AiPD: Autoinhibited Protein Database

P08069

Gene name	IGF1R
Protein name	Insulin-like growth factor 1 receptor
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3480
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Insulin-like growth factor 1 receptor(IGF-I receptor). The JM(juxtamembrane) region of the human insulin-like growth factor I receptor (IGF1R) plays a role in kinase regulation. The JM region is involved in regulating IGF1R activity by inhibiting the autophosphorylation activity of the kinase. The JM region of IGF1R also plays an important role in limiting the basal activity of the receptor.

Autoinhibitory domains (AIDs)

Target domain	999-1274 (Protein kinase domain)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

930-961 (Juxtamembrane domain)

Target domain

999-1274 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Mutagenesis experiment

Accessory elements

1152-1177 (Activation loop from InterPro)

Target domain	999-1274 (Protein kinase domain)
Relief mechanism
Assay

References

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

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,

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

Autoinhibited structure

Activated structure

46 structures for P08069

Entry ID	Method	Resolution	Chain	Position	Source
1IGR	X-ray	260 A	A	31-492	PDB
1JQH	X-ray	210 A	A/B/C	979-1286	PDB
1K3A	X-ray	210 A	A	988-1286	PDB
1M7N	X-ray	270 A	A/B	974-1294	PDB
1P4O	X-ray	150 A	A/B	974-1294	PDB
2OJ9	X-ray	200 A	A	982-1286	PDB
2ZM3	X-ray	250 A	A/B/C/D	981-1286	PDB
3D94	X-ray	230 A	A	986-1286	PDB
3F5P	X-ray	290 A	A/B/C/D/E/F/G/H/I/J/K/L/M/R/S/T	981-1286	PDB
3I81	X-ray	208 A	A	982-1286	PDB
3LVP	X-ray	300 A	A/B/C/D	951-1286	PDB
3LW0	X-ray	179 A	A/B/C/D	983-1286	PDB
3NW5	X-ray	214 A	A	982-1286	PDB
3NW6	X-ray	220 A	A	982-1286	PDB
3NW7	X-ray	211 A	A	982-1286	PDB
3O23	X-ray	210 A	A	982-1286	PDB
3QQU	X-ray	290 A	A/B/C/D	988-1286	PDB
4D2R	X-ray	210 A	A	985-1286	PDB
4XSS	X-ray	300 A	F	721-736	PDB
5FXQ	X-ray	230 A	A	980-1286	PDB
5FXR	X-ray	240 A	A	980-1286	PDB
5FXS	X-ray	190 A	A	980-1286	PDB
5HZN	X-ray	220 A	A/B/C/D/E/F/G/H	983-1286	PDB
5U8Q	X-ray	327 A	A	31-935	PDB
5U8R	X-ray	300 A	A	31-935	PDB
6JK8	EM	470 A	A/B	1-1367	PDB
6VWG	EM	321 A	A/B	31-935	PDB
6VWH	EM	426 A	A/B	31-935	PDB
6VWI	EM	370 A	A/B	31-935	PDB
6VWJ	EM	421 A	A/B	31-935	PDB
7PH8	NMR	-	A	932-962	PDB
7S0Q	EM	370 A	A	31-935	PDB
7S8V	EM	373 A	A	31-935	PDB
7U23	EM	460 A	E/F	31-935	PDB
7V3P	EM	360 A	A/B	1-931	PDB
7XGD	EM	400 A	A/B	31-927	PDB
7XLC	EM	500 A	A/B	31-927	PDB
7YRR	EM	430 A	A/B	31-927	PDB
8PYI	X-ray	306 A	AAA/BBB/CCC/DDD/EEE/FFF/GGG/HHH	973-1286	PDB
8PYJ	X-ray	270 A	AAA	973-1286	PDB
8PYK	X-ray	223 A	AAA	973-1286	PDB
8PYL	X-ray	293 A	AAA	973-1286	PDB
8PYM	X-ray	265 A	AAA	973-1286	PDB
8PYN	X-ray	171 A	AAA	973-1286	PDB
8TAN	EM	305 A	A/B	31-935	PDB
AF-P08069-F1	Predicted				AlphaFoldDB

