AiPD: Autoinhibited Protein Database

Q01974

Gene name	ROR2 (NTRKR2)
Protein name	Tyrosine-protein kinase transmembrane receptor ROR2
Names	Neurotrophic tyrosine kinase, receptor-related 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4920
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Ror2 (receptor tyrosine kinase-like orphan receptor 2, an unconventional Wnt receptor) may be involved in the early formation of chondrocytes and may be required for cartilage and growth plate development. Ror2 autoinhibition combines several elements. Its activation loop occludes the substrate- and ATP-binding sites and the interactions between the activation loop and αC helix in the N-terminal lobe stabilizes the autoinhibited state of Ror2.

Autoinhibitory domains (AIDs)

Target domain	473-746 (Protein kinase domain)
Relief mechanism	Others
Assay	Structural analysis

AID

518-530 (αC helix)

Target domain

473-746 (Protein kinase domain)

Relief mechanism

Others (Dissociation of DLG motif within the activation loop from αC helix)

Assay

Structural analysis

Accessory elements

632-657 (Activation loop)

Target domain	473-746 (Protein kinase domain)
Relief mechanism	PTM
Assay

References

Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Autoinhibited structure

Activated structure

6 structures for Q01974

Entry ID	Method	Resolution	Chain	Position	Source
3ZZW	X-ray	290 A	A/B	464-751	PDB
4GT4	X-ray	241 A	A/B	452-753	PDB
6OSH	X-ray	112 A	K	314-394	PDB
6OSN	X-ray	108 A	A	314-394	PDB
6OSV	X-ray	134 A	K	314-394	PDB
AF-Q01974-F1	Predicted				AlphaFoldDB

