AiPD: Autoinhibited Protein Database

P22607

Gene name	FGFR3 (JTK4)
Protein name	Fibroblast growth factor receptor 3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2261
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Fibroblast growth factor receptor 3 (FGFR3) is one of the members of FGFR family belonging to the receptor tyrosine kinases (RTK) in cell proliferation, differentiation, migration, and maintenance of cellular homeostasis. FGFR3 consists of the ligand-binding region (immunoglobulin (Ig) domain 1-like domains) designated D1, D2, and D3, and a kinase domain. The D1 domain and the acid box (AB)-containing linker between D1 and D2 are involved in autoinhibition. Loss of D1 or the linker enhances the affinity of FGFR for FGF and HS and increases the signaling capacity of FGFR. Specifically, the AB region blocks the heparan sulfate (HS)-binding site on the D2 domain in cis to suppress HS-binding affinity of EGFR. D1 is dispensable for autoinhibition but plays a minor role in autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	149-246 (D2 domain)
Relief mechanism	Others
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

127-149 (AB/linker region)

Target domain

149-246 (D2 domain)

Relief mechanism

Others (Substitution of the acidic residues in AB subregion with alanines without changing the length of AB/linker)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Target domain	143-365 (D2-D3 domains)
Relief mechanism	Ligand binding
Assay	Structural analysis

AID

33-145 (D1 and D1-D2 linker)

Target domain

143-365 (D2-D3 domains)

Relief mechanism

Ligand binding (FGF1 binding)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Kalinina J et al. (2012) "The alternatively spliced acid box region plays a key role in FGF receptor autoinhibition", Structure (London, England : 1993), 20, 77-88

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

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Olsen SK et al. (2004) "Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity", Proceedings of the National Academy of Sciences of the United States of America, 101, 935-40

Autoinhibited structure

Activated structure

11 structures for P22607

Entry ID	Method	Resolution	Chain	Position	Source
1RY7	X-ray	320 A	B	33-365	PDB
2LZL	NMR	-	A/B	357-399	PDB
4K33	X-ray	234 A	A	449-759	PDB
6LVM	X-ray	253 A	A	472-759	PDB
6PNX	X-ray	220 A	A/B	451-759	PDB
7DHL	X-ray	257 A	A	472-759	PDB
7YSU	EM	320 A	C/E	148-358	PDB
8UDT	X-ray	283 A	A/B/C	454-756	PDB
8UDU	X-ray	174 A	A/B	454-756	PDB
8UDV	X-ray	235 A	A/B/C	454-756	PDB
AF-P22607-F1	Predicted				AlphaFoldDB

