinVar
rs1470256833	p.Val530Ile	missense variant	-	NC_000016.10:g.53656583C>T	gnomAD
RCV000174776	p.Glu531Gly	missense variant	-	NC_000016.10:g.53656579T>C	ClinVar
rs794727129	p.Glu531Gly	missense variant	-	NC_000016.10:g.53656579T>C	TOPMed,gnomAD
rs781586792	p.Ala532Ser	missense variant	-	NC_000016.10:g.53656577C>A	ExAC,TOPMed,gnomAD
rs1396529919	p.Thr534Ile	missense variant	-	NC_000016.10:g.53656570G>A	gnomAD
rs1438758355	p.Thr534Ala	missense variant	-	NC_000016.10:g.53656571T>C	gnomAD
rs149781516	p.Arg535Cys	missense variant	-	NC_000016.10:g.53656568G>A	ESP,ExAC,TOPMed,gnomAD
rs149781516	p.Arg535Ser	missense variant	-	NC_000016.10:g.53656568G>T	ESP,ExAC,TOPMed,gnomAD
rs371028848	p.Arg535His	missense variant	-	NC_000016.10:g.53656567C>T	ESP,ExAC,TOPMed,gnomAD
rs763271989	p.Lys536Gln	missense variant	-	NC_000016.10:g.53656565T>G	ExAC,gnomAD
rs752785301	p.Met537Thr	missense variant	-	NC_000016.10:g.53656561A>G	ExAC,TOPMed,gnomAD
rs996082143	p.Met537Val	missense variant	-	NC_000016.10:g.53656562T>C	gnomAD
rs996082143	p.Met537Leu	missense variant	-	NC_000016.10:g.53656562T>G	gnomAD
rs1424092711	p.Glu538Lys	missense variant	-	NC_000016.10:g.53656559C>T	gnomAD
rs1191220993	p.Asn539Asp	missense variant	-	NC_000016.10:g.53656556T>C	gnomAD
rs1478742985	p.Leu540Val	missense variant	-	NC_000016.10:g.53656553A>C	gnomAD
rs765430813	p.Leu540Phe	missense variant	-	NC_000016.10:g.53656551C>A	ExAC,gnomAD
rs1397929380	p.Gln541Lys	missense variant	-	NC_000016.10:g.53656550G>T	TOPMed
rs776600721	p.Asp543Gly	missense variant	-	NC_000016.10:g.53656543T>C	ExAC,TOPMed,gnomAD
rs748010169	p.Asp543Asn	missense variant	-	NC_000016.10:g.53656544C>T	ExAC,TOPMed,gnomAD
rs748010169	p.Asp543Tyr	missense variant	-	NC_000016.10:g.53656544C>A	ExAC,TOPMed,gnomAD
rs139964287	p.Tyr544Cys	missense variant	-	NC_000016.10:g.53656540T>C	ESP,ExAC,TOPMed,gnomAD
rs770842770	p.Tyr544Asp	missense variant	-	NC_000016.10:g.53656541A>C	ExAC,gnomAD
rs147331527	p.Leu546Phe	missense variant	-	NC_000016.10:g.53656535G>A	UniProt,dbSNP
VAR_066479	p.Leu546Phe	missense variant	-	NC_000016.10:g.53656535G>A	UniProt
rs147331527	p.Leu546Phe	missense variant	-	NC_000016.10:g.53656535G>A	ESP,gnomAD
rs1374790196	p.Val548Glu	missense variant	-	NC_000016.10:g.53656528A>T	gnomAD
rs772900011	p.Gln550Arg	missense variant	-	NC_000016.10:g.53656522T>C	ExAC,gnomAD
rs1307023675	p.Tyr551Cys	missense variant	-	NC_000016.10:g.53656519T>C	gnomAD
rs747816609	p.Tyr551Ter	stop gained	-	NC_000016.10:g.53656518A>C	ExAC,gnomAD
rs145516192	p.His553Asn	missense variant	-	NC_000016.10:g.53656514G>T	ESP,gnomAD
rs778581201	p.His553Arg	missense variant	-	NC_000016.10:g.53656513T>C	ExAC,TOPMed,gnomAD
RCV000480416	p.Leu554Ile	missense variant	-	NC_000016.10:g.53656511G>T	ClinVar
RCV000765296	p.Leu554Ile	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53656511G>T	ClinVar
rs79524027	p.Leu554Ile	missense variant	-	NC_000016.10:g.53656511G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs536811482	p.Ile557Thr	missense variant	-	NC_000016.10:g.53656501A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000276180	p.Arg561His	missense variant	Nephronophthisis	NC_000016.10:g.53656489C>T	ClinVar
rs781713688	p.Arg561Cys	missense variant	-	NC_000016.10:g.53656490G>A	ExAC,TOPMed,gnomAD
rs147366111	p.Arg561His	missense variant	-	NC_000016.10:g.53656489C>T	ESP,ExAC,TOPMed,gnomAD
RCV000725929	p.Arg561His	missense variant	-	NC_000016.10:g.53656489C>T	ClinVar
RCV000382161	p.Arg561His	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53656489C>T	ClinVar
RCV000325211	p.Arg561His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53656489C>T	ClinVar
rs747330641	p.Ile562Met	missense variant	-	NC_000016.10:g.53656485G>C	ExAC,gnomAD
rs1177538537	p.His563Arg	missense variant	-	NC_000016.10:g.53656483T>C	gnomAD
rs1413038780	p.Lys564Glu	missense variant	-	NC_000016.10:g.53656481T>C	gnomAD
rs1180428100	p.Glu566Asp	missense variant	-	NC_000016.10:g.53656473T>G	gnomAD
rs1265079551	p.Ala567Thr	missense variant	-	NC_000016.10:g.53656472C>T	TOPMed
rs553739434	p.Ala567Val	missense variant	-	NC_000016.10:g.53652987G>A	1000Genomes,ExAC,gnomAD
rs1349804201	p.Gln568Ter	stop gained	-	NC_000016.10:g.53652985G>A	gnomAD
rs111459222	p.Lys570Arg	missense variant	-	NC_000016.10:g.53652978T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000636947	p.Lys570Arg	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652978T>C	ClinVar
RCV000168109	p.Asp571Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53652980dup	ClinVar
RCV000201673	p.Asp571Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652980dup	ClinVar
rs941136020	p.Ile572Val	missense variant	-	NC_000016.10:g.53652973T>C	TOPMed,gnomAD
RCV000201652	p.Tyr574Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652966del	ClinVar
rs766404857	p.Tyr574Cys	missense variant	-	NC_000016.10:g.53652966T>C	ExAC,TOPMed,gnomAD
rs1291357029	p.Gly575Asp	missense variant	-	NC_000016.10:g.53652963C>T	gnomAD
RCV000723009	p.Lys577Ter	nonsense	-	NC_000016.10:g.53652958T>A	ClinVar
RCV000321854	p.Tyr579Cys	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652951T>C	ClinVar
rs148230131	p.Tyr579Cys	missense variant	-	NC_000016.10:g.53652951T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000224936	p.Tyr579Cys	missense variant	-	NC_000016.10:g.53652951T>C	ClinVar
RCV000364967	p.Tyr579Cys	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652951T>C	ClinVar
RCV000272739	p.Tyr579Cys	missense variant	Nephronophthisis	NC_000016.10:g.53652951T>C	ClinVar
rs1163810944	p.Lys580Arg	missense variant	-	NC_000016.10:g.53652948T>C	TOPMed
rs1369600670	p.Lys582Thr	missense variant	-	NC_000016.10:g.53652942T>G	gnomAD
rs548348340	p.Pro583Arg	missense variant	-	NC_000016.10:g.53652939G>C	1000Genomes,ExAC,gnomAD
rs1423101482	p.Ile585Thr	missense variant	-	NC_000016.10:g.53652933A>G	gnomAD
rs761581572	p.Asp588Glu	missense variant	-	NC_000016.10:g.53652923A>C	ExAC,TOPMed,gnomAD
rs774143215	p.Ser590Thr	missense variant	-	NC_000016.10:g.53652919A>T	ExAC,gnomAD
RCV000457593	p.Val591Ala	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652915A>G	ClinVar
RCV000765295	p.Val591Ala	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652915A>G	ClinVar
rs201131571	p.Val591Ala	missense variant	-	NC_000016.10:g.53652915A>G	ESP,ExAC,TOPMed,gnomAD
rs762543434	p.Asp592His	missense variant	-	NC_000016.10:g.53652913C>G	ExAC,gnomAD
rs1215288619	p.Asp592Gly	missense variant	-	NC_000016.10:g.53652912T>C	gnomAD
rs1351339269	p.Glu593Lys	missense variant	-	NC_000016.10:g.53652910C>T	TOPMed
rs1277110713	p.Phe594Val	missense variant	-	NC_000016.10:g.53652907A>C	gnomAD
rs775017742	p.Asp595Glu	missense variant	-	NC_000016.10:g.53652902A>T	ExAC,gnomAD
rs769164576	p.Ile598Val	missense variant	-	NC_000016.10:g.53652895T>C	ExAC,gnomAD
rs745413543	p.Arg602Ter	stop gained	-	NC_000016.10:g.53652883G>A	ExAC,TOPMed,gnomAD
rs902687917	p.Arg602Gln	missense variant	-	NC_000016.10:g.53652882C>T	TOPMed,gnomAD
rs537925312	p.Gly603Asp	missense variant	-	NC_000016.10:g.53652879C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000726350	p.Glu604Lys	missense variant	-	NC_000016.10:g.53652877C>T	ClinVar
RCV000765294	p.Glu604Lys	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652877C>T	ClinVar
RCV000264423	p.Glu604Lys	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652877C>T	ClinVar
rs143863631	p.Glu604Lys	missense variant	-	NC_000016.10:g.53652877C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000303891	p.Glu604Lys	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652877C>T	ClinVar
RCV000361003	p.Glu604Lys	missense variant	Nephronophthisis	NC_000016.10:g.53652877C>T	ClinVar
rs1376182209	p.Asn605Thr	missense variant	-	NC_000016.10:g.53652873T>G	gnomAD
rs1357865643	p.Leu606Arg	missense variant	-	NC_000016.10:g.53652870A>C	TOPMed
rs552056656	p.Leu606Val	missense variant	-	NC_000016.10:g.53652871G>C	1000Genomes,ExAC,gnomAD
rs1253471713	p.Phe607Ser	missense variant	-	NC_000016.10:g.53652867A>G	gnomAD
RCV000049974	p.His610Pro	missense variant	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53652858T>G	ClinVar
rs386833997	p.His610Arg	missense variant	-	NC_000016.10:g.53652858T>C	ExAC,TOPMed,gnomAD
rs386833997	p.His610Pro	missense variant	-	NC_000016.10:g.53652858T>G	ExAC,TOPMed,gnomAD
rs758067896	p.Ile611Val	missense variant	-	NC_000016.10:g.53652856T>C	gnomAD
rs756141067	p.Ile611Met	missense variant	-	NC_000016.10:g.53652854G>C	ExAC,gnomAD
rs931736156	p.Ile611Thr	missense variant	-	NC_000016.10:g.53652855A>G	TOPMed
rs750811808	p.Val614Ile	missense variant	-	NC_000016.10:g.53652847C>T	ExAC,TOPMed,gnomAD
rs750811808	p.Val614Leu	missense variant	-	NC_000016.10:g.53652847C>G	ExAC,TOPMed,gnomAD
rs751316007	p.Thr615Ile	missense variant	-	NC_000016.10:g.53652843G>A	ExAC,TOPMed,gnomAD
rs751316007	p.Thr615Asn	missense variant	-	NC_000016.10:g.53652843G>T	ExAC,TOPMed,gnomAD
rs121918198	p.Thr615Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	UniProt,dbSNP
VAR_039393	p.Thr615Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	UniProt
rs121918198	p.Thr615Pro	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652844T>G	ExAC,TOPMed,gnomAD
RCV000393725	p.Thr615Pro	missense variant	-	NC_000016.10:g.53652844T>G	ClinVar
RCV000689745	p.Thr615Pro	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652844T>G	ClinVar
RCV000001124	p.Thr615Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	ClinVar
rs1376864105	p.Glu619Ter	stop gained	-	NC_000016.10:g.53652832C>A	gnomAD
rs752260669	p.Leu621Ser	missense variant	-	NC_000016.10:g.53652825A>G	ExAC,gnomAD
