AiPD: Autoinhibited Protein Database

P04629

Gene name	NTRK1
Protein name	High affinity nerve growth factor receptor
Names	Neurotrophic tyrosine kinase receptor type 1, TRK1-transforming tyrosine kinase protein, Tropomyosin-related kinase A, Tyrosine kinase receptor, Tyrosine kinase receptor A, Trk-A, gp140trk, p140-TrkA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4914
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

NTRK1 is a high-affinity nerve growth factor receptor and its ligand is nerve growth factor (NGF), which is involved in the survival, differentiation, development, and maturation of the central and peripheral nervous systems, particularly the sensory and sympathetic neurons. Studies have shown that deletion of the second Ig-like domain of NTRK1 results in spontaneous activation, so the second Ig-like domain is an autoinhibitory domain required to prevent spontaneous activation by receptor dimerization.

Autoinhibitory domains (AIDs)

Target domain	510-781 (Protein kinase domain)
Relief mechanism	Ligand binding
Assay	Deletion assay, Mutagenesis experiment

AID

281-383 (Ig2 domain)

Target domain

510-781 (Protein kinase domain)

Relief mechanism

Ligand binding (Nerve growth factor (NGF) binding)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

667-692 (Activation loop from InterPro)

Target domain	510-781 (Protein kinase domain)
Relief mechanism
Assay

References

Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16

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

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

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

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

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

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

63 structures for P04629

Entry ID	Method	Resolution	Chain	Position	Source
1HE7	X-ray	200 A	A	285-413	PDB
1SHC	NMR	-	B	489-500	PDB
1WWA	X-ray	250 A	X/Y	278-386	PDB
1WWW	X-ray	220 A	X/Y	282-382	PDB
2IFG	X-ray	340 A	A/B	36-382	PDB
2N90	NMR	-	A/B	410-447	PDB
4AOJ	X-ray	275 A	A/B/C	473-796	PDB
4CRP	NMR	-	A	282-383	PDB
4F0I	X-ray	230 A	A/B	498-796	PDB
4GT5	X-ray	240 A	A	498-796	PDB
4PMM	X-ray	200 A	A	501-787	PDB
4PMP	X-ray	180 A	A	501-787	PDB
4PMS	X-ray	280 A	A	501-787	PDB
4PMT	X-ray	210 A	A	501-787	PDB
4YNE	X-ray	202 A	A	502-796	PDB
4YPS	X-ray	210 A	A	502-796	PDB
5H3Q	X-ray	210 A	A	473-796	PDB
5I8A	X-ray	233 A	A	498-787	PDB
5JFS	X-ray	207 A	A	502-796	PDB
5JFV	X-ray	159 A	A	502-796	PDB
5JFW	X-ray	152 A	A	502-796	PDB
5JFX	X-ray	163 A	A	502-796	PDB
5KMI	X-ray	187 A	A	474-796	PDB
5KMJ	X-ray	204 A	A	474-796	PDB
5KMK	X-ray	224 A	A	474-796	PDB
5KML	X-ray	201 A	A	474-796	PDB
5KMM	X-ray	212 A	A	474-796	PDB
5KMN	X-ray	214 A	A	474-796	PDB
5KMO	X-ray	267 A	A	474-796	PDB
5KVT	X-ray	245 A	A	501-787	PDB
5WR7	X-ray	276 A	A	489-792	PDB
6D1Y	X-ray	193 A	A	479-796	PDB
6D1Z	X-ray	187 A	A	479-796	PDB
6D20	X-ray	194 A	A	479-796	PDB
6D22	X-ray	246 A	A	502-796	PDB
6DKB	X-ray	268 A	A	479-796	PDB
6DKG	X-ray	253 A	A	479-796	PDB
6DKI	X-ray	211 A	A	479-796	PDB
6DKW	X-ray	291 A	A/B	502-796	PDB
6IQN	X-ray	254 A	A/B	502-796	PDB
6J5L	X-ray	230 A	A	502-796	PDB
6NPT	X-ray	219 A	A	491-795	PDB
6NSP	X-ray	231 A	A	500-796	PDB
6NSS	X-ray	197 A	A	485-795	PDB
6PL1	X-ray	203 A	A	485-795	PDB
6PL2	X-ray	259 A	A	485-795	PDB
6PL3	X-ray	300 A	A	485-795	PDB
6PL4	X-ray	206 A	A	485-795	PDB
6PMA	X-ray	253 A	A	485-795	PDB
6PMB	X-ray	281 A	A	485-795	PDB
6PMC	X-ray	219 A	A	485-795	PDB
6PME	X-ray	300 A	A/B/C	485-795	PDB
7N3T	X-ray	184 A	A/B	36-382	PDB
7VKM	X-ray	255 A	A	502-796	PDB
7VKN	X-ray	270 A	A	502-796	PDB
7VKO	X-ray	290 A	A	502-796	PDB
7XAF	X-ray	300 A	A	498-796	PDB
7XBI	X-ray	216 A	A	485-795	PDB
8J5W	X-ray	228 A	A	484-796	PDB
8J5X	X-ray	209 A	A	498-796	PDB
8J61	X-ray	305 A	A	498-796	PDB
8J63	X-ray	300 A	A	498-796	PDB
AF-P04629-F1	Predicted				AlphaFoldDB