805 variants for P22607

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001548391 CA2809729 RCV000889248 rs140087676	52	G>S	Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371729802 RCV001256110 CA2809738	63	P>L	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001257458 rs369232922	67	G>A	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000658073 RCV000765768 CA2809746 rs369232922	67	G>D	Achondroplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs529408918 RCV000987392 RCV001572765 CA2809862	172	V>I	Hypochondroplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001252959 rs1031160906 CA91249159	173	R>C	Muenke syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000688295 rs1441656357 CA355975010	173	R>H	Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000313050 CA10605728 rs886043613 RCV000626771	200	R>C	Skeletal dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000415492 rs565612580 CA2809935	247	E>K	Crouzon syndrome-acanthosis nigricans syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA126378 COSM1133721 rs121913482 COSM714 VAR_004148	248	R>C	lung KERSEB, BLC, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation upper_aerodigestive_tract urinary_tract skin haematopoietic_and_lymphoid_tissue [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
CA126380 COSM1149892 rs121913483 COSM715 VAR_004149	249	S>C	lung cervix upper_aerodigestive_tract urinary_tract skin KERSEB, BLC, cervical cancer and TD1 [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
VAR_004150 rs4647924 RCV000017747 RCV000193831 RCV000436385 RCV000626772 RCV000763120 CA159700 RCV000121075 RCV000017746 RCV000622712	250	P>R	Achondroplasia Saethre-Chotzen syndrome Muenke syndrome (mnkes) Muenke syndrome MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis Achondroplasia (ach) Craniosynostosis syndrome Inborn genetic diseases Saethre-chotzen syndrome (scs) Crouzon syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000017768 RCV000415056 rs121913115 CA341422	278	Y>C	Hypochondroplasia Hypochondroplasia (hch) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000017767 RCV000730955 RCV000017766 CA280224 rs121913114	279	S>C	Hypochondroplasia Achondroplasia Hypochondroplasia (hch) Achondroplasia (ach) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
rs587776836 RCV000017762	284	H>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
CA91250013 RCV001257280 rs993429581	292	E>V	Pituitary stalk interruption syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA250656 COSM728 rs121913111 VAR_018388 RCV000017761	322	E>K	Carcinoma of colon colorectal cancer pancreas large_intestine [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1246952737 CA355978273 RCV000505685	331	F>L	Neuroblastoma [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs373496046 RCV000022552 CA128567	334	A>T	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP gnomAD
CA345154 RCV000056066 rs587778775	342	G>C	Hypochondroplasia Hypochondroplasia (hch) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000190718 rs757013992 CA204712	360	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA129946 VAR_004151 COSM716 rs121913479 COSM1666837	370	G>C	urinary_tract skin KERSEB, BLC, keratinocytic non-epidermolytic nevus and TD1 [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
VAR_004152 COSM1742346 RCV000431173 RCV000017736 CA341399 rs121913484 COSM17461 RCV000441695 RCV000757295	371	S>C	Thanatophoric dysplasia type 1 Carcinoma Urinary bladder carcinoma skin urinary_tract KERSEB and TD1 [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM718 COSM1666838 VAR_004153 rs121913485 CA341413	373	Y>C	KERSEB and TD1; disulfide-linked dimer with constitutive kinase activation urinary_tract skin haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
rs75790268 VAR_004154 CA280219	375	G>C	ACH Achondroplasia (ach) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
rs28931614 COSM24842 COSM1133722 VAR_004155 CA280218	380	G>R	keratinocytic non-epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling skin urinary_tract Achondroplasia (ach) [UniProt, Cosmic, Ensembl]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
RCV000194803 rs28931615 COSM721 RCV000414319 RCV000017726 RCV000439126 VAR_004156 RCV000623005 CA249860	391	A>E	CAN Crouzon syndrome-acanthosis nigricans syndrome Carcinoma skin urinary_tract Craniosynostosis syndrome Crouzon syndrome with acanthosis nigricans (can) Inborn genetic diseases [UniProt, ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
rs761325047 CA16043902 RCV000415512	444	S>C	Craniosynostosis, nonspecific [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761325047 CA2810368 RCV000709871	444	S>F	Achondroplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16043903 RCV000415482 rs1057519048	494	I>V	Craniosynostosis, nonspecific [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM4135509 COSM4135510 rs1560437651 RCV000782367 CA355981268	507	V>M	Thanatophoric dysplasia type 1 ovary [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913112 CA126384 VAR_029887	513	D>N	LADDS [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1721801068 RCV001253746	536	K>E	Achondroplasia [ClinVar]	Yes	ClinVar dbSNP
rs80053154 VAR_004157 RCV000017754 CA341417	538	I>V	Hypochondroplasia Hypochondroplasia (hch) hypochondroplasia [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000415500 RCV001574130 CA16043904 rs1057519049	540	N>D	Craniosynostosis, nonspecific [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000623459 VAR_018389 CA341420 rs77722678 RCV000017758	540	N>S	Hypochondroplasia hypochondroplasia; mild Hypochondroplasia (hch) Inborn genetic diseases [ClinVar, UniProt, Ensembl]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000017753 rs77722678 CA341415 VAR_004159	540	N>T	Hypochondroplasia Hypochondroplasia (hch) hypochondroplasia [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000144699 CA170920 rs587777857	546	T>K	Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs199544087 RCV000733922 CA2810534 RCV000418578	553	V>M	Myeloproliferative disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM327093 VAR_029108 COSM1670849 CA126386 rs121913113	621	R>H	CATSHLS haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt dbSNP gnomAD
rs200849753 RCV000207413 CA072649 COSM133156 RCV000711636	627	E>K	soft_tissue Anophthalmia-microphthalmia syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000656386 CA355982386 rs1453271838	628	D>N	Levy-Hollister syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
COSM133158 CA156287 RCV000119360 rs104886005	636	F>L	Sarcoma soft_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1721879424 RCV001253711	641	D>I	Hypochondroplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001262373 rs1721879680	641	D>V	Hypochondroplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000420182 CA16603110 rs587779383	648	Y>F	Carcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16603111 RCV000422706 rs587779383	648	Y>S	Acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs78311289 COSM719 VAR_004160 COSM1757111 CA126376	650	K>E	KERSEB, TD2, TGCT and BLC; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling Hypochondroplasia (hch) central_nervous_system skin urinary_tract testis haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs121913105 RCV000017750 VAR_004161 COSM720 CA126382 RCV000017749	650	K>M	Thanatophoric dysplasia type 1 KERSEB, ACH, TD1 and SADDAN; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling urinary_tract skin SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS haematopoietic_and_lymphoid_tissue [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
rs78311289 CA170755 COSM726 VAR_018390	650	K>Q	hypochondroplasia and BLC; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations; constitutively activated kinase Hypochondroplasia (hch) urinary_tract [UniProt, Ensembl, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs121913480 CA16602701 RCV000417814 COSM24802 RCV000440614	697	G>C	upper_aerodigestive_tract Carcinoma Urinary bladder carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000017739 rs121913103 CA341407	807	T>C	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA344897 rs121913103 RCV000055765	807	T>C	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000017737 CA341401 rs121913101 RCV000493112	807	T>G	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000055763 CA344893 rs121913101	807	T>R	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121913101 CA341404 RCV000017738 RCV000520562	807	T>R	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA344898 RCV000055766 rs121913103	807	T>W	Thanatophoric dysplasia type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1560384106 RCV000722190	1	M>I		No	ClinVar dbSNP
rs1259385466 CA355985113	3	A>P		No	ClinGen gnomAD
rs1259385466 CA355985111	3	A>S		No	ClinGen gnomAD
rs1438844182 CA355985126	4	P>A		No	ClinGen TOPMed
rs771133929 CA2809673	5	A>P		No	ClinGen ExAC gnomAD
CA355985219 rs1577253582	7	A>T		No	ClinGen Ensembl
rs1198522381 CA355985277	9	A>E		No	ClinGen gnomAD
CA355985272 rs1479502935	9	A>T		No	ClinGen gnomAD
rs918934226 CA91266055	10	L>F		No	ClinGen TOPMed
CA355985326 rs918934226	10	L>V		No	ClinGen TOPMed
CA2809676 rs772001869	13	A>V		No	ClinGen ExAC gnomAD
rs1048857045 CA91266059	14	V>M		No	ClinGen TOPMed gnomAD
