AiPD: Autoinhibited Protein Database

O60610

Gene name	DIAPH1 (DIAP1)
Protein name	Protein diaphanous homolog 1
Names	Diaphanous-related formin-1, DRF1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1729
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)

1162-1217 (DAD domain) SS

Target domain	140-387 (DID domain)
Relief mechanism	Partner binding
Assay

AID

1162-1217 (DAD domain)

Target domain

140-387 (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

2 structures for O60610

Entry ID	Method	Resolution	Chain	Position	Source
8FG1	NMR	-			PDB
AF-O60610-F1	Predicted				AlphaFoldDB

905 variants for O60610

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000984508 rs1596421912	27	P>missing	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2099897674 RCV001332582	52	F>L	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA3479666 rs142480526 RCV000403149	67	A>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs184081055 CA3479664 RCV000697821	73	A>T	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3479659 RCV001882470 RCV001151821 rs748806020	77	D>G	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1292590118 CA361546475 RCV000806357	78	D>E	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3479653 rs368889655 RCV000690145	87	V>I	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000380141 RCV001855165 rs371994484 RCV000319218 CA3479623	115	E>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000625785 CA361540052 rs369494682	209	Y>*	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2099896902 RCV001157270	222	K>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA361539449 rs1554209582 RCV000624740	228	K>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3479494 rs766359994 RCV000688907	242	L>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778493344 RCV000609758 RCV001854140 CA3479484	272	P>A	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3479344 RCV000526185 rs367981585	423	D>E	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000362370 rs748159908 CA3479330	429	Q>H	Nonsyndromic Hearing Loss, Mixed [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200004048 CA175665 RCV000652771 RCV000150405	455	R>Q	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000437504 RCV000612807 CA3479301 rs193036129 RCV000271037	475	E>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361524289 RCV001152953 rs1393807954	500	V>M	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002055960 RCV000150404 RCV000365633 rs373413837 CA175663	508	D>G	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001151714 rs2099895757	511	Q>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001041831 rs2099895754	517	Q>*	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001151713 rs747462106 CA3479259	532	T>A	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000705891 rs1317819365 CA361522898	547	E>Q	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001151712 rs2099895618	556	E>Q	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA10619213 RCV000301637 RCV001861250 rs746371106	582	V>L	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000652764 rs201719002 CA3479219	583	P>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001859700 CA3479215 rs189809247 RCV000307219	590	G>D	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000398170 RCV000725896 RCV000214076 rs189809247 CA3479214	590	G>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3075570 RCV001223317	614	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001238504 rs3075570	615	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
rs3075570 RCV000689036	616	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000652783 rs3075570	617	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
rs3075570 RCV000652770	618	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000686307 rs1562320961	618	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000555012 rs3075570 RCV000607182 RCV000342257	619	P>missing	Autosomal dominant nonsyndromic hearing loss 1 Nonsyndromic Hearing Loss, Mixed [ClinVar]	Yes	ClinVar dbSNP
RCV000223617 rs3075570 RCV000600201	620	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000543790 RCV000514338 RCV000216693 rs3075570	620	P>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA10620387 rs886060032 RCV000306053	648	D>G	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000652768 CA10620385 RCV000398178 rs367669306	655	P>H	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3479185 RCV000652780 rs367669306	655	P>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200735096 CA3479181 RCV000554102	662	G>D	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001157173 rs2099895558	664	P>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA361519213 RCV001002757 rs1284785470	669	L>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs751847293 CA3479179 RCV000531978	670	P>L	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766804741 CA3479178 RCV000336345 RCV002061256	671	G>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000281485 RCV000652776 CA3479173 VAR_079874 rs186370335	678	P>S	DFNA1 Autosomal dominant nonsyndromic hearing loss 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs778995744 RCV000735749 CA3479167	694	L>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3479163 RCV000546849 rs199830182	700	I>N	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000662223 CA361518184 rs201433617 RCV000662222	703	P>S	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000652763 RCV000519502 rs200606811 CA3479142	720	L>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000375883 CA10623018 RCV000652769 rs373520931	721	P>H	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA3479135 RCV000349361 RCV000607967 rs374788809	734	G>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs199749212 CA3479133 RCV000652774	742	P>A	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001778935 RCV001861249 RCV000294388 CA3479125 rs762969077	758	P>L	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1562319896 RCV000779464	771	K>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000162177 rs730882242 CA210348 RCV000201793	778	Q>*	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Epilepsy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs369255077 CA3479118 RCV000602949 RCV000388207	778	Q>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000693323 CA3479114 rs532205362	785	S>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000699939 rs766731479 CA3479080	808	N>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000333747 rs200220260 RCV000557145 CA175661 RCV000150403	842	Q>P	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001217050 rs2099888710	847	K>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001333372 CA361586587 rs1554201531 RCV000652773	868	R>C	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001155492 rs1596340326	876	N>T	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
rs200251893 RCV000696551 CA3478988	890	M>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000269313 rs727502961 RCV000150402 CA175659	891	I>T	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001198779 CA361585871 rs767712795	911	K>N	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000201796 rs863225242	923	F>missing	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ClinVar]	Yes	ClinVar dbSNP
CA361585531 RCV001154658 RCV001772349 rs1277130012	927	M>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000695410 rs200688040 CA3478947	934	R>W	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs370849059 RCV000155085 RCV001850124 CA182141	975	N>S	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361584290 RCV000812521 rs1431409262	982	L>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1596339533 RCV001028027 CA361584280	982	L>R	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000549611 CA361583801 rs1554201371	1001	I>M	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA182139 RCV000155084 RCV000694570 rs376220834	1017	M>T	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000652765 rs1303934222 CA361583177	1033	D>N	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs863225243 RCV000201798 CA279568 RCV000255778	1049	R>*	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000987608 CA128424570 RCV001573184 rs868531732	1051	S>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000987607 rs1003389476 CA361581759	1053	E>*	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1003389476 RCV000697895 CA128424566	1053	E>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001199113 rs1409823509	1054	N>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
