AiPD: Autoinhibited Protein Database

Q9H211

Gene name	CDT1
Protein name	DNA replication factor Cdt1
Names	Double parked homolog, DUP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81620
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-198 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-198 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for Q9H211

Entry ID	Method	Resolution	Chain	Position	Source
2LE8	NMR	-	B	413-440	PDB
2WVR	X-ray	330 A	C	1-546	PDB
6QCG	X-ray	340 A	G/H/I/J/K/L	1-14	PDB
AF-Q9H211-F1	Predicted				AlphaFoldDB

712 variants for Q9H211

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000501513 rs767926757 RCV002524165 RCV001857081 CA8233502	58	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000023458 CA129283 rs387906918 VAR_065488	66	A>T	Meier-gorlin syndrome 4 (mgors4) Meier-Gorlin syndrome 4 MGORS4 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000989650 rs139038990 RCV000973215 CA8233538	83	P>L	Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8233569 VAR_065489 rs779871947	117	Q>H	Meier-gorlin syndrome 4 (mgors4) MGORS4 [Ensembl, UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000974644 CA8233725 rs145552478 RCV000501711 RCV000765317	205	G>S	Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001302990 CA8233753 rs750025399 RCV003166708	228	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000612563 rs507329 RCV001523129 VAR_054504 RCV000116652 CA152278	234	C>R	Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA152280 RCV001579289 VAR_054505 RCV001523130 rs480727 RCV000116654	262	T>A	Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779105998 CA8234017 RCV001331422	375	M>I	Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs143840572 CA8234026 RCV000509243	385	R>H	Variant assessed as Somatic; 0.0 impact. Meier-Gorlin syndrome 4 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002550693 CA8234131 RCV000996384 rs139052420	450	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8234133 rs200672589 RCV002056841 RCV000504305 VAR_065490 RCV000714654	453	R>W	Meier-Gorlin syndrome 4 MGORS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA129282 RCV000023455 rs387906917 VAR_065491 RCV000420938 RCV000825514	462	R>Q	Meier-gorlin syndrome 4 (mgors4) Meier-Gorlin syndrome Meier-Gorlin syndrome 4 MGORS4 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_065492 rs200652608 COSM974774 RCV000023459 CA129284 RCV001596941	468	E>K	Meier-gorlin syndrome 4 (mgors4) endometrium Meier-Gorlin syndrome 4 MGORS4 [Ensembl, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs141663679 RCV000954754 RCV001262500 RCV002517061 RCV000194987 CA209528	471	P>A	Inborn genetic diseases Meier-Gorlin syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147914553 CA397083436 RCV000023456 CA397083437	520	Y>*	Meier-Gorlin syndrome 4 Meier-gorlin syndrome 4 (mgors4) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8233482 rs764424809	2	E>G		No	ClinGen ExAC gnomAD
CA286412888 rs990267710	2	E>K		No	ClinGen TOPMed
rs1294161828 CA397069729	3	Q>H		No	ClinGen TOPMed
rs757462069 CA8233484	4	R>C		No	ClinGen ExAC gnomAD
CA8233485 rs781585324	4	R>L		No	ClinGen ExAC gnomAD
CA8233486 rs746046888	5	R>C		No	ClinGen ExAC
CA8233488 rs780221469	6	V>L		No	ClinGen ExAC gnomAD
rs749237888 CA8233489	7	T>S		No	ClinGen ExAC gnomAD
rs1460180527 CA397069776	8	D>A		No	ClinGen TOPMed
rs1394255147 CA397069783	8	D>E		No	ClinGen TOPMed
rs1463151323 CA397069771	8	D>H		No	ClinGen TOPMed gnomAD
CA397069773 rs1463151323	8	D>Y		No	ClinGen TOPMed gnomAD
rs1295956463 CA397069825	11	A>V		No	ClinGen TOPMed gnomAD
RCV001314794 CA8233492 rs747955522 CA397069876	16	G>R		No	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
CA397069890 rs771807015	17	P>A		No	ClinGen ExAC TOPMed gnomAD
CA397069895 rs1222100253	17	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771807015 CA8233494	17	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	19	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286412914 rs992119597	19	R>C		No	ClinGen TOPMed gnomAD
RCV001309912 rs772886944 CA397069919	19	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772886944 CA8233495	19	R>L		No	ClinGen ExAC TOPMed gnomAD
CA286412912 rs992119597	19	R>S		No	ClinGen TOPMed gnomAD
CA397069952 rs1249757374	21	A>V		No	ClinGen gnomAD
rs1597503748 CA397069984	24	K>Q		No	ClinGen Ensembl
rs1048076521 CA286412922	25	L>P		No	ClinGen TOPMed
CA397070001 rs1223199043	25	L>V		No	ClinGen gnomAD
rs1479390790 CA397070031	27	C>Y		No	ClinGen gnomAD
CA8233498 rs776191697	28	R>P		No	ClinGen ExAC gnomAD
rs1198442469 CA397070043	28	R>S		No	ClinGen gnomAD
rs1167867083 CA397070079	30	P>L		No	ClinGen TOPMed gnomAD
CA397070077 rs1167867083	30	P>R		No	ClinGen TOPMed gnomAD
CA286412931 rs1040900482	30	P>S		No	ClinGen TOPMed gnomAD
rs1457945528 CA397070103	32	P>S		No	ClinGen gnomAD
rs996788411 CA286412937	33	A>D		No	ClinGen TOPMed
CA397070108 rs900968138	33	A>S		No	ClinGen TOPMed gnomAD
CA286412935 rs900968138	33	A>T		No	ClinGen TOPMed gnomAD
CA397070113 rs1350752511	34	R>G		No	ClinGen TOPMed gnomAD
rs1397013823 CA397070142	35	P>L		No	ClinGen TOPMed
CA397070147 rs1342162490	36	A>S		No	ClinGen Ensembl
rs1171887495 CA397070158	37	L>V		No	ClinGen TOPMed
rs1239022151 CA397070186	38	R>L		No	ClinGen TOPMed
rs1363089635 CA397070194	39	A>V		No	ClinGen gnomAD
rs751960101 CA8233500	40	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397070208 rs751960101	40	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1307032221 CA397070241	43	A>S		No	ClinGen gnomAD
rs1307032221 CA397070237	43	A>T		No	ClinGen gnomAD
TCGA novel	44	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs587780306 RCV000116639 RCV000966015 CA230994	44	T>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1201005781 CA397070255	45	S>G		No	ClinGen TOPMed
rs1349999626 CA397070266	45	S>T		No	ClinGen TOPMed
rs1012021064 CA286412943	47	S>N		No	ClinGen TOPMed
rs1293974635 CA397070306	48	R>H		No	ClinGen TOPMed gnomAD
rs1293974635 CA397070310	48	R>L		No	ClinGen TOPMed gnomAD
CA286412944 rs1021574193	48	R>S		No	ClinGen TOPMed
rs967475200 CA286412946	50	R>H		No	ClinGen TOPMed
CA397070334 rs1311086899	50	R>S		No	ClinGen TOPMed
rs1221564127 CA397070351	51	A>S		No	ClinGen TOPMed gnomAD
rs1242551965 CA397070366	51	A>V		No	ClinGen TOPMed gnomAD
rs1597503816 CA397070374	52	R>C		No	ClinGen Ensembl
rs1486713182 CA397070380	52	R>L		No	ClinGen gnomAD
CA397070399 rs1184453539	53	P>L		No	ClinGen TOPMed gnomAD
