AiPD: Autoinhibited Protein Database

Q02846

Gene name	GUCY2D
Protein name	Retinal guanylyl cyclase 1
Names	RETGC-1, CG-E, Guanylate cyclase 2D, retinal, Rod outer segment membrane guanylate cyclase, ROS-GC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3000
EC number	4.6.1.2: Phosphorus-oxygen lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

179-252 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

179-252 (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

1 structures for Q02846

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q02846-F1	Predicted				AlphaFoldDB

1208 variants for Q02846

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001250812 RCV000084899 RCV000084898 rs281865409 RCV001250813 RCV001388964	1	M>I	Leber congenital amaurosis 1 Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs281865408 RCV001250811 RCV000084880	1	M>K	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001205998 rs1975657312	5	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001198127 rs1975658549	14	P>A	Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinVar dbSNP
rs1008930073 CA287522837 RCV001201774 RCV002484079	17	C>R	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs63749076 RCV001250819 RCV000084900	18	G>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001518411 RCV000084902 rs9905402 CA145844 VAR_067168 RCV000078320	21	W>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397942558 rs1308509257 RCV001234701	22	W>*	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8365468 RCV001082983 RCV000787615 rs557108466 RCV000512972	25	S>F	Cone-rod dystrophy 6 Progressive cone dystrophy (without rod involvement) [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002513910 rs61749663 RCV001250872 RCV000084905	31	R>missing	Leber congenital amaurosis 1 Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs755150485 CA8365469 RCV001327133 RCV002546213	33	L>Q	Cone-rod dystrophy 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748156659 RCV001209241	35	R>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA226039 RCV000084829 RCV002477248 RCV001227542 RCV002466425 rs61749664	41	L>F	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000415795 RCV001199370 RCV000784899 RCV000414862 RCV001352942 rs552184470 RCV001081143 RCV000989733	44	L>missing	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinVar dbSNP
rs1567956946 RCV001267881	49	A>P	Leber congenital amaurosis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs771232307 RCV001041694 CA8365475	49	A>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000078318 rs61749665 RCV000084835 RCV002225071 VAR_003435 CA145842 RCV002490349 RCV001518075 RCV000009947	52	A>S	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1 (lca1) LCA1; unknown pathological significance [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000132567 RCV001725998 CA232809 VAR_067169 RCV001079675 rs201414567 RCV000989734	55	T>M	Cone-rod dystrophy 6 LCA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1975665345 RCV001250820	60	G>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA8365481 RCV001295859 rs761828482	63	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001211560 rs1328542671 CA397942963	69	S>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001250874 rs750153057 RCV003130233	73	P>L	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs281865410 RCV001250821 RCV000084855	76	A>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA287523070 RCV001294695 rs558294899	78	R>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1975666989 RCV001325354	78	R>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001783004 rs952193754 RCV000504622	80	A>missing	Cone dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001347373 rs952193754	80	A>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001313247 CA397943070 rs1300514080	88	P>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002056936 rs573367793 RCV000175541 CA241298	91	A>P	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1304984076 CA397943137 RCV001201484	99	A>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1304984076 RCV001297954 CA397943135	99	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000505073 RCV001250822 CA226122 RCV001053255 RCV000084885 rs61749668	103	E>K	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) Cone dystrophy [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_067170	103	E>V	LCA1 [UniProt]	Yes	UniProt
VAR_023770 CA226132 RCV000084890 rs61749669	105	C>Y	LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000762200 RCV002061033 CA397943215 rs1445892049	113	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs562248093 RCV001462580 RCV001073713 CA8365493	115	S>P	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1975671628 RCV001071365	120	R>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV002516252 RCV000225589 CA10581703 rs878853343	127	P>L	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs63340060 RCV000084896 CA226141 RCV001250823	129	N>K	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000084897 RCV000009945 RCV000693446 rs61749670 RCV002498447 RCV001003037	130	P>missing	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis [ClinVar]	Yes	ClinVar dbSNP
rs776276813 RCV001306568 CA8365494	140	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001212926 rs1975674167	144	G>V	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975675766 RCV001250824	168	A>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs978982123 RCV001244132 CA287523303	174	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA397944105 rs1403798841 RCV001250863	181	W>*	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001250869 rs1975678842	189	A>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001092404 rs375259185 RCV001873455 CA8365510	189	A>V	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001208175 CA397944247 rs1484809146	190	P>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000732853 RCV001592935 rs768390959 CA8365511	191	Q>*	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8365514 rs528169554 RCV001068385	192	D>E	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs917296356 RCV001228532 CA397944401	199	R>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001250825 rs1370721862	199	R>P	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA287523361 RCV002564085 RCV001244255 rs917296356	199	R>S	Cone-rod dystrophy 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001308907 rs1975680506	203	T>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs764280512 RCV001240450 CA8365519	205	L>F	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61749671 RCV000084903 RCV000009946	208	R>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA397944547 rs765369504 RCV001302195	208	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel RCV000533934 CA8365536 rs181800610	232	K>N	Cone-rod dystrophy 6 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD NCI-TCGA
rs1975686657 RCV002570446 RCV001250826	242	V>G	Leber congenital amaurosis 1 Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001065469 rs141956583 CA8365560	244	M>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001250815 CA8365563 rs768206746	247	H>R	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs138922415 CA397945069 RCV001250878	248	S>L	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000799716 rs1243270832 CA397945084	251	L>P	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs745444949 RCV001040109	263	A>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
COSM179949 CA397945172 rs1346762413 RCV001318652	265	E>K	Cone-rod dystrophy 6 large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs143745703 RCV000624057 RCV001075746 CA8365581	283	Y>*	Retinal dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
RCV000504837 rs1555634713	301	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000796233 rs1598144694	305	H>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001230310 rs1975693728	309	L>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975693830 RCV001352963	310	T>N	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_067171 rs61749673 RCV001250818 CA226155 RCV000084906	312	T>M	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) LCA1 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001250827 RCV000084907 CA226156 rs61749674 RCV001306870	313	R>C	Leber congenital amaurosis 1 Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000084908 CA226158 rs61749675 VAR_023771	325	L>P	LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_049254 RCV001065966 CA8365609 rs34596269	331	R>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001250828 rs755999834	333	E>*	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs368799458 CA8365613 RCV001760344 RCV001298220	341	Q>K	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8365635 RCV001307489 rs768812125	344	S>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1372180006 CA397947621 RCV001319319	346	L>H	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000505564 rs763890649	347	F>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001377421 rs61749676 CA226036 RCV001250829 RCV000084827	351	Y>C	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002482003 RCV001055559 rs186508466 CA8365647	361	V>M	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61749677 VAR_009129 CA226038 RCV000084828	362	A>S	LCA1 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001201551 CA8365650 rs141917297	365	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001083929 rs138836357 CA245079 RCV000989735 RCV000487602 RCV001001148	365	R>W	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001078901 CA8365663 RCV000756220 rs775105018	380	R>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs373827556 CA287524693 RCV001297488	383	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs545271894 CA8365665 RCV001040345	383	R>W	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1301307214 RCV001244020 CA397947849	385	A>V	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs755223158 CA8365670 RCV000983924	387	V>D	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001250877 rs1975743813	404	L>P	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_067173	405	L>PN	LCA1 [UniProt]	Yes	UniProt
rs377650196 RCV001250875	407	T>K	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs377650196 RCV001331046	407	T>R	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001204647 rs773030462 CA8365687	410	A>V	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001306339 rs1253086014 CA397948037	413	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1598146173 RCV000989736 RCV001858713	415	F>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8365694 rs202111469 CA8365695 RCV001232330	419	M>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
CA8365696 RCV001318877 rs375468242	425	G>A	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001227623 CA8365701 rs769749617	433	R>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_067174 rs565948960 RCV001301956 CA8365706	438	R>C	Cone-rod dystrophy 6 LCA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8365708 RCV001078961 RCV000415352 RCV000487886 rs140638938 CA8365709 RCV001198299	439	G>R	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV001855624 CA287524991 rs1029006549 RCV001796769 RCV000678574	447	P>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61749679 RCV000989737 RCV000084831 RCV001037164 CA226043 RCV001250830	448	S>*	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8365715 RCV001313431 rs61749679	448	S>L	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1567958644 RCV000761438	464	G>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000787611 rs1598146589	482	F>missing	Leber congenital amaurosis [ClinVar]	Yes	ClinVar dbSNP