900 variants for Q01974

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA238800 RCV000272869 RCV000363075 rs539329891 RCV000173350	3	R>W	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001166439 rs201991252 CA5121125 RCV001166440	49	G>V	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201425107 RCV001169382 RCV001169381 RCV002068039 CA5121120	52	G>D	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs768160554 RCV001169379 RCV001169380	60	Y>S	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1224140 RCV000855449 rs1587690611 CA373840721	108	R>Q	large_intestine Autosomal recessive Robinow syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000007738 RCV000238984 rs121909087 CA254149	119	R>*	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000007731 CA254144 VAR_010768 rs121909084	184	R>C	RRS1 Autosomal recessive Robinow syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_010769 CA5120973 rs199975149	189	R>W	RRS1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000271810 rs34574788 CA5120972 RCV000337531 RCV000329348	190	T>A	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000007733 rs121909086 CA254147	205	R>*	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001166903 COSM1555631 RCV001751297 rs771096772 CA5120912 RCV001166902	241	A>E	lung Brachydactyly type B1 Autosomal recessive Robinow syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
VAR_041787 CA5120907 RCV001166380 RCV001166381 rs55737262	244	R>Q	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA246689 RCV000779586 RCV001511051 rs148340413 RCV001166901 RCV000179445	244	R>W	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs10820900 VAR_010912 CA173332 RCV000299600 RCV000147392 RCV000357148	245	T>A	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002067833 RCV001169313 RCV001169314 CA5120900 rs374492597	254	D>N	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001169312 CA195333616 rs867038828 RCV001169311	296	D>N	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001353133 CA207847 RCV000193988 rs767372181	302	R>C	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000384676 rs188376581 RCV002058819 CA5120858 RCV001310265 RCV000327244	312	R>H	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000147395 CA272469 rs371221714 RCV000276095	329	S>N	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001166841 RCV001166842 rs1837228232	330	T>I	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001265650 rs1837228121	331	T>missing	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000147381 rs55983376 CA173314 RCV000315906 RCV000224263 VAR_041788 RCV000354471	349	H>D	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001166839 RCV001166840 rs1716064320	368	P>R	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002058818 rs149842671 RCV000360660 RCV000308020 CA5120732	436	A>V	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000007735 RCV000007734 rs863223290	441	R>missing	Brachydactyly type B1 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals [ClinVar]	Yes	ClinVar dbSNP
RCV001169237 RCV001169236 rs1837043278	449	S>R	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1365019676 RCV001548753	452	M>missing	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1587657302 RCV000007740	456	L>missing	Brachydactyly type B1 [ClinVar]	Yes	ClinVar dbSNP
RCV000731519 RCV000397545 CA5120683 RCV000290524 COSM456220 rs767474960	483	R>Q	Brachydactyly type B1 Autosomal recessive Robinow syndrome breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs121909083 RCV000007730 CA254142	502	Q>*	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5120656 RCV000388602 RCV000317822 rs148896640	518	R>W	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000855448 rs1587655016	522	R>missing	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000509126 RCV000279061 CA5120640 rs35852786 VAR_041790 RCV000288113	530	R>Q	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000265108 RCV000319060 rs35764413 VAR_041792 CA5120624	548	P>S	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000324883 RCV000406751 RCV000377123 CA5120616 VAR_041793 rs56099091	557	S>L	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000312844 RCV000273411 rs376970201 CA5120599 RCV000365373	571	H>R	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000400229 RCV000352520 rs140579674 CA5120595	574	V>L	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000395654 RCV000324852 CA5120580 RCV000314104 rs142386294	586	A>T	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769849104 RCV000282386 CA5120552 RCV000335096	607	S>F	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001168442 RCV001168443 rs1836942190	624	Y>N	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
rs863223291 RCV000007737	646	Y>missing	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000147384 CA173318 rs529829552 RCV001353137 RCV000171424	657	R>H	Brachydactyly, type B1Robinow syndrome, autosomal recessive Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5120515 RCV001166717 rs763115397 RCV001166716	665	M>I	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs142386992 CA248108 RCV000180607 RCV000660425	694	C>R	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000147385 RCV000286668 CA173320 RCV000378747 rs34431454 VAR_041796	695	G>R	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000007732 rs121909085 CA254145	720	W>*	Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000314957 rs56231927 RCV000276157 RCV001310262 VAR_041797 CA5120455	738	R>C	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs374646337 RCV002226720 RCV000657780 RCV000779585 CA5120442	747	R>*	ROR2-Related Disorders Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1836916256 RCV001169141 RCV001169140	748	A>S	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000007741 rs863223292	749	W>missing	Brachydactyly type B1 [ClinVar]	Yes	ClinVar dbSNP
RCV000007728 CA118707 rs104894122	749	W>*	Brachydactyly type B1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104894121 CA118709 RCV000007736	749	W>*	Brachydactyly type B1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000007729 rs863223289	750	G>missing	Brachydactyly type B1 [ClinVar]	Yes	ClinVar dbSNP
CA118705 rs121909082 RCV000007727	755	Y>*	Brachydactyly type B1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001773668 RCV001332481 rs1836911147	769	Q>*	Brachydactyly type B1 [ClinVar]	Yes	ClinVar dbSNP
rs1057515680 RCV000397085 RCV000303094 CA10634096	772	S>T	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000285938 RCV000343192 rs141235720 RCV000180604 CA248104 COSM48755	799	P>S	lung Brachydactyly type B1 large_intestine Autosomal recessive Robinow syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA173328 rs10761129 VAR_010913 RCV000147389 RCV000344414 RCV000382446	819	V>I	Autosomal dominant Robinow syndrome 1 Brachydactyly type B1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001166642 RCV001166643 rs1253369894 CA373794248	820	P>A	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1836888405 RCV001293680 RCV001310271	876	T>missing	Brachydactyly type B1 [ClinVar]	Yes	ClinVar dbSNP
rs373037095 RCV000293100 CA5120341 RCV000331525 RCV001861351	883	M>I	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5120335 rs149826387 RCV000330356 RCV000332907 RCV000389667	895	D>G	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001166154 RCV001166155 rs199855010	928	D>N	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinVar dbSNP
CA248106 RCV000513925 RCV000147390 VAR_041799 rs41277835 RCV000180606 RCV000262682	935	D>E	Brachydactyly type B1 Autosomal recessive Robinow syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1453779938 CA373841610	2	A>G		No	ClinGen TOPMed
CA373841599 rs1246129623	4	G>A		No	ClinGen TOPMed
CA5121154 rs750498885	5	S>L		No	ClinGen ExAC gnomAD
CA196010509 rs568551091	6	A>S		No	ClinGen 1000Genomes
rs762118701 CA5121152	6	A>V		No	ClinGen ExAC gnomAD
CA373841577 rs1481119994	8	P>L		No	ClinGen TOPMed
CA373841568 rs1221994563	10	R>Q		No	ClinGen gnomAD
rs1306668965 CA373841564	11	P>S		No	ClinGen gnomAD
CA373841552 rs1216491559	13	L>R		No	ClinGen TOPMed gnomAD
CA196010505 RCV000730048 rs1053014086	13	L>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA5121150 rs764493240	14	C>R		No	ClinGen ExAC gnomAD
CA5121149 rs761282900	14	C>Y		No	ClinGen ExAC gnomAD
CA373841543 rs1439414155	15	I>F		No	ClinGen gnomAD
CA373841535 rs1373801601	16	P>Q		No	ClinGen gnomAD
CA373841534 rs1373801601	16	P>R		No	ClinGen gnomAD
rs1158084082 CA373841537	16	P>T		No	ClinGen TOPMed
rs1383062255 CA373841527	17	A>V		No	ClinGen TOPMed gnomAD
rs1020302893 CA196010499	18	V>A		No	ClinGen TOPMed
CA373841526 rs1167881966	18	V>I		No	ClinGen TOPMed gnomAD
rs1167881966 CA373841525	18	V>L		No	ClinGen TOPMed gnomAD
CA373841466 rs1452552462	27	S>L		No	ClinGen gnomAD
rs1191657210 CA373841465	28	V>M		No	ClinGen gnomAD
CA373841455 rs1309442255	29	S>C		No	ClinGen TOPMed
rs1348200999 CA373841453	30	R>G		No	ClinGen TOPMed
rs745418749 CA5121146	31	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5121135 rs757564193	33	G>D		No	ClinGen ExAC gnomAD
rs1412470771 CA373841172	37	V>D		No	ClinGen gnomAD
rs1311913004 CA373841177	37	V>I		No	ClinGen gnomAD
rs1311913004 CA373841175	37	V>L		No	ClinGen gnomAD
CA5121133 rs764583168	39	D>Y		No	ClinGen ExAC gnomAD
rs761159958 CA5121132	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767966492 CA5121130	42	D>Y		No	ClinGen ExAC gnomAD
rs760022521 CA5121129	43	P>S		No	ClinGen ExAC gnomAD
rs1284771735 CA373841113	47	L>F		No	ClinGen gnomAD
rs769187247 CA195977524	47	L>R		No	ClinGen gnomAD
rs201991252 CA5121126	49	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769416864 CA373841098	50	Q>E		No	ClinGen ExAC gnomAD
rs769416864 CA5121124	50	Q>K		No	ClinGen ExAC gnomAD
rs781040501 COSM1111038 CA5121121	52	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5121119 rs746902654	53	P>L		No	ClinGen ExAC
rs377379000 CA5121118	54	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs757369497 CA5121117	55	P>L		No	ClinGen ExAC gnomAD
