AiPD: Autoinhibited Protein Database

P36888

Gene name	FLT3 (CD135, FLK2, STK1)
Protein name	Receptor-type tyrosine-protein kinase FLT3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2322
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

FLT3 is a tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. The juxtamembrane (JM) region (between the transmembrane helix and the cytoplasmic kinase domain) negatively regulates catalytic activity in various receptor tyrosine kinases, and this autoinhibition is relieved through ligand-stimulated Tyr phosphorylation. Internal tandem duplication (ITD) mutations within the JM domain contribute to about 17%-34% of FLT3-activating mutations in acute myelogenous leukemia (AML). These repeat sequences serve to disrupt the autoinhibitory activity of the JM domain, resulting in the constitutive activation of FLT3. Also, point mutations such as Asp835 or Asn841 within the activation loop of the FLT3 kinase domain lead to constitutive activation of the receptor, resulting in FLT3 autophosphorylation and phosphorylation of downstream targets.

Autoinhibitory domains (AIDs)

Target domain	610-943 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

572-603 (Juxtamembrane domain)

Target domain

610-943 (Protein kinase domain)

Relief mechanism

PTM (Transphosphorylation of tyrosine residues on JM domain), Ligand binding (Cytokine FLT3LG binding leading to dimerization of the receptor and autophosphorylation)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

823-851 (Activation loop)

Target domain	610-943 (Protein kinase domain)
Relief mechanism
Assay	Structural analysis

References

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Griffith J et al. (2004) "The structural basis for autoinhibition of FLT3 by the juxtamembrane domain", Molecular cell, 13, 169-78

Reindl C et al. (2006) "From kinases to cancer: leakiness, loss of autoinhibition and leukemia", Cell cycle (Georgetown, Tex.), 5, 599-602

Jiang J et al. (2004) "Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML", Blood, 104, 1855-8

Autoinhibited structure

Activated structure

11 structures for P36888

Entry ID	Method	Resolution	Chain	Position	Source
1RJB	X-ray	210 A	A	564-958	PDB
3QS7	X-ray	430 A	E/F/G/H	27-436	PDB
3QS9	X-ray	780 A	E/F/G/H	27-540	PDB
4RT7	X-ray	310 A	A	564-958	PDB
4XUF	X-ray	320 A	A/B	600-947	PDB
5X02	X-ray	240 A	A	564-958	PDB
6IL3	X-ray	250 A	A	564-958	PDB
6JQR	X-ray	220 A	A	571-951	PDB
7QDP	X-ray	369 A	E/F/G/H	1-541	PDB
7ZV9	X-ray	451 A	B/D/F/H/J/L/N/P	1-541	PDB
AF-P36888-F1	Predicted				AlphaFoldDB