rs1382784205 CA397070451	56	A>D		No	ClinGen TOPMed gnomAD
CA397070440 rs1484061805	56	A>T		No	ClinGen gnomAD
rs1382784205 CA397070455	56	A>V		No	ClinGen TOPMed gnomAD
rs561655241 CA397070561	62	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561655241 RCV000970020 CA8233503 RCV000503296	62	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs756387541 CA8233504	63	R>G		No	ClinGen ExAC gnomAD
rs1486577551 CA397070587	64	P>S		No	ClinGen TOPMed
rs1433286943 CA397070630	67	R>L		No	ClinGen gnomAD
rs1285888584 CA397070657	69	R>I		No	ClinGen TOPMed
rs753921598 CA8233506	71	R>Q		No	ClinGen ExAC gnomAD
rs780344447 CA397070679	71	R>W		No	ClinGen ExAC gnomAD
CA8233507 rs754918560	74	V>A		No	ClinGen ExAC gnomAD
rs754918560 CA397070726	74	V>G		No	ClinGen ExAC gnomAD
CA286412969 rs952982891	74	V>L		No	ClinGen TOPMed gnomAD
rs983826606 CA397070753	76	E>*		No	ClinGen TOPMed gnomAD
rs1357911476 CA397070757	76	E>A		No	ClinGen TOPMed
CA397070766 rs1318615644	76	E>D		No	ClinGen gnomAD
CA286412977 rs983826606	76	E>K		No	ClinGen TOPMed gnomAD
CA397070903 rs1435492295	77	V>F		No	ClinGen TOPMed
CA397070922 rs1377491989	78	S>A		No	ClinGen TOPMed
CA397070925 rs1172065200	78	S>Y		No	ClinGen TOPMed
rs1364107699 CA397070950	79	S>N		No	ClinGen TOPMed
CA8233535 rs769359873	79	S>R		No	ClinGen ExAC TOPMed gnomAD
CA286413296 rs902450437	80	P>S		No	ClinGen TOPMed
rs902450437 CA286413293	80	P>T		No	ClinGen TOPMed
CA8233537 rs762472427	81	S>I		No	ClinGen ExAC TOPMed gnomAD
CA397070992 rs762472427	81	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1056308959 CA397071019	82	T>I		No	ClinGen TOPMed gnomAD
rs1056308959 CA286413304	82	T>N		No	ClinGen TOPMed gnomAD
rs1056308959 CA397071017	82	T>S		No	ClinGen TOPMed gnomAD
CA286413309 rs139038990	83	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139038990 CA8233539	83	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759622950 CA8233542	85	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397071121 rs1406633426	86	P>L		No	ClinGen gnomAD
rs765420165 CA397071116	86	P>S		No	ClinGen ExAC gnomAD
rs765420165 CA8233543	86	P>T		No	ClinGen ExAC gnomAD
CA8233544 rs375032017	90	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758373042 CA8233545	92	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397071242 rs758373042	92	P>R		No	ClinGen ExAC TOPMed gnomAD
CA397071233 rs1330293139	92	P>S		No	ClinGen gnomAD
rs751451179 CA8233547	93	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1337000526 CA397071271	93	S>P		No	ClinGen gnomAD
rs780790780 CA8233549	94	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757078098 CA8233548	94	P>S		No	ClinGen ExAC TOPMed gnomAD
CA286413336 rs145827882	95	G>D		No	ClinGen ESP TOPMed gnomAD
rs1411117646 CA397071337	96	Q>*		No	ClinGen TOPMed
CA8233551 rs755712993	96	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA397071345 rs755712993	96	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8233553 rs779651660	97	K>N		No	ClinGen ExAC TOPMed gnomAD
RCV000500555 CA8233554 RCV000910695 rs142692932	98	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	99	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397072211 rs1597504243	102	T>P		No	ClinGen Ensembl
CA397072241 rs773890395	103	P>L		No	ClinGen ExAC gnomAD
rs773890395 CA8233555	103	P>R		No	ClinGen ExAC gnomAD
CA397072239 rs1207250612	103	P>S		No	ClinGen TOPMed
rs1327591000 CA397072246	104	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA286413364 rs897295278	104	A>V		No	ClinGen TOPMed
rs141874338 CA8233559	106	G>D		No	ClinGen ESP ExAC gnomAD
CA286413372 rs377400945	106	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377400945 CA8233558	106	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001345396 rs141874338	106	G>V		No	ClinVar dbSNP
rs1357927628 CA397072350	108	P>L		No	ClinGen TOPMed
CA8233560 rs765346879	108	P>S		No	ClinGen ExAC gnomAD
CA397072373 rs763045183	110	H>N		No	ClinGen ExAC TOPMed gnomAD
CA397072388 rs1327231508	110	H>Q		No	ClinGen TOPMed
rs763045183 CA8233562	110	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA397072439 rs1320586110	113	S>F		No	ClinGen TOPMed
CA8233567 rs750150918	115	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA397072473 rs767411891	115	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs767411891 CA8233566	115	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA286413388 rs769259147	116	D>N		No	ClinGen gnomAD
CA397072488 rs769259147	116	D>Y		No	ClinGen gnomAD
rs755836854 CA397072509	117	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs755836854 CA8233568	117	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA397072761 rs1235166851	122	E>D		No	ClinGen TOPMed
rs1197526229 CA397072754	122	E>Q		No	ClinGen TOPMed gnomAD
CA8233618 rs753685223	123	L>H		No	ClinGen ExAC gnomAD
rs759307080 CA8233619	124	A>E		No	ClinGen ExAC gnomAD
CA8233620 rs764961494	125	S>L		No	ClinGen ExAC gnomAD
CA397072806 rs1203096584	125	S>P		No	ClinGen TOPMed
rs1347748413 CA397072860	127	L>P		No	ClinGen gnomAD
CA397072899 rs1463041438	129	R>Q		No	ClinGen gnomAD
CA8233623 rs757879446	129	R>W		No	ClinGen ExAC gnomAD
rs777272162 CA8233624	130	A>S		No	ClinGen ExAC gnomAD
CA397072942 rs756607694	131	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756607694 CA8233626	131	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377742778 CA8233625	131	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213241588 CA397072950	132	E>Q		No	ClinGen TOPMed
CA286413480 rs879237563	133	L>M		No	ClinGen Ensembl
rs780436081 CA8233627	133	L>P		No	ClinGen ExAC gnomAD
CA397072976 rs1300814915	134	G>R		No	ClinGen gnomAD
CA8233629 rs749626249	135	A>P		No	ClinGen ExAC TOPMed gnomAD
RCV000966016 rs3218725 RCV000116648 CA152272 VAR_029163	135	A>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397073020 rs1224192420	136	R>G		No	ClinGen TOPMed
rs534520741 CA397073046	137	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534520741 CA8233630	137	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8233633 rs773329755	138	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149361322 CA8233631 RCV001348784	138	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA397073080 rs1190312018	139	A>E		No	ClinGen TOPMed gnomAD
CA397073075 rs1487370229	139	A>T		No	ClinGen gnomAD
rs1190312018 CA397073087	139	A>V		No	ClinGen TOPMed gnomAD
CA286413493 rs1044879033	140	L>V		No	ClinGen TOPMed gnomAD