CA2809677 rs573850631	15	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1387880288 CA355985574	17	V>L		No	ClinGen gnomAD
rs908992323 CA91266062	18	A>T		No	ClinGen TOPMed gnomAD
rs1303022894 CA355985642	18	A>V		No	ClinGen TOPMed gnomAD
rs1479458154 CA355985703	19	G>V		No	ClinGen TOPMed
CA355985784 rs587778351	21	S>F		No	ClinGen Ensembl
CA159679 rs587778351 RCV000121068	21	S>Y		No	ClinGen ClinVar Ensembl dbSNP
rs776259575 CA2809681	23	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2809679 rs768338767	23	E>G		No	ClinGen ExAC gnomAD
CA355985823 rs1577253714	23	E>K		No	ClinGen Ensembl
CA355985870 rs1316755192	24	S>T		No	ClinGen gnomAD
CA355985943 rs762402180	25	L>F		No	ClinGen ExAC TOPMed gnomAD
CA355985968 rs1221876688	26	G>E		No	ClinGen gnomAD
rs1233540365 CA355985980	27	T>A		No	ClinGen TOPMed
rs768021369 CA2809685	28	E>K		No	ClinGen ExAC gnomAD
CA355986045 rs1175479821	29	Q>*		No	ClinGen gnomAD
CA2809686 rs553265665	29	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA91266075 rs920652013	30	R>G		No	ClinGen Ensembl
rs756437064 CA2809687	30	R>H		No	ClinGen ExAC gnomAD
rs756437064 CA91266078	30	R>L		No	ClinGen ExAC gnomAD
rs754103775 CA2809689	32	V>L		No	ClinGen ExAC gnomAD
CA355986220 rs1423659685	35	A>V		No	ClinGen TOPMed gnomAD
rs866667748 CA91266083	36	A>E		No	ClinGen Ensembl
CA2809716 rs747890000	37	E>D		No	ClinGen ExAC gnomAD
rs1553842213 RCV000500832 RCV001755739 CA355986253	37	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1577267107 CA355972132	38	V>A		No	ClinGen Ensembl
rs1472374673 CA355972126	38	V>L		No	ClinGen TOPMed
rs769591617 CA2809717	39	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748963805 CA2809719	40	G>A		No	ClinGen ExAC gnomAD
CA355972186 rs770464815	42	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2809721 rs773786734	43	P>S		No	ClinGen ExAC TOPMed gnomAD
CA159688 RCV000121071 RCV000641214 rs146080119	44	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1429627940 CA355972209	44	G>V		No	ClinGen gnomAD
CA355972257 rs1292345144	48	Q>*		No	ClinGen TOPMed
CA2809724 rs777287621	48	Q>H		No	ClinGen ExAC gnomAD
CA355972266 rs759325576	49	L>M		No	ClinGen ExAC TOPMed gnomAD
CA355972270 rs1337591795	49	L>S		No	ClinGen gnomAD
CA91245468 rs759325576	49	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765760358 CA2809726	50	V>A		No	ClinGen ExAC TOPMed gnomAD
rs954904695 CA91245474	50	V>F		No	ClinGen TOPMed gnomAD
CA355972279 rs954904695	50	V>I		No	ClinGen TOPMed gnomAD
rs763132475 CA355972303	51	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2809730 rs751554185	52	G>D		No	ClinGen ExAC gnomAD
CA355972324 rs143548893	53	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201433984 RCV000592095 CA2809731	53	S>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2809733 rs370940011	54	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447427808 CA355972356	56	A>T		No	ClinGen TOPMed
rs1444898156 CA355972369	56	A>V		No	ClinGen gnomAD
rs61735064 CA159691	57	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374561001 CA2809734	58	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA91245542 rs927310452	60	S>N		No	ClinGen Ensembl
CA355972439 rs1480286871	61	C>Y		No	ClinGen gnomAD
rs533866031 CA159682 RCV000121069	62	P>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2809736 rs778645659	62	P>L		No	ClinGen ExAC
rs533866031 CA2809735	62	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371729802 CA2809739	63	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371729802 CA2809737	63	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340463980 CA355972481	64	P>A		No	ClinGen TOPMed
CA355972485 rs763406515	64	P>L		No	ClinGen ExAC gnomAD
rs763406515 CA2809743	64	P>R		No	ClinGen ExAC gnomAD
CA159694 rs2305178 VAR_022167	65	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759546081 CA2809745	66	G>S		No	ClinGen ExAC gnomAD
rs1054297419 CA91245633	66	G>V		No	ClinGen TOPMed
CA91245649 rs893035807	68	P>A		No	ClinGen TOPMed
rs1276396531 CA355972554	68	P>L		No	ClinGen gnomAD
CA91245673 rs886254380	69	M>I		No	ClinGen Ensembl
CA91245670 rs932569778	69	M>T		No	ClinGen TOPMed
CA2809748 rs373818958	69	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284524676 CA355972584	70	G>R		No	ClinGen gnomAD
CA355972609 rs1427631449	71	P>L		No	ClinGen TOPMed
rs1267604868 CA355972620	72	T>A		No	ClinGen gnomAD
rs1200851427 CA355972650	73	V>A		No	ClinGen gnomAD
CA2809750 rs753541863	73	V>I		No	ClinGen ExAC gnomAD
CA355972643 rs753541863	73	V>L		No	ClinGen ExAC gnomAD
CA355972683 rs1468925142	75	V>F		No	ClinGen gnomAD
COSM1428664 CA2809752 COSM1428663 rs778358980	79	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA355972749 rs1421801089	80	G>V		No	ClinGen gnomAD
rs1176469466 CA355972775	82	V>A		No	ClinGen TOPMed
rs1365111379 CA355972762	82	V>M		No	ClinGen gnomAD
CA355972779 rs1265105965	83	P>S		No	ClinGen TOPMed
CA341425 rs121913116	84	S>L	Hypochondroplasia (hch) Achondroplasia (ach) [Ensembl]	No	ClinGen Ensembl
CA355972818 rs1325464631	85	E>D		No	ClinGen gnomAD
CA355972826 rs1333699127	86	R>H		No	ClinGen gnomAD
rs1490206171 CA355972868	89	V>L		No	ClinGen TOPMed
rs144995231 CA2809756 RCV000318727 RCV000725123	91	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355972897 rs1243401432	91	P>S		No	ClinGen TOPMed gnomAD
rs771333357 CA2809759	93	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199968400 CA2809758	93	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA891843343 rs1560406964 RCV000710050	93	R>W		No	ClinGen ClinVar Ensembl dbSNP
rs1181504082 CA355972959	96	V>M		No	ClinGen gnomAD
CA2809761 rs759815430	99	A>T		No	ClinGen ExAC gnomAD
rs587778352 RCV000121070 CA159685	100	S>C		No	ClinGen ClinVar ExAC TOPMed dbSNP
rs587778352 CA2809762	100	S>F		No	ClinGen ExAC TOPMed
CA91245812 rs80029045	101	H>P		No	ClinGen Ensembl
CA2809764 rs558935109 RCV000960655	102	E>K		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1394280534 CA355973071	105	G>R		No	ClinGen TOPMed gnomAD
CA2809767 rs756994930	106	A>D		No	ClinGen ExAC gnomAD
CA2809766 rs369634049	106	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs867943101 CA91245816	107	Y>H		No	ClinGen Ensembl
rs1382830115 CA355973135	109	C>F		No	ClinGen gnomAD
rs556916370 CA2809768	110	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA91245822 rs978856665	110	R>W		No	ClinGen TOPMed gnomAD
CA2809769 rs750076470	111	Q>R		No	ClinGen ExAC gnomAD
rs758163128 RCV000394407 CA2809770	112	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA91245827 rs1034392278	112	R>W		No	ClinGen gnomAD
rs992860365 CA91245837	113	L>P		No	ClinGen Ensembl
CA2809771 rs779882318	114	T>M		No	ClinGen ExAC gnomAD
rs746468796 CA355973200	115	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs746468796 CA2809772	115	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs587778769 CA344830	115	Q>L		No	ClinGen Ensembl
rs886042775 CA10604671 RCV000275746	116	R>C		No	ClinGen ClinVar Ensembl dbSNP
rs569221269 CA2809773	116	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475035118 CA355973237	117	V>A		No	ClinGen gnomAD
rs554790290 CA2809774	117	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355973229 rs554790290	117	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355973245 rs1168436500	118	L>V		No	ClinGen TOPMed gnomAD
CA355973263 rs1468063345	119	C>Y		No	ClinGen gnomAD
rs771188160 CA2809775	120	H>N		No	ClinGen ExAC gnomAD
CA355973294 rs1397454065	121	F>V		No	ClinGen gnomAD
rs377198109 CA91245916	122	S>N		No	ClinGen Ensembl
CA355973336 rs199740841	124	R>G		No	ClinGen ESP TOPMed
rs774749538 CA2809776	124	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199740841 CA91245926	124	R>W		No	ClinGen ESP TOPMed
rs1325407910 CA355973352	125	V>L		No	ClinGen gnomAD
CA355973357 rs1325407910	125	V>M		No	ClinGen gnomAD
CA2809804 rs200300532	128	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388909987 CA355973494	128	A>V		No	ClinGen gnomAD
rs751165912 CA2809805	129	P>L		No	ClinGen ExAC gnomAD
rs113172184 RCV000431217 CA2809806	130	S>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs113172184 CA355973507	130	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs766911583 CA2809807	131	S>L		No	ClinGen ExAC gnomAD
CA91246371 rs951384304	131	S>P		No	ClinGen TOPMed gnomAD
CA355973525 rs1577269188	132	G>V		No	ClinGen Ensembl
rs199792768 CA355973556	134	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2809809 rs774962503	135	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355973585 rs1249605737	137	G>E		No	ClinGen gnomAD
rs750990333 CA2809810	137	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1577269244 CA355973597	138	E>G		No	ClinGen Ensembl
CA2809811 rs376268669	139	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA91246428 rs3135867	139	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542749920 CA2809813 COSM3696545 COSM3696544	140	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2809814 rs542749920	140	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA91246446 rs973244733	140	E>V		No	ClinGen Ensembl
rs1403627710 CA355973623	141	A>T		No	ClinGen TOPMed
CA2809815 rs781302593	143	D>G		No	ClinGen ExAC gnomAD
rs748192608 CA2809816	144	T>R		No	ClinGen ExAC TOPMed gnomAD
rs921767157 CA91246486	145	G>D		No	ClinGen Ensembl
rs1459930425 CA355973669	145	G>S		No	ClinGen gnomAD
rs770008395 CA2809817	146	V>M		No	ClinGen ExAC gnomAD
rs773269128 CA2809818	147	D>H		No	ClinGen ExAC gnomAD
CA2809855 rs749337219	149	G>E		No	ClinGen ExAC gnomAD
rs1311750160 CA355973709	149	G>R		No	ClinGen gnomAD