762 variants for P04629

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1655612629 RCV001197778	1	M>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
rs1655612729 RCV001279993	3	R>G	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000299635 VAR_068480 RCV000220958 CA1168813 RCV000755590 rs201472270	6	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA342988 RCV000031917 rs80356673 RCV000030667	9	Q>*	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA31100980 RCV001209950 rs994643260	11	G>A	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs748402400 CA1168816 RCV000525243	22	L>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000822952 CA342929378 rs1350547406	30	S>P	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000631335 CA342929761 rs1553260399	47	G>A	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000356782 CA1168828 rs200815412	53	D>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1168832 RCV000695151 rs766307207	62	L>P	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779430325 RCV000701815 CA342930170	68	L>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs398122810 RCV000022807	70	E>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
rs1655825221 RCV001203646	77	Q>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV001069841 rs1655824699	77	Q>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
rs139140006 CA1168864 RCV000697712	79	L>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1168865 RCV000631333 VAR_041461 rs55891455	80	Q>R	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1168866 rs543320028 COSM377364 RCV000631323	85	R>C	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs79678945 RCV001279995 CA1168869	85	R>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000789505 VAR_009623 rs543320028 RCV000986439 CA1168867 RCV000013098 RCV001585661	85	R>S	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001239468 rs774266965 CA1168870	86	D>Y	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2274496 CA1168872 RCV001101573	89	G>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA1168904 RCV001532557 RCV000559579 rs201509045	99	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1168907 rs374170641 RCV001219275	102	G>D	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA1168910 RCV001726213 COSM3689057 RCV000538023 rs578095133	104	R>H	Hereditary insensitivity to pain with anhidrosis large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs763164402 RCV000811617 CA1168912	106	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000700542 rs540521894 CA1168913 VAR_041462 COSM20674	107	A>V	lung ovary Hereditary insensitivity to pain with anhidrosis large_intestine an ovarian serous carcinoma sample; somatic mutation [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202161010 CA1168916 RCV000708806	114	T>S	Familial medullary thyroid carcinoma [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs757031354 RCV000708807 CA1168921	119	R>C	Familial medullary thyroid carcinoma [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778566154 CA1168922 COSM48608 RCV000631325	119	R>H	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000558924 rs922936206 CA31106528	126	A>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000708808 rs1306924167 CA342933323	141	Q>P	Familial medullary thyroid carcinoma [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs370483210 CA342933335 RCV000691155	142	E>*	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368564443 RCV001061901 CA31108140	151	H>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000235585 RCV000509462 rs141021604 CA1168991	157	R>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1647277529 RCV001059110	160	Q>*	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000431011 rs150271893 CA1168994 RCV000547738	161	R>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1571689630 CA342933783 RCV000789509	166	G>*	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs367836863 CA1169003 RCV000631353	169	G>R	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000596082 RCV000383811 rs201503610 RCV000708809 CA1169004	170	V>A	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1647285893 RCV001279997	174	K>E	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169019 RCV000291812 rs138608619 RCV000708810	190	S>R	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201185829 RCV000631349 CA1169049	192	G>A	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000796733 RCV000708811 rs552776147 CA1169050	195	T>M	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1553261428 RCV000536192 CA342934248	202	N>D	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA342934254 RCV000795240 rs1475036463	202	N>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1228967598 RCV001246425 CA342934258	203	A>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs148324672 CA1169055 RCV000861525	204	S>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745366033 CA1169058 RCV001097898	210	D>N	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA342934335 rs745366033 RCV000698583	210	D>Y	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001828497 rs1064793219 RCV000484442 CA16617006	211	V>E	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000382485 rs201192875 CA1169060	211	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747711259 RCV000631337 COSM1334980 VAR_009625 CA1169061	213	L>P	CIPA; aberrantly processed; shows diminished autophosphorylation in neuronal cells Hereditary insensitivity to pain with anhidrosis large_intestine [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000285911 CA1169063 RCV000489659 rs200132482	214	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000631334 CA1169062 rs372041586	214	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM4140875 rs540751200 CA1169066 RCV000700548	220	R>Q	kidney Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000343152 CA1169065 rs202030811	220	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000686886 rs369478563 CA31108981	221	G>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000696438 rs1221240822 CA342934818	228	I>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs55909005 RCV000394770 CA203254 VAR_041463 RCV000179356 RCV000224131	237	T>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1571693477 RCV000790260	242	G>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV001333636 rs1647563990	262	N>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169093 rs201509717 RCV001279998	263	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200305545 CA1169102 RCV001243110	273	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000554710 CA1169101 rs151334385	273	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA31113433 rs547972574 RCV000708812 RCV001279999 RCV001553054	281	N>S	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs774654606 CA1169110 RCV000693690	282	V>I	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1647699293 RCV001041765	289	Q>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000708813 rs137979116 RCV000284934 RCV000236758 CA1169134	289	Q>K	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764645590 RCV000631326 CA1169135	292	T>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs567093941 RCV000802414 CA1169137 RCV001662832	293	A>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000631330 rs1300360657 CA342935750	309	P>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1169147 rs137994522 RCV000237064 RCV000708814	314	R>C	Familial medullary thyroid carcinoma [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000631321 CA1169149 rs368769883	314	R>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1647708522 RCV001280000	319	G>D	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169165 rs758490619 RCV000819540	335	P>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001280001 rs139875058 CA1169171	341	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1571696060 RCV000804439	344	G>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169174 RCV001045495 COSM1217989 rs561243137	347	R>C	Hereditary insensitivity to pain with anhidrosis large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA342936056 rs561243137 RCV000631327	347	R>G	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs797045060 RCV000191114 CA276148	347	R>P	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001217062 rs201035170 CA1169177	354	V>I	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000789504 RCV000013104 VAR_068481 CA256294 rs121964869	359	Y>C	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease CIPA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs371498291 CA1169179 RCV001056147	360	T>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001280002 CA31115496 rs754611476 COSM676354	372	A>S	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA1169191 rs754611476 RCV000687922	372	A>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000708815 CA342936221 rs1347421266 RCV000986441	374	I>V	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs770611182 COSM48611 RCV000814527 CA1169192	375	M>I	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs140644885 CA1169194 RCV001320237	380	D>G	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1008878777 RCV000789686 CA31115566	388	E>K	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000555707 rs199646180 RCV000708816 CA1169221	396	S>L	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1169224 rs752761451 RCV000877121	397	P>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1169223 RCV000906283 rs767630555 RCV001439919	397	P>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001406009 rs764543935 RCV000929495 CA1169226	398	V>A	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs750799657 COSM1498812 CA1169248 RCV000792399	407	P>L	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000818291 CA1169269 rs765681685	419	S>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs771342578 RCV000689778 CA1169274	434	T>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000701106 rs1558105252	439	L>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000432013 rs56320207 CA1169280 VAR_041466 RCV000355086	444	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_041467 RCV000559015 rs34900547 RCV001755797 COSM3976244 CA1169283	452	R>C	lung Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000804631 rs34900547 CA1169284	452	R>G	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1169313 rs202108805 RCV001050807	453	P>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000708817 RCV001280005 rs761247634 CA1169316	461	G>R	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA342937298 RCV000686944 rs765177801	464	M>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs762942184 RCV000667282	477	S>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV001101682 rs1647855568	483	G>D	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