945 variants for P08069

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs770977775 CA7751704 RCV001253565	15	G>R	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA275806472 rs1013771934 RCV001249834	24	S>L	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1596214066 CA393696572 RCV000852351	40	R>C	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1409058783 CA393696573 RCV000516171	40	R>L	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1235094252 CA393696830 RCV001331399	79	T>M	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA124311 RCV000015915 rs121912428	89	R>*	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001260738 rs2053900874	101	P>L	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs1555434208 CA393697104 RCV000516173	121	E>K	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA124307 VAR_034891 RCV000015913 rs121912426	138	R>Q	Growth delay due to insulin-like growth factor I resistance IGF1RES; has decreased IGF1R function [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_034892 rs121912427 CA124309 RCV000015914	145	K>N	Growth delay due to insulin-like growth factor I resistance IGF1RES; has decreased IGF1R function [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001115875 rs774104340 CA275819436	153	S>T	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs144739747 RCV000175644 CA241372 RCV001117329	190	P>S	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1596214904 RCV000984628	194	K>missing	Craniosynostosis syndrome [ClinVar]	Yes	ClinVar dbSNP
CA7751825 RCV001117330 rs145668206	202	N>S	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1253103806 RCV000516167 CA393664994	234	E>K	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001331402 CA393665224 rs1297968262	246	T>M	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs144675711 RCV001331403 RCV000598254 CA7751921	284	N>Y	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000280829 rs886051559 CA10636702	299	H>Y	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000852353 CA393667082 rs774794966	302	E>*	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA393670853 RCV000852354 rs1596409872	332	C>Y	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2014371478 RCV001249350	400	S>F	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
rs117440569 RCV000883793 RCV000352493 RCV001118945 CA7752073	446	M>V	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7752115 RCV000403167 rs146408770	500	T>M	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000015917 CA124316 rs33958176 VAR_034894 RCV000487894	511	R>Q	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7752123 rs760388654 RCV001120908	513	R>W	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001115984 rs148974751 CA7752169	560	K>R	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001293682 rs2015098252	578	A>T	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
RCV001331396 CA275379494 rs927339129	588	M>V	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7752193 RCV000371429 RCV001115985 VAR_041425 rs56248469	595	R>H	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393679670 RCV000493390 rs1131691583 RCV000844968	621	S>L	IGF1R-Related Disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10647542 RCV000273028 rs886051560	623	S>C	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1555460702 RCV000623660 CA393679822	644	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002069868 RCV001115987 CA7752253 rs45451896	659	R>Q	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000364180 rs758609703 CA7752279	675	D>N	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200059469 CA7752284 RCV001331398	681	E>G	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7752292 RCV000660422 rs201631492	701	A>T	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000516174 rs1555460945 CA393680456	734	R>I	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA124314 rs121912429 VAR_034895 RCV000015916	739	R>Q	IGF1RES; leads to failure of processing of the IGF1R proreceptor to mature IGF1R Growth delay due to insulin-like growth factor I resistance [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs762821234 CA275384265 RCV001117442	748	T>S	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001255347 rs1173681603 RCV001262461	753	R>*	Intellectual disability Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
CA275384274 RCV001281513 rs987303175	753	R>Q	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs750036855 RCV000323949 CA7752386	801	I>V	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001117444 rs149217017 RCV000735124 RCV000909040 CA7752428	853	P>L	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393682374 RCV000984931 rs1596457264	914	G>E	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000906868 rs45493995 RCV001119042 CA7752565	965	S>N	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000624515 rs1555463008	969	N>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA393683047 RCV000623752 rs1555463013	978	P>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs755751237 CA7752597 RCV000374921	997	E>K	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA393658570 RCV000852356 rs1596468719	1054	M>I	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10647545 rs886051561 RCV000336465	1105	A>V	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7752663 RCV001253726 rs753856067	1122	G>S	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000497309 rs1322503729 RCV000624750	1123	M>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000852357 rs1596472892 CA393660275	1152	G>R	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000791314 CA393661313 rs1596476061	1155	G>D	NK-cell enteropathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2016419800 RCV001253527	1158	R>Q	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
RCV000624613 rs1238271705 CA393661572	1176	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1596476159 RCV000852359 CA393661586 RCV001267278	1177	R>H	Growth delay due to insulin-like growth factor I resistance Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000852358 CA393661625 rs1596476163	1180	S>Y	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001334595 CA275328590 rs984389991	1216	L>F	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs149148921 RCV001116095	1255	M>L	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
RCV001196521 rs2017024063	1270	M>missing	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinVar dbSNP
CA7752803 rs757277080 RCV001116096	1282	S>N	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746049391 RCV001116097 CA7752807	1284	E>D	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001116098 rs760362276 CA7752816	1290	P>L	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7752829 rs542567372 RCV000733048 RCV000296827	1309	A>T	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs775531453 CA7752841 RCV000349125	1317	P>R	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001117535 CA7752854 rs531850849	1328	G>S	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA242039 rs141802822 VAR_076250 RCV001117536 RCV000176166	1337	R>C	Growth delay due to insulin-like growth factor I resistance IGF1RES; unknown pathological significance; significant decrease in IGF1-induced DNA synthesis; significant increase in IGF1-induced AKT1 phosphorylation in patient fibroblasts [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745531890 CA7752872 RCV000392311	1343	R>I	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7752877 RCV000366630 rs774314535	1349	M>V	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001119131 rs149470389 CA242045 RCV000176168	1353	R>H	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746562843 RCV001331401 CA275332989	1356	E>K	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000404718 CA7752886 rs143940675	1357	R>W	Growth delay due to insulin-like growth factor I resistance [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7752896 rs773129173 RCV000623642 RCV000392288	1366	T>P	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA393696332 rs1208103680	2	K>R		No	ClinGen gnomAD
CA7751693 rs577151797	3	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7751692 rs577151797	3	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA393696344 rs1485971955	4	G>A		No	ClinGen gnomAD
rs1218392148 CA393696351	5	S>F		No	ClinGen TOPMed
CA7751695 rs199652097	6	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780700596 CA7751696	7	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7751697 rs745454926	8	G>R		No	ClinGen ExAC gnomAD
rs755731481 CA7751698	9	S>C		No	ClinGen ExAC TOPMed gnomAD
CA393696370 rs755731481	9	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA7751700 rs749124908	10	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7751701 rs749124908	10	P>R		No	ClinGen ExAC TOPMed gnomAD
rs530243293 CA7751699	10	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs774479139 CA7751702	12	S>L		No	ClinGen ExAC TOPMed gnomAD
CA393696385 rs774479139	12	S>W		No	ClinGen ExAC TOPMed gnomAD
CA7751703 rs747046726	13	L>Q		No	ClinGen ExAC gnomAD
CA393696395 rs1432652561	14	W>L		No	ClinGen TOPMed
rs1330182200 CA393696409	16	L>R		No	ClinGen gnomAD
rs1305148947 CA393696422	18	F>L		No	ClinGen gnomAD
CA7751707 rs765477320	19	L>F		No	ClinGen ExAC TOPMed gnomAD
CA393696424 rs765477320	19	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7751709 rs367826969	20	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs775802966 CA7751708	20	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7751710 rs764574675	21	A>V		No	ClinGen ExAC gnomAD
CA275806471 rs1013771934	24	S>W		No	ClinGen TOPMed gnomAD
CA7751713 rs766990743	25	L>V		No	ClinGen ExAC gnomAD
CA7751715 rs755785074	26	W>C		No	ClinGen ExAC TOPMed gnomAD
CA393696460 rs1371247485	26	W>R		No	ClinGen Ensembl
rs779890447 CA275806475	27	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779890447 CA7751716	27	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA393696468 rs779890447	27	P>R		No	ClinGen ExAC TOPMed gnomAD
rs866214308 CA275806474	27	P>S		No	ClinGen gnomAD
CA393696473 rs1327580928	28	T>R		No	ClinGen gnomAD
rs758327569 CA393696528	33	C>W		No	ClinGen ExAC TOPMed gnomAD
CA393696574 rs1409058783	40	R>H		No	ClinGen TOPMed
CA7751745 rs745938800	43	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7751746 rs145090260	45	Q>*		No	ClinGen ESP ExAC gnomAD
rs780116299 CA7751747	45	Q>L		No	ClinGen ExAC gnomAD
rs1339640950 CA393696617	46	L>P		No	ClinGen gnomAD
CA7751749 rs138973619	48	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774734018 CA7751750	48	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393696629 rs774734018	48	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7751752 rs772608351	53	T>M		No	ClinGen ExAC gnomAD
CA275819353 rs371790321	53	T>S		No	ClinGen ESP
rs1596214145 CA393696667	54	V>G		No	ClinGen Ensembl
CA393696693 rs1596214176	58	Y>S		No	ClinGen Ensembl
rs753422286 CA7751756	60	H>Y		No	ClinGen ExAC gnomAD
CA7751758 rs372975602	64	I>V		No	ClinGen ESP ExAC gnomAD
CA7751760 rs200131538	66	K>E		No	ClinGen 1000Genomes ExAC TOPMed
CA7751761 rs777765504	67	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757195696 CA7751763	68	E>K		No	ClinGen ExAC gnomAD
CA393696763 rs1344519980	69	D>A		No	ClinGen gnomAD
CA393696764 rs1344519980	69	D>G		No	ClinGen gnomAD
rs1567086831 CA393696773	70	Y>F		No	ClinGen Ensembl
rs1567086828 CA393696769	70	Y>H		No	ClinGen Ensembl
CA393696771 rs1567086831	70	Y>S		No	ClinGen Ensembl
CA275819373 rs987207559	71	R>C		No	ClinGen TOPMed gnomAD
rs780055504 CA7751764	71	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749397555 CA393696784	72	S>I		No	ClinGen ExAC gnomAD
rs749397555 CA7751765	72	S>N		No	ClinGen ExAC gnomAD
CA7751766 rs557275352	74	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1292080642 CA393696797	74	R>H		No	ClinGen TOPMed gnomAD
CA7751768 rs748531654	77	K>R		No	ClinGen ExAC gnomAD
rs1243007016 CA393696865	84	Y>C		No	ClinGen gnomAD
rs1455239044 CA393696894	89	R>Q		No	ClinGen gnomAD
CA393696901 rs1173656358	90	V>A		No	ClinGen gnomAD