rs759105761	p.Gln622Ter	stop gained	-	NC_000016.10:g.53652823G>A	ExAC,gnomAD
rs1256127463	p.Gln622Arg	missense variant	-	NC_000016.10:g.53652822T>C	gnomAD
rs776297522	p.Ala623Pro	missense variant	-	NC_000016.10:g.53652820C>G	ExAC,TOPMed,gnomAD
rs1156977888	p.Gly625Arg	missense variant	-	NC_000016.10:g.53652814C>T	gnomAD
rs1437729375	p.Asp626Gly	missense variant	-	NC_000016.10:g.53652810T>C	gnomAD
rs377035693	p.Lys627Thr	missense variant	-	NC_000016.10:g.53652807T>G	ESP,ExAC,TOPMed,gnomAD
rs1439349181	p.Glu628Gly	missense variant	-	NC_000016.10:g.53652804T>C	gnomAD
rs374098422	p.Pro629Leu	missense variant	-	NC_000016.10:g.53652801G>A	ESP,ExAC,TOPMed,gnomAD
rs369873356	p.Val630Ile	missense variant	-	NC_000016.10:g.53652799C>T	ESP,ExAC,TOPMed,gnomAD
RCV000723021	p.Thr631Ile	missense variant	-	NC_000016.10:g.53652795G>A	ClinVar
rs1381232476	p.Phe632Cys	missense variant	-	NC_000016.10:g.53652792A>C	TOPMed
rs898062661	p.Cys633Arg	missense variant	-	NC_000016.10:g.53652790A>G	TOPMed
rs1353551542	p.Tyr635Ter	stop gained	-	NC_000016.10:g.53652782A>C	TOPMed,gnomAD
rs770013793	p.Tyr635Cys	missense variant	-	NC_000016.10:g.53652783T>C	ExAC,TOPMed,gnomAD
rs1307352779	p.Tyr635His	missense variant	-	NC_000016.10:g.53652784A>G	TOPMed
rs981992752	p.Tyr638Cys	missense variant	-	NC_000016.10:g.53652774T>C	TOPMed,gnomAD
rs1339088555	p.Phe640Cys	missense variant	-	NC_000016.10:g.53652768A>C	gnomAD
rs1396819326	p.Leu642Pro	missense variant	-	NC_000016.10:g.53652762A>G	gnomAD
rs1286293983	p.Thr644Ala	missense variant	-	NC_000016.10:g.53652757T>C	gnomAD
rs1241919236	p.Thr645Pro	missense variant	-	NC_000016.10:g.53652754T>G	TOPMed
rs1442222835	p.Pro646Ser	missense variant	-	NC_000016.10:g.53652751G>A	TOPMed
rs145572901	p.Val647Ile	missense variant	-	NC_000016.10:g.53652748C>T	UniProt,dbSNP
VAR_066480	p.Val647Ile	missense variant	-	NC_000016.10:g.53652748C>T	UniProt
rs145572901	p.Val647Ile	missense variant	-	NC_000016.10:g.53652748C>T	ESP,ExAC,TOPMed,gnomAD
rs751477523	p.Arg649Ter	stop gained	-	NC_000016.10:g.53652742G>A	ExAC,gnomAD
rs560144848	p.Arg649Gln	missense variant	-	NC_000016.10:g.53652741C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752598081	p.Leu651Pro	missense variant	-	NC_000016.10:g.53652735A>G	ExAC,TOPMed,gnomAD
rs1404075819	p.His652Arg	missense variant	-	NC_000016.10:g.53652732T>C	TOPMed
RCV000300536	p.Glu654Lys	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652727C>T	ClinVar
rs141979202	p.Glu654Lys	missense variant	-	NC_000016.10:g.53652727C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201737322	p.Glu654Asp	missense variant	-	NC_000016.10:g.53652725T>A	gnomAD
RCV000352999	p.Glu654Lys	missense variant	Nephronophthisis	NC_000016.10:g.53652727C>T	ClinVar
RCV000402360	p.Glu654Lys	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652727C>T	ClinVar
rs138669723	p.Phe657Leu	missense variant	-	NC_000016.10:g.53652716G>C	ESP,ExAC,TOPMed,gnomAD
rs138669723	p.Phe657Leu	missense variant	-	NC_000016.10:g.53652716G>T	ESP,ExAC,TOPMed,gnomAD
rs766013946	p.Thr658Pro	missense variant	-	NC_000016.10:g.53652715T>G	ExAC,gnomAD
RCV000201757	p.Ser659Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652712A>G	ClinVar
RCV000001135	p.Ser659Pro	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652712A>G	ClinVar
rs267607020	p.Ser659Pro	missense variant	-	NC_000016.10:g.53652712A>G	-
rs267607020	p.Ser659Pro	missense variant	COACH syndrome (COACHS)	NC_000016.10:g.53652712A>G	UniProt,dbSNP
VAR_063805	p.Ser659Pro	missense variant	COACH syndrome (COACHS)	NC_000016.10:g.53652712A>G	UniProt
rs760297229	p.Tyr661Cys	missense variant	-	NC_000016.10:g.53652705T>C	ExAC,gnomAD
rs769261779	p.Val663Leu	missense variant	-	NC_000016.10:g.53652700C>G	ExAC,gnomAD
rs769261779	p.Val663Ile	missense variant	-	NC_000016.10:g.53652700C>T	ExAC,gnomAD
rs769962521	p.His664Pro	missense variant	-	NC_000016.10:g.53652696T>G	ExAC,TOPMed,gnomAD
rs763167296	p.His664Asp	missense variant	-	NC_000016.10:g.53652697G>C	ExAC,TOPMed,gnomAD
rs769962521	p.His664Arg	missense variant	-	NC_000016.10:g.53652696T>C	ExAC,TOPMed,gnomAD
rs746110135	p.Val665Ile	missense variant	-	NC_000016.10:g.53652694C>T	ExAC,gnomAD
rs530081433	p.Asp667Gly	missense variant	-	NC_000016.10:g.53652687T>C	1000Genomes,ExAC,gnomAD
rs770966810	p.Leu670Trp	missense variant	-	NC_000016.10:g.53652678A>C	ExAC,gnomAD
rs747181202	p.Gln671Ter	stop gained	-	NC_000016.10:g.53652676G>A	ExAC,gnomAD
rs913835653	p.Gln671Arg	missense variant	-	NC_000016.10:g.53652675T>C	TOPMed,gnomAD
rs1203965149	p.Tyr672Cys	missense variant	-	NC_000016.10:g.53652672T>C	TOPMed
rs150151416	p.Ile673Asn	missense variant	-	NC_000016.10:g.53652669A>T	ESP,gnomAD
rs150151416	p.Ile673Ser	missense variant	-	NC_000016.10:g.53652669A>C	ESP,gnomAD
RCV000174928	p.Thr677Ile	missense variant	-	NC_000016.10:g.53652657G>A	ClinVar
rs966858228	p.Thr677Ala	missense variant	-	NC_000016.10:g.53652658T>C	TOPMed
rs532768944	p.Thr677Ile	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652657G>A	UniProt,dbSNP
VAR_039394	p.Thr677Ile	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652657G>A	UniProt
rs532768944	p.Thr677Ile	missense variant	-	NC_000016.10:g.53652657G>A	1000Genomes,ExAC,gnomAD
rs958116016	p.Ile678Val	missense variant	-	NC_000016.10:g.53652655T>C	TOPMed,gnomAD
rs958116016	p.Ile678Leu	missense variant	-	NC_000016.10:g.53652655T>G	TOPMed,gnomAD
rs758370789	p.Leu680Phe	missense variant	-	NC_000016.10:g.53652649G>A	ExAC,TOPMed,gnomAD
rs1248595505	p.Val682Gly	missense variant	-	NC_000016.10:g.53652642A>C	TOPMed
RCV000824619	p.Gln684Ter	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53652637G>A	ClinVar
rs121918204	p.Gln684Ter	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652637G>A	ExAC,TOPMed,gnomAD
RCV000001131	p.Gln684Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652637G>A	ClinVar
RCV000762962	p.Gln684Ter	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53652637G>A	ClinVar
rs1218245231	p.Tyr690Cys	missense variant	-	NC_000016.10:g.53652618T>C	gnomAD
rs1271979588	p.Thr692Pro	missense variant	-	NC_000016.10:g.53652613T>G	gnomAD
rs753522757	p.Ile693Val	missense variant	-	NC_000016.10:g.53652610T>C	ExAC,TOPMed,gnomAD
rs766197081	p.Ile693Thr	missense variant	-	NC_000016.10:g.53652609A>G	ExAC,gnomAD
rs749960302	p.Ala695Glu	missense variant	-	NC_000016.10:g.53652603G>T	ExAC,gnomAD
RCV000001126	p.Ala695Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	ClinVar
rs121918200	p.Ala695Pro	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652604C>G	ExAC,gnomAD
rs121918200	p.Ala695Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	UniProt,dbSNP
VAR_039395	p.Ala695Pro	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	UniProt
rs121918200	p.Ala695Thr	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652604C>T	ExAC,gnomAD
rs1396387199	p.Gln697Arg	missense variant	-	NC_000016.10:g.53652597T>C	gnomAD
rs201081228	p.Leu698Ter	stop gained	-	NC_000016.10:g.53652594A>C	ESP,ExAC,TOPMed,gnomAD
rs764289143	p.Lys699Arg	missense variant	-	NC_000016.10:g.53652591T>C	TOPMed
rs764289143	p.Lys699Thr	missense variant	-	NC_000016.10:g.53652591T>G	TOPMed
rs193282093	p.Glu702Gly	missense variant	-	NC_000016.10:g.53652582T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199975230	p.Glu702Lys	missense variant	-	NC_000016.10:g.53652583C>T	1000Genomes,TOPMed,gnomAD
rs1246580946	p.Leu704Pro	missense variant	-	NC_000016.10:g.53652576A>G	gnomAD
rs1345120923	p.Glu705Gly	missense variant	-	NC_000016.10:g.53652573T>C	TOPMed
rs1194791522	p.Glu705Ter	stop gained	-	NC_000016.10:g.53652574C>A	gnomAD
rs759934290	p.Lys706Asn	missense variant	-	NC_000016.10:g.53652569T>G	ExAC,TOPMed,gnomAD
rs1429164270	p.Lys706Thr	missense variant	-	NC_000016.10:g.53652570T>G	TOPMed
RCV000729047	p.Lys706Thr	missense variant	-	NC_000016.10:g.53652570T>G	ClinVar
rs151281974	p.Ser707Asn	missense variant	-	NC_000016.10:g.53652567C>T	ESP,ExAC,TOPMed
rs151281974	p.Ser707Ile	missense variant	-	NC_000016.10:g.53652567C>A	ESP,ExAC,TOPMed
rs565152814	p.Gly708Ser	missense variant	-	NC_000016.10:g.53652565C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs74396053	p.Arg709Gln	missense variant	-	NC_000016.10:g.53652561C>T	ExAC,TOPMed,gnomAD
rs1037406858	p.Arg709Ter	stop gained	-	NC_000016.10:g.53652562G>A	TOPMed,gnomAD
rs74396053	p.Arg709Leu	missense variant	-	NC_000016.10:g.53652561C>A	ExAC,TOPMed,gnomAD
rs748143379	p.Ile710Met	missense variant	-	NC_000016.10:g.53652557T>C	ExAC,gnomAD
rs1217480617	p.Ile710Val	missense variant	-	NC_000016.10:g.53652559T>C	gnomAD
rs1486084514	p.Thr713Ala	missense variant	-	NC_000016.10:g.53652550T>C	gnomAD
rs1243570373	p.Ala714Gly	missense variant	-	NC_000016.10:g.53652546G>C	gnomAD
rs1420264871	p.Thr719Lys	missense variant	-	NC_000016.10:g.53649112G>T	gnomAD
rs773725787	p.Lys720Glu	missense variant	-	NC_000016.10:g.53649110T>C	TOPMed,gnomAD
rs749021782	p.Lys720Arg	missense variant	-	NC_000016.10:g.53649109T>C	ExAC,gnomAD
rs780023355	p.Gly721Arg	missense variant	-	NC_000016.10:g.53649107C>T	ExAC,TOPMed,gnomAD
rs769280712	p.Ile723Val	missense variant	-	NC_000016.10:g.53649101T>C	ExAC,TOPMed,gnomAD
rs1487358613	p.Pro724Gln	missense variant	-	NC_000016.10:g.53649097G>T	gnomAD
RCV000636953	p.Asn725Asp	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649095T>C	ClinVar
rs373201651	p.Asn725Asp	missense variant	-	NC_000016.10:g.53649095T>C	ExAC,TOPMed,gnomAD
rs780747718	p.Phe726Ile	missense variant	-	NC_000016.10:g.53649092A>T	ExAC,gnomAD
rs756787466	p.Trp732Gly	missense variant	-	NC_000016.10:g.53649074A>C	ExAC,gnomAD
RCV000349758	p.Arg734Gln	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649067C>T	ClinVar