rs200394036 RCV000701741 CA3478844	1059	L>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs143763573 CA3478833 RCV000382860 RCV000219055 RCV000560299	1076	F>C	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000512994 CA3478804 RCV000652766 rs781577050	1105	R>W	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3478800 RCV000534050 rs756003432	1120	E>K	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000652761 CA361578342 rs1554200929	1136	M>L	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs764296073 RCV001154655	1156	R>P	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA361577443 rs747116749 RCV000701446	1162	M>I	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1064797096 RCV000488304	1210	A>missing	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000733671 CA10576652 rs876657776 RCV000216048 RCV000488049	1213	R>*	Autosomal dominant nonsyndromic hearing loss 1 Rare genetic deafness [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs373679838 CA3478733 RCV001196585	1214	R>Q	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000548020 rs764739820 CA3478674	1234	A>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10576651 RCV001853443 RCV000221090 rs761387295	1235	S>W	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361572366 rs1554199642 RCV000652772	1243	M>V	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001154654 rs749871871	1246	V>F	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinVar dbSNP
CA3478658 rs371664456 RCV000652767	1270	R>H	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA361571674 RCV000652762 rs1167599945	1271	A>S	Autosomal dominant nonsyndromic hearing loss 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs765907794 CA3479717	3	P>L		No	ClinGen ExAC gnomAD
rs1212603939 CA361509014	4	P>A		No	ClinGen TOPMed gnomAD
CA361509012 rs1212603939	4	P>S		No	ClinGen TOPMed gnomAD
rs891040228 CA128436762	7	S>N		No	ClinGen TOPMed
rs1413707800 CA361508935	7	S>R		No	ClinGen TOPMed
rs750068600 CA3479715	10	P>L		No	ClinGen ExAC TOPMed gnomAD
CA128436752 rs750068600	10	P>R		No	ClinGen ExAC TOPMed gnomAD
CA361508803 rs1432073177	13	G>V		No	ClinGen gnomAD
rs1596422064 CA361508779	15	R>Q		No	ClinGen Ensembl
rs993499020 CA128436742	16	D>E		No	ClinGen TOPMed gnomAD
rs1436832097 CA361508751	16	D>G		No	ClinGen gnomAD
CA3479713 rs761061179	20	G>D		No	ClinGen ExAC gnomAD
rs761061179 CA361508666	20	G>V		No	ClinGen ExAC gnomAD
rs1187065983 CA361508655	21	R>Q		No	ClinGen gnomAD
rs1421717512 CA361508661	21	R>W		No	ClinGen gnomAD
CA361508639 rs1474809251	22	S>N		No	ClinGen gnomAD
rs1020818879 CA128436728	23	P>L		No	ClinGen TOPMed
rs1189716868 CA361508563	24	D>E		No	ClinGen gnomAD
rs1189716868 CA361508570	24	D>E		No	ClinGen gnomAD
rs1276900007 CA361508587	24	D>H		No	ClinGen TOPMed
rs760026257 CA361508532	25	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361508556 rs1462912772	25	E>K		No	ClinGen TOPMed
CA3479709 rs774909066	27	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1014287163 CA128436721	27	P>T		No	ClinGen Ensembl
rs771016727 CA3479708	28	S>L		No	ClinGen ExAC gnomAD
CA361508484 rs771016727	28	S>W		No	ClinGen ExAC gnomAD
CA128436694 rs1034109754	30	G>S		No	ClinGen TOPMed gnomAD
CA361508382 rs1417086637	33	G>C		No	ClinGen gnomAD
rs1297873125 CA361508372	34	G>S		No	ClinGen gnomAD
CA361508336 rs1440238404	35	K>R		No	ClinGen gnomAD
CA361547008 rs1437971317	40	T>N		No	ClinGen gnomAD
CA3479687 rs727502964	43	R>L		No	ClinGen ExAC TOPMed gnomAD
CA361546971 rs727502964	43	R>P		No	ClinGen ExAC TOPMed gnomAD
RCV000150410 rs727502964 CA175673	43	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361546973 rs1305661080	43	R>W		No	ClinGen gnomAD
rs762120780 CA3479686	44	L>H		No	ClinGen ExAC gnomAD
CA361546938 rs1346817866	46	A>T		No	ClinGen TOPMed
rs865836876 CA128443960	54	S>G		No	ClinGen TOPMed
CA3479669 rs765404982	57	I>T		No	ClinGen ExAC TOPMed gnomAD
CA128443951 rs954518752	65	N>S		No	ClinGen TOPMed gnomAD
rs1414699859 CA361546603	66	S>F		No	ClinGen TOPMed
CA3479665 rs760505510	68	H>D		No	ClinGen ExAC gnomAD
CA361546570 rs1356506474	69	R>T		No	ClinGen TOPMed
CA3479662 rs745759508	75	Y>C		No	ClinGen ExAC gnomAD
CA3479660 rs770410701	77	D>N		No	ClinGen ExAC gnomAD
CA128443926 rs972893707	78	D>G		No	ClinGen TOPMed
rs777368467 CA3479658	80	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3479655 rs200792727	84	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs765854012 CA3479652	87	V>A		No	ClinGen ExAC gnomAD
rs757339076 CA3479651	94	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1562333417 CA361546167	95	L>H		No	ClinGen Ensembl
CA361546135 rs1437417186	97	E>K		No	ClinGen gnomAD
rs1352182229 CA361543932	112	P>T		No	ClinGen gnomAD
rs773202771 CA3479621	115	E>D		No	ClinGen ExAC gnomAD
CA3479622 rs762848470	115	E>G		No	ClinGen ExAC gnomAD
CA128442652 rs769174848	118	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3479620 rs769174848	118	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1205534090 CA361543765	119	I>V		No	ClinGen TOPMed
rs1394571086 CA361543632	123	E>G		No	ClinGen gnomAD
rs776081634 CA3479618	124	M>V		No	ClinGen ExAC gnomAD
CA361543592 rs1596389538	125	V>M		No	ClinGen Ensembl
rs746184906 CA3479616	126	S>F		No	ClinGen ExAC gnomAD
rs779396364 CA3479615	129	L>F		No	ClinGen ExAC gnomAD
CA128442442 rs866695775	135	G>D		No	ClinGen Ensembl
CA361542362 rs1337954890	138	Q>R		No	ClinGen gnomAD
CA3479600 rs768099536	139	K>R		No	ClinGen ExAC gnomAD
CA361542258 rs1345553272	142	S>C		No	ClinGen TOPMed
rs758148602 CA3479598	143	K>E		No	ClinGen ExAC gnomAD
rs771407456 CA3479597	143	K>R		No	ClinGen ExAC TOPMed gnomAD
CA128442411 rs778059801	145	A>S		No	ClinGen Ensembl
rs1450405811 CA361542163	147	M>V		No	ClinGen TOPMed gnomAD
rs1359846013 CA361542124	148	Y>C		No	ClinGen gnomAD
rs1169744178 CA361542042	151	E>G		No	ClinGen gnomAD
rs778070862 CA3479595	153	R>G		No	ClinGen ExAC gnomAD
rs748655447 CA3479594	153	R>S		No	ClinGen ExAC gnomAD
CA361541948 rs1423145330	155	G>C		No	ClinGen TOPMed gnomAD
rs1415334924 CA361541946	155	G>V		No	ClinGen gnomAD
rs1562330405 CA361541920	156	L>F		No	ClinGen Ensembl
CA3479591 rs755081489	156	L>S		No	ClinGen ExAC TOPMed gnomAD
rs534491046 CA3479590	157	R>G		No	ClinGen ExAC TOPMed gnomAD
CA361541912 rs1247897604	157	R>Q		No	ClinGen TOPMed
CA128442387 rs534491046	157	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1201900712 CA361541886	158	D>E		No	ClinGen gnomAD
rs780270470 CA3479589	158	D>G		No	ClinGen ExAC gnomAD
CA3479588 rs758123613	159	M>T		No	ClinGen ExAC gnomAD
rs750249960 CA3479587	169	R>H		No	ClinGen ExAC gnomAD
rs750249960 CA361541643	169	R>P		No	ClinGen ExAC gnomAD
rs1251709997 CA361541552	171	S>C		No	ClinGen TOPMed
rs1251709997 CA361541543	171	S>F		No	ClinGen TOPMed
rs1470192204 CA361541531	172	L>V		No	ClinGen TOPMed
rs765035834 CA3479586	173	N>H		No	ClinGen ExAC gnomAD
rs757196685 CA3479585	175	N>S		No	ClinGen ExAC gnomAD
CA3479569 rs370495662	180	V>L		No	ClinGen ESP ExAC gnomAD
CA361541183 rs370495662	180	V>M		No	ClinGen ESP ExAC gnomAD
CA361541127 rs1169874713	181	Q>P		No	ClinGen TOPMed
CA3479568 rs746125273	182	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1562330161 CA361541051	184	G>A		No	ClinGen Ensembl
CA361541016 rs1440102285	186	E>K		No	ClinGen gnomAD
CA361541011 rs1440102285	186	E>Q		No	ClinGen gnomAD
rs376465188 CA3479567	187	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458257909 CA361540823	193	D>H		No	ClinGen gnomAD
rs370731986 CA128442279	196	K>Q		No	ClinGen ESP TOPMed
CA361540702 rs763948267	197	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3479564 rs763948267	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs899564067 CA128442275	198	L>F		No	ClinGen TOPMed
rs1220646059 CA361540660	199	H>Y		No	ClinGen gnomAD
rs752282481 CA3479562	200	D>V		No	ClinGen ExAC gnomAD
CA361540577 rs1452015634	201	E>G		No	ClinGen gnomAD