CA397073117 rs147217711	141	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233635 rs559019677	141	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1597504475 CA397073124	142	A>P		No	ClinGen Ensembl
TCGA novel	142	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397073193 rs1429736027	144	A>S		No	ClinGen TOPMed gnomAD
CA397073188 rs1429736027	144	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	144	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765088059 CA8233638	145	Q>R		No	ClinGen ExAC gnomAD
CA397073269 rs1232481701	146	D>G		No	ClinGen gnomAD
rs1293255919 CA397073253	146	D>H		No	ClinGen gnomAD
rs1362939707 CA397073296	147	A>S		No	ClinGen gnomAD
CA397073306 rs1384067940	147	A>V		No	ClinGen gnomAD
rs1295576552 CA397073313	148	G>E		No	ClinGen TOPMed gnomAD
rs1295576552 CA397073316	148	G>V		No	ClinGen TOPMed gnomAD
rs1341525912 CA397073324	149	E>*		No	ClinGen TOPMed gnomAD
rs762650852 CA8233639	149	E>D		No	ClinGen ExAC gnomAD
rs763576518 CA8233640	150	S>P		No	ClinGen ExAC gnomAD
CA397073374 rs1319813016	151	C>G		No	ClinGen gnomAD
CA397073415 rs751046700	152	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8233641 rs751046700	152	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1597504512 CA397073387	152	T>P		No	ClinGen Ensembl
CA397073423 rs756658767	153	P>A		No	ClinGen ExAC
CA8233643 rs756658767	153	P>S		No	ClinGen ExAC
rs1186266322 CA397073476	155	A>G		No	ClinGen gnomAD
rs370159425 CA286413513	155	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233644 rs370159425	155	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	156	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444682337 CA397073495	156	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748806867 CA397073523	157	G>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748806867 CA8233646	157	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	158	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8233648 rs367849928	158	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233649 rs758643449	159	P>S		No	ClinGen ExAC gnomAD
CA397073612 rs1483327272	161	E>G		No	ClinGen TOPMed gnomAD
CA397073648 rs777756707	162	P>A		No	ClinGen ExAC TOPMed gnomAD
rs777756707 CA8233650	162	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8233678 rs369220248	165	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233682 rs772707090	169	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760003134 CA8233683	171	Q>K		No	ClinGen ExAC gnomAD
CA8233684 rs765752707	171	Q>R		No	ClinGen ExAC gnomAD
RCV000116650 CA230996 VAR_029164 rs3218727	172	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763410679 RCV001062771 CA8233685	172	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8233687 rs751847681 CA397074178	173	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8233686 rs764491070	173	F>Y		No	ClinGen ExAC gnomAD
rs781458794 CA8233689	174	H>Q		No	ClinGen ExAC gnomAD
rs757541865 CA8233688	174	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8233691 rs756094228	175	A>V		No	ClinGen ExAC gnomAD
rs1272680751 CA397074229	176	L>P		No	ClinGen gnomAD
CA397074255 rs1343795670	177	A>V		No	ClinGen gnomAD
CA8233692 rs780068467	178	Q>H		No	ClinGen ExAC gnomAD
rs749112424 CA286413799	179	P>A		No	ClinGen ExAC TOPMed gnomAD
rs753938206 CA286413801	179	P>L		No	ClinGen TOPMed gnomAD
CA8233693 rs749112424	179	P>T		No	ClinGen ExAC TOPMed gnomAD
rs778663120 CA8233695	180	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	180	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8233698 rs148460469	181	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA286413810 rs148460469	181	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs747865155 CA8233697	181	L>V		No	ClinGen ExAC gnomAD
rs545919129 CA8233699	182	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1254721417 CA397074424	182	P>S		No	ClinGen TOPMed gnomAD
rs1418617032 CA397074511	184	L>F		No	ClinGen TOPMed
CA286413822 rs577211739 CA8233702	185	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286413819 rs577211739	185	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1167857590 CA397074565	186	L>V		No	ClinGen TOPMed gnomAD
rs751939089 CA8233703	187	P>S		No	ClinGen ExAC gnomAD
rs762171997 CA8233704	188	Y>*		No	ClinGen ExAC
CA397074604 COSM1737516 rs1406905903	188	Y>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397074624 rs1321283671	189	K>R		No	ClinGen gnomAD
TCGA novel	190	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8233706 rs750567415	192	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1709504 rs756222380 CA8233707	193	L>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397074759 rs1227222385	194	A>P		No	ClinGen TOPMed
rs544489602 CA8233710	194	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747918319 CA8233712	195	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8233715 rs777434586	196	M>R		No	ClinGen ExAC TOPMed gnomAD
CA8233714 rs777434586	196	M>T		No	ClinGen ExAC TOPMed gnomAD
rs758141929 CA8233713	196	M>V		No	ClinGen ExAC gnomAD
rs766683758 CA286413846	197	F>L		No	ClinGen Ensembl
rs140700251 CA8233716	198	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8233717 rs775994089	198	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749876459 CA8233718	200	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8233719 rs769261147	202	T>I		No	ClinGen ExAC TOPMed gnomAD
rs762294762 CA8233721	203	I>N		No	ClinGen ExAC gnomAD
CA8233723 rs773495319	204	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8233726 rs753832416	205	G>D		No	ClinGen ExAC gnomAD
CA8233729 rs752592573	206	M>I		No	ClinGen ExAC TOPMed gnomAD
rs765182594 CA8233728	206	M>T		No	ClinGen ExAC gnomAD
CA8233727 rs754960043	206	M>V		No	ClinGen ExAC gnomAD
CA8233730 rs758197391	207	L>F		No	ClinGen ExAC gnomAD
rs75439984 CA286413873	208	H>P		No	ClinGen Ensembl
rs1384922743 CA397075074	209	N>D		No	ClinGen TOPMed
rs980887091 CA286413876	210	R>C		No	ClinGen TOPMed gnomAD
rs1410505499 CA397075122	211	S>F		No	ClinGen TOPMed gnomAD
rs746736930 CA8233732	211	S>P		No	ClinGen ExAC gnomAD
CA8233736 COSM974766 rs769385427	212	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8233738 rs146872515	213	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs146872515 CA8233737	213	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8233740 rs370127987	214	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370127987 CA397075172	214	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8233742 rs201871319	215	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs765235636 CA8233745	217	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752647897 CA8233746	217	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397075248 rs1409329871	218	K>E		No	ClinGen gnomAD