rs760222071 CA1169331 RCV000708818	488	G>D	Familial medullary thyroid carcinoma [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs144901788 RCV000486476 CA1169334 RCV000631332 VAR_068482	492	E>K	Hereditary insensitivity to pain with anhidrosis CIPA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs750349933 RCV001071155	494	P>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000533247 RCV000764985 CA1169335 rs764737760	494	P>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1558106092 RCV000689999 CA342937828	506	K>R	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM414421 rs200575096 RCV000631338 CA1169372	508	R>W	Hereditary insensitivity to pain with anhidrosis urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000708819 CA31118150 rs1035934237 RCV001280007	509	D>H	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000631331 rs1035934237 CA342937846	509	D>N	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_077472 rs606231467 CA272998	517	G>E	CIPA; following transfection in neuroblastoma cells and NGF treatment, small decrease in the percentage of cells differentiated into neuronal phenotype, but in differentiated cells, the average neurite length is comparable to wild-type; no effect on N-glycosylation, subcellular location, nor on basal and NGF-induced autophosphorylation; loss of NGF-stimulated calcium flux [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
rs1571699222 RCV000789624	518	E>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000789506 CA342937972 rs1571699241	519	G>R	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000789606 CA342938009 rs1571699266 VAR_009626	522	G>R	CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells Charcot-Marie-Tooth disease [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA1169427 RCV001101683 rs763247367	549	A>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000020468 rs80356675	554	R>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000703050 rs1363364803	554	R>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169434 rs764417252 RCV000708820 RCV001276831 RCV000221544	554	R>Q	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA342938507 rs1571699773 RCV000789664	564	L>F	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001772315 RCV001096256 CA1169444 rs755016431	573	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA31118816 rs368806213 RCV000703649	574	R>C	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000013096 rs121964866 VAR_004103 CA256262	577	G>R	Hereditary insensitivity to pain with anhidrosis CIPA; loss of function; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1571699872 CA342938597 RCV000789625	578	V>G	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs764541952 RCV000704949 CA1169453	580	T>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001239127 CA1169454 rs777123174	580	T>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000631329 CA1169456 rs150579345	581	E>K	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001002592 RCV000992455 rs371344688 RCV000797003 CA1169459	583	R>C	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1571699945 RCV000789607 RCV001580545	585	L>missing	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
CA256300 VAR_009627 rs121964870 RCV000013105	587	M>V	Hereditary insensitivity to pain with anhidrosis CIPA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001257443 rs1647927494	590	E>K	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169464 rs748133401 RCV000631318	593	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM124876 CA1169463 RCV001318356 rs781209572	593	R>W	upper_aerodigestive_tract Hereditary insensitivity to pain with anhidrosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs772229945 RCV000695386 CA1169468	599	R>C	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000631322 CA1169469 rs775718859	599	R>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000366642 RCV000591215 rs188270548 CA1169498 RCV000708821	603	S>C	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000592514 rs6336 VAR_009628 RCV000013100 RCV000712453 RCV000030667 RCV000030674 CA256274	604	H>Y	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000699603 rs1558108020 CA342939441	609	K>R	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs6339 RCV000712454 VAR_009629 RCV000013101 RCV000031916 CA256281 RCV000030667 RCV000127263	613	G>V	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs80356676 RCV000479042 RCV000020469	621	P>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV001856239 RCV000789674 rs778746462 CA1169504	623	G>C	Hereditary insensitivity to pain with anhidrosis Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1571702751 RCV000789626	632	S>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
rs1648104540 RCV001065765	640	Y>C	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000815142 rs920692665 RCV002067399 CA342939785	642	A>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000685871 rs142870382 CA1169519	647	V>L	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000789672 rs786205449 CA342939871	649	R>L	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs786205449 RCV000171160 VAR_079405 CA235758	649	R>Q	CIPA [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs369353892 COSM71893 VAR_009630 CA31123437	649	R>W	CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells ovary liver [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ESP dbSNP gnomAD
CA1169521 rs764992664 VAR_009631	654	R>C	CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000706156 rs1433630727	664	V>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000691300 rs1558108205 CA342940038	672	S>N	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_009632 RCV000020470 CA341877 rs80356677	674	D>Y	CIPA; might impair the function of the enzyme without compromising autophosphorylation Hereditary insensitivity to pain with anhidrosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
rs775191394 RCV001098003	679	D>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000174855 RCV001797660 RCV000528062 rs754452975 CA240459	686	R>H	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001036150 rs1648159596	687	T>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA256288 RCV000013103 rs121964868 VAR_009633	695	P>L	Hereditary insensitivity to pain with anhidrosis CIPA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000631319 rs756614200	696	P>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
CA1169568 rs200022271 RCV000708822 RCV000764986	702	R>H	Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000631320 CA1169571 rs747855434	707	E>K	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1169575 VAR_009634 rs770727871	714	G>S	CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000691409 CA1169578 rs759190964	715	V>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1571704043 RCV000790291 CA342940581	721	F>S	Hereditary sensory and autonomic neuropathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1169583 RCV001030785 rs763122825	724	G>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000523624 rs145081333 CA1169606 RCV000764987 RCV000541988	741	T>M	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1169612 RCV000520846 rs778520978 RCV000552631	748	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001099784 rs1009726086 CA31126042	750	R>C	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001261392 rs141540032	757	Y>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA1169622 RCV000674105 rs759637817	761	R>W	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000790287 rs1570912410 CA342941607	763	C>W	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1169626 rs764581997 RCV000631324	766	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886045373 RCV000280018 CA10608362	767	E>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000789507 rs764816792 CA1169629	770	Q>*	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA342941665 rs1324983370 VAR_077480	771	R>C	CIPA; partially decreased N-glycosylation; reduced expression at the plasma membrane; reduced basal autophosphorylation and complete loss of NGF-induced autophosphorylation; loss of NGF-stimulated calcium flux [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV000789610 rs1570912482	777	V>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000703425 rs1558109727	779	A>missing	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinVar dbSNP
RCV000818553 CA1169635 rs374957692	779	A>T	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_009635 CA256268 RCV000013097 rs35669708	780	R>P	Hereditary insensitivity to pain with anhidrosis CIPA; loss of function [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35669708 RCV000224279 VAR_009636 CA1169637 RCV000236228 RCV000545651	780	R>Q	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342941742 RCV000790139 rs1570912515	782	Q>*	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs768876280 CA1169642 RCV000686942	788	P>S	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001057914 CA1169645 VAR_041469 rs55948542 RCV001000792	790	V>I	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1170361634 RCV000555950 CA342941806	793	D>Y	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA31126299 rs749041981 RCV000631336	795	L>V	Hereditary insensitivity to pain with anhidrosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs556840308 CA10606463 RCV000346219	4	G>S		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs1382469625 CA342928882	5	G>R		No	ClinGen TOPMed gnomAD
rs1157244084 CA342928920	7	R>C		No	ClinGen TOPMed
rs1286464365 CA342928926	7	R>H		No	ClinGen gnomAD
rs1286464365 CA342928930	7	R>L		No	ClinGen gnomAD
CA342928933 rs1286464365	7	R>P		No	ClinGen gnomAD
rs1221586997 CA342928943	8	G>E		No	ClinGen gnomAD
CA342928936 rs894958112	8	G>R		No	ClinGen gnomAD
rs894958112 CA31100971	8	G>W		No	ClinGen gnomAD
CA342928952 rs80356673	9	Q>K		No	ClinGen gnomAD
CA342929017 rs1210177714	12	W>*		No	ClinGen gnomAD
CA342929020 rs1210177714	12	W>C		No	ClinGen gnomAD
rs750297580 CA1168814	12	W>R		No	ClinGen ExAC gnomAD
rs1261080511 CA342929026	13	H>N		No	ClinGen gnomAD
CA342929051 rs1441623333	14	S>R		No	ClinGen gnomAD
rs1210816787 CA342929069	15	W>G		No	ClinGen gnomAD
rs1210816787 CA342929066	15	W>R		No	ClinGen gnomAD
CA342929095 rs1239139469	16	A>S		No	ClinGen gnomAD
RCV000173175 rs1007211 RCV000757575 VAR_049714 CA200337	18	G>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781613716 CA1168815	20	G>D		No	ClinGen ExAC TOPMed gnomAD
CA342929155 rs1209117147	20	G>S		No	ClinGen TOPMed
CA342929167 rs1402027172	21	S>C		No	ClinGen gnomAD
CA342929184 rs1269566553	21	S>R		No	ClinGen TOPMed
CA342929173 rs1415403729	21	S>T		No	ClinGen gnomAD
CA31101047 rs886337406	24	A>S		No	ClinGen TOPMed gnomAD
rs886337406 CA342929230	24	A>T		No	ClinGen TOPMed gnomAD
CA1168817 rs756222046	31	A>E		No	ClinGen ExAC gnomAD
CA342929440 rs756222046	31	A>V		No	ClinGen ExAC gnomAD
rs1343765351 CA342929444	32	G>D		No	ClinGen gnomAD
rs777913530 CA342929450	33	A>P		No	ClinGen ExAC TOPMed gnomAD
rs777913530 CA1168818	33	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777913530 CA342929455	33	A>T		No	ClinGen ExAC TOPMed gnomAD
CA342929468 rs1436042701	34	A>S		No	ClinGen gnomAD