CA393696906 rs1420645973	91	A>G		No	ClinGen TOPMed
CA7751773 rs776250673	94	E>K		No	ClinGen ExAC gnomAD
rs1324200889 CA393696953	98	D>V		No	ClinGen gnomAD
rs1460703226 CA393696948	98	D>Y		No	ClinGen gnomAD
CA393696982 rs1446546249	102	N>K		No	ClinGen gnomAD
rs1335469497 CA393696995	104	T>M		No	ClinGen TOPMed
rs375153085 CA275819396	107	R>C		No	ClinGen ESP
rs763743119 CA7751778	107	R>H		No	ClinGen ExAC gnomAD
RCV000478317 rs1064793151	108	G>missing		No	ClinVar dbSNP
CA393697023 rs1226025059	109	W>S		No	ClinGen gnomAD
rs1285537503 CA393697037	111	L>V		No	ClinGen gnomAD
CA275819403 rs757142695	117	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7751781 rs767480080	119	I>V		No	ClinGen ExAC gnomAD
rs1555434205 RCV000522425 CA393697098	120	F>V		No	ClinGen ClinVar Ensembl dbSNP
CA7751785 rs748252733	124	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1436887637 CA393697148	127	D>N		No	ClinGen TOPMed
CA7751786 rs758659893	128	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778243153 CA7751787	134	R>K		No	ClinGen ExAC gnomAD
CA275819414 rs35385418	134	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393697210 rs1461511983	136	I>V		No	ClinGen TOPMed
CA393697220 rs1161811268	137	T>I		No	ClinGen gnomAD
rs121912426 CA7751791	138	R>L		No	ClinGen ExAC gnomAD
rs867511424 CA275819415	138	R>W		No	ClinGen Ensembl
RCV000728990 rs746570875	140	A>missing		No	ClinVar dbSNP
CA393697229 rs1395959031	140	A>T		No	ClinGen TOPMed
rs926370406 CA275819421	140	A>V		No	ClinGen TOPMed
rs147267535 CA393697248	143	I>F		No	ClinGen ESP TOPMed
CA275819424 rs147267535	143	I>V		No	ClinGen ESP TOPMed
rs769115447 CA7751794	148	D>N		No	ClinGen ExAC gnomAD
rs774104340 CA7751798	153	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7751799 rs761647334	153	S>F		No	ClinGen ExAC gnomAD
rs945004034 CA275819440	154	T>A		No	ClinGen Ensembl
CA275819442 rs867336086	159	L>P		No	ClinGen Ensembl
CA7751802 rs182472366	163	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182472366 CA7751801	163	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1205931489 CA393697386	164	V>E		No	ClinGen gnomAD
CA7751806 rs778188308	165	S>F		No	ClinGen ExAC gnomAD
rs757760452 CA7751808	170	V>A		No	ClinGen ExAC gnomAD
rs1419820249 CA393697427	170	V>L		No	ClinGen gnomAD
CA393697442 rs1411744966	172	N>K		No	ClinGen gnomAD
CA393697465 rs1413424650	176	K>E		No	ClinGen gnomAD
CA393697497 rs1596214794	180	D>A		No	ClinGen Ensembl
CA7751813 rs748873108	181	L>P		No	ClinGen ExAC gnomAD
CA393697527 rs1274664555	185	T>A		No	ClinGen TOPMed gnomAD
CA7751815 rs371283551	185	T>I		No	ClinGen ESP ExAC gnomAD
CA393697536 rs1596214839	186	M>R		No	ClinGen Ensembl
CA393697532 rs1208686858	186	M>V		No	ClinGen gnomAD
rs761593937 CA7751816	188	E>G		No	ClinGen ExAC gnomAD
rs760481311 CA7751818	190	P>L		No	ClinGen ExAC TOPMed gnomAD
CA393697572 rs1168593175	191	M>K		No	ClinGen gnomAD
rs1394608159 CA393697584	193	E>K		No	ClinGen gnomAD
rs1176158268 CA393697606	196	T>A		No	ClinGen gnomAD
CA7751823 rs149734961	197	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA393697622 rs1316625657	198	N>S		No	ClinGen gnomAD
CA7751824 rs757563952	199	N>Y		No	ClinGen ExAC
CA393697645 rs1567087300	201	Y>C		No	ClinGen Ensembl
CA275819481 rs756551779	203	Y>*		No	ClinGen ExAC gnomAD
rs1027569659 CA275819484	204	R>C		No	ClinGen TOPMed
rs780662571 CA7751828	204	R>H		No	ClinGen ExAC gnomAD
rs1282401650 CA393697685	207	T>A		No	ClinGen gnomAD
rs375616425 CA275819488	208	T>A		No	ClinGen ESP TOPMed gnomAD
rs1198227688 CA393697696	209	N>D		No	ClinGen TOPMed
CA393697703 rs1345546886	210	R>C		No	ClinGen TOPMed gnomAD
CA7751829 rs748737109	210	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393697705 rs1345546886	210	R>S		No	ClinGen TOPMed gnomAD
rs1253291391 CA393664592	214	M>T		No	ClinGen gnomAD
CA275353195 rs950258270	217	S>N		No	ClinGen Ensembl
CA7751865 rs773552392	218	T>M		No	ClinGen ExAC gnomAD
rs767622886 CA7751864	218	T>S		No	ClinGen ExAC gnomAD
rs1450024004 CA393664708	220	G>R		No	ClinGen Ensembl
rs199789940 CA7751869	222	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7751867 rs70958401	222	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1461059080 CA393664776	223	A>V		No	ClinGen gnomAD
rs765782064 CA7751870	224	C>G		No	ClinGen ExAC gnomAD
rs752189789 CA7751871	226	E>K		No	ClinGen ExAC TOPMed gnomAD
rs554921245 CA7751874	228	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7751872 rs757968524	228	N>S		No	ClinGen ExAC gnomAD
rs1481088368 CA393664981	233	P>L		No	ClinGen gnomAD
CA393664978 rs1307066736	233	P>S		No	ClinGen TOPMed gnomAD
rs1253103806 CA393664996	234	E>Q		No	ClinGen gnomAD
rs745693339 CA7751877	236	L>Q		No	ClinGen ExAC gnomAD
CA7751876 rs780997442	236	L>V		No	ClinGen ExAC gnomAD
rs775630539 CA7751879	241	A>T		No	ClinGen ExAC TOPMed gnomAD
rs148823172 CA7751880	241	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA393665158 rs1167847839	242	P>A		No	ClinGen gnomAD
CA7751884 rs771089860	243	D>E		No	ClinGen ExAC gnomAD
rs142528634 CA7751883	243	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7751885 rs776949673	244	N>D		No	ClinGen ExAC TOPMed gnomAD
rs146427969 CA7751886	244	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393665203 rs1361006800	245	D>E		No	ClinGen TOPMed
rs1361565953 CA393665192	245	D>N		No	ClinGen TOPMed gnomAD
CA7751888 rs753134217	246	T>A		No	ClinGen ExAC TOPMed gnomAD
CA393665226 rs1233649195	247	A>T		No	ClinGen gnomAD
rs375391097 CA7751890	252	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7751891 rs751059746	252	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751059746 CA393665359	252	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1567180618 CA393665381	253	H>P		No	ClinGen Ensembl
rs1567180618 CA393665384	253	H>R		No	ClinGen Ensembl
CA7751892 rs368066914	256	Y>C		No	ClinGen ESP ExAC gnomAD
rs577508225 CA7751894	257	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7751893 rs577508225	257	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543792941 CA7751897	258	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393665580 rs1484012587	259	V>I		No	ClinGen TOPMed
rs771538996 CA275353411	262	P>R		No	ClinGen Ensembl
rs747099881 CA7751900	262	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7751901 rs375677658	263	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776904690 CA7751902	265	P>L		No	ClinGen ExAC gnomAD
CA7751907 rs200681134	267	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7751906 rs200681134	267	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs774941760 CA275353477	270	R>K		No	ClinGen ExAC gnomAD
rs774941760 CA7751910	270	R>T		No	ClinGen ExAC gnomAD
CA393665917 rs1375960954	271	F>I		No	ClinGen TOPMed
rs1269644208 CA393666019	273	G>S		No	ClinGen gnomAD
CA7751914 rs374358935	275	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250642880 CA393666092	275	R>H		No	ClinGen gnomAD
rs1301201836 CA393666177	278	D>N		No	ClinGen TOPMed
rs1567180721 CA393666208	279	R>C		No	ClinGen Ensembl
rs778765650 CA7751916	279	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747107423 CA393666287	280	D>E		No	ClinGen ExAC TOPMed gnomAD
CA393666308 rs1347122792	281	F>I		No	ClinGen TOPMed gnomAD
CA7751920 rs746040080	283	A>T		No	ClinGen ExAC gnomAD
CA7751922 rs775798637	285	I>M		No	ClinGen ExAC gnomAD
CA393666476 rs1324115114	285	I>T		No	ClinGen gnomAD
CA7751925 rs774791538	288	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1596402988 CA393666607	288	A>V		No	ClinGen Ensembl
rs1225857187 CA393666619	289	E>K		No	ClinGen gnomAD
CA393666744 rs1203277541	292	D>E		No	ClinGen gnomAD
CA393666722 rs760366319	292	D>H		No	ClinGen ExAC gnomAD
rs760366319 CA7751929	292	D>N		No	ClinGen ExAC gnomAD
CA7751931 rs201529410	294	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1596403038 CA393666826	295	G>R		No	ClinGen Ensembl
CA7751934 rs547142975	297	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7751935 rs547142975	297	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7751937 rs745984927	300	D>N		No	ClinGen ExAC gnomAD
CA7751938 rs756302851	301	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780195678 CA7751939	301	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7751942 rs774794966	302	E>K		No	ClinGen ExAC gnomAD
CA393667216 rs1398752572	304	M>I		No	ClinGen TOPMed
CA393667204 rs1398752572	304	M>I		No	ClinGen TOPMed
CA393667178 rs1300084752	304	M>V		No	ClinGen TOPMed
rs1476643383 CA393667338	308	P>S		No	ClinGen TOPMed gnomAD
CA393667356 rs1353303081	309	S>L		No	ClinGen gnomAD
CA7751945 rs772820424	310	G>D		No	ClinGen ExAC TOPMed gnomAD
CA393667449 rs1282070639	313	R>C		No	ClinGen gnomAD
CA7751948 rs570009181	313	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs55954954 CA393667470	314	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201956526 CA7751950	315	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7751951 rs752567548	315	G>V		No	ClinGen ExAC gnomAD
rs1166303467 CA393667520	316	S>N		No	ClinGen gnomAD
rs1596403180 CA393667540	316	S>R		No	ClinGen Ensembl
rs927703464 CA275353731	317	Q>E		No	ClinGen TOPMed
CA7751983 rs778294422	322	I>L		No	ClinGen ExAC TOPMed gnomAD
CA275359496 rs45597432	322	I>T		No	ClinGen Ensembl
CA393670565 rs778294422	322	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7751984 rs747468191	323	P>L		No	ClinGen ExAC gnomAD
CA275359517 rs981084467	323	P>S		No	ClinGen gnomAD
CA275359533 rs969092160	329	P>L		No	ClinGen TOPMed gnomAD
rs769313679 CA7751988	331	V>I		No	ClinGen ExAC gnomAD
rs775187230 CA7751989	335	E>A		No	ClinGen ExAC gnomAD
CA275359555 rs371969177	338	T>R		No	ClinGen ESP TOPMed
CA7751991 rs768385917	340	T>A		No	ClinGen ExAC TOPMed gnomAD
CA393671107 rs1471169852	341	I>T		No	ClinGen TOPMed
CA393671219 rs1198282429	346	S>F		No	ClinGen TOPMed
rs1331551515 CA393671241	348	Q>P		No	ClinGen gnomAD
CA7751993 rs761702361	351	Q>R		No	ClinGen ExAC gnomAD
rs1286181589 CA393671312	352	G>R		No	ClinGen gnomAD
CA7751994 rs767532157	355	I>N		No	ClinGen ExAC gnomAD
CA393671369 rs1330907250	355	I>V		No	ClinGen gnomAD
rs753840527 CA7751995	359	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759721978 CA7751996	361	L>F		No	ClinGen ExAC gnomAD
rs765375219 CA7751997	362	I>V		No	ClinGen ExAC
CA7751998 rs752908056	364	I>L		No	ClinGen ExAC gnomAD
CA275359594 rs752908056	364	I>V		No	ClinGen ExAC gnomAD
CA393671561 rs1180612681	365	R>Q		No	ClinGen gnomAD
CA7752000 rs778243285	366	R>W		No	ClinGen ExAC gnomAD
rs1567185393 CA393672063	369	N>S		No	ClinGen Ensembl
rs147236845 CA7752023	372	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254667412 CA393672128	378	M>I		No	ClinGen gnomAD
rs972242816 CA393672149	381	I>M		No	ClinGen TOPMed gnomAD
CA393672175 rs1484576897	385	T>M		No	ClinGen TOPMed
CA393672191 rs45445894	388	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7752027 rs45445894 VAR_018855 RCV000888839	388	V>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7752029 rs771834417	391	R>C		No	ClinGen ExAC TOPMed gnomAD
CA393672210 rs771834417	391	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7752030 rs772903411	392	H>R		No	ClinGen ExAC gnomAD
CA275362461 rs954387032	395	A>D		No	ClinGen TOPMed
CA7752036 rs764403253	404	N>H		No	ClinGen ExAC TOPMed gnomAD
CA7752039 rs147486288	404	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7752037 rs774563955	404	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1365982598 CA393672311	406	R>C		No	ClinGen gnomAD
rs148662051 CA7752041	406	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs148662051 CA393672312	406	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA275362557 rs925410948	407	L>F		No	ClinGen TOPMed gnomAD
rs1211176645 CA393672319	408	I>L		No	ClinGen TOPMed gnomAD
CA393672320 rs1211176645	408	I>V		No	ClinGen TOPMed gnomAD
CA393672382 rs1249406479	416	G>A		No	ClinGen gnomAD
CA7752064 rs752186919	422	V>I		No	ClinGen ExAC TOPMed gnomAD
CA393674753 rs1287177223	424	D>N		No	ClinGen gnomAD
CA393674887 rs1199350291	428	L>F		No	ClinGen gnomAD
rs745748508 CA7752070	434	W>S		No	ClinGen ExAC gnomAD
rs1253649143 CA393675118	435	D>G		No	ClinGen TOPMed gnomAD
rs370965676 CA275375881	435	D>N		No	ClinGen ESP TOPMed gnomAD
CA7752071 rs374465368	437	R>C		No	ClinGen ESP ExAC gnomAD