717 variants for P36888

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6928567 RCV000444818 COSM28044 rs121913491	572	Y>C	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA387641130 rs1208575764 RCV000984136	572	Y>H	Multiple myeloma [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000445102 CA16603126 rs1057520022 COSM19795	579	V>A	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1057520024 RCV000420236 CA6928553	591	Y>C	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000441431 CA16603154 rs1057520043	591	Y>D	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16603130 RCV000435462 rs1057520025 COSM19522	592	V>A	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000017668 rs587776834	593	D>missing	Acute lymphoid leukemia [ClinVar]	Yes	ClinVar dbSNP
CA16603125 RCV000432251 rs1057520021	594	F>L	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000203482 rs864321619	598	E>DVDFREY	Myelodysplastic syndrome progressed to acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
RCV000437384 CA16602571 rs1057519769	619	G>C	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602570 RCV000426662 rs1057519768	651	D>G	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16603132 RCV000422333 rs1057520026 COSM24667	663	K>Q	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057519767 RCV000443164 CA16602569	676	N>D	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM303886 CA16602568 rs1057519766 RCV000434039	676	N>K	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM303886 RCV000427705 CA16602567 rs1057519766	676	N>K	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602566 RCV000443196 rs1057519765	687	I>F	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1191160 CA16602564 rs1057519764 RCV000420978	691	F>L	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1191160 RCV000431699 rs1057519764 CA16602565	691	F>L	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA6928405 RCV000709881 COSM28046 rs148592477	737	M>I	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM788 COSM787 rs121913487 CA16602449 RCV000424615	835	D>E	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000017667 rs121913486	835	D>missing	Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
COSM27650 rs121909646 CA16602450 RCV000444069	835	D>A	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM788 COSM787 CA16602448 VAR_065679 RCV000444148 rs121913487	835	D>E	acute lymphoblastic leukemia patients and acute myelogenous leukemia patients; somatic mutation; constitutively activated haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA16602563 RCV000439080 rs1057519763	835	D>F	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121913488 COSM785 CA280208 RCV000017662 VAR_065680	835	D>H	acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs121913488 RCV000017663 COSM789 VAR_065681 CA280211	835	D>N	acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000017660 COSM784 VAR_065682 RCV000017661 rs121909646 CA126344	835	D>V	acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Acute lymphoid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA126347 rs121913488 RCV000017666 VAR_065683 COSM783 RCV000017665	835	D>Y	acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Acute lymphoid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000424567 rs121913490	836	I>missing	Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
RCV000417837 CA16603131 rs1057519726	836	I>F	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM19649 RCV000432941 rs1057519726 CA16602447	836	I>L	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602446 rs121913232 VAR_065684 COSM19686 RCV000422249	836	I>M	acute lymphoblastic leukemia patients; somatic mutation haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM19843 RCV000444162 rs1057520023 CA16603127	836	I>S	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000428691 rs1057519726 CA16603129	836	I>V	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000429280 CA16602483 rs991132188 COSM1166729	839	D>G	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs398122514 RCV000017659	841	N>GS	Acute myeloid leukemia [ClinVar]	Yes	ClinVar dbSNP
CA6928302 rs772061268 RCV000440005 COSM24666	841	N>H	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs749281035 COSM19639 CA16603128 RCV000427616	841	N>K	large_intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs376588714 COSM19692 RCV000421989 CA6928300	842	Y>C	haematopoietic_and_lymphoid_tissue Acute myeloid leukemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16602562 RCV000431811 rs1057519762	842	Y>H	Acute myeloid leukemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1428286474 CA387652390	5	A>V		No	ClinGen gnomAD
VAR_034677 COSM4147677 CA6929070 rs12872889	7	D>G	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1258567135 CA387652360	10	Q>R		No	ClinGen TOPMed
CA247274111 rs1011781461	11	L>P		No	ClinGen Ensembl
CA387652349 rs1472287571	12	P>L		No	ClinGen TOPMed
rs376016497 CA6929031	15	V>A		No	ClinGen ESP ExAC gnomAD
CA387652333 rs1184783541	15	V>F		No	ClinGen gnomAD
rs1184783541 CA387652334	15	V>L		No	ClinGen gnomAD
CA159813 rs62636526 RCV000121118 RCV000898151	16	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752754459 CA6929030	19	A>V		No	ClinGen ExAC gnomAD
rs373941964 CA6929028	20	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6929029 rs765418650	20	M>V		No	ClinGen ExAC gnomAD
CA387650614 rs1360829467	21	I>T		No	ClinGen gnomAD
rs1334799394 CA387650608	22	F>S		No	ClinGen TOPMed gnomAD
CA387650600 rs1441692439	23	G>A		No	ClinGen TOPMed
rs1017573758 CA247286912	25	I>V		No	ClinGen Ensembl
CA6929027 rs754142696	26	T>I		No	ClinGen ExAC gnomAD
rs766620089 CA6929026	29	D>V		No	ClinGen ExAC gnomAD
CA6929024 rs370661880	33	I>F		No	ClinGen ESP ExAC gnomAD
rs768002750 CA6929023	33	I>M		No	ClinGen ExAC gnomAD
rs1593286945 CA387650525	35	C>G		No	ClinGen Ensembl
rs1238533990 COSM946480 CA387650510	37	L>S	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6929020 rs553146018	38	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs773802462 CA6929021	38	I>N		No	ClinGen ExAC TOPMed gnomAD
rs762242697 CA6929022	38	I>V		No	ClinGen ExAC TOPMed gnomAD
CA247286806 rs376280703	39	N>S		No	ClinGen ESP TOPMed gnomAD
rs748910439 CA6929019	39	N>Y		No	ClinGen ExAC gnomAD
rs775176653 CA6929018	40	H>R		No	ClinGen ExAC gnomAD
CA6929017 rs139579569	41	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs745739442 CA6929016	42	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1481362608 CA387650469	43	N>K		No	ClinGen TOPMed
CA247286757 rs979689401	43	N>S		No	ClinGen TOPMed
CA387650440 rs1394449672	48	G>E		No	ClinGen TOPMed
CA6929015 rs780849820	48	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6929014 rs757157975	50	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1305926265 CA387650424	51	S>P		No	ClinGen Ensembl
CA387650392 rs1357370556	54	P>L		No	ClinGen gnomAD
CA247286753 rs914265393	54	P>S		No	ClinGen TOPMed
rs1453470522 CA387650378	55	M>I		No	ClinGen Ensembl
CA387650384 rs1294949454	55	M>K		No	ClinGen Ensembl
CA387649491 rs1193293388	56	V>L		No	ClinGen gnomAD
rs746910296 CA6928994	58	E>Q		No	ClinGen ExAC gnomAD
rs777905087 CA6928993	60	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387649407 rs147453280	62	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1029573584 CA247277728	62	D>G		No	ClinGen gnomAD
rs376895552 RCV000121125 CA159834 COSM3786160	64	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6928988 rs376895552	64	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs572460566 CA6928986 COSM3399306	66	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764656426 CA6928985	66	A>V		No	ClinGen ExAC gnomAD
CA6928982 rs201649330	68	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA387649323 rs1593276761	68	R>K		No	ClinGen Ensembl