CA342929482 rs1204319733	35	P>S		No	ClinGen TOPMed gnomAD
rs932253343 CA31101089	38	D>E		No	ClinGen TOPMed
rs1377294547 CA342929569	39	A>D		No	ClinGen TOPMed gnomAD
CA1168821 rs774550285	39	A>S		No	ClinGen ExAC TOPMed gnomAD
CA342929571 rs1377294547	39	A>V		No	ClinGen TOPMed gnomAD
rs1131691595 RCV000493283	41	C>missing		No	ClinVar dbSNP
CA31101103 rs995918945	42	P>S		No	ClinGen Ensembl
CA31101104 rs867675329	43	H>N		No	ClinGen Ensembl
rs1309163464 CA342929680	43	H>Q		No	ClinGen gnomAD
CA342929724 rs1411131888	45	S>C		No	ClinGen gnomAD
CA31101115 rs866270701	46	S>*		No	ClinGen Ensembl
CA31101122 rs866270701	46	S>L		No	ClinGen Ensembl
CA1168825 rs760328863	48	L>P		No	ClinGen ExAC gnomAD
CA1168826 rs768100152	49	R>G		No	ClinGen ExAC TOPMed gnomAD
CA31101134 rs915452479	51	T>A		No	ClinGen Ensembl
CA1168827 rs376870955	51	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337184592 CA342929837	52	R>G		No	ClinGen TOPMed gnomAD
rs1227657378 CA342929844	52	R>Q		No	ClinGen TOPMed gnomAD
CA342929841 rs1337184592	52	R>W		No	ClinGen TOPMed gnomAD
rs200815412 CA342929854	53	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1220379017 CA342929882	54	G>E		No	ClinGen TOPMed gnomAD
rs765257361 CA1168829	54	G>R		No	ClinGen ExAC gnomAD
CA342929908 rs1266709497	55	A>D		No	ClinGen TOPMed gnomAD
rs1323844846 CA342929961	57	D>G		No	ClinGen gnomAD
rs866750536 CA31101152	57	D>Y		No	ClinGen Ensembl
CA342929982 rs750159449	58	S>N		No	ClinGen ExAC TOPMed gnomAD
CA31101155 rs867517349	58	S>R		No	ClinGen Ensembl
rs750159449 CA1168830	58	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1201254893 CA342929992	59	L>F		No	ClinGen gnomAD
rs564537453 CA1168831	60	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA342930027 rs1384007823	60	H>Q		No	ClinGen gnomAD
CA342930016 rs564537453	60	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA1168833 rs752899898	63	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1168834 rs752899898	63	P>R		No	ClinGen ExAC TOPMed gnomAD
CA342930082 rs1295528046 COSM1127346	63	P>S	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1168836 rs753992251	64	G>R		No	ClinGen ExAC gnomAD
CA342930167 rs757683490	67	N>K		No	ClinGen ExAC gnomAD
CA342930169 rs779430325	68	L>M		No	ClinGen ExAC TOPMed gnomAD
CA342930185 rs1325105893	69	T>I		No	ClinGen TOPMed gnomAD
rs1325105893 CA342930182	69	T>N		No	ClinGen TOPMed gnomAD
CA342930190 rs1362493213	70	E>K		No	ClinGen gnomAD
CA1168860 rs758965412	72	Y>C		No	ClinGen ExAC gnomAD
CA342931441 rs563296138	73	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1168863 rs754562899	74	E>K		No	ClinGen ExAC TOPMed gnomAD
CA342931447 rs754562899	74	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA31104018 rs1010879309 COSM897406	77	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM897406 rs1010879309 CA342931555	77	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1558097782 CA342931533	77	Q>R		No	ClinGen Ensembl
rs1024522996 CA31104028	78	H>Y		No	ClinGen TOPMed gnomAD
CA31104036 rs55891455	80	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342931622 rs1571685156	81	H>Y		No	ClinGen Ensembl
CA1168868 rs79678945 RCV000236816	85	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1257963281 CA342931821	89	G>D		No	ClinGen TOPMed
rs974191190 CA342931830	90	L>M		No	ClinGen gnomAD
rs149646444 CA1168873	91	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368671371 CA31104090	94	R>K		No	ClinGen ESP TOPMed
rs1488206131 CA342932473	97	T>A		No	ClinGen TOPMed
CA1168903 rs753578016	98	I>V		No	ClinGen ExAC gnomAD
CA1168905 rs778582725	101	S>G		No	ClinGen ExAC
rs745808991 CA1168906	101	S>N		No	ClinGen ExAC gnomAD
rs374170641 CA342932568	102	G>A		No	ClinGen ESP ExAC gnomAD
CA342932569 rs374170641	102	G>V		No	ClinGen ESP ExAC gnomAD
rs746825886 CA1168909	104	R>C		No	ClinGen ExAC gnomAD
CA342932641 rs540521894	107	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141592864 CA1168915	109	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571685698 CA342932787	115	P>R		No	ClinGen Ensembl
rs764558977 CA1168919	116	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA31104749 rs943975141	116	R>W		No	ClinGen TOPMed gnomAD
rs757031354 CA342932856	119	R>S		No	ClinGen ExAC TOPMed gnomAD
CA31106492 rs763421613	121	N>D		No	ClinGen TOPMed
CA342933148 rs1228130947	123	S>C		No	ClinGen TOPMed
CA1168943 rs757803799	125	N>K		No	ClinGen ExAC TOPMed gnomAD
CA31106532 rs539589077	126	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1168944 rs539589077	126	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1168948 rs747976486	132	W>*		No	ClinGen ExAC TOPMed gnomAD
rs747976486 CA1168947	132	W>C		No	ClinGen ExAC TOPMed gnomAD
CA1168946 rs778056858	132	W>R		No	ClinGen ExAC TOPMed gnomAD
rs778963822 CA1168949	134	T>N		No	ClinGen ExAC gnomAD
CA31106566 rs778742976	135	V>A		No	ClinGen Ensembl
rs775699275 CA1168952	136	Q>H		No	ClinGen ExAC gnomAD
rs576386597 CA1168950	136	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs771989330 CA1168951	136	Q>R		No	ClinGen ExAC gnomAD
CA342933282 rs1272908877	138	L>F		No	ClinGen TOPMed gnomAD
CA1168953 rs370483210	142	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA342933364 rs1418260362	143	L>Q		No	ClinGen TOPMed
rs1373216040 CA342933549	144	V>G		No	ClinGen gnomAD
CA342933544 rs1189762538	144	V>I		No	ClinGen gnomAD
rs41267427 CA1168980	146	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461607671 CA342933576	147	G>E		No	ClinGen gnomAD
rs773828967 CA1168984	149	P>A		No	ClinGen ExAC gnomAD
rs144609655 CA1168985	149	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144609655 CA342933603	149	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs773828967 CA1168983	149	P>S		No	ClinGen ExAC gnomAD
rs752572152 CA1168986	150	L>V		No	ClinGen ExAC gnomAD
rs763790152 CA1168988	151	H>R		No	ClinGen ExAC gnomAD
CA1168990 rs141629165	157	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1168992 rs141021604	157	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141629165 CA342933662	157	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755045059 CA1168993	161	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1168995 rs748653984	162	W>R		No	ClinGen ExAC gnomAD
CA342933722 rs748653984	162	W>R		No	ClinGen ExAC gnomAD
CA31108198 rs199628251	164	E>G		No	ClinGen 1000Genomes gnomAD
CA1168998 rs777970025	165	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1168997 rs770401327	165	E>K		No	ClinGen ExAC gnomAD
rs749711737 CA1168999	167	L>R		No	ClinGen ExAC TOPMed gnomAD
CA1169001 rs773926774	168	G>V		No	ClinGen ExAC gnomAD
rs1558100405 CA342933822	170	V>L		No	ClinGen Ensembl
CA1169006 rs200655463	171	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1169005 rs200655463	171	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs267598082 CA31108285	172	E>D		No	ClinGen Ensembl
RCV001509067 rs267598081 CA31108280	172	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs199719847 CA31108291	174	K>N		No	ClinGen 1000Genomes gnomAD
rs1329530186 CA342933876	174	K>R		No	ClinGen TOPMed
CA10584138 rs879253889 RCV000236167	176	Q>*		No	ClinGen ClinVar dbSNP gnomAD
rs753737755 CA1169007	178	H>D		No	ClinGen ExAC gnomAD
CA1169009 rs761633256	179	G>A		No	ClinGen ExAC gnomAD
CA1169008 rs761633256	179	G>E		No	ClinGen ExAC gnomAD
rs1571689751 CA342933950	180	Q>*		No	ClinGen Ensembl
CA342933979 rs1472037388	182	P>L		No	ClinGen gnomAD
rs755312547 CA1169011	182	P>S		No	ClinGen ExAC gnomAD
CA1169013 rs563804525	183	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs778294059 CA1169015	186	M>I		No	ClinGen ExAC gnomAD
rs371409149 CA1169014	186	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs879253918 RCV000237001 CA10584139	187	P>L		No	ClinGen ClinVar dbSNP gnomAD
CA1169016 rs749764095	187	P>S		No	ClinGen ExAC gnomAD
CA1169017 rs531080009	188	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200167354 CA1169018	189	A>T		No	ClinGen ExAC gnomAD
rs1026300967 CA31108387	191	C>R		No	ClinGen TOPMed
rs1214670934 CA342934154	193	V>A		No	ClinGen gnomAD
CA342934164 rs1319598861	194	P>L		No	ClinGen gnomAD
rs867657948 CA342934158	194	P>S		No	ClinGen gnomAD
CA31108794 rs867657948	194	P>T		No	ClinGen gnomAD
CA1169052 rs753902046	197	K>R		No	ClinGen ExAC TOPMed gnomAD
rs753902046 CA342934195	197	K>T		No	ClinGen ExAC TOPMed gnomAD
rs757737292 CA1169053	198	V>I		No	ClinGen ExAC gnomAD
rs866692522 CA342934224	199	Q>H		No	ClinGen gnomAD
CA31108870 rs866692522	199	Q>H		No	ClinGen gnomAD
rs866229146 CA31108848	199	Q>R		No	ClinGen Ensembl
rs1188397412 CA342934228	200	V>L		No	ClinGen gnomAD
rs146201511 CA1169054	201	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146201511 CA342934244	201	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219432341 CA342934240	201	P>S		No	ClinGen TOPMed
CA342934278 rs1455987896	205	V>M		No	ClinGen gnomAD
rs374361068 CA31108900	206	D>N		No	ClinGen ESP TOPMed gnomAD
CA1169057 rs780300091	206	D>V		No	ClinGen ExAC gnomAD
rs1038009599 CA31108925	207	V>A		No	ClinGen Ensembl
CA342934315 rs1290171656	208	G>E		No	ClinGen TOPMed gnomAD
rs1413555180 CA342934329	209	D>G		No	ClinGen gnomAD
rs1376334182 CA342934325	209	D>N		No	ClinGen TOPMed gnomAD
rs1376334182 CA342934323	209	D>Y		No	ClinGen TOPMed gnomAD
rs1471711796 CA342934414	216	Q>R		No	ClinGen gnomAD
rs749242957 CA1169064	217	V>A		No	ClinGen ExAC gnomAD
CA342934421 rs1409151354	217	V>M		No	ClinGen gnomAD
CA342934444 rs1403016717	219	G>R		No	ClinGen gnomAD
CA31108979 rs369478563	221	G>D		No	ClinGen ESP TOPMed gnomAD
CA31108983 rs999621346	222	L>V		No	ClinGen TOPMed gnomAD
rs922633037 CA31108989	223	E>G		No	ClinGen Ensembl
rs1357016517 CA342934477	223	E>K		No	ClinGen gnomAD
CA342934493 rs1344184257	224	Q>*		No	ClinGen TOPMed
CA342934524 rs1373781508	226	G>D		No	ClinGen gnomAD
rs760918699 CA1169067	226	G>S		No	ClinGen ExAC TOPMed gnomAD
CA342934835 rs1347000474	229	L>F		No	ClinGen gnomAD
rs1319694817 CA342934844	230	T>A		No	ClinGen gnomAD
CA342934865 rs1211726922	231	E>D		No	ClinGen TOPMed gnomAD
CA342934867 rs1211726922	231	E>D		No	ClinGen TOPMed gnomAD
rs1411172410 CA342934876	232	L>R		No	ClinGen TOPMed
rs1394944314 CA342934886	233	E>G		No	ClinGen TOPMed
CA342934917 rs1181350293	235	S>*		No	ClinGen gnomAD
rs1467031757 CA342934908	235	S>T		No	ClinGen TOPMed
CA31110479 rs565257470	236	A>T		No	ClinGen 1000Genomes
rs1379666240 CA342934930	237	T>A		No	ClinGen TOPMed
VAR_041464 CA31110490 rs56000394	238	V>G		No	ClinGen UniProt Ensembl dbSNP
rs1189790957 CA342934960	239	M>K		No	ClinGen gnomAD
rs1167013811 CA342935035	243	G>R		No	ClinGen gnomAD
CA1169085 rs745598076	243	G>V		No	ClinGen ExAC gnomAD
rs1265775208 CA342935059	247	L>P		No	ClinGen TOPMed
rs1265775208 CA342935060	247	L>R		No	ClinGen TOPMed
CA31113334 rs879699100	248	G>V		No	ClinGen Ensembl
CA1169088 rs762033185	250	T>P		No	ClinGen ExAC gnomAD
CA342935079 rs1260050597	251	L>P		No	ClinGen TOPMed
CA31113355 rs868061683	256	S>G		No	ClinGen Ensembl
CA342935127 rs1216823783	258	L>P		No	ClinGen TOPMed
CA342935134 rs1317408795	259	N>K		No	ClinGen TOPMed
CA31113356 rs35116695 VAR_041465	260	R>G		No	ClinGen UniProt Ensembl dbSNP
CA342935137 rs1269456924	260	R>K		No	ClinGen TOPMed
rs1324522638 CA342935146	261	K>R		No	ClinGen gnomAD
CA1169092 rs763488189	262	N>K		No	ClinGen ExAC gnomAD