VAR_034893 RCV000179350 rs34516635 RCV000513938 CA203246	437	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs368705943 CA275375899	441	I>V		No	ClinGen ESP TOPMed
CA393675431 rs1369186335	446	M>I		No	ClinGen gnomAD
CA7752074 rs773373992	450	F>L		No	ClinGen ExAC gnomAD
rs1308976685 CA393675694	453	K>R		No	ClinGen gnomAD
rs771228557 CA7752076	458	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777004579 CA7752077	460	Y>S		No	ClinGen ExAC gnomAD
CA275375948 rs1009888118	461	R>C		No	ClinGen TOPMed
CA7752079 rs187980012	461	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7752078 rs187980012	461	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393676079 rs1273841068	466	T>M		No	ClinGen TOPMed gnomAD
CA393676187 rs1441621301	471	R>C		No	ClinGen TOPMed gnomAD
rs763660010 CA7752082	471	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1473174821 CA393676271	474	K>E		No	ClinGen gnomAD
rs751195174 CA7752083	476	D>E		No	ClinGen ExAC gnomAD
CA393676314 rs1187951162	476	D>Y		No	ClinGen gnomAD
CA393676485 rs1169756513	484	E>K		No	ClinGen gnomAD
rs61740877 RCV000179790 CA203441	492	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1247717553 CA393677852	494	H>L		No	ClinGen TOPMed gnomAD
rs1247717553 CA393677851	494	H>R		No	ClinGen TOPMed gnomAD
CA393677849 rs1201603650	494	H>Y		No	ClinGen gnomAD
rs1292981171 CA393677860	495	F>Y		No	ClinGen TOPMed
rs1596438511 CA393677863	496	T>P		No	ClinGen Ensembl
CA275377979 rs79221540	497	S>P		No	ClinGen Ensembl
rs781459455 CA7752114	499	T>A		No	ClinGen ExAC gnomAD
CA393677893 rs543853218	501	S>*		No	ClinGen ExAC TOPMed gnomAD
CA7752117 rs543853218	501	S>L		No	ClinGen ExAC TOPMed gnomAD
rs543853218 CA7752118	501	S>W		No	ClinGen ExAC TOPMed gnomAD
CA7752120 rs768988732	504	R>C		No	ClinGen ExAC gnomAD
rs761469469 CA7752121	504	R>H		No	ClinGen ExAC gnomAD
CA393677916 rs1352502155	505	I>F		No	ClinGen gnomAD
CA393677915 rs1352502155	505	I>V		No	ClinGen gnomAD
rs1239894526 CA393677922	506	I>V		No	ClinGen gnomAD
rs1366040895 CA393677929	507	I>V		No	ClinGen TOPMed
rs767278224 CA7752122	511	R>W		No	ClinGen ExAC gnomAD
rs373427868 CA7752124	513	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA393677991 rs1180413585	516	D>E		No	ClinGen gnomAD
rs1488252968 CA393677988	516	D>G		No	ClinGen TOPMed
CA393677994 rs1270232586	517	Y>D		No	ClinGen TOPMed
rs1420547035 CA393678032	522	S>T		No	ClinGen gnomAD
rs201778894 CA7752130	525	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750559250 CA393678055	526	Y>H		No	ClinGen ExAC gnomAD
CA7752131 rs750559250	526	Y>N		No	ClinGen ExAC gnomAD
CA7752133 rs780247189	530	A>V		No	ClinGen ExAC gnomAD
rs779438053 CA7752155	531	P>L		No	ClinGen ExAC gnomAD
rs1243268914 CA393678756	533	K>E		No	ClinGen gnomAD
CA393678768 rs1464036552	534	N>D		No	ClinGen TOPMed gnomAD
rs1464036552 CA393678767	534	N>H		No	ClinGen TOPMed gnomAD
rs967531542 CA275379311	542	D>G		No	ClinGen TOPMed gnomAD
CA393678877 rs201327820	544	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7752157 rs376022845	545	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs746585730 CA7752159	547	N>H		No	ClinGen ExAC gnomAD
CA393678915 rs1596441727	550	N>D		No	ClinGen Ensembl
CA393678922 rs1471109147	551	M>L		No	ClinGen gnomAD
rs999935408 CA275379354	551	M>T		No	ClinGen Ensembl
rs776619640 CA7752161	554	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7752163 rs200466150	556	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs532511373 CA7752165	557	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7752166 rs371466243	557	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225027488 CA393678971	558	P>L		No	ClinGen gnomAD
CA7752168 rs760877799	559	N>K		No	ClinGen ExAC gnomAD
rs1327880338 CA393678980	560	K>E		No	ClinGen gnomAD
CA393678992 rs143784321	561	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752172 rs765660217	562	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7752173 rs765660217	562	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1018742552 CA275379406	563	E>K		No	ClinGen gnomAD
CA393679008 rs1177421861	564	P>H		No	ClinGen gnomAD
CA7752177 rs756730204	565	G>D		No	ClinGen ExAC gnomAD
rs747472047 CA7752176	565	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1345830020 CA393679015	566	I>L		No	ClinGen gnomAD
rs146905826 CA275379441	569	H>R		No	ClinGen ESP TOPMed gnomAD
CA275379446 RCV000728498 rs45524940	575	T>A		No	ClinGen ClinVar Ensembl dbSNP
CA7752179 rs745481775	576	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7752182 rs138992740	579	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774280289 CA7752184	581	V>I		No	ClinGen ExAC gnomAD
rs1199812556 CA393679127	583	A>T		No	ClinGen gnomAD
rs761670546 CA7752185	584	V>M		No	ClinGen ExAC gnomAD
CA7752187 rs776610004	586	L>H		No	ClinGen ExAC gnomAD
rs766434388 CA7752186	586	L>I		No	ClinGen ExAC gnomAD
CA393679189 rs1163297963	592	D>E		No	ClinGen gnomAD
rs376607968 CA7752189	592	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367951678 CA393679191	593	H>N		No	ClinGen gnomAD
rs1596442115 CA393679195	593	H>R		No	ClinGen Ensembl
CA275379505 rs867106173	594	I>N		No	ClinGen Ensembl
CA7752191 rs758765712	594	I>V		No	ClinGen ExAC gnomAD
CA7752192 rs764375938	595	R>C		No	ClinGen ExAC gnomAD
CA393679206 rs56248469	595	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745430426 CA7752196	604	I>L		No	ClinGen ExAC TOPMed gnomAD
rs745430426 CA7752197	604	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1223089854 CA393679273	605	R>C		No	ClinGen gnomAD
CA7752198 VAR_018856 rs45553041	605	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1481942421 CA393679282	607	N>H		No	ClinGen gnomAD
CA275379542 rs946271839	607	N>S		No	ClinGen gnomAD
CA275379551 rs879571866	609	S>P		No	ClinGen Ensembl
CA7752228 rs774762606	614	P>A		No	ClinGen ExAC
rs45437300 CA275381568	615	L>*		No	ClinGen ExAC gnomAD
CA7752229 rs45437300	615	L>S		No	ClinGen ExAC gnomAD
rs1406787613 CA393679637	616	D>G		No	ClinGen TOPMed
rs761193341 CA7752232	617	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761193341 CA393679642	617	V>L		No	ClinGen ExAC TOPMed gnomAD
CA393679658 rs1567196610	619	S>L		No	ClinGen Ensembl
CA393679684 rs1194483596	623	S>A		No	ClinGen gnomAD
rs754639884 CA7752235	629	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754639884 CA275381593	629	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7752236 rs754639884	629	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7752237 rs752534929	632	N>H		No	ClinGen ExAC gnomAD
rs1596445397 CA393679746	632	N>T		No	ClinGen Ensembl
CA393679759 rs1469887199	634	P>S		No	ClinGen gnomAD
rs1382113741 CA393679768	635	S>F		No	ClinGen gnomAD
CA393679779 rs1330308745	637	P>L		No	ClinGen gnomAD
CA393679776 rs1298156799	637	P>S		No	ClinGen Ensembl
CA7752240 rs144533252	638	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596445440 CA393679796	640	N>T		No	ClinGen Ensembl
CA275381613 rs933748793	641	L>V		No	ClinGen Ensembl
rs745672550 CA7752243	642	S>N		No	ClinGen ExAC gnomAD
rs749384354 CA7752242	642	S>R		No	ClinGen ExAC TOPMed gnomAD
CA275381622 rs745672550	642	S>T		No	ClinGen ExAC gnomAD
rs1053247912 CA275381631	645	I>V		No	ClinGen TOPMed
CA275381633 rs892900626	646	V>M		No	ClinGen TOPMed
RCV000731070 CA393679840 rs1429988490	647	R>H		No	ClinGen ClinVar TOPMed dbSNP
CA393679837 rs1454290108	647	R>S		No	ClinGen gnomAD
CA393679843 rs1596445512	648	W>G		No	ClinGen Ensembl
rs61731172 RCV000965308 RCV001796337 CA7752246	650	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1427895738 CA393679872	652	P>S		No	ClinGen TOPMed
CA7752250 rs143193096	655	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143193096 CA248021 RCV000180533	655	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1180990982 CA393679902	656	Y>C		No	ClinGen gnomAD
CA393679915 rs1567196780	658	Y>F		No	ClinGen Ensembl
CA275381657 rs45451896	659	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7752254 rs45451896	659	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199672504 CA7752252	659	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7752255 rs751448541 RCV000348889	664	S>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA393679989 rs1248886850	666	D>E		No	ClinGen gnomAD
rs1316265369 CA393680000	668	I>L		No	ClinGen gnomAD
rs1225643101 CA393680019	670	I>M		No	ClinGen gnomAD
rs867179167 CA275381928	674	A>V		No	ClinGen Ensembl
rs747239698 CA7752281	676	G>A		No	ClinGen ExAC gnomAD
rs986450031 CA275381935	676	G>S		No	ClinGen TOPMed gnomAD
RCV000731279 rs1567197213	678	I>missing		No	ClinVar dbSNP
CA393680069 rs1427727457	678	I>V		No	ClinGen gnomAD
CA7752282 rs771230491	679	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7752285 rs540191182	682	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1299705486 CA393680107	683	V>A		No	ClinGen gnomAD
rs1454595621 CA393680103	683	V>I		No	ClinGen gnomAD
CA393680104 rs1454595621	683	V>L		No	ClinGen gnomAD
CA7752286 rs774848760	684	T>A		No	ClinGen ExAC gnomAD
rs1380994617 CA393680129	686	N>K		No	ClinGen gnomAD
rs762618906 CA7752287	687	P>L		No	ClinGen ExAC gnomAD
rs1350859606 CA393680140	688	K>M		No	ClinGen gnomAD
rs192294469 CA7752288	691	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7752290 rs761581251	693	G>D		No	ClinGen ExAC gnomAD
rs375617925 CA7752289	693	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320818206 CA393680176	694	G>W		No	ClinGen TOPMed gnomAD
CA393680197 rs1162353876	697	G>R		No	ClinGen TOPMed
rs927009950 CA275381960	699	C>R		No	ClinGen TOPMed
CA393680223 rs201631492	701	A>P		No	ClinGen ExAC TOPMed gnomAD
rs201631492 CA393680224	701	A>S		No	ClinGen ExAC TOPMed gnomAD
CA393680240 rs1184695676	703	P>L		No	ClinGen gnomAD
rs1325510133 CA393680246	704	K>R		No	ClinGen gnomAD
CA7752293 rs760508195	707	A>T		No	ClinGen ExAC gnomAD
rs1427403890 CA393680275	708	E>D		No	ClinGen gnomAD
rs1198985271 CA393680271	708	E>K		No	ClinGen gnomAD
rs1198985271 CA393680270	708	E>Q		No	ClinGen gnomAD
CA7752295 rs758408519	710	Q>H		No	ClinGen ExAC gnomAD
rs752774511 CA7752294	710	Q>K		No	ClinGen ExAC gnomAD
rs777846544 CA7752297	711	A>V		No	ClinGen ExAC gnomAD
rs757536805 CA7752300	719	R>C		No	ClinGen ExAC gnomAD
rs544049409 CA393680351	719	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs544049409 CA7752301	719	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs757536805 CA7752299	719	R>S		No	ClinGen ExAC gnomAD
CA393680361 rs1223585393	721	V>I		No	ClinGen TOPMed
CA7752302 rs770196756	729	S>C		No	ClinGen ExAC gnomAD
rs1490892165 CA393680427	730	I>V		No	ClinGen TOPMed
CA393680440 rs1315809649	732	V>M		No	ClinGen gnomAD
rs1213565062 CA393680451	733	P>L		No	ClinGen gnomAD
CA7752350 rs770616992	738	K>R		No	ClinGen ExAC gnomAD
rs145300307 CA275384228	739	R>W		No	ClinGen ESP TOPMed gnomAD
rs142549071 CA7752351	741	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs146902252 CA7752353	747	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393680620 rs146902252	747	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752354 rs147969557	748	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs762821234 CA7752355	748	T>N		No	ClinGen ExAC TOPMed gnomAD
CA393680628 rs147969557	748	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA393680637 rs1596453768	749	T>P		No	ClinGen Ensembl
CA275384271 rs932826302	750	M>V		No	ClinGen gnomAD
rs1173681603 CA393680680	753	R>G		No	ClinGen gnomAD
CA393680707 rs1245437153	755	R>K		No	ClinGen gnomAD
rs767593583 CA7752356	755	R>S		No	ClinGen ExAC gnomAD
rs1049986796 CA275384289	756	N>S		No	ClinGen TOPMed gnomAD
CA393680730 rs1357104799	757	T>I		No	ClinGen TOPMed
rs773205989 CA7752357	758	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751145913 CA7752359	759	A>G		No	ClinGen ExAC TOPMed gnomAD
CA393680753 rs1285343143	760	A>G		No	ClinGen TOPMed gnomAD
rs70958396 CA393680750	760	A>S		No	ClinGen ExAC TOPMed gnomAD
rs70958396 CA7752361	760	A>T		No	ClinGen ExAC TOPMed gnomAD
CA393680754 rs1285343143	760	A>V		No	ClinGen TOPMed gnomAD
rs1345807800 CA393680763	761	D>G		No	ClinGen gnomAD
rs45522834 CA275384313	762	T>I		No	ClinGen ExAC gnomAD
CA7752362 rs45522834	762	T>N		No	ClinGen ExAC gnomAD
rs1036734378 CA275384317	763	Y>C		No	ClinGen TOPMed gnomAD
