AiPD: Autoinhibited Protein Database

Q9NSV4

Gene name	DIAPH3 (DIAP3)
Protein name	Protein diaphanous homolog 3
Names	Diaphanous-related formin-3, DRF3, MDia2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81624
EC number
Protein Class

Descriptions

Formins are conserved actin nucleators responsible for the assembly of diverse actin structures. The autoinhibition mechanism involves the intramolecular interaction between N-terminal DID domain and C-terminal DAD domain. Autoinhibition is relieved by GTP-bound Rho proteins, which bind to the DID and an adjacent GTPase binding (G) element, and consequently displace the DAD. The DAD domain was identified by sequence similarity with mDia1 (O08808).

Autoinhibitory domains (AIDs)

1025-1082 (DAD domain) SS

Target domain	171-414 (DID domain)
Relief mechanism	Partner binding
Assay

AID

1025-1082 (DAD domain)

Target domain

171-414 (DID domain)

Relief mechanism

Partner binding (Rho GTPase binding to the GTPase-binding domain)

Assay

Accessory elements

No accessory elements

References

Lammers M et al. (2005) "The regulation of mDia1 by autoinhibition and its release by Rho*GTP", The EMBO journal, 24, 4176-87

Otomo T et al. (2010) "Crystal structure of the Formin mDia1 in autoinhibited conformation", PloS one, 5,

Otomo T et al. (2005) "Structural basis of Rho GTPase-mediated activation of the formin mDia1", Molecular cell, 18, 273-81

Kitzing TM et al. (2007) "Positive feedback between Dia1, LARG, and RhoA regulates cell morphology and invasion", Genes & development, 21, 1478-83

Mizuno H et al. (2018) "Helical rotation of the diaphanous-related formin mDia1 generates actin filaments resistant to cofilin", Proceedings of the National Academy of Sciences of the United States of America, 115, E5000-E5007

Seth A et al. (2006) "Autoinhibition regulates cellular localization and actin assembly activity of the diaphanous-related formins FRLalpha and mDia1", The Journal of cell biology, 174, 701-13

Lash LL et al. (2013) "Small-molecule intramimics of formin autoinhibition: a new strategy to target the cytoskeletal remodeling machinery in cancer cells", Cancer research, 73, 6793-803

Deacon SW et al. (2008) "Chemical inhibition through conformational stabilization of Rho GTPase effectors", Handbook of experimental pharmacology, , 431-60

Orshanskiy IA et al. (2015) "[Molecular Dynamics of N- and C-terminal Interactions during Autoinhibition and Activation of Formin mDial]", Biofizika, 60, 451-6

Lammers M et al. (2008) "Specificity of interactions between mDia isoforms and Rho proteins", The Journal of biological chemistry, 283, 35236-46

Copeland SJ et al. (2007) "The diaphanous inhibitory domain/diaphanous autoregulatory domain interaction is able to mediate heterodimerization between mDia1 and mDia2", The Journal of biological chemistry, 282, 30120-30

Alberts AS (2001) "Identification of a carboxyl-terminal diaphanous-related formin homology protein autoregulatory domain", The Journal of biological chemistry, 276, 2824-30

Maiti S et al. (2012) "Structure and activity of full-length formin mDia1", Cytoskeleton (Hoboken, N.J.), 69, 393-405

Gould CJ et al. (2011) "The formin DAD domain plays dual roles in autoinhibition and actin nucleation", Current biology : CB, 21, 384-90

Goode BL et al. (2007) "Mechanism and function of formins in the control of actin assembly", Annual review of biochemistry, 76, 593-627

Higgs HN (2005) "Formin proteins: a domain-based approach", Trends in biochemical sciences, 30, 342-53

Nezami A et al. (2010) "Crystal structure of a complex between amino and carboxy terminal fragments of mDia1: insights into autoinhibition of diaphanous-related formins", PloS one, 5,

Kovar DR (2006) "Molecular details of formin-mediated actin assembly", Current opinion in cell biology, 18, 11-7

Li F et al. (2005) "Dissecting requirements for auto-inhibition of actin nucleation by the formin, mDia1", The Journal of biological chemistry, 280, 6986-92

Copeland JW et al. (2004) "Homo-oligomerization is essential for F-actin assembly by the formin family FH2 domain", The Journal of biological chemistry, 279, 50250-6

Bai CX et al. (2008) "Activation of TRPP2 through mDia1-dependent voltage gating", The EMBO journal, 27, 1345-56

Li F et al. (2003) "The mouse Formin mDia1 is a potent actin nucleation factor regulated by autoinhibition", Current biology : CB, 13, 1335-40

Ramabhadran V et al. (2013) "Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction", The Journal of biological chemistry, 288, 26847-55

Autoinhibited structure

Activated structure

3 structures for Q9NSV4

Entry ID	Method	Resolution	Chain	Position	Source
5UWP	X-ray	205 A	D	1179-1193	PDB
6X2Y	X-ray	230 A	D	1183-1193	PDB
AF-Q9NSV4-F1	Predicted				AlphaFoldDB