rs201509717 CA342935157 RCV000494548	263	V>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1023556915 CA31113361 COSM116312	264	T>M	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA31113377 rs199800193	266	W>R		No	ClinGen Ensembl
rs145222195 CA1169096	270	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145222195 CA342935206	270	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1242358987 CA342935215	271	V>A		No	ClinGen gnomAD
CA1169098 rs777386428	271	V>L		No	ClinGen ExAC gnomAD
CA342935212 rs777386428	271	V>M		No	ClinGen ExAC gnomAD
CA1169104 rs138533001	275	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571693652 CA342935249	277	S>C		No	ClinGen Ensembl
CA1169106 rs368040165	279	Q>*		No	ClinGen ESP ExAC gnomAD
rs1319163286 CA342935268	280	V>G		No	ClinGen gnomAD
rs1381464469 CA342935265	280	V>I		No	ClinGen gnomAD
CA1169108 rs749280653	281	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1169107 rs547972574	281	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342935287 rs1235647607	284	F>L		No	ClinGen gnomAD
rs141483265 CA1169132	285	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309829121 CA342935436	286	A>T		No	ClinGen gnomAD
CA342935453 rs1369178389	287	S>N		No	ClinGen gnomAD
CA342935490 rs1302157222	290	L>M		No	ClinGen gnomAD
rs1252602135 CA342935544	294	V>A		No	ClinGen gnomAD
rs1252602135 CA342935545	294	V>G		No	ClinGen gnomAD
rs751530705 CA1169139	294	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751530705 CA342935537	294	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1571695798 CA342935588	297	H>P		No	ClinGen Ensembl
rs1466924719 CA342935586	297	H>Y		No	ClinGen gnomAD
CA342935596 rs1192775942	298	H>Y		No	ClinGen gnomAD
CA342935623 rs1411556656	299	W>C		No	ClinGen TOPMed
rs754703492 CA1169140	300	C>Y		No	ClinGen ExAC gnomAD
CA342935640 rs1455733025	301	I>V		No	ClinGen gnomAD
CA342935659 rs1181004723	302	P>L		No	ClinGen TOPMed
rs1181004723 CA342935658	302	P>R		No	ClinGen TOPMed
rs374365794 CA31115153	305	V>L		No	ClinGen Ensembl
CA1169143 rs757538639	307	G>R		No	ClinGen ExAC gnomAD
rs993479544 CA31115159	308	Q>*		No	ClinGen TOPMed
rs1300360657 CA342935746	309	P>Q		No	ClinGen gnomAD
rs1440909093 CA342935754	310	A>T		No	ClinGen gnomAD
CA342935775 rs1434897221	311	P>L		No	ClinGen gnomAD
CA31115167 rs954769021	312	S>C		No	ClinGen Ensembl
CA342935801 rs137994522	314	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368769883 CA1169148	314	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342935817 rs1227534393	315	W>*		No	ClinGen gnomAD
rs1259835419 CA342935825	316	L>F		No	ClinGen gnomAD
rs777116685 CA1169151	317	F>L		No	ClinGen ExAC TOPMed gnomAD
CA342935849 rs1295643709	318	N>D		No	ClinGen TOPMed
rs532851293 CA1169152	318	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM1259646 CA1169157 rs369367198	321	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs759527621 CA1169159	323	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1169161 COSM897410 rs752584213	324	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs755882352 CA1169162	325	T>N		No	ClinGen ExAC gnomAD
rs867386138 CA31115259	328	I>L		No	ClinGen Ensembl
rs779155543 CA1169163	330	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1169164 rs750677475	332	F>I		No	ClinGen ExAC TOPMed gnomAD
CA342935965 rs750677475	332	F>L		No	ClinGen ExAC TOPMed gnomAD
CA342935988 rs758490619	335	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs769324173 CA1169168	336	A>E		No	ClinGen ExAC gnomAD
CA1169167 rs747511326	336	A>P		No	ClinGen ExAC gnomAD
CA342935994 COSM1688780 rs1323232384	337	A>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA342936008 rs1213393905	339	E>K		No	ClinGen gnomAD
rs1255451124 CA342936026	341	V>A		No	ClinGen gnomAD
rs375878564 CA342936027	342	R>G		No	ClinGen ESP TOPMed gnomAD
CA1169172 rs770090356 COSM313388	342	R>Q	lung endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs375878564 CA31115290	342	R>W		No	ClinGen ESP TOPMed gnomAD
rs1044149705 CA31115323	344	G>R		No	ClinGen TOPMed gnomAD
CA342936050 rs1571696064	345	C>W		No	ClinGen Ensembl
CA31115326 rs150651692 RCV000712452	346	L>P		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs797045060 COSM3376767 CA31115332	347	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370518146 CA1169176	349	N>K		No	ClinGen ESP ExAC
rs528547348 CA1169175	349	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA342936079 rs1292841032	351	P>S		No	ClinGen TOPMed
rs1413648695 CA342936089	352	T>I		No	ClinGen gnomAD
rs1571696094 CA342936084	352	T>P		No	ClinGen Ensembl
CA342936135 rs1485352616	359	Y>N		No	ClinGen gnomAD
CA31115420 rs968322198	363	A>T		No	ClinGen TOPMed
rs1571696173 CA342936168	365	N>H		No	ClinGen Ensembl
CA342936169 rs1571696175	365	N>T		No	ClinGen Ensembl
rs755038246 CA1169186	366	P>R		No	ClinGen ExAC gnomAD
rs751741388 CA1169185	366	P>S		No	ClinGen ExAC gnomAD
rs781698345 CA1169187	367	F>S		No	ClinGen ExAC TOPMed gnomAD
rs867144076 CA31115461	368	G>D		No	ClinGen gnomAD
rs866261145 CA31115458	368	G>S		No	ClinGen gnomAD
rs1192553180 CA342936191	369	Q>E		No	ClinGen gnomAD
CA342936219 rs1347421266	374	I>F		No	ClinGen TOPMed gnomAD
CA31115503 rs1026286093	374	I>T		No	ClinGen TOPMed
CA342936229 COSM1559916 rs1558104298	375	M>T	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1235371618 CA342936226	375	M>V		No	ClinGen gnomAD
rs551687143 CA1169193	376	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA342936274 rs374700842	381	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs771486457 CA1169195	381	N>S		No	ClinGen ExAC gnomAD
rs569895276 CA342936276	382	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763940977 CA1169198	382	P>H		No	ClinGen ExAC gnomAD
CA1169197 rs569895276	382	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571696289 CA342936330	389	D>E		No	ClinGen Ensembl
CA1169201 rs537263008	392	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1017641678 CA31115575	393	V>F		No	ClinGen TOPMed gnomAD
CA1169219 rs765133005	394	S>P		No	ClinGen ExAC gnomAD
rs143438931 CA1169220	395	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA342936386 rs752761451	397	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1169245 rs754329045	402	S>N		No	ClinGen ExAC gnomAD
rs925496313 CA31116306	403	T>I		No	ClinGen TOPMed gnomAD
CA342936433 rs1403062294	403	T>S		No	ClinGen TOPMed gnomAD
CA31116313 rs935501793	404	S>P		No	ClinGen TOPMed
CA1169246 rs762370968	405	G>E		No	ClinGen ExAC gnomAD
CA31116347 rs199826686 COSM1259640	413	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs199826686 CA1169251	413	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1169252 rs751231044	414	T>I		No	ClinGen ExAC TOPMed gnomAD
CA342936525 rs1217169844	417	G>E		No	ClinGen gnomAD
CA342936836 rs1466994225	421	A>D		No	ClinGen gnomAD
rs1193183931 CA342936842	422	V>M		No	ClinGen gnomAD
CA342936860 rs1482966635	423	G>V		No	ClinGen TOPMed
rs1571697687 CA342936886	426	V>A		No	ClinGen Ensembl
rs986498490 CA31116778	426	V>F		No	ClinGen TOPMed gnomAD
CA342936881 rs986498490	426	V>I		No	ClinGen TOPMed gnomAD
CA342936902 rs142779943	428	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142779943 CA1169272	428	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1169273 rs751161872	429	C>R		No	ClinGen ExAC gnomAD
rs1173497481 CA342936929	430	L>P		No	ClinGen gnomAD
CA342936946 rs1392681907	432	L>V		No	ClinGen gnomAD
CA1169277 rs755709459	435	L>Q		No	ClinGen ExAC
rs17425856 CA31116858	437	L>F		No	ClinGen Ensembl
rs1367864129 CA342936992	437	L>R		No	ClinGen gnomAD
rs191958638 CA1169278	438	V>E		No	ClinGen 1000Genomes ExAC
rs147443162 CA1169279	440	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342937024 rs1226324315	442	C>Y		No	ClinGen TOPMed
rs1292790967 COSM1259642 CA342937042	444	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1219120956 CA342937068	446	N>K		No	ClinGen gnomAD
rs936268492 CA31116897	447	K>N		No	ClinGen gnomAD
CA1169281 rs778835395	448	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1398425162 CA342937119	451	N>D		No	ClinGen TOPMed gnomAD
rs1373141980 CA342937196	453	P>S		No	ClinGen gnomAD
CA1169315 rs753432413	455	V>M		No	ClinGen ExAC gnomAD
CA342937229 rs1221868169	457	A>S		No	ClinGen TOPMed gnomAD
CA342937230 rs1221868169	457	A>T		No	ClinGen TOPMed gnomAD
CA342937254 rs1489974991	459	E>G		No	ClinGen TOPMed
CA342937308 rs1278248260	464	M>I		No	ClinGen gnomAD
CA1169317 rs765177801	464	M>L		No	ClinGen ExAC gnomAD
rs765177801 CA342937300	464	M>V		No	ClinGen ExAC gnomAD
CA342937314 rs1291271254	465	S>T		No	ClinGen TOPMed
rs1206216652 CA342937358	469	M>T		No	ClinGen TOPMed
CA1169319 rs758133921	470	T>I		No	ClinGen ExAC gnomAD
rs1178401434 CA342937391	472	G>D		No	ClinGen gnomAD
rs1239229213 CA342937402	473	G>D		No	ClinGen gnomAD
CA342937409 rs752915558	474	S>N		No	ClinGen ExAC gnomAD
CA1169321 rs752915558	474	S>T		No	ClinGen ExAC gnomAD
rs756402401 CA1169322	475	S>C		No	ClinGen ExAC TOPMed gnomAD
CA31117687 rs574975242	475	S>P		No	ClinGen Ensembl
rs991568934 COSM529485 CA31117703	477	S>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1360824078 CA342937444	478	P>S		No	ClinGen gnomAD
rs1330400377 CA342937468	480	E>G		No	ClinGen gnomAD
CA1169327 rs139731614	480	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs879253890 RCV000235671 CA10584140	482	K>*		No	ClinGen ClinVar Ensembl dbSNP
CA342937490 rs1343481745	482	K>R		No	ClinGen TOPMed
CA342937495 rs1377418956	483	G>S		No	ClinGen gnomAD
rs772559075 CA1169330	486	L>F		No	ClinGen ExAC gnomAD
rs772559075 CA1169329	486	L>I		No	ClinGen ExAC gnomAD
rs141404661 COSM138241 CA1169332	489	H>Y	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1280902177 CA342937562	490	I>L		No	ClinGen gnomAD
CA342937564 rs1280902177	490	I>V		No	ClinGen gnomAD
rs750349933 CA1169336	494	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1169337 rs762948862	495	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1480633094 CA342937786	503	H>Y		No	ClinGen TOPMed
rs754084200 CA1169368	504	H>N		No	ClinGen ExAC gnomAD
COSM1295253 CA1169370 rs757590743	507	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750477154 CA1169371	507	R>H		No	ClinGen ExAC gnomAD
rs757590743 CA1169369	507	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1169374 rs374799164	508	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781478411 CA1169376 RCV000521036	510	I>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1169378 rs769486223	511	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1263339092 CA342937901	513	K>N		No	ClinGen gnomAD
rs772872947 CA1169379	514	W>R		No	ClinGen ExAC gnomAD
rs748761059 CA1169380	518	E>Q		No	ClinGen ExAC gnomAD
rs952797883 CA31118256	521	F>I		No	ClinGen Ensembl
rs1351290687 CA342938051	525	F>V		No	ClinGen TOPMed
rs774290556 CA1169382	529	C>G		No	ClinGen ExAC gnomAD
CA1169383 rs759451509	529	C>Y		No	ClinGen ExAC gnomAD
CA1169384 rs767309534	530	H>R		No	ClinGen ExAC gnomAD
rs1394762881 CA342938103 COSM1259644	530	H>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs568480622 CA31118283	532	L>F		No	ClinGen Ensembl
rs1395947150 CA342938161	535	E>G		No	ClinGen TOPMed
rs1239041280 CA342938222	539	M>L		No	ClinGen gnomAD