rs117364872	p.Arg734Gln	missense variant	-	NC_000016.10:g.53649067C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000484741	p.Arg734Ter	nonsense	-	NC_000016.10:g.53649068G>A	ClinVar
rs751128300	p.Arg734Ter	stop gained	-	NC_000016.10:g.53649068G>A	ExAC,TOPMed,gnomAD
RCV000734409	p.Arg734Gln	missense variant	-	NC_000016.10:g.53649067C>T	ClinVar
RCV000292443	p.Arg734Gln	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53649067C>T	ClinVar
RCV000390519	p.Arg734Gln	missense variant	Nephronophthisis	NC_000016.10:g.53649067C>T	ClinVar
rs1354385640	p.Arg736Gly	missense variant	-	NC_000016.10:g.53649062T>C	gnomAD
rs755481580	p.Asp740Tyr	missense variant	-	NC_000016.10:g.53649050C>A	ExAC,gnomAD
RCV000288192	p.Arg744Gln	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649037C>T	ClinVar
RCV000394341	p.Arg744Gln	missense variant	Nephronophthisis	NC_000016.10:g.53649037C>T	ClinVar
RCV000345607	p.Arg744Gln	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53649037C>T	ClinVar
rs267604575	p.Arg744Ter	stop gained	-	NC_000016.10:g.53649038G>A	ExAC,TOPMed,gnomAD
rs2302677	p.Arg744Gln	missense variant	-	NC_000016.10:g.53649037C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2302677	p.Arg744Leu	missense variant	-	NC_000016.10:g.53649037C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2302677	p.Arg744Gln	missense variant	-	NC_000016.10:g.53649037C>T	UniProt,dbSNP
VAR_039396	p.Arg744Gln	missense variant	-	NC_000016.10:g.53649037C>T	UniProt
rs750631908	p.Tyr746Cys	missense variant	-	NC_000016.10:g.53649031T>C	ExAC,TOPMed,gnomAD
rs760997992	p.Tyr746Asp	missense variant	-	NC_000016.10:g.53649032A>C	ExAC,gnomAD
rs767686118	p.Arg747Ter	stop gained	-	NC_000016.10:g.53649029G>A	ExAC,TOPMed,gnomAD
rs142349647	p.Arg747Gln	missense variant	-	NC_000016.10:g.53649028C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767686118	p.Arg747Gly	missense variant	-	NC_000016.10:g.53649029G>C	ExAC,TOPMed,gnomAD
RCV000153059	p.Arg747Gln	missense variant	-	NC_000016.10:g.53649028C>T	ClinVar
rs1475089401	p.Glu748Lys	missense variant	-	NC_000016.10:g.53649026C>T	gnomAD
rs774573573	p.Arg749Lys	missense variant	-	NC_000016.10:g.53649022C>T	ExAC,gnomAD
rs1190319973	p.Ala750Val	missense variant	-	NC_000016.10:g.53649019G>A	gnomAD
rs1311281083	p.Lys751Arg	missense variant	-	NC_000016.10:g.53649016T>C	TOPMed
rs1447666802	p.Lys751Gln	missense variant	-	NC_000016.10:g.53649017T>G	TOPMed
rs1477004956	p.Ala752Ser	missense variant	-	NC_000016.10:g.53649014C>A	gnomAD
rs763005144	p.Gly754Arg	missense variant	-	NC_000016.10:g.53649008C>T	ExAC,gnomAD
rs1262455268	p.Ile756Thr	missense variant	-	NC_000016.10:g.53649001A>G	gnomAD
RCV000001132	p.Thr757Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53649000del	ClinVar
rs1278157548	p.Ser758Pro	missense variant	-	NC_000016.10:g.53648996A>G	TOPMed
rs1219025906	p.Lys761Glu	missense variant	-	NC_000016.10:g.53648987T>C	gnomAD
rs1326042797	p.Gln767Ter	stop gained	-	NC_000016.10:g.53648969G>A	gnomAD
rs1338012833	p.Gln767His	missense variant	-	NC_000016.10:g.53648967C>A	TOPMed,gnomAD
RCV000578780	p.Gln767Ter	nonsense	-	NC_000016.10:g.53648969G>A	ClinVar
rs542206983	p.Ser768Leu	missense variant	-	NC_000016.10:g.53648965G>A	ExAC,TOPMed,gnomAD
rs542206983	p.Ser768Ter	stop gained	-	NC_000016.10:g.53648965G>T	ExAC,TOPMed,gnomAD
rs746692718	p.Leu769Val	missense variant	-	NC_000016.10:g.53646003A>C	ExAC,gnomAD
rs772889000	p.Ser770Arg	missense variant	-	NC_000016.10:g.53646000T>G	ExAC,gnomAD
rs1211013178	p.Gln771Arg	missense variant	-	NC_000016.10:g.53645996T>C	TOPMed
RCV000324463	p.Thr776Ile	missense variant	Nephronophthisis	NC_000016.10:g.53645981G>A	ClinVar
RCV000267342	p.Thr776Ile	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645981G>A	ClinVar
rs771545136	p.Thr776Ile	missense variant	-	NC_000016.10:g.53645981G>A	ExAC,TOPMed,gnomAD
RCV000376696	p.Thr776Ile	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645981G>A	ClinVar
rs1434361979	p.Ser780Cys	missense variant	-	NC_000016.10:g.53645970T>A	TOPMed
rs1249630167	p.Thr782Ala	missense variant	-	NC_000016.10:g.53645964T>C	TOPMed,gnomAD
rs1196015536	p.Ser784Cys	missense variant	-	NC_000016.10:g.53645957G>C	TOPMed,gnomAD
rs996587890	p.Gly787Ala	missense variant	-	NC_000016.10:g.53645948C>G	TOPMed
rs996587890	p.Gly787Asp	missense variant	-	NC_000016.10:g.53645948C>T	TOPMed
rs747710245	p.Asn788Tyr	missense variant	-	NC_000016.10:g.53645946T>A	ExAC,gnomAD
rs746197640	p.Asn788Lys	missense variant	-	NC_000016.10:g.53645944G>T	ExAC,TOPMed,gnomAD
rs780547927	p.Asn788Ile	missense variant	-	NC_000016.10:g.53645945T>A	ExAC,gnomAD
rs1456928272	p.Asn790Ser	missense variant	-	NC_000016.10:g.53645939T>C	TOPMed
rs781443815	p.Ile794Val	missense variant	-	NC_000016.10:g.53645928T>C	ExAC,gnomAD
rs757738089	p.Thr795Ile	missense variant	-	NC_000016.10:g.53645924G>A	ExAC,gnomAD
rs1393329540	p.Thr795Ala	missense variant	-	NC_000016.10:g.53645925T>C	gnomAD
rs751810873	p.Ile796Lys	missense variant	-	NC_000016.10:g.53645921A>T	ExAC,gnomAD
rs764469041	p.Ile796Met	missense variant	-	NC_000016.10:g.53645920T>C	ExAC,gnomAD
rs892392514	p.Arg797Ile	missense variant	-	NC_000016.10:g.53645918C>A	TOPMed,gnomAD
rs752724338	p.Asn800His	missense variant	-	NC_000016.10:g.53645910T>G	ExAC,gnomAD
rs147734438	p.Asn800Thr	missense variant	-	NC_000016.10:g.53645909T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147734438	p.Asn800Ser	missense variant	-	NC_000016.10:g.53645909T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759412548	p.His801Tyr	missense variant	-	NC_000016.10:g.53645907G>A	ExAC,TOPMed,gnomAD
rs776444293	p.His801Arg	missense variant	-	NC_000016.10:g.53645906T>C	ExAC,TOPMed,gnomAD
rs776444293	p.His801Pro	missense variant	-	NC_000016.10:g.53645906T>G	ExAC,TOPMed,gnomAD
RCV000316530	p.Arg805Gln	missense variant	Nephronophthisis	NC_000016.10:g.53645894C>T	ClinVar
RCV000355000	p.Arg805Gln	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645894C>T	ClinVar
rs145665129	p.Arg805Ter	stop gained	-	NC_000016.10:g.53645895G>A	ESP,ExAC,TOPMed,gnomAD
rs532412372	p.Arg805Gln	missense variant	-	NC_000016.10:g.53645894C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000001134	p.Arg805Ter	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53645895G>A	ClinVar
RCV000733537	p.Arg805Ter	nonsense	-	NC_000016.10:g.53645895G>A	ClinVar
RCV000201645	p.Arg805Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53645895G>A	ClinVar
RCV000263635	p.Arg805Gln	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645894C>T	ClinVar
rs535131999	p.His808Asn	missense variant	-	NC_000016.10:g.53645886G>T	TOPMed
rs535131999	p.His808Tyr	missense variant	-	NC_000016.10:g.53645886G>A	TOPMed
RCV000598116	p.Leu809Val	missense variant	-	NC_000016.10:g.53645883G>C	ClinVar
rs370180090	p.Leu809Val	missense variant	-	NC_000016.10:g.53645883G>C	ESP,ExAC,TOPMed,gnomAD
rs1258535136	p.His812Tyr	missense variant	-	NC_000016.10:g.53645874G>A	TOPMed
rs773760213	p.Tyr814Cys	missense variant	-	NC_000016.10:g.53645867T>C	ExAC,gnomAD
rs145807002	p.Tyr817Ter	stop gained	-	NC_000016.10:g.53645857G>C	ESP,ExAC,TOPMed,gnomAD
RCV000760815	p.Tyr817Ter	nonsense	-	NC_000016.10:g.53645857G>C	ClinVar
rs757684695	p.Lys818Glu	missense variant	-	NC_000016.10:g.53645856T>C	ExAC,gnomAD
rs377377380	p.Asp821Asn	missense variant	-	NC_000016.10:g.53645847C>T	ESP,TOPMed,gnomAD
rs377377380	p.Asp821Tyr	missense variant	-	NC_000016.10:g.53645847C>A	ESP,TOPMed,gnomAD
rs758706358	p.Asp821Gly	missense variant	-	NC_000016.10:g.53645846T>C	ExAC,gnomAD
rs1156640840	p.Phe822Ser	missense variant	-	NC_000016.10:g.53645843A>G	TOPMed
rs932933680	p.Ala823Val	missense variant	-	NC_000016.10:g.53645840G>A	TOPMed,gnomAD
rs1051268898	p.Ala823Ser	missense variant	-	NC_000016.10:g.53645841C>A	TOPMed,gnomAD
rs752772082	p.His825Arg	missense variant	-	NC_000016.10:g.53645834T>C	ExAC,TOPMed,gnomAD
rs746015353	p.Asp826Asn	missense variant	-	NC_000016.10:g.53645832C>T	ExAC,gnomAD
rs755123128	p.Ala828Asp	missense variant	-	NC_000016.10:g.53645825G>T	ExAC,TOPMed,gnomAD
RCV000193027	p.Ala828Asp	missense variant	-	NC_000016.10:g.53645825G>T	ClinVar
rs375358825	p.Ser833Ile	missense variant	-	NC_000016.10:g.53645810C>A	ESP,TOPMed
rs949487941	p.Asp840Val	missense variant	-	NC_000016.10:g.53645789T>A	TOPMed,gnomAD
rs949487941	p.Asp840Gly	missense variant	-	NC_000016.10:g.53645789T>C	TOPMed,gnomAD
rs766357656	p.His841Arg	missense variant	-	NC_000016.10:g.53645786T>C	ExAC,gnomAD
rs1333161965	p.His841Asp	missense variant	-	NC_000016.10:g.53645787G>C	gnomAD
rs760455293	p.Phe844Leu	missense variant	-	NC_000016.10:g.53645776G>C	ExAC,gnomAD
rs974340563	p.Pro845Leu	missense variant	-	NC_000016.10:g.53645774G>A	TOPMed
RCV000390525	p.Val846Ala	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645771A>G	ClinVar
rs750235612	p.Val846Ala	missense variant	-	NC_000016.10:g.53645771A>G	ExAC,TOPMed,gnomAD
RCV000313216	p.Val846Ala	missense variant	Nephronophthisis	NC_000016.10:g.53645771A>G	ClinVar
RCV000356290	p.Val846Ala	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645771A>G	ClinVar
rs1325721033	p.Met848Lys	missense variant	-	NC_000016.10:g.53645765A>T	gnomAD
rs1318910206	p.Met848Ile	missense variant	-	NC_000016.10:g.53645764C>T	gnomAD
rs767112083	p.Met848Val	missense variant	-	NC_000016.10:g.53645766T>C	ExAC,TOPMed,gnomAD
rs1323211982	p.Met850Val	missense variant	-	NC_000016.10:g.53645760T>C	TOPMed
rs761406856	p.Asp851Gly	missense variant	-	NC_000016.10:g.53645756T>C	ExAC,gnomAD
rs761406856	p.Asp851Val	missense variant	-	NC_000016.10:g.53645756T>A	ExAC,gnomAD
rs1392008694	p.Leu852Phe	missense variant	-	NC_000016.10:g.53645752C>A	gnomAD