rs1593276756 CA387649321	68	R>S		No	ClinGen Ensembl
rs752457971 CA6928981	69	P>H		No	ClinGen ExAC gnomAD
rs752457971 CA247277680	69	P>R		No	ClinGen ExAC gnomAD
CA6928977 rs773277609	75	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6928975 rs371663652	77	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387649227 rs1249272183	78	A>D		No	ClinGen gnomAD
rs769807030 CA6928973	78	A>P		No	ClinGen ExAC gnomAD
CA6928974 rs769807030	78	A>T		No	ClinGen ExAC gnomAD
rs746082684 CA6928972	79	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6928969 rs200841206	80	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928970 rs200841206	80	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA387649210 rs1342977721	82	E>K		No	ClinGen TOPMed
CA387649199 rs1401137061	83	V>A		No	ClinGen TOPMed
CA6928968 rs778119340	84	D>G		No	ClinGen ExAC TOPMed
rs1235103983 CA387649196	84	D>N		No	ClinGen TOPMed gnomAD
rs778119340 CA387649192	84	D>V		No	ClinGen ExAC TOPMed
rs1232322315 CA387649179	86	S>F		No	ClinGen gnomAD
rs758850662 CA6928967	86	S>P		No	ClinGen ExAC TOPMed gnomAD
rs753172215 CA6928966	87	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1383394847 CA387649167	89	I>L		No	ClinGen gnomAD
CA247277585 rs927437720	90	T>A		No	ClinGen gnomAD
rs760407576 CA6928961	90	T>I		No	ClinGen ExAC gnomAD
rs906476205 CA247277550	93	V>M		No	ClinGen TOPMed
CA387649135 rs1452119678	94	L>P		No	ClinGen gnomAD
CA247277549 rs1045429768	95	V>I		No	ClinGen TOPMed gnomAD
CA247277548 rs1044875315	96	D>N		No	ClinGen TOPMed gnomAD
CA6928956 rs55784328	97	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs55975001 CA247277536	97	A>T		No	ClinGen Ensembl
CA6928957 rs55784328	97	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387649118 rs1483557529	98	P>T		No	ClinGen gnomAD
rs988701709 CA247277522	99	G>R		No	ClinGen Ensembl
CA387649103 rs1255132494	100	N>S		No	ClinGen gnomAD
CA247277512 rs774223271	102	S>C		No	ClinGen Ensembl
CA6928954 rs781258193	104	L>F		No	ClinGen ExAC gnomAD
CA387649044 rs1227729363	108	K>N		No	ClinGen gnomAD
rs1324707983 CA387649039	109	H>R		No	ClinGen TOPMed gnomAD
CA6928952 rs144209806	111	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402135250 CA387649012	113	N>S		No	ClinGen gnomAD
CA387648997 rs1311427431	115	Q>R		No	ClinGen gnomAD
rs368416225 RCV000920721 CA6928950	116	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs978490775 CA247277497	119	D>Y		No	ClinGen gnomAD
rs1362523545 CA387648956	121	Q>*		No	ClinGen TOPMed
rs1370805863 CA387648954	121	Q>R		No	ClinGen gnomAD
rs1566090960 CA387648939	123	R>T		No	ClinGen Ensembl
CA387648562 rs1473547761	125	V>G		No	ClinGen TOPMed gnomAD
CA387648565 rs1185642553	125	V>I		No	ClinGen gnomAD
CA6928936 rs771026159	128	M>V		No	ClinGen ExAC gnomAD
CA247273878 rs958091469	130	I>T		No	ClinGen gnomAD
rs374234147 CA6928934	130	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA247273870 rs1032202384	138	A>G		No	ClinGen Ensembl
CA387648466 rs772468040	140	E>K		No	ClinGen ExAC gnomAD
rs772468040 CA6928933	140	E>Q		No	ClinGen ExAC gnomAD
rs1230732513 CA387648429	145	I>F		No	ClinGen gnomAD
CA387648418 rs1330437846	146	Q>H		No	ClinGen gnomAD
CA387648416 rs1392315283	147	S>R		No	ClinGen TOPMed
rs1030871357 CA247273833	149	A>D		No	ClinGen TOPMed gnomAD
CA387648394 rs1319880122	150	T>A		No	ClinGen TOPMed
CA6928931 rs150917050	150	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755381883 CA6928930	151	N>D		No	ClinGen ExAC gnomAD
RCV000121126 CA159837 rs560052209	151	N>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs370615812 CA6928928	153	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs750088860 CA6928927	154	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767347946 CA6928926	156	F>L		No	ClinGen ExAC gnomAD
CA387648358 rs1458695025	156	F>L		No	ClinGen gnomAD
CA6928925 rs756942689	157	T>I		No	ClinGen ExAC gnomAD
CA247273786 rs56321896 VAR_042069	158	V>A		No	ClinGen UniProt TOPMed dbSNP
CA387648338 rs1593270599	159	S>N		No	ClinGen Ensembl
CA387648331 rs1593270596	160	I>V		No	ClinGen Ensembl
CA6928924 rs751259740	161	R>K		No	ClinGen ExAC gnomAD
rs1241614843 CA387648017	164	L>P		No	ClinGen gnomAD
CA6928907 rs751259724	166	Y>S		No	ClinGen ExAC gnomAD
CA6928906 rs201266613 COSM28038	167	T>A	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1018265700 CA247271508	171	P>S		No	ClinGen TOPMed gnomAD
rs1018265700 CA387647977	171	P>T		No	ClinGen TOPMed gnomAD
CA6928905 rs201651411	175	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6928904 rs374360215	176	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928902 rs765227645	179	Q>P		No	ClinGen ExAC gnomAD
CA387647904 rs56033040	180	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387647910 rs1229944453	180	D>H		No	ClinGen gnomAD
CA387647902 rs750445891	181	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM946477 CA6928900 rs750445891	181	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1593265275 CA387647884	184	C>Y		No	ClinGen Ensembl
CA247271467 rs369844336	185	I>T		No	ClinGen ESP TOPMed
rs761909645 CA6928898	185	I>V		No	ClinGen ExAC gnomAD
CA387647874 rs1276222671	186	S>P		No	ClinGen TOPMed
rs1363820822 CA387647857	188	S>N		No	ClinGen TOPMed
rs142392340 CA6928896	189	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320098841 CA387647832	192	P>A		No	ClinGen TOPMed
CA387647828 rs1224965356	192	P>L		No	ClinGen TOPMed
CA159843 COSM28039 VAR_054149 RCV000972168 rs146030737 RCV000121128	194	V>M	large_intestine stomach haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387647806 rs1184867250	196	W>R		No	ClinGen gnomAD
rs144349858 CA6928893	198	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA387647789 rs1244282842	198	L>P		No	ClinGen TOPMed
CA6928891 rs565606567	200	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000121127 CA159840 rs551777447	202	Q>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs897014279 CA247271443	203	G>R		No	ClinGen Ensembl
CA247270462 rs77496417	205	S>R		No	ClinGen Ensembl
rs746598319 CA6928871	206	C>R		No	ClinGen ExAC gnomAD
CA6928870 rs375998905	207	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928869 rs566654207	209	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425967366 CA387647677	213	V>I		No	ClinGen gnomAD
CA247270443 rs936520818	214	V>A		No	ClinGen Ensembl
CA6928868 rs546428168	214	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs925177359 CA247270439	215	K>I		No	ClinGen TOPMed
rs925177359 CA247270441	215	K>R		No	ClinGen TOPMed
CA387647656 rs1245416633	216	K>M		No	ClinGen TOPMed
CA247270435 rs866313760	218	E>K		No	ClinGen Ensembl
CA6928867 rs138331200	219	K>E		No	ClinGen ESP ExAC gnomAD
rs754816108 CA6928866	223	E>K		No	ClinGen ExAC gnomAD
rs1164308958 CA387647593	225	F>S		No	ClinGen TOPMed gnomAD
CA387647595 rs1335280056	225	F>V		No	ClinGen TOPMed
CA6928865 rs533263455	226	G>R		No	ClinGen 1000Genomes ExAC gnomAD
VAR_034678 RCV000121129 rs1933437 RCV001657761 CA159846	227	T>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs550617659 CA6928864	228	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1428820493 CA387647566	229	I>M		No	ClinGen TOPMed gnomAD
CA387647563 rs1460953473	230	R>K		No	ClinGen TOPMed
rs764288814 CA6928862	231	C>Y		No	ClinGen ExAC gnomAD
CA6928861 rs758649164	232	C>W		No	ClinGen ExAC gnomAD
CA387647543 rs1198841856	233	A>S		No	ClinGen TOPMed
rs141994172 CA6928860	238	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387647495 rs1253013837	240	E>A		No	ClinGen gnomAD
rs530494290 CA6928859	242	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6928858 RCV000903543 rs61729144	243	R>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387647473 rs200522693	243	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200522693 CA6928857	243	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316066931 CA387647447	247	I>M		No	ClinGen gnomAD