CA342938221 rs1239041280	539	M>V		No	ClinGen gnomAD
rs750677529 CA1169388	540	L>M		No	ClinGen ExAC gnomAD
CA342938249 rs1426132695	541	V>L		No	ClinGen gnomAD
CA342938265 rs1470193991	543	V>I		No	ClinGen TOPMed
CA342938359 rs1199030190	545	A>T		No	ClinGen gnomAD
rs1297390807 CA342938372	546	L>P		No	ClinGen TOPMed gnomAD
rs759471657 CA342938424	551	E>*		No	ClinGen ExAC TOPMed gnomAD
rs759471657 CA1169430	551	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759471657 CA1169431	551	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1169432 rs753191749	552	S>G		No	ClinGen ExAC gnomAD
CA342938444 rs764417252	554	R>L		No	ClinGen ExAC TOPMed gnomAD
CA31118730 rs764417252	554	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1169433 rs761240200	554	R>W		No	ClinGen ExAC gnomAD
CA31118740 rs562829243	555	Q>*		No	ClinGen Ensembl
rs6334 CA1169436	558	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6334 CA342938474	558	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342938472 rs1367129540	558	Q>R		No	ClinGen gnomAD
CA1169437 rs778358870	559	R>C		No	ClinGen ExAC gnomAD
CA1169438 rs201564883	559	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA31118766 rs41325044	560	E>K		No	ClinGen Ensembl
rs1406253599 CA342938486	561	A>T		No	ClinGen gnomAD
rs55892037 CA1169440	566	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1169439 VAR_041468 rs55892037	566	M>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA342938532 rs1219220800	568	Q>P		No	ClinGen gnomAD
rs746910337 CA1169442	569	H>R		No	ClinGen ExAC gnomAD
rs1205285520 CA342938563	572	I>T		No	ClinGen TOPMed
CA31118794 rs976601022	572	I>V		No	ClinGen TOPMed gnomAD
rs554180226 CA1169446	574	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA342938571 rs368806213	574	R>S		No	ClinGen ESP TOPMed gnomAD
CA1169447 rs769636137	575	F>L		No	ClinGen ExAC gnomAD
CA1169450 rs772137960	577	G>D		No	ClinGen ExAC gnomAD
CA1169449 rs121964866	577	G>S		No	ClinGen ExAC gnomAD
rs760764097 CA1169452	578	V>I		No	ClinGen ExAC gnomAD
rs138423540 CA1169458	581	E>D		No	ClinGen ESP ExAC gnomAD
rs765690926 CA1169457	581	E>G		No	ClinGen ExAC gnomAD
COSM131785 rs371344688 CA1169460	583	R>G	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA342938622 rs762542314	583	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1169461 rs762542314	583	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1395241395 CA342938671	591	Y>N		No	ClinGen gnomAD
CA1169465 rs748133401	593	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1238297758 CA342938692	594	H>Y		No	ClinGen gnomAD
CA1169467 rs746049437	595	G>R		No	ClinGen ExAC gnomAD
CA342938712 rs1471193807	597	L>V		No	ClinGen TOPMed
rs1340832515 CA342938721	598	N>S		No	ClinGen gnomAD
CA1169470 rs775718859	599	R>L		No	ClinGen ExAC TOPMed gnomAD
rs763758904 RCV000760429 CA1169474	602	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA31123233 rs41470746	605	G>A		No	ClinGen Ensembl
rs41470746 CA31123248	605	G>V		No	ClinGen Ensembl
rs1412359570 CA342939419	607	D>E		No	ClinGen TOPMed gnomAD
CA342939456 rs1438017408	611	L>V		No	ClinGen gnomAD
rs752303989 CA1169499	614	G>R		No	ClinGen ExAC gnomAD
rs149663928 CA342939499	615	E>K		No	ClinGen ESP TOPMed
CA31123286 rs149663928	615	E>Q		No	ClinGen ESP TOPMed
rs760131903 CA342939511	616	D>N		No	ClinGen ExAC gnomAD
rs760131903 CA1169500	616	D>Y		No	ClinGen ExAC gnomAD
CA342939526 rs1199981972	617	V>L		No	ClinGen gnomAD
rs764022882 CA1169501	619	P>A		No	ClinGen ExAC gnomAD
CA342939561 rs1571702688	622	L>P		No	ClinGen Ensembl
rs778746462 CA1169505	623	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1381516878 CA342939605	626	Q>*		No	ClinGen TOPMed
CA342939610 rs1180892588	626	Q>R		No	ClinGen TOPMed
CA342939648 rs1405634315	630	V>M		No	ClinGen TOPMed gnomAD
CA31123321 rs41489348	631	A>P		No	ClinGen ExAC gnomAD
rs41489348 CA1169508	631	A>S		No	ClinGen ExAC gnomAD
rs769770310 CA1169509	632	S>N		No	ClinGen ExAC gnomAD
rs1354236206 CA342939709	635	A>D		No	ClinGen gnomAD
CA342939707 rs749869863	635	A>S		No	ClinGen ExAC gnomAD
rs749869863 CA1169511	635	A>T		No	ClinGen ExAC gnomAD
rs771421920 CA1169512	636	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1558108141 CA342939740	638	M>I		No	ClinGen Ensembl
CA342939738 rs1270477069	638	M>T		No	ClinGen gnomAD
rs201002156 CA1169515	638	M>V		No	ClinGen ExAC gnomAD
rs775006393 CA1169516	639	V>L		No	ClinGen ExAC gnomAD
rs121964867 CA31123407	640	Y>H		No	ClinGen Ensembl
rs920692665 CA31123411	642	A>E		No	ClinGen TOPMed gnomAD
rs142870382 CA1169520	647	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA342939915 rs1319574534	653	T>I		No	ClinGen gnomAD
COSM529473 CA1169522 rs750168062	654	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1169523 rs750168062	654	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201211571 CA31123470	659	G>A		No	ClinGen Ensembl
rs1310506980 CA342939963	661	G>*		No	ClinGen TOPMed
CA342939972 rs1571702915	663	V>M		No	ClinGen Ensembl
rs1355186673 CA342939982	664	V>A		No	ClinGen gnomAD
rs1350885282 CA342940002	667	G>D		No	ClinGen gnomAD
CA342940034 rs1236732726	671	M>I		No	ClinGen gnomAD
rs376816422 CA342940028	671	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376816422 CA1169528	671	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185123581 CA342940031	671	M>R		No	ClinGen TOPMed gnomAD
CA342940030 rs1185123581 COSM1217991	671	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1558108205 CA342940039	672	S>T		No	ClinGen Ensembl
rs1419179271 CA342940086	678	T>I		No	ClinGen gnomAD
CA342940084 rs1419179271	678	T>N		No	ClinGen gnomAD
COSM897427 rs775191394 CA1169532	679	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342940091 rs775191394	679	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs768180688 CA1169534	682	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1384026471 CA342940133	682	R>L		No	ClinGen gnomAD
CA1169558 rs199905593	683	V>G		No	ClinGen ExAC gnomAD
CA342940210 rs1302050750	684	G>E		No	ClinGen gnomAD
CA342940202 rs1384565709	684	G>R		No	ClinGen gnomAD
CA1169559 rs41358549	686	R>C		No	ClinGen ExAC TOPMed gnomAD
CA31124380 rs41358549 COSM344850	686	R>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA31124372 rs41358549	686	R>S		No	ClinGen ExAC TOPMed gnomAD
CA31124415 rs866398752	687	T>I		No	ClinGen Ensembl
CA342940230 rs1571703857	687	T>P		No	ClinGen Ensembl
CA342940256 rs1571703866	690	P>S		No	ClinGen Ensembl
CA1169561 COSM272015 rs761967383	692	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs765477124 CA1169562 COSM1984670	692	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA31124448 rs866288494 COSM463175	695	P>S	kidney prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs973544235 CA31124465	696	P>L		No	ClinGen Ensembl
CA1169566 rs758876909	697	E>K		No	ClinGen ExAC gnomAD
CA1169567 rs374918502	702	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1169569 rs200022271	702	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200935209 CA1169570	705	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1169572 rs769291949	707	E>D		No	ClinGen ExAC gnomAD
CA342940418 rs747855434	707	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1169573 rs777306969	709	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1162344126 CA342940442	709	D>Y		No	ClinGen gnomAD
COSM3849291 rs370593942 CA1169574	710	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1393272944 COSM344852 CA342940465	711	W>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
RCV000712455 CA31124548 rs944740609	714	G>D		No	ClinGen ClinVar Ensembl dbSNP
rs1455058410 CA342940503	715	V>A		No	ClinGen TOPMed
rs759190964 CA1169577	715	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1169580 rs762163798	722	T>A		No	ClinGen ExAC gnomAD
rs1454059605 CA342940594	722	T>N		No	ClinGen TOPMed
rs557254719 CA1169585	731	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA342940675 rs1188636387	732	S>T		No	ClinGen gnomAD
rs145656213 CA342940689	733	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs755323716 CA1169587	734	T>M		No	ClinGen ExAC TOPMed gnomAD
COSM897433 CA1169589 rs752316792	735	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM897437 rs1480681042 CA342941308	738	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1480681042 CA342941310	738	D>Y		No	ClinGen gnomAD
rs777301558 CA342941338	739	C>*		No	ClinGen TOPMed
rs1178809694 CA342941326	739	C>R		No	ClinGen gnomAD
CA342941366 rs1176849590	742	Q>K		No	ClinGen TOPMed gnomAD
rs865845026 CA31125984	743	G>*		No	ClinGen Ensembl
CA342941391 rs1431206237	743	G>V		No	ClinGen gnomAD
rs763591781 CA1169609	744	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1169610 rs751281792	744	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1444452580 CA342941416	745	E>G		No	ClinGen gnomAD
rs756714717 CA1169611	747	E>V		No	ClinGen ExAC gnomAD
CA1169613 rs745776726	748	R>L		No	ClinGen ExAC gnomAD
CA31126027 COSM1600991 rs745776726	748	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758359269 CA1169614	750	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780170701 CA1169615	751	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342941516 rs1388614654	753	P>A		No	ClinGen TOPMed
CA342941520 rs1162776698	753	P>L		No	ClinGen TOPMed
rs866661448 CA342941546	756	V>F		No	ClinGen gnomAD
rs866661448 CA31126073	756	V>I		No	ClinGen gnomAD
rs62640939 RCV000712456 CA1169620	758	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs41436146 CA31126113	759	I>M		No	ClinGen gnomAD
rs201891311 CA1169623	761	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1169624 rs775984846	762	G>R		No	ClinGen ExAC gnomAD
CA342941590 rs775984846	762	G>S		No	ClinGen ExAC gnomAD
CA342941621 rs1420472466	764	W>C		No	ClinGen gnomAD
CA342941634 rs764581997	766	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1169625 rs760974854	766	R>W		No	ClinGen ExAC TOPMed gnomAD
CA31126179 rs753397054	767	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1169627 rs753397054	767	E>D		No	ClinGen ExAC TOPMed gnomAD
CA342941635 rs886045373	767	E>K		No	ClinGen Ensembl
rs756981419 CA1169628	768	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780724170 CA1169630	771	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1169631 rs757985119	772	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1570912470 CA342941700	775	K>R		No	ClinGen Ensembl
COSM1335001 rs1215993132 CA342941705	776	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747000254 CA1169633	776	D>V		No	ClinGen ExAC gnomAD
CA342941725 rs370504033	778	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA342941731 rs1268901114	779	A>G		No	ClinGen gnomAD
rs537948663 CA1169636	780	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342941743 rs1476492462	782	Q>P		No	ClinGen gnomAD
CA342941776 rs761207548	787	A>E		No	ClinGen ExAC TOPMed gnomAD
rs761207548 CA1169641	787	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777003922 CA1169643	788	P>R		No	ClinGen ExAC gnomAD
rs762112317 CA1169644	789	P>T		No	ClinGen ExAC
rs750111437 CA1169646	791	Y>H		No	ClinGen ExAC gnomAD
CA31126283 rs574726130	793	D>V		No	ClinGen 1000Genomes gnomAD
CA342941825 rs1381670284	796	G>A		No	ClinGen gnomAD
rs1348419096 CA342941833	797	G>Y		No	ClinGen gnomAD