CA5121116 rs373390754	56	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs779047326 CA195977522	57	L>M		No	ClinGen ExAC gnomAD
CA5121114 rs756391469	57	L>P		No	ClinGen ExAC gnomAD
CA373841056 rs756391469	57	L>Q		No	ClinGen ExAC gnomAD
rs779047326 CA5121115	57	L>V		No	ClinGen ExAC gnomAD
rs776304022 CA5121087	59	G>A		No	ClinGen ExAC gnomAD
rs768160554 CA5121086	60	Y>C		No	ClinGen ExAC gnomAD
CA373840978 rs1228533389	67	P>S		No	ClinGen gnomAD
CA373840959 rs1217680296	69	N>K		No	ClinGen TOPMed
rs1347384827 CA373840963	69	N>T		No	ClinGen TOPMed
CA5121083 rs772202601	70	N>S		No	ClinGen ExAC
rs745733784 CA5121082	71	I>V		No	ClinGen ExAC gnomAD
CA195975359 rs1043796672	73	I>M		No	ClinGen Ensembl
rs1235241103 CA373840923	75	Q>R		No	ClinGen gnomAD
rs946786187 CA195975358	76	G>V		No	ClinGen Ensembl
CA5121080 rs769878329	77	Q>H		No	ClinGen ExAC gnomAD
COSM1463551 CA5121079 rs369545969 RCV000388915	78	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000729540 rs369545969 CA373840903	78	T>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA373840882 rs1372611918	82	H>N		No	ClinGen TOPMed gnomAD
CA5121077 rs755144770	82	H>R		No	ClinGen ExAC gnomAD
CA373840874 rs1434209233	83	C>Y		No	ClinGen gnomAD
rs747477231 CA5121076	86	A>S		No	ClinGen ExAC gnomAD
CA373840851 rs1363633881	86	A>V		No	ClinGen gnomAD
rs1435483013 CA373840846	87	G>A		No	ClinGen TOPMed
CA5121074 rs758916160	90	P>S		No	ClinGen ExAC gnomAD
rs1205352323 CA373840821	91	P>H		No	ClinGen gnomAD
rs1205352323 CA373840820	91	P>L		No	ClinGen gnomAD
rs1220938638 CA373840807	93	V>G		No	ClinGen gnomAD
CA195975356 rs567141196	93	V>M		No	ClinGen gnomAD
rs367829411 CA5121070	94	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756830208 CA5121071	94	R>W		No	ClinGen ExAC TOPMed gnomAD
rs35745215 CA195975355	97	K>N		No	ClinGen ESP ExAC gnomAD
RCV000177208 CA243328 RCV000724079 rs374692105 COSM1224138	100	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD
rs370882834 RCV001310267 CA5121067	101	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA195975354 rs373904882	101	P>S		No	ClinGen ESP TOPMed gnomAD
CA195975352 rs953714307	103	V>A		No	ClinGen Ensembl
rs774471352 CA5121065	104	Q>*		No	ClinGen ExAC gnomAD
COSM99114 CA5121064 rs145999828	106	P>L	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1384907380 CA373840731	106	P>T		No	ClinGen gnomAD
rs201295111 CA5121061	107	R>Q		No	ClinGen ExAC gnomAD
rs201740043 CA5121062	107	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1472255291 COSM1463549 CA373840723	108	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1235297607 CA373840710	110	I>V		No	ClinGen gnomAD
rs1211578873 CA373840703	111	I>V		No	ClinGen gnomAD
CA5121059 rs780415376	112	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA195975351 rs868585233	112	R>W		No	ClinGen Ensembl
CA373840677 rs1370278872	115	E>A		No	ClinGen TOPMed
rs1241007392 CA373840668	116	Y>C		No	ClinGen TOPMed
CA5121057 rs746196217	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA373840644 rs1351801038	121	R>G		No	ClinGen TOPMed
CA373840640 rs1377209414 COSM1720287	121	R>Q	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1587690548 CA373840622	124	D>A		No	ClinGen Ensembl
CA5121056 rs779443497	124	D>N		No	ClinGen ExAC gnomAD
CA5121055 rs567884248	125	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5121054 rs763445626	126	D>G		No	ClinGen ExAC TOPMed gnomAD
rs375080866 CA5121052 RCV000376962	127	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs759454438 CA5121050	130	T>I		No	ClinGen ExAC gnomAD
rs762735232 CA5121047	132	Y>*		No	ClinGen ExAC gnomAD
CA5121048 rs766409977	132	Y>F		No	ClinGen ExAC gnomAD
rs774277014 CA5121049	132	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA373840548 rs776789257	135	C>W		No	ClinGen ExAC gnomAD
rs768565551 CA5121045	136	V>M		No	ClinGen ExAC gnomAD
CA373840536 rs1587690480	138	T>P		No	ClinGen Ensembl
rs1179983535 COSM609850 CA373840524	139	N>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA373840521 rs1378081469	140	G>R		No	ClinGen TOPMed
rs775727009 CA5121043	141	M>R		No	ClinGen ExAC gnomAD
rs747260134 CA5121044	141	M>V		No	ClinGen ExAC gnomAD
rs1587690450 CA373840495	144	I>L		No	ClinGen Ensembl
CA5121041 rs746287807	145	T>I		No	ClinGen ExAC gnomAD
CA5121042 rs772256708	145	T>P		No	ClinGen ExAC gnomAD
COSM1111036 rs1056691051 CA195975348	146	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1437965966 CA373840477	147	T>A		No	ClinGen TOPMed gnomAD
rs1366524509 CA373840474	147	T>S		No	ClinGen gnomAD
rs749699077 CA5121038	149	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1389065916 CA373840441	153	R>Q		No	ClinGen gnomAD
COSM1472286 CA5121036 rs745695427	153	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5121019 rs201461819	156	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5121018 rs747729518	157	T>M		No	ClinGen ExAC gnomAD
CA5121016 rs754694476	161	N>Y		No	ClinGen ExAC gnomAD
rs1286072020 CA373840376	162	H>N		No	ClinGen gnomAD
rs569718323 CA5121015	162	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs779925623 CA5121014	163	N>I		No	ClinGen ExAC gnomAD
rs906470316 CA195975208	164	F>I		No	ClinGen Ensembl
CA373840357 rs1428164118	164	F>L		No	ClinGen gnomAD
CA373802219 rs1225529582	165	Q>H		No	ClinGen gnomAD
CA373840353 rs1196894198	165	Q>K		No	ClinGen gnomAD
CA373840351 rs1301731825	165	Q>R		No	ClinGen gnomAD
CA5120988 rs767615145	166	D>Y		No	ClinGen ExAC gnomAD
CA5120987 rs751644349	168	Y>C		No	ClinGen ExAC gnomAD
rs1055333404 CA195337932	169	H>L		No	ClinGen Ensembl
CA5120986 rs766575199	169	H>Y		No	ClinGen ExAC
CA373802163 rs1322401357	170	E>K		No	ClinGen TOPMed gnomAD
CA5120984 rs773459846	171	D>E		No	ClinGen ExAC gnomAD
rs1459628208 CA373802083	176	P>L		No	ClinGen gnomAD
CA5120980 rs746562213	178	R>P		No	ClinGen ExAC gnomAD
CA5120979 rs746562213	178	R>Q		No	ClinGen ExAC gnomAD
CA5120981 rs377228797	178	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs553341457 CA5120978	180	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373802018 rs1469581173	183	A>P		No	ClinGen gnomAD
rs771629583 CA5120977	184	R>H		No	ClinGen ExAC gnomAD
RCV001310266 rs1825070299	185	F>L		No	ClinVar dbSNP
CA5120976 rs745469214	186	I>T		No	ClinGen ExAC
CA373801965 rs1265707472	188	N>D		No	ClinGen gnomAD
rs757007467 CA5120974	188	N>S		No	ClinGen ExAC gnomAD
CA5120975 rs757007467	188	N>T		No	ClinGen ExAC gnomAD
RCV000598728 rs1554754007	191	I>missing		No	ClinVar dbSNP
CA5120970 rs751593724	191	I>V		No	ClinGen ExAC
CA5120969 rs766422288	194	D>Y		No	ClinGen ExAC gnomAD
rs35050720 CA195337837	195	S>L		No	ClinGen Ensembl
rs964805474 CA195337850	195	S>P		No	ClinGen Ensembl
CA195337817 rs150680684	197	Q>H		No	ClinGen Ensembl
rs750630279 CA5120967	198	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5120965 rs762321108	199	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs762321108 CA373801847	199	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5120966 rs765520144	199	Q>P		No	ClinGen ExAC gnomAD
CA373801844 rs1446960657	200	G>R		No	ClinGen TOPMed
CA373801828 rs1366464165	201	E>G		No	ClinGen gnomAD
CA5120964 rs754244868	201	E>Q		No	ClinGen ExAC gnomAD
CA5120963 rs764578322	202	I>T		No	ClinGen ExAC TOPMed gnomAD
rs752557850 CA5120961	205	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1018510591 CA195337764	206	I>L		No	ClinGen Ensembl
rs985333513 CA195337763	206	I>M		No	ClinGen Ensembl
rs747862665 CA5120934	208	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5120932 rs768469342	209	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM609851 rs1312931620 CA373801571	210	F>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5120931 rs746015960	210	F>V		No	ClinGen ExAC gnomAD
CA5120930 rs779072991	211	T>P		No	ClinGen ExAC gnomAD
rs1336789467 CA373801525	214	G>S		No	ClinGen gnomAD
rs1453971459 CA373801508	215	T>M		No	ClinGen gnomAD
CA195334112 rs999240054	215	T>P		No	ClinGen TOPMed
CA373801482 rs1353369466	217	T>A		No	ClinGen TOPMed
CA5120928 rs146127454	217	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756543109 CA5120927	218	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA195334111 rs531407826	218	H>R		No	ClinGen 1000Genomes
rs928519694 CA195334102	220	S>*		No	ClinGen TOPMed gnomAD
rs928519694 CA373801447	220	S>L		No	ClinGen TOPMed gnomAD
CA373801436 rs1461699343	221	D>E		No	ClinGen gnomAD
CA373801427 rs1247231667	222	Q>R		No	ClinGen gnomAD
rs567313546 CA5120922	225	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120923 rs567313546	225	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1354399868 CA373801373	227	A>T		No	ClinGen TOPMed gnomAD
CA373801349 rs1454020089	229	P>S		No	ClinGen gnomAD
CA373801309 rs1319070491	232	C>*		No	ClinGen gnomAD
rs1462902783 CA373801285	234	F>S		No	ClinGen TOPMed
CA373801274 rs1440251391	235	V>E		No	ClinGen TOPMed
CA195334084 rs140179632	235	V>M		No	ClinGen ESP TOPMed gnomAD
rs1404383049 CA373801241	238	L>P		No	ClinGen gnomAD
rs776288875 CA5120916	240	D>N		No	ClinGen ExAC TOPMed gnomAD
rs141577636 CA5120914 RCV000922535	241	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5120913 rs771096772	241	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778107703 CA5120910	242	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5120909 rs756285939	242	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756285939 CA373801197	242	R>L		No	ClinGen ExAC TOPMed gnomAD
CA373801191 rs1180848542	243	S>Y		No	ClinGen TOPMed
rs55737262 CA5120908	244	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766838260 CA5120906	247	K>T		No	ClinGen ExAC TOPMed gnomAD
CA373801144 rs1363164502	248	P>L		No	ClinGen gnomAD
rs1435366469 CA373801139	249	R>C		No	ClinGen TOPMed gnomAD
rs1347793502 CA373801138	249	R>H		No	ClinGen TOPMed gnomAD
rs1435366469 CA373801141	249	R>S		No	ClinGen TOPMed gnomAD
rs761308967 CA5120902	251	L>P		No	ClinGen ExAC TOPMed gnomAD
rs138349801 CA195333933	253	R>C		No	ClinGen ESP gnomAD
rs775610296 CA373801080	254	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5120899 rs760726459 COSM1581612	254	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA373801065 rs1271380117	256	C>G		No	ClinGen TOPMed