946 variants for Q9NSV4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001270799 rs200771789 RCV001556122 CA6997031	119	E>D	Autosomal dominant auditory neuropathy 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6996696 RCV000626135 rs766502252	480	T>R	Autosomal dominant auditory neuropathy 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2050261564 RCV001264612	687	C>missing	Autosomal dominant auditory neuropathy 1 [ClinVar]	Yes	ClinVar dbSNP
rs749068924 RCV000490257	695	E>missing	Autosomal dominant auditory neuropathy 1 [ClinVar]	Yes	ClinVar dbSNP
rs1390011519 CA388339032	2	E>A		No	ClinGen gnomAD
CA388339027 rs748676812	3	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1426369159 CA388339025	3	R>Q		No	ClinGen gnomAD
rs1166952664 CA388339022	4	H>D		No	ClinGen gnomAD
CA6997129 rs779215905	4	H>P		No	ClinGen ExAC
CA388339014 rs1222033029	5	Q>E		No	ClinGen TOPMed
CA388339004 rs1475092096	6	P>Q		No	ClinGen gnomAD
CA388339003 rs1475092096	6	P>R		No	ClinGen gnomAD
rs1283407677 CA388338999	7	R>Q		No	ClinGen TOPMed
CA6997128 rs755307223	9	H>P		No	ClinGen ExAC gnomAD
CA6997127 rs750117161	10	H>R		No	ClinGen ExAC gnomAD
CA250983403 rs1002183897	11	P>A		No	ClinGen TOPMed gnomAD
rs1566841864 CA388338974	11	P>R		No	ClinGen Ensembl
RCV000991894 rs1002183897 CA388338977	11	P>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA388338965 rs1013708652	13	Q>*		No	ClinGen TOPMed gnomAD
CA250983400 rs1013708652	13	Q>E		No	ClinGen TOPMed gnomAD
CA250983399 rs887315168	14	G>R		No	ClinGen TOPMed
rs376399039 CA6997125	14	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468115740 CA388338944	16	A>V		No	ClinGen TOPMed
rs1271961532 CA388338941	17	A>S		No	ClinGen gnomAD
rs751152333 CA6997124	19	T>A		No	ClinGen ExAC gnomAD
CA6997123 rs567185163	21	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567185163 CA250983398	21	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs929087134 CA250983397	22	P>S		No	ClinGen TOPMed gnomAD
CA250983396 rs920335428	23	S>F		No	ClinGen TOPMed gnomAD
CA388338900 rs1219630512	24	S>*		No	ClinGen gnomAD
CA388338890 rs1283878525	26	S>P		No	ClinGen gnomAD
CA6997122 rs201623577	28	R>H		No	ClinGen ExAC TOPMed gnomAD
CA388338871 rs1348413065	29	G>D		No	ClinGen gnomAD
rs1307243731 CA388338864	30	C>F		No	ClinGen gnomAD
rs764945684 CA6997120	31	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA250983393 rs987425964	31	R>W		No	ClinGen TOPMed
rs759315896 CA6997119	32	E>K		No	ClinGen ExAC gnomAD
rs776871596 CA6997118	33	S>R		No	ClinGen ExAC TOPMed gnomAD
rs776871596 CA388338845	33	S>R		No	ClinGen ExAC TOPMed gnomAD
rs771185181 CA6997117	34	K>E		No	ClinGen ExAC gnomAD
CA6997116 rs760864398	34	K>T		No	ClinGen ExAC gnomAD
rs773338442 CA388338832	35	M>I		No	ClinGen ExAC gnomAD
rs773338442 CA6997115	35	M>I		No	ClinGen ExAC gnomAD
rs1287564625 CA388338826	36	P>L		No	ClinGen gnomAD
rs867928919 CA250983392	36	P>S		No	ClinGen gnomAD
CA6997114 rs772192013	37	R>C		No	ClinGen ExAC gnomAD
rs1438017353 CA388338823	37	R>H		No	ClinGen gnomAD
CA388338820 rs1594814615	38	R>G		No	ClinGen Ensembl
rs748610684 CA6997113	40	G>V		No	ClinGen ExAC gnomAD
CA250983391 rs548942782	41	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6997112 rs548942782	41	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA388338794 rs1300947912	42	Q>*		No	ClinGen TOPMed
CA6997111 rs768927314	42	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA388338785 rs1346402188	43	H>L		No	ClinGen TOPMed gnomAD
rs1346402188 CA388338786	43	H>P		No	ClinGen TOPMed gnomAD
CA250983390 rs915676408	43	H>Y		No	ClinGen TOPMed
CA388338778 rs1327074528	44	P>R		No	ClinGen gnomAD
rs1225252424 CA388338780	44	P>S		No	ClinGen gnomAD
CA388338782 rs1225252424	44	P>T		No	ClinGen gnomAD
rs1442716037 CA388338773	45	P>Q		No	ClinGen gnomAD
CA6997110 rs749626918	45	P>T		No	ClinGen ExAC TOPMed gnomAD
rs987952235 CA250983389	46	P>L		No	ClinGen TOPMed gnomAD
CA6997109 rs780532580	46	P>T		No	ClinGen ExAC gnomAD
CA250983388 rs554942934	47	P>L		No	ClinGen TOPMed
RCV000896198 CA6997106 rs200345616	49	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757857631 CA6997105	50	P>R		No	ClinGen ExAC gnomAD
CA250983387 rs1032397384	50	P>S		No	ClinGen TOPMed
CA388338743 rs1174545923	51	E>K		No	ClinGen TOPMed
rs202198529 CA6997104	52	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388338735 rs1177318835	52	E>K		No	ClinGen gnomAD
rs1332104078 CA388338726	53	P>S		No	ClinGen TOPMed
rs925574347 CA250983386	54	G>E		No	ClinGen Ensembl
rs1410454088 CA388338713	55	E>G		No	ClinGen gnomAD
rs1400996379 CA388338700	57	R>G		No	ClinGen TOPMed
rs1594814284 CA388338685	59	K>T		No	ClinGen Ensembl
CA6997080 rs373421558	67	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6997077 rs369972341	68	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6997078 rs750637072	68	T>P		No	ClinGen ExAC gnomAD
rs1034979928 CA250980204	71	M>T		No	ClinGen TOPMed gnomAD
rs777112519 CA6997051	74	K>*		No	ClinGen ExAC gnomAD
CA388338645 rs1232542972	74	K>I		No	ClinGen gnomAD
CA6997048 rs747842505	77	S>N		No	ClinGen ExAC gnomAD
CA6997049 rs747842505	77	S>T		No	ClinGen ExAC gnomAD
rs773938981 CA6997047	78	I>M		No	ClinGen ExAC gnomAD
CA388338621 rs1223419708	78	I>V		No	ClinGen gnomAD
rs768179657 CA6997046	79	R>G		No	ClinGen ExAC gnomAD
CA6997045 rs748761079	81	P>A		No	ClinGen ExAC gnomAD
CA388338595 rs1157336004	82	G>E		No	ClinGen TOPMed
CA388338596 rs1426986177	82	G>W		No	ClinGen TOPMed
rs1298424275 CA388338568	86	E>K		No	ClinGen TOPMed gnomAD
rs906293441 CA250978034	88	P>A		No	ClinGen TOPMed
rs1470224704 CA388338531	91	P>L		No	ClinGen TOPMed gnomAD
rs375581334 CA6997041	92	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249997153 CA388338509	95	T>A		No	ClinGen gnomAD
rs1178006695 CA388338505	95	T>I		No	ClinGen gnomAD
rs1481773227 CA388338502	96	A>S		No	ClinGen gnomAD
CA6997038 rs751818222	105	A>P		No	ClinGen ExAC TOPMed gnomAD
CA250978029 rs751818222	105	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6997037 rs778090110	106	P>S		No	ClinGen ExAC gnomAD
rs758581626 CA6997036	109	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1594696880 CA388338412	109	M>T		No	ClinGen Ensembl
CA388338408 rs1244005261	110	M>L		No	ClinGen TOPMed
rs562331931 CA6997035	110	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6997033 rs543686148	114	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA250978028 rs1012752656	115	K>E		No	ClinGen Ensembl
rs1033065783 CA250978026	121	E>V		No	ClinGen Ensembl
rs1452756369 CA388338287	127	E>G		No	ClinGen gnomAD
rs760901760 CA6997029	128	K>I		No	ClinGen ExAC gnomAD
CA388338262 rs1468860775	130	M>I		No	ClinGen TOPMed
rs200174324 CA6997028	130	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452705973 CA388338264	130	M>T		No	ClinGen gnomAD
rs200174324 CA6997027	130	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388337229 rs1594646843	132	D>V		No	ClinGen Ensembl
rs758742870 CA6997017	132	D>Y		No	ClinGen ExAC gnomAD
rs1594646828 CA388337225	133	M>V		No	ClinGen Ensembl
CA388337198 rs1422541252	136	N>S		No	ClinGen TOPMed gnomAD
rs780755805 CA250976157	139	K>*		No	ClinGen Ensembl
rs1363905934 CA388337161	141	A>S		No	ClinGen gnomAD
rs752964998 CA6997016	142	P>A		No	ClinGen ExAC gnomAD
rs754956464 CA6997014	144	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6997012 rs766758913	148	F>C		No	ClinGen ExAC gnomAD
rs761218105 CA6997011	148	F>L		No	ClinGen ExAC gnomAD
CA388337110 rs1188611525	149	S>G		No	ClinGen gnomAD
rs1410729153 CA388337094	151	K>*		No	ClinGen TOPMed
CA250976156 rs938311869	151	K>R		No	ClinGen TOPMed
CA388337055 rs1329673185	156	M>T		No	ClinGen TOPMed
CA388337045 rs1489963038	157	Q>R		No	ClinGen gnomAD
CA388337036 rs1594646610	158	Y>*		No	ClinGen Ensembl
CA250976155 rs894078447	158	Y>D		No	ClinGen Ensembl
CA250976154 rs193164225	159	I>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA388337032 rs1229704285	159	I>T		No	ClinGen TOPMed gnomAD
rs193164225 CA250976153	159	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1361235499 CA388337016	161	T>I		No	ClinGen gnomAD
CA388337009 rs1249077388	163	S>T		No	ClinGen gnomAD
rs752365897 CA6996987	166	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6996988 rs757557320	166	G>R		No	ClinGen ExAC gnomAD
CA6996986 rs534808786	167	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388336965 rs1180664917	168	L>V		No	ClinGen gnomAD
CA388336948 rs1438107442	170	R>I		No	ClinGen gnomAD
rs1438107442 CA388336950	170	R>K		No	ClinGen gnomAD
CA388336944 rs1239466605	171	S>G		No	ClinGen gnomAD
CA6996984 COSM138910 rs759193958	172	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1195078497 CA388336934	172	R>L		No	ClinGen TOPMed
CA388336936 COSM948222 rs1195078497	172	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1594483260 RCV001002787 CA388336932	173	Q>E		No	ClinGen ClinVar Ensembl dbSNP
CA388336925 rs1460801965	174	I>V		No	ClinGen gnomAD
rs769230544 CA6996982	175	S>L		No	ClinGen ExAC gnomAD
CA6996980 rs201847164	178	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1238596673 CA388336884	180	I>V		No	ClinGen gnomAD
CA388336873 rs1336620348	181	H>R		No	ClinGen gnomAD
rs905400955 CA250970684	185	M>I		No	ClinGen Ensembl
CA6996979 rs772016615	185	M>T		No	ClinGen ExAC gnomAD
CA6996978 rs747915322	186	G>E		No	ClinGen ExAC gnomAD
rs1405945344 CA388336841	186	G>R		No	ClinGen gnomAD
CA388336828 rs1383244130	188	A>S		No	ClinGen TOPMed gnomAD
CA388336830 rs1383244130	188	A>T		No	ClinGen TOPMed gnomAD
CA6996977 rs774168456	188	A>V		No	ClinGen ExAC TOPMed gnomAD
CA250970683 rs369191795	189	D>G		No	ClinGen ESP gnomAD