CA7752363 rs753203343	764	N>T		No	ClinGen ExAC TOPMed gnomAD
CA7752364 rs758864482	765	I>N		No	ClinGen ExAC gnomAD
CA275384334 rs995287825	767	D>N		No	ClinGen Ensembl
rs751084290 CA7752365	768	P>A		No	ClinGen ExAC gnomAD
rs756897082 CA7752366	768	P>L		No	ClinGen ExAC TOPMed gnomAD
CA393680855 rs1270131506	770	E>K		No	ClinGen TOPMed
rs745532147 CA7752368	771	L>V		No	ClinGen ExAC gnomAD
CA393680880 rs1157951604	772	E>G		No	ClinGen gnomAD
rs779744226 CA7752370	774	E>A		No	ClinGen ExAC gnomAD
CA7752369 rs147027099	774	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752373 rs773329369	780	S>G		No	ClinGen ExAC gnomAD
rs771140051 CA7752375	783	D>Y		No	ClinGen ExAC gnomAD
rs754227393 CA275384367	784	N>K		No	ClinGen Ensembl
rs754227393 CA393681026	784	N>K		No	ClinGen Ensembl
rs937017077 CA275384364	784	N>Y		No	ClinGen TOPMed
rs1278323768 CA393681047	786	E>A		No	ClinGen gnomAD
CA7752376 rs776938282	787	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7752377 rs759861876	788	T>S		No	ClinGen ExAC gnomAD
rs1291577911 CA393681074	789	V>I		No	ClinGen gnomAD
CA7752380 rs763500322	794	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7752379 rs753047347	794	R>W		No	ClinGen ExAC gnomAD
rs764571961 CA7752382	796	F>L		No	ClinGen ExAC gnomAD
CA393681156 rs1596454061	797	T>A		No	ClinGen Ensembl
CA393681179 rs1596454082	799	Y>S		No	ClinGen Ensembl
rs1318014146 CA393681190	800	R>C		No	ClinGen TOPMed
CA393681189 rs1318014146	800	R>G		No	ClinGen TOPMed
CA7752384 rs780701626	800	R>H		No	ClinGen ExAC gnomAD
rs750036855 CA7752385	801	I>F		No	ClinGen ExAC TOPMed gnomAD
VAR_034896 rs34061581 CA275384394	808	H>R		No	ClinGen UniProt Ensembl dbSNP
rs768636512 CA7752389	809	E>K		No	ClinGen ExAC TOPMed gnomAD
CA393681300 rs1391007042	810	A>S		No	ClinGen gnomAD
rs1188924518 CA393681322	812	K>Q		No	ClinGen TOPMed
rs1337595293 CA393681357	815	C>Y		No	ClinGen gnomAD
rs1450345144 CA393681366	816	S>G		No	ClinGen TOPMed
CA393681381 rs771088781	817	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7752392 rs771088781	817	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1485579737 CA393681382	817	A>V		No	ClinGen TOPMed
rs776886944 CA7752393	818	S>P		No	ClinGen ExAC gnomAD
rs759804883 CA7752394	819	N>S		No	ClinGen ExAC TOPMed gnomAD
CA393681399 rs759804883	819	N>T		No	ClinGen ExAC TOPMed gnomAD
CA393681416 rs769964962	820	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7752396 rs775915596	821	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774670816 CA7752399	826	M>I		No	ClinGen ExAC gnomAD
CA7752398 rs764528847	826	M>V		No	ClinGen ExAC gnomAD
rs35224135 CA7752401	828	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs35224135 VAR_034897 CA275384423	828	A>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA393681511 rs1478253323	831	A>V		No	ClinGen gnomAD
rs1175857946 CA393681527	833	D>E		No	ClinGen gnomAD
CA7752422 rs369599027	842	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754692816 CA7752423	843	R>K		No	ClinGen ExAC gnomAD
CA393681592 rs1409932211	843	R>S		No	ClinGen TOPMed
rs764913120 CA7752424	844	P>R		No	ClinGen ExAC gnomAD
CA7752425 rs555406656	846	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7752426 rs758402638	847	S>T		No	ClinGen ExAC gnomAD
CA7752427 rs777782407	848	I>V		No	ClinGen ExAC TOPMed gnomAD
CA393681650 rs1218841820	852	W>*		No	ClinGen gnomAD
CA7752430 rs45611935 RCV000268527 VAR_041426	857	N>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7752431 rs45611935	857	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275385230 rs773555066	858	P>S		No	ClinGen Ensembl
RCV000520992 rs1555462145 CA393681755	860	G>*		No	ClinGen ClinVar Ensembl dbSNP
CA393681764 rs1256457956	861	L>V		No	ClinGen gnomAD
rs372672370 CA7752435	870	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198959559 CA393681907	871	S>L		No	ClinGen gnomAD
CA7752437 rs200208883	872	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7752438 rs200208883	872	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473022776 CA393681919	872	Q>H		No	ClinGen gnomAD
rs1177450000 CA393681916	872	Q>R		No	ClinGen gnomAD
CA275385249 rs903429383	873	V>A		No	ClinGen gnomAD
CA393682024 rs1222573938	875	D>N		No	ClinGen gnomAD
CA7752464 rs150221450	877	R>*		No	ClinGen ESP ExAC gnomAD
CA393682054 rs150221450	877	R>G		No	ClinGen ESP ExAC gnomAD
CA275385671 rs1047436404	877	R>Q		No	ClinGen gnomAD
rs750332905 CA7752465	878	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754994691 CA7752466	879	C>Y		No	ClinGen ExAC gnomAD
rs45578132 CA275385691	880	V>A		No	ClinGen gnomAD
rs1182174604 CA393682095	880	V>L		No	ClinGen TOPMed gnomAD
CA393682093 rs1182174604	880	V>M		No	ClinGen TOPMed gnomAD
CA7752468 rs752878706	882	R>G		No	ClinGen ExAC
CA7752469 rs758662662	883	Q>*		No	ClinGen ExAC gnomAD
rs1353427010 CA393682135	883	Q>H		No	ClinGen TOPMed gnomAD
CA7752470 rs778092387	883	Q>P		No	ClinGen ExAC gnomAD
rs1463560318 CA393682144	884	E>A		No	ClinGen gnomAD
rs1596457099 CA393682140	884	E>Q		No	ClinGen Ensembl
CA7752471 rs747468693	886	R>G		No	ClinGen ExAC gnomAD
CA393682205 rs1567202482	888	Y>C		No	ClinGen Ensembl
rs1161020600 CA393682240	892	K>R		No	ClinGen TOPMed
rs1377602787 CA393682248	893	L>R		No	ClinGen gnomAD
CA393682253 rs1451794305	894	N>S		No	ClinGen gnomAD
CA7752472 rs745472383	895	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1229520745 CA393682265	896	L>P		No	ClinGen gnomAD
rs142608976 CA7752474	898	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142608976 CA7752475	898	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs138028599 CA275385754	898	P>S		No	ClinGen ESP gnomAD
rs56400113 CA275385766	900	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7752479 rs761602465	902	T>K		No	ClinGen ExAC gnomAD
rs760639369 CA7752482	904	R>Q		No	ClinGen ExAC TOPMed
CA7752481 rs773153471	904	R>W		No	ClinGen ExAC TOPMed gnomAD
CA275385780 rs148404201	905	I>N		No	ClinGen ESP TOPMed
CA393682327 rs1339065550	907	A>S		No	ClinGen TOPMed
CA7752484 rs752825927	908	T>A		No	ClinGen ExAC gnomAD
CA393682379 rs1469290616	915	S>L		No	ClinGen gnomAD
rs1329637930 CA393682400	918	D>G		No	ClinGen Ensembl
rs746344019 CA7752490	924	V>I		No	ClinGen ExAC gnomAD
CA393682449 rs1464033934	925	Q>R		No	ClinGen TOPMed
rs756732631 CA7752491	926	A>G		No	ClinGen ExAC gnomAD
RCV000405417 CA7752493 rs748872697	928	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7752518 rs752154075	928	T>I		No	ClinGen ExAC gnomAD
CA7752519 rs190470291	929	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs898510509 CA275388313	932	N>S		No	ClinGen TOPMed gnomAD
CA7752520 rs746876593	932	N>Y		No	ClinGen ExAC gnomAD
CA393682753 rs1157030342	933	F>L		No	ClinGen TOPMed
CA275388318 rs1013396489	936	L>V		No	ClinGen gnomAD
CA393682778 rs1596462912	937	I>T		No	ClinGen Ensembl
CA393682789 rs755569322	939	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7752522 rs755569322 RCV000729621	939	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768746949 CA7752524	940	L>V		No	ClinGen ExAC gnomAD
CA7752525 rs774340895	941	P>L		No	ClinGen ExAC gnomAD
rs541998637 CA7752527	942	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7752530 rs761063787	943	A>S		No	ClinGen ExAC gnomAD
CA7752529 rs761063787	943	A>T		No	ClinGen ExAC gnomAD
CA393682809 rs1177958448	943	A>V		No	ClinGen gnomAD
CA7752531 rs199997110	944	V>I		No	ClinGen ExAC TOPMed gnomAD
rs778465734 CA7752533	948	V>M		No	ClinGen ExAC gnomAD
CA7752537 rs746647582	954	M>V		No	ClinGen ExAC gnomAD
rs770757976 CA7752538	955	L>P		No	ClinGen ExAC TOPMed gnomAD
CA393682892 rs1320984804	957	V>I		No	ClinGen TOPMed
rs1178404126 CA393682914	960	R>G		No	ClinGen gnomAD
rs142543491 CA7752541	961	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs551401830 CA7752563	963	N>S		No	ClinGen ExAC gnomAD
CA275388631 rs45493995	965	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1256569511 CA393682994	970	G>R		No	ClinGen gnomAD
rs777136740 CA7752567	976	V>L		No	ClinGen ExAC gnomAD
CA393683073 rs1176015178	981	F>L		No	ClinGen gnomAD
CA393683083 rs765617641	983	A>S		No	ClinGen ExAC gnomAD
CA7752569 rs765617641	983	A>T		No	ClinGen ExAC gnomAD
CA275388646 rs918757248	984	A>T		No	ClinGen TOPMed gnomAD
CA393657525 rs1221101985	986	V>A		No	ClinGen gnomAD
CA393657569 rs1369647045	988	V>I		No	ClinGen TOPMed
rs1596468480 CA393657657	994	V>G		No	ClinGen Ensembl
RCV001240924 rs2016082493	995	A>missing		No	ClinVar dbSNP
rs750083612 CA7752596	996	R>Q		No	ClinGen ExAC gnomAD
CA393657670 rs1416018269	996	R>W		No	ClinGen TOPMed
CA393657695 rs1369063768	998	K>N		No	ClinGen gnomAD
rs569704719 CA7752599	1000	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1163550820 CA393657715	1001	M>I		No	ClinGen gnomAD
CA393657710 rs1419374413	1001	M>V		No	ClinGen gnomAD
CA393657725 rs1422947217	1002	S>R		No	ClinGen TOPMed
rs754969104 CA7752600	1003	R>Q		No	ClinGen ExAC gnomAD
rs1470161328 CA393657799	1009	S>L		No	ClinGen TOPMed
CA7752604 rs202164991	1014	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs770004826 CA7752606	1017	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1257865011 CA393657925	1019	K>R		No	ClinGen TOPMed
rs780289923 CA7752607	1021	V>M		No	ClinGen ExAC
rs749722429 CA7752608	1022	V>L		No	ClinGen ExAC gnomAD
CA7752609 rs768997684	1024	D>G		No	ClinGen ExAC gnomAD
CA393657996 rs1323609790	1024	D>N		No	ClinGen TOPMed gnomAD
rs774888799 CA393658026	1025	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1257485183 CA393658005	1025	E>K		No	ClinGen gnomAD
CA275326595 rs1038923367	1028	T>A		No	ClinGen Ensembl
CA393658086 rs1038923367	1028	T>P		No	ClinGen Ensembl
CA393658091 rs1219183782	1028	T>S		No	ClinGen TOPMed
rs1596468621 RCV001008912	1029	R>missing		No	ClinVar dbSNP
CA275326596 rs760360300	1029	R>K		No	ClinGen gnomAD
rs1472642141 CA393658121	1030	V>L		No	ClinGen gnomAD
RCV000323650 rs886043535 CA10605630	1031	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs374208921 CA7752612	1032	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165087809 CA393658256	1037	E>K		No	ClinGen gnomAD
rs1463999779 CA393658302	1039	A>E		No	ClinGen gnomAD
rs765988181 CA7752616	1039	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765988181 CA7752615	1039	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765098424 CA7752618	1041	M>I		No	ClinGen ExAC gnomAD
CA7752617 rs759458578	1041	M>V		No	ClinGen ExAC gnomAD
CA393658352 rs1313769986	1042	R>H		No	ClinGen TOPMed
rs752717839 CA7752619	1042	R>S		No	ClinGen ExAC gnomAD
rs2229765 CA393658383	1043	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393658359 rs1228638644	1043	E>Q		No	ClinGen gnomAD
rs781148431 CA7752620	1046	E>K		No	ClinGen ExAC gnomAD
CA393658512 rs139635235	1049	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221019068 CA393658533	1051	A>V		No	ClinGen gnomAD
CA275326597 rs1038868338	1056	E>A		No	ClinGen TOPMed
CA7752623 rs780382569	1058	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7752624 rs144852244	1062	V>A		No	ClinGen ESP ExAC gnomAD
CA275326621 rs372138082	1064	R>Q		No	ClinGen ESP TOPMed gnomAD
rs933885827 CA275326622	1072	G>V		No	ClinGen TOPMed
rs1358911694 CA393658881	1075	T>I		No	ClinGen gnomAD
CA393658919 rs1421738121	1078	I>V		No	ClinGen gnomAD
rs1330526325 CA393658992	1084	R>Q		No	ClinGen TOPMed gnomAD
CA393658991 rs1319140524	1084	R>W		No	ClinGen gnomAD
rs1277066179 CA393659006	1086	D>N		No	ClinGen gnomAD
CA393659018 rs1372217590	1087	L>I		No	ClinGen gnomAD
rs746576007 CA275326624	1088	K>R		No	ClinGen Ensembl
CA393659061 rs1284291259	1090	Y>C		No	ClinGen gnomAD
rs756613596 CA275326625	1092	R>Q		No	ClinGen TOPMed
rs1351130675 CA393659081	1092	R>W		No	ClinGen gnomAD
CA393659096 rs1206526432	1093	S>C		No	ClinGen gnomAD
CA393659139 rs1284356361	1097	E>G		No	ClinGen gnomAD
CA393659155 rs1450481452	1098	M>I		No	ClinGen gnomAD
rs1197859379 CA393659682	1100	N>H		No	ClinGen gnomAD
rs770510103 CA7752653	1101	N>K		No	ClinGen ExAC TOPMed gnomAD
CA275327105 rs924115395	1102	P>A		No	ClinGen Ensembl
CA393659724 rs1567211740	1102	P>L		No	ClinGen Ensembl
rs1270150013 CA393659731	1103	V>G		No	ClinGen gnomAD
CA7752654 rs776238072	1103	V>I		No	ClinGen ExAC gnomAD
