AiPD: Autoinhibited Protein Database

P51178

Gene name	PLCD1
Protein name	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
Names	Phosphoinositide phospholipase C-delta-1, Phospholipase C-III, PLC-III, Phospholipase C-delta-1, PLC-delta-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5333
EC number	3.1.4.11: Phosphoric diester hydrolases
Protein Class	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN (PTHR10336)

Descriptions

PLCD1 functions the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), which is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel. The disordered X/Y linker is capable of autoinhibition by hindering productive binding of PLC-δ1 to membranes and thereby restricting access of PtdIns(4,5)P2 to the active site. The active site of a PLC isozyme toward phospholipid membranes should force the negatively charged X/Y linker away from the active site, therein relieving autoinhibition of the enzyme.

Autoinhibitory domains (AIDs)

Target domain	316-656 (TIM barrel)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

444-487 (X/Y linker)

Target domain

316-656 (TIM barrel)

Relief mechanism

Partner binding (Binding of heterotrimeric G proteins and Ras-like GTPases)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Hicks SN et al. (2008) "General and versatile autoinhibition of PLC isozymes", Molecular cell, 31, 383-94

Autoinhibited structure

Activated structure

1 structures for P51178

Entry ID	Method	Resolution	Chain	Position	Source
AF-P51178-F1	Predicted				AlphaFoldDB