rs376891394 CA250970682	190	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376891394 CA6996975	190	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1045646025 CA250970681	192	L>I		No	ClinGen TOPMed gnomAD
CA250970680 rs946883487	195	C>S		No	ClinGen TOPMed
rs756116902 CA6996973	195	C>S		No	ClinGen ExAC gnomAD
rs946883487 CA388336786	195	C>Y		No	ClinGen TOPMed
CA388336777 COSM319881 rs1389067633	197	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA388336776 rs1389067633	197	E>Q		No	ClinGen TOPMed gnomAD
CA388336768 rs1441056051	198	S>P		No	ClinGen TOPMed
CA388336765 rs1304983155	198	S>Y		No	ClinGen TOPMed
CA388336763 rs1430988652	199	L>I		No	ClinGen Ensembl
CA6996971 rs781626494	200	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1283256298 CA388336756	200	R>Q		No	ClinGen TOPMed gnomAD
CA6996970 rs757647666	201	V>L		No	ClinGen ExAC gnomAD
rs1354620114 CA388336730	204	T>I		No	ClinGen gnomAD
rs867713294 CA250970678	205	S>N		No	ClinGen Ensembl
COSM1607174 CA6996969 rs751908858	206	N>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA388336714 rs1243787243	207	P>T		No	ClinGen gnomAD
CA388336676 rs1241989547	210	W>*		No	ClinGen TOPMed
rs762757015 CA6996939	210	W>*		No	ClinGen ExAC TOPMed gnomAD
rs775603587 CA6996938	211	V>M		No	ClinGen ExAC gnomAD
CA388336657 rs1566661757	213	S>I		No	ClinGen Ensembl
rs1223816403 CA388336653	214	F>L		No	ClinGen gnomAD
CA250967731 rs867928786	215	G>V		No	ClinGen gnomAD
rs770042088 CA6996937	216	H>N		No	ClinGen ExAC gnomAD
rs1369552515 CA388336638	216	H>R		No	ClinGen TOPMed gnomAD
rs372830432 CA6996936	217	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA250967730 rs1003288220	218	G>A		No	ClinGen TOPMed gnomAD
CA388336627 rs1224251694	218	G>R		No	ClinGen TOPMed
rs1353403266 CA388336580	225	I>V		No	ClinGen gnomAD
rs778294121 CA6996932	227	E>G		No	ClinGen ExAC gnomAD
rs201688909 CA6996930	229	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA388336543 rs977471413	230	I>M		No	ClinGen TOPMed gnomAD
rs779400428 CA6996929	230	I>V		No	ClinGen ExAC gnomAD
rs200839105 CA6996928	234	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200839105 CA6996927	234	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996916 rs760769606	235	Q>K		No	ClinGen ExAC gnomAD
CA6996915 rs80037301	237	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996914 rs772686288	238	V>I		No	ClinGen ExAC gnomAD
rs1203574069 CA388336465	240	K>R		No	ClinGen gnomAD
rs748592184 CA6996913	241	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6996912 rs774926822	242	N>H		No	ClinGen ExAC gnomAD
CA6996911 rs769079158	243	Q>R		No	ClinGen ExAC gnomAD
CA388336441 rs1566661225	244	H>D		No	ClinGen Ensembl
rs745525355 CA6996910	245	K>N		No	ClinGen ExAC gnomAD
rs780939384 CA6996909	247	I>L		No	ClinGen ExAC TOPMed gnomAD
rs780939384 CA388336420	247	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388336410 rs1223328234	248	Q>R		No	ClinGen gnomAD
rs867774111 CA250967723	252	A>T		No	ClinGen TOPMed
rs1594348061 CA388336374	254	M>V		No	ClinGen Ensembl
CA6996908 rs371644332	256	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996889 rs200249252	260	L>F		No	ClinGen ExAC gnomAD
CA6996887 rs777409523	261	E>G		No	ClinGen ExAC gnomAD
rs777409523 CA6996888	261	E>V		No	ClinGen ExAC gnomAD
rs1196354445 CA388335098	262	R>I		No	ClinGen TOPMed gnomAD
CA6996886 rs757781172	263	I>N		No	ClinGen ExAC
rs201731537 CA388335083	264	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201731537 CA6996885	264	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1489689678 CA388335088	264	M>V		No	ClinGen TOPMed gnomAD
CA388335078 rs1209844193	265	S>N		No	ClinGen gnomAD
rs1489183078 CA388335074	265	S>R		No	ClinGen TOPMed gnomAD
CA6996884 rs778781515	266	E>V		No	ClinGen ExAC gnomAD
rs1226599692 CA388335056	268	R>K		No	ClinGen gnomAD
rs1318573159 CA388335041	270	L>F		No	ClinGen gnomAD
rs1279836956 CA388335028	272	L>S		No	ClinGen gnomAD
rs868454120 CA250967146	274	A>T		No	ClinGen Ensembl
CA388335004 rs1285656936	276	A>T		No	ClinGen TOPMed
rs200982440 CA6996881	277	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750541040 CA6996879	278	D>E		No	ClinGen ExAC TOPMed gnomAD
rs756422711 CA6996880	278	D>H		No	ClinGen ExAC gnomAD
CA388334983 rs1465539849	279	P>L		No	ClinGen gnomAD
CA6996878 rs767644682	279	P>T		No	ClinGen ExAC gnomAD
rs965318005 CA250967145	280	R>G		No	ClinGen gnomAD
rs1256224473 CA388334980	280	R>T		No	ClinGen TOPMed
CA388334973 rs1475227260	281	H>L		No	ClinGen TOPMed
rs375459032 CA6996876	282	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996877 rs761939104	282	P>S		No	ClinGen ExAC gnomAD
rs1199116344 CA388334960	283	N>S		No	ClinGen gnomAD
CA6996875 rs764740847	286	T>R		No	ClinGen ExAC TOPMed gnomAD
rs775983162 CA6996873	288	V>A		No	ClinGen ExAC gnomAD
rs763534662 CA6996874	288	V>M		No	ClinGen ExAC gnomAD
CA6996871 rs760380418	294	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1411547910 CA388334861	298	V>L		No	ClinGen gnomAD
rs747695858 CA6996868	299	G>A		No	ClinGen ExAC gnomAD
CA388334854 rs747695858	299	G>E		No	ClinGen ExAC gnomAD
rs778370785 CA6996866	300	E>D		No	ClinGen ExAC gnomAD
rs761440248 CA6996849	303	I>M		No	ClinGen ExAC gnomAD
CA388334826 rs1304895616	303	I>N		No	ClinGen TOPMed gnomAD
CA388334825 rs1304895616	303	I>T		No	ClinGen TOPMed gnomAD
rs773916503 CA6996847	307	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388334769 rs1271898059	310	A>T		No	ClinGen TOPMed
CA6996846 rs768085712	313	S>T		No	ClinGen ExAC gnomAD
CA6996845 rs200055625	314	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161179296 CA388334726	317	E>K		No	ClinGen gnomAD
CA6996843 rs769666542	320	I>N		No	ClinGen ExAC
CA250966945 rs200296625	323	F>L		No	ClinGen TOPMed gnomAD
rs932221110 CA250966944	327	V>M		No	ClinGen Ensembl
CA6996836 rs757613294	329	G>S		No	ClinGen ExAC gnomAD
rs747231441 CA6996835	330	L>I		No	ClinGen ExAC gnomAD
rs1037832135 CA250966943	331	R>Q		No	ClinGen TOPMed gnomAD
rs751399426 CA6996834	331	R>W		No	ClinGen ExAC TOPMed gnomAD
CA250966942 rs377656179	332	H>N		No	ClinGen ESP TOPMed gnomAD
CA250966941 rs942172273	336	Q>K		No	ClinGen TOPMed gnomAD
CA6996808 rs766740435	341	C>S		No	ClinGen ExAC gnomAD
rs1172080090 CA388334536	343	Q>*		No	ClinGen gnomAD
CA250965112 rs977577195	347	A>T		No	ClinGen TOPMed
rs762648523 CA6996804	349	V>F		No	ClinGen ExAC gnomAD
CA388334471 rs1566626388	353	D>G		No	ClinGen Ensembl
rs1257978305 CA388334467	354	D>N		No	ClinGen gnomAD
CA388334450 rs1320429146	356	D>Y		No	ClinGen gnomAD
CA388334438 rs1299723026	357	F>L		No	ClinGen gnomAD
rs1191305860 CA388334433	358	R>T		No	ClinGen TOPMed
CA250965110 rs994508719	360	H>L		No	ClinGen Ensembl
rs1426677935 CA388334415	361	I>V		No	ClinGen TOPMed
CA250965109 rs35363428	362	R>K		No	ClinGen Ensembl
rs36084898 VAR_049097 RCV000601218 RCV000991891 CA6996801	363	N>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs898866984 CA250965108	363	N>Y		No	ClinGen Ensembl
CA388334381 rs1173068470	366	M>L		No	ClinGen TOPMed
CA6996800 rs754972603	366	M>T		No	ClinGen ExAC gnomAD
CA6996799 rs200549508	367	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996798 rs770872230	367	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200549508 CA388334373	367	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388334350 rs1175146511	370	L>F		No	ClinGen gnomAD
CA388334332 rs1414103887	373	I>V		No	ClinGen gnomAD
rs772240679 CA6996795	375	P>L		No	ClinGen ExAC TOPMed gnomAD
CA250965106 rs1046557485	375	P>S		No	ClinGen Ensembl
rs753857567 CA6996779	378	K>E		No	ClinGen ExAC gnomAD
CA6996778 rs766460656	378	K>I		No	ClinGen ExAC gnomAD
CA388334278 rs1442034566	379	C>Y		No	ClinGen gnomAD
CA250965083 rs1014558120	380	I>S		No	ClinGen Ensembl
rs1566625500 CA388334248	383	D>G		No	ClinGen Ensembl
rs760675302 CA6996777	383	D>N		No	ClinGen ExAC gnomAD
rs1212019928 CA388334244	384	G>S		No	ClinGen TOPMed
rs1181572042 CA388334239	384	G>V		No	ClinGen TOPMed gnomAD
CA388334237 rs1483791634	385	L>V		No	ClinGen gnomAD
rs368310391 CA250965082	386	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996776 rs368310391	386	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352582890 CA388334226	387	I>V		No	ClinGen TOPMed gnomAD
rs991185931 CA250965081	389	L>F		No	ClinGen TOPMed
CA388334185 rs1566625377	393	D>Y		No	ClinGen Ensembl
CA6996773 rs140006650	395	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA250965080 rs199772941	397	E>D		No	ClinGen ESP TOPMed gnomAD
rs1296157153 CA388334130	400	L>V		No	ClinGen gnomAD
CA6996771 rs749405642	401	F>V		No	ClinGen ExAC gnomAD
CA250965079 rs1012408540	402	E>A		No	ClinGen TOPMed gnomAD
CA250965078 rs1012408540	402	E>G		No	ClinGen TOPMed gnomAD
CA6996770 rs780081516	403	L>V		No	ClinGen ExAC gnomAD
rs1367176022 CA388334105	404	S>A		No	ClinGen TOPMed gnomAD
rs1367176022 CA388334104	404	S>T		No	ClinGen TOPMed gnomAD
rs1164675826 CA388334095	405	H>R		No	ClinGen TOPMed gnomAD
rs746371932 CA6996768	406	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374035547 CA6996767	406	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs567413362 CA250965077	408	E>G		No	ClinGen 1000Genomes
CA6996765 rs752317592	408	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1245035800 CA388334064	410	I>T		No	ClinGen TOPMed
rs778588316 CA6996764	410	I>V		No	ClinGen ExAC TOPMed gnomAD
rs768967860 CA6996754	417	A>E		No	ClinGen ExAC gnomAD
CA388333997 rs1487277326	418	Y>C		No	ClinGen TOPMed
CA388333989 rs1566624042	419	D>G		No	ClinGen Ensembl
rs1431132505 CA388333985	420	V>I		No	ClinGen gnomAD
COSM226738 CA6996753 rs763152099	422	N>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs374336128 CA6996752	423	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1489399104 CA388333932	427	T>A		No	ClinGen gnomAD