RCV001317435 CA8365771 COSM708679 rs753488664	490	R>Q	lung Cone-rod dystrophy 6 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA8365777 rs751263915 RCV001316215	499	G>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200211315 RCV000179270 RCV001051919 CA246543	500	P>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1975767998 RCV001320629	501	N>D	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8365781 rs746002871 RCV001213710 VAR_042231	507	V>M	Cone-rod dystrophy 6 Variant assessed as Somatic; 9.259e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1975768901 RCV001250864	511	T>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA226047 RCV000356487 RCV001084922 rs61749682 RCV000084834	513	L>F	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1975769511 RCV001247689	515	P>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8365790 RCV001229951 rs549834851	519	T>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000791170 rs748798324 RCV000791168 RCV000791169 CA287525681	521	R>*	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001068217 rs1168076308	525	Q>*	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975777337 RCV001347399	526	G>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA397949593 rs1349155167 RCV001235694	528	R>*	Cone-rod dystrophy 6 (cord6) Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [Ensembl, NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001351399 CA8365826 rs759173115	536	M>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs61749754 RCV001854485 RCV000084838 CA226052	540	R>C	Cone-rod dystrophy 6 (cord6) Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [Ensembl, NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001242493 CA8365829 rs146570135	542	G>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1290420698 RCV000850097 CA397949792 RCV000850098	545	Q>*	Leber congenital amaurosis 1 Night blindness, congenital stationary, type1i Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001060452 rs1975779836	554	V>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000989738 RCV001070091 RCV001003038 RCV002488082 rs188568530 CA8365854	558	D>N	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA226054 rs61749755 RCV000009944 RCV000084839 VAR_009131	565	F>S	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) LCA1; loss of activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001298771 CA8365858 rs568220391	569	Q>H	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen 1000Genomes ExAC gnomAD ClinVar dbSNP
VAR_009130 rs61749756 CA226055 RCV001047568 RCV000084840	573	I>V	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 LCA1 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA228867 RCV001306268 rs137853897 RCV000086930 COSM1209214	574	R>C	Cone-rod dystrophy 6 (cord6) Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 large_intestine [Ensembl, NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000585088 COSM1253916 RCV001314273 rs560270873 CA8365861	574	R>H	Cone-rod dystrophy 6 oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV002477249 CA203556 RCV000180103 rs28743021 RCV001086101 RCV000084841	575	P>L	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8365892 RCV001297585 rs765906787	586	E>D	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA397951195 RCV001230443 rs1380583409	588	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs794727952 RCV000180468 RCV001526721 RCV001852248	591	N>missing	Leber congenital amaurosis 1 Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975862803 RCV001250831	591	N>D	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002462918 CA8365903 rs770740012 VAR_049255 RCV001303191	602	R>W	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs63749078 RCV000084842 RCV001250832	604	A>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA397951401 RCV001064042 rs1451847992	606	G>D	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA287530897 rs1009884304 RCV001240211	609	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001322331 CA8365912 rs779224998	610	L>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001207903 rs1975865453	614	N>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001301472 rs767258249 CA8365917	618	V>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs746020263 RCV001230117 CA8365923	624	R>Q	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001070563 CA8365922 rs757230483	624	R>W	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001075480 rs1336876328 CA397951662	626	S>C	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA8365928 RCV001295013 rs770016889	629	D>E	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001295348 CA8365933 rs759957436	634	R>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001212854 rs1975867670	635	E>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
VAR_067175	640	W>L	LCA1 [UniProt]	Yes	UniProt
RCV001250833 rs1975868246	642	F>V	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001251456 rs1975868606	646	L>P	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1975868797 RCV001250868	648	L>P	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs750399947 CA8365958 RCV001075637	655	R>K	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1975872237 RCV001197250	658	H>Q	Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinVar dbSNP
CA397952078 RCV000989740 rs1598149154	658	H>Y	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA226062 RCV001047937 rs61750161 RCV001250870 RCV000084847	660	R>*	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
VAR_067176 RCV000084848 RCV001047346 CA226064 rs61750162	660	R>Q	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 LCA1 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs143585840 RCV002489567 RCV001040770 COSM3388287 CA8365962 RCV002250718	662	V>M	Cone-rod dystrophy 6 pancreas Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001003039 rs1598149187 CA397952164	664	H>Q	Leber congenital amaurosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001760043 rs757387072 CA8365964 RCV001067287	666	R>W	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001250834 rs931906767 CA287531201	670	R>W	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1975873821 RCV001342326	672	C>Y	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8365976 rs766482364 RCV001304543	686	G>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002486139 CA8365977 RCV001297715 RCV003166665 rs751340355	687	H>Y	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8365988 RCV002539486 rs200128473 RCV001301851	698	P>R	Cone-rod dystrophy 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000173653 RCV001250835 RCV002498446 rs34598902 RCV000084851 CA200657 VAR_009132 RCV001518412	701	P>S	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1 (lca1) at homozygosity may be associated with Leber congenital amaurosis in some populations [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001231431 CA8365991 rs577880164	703	A>V	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA16621700 RCV001360599 RCV000488275 rs1064797217	708	W>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_082624 rs781725943 RCV001003040 CA287531867	710	A>V	Leber congenital amaurosis LCA1; loss of basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001306871 rs765463082 CA8366018 RCV001250836	711	P>L	Leber congenital amaurosis 1 Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
VAR_049256 RCV000945910 rs34331388 RCV001811545 CA8366030	722	R>W	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001057559 RCV001585958 CA8366032 rs561318435	724	T>M	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1975890613 RCV001250837	726	A>V	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs146820642 RCV002497460 RCV001065277 RCV001700693 CA8366036	727	G>S	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_067177	728	D>H	LCA1 [UniProt]	Yes	UniProt
RCV001074405 rs766646217 CA8366038 RCV001862558	728	D>N	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_067178	734	I>A	LCA1; requires 2 nucleotide substitutions [UniProt]	Yes	UniProt
rs1975891409 RCV001228156	735	I>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001063561 rs532577225 CA8366045	742	R>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000787612 rs1598149659	745	P>missing	Leber congenital amaurosis [ClinVar]	Yes	ClinVar dbSNP
RCV001206653 rs747951577 COSM2804621 CA8366054	754	E>K	Cone-rod dystrophy 6 breast Variant assessed as Somatic; 4.654e-05 impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM176434 RCV002290577 CA8366077 RCV001059685 rs200637525	761	R>W	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 large_intestine Night blindness, congenital stationary, type1i [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001232110 rs1975906957	764	P>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8366083 RCV000678575 RCV001784301 RCV001003041 rs750889782	768	R>Q	Leber congenital amaurosis 1 Leber congenital amaurosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000084856 RCV000850094 RCV000543628 VAR_067179 rs61750168 RCV001075745 RCV002477250 CA226075 RCV000850093 RCV000787613	768	R>W	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i Leber congenital amaurosis Leber congenital amaurosis 1 (lca1) Retinal dystrophy LCA1 and CSNB1I [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002504353 rs143650826 RCV001244625 CA8366085	773	M>T	Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8366087 RCV001337358 CA397953178 rs368384232	775	Q>H	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV001250838 rs1975909279	780	C>R	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000248393 RCV001701716 rs8069344 CA8366093 RCV001702378 RCV001651111 RCV001702377 RCV001517915 RCV000989741 VAR_009133	782	L>H	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Night blindness, congenital stationary, type1i [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397953230 rs375010731 VAR_067180	784	M>R	LCA1 [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs368958527 CA8366096 RCV001352537	787	C>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1555635668 RCV000558435	793	E>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_067181 rs61750171 RCV000732735 RCV001250839 CA8366103	795	R>Q	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) LCA1 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1975911358 RCV001250840	798	M>R	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001208974 rs1975911430	800	H>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1196292120 RCV000816166 CA397953427	811	G>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001212256 rs894774212 CA287532908	812	R>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1477300555 CA397953440 RCV001346183	813	K>N	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8366134 RCV001347446 rs150742659	814	T>M	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA397953494 RCV001074530 rs1325253963	821	L>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA220457 RCV000078319 RCV002514374 rs398123233	822	R>P	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1975925661 RCV001240710	827	Y>C	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001074379 RCV001862557 rs1975925973	831	L>P	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001337669 rs1975926150	832	E>K	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001319485 rs145420245 CA8366142	836	R>W	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000009950 RCV000009948 RCV000084860 VAR_003436 CA226082 rs28933695	837	E>D	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 CORD6 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_003438	837	E>DCM	CORD6 [UniProt]	Yes	UniProt
RCV000084862 RCV001197374 RCV001074299 rs61750172 RCV000009950 RCV001376215 RCV001003042 RCV001065465 CA226085 RCV000009949 VAR_003437	838	R>C	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1 (lca1) Variant assessed as Somatic; 4.621e-05 impact. Retinal dystrophy Cone dystrophy CORD6 [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
VAR_071605	838	R>G	CORD6 [UniProt]	Yes	UniProt
VAR_015373 RCV000504851 RCV000787614 CA226086 RCV001723556 COSM1387554 RCV001003043 RCV001271114 RCV000084863 RCV000009951 rs61750173 RCV001228516	838	R>H	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Retinitis pigmentosa large_intestine Variant assessed as Somatic; impact. Progressive cone dystrophy (without rod involvement) Cone dystrophy Retinal dystrophy Retinitis pigmentosa (rp) CORD6 [Ensembl, ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA397953618 RCV001002057 RCV001869428 RCV001075542 rs61750173 VAR_071606	838	R>P	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Retinal dystrophy Retinitis pigmentosa (rp) CORD6 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs61750172 RCV001854486 RCV000084861 CA226083 RCV000009948	838	R>S	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001207599 rs756044745	839	T>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs61750174 RCV000009950 RCV000084864 RCV001239266 CA226087	839	T>M	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs61750174 CA8366146 RCV000786870 RCV001341059	839	T>R	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV002568711 CA397953660 RCV001250841 rs1341592819	841	E>*	GUCY2D retinopathy Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1341592819 RCV001003044 VAR_082625 CA397953656	841	E>K	CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV001074834 rs1975927557	842	L>P	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA287533068 RCV001879809 rs962715477 RCV001250842	844	L>P	Leber congenital amaurosis 1 Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA397953725 rs1598150539 VAR_082626 RCV002267758 RCV001860527	846	K>N	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 Cone-rod dystrophy CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_071607	849	T>A	CORD6 [UniProt]	Yes	UniProt