CA6928836 rs754176049	252	T>N		No	ClinGen ExAC gnomAD
rs766677410 CA6928835	254	Q>*		No	ClinGen ExAC gnomAD
rs766677410 CA247270273	254	Q>K		No	ClinGen ExAC gnomAD
rs1432510953 CA387647370	257	L>S		No	ClinGen gnomAD
CA6928833 rs773749124	259	Q>H		No	ClinGen ExAC gnomAD
RCV000121131 CA159852 rs587778370	262	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA387647322 rs1427837299	264	V>A		No	ClinGen gnomAD
rs117240821 CA6928832	267	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6928831 rs117240821	267	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768238783 CA6928830	269	W>S		No	ClinGen ExAC gnomAD
rs1208955978 CA387647280	270	I>M		No	ClinGen gnomAD
CA6928829 rs762533143	271	R>K		No	ClinGen ExAC gnomAD
rs1251949200 CA387647268	272	C>Y		No	ClinGen gnomAD
CA387647264 rs1226871024	273	K>E		No	ClinGen gnomAD
rs901812382 CA247270249	273	K>R		No	ClinGen TOPMed gnomAD
CA6928828 rs199643702	275	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387647244 rs1315493513	276	H>P		No	ClinGen gnomAD
CA247270246 rs923217034	278	N>H		No	ClinGen TOPMed gnomAD
CA159849 RCV000121130 rs550878210	278	N>T		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1412476257 CA387647223	279	H>R		No	ClinGen gnomAD
rs866905017 CA247270242	280	G>E		No	ClinGen Ensembl
rs781339959 CA247270241	281	F>L		No	ClinGen ExAC TOPMed gnomAD
rs779148945 CA6928824	282	G>A		No	ClinGen ExAC gnomAD
CA6928825 rs587778371	282	G>R		No	ClinGen ExAC TOPMed gnomAD
CA159855 RCV000121132 rs587778371	282	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA387647207 rs587778371	282	G>W		No	ClinGen ExAC TOPMed gnomAD
CA6928823 rs755180272	284	T>I		No	ClinGen ExAC gnomAD
rs200102131 CA247270236	288	E>D		No	ClinGen Ensembl
CA387647165 rs1189175284	288	E>G		No	ClinGen TOPMed
rs754039652 CA6928822	289	N>T		No	ClinGen ExAC gnomAD
rs780435520 CA6928821	290	K>E		No	ClinGen ExAC gnomAD
rs750925076 CA6928819	291	A>P		No	ClinGen ExAC TOPMed gnomAD
rs750925076 CA6928820	291	A>T		No	ClinGen ExAC TOPMed gnomAD
rs530568732 CA6928817	293	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559157798 CA6928808 COSM1726584	295	G>D	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA6928807 rs377689782	298	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA247270147 rs1036579909	301	S>G		No	ClinGen TOPMed
CA387647038 rs1482272458	305	T>A		No	ClinGen TOPMed
CA6928806 rs746967379	306	N>H		No	ClinGen ExAC TOPMed gnomAD
CA387647030 rs1418329483	306	N>S		No	ClinGen TOPMed
rs1317803354 CA387647024	307	R>K		No	ClinGen TOPMed gnomAD
rs866321206 CA247270126	308	T>A		No	ClinGen Ensembl
CA247270122 rs928259059	309	M>T		No	ClinGen TOPMed gnomAD
CA247270119 rs201692456	310	I>L		No	ClinGen Ensembl
rs1279372452 CA387646998	311	R>L		No	ClinGen TOPMed gnomAD
COSM550908 CA387646993 rs1279372452	311	R>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1451041380 CA387646982	312	I>T		No	ClinGen gnomAD
CA6928805 rs779097862	317	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1357498394 CA387646913	318	S>A		No	ClinGen TOPMed
rs1304979545 CA387646900	319	S>A		No	ClinGen gnomAD
rs1303886643 CA387646871	322	R>G		No	ClinGen TOPMed
rs373170476 CA387646846	323	N>K		No	ClinGen ESP ExAC gnomAD
CA6928801 rs750726862	324	D>E		No	ClinGen ExAC TOPMed gnomAD
CA387646836 rs1402405285	324	D>G		No	ClinGen gnomAD
rs35602083 CA159858 COSM28040 VAR_042070 RCV000121133	324	D>N	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387646807 rs1277296773	326	G>E		No	ClinGen TOPMed
CA6928799 rs757718855	326	G>R		No	ClinGen ExAC gnomAD
CA6928797 rs763633405	329	T>A		No	ClinGen ExAC gnomAD
CA387646762 rs762424747	329	T>I		No	ClinGen ExAC gnomAD
rs762424747 CA6928796	329	T>N		No	ClinGen ExAC gnomAD
rs752394054 CA6928795	331	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6928794 rs764732883	333	S>L		No	ClinGen ExAC gnomAD
rs1283936288 CA387646705	334	K>R		No	ClinGen TOPMed gnomAD
rs759278648 CA6928793	336	P>L		No	ClinGen ExAC gnomAD
rs915686110 CA247270064	341	L>M		No	ClinGen TOPMed
CA6928791 rs766309690	341	L>S		No	ClinGen ExAC gnomAD
CA6928789 rs543702185	343	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA247270061 rs543702185	343	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6928790 rs543702185	343	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567771805 CA6928788	344	I>T		No	ClinGen ExAC gnomAD
rs371030554 CA6928786	345	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395350685 CA387646488	346	E>G		No	ClinGen TOPMed
rs773063445 CA6928771	347	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6928770 rs767299779	348	G>A		No	ClinGen ExAC TOPMed gnomAD
CA387646446 rs537215681	349	F>C		No	ClinGen 1000Genomes ExAC gnomAD
rs141185874 CA247269741	349	F>L		No	ClinGen ESP gnomAD
rs537215681 CA6928769	349	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs775390972 CA6928768	350	I>V		No	ClinGen ExAC
CA247269717 rs935485564	352	A>P		No	ClinGen Ensembl
CA387646411 rs1166598700	352	A>V		No	ClinGen gnomAD
CA6928766 rs769899577	353	T>N		No	ClinGen ExAC gnomAD
rs746064889 CA6928765	356	S>G		No	ClinGen ExAC gnomAD
rs776892297 CA6928764	356	S>N		No	ClinGen ExAC gnomAD
rs34172843 CA387646332	358	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_042071 CA159861 rs34172843 RCV000908807 RCV000121134	358	D>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1235446603 CA387646294	361	I>T		No	ClinGen gnomAD
rs1215666834 CA387646299	361	I>V		No	ClinGen TOPMed
CA6928762 rs778216126	362	D>G		No	ClinGen ExAC gnomAD
rs747273765 CA6928763	362	D>N		No	ClinGen ExAC gnomAD
CA6928761 rs554555372	363	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA387646258 rs1231097306	364	Y>C		No	ClinGen TOPMed
COSM28041 rs1044362855 CA247269702	364	Y>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6928759 rs778256828	367	F>I		No	ClinGen ExAC gnomAD
CA387646224 rs778256828	367	F>V		No	ClinGen ExAC gnomAD
rs1274622827 CA387646144	373	F>L		No	ClinGen TOPMed
rs753528763 CA6928757	378	Q>K		No	ClinGen ExAC gnomAD
CA6928756 rs766061285	379	I>V		No	ClinGen ExAC gnomAD
CA387646033 rs1468619884	382	T>A		No	ClinGen TOPMed
rs755845031 CA6928755	382	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6928754 rs750134667	383	W>*		No	ClinGen ExAC
CA247269670 rs1041412646	383	W>C		No	ClinGen TOPMed
CA387645979 rs1164655708	386	S>C		No	ClinGen gnomAD
CA6928752 rs761621550	386	S>P		No	ClinGen ExAC gnomAD
rs751562024 COSM946473 CA6928751	387	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1178506592 CA387645930	391	P>R		No	ClinGen gnomAD
CA387645899 rs1412824771	394	Q>K		No	ClinGen TOPMed
CA159864 rs587778372 RCV000121135	394	Q>R		No	ClinGen ClinVar Ensembl dbSNP
rs765282935 CA6928750	396	G>R		No	ClinGen ExAC gnomAD
CA387645874 rs765282935	396	G>S		No	ClinGen ExAC gnomAD
CA387645866 rs1231767049	396	G>V		No	ClinGen gnomAD
CA387645831 rs1437406402	399	N>D		No	ClinGen gnomAD
rs776699712 CA6928748	400	G>R		No	ClinGen ExAC gnomAD
CA387644318 rs1455153668	403	I>M		No	ClinGen TOPMed gnomAD
CA247264463 rs754582231	403	I>V		No	ClinGen gnomAD
rs1192890882 CA387644183	411	H>Q		No	ClinGen gnomAD
CA387644188 rs1253092354	411	H>R		No	ClinGen gnomAD
CA6928733 rs763948782	412	Q>R		No	ClinGen ExAC
rs372040990 CA247264453	413	P>S		No	ClinGen ESP TOPMed gnomAD
RCV000965256 RCV000121115 rs56090538 VAR_061291 CA159804	417	I>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA247264437 rs753870201	423	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6928732 rs753870201	423	D>V		No	ClinGen ExAC TOPMed gnomAD
rs766480411 CA6928731	424	D>N		No	ClinGen ExAC gnomAD
rs200949858 CA6928730	425	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6928728 rs772310337	427	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6928727 rs762305411	428	T>A		No	ClinGen ExAC gnomAD