rs746390263 CA6996750 COSM1580769	431	T>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746390263 CA388333904	431	T>S		No	ClinGen ExAC TOPMed gnomAD
COSM948215 CA388333893 rs1318320950	433	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6996749 rs202183874	433	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1229846991 CA388333886	434	E>*		No	ClinGen TOPMed gnomAD
CA388333887 rs1229846991	434	E>K		No	ClinGen TOPMed gnomAD
CA388333875 rs1418410401	435	G>V		No	ClinGen TOPMed
rs1346141034 CA388333873	436	Y>H		No	ClinGen TOPMed
CA6996745 rs367707877	439	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996746 rs777978305	439	S>T		No	ClinGen ExAC TOPMed gnomAD
rs748882816 CA6996744	440	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388333839 rs1566623806	441	L>F		No	ClinGen Ensembl
rs1594250599 CA388333835	442	Q>K		No	ClinGen Ensembl
rs1246003955 CA388333810	445	L>S		No	ClinGen TOPMed
rs750355652 CA6996740	448	R>*		No	ClinGen ExAC TOPMed gnomAD
rs145827856 CA6996738	448	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6996739 COSM193039 rs145827856	448	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6996737 rs751425077	449	N>S		No	ClinGen ExAC gnomAD
rs1455210487 CA388333784	450	D>H		No	ClinGen gnomAD
CA388333774 rs1204841723	451	Y>C		No	ClinGen gnomAD
rs763170576 CA6996736	453	I>L		No	ClinGen ExAC gnomAD
rs763170576 COSM3671296 CA6996735	453	I>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6996715 rs776831734	456	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs776831734 CA6996714	456	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1566612345 CA388333282	457	Y>C		No	ClinGen Ensembl
rs761257432 CA6996712	457	Y>H		No	ClinGen ExAC gnomAD
CA388333277 rs1443251358	458	F>L		No	ClinGen gnomAD
CA6996710 rs772595596	462	D>A		No	ClinGen ExAC
rs762306571 CA6996709	462	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6996708 rs774832755	463	E>D		No	ClinGen ExAC TOPMed gnomAD
CA388333241 rs1419808515	463	E>K		No	ClinGen gnomAD
rs1161365116 CA388333232	464	C>F		No	ClinGen gnomAD
CA6996706 rs745499897	470	L>F		No	ClinGen ExAC gnomAD
CA388333191 rs1472467795	470	L>S		No	ClinGen gnomAD
rs368826517 CA6996705	471	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486739426 CA388333185	471	H>R		No	ClinGen gnomAD
CA388333187 rs368826517	471	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996704 rs770292914	472	R>G		No	ClinGen ExAC gnomAD
CA6996703 rs746991337	473	D>G		No	ClinGen ExAC gnomAD
CA388333174 rs1286478457	473	D>H		No	ClinGen TOPMed gnomAD
rs1286478457 CA388333175	473	D>N		No	ClinGen TOPMed gnomAD
rs752539574 CA6996701	475	M>I		No	ClinGen ExAC TOPMed gnomAD
rs752539574 CA6996700	475	M>I		No	ClinGen ExAC TOPMed gnomAD
CA6996702 rs777648239	475	M>V		No	ClinGen ExAC gnomAD
CA250964313 rs911849667	476	D>Y		No	ClinGen gnomAD
CA6996698 rs755231526	478	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6996699 rs755231526	478	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA388333123 rs1298622694	481	Y>H		No	ClinGen TOPMed
CA6996693 rs768184131	482	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6996692 rs762394580	482	R>Q		No	ClinGen ExAC gnomAD
rs769078988 CA6996690	485	L>V		No	ClinGen ExAC gnomAD
CA6996688 rs770509780	486	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6996687 rs770509780	486	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1315851056 CA388333085	487	L>S		No	ClinGen TOPMed
rs1475902760 CA388333081	488	D>N		No	ClinGen gnomAD
CA6996686 rs746541900	488	D>V		No	ClinGen ExAC
CA388333069 rs1243906607	489	L>F		No	ClinGen gnomAD
rs1305078296 CA388333017	495	I>F		No	ClinGen gnomAD
CA250963950 rs976430008	496	C>Y		No	ClinGen Ensembl
CA6996664 rs748104930	497	I>V		No	ClinGen ExAC gnomAD
CA388332988 rs1286643200	499	Q>P		No	ClinGen gnomAD
rs375508200 CA6996662	500	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388332977 rs1346287390	501	K>E		No	ClinGen gnomAD
CA6996661 rs749081788	501	K>N		No	ClinGen ExAC gnomAD
rs956424200 CA250963949	504	E>G		No	ClinGen TOPMed gnomAD
rs984681917 CA250963948	505	F>S		No	ClinGen TOPMed gnomAD
rs1295333130 CA388332930	507	E>D		No	ClinGen gnomAD
rs1566606170 CA388332920	509	A>T		No	ClinGen Ensembl
rs1438315078 CA388332883	512	L>R		No	ClinGen TOPMed gnomAD
rs1380261877 CA388332879	513	Y>H		No	ClinGen gnomAD
CA388332862 rs1178093698	514	K>E		No	ClinGen gnomAD
rs1566606076 CA388332851	514	K>N		No	ClinGen Ensembl
rs964317571 CA250963248	520	F>L		No	ClinGen TOPMed gnomAD
CA6996640 rs775151037	521	T>A		No	ClinGen ExAC gnomAD
CA6996636 rs757525555	522	D>E		No	ClinGen ExAC TOPMed gnomAD
rs781527819 CA6996638	522	D>H		No	ClinGen ExAC TOPMed gnomAD
rs781527819 CA6996637	522	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1398430321 CA388332075	523	H>Y		No	ClinGen gnomAD
CA250963247 rs994300102	524	Q>*		No	ClinGen TOPMed
rs994300102 CA388332068	524	Q>E		No	ClinGen TOPMed
CA6996635 RCV000612901 rs183098317	524	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6996634 rs777895599	528	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6996633 rs758896445	530	L>F		No	ClinGen ExAC TOPMed gnomAD
CA388332020 rs1415761120	531	Q>K		No	ClinGen TOPMed
CA6996632 rs753182824	532	K>N		No	ClinGen ExAC
CA6996631 rs765541746	533	K>E		No	ClinGen ExAC gnomAD
CA388331997 rs1369355805	534	E>A		No	ClinGen TOPMed
rs1566596416 CA388331992	535	A>T		No	ClinGen Ensembl
CA6996628 rs754169813	539	E>Q		No	ClinGen ExAC gnomAD
rs1232517125 CA388331953	540	L>R		No	ClinGen TOPMed
CA6996626 rs761438053	541	Q>K		No	ClinGen ExAC gnomAD
rs1261795072 CA388331930	543	E>D		No	ClinGen gnomAD
CA6996624 rs762809019	546	A>S		No	ClinGen ExAC gnomAD
CA6996623 COSM3688754 rs762809019	546	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6996622 rs775451884	546	A>V		No	ClinGen ExAC gnomAD
rs1214301235 CA388331888	550	Q>R		No	ClinGen gnomAD
rs1001335762 CA250962922	552	G>D		No	ClinGen TOPMed
rs1455482686 CA388331628	554	L>F		No	ClinGen gnomAD
CA388331624 rs1378440777	555	P>S		No	ClinGen gnomAD
rs1438160975 CA388331617	556	A>D		No	ClinGen gnomAD
rs548373208 CA6996604	558	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA388331591 rs1566591633	560	I>V		No	ClinGen Ensembl
rs752119644 CA250962921	561	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752119644 CA6996603 RCV000991892	561	P>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA388331584 rs1197769319	561	P>T		No	ClinGen gnomAD
rs1235117525 CA388331565	564	P>S		No	ClinGen gnomAD
rs1307684038 CA388331554	566	K>E		No	ClinGen gnomAD
rs765317283 CA6996601	567	E>G		No	ClinGen ExAC gnomAD
rs1393875073 CA388331537	568	G>D		No	ClinGen TOPMed gnomAD
rs776635573 CA6996600	569	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6996599 rs776635573	569	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1292400828 CA388331526	570	T>S		No	ClinGen TOPMed
CA250962919 rs1004902911	572	H>R		No	ClinGen TOPMed
rs770784121 CA388331504	574	A>P		No	ClinGen ExAC gnomAD
CA6996598 rs770784121	574	A>T		No	ClinGen ExAC gnomAD
CA6996596 RCV000613056 rs76366906	578	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760823659 CA6996597	578	P>S		No	ClinGen ExAC gnomAD
CA6996588 rs751204781	587	V>G		No	ClinGen ExAC
rs756449325 CA6996589	587	V>M		No	ClinGen ExAC gnomAD
rs111260336 CA6996586 RCV000603929 RCV000991893	588	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202202714 CA6996584	589	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1293503711 CA388331405	592	P>A		No	ClinGen gnomAD
rs1416285732 CA388331398	593	P>A		No	ClinGen gnomAD
rs766301262 CA388331390	594	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766301262 CA388331391	594	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs766301262 CA6996581	594	P>R		No	ClinGen ExAC TOPMed gnomAD
CA250962918 rs369413972	594	P>T		No	ClinGen Ensembl
rs760556200 CA6996580	595	P>S		No	ClinGen ExAC gnomAD
rs150023947 RCV000615017 CA6996579	596	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761936305 CA6996575	599	L>F		No	ClinGen ExAC gnomAD
rs1312174561 CA388331346	602	M>T		No	ClinGen TOPMed
CA6996573 rs531604354	602	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200231889 CA6996570	603	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996571 rs775933641 COSM3957263	603	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6996569 rs746295750	605	P>S		No	ClinGen ExAC gnomAD
rs187223538 CA6996566	607	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1247258818 CA388331309	608	G>C		No	ClinGen TOPMed gnomAD
rs201109428 CA6996565	608	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6996564 rs778580569	609	P>S		No	ClinGen ExAC gnomAD
CA388331292 rs1239702509	611	P>A		No	ClinGen TOPMed
rs754490079 COSM1367535 CA6996563	611	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1566590843 CA388331277	613	P>Q		No	ClinGen Ensembl
CA6996561 rs200018583	614	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996560 rs200018583	614	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388331271 rs1490758392	615	P>A		No	ClinGen Ensembl
CA388331262 rs1594171506	616	L>R		No	ClinGen Ensembl
rs1430861215 CA388331243	619	L>P		No	ClinGen gnomAD
CA6996558 rs750299647	621	G>R		No	ClinGen ExAC gnomAD
rs1483709797 CA388331224	622	Q>H		No	ClinGen gnomAD
CA6996557 rs370587598	623	N>S		No	ClinGen ESP ExAC gnomAD
rs375644162 CA6996556	624	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394932784 CA388331214	624	S>P		No	ClinGen TOPMed gnomAD
CA6996555 rs375644162	624	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA388331206 rs1463150390	625	P>L		No	ClinGen gnomAD
rs1463150390 CA388331208	625	P>R		No	ClinGen gnomAD