CA397075305 rs1336899104	220	Q>*		No	ClinGen gnomAD
rs762869154 CA8233748	220	Q>H		No	ClinGen ExAC gnomAD
rs542997068 CA286413901	221	R>Q		No	ClinGen TOPMed
rs764018742 CA8233749	221	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397075342 rs1332733359	222	G>D		No	ClinGen TOPMed gnomAD
CA397075347 rs1332733359	222	G>V		No	ClinGen TOPMed gnomAD
CA8233750 rs373340835	223	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8233751 rs570089762	224	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1228011401 CA397075409	225	D>G		No	ClinGen gnomAD
rs1228011401 CA397075407	225	D>V		No	ClinGen gnomAD
rs1256723276 CA397075419	226	M>V		No	ClinGen gnomAD
rs377465796 CA8233752	227	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA286417605 COSM1679330 rs538165836	228	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs1365996136 CA397076415	230	R>C		No	ClinGen gnomAD
rs1597505116 CA397076433	230	R>H		No	ClinGen Ensembl
rs1046561510 CA286417777	231	F>L		No	ClinGen Ensembl
rs368285287 CA8233784	232	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA397076515 rs775598586	233	E>D		No	ClinGen ExAC TOPMed gnomAD
CA397076503 rs1272433692	233	E>G		No	ClinGen gnomAD
CA286417789 rs507329	234	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs507329 CA397076516	234	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8233786 rs562796806	234	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562796806 CA8233787	234	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286417793 rs938131734	235	N>D		No	ClinGen TOPMed gnomAD
rs761792897 CA397076538	235	N>I		No	ClinGen ExAC TOPMed gnomAD
rs761792897 CA8233788	235	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1190255475 CA397076551	236	V>I		No	ClinGen TOPMed gnomAD
rs919041444 CA286417800	237	G>S		No	ClinGen TOPMed gnomAD
rs993497612 CA286417834	240	K>R		No	ClinGen TOPMed
rs145904773 CA8233790	241	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351974702 CA397076695	242	V>A		No	ClinGen gnomAD
CA8233792 rs766150941	242	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397076724 rs1187766769	243	Y>C		No	ClinGen TOPMed
CA397076738 rs1389607805	244	P>A		No	ClinGen gnomAD
rs145319641 CA8233795	244	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145319641 CA8233796	244	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397076739 rs1389607805	244	P>S		No	ClinGen gnomAD
rs1295515267 CA397076756	245	A>T		No	ClinGen TOPMed
rs1364374363 CA397076770	245	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397076784 rs890394045	246	S>C		No	ClinGen TOPMed gnomAD
CA286417928 rs890394045	246	S>F		No	ClinGen TOPMed gnomAD
CA397076795 rs1319674922	247	Y>H		No	ClinGen gnomAD
CA230998 RCV000116653 rs149192605	248	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs780256305 CA8233800	248	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780256305 CA8233799	248	R>L		No	ClinGen ExAC TOPMed gnomAD
rs149192605 CA8233798	248	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777602555 CA8233801	249	F>LMRKA*		No	ClinGen ExAC
rs199723040 CA8233802	250	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs774484812 CA8233803	250	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774484812 CA8233804	250	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1246880966 CA397076853	251	Q>K		No	ClinGen TOPMed gnomAD
CA8233805 rs772110916	251	Q>L		No	ClinGen ExAC gnomAD
rs772110916 CA397076865	251	Q>R		No	ClinGen ExAC gnomAD
rs760579130 CA8233807	252	E>D		No	ClinGen ExAC gnomAD
rs773233928 CA8233806	252	E>K		No	ClinGen ExAC gnomAD
CA8233808 RCV001344779 rs143284523	253	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs148337159 RCV000887228 RCV000500107 CA8233809	253	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148337159 CA8233810	253	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8233812 rs752224369	254	S>R		No	ClinGen ExAC gnomAD
rs757756665 CA8233813	256	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750859693 CA8233815	258	F>C		No	ClinGen ExAC gnomAD
rs750859693 CA397076952	258	F>S		No	ClinGen ExAC gnomAD
rs749537208 CA8233818	260	D>G		No	ClinGen ExAC gnomAD
rs374611513 CA8233817	260	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374611513 CA397076984	260	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs755194747 RCV000502524 CA8233819	261	G>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	262	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563825572 CA8233820	263	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA8233821 rs772237549	263	R>S		No	ClinGen ExAC gnomAD
CA397077038 rs1283575439	263	R>T		No	ClinGen TOPMed
CA397077044 rs1442468157	264	R>W		No	ClinGen gnomAD
rs746885766 CA8233823	265	S>*		No	ClinGen ExAC gnomAD
CA8233824 rs531235485	266	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1252982289 CA397077097	266	D>E		No	ClinGen gnomAD
CA286418031 rs1025573747	266	D>Y		No	ClinGen TOPMed gnomAD
CA8233825 rs776483689	268	Q>*		No	ClinGen ExAC gnomAD
CA8233826 rs147045046	269	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs774961045 CA8233828	271	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8233827 rs769470361	271	I>V		No	ClinGen ExAC gnomAD
rs377367421 CA8233830	272	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233831 rs377367421	272	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397077291 rs761162797	276	E>*		No	ClinGen ExAC gnomAD
rs963613048 CA397077310	276	E>D		No	ClinGen TOPMed gnomAD
CA8233832 rs761162797	276	E>Q		No	ClinGen ExAC gnomAD
CA397077320 rs1352074652	277	Q>E		No	ClinGen gnomAD
rs1567501683 CA397077324	277	Q>R		No	ClinGen Ensembl
CA286418270 rs929444235	278	E>A		No	ClinGen TOPMed gnomAD
CA397077459 rs1230349716	278	E>D		No	ClinGen TOPMed gnomAD
rs1271533148 CA397077464	279	A>T		No	ClinGen gnomAD
rs768273773 CA8233870	280	D>G		No	ClinGen ExAC TOPMed gnomAD
rs368718178 CA8233872	281	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192351671 CA397077559	282	A>G		No	ClinGen TOPMed gnomAD
rs771416695 CA8233873	282	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397077562 rs1192351671	282	A>V		No	ClinGen TOPMed gnomAD
rs1567501791 CA397077564	283	A>P		No	ClinGen Ensembl
CA397077579 rs777208715	284	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397077587 rs1473672566	284	P>L		No	ClinGen gnomAD