638 variants for P51178

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs397514471 CA129057 RCV000023166	188	C>R	Leukonychia totalis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2313333 RCV001090106 rs752156828	211	R>W	Primary degenerative dementia of the Alzheimer type, presenile onset [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000023163 rs397514470 CA129051	416	R>*	Leukonychia totalis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA129054 rs375683615 RCV000023165	553	A>T	Leukonychia totalis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA352125633 rs1469449502	2	D>A		No	ClinGen TOPMed
rs1469449502 CA352125632	2	D>G		No	ClinGen TOPMed
rs1214238428 CA352125613	3	S>L		No	ClinGen TOPMed
rs1575360672 CA352125551	7	F>S		No	ClinGen Ensembl
rs1393794913 CA352125543	8	L>M		No	ClinGen TOPMed gnomAD
rs756863226 CA352125533	9	T>P		No	ClinGen ExAC TOPMed gnomAD
CA2313576 rs756863226	9	T>S		No	ClinGen ExAC TOPMed gnomAD
CA352125496 rs1463134711	11	H>Y		No	ClinGen TOPMed
CA352125468 rs1435695758	12	G>C		No	ClinGen gnomAD
rs1293284327 CA352123200	14	Q>*		No	ClinGen gnomAD
CA2313485 rs751832142	15	D>G		No	ClinGen ExAC gnomAD
CA2313486 rs755115985	15	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1379636871 CA352123152	16	D>E		No	ClinGen TOPMed
CA352123164 rs1440787072	16	D>N		No	ClinGen gnomAD
CA72871457 rs1031466319	17	E>G		No	ClinGen TOPMed
rs1000883362 CA72871454	18	D>V		No	ClinGen Ensembl
CA72871451 rs148796522	20	Q>*		No	ClinGen ESP TOPMed gnomAD
rs780261200 CA2313484	20	Q>R		No	ClinGen ExAC gnomAD
rs1333386693 CA352123062	21	A>T		No	ClinGen TOPMed gnomAD
CA2313483 rs367628808	21	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258077913 CA352122978	25	G>V		No	ClinGen TOPMed
CA352122965 rs1361799753	26	S>N		No	ClinGen gnomAD
CA2313479 rs753275222	27	Q>*		No	ClinGen ExAC gnomAD
rs1575355225 CA352122880	31	V>G		No	ClinGen Ensembl
CA72871442 rs986592197	31	V>M		No	ClinGen TOPMed
CA2313477 rs760193411	32	K>R		No	ClinGen ExAC gnomAD
CA72871437 rs772879535	33	S>C		No	ClinGen TOPMed gnomAD
rs772879535 CA72871439	33	S>Y		No	ClinGen TOPMed gnomAD
CA352122845 rs1273082668	34	S>R		No	ClinGen gnomAD
CA352122837 rs1210905183	34	S>T		No	ClinGen gnomAD
CA72871410 rs930111730	38	R>K		No	ClinGen TOPMed
CA2313473 COSM446428 COSM1134193 rs774417743	40	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM187101 CA352122773 rs1377962337	40	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs749269772 CA2313471	44	L>F		No	ClinGen ExAC gnomAD
rs768830954 CA2313469	49	K>Q		No	ClinGen ExAC gnomAD
rs780392725 CA2313467	50	T>I		No	ClinGen ExAC
rs1437367323 CA352122596	55	S>F		No	ClinGen TOPMed
rs374157848 CA2313465	56	R>C		No	ClinGen ESP ExAC gnomAD
CA72871386 rs949528021	56	R>H		No	ClinGen TOPMed gnomAD
CA352122595 rs374157848	56	R>S		No	ClinGen ESP ExAC gnomAD
rs757717124 CA2313463	59	M>I		No	ClinGen ExAC gnomAD
CA352122577 rs1381743951	59	M>L		No	ClinGen TOPMed gnomAD
CA352122576 rs1381743951	59	M>V		No	ClinGen TOPMed gnomAD
rs142059541 CA2313461	60	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313462 rs563968194 COSM354779 COSM1137018	60	R>W	lung kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1559376732 CA352122566	61	T>A		No	ClinGen Ensembl
CA352122555 rs1200372259	62	P>L		No	ClinGen gnomAD
rs1260336412 CA352122543	64	S>F		No	ClinGen gnomAD
CA352122546 rs1453771394	64	S>T		No	ClinGen gnomAD
CA72869594 rs1005029860	67	F>S		No	ClinGen TOPMed gnomAD
rs1337585849 CA352122310	68	S>T		No	ClinGen gnomAD
rs772219589 CA352122272	69	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2313448 rs746116371	70	E>K		No	ClinGen ExAC gnomAD
CA2313446 rs369220656	71	D>E		No	ClinGen ESP ExAC gnomAD
CA2313447 rs779195063	71	D>G		No	ClinGen ExAC gnomAD
CA352122186 rs1375677417	75	V>L		No	ClinGen TOPMed gnomAD
CA352122191 rs1375677417	75	V>M		No	ClinGen TOPMed gnomAD
CA352122179 rs1335830144	76	R>*		No	ClinGen gnomAD
rs749725295 CA2313445	76	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778410272 CA2313444	77	M>T		No	ClinGen ExAC gnomAD
CA2313443 rs755564175	80	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2313442 rs141932732 RCV000896229	80	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA72869575 rs567665316	81	T>M		No	ClinGen gnomAD
CA2313440 rs546272647	83	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352122075 rs546272647	83	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352122055 rs1436321559	85	E>K		No	ClinGen gnomAD
CA2313438 rs373376695	88	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313437 COSM1644898 rs373376695 COSM1644899	88	A>T	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA72869561 rs898187247	88	A>V		No	ClinGen gnomAD
rs1232426703 CA352121957	89	R>C		No	ClinGen TOPMed gnomAD
rs773011878 CA2313436	89	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352121955 rs773011878	89	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352121950 rs773011878	89	R>P		No	ClinGen ExAC TOPMed gnomAD
CA352121936 rs1439521336	90	D>G		No	ClinGen gnomAD
CA352121923 rs1353566698	91	V>M		No	ClinGen gnomAD
CA2313433 rs775504369	93	E>K		No	ClinGen ExAC gnomAD
CA352121890 rs775504369	93	E>Q		No	ClinGen ExAC gnomAD
CA2313432 rs772158117	95	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372740772 CA2313431	95	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183966969 CA352121786	98	S>F		No	ClinGen gnomAD
CA2313430 rs562194207	99	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA352121767 rs562194207	99	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1232577819 CA352121758	100	V>I		No	ClinGen gnomAD
rs771279394 CA2313429	102	K>R		No	ClinGen ExAC gnomAD
CA352121706 rs1322292478	103	D>V		No	ClinGen TOPMed gnomAD
CA2313427 rs778012055	105	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2313426 rs756576128	105	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352121640 rs1309619904	106	N>K		No	ClinGen gnomAD
rs1324668645 CA352121554	110	L>V		No	ClinGen gnomAD
CA72869495 rs868105495	112	A>T		No	ClinGen TOPMed gnomAD
CA2313422 rs751254293	113	P>L		No	ClinGen ExAC gnomAD
rs766195147 CA2313421	114	S>L		No	ClinGen ExAC TOPMed gnomAD
rs766195147 CA352121485	114	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1441803640 CA352121469	115	P>L		No	ClinGen gnomAD
CA352121471 rs1441803640	115	P>R		No	ClinGen gnomAD
rs1227939668 CA352121483	115	P>S		No	ClinGen TOPMed
rs1309332303 CA352121445	117	D>V		No	ClinGen TOPMed
rs147566070 CA72869491	117	D>Y		No	ClinGen ESP TOPMed
rs576674144 CA2313420	118	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193093196 CA352121412	120	H>N		No	ClinGen TOPMed gnomAD
CA352121350 rs1488734625	122	V>L		No	ClinGen gnomAD