RCV001310268 CA5120896 rs543118807	257	E>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs887214028 CA195333848	258	V>G		No	ClinGen Ensembl
rs572590286 CA373801028	259	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs748267132 CA5120893	260	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1284874684 CA373800984	262	D>E		No	ClinGen TOPMed gnomAD
CA373800993 rs1370113568	262	D>N		No	ClinGen gnomAD
rs1305604353 CA373800960	265	R>C		No	ClinGen gnomAD
rs746065715 CA5120890	265	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5120888 rs758898066	269	T>I		No	ClinGen ExAC gnomAD
CA373800908 rs1412549508	269	T>S		No	ClinGen TOPMed gnomAD
CA373800902 rs145631389	270	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120886 RCV000597894 rs145631389	270	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA195333780 COSM35450 rs1046023725	271	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1158521 CA373800888 rs763809292	272	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1208561867 CA373800886	272	R>H		No	ClinGen TOPMed gnomAD
CA373800885 rs1208561867	272	R>P		No	ClinGen TOPMed gnomAD
CA5120883 rs763809292	272	R>S		No	ClinGen ExAC gnomAD
CA5120881 COSM1292886 rs752527875	275	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA373800855 rs752527875	275	P>R		No	ClinGen ExAC gnomAD
CA373800858 rs1326165700 COSM753895	275	P>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1286018829 CA373800842	277	I>V		No	ClinGen TOPMed gnomAD
rs1054070751 CA195333719	278	L>V		No	ClinGen Ensembl
rs1392637298 CA373800827	279	M>V		No	ClinGen gnomAD
CA5120876 rs761919281	280	R>Q		No	ClinGen ExAC gnomAD
rs539039649 CA5120877 COSM1581611	280	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs776885966 CA5120875	283	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1408089850 CA373800792	285	K>E		No	ClinGen gnomAD
rs768848657 CA5120874	285	K>R		No	ClinGen ExAC gnomAD
CA5120873 rs747437994	286	C>W		No	ClinGen ExAC gnomAD
rs138087167 CA5120872	288	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120870 rs746313235	290	P>L		No	ClinGen ExAC gnomAD
CA5120868 rs150364724 RCV000595147	291	M>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1008490229 CA195333635	292	P>A		No	ClinGen TOPMed
rs1463019547 CA373800745	292	P>H		No	ClinGen gnomAD
rs1244245729 CA373800739	293	E>A		No	ClinGen gnomAD
CA373800736 rs1445408805	293	E>D		No	ClinGen TOPMed
rs1187980675 CA373800729	294	S>I		No	ClinGen TOPMed
rs753368779 CA5120867	295	P>R		No	ClinGen ExAC gnomAD
CA5120864 rs752552518	297	A>T		No	ClinGen ExAC TOPMed gnomAD
CA195333612 rs977205985	299	N>I		No	ClinGen TOPMed gnomAD
COSM1463548 CA5120863 rs759546998	302	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767372181 CA373800679	302	R>S		No	ClinGen ExAC TOPMed gnomAD
CA373800671 rs1384948320	303	I>T		No	ClinGen gnomAD
rs751490813 CA5120862	303	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1038611579 CA195333562	304	G>D		No	ClinGen TOPMed gnomAD
rs868300851 CA195333535	305	I>T		No	ClinGen Ensembl
rs1184598078 CA373800642	308	E>G		No	ClinGen TOPMed gnomAD
CA5120860 rs761854477	308	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1240902541 CA373800634	309	R>K		No	ClinGen TOPMed
CA5120859 rs776683439	312	R>C		No	ClinGen ExAC TOPMed gnomAD
CA195331577 rs1025106534	314	H>Q		No	ClinGen Ensembl
rs1424605019 CA373800397	314	H>R		No	ClinGen gnomAD
rs756479236 CA195331575	317	Y>C		No	ClinGen TOPMed
CA373800356 rs1399289486	319	G>R		No	ClinGen gnomAD
CA373800357 rs1399289486	319	G>S		No	ClinGen gnomAD
rs746781020 CA5120826	320	S>L		No	ClinGen ExAC gnomAD
CA373800337 rs1376282578	322	M>T		No	ClinGen gnomAD
COSM1224142 rs758358702 CA5120824	327	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756237400 CA373800291	329	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5120821 rs756237400	329	S>R		No	ClinGen ExAC TOPMed gnomAD
rs767700575 CA5120820	332	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120818 rs774599563	335	H>Y		No	ClinGen ExAC gnomAD
CA373800227 rs1324575897	338	Q>R		No	ClinGen gnomAD
rs370013388 CA5120817	339	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208388122 CA373800209	341	A>T		No	ClinGen TOPMed
rs1404430738 CA373800202	342	L>Q		No	ClinGen TOPMed gnomAD
rs773904768 CA5120815	342	L>V		No	ClinGen ExAC gnomAD
CA373800188 rs1587663378	344	H>P		No	ClinGen Ensembl
rs770408058 CA373800180	345	P>H		No	ClinGen ExAC gnomAD
rs770408058 CA5120814	345	P>L		No	ClinGen ExAC gnomAD
CA373800176 rs1470477074	346	H>Y		No	ClinGen gnomAD
CA5120812 rs776138386	347	S>I		No	ClinGen ExAC
CA373800155 rs55983376	349	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000179888 rs569242465 CA247195	352	S>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA373800125 rs1241154810	353	T>I		No	ClinGen gnomAD
rs1208332336 CA373800117	354	D>E		No	ClinGen gnomAD
rs1456230362 CA373800098	357	E>G		No	ClinGen TOPMed
rs1461558641 CA373800102	357	E>Q		No	ClinGen TOPMed gnomAD
rs778881346 CA5120808	359	G>E		No	ClinGen ExAC gnomAD
rs200058508 CA5120807	360	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200058508 CA195331392	360	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA195331398 rs551087221	360	G>R		No	ClinGen 1000Genomes gnomAD
rs200058508 CA5120806	360	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561716677 CA195331367	361	G>E		No	ClinGen 1000Genomes
rs755185431 CA195331344	362	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120802 rs200192277	363	A>T		No	ClinGen ESP ExAC gnomAD
CA5120801 rs766686494	364	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs750808514 CA5120799	366	R>Q		No	ClinGen ExAC gnomAD
RCV000524072 rs151187583 CA5120795	369	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs775265839 CA5120793	373	E>A		No	ClinGen ExAC gnomAD
rs760074825 CA5120794	373	E>K		No	ClinGen ExAC
CA195331267 rs192352426	377	C>F		No	ClinGen 1000Genomes gnomAD
CA373799973 rs192352426	377	C>Y		No	ClinGen 1000Genomes gnomAD
CA5120791 rs745730356	378	F>L		No	ClinGen ExAC gnomAD
CA5120789 rs757973892	379	T>K		No	ClinGen ExAC gnomAD
CA373799957 rs1471365749	379	T>M		No	ClinGen Ensembl
CA373799924 rs1247331053	384	V>I		No	ClinGen TOPMed gnomAD
CA5120784 rs777538346 RCV000263816	385	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5120783 rs755135206	385	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780487522 CA5120781	386	M>I		No	ClinGen ExAC gnomAD
rs147599006 CA5120782	386	M>V		No	ClinGen ESP ExAC gnomAD
CA373799894 rs1207995735	389	C>R		No	ClinGen TOPMed
CA373799879 rs750828736	390	D>E		No	ClinGen ExAC TOPMed gnomAD
rs201970052 CA5120778 COSM1111034	391	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA195331176 rs199817157	392	P>S		No	ClinGen 1000Genomes gnomAD
CA373799873 rs199817157	392	P>T		No	ClinGen 1000Genomes gnomAD
CA5120776 rs754411436	393	S>L		No	ClinGen ExAC gnomAD
rs1308509155 CA373799828	397	R>*		No	ClinGen gnomAD
rs1262889119 CA373799827	397	R>Q		No	ClinGen TOPMed gnomAD
CA373799824 rs1417337506	398	D>N		No	ClinGen TOPMed
CA373799805 rs1222570915	400	S>N		No	ClinGen gnomAD
rs971846658 CA195325834	402	M>K		No	ClinGen Ensembl
CA195325836 rs964673260	402	M>L		No	ClinGen TOPMed
CA195325832 rs866172044	403	G>E		No	ClinGen Ensembl
CA373799785 rs1173346608	403	G>R		No	ClinGen TOPMed
rs1296438599 CA373799764	406	Y>C		No	ClinGen gnomAD
CA10627662 rs1057515681	412	I>V		No	ClinGen Ensembl
CA5120748 rs561348309	413	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120747 rs759014361	413	A>V		No	ClinGen ExAC gnomAD
rs145023692 CA5120746	414	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120745 rs765934325	417	V>I		No	ClinGen ExAC gnomAD
rs374200211 CA195325783	418	I>V		No	ClinGen ESP TOPMed gnomAD
CA373799637 rs762871988	419	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5120743 rs762871988 COSM1463546	419	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373799618 rs1306680925	420	C>W		No	ClinGen TOPMed
rs543117428 CA5120742	421	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA373799605 rs1233904070	422	F>L		No	ClinGen TOPMed
rs769780103 CA5120741	423	F>I		No	ClinGen ExAC
rs1233500827 CA373799584	423	F>L		No	ClinGen TOPMed gnomAD
rs148390451 CA5120739	427	M>V		No	ClinGen ESP ExAC gnomAD
rs745922319 CA5120737	429	R>L		No	ClinGen ExAC gnomAD
rs772321377 CA5120738	429	R>W		No	ClinGen ExAC TOPMed gnomAD
rs144447132 CA5120735	434	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs144447132 CA373799463	434	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144447132 CA5120736 COSM3670072	434	A>T	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs750328974 CA5120733	435	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5120731 rs753164803	438	T>I		No	ClinGen ExAC gnomAD
rs1587657500 CA373799430	438	T>P		No	ClinGen Ensembl
CA5120729 rs140009769	439	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120727 rs766058276	440	Q>*		No	ClinGen ExAC gnomAD
RCV000659116 rs142993413 CA5120725	441	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs762451478 CA5120726	441	R>W		No	ClinGen ExAC TOPMed gnomAD
CA118710 rs267607016	442	R>*		No	ClinGen TOPMed gnomAD
rs371810993 CA195325697	442	R>Q		No	ClinGen Ensembl
CA373799387 rs1485357365	443	Q>*		No	ClinGen TOPMed gnomAD
CA5120723 rs761666918	443	Q>L		No	ClinGen ExAC gnomAD
rs776761901 CA5120722	446	A>V		No	ClinGen ExAC gnomAD
rs794727917 CA247647 RCV000180263	447	S>A		No	ClinGen ClinVar Ensembl dbSNP
rs768704825 CA5120721	447	S>L		No	ClinGen ExAC TOPMed gnomAD
rs759761788 CA5120720	451	D>G		No	ClinGen ExAC gnomAD
CA5120719 rs774232530	452	M>I		No	ClinGen ExAC gnomAD
CA373799313 rs1313126521	452	M>K		No	ClinGen TOPMed gnomAD
rs1313126521 CA373799314	452	M>T		No	ClinGen TOPMed gnomAD
rs1290799129 CA373799304	453	E>D		No	ClinGen gnomAD
rs771198485 CA5120718	454	M>V		No	ClinGen ExAC gnomAD
CA5120717 rs749423150	455	P>R		No	ClinGen ExAC
rs778708632 CA195325648	455	P>S		No	ClinGen gnomAD
CA373799290 rs1335763127	456	L>F		No	ClinGen gnomAD
rs1427072225 CA373799283	457	I>V		No	ClinGen TOPMed gnomAD