CA3479561 rs767226979	203	E>Q		No	ClinGen ExAC gnomAD
rs1193410497 CA361540481	204	E>G		No	ClinGen gnomAD
CA361540438 rs1489026152	205	T>I		No	ClinGen gnomAD
CA3479532 rs774563903	208	S>N		No	ClinGen ExAC gnomAD
rs1455361577 CA804802426	209	Y>*		No	ClinGen TOPMed
rs1424725542 CA361540026	210	D>G		No	ClinGen TOPMed gnomAD
rs749058990 CA3479530	210	D>N		No	ClinGen ExAC TOPMed gnomAD
CA361540001 rs1440841163	211	S>G		No	ClinGen gnomAD
rs727504973 RCV000156386 CA184733	212	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3479528 rs769781925	212	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361539940 rs1480345277	213	N>D		No	ClinGen gnomAD
CA16618133 rs1064795909 RCV000757154	215	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA361539723 rs1220362809	219	R>C		No	ClinGen gnomAD
CA361539672 rs1562329221	220	C>S		No	ClinGen Ensembl
CA361539639 rs1283541860	221	L>F		No	ClinGen Ensembl
rs1255961566 CA361537453	233	T>N		No	ClinGen TOPMed
rs1255961566 CA361537454	233	T>S		No	ClinGen TOPMed
rs755414258 CA3479497	234	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1252345137 CA361537446	234	M>V		No	ClinGen gnomAD
rs1372320797 CA361537041	246	R>G		No	ClinGen TOPMed
CA128441024 rs370794285	247	A>G		No	ClinGen ESP gnomAD
CA361537012 rs1346475035	247	A>S		No	ClinGen gnomAD
rs370794285 CA128441023	247	A>V		No	ClinGen ESP gnomAD
CA361536880 rs1333199863	250	P>H		No	ClinGen gnomAD
CA361536843 rs1462480294	252	V>I		No	ClinGen TOPMed
rs1399771527 CA361536751	254	N>S		No	ClinGen gnomAD
CA3479491 rs532196989	256	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1160650964 CA361536608	257	I>T		No	ClinGen gnomAD
CA361536262 rs1247081066	267	C>R		No	ClinGen gnomAD
rs1192741843 CA361536250	267	C>Y		No	ClinGen gnomAD
CA3479486 rs771425207	270	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3479487 rs775553976	270	P>S		No	ClinGen ExAC gnomAD
CA3479483 rs756921782	273	E>G		No	ClinGen ExAC TOPMed gnomAD
CA361534381 rs1562326443	275	M>I		No	ClinGen Ensembl
CA361535962 rs1347824121	275	M>T		No	ClinGen gnomAD
rs999583337 CA128440142	283	M>I		No	ClinGen TOPMed
rs1261492479 CA361534044	284	T>S		No	ClinGen TOPMed
rs1596384556 CA361534006	285	E>G		No	ClinGen Ensembl
rs1325994580 CA361533983	286	R>G		No	ClinGen TOPMed
CA3479459 rs780379887	287	A>T		No	ClinGen ExAC gnomAD
CA3479458 rs547044466	288	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1402198970 CA361533810	291	E>Q		No	ClinGen gnomAD
rs745742167 CA3479457	294	R>C		No	ClinGen ExAC gnomAD
CA3479456 rs779131581	294	R>L		No	ClinGen ExAC gnomAD
rs753947283 CA361533672	295	F>C		No	ClinGen ExAC gnomAD
rs753947283 CA3479454	295	F>S		No	ClinGen ExAC gnomAD
rs1283704383 CA361533621	296	Q>R		No	ClinGen TOPMed
CA361533596 rs1472854160	297	P>A		No	ClinGen gnomAD
CA128440121 rs201927388	297	P>L		No	ClinGen gnomAD
CA361533580 rs201927388	297	P>Q		No	ClinGen gnomAD
CA361533418 rs1264274304	303	K>R		No	ClinGen TOPMed
CA3479452 rs752555506	308	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1430953433 CA361533225	309	A>T		No	ClinGen TOPMed
rs1205743370 CA361533214	309	A>V		No	ClinGen gnomAD
rs764694299 CA3479426	312	V>G		No	ClinGen ExAC
rs776485917 CA3479424	318	I>F		No	ClinGen ExAC gnomAD
CA128439945 rs907587761	318	I>M		No	ClinGen TOPMed
CA361532774 rs1214669823	321	L>V		No	ClinGen gnomAD
CA361532694 rs1596384042	324	P>S		No	ClinGen Ensembl
rs376981308 CA3479422	325	A>V		No	ClinGen ESP ExAC gnomAD
rs1303310814 CA361532510	330	F>L		No	ClinGen gnomAD
CA3479418 rs777873912	331	R>*		No	ClinGen ExAC gnomAD
CA361532490 rs1339571940	332	V>I		No	ClinGen gnomAD
CA3479417 rs748386464	334	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1374331735 CA361532438	334	I>V		No	ClinGen TOPMed gnomAD
CA361532339 rs1401413598	337	E>A		No	ClinGen gnomAD
rs374115798 CA3479415	339	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754730261 CA361532258	340	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751381728 CA3479413	340	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3479414 rs754730261	340	R>S		No	ClinGen ExAC TOPMed gnomAD
CA361532168 rs1596383954	344	H>Y		No	ClinGen Ensembl
CA361532122 rs1359843007	345	Q>R		No	ClinGen TOPMed
rs755174598 CA3479396	351	R>*		No	ClinGen ExAC gnomAD
CA3479395 rs201545942	351	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3479394 rs779820289	352	E>G		No	ClinGen ExAC gnomAD
rs753516643 CA128439786	356	E>A		No	ClinGen Ensembl
CA361531650 rs1245184530	357	D>E		No	ClinGen TOPMed
rs1024157604 CA128439781	357	D>H		No	ClinGen TOPMed
rs1184130282 CA361531630	358	M>T		No	ClinGen gnomAD
CA3479391 rs750318437	365	F>L		No	ClinGen ExAC gnomAD
CA361531421 rs1264517616	366	D>H		No	ClinGen gnomAD
CA3479390 rs765089130	368	Q>E		No	ClinGen ExAC gnomAD
rs756750537 CA3479389	369	G>R		No	ClinGen ExAC TOPMed gnomAD
rs760368627 CA3479386	373	S>F		No	ClinGen ExAC gnomAD
CA3479385 rs752460505	374	Y>C		No	ClinGen ExAC gnomAD
CA3479382 rs141629026	376	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3479379 rs776665040	379	R>Q		No	ClinGen ExAC gnomAD
CA3479380 rs762360741	379	R>W		No	ClinGen ExAC gnomAD
rs1456522801 CA361531021	382	D>Y		No	ClinGen gnomAD
CA3479378 rs372873909	384	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200927557 CA3479376	384	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3479377 rs200927557	384	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771834583 CA361530961	385	M>L		No	ClinGen ExAC TOPMed gnomAD
rs771834583 CA3479375	385	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1236323559 CA361530936	386	E>G		No	ClinGen TOPMed gnomAD
rs1453085440 CA361529440	390	F>L		No	ClinGen gnomAD
CA3479355 rs772205627	399	N>H		No	ClinGen ExAC gnomAD
CA361529146 rs1596383024	400	T>I		No	ClinGen Ensembl
rs367592859 CA3479353	401	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367592859 CA3479354	401	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3479352 rs770912928	402	K>R		No	ClinGen ExAC gnomAD
rs551450387 CA3479350	405	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347749897 CA361528960	408	P>L		No	ClinGen gnomAD
rs916593815 CA128439446	410	F>L		No	ClinGen Ensembl
rs774466966 CA128439443	413	I>M		No	ClinGen TOPMed gnomAD
rs1284204308 CA361528866	413	I>V		No	ClinGen gnomAD
rs375904152 CA3479349	416	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371587729 CA3479347	419	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319624525 CA361528680	421	R>*		No	ClinGen TOPMed
CA3479346 rs754559074	421	R>Q		No	ClinGen ExAC gnomAD
CA361528667 rs1401459362	422	N>D		No	ClinGen gnomAD
rs1023086375 CA128439427	422	N>I		No	ClinGen TOPMed
CA3479345 rs367981585	423	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA128439409 rs895429714	424	Y>C		No	ClinGen TOPMed gnomAD
rs1482204967 CA361528607	424	Y>H		No	ClinGen TOPMed
rs1339899658 CA361528354	428	P>H		No	ClinGen TOPMed gnomAD
CA361528305 rs1280109391	430	Y>C		No	ClinGen TOPMed
CA361528272 rs1340149420	431	Y>C		No	ClinGen TOPMed
CA361528238 rs1562324184	432	K>T		No	ClinGen Ensembl
CA361528179 rs1261012970	434	I>T		No	ClinGen TOPMed gnomAD
rs370683492 CA128439186	435	E>K		No	ClinGen ESP TOPMed gnomAD
CA361528171 rs370683492	435	E>Q		No	ClinGen ESP TOPMed gnomAD
rs1596382367 CA361528039	439	S>F		No	ClinGen Ensembl
rs754578524 CA3479328	440	Q>L		No	ClinGen ExAC gnomAD
rs1211997429 CA361527885	444	H>Y		No	ClinGen TOPMed
CA361527859 rs1472189974	445	K>E		No	ClinGen gnomAD
CA3479326 rs779687295	447	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1263533400 CA361527717	450	P>A		No	ClinGen TOPMed
rs1463095601 CA361527712	450	P>R		No	ClinGen gnomAD
CA3479325 rs757579900	452	F>Y		No	ClinGen ExAC gnomAD
rs1198464334 CA361527642	453	K>Q		No	ClinGen gnomAD
CA3479324 rs368435886	453	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361527627 rs368435886	453	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215341919 CA361527618	454	C>G		No	ClinGen TOPMed gnomAD
rs1215341919 CA361527621	454	C>S		No	ClinGen TOPMed gnomAD
rs756545968 CA3479322	455	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3479321 rs767477546	460	E>D		No	ClinGen ExAC gnomAD
rs767477546 CA361527422	460	E>D		No	ClinGen ExAC gnomAD
rs759671442 CA3479320	461	I>T		No	ClinGen ExAC TOPMed gnomAD
CA128439125 rs184854976	464	L>S		No	ClinGen 1000Genomes gnomAD
CA3479319 rs774367321	465	I>T		No	ClinGen ExAC gnomAD
