AiPD: Autoinhibited Protein Database

Q16281

Gene name	CNGA3 (CNCG3)
Protein name	Cyclic nucleotide-gated cation channel alpha-3
Names	Cone photoreceptor cGMP-gated channel subunit alpha, Cyclic nucleotide-gated channel alpha-3, CNG channel alpha-3, CNG-3, CNG3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1261
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-186 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-186 (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

11 structures for Q16281

Entry ID	Method	Resolution	Chain	Position	Source
3SWY	X-ray	190 A	A/B/C	626-669	PDB
7RHS	EM	293 A	A/B/C	1-694	PDB
8ETP	EM	352 A	A/B/C	1-694	PDB
8EU3	EM	362 A	A/B/C	1-694	PDB
8EUC	EM	361 A	A/B/C	1-694	PDB
8EV8	EM	311 A	A/B/C	151-694	PDB
8EV9	EM	333 A	A/B/C	151-694	PDB
8EVA	EM	333 A	A/B/C	151-694	PDB
8EVB	EM	360 A	A/B/C	151-694	PDB
8EVC	EM	333 A	A/B/C	151-694	PDB
AF-Q16281-F1	Predicted				AlphaFoldDB

718 variants for Q16281

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1793544 RCV001518967 RCV001137361 rs143489966	20	T>I	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
RCV001002957 RCV000392354 CA1793545 rs777509481 RCV001865226	23	R>*	Achromatopsia 2 Achromatopsia Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001856756 rs746563618 RCV001137362 CA1793546	23	R>Q	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs769433253 RCV001295863 RCV001137363 CA1793550 RCV002556922	27	R>H	Achromatopsia 2 Variant assessed as Somatic; 4.632e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs141086649 CA1793578 RCV000337205 RCV001426518	37	S>L	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000512663 rs62156348 RCV001139596 VAR_047565 CA1793589 RCV000393659	48	P>L	Achromatopsia 2 Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558811557 RCV000735808 RCV001002959	51	A>missing	Achromatopsia 2 Achromatopsia [ClinVar]	Yes	ClinVar dbSNP
rs368962370 CA1793596 RCV001139598	52	M>V	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001139600 rs61756692 RCV001064853 CA1793612	71	A>T	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149230055 COSM2914019 CA1793676 RCV002563243 RCV001234481	81	R>H	Variant assessed as Somatic; 0.0 impact. pancreas Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs757470958 CA1793679 RCV000225523 RCV001854800	83	W>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000381532 rs114108462 RCV001140359 CA1793686	95	P>L	Achromatopsia 2 Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001729793 rs1692508715 RCV001862817 RCV001074037	111	S>*	Achromatopsia 2 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1692509021 RCV001067275 RCV001729789	114	E>*	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
rs142837782 RCV000884300 CA1793704 RCV001729732	118	Q>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs994092587 CA52621295 RCV001140360	125	E>K	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs144099488 CA1793739 RCV001232192 RCV001140362 RCV002556991	147	T>R	Achromatopsia 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000382107 CA1793764 RCV001140364 VAR_010902 rs34314205 RCV000948604	153	T>M	Achromatopsia 2 Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001142221 CA1793767 rs199631623 RCV002559379	157	D>E	Achromatopsia 2 Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002524677 COSM1201523 RCV001142222 rs138934573 CA1793768 RCV000416132	158	A>V	Achromatopsia 2 large_intestine Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001142223 RCV001858932 CA1793771 rs373542579	160	V>M	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs747447519 VAR_047566 CA1793775	162	D>V	ACHM2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs104893612 VAR_010903 CA254819 RCV000010081	163	P>L	Achromatopsia 2 Achromatopsia 2 (achm2) ACHM2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1692739030 RCV002549227 RCV001199462	167	L>missing	Achromatopsia [ClinVar]	Yes	ClinVar dbSNP
rs762773298 CA347831544 RCV000578710 RCV001729643	171	W>*	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1793779 rs762773298 VAR_071436	171	W>C	ACHM2; also found in patients with cone-rod dystrophy [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_047567	181	Y>C	ACHM2 [UniProt]	Yes	UniProt
VAR_047568	182	N>Y	ACHM2 [UniProt]	Yes	UniProt
rs779715055 RCV000308354 CA1793786	185	L>V	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_047569	186	L>F	ACHM2 [UniProt]	Yes	UniProt
rs1574385431 CA347831642 RCV001002719	187	I>T	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1793817 VAR_047570 RCV001092738 RCV001074653 rs761554853 RCV001270463	191	C>Y	Achromatopsia 2 Retinal dystrophy Achromatopsia 2 (achm2) ACHM2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_047571	194	E>K	ACHM2 [UniProt]	Yes	UniProt
rs1692797695 RCV001142225	195	L>P	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