CA373799267 rs1386358302	459	Q>*		No	ClinGen gnomAD
rs1303332357 CA373799265	459	Q>R		No	ClinGen TOPMed
rs778232807 CA5120716	460	H>R		No	ClinGen ExAC gnomAD
CA5120715 rs770102780	461	K>Q		No	ClinGen ExAC gnomAD
rs748497597 CA5120714	461	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5120694 rs769169466	463	A>T		No	ClinGen ExAC TOPMed gnomAD
rs370381490 CA5120693	464	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA373799100 rs1471729081	466	K>T		No	ClinGen TOPMed
rs1564230248 RCV000722307 CA373799092	467	E>G		No	ClinGen ClinVar Ensembl dbSNP
CA5120692 rs780576494	467	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120691 rs757893549	468	I>L		No	ClinGen ExAC
RCV000722785 rs1564230209 CA373799037	471	S>F		No	ClinGen ClinVar Ensembl dbSNP
rs778499890 COSM379481 CA5120689	472	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1331743009 CA373798975	474	R>S		No	ClinGen gnomAD
rs763933207 CA5120686	476	M>I		No	ClinGen ExAC gnomAD
CA5120687 rs200274070	476	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120684 rs752618431	482	D>H		No	ClinGen ExAC gnomAD
CA373798823 rs1428165900	483	R>G		No	ClinGen gnomAD
rs1428165900 CA373798822	483	R>W		No	ClinGen gnomAD
rs773275027 CA5120681	486	K>T		No	ClinGen ExAC TOPMed gnomAD
CA5120677 rs777008542	489	K>N		No	ClinGen ExAC gnomAD
rs56197744 VAR_041789 CA5120676	490	G>A		No	ClinGen UniProt ESP ExAC dbSNP gnomAD
CA373798681 rs1261564494	491	H>Y		No	ClinGen gnomAD
rs138310082 CA5120674 COSM3413808	494	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1160467374 CA373798624	495	P>S		No	ClinGen gnomAD
rs772631240 RCV000592155 CA5120673	497	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA195324190 rs1001379533	499	E>G		No	ClinGen TOPMed
CA5120669 rs201405338	499	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142047260 CA5120667	501	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162021948 CA373798423	503	A>G		No	ClinGen TOPMed gnomAD
CA373798430 rs1157518529	503	A>T		No	ClinGen gnomAD
CA5120666 rs767359197	505	A>T		No	ClinGen ExAC gnomAD
rs1473967816 COSM198503 CA373798364	505	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5120665 rs754886878	508	T>A		No	ClinGen ExAC gnomAD
rs148289272 CA5120664 COSM3699765	508	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA373798224 rs1241003695	511	D>E		No	ClinGen gnomAD
rs1368457021 CA373798209	513	A>T		No	ClinGen TOPMed
COSM1264488 CA5120662 rs755892163	513	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1463544 rs775860567 CA5120659	516	P>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5120658 rs775860567 COSM76278	516	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775860567 CA373798168	516	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5120660 rs764284541	516	P>S		No	ClinGen ExAC gnomAD
CA373798155 rs148896640	518	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373544528 CA5120655 COSM1490209	518	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5120654 rs770606467	520	E>D		No	ClinGen ExAC gnomAD
rs1449160701 CA373798115	521	F>L		No	ClinGen gnomAD
RCV000293401 rs201986784 CA5120652	522	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs748786708 CA5120653	522	R>W		No	ClinGen ExAC TOPMed gnomAD
rs546594217 CA373798098	523	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs34584753 CA195324079	525	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120646 rs34584753	525	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751534731 CA5120648	525	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751534731 CA5120647	525	A>T		No	ClinGen ExAC TOPMed gnomAD
CA373798078 rs34584753	525	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373798066 rs1472964319	526	M>I		No	ClinGen gnomAD
CA5120645 rs753913085	526	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5120644 rs753913085	526	M>V		No	ClinGen ExAC TOPMed gnomAD
rs748003101 CA195324052	527	L>M		No	ClinGen ExAC gnomAD
RCV000597656 rs142215888 CA5120642	528	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373798045 rs1221784481	529	A>V		No	ClinGen gnomAD
rs35852786 CA373798043	530	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369080860 COSM1663950 CA5120641	530	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs759789933 CA5120639	532	Q>R		No	ClinGen ExAC gnomAD
rs1428180248 CA373798015	533	H>D		No	ClinGen gnomAD
CA373798013 rs1587654857	533	H>P		No	ClinGen Ensembl
rs762554351 CA5120636	534	P>H		No	ClinGen ExAC TOPMed gnomAD
rs772789770 CA5120635	535	N>S		No	ClinGen ExAC TOPMed gnomAD
CA373797991 rs772789770	535	N>T		No	ClinGen ExAC TOPMed gnomAD
CA5120632 rs145088924	536	V>I		No	ClinGen ESP TOPMed gnomAD
rs768540708 CA5120630	537	V>I		No	ClinGen ExAC TOPMed gnomAD
rs768540708 CA5120629	537	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1564229676 CA373797964	538	C>R		No	ClinGen Ensembl
COSM1463542 rs1167643685 CA373797923	542	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5120627 rs140213020	542	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM20422 rs140213020 CA5120626 VAR_041791	542	V>M	large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1478940666 CA373797912	543	V>A		No	ClinGen gnomAD
CA5120625 rs374811924	544	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374811924 CA373797908	544	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198800632 CA373797895	545	K>R		No	ClinGen gnomAD
CA373797883 COSM1264487 rs1489863862	547	Q>K	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA373797872 rs1564229608	548	P>R		No	ClinGen Ensembl
CA373797875 rs35764413	548	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5120623 rs756321168	549	L>P		No	ClinGen ExAC gnomAD
rs1271293937 CA373797863	550	S>N		No	ClinGen gnomAD
rs767614738 CA5120621	551	M>I		No	ClinGen ExAC
CA5120620 rs200008731	552	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369086816 CA195323829	553	F>L		No	ClinGen ESP
CA5120618 rs767004305	555	Y>C		No	ClinGen ExAC gnomAD
rs545686056 CA5120617	556	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA195323747 rs56099091	557	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373797802 rs117134265	559	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117134265 RCV000732649 CA5120613	559	G>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs148793424 CA195323705	560	D>N		No	ClinGen ESP TOPMed gnomAD
rs1181473303 CA373797789	561	L>F		No	ClinGen Ensembl
CA5120609 rs772019560	563	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5120610 rs186571882 COSM1581609	563	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1049242626 CA195323679	566	V>A		No	ClinGen TOPMed
CA373797756 rs1231630855	566	V>F		No	ClinGen gnomAD
CA5120607 rs552717097	567	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1111029 rs756271109 CA5120606	567	M>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA195323678 rs552717097	567	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372409286 CA5120604	568	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5120603 rs755191901	568	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5120605 rs372409286	568	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5120602 rs533426442	569	S>L		No	ClinGen ExAC gnomAD
COSM241449 CA5120600 rs546802275	570	P>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373797731 rs1448795991	571	H>Y		No	ClinGen gnomAD
CA373797722 rs1468411890	572	S>*		No	ClinGen gnomAD
rs1468411890 CA373797723	572	S>L		No	ClinGen gnomAD
rs140579674 CA5120596	574	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373797696 rs1587654439	575	G>V		No	ClinGen Ensembl
CA5120594 rs775295919	577	T>I		No	ClinGen ExAC gnomAD
CA373797665 rs770772928	578	D>E		No	ClinGen ExAC gnomAD
CA5120590 rs770772928	578	D>E		No	ClinGen ExAC gnomAD
CA5120591 rs774409108	578	D>G		No	ClinGen ExAC gnomAD
CA5120592 rs139802697	578	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150610444 CA10606313 RCV000391310	579	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150610444 RCV000312525 CA5120589	579	D>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747270256 CA5120586	581	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM48758 rs747270256 CA373797637	581	R>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs151303242 CA5120585	581	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373797634 rs151303242	581	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747270256 CA373797639	581	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5120584 rs368499304	582	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs763556461 CA5120579	586	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5120577 rs775176676	587	L>P		No	ClinGen ExAC gnomAD
CA5120575 rs201400446	588	E>D		No	ClinGen 1000Genomes ExAC
CA373797570 rs1420814497	588	E>K		No	ClinGen gnomAD
rs372453275 CA5120576	588	E>V		No	ClinGen ExAC TOPMed gnomAD
rs148271834 CA5120574	589	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373797564 rs148271834	589	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749136832 CA5120572	590	P>L		No	ClinGen ExAC gnomAD
CA5120573 rs770920747	590	P>S		No	ClinGen ExAC gnomAD
rs1587654251 CA373797541	591	D>A		No	ClinGen Ensembl
rs768175141 CA5120570	591	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5120567 rs146067291	593	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120566 rs146067291	593	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1587654235 CA373797507	594	H>P		No	ClinGen Ensembl
rs920706995 CA195323412	595	L>I		No	ClinGen Ensembl
CA373797492 rs1587654220	595	L>P		No	ClinGen Ensembl
CA5120565 rs746254991	596	V>M		No	ClinGen ExAC gnomAD
rs779100736 CA5120564	598	Q>R		No	ClinGen ExAC
rs778231500 CA5120561	600	A>T		No	ClinGen ExAC TOPMed gnomAD
rs143738026 CA5120560	600	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120557 rs759056122	601	A>T		No	ClinGen ExAC gnomAD
rs751398670 CA5120556	601	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1015455693 CA195323331	603	M>V		No	ClinGen gnomAD
CA373797409 rs1164229914	604	E>G		No	ClinGen TOPMed
rs1162211975 CA373797400	605	Y>C		No	ClinGen gnomAD