1 associated diseases with P04629

Without disease ID

18 regional properties for P04629

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	478 - 767	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	479 - 754	IPR001245
domain	Immunoglobulin subtype 2	46 - 108	IPR003598-1
domain	Immunoglobulin subtype 2	169 - 237	IPR003598-2
domain	Immunoglobulin subtype 2	268 - 348	IPR003598-3
domain	Immunoglobulin subtype	40 - 119	IPR003599-1
domain	Immunoglobulin subtype	163 - 248	IPR003599-2
domain	Immunoglobulin subtype	262 - 359	IPR003599-3
domain	Immunoglobulin-like domain	25 - 119	IPR007110-1
domain	Immunoglobulin-like domain	158 - 246	IPR007110-2
domain	Immunoglobulin-like domain	255 - 357	IPR007110-3
active_site	Tyrosine-protein kinase, active site	619 - 631	IPR008266
domain	Immunoglobulin I-set	169 - 247	IPR013098-1
domain	Immunoglobulin I-set	262 - 358	IPR013098-2
domain	Immunoglobulin	43 - 115	IPR013151
binding_site	Protein kinase, ATP binding site	484 - 514	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	478 - 754	IPR020635
domain	Fibroblast growth factor receptor 1, catalytic domain	464 - 765	IPR028174

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Early endosome membrane ; Single-pass type I membrane protein Late endosome membrane ; Single-pass type I membrane protein Recycling endosome membrane ; Single-pass type I membrane protein	Rapidly internalized after NGF binding (PubMed:1281417) Internalized to endosomes upon binding of NGF or NTF3 and further transported to the cell body via a retrograde axonal transport Localized at cell membrane and early endosomes before nerve growth factor (NGF) stimulation Recruited to late endosomes after NGF stimulation Colocalized with RAPGEF2 at late endosomes
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF370	HIGH AFFINITY NERVE GROWTH FACTOR RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
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.
cell surface	The external part of the cell wall and/or plasma membrane.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane	The lipid bilayer surrounding a late endosome.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.