rs1488734625 CA352121353	122	V>M		No	ClinGen gnomAD
CA352121321 rs1575352661	123	L>P		No	ClinGen Ensembl
rs753818869 CA2313416	126	H>R		No	ClinGen ExAC TOPMed gnomAD
rs767551640 CA2313415	127	K>R		No	ClinGen ExAC gnomAD
CA352121217 rs1345297724	128	I>V		No	ClinGen gnomAD
CA2313414 rs780165931	130	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1559375174 CA352121068	134	S>Y		No	ClinGen Ensembl
CA352121062 rs376372449	135	M>L		No	ClinGen ESP TOPMed gnomAD
rs1450253019 CA352121039	135	M>T		No	ClinGen gnomAD
CA72869454 rs376372449	135	M>V		No	ClinGen ESP TOPMed gnomAD
CA2313412 rs771125181	136	D>G		No	ClinGen ExAC gnomAD
CA72869452 rs958724036	136	D>N		No	ClinGen TOPMed
rs763089667 CA2313411	138	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769702346 CA2313410	138	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1299230051 CA352120946	139	Q>E		No	ClinGen TOPMed gnomAD
CA352120932 rs1421685889	140	K>*		No	ClinGen gnomAD
rs748658452 CA2313408	142	Q>*		No	ClinGen ExAC gnomAD
CA352120863 rs1427143997	143	H>Y		No	ClinGen gnomAD
CA352119602 rs1559373060	144	W>*		No	ClinGen Ensembl
rs1366946607 CA352119590	144	W>C		No	ClinGen TOPMed
rs1279459783 CA352119579	145	I>S		No	ClinGen gnomAD
CA2313389 rs769222180	146	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs139480616 CA2313388	150	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs780533634 CA72867123	150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780533634 CA2313387	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA352119428 rs771527177	152	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2313386 rs771527177	152	A>S		No	ClinGen ExAC TOPMed gnomAD
CA352119430 rs771527177	152	A>T		No	ClinGen ExAC TOPMed gnomAD
rs745498529 CA2313385	152	A>V		No	ClinGen ExAC TOPMed gnomAD
CA352119390 rs1166190349	154	K>E		No	ClinGen Ensembl
CA352119337 rs1465225792	156	K>Q		No	ClinGen gnomAD
CA2313383 rs757059595	158	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2313382 rs753570569	158	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1209666376 CA352119226	159	K>E		No	ClinGen TOPMed
rs1185343117 CA352119187	159	K>N		No	ClinGen gnomAD
CA352119175 rs1459828278	160	M>T		No	ClinGen gnomAD
rs185051874 CA72867095	161	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425130843 CA352119017	166	Q>*		No	ClinGen gnomAD
rs981368759 CA72867089	167	N>H		No	ClinGen Ensembl
rs1177462854 CA352118937	169	L>M		No	ClinGen gnomAD
CA2313378 rs141991999	170	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA352118893 rs1174747198	171	E>G		No	ClinGen TOPMed
rs766451116 CA2313377	171	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs750645847 CA352118805	176	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2313375 rs750645847	176	V>G		No	ClinGen ExAC TOPMed gnomAD
CA352118813 rs1333339663	176	V>M		No	ClinGen gnomAD
COSM187098 rs1559372969 CA352118802	177	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs777099565 CA2313372	178	D>G		No	ClinGen ExAC TOPMed gnomAD
rs201618784 CA2313373	178	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764579316 CA2313371	179	S>N		No	ClinGen ExAC gnomAD
CA2313370 rs775897920	180	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2313369 rs775897920	180	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs374756302 CA72867067	182	R>Q		No	ClinGen TOPMed
rs1438543202 CA352118687	182	R>W		No	ClinGen gnomAD
CA2313368 rs771603558	184	I>T		No	ClinGen ExAC TOPMed
rs1227535346 CA352118570	186	R>S		No	ClinGen TOPMed
rs371024210 CA2313366	186	R>W		No	ClinGen ESP ExAC gnomAD
rs772916492 CA2313347	188	C>F		No	ClinGen ExAC gnomAD
CA352118436 rs1377534737	189	D>H		No	ClinGen gnomAD
rs769564960 CA352118419	190	H>P		No	ClinGen ExAC TOPMed gnomAD
CA2313346 rs769564960	190	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1453864166 CA352118420	190	H>Y		No	ClinGen gnomAD
rs747841445 CA2313345	192	Q>K		No	ClinGen ExAC gnomAD
rs1393058765 CA352118388	192	Q>R		No	ClinGen TOPMed gnomAD
rs370500334 CA72866941	193	T>I		No	ClinGen ESP gnomAD
rs1047015250 CA72866937	194	D>G		No	ClinGen TOPMed gnomAD
CA72866935 rs371469499	195	S>A		No	ClinGen TOPMed
CA2313344 rs373295401	196	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313343 rs754834750	197	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2313340 COSM1422660 COSM1422661 rs200571252	199	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200571252 CA2313341	199	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313339 rs144289415	200	E>K		No	ClinGen ESP ExAC gnomAD
rs376449831 CA2313337	202	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs908976600 CA72866907	202	E>K		No	ClinGen TOPMed gnomAD
CA2313336 rs752935246	203	A>V		No	ClinGen ExAC gnomAD
CA2313335 rs767954004	204	F>V		No	ClinGen ExAC gnomAD
CA352118239 rs1413574039	206	K>R		No	ClinGen gnomAD
rs937426977 CA72866899	209	T>N		No	ClinGen Ensembl
rs759911075 CA352118179	210	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs759911075 CA2313334	210	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs765870286 CA352118164	211	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765870286 CA2313332	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1193394212 CA352118129	213	E>D		No	ClinGen gnomAD
CA352118119 rs1575348591	215	D>N		No	ClinGen Ensembl
CA352118109 rs1371115112	215	D>V		No	ClinGen TOPMed
rs772723497 CA2313330	216	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769371840 CA2313328	216	R>H		No	ClinGen ExAC
rs116413867 CA2313327	217	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1575348571 CA352118088	217	T>P		No	ClinGen Ensembl
rs116413867 CA352118086	217	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352118087 rs1575348571	217	T>S		No	ClinGen Ensembl
CA2313324 rs746893580	219	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780203029 CA2313323	219	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756251636 CA2313319	220	E>D		No	ClinGen ExAC TOPMed gnomAD
rs138222328 CA2313321	220	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA352117977 rs533759608	222	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313318 rs781388779	222	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2313317 rs781388779	222	A>T		No	ClinGen ExAC TOPMed gnomAD
rs533759608 CA2313316	222	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214266308 CA352117907	226	E>*		No	ClinGen gnomAD
rs373433997 CA2313311	229	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180486213 CA352117840	230	V>A		No	ClinGen gnomAD
rs1180486213 CA352117844	230	V>G		No	ClinGen gnomAD
CA352117848 rs1559372711	230	V>M		No	ClinGen Ensembl
CA2313309 rs61755441	231	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776383159 CA2313308	232	Q>L		No	ClinGen ExAC gnomAD