rs745533551 CA7752655	1104	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1465424893 CA393659747	1105	A>T		No	ClinGen TOPMed gnomAD
rs769508411 CA7752656	1106	P>S		No	ClinGen ExAC gnomAD
rs1217986850 CA393659766	1107	P>S		No	ClinGen TOPMed
rs1471918967 CA393659775	1108	S>C		No	ClinGen gnomAD
rs767949946 CA275327109	1110	S>R		No	ClinGen TOPMed gnomAD
CA7752657 rs775279275	1114	Q>H		No	ClinGen ExAC gnomAD
CA7752658 rs762867734	1115	M>L		No	ClinGen ExAC gnomAD
rs1238473261 CA393659857	1115	M>T		No	ClinGen TOPMed
rs774388898 CA7752660	1117	G>R		No	ClinGen ExAC TOPMed gnomAD
rs371793158 CA7752664	1123	M>V		No	ClinGen ESP ExAC gnomAD
rs1341344717 CA393659978	1127	N>H		No	ClinGen gnomAD
rs777966016 CA7752668	1128	A>T		No	ClinGen ExAC gnomAD
rs1157438489 CA393660009	1129	N>S		No	ClinGen TOPMed
CA7752669 rs747578999	1132	V>I		No	ClinGen ExAC TOPMed gnomAD
CA393660114 rs1477511324	1138	A>S		No	ClinGen gnomAD
RCV000175277 rs794727201 CA240998	1139	R>Q		No	ClinGen ClinVar Ensembl dbSNP
CA393660128 rs1596472846	1139	R>W		No	ClinGen Ensembl
CA7752674 rs775334349	1145	E>D		No	ClinGen ExAC gnomAD
CA7752673 rs769418210	1145	E>K		No	ClinGen ExAC TOPMed gnomAD
rs900954701 CA275327111	1147	F>Y		No	ClinGen Ensembl
CA393660256 rs1157702045	1150	K>R		No	ClinGen gnomAD
CA393661353 rs1265924738	1157	T>M		No	ClinGen gnomAD
CA393661362 rs1287599859	1158	R>*		No	ClinGen TOPMed
CA7752701 rs769891354	1161	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA275327583 rs1050560341	1164	D>E		No	ClinGen Ensembl
rs1167039747 CA393661467	1165	Y>C		No	ClinGen TOPMed
CA7752704 rs374121578	1167	R>W		No	ClinGen ESP ExAC gnomAD
CA7752705 rs751797539	1169	G>*		No	ClinGen ExAC gnomAD
rs767965713 CA7752707	1170	G>E		No	ClinGen ExAC gnomAD
CA393661553 rs1384861330	1173	L>P		No	ClinGen TOPMed
CA393661645 rs1317706878	1182	E>G		No	ClinGen gnomAD
rs376842048 CA7752713	1182	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA393661662 rs1253190867	1184	L>V		No	ClinGen gnomAD
rs754505489 CA7752714	1185	K>R		No	ClinGen ExAC gnomAD
rs747775377 CA7752716	1192	Y>C		No	ClinGen ExAC gnomAD
CA7752717 rs771892802	1193	S>A		No	ClinGen ExAC gnomAD
CA393661768 rs201014974	1195	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201014974 CA7752720	1195	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000320012 CA10606770 rs886044448	1199	G>R		No	ClinGen ClinVar Ensembl dbSNP
rs556493537 CA7752743	1201	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772355972 CA7752745	1206	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772355972 CA7752746	1206	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1360565148 CA393663146	1210	E>K		No	ClinGen gnomAD
CA393663172 rs1216829167	1211	Q>*		No	ClinGen gnomAD
rs766741335 CA7752748	1213	Y>H		No	ClinGen ExAC gnomAD
rs1475375952 CA393663307	1216	L>S		No	ClinGen TOPMed
rs1185222113 CA393663357	1219	E>K		No	ClinGen TOPMed
CA393663385 rs1423172463	1220	Q>R		No	ClinGen TOPMed
rs373732310 CA7752750	1223	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188113383 CA393663460	1225	V>A		No	ClinGen gnomAD
CA7752752 rs752140857	1225	V>I		No	ClinGen ExAC gnomAD
CA393663464 rs1231717278	1226	M>L		No	ClinGen Ensembl
CA393663486 rs1261830079	1226	M>T		No	ClinGen gnomAD
CA7752754 rs368518102	1229	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419987933 CA393663636	1233	K>R		No	ClinGen gnomAD
CA393663664 rs1213939753	1234	P>L		No	ClinGen TOPMed
rs751193576 CA275328600	1234	P>S		No	ClinGen ExAC gnomAD
CA7752755 rs751193576	1234	P>T		No	ClinGen ExAC gnomAD
CA393663692 rs1267599624	1235	D>E		No	ClinGen TOPMed
CA393663730 rs1171490584	1236	N>S		No	ClinGen gnomAD
CA7752756 rs757046261	1237	C>S		No	ClinGen ExAC TOPMed gnomAD
CA393663850 rs1275798100	1240	M>I		No	ClinGen TOPMed gnomAD
rs45504297 CA275328605	1241	L>P		No	ClinGen Ensembl
rs1596493240 CA393666908	1242	F>V		No	ClinGen Ensembl
rs777960130 CA7752783	1243	E>D		No	ClinGen ExAC TOPMed gnomAD
rs747216665 CA7752784	1245	M>R		No	ClinGen ExAC gnomAD
rs61740868 CA7752785	1246	R>C		No	ClinGen ExAC TOPMed gnomAD
CA393667602 rs61740868	1246	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7752786 rs45512296	1246	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746308002 CA7752787	1247	M>I		No	ClinGen ExAC gnomAD
rs375163101 CA275332180	1247	M>V		No	ClinGen ESP TOPMed
rs1178294655 CA393667852	1252	N>S		No	ClinGen gnomAD
CA275332182 rs879225704	1253	P>R		No	ClinGen Ensembl
CA393667862 rs1231440604	1253	P>T		No	ClinGen gnomAD
rs149148921 CA275332184	1255	M>L		No	ClinGen ESP TOPMed gnomAD
CA7752788 rs770126866	1256	R>M		No	ClinGen ExAC gnomAD
rs1460350531 CA393667967	1257	P>L		No	ClinGen gnomAD
rs1413077368 CA393667963	1257	P>S		No	ClinGen gnomAD
rs368065238 CA7752789	1258	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368065238 CA275332190	1258	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752791 rs768179919	1261	E>D		No	ClinGen ExAC gnomAD
CA393668115 rs1596493371	1262	I>M		No	ClinGen Ensembl
rs1327245413 CA393668158	1263	I>M		No	ClinGen gnomAD
rs773854812 CA7752792	1265	S>I		No	ClinGen ExAC gnomAD
rs1567223061 CA393668236	1268	E>G		No	ClinGen Ensembl
CA393668316 rs1165403164	1271	E>G		No	ClinGen TOPMed
rs761376405 CA7752793	1271	E>K		No	ClinGen ExAC gnomAD
rs750032832 CA7752795	1272	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767268676 CA7752794	1272	P>S		No	ClinGen ExAC gnomAD
CA275332294 rs965875850	1273	G>D		No	ClinGen Ensembl
CA393668411 rs556294716	1275	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7752797 rs556294716	1275	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs143286842 CA7752796	1275	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752799 rs754913171	1276	E>G		No	ClinGen ExAC gnomAD
rs376681288 CA7752798	1276	E>Q		No	ClinGen ESP ExAC gnomAD
rs753192849 CA275332373	1279	F>Y		No	ClinGen Ensembl
rs1190115563 CA393668523	1280	Y>C		No	ClinGen gnomAD
rs1567223136 CA393668536	1281	Y>H		No	ClinGen Ensembl
rs45526336 RCV000895434 CA7752806	1283	E>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs777816523 CA275332422	1284	E>K		No	ClinGen Ensembl
rs780352199 CA7752809	1285	N>S		No	ClinGen ExAC gnomAD
rs1293053635 CA393668683	1286	K>R		No	ClinGen TOPMed
rs749812529 CA7752810	1287	L>V		No	ClinGen ExAC gnomAD
rs1412431600 CA393668727	1288	P>L		No	ClinGen TOPMed gnomAD
CA393668730 rs1412431600	1288	P>R		No	ClinGen TOPMed gnomAD
rs545467459 CA7752815	1289	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7752813 rs747754427	1289	E>G		No	ClinGen ExAC gnomAD
CA393668735 rs1356080771	1289	E>K		No	ClinGen gnomAD
CA7752814 rs747754427	1289	E>V		No	ClinGen ExAC gnomAD
CA393668773 rs1215292877	1291	E>G		No	ClinGen TOPMed
CA393668767 rs1279929438	1291	E>K		No	ClinGen gnomAD
rs759548165 CA7752819	1293	L>R		No	ClinGen ExAC
rs1276621604 CA393668817	1294	D>N		No	ClinGen TOPMed
CA275332557 rs892519436	1295	L>V		No	ClinGen TOPMed gnomAD
CA7752820 rs376413435	1299	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752561182 CA7752821	1300	M>T		No	ClinGen ExAC gnomAD
rs1466894922 CA393668974	1301	E>D		No	ClinGen TOPMed gnomAD
CA7752822 rs757405060	1302	S>I		No	ClinGen ExAC gnomAD
rs369481117 CA393668990	1302	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752824 rs45475702	1303	V>I		No	ClinGen ExAC TOPMed gnomAD
rs45475702 CA393669008	1303	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1596493678 CA393669075	1306	D>A		No	ClinGen Ensembl
CA393669098 rs1314178071	1307	P>L		No	ClinGen gnomAD
CA7752827 rs188857649	1307	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753745798 CA7752828	1308	S>L		No	ClinGen ExAC gnomAD
CA393669132 rs1381601922	1309	A>V		No	ClinGen gnomAD
CA7752833 rs771642071	1311	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7752835 rs746673171	1312	S>F		No	ClinGen ExAC gnomAD
rs746673171 CA393669161	1312	S>Y		No	ClinGen ExAC gnomAD
rs1246697191 CA393669197	1313	S>C		No	ClinGen TOPMed
CA7752837 rs776415121	1313	S>P		No	ClinGen ExAC gnomAD
rs144738779 CA7752838	1315	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775531453 CA7752840	1317	P>L		No	ClinGen ExAC gnomAD
CA393669268 rs1218278245	1317	P>S		No	ClinGen TOPMed
CA7752843 rs138696883	1318	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs138696883 CA7752844	1318	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA275332675 rs372501863	1320	H>Q		No	ClinGen ESP TOPMed
rs755377291 CA7752847	1321	S>*		No	ClinGen ExAC gnomAD
rs755377291 CA393669358	1321	S>L		No	ClinGen ExAC gnomAD
rs754038791 CA7752846	1321	S>P		No	ClinGen ExAC gnomAD
CA7752848 rs779104996	1322	G>R		No	ClinGen ExAC TOPMed gnomAD
rs375822799 CA7752849	1323	H>L		No	ClinGen ESP ExAC gnomAD
rs903436661 CA275332698	1323	H>Y		No	ClinGen Ensembl
CA393669414 rs1377727567	1325	A>S		No	ClinGen TOPMed gnomAD
rs777341351 CA7752851	1326	E>K		No	ClinGen ExAC TOPMed gnomAD
rs374710491 CA7752852	1327	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368444933 CA393669473	1328	G>D		No	ClinGen gnomAD
CA7752857 rs200870187	1330	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200870187 CA7752856	1330	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393669530 rs1262560474	1331	P>R		No	ClinGen gnomAD
CA393669542 rs768543150	1332	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7752859 rs768543150	1332	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774259609 CA7752860	1333	V>L		No	ClinGen ExAC gnomAD
CA7752861 rs774259609	1333	V>L		No	ClinGen ExAC gnomAD
CA393669574 rs1461923230	1334	L>P		No	ClinGen TOPMed
rs1251543399 CA393669584	1335	V>L		No	ClinGen gnomAD
rs759627092 CA7752864	1337	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759627092 CA7752863	1337	R>L		No	ClinGen ExAC TOPMed gnomAD
rs34102392 CA393669621	1338	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7752866 VAR_041427 rs34102392	1338	A>T		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA393669628 rs1330066958	1338	A>V		No	ClinGen TOPMed
CA7752869 rs150801101	1341	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393669709 rs1442885994	1342	E>K		No	ClinGen TOPMed gnomAD
CA393669754 rs1567223581	1344	Q>E		No	ClinGen Ensembl
CA393669761 rs1389819513	1344	Q>R		No	ClinGen gnomAD
CA393669777 rs1309250208	1345	P>A		No	ClinGen TOPMed gnomAD
rs769268437 CA7752873	1345	P>L		No	ClinGen ExAC gnomAD
CA393669779 rs1309250208	1345	P>S		No	ClinGen TOPMed gnomAD
CA620299719 rs1164155777	1346	Y>*		No	ClinGen gnomAD
CA393669798 rs17847203	1346	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA275332912 rs909142461	1347	A>T		No	ClinGen TOPMed gnomAD
rs1480109599 CA393669842	1349	M>I		No	ClinGen gnomAD
CA7752878 rs761700320	1350	N>D		No	ClinGen ExAC gnomAD
rs548962243 CA275332952	1351	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548962243 CA7752880	1351	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759808066 CA393669881	1352	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1567223658 RCV000734315 CA393669875	1352	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs759808066 CA7752881	1352	G>V		No	ClinGen ExAC TOPMed gnomAD
rs373440147 CA7752882	1353	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA393669912 rs1308531082	1354	K>N		No	ClinGen TOPMed
CA393669943 rs1310080818	1356	E>A		No	ClinGen TOPMed
rs200539075 CA393669952	1357	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs200539075 CA7752887	1357	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs771590506 CA275333009	1358	A>P		No	ClinGen ExAC gnomAD
rs771590506 CA7752888	1358	A>S		No	ClinGen ExAC gnomAD
CA275333018 rs771590506	1358	A>T		No	ClinGen ExAC gnomAD
rs1357986077 CA393669971	1358	A>V		No	ClinGen gnomAD
CA7752889 rs140437144	1359	L>S		No	ClinGen ESP ExAC gnomAD
CA7752890 rs779623011	1360	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7752892 rs754763188	1361	L>R		No	ClinGen ExAC TOPMed gnomAD
rs778628208 CA7752893	1362	P>S		No	ClinGen ExAC gnomAD
CA393670035 rs1483167529	1363	Q>*		No	ClinGen gnomAD
rs1209606444 CA393670049	1363	Q>H		No	ClinGen gnomAD
CA7752894 rs370843278	1365	S>L		No	ClinGen ESP ExAC gnomAD
CA393670111 rs951700427	1367	C>F		No	ClinGen TOPMed
rs951700427 CA275333061	1367	C>Y		No	ClinGen TOPMed
CA393670127 rs1567223792	1368	C>R		No	ClinGen Ensembl
CA620299720 rs1567223797	1368	C>Y		No	ClinGen Ensembl