rs764188118 CA6996554	627	L>V		No	ClinGen ExAC
rs763063532 CA6996552	629	I>T		No	ClinGen ExAC
CA6996550 rs770393466	632	F>C		No	ClinGen ExAC gnomAD
rs746360207 CA6996549	633	G>R		No	ClinGen ExAC gnomAD
rs1253958653 CA388331161	633	G>V		No	ClinGen gnomAD
rs746360207 CA388331165	633	G>W		No	ClinGen ExAC gnomAD
rs1178886035 CA388331154	634	L>F		No	ClinGen TOPMed
rs990121904 CA250962917	636	P>S		No	ClinGen TOPMed
CA388331139 rs1566590513	637	K>E		No	ClinGen Ensembl
CA388331113 rs1311629251	639	E>G		No	ClinGen TOPMed gnomAD
CA388331117 rs1271875514	639	E>Q		No	ClinGen gnomAD
rs1452000112 CA388331099	640	F>L		No	ClinGen TOPMed
rs1340858138 CA388331088	640	F>L		No	ClinGen gnomAD
CA6996547 rs369041383	642	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA250962916 rs894140481	642	P>T		No	ClinGen Ensembl
rs778670507 CA6996546	646	M>R		No	ClinGen ExAC TOPMed gnomAD
rs778670507 CA6996545	646	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1416117006 CA388330993	647	R>K		No	ClinGen TOPMed
rs748864335 CA6996543	650	N>S		No	ClinGen ExAC gnomAD
rs1444337146 CA388330924	652	L>V		No	ClinGen gnomAD
rs1176076288 CA388330685	654	I>V		No	ClinGen TOPMed gnomAD
rs1407646336 CA388330636	657	H>P		No	ClinGen TOPMed gnomAD
rs771360069 CA6996525	657	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1488312991 CA388330595	659	M>I		No	ClinGen Ensembl
CA6996524 rs761164083	659	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6996522 rs768488853	661	E>A		No	ClinGen ExAC gnomAD
CA6996523 rs773696632	661	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388330559 rs1485696370	662	N>S		No	ClinGen TOPMed gnomAD
CA250962825 rs968699200	663	C>S		No	ClinGen gnomAD
CA6996520 rs779624741	668	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1284612057 CA388330447	669	N>I		No	ClinGen gnomAD
CA6996519 rs769133602	669	N>K		No	ClinGen ExAC TOPMed
rs1566588794 CA610295367	669	N>K		No	ClinGen Ensembl
rs1284612057 CA388330449	669	N>S		No	ClinGen gnomAD
rs745845934 CA6996518	674	E>G		No	ClinGen ExAC gnomAD
rs999938667 CA250962824	675	N>D		No	ClinGen TOPMed gnomAD
CA6996517 rs781029619	675	N>T		No	ClinGen ExAC gnomAD
rs200920639 CA6996515 COSM141414	676	V>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200920639 CA6996514	676	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA388330334 rs1452185400	677	D>H		No	ClinGen gnomAD
rs1345155839 CA388330305	678	L>F		No	ClinGen gnomAD
CA388330267 rs1160228400	681	K>R		No	ClinGen gnomAD
CA6996512 rs752804389	682	L>F		No	ClinGen ExAC TOPMed gnomAD
CA388330230 rs372054806	683	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388330219 rs759496206	684	N>S		No	ClinGen ExAC gnomAD
CA6996510 rs759496206	684	N>T		No	ClinGen ExAC gnomAD
CA388330206 rs1475363046	685	T>A		No	ClinGen gnomAD
rs1258933191 CA388330203	685	T>R		No	ClinGen gnomAD
rs1489590761 CA388330173 COSM3955681	687	C>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767049279 CA6996508	688	C>Y		No	ClinGen ExAC gnomAD
rs1242650856 CA388330134	690	Q>K		No	ClinGen gnomAD
rs1217922498 CA388330125	690	Q>R		No	ClinGen gnomAD
rs1332366932 CA388330113	691	K>*		No	ClinGen gnomAD
rs1461228494 CA388332810	698	D>E		No	ClinGen gnomAD
rs199556306 CA6996487	699	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388332802 rs1231974840	700	E>K		No	ClinGen TOPMed
RCV000732732 CA250957928 rs1030699025	702	K>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs750910701 CA6996486	702	K>R		No	ClinGen ExAC TOPMed gnomAD
rs762124184 CA388332769	704	S>*		No	ClinGen ExAC gnomAD
rs762124184 COSM948208 CA6996485	704	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6996484 rs762124184	704	S>W		No	ClinGen ExAC gnomAD
CA250957927 rs747780218	706	K>E		No	ClinGen gnomAD
rs759223973 CA6996481	707	K>E		No	ClinGen ExAC TOPMed gnomAD
rs776010269 CA6996480 COSM948206	707	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6996478 rs770369991	710	K>R		No	ClinGen ExAC gnomAD
CA388332684 rs1272919681	713	K>N		No	ClinGen TOPMed
CA388332687 rs1346275468	713	K>R		No	ClinGen TOPMed gnomAD
CA388332686 rs1346275468	713	K>T		No	ClinGen TOPMed gnomAD
rs746976055 CA6996477	716	D>G		No	ClinGen ExAC gnomAD
CA6996476 rs191267920	717	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA250957926 rs1052917617	720	A>V		No	ClinGen TOPMed
rs1423514762 CA388332579	721	Q>H		No	ClinGen TOPMed gnomAD
rs771970114 CA388332559	723	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771970114 CA6996475	723	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6996450 rs772690684	728	S>N		No	ClinGen ExAC gnomAD
rs1566511219 CA388331842	729	S>T		No	ClinGen Ensembl
rs1566511211 CA388331837	729	S>Y		No	ClinGen Ensembl
CA388331832 rs1340914054	730	F>S		No	ClinGen TOPMed
rs1022665909 CA250956987	731	R>Q		No	ClinGen TOPMed gnomAD
rs771964464 CA6996449	731	R>W		No	ClinGen ExAC gnomAD
CA6996448 rs761741463	732	V>G		No	ClinGen ExAC gnomAD
rs774027850 CA6996447	733	P>S		No	ClinGen ExAC gnomAD
rs749502845 CA6996446	734	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs749502845 CA6996445	734	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1444588459 CA388331806	735	E>A		No	ClinGen gnomAD
CA250956986 rs535466645	736	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA388331772 rs1270486726	739	M>I		No	ClinGen gnomAD
CA388331779 rs1244449826	739	M>V		No	ClinGen TOPMed gnomAD
CA388331764 rs1192827397	740	M>I		No	ClinGen TOPMed
CA6996442 rs370401569	741	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6996441 rs746001601	744	V>A		No	ClinGen ExAC gnomAD
rs1350735514 CA388331724	746	E>G		No	ClinGen gnomAD
CA6996440 rs781419560	747	T>A		No	ClinGen ExAC gnomAD
CA250956985 rs568024243	748	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6996438 rs568024243	748	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757710029 CA6996439	748	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778021540 CA6996436	749	L>M		No	ClinGen ExAC gnomAD
CA388331704 rs1460009691	750	A>S		No	ClinGen gnomAD
rs1417443970 CA388331696	751	E>G		No	ClinGen gnomAD
rs758753777 CA6996435	753	M>V		No	ClinGen ExAC TOPMed gnomAD
rs367922833 CA6996434	754	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770994435 CA388331108	756	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770994435 CA6996421	756	N>T		No	ClinGen ExAC TOPMed gnomAD
CA250956568 rs955102170	757	L>I		No	ClinGen Ensembl
rs1177673474 CA388331083	758	I>R		No	ClinGen TOPMed
CA388331082 rs1177673474	758	I>T		No	ClinGen TOPMed
rs554657389 CA6996419	760	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6996418 rs758813459	761	L>I		No	ClinGen ExAC TOPMed gnomAD
CA388331036 rs1271596868	762	P>A		No	ClinGen gnomAD
CA6996416 rs779247938	763	D>E		No	ClinGen ExAC gnomAD
rs1327735988 CA388331023	763	D>N		No	ClinGen TOPMed
CA6996414 rs750026338	768	N>I		No	ClinGen ExAC gnomAD
CA388330931 rs1368030058	769	S>*		No	ClinGen gnomAD
rs1593949118 CA388330892	772	Q>P		No	ClinGen Ensembl
VAR_049098 rs35579086 CA6996413	773	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388330878 rs1443691828	773	F>L		No	ClinGen TOPMed
rs761426641 CA6996412	774	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1344736987 CA388330866	775	S>N		No	ClinGen TOPMed
rs1593948961 CA388330849	777	Y>F		No	ClinGen Ensembl
rs746902796 CA6996411	779	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1224034623 CA388330834	779	N>S		No	ClinGen TOPMed
CA388330826 rs377631849	780	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs993605972 CA250956566	781	C>R		No	ClinGen TOPMed
CA6996409 rs762976893	783	P>R		No	ClinGen ExAC gnomAD
rs1016225037 CA250956564	783	P>S		No	ClinGen Ensembl
rs867577075 CA250956563	784	E>*		No	ClinGen Ensembl
rs374024973 CA388330798	785	Q>E		No	ClinGen ESP TOPMed
rs374024973 CA250956562	785	Q>K		No	ClinGen ESP TOPMed
rs199786163 RCV000841009 CA6996408	785	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751948913 CA250956561	786	F>S		No	ClinGen Ensembl
rs759861398 CA6996406	787	V>L		No	ClinGen ExAC gnomAD
CA6996407 rs759861398	787	V>M		No	ClinGen ExAC gnomAD
CA250956560 rs1016439814	788	V>I		No	ClinGen TOPMed
CA388330756 rs1482188152	790	M>L		No	ClinGen TOPMed
rs1012988621 CA250952923	792	N>K		No	ClinGen TOPMed
rs768751153 CA250952924	792	N>S		No	ClinGen Ensembl
CA388330730 rs1399290066	793	V>G		No	ClinGen gnomAD
rs1407801639 CA388330725	794	K>T		No	ClinGen gnomAD
CA388330711 rs1421448148	796	L>P		No	ClinGen TOPMed
CA388330707 COSM1580768 rs765155532	797	R>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765155532 CA6996389	797	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200291290 RCV000841245 CA6996390	797	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759444400 CA6996388	799	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA250952922 rs909164622	799	R>W		No	ClinGen TOPMed gnomAD
rs1213603917 CA388330683	801	S>R		No	ClinGen gnomAD
rs776272180 CA6996387	803	I>V		No	ClinGen ExAC gnomAD
CA388330642 rs1268587590	804	L>P		No	ClinGen gnomAD
CA388330635 rs1229182267	805	F>L		No	ClinGen gnomAD
rs760805490 CA6996385	810	E>K		No	ClinGen ExAC gnomAD
rs539748255 CA6996384	811	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384521792 CA388330511	813	V>G		No	ClinGen TOPMed
CA6996382 rs748683325	814	N>S		No	ClinGen ExAC gnomAD
CA388330480 rs774874379	816	I>F		No	ClinGen ExAC TOPMed gnomAD
rs774874379 CA388330482	816	I>L		No	ClinGen ExAC TOPMed gnomAD
CA388330473 rs1388291402	816	I>M		No	ClinGen TOPMed gnomAD
CA6996381 rs774874379	816	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388330448 rs1295119114	818	P>L		No	ClinGen TOPMed
rs769126351 CA6996380	818	P>S		No	ClinGen ExAC gnomAD