RCV000700865 rs1555635778 RCV000593037 RCV000989742 CA397953824	855	Q>*	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61750176 CA226091 VAR_009134 RCV000084866	858	P>S	LCA1; severely impairs basal and GUCA1A-induced guanylate cyclase activity [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs61750176 RCV001316865 CA287533114	858	P>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001229728 rs374515716 CA8366156	859	P>L	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001068218 rs1200134985	866	K>missing	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001250816 CA8366175 RCV000556412 rs201587670 RCV000989743	866	K>N	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs375727197 RCV001348130 CA287533246	867	T>K	Cone-rod dystrophy 6 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002250683 CA397953944 RCV002267739 RCV001074400 VAR_082627 rs1567961680 RCV000697191	873	P>R	Cone-rod dystrophy 6 Night blindness, congenital stationary, type1i Cone-rod dystrophy Retinal dystrophy CORD6; loss basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002248709 RCV001047394 CA16620650 RCV000481166 rs1001538483	874	E>K	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs762981013 RCV001250871 CA8366181	876	F>S	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1598150748 RCV001262104	883	F>missing	Leber congenital amaurosis [ClinVar]	Yes	ClinVar dbSNP
RCV001250844 CA287533283 rs573270795	887	V>G	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1975935914 RCV001270353	902	V>A	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA397954140 VAR_082628 rs1598150793 RCV002267759	902	V>L	Cone-rod dystrophy LCA1; increases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001073425 rs1975936032 RCV001862804	903	D>Y	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA397954171 COSM1709767 RCV001074002 rs1314298060	907	D>N	Variant assessed as Somatic; 0.0 impact. skin Retinal dystrophy [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000714546 CA287533367 RCV000714547 RCV000714545 rs1006935198	922	Y>*	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001327208 rs1975943872	927	I>V	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975943992 RCV001250846	928	G>A	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA397954359 VAR_080484 RCV000755725 rs1567961904	933	V>A	Choroidal dystrophy, central areolar, 1 CACD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000084870 RCV001250847 CA226097 rs61750179	934	A>P	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001171921 RCV002558725 rs1975945188	938	P>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
CA8366238 RCV001063536 rs756575304	944	R>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61750180 RCV001052013 RCV001542698	946	A>E	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001250860 rs1975945845	946	A>S	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1975945845 RCV001250848	946	A>T	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_071608 rs267606857 CA250578 RCV000009953	949	I>T	Cone-rod dystrophy 6 (cord6) Cone-rod dystrophy 6 CORD6 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1306952187 CA397954597 RCV001250849	950	A>T	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000084872 CA226101 rs61750181 RCV001250881	950	A>V	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
CA226103 VAR_009135 RCV002514512 rs61750182 RCV000084873 RCV001075835	954	L>P	Cone-rod dystrophy 6 Retinal dystrophy LCA1; severely impairs basal and GUCA1A induced guanylate cyclase [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001074581 rs780072959 CA397954661	954	L>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
CA8366245 rs768417052 RCV001312864	959	A>T	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001250883 RCV001857414 RCV001073966 RCV000084874 rs61750183	967	H>missing	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001208607 rs1975948376	968	M>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs181567056 RCV000921018 CA8366252 CA397954917	973	V>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776083430 RCV000174835 CA240433 RCV002516648	974	R>H	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001074931 rs1975949139	976	R>C	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000714548 CA226107 RCV000084876 rs61750184 RCV000714550 RCV000714549	976	R>L	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Choroidal dystrophy, central areolar, 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8366258 RCV001250879 rs764954235	980	H>L	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1975956164 RCV001067300	984	C>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000985051 rs1598151437	993	M>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs61750187 COSM1679541 RCV001250866 RCV000084879 CA226112	995	R>W	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) haematopoietic_and_lymphoid_tissue [ClinVar, Ensembl, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1975957350 RCV001056225	996	Y>*	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1975957618 RCV001250852	999	F>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000989744 rs1598151461 CA397955289	1000	G>E	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs150185423 RCV001053306 CA8366279	1005	T>I	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_067182	1007	S>L	LCA1 [UniProt]	Yes	UniProt
RCV001075091 RCV000084881 RCV001250853 CA287534181 CA226116 RCV003156316 rs61750188	1009	M>L	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) Retinal dystrophy [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs868612148 CA287534219 RCV001250854 RCV001879810	1013	G>R	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA397955568 rs1429807175 RCV001250856	1019	H>P	Leber congenital amaurosis 1 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
CA287534419 rs866511152 RCV001071718	1022	L>*	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000084884 rs281865411 RCV001250857	1027	I>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_067183	1027	I>IGI	LCA1 [UniProt]	Yes	UniProt
RCV001083338 rs146149224 RCV000585411 CA240817	1033	S>L	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555635925 RCV000504680	1034	G>missing	Leber congenital amaurosis [ClinVar]	Yes	ClinVar dbSNP
RCV001342599 rs61750192	1036	Q>K	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV002514513 RCV001250858 RCV000084889 rs61750194 CA226130	1040	R>*	Leber congenital amaurosis 1 Cone-rod dystrophy 6 Leber congenital amaurosis 1 (lca1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001349545 rs1975964730	1041	G>D	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001250873 rs1975971228	1055	W>G	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs878853342 RCV000225447 CA10581704	1059	R>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs878853342 RCV001320637 CA287534825	1059	R>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs62641254 RCV001075612 RCV001360160 RCV000084891 CA226133	1061	G>S	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001231078 rs1975972260	1063	N>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001250859 rs1975973086	1071	D>missing	Early-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001250880 rs1374426388	1074	P>missing	Leber congenital amaurosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001346709 rs138869083 CA8366341	1074	P>S	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001250817 RCV000055776 rs386834239	1079	H>missing	Leber congenital amaurosis 1 Early-onset retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs371919912 CA8366364 RCV001240481	1080	G>R	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs779735498 RCV002546881 CA287535299 RCV001339738	1089	E>K	Cone-rod dystrophy 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs769818541 RCV001388270 RCV001073763 CA8366374	1091	R>*	Cone-rod dystrophy 6 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001230358 RCV002563182 CA287535371 rs746525316	1092	R>W	Cone-rod dystrophy 6 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001325775 rs776624188	1098	R>G	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinVar dbSNP
rs776624188 RCV001213703 CA8366382	1098	R>W	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	2	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764072081 CA8365465	4	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA397942339 rs1485169567	8	A>V		No	ClinGen TOPMed
CA397942355 rs1262404909	9	G>V		No	ClinGen gnomAD
CA397942368 rs1426615803	10	G>A		No	ClinGen gnomAD
CA397942394 rs1421146833	12	P>L		No	ClinGen gnomAD
CA397942387 rs1211177711	12	P>S		No	ClinGen TOPMed
CA397942410 rs1373473769	13	D>G		No	ClinGen gnomAD
rs954746846 CA287522833	15	G>R		No	ClinGen TOPMed
rs1230201505 CA397942444	15	G>V		No	ClinGen TOPMed
rs1008930073 CA287522840	17	C>S		No	ClinGen TOPMed gnomAD
CA8365467 rs757041611	17	C>Y		No	ClinGen ExAC gnomAD
rs1405042954 CA397942491	18	G>D		No	ClinGen gnomAD
rs1598143702 CA397942505	19	P>L		No	ClinGen Ensembl
rs1340479662 CA397942520	20	A>G		No	ClinGen TOPMed gnomAD
rs1017601312 CA287522888	20	A>S		No	ClinGen Ensembl
rs1340479662 CA397942523	20	A>V		No	ClinGen TOPMed gnomAD
CA287522907 rs926004217	21	W>*		No	ClinGen TOPMed gnomAD
CA397942575 rs1244515419	23	A>S		No	ClinGen gnomAD
rs1438692183 CA397942597	24	P>L		No	ClinGen gnomAD
CA397942647 rs1391079477	28	R>C		No	ClinGen TOPMed
TCGA novel	28	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	31	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397942692 rs1484916911	31	R>Q		No	ClinGen gnomAD
CA397942690 rs1285350603	31	R>W		No	ClinGen gnomAD
rs781514479 CA8365470	34	P>H		No	ClinGen ExAC TOPMed gnomAD
CA397942742 rs1423033093	35	R>G		No	ClinGen TOPMed gnomAD
rs748156659 CA8365471	35	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1423033093 CA397942743	35	R>W		No	ClinGen TOPMed gnomAD
rs1424853491 CA397942771	37	P>Q		No	ClinGen gnomAD
rs1342972910 CA397942776	38	L>F		No	ClinGen gnomAD
CA397942783 rs1316383527	39	L>P		No	ClinGen gnomAD
CA397942793 rs1363193636	41	L>P		No	ClinGen gnomAD
CA397942798 rs1201747201	42	L>P		No	ClinGen TOPMed
rs1323015516 CA397942802	43	L>F		No	ClinGen TOPMed
CA397942811 rs1247045218	45	L>M		No	ClinGen gnomAD
CA397942816 rs1315271539	46	Q>K		No	ClinGen gnomAD
rs1014118881 CA287522942	47	P>L		No	ClinGen TOPMed gnomAD
rs1217957096 CA397942824	47	P>S		No	ClinGen gnomAD
CA397942832 rs1244784258	48	P>H		No	ClinGen TOPMed gnomAD
rs1201566039 CA397942831	48	P>S		No	ClinGen gnomAD
CA8365476 rs774688311	49	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760016257 CA8365477	50	L>I		No	ClinGen ExAC gnomAD
rs1159129390 CA397942845	51	S>P		No	ClinGen TOPMed gnomAD
CA397942847 rs1346332643	51	S>Y		No	ClinGen gnomAD
CA397942856 rs1408825341	53	V>L		No	ClinGen gnomAD
CA397942862 rs1453829975	54	F>L		No	ClinGen gnomAD
rs1279191901 CA397942868 CA397942867	54	F>L		No	ClinGen gnomAD
rs1307739817 CA397942875	56	V>L		No	ClinGen gnomAD
rs1307739817 CA397942874	56	V>M		No	ClinGen gnomAD
CA397942885 rs1264909187	57	G>V		No	ClinGen gnomAD
rs1221661127 CA397942881	57	G>W		No	ClinGen gnomAD
CA397942897 rs763697863	60	G>C		No	ClinGen ExAC gnomAD
rs763697863 CA8365479	60	G>S		No	ClinGen ExAC gnomAD
rs1423907063 CA397942908	62	W>R		No	ClinGen gnomAD
rs1431996173 CA397942940	66	P>S		No	ClinGen TOPMed gnomAD
rs1175145821 CA397942945	67	I>V		No	ClinGen TOPMed
CA397942956 rs1470514403	68	F>Y		No	ClinGen gnomAD
TCGA novel	70	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397942978 rs1444681966	72	R>C		No	ClinGen gnomAD
rs987726980 CA287523044	72	R>L		No	ClinGen TOPMed gnomAD
CA8365483 rs750153057	73	P>Q		No	ClinGen ExAC gnomAD
rs750153057 CA397942985	73	P>R		No	ClinGen ExAC gnomAD
CA397942983 rs1403174852	73	P>S		No	ClinGen gnomAD
rs1228718314 CA397942999	76	A>T		No	ClinGen TOPMed
rs1420394492 CA397943010	77	A>V		No	ClinGen TOPMed gnomAD
CA8365485 rs558294899	78	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8365486 rs752996693	80	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1200884939 CA397943039	83	R>C		No	ClinGen gnomAD
rs1271710086 CA397943042	83	R>H		No	ClinGen gnomAD
rs1167809648 CA397943062	87	D>N		No	ClinGen gnomAD
rs1598143968 CA397943080	89	G>A		No	ClinGen Ensembl
CA397943088 rs573367793	91	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8365488 rs749432012	93	G>R		No	ClinGen ExAC TOPMed gnomAD
CA397943098 rs749432012	93	G>S		No	ClinGen ExAC TOPMed gnomAD
CA397943114 rs1285198149	95	R>L		No	ClinGen gnomAD
CA397943109 rs1267690378	95	R>S		No	ClinGen TOPMed
CA8365489 rs771426657	96	F>L		No	ClinGen ExAC
CA226105 rs61749667 RCV000084875	97	E>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1567957056 CA397943140	99	A>V		No	ClinGen Ensembl
TCGA novel	102	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397943180 rs772514611	106	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8365491 rs772514611	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1363885483 CA397943189	108	P>S		No	ClinGen TOPMed gnomAD
CA397943187 rs1363885483	108	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	109	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218251686 CA397943193	109	G>S		No	ClinGen gnomAD
CA397943203 rs1290594016	110	S>L		No	ClinGen gnomAD