rs1221830575	p.Asp853Val	missense variant	-	NC_000016.10:g.53645750T>A	TOPMed
rs867090245	p.Arg854Gln	missense variant	-	NC_000016.10:g.53645747C>T	gnomAD
rs770291169	p.Arg854Ter	stop gained	-	NC_000016.10:g.53645748G>A	gnomAD
rs867090245	p.Arg854Leu	missense variant	-	NC_000016.10:g.53645747C>A	gnomAD
rs886052096	p.Tyr855Ter	stop gained	-	NC_000016.10:g.53645743G>T	TOPMed,gnomAD
rs1290419108	p.Tyr855His	missense variant	-	NC_000016.10:g.53645745A>G	TOPMed
rs774095133	p.Leu856Phe	missense variant	-	NC_000016.10:g.53645742G>A	ExAC,gnomAD
rs149833407	p.Lys857Asn	missense variant	-	NC_000016.10:g.53645737C>G	ESP,TOPMed
rs768030202	p.Ser860Cys	missense variant	-	NC_000016.10:g.53645729G>C	ExAC,gnomAD
rs747319156	p.Tyr864Cys	missense variant	-	NC_000016.10:g.53645717T>C	ExAC,gnomAD
rs1480250597	p.Tyr864His	missense variant	-	NC_000016.10:g.53645718A>G	TOPMed
rs772377772	p.Thr871Pro	missense variant	-	NC_000016.10:g.53645697T>G	ExAC,gnomAD
rs754997198	p.Gln872Arg	missense variant	-	NC_000016.10:g.53645693T>C	ExAC
rs121918203	p.Gln872Ter	stop gained	-	NC_000016.10:g.53645694G>A	ESP,ExAC,TOPMed,gnomAD
RCV000762961	p.Gln872Ter	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53645694G>A	ClinVar
rs368106167	p.Glu873Lys	missense variant	-	NC_000016.10:g.53645691C>T	ESP,ExAC,TOPMed,gnomAD
rs1424624795	p.Glu873Asp	missense variant	-	NC_000016.10:g.53645689C>A	TOPMed
rs756072167	p.Ile877Thr	missense variant	-	NC_000016.10:g.53645678A>G	ExAC,gnomAD
rs779895977	p.Ile877Val	missense variant	-	NC_000016.10:g.53645679T>C	ExAC,TOPMed,gnomAD
rs750182396	p.Val880Ala	missense variant	-	NC_000016.10:g.53645669A>G	ExAC,gnomAD
RCV000344571	p.Asn881Ter	frameshift	-	NC_000016.10:g.53645638_53645666del	ClinVar
rs377404824	p.Asn881Ser	missense variant	-	NC_000016.10:g.53645666T>C	ESP,ExAC,TOPMed,gnomAD
rs139503476	p.Asn881Lys	missense variant	-	NC_000016.10:g.53645665A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514096	p.Asn881Lys	missense variant	-	NC_000016.10:g.53645665A>T	ClinVar
rs763875453	p.Val882Met	missense variant	-	NC_000016.10:g.53645664C>T	ExAC,gnomAD
rs762304207	p.Ser886Leu	missense variant	-	NC_000016.10:g.53645651G>A	ExAC,TOPMed,gnomAD
rs193052266	p.His889Asn	missense variant	-	NC_000016.10:g.53645643G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1228542037	p.His889Arg	missense variant	-	NC_000016.10:g.53645642T>C	TOPMed
rs546732202	p.Asp890Gly	missense variant	-	NC_000016.10:g.53645639T>C	ExAC,TOPMed,gnomAD
rs200531735	p.Arg891Lys	missense variant	-	NC_000016.10:g.53645636C>T	1000Genomes,ExAC,gnomAD
rs748601161	p.Ile893Phe	missense variant	-	NC_000016.10:g.53645631T>A	ExAC,gnomAD
rs1441761004	p.Ile896Leu	missense variant	-	NC_000016.10:g.53641473T>G	TOPMed
rs762013869	p.Glu898Lys	missense variant	-	NC_000016.10:g.53641467C>T	ExAC,gnomAD
rs1335669127	p.His902Asn	missense variant	-	NC_000016.10:g.53641455G>T	gnomAD
rs749485146	p.Lys904Arg	missense variant	-	NC_000016.10:g.53641448T>C	ExAC,gnomAD
rs376893062	p.Lys904Asn	missense variant	-	NC_000016.10:g.53641447C>A	ESP,ExAC,TOPMed,gnomAD
rs769854611	p.His905Leu	missense variant	-	NC_000016.10:g.53641445T>A	ExAC,gnomAD
rs727503875	p.Pro906Ser	missense variant	-	NC_000016.10:g.53641443G>A	-
RCV000153058	p.Pro906Ser	missense variant	-	NC_000016.10:g.53641443G>A	ClinVar
rs1265005618	p.Ala907Gly	missense variant	-	NC_000016.10:g.53641439G>C	TOPMed
rs1478290807	p.Gly908Asp	missense variant	-	NC_000016.10:g.53641436C>T	TOPMed
rs1158781350	p.Thr909Ala	missense variant	-	NC_000016.10:g.53641434T>C	gnomAD
rs746015651	p.Ile910Met	missense variant	-	NC_000016.10:g.53641429G>C	ExAC,TOPMed,gnomAD
rs1401652634	p.Ile910Thr	missense variant	-	NC_000016.10:g.53641430A>G	gnomAD
rs1391430738	p.His911Arg	missense variant	-	NC_000016.10:g.53641427T>C	gnomAD
rs1258275030	p.Ile913Val	missense variant	-	NC_000016.10:g.53641422T>C	gnomAD
rs1371534974	p.Leu914Trp	missense variant	-	NC_000016.10:g.53641418A>C	TOPMed
rs935905722	p.Trp916Arg	missense variant	-	NC_000016.10:g.53641413A>G	TOPMed
rs752374495	p.Leu921Val	missense variant	-	NC_000016.10:g.53641398G>C	ExAC,gnomAD
rs752374495	p.Leu921Phe	missense variant	-	NC_000016.10:g.53641398G>A	ExAC,gnomAD
rs572508334	p.Pro923Ser	missense variant	-	NC_000016.10:g.53641392G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572508334	p.Pro923Ala	missense variant	-	NC_000016.10:g.53641392G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs142234650	p.Ser924Asn	missense variant	-	NC_000016.10:g.53641388C>T	1000Genomes,TOPMed,gnomAD
rs142234650	p.Ser924Thr	missense variant	-	NC_000016.10:g.53641388C>G	1000Genomes,TOPMed,gnomAD
rs753399833	p.Ser924Arg	missense variant	-	NC_000016.10:g.53641389T>G	ExAC,TOPMed,gnomAD
rs1354484682	p.Gly925Glu	missense variant	-	NC_000016.10:g.53641385C>T	gnomAD
rs1397297818	p.Ile927Val	missense variant	-	NC_000016.10:g.53641380T>C	gnomAD
rs369041621	p.Thr928Ala	missense variant	-	NC_000016.10:g.53641377T>C	ESP,ExAC,TOPMed,gnomAD
rs1399746502	p.Thr929Ala	missense variant	-	NC_000016.10:g.53641374T>C	TOPMed
rs762417689	p.Thr929Ile	missense variant	-	NC_000016.10:g.53641373G>A	ExAC,TOPMed,gnomAD
RCV000466692	p.Glu930Ala	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641370T>G	ClinVar
rs374694596	p.Glu930Ala	missense variant	-	NC_000016.10:g.53641370T>G	ESP,ExAC,TOPMed,gnomAD
RCV000459856	p.Leu932Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53641364_53641365del	ClinVar
rs1274851334	p.Phe935Leu	missense variant	-	NC_000016.10:g.53641356A>G	TOPMed
rs146197239	p.Ile936Ser	missense variant	-	NC_000016.10:g.53641352A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763369161	p.Ile936Val	missense variant	-	NC_000016.10:g.53641353T>C	ExAC,TOPMed,gnomAD
rs763369161	p.Ile936Phe	missense variant	-	NC_000016.10:g.53641353T>A	ExAC,TOPMed,gnomAD
RCV000194076	p.Ile936Ser	missense variant	-	NC_000016.10:g.53641352A>C	ClinVar
rs776795273	p.Arg937His	missense variant	-	NC_000016.10:g.53641349C>T	ExAC,TOPMed,gnomAD
rs745890092	p.Arg937Cys	missense variant	-	NC_000016.10:g.53641350G>A	ExAC,TOPMed,gnomAD
rs776795273	p.Arg937Leu	missense variant	-	NC_000016.10:g.53641349C>A	UniProt,dbSNP
VAR_066481	p.Arg937Leu	missense variant	-	NC_000016.10:g.53641349C>A	UniProt
rs776795273	p.Arg937Leu	missense variant	-	NC_000016.10:g.53641349C>A	ExAC,TOPMed,gnomAD
rs192512050	p.Ser938Arg	missense variant	-	NC_000016.10:g.53641345G>T	ExAC,TOPMed,gnomAD
rs770732397	p.Ser938Thr	missense variant	-	NC_000016.10:g.53641346C>G	ExAC,TOPMed,gnomAD
RCV000414436	p.Glu939Lys	missense variant	-	NC_000016.10:g.53641344C>T	ClinVar
rs371763050	p.Glu939Lys	missense variant	-	NC_000016.10:g.53641344C>T	ESP,ExAC,TOPMed,gnomAD
rs748020146	p.Pro941Leu	missense variant	-	NC_000016.10:g.53641337G>A	ExAC,gnomAD
RCV000778468	p.Val944Ter	frameshift	RPGRIP1L-Related Disorders	NC_000016.10:g.53641331del	ClinVar
rs1333651499	p.Gln945Arg	missense variant	-	NC_000016.10:g.53641325T>C	gnomAD
rs79833796	p.Gln945Ter	stop gained	-	NC_000016.10:g.53641326G>A	ESP,TOPMed
rs79833796	p.Gln945Lys	missense variant	-	NC_000016.10:g.53641326G>T	ESP,TOPMed
rs576417383	p.Leu947Phe	missense variant	-	NC_000016.10:g.53641320G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576417383	p.Leu947Ile	missense variant	-	NC_000016.10:g.53641320G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561327446	p.Pro948Arg	missense variant	-	NC_000016.10:g.53641316G>C	ExAC,gnomAD
rs561327446	p.Pro948Leu	missense variant	-	NC_000016.10:g.53641316G>A	ExAC,gnomAD
rs1486116698	p.Pro948Ser	missense variant	-	NC_000016.10:g.53641317G>A	gnomAD
rs1324256125	p.Ser952Phe	missense variant	-	NC_000016.10:g.53641304G>A	gnomAD
rs764578359	p.Val953Ile	missense variant	-	NC_000016.10:g.53641302C>T	ExAC,TOPMed,gnomAD
rs1460721656	p.Ser954Arg	missense variant	-	NC_000016.10:g.53641297G>C	gnomAD
rs1161014573	p.Leu956Pro	missense variant	-	NC_000016.10:g.53641292A>G	TOPMed
rs1205182135	p.Ala959Val	missense variant	-	NC_000016.10:g.53641115G>A	gnomAD
rs1187280209	p.Pro960Ser	missense variant	-	NC_000016.10:g.53641113G>A	TOPMed
rs1416722227	p.Arg961Lys	missense variant	-	NC_000016.10:g.53641109C>T	TOPMed
rs141842001	p.Pro962Leu	missense variant	-	NC_000016.10:g.53641106G>A	ESP
rs1277659338	p.Pro964Leu	missense variant	-	NC_000016.10:g.53641100G>A	gnomAD
rs374721066	p.Arg965Lys	missense variant	-	NC_000016.10:g.53641097C>T	ESP,ExAC,TOPMed,gnomAD
rs754075998	p.Arg967His	missense variant	-	NC_000016.10:g.53641091C>T	ExAC,TOPMed,gnomAD
rs759942433	p.Arg967Cys	missense variant	-	NC_000016.10:g.53641092G>A	ExAC,TOPMed,gnomAD
rs138777811	p.Asp972Asn	missense variant	-	NC_000016.10:g.53641077C>T	ESP,ExAC,TOPMed,gnomAD
rs1353809695	p.Lys974Ter	stop gained	-	NC_000016.10:g.53641071T>A	TOPMed
rs773177044	p.Val975Ile	missense variant	-	NC_000016.10:g.53641068C>T	ExAC,gnomAD
RCV000262202	p.Ser976Thr	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53641065A>T	ClinVar
RCV000319864	p.Ser976Thr	missense variant	Nephronophthisis	NC_000016.10:g.53641065A>T	ClinVar
RCV000387058	p.Ser976Thr	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641065A>T	ClinVar
rs886052095	p.Ser976Thr	missense variant	-	NC_000016.10:g.53641065A>T	gnomAD
RCV000764075	p.Val978Met	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53641059C>T	ClinVar
rs367845452	p.Val978Met	missense variant	-	NC_000016.10:g.53641059C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000636960	p.Val978Met	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641059C>T	ClinVar
rs370687136	p.Asp979Tyr	missense variant	-	NC_000016.10:g.53641056C>A	ESP,ExAC,gnomAD