rs760580540 CA2313306	235	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2313304 rs772070183	237	L>R		No	ClinGen ExAC gnomAD
CA352117721 rs1285639578	239	H>Q		No	ClinGen gnomAD
CA2313301 rs769966321	242	R>G		No	ClinGen ExAC TOPMed gnomAD
CA352117669 rs372005528	242	R>L		No	ClinGen ExAC TOPMed gnomAD
rs372005528 CA2313300	242	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1670062 rs769966321 CA2313302 COSM1670061	242	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1450637411 CA352117651	243	E>V		No	ClinGen TOPMed
rs781534778 CA2313299	244	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2313298 rs755168912	244	E>D		No	ClinGen ExAC gnomAD
CA352117568 rs1163114863	245	A>S		No	ClinGen gnomAD
CA352117576 rs1163114863	245	A>T		No	ClinGen gnomAD
rs747305532 CA2313297	245	A>V		No	ClinGen ExAC gnomAD
rs758851072 CA2313295	246	A>T		No	ClinGen ExAC gnomAD
rs756854829 CA2313293	248	P>S		No	ClinGen ExAC gnomAD
rs756854829 CA2313292	248	P>T		No	ClinGen ExAC gnomAD
rs372208980 CA72864668	249	A>G		No	ClinGen ExAC TOPMed gnomAD
COSM3408625 CA2313291 rs372208980 COSM3408624	249	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2313289 rs760252471	250	L>P		No	ClinGen ExAC gnomAD
rs1204738912 CA352116564	253	S>F		No	ClinGen TOPMed
CA2313288 rs775387415	254	L>F		No	ClinGen ExAC TOPMed gnomAD
rs757283793 CA2313287	255	I>N		No	ClinGen ExAC TOPMed gnomAD
rs757283793 CA2313286	255	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2313284 rs149760431	257	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs933135 VAR_046560 CA2313283	257	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352116510 rs149760431	257	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313281 rs776577454	259	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352116436 rs1436419088	260	P>L		No	ClinGen gnomAD
rs553113964 CA2313279	261	S>R		No	ClinGen ExAC gnomAD
rs780372563 CA2313278	262	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352116372 rs1379978596	263	T>S		No	ClinGen gnomAD
rs1423988874 CA352116208	265	K>R		No	ClinGen gnomAD
rs200321901 RCV000895872 CA2313248	266	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs764151594 CA2313245	267	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs147186786 CA72864267	268	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147186786 CA2313244	268	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352116141 rs1181905966	268	R>W		No	ClinGen TOPMed gnomAD
rs1235854690 CA352116087	270	M>I		No	ClinGen gnomAD
rs775557325 CA2313243	271	T>N		No	ClinGen ExAC gnomAD
CA2313242 rs772219717	272	K>E		No	ClinGen ExAC gnomAD
rs759712830 CA352116040	273	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2313240 rs774731580	274	G>S		No	ClinGen ExAC TOPMed gnomAD
rs749772943 CA352115998	276	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1396847580 CA352115990	276	L>H		No	ClinGen gnomAD
CA2313238 rs749772943	276	L>I		No	ClinGen ExAC TOPMed gnomAD
rs769416145 CA2313237	277	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2313236 rs769416145	277	M>T		No	ClinGen ExAC TOPMed gnomAD
CA352115871 rs1042615562	281	S>*		No	ClinGen TOPMed gnomAD
rs1042615562 CA72864238	281	S>L		No	ClinGen TOPMed gnomAD
rs1042615562 CA352115872	281	S>W		No	ClinGen TOPMed gnomAD
rs531907199 CA2313231	284	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150106099 CA2313229	286	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765096918 CA2313227	287	F>C		No	ClinGen ExAC TOPMed gnomAD
CA2313228 rs747618447	287	F>V		No	ClinGen ExAC gnomAD
CA352115690 rs1211887385	288	S>N		No	ClinGen gnomAD
rs1197898815 CA352115615	291	H>R		No	ClinGen gnomAD
CA2313226 rs761747360	292	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2313225 rs752737739	292	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2313224 RCV000965627 rs78861435	293	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352115604 rs78861435	293	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2313223 rs529324964	293	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367622329 CA2313222	294	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183671599 CA352115537	297	D>E		No	ClinGen TOPMed
CA2313220 rs9837637 RCV000966855	299	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA72864187 rs912112979	300	Q>H		No	ClinGen TOPMed gnomAD
CA2313219 rs370581237	301	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352115469 rs1326552473	302	L>V		No	ClinGen TOPMed
CA352115428 rs1398394701	304	H>R		No	ClinGen TOPMed
rs748686665 CA2313217	305	Y>*		No	ClinGen ExAC gnomAD
rs1426109185 CA352115411	306	L>M		No	ClinGen gnomAD
CA352115384 rs1575347620	307	V>G		No	ClinGen Ensembl
rs776256692 CA2313216	307	V>L		No	ClinGen ExAC gnomAD
CA2313215 rs768321024	309	S>F		No	ClinGen ExAC gnomAD
CA352115335 rs1380725129	311	H>R		No	ClinGen gnomAD
CA2313213 rs779627334	313	T>I		No	ClinGen ExAC gnomAD
rs745579619 CA2313211	315	L>Q		No	ClinGen ExAC gnomAD
CA2313210 rs778714147	319	Q>*		No	ClinGen ExAC gnomAD
rs1215955655 CA352115202	319	Q>H		No	ClinGen gnomAD
rs760393774 CA2313208	322	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2313205 rs751793539	324	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2313204 rs766455909	324	S>N		No	ClinGen ExAC gnomAD
CA352115059 rs1337923922	326	T>A		No	ClinGen gnomAD
rs763266542 CA2313203	328	A>T		No	ClinGen ExAC gnomAD
rs772884467 CA72864157	330	I>S		No	ClinGen Ensembl
CA2313202 rs773661938	330	I>V		No	ClinGen ExAC
CA352114939 rs1340615883	331	R>Q		No	ClinGen TOPMed
CA352114874 rs1227423783	332	A>T		No	ClinGen TOPMed
CA352114770 rs1575347412	336	G>A		No	ClinGen Ensembl
CA352114765 rs1475857600	337	C>G		No	ClinGen gnomAD
CA352114757 rs1575347404	337	C>Y		No	ClinGen Ensembl
rs749024979 CA2313175	338	R>*		No	ClinGen ExAC TOPMed gnomAD
rs749024979 CA2313174	338	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2313173 rs769569382	338	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769569382 CA2313172	338	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779964808 CA2313170	339	C>G		No	ClinGen ExAC gnomAD
CA2313171 rs779964808	339	C>S		No	ClinGen ExAC gnomAD
rs893706087 CA72864055	342	L>R		No	ClinGen TOPMed
rs1575347380 CA352114647	344	C>Y		No	ClinGen Ensembl
CA72864052 rs371718392	346	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375595010 CA2313168	347	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559371939 CA352114572	348	P>T		No	ClinGen Ensembl
CA72864022 rs956092319	349	N>S		No	ClinGen Ensembl
CA352114535 rs1255695564	350	Q>*		No	ClinGen gnomAD
CA352114530 rs1215011616	350	Q>R		No	ClinGen gnomAD
CA352114454 rs1480656929	355	Y>C		No	ClinGen TOPMed