CA355974757 rs1477909570	150	A>P		No	ClinGen gnomAD
rs1399215468 CA355974810	154	T>R		No	ClinGen gnomAD
rs896938786 CA91249048	155	R>Q		No	ClinGen TOPMed gnomAD
CA355974814 rs1361311749	155	R>W		No	ClinGen TOPMed gnomAD
CA355974839 rs1330260382	157	E>K		No	ClinGen gnomAD
CA2809858 rs745863884	158	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1162571458 CA355974854	158	R>W		No	ClinGen TOPMed
rs1276448509 CA355974880	160	D>A		No	ClinGen gnomAD
CA91249085 rs867329149	160	D>N		No	ClinGen TOPMed
rs867329149 CA355974878	160	D>Y		No	ClinGen TOPMed
CA355974898 rs1370686864	162	K>Q		No	ClinGen TOPMed gnomAD
CA2809859 rs577990843	164	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355974925 rs1286097899	165	A>T		No	ClinGen gnomAD
CA355974932 rs1219348193	166	V>M		No	ClinGen gnomAD
CA355974965 rs1222728854	169	A>T		No	ClinGen gnomAD
rs900767145 CA91249133	171	T>P		No	ClinGen Ensembl
CA355975032 rs1161547820	175	R>C		No	ClinGen TOPMed gnomAD
CA2809863 rs775241791	175	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355975077 rs1445511177	179	A>D		No	ClinGen gnomAD
rs764712450 CA2809865	179	A>T		No	ClinGen ExAC gnomAD
CA355975081 rs1445511177	179	A>V		No	ClinGen gnomAD
CA355975099 rs1309541150	181	N>I		No	ClinGen gnomAD
CA2809868 rs767900565	187	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1239039221 CA355975193	190	K>Q		No	ClinGen gnomAD
rs1368039024 CA355975227	192	G>D		No	ClinGen gnomAD
rs1467223293 CA355975232	193	R>G		No	ClinGen TOPMed
rs756575558 CA2809870	194	E>V		No	ClinGen ExAC gnomAD
rs1010991084 CA355975268	195	F>L		No	ClinGen TOPMed gnomAD
CA91249187 rs1010991084	195	F>L		No	ClinGen TOPMed gnomAD
rs866246581 CA355975276	196	R>C		No	ClinGen gnomAD
CA91249225 rs866735516	196	R>H		No	ClinGen gnomAD
CA91249220 rs866246581	196	R>S		No	ClinGen gnomAD
CA2809871 rs754122254	197	G>S		No	ClinGen ExAC gnomAD
rs1269918259 CA355975292	198	E>K		No	ClinGen TOPMed
rs1332910351 CA355975310	199	H>D		No	ClinGen gnomAD
rs1332910351 CA355975308	199	H>Y		No	ClinGen gnomAD
rs587778353 CA355975323 COSM327096	200	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA159697 RCV000121074 rs587778353	200	R>L		No	ClinGen ClinVar dbSNP gnomAD
CA355975340 rs1316393763	202	G>R		No	ClinGen gnomAD
rs1218387951 CA355975348	203	G>S		No	ClinGen gnomAD
rs1331893968 CA355975440	208	H>R		No	ClinGen gnomAD
CA2809905 rs769124009	208	H>Y		No	ClinGen ExAC gnomAD
CA355975461 rs777091470	210	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs369033272 CA2809907	211	W>*		No	ClinGen ESP ExAC gnomAD
CA355975491 rs1217196998	215	M>L		No	ClinGen gnomAD
CA2809909 rs750672389	216	E>G		No	ClinGen ExAC gnomAD
rs766513208 CA2809911	218	V>A		No	ClinGen ExAC gnomAD
CA2809915 rs752393208	221	S>L		No	ClinGen ExAC TOPMed gnomAD
rs946840147 CA91249476	223	R>H		No	ClinGen Ensembl
CA355975548 rs1362984994	224	G>S		No	ClinGen gnomAD
rs368831528 CA2809922	229	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368831528 CA2809923	229	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA91249537 rs865861623	230	V>A		No	ClinGen Ensembl
CA355975590 rs1577275171	230	V>L		No	ClinGen Ensembl
rs1311606532 CA355975595	231	E>K		No	ClinGen gnomAD
CA355975618 rs1319851708	233	K>N		No	ClinGen gnomAD
rs773302522 CA2809925	234	F>L		No	ClinGen ExAC TOPMed gnomAD
CA355975634 rs1265751461	235	G>S		No	ClinGen gnomAD
CA2809926 rs200495316	236	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs766423062 CA355975668	238	R>G		No	ClinGen ExAC TOPMed gnomAD
rs199944818 CA355975670	238	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199944818 CA2809928	238	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2809927 rs766423062	238	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2809929 rs759641808	240	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1422520442 CA355975692	240	T>S		No	ClinGen gnomAD
CA2809930 rs767373970	242	T>A		No	ClinGen ExAC gnomAD
rs150916178 CA2809931	242	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2809971 rs121913483	249	S>F		No	ClinGen ExAC TOPMed gnomAD
rs121913483 CA355975832	249	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs4647924 CA355975843	250	P>L	Muenke syndrome (mnkes) Achondroplasia (ach) Saethre-chotzen syndrome (scs) [Ensembl]	No	ClinGen TOPMed gnomAD
rs4647924 CA355975840	250	P>Q	Muenke syndrome (mnkes) Achondroplasia (ach) Saethre-chotzen syndrome (scs) [Ensembl]	No	ClinGen TOPMed gnomAD
rs373470718 CA355975838	250	P>S		No	ClinGen ESP ExAC gnomAD
rs373470718 CA2809972	250	P>T		No	ClinGen ESP ExAC gnomAD
rs377554120 CA2809974	251	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750072225 CA2809975	252	R>L		No	ClinGen ExAC gnomAD
CA355976126 rs1245414216	256	Q>*		No	ClinGen gnomAD
RCV000121076 CA159702 rs587778354	256	Q>H		No	ClinGen ClinVar Ensembl dbSNP
rs949596399 CA355976141	257	A>E		No	ClinGen TOPMed
rs1477816603 CA355976135	257	A>T		No	ClinGen gnomAD
rs949596399 CA91249877	257	A>V		No	ClinGen TOPMed
COSM1428691 rs751038752 COSM1428692 CA2809978	260	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1457537911 CA355976201	263	Q>R		No	ClinGen TOPMed
rs587778773 CA345147	264	T>M		No	ClinGen gnomAD
CA2809980 rs778283906	264	T>S		No	ClinGen ExAC TOPMed gnomAD
rs151254213 CA2809982 COSM107802	265	A>T	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1737908 rs779284979 CA2809983	265	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355976248 rs1241508464	269	S>G		No	ClinGen TOPMed
CA2809986 rs780147591	270	D>N		No	ClinGen ExAC gnomAD
CA355976277 rs1445397378	271	V>M		No	ClinGen TOPMed
rs768680057 CA2809988	274	H>L		No	ClinGen ExAC gnomAD
CA91249923 rs900590386	274	H>Y		No	ClinGen TOPMed gnomAD
rs1553845973 CA2809989	276	K>R		No	ClinGen Ensembl
rs121913114 CA355976371	279	S>G	Hypochondroplasia (hch) Achondroplasia (ach) [Ensembl]	No	ClinGen gnomAD
CA91249938 rs995992929	280	D>V		No	ClinGen TOPMed
CA2809992 rs761883478	282	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs773094879 CA2809994	283	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773094879 CA355976420	283	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM254688 rs769692611 COSM1753648 CA355976415	283	P>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2809993 rs769692611	283	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2809996 rs765988008	285	I>V		No	ClinGen ExAC TOPMed gnomAD
CA91249987 rs1004751192	291	V>L		No	ClinGen TOPMed gnomAD
CA355976507 rs1004751192	291	V>M		No	ClinGen TOPMed gnomAD
rs1331426875 CA355976520	292	E>Q		No	ClinGen gnomAD
CA355976542 rs1577276510	293	V>G		No	ClinGen Ensembl
rs1421059697 CA355976533	293	V>M		No	ClinGen gnomAD
rs1356545317 CA355976562	295	G>D		No	ClinGen TOPMed
CA355976558 rs1356317964	295	G>S		No	ClinGen gnomAD
rs780313125 CA2810005	300	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2810008 rs377588489	301	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1694074 CA2810010 COSM1694073 rs371176140	302	G>D	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2810009 rs748261686	302	G>S		No	ClinGen ExAC gnomAD
CA355976657 rs1236812238	304	P>L		No	ClinGen gnomAD
CA2810013 rs144675978	305	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810014 rs774047997	306	V>I		No	ClinGen ExAC gnomAD
CA2810017 rs774929566	308	V>M		No	ClinGen ExAC gnomAD
CA2810018 rs760206152	310	K>E		No	ClinGen ExAC gnomAD
CA2810129 rs761527653	311	T>M		No	ClinGen ExAC TOPMed gnomAD
rs778617562 CA2810132	312	A>E		No	ClinGen ExAC gnomAD
CA2810131 rs778617562	312	A>V		No	ClinGen ExAC gnomAD
rs1440582473 CA355978028	313	G>S		No	ClinGen gnomAD
rs1560426864 CA355978040	313	G>V		No	ClinGen Ensembl
CA2810135 rs748488719	314	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770204082 CA2810136	314	A>V		No	ClinGen ExAC gnomAD
rs777969410 CA2810137	315	N>H		No	ClinGen ExAC gnomAD
rs371410933 CA2810138	315	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1275078124 CA355978101	316	T>I		No	ClinGen gnomAD
CA2810140 rs774439963	317	T>A		No	ClinGen ExAC TOPMed gnomAD
rs974146925 CA91253143	317	T>S		No	ClinGen Ensembl
rs771975162 COSM3825567 CA2810142	318	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs932640983 CA91253153	319	K>Q		No	ClinGen gnomAD
CA2810144 rs775299111	319	K>R		No	ClinGen ExAC TOPMed gnomAD
CA355978163 rs1166671494	320	E>D		No	ClinGen TOPMed gnomAD
CA355978186 rs1328998931	322	E>D		No	ClinGen gnomAD
rs1281038061 CA355978180	322	E>G		No	ClinGen TOPMed
rs753520867 CA355978192	323	V>F		No	ClinGen ExAC TOPMed gnomAD
rs753520867 RCV000517414 CA2810147	323	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587778816 CA355978198	324	L>I		No	ClinGen gnomAD
rs587778816 CA345255	324	L>V		No	ClinGen gnomAD
CA2810150 rs749886786	327	H>Q		No	ClinGen ExAC gnomAD
rs372315097 CA2810149	327	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA91253171 rs985445815	327	H>Y		No	ClinGen TOPMed
CA2810152 rs781716463	328	N>D		No	ClinGen ExAC TOPMed gnomAD
rs587778817 CA345257	328	N>I		No	ClinGen TOPMed gnomAD
CA355978248 rs753213058	328	N>K		No	ClinGen ExAC TOPMed gnomAD
CA355978247 rs587778817	328	N>S		No	ClinGen TOPMed gnomAD
rs188723332 CA2810154	329	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810157 rs757430342	331	F>S		No	ClinGen ExAC gnomAD
rs373496046 CA91253193	334	A>S		No	ClinGen ESP gnomAD
CA2810160 rs772097747	335	G>R		No	ClinGen ExAC
CA355978326 rs1474909212	336	E>K		No	ClinGen gnomAD
CA2810163 rs768739746	338	T>S		No	ClinGen ExAC gnomAD
CA355978395 rs587778775	342	G>S	Hypochondroplasia (hch) [Ensembl]	No	ClinGen gnomAD