rs1300264058 CA361527295	466	D>N		No	ClinGen TOPMed
rs1399023999 CA361527006	468	M>I		No	ClinGen TOPMed
rs778106662 CA3479306	468	M>L		No	ClinGen ExAC gnomAD
rs1596381822 CA361526941	470	D>G		No	ClinGen Ensembl
rs781722855 CA3479303	470	D>N		No	ClinGen ExAC gnomAD
CA361526916 rs1158577329	471	K>E		No	ClinGen gnomAD
CA361526852 rs1239598744	473	K>E		No	ClinGen Ensembl
CA128438872 rs897850069	474	V>G		No	ClinGen TOPMed gnomAD
rs1477410146 CA361526825	474	V>M		No	ClinGen TOPMed gnomAD
CA361526803 rs193036129	475	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361526643 rs1342839445	479	A>G		No	ClinGen TOPMed
rs547070097 CA3479298	480	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547070097 CA3479299	480	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361526612 rs1257996025	481	A>T		No	ClinGen TOPMed
rs942157701 CA128438863	482	A>V		No	ClinGen TOPMed
rs750732697 CA3479297	483	E>D		No	ClinGen ExAC gnomAD
rs1562323504 CA361526482	485	E>G		No	ClinGen Ensembl
RCV000825325 CA361526408 rs1596381751	487	K>R		No	ClinGen ClinVar Ensembl dbSNP
CA361524614 rs1179118598	489	D>H		No	ClinGen gnomAD
CA128438085 rs1014304479	495	R>Q		No	ClinGen TOPMed
rs1299688627 CA361524306	499	Q>*		No	ClinGen TOPMed
CA3479270 rs753647091	502	M>T		No	ClinGen ExAC gnomAD
CA361524171 rs1384356529	504	K>E		No	ClinGen TOPMed gnomAD
rs760598547 CA3479267	505	M>T		No	ClinGen ExAC gnomAD
rs1459968692 CA361524082	506	E>Q		No	ClinGen TOPMed gnomAD
rs1337027040 CA361524049	507	S>R		No	ClinGen gnomAD
CA361523862 rs1235266143	512	K>N		No	ClinGen TOPMed
CA3479266 rs771508390	512	K>R		No	ClinGen ExAC TOPMed gnomAD
rs759051179 CA3479265	515	D>H		No	ClinGen ExAC TOPMed gnomAD
CA361523720 rs1307570641	517	Q>R		No	ClinGen gnomAD
rs1311312237 CA361523653	520	K>E		No	ClinGen gnomAD
rs1397611238 CA361523649	520	K>R		No	ClinGen gnomAD
CA3479264 rs373896015	522	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3479262 rs369527502	524	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361523579 rs1453865659	524	H>Y		No	ClinGen gnomAD
CA361523513 rs187899184	526	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3479261 rs187899184	526	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361523456 rs1463670582	528	Q>*		No	ClinGen gnomAD
rs1562322405 CA361523435	528	Q>H		No	ClinGen Ensembl
rs1337053378 CA361523387	530	I>S		No	ClinGen TOPMed
CA361523327 rs1446595487	532	T>I		No	ClinGen TOPMed gnomAD
CA3479257 rs758517099	534	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1197194576 CA361523207	536	D>E		No	ClinGen gnomAD
CA361523237 rs377104351	536	D>N		No	ClinGen ESP TOPMed gnomAD
CA128438017 rs377104351	536	D>Y		No	ClinGen ESP TOPMed gnomAD
rs745971519 CA3479256	541	V>M		No	ClinGen ExAC gnomAD
CA361522972 rs1312473068	543	Q>H		No	ClinGen TOPMed
CA361522930 rs1243204186	545	T>I		No	ClinGen gnomAD
CA3479238 rs528268486	550	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361522499 rs1336672141	551	L>P		No	ClinGen gnomAD
CA361522276 rs1264271054	557	D>G		No	ClinGen gnomAD
CA128437493 rs954110746	559	K>N		No	ClinGen TOPMed gnomAD
CA3479233 rs749465365	562	M>I		No	ClinGen ExAC gnomAD
CA361522133 rs1303645126	562	M>V		No	ClinGen TOPMed
CA361522112 rs1160177644	563	A>P		No	ClinGen gnomAD
rs755863519 CA3479231	566	S>F		No	ClinGen ExAC gnomAD
CA361521995 rs752510907	567	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3479230 rs752510907	567	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1246788597 CA361521941	569	A>P		No	ClinGen Ensembl
CA3479228 rs532251881	570	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs886042233 CA10603967 RCV000358511	570	I>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3479227 rs751511483	571	T>A		No	ClinGen ExAC gnomAD
CA361521887 rs1562321607	571	T>I		No	ClinGen Ensembl
rs970629366 CA128437431	572	V>L		No	ClinGen Ensembl
CA361521819 rs372097562	574	P>H		No	ClinGen gnomAD
rs372097562 CA128437429	574	P>L		No	ClinGen gnomAD
rs1374199986 CA361521804	575	S>P		No	ClinGen TOPMed gnomAD
CA3479225 rs762375683	578	S>G		No	ClinGen ExAC TOPMed gnomAD
rs772880549 CA3479224	578	S>I		No	ClinGen ExAC
CA3479223 rs765008414	579	R>C		No	ClinGen ExAC TOPMed gnomAD
CA240726 RCV000724127 RCV000221724 rs182139018	579	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3479222 rs182139018	579	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562321519 CA361521655	580	A>T		No	ClinGen Ensembl
CA361521647 rs1324721107	580	A>V		No	ClinGen gnomAD
CA361521627 rs1457366616	581	P>L		No	ClinGen TOPMed
CA361521623 rs1457366616	581	P>R		No	ClinGen TOPMed
CA3479221 rs772634604	581	P>S		No	ClinGen ExAC gnomAD
rs1392252591 CA361521584	582	V>A		No	ClinGen TOPMed
CA3479220 rs746371106	582	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200973081 CA3479218	585	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749357702 CA3479217	586	P>S		No	ClinGen ExAC TOPMed gnomAD
CA361521435 rs1391046492	587	P>L		No	ClinGen TOPMed
CA3479216 rs778001664	588	L>I		No	ClinGen ExAC gnomAD
rs953769579 CA128437366	589	P>R		No	ClinGen TOPMed gnomAD
CA361521374 rs1243275176	590	G>S		No	ClinGen gnomAD
rs1465790720 CA361521360	591	D>H		No	ClinGen gnomAD
CA361521248 rs1562321356	594	T>I		No	ClinGen Ensembl
RCV000361855 rs374299911 CA3479213	595	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128437363 rs1000640029	595	I>V		No	ClinGen Ensembl
CA361521235 rs1333363652	596	I>V		No	ClinGen TOPMed
rs1202226093 CA361521210	597	P>S		No	ClinGen gnomAD
CA361521138 rs1266407564	599	P>L		No	ClinGen TOPMed
CA3479212 rs372170639	599	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264024166 CA361521092	601	A>P		No	ClinGen gnomAD
CA3479211 rs751447601	601	A>V		No	ClinGen ExAC gnomAD
rs1337551594 CA361521050	602	P>S		No	ClinGen gnomAD
CA3479210 rs779887319	603	G>E		No	ClinGen ExAC
rs1272063782 CA361521007	603	G>R		No	ClinGen gnomAD
CA3479209 rs757880182	606	T>S		No	ClinGen ExAC gnomAD
rs1596379384 CA361520917	607	T>P		No	ClinGen Ensembl
rs749881969 CA3479208	608	P>A		No	ClinGen ExAC TOPMed gnomAD
rs749881969 CA361520883	608	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749881969 CA128437353	608	P>T		No	ClinGen ExAC TOPMed gnomAD
rs764883573 CA3479207	609	P>L		No	ClinGen ExAC gnomAD
rs1327766925 CA361520789	611	P>L		No	ClinGen gnomAD
CA3479206 rs761554818	612	P>A		No	ClinGen ExAC gnomAD
CA361520775 rs1421185830	612	P>L		No	ClinGen gnomAD
CA361520751 rs753600371	613	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3479205 rs753600371	613	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1385183566 CA361520723	614	P>L		No	ClinGen TOPMed gnomAD
rs866989994 CA128437304	615	P>L		No	ClinGen gnomAD
rs767932779 CA3479204	615	P>S		No	ClinGen ExAC gnomAD
CA361520664 rs1275345821	616	P>L		No	ClinGen gnomAD
rs1436359093 CA361520687	616	P>A		No	ClinGen gnomAD
CA361520683 rs1436359093	616	P>S		No	ClinGen gnomAD
rs892261512 CA128437295	617	P>S		No	ClinGen TOPMed gnomAD
rs1312869698 CA361520644	617	P>L		No	ClinGen gnomAD
rs3075570 RCV000728424	618	P>missing		No	ClinVar dbSNP
rs1383273883 CA361520618	618	P>L		No	ClinGen TOPMed gnomAD
rs759820677 CA3479203	618	P>S		No	ClinGen ExAC TOPMed gnomAD
rs3075570 RCV000279070 RCV000421714	619	P>missing		No	ClinVar dbSNP
CA3479197 rs774876990	620	P>H		No	ClinGen ExAC TOPMed gnomAD
CA128437263 rs774876990	620	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297448550 CA361520562	620	P>T		No	ClinGen gnomAD
CA128437260 rs1057384432	621	L>V		No	ClinGen TOPMed
rs1329060473 CA361520446	624	G>D		No	ClinGen TOPMed gnomAD
CA361520474 rs1426472643	624	G>S		No	ClinGen TOPMed
rs1329060473 CA361520445	624	G>V		No	ClinGen TOPMed gnomAD
rs1430649049 CA361520294	630	P>H		No	ClinGen TOPMed
rs1447041627 CA361520298	630	P>S		No	ClinGen gnomAD
CA3479192 rs769926497	631	P>A		No	ClinGen ExAC TOPMed gnomAD
CA361520267 rs1562320882	631	P>H		No	ClinGen Ensembl
CA128437249 rs769926497	631	P>S		No	ClinGen ExAC TOPMed gnomAD
rs370316406 CA128437244	632	S>P		No	ClinGen ESP TOPMed gnomAD
rs1490207695 CA361520160	634	P>L		No	ClinGen gnomAD
CA3479191 rs377451775	634	P>S		No	ClinGen ESP ExAC gnomAD
CA128437229 rs932773207	636	G>D		No	ClinGen TOPMed gnomAD
rs1289606709 CA361520137	636	G>S		No	ClinGen gnomAD
rs1322323729 CA361520095	638	A>G		No	ClinGen gnomAD
CA361520100 rs1225121066	638	A>T		No	ClinGen gnomAD
CA3479190 rs781398463	639	I>F		No	ClinGen ExAC TOPMed gnomAD