rs1340998579 CA352114443	356	H>Y		No	ClinGen gnomAD
CA2313163 rs761069395	357	G>S		No	ClinGen ExAC gnomAD
rs753289346 CA2313162	358	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA72864017 rs769283380	358	Y>H		No	ClinGen gnomAD
CA352114412 rs1160507373	359	T>A		No	ClinGen TOPMed
rs766935716 CA2313160	361	T>I		No	ClinGen ExAC gnomAD
rs1385831942 CA352114382	362	S>A		No	ClinGen TOPMed
CA2313159 rs759106253	366	F>L		No	ClinGen ExAC gnomAD
CA2313157 rs368285979	368	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA352114308 rs1347898318	369	V>M		No	ClinGen TOPMed
CA352114298 rs1421891498	370	L>F		No	ClinGen gnomAD
CA2313156 rs762625740	370	L>P		No	ClinGen ExAC gnomAD
CA2313154 rs772860752	371	R>T		No	ClinGen ExAC gnomAD
CA72863999 rs1039058597	374	R>Q		No	ClinGen Ensembl
CA2313152 rs748029796	375	D>G		No	ClinGen ExAC gnomAD
rs1439286741 CA352114240	376	Y>*		No	ClinGen gnomAD
rs746731901 CA2313150	377	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2313137 rs201532796	380	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764926963 CA2313135	382	P>L		No	ClinGen ExAC TOPMed gnomAD
CA72863958 rs966462112	383	Y>C		No	ClinGen TOPMed gnomAD
CA352114187 rs966462112	383	Y>S		No	ClinGen TOPMed gnomAD
CA2313133 rs776292702	384	P>R		No	ClinGen ExAC TOPMed gnomAD
CA352114178 rs1559371767	385	V>I		No	ClinGen Ensembl
CA352114162 rs1376235230	386	I>N		No	ClinGen gnomAD
CA72863930 rs756433090	390	E>V		No	ClinGen Ensembl
CA352114109 rs1346364407	391	N>I		No	ClinGen gnomAD
CA352114102 rs1575347092	392	H>Y		No	ClinGen Ensembl
rs1418131977 CA352114092	393	C>R		No	ClinGen TOPMed gnomAD
rs371063312 CA72863924	393	C>S		No	ClinGen ESP TOPMed
CA2313127 rs771178523	396	E>K		No	ClinGen ExAC gnomAD
CA2313125 rs778118292	398	Q>E		No	ClinGen ExAC gnomAD
CA2313124 rs150791261	399	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2313123 rs148282341	399	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2313122 rs149467855	400	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs752099937 CA2313120	401	M>T		No	ClinGen ExAC
rs765868232 CA2313119	402	A>P		No	ClinGen ExAC TOPMed gnomAD
CA72863901 rs1045705934	402	A>V		No	ClinGen TOPMed gnomAD
rs137913999 CA72863894	403	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA2313117 rs749914407	403	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352113956 rs1212480155	406	H>D		No	ClinGen gnomAD
CA2313116 rs140647901	406	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA352113953 rs140647901	406	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3669140 rs1285587647 COSM3669139 CA352113944	407	A>D	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1285587647 CA352113941	407	A>V		No	ClinGen TOPMed gnomAD
rs761398859 CA2313115	411	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776435867 CA2313114	412	M>R		No	ClinGen ExAC TOPMed gnomAD
rs776435867 CA352113859	412	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2313113 rs374649877	416	R>Q		No	ClinGen ESP ExAC gnomAD
CA2313112 rs200255245	417	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1048309568 CA72863882	417	P>S		No	ClinGen TOPMed
CA72863865 rs978582865	419	D>G		No	ClinGen Ensembl
rs1017740486 CA72863860	422	T>A		No	ClinGen TOPMed
CA2313110 rs749335449	423	N>H		No	ClinGen ExAC gnomAD
rs773171067 CA2313109	424	S>I		No	ClinGen ExAC gnomAD
rs773171067 CA352113614	424	S>N		No	ClinGen ExAC gnomAD
rs1236416059 CA352113572	426	P>S		No	ClinGen gnomAD
rs1203513506 CA352113549	427	S>F		No	ClinGen gnomAD
rs1203513506 CA352113552	427	S>Y		No	ClinGen gnomAD
CA352113380 rs1364647264	432	K>R		No	ClinGen gnomAD
rs528173833 CA352113362	433	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528173833 CA2313089	433	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352113341 rs1575346823	434	K>*		No	ClinGen Ensembl
rs1253476597 CA352113308	436	L>R		No	ClinGen gnomAD
CA352113292 rs1209508830	438	K>E		No	ClinGen TOPMed
CA2313088 rs376209120	438	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA352113252 rs1180240964	439	G>A		No	ClinGen gnomAD
rs1038283519 CA72863766	442	L>F		No	ClinGen gnomAD
rs1038283519 CA352113204	442	L>I		No	ClinGen gnomAD
CA2313085 rs768879220	443	G>E		No	ClinGen ExAC gnomAD
CA2313086 rs776894329 COSM302934	443	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776894329 CA352113186 COSM302934	443	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352113184 rs776894329	443	G>W		No	ClinGen ExAC TOPMed gnomAD
rs780423817 CA2313083	445	L>F		No	ClinGen ExAC TOPMed gnomAD
CA72863747 rs949792583	447	P>L		No	ClinGen Ensembl
CA352113037 rs1559371438	448	P>H		No	ClinGen Ensembl
CA352113044 rs1283977200	448	P>S		No	ClinGen gnomAD
rs778453139 CA2313080	451	E>*		No	ClinGen ExAC TOPMed gnomAD
rs201479724 CA352112950	453	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2313078 rs201479724	453	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141555869 CA2313077	455	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs755836164 CA2313076	456	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352112898 rs1358000562	456	A>V		No	ClinGen gnomAD
rs144744014 CA2313075	458	V>L		No	ClinGen ESP ExAC gnomAD
rs144744014 CA72863727	458	V>M		No	ClinGen ESP ExAC gnomAD
CA2313074 rs530006178	459	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs75495843 CA2313073	460	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375010877 CA352112733	463	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA352112722 rs375010877	463	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA72863722 rs964562274	466	A>T		No	ClinGen gnomAD
CA2313069 rs371581009	470	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768822251 CA352112491	471	E>D		No	ClinGen ExAC gnomAD
CA352112480 rs1218916115	472	A>E		No	ClinGen TOPMed
CA352112487 rs1204696674	472	A>T		No	ClinGen gnomAD
CA2313065 rs115555466 COSM187096	476	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2313066 rs115555466	476	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545143851 CA2313064	476	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216536934 CA352112366	478	Q>H		No	ClinGen TOPMed
CA2313062 rs202219212	481	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA352112242 rs1487562178	482	K>R		No	ClinGen TOPMed
CA72863579 rs137893579	486	L>F		No	ClinGen ESP
rs1319079054 CA352111993	487	R>K		No	ClinGen TOPMed
CA352111975 rs1218361670	488	L>I		No	ClinGen TOPMed
CA2313031 rs750397130	488	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776508561 CA352111928	490	Q>*		No	ClinGen TOPMed gnomAD
rs776508561 CA72863563	490	Q>E		No	ClinGen TOPMed gnomAD
CA72863559 rs368725014	491	E>Q		No	ClinGen ESP TOPMed
rs764151714 CA2313030	492	L>F		No	ClinGen ExAC gnomAD