RCV000636955	p.Ile980Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53641052del	ClinVar
rs749106345	p.Met981Val	missense variant	-	NC_000016.10:g.53641050T>C	ExAC,gnomAD
rs1186634871	p.His983Pro	missense variant	-	NC_000016.10:g.53641043T>G	gnomAD
rs775144757	p.Gln984His	missense variant	-	NC_000016.10:g.53641039C>G	ExAC,TOPMed,gnomAD
rs1443460820	p.Gln984Arg	missense variant	-	NC_000016.10:g.53641040T>C	gnomAD
rs1203696547	p.Asp986His	missense variant	-	NC_000016.10:g.53641035C>G	gnomAD
rs1467277908	p.Glu987Lys	missense variant	-	NC_000016.10:g.53638411C>T	gnomAD
rs775171959	p.Thr988Asn	missense variant	-	NC_000016.10:g.53638407G>T	ExAC,TOPMed,gnomAD
rs775171959	p.Thr988Ile	missense variant	-	NC_000016.10:g.53638407G>A	ExAC,TOPMed,gnomAD
rs769448029	p.Ser989Tyr	missense variant	-	NC_000016.10:g.53638404G>T	ExAC,gnomAD
rs1225129455	p.Pro992Ser	missense variant	-	NC_000016.10:g.53638396G>A	gnomAD
rs745480425	p.Glu993Ala	missense variant	-	NC_000016.10:g.53638392T>G	ExAC,TOPMed,gnomAD
rs1391752720	p.Glu997Lys	missense variant	-	NC_000016.10:g.53638381C>T	gnomAD
rs1467519858	p.Glu997Asp	missense variant	-	NC_000016.10:g.53638379T>A	TOPMed,gnomAD
rs776313021	p.Ile998Val	missense variant	-	NC_000016.10:g.53638378T>C	ExAC,TOPMed,gnomAD
RCV000609113	p.Ile998Ter	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53638380del	ClinVar
rs770414663	p.Ser999Leu	missense variant	-	NC_000016.10:g.53638374G>A	ExAC,gnomAD
rs1475344595	p.Glu1001Val	missense variant	-	NC_000016.10:g.53638368T>A	gnomAD
rs1335757648	p.Glu1001Gln	missense variant	-	NC_000016.10:g.53638369C>G	TOPMed
rs965006608	p.Val1002Ile	missense variant	-	NC_000016.10:g.53638366C>T	gnomAD
rs965006608	p.Val1002Leu	missense variant	-	NC_000016.10:g.53638366C>A	gnomAD
rs746586531	p.Glu1003Lys	missense variant	-	NC_000016.10:g.53638363C>T	ExAC,gnomAD
rs779323809	p.Glu1003Gly	missense variant	-	NC_000016.10:g.53638362T>C	ExAC,gnomAD
rs574430009	p.His1004Tyr	missense variant	-	NC_000016.10:g.53638360G>A	1000Genomes,ExAC,gnomAD
rs749613626	p.His1004Arg	missense variant	-	NC_000016.10:g.53638359T>C	ExAC,TOPMed,gnomAD
rs749613626	p.His1004Leu	missense variant	-	NC_000016.10:g.53638359T>A	ExAC,TOPMed,gnomAD
rs1282363642	p.Ile1005Thr	missense variant	-	NC_000016.10:g.53638356A>G	TOPMed
rs780310164	p.Ile1005Val	missense variant	-	NC_000016.10:g.53638357T>C	ExAC,TOPMed,gnomAD
rs1270913164	p.Ile1005Met	missense variant	-	NC_000016.10:g.53638355T>C	gnomAD
rs756538968	p.Pro1006Thr	missense variant	-	NC_000016.10:g.53638354G>T	ExAC,TOPMed,gnomAD
rs756538968	p.Pro1006Ser	missense variant	-	NC_000016.10:g.53638354G>A	ExAC,TOPMed,gnomAD
rs767920573	p.Ile1008Met	missense variant	-	NC_000016.10:g.53638346T>C	ExAC,TOPMed,gnomAD
rs750665065	p.Ile1008Val	missense variant	-	NC_000016.10:g.53638348T>C	ExAC,gnomAD
rs757343133	p.Thr1014Ala	missense variant	-	NC_000016.10:g.53638330T>C	ExAC,gnomAD
rs1339763900	p.Pro1016Ser	missense variant	-	NC_000016.10:g.53638324G>A	TOPMed
rs764044965	p.His1017Arg	missense variant	-	NC_000016.10:g.53638320T>C	ExAC,TOPMed,gnomAD
rs764044965	p.His1017Leu	missense variant	-	NC_000016.10:g.53638320T>A	ExAC,TOPMed,gnomAD
rs1436719461	p.Lys1020Gln	missense variant	-	NC_000016.10:g.53638312T>G	gnomAD
rs552123467	p.Val1021Ile	missense variant	-	NC_000016.10:g.53637854C>T	1000Genomes
rs1483413866	p.Gln1023Glu	missense variant	-	NC_000016.10:g.53637848G>C	gnomAD
rs2111119	p.Gly1025Ser	missense variant	-	NC_000016.10:g.53637842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2111119	p.Gly1025Ser	missense variant	-	NC_000016.10:g.53637842C>T	UniProt,dbSNP
VAR_039397	p.Gly1025Ser	missense variant	-	NC_000016.10:g.53637842C>T	UniProt
RCV000114218	p.Gly1025Ser	missense variant	-	NC_000016.10:g.53637842C>T	ClinVar
rs1345699587	p.Val1027Ile	missense variant	-	NC_000016.10:g.53637836C>T	gnomAD
rs1219616722	p.Glu1029Val	missense variant	-	NC_000016.10:g.53637829T>A	gnomAD
rs1277423020	p.Glu1032Gln	missense variant	-	NC_000016.10:g.53637821C>G	gnomAD
rs1350534827	p.Asn1033Tyr	missense variant	-	NC_000016.10:g.53637818T>A	gnomAD
rs780672507	p.Thr1034Ile	missense variant	-	NC_000016.10:g.53637814G>A	ExAC,TOPMed,gnomAD
rs1433352074	p.Thr1034Pro	missense variant	-	NC_000016.10:g.53637815T>G	gnomAD
rs780672507	p.Thr1034Asn	missense variant	-	NC_000016.10:g.53637814G>T	ExAC,TOPMed,gnomAD
rs770051696	p.Glu1035Lys	missense variant	-	NC_000016.10:g.53637812C>T	ExAC,gnomAD
rs770051696	p.Glu1035Ter	stop gained	-	NC_000016.10:g.53637812C>A	ExAC,gnomAD
rs1406319216	p.Met1037Ile	missense variant	-	NC_000016.10:g.53637804C>T	gnomAD
rs181022346	p.Gln1039Arg	missense variant	-	NC_000016.10:g.53637799T>C	1000Genomes,ExAC,gnomAD
rs1456208953	p.Lys1041Ter	stop gained	-	NC_000016.10:g.53637794T>A	TOPMed
rs757576557	p.Asp1042Gly	missense variant	-	NC_000016.10:g.53637790T>C	ExAC,gnomAD
rs1170190799	p.Asp1042His	missense variant	-	NC_000016.10:g.53637791C>G	TOPMed
rs777685428	p.Asp1043Tyr	missense variant	-	NC_000016.10:g.53637788C>A	ExAC
rs777685428	p.Asp1043Asn	missense variant	-	NC_000016.10:g.53637788C>T	ExAC
rs1429389959	p.Ser1045Cys	missense variant	-	NC_000016.10:g.53637781G>C	TOPMed
rs971748450	p.Ser1048Tyr	missense variant	-	NC_000016.10:g.53637772G>T	gnomAD
rs971748450	p.Ser1048Phe	missense variant	-	NC_000016.10:g.53637772G>A	gnomAD
rs752562921	p.Gly1050Ser	missense variant	-	NC_000016.10:g.53637767C>T	ExAC,gnomAD
RCV000303220	p.Gln1051His	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637762C>A	ClinVar
rs886052094	p.Gln1051His	missense variant	-	NC_000016.10:g.53637762C>A	-
RCV000342957	p.Gln1051His	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53637762C>A	ClinVar
RCV000401516	p.Gln1051His	missense variant	Nephronophthisis	NC_000016.10:g.53637762C>A	ClinVar
rs540177010	p.Leu1052Arg	missense variant	-	NC_000016.10:g.53637760A>C	1000Genomes,ExAC,gnomAD
rs753642494	p.Leu1057Phe	missense variant	-	NC_000016.10:g.53637744C>G	ExAC,gnomAD
rs765964361	p.Ala1058Ser	missense variant	-	NC_000016.10:g.53637743C>A	ExAC,gnomAD
rs760347218	p.Ala1058Gly	missense variant	-	NC_000016.10:g.53637742G>C	ExAC,gnomAD
RCV000334324	p.Ser1060Phe	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53637736G>A	ClinVar
rs371616177	p.Ser1060Phe	missense variant	-	NC_000016.10:g.53637736G>A	ExAC,TOPMed,gnomAD
RCV000400874	p.Ser1060Phe	missense variant	Nephronophthisis	NC_000016.10:g.53637736G>A	ClinVar
RCV000304399	p.Ser1060Phe	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637736G>A	ClinVar
rs1057520162	p.Glu1063Ter	stop gained	-	NC_000016.10:g.53637728C>A	gnomAD
RCV000425777	p.Glu1063Ter	nonsense	-	NC_000016.10:g.53637728C>A	ClinVar
rs1457919032	p.Ile1066Val	missense variant	-	NC_000016.10:g.53637719T>C	gnomAD
rs372404481	p.Glu1068Ala	missense variant	-	NC_000016.10:g.53637712T>G	ESP,ExAC,TOPMed,gnomAD
rs771457754	p.Glu1068Lys	missense variant	-	NC_000016.10:g.53637713C>T	ExAC,gnomAD
rs372404481	p.Glu1068Gly	missense variant	-	NC_000016.10:g.53637712T>C	ESP,ExAC,TOPMed,gnomAD
rs200726671	p.Asp1069Gly	missense variant	-	NC_000016.10:g.53637709T>C	TOPMed,gnomAD
RCV000206114	p.Glu1071Lys	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637704C>T	ClinVar
rs864622470	p.Glu1071Lys	missense variant	-	NC_000016.10:g.53637704C>T	TOPMed
rs1301760105	p.Val1074Ala	missense variant	-	NC_000016.10:g.53636512A>G	gnomAD
rs1386379369	p.Asp1077Glu	missense variant	-	NC_000016.10:g.53636502G>C	gnomAD
rs1391765743	p.Met1078Thr	missense variant	-	NC_000016.10:g.53636500A>G	gnomAD
rs1295300355	p.Ser1079Ala	missense variant	-	NC_000016.10:g.53636498A>C	gnomAD
rs777328680	p.Ser1079Leu	missense variant	-	NC_000016.10:g.53636497G>A	ExAC,gnomAD
rs1321281371	p.Ser1083Asn	missense variant	-	NC_000016.10:g.53636485C>T	TOPMed
rs747472740	p.Asp1084Asn	missense variant	-	NC_000016.10:g.53636483C>T	ExAC,gnomAD
rs573999259	p.Asp1085Gly	missense variant	-	NC_000016.10:g.53636479T>C	1000Genomes,TOPMed,gnomAD
rs772351648	p.Cys1086Tyr	missense variant	-	NC_000016.10:g.53636476C>T	ExAC,TOPMed,gnomAD
rs772351648	p.Cys1086Ser	missense variant	-	NC_000016.10:g.53636476C>G	ExAC,TOPMed,gnomAD
rs773238696	p.Cys1086Arg	missense variant	-	NC_000016.10:g.53636477A>G	ExAC,gnomAD
rs748126198	p.Ile1087Val	missense variant	-	NC_000016.10:g.53636474T>C	ExAC,gnomAD
rs748126198	p.Ile1087Leu	missense variant	-	NC_000016.10:g.53636474T>G	ExAC,gnomAD
rs1185071339	p.Ile1088Ser	missense variant	-	NC_000016.10:g.53636470A>C	TOPMed
rs1432191595	p.Gly1090Ser	missense variant	-	NC_000016.10:g.53636465C>T	gnomAD
rs1436900505	p.Pro1091Thr	missense variant	-	NC_000016.10:g.53636462G>T	gnomAD
rs368430585	p.Pro1091Leu	missense variant	-	NC_000016.10:g.53636461G>A	ESP,ExAC,gnomAD
rs755086675	p.Ile1092Ser	missense variant	-	NC_000016.10:g.53636458A>C	ExAC,gnomAD
rs780022441	p.Lys1094Asn	missense variant	-	NC_000016.10:g.53636451C>G	ExAC,gnomAD
rs749199377	p.Lys1094Arg	missense variant	-	NC_000016.10:g.53636452T>C	ExAC,gnomAD
RCV000722542	p.Ile1096Ter	frameshift	-	NC_000016.10:g.53636448dup	ClinVar
rs1469199537	p.Ser1099Gly	missense variant	-	NC_000016.10:g.53622356T>C	TOPMed,gnomAD
RCV000636948	p.Ala1101Thr	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622350C>T	ClinVar
rs539084201	p.Ala1101Pro	missense variant	-	NC_000016.10:g.53622350C>G	TOPMed
rs539084201	p.Ala1101Thr	missense variant	-	NC_000016.10:g.53622350C>T	TOPMed
RCV000190621	p.Ala1101Ter	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53622351_53622352GA[3]	ClinVar
rs1268468824	p.Leu1102Trp	missense variant	-	NC_000016.10:g.53622346A>C	TOPMed
rs772561197	p.Pro1104Ser	missense variant	-	NC_000016.10:g.53622341G>A	gnomAD