CA8365492 rs774934785	112	G>A		No	ClinGen ExAC gnomAD
CA397943213 rs774934785	112	G>E		No	ClinGen ExAC gnomAD
rs61750198 CA226139 RCV000084895	114	V>A		No	ClinGen ClinVar Ensembl dbSNP
rs1240857882 CA397943221	114	V>M		No	ClinGen TOPMed gnomAD
rs1302252247 CA397943242	117	A>V		No	ClinGen TOPMed
rs1238943129 CA397943250	119	A>S		No	ClinGen TOPMed gnomAD
rs1187415637 CA397943257	120	R>H		No	ClinGen gnomAD
CA397943260 rs1284617566	121	V>M		No	ClinGen Ensembl
rs1598144053 CA397943274	123	G>C		No	ClinGen Ensembl
CA397943289 rs1598144059	125	V>G		No	ClinGen Ensembl
CA397943284 rs1422936516	125	V>M		No	ClinGen gnomAD
CA397943290 rs1598144065	126	G>C		No	ClinGen Ensembl
CA397943298 rs1165677649	127	P>S		No	ClinGen gnomAD
CA397943305 rs1467903318	128	V>G		No	ClinGen TOPMed
CA397943303 rs1598144076	128	V>L		No	ClinGen Ensembl
CA397943351 rs1346829806	131	A>E		No	ClinGen TOPMed gnomAD
rs544905777 CA397943433	136	A>D		No	ClinGen 1000Genomes gnomAD
rs544905777 CA287523149	136	A>G		No	ClinGen 1000Genomes gnomAD
rs544905777 CA287523153	136	A>V		No	ClinGen 1000Genomes gnomAD
rs1555634588 CA397943469	138	L>R		No	ClinGen Ensembl
rs786205499 CA235953 RCV000171249	139	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA397943493 rs1315288867	140	A>G		No	ClinGen gnomAD
TCGA novel	140	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs563014439 CA287523183	141	E>A		No	ClinGen 1000Genomes
rs1202782880 CA397943497	141	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1202782880 CA397943501	141	E>Q		No	ClinGen TOPMed gnomAD
CA397943517 rs1188695303	142	E>K		No	ClinGen TOPMed
rs1464376746 CA397943536	143	A>S		No	ClinGen TOPMed
TCGA novel	143	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761448586 CA8365495	144	G>R		No	ClinGen ExAC gnomAD
CA287523247 rs890569519	151	G>D		No	ClinGen TOPMed gnomAD
rs773849840 CA287523239	151	G>S		No	ClinGen TOPMed gnomAD
rs1369268347 CA397943710	154	W>R		No	ClinGen gnomAD
CA287523249 rs996991243	155	T>M		No	ClinGen TOPMed gnomAD
rs1469698027 CA397943754	156	Q>*		No	ClinGen gnomAD
rs1156840437 CA397943783	157	A>E		No	ClinGen gnomAD
rs1401257345 CA397943812	159	G>D		No	ClinGen gnomAD
rs750399742 CA8365497	160	T>I		No	ClinGen ExAC TOPMed gnomAD
CA397943844 rs1454369607	161	T>M		No	ClinGen TOPMed gnomAD
rs890804991 CA287523263	162	A>T		No	ClinGen TOPMed gnomAD
rs200586401 CA397943873	163	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200586401 CA8365499	163	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1017653960 CA287523272	164	A>T		No	ClinGen TOPMed gnomAD
CA397943903 rs1229605900	165	V>A		No	ClinGen gnomAD
CA397943914 rs1567957189	166	T>I		No	ClinGen Ensembl
rs967607545 CA287523289	167	P>S		No	ClinGen TOPMed gnomAD
rs756319569 CA397943935	168	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756319569 CA8365501	168	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1437419643 CA397943950	169	A>T		No	ClinGen gnomAD
rs1200912478 CA397943972	171	A>T		No	ClinGen TOPMed gnomAD
CA287523310 rs867412298	175	L>R		No	ClinGen Ensembl
CA235955 rs786205500 RCV000171250	176	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs779246332 CA8365505	177	R>S		No	ClinGen ExAC gnomAD
rs746387733 CA8365506	178	A>V		No	ClinGen ExAC gnomAD
CA397944073 COSM1209211 rs1335897916	180	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	182	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397944129 rs1283213579	183	R>C		No	ClinGen gnomAD
rs1256991984 CA397944216	188	T>I		No	ClinGen gnomAD
TCGA novel	189	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776470314 CA8365512	191	Q>R		No	ClinGen ExAC gnomAD
rs1555634640	191	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs61750199 CA8365515	193	L>V		No	ClinGen ExAC gnomAD
CA397944332 rs1372337848	195	V>M		No	ClinGen gnomAD
rs1370721862 CA397944404	199	R>H		No	ClinGen gnomAD
rs1370721862 CA397944409	199	R>L		No	ClinGen gnomAD
CA8365516 rs766286225	200	S>L		No	ClinGen ExAC gnomAD
CA397944453 rs1180778956	202	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	203	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302566071 CA397944475	204	A>T		No	ClinGen gnomAD
CA397944486 rs1413394994	204	A>V		No	ClinGen TOPMed
rs765369504 CA8365522	208	R>L		No	ClinGen ExAC TOPMed gnomAD
CA287523387 rs908488035	209	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	213	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260958406 CA397944627	214	S>F		No	ClinGen gnomAD
rs1194995551 CA397944652	216	T>A		No	ClinGen gnomAD
rs747354016 CA8365526	216	T>I		No	ClinGen ExAC gnomAD
rs1038239091 CA287523392	217	S>F		No	ClinGen TOPMed gnomAD
rs1185443834 CA397944665	217	S>P		No	ClinGen TOPMed
rs747809048 CA8365529	218	M>I		No	ClinGen ExAC gnomAD
rs780953815 CA8365528	218	M>V		No	ClinGen ExAC TOPMed gnomAD
rs769129492 CA8365530	220	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8365532 rs748820854	223	L>P		No	ClinGen ExAC gnomAD
CA8365533 rs770873775	227	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397944762 rs1366343667	227	R>W		No	ClinGen gnomAD
rs774207880 CA8365534	229	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774207880 CA397944790	229	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397944820 rs1361765968	231	R>K		No	ClinGen gnomAD
CA8365535 rs759280279	231	R>S		No	ClinGen ExAC gnomAD
CA397944850 rs1357666856	233	V>F		No	ClinGen TOPMed
rs776773228 CA8365537	234	R>P		No	ClinGen ExAC gnomAD
CA397944866 rs1484826655	234	R>W		No	ClinGen gnomAD
rs1248462569 CA397944876	235	D>N		No	ClinGen TOPMed gnomAD
rs1248462569 CA397944880	235	D>Y		No	ClinGen TOPMed gnomAD
rs762006599 CA8365538	236	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1231782719 CA397944900	236	G>R		No	ClinGen TOPMed
rs765439946 CA8365539	237	P>H		No	ClinGen ExAC gnomAD
CA8365542 rs766859707	238	R>G		No	ClinGen ExAC gnomAD
CA397944936 rs1324943722	238	R>T		No	ClinGen TOPMed
rs1452310913 CA397944967	240	T>K		No	ClinGen gnomAD
CA8365543 rs752141508	241	A>P		No	ClinGen ExAC gnomAD
rs763047690 CA8365559	243	I>T		No	ClinGen ExAC gnomAD
rs752057528 CA8365561	244	M>I		No	ClinGen ExAC gnomAD
rs1323353453 CA397945041	244	M>T		No	ClinGen TOPMed
rs141956583 CA397945036	244	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8365562 rs760107054	245	V>A		No	ClinGen ExAC TOPMed
rs1203452310 CA397945047	245	V>L		No	ClinGen gnomAD
rs1203452310 CA397945046	245	V>M		No	ClinGen gnomAD
rs959135126 CA287523550	246	M>L		No	ClinGen TOPMed gnomAD
CA397945054 rs1317367755	246	M>T		No	ClinGen TOPMed
TCGA novel	246	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397945068 rs138922415	248	S>*	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs1027644020 CA287523569	248	S>T		No	ClinGen Ensembl
CA8365564 rs138922415	248	S>W	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA397945070 rs1233349932	249	V>M		No	ClinGen gnomAD
CA397945078 rs1394528966	250	L>Q		No	ClinGen TOPMed
CA397945076 rs1454735214	250	L>V		No	ClinGen TOPMed
rs1415396885 CA397945090	252	G>A		No	ClinGen TOPMed gnomAD
rs1170008986 CA397945092	253	G>S		No	ClinGen gnomAD
rs756730335 CA8365567	254	E>*	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA397945098 rs756730335	254	E>K	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs61749672 RCV000084904 CA226152	260	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA8365569 rs745444949	263	A>T		No	ClinGen ExAC gnomAD
TCGA novel	263	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771962267 CA8365570	266	L>V		No	ClinGen ExAC gnomAD
CA8365571 rs780014587	268	L>M		No	ClinGen ExAC TOPMed gnomAD
rs768365237 CA8365573	269	T>S		No	ClinGen ExAC gnomAD
CA8365575 rs763099634 COSM985772	270	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397945404 rs763099634	270	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1343799941 RCV000658765 CA397945427	271	G>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1343799941 CA397945425	271	G>D		No	ClinGen TOPMed gnomAD
rs1458943458 CA397945513	277	P>L		No	ClinGen gnomAD
CA8365577 rs774569101	277	P>T		No	ClinGen ExAC gnomAD
TCGA novel	279	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1494079 rs1478566225 CA397945537	279	D>N	kidney Leber congenital amaurosis 1 (lca1) [Cosmic, Ensembl]	No	ClinGen cosmic curated gnomAD
RCV000996480 CA287523615 rs868557040	280	T>R		No	ClinGen ClinVar Ensembl dbSNP
rs1186240682 CA397945558	280	T>S		No	ClinGen gnomAD
CA8365584 rs756851759	284	A>D		No	ClinGen ExAC gnomAD
rs558182614 CA8365582	284	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8365583 rs558182614	284	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs764905877 CA8365585	286	S>F		No	ClinGen ExAC TOPMed gnomAD
rs749912018 CA8365586	287	P>S		No	ClinGen ExAC gnomAD
rs757925587 CA8365587	288	G>C		No	ClinGen ExAC gnomAD
CA397945717 rs1350341897	289	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1268161387 CA397945779	293	A>D		No	ClinGen gnomAD
rs1451475360 CA397945783	294	A>T		No	ClinGen TOPMed
rs374679518 CA8365590	296	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs374679518 CA397945828	296	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1005083528 CA287523648	296	A>P		No	ClinGen TOPMed gnomAD
rs1005083528 COSM261217 CA397945820	296	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs573405328 CA8365591	297	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8365592 rs748043131	298	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1598144670 CA397945887	300	Q>H		No	ClinGen Ensembl
rs1452652342 CA397945885	300	Q>P		No	ClinGen TOPMed gnomAD
rs1452652342 CA397945883	300	Q>R		No	ClinGen TOPMed gnomAD
CA8365594 rs774767443	302	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8365595 rs745897683	302	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	303	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8365598 rs199931193	305	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA397945918 rs1165027778	306	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8365601 rs776826689	308	V>E		No	ClinGen ExAC gnomAD
CA397946004 rs1316110664	311	L>F		No	ClinGen gnomAD
CA397946000 rs1316110664	311	L>I		No	ClinGen gnomAD
rs762211580 CA8365602	312	T>A		No	ClinGen ExAC gnomAD
rs762211580 CA397946013	312	T>P		No	ClinGen ExAC gnomAD
CA397946022 rs61749673	312	T>R	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs912346051 CA287523675	313	R>L		No	ClinGen TOPMed
CA397946144 rs1355051733	319	G>D		No	ClinGen TOPMed
CA8365605 rs765886731	321	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754869603 CA8365607	322	L>P		No	ClinGen ExAC gnomAD
rs1331668123 CA397946205	323	D>N		No	ClinGen gnomAD
rs781230982 CA8365608	324	S>N		No	ClinGen ExAC gnomAD
VAR_067172	325	L>R	found in a patient with LCA1 [UniProt]	No	UniProt
CA397946254 COSM1387545 rs1431677230	326	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA397946255 rs1440873587	326	R>H		No	ClinGen gnomAD
CA397946265 rs1477347275	327	R>K		No	ClinGen gnomAD
CA287523686 rs56280231 VAR_042229	328	A>V		No	ClinGen UniProt Ensembl dbSNP
CA397946336 rs34596269	331	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238175424 CA397946344	331	R>H		No	ClinGen gnomAD
rs1238175424 CA397946346 COSM145470	331	R>P	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397946361 rs1156744504	332	R>L		No	ClinGen gnomAD
CA8365610 rs755999834	333	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397946369 rs755999834	333	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA397946404 rs1403592744	335	P>S		No	ClinGen gnomAD
CA287523714 rs925640953	336	S>Y		No	ClinGen Ensembl
rs1397466363 CA397946455	339	N>S		No	ClinGen TOPMed gnomAD
CA397946453 rs1397466363	339	N>T		No	ClinGen TOPMed gnomAD
CA8365612 rs374507808	340	L>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	343	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397947612 rs768812125	344	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755696904 CA397947614	345	P>A		No	ClinGen ExAC gnomAD
rs755696904 CA8365636	345	P>S		No	ClinGen ExAC gnomAD
rs1199244967 CA397947619	346	L>V		No	ClinGen gnomAD
rs1170075010 CA397947635	348	G>D		No	ClinGen TOPMed gnomAD
CA8365639 rs773563136	352	D>H		No	ClinGen ExAC gnomAD
CA397947667 rs1326185933	353	A>E		No	ClinGen TOPMed gnomAD
rs774420737 CA287524561	353	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397947668 rs1326185933	353	A>V		No	ClinGen TOPMed gnomAD
rs758931689 CA397947671	354	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8365643 rs758931689	354	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8365644 rs767060337	355	F>L		No	ClinGen ExAC gnomAD
CA397947694 rs1263635741	358	A>T		No	ClinGen gnomAD
CA397947699 rs1489401308	358	A>V		No	ClinGen gnomAD
rs201541863 CA8365646	360	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA287524616 rs61749677	362	A>T		No	ClinGen TOPMed gnomAD
CA8365649 rs141917297	365	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA287524622 rs1020962459	366	A>G		No	ClinGen gnomAD
CA397947737 rs1162040179	366	A>T		No	ClinGen gnomAD
CA397947741 rs1020962459	366	A>V		No	ClinGen gnomAD
rs1164328257 CA397947743	367	A>D		No	ClinGen gnomAD