RCV000121077 rs199702395 CA159705	344	S>F		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA355978429 rs1315257038	345	I>V		No	ClinGen gnomAD
rs1044021305 CA91253233	348	S>F		No	ClinGen Ensembl
CA2810167 rs532318669 COSM3775710	349	H>Y	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs762523796 CA2810168	350	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1386607425 CA355978476	350	H>Q		No	ClinGen TOPMed gnomAD
CA16042557 rs1057517964	351	S>C	Hypochondroplasia (hch) [Ensembl]	No	ClinGen Ensembl
CA355978481 rs1057517964	351	S>F	Hypochondroplasia (hch) [Ensembl]	No	ClinGen Ensembl
CA10605715 rs886043604 RCV000300830	352	A>V		No	ClinGen ClinVar Ensembl dbSNP
rs753223626 CA2810169	355	V>L		No	ClinGen ExAC gnomAD
rs753223626 CA355978501	355	V>M		No	ClinGen ExAC gnomAD
CA2810171 rs764613314	358	P>S		No	ClinGen ExAC gnomAD
rs757013992 CA2810255	360	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2810256 rs745683500	361	E>A		No	ClinGen ExAC gnomAD
CA355978824 rs745683500	361	E>G		No	ClinGen ExAC gnomAD
rs1284349000 CA355978846	364	V>E		No	ClinGen TOPMed gnomAD
CA355978841 rs1474313537	364	V>M		No	ClinGen gnomAD
CA2810257 rs757980849	365	E>K		No	ClinGen ExAC gnomAD
CA2810259 rs779695832	367	D>E		No	ClinGen ExAC gnomAD
CA355978867 rs1444200455	367	D>N		No	ClinGen TOPMed
CA355978866 rs1444200455 RCV000523632	367	D>Y		No	ClinGen ClinVar TOPMed dbSNP
rs773566065 CA2810261	368	E>A		No	ClinGen ExAC gnomAD
CA2810260 rs201136923	368	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146970233 CA2810263	369	A>V		No	ClinGen ESP ExAC gnomAD
CA355978901 rs121913479	370	G>S		No	ClinGen TOPMed gnomAD
rs759980266 CA355978916	371	S>I		No	ClinGen ExAC gnomAD
CA2810265 rs759980266	371	S>T		No	ClinGen ExAC gnomAD
rs868599579 CA91253864	372	V>A		No	ClinGen Ensembl
rs767787097 CA2810267	376	I>N		No	ClinGen ExAC gnomAD
rs767787097 CA2810266	376	I>T		No	ClinGen ExAC gnomAD
CA2810269 rs764273223	377	L>F		No	ClinGen ExAC TOPMed gnomAD
rs267606809 CA355978988	377	L>P	Achondroplasia (ach) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA357251 rs267606809	377	L>R	Achondroplasia (ach) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs1254373732 CA355978990	378	S>R		No	ClinGen gnomAD
rs28931614 COSM1133722 COSM24842 CA129944	380	G>R	skin urinary_tract Achondroplasia (ach) [Cosmic, Ensembl]	No	ClinGen cosmic curated TOPMed gnomAD
rs1156685556 CA355979030	380	G>V		No	ClinGen Ensembl
rs587778776 CA345158	381	V>E		No	ClinGen gnomAD
CA355979036 rs587778776	381	V>G		No	ClinGen gnomAD
CA2810271 rs149023204	381	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750161905 CA2810272	382	G>A		No	ClinGen ExAC
rs1360936268 CA355979042	382	G>C		No	ClinGen TOPMed
rs11943863 CA91253903	383	F>C		No	ClinGen TOPMed
rs1309809400 CA355979049	383	F>L		No	ClinGen gnomAD
rs17881656 CA2810274	384	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1539830 rs17881656 VAR_022168 CA159710 COSM724	384	F>L	lung urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200186825 CA355979075	385	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs774204416 CA91253927	387	I>F		No	ClinGen TOPMed
rs774204416 CA355979096	387	I>V		No	ClinGen TOPMed
rs1577285028 CA355979126	389	V>L		No	ClinGen Ensembl
COSM1737909 rs28931615 RCV000998207 CA355979160	391	A>V	urinary_tract Crouzon syndrome with acanthosis nigricans (can) [Cosmic, Ensembl]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA355979183 rs1577285056	393	V>G		No	ClinGen Ensembl
CA2810278 rs747694886	394	T>M		No	ClinGen ExAC TOPMed gnomAD
CA91253948 rs878898949	395	L>R		No	ClinGen Ensembl
CA2810282 rs576428377	397	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542210035 CA2810284	397	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs542210035 CA2810283	397	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1258660989 CA355979250	398	L>V		No	ClinGen gnomAD
COSM296687 rs370064407 CA2810286	399	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM340691 rs761896295 CA2810287	399	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373034495 CA2810288	400	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs762705505 CA2810293	401	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762705505 CA2810294	401	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762705505 CA2810292	401	P>T		No	ClinGen ExAC TOPMed gnomAD
rs752194597 CA2810298	402	P>H		No	ClinGen ExAC TOPMed gnomAD
rs752194597 CA2810297	402	P>R		No	ClinGen ExAC TOPMed gnomAD
rs374947075 CA2810296	402	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810300 rs373640210	403	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810301 rs772301946	403	K>R		No	ClinGen ExAC TOPMed gnomAD
rs780415133 CA2810302	404	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2810303 rs747363570	404	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2810304 rs768867257	405	G>C		No	ClinGen ExAC gnomAD
CA91254012 rs201813356	405	G>D		No	ClinGen 1000Genomes TOPMed
rs201813356 CA355979450	405	G>V		No	ClinGen 1000Genomes TOPMed
rs201751659 CA91254027	406	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs761877926 CA2810306	408	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1314341121 CA355979539	409	P>L		No	ClinGen gnomAD
rs751304574 CA2810311	410	T>S		No	ClinGen ExAC gnomAD
CA2810313 rs759057257	411	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759057257 CA2810312	411	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2810314 rs752460284	412	H>P		No	ClinGen ExAC TOPMed
rs375687485 CA355979621	413	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2810318 rs140898926	413	K>N		No	ClinGen ExAC TOPMed gnomAD
rs375687485 CA2810316	413	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs767109009 CA2810317	413	K>R		No	ClinGen ExAC TOPMed gnomAD
rs780428794 COSM1428709 CA2810319 COSM1428710	414	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2810321 rs146114742	416	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA91254104 rs868356240	416	R>H		No	ClinGen TOPMed gnomAD
rs781361431 CA2810322	418	P>L		No	ClinGen ExAC gnomAD
CA2810324 rs770029887	419	L>F		No	ClinGen ExAC TOPMed gnomAD
rs773239816 CA2810325	419	L>P		No	ClinGen ExAC gnomAD
CA2810327 rs369368608	420	K>N		No	ClinGen ESP ExAC gnomAD
rs762949938 CA2810326	420	K>R		No	ClinGen ExAC gnomAD
COSM1053500 COSM1594414 RCV000121078 rs587778355 CA159707	421	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1256546303 CA355979998	423	V>L		No	ClinGen TOPMed gnomAD
CA355980013 rs1189213092	424	S>F		No	ClinGen TOPMed gnomAD
rs777965130 CA2810358	425	L>R		No	ClinGen ExAC gnomAD
rs1391325047 CA355980042	427	S>C		No	ClinGen gnomAD
rs1168038163 CA355980039	427	S>P		No	ClinGen gnomAD
rs138986264 CA2810359	428	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810360 rs182935140	429	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1428712 COSM1428711 CA355980070 rs1336368202	429	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA355980073 rs1268914552	430	S>P		No	ClinGen gnomAD
rs899570397 CA355980087	431	M>L		No	ClinGen gnomAD
rs899570397 CA91254474	431	M>V		No	ClinGen gnomAD
CA91254488 rs974287483	432	S>I		No	ClinGen TOPMed
rs1367187610 CA355980117	433	S>T		No	ClinGen gnomAD
rs997891391 CA91254495	433	S>Y		No	ClinGen Ensembl
CA2810363 rs772065909	434	N>H		No	ClinGen ExAC gnomAD
CA355980151 rs1279276931	435	T>I		No	ClinGen gnomAD
rs142030909 CA2810364	436	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355980177 rs1202003311	438	V>L		No	ClinGen gnomAD
rs1202003311 CA355980175	438	V>M		No	ClinGen gnomAD
rs749083353 CA91254512	439	R>C		No	ClinGen TOPMed gnomAD
rs749083353 CA91254508	439	R>G		No	ClinGen TOPMed gnomAD
CA2810366 rs529493162	439	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA355980201 rs1249367175	440	I>V		No	ClinGen gnomAD
CA91254516 rs17884368 VAR_022169	441	A>T		No	ClinGen UniProt dbSNP gnomAD
CA355980230 rs1466855363	442	R>S		No	ClinGen gnomAD
CA355980226 rs1395053667	442	R>T		No	ClinGen gnomAD
CA355980279 rs1367467022	447	E>*		No	ClinGen gnomAD
CA355980283 rs1438569324	447	E>V		No	ClinGen gnomAD
COSM3696553 CA159725 COSM3696552 rs61735104	449	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs56240927 CA159728	450	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs547391969 CA91254571	451	L>M		No	ClinGen 1000Genomes TOPMed
rs3135893 CA91254581	452	A>P		No	ClinGen TOPMed gnomAD
CA91254582 rs3135893	452	A>S		No	ClinGen TOPMed gnomAD
rs1466726466 CA355980349	453	N>S		No	ClinGen gnomAD
CA355980354 rs1212577208	454	V>I		No	ClinGen gnomAD
CA2810370 rs144242294	455	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201375716 CA355980492	456	E>*		No	ClinGen TOPMed gnomAD
RCV000723250 CA355980488 COSM1594413 COSM1053504 rs1201375716	456	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs1362435788 CA355980506	457	L>F		No	ClinGen gnomAD
rs900372633 CA355980514	458	E>K		No	ClinGen TOPMed gnomAD
CA91255703 rs900372633	458	E>Q		No	ClinGen TOPMed gnomAD
rs764488842 CA2810373	460	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771872811 CA91255725	462	D>N		No	ClinGen Ensembl
rs1388464798 COSM1428714 CA355980641 COSM1428713	469	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1030209496 CA91255734	470	A>S		No	ClinGen TOPMed
rs533045918 CA91255748	471	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810374 rs533045918	471	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355980726 rs1577288365	473	T>P		No	ClinGen Ensembl
rs1170183154 CA355980744	475	G>S		No	ClinGen gnomAD