rs528501990	p.Gly1105Arg	missense variant	-	NC_000016.10:g.53622338C>T	1000Genomes,TOPMed,gnomAD
rs919333754	p.Cys1108Tyr	missense variant	-	NC_000016.10:g.53622328C>T	TOPMed,gnomAD
rs973841786	p.Ala1111Thr	missense variant	-	NC_000016.10:g.53622320C>T	TOPMed,gnomAD
rs963424967	p.Ala1111Glu	missense variant	-	NC_000016.10:g.53622319G>T	TOPMed,gnomAD
rs963424967	p.Ala1111Val	missense variant	-	NC_000016.10:g.53622319G>A	TOPMed,gnomAD
rs986384855	p.Ile1112Asn	missense variant	-	NC_000016.10:g.53622316A>T	TOPMed,gnomAD
rs1369192994	p.Ala1114Gly	missense variant	-	NC_000016.10:g.53622310G>C	TOPMed
rs1300571190	p.Asn1117Lys	missense variant	-	NC_000016.10:g.53622300G>C	TOPMed
rs1386818617	p.Asn1117Asp	missense variant	-	NC_000016.10:g.53622302T>C	TOPMed
rs1443552550	p.Phe1118Leu	missense variant	-	NC_000016.10:g.53622297G>C	gnomAD
rs559742485	p.Phe1118Leu	missense variant	-	NC_000016.10:g.53622299A>G	1000Genomes,TOPMed,gnomAD
rs1207253947	p.Arg1119His	missense variant	-	NC_000016.10:g.53622295C>T	gnomAD
rs1030543863	p.Arg1119Cys	missense variant	-	NC_000016.10:g.53622296G>A	TOPMed,gnomAD
RCV000734008	p.Pro1121Leu	missense variant	-	NC_000016.10:g.53622289G>A	ClinVar
RCV000292527	p.Pro1121Leu	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622289G>A	ClinVar
rs1328154499	p.Pro1121Ser	missense variant	-	NC_000016.10:g.53622290G>A	TOPMed
rs886052093	p.Pro1121Leu	missense variant	-	NC_000016.10:g.53622289G>A	TOPMed,gnomAD
RCV000389095	p.Pro1121Leu	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53622289G>A	ClinVar
RCV000332245	p.Pro1121Leu	missense variant	Nephronophthisis	NC_000016.10:g.53622289G>A	ClinVar
rs1230525806	p.Gly1122Cys	missense variant	-	NC_000016.10:g.53622287C>A	gnomAD
rs1488870675	p.Ser1123Pro	missense variant	-	NC_000016.10:g.53622284A>G	TOPMed
rs774600611	p.Ser1124Ile	missense variant	-	NC_000016.10:g.53622280C>A	ExAC
rs1332759984	p.Ser1124Arg	missense variant	-	NC_000016.10:g.53622281T>G	TOPMed,gnomAD
rs866468122	p.Asp1125Tyr	missense variant	-	NC_000016.10:g.53622278C>A	TOPMed,gnomAD
RCV000244012	p.Gln1132Arg	missense variant	-	NC_000016.10:g.53622256T>C	ClinVar
rs561414163	p.Gln1132Arg	missense variant	-	NC_000016.10:g.53622256T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000535913	p.Gln1132Arg	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622256T>C	ClinVar
rs1387709465	p.Asp1134Ala	missense variant	-	NC_000016.10:g.53622250T>G	TOPMed,gnomAD
rs1417702900	p.Ile1136Thr	missense variant	-	NC_000016.10:g.53622244A>G	TOPMed
rs1458529257	p.Ile1136Val	missense variant	-	NC_000016.10:g.53622245T>C	gnomAD
rs1156546553	p.Thr1137Ile	missense variant	-	NC_000016.10:g.53622241G>A	TOPMed
rs1387929830	p.Gly1138Asp	missense variant	-	NC_000016.10:g.53622238C>T	TOPMed,gnomAD
rs1162157827	p.Ala1139Val	missense variant	-	NC_000016.10:g.53622235G>A	gnomAD
rs1302017682	p.Cys1140Arg	missense variant	-	NC_000016.10:g.53622233A>G	TOPMed
rs1473386762	p.His1142Tyr	missense variant	-	NC_000016.10:g.53622227G>A	TOPMed,gnomAD
RCV000081726	p.Thr1143Ser	missense variant	-	NC_000016.10:g.53622223G>C	ClinVar
rs111775292	p.Thr1143Asn	missense variant	-	NC_000016.10:g.53622223G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs111775292	p.Thr1143Ser	missense variant	-	NC_000016.10:g.53622223G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1050777749	p.Gln1144Glu	missense variant	-	NC_000016.10:g.53622221G>C	TOPMed,gnomAD
rs752266252	p.Glu1147Ter	stop gained	-	NC_000016.10:g.53619202C>A	ExAC,gnomAD
rs766943204	p.Ile1149Asn	missense variant	-	NC_000016.10:g.53619195A>T	ExAC,TOPMed,gnomAD
RCV000484881	p.Ile1149Asn	missense variant	-	NC_000016.10:g.53619195A>T	ClinVar
rs376330325	p.Arg1150Gln	missense variant	-	NC_000016.10:g.53619192C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750930363	p.Arg1150Trp	missense variant	-	NC_000016.10:g.53619193G>A	ExAC,TOPMed,gnomAD
RCV000249264	p.Ile1151Leu	missense variant	-	NC_000016.10:g.53619190T>G	ClinVar
rs886038619	p.Ile1151Leu	missense variant	-	NC_000016.10:g.53619190T>G	TOPMed,gnomAD
rs1210120285	p.Glu1152Lys	missense variant	-	NC_000016.10:g.53619187C>T	TOPMed
rs1015972897	p.Ile1154Thr	missense variant	-	NC_000016.10:g.53619180A>G	TOPMed,gnomAD
RCV000636954	p.Ala1155Val	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619177G>A	ClinVar
rs1436841364	p.Ala1155Val	missense variant	-	NC_000016.10:g.53619177G>A	gnomAD
rs1431057757	p.Ala1155Ser	missense variant	-	NC_000016.10:g.53619178C>A	TOPMed
rs768881486	p.Asn1159Lys	missense variant	-	NC_000016.10:g.53619164A>T	ExAC,gnomAD
rs774549370	p.Asn1159Asp	missense variant	-	NC_000016.10:g.53619166T>C	ExAC,gnomAD
RCV000658126	p.Asn1159Asp	missense variant	-	NC_000016.10:g.53619166T>C	ClinVar
rs762975431	p.Asp1160Glu	missense variant	-	NC_000016.10:g.53619161A>C	ExAC,TOPMed,gnomAD
rs1170810307	p.Ser1161Phe	missense variant	-	NC_000016.10:g.53619159G>A	gnomAD
rs769809157	p.Gln1162Pro	missense variant	-	NC_000016.10:g.53619156T>G	ExAC,gnomAD
rs769809157	p.Gln1162Leu	missense variant	-	NC_000016.10:g.53619156T>A	ExAC,gnomAD
rs745796721	p.Thr1164Ile	missense variant	-	NC_000016.10:g.53619150G>A	ExAC,TOPMed,gnomAD
rs370088070	p.Met1165Thr	missense variant	-	NC_000016.10:g.53619147A>G	ESP,ExAC,TOPMed,gnomAD
rs370088070	p.Met1165Lys	missense variant	-	NC_000016.10:g.53619147A>T	ESP,ExAC,TOPMed,gnomAD
rs202068222	p.Asp1166Val	missense variant	-	NC_000016.10:g.53619144T>A	1000Genomes,ExAC,gnomAD
rs746806282	p.Asp1167Asn	missense variant	-	NC_000016.10:g.53619142C>T	ExAC,TOPMed,gnomAD
rs200189895	p.Arg1171Trp	missense variant	-	NC_000016.10:g.53619130G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141808948	p.Arg1171Gln	missense variant	-	NC_000016.10:g.53619129C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752213129	p.Phe1173Leu	missense variant	-	NC_000016.10:g.53619124A>G	ExAC,gnomAD
RCV000201661	p.Arg1177Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53619112G>A	ClinVar
rs754491479	p.Arg1177Gln	missense variant	-	NC_000016.10:g.53619111C>T	ExAC,TOPMed,gnomAD
rs778533826	p.Arg1177Gly	missense variant	-	NC_000016.10:g.53619112G>C	ExAC,TOPMed,gnomAD
rs778533826	p.Arg1177Ter	stop gained	-	NC_000016.10:g.53619112G>A	ExAC,TOPMed,gnomAD
rs1238661701	p.Phe1178Cys	missense variant	-	NC_000016.10:g.53619108A>C	TOPMed
rs750925640	p.Tyr1179Cys	missense variant	-	NC_000016.10:g.53619105T>C	ExAC,gnomAD
rs1227260026	p.Ser1180Arg	missense variant	-	NC_000016.10:g.53619101A>C	gnomAD
rs767972738	p.Ser1180Asn	missense variant	-	NC_000016.10:g.53619102C>T	ExAC,gnomAD
rs1317756490	p.Ser1180Arg	missense variant	-	NC_000016.10:g.53619103T>G	TOPMed
rs905516252	p.Leu1181Ile	missense variant	-	NC_000016.10:g.53619100G>T	TOPMed,gnomAD
RCV000406988	p.Pro1182Ala	missense variant	-	NC_000016.10:g.53619097G>C	ClinVar
rs1446510817	p.Pro1182Leu	missense variant	-	NC_000016.10:g.53619096G>A	TOPMed,gnomAD
rs61742648	p.Pro1182Ala	missense variant	-	NC_000016.10:g.53619097G>C	ExAC,TOPMed,gnomAD
RCV000081727	p.Ala1183Gly	missense variant	-	NC_000016.10:g.53619093G>C	ClinVar
rs139974543	p.Ala1183Gly	missense variant	-	NC_000016.10:g.53619093G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139974543	p.Ala1183Gly	missense variant	-	NC_000016.10:g.53619093G>C	UniProt,dbSNP
VAR_065556	p.Ala1183Gly	missense variant	-	NC_000016.10:g.53619093G>C	UniProt
RCV000459406	p.Ala1183Gly	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619093G>C	ClinVar
rs577541989	p.Thr1186Ile	missense variant	-	NC_000016.10:g.53619084G>A	1000Genomes,ExAC,gnomAD
rs1410032900	p.Pro1187Ala	missense variant	-	NC_000016.10:g.53619082G>C	gnomAD
rs763135522	p.Pro1187His	missense variant	-	NC_000016.10:g.53619081G>T	ExAC
rs142317242	p.Val1188Met	missense variant	-	NC_000016.10:g.53619079C>T	ESP,ExAC,TOPMed,gnomAD
RCV000232122	p.Val1188Met	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619079C>T	ClinVar
RCV000359252	p.Val1188Met	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53619079C>T	ClinVar
RCV000271829	p.Val1188Met	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619079C>T	ClinVar
RCV000302183	p.Val1188Met	missense variant	Nephronophthisis	NC_000016.10:g.53619079C>T	ClinVar
RCV000360555	p.Pro1193Leu	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53619063G>A	ClinVar
RCV000299028	p.Pro1193Leu	missense variant	Nephronophthisis	NC_000016.10:g.53619063G>A	ClinVar
RCV000268142	p.Pro1193Leu	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619063G>A	ClinVar
rs886052092	p.Pro1193Leu	missense variant	-	NC_000016.10:g.53619063G>A	-
rs1482265266	p.Lys1194Glu	missense variant	-	NC_000016.10:g.53619061T>C	TOPMed,gnomAD
rs376935464	p.Ser1195Arg	missense variant	-	NC_000016.10:g.53619056A>C	ESP,ExAC,TOPMed,gnomAD
rs1391435805	p.Ser1195Ile	missense variant	-	NC_000016.10:g.53619057C>A	gnomAD
rs376935464	p.Ser1195Arg	missense variant	-	NC_000016.10:g.53619056A>T	ESP,ExAC,TOPMed,gnomAD
rs1210597784	p.Gly1196Glu	missense variant	-	NC_000016.10:g.53619054C>T	gnomAD
RCV000785895	p.Trp1198Ter	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53619047C>T	ClinVar
rs1424253679	p.Val1199Phe	missense variant	-	NC_000016.10:g.53619046C>A	TOPMed
rs1324427345	p.Tyr1201Ter	stop gained	-	NC_000016.10:g.53619038A>C	gnomAD
rs1462325543	p.Asn1202Lys	missense variant	-	NC_000016.10:g.53619035G>C	gnomAD
rs770785256	p.Tyr1203Cys	missense variant	-	NC_000016.10:g.53619033T>C	ExAC,TOPMed,gnomAD
rs746750855	p.Ser1204Asn	missense variant	-	NC_000016.10:g.53619030C>T	ExAC,TOPMed,gnomAD
rs1329201140	p.Val1206Met	missense variant	-	NC_000016.10:g.53619025C>T	TOPMed,gnomAD
rs748020039	p.Ile1207Met	missense variant	-	NC_000016.10:g.53611047G>C	ExAC,gnomAD