CA6996379 rs749719774	821	M>I		No	ClinGen ExAC TOPMed gnomAD
rs780275700 CA6996378	822	A>T		No	ClinGen ExAC gnomAD
rs756938496 CA6996377	822	A>V		No	ClinGen ExAC gnomAD
CA6996376 rs375091894	823	V>I		No	ClinGen ESP ExAC gnomAD
CA388330377 rs1227917146	824	S>C		No	ClinGen TOPMed
rs780132485 CA6996375	825	T>I		No	ClinGen ExAC TOPMed gnomAD
rs199537865 CA388330339	827	C>*		No	ClinGen ExAC TOPMed gnomAD
CA6996372 COSM948203 rs765318944	828	E>K	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6996371 rs754957108	829	E>V		No	ClinGen ExAC gnomAD
rs1267289884 CA388330308	830	I>L		No	ClinGen TOPMed
rs753736610 CA6996370	830	I>M		No	ClinGen ExAC gnomAD
CA388330289 rs1314957803	831	K>N		No	ClinGen gnomAD
rs368789801 CA6996369	831	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213257233 CA388330285	832	K>*		No	ClinGen gnomAD
CA250952919 rs1033807656	834	K>E		No	ClinGen Ensembl
rs1195967463 CA388330226	836	F>L		No	ClinGen TOPMed
rs767692491 CA6996366	838	K>M		No	ClinGen ExAC TOPMed gnomAD
rs767692491 CA6996365	838	K>R		No	ClinGen ExAC TOPMed gnomAD
CA388330186 rs1292576063	839	L>V		No	ClinGen TOPMed gnomAD
rs761926975 CA6996364	841	E>K		No	ClinGen ExAC gnomAD
CA388330140 rs1390733573	843	V>I		No	ClinGen gnomAD
CA6996360 rs769218373	846	M>I		No	ClinGen ExAC gnomAD
CA388330046 rs1488932668	852	A>S		No	ClinGen gnomAD
rs1010254340 CA250952916	854	S>A		No	ClinGen Ensembl
CA388330030 rs866287745	855	R>L		No	ClinGen gnomAD
CA250952915 rs866287745	855	R>Q		No	ClinGen gnomAD
rs375470625 COSM948201 CA6996356	855	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6996354 rs777608765	856	N>D		No	ClinGen ExAC gnomAD
rs771828799 CA6996353	859	T>I		No	ClinGen ExAC gnomAD
rs368347883 COSM948200 CA250952914	861	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs754949593 CA6996350	864	L>R		No	ClinGen ExAC gnomAD
CA6996349 rs373904340	865	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370678717 CA388329958	866	S>C		No	ClinGen gnomAD
rs779927488 CA388329949	868	C>R		No	ClinGen ExAC gnomAD
rs1207198427 CA388329946	868	C>S		No	ClinGen gnomAD
CA6996348 rs779927488	868	C>S		No	ClinGen ExAC gnomAD
rs533155352 CA250952912	869	K>E		No	ClinGen Ensembl
rs1260304607 CA388329917	870	L>V		No	ClinGen TOPMed
CA6996329 rs377702851	873	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA388329896 rs1213231291	873	T>S		No	ClinGen TOPMed
rs1469844808 CA388329884	875	S>A		No	ClinGen TOPMed
rs1230903797 CA388329878	876	A>T		No	ClinGen gnomAD
CA6996327 rs748797648	877	D>N		No	ClinGen ExAC gnomAD
rs1368482304 CA388329861	878	Q>R		No	ClinGen Ensembl
CA388329855 rs1334745024	879	K>*		No	ClinGen gnomAD
CA388329856 rs1334745024	879	K>E		No	ClinGen gnomAD
CA250951012 rs932213809	881	T>M		No	ClinGen TOPMed gnomAD
rs1456873008 CA388329832	883	L>F		No	ClinGen gnomAD
rs1593721830 CA388329825	884	H>Y		No	ClinGen Ensembl
rs1413001450 CA388329786	889	I>M		No	ClinGen gnomAD
rs1566429192 CA388329783	890	C>R		No	ClinGen Ensembl
rs74451107 CA250951010	890	C>S		No	ClinGen Ensembl
CA388329776 rs1321535825	891	E>*		No	ClinGen Ensembl
CA388329744 rs1335046372	895	P>R		No	ClinGen gnomAD
CA250951008 rs1051013995	895	P>T		No	ClinGen gnomAD
rs561288173 CA6996324	897	I>T		No	ClinGen ExAC gnomAD
rs757481645 CA6996322	900	F>V		No	ClinGen ExAC gnomAD
rs760423710 CA250951007	902	D>G		No	ClinGen Ensembl
rs1465672710 CA388329694	903	D>Y		No	ClinGen gnomAD
CA6996320 rs764267069	905	E>Q		No	ClinGen ExAC gnomAD
rs1207771922 CA388329672	906	P>A		No	ClinGen gnomAD
rs533285870 CA250951005	907	L>F		No	ClinGen 1000Genomes
CA250951006 rs933929965	907	L>S		No	ClinGen Ensembl
rs758450237 CA6996319	908	D>E		No	ClinGen ExAC gnomAD
rs1308198264 CA388329659	908	D>G		No	ClinGen Ensembl
CA250951004 rs920921346	908	D>N		No	ClinGen TOPMed
rs752800540 CA6996318	909	K>R		No	ClinGen ExAC TOPMed
rs765722512 CA6996317	910	A>G		No	ClinGen ExAC gnomAD
rs760087986 CA6996316	912	K>R		No	ClinGen ExAC gnomAD
CA6996290 rs769298730	915	V>A		No	ClinGen ExAC gnomAD
CA388328491 rs1410531660	915	V>I		No	ClinGen gnomAD
rs1410531660 CA388328489	915	V>L		No	ClinGen gnomAD
rs372502709 CA6996289 COSM1203584	917	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6996287 rs770833778	918	L>M		No	ClinGen ExAC gnomAD
CA388328473 rs770833778	918	L>V		No	ClinGen ExAC gnomAD
CA6996285 rs375282276	920	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327376566 CA388328415	926	G>*		No	ClinGen TOPMed gnomAD
COSM3704691 rs199833209 CA6996284	926	G>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA250948561 rs1044605228	927	R>G		No	ClinGen TOPMed
CA388328409 rs1229056731	927	R>K		No	ClinGen gnomAD
CA250948560 rs865909455	927	R>S		No	ClinGen Ensembl
rs1001583947 CA250948559	931	Q>L		No	ClinGen gnomAD
CA250948558 rs1014065328	934	K>E		No	ClinGen TOPMed
CA6996281 rs753942693	935	E>*		No	ClinGen ExAC TOPMed gnomAD
CA6996280 rs753942693	935	E>K		No	ClinGen ExAC TOPMed gnomAD
CA388328348 rs780759637	936	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1336561933 CA388328340	937	E>K		No	ClinGen gnomAD
CA388328331 rs1223105391	938	T>N		No	ClinGen TOPMed
rs895652510 CA6996276	939	F>L		No	ClinGen TOPMed gnomAD
CA388328320 rs201024887	940	P>A		No	ClinGen ExAC TOPMed gnomAD
CA388328317 rs1208064128	940	P>L		No	ClinGen TOPMed
rs201024887 COSM74375 CA6996275	940	P>S	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6996274 rs767863890	941	P>H		No	ClinGen ExAC gnomAD
rs1279076319 CA388328311	942	P>T		No	ClinGen TOPMed
CA388328288 rs1473285586	945	L>V		No	ClinGen gnomAD
CA388328285 rs1411071341	945	L>W		No	ClinGen gnomAD
rs540473187 CA6996273	946	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388328277 rs764840123	946	H>Q		No	ClinGen ExAC gnomAD
CA6996272 rs540473187	946	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239536384 CA388328272	947	D>G		No	ClinGen TOPMed
rs1267706706 CA388328230	953	M>K		No	ClinGen gnomAD
rs776107505 CA6996269	953	M>L		No	ClinGen ExAC gnomAD
rs568345079 CA6996247	955	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1429041361 CA388327833	957	V>F		No	ClinGen gnomAD
CA6996246 rs761721396	958	I>F		No	ClinGen ExAC TOPMed gnomAD
CA388327828 rs761721396	958	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388327818 rs1226594743	959	S>I		No	ClinGen TOPMed
CA388327811 rs1431277529	960	A>G		No	ClinGen gnomAD
CA250947878 rs905752533	962	E>Q		No	ClinGen TOPMed
CA388327793 rs1265496665	963	Q>K		No	ClinGen gnomAD
CA6996244 rs374837449	964	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368173151 CA6996245	964	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs867537800 CA250947877	965	E>D		No	ClinGen gnomAD
CA250947876 rs998618822	966	T>A		No	ClinGen Ensembl
rs749460279 COSM3417670 CA6996243	968	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1203549142 CA388327762	968	S>P		No	ClinGen TOPMed gnomAD
CA388327756 rs780301780	969	K>*		No	ClinGen ExAC gnomAD
CA6996242 rs780301780	969	K>Q		No	ClinGen ExAC gnomAD
rs1593597197 CA388327750	970	L>V		No	ClinGen Ensembl
CA6996240 rs779850464	971	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6996239 COSM948198 rs781747042	972	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA388327709 rs1483722634	975	E>A		No	ClinGen TOPMed gnomAD
CA388327708 rs1483722634	975	E>G		No	ClinGen TOPMed gnomAD
CA388327667 rs778047401	980	S>R		No	ClinGen ExAC gnomAD
CA6996236 rs778047401	980	S>R		No	ClinGen ExAC gnomAD
CA388327673 rs1566382419	980	S>R		No	ClinGen Ensembl
rs754642174 CA6996235	982	I>T		No	ClinGen ExAC TOPMed gnomAD
rs753441646 CA6996234	983	G>E		No	ClinGen ExAC gnomAD
CA388327643 rs1203778488	984	Y>F		No	ClinGen gnomAD
rs765571186 CA6996231	985	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA388327636 rs1376914258	985	Y>C		No	ClinGen gnomAD
CA388327623 rs1566382266	987	I>T		No	ClinGen Ensembl
CA388327601 rs774297605	990	K>N		No	ClinGen ExAC TOPMed gnomAD
rs761586647 CA6996229	990	K>T		No	ClinGen ExAC TOPMed
rs531346416 CA6996227	991	K>*		No	ClinGen 1000Genomes ExAC gnomAD
rs866583748 CA250947874	991	K>N		No	ClinGen TOPMed
CA6996226 rs758416030	991	K>T		No	ClinGen ExAC TOPMed gnomAD
CA6996225 rs200914646	992	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA250947873 rs1005610578	993	S>F		No	ClinGen Ensembl
rs1233439533 CA388327579	994	V>G		No	ClinGen gnomAD
CA388327584 rs1255787321	994	V>M		No	ClinGen TOPMed gnomAD
CA388327575 rs767162052	995	E>A		No	ClinGen Ensembl
CA250947872 rs767162052	995	E>G		No	ClinGen Ensembl
CA6996223 rs746019091	996	D>A		No	ClinGen ExAC gnomAD
rs1309039234 CA388327552	998	L>P		No	ClinGen gnomAD
rs1299384598 CA388327545	999	T>I		No	ClinGen TOPMed
CA388327550 rs1225607517	999	T>P		No	ClinGen TOPMed
rs1566381951 CA388327527	1002	N>S		No	ClinGen Ensembl
CA6996220 rs771476447	1007	T>I		No	ClinGen ExAC gnomAD
rs978946306 CA250947869	1008	F>L		No	ClinGen gnomAD
rs978946306 CA388327483	1008	F>L		No	ClinGen gnomAD
rs1330526168 CA388329326	1010	Q>*		No	ClinGen TOPMed gnomAD
rs1330526168 CA388329325	1010	Q>K		No	ClinGen TOPMed gnomAD
CA388329323 rs1303867345	1010	Q>R		No	ClinGen gnomAD
rs1407239240 CA388329314	1011	A>V		No	ClinGen gnomAD
rs1403601226 CA388329307	1012	I>M		No	ClinGen TOPMed
CA388329289 rs1163446641	1015	N>H		No	ClinGen TOPMed
rs1219143616 CA388329284	1015	N>K		No	ClinGen gnomAD
rs1410870797 CA388329276	1016	I>M		No	ClinGen gnomAD
CA388329279 rs1308000751	1016	I>N		No	ClinGen gnomAD
rs1308000751 CA388329277	1016	I>S		No	ClinGen gnomAD
CA388329275 rs1422171515	1017	K>Q		No	ClinGen gnomAD
CA6996181 rs766596005	1017	K>R		No	ClinGen ExAC TOPMed gnomAD
rs760796730 CA6996179	1020	E>D		No	ClinGen ExAC gnomAD
rs1566345206 CA388329203	1026	K>I		No	ClinGen Ensembl