rs200780581 CA91256213	480	E>D		No	ClinGen 1000Genomes
CA2810403 rs769701323	481	G>D		No	ClinGen ExAC gnomAD
CA355980850 rs1303034560	482	C>W		No	ClinGen gnomAD
CA357255 rs267606808	485	Q>R		No	ClinGen Ensembl
CA355981020 rs1292564852	491	A>V		No	ClinGen gnomAD
CA2810408 rs745385417	492	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777253325 CA2810410	493	G>S		No	ClinGen ExAC
rs762079212 CA2810411	494	I>T		No	ClinGen ExAC gnomAD
CA159731 rs587778359 RCV000121086	496	K>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA91256272 rs773735098	498	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1184790681 CA355981166	498	R>L		No	ClinGen gnomAD
rs1184790681 CA355981159	498	R>Q		No	ClinGen gnomAD
rs773735098 CA2810412	498	R>W		No	ClinGen ExAC TOPMed gnomAD
CA91256290 rs370646097	499	A>P		No	ClinGen TOPMed
rs911728451 CA91256295	499	A>V		No	ClinGen TOPMed
CA2810415 COSM88800 rs751635116	500	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2810416 rs755145822	500	A>V		No	ClinGen ExAC gnomAD
CA355981201 rs1176591119	501	K>R		No	ClinGen gnomAD
CA355981210 rs767356787	502	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767356787 CA2810417	502	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2810418 rs752724806	503	V>A		No	ClinGen ExAC gnomAD
rs1169921501 CA355981218	503	V>I		No	ClinGen TOPMed
rs1319246268 CA355981239	504	T>I		No	ClinGen gnomAD
CA2810420 COSM1428715 rs144546453 COSM1428716	505	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA355981246 rs144546453	505	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778548356 CA355981326	512	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2810424 rs778548356	512	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2810466 rs749863914	513	D>G		No	ClinGen ExAC gnomAD
rs121913112 CA355981399	513	D>H		No	ClinGen ExAC TOPMed gnomAD
rs771583472 CA2810467	514	A>G		No	ClinGen ExAC gnomAD
rs1340047975 CA355981414	515	T>S		No	ClinGen gnomAD
CA2810470 rs772276122	516	D>A		No	ClinGen ExAC TOPMed gnomAD
rs772276122 CA91256690	516	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2810468 rs779377617	516	D>H		No	ClinGen ExAC gnomAD
rs779377617 CA2810469	516	D>Y		No	ClinGen ExAC gnomAD
rs560351992 CA91256695	517	K>E		No	ClinGen TOPMed gnomAD
rs560351992 CA91256691	517	K>Q		No	ClinGen TOPMed gnomAD
rs139707740 CA239727	517	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs587778356 RCV000121080 CA159713	520	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355981439 rs1183151994	520	S>P		No	ClinGen gnomAD
rs894012644 CA91256729	521	D>G		No	ClinGen TOPMed
rs750175353 CA2810475	523	V>A		No	ClinGen ExAC gnomAD
rs765164423 CA2810474	523	V>L		No	ClinGen ExAC gnomAD
CA2810478 rs751213196	526	M>I		No	ClinGen ExAC TOPMed gnomAD
CA355981479 rs751213196	526	M>I		No	ClinGen ExAC TOPMed gnomAD
RCV000613320 CA2810477 rs766053734	526	M>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1448843898 CA355981496	528	M>I		No	ClinGen TOPMed gnomAD
rs1448843898 CA355981494	528	M>I		No	ClinGen TOPMed gnomAD
CA355981489 rs1387532293	528	M>V		No	ClinGen TOPMed
CA2810479 rs754516664	529	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2810480 rs767090421	531	M>T		No	ClinGen ExAC gnomAD
CA355981514 rs1227606873	531	M>V		No	ClinGen gnomAD
CA355981527 rs528979086	532	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1057519049 CA355981579	540	N>H		No	ClinGen TOPMed gnomAD
rs28933068 CA341412	540	N>K	Hypochondroplasia (hch) Achondroplasia (ach) [Ensembl]	No	ClinGen ExAC gnomAD
CA341410 VAR_004158 rs28933068	540	N>K	Hypochondroplasia (hch) Achondroplasia (ach) hypochondroplasia [Ensembl, UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
rs762781471 CA2810491	544	A>S		No	ClinGen ExAC TOPMed gnomAD
CA355981598 rs762781471	544	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355981607 rs1434520290	545	C>S		No	ClinGen gnomAD
rs587777857 CA355981615	546	T>M		No	ClinGen TOPMed
rs1360262347 CA355981622	547	Q>H		No	ClinGen TOPMed gnomAD
rs972200588 CA91256841	548	G>S		No	ClinGen TOPMed
rs990480051 CA91257007	550	P>S		No	ClinGen Ensembl
rs199544087 CA355981665	553	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199544087 CA2810535	553	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355981677 rs1254322699 RCV000658989	555	V>E		No	ClinGen ClinVar TOPMed dbSNP
rs1474187970 COSM303914 CA355981674	555	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA355981696 rs1349433800	558	A>T		No	ClinGen gnomAD
CA91257034 rs1048418015	558	A>V		No	ClinGen TOPMed gnomAD
RCV000497735 CA2810539 rs768385286	559	A>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768385286 CA355981701	559	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775946807 CA2810540	559	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759874872 CA2810544	567	L>V		No	ClinGen ExAC gnomAD
rs753095502 CA2810546	568	R>L		No	ClinGen ExAC gnomAD
rs146672976 CA2810547 RCV000983953	569	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1012768863 CA91257122	570	R>Q		No	ClinGen TOPMed
CA2810550 COSM42893 rs757421718	572	P>A	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377141691 CA91257155	572	P>L		No	ClinGen ESP TOPMed gnomAD
CA2810551 rs757421718	572	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2810552 rs745848425	573	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1288482979 CA355981786	574	G>D		No	ClinGen TOPMed
CA2810555 rs746824967	575	L>P		No	ClinGen ExAC gnomAD
rs752311470 CA91257171	576	D>Y		No	ClinGen TOPMed
rs1560440644 CA355981805	577	Y>C		No	ClinGen Ensembl
rs989826317 CA2810557	578	S>F		No	ClinGen TOPMed gnomAD
CA355981812 rs989826317	578	S>Y		No	ClinGen TOPMed gnomAD
rs761196249 CA355981821	580	D>H		No	ClinGen ExAC TOPMed
rs761196249 CA2810560	580	D>N		No	ClinGen ExAC TOPMed
rs914339017 CA91257200	581	T>I		No	ClinGen TOPMed gnomAD
CA355981830 rs1312811883	581	T>P		No	ClinGen gnomAD
CA2810562 rs769341070	583	K>M		No	ClinGen ExAC TOPMed gnomAD
rs769341070 CA2810561	583	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2810563 rs759993319	584	P>A		No	ClinGen ExAC gnomAD
CA2810564 rs145183329	584	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759993319 CA355981847	584	P>S		No	ClinGen ExAC gnomAD
RCV000658045 CA2810566 rs761163163	585	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355981860 rs1199886553	586	E>G		No	ClinGen gnomAD
CA2810568 rs576023546	586	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355981873 rs1488093518	588	Q>E		No	ClinGen TOPMed
CA159716 rs587778357 RCV000121081	589	L>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA91257261 rs1000692934	590	T>A		No	ClinGen gnomAD
CA2810574 rs754840234	591	F>C		No	ClinGen ExAC gnomAD
rs746774947 CA2810573	591	F>I		No	ClinGen ExAC gnomAD
CA2810576 rs780684393	591	F>L		No	ClinGen ExAC gnomAD
CA355981908 rs772639573	593	D>E		No	ClinGen ExAC TOPMed gnomAD
CA91257303 rs1032127585	593	D>H		No	ClinGen gnomAD
rs1032127585 CA355981902	593	D>Y		No	ClinGen gnomAD
CA2810580 rs772558079	597	C>G		No	ClinGen ExAC gnomAD
rs544955705 CA2810581	598	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs764571446 CA2810583	599	Y>F		No	ClinGen ExAC TOPMed gnomAD
COSM2156095 RCV000520633 COSM2156094 rs1462697338 CA355981966	603	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA91257319 rs866827198	603	R>W		No	ClinGen gnomAD
rs1197666036 CA355981990	606	E>D		No	ClinGen gnomAD
CA2810584 rs776884460	606	E>G		No	ClinGen ExAC gnomAD
CA355981996 rs1414871162	607	Y>C		No	ClinGen gnomAD
rs142093553 CA91257326	609	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA355982008 rs1187984140	609	A>T		No	ClinGen TOPMed gnomAD
rs142093553 CA2810586	609	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176295260 CA355982015	610	S>F		No	ClinGen TOPMed gnomAD
rs1176295260 CA355982013	610	S>Y		No	ClinGen TOPMed gnomAD
CA355982021 rs1560441825	611	Q>L		No	ClinGen Ensembl
CA355982202 rs1293700770	613	C>Y		No	ClinGen gnomAD
rs753541491 CA2810618	619	A>G		No	ClinGen ExAC gnomAD
CA355982328 rs1405301107	623	V>M		No	ClinGen gnomAD
rs778449048 CA2810620	626	T>S		No	ClinGen ExAC gnomAD
rs1355392053 CA355982408	629	N>S		No	ClinGen gnomAD
COSM29448 rs1336255288 CA355982416	630	V>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs573600072 CA2810623	634	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1204253889 CA355982527	640	R>Q		No	ClinGen gnomAD
rs771059356 CA355982539	642	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771059356 CA2810626	642	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768341676 CA355982558	644	N>K		No	ClinGen TOPMed gnomAD
CA355982559 rs1472731505	645	L>V		No	ClinGen gnomAD
CA91257471 rs587779383	648	Y>C		No	ClinGen Ensembl
CA355982594 rs1448029825	649	K>R		No	ClinGen gnomAD
COSM1428730 rs28928868 CA280221 COSM1428729	650	K>N	upper_aerodigestive_tract Hypochondroplasia (hch) large_intestine [Cosmic, Ensembl]	No	ClinGen cosmic curated gnomAD
COSM1428730 rs28928868 COSM1428729 CA341419	650	K>N	upper_aerodigestive_tract Hypochondroplasia (hch) large_intestine [Cosmic, Ensembl]	No	ClinGen cosmic curated gnomAD
CA345185 rs121913105 COSM731	650	K>T	central_nervous_system urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs753665954 CA2810633	652	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1358618786 CA355982628	652	T>S		No	ClinGen gnomAD
CA2810635 rs150609697	653	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355982641 rs1338610005	653	N>T		No	ClinGen TOPMed gnomAD