rs754954638 CA287524629	367	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754954638 CA8365651	367	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8365653 rs146031822	368	A>T		No	ClinGen ESP ExAC gnomAD
rs1322820848 CA397947751	369	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770255396 CA397947777 CA8365655	372	W>C		No	ClinGen ExAC TOPMed gnomAD
rs749607771 CA8365657	374	S>P		No	ClinGen ExAC gnomAD
TCGA novel	375	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773811368 CA8365659	375	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8365660 rs745551727	376	A>T		No	ClinGen ExAC gnomAD
CA397947802 rs984277862	377	A>D		No	ClinGen TOPMed gnomAD
CA287524671 rs984277862	377	A>V		No	ClinGen TOPMed gnomAD
rs1598146013 CA397947808	378	V>G		No	ClinGen Ensembl
CA397947815 rs1460624299	379	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760307098 CA8365664	380	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760307098 CA397947819	380	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760307098 CA397947818	380	R>P		No	ClinGen ExAC TOPMed gnomAD
CA397947834 rs776042543	382	I>M		No	ClinGen gnomAD
CA397947832 rs1321356179	382	I>T		No	ClinGen TOPMed
rs1465775351 CA397947842	384	D>E		No	ClinGen gnomAD
rs761445993 CA8365667	384	D>G		No	ClinGen ExAC TOPMed gnomAD
rs776737538 COSM1709764 CA8365666	384	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA287524701 rs994991105	386	Q>E		No	ClinGen TOPMed
CA8365672 rs752751984	388	P>L		No	ClinGen ExAC gnomAD
CA8365671 rs767768129	388	P>T		No	ClinGen ExAC TOPMed gnomAD
CA397947888 rs1159914437	392	G>R		No	ClinGen TOPMed
rs1598146079 CA397947898	393	D>G		No	ClinGen Ensembl
CA397947895 rs1419826982	393	D>Y		No	ClinGen TOPMed
CA8365674 rs756210907	397	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1027365741 CA287524717	397	D>G		No	ClinGen TOPMed
CA397947919 rs1257323097	397	D>N		No	ClinGen gnomAD
CA8365676 rs377021127	398	E>K		No	ClinGen ESP ExAC gnomAD
CA8365677 rs757508954	399	E>D		No	ClinGen ExAC gnomAD
CA397947932 rs1251769393	399	E>K		No	ClinGen gnomAD
rs779327088 CA8365678	400	P>S		No	ClinGen ExAC gnomAD
CA397947948 rs1413237485	401	P>L		No	ClinGen gnomAD
rs1190476854 CA397947950	402	F>I		No	ClinGen TOPMed
CA8365680 rs560366032	403	V>A		No	ClinGen 1000Genomes ExAC gnomAD
COSM1730188 CA397947958 rs1245251228	403	V>M	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1361057788 CA397947971	405	L>P		No	ClinGen TOPMed gnomAD
CA397947975 rs1466640514	406	D>N		No	ClinGen TOPMed gnomAD
rs775299640 CA8365681	407	T>A		No	ClinGen ExAC gnomAD
rs377650196 CA8365682	407	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs865899393 CA287524756	408	D>N		No	ClinGen Ensembl
CA287524761 rs144565168	409	A>T		No	ClinGen ESP
rs761796768 CA8365685	409	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287524789 rs773030462	410	A>E		No	ClinGen ExAC TOPMed gnomAD
rs773030462 CA397948003	410	A>G		No	ClinGen ExAC TOPMed gnomAD
CA287524785 rs1036028583	410	A>T		No	ClinGen gnomAD
rs1386618291 CA397948012	411	G>R		No	ClinGen TOPMed
rs976953564 CA287524790	412	D>N		No	ClinGen TOPMed gnomAD
CA8365689 rs531612488 COSM1679539	413	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1189799607 CA397948069	415	F>L		No	ClinGen gnomAD
rs764174190 CA8365691	415	F>S		No	ClinGen ExAC
CA8365692 rs753928228	417	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1168181797 CA397948108	418	Y>*		No	ClinGen TOPMed gnomAD
rs550107422 CA8365693	418	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388468307 CA397948110	419	M>L		No	ClinGen gnomAD
CA397948121 rs1567958449	420	L>V		No	ClinGen Ensembl
rs1308574050 CA397948127	421	D>Y		No	ClinGen gnomAD
rs1378193575 CA397948144	423	A>T		No	ClinGen TOPMed
CA287524819 rs760766230	424	R>Q		No	ClinGen TOPMed gnomAD
COSM1209213 rs868112359 CA287524813	424	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397948208 rs1227290945	428	L>F		No	ClinGen gnomAD
rs868358206 CA287524839	429	S>F		No	ClinGen gnomAD
rs147586061 CA397948234	430	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8365699 rs147586061	430	A>T	Variant assessed as Somatic; 4.842e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397948247 VAR_042230 rs1451501407	431	G>D	a metastatic melanoma sample; somatic mutation [UniProt]	No	ClinGen UniProt dbSNP gnomAD
CA287524872 rs368557900 COSM3773341	431	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1261423606 CA397948262	432	T>S		No	ClinGen TOPMed gnomAD
rs144151076 CA8365702 COSM1387547	433	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA287524891 rs769749617	433	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397948275 rs1188169226	434	M>K		No	ClinGen gnomAD
CA397948272 rs1489007083	434	M>L		No	ClinGen gnomAD
CA397948287 rs762771301	435	H>N		No	ClinGen ExAC TOPMed gnomAD
CA8365703 rs762771301	435	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1169255860 CA397948301	436	F>L		No	ClinGen gnomAD
rs1218797620 CA397948309	436	F>L		No	ClinGen TOPMed
rs1413127106 CA397948316	437	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397948336 rs151330485	438	R>L		No	ClinGen ESP ExAC gnomAD
CA8365707 rs151330485	438	R>P		No	ClinGen ESP ExAC gnomAD
CA397948349 rs1402786362	439	G>V		No	ClinGen TOPMed
TCGA novel	440	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435233031 CA397948357	440	G>E		No	ClinGen gnomAD
CA8365711 rs750895890	440	G>R		No	ClinGen ExAC gnomAD
CA8365712 rs758775976	441	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752037112 CA8365714	443	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1171134387 CA397948396	444	G>R		No	ClinGen TOPMed
rs1478267007 CA397948412	445	P>S		No	ClinGen TOPMed
rs1335925709 CA397948441	447	P>H		No	ClinGen TOPMed gnomAD
CA397948445 rs1335925709	447	P>L		No	ClinGen TOPMed gnomAD
rs1246455684 CA397948471	449	C>W		No	ClinGen gnomAD
CA8365717 rs769219806	452	D>G		No	ClinGen ExAC gnomAD
rs776845104 COSM437762 CA8365716	452	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776845104 CA397948509	452	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8365718 rs777700238	453	P>L		No	ClinGen ExAC gnomAD
rs117853745 CA397948601	458	G>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs117853745 CA287525052	458	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA397948619 rs1156640453	459	G>E		No	ClinGen gnomAD
rs1323099555 CA397948672	462	E>*		No	ClinGen TOPMed
CA397948680 rs1260656548	463	P>S		No	ClinGen gnomAD
CA397948690 rs1253873238	464	G>D		No	ClinGen TOPMed gnomAD
CA397948686 rs1203022415	464	G>S		No	ClinGen gnomAD
CA397948704 rs1298892054	465	L>R		No	ClinGen TOPMed
CA287525259 rs771764405	466	V>F		No	ClinGen ExAC gnomAD
CA8365740 rs771764405	466	V>I		No	ClinGen ExAC gnomAD
rs771764405 CA8365739	466	V>L		No	ClinGen ExAC gnomAD
rs1406502907 CA397948742	468	L>P		No	ClinGen TOPMed
rs748301943 CA8365741	469	G>S		No	ClinGen ExAC gnomAD
rs1478819668 CA397948792	472	L>P		No	ClinGen TOPMed gnomAD
CA397948803 rs1389017077	473	V>A		No	ClinGen gnomAD
CA8365742 rs770119513	473	V>M		No	ClinGen ExAC gnomAD
CA397948808 rs1427252897	474	V>I		No	ClinGen TOPMed gnomAD
CA397948825 rs1306782149	475	G>E		No	ClinGen gnomAD
rs867041083 CA287525288	475	G>R		No	ClinGen Ensembl
CA287525295 rs960653636	476	M>L		No	ClinGen TOPMed
CA8365743 rs773394059	477	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000084833 rs61749681	478	L>missing		No	ClinVar dbSNP
CA8365745 rs766944930	478	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1329658619 CA397948879	480	G>R		No	ClinGen gnomAD
CA8365746 rs572166519	482	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8365748 rs767788419	484	A>D		No	ClinGen ExAC gnomAD
rs1341621993 CA397948926	484	A>S		No	ClinGen gnomAD
rs753166496 CA8365749	485	H>L		No	ClinGen ExAC gnomAD
CA287525380 rs771288323	486	Y>C		No	ClinGen Ensembl
CA8365750 rs145060888	486	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397949057 rs753488664	490	R>P		No	ClinGen ExAC TOPMed gnomAD
CA397949054 rs1187537253	490	R>W		No	ClinGen TOPMed gnomAD
CA397949067 rs1463384120	491	L>P		No	ClinGen gnomAD
CA397949106 rs1290788423	494	M>K		No	ClinGen TOPMed gnomAD
CA397949108 rs1290788423	494	M>T		No	ClinGen TOPMed gnomAD
CA8365774 rs749999803	494	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8365775 rs767360120	497	V>F		No	ClinGen ExAC TOPMed gnomAD
CA397949157 rs1598146819	497	V>G		No	ClinGen Ensembl
rs767360120 CA397949150	497	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751263915 CA397949169	499	G>S		No	ClinGen ExAC TOPMed gnomAD
rs200211315 CA397949178	500	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479771628 CA397949184	501	N>K		No	ClinGen TOPMed
rs749535904 CA8365779	501	N>S		No	ClinGen ExAC TOPMed
rs1287511242 CA397949220	504	I>T		No	ClinGen gnomAD
CA8365783 rs200651999	508	D>E		No	ClinGen ExAC TOPMed gnomAD
CA287525647 rs548756390	508	D>G		No	ClinGen 1000Genomes
COSM179952 rs760877146 CA8365784	509	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397949319 rs1189197351	511	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8365787 rs764907748	515	P>A		No	ClinGen ExAC TOPMed gnomAD
rs764907748 CA8365788	515	P>T		No	ClinGen ExAC TOPMed gnomAD
CA397949384 rs1345987699	516	H>R		No	ClinGen TOPMed gnomAD
rs762546467 CA8365789	518	G>A		No	ClinGen ExAC gnomAD
rs762546467 CA397949410	518	G>D		No	ClinGen ExAC gnomAD
CA287525675 rs537729498	518	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1198818689 CA397949415	519	T>P		No	ClinGen gnomAD
rs751520851 CA8365791	521	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200189360 CA8365792	522	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8365815 rs201383207	523	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA397949530 rs1396113188	524	A>T		No	ClinGen TOPMed
rs1168076308 CA397949545	525	Q>K	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen gnomAD
TCGA novel	527	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170982522 CA397949581	527	S>N		No	ClinGen gnomAD
rs755454531 CA8365818	527	S>R		No	ClinGen ExAC gnomAD
rs781678909 CA8365819	528	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397949623 rs1385973926	530	S>I		No	ClinGen TOPMed
rs1371237338 CA397949638	531	L>P		No	ClinGen gnomAD
CA8365822 rs553602736	532	G>A		No	ClinGen ExAC TOPMed gnomAD
CA397949644 rs1294796413	532	G>S		No	ClinGen gnomAD
rs748946901 CA8365823	533	A>V		No	ClinGen ExAC gnomAD
rs1274312758 CA397949667	534	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs530209613 CA287525969	534	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530209613 CA8365824	534	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287525984 rs1021967605	535	S>N		No	ClinGen gnomAD
CA397949684 rs1275399285	535	S>R		No	ClinGen gnomAD
rs1021967605 CA397949680	535	S>T		No	ClinGen gnomAD
rs1469093409 CA397949692 CA397949689	536	M>L		No	ClinGen gnomAD
CA8365825 rs773905916	536	M>T		No	ClinGen ExAC gnomAD
CA226050 rs61749753 RCV000084837	539	I>V		No	ClinGen ClinVar Ensembl dbSNP
CA397949752 rs372005126	540	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372005126 CA8365827	540	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs758645364 CA8365831	543	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1243599161 CA397949852	549	S>G		No	ClinGen TOPMed
rs748509676 CA287526028	549	S>R		No	ClinGen gnomAD
CA397949867 rs1318040273	550	P>S		No	ClinGen gnomAD
rs1355845478 CA397950411	556	E>D		No	ClinGen TOPMed
COSM135736 CA397950423 rs1184024632	557	G>R	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1258120298 CA397950440	559	R>K		No	ClinGen gnomAD
CA397950456 rs1482632384	561	W>C		No	ClinGen gnomAD
TCGA novel	563	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs546875049 CA8365856	567	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs756639026 CA8365855	567	G>R		No	ClinGen ExAC gnomAD
CA397950501 rs1422530580	568	D>E		No	ClinGen gnomAD
rs754170292 CA8365857	568	D>H		No	ClinGen ExAC TOPMed gnomAD
rs754170292 CA397950496	568	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1171568372 CA397950499	568	D>V		No	ClinGen gnomAD
rs933462730 CA287526879	570	H>Y		No	ClinGen Ensembl
rs886043672 CA10605808 RCV000294469	571	I>M		No	ClinGen ClinVar dbSNP gnomAD
CA287526884 rs951042742	571	I>V		No	ClinGen TOPMed
CA8365859 rs778664525	572	A>P		No	ClinGen ExAC TOPMed gnomAD
rs61749756 CA397950527	573	I>L	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs137853897 CA397950534	574	R>G	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs137853897 CA397950533	574	R>S	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA397950538 rs1274478930	575	P>A		No	ClinGen TOPMed gnomAD
rs1274478930 CA397950539	575	P>S		No	ClinGen TOPMed gnomAD
CA397950567 rs1280999882	579	T>M		No	ClinGen gnomAD
rs1360352993 CA397951136	584	L>F		No	ClinGen gnomAD
CA8365890 rs776817542	585	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8365891 rs762226529	585	Q>H		No	ClinGen ExAC gnomAD
CA397951177 rs1463217574	586	E>G		No	ClinGen gnomAD
CA397951167 rs1392669245	586	E>K		No	ClinGen TOPMed gnomAD
rs200241218 CA8365893	587	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM3764644 CA287530833 rs940175403	588	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1297688404 CA397951211	589	H>Q		No	ClinGen gnomAD