rs1330263985 CA347831721 RCV001029776	197	S>P	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_021963 rs2271041 CA1793821 RCV001140913 RCV000438002	198	E>K	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1692799480 RCV001199463	209	S>P	Cone dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075512 rs1692800358	217	D>H	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001002961 RCV002549195 CA1793840 rs138958917	223	R>G	Inborn genetic diseases Achromatopsia Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_071438 RCV001073423 CA1793842 RCV001092739 rs762668060	223	R>Q	Retinal dystrophy ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000594877 RCV000595551 RCV001270465 RCV001074687 CA1793841 VAR_047572 rs138958917	223	R>W	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Retinal dystrophy Achromatopsia Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy [ClinVar, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_047573	224	T>R	ACHM2 [UniProt]	Yes	UniProt
RCV000273159 RCV001512908 CA1793876 VAR_047574 rs147415641 RCV000778101 RCV000733679	228	E>K	Achromatopsia 2 Achromatopsia Achromatopsia 2 (achm2) ACHM2; unknown pathological significance; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1692898861 RCV001199464	235	D>V	Achromatopsia [ClinVar]	Yes	ClinVar dbSNP
COSM1318859 VAR_071440 RCV000180215 CA247589 rs148616345 RCV001137480	247	T>M	Achromatopsia 2 haematopoietic_and_lymphoid_tissue Achromatopsia 2 (achm2) [ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_047575	249	F>S	ACHM2 [UniProt]	Yes	UniProt
RCV001268707 rs756172609 RCV002283538	260	D>missing	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000850497 VAR_047576 RCV001384601 RCV001073600 rs374258471 CA1793891	260	D>N	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy [ClinVar, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_047577 RCV001075212 CA52635235 rs943314733	263	Y>D	Retinal dystrophy ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs536335712 RCV001235929 RCV000593473 CA1793895	266	V>M	Achromatopsia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs781673067 VAR_047578 CA52635247	267	G>D	ACHM2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV001002962 RCV001074985 RCV000734467 rs149802213 COSM3736271 CA1793899 RCV001261952	271	P>A	Achromatopsia 2 skin Retinal dystrophy Achromatopsia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_071442	274	R>K	ACHM2 [UniProt]	Yes	UniProt
RCV001579698 RCV000984997 rs368513591 CA1793901	274	R>S	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA270749 RCV000144419 rs199474697 RCV001543590	276	N>S	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104893620 CA254827 VAR_047579 RCV001092740 COSM1248533 RCV000010089 RCV000596449 RCV000626801	277	R>C	Macular degeneration Achromatopsia 2 oesophagus large_intestine Achromatopsia Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels [ClinVar, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_047580 RCV001092741 RCV000985209 CA52635286 RCV001073764 rs778114016	277	R>H	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Retinal dystrophy ACHM2; also found in patients with cone-rod dystrophy [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
rs763421555 CA1793904 VAR_071443	278	L>P	ACHM2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV001075581 RCV000010083 COSM1580002 CA254821 RCV001002963 RCV001050960 VAR_010904 rs104893614	283	R>Q	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. central_nervous_system Achromatopsia Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA254820 COSM1410188 rs104893613 RCV000010082 VAR_010905 RCV001222182 RCV000415133	283	R>W	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. large_intestine Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1793912 RCV000597637 COSM1410189 rs199837807 RCV001066140	290	R>H	large_intestine Achromatopsia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_010906 RCV000010085 CA254822 rs104893616 RCV001075211	291	T>R	Achromatopsia 2 Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP dbSNP
rs1692904914 RCV001270467	301	F>*	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
rs1574390600 CA347832393 RCV001002964	302	R>G	Achromatopsia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001366668 CA1793918 RCV001199465 rs749853484	302	R>S	Cone dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1305790956 CA347832401 RCV001075288	303	I>F	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_047581	312	I>del	ACHM2 [UniProt]	Yes	UniProt
RCV001074832 RCV000786011 RCV001389647 rs777878533	314	I>missing	Achromatopsia Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs753625117 RCV000171300 CA236061 RCV001823124	319	C>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_071444	322	F>S	ACHM2 [UniProt]	Yes	UniProt
VAR_075493	323	A>D	ACHM2 [UniProt]	Yes	UniProt
CA1793927 RCV000505161 RCV000278423 rs146195955 RCV001074859 RCV000761548	323	A>P	Achromatopsia 2 Cone dystrophy Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752170364 RCV000376215 CA1793929	328	I>T	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001268815 rs1558820134 CA347832576 RCV000786010	329	G>C	Achromatopsia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA347832661 RCV001074652 RCV001683732 VAR_047582 rs1227761587	341	S>P	Retinal dystrophy ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000274963 rs780411290 RCV000764450 CA1793936	345	H>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001074830 rs1692908768 RCV001300780	350	R>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1574390811 RCV001029799 CA347832803	362	T>I	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs766637612 VAR_047583 CA1793944	369	T>S	ACHM2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV002542861 RCV001270469 rs958089715	372	P>*	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