CA352111698 rs1195303435	499	C>*		No	ClinGen TOPMed
rs573596122 CA2313028	499	C>S		No	ClinGen ExAC TOPMed gnomAD
CA352111679 rs1195958816	500	K>N		No	ClinGen gnomAD
CA2313027 rs752839362	501	S>I		No	ClinGen ExAC TOPMed gnomAD
rs767571817 CA2313026	501	S>R		No	ClinGen ExAC TOPMed gnomAD
CA352111638 rs1346281110	503	H>Q		No	ClinGen gnomAD
CA2313025 rs759838479	503	H>Y		No	ClinGen ExAC gnomAD
rs1382667637 CA352111631	504	F>S		No	ClinGen gnomAD
rs1382667637 CA352111632	504	F>Y		No	ClinGen gnomAD
CA72863537 rs987263793	505	G>W		No	ClinGen TOPMed gnomAD
rs1173358905 CA352111607	506	G>C		No	ClinGen TOPMed
CA2313024 rs766900159	508	S>A		No	ClinGen ExAC TOPMed gnomAD
CA352111569 rs1412800521	508	S>F		No	ClinGen TOPMed
rs766900159 CA352111579	508	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2313023 rs766900159	508	S>T		No	ClinGen ExAC TOPMed gnomAD
CA352111557 rs1334283217	509	S>N		No	ClinGen gnomAD
rs539188366 CA2313022	510	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773925275 CA2313021	511	G>S		No	ClinGen ExAC gnomAD
CA2313019 rs747543553	512	T>I		No	ClinGen ExAC TOPMed gnomAD
rs747543553 CA2313020	512	T>N		No	ClinGen ExAC TOPMed gnomAD
rs746720554 CA352111477	513	P>H		No	ClinGen ExAC TOPMed gnomAD
rs746720554 CA2313016	513	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768144466 CA2313017	513	P>S		No	ClinGen ExAC gnomAD
rs771917408 CA2313014	514	G>R		No	ClinGen ExAC gnomAD
rs141618224 CA2313013	518	Y>C		No	ClinGen ESP ExAC TOPMed
rs1232076207 CA352111365	518	Y>H		No	ClinGen gnomAD
CA72863491 rs149202703	520	M>I		No	ClinGen ESP TOPMed gnomAD
rs963436170 CA72863483	525	E>Q		No	ClinGen Ensembl
rs752683436 CA2313010	527	R>C		No	ClinGen ExAC gnomAD
CA2313009 COSM1044076 COSM1593644 rs781358862	527	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201094715 CA2313008	530	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201094715 CA352111155	530	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2313007 rs751848637	530	R>Q		No	ClinGen ExAC gnomAD
rs763471279 CA2313005	533	Q>*		No	ClinGen ExAC gnomAD
rs371877779 CA2313003	536	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs371877779 CA2313002	536	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs141516535 CA2312976	538	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs141516535 CA2312975	538	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575345958 CA352110345	540	V>A		No	ClinGen Ensembl
CA2312974 rs773260934	541	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769634850 CA2312973	541	R>H		No	ClinGen ExAC TOPMed gnomAD
CA72863206 rs929798121	542	H>R		No	ClinGen TOPMed gnomAD
rs146435554 CA2312970	543	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370264895 CA2312971	543	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746217837 CA2312968	544	V>M		No	ClinGen ExAC TOPMed gnomAD
CA352110316 rs1360693090	545	G>E		No	ClinGen gnomAD
rs754164543 CA2312966	546	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA352110306 rs1427582443	547	L>Q		No	ClinGen gnomAD
rs1296323524 CA352110292	549	R>T		No	ClinGen Ensembl
rs756613323 CA2312964	551	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA2312963 rs752157350	552	P>L		No	ClinGen ExAC gnomAD
rs1461993811 CA352110238	557	T>R		No	ClinGen gnomAD
CA2312960 rs148664466	560	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA352110210 rs1399030522	561	N>K		No	ClinGen TOPMed
CA352110209 rs542780003	562	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542780003 CA2312958	562	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352110202 rs1230786598	563	S>G		No	ClinGen gnomAD
rs748144839 CA2312956	565	V>A		No	ClinGen ExAC TOPMed gnomAD
CA72863159 rs777977789	565	V>M		No	ClinGen TOPMed
rs1310460402 CA352110177	566	E>D		No	ClinGen TOPMed
rs62240055 CA72863156	567	M>I		No	ClinGen Ensembl
CA352110161 rs1309081326	568	W>*		No	ClinGen TOPMed
rs375791112 CA2312955	569	N>D		No	ClinGen ESP ExAC gnomAD
CA352110141 rs1166395965	571	G>V		No	ClinGen TOPMed gnomAD
rs1381014064 CA352110137	572	C>Y		No	ClinGen gnomAD
rs115366708 CA2312953	573	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1007266827 CA72863135	575	V>M		No	ClinGen TOPMed gnomAD
rs1489417081 CA352110084	578	N>S		No	ClinGen gnomAD
CA72862928 rs917921060	580	Q>*		No	ClinGen TOPMed gnomAD
CA72862924 rs201680750	582	P>S		No	ClinGen 1000Genomes
CA2312933 rs774328407	583	G>W		No	ClinGen ExAC
CA2312932 rs771137339	585	E>K		No	ClinGen ExAC
CA2312931 rs749523027	586	M>L		No	ClinGen ExAC gnomAD
CA352109998 rs1363813380	587	D>Y		No	ClinGen gnomAD
CA352109985 rs1221281998	588	V>A		No	ClinGen TOPMed gnomAD
rs374428162 CA2312930	588	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559370495 CA352109979	589	Y>H		No	ClinGen Ensembl
CA2312928 rs1050869	591	G>A		No	ClinGen ExAC gnomAD
rs1050869 CA72862911	591	G>D		No	ClinGen ExAC gnomAD
rs1303222875 CA352109946	591	G>S		No	ClinGen gnomAD
rs781623633 CA2312927	592	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1287560527 CA352109935	592	R>H		No	ClinGen gnomAD
CA72862910 rs935610473	594	Q>R		No	ClinGen TOPMed
CA2312925 rs369003040	597	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs979689901 CA72862904	599	C>R		No	ClinGen TOPMed
rs779475969 CA2312924	600	G>E		No	ClinGen ExAC TOPMed gnomAD
rs376384426 CA2312922	602	V>M		No	ClinGen ESP ExAC gnomAD
rs985884370 CA72862882	603	L>P		No	ClinGen Ensembl
CA2312921 rs765110651	604	K>Q		No	ClinGen ExAC gnomAD
rs1416216072 CA352109786	605	P>L		No	ClinGen TOPMed
COSM284072 rs377720403 CA2312919	606	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA352109773 rs1269751612	606	A>V		No	ClinGen gnomAD
CA2312918 rs139380872	609	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312917 rs139380872	609	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs146357368 CA2312915	609	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA72862863 rs770711562	610	D>E		No	ClinGen Ensembl
rs115653853 CA2312912	612	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352109664 rs115653853	612	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773368128 CA2312913	612	N>S		No	ClinGen ExAC TOPMed gnomAD
rs961240295 CA72862840	613	G>S		No	ClinGen TOPMed gnomAD
rs150434289 CA72862839	614	T>I		No	ClinGen ESP gnomAD
CA352109549 rs199736349	616	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769126654 CA2312909	617	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2312908 rs747506884	618	R>C		No	ClinGen ExAC gnomAD
rs779608157 CA2312907	618	R>H		No	ClinGen ExAC TOPMed
CA2312904 rs139406465	619	A>P		No	ClinGen ESP ExAC gnomAD
CA2312905 rs139406465	619	A>T		No	ClinGen ESP ExAC gnomAD
rs756998737 CA2312903	622	Q>*		No	ClinGen ExAC gnomAD
rs1016663596 CA72862829	624	P>L		No	ClinGen TOPMed