rs772568208 CA6996175	1027	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142015799 CA6996174	1027	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388329196 rs541616926	1028	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6996173 rs541616926 RCV000513085	1028	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6996171 rs528337122	1035	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1593512224 CA388329137	1036	E>A		No	ClinGen Ensembl
rs780755716 CA6996170	1036	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6996169 rs770692494	1037	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6996168 rs568088579	1037	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777352266 CA6996167	1039	R>G		No	ClinGen ExAC gnomAD
rs758425046 CA6996166	1039	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6996165 rs752530318	1040	L>F		No	ClinGen ExAC gnomAD
CA250945306 rs371429652	1041	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_049099 rs7491389 CA250945305	1041	E>G		No	ClinGen UniProt TOPMed dbSNP
CA6996162 rs371429652	1041	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs760815388 CA6996160 RCV000839772	1042	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200189161 CA6996159 RCV000657950 COSM948195	1042	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760815388 CA6996161	1042	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6996158 rs767533339	1044	Q>E		No	ClinGen ExAC gnomAD
CA6996157 rs79255785	1044	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200684775 CA6996155	1048	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200684775 CA6996154	1048	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996153 rs775919583	1048	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1327097019 CA388329049	1051	E>Q		No	ClinGen gnomAD
CA388329027 rs1433221955	1053	K>N		No	ClinGen gnomAD
rs1283662770 CA388329033	1053	K>Q		No	ClinGen gnomAD
CA388327459 rs1419038274	1055	E>G		No	ClinGen gnomAD
CA388329019 rs1376198416	1055	E>K		No	ClinGen gnomAD
rs1486882338 CA388327454	1056	G>C		No	ClinGen gnomAD
rs1245069375 CA388327451	1056	G>V		No	ClinGen gnomAD
rs374884917 CA250941393	1057	D>N		No	ClinGen TOPMed gnomAD
rs1490662737 CA388327434	1059	T>A		No	ClinGen gnomAD
CA6996127 rs779852860	1059	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6996125 rs201791921	1062	M>R		No	ClinGen ExAC gnomAD
CA250941392 rs201791921	1062	M>T		No	ClinGen ExAC gnomAD
rs1295829065 CA388327411 COSM1477290	1063	D>N	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388327388 rs1215971444	1066	L>P		No	ClinGen gnomAD
CA6996124 rs757495408	1070	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs757495408 CA6996123	1070	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6996121 rs751595565	1070	Q>H		No	ClinGen ExAC gnomAD
CA388327344 rs1461292889	1073	A>S		No	ClinGen gnomAD
rs201517886 COSM1580767 CA6996120	1076	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6996119 rs200654315	1076	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760029457 CA6996116	1077	D>G		No	ClinGen ExAC gnomAD
rs765809400 CA6996117	1077	D>N		No	ClinGen ExAC TOPMed gnomAD
CA250941391 rs544328549	1080	K>R		No	ClinGen 1000Genomes gnomAD
CA6996113 rs767349693	1081	R>K		No	ClinGen ExAC gnomAD
COSM1367529 rs376432274 CA6996111	1083	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201971399 CA250941390	1084	M>I		No	ClinGen Ensembl
CA6996109 rs762335116	1084	M>L		No	ClinGen ExAC gnomAD
CA388327241 rs1287874647	1087	D>G		No	ClinGen gnomAD
rs759456145 CA6996083	1089	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759456145 CA6996084	1089	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1156923369 CA388327230 COSM948190	1089	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA388327226 rs1292464062	1090	Q>*		No	ClinGen TOPMed
rs369779991 CA388327221	1090	Q>H		No	ClinGen ESP ExAC gnomAD
rs1013255520 CA250941352	1091	S>I		No	ClinGen TOPMed gnomAD
CA388327216 rs1013255520	1091	S>T		No	ClinGen TOPMed gnomAD
rs1242934663 CA388327213	1092	L>F		No	ClinGen gnomAD
rs778077172 CA6996080	1093	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6996081 rs778077172	1093	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6996078 rs772125942	1093	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6996079 rs778077172	1093	S>T		No	ClinGen ExAC TOPMed gnomAD
CA388327198 rs1204002568	1094	P>L		No	ClinGen gnomAD
CA6996077 rs199814282	1095	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443207416 CA388327179	1097	Q>R		No	ClinGen TOPMed
rs567082956 CA6996076	1098	R>K		No	ClinGen ExAC TOPMed gnomAD
CA388327170 rs1242527712	1098	R>S		No	ClinGen gnomAD
rs1358374287 CA388327169	1099	P>S		No	ClinGen gnomAD
CA388327153 rs1315505221	1101	L>P		No	ClinGen gnomAD
rs1390642634 CA388327118	1106	H>R		No	ClinGen gnomAD
rs755596264 CA6996074	1107	E>K		No	ClinGen ExAC gnomAD
CA6996057 rs774618164	1107	E>V		No	ClinGen ExAC TOPMed gnomAD
CA6996056 rs768891257	1108	N>S		No	ClinGen ExAC gnomAD
CA388326014 rs1166886036	1109	Q>L		No	ClinGen gnomAD
CA388326000 rs1374243243	1111	V>A		No	ClinGen gnomAD
rs751961109 CA250929966	1111	V>M		No	ClinGen TOPMed gnomAD
rs1196617009 CA388325989	1113	L>V		No	ClinGen TOPMed gnomAD
CA6996054 rs780627528	1114	T>A		No	ClinGen ExAC gnomAD
rs756513212 CA6996053	1117	S>A		No	ClinGen ExAC TOPMed gnomAD
CA6996052 rs76626460	1118	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6996051 rs781398725	1118	R>H		No	ClinGen ExAC gnomAD
rs758095352 CA6996050	1120	H>N		No	ClinGen ExAC gnomAD
rs1370733521 CA388325939	1121	Y>C		No	ClinGen Ensembl
rs1282536568 CA388325933	1122	N>D		No	ClinGen TOPMed
CA250929962 COSM432526 rs963183930	1122	N>S	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1209562355 CA388325924	1123	I>T		No	ClinGen TOPMed
rs752314880 CA6996049	1124	N>D		No	ClinGen ExAC gnomAD
rs754504888 CA6996047	1130	T>A		No	ClinGen ExAC gnomAD
CA6996046 rs753227453	1130	T>S		No	ClinGen ExAC gnomAD
CA250929959 rs970875836	1132	V>L		No	ClinGen Ensembl
CA6996043 rs188721921	1133	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188721921 CA250929958	1133	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6996042 rs188721921	1133	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185934045 CA388325849	1135	E>G		No	ClinGen gnomAD
rs761664848 CA6996041	1135	E>K		No	ClinGen ExAC gnomAD
CA6996040 rs768944399	1136	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6996039 rs768944399	1136	L>I		No	ClinGen ExAC TOPMed gnomAD
rs768944399 CA388325845	1136	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1201413174 CA388325829	1138	Y>C		No	ClinGen gnomAD
rs1457605977 CA388325832	1138	Y>H		No	ClinGen TOPMed
CA6996038 rs372728091	1139	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770391478 CA388325793	1143	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6996037 rs775429843	1143	H>R		No	ClinGen ExAC gnomAD
COSM1514651 rs1330263728 CA388325797	1143	H>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1439410037 CA388325787	1144	T>M		No	ClinGen TOPMed gnomAD
rs1322828740 CA388325780	1146	T>A		No	ClinGen gnomAD
CA6996033 rs781650639	1147	G>R		No	ClinGen ExAC TOPMed gnomAD
CA388325774 rs781650639	1147	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6996032 rs184980569	1148	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6996031 rs542244058	1151	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA388325739 rs1251121199	1152	A>S		No	ClinGen gnomAD
rs754556491 CA6996029	1154	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6996028 rs753452623	1155	K>T		No	ClinGen ExAC gnomAD
CA6996027 rs758932733	1156	E>G		No	ClinGen ExAC TOPMed gnomAD
CA388325703 rs201156125	1157	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388325706 rs1032371095	1157	A>P		No	ClinGen gnomAD
rs1032371095 CA250929955	1157	A>S		No	ClinGen gnomAD
CA6996026 rs201156125	1157	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767517331 CA6996024	1158	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6996022 rs751335929	1160	V>A		No	ClinGen ExAC TOPMed gnomAD
CA250929954 rs1008277624	1161	E>D		No	ClinGen TOPMed gnomAD
CA6996021 rs201240413	1162	S>R		No	ClinGen 1000Genomes ExAC
rs763073477 CA6996020	1163	N>K		No	ClinGen ExAC gnomAD
CA6996018 rs775688879	1167	E>K		No	ClinGen ExAC gnomAD
rs772731233 CA250929953	1168	T>M		No	ClinGen TOPMed
rs759620439 CA6996016	1169	E>V		No	ClinGen ExAC TOPMed
rs771369163 CA6996014	1173	S>F		No	ClinGen ExAC gnomAD
rs1468924591 CA388325591	1174	F>C		No	ClinGen TOPMed
CA6996012 rs778104687	1175	S>F		No	ClinGen ExAC
rs1309315145 CA388325572	1177	N>T		No	ClinGen gnomAD
rs755606828 CA6996007	1180	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779651490 CA6996008	1180	V>F		No	ClinGen ExAC gnomAD
rs781283166 CA6996005	1181	P>L		No	ClinGen ExAC gnomAD
CA6996006 rs749894967	1181	P>S		No	ClinGen ExAC gnomAD
rs756660986 RCV000598925	1182	E>missing		No	ClinVar dbSNP
CA6996001 rs202170474	1182	E>K		No	ClinGen 1000Genomes ExAC
CA6995999 rs763276771	1184	E>K		No	ClinGen ExAC gnomAD
CA388325509 rs1350483989	1188	A>T		No	ClinGen TOPMed
CA6995997 rs765450860	1189	R>G		No	ClinGen ExAC gnomAD
rs759547406 COSM348855 CA6995996	1189	R>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1489570178 CA388325494	1190	L>*		No	ClinGen gnomAD
RCV000360058 rs546723182 COSM1203585 CA6995994	1191	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA388325489 rs765346256	1191	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6995993 rs765346256	1191	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375648930 CA6995992	1193	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA388325472 rs1210834080	1194	L>L		No	ClinGen gnomAD