13 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
GPI-linked ephrin receptor activity	Combining with a GPI-anchored ephrin to initiate a change in cell activity.
identical protein binding	Binding to an identical protein or proteins.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
nerve growth factor binding	Binding to nerve growth factor (NGF).
nerve growth factor receptor activity	Combining with nerve growth factor (NGF), to prevent apoptosis in neurons and promote nerve growth, or to initiate a change in cell activity.
neurotrophin binding	Binding to a neurotrophin, any of a family of growth factors that prevent apoptosis in neurons and promote nerve growth.
neurotrophin p75 receptor binding	Binding to a neurotrophin p75 receptor.
neurotrophin receptor activity	Combining with a neurotrophin, any of a family of growth factors that prevent apoptosis in neurons and promote nerve growth, and transmitting the signal to initiate a change in cell activity.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

48 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
axonogenesis involved in innervation	The neurite development process that generates a long process of a neuron, as it invades a target tissue.
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.
behavioral response to formalin induced pain	Any process that results in a change in the behaviour of an organism as a result of a formalin pain stimulus.
cellular response to nerve growth factor stimulus	A 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 nerve growth factor stimulus.
cellular response to nicotine	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 nicotine stimulus.
circadian rhythm	Any biological process in an organism that recurs with a regularity of approximately 24 hours.
detection of mechanical stimulus involved in sensory perception of pain	The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal.
detection of temperature stimulus involved in sensory perception of pain	The series of events involved in the perception of pain in which a temperature stimulus is received and converted into a molecular signal.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
mechanoreceptor differentiation	The process in which a relatively unspecialized cell acquires specialized features of a mechanoreceptor, a cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system.
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 cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
nerve growth factor signaling pathway	The series of molecular signals initiated by nerve growth factor (NGF) binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
neurotrophin TRK receptor signaling pathway	The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
olfactory nerve development	The process whose specific outcome is the progression of the olfactory nerve over time, from its formation to the mature structure. The olfactory nerve is a collection of sensory nerve rootlets that extend down from the olfactory bulb to the olfactory mucosa of the upper parts of the nasal cavity. This nerve conducts odor information to the brainstem.
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.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
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 neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
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 programmed cell death	Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of Ras protein signal transduction	Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction.
positive regulation of synapse assembly	Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
positive regulation of synaptic transmission, glutamatergic	Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
programmed cell death involved in cell development	The activation of endogenous cellular processes that result in the death of a cell as part of its development.
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).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of protein kinase B signaling	Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
response to axon injury	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 axon injury stimulus.
response to electrical stimulus	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 electrical stimulus.
response to hydrostatic pressure	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 hydrostatic pressure stimulus. Hydrostatic pressure is the force acting on an object in a system where the fluid is at rest (as opposed to moving). The weight of the fluid above the object creates pressure on it.
response to nutrient levels	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 stimulus reflecting the presence, absence, or concentration of nutrients.
response to radiation	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 electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.
response to xenobiotic stimulus	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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
Sertoli cell development	The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate.
sympathetic nervous system development	The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.
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.

67 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q91044	NTRK3	NT-3 growth factor receptor	Gallus gallus (Chicken)	SS
Q91987	NTRK2	BDNF/NT-3 growth factors receptor	Gallus gallus (Chicken)	SS
Q8AXY6	MUSK	Muscle, skeletal receptor tyrosine protein kinase	Gallus gallus (Chicken)	SS
Q91009	NTRK1	High affinity nerve growth factor receptor	Gallus gallus (Chicken)	SS
Q5IS37	NTRK3	NT-3 growth factor receptor	Pan troglodytes (Chimpanzee)	SS
Q24488	Ror	Tyrosine-protein kinase transmembrane receptor Ror	Drosophila melanogaster (Fruit fly)	SS
Q9V6K3	Nrk	Tyrosine-protein kinase transmembrane receptor Ror2	Drosophila melanogaster (Fruit fly)	SS
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
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
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P15209	Ntrk2	BDNF/NT-3 growth factors receptor	Mus musculus (Mouse)	SS
Q61006	Musk	Muscle, skeletal receptor tyrosine-protein kinase	Mus musculus (Mouse)	SS
Q6VNS1	Ntrk3	NT-3 growth factor receptor	Mus musculus (Mouse)	SS
Q9Z138	Ror2	Tyrosine-protein kinase transmembrane receptor ROR2	Mus musculus (Mouse)	SS
Q9Z139	Ror1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Mus musculus (Mouse)	PR
Q3UFB7	Ntrk1	High affinity nerve growth factor receptor	Mus musculus (Mouse)	SS
P24786	NTRK3	NT-3 growth factor receptor	Sus scrofa (Pig)	SS
Q62838	Musk	Muscle, skeletal receptor tyrosine protein kinase	Rattus norvegicus (Rat)	SS
Q03351	Ntrk3	NT-3 growth factor receptor	Rattus norvegicus (Rat)	SS
Q63604	Ntrk2	BDNF/NT-3 growth factors receptor	Rattus norvegicus (Rat)	SS
P35739	Ntrk1	High affinity nerve growth factor receptor	Rattus norvegicus (Rat)	SS
G5EGK5	cam-1	Tyrosine-protein kinase receptor cam-1	Caenorhabditis elegans	SS
P43298	TMK1	Receptor protein kinase TMK1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8LPS5	SERK5	Somatic embryogenesis receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94C77	At4g34220	Receptor protein kinase-like protein At4g34220	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93ZS4	NIK3	Protein NSP-INTERACTING KINASE 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9XIC7	SERK2	Somatic embryogenesis receptor kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
C0LGX1	At5g65240	Probable LRR receptor-like serine/threonine-protein kinase At5g65240	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LFG1	At3g53590	Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At3g53590	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MLRGGRRGQL	GWHSWAAGPG	SLLAWLILAS	AGAAPCPDAC	CPHGSSGLRC	TRDGALDSLH
70	80	90	100	110	120
HLPGAENLTE	LYIENQQHLQ	HLELRDLRGL	GELRNLTIVK	SGLRFVAPDA	FHFTPRLSRL
130	140	150	160	170	180
NLSFNALESL	SWKTVQGLSL	QELVLSGNPL	HCSCALRWLQ	RWEEEGLGGV	PEQKLQCHGQ
190	200	210	220	230	240
GPLAHMPNAS	CGVPTLKVQV	PNASVDVGDD	VLLRCQVEGR	GLEQAGWILT	ELEQSATVMK
250	260	270	280	290	300
SGGLPSLGLT	LANVTSDLNR	KNVTCWAEND	VGRAEVSVQV	NVSFPASVQL	HTAVEMHHWC
310	320	330	340	350	360
IPFSVDGQPA	PSLRWLFNGS	VLNETSFIFT	EFLEPAANET	VRHGCLRLNQ	PTHVNNGNYT
370	380	390	400	410	420
LLAANPFGQA	SASIMAAFMD	NPFEFNPEDP	IPVSFSPVDT	NSTSGDPVEK	KDETPFGVSV
430	440	450	460	470	480
AVGLAVFACL	FLSTLLLVLN	KCGRRNKFGI	NRPAVLAPED	GLAMSLHFMT	LGGSSLSPTE
490	500	510	520	530	540
GKGSGLQGHI	IENPQYFSDA	CVHHIKRRDI	VLKWELGEGA	FGKVFLAECH	NLLPEQDKML
550	560	570	580	590	600
VAVKALKEAS	ESARQDFQRE	AELLTMLQHQ	HIVRFFGVCT	EGRPLLMVFE	YMRHGDLNRF
610	620	630	640	650	660
LRSHGPDAKL	LAGGEDVAPG	PLGLGQLLAV	ASQVAAGMVY	LAGLHFVHRD	LATRNCLVGQ
670	680	690	700	710	720
GLVVKIGDFG	MSRDIYSTDY	YRVGGRTMLP	IRWMPPESIL	YRKFTTESDV	WSFGVVLWEI
730	740	750	760	770	780
FTYGKQPWYQ	LSNTEAIDCI	TQGRELERPR	ACPPEVYAIM	RGCWQREPQQ	RHSIKDVHAR
790
LQALAQAPPV	YLDVLG