rs1326988866 CA397951215	590	E>K		No	ClinGen gnomAD
rs373362030 CA8365895	592	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373362030 CA397951245	592	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs754709344 CA8365897	593	A>S		No	ClinGen ExAC gnomAD
CA8365899 rs780537281	596	L>P		No	ClinGen ExAC gnomAD
rs780537281 CA8365898	596	L>Q		No	ClinGen ExAC gnomAD
rs867266072 CA287530846	597	G>E		No	ClinGen Ensembl
CA397951318 rs1270430352	598	L>I		No	ClinGen TOPMed
rs1448100751 CA397951336	599	F>L		No	ClinGen TOPMed gnomAD
CA8365901 rs777699097	600	L>M		No	ClinGen ExAC gnomAD
rs749012764 CA8365902 COSM3820968	601	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8365904 rs770740012	602	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747173302 CA397951357	602	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747173302 CA8365905	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs943953143 CA8365906	603	G>A		No	ClinGen TOPMed
CA287530875 rs943953143	603	G>E		No	ClinGen TOPMed
rs1165992040 CA397951379	604	A>V		No	ClinGen gnomAD
CA8365908 rs768994065	606	G>R		No	ClinGen ExAC gnomAD
CA8365910 rs761968706	608	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397951426 rs1244476010	608	A>V		No	ClinGen Ensembl
CA287530915 rs779224998	610	L>V		No	ClinGen ExAC TOPMed gnomAD
CA397951455 rs1488598534	611	W>*		No	ClinGen gnomAD
CA397951463 rs1233647883	611	W>C		No	ClinGen TOPMed gnomAD
rs1240090695 CA397951485	613	G>R		No	ClinGen gnomAD
CA287530922 rs763362455	615	L>V		No	ClinGen ExAC gnomAD
rs1257463885 CA397951531	616	A>V		No	ClinGen TOPMed
rs1343672479 CA397951543	617	V>A		No	ClinGen gnomAD
CA8365915 rs751995887	617	V>L		No	ClinGen ExAC gnomAD
rs752088799 CA287530935	621	H>N		No	ClinGen ExAC gnomAD
rs752088799 CA8365918	621	H>Y		No	ClinGen ExAC gnomAD
rs1189135118 CA397951619	622	C>F		No	ClinGen gnomAD
CA8365919 rs370742162	623	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8365920 rs370742162	623	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8365926 rs768706642	625	G>A		No	ClinGen ExAC TOPMed gnomAD
rs768706642 CA8365925	625	G>D		No	ClinGen ExAC TOPMed gnomAD
CA397951676 rs1294640267	628	Q>E		No	ClinGen TOPMed
rs567708710 CA287531000	632	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567708710 CA8365931 COSM173309	632	A>T	large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774564791 CA8365932	632	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397951712 rs1411356446	633	Q>H		No	ClinGen TOPMed
CA287531016 rs767009640	639	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8365934 rs767009640	639	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA397951809 rs1420799791	640	W>C		No	ClinGen TOPMed gnomAD
rs1281795950 CA397951799	640	W>R		No	ClinGen gnomAD
CA397951825 rs1167136644	641	M>I		No	ClinGen TOPMed
rs1462063004 CA397951842	642	F>L		No	ClinGen TOPMed
rs760126540 CA8365936	649	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397951943 rs1251109440	651	I>V		No	ClinGen gnomAD
rs139168077 CA287531141	653	G>E		No	ClinGen ESP TOPMed
RCV000084846 rs61750160 CA226060	653	G>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8365957 rs765048134	654	I>T		No	ClinGen ExAC gnomAD
rs750399947 CA8365959	655	R>M		No	ClinGen ExAC TOPMed gnomAD
rs750399947 CA397952044	655	R>T		No	ClinGen ExAC TOPMed gnomAD
CA8365960 rs779870173	659	H>R		No	ClinGen ExAC gnomAD
rs1250667402 CA397952095	659	H>Y		No	ClinGen TOPMed
rs1360525092 CA397952122	661	G>D		No	ClinGen gnomAD
CA8365963 rs749314383	663	A>T		No	ClinGen ExAC gnomAD
CA397952159 rs1238251797	664	H>R		No	ClinGen gnomAD
rs147166962 CA8365965	666	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	667	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM268497 rs369222553 CA8365967	670	R>Q	Cone-rod dystrophy 6 (cord6) large_intestine [Ensembl, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA397952281 rs1416982503	673	I>M		No	ClinGen TOPMed gnomAD
rs747391169 CA8365969	677	R>K		No	ClinGen ExAC gnomAD
TCGA novel	677	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397952346 rs1291909840	678	F>C		No	ClinGen TOPMed
CA397952351 rs776298636	678	F>L		No	ClinGen ExAC gnomAD
rs377557911 CA8365972	679	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	679	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8365973 rs192306625	681	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287531258 rs935195316	684	D>E		No	ClinGen TOPMed gnomAD
rs1282252899 CA397952479	688	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8365979 rs144291605	688	G>R	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA8365980 rs754134176	689	R>S		No	ClinGen ExAC gnomAD
RCV000084849 rs61750163	693	A>missing		No	ClinVar dbSNP
rs35146471 CA8365983 VAR_042232	693	A>E		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA8365985 rs61750164	694	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs61750164 CA8365984	694	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA226066 rs61750164 RCV000084850	694	Q>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1237783733 CA397952564	695	K>R		No	ClinGen TOPMed gnomAD
rs1598149266 CA397952579	696	V>G		No	ClinGen Ensembl
CA8365989 rs200128473	698	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8365987 rs747338144	698	P>S		No	ClinGen ExAC gnomAD
CA287531372 rs370318503	700	P>R		No	ClinGen ESP TOPMed
CA397952633 rs1598149293	701	P>L		No	ClinGen Ensembl
CA287531373 rs1003191126	702	R>G		No	ClinGen TOPMed
rs1375409540 CA397952642	702	R>I		No	ClinGen TOPMed gnomAD
CA397952638 rs1375409540	702	R>K		No	ClinGen TOPMed gnomAD
rs577880164 CA397952657	703	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270111845 CA397952648	703	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8365992 rs142997995	704	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA397952675 rs1434526446	705	D>H		No	ClinGen TOPMed
rs1466341797 CA397952743	706	Q>K		No	ClinGen gnomAD
CA8366016 rs775339427	707	L>M		No	ClinGen ExAC gnomAD
CA397952764 rs1201943069	709	T>A		No	ClinGen gnomAD
rs763214827 CA8366020	713	L>M		No	ClinGen ExAC gnomAD
CA8366021 rs766418873	714	L>R		No	ClinGen ExAC gnomAD
rs755464893 CA8366023	716	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8366024 rs373767265	717	P>A		No	ClinGen ESP ExAC gnomAD
CA8366026 rs756464199	719	L>P		No	ClinGen ExAC gnomAD
rs756464199 CA287531975	719	L>R		No	ClinGen ExAC gnomAD
rs777432099 CA8366027	721	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs141352623 CA8366028	721	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141352623 CA287531993	721	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs745426085 CA8366031	722	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397952841 rs1478344849	723	G>E		No	ClinGen gnomAD
rs561318435 CA8366033	724	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459595665 CA397952853	726	A>T		No	ClinGen gnomAD
rs759619180 CA8366040	729	V>I		No	ClinGen ExAC gnomAD
CA397952878 rs1291164005	730	F>V		No	ClinGen TOPMed gnomAD
CA397952901 rs1336520916	733	A>S		No	ClinGen TOPMed gnomAD
rs202094105 CA8366041	734	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs764334726 CA8366044	736	M>I		No	ClinGen ExAC TOPMed gnomAD
rs756693094 CA8366043	736	M>T		No	ClinGen ExAC TOPMed gnomAD
rs35616384 CA287532082	740	V>L		No	ClinGen Ensembl
CA8366046 rs138176835	742	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397952963 rs138176835	742	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8366047 rs778719428	743	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	744	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8366049 rs757871358	745	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1188502787 CA397952979	745	P>S		No	ClinGen gnomAD
CA226070 rs61750166 RCV000084853	746	Y>C		No	ClinGen ClinVar dbSNP gnomAD
CA397952989 rs1160429343	747	A>T		No	ClinGen gnomAD
rs779666069 CA8366050	747	A>V		No	ClinGen ExAC TOPMed gnomAD
RCV000084854 rs61750167 CA226072	750	E>*		No	ClinGen ClinVar dbSNP gnomAD
rs1315548077 CA397953017	751	L>F		No	ClinGen TOPMed
CA397953016 rs1315548077	751	L>V		No	ClinGen TOPMed
CA8366053 rs776278329	752	T>I		No	ClinGen ExAC gnomAD
rs1305834204 CA397953021	752	T>P		No	ClinGen gnomAD
rs747951577 CA397953032	754	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs771077016 CA8366055	755	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397953071 rs1598149983	758	Q>E		No	ClinGen Ensembl
rs775415473 CA8366076	758	Q>P		No	ClinGen ExAC gnomAD
COSM1303499 rs764439180 CA8366078	761	R>Q	Cone-rod dystrophy 6 (cord6) Variant assessed as Somatic; 9.288e-05 impact. urinary_tract [Ensembl, NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8366080 rs777306136	762	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1331595576 CA397953100	763	P>A		No	ClinGen gnomAD
rs1331595576 CA397953102	763	P>S		No	ClinGen gnomAD
CA8366082 rs61750168	768	R>G	Cone-rod dystrophy 6 (cord6) Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs61750169 CA226076 RCV000084857	773	M>L		No	ClinGen ClinVar Ensembl dbSNP
rs750967765 CA8366086	775	Q>R		No	ClinGen ExAC gnomAD
CA397953185 rs1211934880	777	P>T		No	ClinGen gnomAD
CA397953191 rs1488769863	778	V>I		No	ClinGen gnomAD
RCV000478042 CA16620649 rs541299023	779	E>*		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8366090 rs541299023	779	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1187359735 CA397953206	780	C>Y		No	ClinGen Ensembl
CA8366091 rs777539780	781	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8366092 rs749164572	782	L>F		No	ClinGen ExAC gnomAD
rs1166312966 CA397953225	783	L>R		No	ClinGen gnomAD
rs375010731 CA8366095	784	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160645425 CA397953227	784	M>V		No	ClinGen TOPMed
CA397953256 rs1176787837	787	C>W		No	ClinGen TOPMed
CA397953254 rs1338964872	787	C>Y		No	ClinGen gnomAD
CA8366097 rs776893288	791	Q>*		No	ClinGen ExAC gnomAD
rs763774686 CA8366098	792	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763774686 CA397953290	792	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs763381837 CA8366101	793	E>D		No	ClinGen ExAC gnomAD
CA226080 rs61750171 RCV000084859	795	R>L	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs765910207 CA8366102	795	R>W		No	ClinGen ExAC gnomAD
CA397953312 rs1304876088	796	P>L		No	ClinGen gnomAD
TCGA novel	800	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397953336 rs1489210233	800	H>Y		No	ClinGen gnomAD
rs1256474218 CA397953346	801	T>A		No	ClinGen gnomAD
CA8366105 rs766981529	801	T>N		No	ClinGen ExAC gnomAD
CA397953353 rs1413957506	802	F>S		No	ClinGen TOPMed gnomAD
CA397953363 rs756031378	803	D>E		No	ClinGen ExAC gnomAD
CA397953358 rs752269926	803	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8366106 rs752269926	803	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397953386 rs1342656044	805	F>S		No	ClinGen gnomAD
CA397953383 rs1302556013	805	F>V		No	ClinGen TOPMed gnomAD
CA397953399 rs1220768873	807	N>D		No	ClinGen gnomAD
CA287532888 rs199828903	808	I>M		No	ClinGen 1000Genomes gnomAD
CA287532877 rs373615436	808	I>S		No	ClinGen ESP TOPMed
rs1436874837 CA397953412	809	N>D		No	ClinGen gnomAD
CA8366131 rs750247123	811	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8366132 rs201388569	812	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs894774212 CA397953432	812	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8366133 rs141229863	813	K>R		No	ClinGen ESP ExAC gnomAD
rs139046650 CA8366135	817	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397953475 rs1329541544	818	D>E		No	ClinGen gnomAD
rs777766926 RCV001092405 CA8366136	819	S>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs398123233 CA8366139	822	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8366138 rs771406749	822	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1264291406 CA397953500	823	M>L		No	ClinGen gnomAD
rs1030011302 CA287532951	825	E>Q		No	ClinGen TOPMed
CA397953520 rs1338490917	826	Q>E		No	ClinGen gnomAD
rs999347402 CA287532971	832	E>G		No	ClinGen gnomAD
CA239996 rs794727085 RCV000174451	835	I>S		No	ClinGen ClinVar Ensembl dbSNP
CA8366143 rs760126408	836	R>Q		No	ClinGen ExAC gnomAD
CA287532988 rs377594823	837	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8366144 rs377594823	837	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397953631 rs61750174	839	T>K	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen ESP ExAC gnomAD
rs776073853 CA8366145	839	T>S		No	ClinGen ExAC
CA397953650 rs1259276311	840	E>G		No	ClinGen Ensembl
rs1297163796 CA397953666	841	E>V		No	ClinGen TOPMed
rs767799735 CA8366149	843	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	848	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397953762 rs1298746417	849	T>I		No	ClinGen gnomAD
CA397953766 rs1176107854	850	D>N		No	ClinGen TOPMed
RCV000174450 CA239994 rs531982313	851	R>P		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs531982313 CA8366154	851	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8366153 rs571236000	851	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757724509 CA8366155	854	T>A		No	ClinGen ExAC gnomAD