rs1587654123 CA373797402	605	Y>D		No	ClinGen Ensembl
CA373797401 rs1162211975	605	Y>S		No	ClinGen gnomAD
CA373797393 rs1355134782	606	L>P		No	ClinGen TOPMed
rs1587654088 CA373797390	607	S>P		No	ClinGen Ensembl
rs760840603 CA5120551	608	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1420973749 CA373797369	610	H>Y		No	ClinGen gnomAD
CA373797363 rs374748836	611	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120549 rs374748836	611	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120548 rs148644518	612	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA195323287 rs1001896010	614	K>R		No	ClinGen Ensembl
rs1207983824 CA373797302	618	T>I		No	ClinGen gnomAD
CA373797299 rs1489361512	619	R>C		No	ClinGen gnomAD
CA5120547 rs779165681	619	R>H		No	ClinGen ExAC gnomAD
rs779165681 CA373797288	619	R>L		No	ClinGen ExAC gnomAD
CA5120546 rs771249364	620	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV000658037 CA5120543 rs756550177	623	V>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1322191775 CA373797229	624	Y>C		No	ClinGen gnomAD
rs372404679 CA195323246	625	D>E		No	ClinGen ESP TOPMed
CA5120540 rs754476697	625	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5120539 rs751215269	626	K>N		No	ClinGen ExAC gnomAD
rs1379764303 CA373797198	627	L>Q		No	ClinGen gnomAD
rs148844963 CA5120537 RCV000399951	629	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1052671644 CA195323189	630	K>Q		No	ClinGen Ensembl
CA373797161 rs1587653898	631	I>V		No	ClinGen Ensembl
rs1477900208 CA373797149	632	S>*		No	ClinGen gnomAD
CA373797152 rs1358210628	632	S>T		No	ClinGen gnomAD
CA373797098 rs1420317296	637	F>L		No	ClinGen TOPMed
CA5120536 rs750174836	638	R>*		No	ClinGen ExAC gnomAD
CA5120535 rs765278167	638	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120533 rs775744985	640	V>A		No	ClinGen ExAC gnomAD
rs761791616 CA5120534	640	V>L		No	ClinGen ExAC gnomAD
CA5120532 rs772085485	642	A>V		No	ClinGen ExAC gnomAD
rs771184180 CA5120529	643	A>P		No	ClinGen ExAC TOPMed gnomAD
rs771184180 CA5120530	643	A>T		No	ClinGen ExAC TOPMed gnomAD
VAR_041794 RCV002070131 CA5120527 RCV001310263 rs55798732	644	D>N		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA373796964 rs1357736730	645	Y>D		No	ClinGen TOPMed
CA373796931 rs1332186381	646	Y>*		No	ClinGen gnomAD
rs369059394 RCV000727912 CA5120526	647	K>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA373796855 rs1587653764	651	N>T		No	ClinGen Ensembl
rs541919750 CA5120523	652	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs757089877 CA5120518	655	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5120519 rs765086127	655	P>S		No	ClinGen ExAC gnomAD
CA373796794 rs1239750233 RCV000731077	656	I>V		No	ClinGen ClinVar dbSNP gnomAD
rs753875871 COSM1111027 CA5120517	657	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5120513 rs763115397	665	M>I		No	ClinGen ExAC gnomAD
rs763115397 CA5120514	665	M>I		No	ClinGen ExAC gnomAD
CA5120516 rs759604722	665	M>T		No	ClinGen ExAC TOPMed gnomAD
CA373796641 rs1276685311	665	M>V		No	ClinGen TOPMed gnomAD
rs1463489541 CA373796623	666	Y>C		No	ClinGen TOPMed
rs1379633425 CA373796606	667	G>D		No	ClinGen gnomAD
CA5120511 rs770190188 COSM1165432	667	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA195323040 rs540013307	668	K>N		No	ClinGen Ensembl
CA5120510 rs748495379 COSM1173525	668	K>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs200159827 CA5120509	669	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769139384 CA5120508	670	S>P		No	ClinGen ExAC gnomAD
rs55651110 CA5120507	672	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_041795 COSM176568 rs55651110 CA5120506 RCV001310270	672	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA373796540 rs55651110	672	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA373796427 rs199681534	678	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA373796430 rs1417812687	678	Y>C		No	ClinGen gnomAD
CA373796423 rs1433498990	679	G>S		No	ClinGen TOPMed
CA195322979 rs866293381	683	W>*		No	ClinGen Ensembl
rs1472311000 CA373796366	684	E>A		No	ClinGen gnomAD
rs1189871991 CA373796343	685	V>I		No	ClinGen gnomAD
CA373796330 rs1443116034	686	F>L		No	ClinGen TOPMed gnomAD
rs191107364 CA5120500	686	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120501 rs191107364	686	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120499 rs199506849	688	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
rs199506849 CA195322938	688	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs766445029 CA5120497	689	G>S		No	ClinGen ExAC gnomAD
CA373796259 rs1354684109	691	Q>*		No	ClinGen gnomAD
rs1282114933 CA373796236	692	P>L		No	ClinGen gnomAD
rs200580960 CA195322879	693	Y>F		No	ClinGen Ensembl
CA373796188 rs1397517421	695	G>E		No	ClinGen gnomAD
rs1298715739 CA373796173	696	Y>H		No	ClinGen gnomAD
rs761203829 CA5120493	697	S>P		No	ClinGen ExAC gnomAD
CA5120491 rs771759219	700	D>G		No	ClinGen ExAC gnomAD
CA5120492 rs775830543	700	D>H		No	ClinGen ExAC TOPMed gnomAD
CA373796095 rs775830543	700	D>N		No	ClinGen ExAC TOPMed gnomAD
CA373796081 rs771759219	700	D>V		No	ClinGen ExAC gnomAD
CA5120489 rs200805854	703	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749054125 CA5120487	704	M>I		No	ClinGen ExAC gnomAD
rs770645104 CA5120488	704	M>V		No	ClinGen ExAC TOPMed gnomAD
RCV001310264 rs369717474 CA5120485 COSM1187759	706	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs777577615 CA5120486	706	R>W		No	ClinGen ExAC TOPMed gnomAD
CA373795995 rs1587653334	707	N>T		No	ClinGen Ensembl
CA5120483 rs747920419	708	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120484 rs752726859	708	R>W		No	ClinGen ExAC gnomAD
rs750431815 CA5120482	710	V>A		No	ClinGen ExAC TOPMed gnomAD
rs750431815 CA5120481	710	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5120480 COSM1196259 rs374945194	712	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5120479 rs761974165	713	C>Y		No	ClinGen ExAC gnomAD
rs1348000052 CA373795824	715	D>G		No	ClinGen gnomAD
CA373795831 rs201994918	715	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201994918 CA5120476	715	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120475 rs776124355	717	C>S		No	ClinGen ExAC gnomAD
CA10604225 rs886042428	718	P>A		No	ClinGen Ensembl
rs886042428 RCV000395342	718	P>AALPR*		No	ClinVar dbSNP
rs759122430 CA5120473	718	P>S		No	ClinGen ExAC TOPMed gnomAD
rs375448033 CA5120472	719	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375448033 RCV000363220 COSM314875 CA5120471	719	A>T	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1190641224 CA373795740	720	W>G		No	ClinGen gnomAD
rs970278104 CA195322706	721	V>G		No	ClinGen Ensembl
rs1477344784 CA373795719	721	V>M		No	ClinGen gnomAD
CA195322666 rs921920483	722	Y>C		No	ClinGen TOPMed
CA195322658 rs1037731562	725	M>T		No	ClinGen Ensembl
CA5120468 rs747888518	726	I>V		No	ClinGen ExAC TOPMed gnomAD
CA195322623 rs754848712	727	E>*		No	ClinGen ExAC TOPMed gnomAD
rs754848712 CA5120466	727	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754848712 CA5120467	727	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5120465 rs372509332	730	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs757252249 CA5120463	731	E>K		No	ClinGen ExAC TOPMed gnomAD
rs909481496 CA195322575	732	F>S		No	ClinGen Ensembl
CA373795456 rs1587653117	734	S>G		No	ClinGen Ensembl
CA5120459 rs552714728	735	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM43031 CA5120458 rs552714728	735	R>Q	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5120460 rs761169064 COSM1463539	735	R>W	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs980417569 CA195322567	736	R>Q		No	ClinGen TOPMed gnomAD
CA373795440 rs1329621652	736	R>W		No	ClinGen TOPMed gnomAD
rs760076090 CA5120457	737	P>L		No	ClinGen ExAC gnomAD
CA5120456 rs56231927	738	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120454 COSM3670071 rs762353305	738	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373795419 rs56231927	738	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769260259 CA5120452	739	F>L		No	ClinGen ExAC TOPMed gnomAD
rs767802430 CA5120453	739	F>L		No	ClinGen ExAC gnomAD
rs776360353 CA5120450	741	D>Y		No	ClinGen ExAC gnomAD
CA373795215 rs1587653020	742	I>T		No	ClinGen Ensembl
CA5120447 rs779943179	743	H>R		No	ClinGen ExAC gnomAD
CA5120448 rs570709788	743	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA5120446 rs757417316	744	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5120444 rs778062920	745	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749323904 CA5120445	745	R>W		No	ClinGen ExAC gnomAD
rs1836916811 RCV001310269	746	L>F		No	ClinVar dbSNP
RCV000659115 CA5120441 rs201155263	747	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1581607 rs552528721 CA5120439	750	G>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs552528721 CA5120440	750	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120438 rs73504470	751	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1445999236 CA373795086	751	N>S		No	ClinGen TOPMed gnomAD
CA5120437 rs762524191	752	L>P		No	ClinGen ExAC TOPMed gnomAD
RCV001008721 rs1587652899 CA915947030	755	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs764962325 CA5120435	756	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5120434 rs761331094	757	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5120433 rs776233029	758	S>L		No	ClinGen ExAC TOPMed gnomAD
CA373794968 rs1587652877	758	S>P		No	ClinGen Ensembl
CA373794954 rs1180917030	759	A>V		No	ClinGen gnomAD
rs1587652843 CA373794926	761	T>P		No	ClinGen Ensembl
VAR_041798 rs34491822 CA173326	762	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5120427 rs756392196	764	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5120425 rs781546492	767	T>N		No	ClinGen ExAC gnomAD
rs138178486 CA5120423	768	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373794777 rs1564227654	770	T>I		No	ClinGen Ensembl
CA373794688 rs1420760655	778	V>A		No	ClinGen gnomAD
CA373794668 rs1368222647	780	N>D		No	ClinGen gnomAD
rs1564227603 CA373794662	780	N>S		No	ClinGen Ensembl