rs777208715 CA8233874	284	P>S		No	ClinGen ExAC TOPMed gnomAD
CA397077596 rs1416732050	285	Q>*		No	ClinGen gnomAD
TCGA novel	285	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765701438 CA8233876	287	T>M		No	ClinGen ExAC TOPMed gnomAD
RCV000927258 rs775967677 CA8233877	289	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000593478 rs200820843 CA8233878	290	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8233879 rs570140833	290	R>H	Variant assessed as Somatic; 6.875e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs200820843 CA286418288	290	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757420761 CA8233881	291	L>F		No	ClinGen ExAC gnomAD
CA397077859 rs1256804835	293	Q>H		No	ClinGen gnomAD
rs767477776 CA8233882	293	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs537487304 CA8233883	293	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8233884 rs755972697	294	R>*		No	ClinGen ExAC TOPMed gnomAD
CA286418311 rs950395463	294	R>Q		No	ClinGen TOPMed gnomAD
rs139127078 CA286418312	295	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001298023 rs1908845159	295	R>L		No	ClinVar dbSNP
CA8233887 rs149521649	295	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233886 rs149521649	295	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs139127078 CA8233885	295	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs148645974 CA397077912	296	Q>H		No	ClinGen ESP TOPMed gnomAD
CA397078016 rs1403548687	300	Q>*		No	ClinGen TOPMed gnomAD
RCV000116637 rs143149360 CA230992	300	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371671359 CA8233891	302	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233892 rs770180406	303	V>M		No	ClinGen ExAC gnomAD
rs1334153060 CA397078205	305	H>L		No	ClinGen gnomAD
CA8233893 rs542082324	306	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397078222 rs542082324	306	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347121102 CA397078314	307	K>N		No	ClinGen gnomAD
CA286418359 rs906896081	307	K>Q		No	ClinGen Ensembl
rs1484718263 CA397078340	308	E>G		No	ClinGen gnomAD
CA8233894 rs764489464	308	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397078388 rs1187572260	309	H>Q		No	ClinGen TOPMed gnomAD
CA8233896 rs774767743	309	H>R		No	ClinGen ExAC gnomAD
CA397078626 rs751161254	312	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8233926 rs200373131	312	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8233927 rs751161254	312	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8233928 rs756845256	315	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780841230 CA8233929	317	L>V		No	ClinGen ExAC gnomAD
rs1428315038 CA397078756	318	S>N		No	ClinGen gnomAD
CA8233932 rs779511569	318	S>R		No	ClinGen ExAC TOPMed gnomAD
rs139116876 CA8233934	320	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139116876 CA8233935	320	A>T	Variant assessed as Somatic; 4.913e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs151127192 CA8233938	321	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs144458606 CA8233937	321	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000194441 rs797045446 CA208613	322	V>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8233939 rs753386686	324	P>L		No	ClinGen ExAC gnomAD
rs763895797 CA8233943 CA8233944	326	D>E		No	ClinGen ExAC gnomAD
rs752643196 CA8233941	326	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752643196 CA8233942	326	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA286418776 rs141042249	329	T>I		No	ClinGen ESP TOPMed
rs756935088 CA8233945	330	R>H		No	ClinGen ExAC gnomAD
rs150252167 CA8233947	333	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233949 rs779291173	334	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1274868160 CA397079174	334	R>H		No	ClinGen TOPMed
CA8233951 rs758746304	336	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397079288 rs1156943864	337	V>A		No	ClinGen TOPMed gnomAD
CA8233953 rs145752768	337	V>M		No	ClinGen ESP
CA397079376 rs747236636	341	P>H		No	ClinGen ExAC gnomAD
rs747236636 CA8233955	341	P>L		No	ClinGen ExAC gnomAD
rs1344542219 CA397079370	341	P>T		No	ClinGen gnomAD
rs372182503 CA8233957	342	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463237618 CA397079478	343	I>F		No	ClinGen gnomAD
CA8233958 rs745980812	344	E>D		No	ClinGen ExAC gnomAD
RCV000116631 rs587780303 CA230986	344	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs587780303 CA397079504	344	E>Q		No	ClinGen TOPMed gnomAD
CA8233959 rs141611072	345	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396298799 CA397079575	347	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs762939263 CA8233961	347	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1597505770 CA397079599	348	L>P		No	ClinGen Ensembl
TCGA novel	350	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8233963 rs774170489	351	P>L		No	ClinGen ExAC gnomAD
rs1234385024 CA397079754	353	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs750027487 CA8233966	354	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	355	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397079803 rs1433751708	355	E>K		No	ClinGen gnomAD
rs765899435 CA8233968	356	K>Q		No	ClinGen ExAC gnomAD
rs1373498979 CA397079965	358	T>I		No	ClinGen gnomAD
CA286418854 rs1029068826	359	T>A		No	ClinGen Ensembl
rs957412599 CA286418872	360	A>V		No	ClinGen Ensembl
CA397080031 rs1355983031	361	Q>E		No	ClinGen gnomAD
CA397080029 rs1355983031	361	Q>K		No	ClinGen gnomAD
rs1041008026 CA286418880	363	V>A		No	ClinGen TOPMed
CA8233972 rs747397472	364	L>M		No	ClinGen ExAC TOPMed gnomAD
CA8233973 rs747397472	364	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1375147429 CA397080135	365	A>G		No	ClinGen TOPMed
CA286418892 rs781400118	366	R>G		No	ClinGen ExAC gnomAD
rs372945501 CA397080171	366	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372945501 CA8233975	366	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8233974 rs781400118	366	R>W		No	ClinGen ExAC gnomAD
CA8233976 rs376333288	368	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA397080962 rs376333288	368	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA397080964 rs1346275185	368	R>H		No	ClinGen gnomAD
rs370716489 RCV001294324 CA286418931	370	L>V		No	ClinGen ClinVar ESP TOPMed dbSNP
CA8233978 rs749227990	371	I>L		No	ClinGen ExAC TOPMed gnomAD
CA397081014 rs1202670110	373	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397081008 rs1439838246	373	P>T		No	ClinGen gnomAD