CA397953833 rs1478009358	856	M>T		No	ClinGen TOPMed
rs61750175 CA226089 RCV000084865	856	M>V		No	ClinGen ClinVar Ensembl dbSNP
rs1397949475 CA397953838	857	L>M		No	ClinGen gnomAD
rs374515716 CA8366157	859	P>Q	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214999566 CA397953863	860	S>P		No	ClinGen gnomAD
TCGA novel	860	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397953884 rs1598150673	863	E>G		No	ClinGen Ensembl
CA8366172 rs750904732	864	A>T		No	ClinGen ExAC gnomAD
CA397953896 rs1555635796 RCV000658766	865	L>S		No	ClinGen ClinVar Ensembl dbSNP
CA8366174 rs780386793	866	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs375727197 CA8366176	867	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8366178 rs747646491	868	G>E		No	ClinGen ExAC gnomAD
rs1009898777 CA287533269	870	P>T		No	ClinGen TOPMed
rs1300820031 CA397953957	875	Y>C		No	ClinGen gnomAD
CA397953970 rs1296443886	877	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA397954020 rs1238684150	884	S>N		No	ClinGen gnomAD
CA397954024 rs1312068096	884	S>R		No	ClinGen gnomAD
rs753445019 CA287533276	885	D>N		No	ClinGen Ensembl
rs1365519533 CA397954041	887	V>L		No	ClinGen TOPMed gnomAD
CA397954071 rs1165720101	892	I>V		No	ClinGen TOPMed
CA397954082 rs1237712090	893	S>F		No	ClinGen gnomAD
rs750566089 CA8366190 CA8366189	895	M>I		No	ClinGen ExAC gnomAD
CA397954090 rs1180472258	895	M>V		No	ClinGen gnomAD
CA397954113 rs1432474619	898	P>A		No	ClinGen gnomAD
CA397954121 rs780546534	899	I>N		No	ClinGen ExAC TOPMed gnomAD
rs780546534 CA8366191	899	I>T		No	ClinGen ExAC TOPMed gnomAD
CA397954131 rs1379084211	900	E>D		No	ClinGen gnomAD
CA397954166 rs1386640675	906	N>T		No	ClinGen gnomAD
CA397954178 rs747728750	907	D>E		No	ClinGen ExAC gnomAD
CA397954179 rs1257632848	908	L>I		No	ClinGen gnomAD
TCGA novel	909	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189392055 CA397954228	915	I>V	Cone-rod dystrophy 6 (cord6) [Ensembl]	No	ClinGen TOPMed gnomAD
CA8366200 rs61750178	917	G>C		No	ClinGen ExAC TOPMed gnomAD
rs61750178 RCV000084869 CA226095	917	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61750178 CA397954241	917	G>S		No	ClinGen ExAC TOPMed gnomAD
CA287533353 rs955166567	919	H>Y		No	ClinGen Ensembl
rs918045455 CA287533362 CA397954264	920	D>E		No	ClinGen TOPMed
CA8366202 rs745627220	923	K>E		No	ClinGen ExAC gnomAD
CA287533596 rs963735402 COSM221829	925	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA397954320 rs1567961883	927	I>T		No	ClinGen Ensembl
CA8366230 rs769964799	930	A>D		No	ClinGen ExAC gnomAD
CA397954336 rs1370972064	930	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8366229 rs769964799	930	A>V		No	ClinGen ExAC gnomAD
CA8366232 rs766418901	932	M>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8366231 rs763214846	932	M>V		No	ClinGen ExAC gnomAD
rs61750179 CA397954361	934	A>T	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen gnomAD
CA397954365 rs1423857529	934	A>V		No	ClinGen TOPMed
CA397954374 rs1236572248	935	S>L	Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 1 (lca1) [NCI-TCGA, Ensembl]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1458985581 CA397954384	936	G>E		No	ClinGen TOPMed
rs1158556726 CA397954429	939	Q>H		No	ClinGen gnomAD
CA397954438 rs1421873156	940	R>Q		No	ClinGen gnomAD
rs768080447 CA8366235	940	R>W		No	ClinGen ExAC gnomAD
rs369527655 CA8366239	944	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1290779 RCV000084871 rs61750180 CA226099	946	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1337284752 CA397954551	947	A>S		No	ClinGen TOPMed
CA397954557 rs1268610857	947	A>V		No	ClinGen TOPMed
rs1224156529 CA397954619	951	N>S		No	ClinGen gnomAD
CA8366244 rs746733885	955	D>N		No	ClinGen ExAC gnomAD
rs1211791165 CA397954672	956	I>F		No	ClinGen gnomAD
CA397954702 rs1243279091	958	S>I		No	ClinGen gnomAD
CA397954706 rs1243279091	958	S>N		No	ClinGen gnomAD
rs1567961983 CA397954718	959	A>D		No	ClinGen Ensembl
rs781010216 CA397954729	960	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM985813 rs781010216 CA8366246	960	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA397954744 rs1442036010	961	G>D		No	ClinGen gnomAD
CA397954779 rs1413040642	963	F>L		No	ClinGen gnomAD
CA287533750 rs371367958	963	F>S		No	ClinGen gnomAD
CA287533751 rs765051553 COSM1209210	964	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA397954790 rs1178480902	964	R>H		No	ClinGen gnomAD
CA397954807 rs1329345247	965	M>I		No	ClinGen gnomAD
CA8366249 rs774240595	965	M>L		No	ClinGen ExAC gnomAD
rs933256547 CA287533776	966	R>G		No	ClinGen TOPMed gnomAD
rs1417190573 CA8366251	966	R>H		No	ClinGen TOPMed gnomAD
CA397954822 rs1417190573	966	R>L		No	ClinGen TOPMed gnomAD
rs1417190573 CA8366250	966	R>P		No	ClinGen TOPMed gnomAD
CA397954813 rs933256547	966	R>S		No	ClinGen TOPMed gnomAD
rs1274096103 CA397954837	967	H>R		No	ClinGen gnomAD
CA397954877 rs1342592717	969	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397954908 rs1220643568	972	P>S		No	ClinGen gnomAD
CA8366253 rs181567056	973	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs776083430 CA287533778	974	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776083430 CA397954932	974	R>P		No	ClinGen ExAC TOPMed gnomAD
CA397954954 rs61750184	976	R>H	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen gnomAD
rs764522054 CA8366255	977	I>T		No	ClinGen ExAC gnomAD
rs754320374 CA8366256	978	G>V		No	ClinGen ExAC gnomAD
rs1555635874 RCV000658767 CA397954991	979	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs1181152535 CA397955020	981	S>W		No	ClinGen TOPMed
rs1417664618 CA397955068	982	G>D		No	ClinGen gnomAD
rs1385233975 CA397955077	983	P>S		No	ClinGen gnomAD
rs1395017892 CA397955095	984	C>*		No	ClinGen gnomAD
CA226110 rs61750186 RCV000084878	984	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1323485313 CA397955135	988	V>M		No	ClinGen TOPMed
rs1316312106 CA397955154	989	V>G		No	ClinGen gnomAD
CA397955144 rs1248867031	989	V>M		No	ClinGen gnomAD
rs1353569467 CA397955156	990	G>S		No	ClinGen gnomAD
CA287534071 rs367767119	992	T>I		No	ClinGen ESP TOPMed
rs1238460262 CA397955209	994	P>S		No	ClinGen gnomAD
CA287534095 rs777075412	995	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8366275 rs777075412	995	R>P		No	ClinGen ExAC TOPMed gnomAD
rs777075412 CA397955222	995	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA287534097 rs559102087	997	C>F		No	ClinGen 1000Genomes
rs547885527 CA8366276	999	F>Y		No	ClinGen 1000Genomes ExAC TOPMed
rs1351677808 CA397955287	1000	G>R		No	ClinGen gnomAD
rs1254226185 CA397955294	1001	D>N		No	ClinGen gnomAD
rs1462685344 CA397955318	1002	T>M		No	ClinGen gnomAD
CA397955326 rs1237514826	1003	V>F		No	ClinGen gnomAD
CA397955344 rs563005151	1004	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8366280 rs765914203	1008	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765914203 CA397955390	1008	R>L		No	ClinGen ExAC gnomAD
CA397955404 rs1330033723	1009	M>I		No	ClinGen gnomAD
rs1452774826 CA397955400	1009	M>T		No	ClinGen gnomAD
CA287534202 rs199912675	1011	S>Y		No	ClinGen 1000Genomes gnomAD
rs1232859879 CA397955475	1015	P>S		No	ClinGen gnomAD
rs1029468978 CA397955544	1017	R>C		No	ClinGen TOPMed
rs1029468978 CA287534387	1017	R>S		No	ClinGen TOPMed
RCV000084883 rs61750190 CA226119	1019	H>N		No	ClinGen ClinVar Ensembl dbSNP
CA397955586 rs1355636249	1022	L>M		No	ClinGen gnomAD
COSM1253915 CA397955592 rs866511152	1022	L>W	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397955628 rs1405830184	1025	V>E		No	ClinGen gnomAD
rs1367830280 CA397955622	1025	V>M		No	ClinGen gnomAD
rs1360089242 CA397955665	1028	L>F		No	ClinGen gnomAD
rs535800696 CA8366311	1029	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1296317691 CA397955678	1029	R>H		No	ClinGen TOPMed gnomAD
CA8366310 rs535800696	1029	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1321055356 CA397955687	1030	A>D		No	ClinGen gnomAD
CA287534462 rs1020193279	1031	L>P		No	ClinGen TOPMed
CA8366312 rs770266116	1032	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1035	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA226124 rs61750192 RCV000084886	1036	Q>*		No	ClinGen ClinVar dbSNP gnomAD
rs61750193 CA226126 RCV000084887	1036	Q>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA397955772 rs1186594594	1037	V>M		No	ClinGen gnomAD
CA226128 RCV000084888 rs61750194	1040	R>G	Leber congenital amaurosis 1 (lca1) [Ensembl]	No	ClinGen ClinVar ExAC dbSNP gnomAD
CA397955809 rs1162194690	1040	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397955807 rs1162194690	1040	R>Q		No	ClinGen gnomAD
rs569363032 CA8366316	1042	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775044013 CA287534544	1042	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775044013 CA8366317	1042	R>L		No	ClinGen ExAC TOPMed gnomAD
CA397955834 rs1433077309	1043	T>A		No	ClinGen TOPMed gnomAD
rs1289590584 CA397955838	1043	T>K		No	ClinGen gnomAD
rs753600757 CA8366320	1044	E>A		No	ClinGen ExAC gnomAD
rs199611541 CA8366319	1044	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1212209285 CA397955930	1047	G>D		No	ClinGen TOPMed
rs1178756761 CA397955928	1047	G>S		No	ClinGen gnomAD
rs1598151819 CA397955943	1048	K>T		No	ClinGen Ensembl
rs1465082500 CA397955954	1049	G>S		No	ClinGen gnomAD
CA397955960 rs1221467842	1050	A>S		No	ClinGen TOPMed
CA397955963 rs1356162505	1050	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1273973537 CA397955964	1051	E>K		No	ClinGen gnomAD
rs1343263078 CA397955972	1052	D>N		No	ClinGen gnomAD
rs1283435621 CA397955981	1053	T>A		No	ClinGen gnomAD
CA397955999 rs1316723509	1055	W>*		No	ClinGen gnomAD
TCGA novel	1055	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271532171 CA397956008	1057	V>M		No	ClinGen gnomAD
CA287534835 rs912238350	1059	R>K		No	ClinGen Ensembl
CA8366337 rs563091520	1060	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397956024 rs1479610648	1060	R>S		No	ClinGen gnomAD
CA397956031 rs1475142231	1061	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397956075 rs1322730499	1065	P>L		No	ClinGen gnomAD
CA397956071 rs1410401604	1065	P>S		No	ClinGen gnomAD
CA8366339 rs750301530	1067	P>L		No	ClinGen ExAC gnomAD
rs1303350691 CA397956086	1067	P>T		No	ClinGen gnomAD
rs759778209 CA8366340	1068	K>R		No	ClinGen ExAC TOPMed gnomAD
RCV000084892 rs61750196	1069	P>missing		No	ClinVar dbSNP
rs1187326101 CA397956110	1069	P>S		No	ClinGen gnomAD
CA397956130 rs1421988784	1071	D>N		No	ClinGen gnomAD
rs752784361 CA8366343	1074	P>L		No	ClinGen ExAC gnomAD
rs752784361 CA8366342	1074	P>R		No	ClinGen ExAC gnomAD
CA8366345 rs754266653	1075	G>R		No	ClinGen ExAC gnomAD
CA397956247 rs1249600456	1077	S>G		No	ClinGen TOPMed gnomAD
CA287535194 rs868071106	1077	S>I		No	ClinGen Ensembl
RCV000084893 rs281865412	1080	G>missing		No	ClinVar dbSNP
rs865916918 CA287535253	1080	G>D		No	ClinGen Ensembl
rs371919912 CA8366365	1080	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397956324 rs750743574	1082	S>I		No	ClinGen ExAC TOPMed gnomAD
rs750743574 CA8366367	1082	S>T		No	ClinGen ExAC TOPMed gnomAD
CA287535288 rs867857411	1084	Q>K		No	ClinGen Ensembl
rs550992644 CA8366369	1084	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1085	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975471065 CA287535289	1086	I>F		No	ClinGen Ensembl
rs368916122 CA8366370	1086	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471272902 CA397956379	1087	P>S		No	ClinGen gnomAD
CA397956401 rs779735498	1089	E>Q		No	ClinGen TOPMed gnomAD
rs371952237 CA287535356	1090	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371952237 CA8366373	1090	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8366372 rs780510809	1090	R>W		No	ClinGen ExAC gnomAD
rs773307918 CA287535363	1091	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773307918 CA8366375	1091	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397956433 rs1325717461	1092	R>L		No	ClinGen TOPMed gnomAD
CA397956431 rs1325717461	1092	R>P		No	ClinGen TOPMed gnomAD
rs1325717461 CA397956430	1092	R>Q		No	ClinGen TOPMed gnomAD
CA287535392 rs868166805	1093	K>N		No	ClinGen gnomAD
rs1349072188 CA397956449	1094	L>M		No	ClinGen TOPMed
rs1024155105 CA287535412	1095	E>K		No	ClinGen TOPMed gnomAD
CA397956475 rs1598152119	1096	K>*		No	ClinGen Ensembl
rs1250969896 CA397956495	1097	A>G		No	ClinGen gnomAD
rs569402782 CA8366381	1097	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs569402782 CA8366380	1097	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA397956503 rs1430847788	1098	R>L		No	ClinGen TOPMed gnomAD
CA397956501 rs1430847788	1098	R>Q		No	ClinGen TOPMed gnomAD
rs915977682 CA287535445	1099	P>A		No	ClinGen Ensembl
rs948784762 CA287535452	1099	P>L		No	ClinGen gnomAD
CA397956522 rs1460913139	1100	G>D		No	ClinGen gnomAD
CA397956516 rs1373025301	1100	G>S		No	ClinGen gnomAD
CA397956530 rs1300326673	1101	Q>*		No	ClinGen gnomAD
TCGA novel	1102	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8366383 rs765682027	1102	F>Y		No	ClinGen ExAC gnomAD
rs1404609480 CA397956564	1103	S>F		No	ClinGen TOPMed gnomAD
rs904486446 CA287535484	1104	S>R		No	ClinGen Ensembl