rs749978985 CA5120420	781	V>M		No	ClinGen ExAC gnomAD
CA5120419 rs764692122	783	N>S		No	ClinGen ExAC TOPMed gnomAD
rs753545735 CA5120417	784	A>T		No	ClinGen ExAC TOPMed gnomAD
rs547359309 CA5120416	785	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs368059807 CA5120415	785	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1555639 CA5120414 rs775209555	786	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA373794594 rs1219060338	787	V>M		No	ClinGen gnomAD
rs983485063 CA195322235	789	P>S		No	ClinGen TOPMed
CA373794560 rs1218151089	790	K>M		No	ClinGen gnomAD
rs1037636706 CA195322227	792	K>E		No	ClinGen Ensembl
COSM131812 CA195322217 rs267602312	793	A>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs774317100 CA5120411	793	A>V		No	ClinGen ExAC gnomAD
rs374141378 CA5120410	794	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA195322193 rs939178685	795	P>L		No	ClinGen Ensembl
rs146987488 CA5120407	796	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373794467 rs970306168	797	P>L		No	ClinGen TOPMed gnomAD
rs970306168 CA195322184	797	P>Q		No	ClinGen TOPMed gnomAD
CA373794457 rs1477234699	798	Q>R		No	ClinGen gnomAD
CA373794441 rs1195148243	799	P>L		No	ClinGen gnomAD
rs1379167494 CA373794432	800	Q>H		No	ClinGen TOPMed
rs758757733 CA5120405	800	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs750939153 CA5120404	801	F>C		No	ClinGen ExAC
rs1198211798 CA373794376	804	M>I		No	ClinGen gnomAD
CA5120401 rs753279278	804	M>T		No	ClinGen ExAC TOPMed gnomAD
rs756827949 CA5120402	804	M>V		No	ClinGen ExAC gnomAD
CA373794346 rs947970454	807	Q>H		No	ClinGen gnomAD
rs1031370230 CA195322140	807	Q>R		No	ClinGen TOPMed
rs1587652534 CA373794323	809	R>S		No	ClinGen Ensembl
rs1331048394 CA373794320	810	P>S		No	ClinGen TOPMed gnomAD
rs1331048394 CA373794318	810	P>T		No	ClinGen TOPMed gnomAD
rs560157548 CA5120399	811	M>V		No	ClinGen ExAC gnomAD
CA5120397 rs767258825	814	P>L		No	ClinGen ExAC gnomAD
rs770921333 CA5120394	815	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1172192855 CA373794275	816	Q>K		No	ClinGen TOPMed gnomAD
CA373794257 rs1377058955	818	Y>F		No	ClinGen gnomAD
CA373794247 rs1253369894	820	P>S		No	ClinGen TOPMed gnomAD
rs149056068 RCV000597971 CA5120389	821	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5120388 rs146432734	822	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373794234 rs1240198005	822	N>S		No	ClinGen TOPMed gnomAD
rs753371692 CA5120386	823	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5120385 rs753371692	823	G>S		No	ClinGen ExAC TOPMed gnomAD
rs777227251 CA5120384	823	G>V		No	ClinGen ExAC
CA5120382 rs752344305	824	Y>*		No	ClinGen ExAC gnomAD
rs755593346 CA373794224	824	Y>C		No	ClinGen ExAC gnomAD
CA373794227 rs1236045040	824	Y>N		No	ClinGen gnomAD
rs755593346 CA5120383	824	Y>S		No	ClinGen ExAC gnomAD
rs767190671 CA5120381	825	Q>H		No	ClinGen ExAC gnomAD
rs930640242 CA195321985	825	Q>R		No	ClinGen TOPMed
rs1016479276 CA195321932	826	P>L		No	ClinGen TOPMed gnomAD
rs1016479276 CA373794213	826	P>Q		No	ClinGen TOPMed gnomAD
CA5120380 rs751306692	826	P>S		No	ClinGen ExAC
CA5120379 rs751306692	826	P>T		No	ClinGen ExAC
rs773250333 CA5120376	827	V>G		No	ClinGen ExAC gnomAD
rs1391531897 CA373794203	827	V>L		No	ClinGen gnomAD
CA373794187 rs1436526632	828	P>L		No	ClinGen gnomAD
CA5120374 rs760794107	829	A>T		No	ClinGen ExAC gnomAD
rs1437576588 CA373794178	829	A>V		No	ClinGen gnomAD
rs775640546 CA5120373 RCV000296968	830	Y>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA373794109 rs1316840459	835	P>L		No	ClinGen TOPMed
rs772269687 CA5120372	836	N>S		No	ClinGen ExAC gnomAD
CA373794087 rs1486285987	837	F>L		No	ClinGen gnomAD
rs992732083 CA195321817	837	F>V		No	ClinGen TOPMed gnomAD
rs1266673307 CA373794067	839	P>Q		No	ClinGen TOPMed
CA5120370 rs534997285	840	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs771461100 CA5120369	841	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA195321775 rs1002990573	843	P>A		No	ClinGen Ensembl
rs778233521 CA5120367	844	M>I		No	ClinGen ExAC gnomAD
rs749837764 CA5120368	844	M>T		No	ClinGen ExAC gnomAD
CA373793993 rs1252283368	844	M>V		No	ClinGen TOPMed
rs755683185 CA5120366	846	M>I		No	ClinGen ExAC gnomAD
rs747693128 CA5120365	847	A>V		No	ClinGen ExAC gnomAD
rs202072718 CA5120364	848	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373793916 rs1564227041	848	P>S		No	ClinGen Ensembl
CA373793857 rs1424299048	850	Q>H		No	ClinGen TOPMed
rs751339713 CA5120362	850	Q>K		No	ClinGen ExAC gnomAD
rs1411243993 CA373793861	850	Q>R		No	ClinGen TOPMed
CA373793815 rs1366867361	852	P>L		No	ClinGen TOPMed gnomAD
CA5120361 rs375769750	853	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA373793811 rs1475566700	853	P>S		No	ClinGen gnomAD
rs140727324 CA195321723	855	M>I		No	ClinGen ESP gnomAD
rs1044883600 CA195321730	855	M>L		No	ClinGen Ensembl
CA5120359 rs758244691	856	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5120358 rs750442188	857	P>S		No	ClinGen ExAC gnomAD
rs1564226947 CA373793661 RCV000734005	861	S>L		No	ClinGen ClinVar Ensembl dbSNP
CA373793647 rs1277548600	862	H>L		No	ClinGen gnomAD
CA373793649 rs1277548600	862	H>R		No	ClinGen gnomAD
rs765260046 CA5120357	862	H>Y		No	ClinGen ExAC gnomAD
CA373793605 rs1286814998	864	S>I		No	ClinGen TOPMed
CA195321699 rs577141662	864	S>R		No	ClinGen 1000Genomes
rs775582564 CA5120355	865	G>A		No	ClinGen ExAC gnomAD
CA373793581 rs1564226908	866	S>N		No	ClinGen Ensembl
rs1404483820 CA373793546	868	S>F		No	ClinGen gnomAD
CA5120353 rs759765174	869	T>P		No	ClinGen ExAC gnomAD
rs774526992 CA5120352	870	S>G		No	ClinGen ExAC TOPMed gnomAD
CA373793465 rs1319335985	873	Y>C		No	ClinGen TOPMed
rs773779501 CA5120349	873	Y>H		No	ClinGen ExAC gnomAD
rs200867550 CA373793456	874	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5120347 rs200867550 RCV000891267	874	V>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5120346 rs780709405	876	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200970033 CA195321579	878	P>H		No	ClinGen TOPMed gnomAD
rs1216182857 CA373793402	879	S>A		No	ClinGen TOPMed gnomAD
CA5120344 rs200296562	882	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373037095 CA5120342	883	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779837210 CA5120343	883	M>T		No	ClinGen ExAC gnomAD
CA373793373 rs1329102917	884	A>T		No	ClinGen gnomAD
rs1328230282 CA373793368	884	A>V		No	ClinGen gnomAD
CA5120340 rs369727413	886	R>W		No	ClinGen ESP ExAC gnomAD
CA373793353 rs1399781510	887	A>T		No	ClinGen gnomAD
rs757170131 CA5120339	890	L>F		No	ClinGen ExAC gnomAD
rs752753103 CA5120338	893	G>R		No	ClinGen ExAC TOPMed gnomAD
CA373793317 rs752753103	893	G>S		No	ClinGen ExAC TOPMed gnomAD
CA373793312 rs1172474692	894	A>T		No	ClinGen gnomAD
rs1458521682 CA373793301	895	D>E		No	ClinGen gnomAD
CA373793292 rs1194617145	896	D>E		No	ClinGen gnomAD
CA5120334 rs766587026	898	Q>E		No	ClinGen ExAC gnomAD
rs141070315 CA373793280	898	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141070315 CA5120333	898	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5120331 rs202213533	900	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5120330 rs202213533	900	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373793268 rs1273674096	900	A>V		No	ClinGen TOPMed gnomAD
rs768268681 CA5120328	901	P>L		No	ClinGen ExAC gnomAD
CA5120329 rs776978802	901	P>S		No	ClinGen ExAC gnomAD
rs1305393719 CA373793251	903	D>G		No	ClinGen TOPMed gnomAD
CA373793250 rs1305393719	903	D>V		No	ClinGen TOPMed gnomAD
CA5120327 rs367647446	904	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs779855786 CA5120326	905	A>P		No	ClinGen ExAC gnomAD
CA5120325 rs771792088	906	Q>R		No	ClinGen ExAC gnomAD
rs1413303019 CA373793213	909	V>E		No	ClinGen gnomAD
rs778811682 CA373793216	909	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778811682 CA5120323 COSM1132437	909	V>M	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1174674909 CA373793209	910	Q>*		No	ClinGen gnomAD
rs1439454538 CA373793203	911	E>K		No	ClinGen gnomAD
CA373793195 rs1379369275	912	A>T		No	ClinGen gnomAD
rs1175081388 CA373793185	913	E>A		No	ClinGen gnomAD
rs1176141936 CA373793188	913	E>Q		No	ClinGen Ensembl
CA373793181 rs1232973771	914	E>K		No	ClinGen gnomAD
rs1057029126 CA195321403	916	E>A		No	ClinGen TOPMed gnomAD
CA5120320 rs753864565	917	E>Q		No	ClinGen ExAC gnomAD
CA5120317 rs777560660	919	S>C		No	ClinGen ExAC gnomAD
rs1225706803 CA373793129	921	P>L		No	ClinGen gnomAD
CA373793134 rs1307409375	921	P>T		No	ClinGen gnomAD
rs1374283163 COSM1111026 CA373793122	922	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751576095 CA5120315	923	T>I		No	ClinGen ExAC gnomAD
CA5120314 rs766605383	924	E>Q		No	ClinGen ExAC gnomAD
CA373793107 rs1377860827	925	L>V		No	ClinGen gnomAD
rs1314015078 CA373793101	926	L>Q		No	ClinGen gnomAD
CA373793095 rs1419520071	927	G>V		No	ClinGen gnomAD
rs199855010 CA5120313	928	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750609013 CA5120312	929	C>R		No	ClinGen ExAC gnomAD
rs371866105 CA5120311	929	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373793074 rs1180786358	930	D>V		No	ClinGen gnomAD
CA5120310 rs200752982	931	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA373793071 rs200752982	931	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA195321357 rs968394913	932	L>P		No	ClinGen TOPMed gnomAD
rs920956962 CA195321353	933	Q>R		No	ClinGen TOPMed gnomAD
rs777259749 CA5120308	934	V>L		No	ClinGen ExAC TOPMed gnomAD
rs41277835 CA5120307	935	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1404634497 CA373793046	935	D>G		No	ClinGen gnomAD
rs1317760680 CA373793050	935	D>N		No	ClinGen gnomAD
CA5120305 rs771882038	936	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778409919 CA5120303	937	A>P		No	ClinGen ExAC gnomAD
rs778409919 CA5120304	937	A>T		No	ClinGen ExAC gnomAD
rs965137025 CA195321280	937	A>V		No	ClinGen TOPMed
CA195321276 rs1012078133	938	Q>K		No	ClinGen Ensembl
rs113793278 CA195321268	940	Q>H		No	ClinGen Ensembl
CA5120301 rs199840505	943	A>D		No	ClinGen ESP ExAC gnomAD
rs199840505 CA5120302	943	A>G		No	ClinGen ESP ExAC gnomAD