rs774113768 CA397081021	374	R>K		No	ClinGen ExAC gnomAD
CA8233982 rs761703584	374	R>S		No	ClinGen ExAC TOPMed gnomAD
rs774113768 CA8233981	374	R>T		No	ClinGen ExAC gnomAD
rs748163520 CA8234018	377	K>E		No	ClinGen ExAC gnomAD
CA8234019 rs772122928	377	K>T		No	ClinGen ExAC gnomAD
rs777794724 CA8234020	378	A>T		No	ClinGen ExAC gnomAD
CA397081163 rs1334081614	379	L>S		No	ClinGen TOPMed
rs746823179 CA8234021	380	S>N		No	ClinGen ExAC gnomAD
rs200300950 CA286419299	381	Q>R		No	ClinGen TOPMed gnomAD
rs557565314 CA8234025	385	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762360962 CA8234027	386	S>C		No	ClinGen ExAC gnomAD
rs1233698892 CA397081230	386	S>P		No	ClinGen TOPMed gnomAD
rs768020294 CA8234028	387	A>T		No	ClinGen ExAC gnomAD
rs773673217 CA8234029	388	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8234031 rs563958108	389	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8234032 rs754131326	390	S>T		No	ClinGen ExAC gnomAD
CA397081324 rs1486549030	391	S>R		No	ClinGen gnomAD
rs755152546 CA8234033	392	P>A		No	ClinGen ExAC gnomAD
rs1055670587 CA286419341	392	P>R		No	ClinGen TOPMed gnomAD
rs746870943 CA8234038	393	G>A		No	ClinGen ExAC TOPMed gnomAD
CA397081356 rs746870943	393	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8234037 rs531159541	393	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158525129 CA397081385	394	S>F		No	ClinGen gnomAD
CA397081375 rs1246490489	394	S>P		No	ClinGen TOPMed
rs745596794 CA8234040	395	P>R		No	ClinGen ExAC gnomAD
rs769418929 CA8234041	397	P>S		No	ClinGen ExAC gnomAD
CA8234042 rs775060554	398	A>V		No	ClinGen ExAC gnomAD
RCV000193971 CA207817 rs768108309	399	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8234045 rs367845242	400	P>L		No	ClinGen ESP ExAC TOPMed
rs773820231 CA8234044	400	P>T		No	ClinGen ExAC
rs139927650 CA8234047	401	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8234048 rs759922830	401	A>V		No	ClinGen ExAC gnomAD
rs758571492 CA8234051	402	T>P		No	ClinGen ExAC gnomAD
rs758571492 CA397081532	402	T>S		No	ClinGen ExAC gnomAD
rs781095684 CA8234055	403	P>L		No	ClinGen ExAC TOPMed gnomAD
CA286419411 rs781095684	403	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8234053 rs199674701	403	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8234054 rs199674701	403	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8234058 rs779706051	404	P>L		No	ClinGen ExAC gnomAD
CA8234057 rs755867677	404	P>S		No	ClinGen ExAC gnomAD
CA8234059 rs748918827	405	A>P		No	ClinGen ExAC TOPMed gnomAD
CA397081576 rs1172232372	406	T>I		No	ClinGen gnomAD
CA8234060 rs768196304	406	T>P		No	ClinGen ExAC gnomAD
CA8234061 RCV000996383 rs773731569	407	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773731569 CA397081591	407	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8234062 rs773731569	407	P>R		No	ClinGen ExAC TOPMed gnomAD
rs777128844 RCV001315364 CA8234063	408	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	409	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8234064 rs760009000	409	A>V		No	ClinGen ExAC gnomAD
CA397081613 rs1390906514	410	A>T		No	ClinGen gnomAD
CA8234067 rs775902253	412	P>L		No	ClinGen ExAC gnomAD
CA397081650 rs770232566	412	P>S		No	ClinGen ExAC gnomAD
CA8234066 rs770232566	412	P>T		No	ClinGen ExAC gnomAD
rs1476945209 CA397081657	413	S>G		No	ClinGen TOPMed
CA397081662 rs1302462116	413	S>I		No	ClinGen gnomAD
rs763233317 RCV001349409 CA8234068	414	A>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1490767702 CA397081685	416	K>Q		No	ClinGen TOPMed
rs1287487253 CA397081703	417	G>E		No	ClinGen TOPMed
rs764297729 CA8234070	417	G>R		No	ClinGen ExAC gnomAD
rs1026845590 CA397081707	418	V>L		No	ClinGen gnomAD
CA286419464 rs1026845590	418	V>M		No	ClinGen gnomAD
rs952708220 CA286419468	420	Q>*		No	ClinGen gnomAD
CA397081737 rs1597506213	421	D>G		No	ClinGen Ensembl
CA8234072 rs761890744	421	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1429505219 CA397081743	422	L>M		No	ClinGen gnomAD
CA397081764 rs1461658755	424	E>G		No	ClinGen gnomAD
CA8234073 rs767389893	424	E>Q		No	ClinGen ExAC gnomAD
CA397081762 rs1461658755	424	E>V		No	ClinGen gnomAD
rs779795890 CA286419477	425	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779795890 CA8234076	425	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8234075 rs368049819	425	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471061871 CA397081818	426	I>L		No	ClinGen TOPMed
rs1597506303 CA397081825	426	I>T		No	ClinGen Ensembl
COSM1200631 CA8234106 rs749671711	427	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769020559 CA8234107	427	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397081840 rs1359772760	428	A>V		No	ClinGen gnomAD
rs1314412876 CA397081857	430	E>K		No	ClinGen gnomAD
CA397081878 rs1567502590	431	A>E		No	ClinGen Ensembl
CA8234109 rs146214741	431	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8234110 rs772113734	432	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs894510057 CA286419602	432	Q>P		No	ClinGen Ensembl
rs773268270 CA8234111	433	K>M		No	ClinGen ExAC gnomAD
rs1243210572 CA397081885	433	K>Q		No	ClinGen TOPMed
CA8234112 rs773268270	433	K>R		No	ClinGen ExAC gnomAD
CA8234113 rs555260168	434	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776512358 CA8234114	436	A>T		No	ClinGen ExAC
rs1235556494 CA397081917	436	A>V		No	ClinGen gnomAD
rs1011702939 CA286419614	438	M>T		No	ClinGen TOPMed
rs573686608 CA8234115	439	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758063867 CA8234118	440	R>Q		No	ClinGen ExAC gnomAD
rs553021912 CA8234117	440	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577749423 CA8234119	441	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397081964 rs577749423	441	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397081963 rs577749423	441	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200199040 CA8234120	442	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs763069753 CA286419639	443	E>G		No	ClinGen gnomAD
rs1357535906 CA397081991	444	Q>K		No	ClinGen TOPMed
rs1329153788 CA397082011	445	E>D		No	ClinGen TOPMed gnomAD
rs780734780 CA8234124	445	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397082004 rs780734780	445	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8234126 rs749783312	446	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA397082027 rs1442250152	447	R>Q		No	ClinGen TOPMed gnomAD
CA8234128 rs755342796	447	R>W		No	ClinGen ExAC gnomAD