rs1442050088	p.Ile1207Phe	missense variant	-	NC_000016.10:g.53611049T>A	TOPMed
rs373993184	p.Val1209Met	missense variant	-	NC_000016.10:g.53611043C>T	ESP,ExAC,TOPMed,gnomAD
rs1266038525	p.Asp1210Val	missense variant	-	NC_000016.10:g.53611039T>A	gnomAD
rs748793625	p.Ala1216Gly	missense variant	-	NC_000016.10:g.53611021G>C	ExAC,gnomAD
rs1164098643	p.Lys1217Glu	missense variant	-	NC_000016.10:g.53611019T>C	TOPMed,gnomAD
rs542633835	p.Lys1217Arg	missense variant	-	NC_000016.10:g.53611018T>C	1000Genomes
rs1224133228	p.Asp1219Ala	missense variant	-	NC_000016.10:g.53611012T>G	TOPMed,gnomAD
rs147046186	p.Ile1220Val	missense variant	-	NC_000016.10:g.53611010T>C	ESP,ExAC,TOPMed,gnomAD
rs747502015	p.Leu1221Ter	stop gained	-	NC_000016.10:g.53611006A>C	ExAC,gnomAD
rs1004217716	p.Ile1224Met	missense variant	-	NC_000016.10:g.53610996T>C	gnomAD
rs778319575	p.Ile1224Leu	missense variant	-	NC_000016.10:g.53610998T>G	ExAC,TOPMed,gnomAD
rs778319575	p.Ile1224Val	missense variant	-	NC_000016.10:g.53610998T>C	ExAC,TOPMed,gnomAD
rs758697413	p.Gln1226Pro	missense variant	-	NC_000016.10:g.53610991T>G	ExAC,gnomAD
rs753018793	p.Gln1228Arg	missense variant	-	NC_000016.10:g.53610985T>C	ExAC,gnomAD
rs141838831	p.Met1230Ile	missense variant	-	NC_000016.10:g.53610978C>T	ESP,ExAC,TOPMed,gnomAD
rs755185425	p.Met1230Leu	missense variant	-	NC_000016.10:g.53610980T>A	ExAC,gnomAD
rs766345950	p.Asn1232Asp	missense variant	-	NC_000016.10:g.53610974T>C	ExAC
rs760891642	p.Arg1233Ser	missense variant	-	NC_000016.10:g.53610969T>A	ExAC,gnomAD
rs1306500140	p.Leu1235Val	missense variant	-	NC_000016.10:g.53605613G>C	TOPMed
RCV000224065	p.Arg1236Cys	missense variant	-	NC_000016.10:g.53605610G>A	ClinVar
rs1410635948	p.Arg1236His	missense variant	-	NC_000016.10:g.53605609C>T	gnomAD
rs151332923	p.Arg1236Cys	missense variant	Meckel syndrome 5 (MKS5)	NC_000016.10:g.53605610G>A	UniProt,dbSNP
VAR_066482	p.Arg1236Cys	missense variant	Meckel syndrome 5 (MKS5)	NC_000016.10:g.53605610G>A	UniProt
rs151332923	p.Arg1236Cys	missense variant	-	NC_000016.10:g.53605610G>A	ESP,ExAC,TOPMed,gnomAD
RCV000764074	p.Arg1236Cys	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53605610G>A	ClinVar
rs763788018	p.Phe1237Tyr	missense variant	-	NC_000016.10:g.53605606A>T	ExAC,gnomAD
rs762873755	p.Phe1237Leu	missense variant	-	NC_000016.10:g.53605605G>T	ExAC,TOPMed,gnomAD
rs1064796997	p.Thr1238Ile	missense variant	-	NC_000016.10:g.53605603G>A	TOPMed
RCV000483922	p.Thr1238Ile	missense variant	-	NC_000016.10:g.53605603G>A	ClinVar
RCV000176677	p.Val1239Met	missense variant	-	NC_000016.10:g.53605601C>T	ClinVar
rs142387463	p.Val1239Met	missense variant	-	NC_000016.10:g.53605601C>T	ESP,ExAC,TOPMed,gnomAD
RCV000727656	p.Val1240Ala	missense variant	-	NC_000016.10:g.53605597A>G	ClinVar
rs759000005	p.Val1240Leu	missense variant	-	NC_000016.10:g.53605598C>G	ExAC,gnomAD
rs201248643	p.Val1240Ala	missense variant	-	NC_000016.10:g.53605597A>G	ESP,ExAC,TOPMed,gnomAD
RCV000195078	p.Val1240Ala	missense variant	-	NC_000016.10:g.53605597A>G	ClinVar
rs1239622461	p.Asp1246Glu	missense variant	-	NC_000016.10:g.53605578G>T	TOPMed,gnomAD
rs201312119	p.Glu1247Lys	missense variant	-	NC_000016.10:g.53605577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1310234471	p.Gln1248Arg	missense variant	-	NC_000016.10:g.53605573T>C	gnomAD
rs148773489	p.Asp1249Asn	missense variant	-	NC_000016.10:g.53605571C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148773489	p.Asp1249Tyr	missense variant	-	NC_000016.10:g.53605571C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000316175	p.Asp1249Tyr	missense variant	-	NC_000016.10:g.53605571C>A	ClinVar
rs779532350	p.Leu1250Val	missense variant	-	NC_000016.10:g.53605568G>C	ExAC,gnomAD
rs994359073	p.Asp1254Asn	missense variant	-	NC_000016.10:g.53605556C>T	TOPMed
rs749664648	p.Ile1255Thr	missense variant	-	NC_000016.10:g.53605552A>G	ExAC,TOPMed,gnomAD
rs1192962551	p.Ile1255Val	missense variant	-	NC_000016.10:g.53605553T>C	gnomAD
rs536037779	p.Val1257Met	missense variant	-	NC_000016.10:g.53605547C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000469572	p.Val1260Ile	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53605538C>T	ClinVar
rs781401167	p.Val1260Ile	missense variant	-	NC_000016.10:g.53605538C>T	ExAC,TOPMed,gnomAD
RCV000499574	p.Asp1261Asn	missense variant	-	NC_000016.10:g.53605535C>T	ClinVar
rs1445612197	p.Asp1261Tyr	missense variant	-	NC_000016.10:g.53605535C>A	gnomAD
rs1445612197	p.Asp1261Asn	missense variant	-	NC_000016.10:g.53605535C>T	gnomAD
RCV000114220	p.Asp1264Asn	missense variant	-	NC_000016.10:g.53605526C>T	ClinVar
rs3213758	p.Asp1264Asn	missense variant	-	NC_000016.10:g.53605526C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_066483	p.Asp1264Tyr	Missense	-	-	UniProt
rs764102183	p.Met1265Leu	missense variant	-	NC_000016.10:g.53605523T>A	ExAC,gnomAD
rs762601928	p.Gln1267Lys	missense variant	-	NC_000016.10:g.53605517G>T	ExAC,gnomAD
rs762601928	p.Gln1267Glu	missense variant	-	NC_000016.10:g.53605517G>C	ExAC,gnomAD
rs752514830	p.Glu1268Gly	missense variant	-	NC_000016.10:g.53605513T>C	ExAC,gnomAD
rs764832127	p.Ile1273Thr	missense variant	-	NC_000016.10:g.53605498A>G	ExAC,TOPMed,gnomAD
rs1352682459	p.Ile1273Val	missense variant	-	NC_000016.10:g.53605499T>C	gnomAD
rs1244061656	p.Ile1273Met	missense variant	-	NC_000016.10:g.53605497A>C	gnomAD
rs759155342	p.Glu1274Lys	missense variant	-	NC_000016.10:g.53605496C>T	ExAC,gnomAD
rs776310931	p.Gln1275Arg	missense variant	-	NC_000016.10:g.53605492T>C	ExAC,gnomAD
rs770410795	p.Ile1277Val	missense variant	-	NC_000016.10:g.53605487T>C	ExAC,TOPMed,gnomAD
rs370655253	p.Asp1278Asn	missense variant	-	NC_000016.10:g.53605484C>T	ESP,ExAC,TOPMed,gnomAD
RCV000820913	p.Phe1280Ser	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53602185A>G	ClinVar
RCV000284914	p.Phe1280Ser	missense variant	Nephronophthisis	NC_000016.10:g.53602185A>G	ClinVar
RCV000385189	p.Phe1280Ser	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53602185A>G	ClinVar
rs377402117	p.Phe1280Ser	missense variant	-	NC_000016.10:g.53602185A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000321256	p.Phe1280Ser	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53602185A>G	ClinVar
rs754697392	p.Arg1283Ter	stop gained	-	NC_000016.10:g.53602177G>A	ExAC,TOPMed,gnomAD
rs753647152	p.Arg1283Gln	missense variant	-	NC_000016.10:g.53602176C>T	ExAC,TOPMed,gnomAD
rs754697392	p.Arg1283Gly	missense variant	-	NC_000016.10:g.53602177G>C	ExAC,TOPMed,gnomAD
rs765898122	p.Asp1285Asn	missense variant	-	NC_000016.10:g.53602171C>T	ExAC,gnomAD
rs755820734	p.Gly1286Val	missense variant	-	NC_000016.10:g.53602167C>A	ExAC,TOPMed,gnomAD
rs755820734	p.Gly1286Asp	missense variant	-	NC_000016.10:g.53602167C>T	ExAC,TOPMed,gnomAD
rs1469581898	p.Glu1287Lys	missense variant	-	NC_000016.10:g.53602165C>T	gnomAD
rs745687958	p.Gly1288Val	missense variant	-	NC_000016.10:g.53602161C>A	ExAC,gnomAD
rs745687958	p.Gly1288Asp	missense variant	-	NC_000016.10:g.53602161C>T	ExAC,gnomAD
rs761483020	p.Leu1292Phe	missense variant	-	NC_000016.10:g.53602150G>A	ExAC,TOPMed,gnomAD
RCV000260371	p.Arg1293Thr	missense variant	-	NC_000016.10:g.53602146C>G	ClinVar
rs765853965	p.Arg1293Ser	missense variant	-	NC_000016.10:g.53602145C>G	ExAC,TOPMed,gnomAD
rs776074152	p.Arg1293Thr	missense variant	-	NC_000016.10:g.53602146C>G	ExAC,gnomAD
rs1203979901	p.Val1294Ile	missense variant	-	NC_000016.10:g.53602144C>T	gnomAD
rs1285970142	p.Val1296Ile	missense variant	-	NC_000016.10:g.53602138C>T	gnomAD
rs777088047	p.Glu1297Lys	missense variant	-	NC_000016.10:g.53602135C>T	ExAC,gnomAD
rs771243025	p.Glu1297Gly	missense variant	-	NC_000016.10:g.53602134T>C	ExAC,TOPMed,gnomAD
rs371501847	p.Ala1298Val	missense variant	-	NC_000016.10:g.53602131G>A	ESP,ExAC,TOPMed,gnomAD
rs1382585193	p.Ala1301Val	missense variant	-	NC_000016.10:g.53602122G>A	gnomAD
rs1446259139	p.Ala1301Thr	missense variant	-	NC_000016.10:g.53602123C>T	TOPMed,gnomAD
rs139246920	p.Lys1307Arg	missense variant	-	NC_000016.10:g.53602104T>C	ESP,ExAC,TOPMed,gnomAD
rs1015987821	p.Tyr1309His	missense variant	-	NC_000016.10:g.53602099A>G	TOPMed,gnomAD
rs547718820	p.Arg1310Gly	missense variant	-	NC_000016.10:g.53602096T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1471686078	p.Ala1315Asp	missense variant	-	NC_000016.10:g.53602080G>T	gnomAD
rs779866112	p.Ala1315Ser	missense variant	-	NC_000016.10:g.53602081C>A	ExAC,gnomAD
rs779866112	p.Ala1315Pro	missense variant	-	NC_000016.10:g.53602081C>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002902	Anencephaly	disease	HPO
C0003578	Apnea	phenotype	HPO
C0005586	Bipolar Disorder	disease	BEFREE
C0005745	Blepharoptosis	disease	HPO
C0007758	Cerebellar Ataxia	phenotype	HPO
C0007760	Cerebellar Diseases	group	CTD_human
C0008780	Ciliary Motility Disorders	group	CTD_human
C0008924	Cleft upper lip	disease	HPO
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND;HPO
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	GWASCAT
C0014065	Congenital cerebral hernia	disease	HPO
C0014067	Occipital Encephalocele	disease	HPO
C0015397	Disorder of eye	group	CTD_human
C0018802	Congestive heart failure	disease	BEFREE
C0019209	Hepatomegaly	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020541	Hypertension, Portal	disease	HPO
C0022658	Kidney Diseases	group	BEFREE;CTD_human;HPO
C0022679	Cystic kidney	disease	HPO
C0023890	Liver Cirrhosis	disease	HPO
C0023895	Liver diseases	group	BEFREE
C0024433	Macrostomia	disease	HPO
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0026351	Moderate mental retardation (I.Q. 35-49)	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0026838	Muscle Spasticity	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	BEFREE