2 associated diseases with Q01974

[MIM: 113000]: Brachydactyly B1 (BDB1)

A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 268310]: Robinow syndrome, autosomal recessive 1 (RRS1)

A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. {ECO:0000269|PubMed:10932186, ECO:0000269|PubMed:10932187}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. Note=The disease is caused by variants affecting the gene represented in this entry.
A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. {ECO:0000269|PubMed:10932186, ECO:0000269|PubMed:10932187}. Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for Q01974

Type	Name	Position	InterPro Accession
domain	Kringle	314 - 396	IPR000001
domain	Protein kinase domain	473 - 746	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	474 - 746	IPR001245
domain	Immunoglobulin subtype 2	74 - 142	IPR003598
domain	Immunoglobulin subtype	68 - 153	IPR003599
domain	Immunoglobulin-like domain	55 - 145	IPR007110
active_site	Tyrosine-protein kinase, active site	611 - 623	IPR008266
domain	Immunoglobulin I-set	64 - 150	IPR013098
conserved_site	Kringle, conserved site	364 - 377	IPR018056
domain	Frizzled domain	169 - 303	IPR020067

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF132	TYROSINE-PROTEIN KINASE TRANSMEMBRANE RECEPTOR ROR2
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway	Any coreceptor activity that is involved in Wnt signaling pathway, planar cell polarity pathway.
frizzled binding	Binding to a frizzled (fz) receptor.
metal ion binding	Binding to a metal ion.
mitogen-activated protein kinase kinase kinase binding	Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.
Wnt-protein binding	Binding to a Wnt-protein, a secreted growth factor involved in signaling.

31 GO annotations of biological process

Name	Definition
astrocyte development	The process aimed at the progression of an astrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
bone mineralization	The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue.
cartilage condensation	The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
embryonic genitalia morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the genitalia are generated and organized.
inner ear morphogenesis	The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
macrophage migration	The orderly movement of a macrophage from one site to another.
male genitalia development	The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure.
multicellular organism development	The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of macrophage differentiation	Any process that activates or increases the frequency, rate or extent of macrophage differentiation.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein kinase C activity	Any process that activates or increases the frequency, rate or extent of protein kinase C activity.
positive regulation of synaptic transmission, glutamatergic	Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
SMAD protein signal transduction	The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.
somitogenesis	The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
Wnt signaling pathway, calcium modulating pathway	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors leads to an increase in intracellular calcium and activation of protein kinase C (PKC).

79 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q91044	NTRK3	NT-3 growth factor receptor	Gallus gallus (Chicken)	SS
Q91987	NTRK2	BDNF/NT-3 growth factors receptor	Gallus gallus (Chicken)	SS
Q91009	NTRK1	High affinity nerve growth factor receptor	Gallus gallus (Chicken)	SS
Q8AXY6	MUSK	Muscle, skeletal receptor tyrosine protein kinase	Gallus gallus (Chicken)	SS
Q5IS37	NTRK3	NT-3 growth factor receptor	Pan troglodytes (Chimpanzee)	SS
Q24488	Ror	Tyrosine-protein kinase transmembrane receptor Ror	Drosophila melanogaster (Fruit fly)	SS
Q9V6K3	Nrk	Tyrosine-protein kinase transmembrane receptor Ror2	Drosophila melanogaster (Fruit fly)	SS
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P15209	Ntrk2	BDNF/NT-3 growth factors receptor	Mus musculus (Mouse)	SS
Q61006	Musk	Muscle, skeletal receptor tyrosine-protein kinase	Mus musculus (Mouse)	SS
Q6VNS1	Ntrk3	NT-3 growth factor receptor	Mus musculus (Mouse)	SS
Q3UFB7	Ntrk1	High affinity nerve growth factor receptor	Mus musculus (Mouse)	SS
Q9Z138	Ror2	Tyrosine-protein kinase transmembrane receptor ROR2	Mus musculus (Mouse)	SS
Q9Z139	Ror1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Mus musculus (Mouse)	PR
P24786	NTRK3	NT-3 growth factor receptor	Sus scrofa (Pig)	SS
Q62838	Musk	Muscle, skeletal receptor tyrosine protein kinase	Rattus norvegicus (Rat)	SS
P35739	Ntrk1	High affinity nerve growth factor receptor	Rattus norvegicus (Rat)	SS
Q03351	Ntrk3	NT-3 growth factor receptor	Rattus norvegicus (Rat)	SS
Q63604	Ntrk2	BDNF/NT-3 growth factors receptor	Rattus norvegicus (Rat)	SS
G5EGK5	cam-1	Tyrosine-protein kinase receptor cam-1	Caenorhabditis elegans	SS
Q9SXB5	At1g11303	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LPZ9	SD113	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13	Arabidopsis thaliana (Mouse-ear cress)	SS
O64783	At1g61370	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370	Arabidopsis thaliana (Mouse-ear cress)	SS
O64770	At1g61490	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SYA0	At1g61500	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500	Arabidopsis thaliana (Mouse-ear cress)	SS
O81833	SD11	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FNE1	CRK42	Cysteine-rich receptor-like protein kinase 42	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SXB4	At1g11300	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300	Arabidopsis thaliana (Mouse-ear cress)	PR
O64778	At1g61420	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420	Arabidopsis thaliana (Mouse-ear cress)	SS
O64776	At1g61440	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440	Arabidopsis thaliana (Mouse-ear cress)	SS
O64780	At1g61400	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SY95	At1g61550	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550	Arabidopsis thaliana (Mouse-ear cress)	SS
O64782	SD129	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29	Arabidopsis thaliana (Mouse-ear cress)	SS
O64774	At1g61460	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460	Arabidopsis thaliana (Mouse-ear cress)	PR
O64477	At2g19130	G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SXB8	At1g11330	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11330	Arabidopsis thaliana (Mouse-ear cress)	PR
O64793	At1g67520	G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520	Arabidopsis thaliana (Mouse-ear cress)	PR
O64784	At1g61360	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360	Arabidopsis thaliana (Mouse-ear cress)	SS
Q39203	SD22	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MARGSALPRR	PLLCIPAVWA	AAALLLSVSR	TSGEVEVLDP	NDPLGPLDGQ	DGPIPTLKGY
70	80	90	100	110	120
FLNFLEPVNN	ITIVQGQTAI	LHCKVAGNPP	PNVRWLKNDA	PVVQEPRRII	IRKTEYGSRL
130	140	150	160	170	180
RIQDLDTTDT	GYYQCVATNG	MKTITATGVL	FVRLGPTHSP	NHNFQDDYHE	DGFCQPYRGI
190	200	210	220	230	240
ACARFIGNRT	IYVDSLQMQG	EIENRITAAF	TMIGTSTHLS	DQCSQFAIPS	FCHFVFPLCD
250	260	270	280	290	300
ARSRTPKPRE	LCRDECEVLE	SDLCRQEYTI	ARSNPLILMR	LQLPKCEALP	MPESPDAANC
310	320	330	340	350	360
MRIGIPAERL	GRYHQCYNGS	GMDYRGTAST	TKSGHQCQPW	ALQHPHSHHL	SSTDFPELGG
370	380	390	400	410	420
GHAYCRNPGG	QMEGPWCFTQ	NKNVRMELCD	VPSCSPRDSS	KMGILYILVP	SIAIPLVIAC
430	440	450	460	470	480
LFFLVCMCRN	KQKASASTPQ	RRQLMASPSQ	DMEMPLINQH	KQAKLKEISL	SAVRFMEELG
490	500	510	520	530	540
EDRFGKVYKG	HLFGPAPGEQ	TQAVAIKTLK	DKAEGPLREE	FRHEAMLRAR	LQHPNVVCLL
550	560	570	580	590	600
GVVTKDQPLS	MIFSYCSHGD	LHEFLVMRSP	HSDVGSTDDD	RTVKSALEPP	DFVHLVAQIA
610	620	630	640	650	660
AGMEYLSSHH	VVHKDLATRN	VLVYDKLNVK	ISDLGLFREV	YAADYYKLLG	NSLLPIRWMA
670	680	690	700	710	720
PEAIMYGKFS	IDSDIWSYGV	VLWEVFSYGL	QPYCGYSNQD	VVEMIRNRQV	LPCPDDCPAW
730	740	750	760	770	780
VYALMIECWN	EFPSRRPRFK	DIHSRLRAWG	NLSNYNSSAQ	TSGASNTTQT	SSLSTSPVSN
790	800	810	820	830	840
VSNARYVGPK	QKAPPFPQPQ	FIPMKGQIRP	MVPPPQLYVP	VNGYQPVPAY	GAYLPNFYPV
850	860	870	880	890	900
QIPMQMAPQQ	VPPQMVPKPS	SHHSGSGSTS	TGYVTTAPSN	TSMADRAALL	SEGADDTQNA
910	920	930	940
PEDGAQSTVQ	EAEEEEEGSV	PETELLGDCD	TLQVDEAQVQ	LEA