1 associated diseases with Q9NSV4

[MIM: 609129]: Auditory neuropathy, autosomal dominant 1 (AUNA1)

A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. {ECO:0000269|PubMed:20624953}. Note=The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression. {ECO:0000269|PubMed:20624953}.

Without disease ID

A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. {ECO:0000269|PubMed:20624953}. Note=The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression. {ECO:0000269|PubMed:20624953}.

4 regional properties for Q9NSV4

Type	Name	Position	InterPro Accession
domain	Formin, FH3 domain	302 - 489	IPR010472
domain	Formin, GTPase-binding domain	113 - 297	IPR010473
domain	Diaphanous autoregulatory (DAD) domain	1057 - 1087	IPR014767
domain	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	114 - 476	IPR014768

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis (PubMed:18755006, PubMed:19457867) Shuttles between the cytoplasm and the nucleus (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
small GTPase binding	Binding to a small monomeric GTPase.

3 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48608	dia	Protein diaphanous	Drosophila melanogaster (Fruit fly)	EV
Q27J81	INF2	Inverted formin-2	Homo sapiens (Human)	EV
O60610	DIAPH1	Protein diaphanous homolog 1	Homo sapiens (Human)	SS
O60879	DIAPH2	Protein diaphanous homolog 2	Homo sapiens (Human)	SS
O08808	Diaph1	Protein diaphanous homolog 1	Mus musculus (Mouse)	EV
O70566	Diaph2	Protein diaphanous homolog 2	Mus musculus (Mouse)	SS
Q9Z207	Diaph3	Protein diaphanous homolog 3	Mus musculus (Mouse)	SS
F1M775	Diaph1	Protein diaphanous homolog 1	Rattus norvegicus (Rat)	SS
F1LVW7	Diaph3	Protein diaphanous homolog 3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MERHQPRLHH	PAQGSAAGTP	YPSSASLRGC	RESKMPRRKG	PQHPPPPSGP	EEPGEKRPKF
70	80	90	100	110	120
HLNIRTLTDD	MLDKFASIRI	PGSKKERPPL	PNLKTAFASS	DCSAAPLEMM	ENFPKPLSEN
130	140	150	160	170	180
ELLELFEKMM	EDMNLNEDKK	APLREKDFSI	KKEMVMQYIN	TASKTGSLKR	SRQISPQEFI
190	200	210	220	230	240
HELKMGSADE	RLVTCLESLR	VSLTSNPVSW	VESFGHEGLG	LLLDILEKLI	SGKIQEKVVK
250	260	270	280	290	300
KNQHKVIQCL	KALMNTQYGL	ERIMSEERSL	SLLAKAVDPR	HPNMMTDVVK	LLSAVCIVGE
310	320	330	340	350	360
ESILEEVLEA	LTSAGEEKKI	DRFFCIVEGL	RHNSVQLQVA	CMQLINALVT	SPDDLDFRLH
370	380	390	400	410	420
IRNEFMRCGL	KEILPNLKCI	KNDGLDIQLK	VFDEHKEEDL	FELSHRLEDI	RAELDEAYDV
430	440	450	460	470	480
YNMVWSTVKE	TRAEGYFISI	LQHLLLIRND	YFIRQQYFKL	IDECVSQIVL	HRDGMDPDFT
490	500	510	520	530	540
YRKRLDLDLT	QFVDICIDQA	KLEEFEEKAS	ELYKKFEKEF	TDHQETQAEL	QKKEAKINEL
550	560	570	580	590	600
QAELQAFKSQ	FGALPADCNI	PLPPSKEGGT	GHSALPPPPP	LPSGGGVPPP	PPPPPPPPLP
610	620	630	640	650	660
GMRMPFSGPV	PPPPPLGFLG	GQNSPPLPIL	PFGLKPKKEF	KPEISMRRLN	WLKIRPHEMT
670	680	690	700	710	720
ENCFWIKVNE	NKYENVDLLC	KLENTFCCQQ	KERREEEDIE	EKKSIKKKIK	ELKFLDSKIA
730	740	750	760	770	780
QNLSIFLSSF	RVPYEEIRMM	ILEVDETRLA	ESMIQNLIKH	LPDQEQLNSL	SQFKSEYSNL
790	800	810	820	830	840
CEPEQFVVVM	SNVKRLRPRL	SAILFKLQFE	EQVNNIKPDI	MAVSTACEEI	KKSKSFSKLL
850	860	870	880	890	900
ELVLLMGNYM	NAGSRNAQTF	GFNLSSLCKL	KDTKSADQKT	TLLHFLVEIC	EEKYPDILNF
910	920	930	940	950	960
VDDLEPLDKA	SKVSVETLEK	NLRQMGRQLQ	QLEKELETFP	PPEDLHDKFV	TKMSRFVISA
970	980	990	1000	1010	1020
KEQYETLSKL	HENMEKLYQS	IIGYYAIDVK	KVSVEDFLTD	LNNFRTTFMQ	AIKENIKKRE
1030	1040	1050	1060	1070	1080
AEEKEKRVRI	AKELAERERL	ERQQKKKRLL	EMKTEGDETG	VMDNLLEALQ	SGAAFRDRRK
1090	1100	1110	1120	1130	1140
RTPMPKDVRQ	SLSPMSQRPV	LKVCNHENQK	VQLTEGSRSH	YNINCNSTRT	PVAKELNYNL
1150	1160	1170	1180	1190
DTHTSTGRIK	AAEKKEACNV	ESNRKKETEL	LGSFSKNESV	PEVEALLARL	RAL