C0029124	Optic Atrophy	disease	HPO
C0035078	Kidney Failure	disease	HPO
C0035304	Retinal Degeneration	phenotype	CTD_human
C0037932	Curvature of spine	phenotype	HPO
C0038002	Splenomegaly	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0042900	Vitiligo	disease	GWASCAT;GWASDB
C0079924	Oligohydramnios	phenotype	HPO
C0086543	Cataract	disease	HPO
C0086565	Liver Dysfunction	phenotype	HPO
C0151686	Growth retardation	phenotype	HPO
C0151766	Liver function tests abnormal finding	phenotype	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0155299	Coloboma of optic disc	disease	HPO
C0175692	Johanson-Blizzard syndrome	disease	BEFREE
C0175754	Agenesis of corpus callosum	disease	BEFREE
C0220697	POLYDACTYLY, POSTAXIAL	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0235996	Elevated liver enzymes	phenotype	HPO
C0239479	Round face	phenotype	HPO
C0239946	Fibrosis, Liver	disease	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0265215	Meckel-Gruber syndrome	disease	BEFREE;CLINVAR;ORPHANET
C0266544	Microcornea	disease	HPO
C0267818	Bile duct proliferation	disease	HPO
C0311245	Congenital cystic kidney disease	disease	MGD
C0339527	Leber Congenital Amaurosis	disease	BEFREE
C0403553	Renal dysplasia and retinal aplasia (disorder)	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE;CLINVAR
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0438237	Liver enzymes abnormal	phenotype	HPO
C0438717	Transaminases increased	phenotype	HPO
C0456070	Growth delay	phenotype	HPO
C0497406	Overweight	phenotype	BEFREE
C0520680	Sleep Apnea, Central	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0687120	Nephronophthisis	disease	BEFREE;HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0795841	Jacobsen Distal 11q Deletion Syndrome	disease	BEFREE
C0854723	Retinal Dystrophies	group	HPO
C0877359	Increased liver function tests	phenotype	HPO
C0878787	Growth failure	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C1167713	Decreased corneal diameter	phenotype	HPO
C1301937	Talipes	disease	HPO
C1408258	Kidney damage	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1565489	Renal Insufficiency	disease	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1836047	Long face	phenotype	HPO
C1837385	Poor growth	phenotype	HPO
C1839604	Renal failure in adulthood	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1842003	Subclinical abnormal liver function tests	phenotype	HPO
C1842581	Abnormality of the corpus callosum	phenotype	HPO
C1842688	Hypoplasia of the brainstem	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1846790	JOUBERT SYNDROME 4 (disorder)	disease	ORPHANET
C1848701	Elevated hepatic transaminases	phenotype	HPO
C1853235	Sclerocornea	disease	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1855284	Intrahepatic biliary atresia	phenotype	HPO
C1855340	Bowing of the long bones	phenotype	HPO
C1855677	Brainstem dysplasia	phenotype	HPO
C1856468	Round, full face	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857662	COACH syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1857679	Sloping forehead	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C1969052	MECKEL SYNDROME, TYPE 5	disease	CLINVAR;CTD_human;UNIPROT
C1969053	JOUBERT SYNDROME 7	disease	CLINVAR;CTD_human;MGD;UNIPROT
C2112129	Postaxial foot polydactyly	disease	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	HPO
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3489733	Oculomotor apraxia	disease	HPO
C3550658	Maternal oligohydramnios	phenotype	HPO
C3552463	Very poor growth	phenotype	HPO
C3552713	Talipes foot deformities	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714506	Meckel syndrome type 1	disease	BEFREE
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806216	Neonatal breathing dysregulation	phenotype	HPO
C3806218	Episodic tachypnea	phenotype	HPO
C3806443	Puffy cheeks	phenotype	HPO
C3887499	Renal cyst	phenotype	HPO
C4020790	Medullary sponge kidney disease	disease	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020886	Defective or absent horizontal voluntary eye movements	phenotype	HPO
C4021821	Abnormality of the urinary system	disease	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024644	Multiple small medullary renal cysts	disease	HPO
C4024748	Aplasia/Hypoplasia of the iris	phenotype	HPO
C4025844	Chorioretinal abnormality	phenotype	HPO
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
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
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:0031870	thromboxane A2 receptor binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0001736	establishment of planar polarity	IEA
GO:0001822	kidney development	IEA
GO:0001889	liver development	IEA
GO:0007163	establishment or maintenance of cell polarity	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0008589	regulation of smoothened signaling pathway	IEA
GO:0021532	neural tube patterning	IEA
GO:0021549	cerebellum development	IEA
GO:0021670	lateral ventricle development	IEA
GO:0021772	olfactory bulb development	IEA
GO:0022038	corpus callosum development	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0043010	camera-type eye development	IEA
GO:0043584	nose development	IEA
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	IDA
GO:0060039	pericardium development	IEA
GO:0090102	cochlea development	IEA
GO:0097711	ciliary basal body-plasma membrane docking	TAS
GO:1905515	non-motile cilium assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005813	centrosome	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0005879	axonemal microtubule	IEA
GO:0005886	plasma membrane	IDA
GO:0005911	cell-cell junction	IDA
GO:0005923	bicellular tight junction	IEA
GO:0005929	cilium	IDA
GO:0005930	axoneme	IDA
GO:0032391	photoreceptor connecting cilium	IEA
GO:0035253	ciliary rootlet	IEA
GO:0035869	ciliary transition zone	IDA
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
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of RPGRIP1L mRNA	28973690
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RPGRIP1L mRNA	20382639
C496492	abrine	abrine results in decreased expression of RPGRIP1L mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of RPGRIP1L protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of RPGRIP1L gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of RPGRIP1L intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of RPGRIP1L intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of RPGRIP1L mRNA	20106945; 21632981;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of RPGRIP1L mRNA	22228805
C006780	bisphenol A	bisphenol A results in decreased expression of RPGRIP1L mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of RPGRIP1L gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of RPGRIP1L mRNA	26079696
C026690	cerous chloride	cerous chloride results in decreased expression of RPGRIP1L mRNA	23573234
D016572	Cyclosporine	Cyclosporine affects the expression of RPGRIP1L mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in decreased expression of RPGRIP1L mRNA	25562108
D004317	Doxorubicin	Doxorubicin results in decreased expression of RPGRIP1L mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of RPGRIP1L mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RPGRIP1L mRNA	22079256
D007840	Latex	Latex analog results in decreased expression of RPGRIP1L mRNA	24768652
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of RPGRIP1L mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of RPGRIP1L mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of RPGRIP1L mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of RPGRIP1L mRNA	25554681
D010042	Ouabain	Ouabain results in decreased expression of RPGRIP1L mRNA	16412265
D015125	Oxyquinoline	Oxyquinoline results in decreased expression of RPGRIP1L mRNA	21632981
D010936	Plant Extracts	Plant Extracts results in increased expression of RPGRIP1L mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RPGRIP1L mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of RPGRIP1L mRNA	22079256
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of RPGRIP1L mRNA	23608068
D011794	Quercetin	Quercetin results in increased expression of RPGRIP1L mRNA	21632981
D000077210	Sunitinib	Sunitinib results in increased expression of RPGRIP1L mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of RPGRIP1L mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RPGRIP1L mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RPGRIP1L mRNA	22298810
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of RPGRIP1L mRNA	28065790
D014520	Urethane	Urethane results in decreased expression of RPGRIP1L mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of RPGRIP1L mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of RPGRIP1L mRNA	23179753
D014635	Valproic Acid	Valproic Acid affects the splicing of RPGRIP1L mRNA	29427782

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0979	Joubert syndrome
KW-0981	Meckel syndrome
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0796	Tight junction

Interpro

InterPro ID	InterPro Term
IPR021656	C2-C2_1
IPR000008	C2_dom
IPR035892	C2_domain_sf
IPR041091	RPGRIP1_C
IPR031139	RPGRIP1_fam
IPR031136	RPGRIP1L

PROSITE

PROSITE ID	PROSITE Term
PS50004	C2

Pfam

Pfam ID	Pfam Term
PF00168	C2
PF11618	C2-C2_1
PF18111	RPGR1_C

Gene: RPGRIP1L

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

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

Protein-miRNA interaction