rs781398463 CA361520080	639	I>L		No	ClinGen ExAC TOPMed gnomAD
rs781398463 CA361520075	639	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361520042 rs1375206162	640	S>C		No	ClinGen gnomAD
rs1233106855 CA361520019	641	P>S		No	ClinGen TOPMed
CA3479189 rs768458531	643	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3479188 rs746803459	643	P>L		No	ClinGen ExAC gnomAD
CA361519995 rs768458531	643	P>S		No	ClinGen ExAC TOPMed gnomAD
CA361519996 rs768458531	643	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1343242960 CA361519971	644	P>S		No	ClinGen gnomAD
rs1424711678 CA361519865	647	G>V		No	ClinGen gnomAD
CA361519856 rs886060032	648	D>V		No	ClinGen TOPMed gnomAD
CA361519805 rs1158959492	650	T>A		No	ClinGen gnomAD
CA361519722 rs1410529153	652	P>L		No	ClinGen gnomAD
CA361519677 rs1596379013	653	P>L		No	ClinGen Ensembl
CA361519657 rs1183177432	654	P>L		No	ClinGen gnomAD
rs931286798 CA128437185	654	P>S		No	ClinGen TOPMed
rs201827139 CA3479186	655	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201827139 CA361519651	655	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1064794044 RCV000481192	657	L>missing		No	ClinVar dbSNP
rs756837198 CA361519500	660	G>D		No	ClinGen ExAC gnomAD
CA3479183 rs756837198	660	G>V		No	ClinGen ExAC gnomAD
rs753471630 CA3479182	662	G>C		No	ClinGen ExAC gnomAD
CA361519405 rs1268593849	663	I>F		No	ClinGen gnomAD
rs1433537665 CA361519387	663	I>M		No	ClinGen TOPMed
CA361519323 rs1222672240	665	S>L		No	ClinGen gnomAD
rs1343299966 CA361519309	666	P>S		No	ClinGen gnomAD
CA361519129 rs1288796036	672	G>D		No	ClinGen TOPMed gnomAD
rs1288796036 CA361519120	672	G>V		No	ClinGen TOPMed gnomAD
CA361519103 rs1429162380	673	T>A		No	ClinGen TOPMed gnomAD
CA361519081 rs13174988	673	T>I		No	ClinGen TOPMed
rs13174988 CA128437158	673	T>S		No	ClinGen TOPMed
CA361519079 rs1326546832	674	A>T		No	ClinGen TOPMed
CA361519057 rs1596378879	675	I>L		No	ClinGen Ensembl
CA361519019 rs773724339	676	P>L		No	ClinGen ExAC gnomAD
CA3479176 rs773724339	676	P>R		No	ClinGen ExAC gnomAD
CA361519031 rs1160456432	676	P>S		No	ClinGen gnomAD
CA361518974 rs761912885	677	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3479174 rs761912885	677	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA361518976 rs761912885	677	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1184844577 CA361518934	678	P>L		No	ClinGen TOPMed gnomAD
rs1184844577 CA361518951	678	P>R		No	ClinGen TOPMed gnomAD
rs768743097 CA3479172	679	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361518929 rs1455766498	679	P>S		No	ClinGen TOPMed
CA361518851 rs953060204	681	L>M		No	ClinGen TOPMed gnomAD
CA361518802 rs1562320555	682	P>R		No	ClinGen Ensembl
rs1202856125 CA361518781	683	G>E		No	ClinGen gnomAD
rs867307439 CA128437091	683	G>W		No	ClinGen Ensembl
rs1461203802 CA361518657	686	R>G		No	ClinGen TOPMed
rs1596378776 CA361518635	686	R>S		No	ClinGen Ensembl
CA361518616 rs1332396631	687	I>N		No	ClinGen TOPMed
rs1332396631 CA361518615	687	I>T		No	ClinGen TOPMed
rs747299836 CA3479171	687	I>V		No	ClinGen ExAC gnomAD
rs775146972 CA3479170	688	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361518578 rs775146972	688	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1233431834 CA361518538	689	P>L		No	ClinGen gnomAD
CA361518509 rs1292892436	690	P>S		No	ClinGen gnomAD
rs1334098898 CA361518490	691	P>S		No	ClinGen TOPMed
CA361518441 rs1452397026	693	P>L		No	ClinGen gnomAD
CA3479169 rs771963258	693	P>S		No	ClinGen ExAC gnomAD
rs1372717937 CA361518387	696	G>R		No	ClinGen gnomAD
CA3479166 rs756783878	697	S>T		No	ClinGen ExAC gnomAD
CA361518335 rs1390738526	698	A>T		No	ClinGen TOPMed gnomAD
rs199830182 CA3479164	700	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3479161 rs576129553	701	P>A		No	ClinGen ExAC gnomAD
rs576129553 CA3479160	701	P>S		No	ClinGen ExAC gnomAD
rs1229036082 CA361518188	702	P>L		No	ClinGen gnomAD
CA3479156 rs201433617 RCV000219307	703	P>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762356974 CA128437057	703	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3479155 rs762356974	703	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs762356974 CA3479154	703	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1245809874 CA361518150	704	P>L		No	ClinGen gnomAD
rs1381210447 CA361518034	707	L>F		No	ClinGen gnomAD
CA361517932 rs1315355851	711	A>T		No	ClinGen gnomAD
rs986771635 CA128437047	711	A>V		No	ClinGen gnomAD
CA3479151 rs776664827	712	G>E		No	ClinGen ExAC gnomAD
rs1356765386 CA361517845	713	M>I		No	ClinGen TOPMed
rs764305772 CA3479150	713	M>V		No	ClinGen ExAC TOPMed gnomAD
rs760797227 CA3479149	714	P>L		No	ClinGen ExAC TOPMed gnomAD
rs369743620 CA3479148	715	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs771694707 CA3479147	716	P>L		No	ClinGen ExAC gnomAD
rs1252620174 CA361517769	716	P>S		No	ClinGen TOPMed
CA3479146 rs745686900	718	P>L		No	ClinGen ExAC gnomAD
rs770966255 CA3479143	719	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770966255 CA128437019	719	P>R		No	ClinGen ExAC TOPMed gnomAD
rs548134926 CA3479144	719	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361517626 rs373520931	721	P>R		No	ClinGen ESP TOPMed gnomAD
CA361517593 rs1290477298	722	G>A		No	ClinGen gnomAD
CA361517582 rs1219615963	723	G>S		No	ClinGen gnomAD
CA361517567 rs1357981395	724	P>S		No	ClinGen gnomAD
rs1335508568 CA361517494	727	P>L		No	ClinGen gnomAD
CA128437007 rs1032573137	729	P>R		No	ClinGen TOPMed
CA361517416 rs1429687784	731	P>L		No	ClinGen TOPMed
CA3479138 rs780930396	732	F>V		No	ClinGen ExAC gnomAD
CA3479137 rs758713834	732	F>Y		No	ClinGen ExAC gnomAD
rs757761745 CA3479134	735	G>C		No	ClinGen ExAC TOPMed gnomAD
rs757761745 CA361517325	735	G>S		No	ClinGen ExAC TOPMed gnomAD
CA128436981 rs1637814	736	P>T		No	ClinGen Ensembl
CA361517206 rs1346841969	739	P>L		No	ClinGen gnomAD
rs1163719978 CA361517167	741	P>S		No	ClinGen gnomAD
rs1472753124 CA361517096	744	G>E		No	ClinGen gnomAD
rs764025674 CA3479132	744	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1267697203 CA361517032	746	G>D		No	ClinGen gnomAD
rs1258812442 CA361517045	746	G>S		No	ClinGen TOPMed
rs750444590 CA128436953	747	M>V		No	ClinGen TOPMed
CA3479130 rs528398613	748	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3479131 rs760810515	748	P>T		No	ClinGen ExAC TOPMed gnomAD
rs932661800 CA128436949	749	P>A		No	ClinGen TOPMed gnomAD
rs767798101 CA3479129	751	P>A		No	ClinGen ExAC gnomAD
CA361516936 rs759882305	752	P>A		No	ClinGen ExAC gnomAD
rs759882305 CA3479128	752	P>S		No	ClinGen ExAC gnomAD
rs759882305 CA361516941	752	P>T		No	ClinGen ExAC gnomAD
CA361516915 rs1330124707	753	F>S		No	ClinGen gnomAD
rs565706367 CA3479127	754	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3479126 rs770916886	755	F>Y		No	ClinGen ExAC gnomAD
rs1423322662 CA361516832	756	G>A		No	ClinGen gnomAD
CA361516828 rs1332864175	757	V>I		No	ClinGen gnomAD
CA361516731 rs1382690018	761	P>L		No	ClinGen gnomAD
rs1464059712 CA361516743	761	P>S		No	ClinGen TOPMed
rs769148092 CA3479123	766	G>R		No	ClinGen ExAC gnomAD
CA3479122 rs552373013	768	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1246728670 CA361514878	769	P>A		No	ClinGen gnomAD
CA128433465 rs1036249514	773	Y>C		No	ClinGen TOPMed gnomAD
rs13161411 CA128433464	776	E>V		No	ClinGen Ensembl
CA3479120 rs768267621	777	V>L		No	ClinGen ExAC gnomAD
rs369255077 CA3479119	778	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1262786436 CA361514510	780	R>Q		No	ClinGen gnomAD
rs754235853 CA3479116	780	R>W		No	ClinGen ExAC gnomAD
rs778373397 CA128433449	783	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3479115 rs778373397	783	N>H		No	ClinGen ExAC TOPMed gnomAD
CA361514366 rs1347234372	783	N>K		No	ClinGen TOPMed gnomAD
CA128432367 rs916565591	788	V>L		No	ClinGen TOPMed
CA361513781 rs1596376794	789	A>S		No	ClinGen Ensembl
rs1596376794 CA361513783	789	A>T		No	ClinGen Ensembl
rs375471795 CA3479088	790	E>V		No	ClinGen ESP ExAC gnomAD
CA361513739 rs756608855	791	D>E		No	ClinGen ExAC gnomAD
CA361513676 rs1596376782	794	Q>P		No	ClinGen Ensembl
CA3479085 rs781407197	799	T>R		No	ClinGen ExAC gnomAD
rs1371798081 CA361513454	801	V>M		No	ClinGen gnomAD
rs755122519 CA3479084	803	E>G		No	ClinGen ExAC
rs1393763630 CA361513387	803	E>K		No	ClinGen TOPMed
rs756430268 CA3479083	805	R>C		No	ClinGen ExAC gnomAD