4 associated diseases with Q02846

[MIM: 204000]: Leber congenital amaurosis 1 (LCA1)

A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:11035546, ECO:0000269|PubMed:12365911, ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:8944027, ECO:0000269|PubMed:9888789}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601777]: Cone-rod dystrophy 6 (CORD6)

An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:12552567, ECO:0000269|PubMed:15111605, ECO:0000269|PubMed:18332321, ECO:0000269|PubMed:18487367, ECO:0000269|PubMed:20517349, ECO:0000269|PubMed:21552474, ECO:0000269|PubMed:22194653, ECO:0000269|PubMed:23734073, ECO:0000269|PubMed:24480840, ECO:0000269|PubMed:25515582, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:9618177, ECO:0000269|PubMed:9683616}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 215500]: Choroidal dystrophy, central areolar, 1 (CACD1)

A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. {ECO:0000269|PubMed:22695961}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 618555]: Night blindness, congenital stationary, 1I (CSNB1I)

A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. {ECO:0000269|PubMed:29559409}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:11035546, ECO:0000269|PubMed:12365911, ECO:0000269|PubMed:15123990, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:8944027, ECO:0000269|PubMed:9888789}. Note=The disease is caused by variants affecting the gene represented in this entry.
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:12552567, ECO:0000269|PubMed:15111605, ECO:0000269|PubMed:18332321, ECO:0000269|PubMed:18487367, ECO:0000269|PubMed:20517349, ECO:0000269|PubMed:21552474, ECO:0000269|PubMed:22194653, ECO:0000269|PubMed:23734073, ECO:0000269|PubMed:24480840, ECO:0000269|PubMed:25515582, ECO:0000269|PubMed:27475985, ECO:0000269|PubMed:30319355, ECO:0000269|PubMed:9618177, ECO:0000269|PubMed:9683616}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. {ECO:0000269|PubMed:22695961}. Note=The disease may be caused by variants affecting the gene represented in this entry.
A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. {ECO:0000269|PubMed:29559409}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q02846

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	525 - 808	IPR000719
domain	Adenylyl cyclase class-3/4/guanylyl cyclase	844 - 1057	IPR001054
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	579 - 800	IPR001245
domain	Receptor, ligand binding region	73 - 394	IPR001828
domain	Haem NO binding associated	820 - 865	IPR011645
conserved_site	Adenylyl cyclase class-4/guanylyl cyclase, conserved site	987 - 1010	IPR018297

Functions

		Description
EC Number	4.6.1.2	Phosphorus-oxygen lyases
Subcellular Localization	Photoreceptor outer segment membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes.
photoreceptor disc membrane	Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
photoreceptor outer segment membrane	The membrane surrounding the outer segment of a vertebrate photoreceptor.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
GTP binding	Binding to GTP, guanosine triphosphate.
guanylate cyclase activity	Catalysis of the reaction: GTP = 3',5'-cyclic GMP + diphosphate.
peptide receptor activity	Combining with an extracellular or intracellular peptide to initiate a change in cell activity.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein-containing complex binding	Binding to a macromolecular complex.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

7 GO annotations of biological process

Name	Definition
cGMP biosynthetic process	The chemical reactions and pathways resulting in the formation of cyclic GMP, guanosine 3',5'-phosphate.
cGMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
receptor guanylyl cyclase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses guanylyl cyclase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
regulation of rhodopsin mediated signaling pathway	Any process that modulates the frequency, rate or extent of rhodopsin-mediated signaling.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P46197	NPR2	Atrial natriuretic peptide receptor 2	Bos taurus (Bovine)	PR
O02740	GUCY2F	Retinal guanylyl cyclase 2	Bos taurus (Bovine)	PR
P51841	GUCY2F	Retinal guanylyl cyclase 2	Homo sapiens (Human)	PR
P20594	NPR2	Atrial natriuretic peptide receptor 2	Homo sapiens (Human)	PR
Q6VVW5	Npr2	Atrial natriuretic peptide receptor 2	Mus musculus (Mouse)	PR
Q5SDA5	Gucy2f	Retinal guanylyl cyclase 2	Mus musculus (Mouse)	PR
P52785	Gucy2e	Retinal guanylyl cyclase 1	Mus musculus (Mouse)	PR
P18910	Npr1	Atrial natriuretic peptide receptor 1	Rattus norvegicus (Rat)	PR
P16067	Npr2	Atrial natriuretic peptide receptor 2	Rattus norvegicus (Rat)	PR
P51842	Gucy2f	Retinal guanylyl cyclase 2	Rattus norvegicus (Rat)	PR
P51840	Gucy2e	Retinal guanylyl cyclase 1	Rattus norvegicus (Rat)	PR
Q09435	gcy-1	Receptor-type guanylate cyclase gcy-1	Caenorhabditis elegans	PR
O16544	gcy-19	Receptor-type guanylate cyclase gcy-19	Caenorhabditis elegans	PR
Q18331	gcy-11	Receptor-type guanylate cyclase gcy-11	Caenorhabditis elegans	PR
Q10029	gcy-2	Receptor-type guanylate cyclase gcy-2	Caenorhabditis elegans	PR
X5M8U1	gcy-17	Receptor-type guanylate cyclase gcy-17	Caenorhabditis elegans	PR
Q23682	gcy-5	Receptor-type guanylate cyclase gcy-5	Caenorhabditis elegans	PR

10	20	30	40	50	60
MTACARRAGG	LPDPGLCGPA	WWAPSLPRLP	RALPRLPLLL	LLLLLQPPAL	SAVFTVGVLG
70	80	90	100	110	120
PWACDPIFSR	ARPDLAARLA	AARLNRDPGL	AGGPRFEVAL	LPEPCRTPGS	LGAVSSALAR
130	140	150	160	170	180
VSGLVGPVNP	AACRPAELLA	EEAGIALVPW	GCPWTQAEGT	TAPAVTPAAD	ALYALLRAFG
190	200	210	220	230	240
WARVALVTAP	QDLWVEAGRS	LSTALRARGL	PVASVTSMEP	LDLSGAREAL	RKVRDGPRVT
250	260	270	280	290	300
AVIMVMHSVL	LGGEEQRYLL	EAAEELGLTD	GSLVFLPFDT	IHYALSPGPE	ALAALANSSQ
310	320	330	340	350	360
LRRAHDAVLT	LTRHCPSEGS	VLDSLRRAQE	RRELPSDLNL	QQVSPLFGTI	YDAVFLLARG
370	380	390	400	410	420
VAEARAAAGG	RWVSGAAVAR	HIRDAQVPGF	CGDLGGDEEP	PFVLLDTDAA	GDRLFATYML
430	440	450	460	470	480
DPARGSFLSA	GTRMHFPRGG	SAPGPDPSCW	FDPNNICGGG	LEPGLVFLGF	LLVVGMGLAG
490	500	510	520	530	540
AFLAHYVRHR	LLHMQMVSGP	NKIILTVDDI	TFLHPHGGTS	RKVAQGSRSS	LGARSMSDIR
550	560	570	580	590	600
SGPSQHLDSP	NIGVYEGDRV	WLKKFPGDQH	IAIRPATKTA	FSKLQELRHE	NVALYLGLFL
610	620	630	640	650	660
ARGAEGPAAL	WEGNLAVVSE	HCTRGSLQDL	LAQREIKLDW	MFKSSLLLDL	IKGIRYLHHR
670	680	690	700	710	720
GVAHGRLKSR	NCIVDGRFVL	KITDHGHGRL	LEAQKVLPEP	PRAEDQLWTA	PELLRDPALE
730	740	750	760	770	780
RRGTLAGDVF	SLAIIMQEVV	CRSAPYAMLE	LTPEEVVQRV	RSPPPLCRPL	VSMDQAPVEC
790	800	810	820	830	840
ILLMKQCWAE	QPELRPSMDH	TFDLFKNINK	GRKTNIIDSM	LRMLEQYSSN	LEDLIRERTE
850	860	870	880	890	900
ELELEKQKTD	RLLTQMLPPS	VAEALKTGTP	VEPEYFEQVT	LYFSDIVGFT	TISAMSEPIE
910	920	930	940	950	960
VVDLLNDLYT	LFDAIIGSHD	VYKVETIGDA	YMVASGLPQR	NGQRHAAEIA	NMSLDILSAV
970	980	990	1000	1010	1020
GTFRMRHMPE	VPVRIRIGLH	SGPCVAGVVG	LTMPRYCLFG	DTVNTASRME	STGLPYRIHV
1030	1040	1050	1060	1070	1080
NLSTVGILRA	LDSGYQVELR	GRTELKGKGA	EDTFWLVGRR	GFNKPIPKPP	DLQPGSSNHG
1090	1100
ISLQEIPPER	RRKLEKARPG	QFS