CA387643993 rs1385545762	428	T>I		No	ClinGen gnomAD
rs931273270 CA247264419	429	K>T		No	ClinGen TOPMed
CA6928726 rs201905189	432	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6928722 rs145857550	434	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145857550 CA6928723	434	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486101941 CA387643650	440	Q>*		No	ClinGen gnomAD
rs139990734 CA247263835	441	V>M		No	ClinGen ESP
rs770571247 CA6928703	443	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770571247 CA6928702 COSM432269	443	A>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777517159 CA6928700	445	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758240051 CA6928699	445	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201256911 CA6928697	446	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375445830 CA6928695	447	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928694 rs144444671	450	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387643281 rs1465017434	455	D>E		No	ClinGen gnomAD
rs1421436457 CA387643212	459	L>*		No	ClinGen gnomAD
rs147819024 CA247263797	462	W>R		No	ClinGen 1000Genomes
CA6928689 rs776000316	463	T>A		No	ClinGen ExAC gnomAD
CA6928688 rs765715484	463	T>N		No	ClinGen ExAC gnomAD
CA6928687 rs759986816	466	K>E		No	ClinGen ExAC gnomAD
rs559604139 CA6928686	466	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1456822722 CA387643022	469	D>N		No	ClinGen gnomAD
CA6928683 rs772907680	471	S>C		No	ClinGen ExAC TOPMed gnomAD
CA387642967 rs779318784	474	C>G		No	ClinGen ExAC gnomAD
CA6928650 rs779318784	474	C>S		No	ClinGen ExAC gnomAD
CA6928649 rs149057582	475	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262921844 CA387642960	475	T>I		No	ClinGen gnomAD
RCV000953670 CA6928648 rs149057582	475	T>P		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6928647 rs766805610	476	E>K		No	ClinGen ExAC TOPMed gnomAD
CA387642944 rs761185360	477	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761185360 CA6928646	477	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1348821828 CA387642931	479	T>I		No	ClinGen TOPMed
rs1278665053 CA387642935	479	T>P		No	ClinGen TOPMed
CA6928644 rs146341559	480	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344206842 CA387642927	480	E>V		No	ClinGen gnomAD
CA387642707 rs1432817949	483	W>C		No	ClinGen gnomAD
rs1326766632 CA387642633	488	N>S		No	ClinGen gnomAD
rs1302960705 CA387642622	489	R>G		No	ClinGen gnomAD
CA387642608 rs1470658707	489	R>S		No	ClinGen gnomAD
CA6928641 rs767052933	490	K>R		No	ClinGen ExAC gnomAD
CA247263509 rs141942072	493	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs141942072 CA6928640	493	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566072539 CA387642544	494	Q>*		No	ClinGen Ensembl
CA6928638 rs550449543	495	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs773932256 CA387642530	495	W>G		No	ClinGen ExAC gnomAD
CA6928639 rs773932256	495	W>R		No	ClinGen ExAC gnomAD
rs762585560 CA6928637	497	S>L		No	ClinGen ExAC gnomAD
rs762585560 CA387642496	497	S>W		No	ClinGen ExAC gnomAD
rs1593242596 CA387642457	500	T>P		No	ClinGen Ensembl
rs1195767772 CA387642440	501	L>V		No	ClinGen TOPMed gnomAD
CA6928634 rs745828241	503	M>I		No	ClinGen ExAC
CA387642409 rs1192006372	503	M>V		No	ClinGen gnomAD
CA247263439 rs1046617403	504	S>N		No	ClinGen TOPMed gnomAD
CA387642389 rs1160891524	504	S>R		No	ClinGen TOPMed
CA387642388 rs1259256212	505	E>K		No	ClinGen gnomAD
CA387642369 rs1275935565	507	I>M		No	ClinGen gnomAD
rs202109868 CA6928633	507	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387642366 rs1216208857	508	K>Q		No	ClinGen gnomAD
rs1593242499 CA387642360	509	G>R		No	ClinGen Ensembl
rs1566072436 CA387642354	509	G>V		No	ClinGen Ensembl
rs748392919 CA6928631	512	V>F		No	ClinGen ExAC gnomAD
CA6928632 rs748392919	512	V>I		No	ClinGen ExAC gnomAD
CA6928630 rs547779728	513	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA387642334 rs1334068439	513	K>Q		No	ClinGen TOPMed
rs535356131 COSM140710 CA247263435	519	S>Y	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1404268220 CA387642276	521	G>A		No	ClinGen TOPMed
CA6928626 rs756580988	522	T>I		No	ClinGen ExAC gnomAD
rs780421585 CA6928628	522	T>P		No	ClinGen ExAC TOPMed gnomAD
rs780421585 CA6928627	522	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6928625 rs527809498	526	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1289193122 CA387642200	530	N>H		No	ClinGen TOPMed
rs1221770410 CA387642176	531	S>C		No	ClinGen TOPMed
rs1168970545 CA387642168	532	P>S		No	ClinGen TOPMed gnomAD
CA387642016 rs763688464	533	G>D		No	ClinGen ExAC gnomAD
CA6928604 rs763688464	533	G>V		No	ClinGen ExAC gnomAD
rs757954859 CA6928603	536	P>S		No	ClinGen ExAC gnomAD
rs1220647027 CA387641956	537	F>L		No	ClinGen gnomAD
CA6928602 rs752449869	537	F>V		No	ClinGen ExAC gnomAD
CA6928601 rs765114589	538	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1320131173 CA387641952	538	I>V		No	ClinGen gnomAD
rs776576377 CA6928599	541	N>H		No	ClinGen ExAC gnomAD
CA6928597 rs144247060	542	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774257127 CA6928596	543	S>L		No	ClinGen ExAC gnomAD
rs768828525 CA6928595	545	Y>C		No	ClinGen ExAC gnomAD
rs941878758 CA247262920	546	A>T		No	ClinGen TOPMed
CA6928593 rs775755684	547	T>P		No	ClinGen ExAC
CA6928592 rs374287890	548	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387641727 rs1335427779	549	G>D		No	ClinGen TOPMed gnomAD
rs1347330463 CA387641720	550	V>I		No	ClinGen gnomAD
rs746169422 CA6928591	554	F>S		No	ClinGen ExAC gnomAD
rs771300239 CA6928590	555	I>N		No	ClinGen ExAC gnomAD
CA6928589 rs771300239	555	I>T		No	ClinGen ExAC gnomAD
CA387641589 rs1167791509	555	I>V		No	ClinGen TOPMed
CA6928588 rs747589437	556	V>A		No	ClinGen ExAC gnomAD
rs780216662 CA247262894	556	V>I		No	ClinGen Ensembl
CA159807 RCV001636679 VAR_042072 rs35958982 COSM28043 RCV000121116	557	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387641517 rs1170049155	558	L>S		No	ClinGen TOPMed gnomAD
rs1051730013 CA247262886	559	T>I		No	ClinGen Ensembl
rs370618794 CA247262882 COSM1366200	561	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP
CA387641419 rs1190567462	563	C>Y		No	ClinGen gnomAD
CA6928585 rs778646065	564	H>Q		No	ClinGen ExAC
CA6928584 rs754692199	565	K>E		No	ClinGen ExAC TOPMed gnomAD
rs753639225 CA6928583	565	K>T		No	ClinGen ExAC gnomAD
CA387641336 rs1593240949	566	Y>C		No	ClinGen Ensembl
rs766230032 CA6928582	567	K>Q		No	ClinGen ExAC gnomAD
CA6928569 rs772714344	569	Q>L		No	ClinGen ExAC gnomAD
rs747607608 CA6928568	570	F>C		No	ClinGen ExAC gnomAD
CA6928566 rs189166547	575	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1593240751 CA387641056	576	L>V		No	ClinGen Ensembl
rs1035571011 CA247262810	577	Q>*		No	ClinGen Ensembl
rs1218475798 CA387641007	579	V>I		No	ClinGen gnomAD
rs779699008 CA6928564	581	V>L		No	ClinGen ExAC gnomAD
rs756002946 CA6928563	582	T>A		No	ClinGen ExAC gnomAD
CA387640944 rs761757421	583	G>D		No	ClinGen ExAC TOPMed gnomAD
rs767430269 CA6928561	583	G>S		No	ClinGen ExAC gnomAD
rs761757421 CA6928560	583	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6928559 rs752729752	584	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1295433817 CA387640867	588	E>G		No	ClinGen TOPMed
COSM1658774 CA6928558 rs765337935	588	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387640834 rs759729774	590	F>I		No	ClinGen ExAC TOPMed gnomAD
CA6928556 rs141380985 COSM3727819	590	F>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
CA6928557 rs759729774 COSM3727819	590	F>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6928551 rs773466203	592	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387640763 rs1057520021	594	F>V		No	ClinGen gnomAD
CA6928549 rs748696886	595	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6928548 rs773968505	596	E>*		No	ClinGen ExAC gnomAD