rs1458777242 CA355982724	655	R>Q		No	ClinGen TOPMed
CA355982718 rs1297767255	655	R>W		No	ClinGen TOPMed
CA355982786 rs1286115507	660	W>L		No	ClinGen gnomAD
CA355982818 rs1353477847	662	A>G		No	ClinGen gnomAD
rs773652498 CA2810669	662	A>P		No	ClinGen ExAC gnomAD
CA355982828 rs1195256125	663	P>L		No	ClinGen TOPMed
rs764892330 CA2810673	665	A>S		No	ClinGen ExAC TOPMed gnomAD
CA355982908 rs1490564667	669	R>*		No	ClinGen gnomAD
CA355982906 rs1490564667	669	R>G		No	ClinGen gnomAD
CA355982910 rs773089715	669	R>L		No	ClinGen ExAC gnomAD
COSM1428733 COSM1428734 CA2810674 rs773089715	669	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA355982911 rs1577292429	670	V>I		No	ClinGen Ensembl
rs751098892 CA2810677	673	H>Q		No	ClinGen ExAC gnomAD
rs751098892 CA355982978	673	H>Q		No	ClinGen ExAC gnomAD
CA2810676 rs747364567	673	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA355983001 rs1191383182	675	S>T		No	ClinGen TOPMed
CA355983032 rs1426369141 COSM178247	677	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2810709 rs769602256	679	S>A		No	ClinGen ExAC gnomAD
rs1260819324 CA355983232	679	S>F		No	ClinGen gnomAD
rs1400007218 CA355983357	684	L>F		No	ClinGen TOPMed
rs759229319 CA2810714	687	I>V		No	ClinGen ExAC gnomAD
COSM1237784 CA355983467 rs1455074121 COSM1237785	689	T>M	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA355983543 rs1416996266	692	G>A		No	ClinGen TOPMed
CA2810717 rs760292339	693	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1577293392 CA355983621	695	Y>S		No	ClinGen Ensembl
CA355983867 rs1260127924	702	E>D		No	ClinGen TOPMed gnomAD
rs1325547001 CA355983845	702	E>K		No	ClinGen gnomAD
rs376497115 CA91257951	704	F>L		No	ClinGen ESP TOPMed
CA2810723 rs369813768	705	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs867813931 CA91257976	708	K>E		No	ClinGen Ensembl
CA355984018 rs1188115588	708	K>T		No	ClinGen gnomAD
CA2810725 rs755133781	709	E>G		No	ClinGen ExAC TOPMed gnomAD
rs755495007 CA2810724	709	E>K		No	ClinGen ExAC gnomAD
rs755495007 CA355984045	709	E>Q		No	ClinGen ExAC gnomAD
CA156297 rs104886023	710	G>V		No	ClinGen Ensembl
CA355984104 rs1430826425	711	H>Y		No	ClinGen gnomAD
rs104886024 CA156301	712	R>H		No	ClinGen Ensembl
VAR_022170 CA159722 rs17882190	717	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749192018 CA2810729	717	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV000121082 CA159719 rs587778358	718	N>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs139773438 CA2810730	718	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139773438 CA355984325	718	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2810731 rs745674688	719	C>*		No	ClinGen ExAC gnomAD
CA91258056 rs371088132	721	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1283465541 CA355984496	723	L>V		No	ClinGen gnomAD
rs1174386131 CA355984710	724	Y>N		No	ClinGen gnomAD
CA91258221 rs377402598	725	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810769 rs377402598	725	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1033107998 CA91258207	725	M>L		No	ClinGen TOPMed gnomAD
CA355984729 rs1033107998	725	M>V		No	ClinGen TOPMed gnomAD
CA91258226 rs17880763 VAR_022171	726	I>F		No	ClinGen UniProt Ensembl dbSNP
CA355984798 rs1338664944	727	M>I		No	ClinGen gnomAD
rs149924317 CA2810770	728	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA355984805 rs1324442896	728	R>W		No	ClinGen gnomAD
rs1041362183 CA91258241	729	E>Q		No	ClinGen TOPMed
CA91258242 rs915913366	732	H>R		No	ClinGen TOPMed gnomAD
CA2810772 rs188849608	734	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810773 rs555257146	734	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355985067 rs1323405769	735	P>S		No	ClinGen gnomAD
rs148631462 CA2810775	736	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218547097 CA355985154	737	Q>*		No	ClinGen TOPMed
CA2810776 rs536212792	737	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1476525477 CA355985261	739	P>A		No	ClinGen TOPMed gnomAD
CA355985264 rs1197312212	739	P>H		No	ClinGen gnomAD
rs1476525477 CA355985256	739	P>S		No	ClinGen TOPMed gnomAD
rs768999235 CA2810780	741	F>C		No	ClinGen ExAC TOPMed gnomAD
rs768999235 CA355985353	741	F>S		No	ClinGen ExAC TOPMed gnomAD
rs777034307 CA2810781	742	K>Q		No	ClinGen ExAC gnomAD
CA355985406 rs1399826020	743	Q>L		No	ClinGen gnomAD
rs1399826020 CA355985405	743	Q>R		No	ClinGen gnomAD
rs1346552046 CA355985432	744	L>V		No	ClinGen gnomAD
CA2810784 rs750501941 COSM397264	750	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs762888506 CA2810785	750	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762888506 CA355985711	750	R>L		No	ClinGen ExAC TOPMed gnomAD
CA91258306 rs1016431267	751	V>I		No	ClinGen TOPMed gnomAD
rs1220505525 CA355985907	753	T>I		No	ClinGen gnomAD
rs373425119 CA2810789	754	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810790 rs752294041	755	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1201092702 CA355985987	755	T>S		No	ClinGen gnomAD
rs748763892 RCV000605679 CA2810793	757	T>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2810796 rs747369218	758	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2810795 rs56266857	758	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810822 rs774517056	763	L>V		No	ClinGen ExAC gnomAD
rs759398915 CA2810823	764	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2810826 rs140211846	765	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763774428 CA2810827	766	P>L		No	ClinGen ExAC TOPMed gnomAD
CA355987474 rs560280646	768	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810829 rs560280646	768	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560280646 CA355987475	768	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182454047 CA355987491	769	Q>*		No	ClinGen TOPMed
rs367757357 CA090902	770	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2810830 rs764614806	770	Y>C		No	ClinGen ExAC gnomAD
CA355987511 rs764614806	770	Y>F		No	ClinGen ExAC gnomAD
rs1280388030 CA355987505	770	Y>H		No	ClinGen gnomAD
CA355987519 rs1283769193	771	S>A		No	ClinGen gnomAD
rs755526507 CA2810831	771	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2810832 rs755526507	771	S>F		No	ClinGen ExAC TOPMed gnomAD
rs748492376 CA2810833	772	P>A		No	ClinGen ExAC gnomAD
CA2810834 rs756484252	772	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2810835 rs756484252	772	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs748492376 CA355987527	772	P>S		No	ClinGen ExAC gnomAD
rs773197447 CA2810839	773	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2810838 rs773197447	773	G>D		No	ClinGen ExAC TOPMed gnomAD
CA355987536 rs1218319341	773	G>S		No	ClinGen gnomAD
rs1479823429 CA355987551	774	G>D		No	ClinGen gnomAD
CA355987564 rs1199518187	775	Q>R		No	ClinGen gnomAD
rs1435446706 CA355987578	776	D>G		No	ClinGen gnomAD
CA2810840 rs771994959	776	D>Y		No	ClinGen ExAC gnomAD
CA355987591 rs1157326222	777	T>A		No	ClinGen gnomAD
CA2810841 rs775451126	777	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2810842 rs775451126	777	T>N		No	ClinGen ExAC TOPMed gnomAD
rs775451126 CA91259517	777	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1300271691 CA355987607	778	P>R		No	ClinGen TOPMed gnomAD
CA2810845 rs140616343	780	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764958279 CA2810846	781	S>N		No	ClinGen ExAC gnomAD
CA355987661 rs1369586843	782	S>F		No	ClinGen gnomAD
rs1242141310 CA355987692	784	G>E		No	ClinGen gnomAD
rs531915147 CA2810849	784	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2810850 rs768114770	785	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA355987727 rs1247982827	786	D>E		No	ClinGen gnomAD
CA2810853 rs548817695	786	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2810852 rs548817695	786	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1174982652 CA355987737	787	S>C		No	ClinGen TOPMed gnomAD
CA355987733 rs1255727235	787	S>P		No	ClinGen TOPMed
rs371433215 CA355987747	788	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371433215 CA2810855	788	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs868538559 CA91259578	790	A>V		No	ClinGen Ensembl
rs576131994 CA91259594	791	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1057518205 RCV000414572	792	D>missing		No	ClinVar dbSNP
rs376043260 CA2810857	792	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs772193113 CA2810858	794	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1440189215 CA355987839	795	P>H		No	ClinGen gnomAD
rs1440189215 CA355987841	795	P>R		No	ClinGen gnomAD
CA2810861 rs768644781	796	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2810862 rs768644781	796	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2810860 rs746909556	796	P>S		No	ClinGen ExAC
CA355987858 rs1312674634	797	A>T		No	ClinGen gnomAD
rs1354467074 CA355987874	798	P>S		No	ClinGen TOPMed gnomAD
rs150452037 CA2810865	799	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232751068 CA355987929	802	G>E		No	ClinGen gnomAD
RCV000479750 rs1064796266	803	G>P		No	ClinVar dbSNP
CA355987939 rs1458621673	803	G>S		No	ClinGen gnomAD
rs751115449 CA2810868	804	S>L		No	ClinGen ExAC gnomAD
rs754152095 CA2810871	805	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2810870 rs369758941	805	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355987985 rs374547489	806	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374547489 COSM1428743 CA2810872 COSM1428742	806	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs397515514 CA344894	807	T>L		No	ClinGen Ensembl