1 associated diseases with P08069

[MIM: 270450]: Insulin-like growth factor 1 resistance (IGF1RES)

A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. {ECO:0000269|PubMed:14657428, ECO:0000269|PubMed:15928254, ECO:0000269|PubMed:25040157}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. {ECO:0000269|PubMed:14657428, ECO:0000269|PubMed:15928254, ECO:0000269|PubMed:25040157}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for P08069

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	14 - 272	IPR000719
active_site	Serine/threonine-protein kinase, active site	132 - 144	IPR008271
domain	Calcium/calmodulin-dependent protein kinase II, association-domain	346 - 473	IPR013543
binding_site	Protein kinase, ATP binding site	20 - 43	IPR017441

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF106	INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	Insulin/IGF pathway-protein kinase B signaling cascade INSR IGF-R IRR Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade INSR IGF-R IRR Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade Insulin IGF Gonadotropin-releasing hormone receptor pathway IGF-1R

14 GO annotations of cellular component

Name	Definition
alphav-beta3 integrin-IGF-1-IGF1R complex	A protein complex that consists of an alphav-beta3 integrin complex bound to insulin-like growth factor-1 (IGF-1) and type I insulin-like growth factor receptor (IGF1R). IGF1R is a heterotetramer that consists of two alpha-subunits and two beta-subunits.
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
insulin receptor complex	A disulfide-bonded, heterotetrameric receptor complex. The alpha chains are entirely extracellular, while each beta chain has one transmembrane domain. The ligand binds to the alpha subunit extracellular domain and the kinase is associated with the beta subunit intracellular domain.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.
protein kinase complex	A protein complex which is capable of protein kinase activity.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
T-tubule	Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane.