CA387640695 rs1312380044	598	E>K		No	ClinGen TOPMed
rs1275470574 CA387640676	598	E>V		No	ClinGen gnomAD
rs745627198 CA6928544	602	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779688631 CA6928545	602	K>R		No	ClinGen ExAC gnomAD
CA387640537 rs1465068581	606	P>T		No	ClinGen gnomAD
CA387640474 rs1207508622	609	N>K		No	ClinGen TOPMed
CA6928540 rs751544883	613	G>R		No	ClinGen ExAC gnomAD
rs774881420 CA6928528	614	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1325270750 CA387640348	615	V>L		No	ClinGen gnomAD
rs1051926385 CA247262657	616	L>I		No	ClinGen TOPMed gnomAD
CA387640301 rs1442266284	619	G>D		No	ClinGen gnomAD
CA6928526 rs745546914	623	K>R		No	ClinGen ExAC gnomAD
rs780941129 CA6928525	624	V>A		No	ClinGen ExAC gnomAD
rs933572533 CA247262653	626	N>S		No	ClinGen TOPMed gnomAD
CA247262650 rs997265952	627	A>S		No	ClinGen TOPMed gnomAD
COSM18606 rs997265952 CA387640182	627	A>T	large_intestine central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1593240299 CA387640161	628	T>I		No	ClinGen Ensembl
CA6928523 rs746946336	629	A>T		No	ClinGen ExAC gnomAD
rs777621655 CA387640135	630	Y>C		No	ClinGen ExAC gnomAD
rs777621655 CA6928522	630	Y>S		No	ClinGen ExAC gnomAD
rs1038763935 CA247262647	632	I>V		No	ClinGen TOPMed
CA6928520 rs753905654	633	S>N		No	ClinGen ExAC TOPMed gnomAD
rs375859256 CA6928519	634	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375859256 CA6928518	634	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928517 rs750664430	636	G>E		No	ClinGen ExAC gnomAD
CA247262622 rs746926889	637	V>F		No	ClinGen Ensembl
rs1276477642 CA387639952	643	V>D		No	ClinGen gnomAD
rs762198688 CA6928514	643	V>I		No	ClinGen ExAC gnomAD
rs1216374794 CA387639943	644	K>E		No	ClinGen TOPMed
rs928338592 CA247296063	648	E>G		No	ClinGen gnomAD
CA387652305 rs1271652776	650	A>E		No	ClinGen TOPMed
CA247296059 rs997305409	651	D>E		No	ClinGen TOPMed
CA6928496 rs751928780	652	S>N		No	ClinGen ExAC TOPMed gnomAD
rs764406387 CA6928495	653	S>A		No	ClinGen ExAC gnomAD
CA387652266 rs1474227746	656	E>A		No	ClinGen TOPMed
CA387652243 rs1566066717	659	M>I		No	ClinGen Ensembl
CA6928493 rs753200838	659	M>V		No	ClinGen ExAC gnomAD
rs758906408 CA6928491	664	M>I		No	ClinGen ExAC gnomAD
rs758906408 CA6928492	664	M>I		No	ClinGen ExAC gnomAD
rs776133815 CA6928490	665	M>I		No	ClinGen ExAC gnomAD
CA247296003 rs967108282	665	M>V		No	ClinGen Ensembl
CA387652195 rs1200462604	666	T>I		No	ClinGen TOPMed gnomAD
rs772963831 CA6928488	668	L>M		No	ClinGen ExAC gnomAD
rs772963831 CA6928487	668	L>V		No	ClinGen ExAC gnomAD
CA387652162 rs149216274	671	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1423397744 CA387652167	671	H>Y		No	ClinGen TOPMed
rs1367367961 CA387652161	672	E>K		No	ClinGen TOPMed
CA6928485 rs748106520	674	I>T		No	ClinGen ExAC gnomAD
rs1352217777 CA387652131	676	N>S		No	ClinGen gnomAD
rs1338788116 CA387652112	680	A>T		No	ClinGen TOPMed gnomAD
CA6928483 COSM786 rs372303125	680	A>V	thyroid haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs887807138 CA247295840	681	C>S		No	ClinGen TOPMed gnomAD
rs887807138 CA387652104	681	C>Y		No	ClinGen TOPMed gnomAD
rs757518348 CA6928481	684	S>L		No	ClinGen ExAC gnomAD
rs199906407 RCV000121117 CA159810	684	S>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1057519765 CA387652061	687	I>V		No	ClinGen gnomAD
COSM1191160 rs759272576 CA247295219	691	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387652011 rs1221467960	694	C>R		No	ClinGen gnomAD
CA6928457 rs748414088	696	Y>C		No	ClinGen ExAC gnomAD
rs779366241 CA6928456	698	D>G		No	ClinGen ExAC gnomAD
CA247295214 rs923450690	698	D>N		No	ClinGen Ensembl
CA387651960 rs1403916427	701	N>I		No	ClinGen gnomAD
CA6928455 rs774511256	702	Y>C		No	ClinGen ExAC gnomAD
CA247295182 rs774511256	702	Y>S		No	ClinGen ExAC gnomAD
rs754396362 CA6928454	704	R>S		No	ClinGen ExAC gnomAD
rs765864291 CA6928453	705	S>N		No	ClinGen ExAC gnomAD
rs1172758073 CA387651891	711	H>R		No	ClinGen TOPMed
rs976218231 CA247295154	712	R>K		No	ClinGen TOPMed gnomAD
rs976218231 CA387651883	712	R>M		No	ClinGen TOPMed gnomAD
CA387651881 rs1156786993	712	R>S		No	ClinGen gnomAD
CA247295145 rs766829319	714	W>R		No	ClinGen TOPMed gnomAD
rs755691324 CA6928452	715	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1452494951 CA387651851	717	I>F		No	ClinGen Ensembl
rs767025952 CA6928450	721	H>Q		No	ClinGen ExAC gnomAD
CA6928451 rs749956357	721	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6928449 rs761555525	722	N>D		No	ClinGen ExAC gnomAD
CA6928448 rs773983010	722	N>S		No	ClinGen ExAC
rs762970489 CA387651777	727	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762970489 CA6928446	727	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775634768 CA6928445	728	T>I		No	ClinGen ExAC gnomAD
rs769857405 CA6928444	733	P>S		No	ClinGen ExAC gnomAD
CA6928442 rs534055748	734	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6928441 rs772146579	735	S>F		No	ClinGen ExAC gnomAD
CA6928408 rs765165741	736	S>R		No	ClinGen ExAC gnomAD
COSM28046 rs148592477 CA6928406	737	M>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6928407 rs759369573	737	M>L		No	ClinGen ExAC TOPMed gnomAD
CA247293850 rs759369573 COSM1366192	737	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6928403 rs144381194	738	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144381194 CA6928402	738	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928404 rs146649334	738	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420309811 CA387651690	739	G>A		No	ClinGen TOPMed
CA387651685 rs1462100311	740	S>L		No	ClinGen TOPMed
rs746353646 CA6928398	742	E>D		No	ClinGen ExAC gnomAD
CA6928400 rs775807044	742	E>K		No	ClinGen ExAC gnomAD
rs1269946798 CA387651648	746	H>N		No	ClinGen gnomAD
rs781675235 CA6928397	747	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387651622 rs1355239392	749	S>L		No	ClinGen gnomAD
rs1566064214 CA387651612	751	Q>E		No	ClinGen Ensembl
CA247293777 rs375798213	759	S>A		No	ClinGen ESP
rs758095462 CA6928391	761	H>R		No	ClinGen ExAC gnomAD
rs777457578 CA6928392	761	H>Y		No	ClinGen ExAC gnomAD
rs754604134 CA6928369	764	D>G		No	ClinGen ExAC gnomAD
rs146853291 CA6928390	764	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6928368 rs749065149	765	E>V		No	ClinGen ExAC gnomAD
CA387651497 rs1322506485	766	I>N		No	ClinGen gnomAD
rs1411473584 CA387651477	769	E>K		No	ClinGen gnomAD
rs149791635 CA6928366	771	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs939448061 CA247292920	773	R>S		No	ClinGen Ensembl
CA6928365 rs750415487	774	L>V		No	ClinGen ExAC gnomAD
CA387651428 rs1268548071	776	E>K		No	ClinGen TOPMed
CA247292919 rs928015714	777	E>K		No	ClinGen TOPMed gnomAD
rs764151292 CA6928363	778	E>K		No	ClinGen ExAC gnomAD
CA6928362 rs201232010	779	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452571288 CA387651404	779	D>Y		No	ClinGen gnomAD
CA6928360 rs150581819	781	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474119276 CA387651349	787	D>Y		No	ClinGen gnomAD
CA6928355 rs773923352	790	C>S		No	ClinGen ExAC gnomAD
rs772714284 CA6928354	791	F>L		No	ClinGen ExAC gnomAD
CA6928352 rs773758373	793	Y>C		No	ClinGen ExAC gnomAD
CA387651300 rs1244508922	794	Q>R		No	ClinGen gnomAD
CA6928351 rs139776505	795	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748939415 CA387651279	797	K>N		No	ClinGen ExAC TOPMed gnomAD
rs769640419 CA6928348	806	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6928319 rs755081448	808	V>I		No	ClinGen ExAC gnomAD
rs201208287 CA247289442	814	A>S		No	ClinGen ExAC TOPMed gnomAD
rs201208287 COSM3399305 CA6928317	814	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768037348 CA6928314	817	V>M		No	ClinGen ExAC gnomAD
CA6928313 rs762392769	819	V>I		No	ClinGen ExAC gnomAD