CA3479081 rs752824698	805	R>H		No	ClinGen TOPMed
CA3479077 rs147203145	813	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1247069457 CA361512942	816	T>I		No	ClinGen TOPMed
CA361512926 rs1247069457	816	T>N		No	ClinGen TOPMed
CA361512838 rs1181272452	818	T>I		No	ClinGen gnomAD
rs1596376697 CA361512810	820	S>A		No	ClinGen Ensembl
CA3479076 rs201900613	821	A>S		No	ClinGen ExAC gnomAD
rs201900613 CA128432306	821	A>T		No	ClinGen ExAC gnomAD
CA361512781 rs1205947064	821	A>V		No	ClinGen gnomAD
rs1357642481 CA361511738	828	A>T		No	ClinGen gnomAD
CA361588086 rs1293774648	830	K>E		No	ClinGen TOPMed gnomAD
CA361588077 rs1246828535	830	K>N		No	ClinGen gnomAD
CA3479024 rs762735377	831	D>G		No	ClinGen ExAC gnomAD
CA3479023 rs777132588	832	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1210829259 CA361588021	834	G>V		No	ClinGen gnomAD
rs1353062899 CA361588003	836	E>G		No	ClinGen gnomAD
rs769201908 CA128428034	836	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769201908 CA3479022	836	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs761209182 CA3479021	838	K>N		No	ClinGen ExAC gnomAD
CA3479020 rs775867437	840	S>F		No	ClinGen ExAC gnomAD
CA183448 rs200220260 RCV000155769	842	Q>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1274410924 CA361587918	843	K>Q		No	ClinGen gnomAD
CA361587890 rs1231121355	844	K>N		No	ClinGen gnomAD
rs1596343901 CA361587863	846	V>A		No	ClinGen Ensembl
CA3479019 rs745960805	849	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1322283707 CA361587803	851	V>L		No	ClinGen gnomAD
rs1322283707 CA361587807	851	V>M		No	ClinGen gnomAD
rs779095133 CA3479018	853	D>Y		No	ClinGen ExAC gnomAD
rs924077580 CA128427988	854	S>A		No	ClinGen TOPMed
rs991588859 CA128427967	855	K>Q		No	ClinGen TOPMed
CA361587709 rs1170344822	859	N>H		No	ClinGen gnomAD
CA3478994 rs781089562	862	I>F		No	ClinGen ExAC gnomAD
CA128425801 rs150113164	866	S>F		No	ClinGen Ensembl
rs1408895782 CA361586585	868	R>H		No	ClinGen Ensembl
CA361586579 rs1204485610	869	M>L		No	ClinGen gnomAD
rs1340027946 CA361586562	870	P>R		No	ClinGen gnomAD
CA361586555 rs56079950	871	Y>C		No	ClinGen gnomAD
rs56079950 CA128425796	871	Y>S		No	ClinGen gnomAD
CA361586466 rs1596340326	876	N>S		No	ClinGen Ensembl
CA128425770 rs921812676	881	V>M		No	ClinGen TOPMed
rs750058263 CA3478989	882	N>I		No	ClinGen ExAC gnomAD
rs1214856083 CA361586329	884	A>S		No	ClinGen TOPMed
rs1214856083 CA361586334	884	A>T		No	ClinGen TOPMed
CA361586306 rs1424816322	885	V>D		No	ClinGen gnomAD
CA361586272 rs1449855233	888	E>A		No	ClinGen gnomAD
rs868345584 CA128425582	893	N>S		No	ClinGen Ensembl
CA128425568 rs879001033	897	Q>E		No	ClinGen Ensembl
rs562824586 CA3478972	898	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3478970 rs200114505	901	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs778611148 CA3478971	901	P>S		No	ClinGen ExAC gnomAD
rs1435539007 CA361585934	906	M>I		No	ClinGen TOPMed
rs960335098 CA128425525	906	M>T		No	ClinGen Ensembl
rs879072832 CA128425533	906	M>V		No	ClinGen gnomAD
CA361585930 rs1297895732	907	L>F		No	ClinGen TOPMed
rs1471657738 CA361585910	908	S>F		No	ClinGen gnomAD
rs755372400 CA3478967	912	D>G		No	ClinGen ExAC gnomAD
CA128425505 rs367839845	913	E>D		No	ClinGen ESP TOPMed
CA361585753 rs1223524665	918	A>T		No	ClinGen gnomAD
CA3478966 rs746418816	920	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3478965 rs766891698	922	Q>K		No	ClinGen ExAC gnomAD
rs773243948 CA3478963	925	V>M		No	ClinGen ExAC gnomAD
rs1307134378 CA361585611	926	V>L		No	ClinGen gnomAD
CA361585609 rs1307134378	926	V>M		No	ClinGen gnomAD
CA361585468 rs1237215909	931	P>A		No	ClinGen gnomAD
rs1057524293 RCV000432418 CA16604818	932	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA3478948 rs370578225	932	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3478949 rs370578225	932	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA128425274 rs758893826	934	R>L		No	ClinGen ExAC gnomAD
rs758893826 CA3478946	934	R>Q		No	ClinGen ExAC gnomAD
CA3478945 rs750941858	936	R>C		No	ClinGen ExAC gnomAD
CA3478944 rs765235886	936	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1040008297 CA128425251	938	N>S		No	ClinGen TOPMed gnomAD
CA361585314 rs1435307627	941	L>I		No	ClinGen gnomAD
rs1186468839 CA361585271	943	K>T		No	ClinGen gnomAD
CA3478938 rs775424355	949	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs913835174 CA128425229	950	V>M		No	ClinGen gnomAD
CA3478936 rs759485012	951	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361585015 rs1399066974	953	I>V		No	ClinGen TOPMed
rs907756074 CA128425224	958	V>L		No	ClinGen TOPMed
CA3478933 rs748850690	964	C>Y		No	ClinGen ExAC gnomAD
rs1293342147 CA361584666	967	L>F		No	ClinGen TOPMed
RCV001092022 rs2099887774	968	R>missing		No	ClinVar dbSNP
rs777195456 RCV000353082 CA3478932	968	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3478931 rs373654027	968	R>H		No	ClinGen ExAC TOPMed gnomAD
RCV000598609 rs1554201397	970	S>missing		No	ClinVar dbSNP
CA3478930 rs747863627	971	E>G		No	ClinGen ExAC gnomAD
rs1296579213 CA361584553	972	S>N		No	ClinGen TOPMed gnomAD
CA361584473 rs1395726534	975	N>D		No	ClinGen gnomAD
CA361584430 rs1199596888	976	L>H		No	ClinGen TOPMed
rs1415421387 CA361584368	979	I>F		No	ClinGen gnomAD
CA3478929 rs758767237	979	I>M		No	ClinGen ExAC gnomAD
rs1166564935 CA361584340	980	T>I		No	ClinGen gnomAD
CA361584021 rs1421726146	992	R>I		No	ClinGen TOPMed gnomAD
CA361584026 rs1421726146	992	R>K		No	ClinGen TOPMed gnomAD
CA361583975 rs1190382243	994	A>G		No	ClinGen TOPMed
rs1188077682 CA361583889	998	G>A		No	ClinGen gnomAD
CA3478927 rs779499759	1000	N>S		No	ClinGen ExAC gnomAD
rs1251735455 CA361583794	1002	S>T		No	ClinGen gnomAD
CA361583773 rs1203559312	1003	F>C		No	ClinGen gnomAD
rs969163545 CA128425168	1003	F>V		No	ClinGen Ensembl
rs757756780 CA3478926	1004	L>V		No	ClinGen ExAC gnomAD
CA3478925 rs753927669	1005	C>G		No	ClinGen ExAC gnomAD
rs1244487491 CA361583738	1005	C>S		No	ClinGen gnomAD
CA3478907 rs777847342	1007	L>V		No	ClinGen ExAC gnomAD
CA361583595 rs1461242879	1008	R>*		No	ClinGen gnomAD
rs1006618137 CA128425093	1008	R>L		No	ClinGen TOPMed gnomAD
rs1006618137 CA361583586	1008	R>P		No	ClinGen TOPMed gnomAD
CA361583578 rs1006618137	1008	R>Q		No	ClinGen TOPMed gnomAD
CA361583527 rs1456440722	1011	K>R		No	ClinGen gnomAD
rs1385953408 CA361583497	1013	T>A		No	ClinGen gnomAD
rs752924382 CA3478905	1013	T>I		No	ClinGen ExAC gnomAD
rs767871722 CA3478904	1016	K>E		No	ClinGen ExAC gnomAD
CA3478903 RCV000613351 rs373275414	1017	M>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs773028163 CA3478901	1022	F>V		No	ClinGen ExAC gnomAD
rs535140857 CA3478900	1023	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs566236870 CA128425018	1026	L>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1462848253 CA361583236	1029	N>D		No	ClinGen TOPMed gnomAD
CA361583221 rs1255358652	1030	D>Y		No	ClinGen gnomAD
CA361583203 rs1440077892	1031	Y>C		No	ClinGen TOPMed
rs776170489 CA3478898	1032	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1337840259 CA361583135	1035	L>F		No	ClinGen gnomAD
rs376328260 CA3478897	1037	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3478896 rs376328260	1037	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361582258 rs749733899	1038	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3478895 rs749733899	1038	P>S		No	ClinGen ExAC TOPMed gnomAD
rs2099887720 RCV001328493	1039	D>missing		No	ClinVar dbSNP
rs1596339203 CA361582252	1039	D>N		No	ClinGen Ensembl
rs1400939983 CA361582229	1040	E>K		No	ClinGen gnomAD
CA361582200 rs1486271676	1042	A>S		No	ClinGen TOPMed
rs756215904 CA3478893	1043	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1194610858 CA361582125	1045	E>*		No	ClinGen TOPMed
rs1407744925 CA361582111	1045	E>V		No	ClinGen TOPMed
CA3478891 rs781462838	1047	A>V		No	ClinGen ExAC gnomAD
rs755247462 CA3478890	1049	R>Q		No	ClinGen ExAC gnomAD
CA361581774 rs1234600427	1052	A>S		No	ClinGen gnomAD
CA361581771 rs1360966087	1052	A>V		No	ClinGen gnomAD
rs1353240389 CA361581715	1055	L>F		No	ClinGen gnomAD
CA361581709 rs1331356644	1056	Q>*		No	ClinGen gnomAD
CA361581714 rs1331356644	1056	Q>K		No	ClinGen gnomAD
rs778744526 CA3478843	1060	D>E		No	ClinGen ExAC gnomAD
CA361581587 rs1162981056	1060	D>G		No	ClinGen gnomAD
rs367619451 CA128424562	1060	D>H		No	ClinGen ESP TOPMed gnomAD