15 associated diseases with P22607

[MIM: 100800]: Achondroplasia (ACH)

A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:12297284, ECO:0000269|PubMed:7758520, ECO:0000269|PubMed:7847369, ECO:0000269|PubMed:8078586, ECO:0000269|PubMed:8599935}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 612247]: Crouzon syndrome with acanthosis nigricans (CAN)

Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. {ECO:0000269|PubMed:17935505, ECO:0000269|PubMed:7493034}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 187600]: Thanatophoric dysplasia 1 (TD1)

A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10671061, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9790257}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 187601]: Thanatophoric dysplasia 2 (TD2)

A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. {ECO:0000269|PubMed:12297284, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8754806}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 146000]: Hypochondroplasia (HCH)

Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. {ECO:0000269|PubMed:10215410, ECO:0000269|PubMed:10777366, ECO:0000269|PubMed:11055896, ECO:0000269|PubMed:12707965, ECO:0000269|PubMed:7670477, ECO:0000269|PubMed:9452043}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 109800]: Bladder cancer (BLC)

A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:11314002}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Somatic mutations can constitutively activate FGFR3.

[MIM: 603956]: Cervical cancer (CERCA)

A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. {ECO:0000269|PubMed:10471491}. Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 610474]: Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS)

An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. {ECO:0000269|PubMed:17033969}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 254500]: Multiple myeloma (MM)

A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:11529856, ECO:0000269|PubMed:9207791}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving FGFR3 is found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus.

[MIM: 149730]: Lacrimo-auriculo-dento-digital syndrome (LADDS)

An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. {ECO:0000269|PubMed:16501574}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 162900]: Keratinocytic non-epidermolytic nevus (KNEN)

Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. {ECO:0000269|PubMed:16841094}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 602849]: Muenke syndrome (MNKS)

A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, intellectual disability and respiratory insufficiency. {ECO:0000269|PubMed:11746040, ECO:0000269|PubMed:9042914, ECO:0000269|PubMed:9950359}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 182000]: Keratosis, seborrheic (KERSEB)

A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269|PubMed:15772091}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 273300]: Testicular germ cell tumor (TGCT)

A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including

[MIM: 616482]: Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN)

A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases. {ECO:0000269|PubMed:10053006}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:12297284, ECO:0000269|PubMed:7758520, ECO:0000269|PubMed:7847369, ECO:0000269|PubMed:8078586, ECO:0000269|PubMed:8599935}. Note=The disease is caused by variants affecting the gene represented in this entry.
Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. {ECO:0000269|PubMed:17935505, ECO:0000269|PubMed:7493034}. Note=The disease is caused by variants affecting the gene represented in this entry.
A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10671061, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9790257}. Note=The disease is caused by variants affecting the gene represented in this entry.
A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. {ECO:0000269|PubMed:12297284, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8754806}. Note=The disease is caused by variants affecting the gene represented in this entry.
Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. {ECO:0000269|PubMed:10215410, ECO:0000269|PubMed:10777366, ECO:0000269|PubMed:11055896, ECO:0000269|PubMed:12707965, ECO:0000269|PubMed:7670477, ECO:0000269|PubMed:9452043}. Note=The disease is caused by variants affecting the gene represented in this entry.
A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:11314002}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Somatic mutations can constitutively activate FGFR3.
A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. {ECO:0000269|PubMed:10471491}. Note=The gene represented in this entry is involved in disease pathogenesis.
An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. {ECO:0000269|PubMed:17033969}. Note=The disease is caused by variants affecting the gene represented in this entry.
A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:11529856, ECO:0000269|PubMed:9207791}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving FGFR3 is found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus.
An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. {ECO:0000269|PubMed:16501574}. Note=The disease is caused by variants affecting the gene represented in this entry.
Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. {ECO:0000269|PubMed:16841094}. Note=The disease is caused by variants affecting the gene represented in this entry.
A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, intellectual disability and respiratory insufficiency. {ECO:0000269|PubMed:11746040, ECO:0000269|PubMed:9042914, ECO:0000269|PubMed:9950359}. Note=The disease is caused by variants affecting the gene represented in this entry.
A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269|PubMed:15772091}. Note=The disease is caused by variants affecting the gene represented in this entry.
A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including
A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases. {ECO:0000269|PubMed:10053006}. Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for P22607

Type	Name	Position	InterPro Accession
domain	Ras-like guanine nucleotide exchange factor, N-terminal	48 - 173	IPR000651
domain	Ras guanine-nucleotide exchange factors catalytic domain	197 - 433	IPR001895
domain	EF-hand domain	466 - 517	IPR002048
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	537 - 589	IPR002219
binding_site	EF-Hand 1, calcium-binding site	479 - 491	IPR018247-1
binding_site	EF-Hand 1, calcium-binding site	506 - 518	IPR018247-2
domain	Diacylglycerol/phorbol-ester binding	535 - 549	IPR020454-1
domain	Diacylglycerol/phorbol-ester binding	551 - 560	IPR020454-2
domain	Diacylglycerol/phorbol-ester binding	564 - 575	IPR020454-3
domain	Diacylglycerol/phorbol-ester binding	576 - 588	IPR020454-4

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	[Isoform 1]: Cell membrane; Single-pass type I membrane protein Cytoplasmic vesicle Endoplasmic reticulum	The activated receptor is rapidly internalized and degraded Detected in intracellular vesicles after internalization of the autophosphorylated receptor
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF505	FIBROBLAST GROWTH FACTOR RECEPTOR 3
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	FGF signaling pathway FGFR1-4

9 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
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.
transport vesicle	Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
fibroblast growth factor binding	Binding to a fibroblast growth factor.
fibroblast growth factor-activated receptor activity	Combining with a fibroblast growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
identical protein binding	Binding to an identical protein or proteins.
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.
protein tyrosine kinase activity	Catalysis of the reaction: 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.

23 GO annotations of biological process

Name	Definition
bone maturation	A developmental process, independent of morphogenetic (shape) change, that is required for bone to attain its fully functional state.
bone mineralization	The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue.
bone morphogenesis	The process in which bones are generated and organized.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
chondrocyte differentiation	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage.
chondrocyte proliferation	The multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage.
endochondral bone growth	The increase in size or mass of an endochondral bone that contributes to the shaping of the bone.
endochondral ossification	Replacement ossification wherein bone tissue replaces cartilage.
fibroblast growth factor receptor apoptotic signaling pathway	An apoptotic signaling pathway that starts with a ligand binding to, or being withdrawn from, a fibroblast growth factor receptor (FGFR).
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
negative regulation of developmental growth	Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
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 MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phospholipase activity	Any process that increases the frequency, rate or extent of phospholipase activity, the hydrolysis of a phospholipid.
positive regulation of tyrosine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
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.

100 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
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
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	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
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
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
Q12866	MERTK	Tyrosine-protein kinase Mer	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
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
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
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8X3	fgfr3	Fibroblast growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MGAPACALAL	CVAVAIVAGA	SSESLGTEQR	VVGRAAEVPG	PEPGQQEQLV	FGSGDAVELS
70	80	90	100	110	120
CPPPGGGPMG	PTVWVKDGTG	LVPSERVLVG	PQRLQVLNAS	HEDSGAYSCR	QRLTQRVLCH
130	140	150	160	170	180
FSVRVTDAPS	SGDDEDGEDE	AEDTGVDTGA	PYWTRPERMD	KKLLAVPAAN	TVRFRCPAAG
190	200	210	220	230	240
NPTPSISWLK	NGREFRGEHR	IGGIKLRHQQ	WSLVMESVVP	SDRGNYTCVV	ENKFGSIRQT
250	260	270	280	290	300
YTLDVLERSP	HRPILQAGLP	ANQTAVLGSD	VEFHCKVYSD	AQPHIQWLKH	VEVNGSKVGP
310	320	330	340	350	360
DGTPYVTVLK	TAGANTTDKE	LEVLSLHNVT	FEDAGEYTCL	AGNSIGFSHH	SAWLVVLPAE
370	380	390	400	410	420
EELVEADEAG	SVYAGILSYG	VGFFLFILVV	AAVTLCRLRS	PPKKGLGSPT	VHKISRFPLK
430	440	450	460	470	480
RQVSLESNAS	MSSNTPLVRI	ARLSSGEGPT	LANVSELELP	ADPKWELSRA	RLTLGKPLGE
490	500	510	520	530	540
GCFGQVVMAE	AIGIDKDRAA	KPVTVAVKML	KDDATDKDLS	DLVSEMEMMK	MIGKHKNIIN
550	560	570	580	590	600
LLGACTQGGP	LYVLVEYAAK	GNLREFLRAR	RPPGLDYSFD	TCKPPEEQLT	FKDLVSCAYQ
610	620	630	640	650	660
VARGMEYLAS	QKCIHRDLAA	RNVLVTEDNV	MKIADFGLAR	DVHNLDYYKK	TTNGRLPVKW
670	680	690	700	710	720
MAPEALFDRV	YTHQSDVWSF	GVLLWEIFTL	GGSPYPGIPV	EELFKLLKEG	HRMDKPANCT
730	740	750	760	770	780
HDLYMIMREC	WHAAPSQRPT	FKQLVEDLDR	VLTVTSTDEY	LDLSAPFEQY	SPGGQDTPSS
790	800
SSSGDDSVFA	HDLLPPAPPS	SGGSRT