CA6928312 rs554971395	820	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764665398 CA6928311	821	H>Y		No	ClinGen ExAC gnomAD
rs148480385 CA6928309	822	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA387650268 rs1221240514	824	V>A		No	ClinGen gnomAD
CA6928308 rs769394501	824	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1403972292 CA387650256	826	K>R		No	ClinGen gnomAD
rs916316741 CA247289393	827	I>L		No	ClinGen TOPMed
rs1593220239 CA387650248	827	I>R		No	ClinGen Ensembl
rs776386970 CA6928306	828	C>Y		No	ClinGen ExAC gnomAD
CA6928305 rs770772264 COSM1493117	834	R>*	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746962291 CA6928304	837	M>T		No	ClinGen ExAC gnomAD
CA6928299 rs756377225	843	V>I		No	ClinGen ExAC gnomAD
rs1479603384 CA387650151	844	V>I		No	ClinGen gnomAD
rs746145338 CA6928298	845	R>S		No	ClinGen ExAC gnomAD
rs535289665 CA6928297	847	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1227747438 CA387650112	848	A>S		No	ClinGen gnomAD
rs959896930 CA247287435	849	R>C		No	ClinGen TOPMed gnomAD
COSM354829 rs201923726 CA6928274	849	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA387650108 rs959896930	849	R>S		No	ClinGen TOPMed gnomAD
rs753361791 CA6928272	852	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387650093 rs753361791	852	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6928271 rs773272572	856	A>V		No	ClinGen ExAC gnomAD
rs568745490 CA6928268	858	E>K		No	ClinGen ExAC TOPMed gnomAD
rs903856095 CA247287392	859	S>N		No	ClinGen TOPMed gnomAD
rs774360726 CA6928266	860	L>P		No	ClinGen ExAC gnomAD
CA6928265 rs768723625	861	F>L		No	ClinGen ExAC gnomAD
rs1385092955 CA387650014	863	G>A		No	ClinGen gnomAD
CA387650015 rs1385092955	863	G>D		No	ClinGen gnomAD
rs753753892 CA247287359	864	I>V		No	ClinGen gnomAD
CA247287337 rs759638195	865	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs759638195 CA6928264	865	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs201398123 CA247287332	866	T>A		No	ClinGen gnomAD
rs201398123 CA387649999	866	T>S		No	ClinGen gnomAD
CA6928261 rs368432815	870	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224002756 CA387649946	873	S>P		No	ClinGen gnomAD
CA247287313 rs868802040	874	Y>C		No	ClinGen Ensembl
rs1367156928 CA387649922	876	I>M		No	ClinGen TOPMed gnomAD
CA387649924 rs1280596886	876	I>T		No	ClinGen TOPMed
rs776952835 CA6928256	880	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6928255 rs370459694	881	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337282620 CA387649892	881	I>V		No	ClinGen gnomAD
CA387649851 rs1423011599	885	G>V		No	ClinGen Ensembl
rs755720573 CA6928236	887	N>S		No	ClinGen ExAC gnomAD
rs142796469 CA247287004	890	P>R		No	ClinGen ESP
rs866751216 COSM304457 CA247287001	891	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM184413 CA247286986 rs1048919218	893	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs75849452 CA6928233	894	V>A		No	ClinGen ExAC
CA6928234 rs577794071	894	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6928232 rs751366614	897	N>K		No	ClinGen ExAC gnomAD
CA387649762 rs1204514478	899	Y>*		No	ClinGen gnomAD
rs764027375 CA6928231	900	K>R		No	ClinGen ExAC gnomAD
rs1264826559 CA387649738	903	Q>P		No	ClinGen TOPMed gnomAD
CA6928230 rs539980970	904	N>S		No	ClinGen ExAC gnomAD
CA387649719 rs1478647878	906	F>L		No	ClinGen TOPMed
rs1167788745 CA387649710	907	K>Q		No	ClinGen TOPMed
rs200909894 CA247286970	908	M>V		No	ClinGen 1000Genomes gnomAD
rs1327136575 CA387649693	909	D>G		No	ClinGen TOPMed gnomAD
rs201504848 CA6928228	909	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318196723 CA387649685	910	Q>R		No	ClinGen gnomAD
CA6928226 rs773189409	916	E>G		No	ClinGen ExAC gnomAD
CA387649646 rs1337882825	916	E>K		No	ClinGen gnomAD
CA387649645 rs1337882825	916	E>Q		No	ClinGen gnomAD
CA6928200 rs764308917	918	I>M		No	ClinGen ExAC gnomAD
rs1428096626 CA387649627	918	I>T		No	ClinGen gnomAD
rs1459482249 CA387649603	920	I>S		No	ClinGen TOPMed
rs763324475 CA6928199	921	I>V		No	ClinGen ExAC TOPMed gnomAD
CA247286586 rs974980406	922	M>T		No	ClinGen Ensembl
CA387649569 rs1361689773	925	C>Y		No	ClinGen gnomAD
CA387649558 rs1290165441	926	W>*		No	ClinGen gnomAD
rs1566057194 CA387649548	928	F>L		No	ClinGen Ensembl
CA6928197 rs770301265	929	D>Y		No	ClinGen ExAC gnomAD
CA387649529 rs1280498093	930	S>L		No	ClinGen TOPMed
CA6928195 rs367849862	931	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs770630954 CA6928194	933	R>W		No	ClinGen ExAC gnomAD
rs1566057125 CA387649477	936	F>S		No	ClinGen Ensembl
CA6928190 rs747936727	937	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6928191 rs758146765	937	P>S		No	ClinGen ExAC gnomAD
rs1266031911 CA387649454	938	N>T		No	ClinGen TOPMed
CA6928188 rs548609046	941	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387649378 rs1265089504	945	C>R		No	ClinGen TOPMed
rs943415452 CA247286522	945	C>Y		No	ClinGen TOPMed
COSM1207260 rs781248096 CA6928186	946	Q>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387649324 rs1176710218	949	D>E		No	ClinGen gnomAD
CA247286512 rs983637380	949	D>V		No	ClinGen Ensembl
CA159816 RCV000121119 rs145998293 COSM94335	953	A>V	ovary endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6928166 rs751604744	954	M>I		No	ClinGen ExAC gnomAD
rs367817562 CA6928165	955	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6928164 rs758631139	956	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1325311358 CA387648282	957	N>Y		No	ClinGen gnomAD
rs1381793468 CA387648274	958	V>L		No	ClinGen TOPMed
rs1218064764 CA387648259	960	G>D		No	ClinGen gnomAD
CA6928162 rs149473536	961	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA247279376 rs149473536	961	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6928161 rs373674960	961	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA387648254 rs373674960	961	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001491847 CA159819 rs138003347 RCV000121120	963	S>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147467327 COSM108297 CA247279370	964	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA387648234 rs766953291	965	C>G		No	ClinGen ExAC TOPMed gnomAD
CA6928159 rs766953291	965	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6928158 rs761305303	965	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1430165474 CA387648225	966	P>R		No	ClinGen TOPMed gnomAD
rs371259230 CA6928157	967	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387648201 rs1431460944	970	Q>K		No	ClinGen gnomAD
rs191501493 CA6928156 COSM1207263	973	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs144397269 RCV000121122 RCV000898150 CA159825	973	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763135511 CA247279359 COSM1207262	976	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA387648140 rs1179709348	979	M>L		No	ClinGen TOPMed
CA387648116 rs1380387960	982	G>R		No	ClinGen gnomAD
CA6928154 rs140123333	984	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs587778369 RCV000121121 COSM946463 CA159822	986	P>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA387648094 COSM136934 rs1460152638	986	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1049983752 CA247279317	987	Q>*		No	ClinGen Ensembl
rs74041526 RCV000884013 RCV000121123 CA159828	988	A>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs74041526 CA387648082	988	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA247279305 rs901141865	988	A>V		No	ClinGen TOPMed
rs1593200354 CA387648066	990	V>G		No	ClinGen Ensembl
RCV000121124 rs573326027 CA159831	991	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1297154409 CA387648056	992	D>H		No	ClinGen gnomAD
CA247279253 rs968020606	993	S>L		No	ClinGen TOPMed gnomAD
CA6928149 rs375516435	993	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs187882824 CA247279243	994	S>Q		No	ClinGen 1000Genomes