rs779333410 CA8234130	448	L>P		No	ClinGen ExAC
CA8234132 rs772355366	450	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397082073 rs1597506393	452	E>D		No	ClinGen Ensembl
rs1309417334 CA397082065	452	E>Q		No	ClinGen gnomAD
rs747123592 CA8234134	453	R>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_029165 CA152256 rs3218729 RCV000887229 RCV000116640	456	E>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8234136 rs776599320	456	E>K		No	ClinGen ExAC gnomAD
rs775339367 CA8234138	457	L>P		No	ClinGen ExAC gnomAD
rs145394645 CA397082119	458	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407840826 CA397082113	458	A>T		No	ClinGen gnomAD
CA8234139 rs145394645	458	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8234140 COSM974772 rs763839264	459	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8234141 rs751213474	459	R>H		No	ClinGen ExAC gnomAD
CA8234142 rs751213474	459	R>P		No	ClinGen ExAC gnomAD
CA286419719 rs528610361 RCV001345267	460	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD
CA397082139 rs1431743334	461	L>P		No	ClinGen TOPMed
RCV001341386 rs755500544 CA8234144	462	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8234145 rs748552177	463	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	463	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8234146 rs758722232	464	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747209207 CA8234149	465	F>L		No	ClinGen ExAC TOPMed gnomAD
rs777993968 CA8234148	465	F>S		No	ClinGen ExAC gnomAD
rs1192528404 CA397082166	466	V>A		No	ClinGen TOPMed gnomAD
CA397082163 rs1474244172	466	V>L		No	ClinGen gnomAD
CA8234150 rs771038378	467	S>F		No	ClinGen ExAC gnomAD
CA8234153 rs200652608	468	E>Q	Meier-gorlin syndrome 4 (mgors4) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs141750196 COSM3783001 CA8234154	469	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1405278188 CA397082181	469	R>H		No	ClinGen gnomAD
CA397082186 rs1224404853	470	K>*		No	ClinGen TOPMed
rs1224404853 CA397082185	470	K>E		No	ClinGen TOPMed
CA8234155 rs141663679	471	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375100483 CA397082198	472	A>S		No	ClinGen gnomAD
rs202071237 CA8234156	472	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767196625 CA8234157	473	L>F		No	ClinGen ExAC gnomAD
rs1235287735 CA397082212	474	S>G		No	ClinGen gnomAD
CA397082239 rs1345848507	475	M>I		No	ClinGen TOPMed
CA8234158 rs749966576	475	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1282483155 CA397082232	475	M>V		No	ClinGen TOPMed gnomAD
CA8234160 rs760038187	477	V>E		No	ClinGen ExAC gnomAD
CA397082280 rs1456300167	478	A>T		No	ClinGen TOPMed
CA8234161 rs765805425	478	A>V		No	ClinGen ExAC gnomAD
RCV000224778 CA10581298 rs758810157	479	C>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8234163 rs758810157	479	C>S		No	ClinGen ExAC gnomAD
rs1475981587 CA397082317	480	A>V		No	ClinGen TOPMed gnomAD
CA8234164 rs778080229	481	R>K		No	ClinGen ExAC gnomAD
CA397082364 rs1210404381	482	M>I		No	ClinGen TOPMed
CA286419817 rs760114445	482	M>T		No	ClinGen Ensembl
CA8234166 rs757456654	482	M>V		No	ClinGen ExAC gnomAD
rs1597506511 CA397082388	483	V>G		No	ClinGen Ensembl
CA397082384 rs1159674532	483	V>M		No	ClinGen gnomAD
CA397082434 rs1418258076	487	C>F		No	ClinGen gnomAD
rs745962041 CA8234168	488	T>I		No	ClinGen ExAC gnomAD
rs550557201 CA8234170	489	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8234172 rs749210361	490	M>I		No	ClinGen ExAC gnomAD
rs1480590104 CA397082456	490	M>L		No	ClinGen TOPMed
CA8234171 rs147704737	490	M>T		No	ClinGen ESP ExAC gnomAD
rs146199695 CA8234174	491	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000500308 CA8234173 RCV000884097 rs146199695	491	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1278893342 CA397082481	492	P>R		No	ClinGen gnomAD
rs1339976168 CA397082479	492	P>S		No	ClinGen TOPMed gnomAD
CA8234214 rs755069633	493	G>E		No	ClinGen ExAC gnomAD
CA397082486 rs1239803972	493	G>R		No	ClinGen gnomAD
CA397082830 rs1274359783	494	E>K		No	ClinGen gnomAD
CA8234215 rs779016173	495	M>I		No	ClinGen ExAC gnomAD
rs1208488728 CA397082935	497	K>N		No	ClinGen TOPMed gnomAD
rs1597506969 CA397082945	498	H>P		No	ClinGen Ensembl
rs1567503092 CA397083032	502	L>F		No	ClinGen Ensembl
rs147828044 CA8234217 RCV000898267	503	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8234220 rs548414653	504	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8234219 rs548414653	504	E>Q		No	ClinGen ExAC gnomAD
rs745410073 CA8234221	506	L>P		No	ClinGen ExAC gnomAD
CA8234222 rs528354191	507	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8234223 rs762191927	508	D>E		No	ClinGen ExAC TOPMed gnomAD
rs773464198 CA8234225	511	S>R		No	ClinGen ExAC gnomAD
CA8234226 rs761038298	513	H>Y		No	ClinGen ExAC gnomAD
CA8234227 rs766544551	514	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754064981 CA8234228	514	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754064981 COSM974776 CA397083284	514	R>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8234229 rs755157588	515	I>V		No	ClinGen ExAC TOPMed gnomAD
rs144721725 CA8234230 RCV000502918 RCV000923169	516	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138633544 CA8234231	516	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397083315 rs144721725	516	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397083336 rs1219971869	517	T>A		No	ClinGen gnomAD
CA8234232 rs377348553	517	T>S		No	ClinGen ESP ExAC gnomAD
CA397083388 rs1261380989	518	D>G		No	ClinGen gnomAD
CA8234235 rs751315293	518	D>H		No	ClinGen ExAC TOPMed gnomAD
rs751315293 CA8234234 RCV000502083 RCV001369377	518	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	519	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780840816 CA8234236	519	T>A		No	ClinGen ExAC gnomAD
rs1256353645 CA397083415	519	T>S		No	ClinGen TOPMed
CA8234238 rs769331060	521	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8234239 rs769331060	521	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748777018 CA397083468	522	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1448295739 CA397083471	523	L>V		No	ClinGen TOPMed
rs773732420 CA8234242	524	D>V		No	ClinGen ExAC gnomAD
rs771401327 CA8234244	525	K>E		No	ClinGen ExAC gnomAD
CA397083570 rs752730813	527	A>E		No	ClinGen ExAC TOPMed gnomAD
rs759835025 CA8234247	527	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8234246 rs759835025	527	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752730813 CA8234248	527	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8234250 rs370820926	528	D>A		No	ClinGen ESP ExAC gnomAD