CA72862828 rs887621587	625	W>R		No	ClinGen TOPMed
CA2312901 rs764031363	626	W>*		No	ClinGen ExAC
CA352109324 rs1181688920	627	A>S		No	ClinGen gnomAD
rs372093444 CA2312899	628	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312900 rs760631515	628	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762886954 CA2312897	630	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766472434 CA2312898	630	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352109284 rs1250267597	631	L>F		No	ClinGen gnomAD
rs773349864 CA2312896	632	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2312894 rs182863227	632	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765407275 CA2312895	632	N>S		No	ClinGen ExAC gnomAD
rs776947264 CA2312893	633	I>V		No	ClinGen ExAC gnomAD
CA72862740 rs374629231 COSM3427547 COSM3427546	637	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA2312874 rs760881217	638	G>E		No	ClinGen ExAC gnomAD
CA2312873 rs775952647	642	P>S		No	ClinGen ExAC gnomAD
rs1182392974 CA352108813	646	K>R		No	ClinGen gnomAD
CA72862716 rs962050440	647	N>K		No	ClinGen TOPMed gnomAD
rs182803730 CA2312872	647	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746438526 CA2312871 COSM1670057 COSM1670058	648	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs773968511 CA2312870	649	N>S		No	ClinGen ExAC gnomAD
CA2312868 rs201309428	650	S>A		No	ClinGen ESP TOPMed gnomAD
CA2312866 rs748935892	651	I>T		No	ClinGen ExAC gnomAD
CA2312867 rs770633023	651	I>V		No	ClinGen ExAC gnomAD
rs992723441 CA72862689	652	V>L		No	ClinGen TOPMed gnomAD
CA2312865 rs777514455	654	P>A		No	ClinGen ExAC gnomAD
CA2312864 rs755798381	654	P>L		No	ClinGen ExAC gnomAD
rs747860027 CA2312863	655	K>Q		No	ClinGen ExAC gnomAD
CA352108585 rs1301361537	656	V>M		No	ClinGen gnomAD
rs78426951 CA72862669	663	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78426951 CA2312858	663	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78426951 CA2312859	663	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753919171 CA2312857	664	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2312856 rs764181631	665	R>Q		No	ClinGen ExAC gnomAD
CA72862668 rs1016693249	665	R>W		No	ClinGen TOPMed gnomAD
rs760972267 CA2312855	667	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752980022 CA2312854	670	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2312853 rs139342994	670	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312852 rs760117251	671	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1163786866 CA352108218	672	T>A		No	ClinGen TOPMed
CA352108195 rs1575344702	673	A>V		No	ClinGen Ensembl
CA352108036 rs1559370113	680	F>L		No	ClinGen Ensembl
CA352108028 rs1313040127	681	N>S		No	ClinGen TOPMed gnomAD
rs1480330747 CA352107983	685	D>N		No	ClinGen TOPMed
rs202132647 CA2312838	686	T>M		No	ClinGen ExAC TOPMed gnomAD
rs777926520 CA2312835	689	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2312836 rs753031784	689	A>T		No	ClinGen ExAC gnomAD
CA2312834 rs777926520	689	A>V		No	ClinGen ExAC TOPMed gnomAD
CA352107901 rs1353468991	691	E>A		No	ClinGen TOPMed
rs1302093361 CA352107902	691	E>K		No	ClinGen gnomAD
CA352107894 rs1299105240	692	V>I		No	ClinGen gnomAD
CA352107883 rs1360603774	693	V>I		No	ClinGen TOPMed gnomAD
CA2312830 rs772577105	696	D>H		No	ClinGen ExAC gnomAD
rs1402744236 CA352107844	697	L>F		No	ClinGen TOPMed
CA2312828 rs761355914	698	A>T		No	ClinGen ExAC gnomAD
CA352107829 rs1241652991	699	L>I		No	ClinGen TOPMed gnomAD
rs201646348 CA352107818	700	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2312825 rs146742095	700	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs201646348 CA2312826	700	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2312822 rs745844815	701	R>C		No	ClinGen ExAC gnomAD
CA2312821 COSM3380547 COSM3380548 rs777711868	701	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2312823 rs745844815	701	R>S		No	ClinGen ExAC gnomAD
rs865956097 CA72862518	704	V>A		No	ClinGen Ensembl
rs752732794 CA2312819	706	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1210777769 CA352107746	707	Y>C		No	ClinGen TOPMed
CA352107720 rs1396446053	710	S>T		No	ClinGen gnomAD
rs1381082224 CA352107706	711	S>Y		No	ClinGen gnomAD
CA352107702 rs1435734980	712	K>Q		No	ClinGen gnomAD
rs985108155 CA72862515	714	D>E		No	ClinGen TOPMed gnomAD
rs370572901 CA2312817	714	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs761431812 CA2312816	715	F>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312815 rs769611330	716	I>V		No	ClinGen ExAC TOPMed gnomAD
CA72862507 rs911446270	717	G>D		No	ClinGen TOPMed
rs1049990399 CA352107634	718	Q>*		No	ClinGen gnomAD
rs1049990399 CA72862503	718	Q>K		No	ClinGen gnomAD
rs1420933687 CA352107627	719	S>G		No	ClinGen gnomAD
rs766902036 CA2312814	719	S>N		No	ClinGen ExAC TOPMed gnomAD
CA352107616 rs1575344360	720	T>P		No	ClinGen Ensembl
CA2312809 rs750994560	721	I>T		No	ClinGen ExAC TOPMed gnomAD
rs758946297 CA2312810	721	I>V		No	ClinGen ExAC TOPMed gnomAD
CA72862476 rs922790160	722	P>S		No	ClinGen TOPMed
CA352107577 rs1575344333	724	N>T		No	ClinGen Ensembl
CA2312808 rs373932932	727	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142526143 CA2312806	728	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312778 rs759309615	730	Y>C		No	ClinGen ExAC gnomAD
CA352107478 rs759309615	730	Y>S		No	ClinGen ExAC gnomAD
CA2312776 rs142785779	731	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2312775 rs749237791	731	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352107457 rs1246055310	732	H>L		No	ClinGen TOPMed gnomAD
rs144784976 CA2312774	732	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2312773 rs768927708	733	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2312772 rs757077721	734	H>Q		No	ClinGen ExAC gnomAD
rs1455866080 CA352107441	734	H>R		No	ClinGen gnomAD
CA2312771 rs780354735	736	M>I		No	ClinGen ExAC gnomAD
CA2312770 rs758576267	737	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1473660103 CA352107397	738	K>E		No	ClinGen TOPMed
rs779193444 CA2312768	740	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2312767 rs140941118	742	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2312764 rs777250106	747	T>I		No	ClinGen ExAC gnomAD
rs1366355909 CA352107266	748	L>P		No	ClinGen TOPMed gnomAD
rs755564846 CA2312763	751	K>T		No	ClinGen ExAC gnomAD
CA2312762 rs373363348	752	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352107214 rs1173392104	752	I>M		No	ClinGen gnomAD
CA2312760 rs767118132	754	L>F		No	ClinGen ExAC gnomAD
rs1388435858 CA352107188	754	L>H		No	ClinGen gnomAD
rs759136247 CA2312759	756	D>Y		No	ClinGen ExAC gnomAD
rs1450059679 CA352107137	757	D>Y		No	ClinGen gnomAD