1 associated diseases with P36888

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:11090077, ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097, ECO:0000269|PubMed:16266983, ECO:0000269|PubMed:18305215, ECO:0000269|PubMed:8946930, ECO:0000269|PubMed:9737679}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase.

Without disease ID

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:11090077, ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097, ECO:0000269|PubMed:16266983, ECO:0000269|PubMed:18305215, ECO:0000269|PubMed:8946930, ECO:0000269|PubMed:9737679}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase.

14 regional properties for P36888

Type	Name	Position	InterPro Accession
domain	Receptor L-domain	52 - 163	IPR000494-1
domain	Receptor L-domain	359 - 470	IPR000494-2
domain	Protein kinase domain	1013 - 1288	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	1013 - 1279	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class II, conserved site	1173 - 1181	IPR002011
domain	Fibronectin type III	496 - 602	IPR003961-1
domain	Fibronectin type III	624 - 821	IPR003961-2
domain	Fibronectin type III	841 - 937	IPR003961-3
domain	Furin-like cysteine-rich domain	179 - 340	IPR006211
repeat	Furin-like repeat	231 - 281	IPR006212
active_site	Tyrosine-protein kinase, active site	1145 - 1157	IPR008266
binding_site	Protein kinase, ATP binding site	1019 - 1047	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	1013 - 1280	IPR020635
domain	Insulin receptor, trans-membrane domain	930 - 977	IPR040969

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Membrane; Single-pass type I membrane protein Endoplasmic reticulum lumen	Constitutively activated mutant forms with internal tandem duplications are less efficiently transported to the cell surface and a significant proportion is retained in an immature form in the endoplasmic reticulum lumen The activated kinase is rapidly targeted for degradation
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF356	RECEPTOR-TYPE TYROSINE-PROTEIN KINASE FLT3
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endosome membrane	The lipid bilayer surrounding an endosome.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cytokine receptor activity	Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
glucocorticoid receptor binding	Binding to a nuclear glucocorticoid receptor.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
protein self-association	Binding to a domain within the same polypeptide.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein-containing complex binding	Binding to a macromolecular complex.
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.
vascular endothelial growth factor-activated receptor activity	Combining with a vascular endothelial growth factor (VEGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.

24 GO annotations of biological process

Name	Definition
animal organ regeneration	The regrowth of a lost or destroyed animal organ.
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
cellular response to cytokine 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 cytokine stimulus.
cellular response to glucocorticoid 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 glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.
common myeloid progenitor cell proliferation	The multiplication or reproduction of common myeloid progenitor cells, resulting in the expansion of a cell population. A common myeloid progenitor cell is a progenitor cell committed to the myeloid lineage.
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
dendritic cell differentiation	The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
leukocyte homeostasis	The process of regulating the proliferation and elimination of cells of the immune system such that the total number of cells of a particular cell type within a whole or part of an organism is stable over time in the absence of an outside stimulus.
lymphocyte proliferation	The expansion of a lymphocyte population by cell division.
myeloid progenitor cell differentiation	The process in which a precursor cell type acquires the specialized features of a myeloid progenitor cell. Myeloid progenitor cells include progenitor cells for any of the myeloid lineages.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of 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 MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of 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 tyrosine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
pro-B cell differentiation	The process in which a precursor cell type acquires the specialized features of a pro-B cell. Pro-B cells are the earliest stage of the B cell lineage and undergo heavy chain D and J gene rearrangements, although they are not fully committed.
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 apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
response to organonitrogen compound	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 organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.
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.

96 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPALARDGGQ	LPLLVVFSAM	IFGTITNQDL	PVIKCVLINH	KNNDSSVGKS	SSYPMVSESP
70	80	90	100	110	120
EDLGCALRPQ	SSGTVYEAAA	VEVDVSASIT	LQVLVDAPGN	ISCLWVFKHS	SLNCQPHFDL
130	140	150	160	170	180
QNRGVVSMVI	LKMTETQAGE	YLLFIQSEAT	NYTILFTVSI	RNTLLYTLRR	PYFRKMENQD
190	200	210	220	230	240
ALVCISESVP	EPIVEWVLCD	SQGESCKEES	PAVVKKEEKV	LHELFGTDIR	CCARNELGRE
250	260	270	280	290	300
CTRLFTIDLN	QTPQTTLPQL	FLKVGEPLWI	RCKAVHVNHG	FGLTWELENK	ALEEGNYFEM
310	320	330	340	350	360
STYSTNRTMI	RILFAFVSSV	ARNDTGYYTC	SSSKHPSQSA	LVTIVEKGFI	NATNSSEDYE
370	380	390	400	410	420
IDQYEEFCFS	VRFKAYPQIR	CTWTFSRKSF	PCEQKGLDNG	YSISKFCNHK	HQPGEYIFHA
430	440	450	460	470	480
ENDDAQFTKM	FTLNIRRKPQ	VLAEASASQA	SCFSDGYPLP	SWTWKKCSDK	SPNCTEEITE
490	500	510	520	530	540
GVWNRKANRK	VFGQWVSSST	LNMSEAIKGF	LVKCCAYNSL	GTSCETILLN	SPGPFPFIQD
550	560	570	580	590	600
NISFYATIGV	CLLFIVVLTL	LICHKYKKQF	RYESQLQMVQ	VTGSSDNEYF	YVDFREYEYD
610	620	630	640	650	660
LKWEFPRENL	EFGKVLGSGA	FGKVMNATAY	GISKTGVSIQ	VAVKMLKEKA	DSSEREALMS
670	680	690	700	710	720
ELKMMTQLGS	HENIVNLLGA	CTLSGPIYLI	FEYCCYGDLL	NYLRSKREKF	HRTWTEIFKE
730	740	750	760	770	780
HNFSFYPTFQ	SHPNSSMPGS	REVQIHPDSD	QISGLHGNSF	HSEDEIEYEN	QKRLEEEEDL
790	800	810	820	830	840
NVLTFEDLLC	FAYQVAKGME	FLEFKSCVHR	DLAARNVLVT	HGKVVKICDF	GLARDIMSDS
850	860	870	880	890	900
NYVVRGNARL	PVKWMAPESL	FEGIYTIKSD	VWSYGILLWE	IFSLGVNPYP	GIPVDANFYK
910	920	930	940	950	960
LIQNGFKMDQ	PFYATEEIYI	IMQSCWAFDS	RKRPSFPNLT	SFLGCQLADA	EEAMYQNVDG
970	980	990
RVSECPHTYQ	NRRPFSREMD	LGLLSPQAQV	EDS