rs763968687 CA8234249	528	D>Y		No	ClinGen ExAC gnomAD
rs755779499 CA8234253	530	A>D		No	ClinGen ExAC gnomAD
CA8234252 rs373841167	530	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	531	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779617525 CA397083715	532	I>F		No	ClinGen ExAC gnomAD
rs779617525 CA8234254	532	I>V		No	ClinGen ExAC gnomAD
rs369515837 CA8234257	534	A>T		No	ClinGen ESP ExAC gnomAD
rs186133926 CA8234258	534	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548156534 CA8234259	535	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8234260 rs75595603	535	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759920771 CA8234261	536	L>M		No	ClinGen ExAC gnomAD
CA8234262 rs770144607	536	L>Q		No	ClinGen ExAC
CA8234263 rs373683170	537	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000116646 CA152268 VAR_024408 rs3218721 RCV001523134	537	A>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397083889 rs991922059	538	H>Q		No	ClinGen TOPMed
CA8234265 rs751488980	538	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1446661979 CA397083899	539	Q>E		No	ClinGen gnomAD
rs1298235721 CA397083925	539	Q>H		No	ClinGen gnomAD
CA397083937 rs1378352387	540	T>A		No	ClinGen TOPMed gnomAD
rs1449609178 CA397083978	541	R>C		No	ClinGen TOPMed gnomAD
rs558748090 CA8234267	541	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558748090 CA8234266	541	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397083987 rs558748090	541	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1389853308 CA397083997	542	A>D		No	ClinGen gnomAD
CA397083991 rs1159722111	542	A>T		No	ClinGen TOPMed
CA397084033 rs1181241390	544	E>*		No	ClinGen TOPMed
rs556429460 CA8234270 CA8234271	544	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA230990 rs144843732 RCV000116634	544	E>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA286420565 rs887449934	545	G>E		No	ClinGen Ensembl
rs941632720 CA286420578	546	L>P		No	ClinGen gnomAD
rs1324137708 CA397084154	547	L>W		No	ClinGen gnomAD

1 associated diseases with Q9H211

[MIM: 613804]: Meier-Gorlin syndrome 4 (MGORS4)

A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9H211

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H211

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome, centromere, kinetochore	Transiently localizes to kinetochores during prometaphase and metaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA polymerase binding	Binding to a DNA polymerase.

21 GO annotations of biological process

Name	Definition
attachment of mitotic spindle microtubules to kinetochore	The cell cycle process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex as part of mitotic metaphase plate congression.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
deactivation of mitotic spindle assembly checkpoint	A positive regulation of the mitotic metaphase/anaphase transition that results from deactivation of the mitotic spindle assembly checkpoint.
DNA replication checkpoint signaling	A signal transduction process that contributes to a DNA replication checkpoint, that prevents the initiation of nuclear division until DNA replication is complete, thereby ensuring that progeny inherit a full complement of the genome.
DNA replication preinitiation complex assembly	The aggregation, arrangement and bonding together of a set of components to form the DNA replication preinitiation complex, a protein-DNA complex that is assembled at DNA replication origins immediately prior to the initiation of DNA replication. The complex consists of proteins that initiate the DNA binding, melt the helix and enable helicase activity.
kinetochore organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
negative regulation of cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.
negative regulation of DNA-templated DNA replication	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA-dependent DNA replication.
negative regulation of protein localization to kinetochore	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to kinetochore.
positive regulation of chromatin binding	Any process that increases the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
positive regulation of DNA replication	Any process that activates or increases the frequency, rate or extent of DNA replication.
positive regulation of DNA-templated DNA replication	Any process that activates or increases the frequency, rate or extent of DNA-templated DNA replication.
positive regulation of protein localization to kinetochore	Any process that activates or increases the frequency, rate or extent of protein localization to kinetochore.
positive regulation of protein-containing complex assembly	Any process that activates or increases the frequency, rate or extent of protein complex assembly.
regulation of chromosome organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome.
regulation of DNA replication origin binding	Any process that modulates the frequency, rate or extent of DNA replication origin binding.
regulation of DNA-templated DNA replication initiation	Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase.
regulation of nuclear cell cycle DNA replication	Any process that modulates the frequency, rate or extent of The DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle.
response to sorbitol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sorbitol stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8R4E9	Cdt1	DNA replication factor Cdt1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEQRRVTDFF	ARRRPGPPRI	APPKLACRTP	SPARPALRAP	ASATSGSRKR	ARPPAAPGRD
70	80	90	100	110	120
QARPPARRRL	RLSVDEVSSP	STPEAPDIPA	CPSPGQKIKK	STPAAGQPPH	LTSAQDQDTI
130	140	150	160	170	180
SELASCLQRA	RELGARVRAL	KASAQDAGES	CTPEAEGRPE	EPCGEKAPAY	QRFHALAQPG
190	200	210	220	230	240
LPGLVLPYKY	QVLAEMFRSM	DTIVGMLHNR	SETPTFAKVQ	RGVQDMMRRR	FEECNVGQIK
250	260	270	280	290	300
TVYPASYRFR	QERSVPTFKD	GTRRSDYQLT	IEPLLEQEAD	GAAPQLTASR	LLQRRQIFSQ
310	320	330	340	350	360
KLVEHVKEHH	KAFLASLSPA	MVVPEDQLTR	WHPRFNVDEV	PDIEPAALPQ	PPATEKLTTA
370	380	390	400	410	420
QEVLARARNL	ISPRMEKALS	QLALRSAAPS	SPGSPRPALP	ATPPATPPAA	SPSALKGVSQ
430	440	450	460	470	480
DLLERIRAKE	AQKQLAQMTR	CPEQEQRLQR	LERLPELARV	LRSVFVSERK	PALSMEVACA
490	500	510	520	530	540
RMVGSCCTIM	SPGEMEKHLL	LLSELLPDWL	SLHRIRTDTY	VKLDKAADLA	HITARLAHQT

RAEEGL