rs367619451 CA361581605	1060	D>N		No	ClinGen ESP TOPMed gnomAD
rs757169374 CA3478842	1063	K>R		No	ClinGen ExAC TOPMed gnomAD
CA128424528 rs35749881	1064	K>T		No	ClinGen Ensembl
CA361581489 rs1181510109	1065	Q>*		No	ClinGen TOPMed gnomAD
CA361581490 rs1181510109	1065	Q>K		No	ClinGen TOPMed gnomAD
rs1204995910 CA361581400	1067	S>F		No	ClinGen gnomAD
rs760138089 CA3478840	1070	E>A		No	ClinGen ExAC gnomAD
rs760138089 CA3478839	1070	E>G		No	ClinGen ExAC gnomAD
CA3478838 rs752348913	1071	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3478837 rs538492176	1071	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361581302 rs538492176	1071	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3478836 rs759275094	1072	D>N		No	ClinGen ExAC gnomAD
CA128424475 rs1012562287	1074	Q>E		No	ClinGen Ensembl
CA361581125 rs143763573	1076	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376593325 RCV000726655 CA175655 RCV000150400	1077	P>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA361581112 rs1443399410	1077	P>S		No	ClinGen gnomAD
rs1233208237 CA361580981	1080	T>K		No	ClinGen TOPMed
rs1301019763 CA361580850	1084	D>E		No	ClinGen TOPMed
CA361580839 rs1345966018	1085	K>M		No	ClinGen TOPMed
CA3478831 rs768807156	1087	V>A		No	ClinGen ExAC gnomAD
CA3478830 rs747036564	1088	E>K		No	ClinGen ExAC gnomAD
RCV000584874 RCV001375058 rs1235751512	1090	M>missing		No	ClinVar dbSNP
rs1398981627 CA361580675	1090	M>V		No	ClinGen gnomAD
CA361580232 rs369559394	1092	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347816910 CA361580183	1094	V>M		No	ClinGen gnomAD
CA128423962 rs997606547	1098	Q>L		No	ClinGen Ensembl
rs1278764113 CA361579252	1100	Q>P		No	ClinGen gnomAD
CA3478806 rs772204178	1101	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA361579197 rs1295292136	1102	N>H		No	ClinGen gnomAD
CA3478803 rs770668053	1105	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1596337513 CA361579080	1106	M>I		No	ClinGen Ensembl
rs749063652 CA3478802	1108	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA128423952 rs371161306	1111	M>L		No	ClinGen ESP TOPMed
rs893998939 CA128423948	1111	M>T		No	ClinGen Ensembl
rs371161306 CA128423950	1111	M>V		No	ClinGen ESP TOPMed
rs1388818673 CA361578976	1112	E>Q		No	ClinGen TOPMed
rs576123582 CA128423947	1113	T>I		No	ClinGen TOPMed
rs1283993189 CA361578937	1114	L>V		No	ClinGen TOPMed
rs1314577433 CA361578912	1115	Y>S		No	ClinGen TOPMed gnomAD
CA361578890 rs1435242819	1117	E>Q		No	ClinGen gnomAD
CA361578861 rs1168016735	1119	G>S		No	ClinGen gnomAD
rs1180804710 CA361578762	1122	F>L		No	ClinGen TOPMed gnomAD
rs928380301 CA128423940	1125	D>E		No	ClinGen TOPMed
CA361578678 rs1490710264	1125	D>G		No	ClinGen gnomAD
CA361578661 rs1562282300	1126	P>S		No	ClinGen Ensembl
CA361578622 rs1484365124	1128	K>Q		No	ClinGen gnomAD
CA361578386 rs1486283650	1133	E>A		No	ClinGen gnomAD
rs751207442 CA3478796	1136	M>I		No	ClinGen ExAC TOPMed gnomAD
rs751207442 CA361578291	1136	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3478794 rs758163133	1139	H>N		No	ClinGen ExAC gnomAD
rs1296519819 CA361578234	1139	H>R		No	ClinGen gnomAD
rs1232760149 CA361578190	1140	N>S		No	ClinGen gnomAD
rs200419320 CA128423914	1142	R>Q		No	ClinGen TOPMed gnomAD
CA361578157 rs1353583066	1142	R>W		No	ClinGen gnomAD
CA361578103 RCV000731534 rs1562282214	1144	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs1596337377 CA361578071	1146	L>S		No	ClinGen Ensembl
CA3478782 rs747970514	1147	Q>*		No	ClinGen ExAC gnomAD
CA361577885 rs1392930156	1148	A>G		No	ClinGen gnomAD
CA361577828 rs1562282074	1150	K>R		No	ClinGen Ensembl
rs1273382049 CA361577690	1154	K>E		No	ClinGen TOPMed
rs779775889 CA361577625	1155	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3478778 rs779775889	1155	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369467830 CA3478779	1155	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3478775 rs764296073	1156	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3478776 rs750111294	1156	R>W		No	ClinGen ExAC gnomAD
CA3478774 rs756529055	1157	E>G		No	ClinGen ExAC gnomAD
rs747116749 CA128423866	1162	M>I		No	ClinGen gnomAD
CA361577432 rs1398958325	1163	R>K		No	ClinGen gnomAD
rs753100456 CA3478773 RCV001328492	1164	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA3478772 rs768050138	1164	R>Q		No	ClinGen ExAC TOPMed
rs1596337162 CA361577362	1165	A>E		No	ClinGen Ensembl
CA361577308 rs1596337156	1166	K>N		No	ClinGen Ensembl
CA128423863 rs983256503	1169	K>R		No	ClinGen Ensembl
rs751637635 CA3478770	1172	A>T		No	ClinGen ExAC gnomAD
rs766505218 CA3478769	1173	E>G		No	ClinGen ExAC gnomAD
rs769436448 CA3478767	1176	R>P		No	ClinGen ExAC gnomAD
rs769436448 CA3478766	1176	R>Q		No	ClinGen ExAC gnomAD
rs763106782 CA3478768 RCV000222991	1176	R>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs776331448 CA3478764	1178	E>K		No	ClinGen ExAC gnomAD
rs374304870 CA3478763	1180	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA361576883 rs374304870	1180	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159794136 CA361576837	1182	K>T		No	ClinGen gnomAD
rs1355259448 CA361576817	1184	E>Q		No	ClinGen TOPMed
rs771710298 CA3478760	1185	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3478762 rs747000164	1185	Q>R		No	ClinGen ExAC gnomAD
rs370443000 CA3478759	1187	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778647295 CA3478758	1187	I>R		No	ClinGen ExAC TOPMed
rs778647295 CA361576767	1187	I>T		No	ClinGen ExAC TOPMed
CA3478756 rs756913052	1189	M>T		No	ClinGen ExAC gnomAD
CA361576713 rs1446631593	1192	E>Q		No	ClinGen gnomAD
rs1002153995 CA128422989	1194	D>N		No	ClinGen TOPMed
CA3478736 rs781479917	1195	E>K		No	ClinGen ExAC gnomAD
rs1354335913 CA361575617	1197	G>A		No	ClinGen gnomAD
rs1354335913 CA361575642 RCV000991923	1197	G>D		No	ClinGen ClinVar dbSNP gnomAD
rs1064795207 RCV000485261 CA16618131	1205	A>V		No	ClinGen ClinVar Ensembl dbSNP
RCV001003903 rs1596335566	1210	A>missing		No	ClinVar dbSNP
CA361575278 rs1263494333	1210	A>V		No	ClinGen gnomAD
rs978882548 CA128422980	1213	R>Q		No	ClinGen gnomAD
CA361575141 rs1562280214	1215	K>Q		No	ClinGen Ensembl
CA361575112 rs1363727450	1216	R>K		No	ClinGen TOPMed
rs373270436 CA3478732	1219	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3478731 rs750059700	1219	R>H		No	ClinGen ExAC gnomAD
CA361574992 rs1185864756	1221	A>P		No	ClinGen gnomAD
CA361572914 rs1298460924	1222	N>K		No	ClinGen gnomAD
CA361572930 rs1423948383	1222	N>S		No	ClinGen TOPMed
rs376832359 CA3478680	1224	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754761532 CA3478679	1225	A>S		No	ClinGen ExAC gnomAD
CA361572792 rs1353463076	1226	G>R		No	ClinGen TOPMed gnomAD
rs1466328561 CA361572770	1227	C>R		No	ClinGen gnomAD
rs766204786 CA3478677	1229	V>D		No	ClinGen ExAC gnomAD
CA3478675 rs749920378	1231	S>F		No	ClinGen ExAC gnomAD
CA3478676 rs749920378	1231	S>Y		No	ClinGen ExAC gnomAD
CA3478673 rs761387295	1235	S>L		No	ClinGen ExAC TOPMed gnomAD
rs772429379 CA3478671	1236	E>Q		No	ClinGen ExAC gnomAD
rs1449303982 CA361572555	1237	L>M		No	ClinGen gnomAD
rs1274036786 CA361572352	1243	M>T		No	ClinGen TOPMed
CA3478669 rs774815702	1244	A>V		No	ClinGen ExAC gnomAD
rs749871871 CA3478667	1246	V>I		No	ClinGen ExAC
CA3478666 rs777943998	1247	P>R		No	ClinGen ExAC TOPMed gnomAD
rs770002473 CA3478665	1248	A>V		No	ClinGen ExAC gnomAD
CA361572214 rs1320235178	1250	V>L		No	ClinGen TOPMed gnomAD
rs1320235178 CA361572217	1250	V>M		No	ClinGen TOPMed gnomAD
CA3478664 rs748341361	1253	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361572080 rs1353522696	1254	S>N		No	ClinGen gnomAD
rs546064158 CA3478663	1256	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3478661 rs374910187	1258	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751282493 CA3478662	1258	P>T		No	ClinGen ExAC gnomAD
CA361571886 rs1448594054	1260	I>M		No	ClinGen gnomAD
rs1216878059 CA361571903	1260	I>V		No	ClinGen TOPMed
rs1163619347 CA361571717	1268	V>A		No	ClinGen gnomAD
rs1031662096 CA128420579	1268	V>F		No	ClinGen TOPMed gnomAD
CA3478660 rs758272814	1270	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3478659 rs371664456	1270	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3478657 rs761332072	1272	S>G		No	ClinGen ExAC gnomAD
rs1443421024 CA361571656	1272	S>N		No	ClinGen gnomAD
rs753432442 CA3478656	1273	S>L		No	ClinGen ExAC gnomAD