16 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
G-protein alpha-subunit binding	Binding to a G-protein alpha subunit. The alpha subunit binds a guanine nucleotide.
identical protein binding	Binding to an identical protein or proteins.
insulin binding	Binding to insulin, a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
insulin receptor binding	Binding to an insulin receptor.
insulin receptor substrate binding	Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex.
insulin-activated receptor activity	Combining with insulin receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
insulin-like growth factor binding	Binding to an insulin-like growth factor, any member of a group of polypeptides that are structurally homologous to insulin and share many of its biological activities, but are immunologically distinct from it.
insulin-like growth factor I binding	Binding to insulin-like growth factor I.
insulin-like growth factor-activated receptor activity	Combining with insulin-like growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
phosphatidylinositol 3-kinase binding	Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
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 transporter activity	Directly binding to a specific protein and delivering it to a specific cellular location.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
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.

55 GO annotations of biological process

Name	Definition
amyloid-beta clearance	The process in which amyloid-beta is removed from extracellular brain regions by mechanisms involving cell surface receptors.
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
cardiac atrium development	The process whose specific outcome is the progression of a cardiac atrium over time, from its formation to the mature structure. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle.
cellular response to aldosterone	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.
cellular response to amyloid-beta	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a amyloid-beta stimulus.
cellular response to angiotensin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen.
cellular response to dexamethasone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.
cellular response to estradiol stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
cellular response to glucose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
cellular response to insulin-like growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin-like growth factor stimulus.
cellular response to mechanical stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
cellular response to progesterone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a progesterone stimulus.
cellular response to testosterone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a testosterone stimulus.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
cerebellum development	The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills.
dendritic spine maintenance	The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
estrous cycle	A type of ovulation cycle, which occurs in most mammalian therian females, where the endometrium is resorbed if pregnancy does not occur.
glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
insulin receptor signaling pathway	The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
insulin-like growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to an insulin-like growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cholangiocyte apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of cholangiocyte apoptotic process.
negative regulation of hepatocyte apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of hepatocyte apoptotic process.
negative regulation of MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade.
negative regulation of muscle cell apoptotic process	Any process that decreases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
phosphatidylinositol 3-kinase signaling	A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
positive regulation of axon regeneration	Any process that activates, maintains or increases the rate of axon regeneration.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cold-induced thermogenesis	Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis.
positive regulation of cytokinesis	Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells.
positive regulation of DNA metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA.
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 osteoblast proliferation	Any process that activates or increases the rate or extent of osteoblast proliferation.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of protein-containing complex disassembly	Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of steroid hormone biosynthetic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.
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).
regulation of JNK cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade.
response to ethanol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus.
response to L-glutamate	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an L-glutamate stimulus.
response to nicotine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nicotine stimulus.
response to vitamin E	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin E stimulus.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transcytosis	The directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side.
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.

76 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q05688	IGF1R	Insulin-like growth factor 1 receptor	Bos taurus (Bovine)	SS
P09208	InR	Insulin-like receptor	Drosophila melanogaster (Fruit fly)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q9WTL4	Insrr	Insulin receptor-related protein	Mus musculus (Mouse)	SS
P15208	Insr	Insulin receptor	Mus musculus (Mouse)	SS
Q60751	Igf1r	Insulin-like growth factor 1 receptor	Mus musculus (Mouse)	SS
Q64716	Insrr	Insulin receptor-related protein	Rattus norvegicus (Rat)	SS
P15127	Insr	Insulin receptor	Rattus norvegicus (Rat)	SS
P24062	Igf1r	Insulin-like growth factor 1 receptor	Rattus norvegicus (Rat)	SS
Q9SXB5	At1g11303	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LPZ9	SD113	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13	Arabidopsis thaliana (Mouse-ear cress)	SS
Q7X8C5	WAKL2	Wall-associated receptor kinase-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9S9M2	WAKL4	Wall-associated receptor kinase-like 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LMN7	WAK5	Wall-associated receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
O64783	At1g61370	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370	Arabidopsis thaliana (Mouse-ear cress)	SS
O64770	At1g61490	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SYA0	At1g61500	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9C9L5	WAKL9	Wall-associated receptor kinase-like 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VYA3	WAKL10	Wall-associated receptor kinase-like 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LW83	CES101	G-type lectin S-receptor-like serine/threonine-protein kinase CES101	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR
O81833	SD11	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M092	WAKL17	Wall-associated receptor kinase-like 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SXB4	At1g11300	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300	Arabidopsis thaliana (Mouse-ear cress)	PR
O64782	SD129	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SY95	At1g61550	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550	Arabidopsis thaliana (Mouse-ear cress)	SS
O64477	At2g19130	G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130	Arabidopsis thaliana (Mouse-ear cress)	SS
O64778	At1g61420	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420	Arabidopsis thaliana (Mouse-ear cress)	SS
O64776	At1g61440	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440	Arabidopsis thaliana (Mouse-ear cress)	SS
O64780	At1g61400	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400	Arabidopsis thaliana (Mouse-ear cress)	SS
O64774	At1g61460	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460	Arabidopsis thaliana (Mouse-ear cress)	PR
O64793	At1g67520	G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39203	SD22	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2	Arabidopsis thaliana (Mouse-ear cress)	SS
O64784	At1g61360	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MKSGSGGGSP	TSLWGLLFLS	AALSLWPTSG	EICGPGIDIR	NDYQQLKRLE	NCTVIEGYLH
70	80	90	100	110	120
ILLISKAEDY	RSYRFPKLTV	ITEYLLLFRV	AGLESLGDLF	PNLTVIRGWK	LFYNYALVIF
130	140	150	160	170	180
EMTNLKDIGL	YNLRNITRGA	IRIEKNADLC	YLSTVDWSLI	LDAVSNNYIV	GNKPPKECGD
190	200	210	220	230	240
LCPGTMEEKP	MCEKTTINNE	YNYRCWTTNR	CQKMCPSTCG	KRACTENNEC	CHPECLGSCS
250	260	270	280	290	300
APDNDTACVA	CRHYYYAGVC	VPACPPNTYR	FEGWRCVDRD	FCANILSAES	SDSEGFVIHD
310	320	330	340	350	360
GECMQECPSG	FIRNGSQSMY	CIPCEGPCPK	VCEEEKKTKT	IDSVTSAQML	QGCTIFKGNL
370	380	390	400	410	420
LINIRRGNNI	ASELENFMGL	IEVVTGYVKI	RHSHALVSLS	FLKNLRLILG	EEQLEGNYSF
430	440	450	460	470	480
YVLDNQNLQQ	LWDWDHRNLT	IKAGKMYFAF	NPKLCVSEIY	RMEEVTGTKG	RQSKGDINTR
490	500	510	520	530	540
NNGERASCES	DVLHFTSTTT	SKNRIIITWH	RYRPPDYRDL	ISFTVYYKEA	PFKNVTEYDG
550	560	570	580	590	600
QDACGSNSWN	MVDVDLPPNK	DVEPGILLHG	LKPWTQYAVY	VKAVTLTMVE	NDHIRGAKSE
610	620	630	640	650	660
ILYIRTNASV	PSIPLDVLSA	SNSSSQLIVK	WNPPSLPNGN	LSYYIVRWQR	QPQDGYLYRH
670	680	690	700	710	720
NYCSKDKIPI	RKYADGTIDI	EEVTENPKTE	VCGGEKGPCC	ACPKTEAEKQ	AEKEEAEYRK
730	740	750	760	770	780
VFENFLHNSI	FVPRPERKRR	DVMQVANTTM	SSRSRNTTAA	DTYNITDPEE	LETEYPFFES
790	800	810	820	830	840
RVDNKERTVI	SNLRPFTLYR	IDIHSCNHEA	EKLGCSASNF	VFARTMPAEG	ADDIPGPVTW
850	860	870	880	890	900
EPRPENSIFL	KWPEPENPNG	LILMYEIKYG	SQVEDQRECV	SRQEYRKYGG	AKLNRLNPGN
910	920	930	940	950	960
YTARIQATSL	SGNGSWTDPV	FFYVQAKTGY	ENFIHLIIAL	PVAVLLIVGG	LVIMLYVFHR
970	980	990	1000	1010	1020
KRNNSRLGNG	VLYASVNPEY	FSAADVYVPD	EWEVAREKIT	MSRELGQGSF	GMVYEGVAKG
1030	1040	1050	1060	1070	1080
VVKDEPETRV	AIKTVNEAAS	MRERIEFLNE	ASVMKEFNCH	HVVRLLGVVS	QGQPTLVIME
1090	1100	1110	1120	1130	1140
LMTRGDLKSY	LRSLRPEMEN	NPVLAPPSLS	KMIQMAGEIA	DGMAYLNANK	FVHRDLAARN
1150	1160	1170	1180	1190	1200
CMVAEDFTVK	IGDFGMTRDI	YETDYYRKGG	KGLLPVRWMS	PESLKDGVFT	TYSDVWSFGV
1210	1220	1230	1240	1250	1260
VLWEIATLAE	QPYQGLSNEQ	VLRFVMEGGL	LDKPDNCPDM	LFELMRMCWQ	YNPKMRPSFL
1270	1280	1290	1300	1310	1320
EIISSIKEEM	EPGFREVSFY	YSEENKLPEP	EELDLEPENM	ESVPLDPSAS	SSSLPLPDRH
1330	1340	1350	1360
SGHKAENGPG	PGVLVLRASF	DERQPYAHMN	GGRKNERALP	LPQSSTC