1 associated diseases with P51178

[MIM: 151600]: Nail disorder, non-syndromic congenital, 3 (NDNC3)

A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). {ECO:0000269|PubMed:21665001}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). {ECO:0000269|PubMed:21665001}. Note=The disease is caused by variants affecting the gene represented in this entry.

11 regional properties for P51178

Type	Name	Position	InterPro Accession
domain	C2 domain	609 - 737	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	296 - 441	IPR000909
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	492 - 609	IPR001711
domain	Pleckstrin homology domain	19 - 132	IPR001849
domain	EF-hand domain	140 - 175	IPR002048-1
domain	EF-hand domain	180 - 208	IPR002048-2
domain	Phosphoinositide-specific phospholipase C, EF-hand-like domain	204 - 288	IPR015359
binding_site	EF-Hand 1, calcium-binding site	153 - 165	IPR018247-1
binding_site	EF-Hand 1, calcium-binding site	189 - 201	IPR018247-2
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, catalytic domain	295 - 596	IPR028391
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, EF-hand domain	144 - 283	IPR046975

Functions

		Description
EC Number	3.1.4.11	Phosphoric diester hydrolases
Subcellular Localization
PANTHER Family	PTHR10336	PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN
PANTHER Subfamily	PTHR10336:SF80	1-PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE PHOSPHODIESTERASE DELTA-1
PANTHER Protein Class	phospholipase
PANTHER Pathway Category	Inflammation mediated by chemokine and cytokine signaling pathway PLCbetagamma Oxytocin receptor mediated signaling pathway PLC beta Histamine H1 receptor mediated signaling pathway PLC 5HT2 type receptor mediated signaling pathway PLC Thyrotropin-releasing hormone receptor signaling pathway PLC

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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
GTPase activating protein binding	Binding to a GTPase activating protein.
phosphatidylinositol phospholipase C activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.

4 GO annotations of biological process

Name	Definition
lipid catabolic process	The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phospholipid metabolic process	The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.

31 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32383	PLC1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q1RML2	PLCZ1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Bos taurus (Bovine)	PR
P10895	PLCD1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	Bos taurus (Bovine)	SS
Q2VRL0	PLCZ1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Gallus gallus (Chicken)	PR
Q15111	PLCL1	Inactive phospholipase C-like protein 1	Homo sapiens (Human)	PR
Q9UPR0	PLCL2	Inactive phospholipase C-like protein 2	Homo sapiens (Human)	PR
Q86YW0	PLCZ1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Homo sapiens (Human)	PR
Q8N3E9	PLCD3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3	Homo sapiens (Human)	SS
Q9BRC7	PLCD4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4	Homo sapiens (Human)	SS
P16885	PLCG2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2	Homo sapiens (Human)	SS
P19174	PLCG1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	Homo sapiens (Human)	EV
Q00722	PLCB2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2	Homo sapiens (Human)	EV
Q01970	PLCB3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	Homo sapiens (Human)	EV
Q9NQ66	PLCB1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1	Homo sapiens (Human)	EV
Q9P212	PLCE1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	Homo sapiens (Human)	SS
Q15147	PLCB4	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4	Homo sapiens (Human)	PR
Q8K394	Plcl2	Inactive phospholipase C-like protein 2	Mus musculus (Mouse)	PR
Q8K2J0	Plcd3	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3	Mus musculus (Mouse)	PR
Q8K4S1	Plce1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	Mus musculus (Mouse)	SS
Q8R3B1	Plcd1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	Mus musculus (Mouse)	SS
Q7YRU3	PLCZ	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1	Sus scrofa (Pig)	PR
Q99P84	Plce1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	Rattus norvegicus (Rat)	EV
P10688	Plcd1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	Rattus norvegicus (Rat)	SS
Q8GV43	PLC6	Phosphoinositide phospholipase C 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C2	PLC5	Phosphoinositide phospholipase C 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NMA7	PLC9	Phosphoinositide phospholipase C 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9STZ3	PLC8	Phosphoinositide phospholipase C 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56W08	PLC3	Phosphoinositide phospholipase C 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39032	PLC1	Phosphoinositide phospholipase C 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q944C1	PLC4	Phosphoinositide phospholipase C 4	Arabidopsis thaliana (Mouse-ear cress)	PR
A5D6R3	plcd3a	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDSGRDFLTL	HGLQDDEDLQ	ALLKGSQLLK	VKSSSWRRER	FYKLQEDCKT	IWQESRKVMR
70	80	90	100	110	120
TPESQLFSIE	DIQEVRMGHR	TEGLEKFARD	VPEDRCFSIV	FKDQRNTLDL	IAPSPADAQH
130	140	150	160	170	180
WVLGLHKIIH	HSGSMDQRQK	LQHWIHSCLR	KADKNKDNKM	SFKELQNFLK	ELNIQVDDSY
190	200	210	220	230	240
ARKIFRECDH	SQTDSLEDEE	IEAFYKMLTQ	RVEIDRTFAE	AAGSGETLSV	DQLVTFLQHQ
250	260	270	280	290	300
QREEAAGPAL	ALSLIERYEP	SETAKAQRQM	TKDGFLMYLL	SADGSAFSLA	HRRVYQDMGQ
310	320	330	340	350	360
PLSHYLVSSS	HNTYLLEDQL	AGPSSTEAYI	RALCKGCRCL	ELDCWDGPNQ	EPIIYHGYTF
370	380	390	400	410	420
TSKILFCDVL	RAIRDYAFKA	SPYPVILSLE	NHCTLEQQRV	MARHLHAILG	PMLLNRPLDG
430	440	450	460	470	480
VTNSLPSPEQ	LKGKILLKGK	KLGGLLPPGG	EGGPEATVVS	DEDEAAEMED	EAVRSRVQHK
490	500	510	520	530	540
PKEDKLRLAQ	ELSDMVIYCK	SVHFGGFSSP	GTPGQAFYEM	ASFSENRALR	LLQESGNGFV
550	560	570	580	590	600
RHNVGHLSRI	YPAGWRTDSS	NYSPVEMWNG	GCQIVALNFQ	TPGPEMDVYQ	GRFQDNGACG
610	620	630	640	650	660
YVLKPAFLRD	PNGTFNPRAL	AQGPWWARKR	LNIRVISGQQ	LPKVNKNKNS	IVDPKVTVEI
670	680	690	700	710	720
HGVSRDVASR	QTAVITNNGF	NPWWDTEFAF	EVVVPDLALI	RFLVEDYDAS	SKNDFIGQST
730	740	750
IPLNSLKQGY	RHVHLMSKNG	DQHPSATLFV	KISLQD