2 associated diseases with O60610

[MIM: 124900]: Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:26912466, ECO:0000269|PubMed:27808407, ECO:0000269|PubMed:9360932}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616632]: Seizures, cortical blindness, and microcephaly syndrome (SCBMS)

A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26463574}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:26912466, ECO:0000269|PubMed:27808407, ECO:0000269|PubMed:9360932}. Note=The disease is caused by variants affecting the gene represented in this entry.
A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26463574}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O60610

Type	Name	Position	InterPro Accession
domain	Formin, FH3 domain	274 - 466	IPR010472
domain	Formin, GTPase-binding domain	84 - 268	IPR010473
domain	Diaphanous autoregulatory (DAD) domain	1194 - 1222	IPR014767
domain	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	84 - 449	IPR014768
domain	Formin, FH2 domain	769 - 1214	IPR015425

Functions

		Description
EC Number
Subcellular Localization	Cell membrane Cell projection, ruffle membrane Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Cytoplasm Nucleus	Membrane ruffles, especially at the tip of ruffles, of motile cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 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.
ficolin-1-rich granule membrane	The lipid bilayer surrounding a ficolin-1-rich granule.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

5 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
RNA binding	Binding to an RNA molecule or a portion thereof.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
small GTPase binding	Binding to a small monomeric GTPase.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

11 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.
cellular response to histamine	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 histamine stimulus. Histamine, the biogenic amine 2-(1H-imidazol-4-yl)ethanamine, is involved in local immune responses as well as regulating physiological function in the gut and acting as a neurotransmitter.
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.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
protein localization to microtubule	A process in which a protein is transported to, or maintained at, a microtubule.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
regulation of microtubule-based process	Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton.
regulation of release of sequestered calcium ion into cytosol	Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

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
Q9NSV4	DIAPH3	Protein diaphanous homolog 3	Homo sapiens (Human)	SS
O60879	DIAPH2	Protein diaphanous homolog 2	Homo sapiens (Human)	SS
Q9Z207	Diaph3	Protein diaphanous homolog 3	Mus musculus (Mouse)	SS
O70566	Diaph2	Protein diaphanous homolog 2	Mus musculus (Mouse)	SS
O08808	Diaph1	Protein diaphanous homolog 1	Mus musculus (Mouse)	EV
F1LVW7	Diaph3	Protein diaphanous homolog 3	Rattus norvegicus (Rat)	SS
F1M775	Diaph1	Protein diaphanous homolog 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MEPPGGSLGP	GRGTRDKKKG	RSPDELPSAG	GDGGKSKKFT	LKRLMADELE	RFTSMRIKKE
70	80	90	100	110	120
KEKPNSAHRN	SSASYGDDPT	AQSLQDVSDE	QVLVLFEQML	LDMNLNEEKQ	QPLREKDIII
130	140	150	160	170	180
KREMVSQYLY	TSKAGMSQKE	SSKSAMMYIQ	ELRSGLRDMP	LLSCLESLRV	SLNNNPVSWV
190	200	210	220	230	240
QTFGAEGLAS	LLDILKRLHD	EKEETAGSYD	SRNKHEIIRC	LKAFMNNKFG	IKTMLETEEG
250	260	270	280	290	300
ILLLVRAMDP	AVPNMMIDAA	KLLSALCILP	QPEDMNERVL	EAMTERAEMD	EVERFQPLLD
310	320	330	340	350	360
GLKSGTTIAL	KVGCLQLINA	LITPAEELDF	RVHIRSELMR	LGLHQVLQDL	REIENEDMRV
370	380	390	400	410	420
QLNVFDEQGE	EDSYDLKGRL	DDIRMEMDDF	NEVFQILLNT	VKDSKAEPHF	LSILQHLLLV
430	440	450	460	470	480
RNDYEARPQY	YKLIEECISQ	IVLHKNGADP	DFKCRHLQIE	IEGLIDQMID	KTKVEKSEAK
490	500	510	520	530	540
AAELEKKLDS	ELTARHELQV	EMKKMESDFE	QKLQDLQGEK	DALHSEKQQI	ATEKQDLEAE
550	560	570	580	590	600
VSQLTGEVAK	LTKELEDAKK	EMASLSAAAI	TVPPSVPSRA	PVPPAPPLPG	DSGTIIPPPP
610	620	630	640	650	660
APGDSTTPPP	PPPPPPPPPP	LPGGVCISSP	PSLPGGTAIS	PPPPLSGDAT	IPPPPPLPEG
670	680	690	700	710	720
VGIPSPSSLP	GGTAIPPPPP	LPGSARIPPP	PPPLPGSAGI	PPPPPPLPGE	AGMPPPPPPL
730	740	750	760	770	780
PGGPGIPPPP	PFPGGPGIPP	PPPGMGMPPP	PPFGFGVPAA	PVLPFGLTPK	KLYKPEVQLR
790	800	810	820	830	840
RPNWSKLVAE	DLSQDCFWTK	VKEDRFENNE	LFAKLTLTFS	AQTKTSKAKK	DQEGGEEKKS
850	860	870	880	890	900
VQKKKVKELK	VLDSKTAQNL	SIFLGSFRMP	YQEIKNVILE	VNEAVLTESM	IQNLIKQMPE
910	920	930	940	950	960
PEQLKMLSEL	KDEYDDLAES	EQFGVVMGTV	PRLRPRLNAI	LFKLQFSEQV	ENIKPEIVSV
970	980	990	1000	1010	1020
TAACEELRKS	ESFSNLLEIT	LLVGNYMNAG	SRNAGAFGFN	ISFLCKLRDT	KSTDQKMTLL
1030	1040	1050	1060	1070	1080
HFLAELCEND	YPDVLKFPDE	LAHVEKASRV	SAENLQKNLD	QMKKQISDVE	RDVQNFPAAT
1090	1100	1110	1120	1130	1140
DEKDKFVEKM	TSFVKDAQEQ	YNKLRMMHSN	METLYKELGE	YFLFDPKKLS	VEEFFMDLHN
1150	1160	1170	1180	1190	1200
FRNMFLQAVK	ENQKRRETEE	KMRRAKLAKE	KAEKERLEKQ	QKREQLIDMN	AEGDETGVMD
1210	1220	1230	1240	1250	1260
SLLEALQSGA	AFRRKRGPRQ	ANRKAGCAVT	SLLASELTKD	DAMAAVPAKV	SKNSETFPTI
1270
LEEAKELVGR	AS