CA347832857 rs1464167194 RCV002267757	372	P>A	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_047584 RCV001002966 RCV001060342 CA347832856 rs1464167194 RCV001270466	372	P>S	Achromatopsia 2 Achromatopsia ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001729792 RCV001073683 CA1793951 rs552553452 RCV001228298	373	V>M	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001352956 CA347832880 RCV001362275 rs1377555853 RCV001074023	376	E>K	Achromatopsia 2 Retinal dystrophy Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1692911763 VAR_047585 RCV001211278	380	F>S	ACHM2 [UniProt]	Yes	ClinVar UniProt dbSNP
CA52635522 rs916035276 VAR_047586	401	S>P	ACHM2 [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs1553450734 CA347833076 VAR_047587 RCV000593624 RCV001048868	406	M>T	Achromatopsia ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001052998 RCV000010087 VAR_010910 rs137852608 RCV001075289 CA254824	410	R>W	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Retinal dystrophy Achromatopsia 2 (achm2) ACHM2 [ClinVar, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA347833157 rs1162745859 RCV001137483	418	D>E	Achromatopsia 2 [ClinVar]	Yes	ClinGen gnomAD ClinVar dbSNP
RCV001199461 rs371558158	419	S>P	Achromatopsia [ClinVar]	Yes	ClinVar dbSNP
RCV001074460 rs1692915919	424	M>T	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000596729 RCV000596662 RCV001075180 VAR_047588 RCV000678541 RCV001814192 RCV001196267 CA1793976 rs141386891	427	R>C	Achromatopsia 2 Retinal dystrophy Achromatopsia ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001270880 CA1793978 rs771172885	427	R>L	Achromatopsia 2 Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1692916541 RCV001270468	429	V>A	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001002967 rs1574391103	432	D>missing	Achromatopsia [ClinVar]	Yes	ClinVar dbSNP
CA1793985 rs767083685 VAR_071447	436	R>Q	ACHM2 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV001075358 RCV001042434 VAR_047589 RCV000010090 CA254828 RCV000591222 rs104893621	436	R>W	Achromatopsia 2 Retinal dystrophy Achromatopsia Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000678542 rs1558820471	437	V>missing	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
COSM364506 CA1793986 RCV001784622 rs749842881 RCV001067274 VAR_047590 RCV001074971	439	R>W	lung Achromatopsia 2 Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius [Cosmic, ClinVar, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1553450762 RCV000592559 RCV001729647	440	W>missing	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
CA347833298 RCV000594314 rs1553450764	440	W>*	Achromatopsia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000267566 RCV001246923 rs190014426 CA1793990	448	K>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1692921014 RCV001729786 RCV001058801	465	K>missing	Achromatopsia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000504772 VAR_047591 CA1794000 rs117522010 RCV001377934	469	A>T	Cone dystrophy ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
rs373954146 VAR_047592 CA1794001	471	N>S	ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_047593	485	D>V	ACHM2 [UniProt]	Yes	UniProt
CA1794025 rs778000601 RCV001587263 RCV001233341	507	D>G	Cone dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs908111816 VAR_047594 CA347833740	510	C>S	ACHM2 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_047595	513	G>E	ACHM2 [UniProt]	Yes	UniProt
VAR_047596	516	G>E	ACHM2 [UniProt]	Yes	UniProt
CA1794036 RCV000678543 rs199655686 RCV000225371 RCV000322792	519	M>I	Achromatopsia 2 Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_047597	522	I>T	ACHM2 [UniProt]	Yes	UniProt
VAR_047598	525	G>D	ACHM2 [UniProt]	Yes	UniProt
RCV001270464 VAR_066860 rs375928335	527	L>M	Achromatopsia 2 found in a patient with Leber congenital amaurosis; unknown pathological significance [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
rs779023431 RCV001075609	527	L>P	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000010088 rs104893619 COSM77490 VAR_010907 RCV000352391 CA254826 RCV001002968	529	V>M	Achromatopsia 2 ovary Variant assessed as Somatic; 0.0 impact. Achromatopsia Achromatopsia 2 (achm2) ACHM2; also found in patients with cone-rod dystrophy [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001074601 RCV000325405 CA1794046 VAR_071448 rs775332304	533	D>H	Retinal dystrophy probable disease-associated variant found in patients with cone-rod dystrophy [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA1794053 RCV000488165 RCV001002969 RCV001139697 rs116448158	540	V>I	Achromatopsia 2 Achromatopsia Achromatopsia 2 (achm2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_071449	543	D>del	ACHM2 [UniProt]	Yes	UniProt
RCV001002970 RCV001074686 RCV000415000 RCV000010086 RCV001055558 CA254823 rs104893617 VAR_010908	547	F>L	Achromatopsia 2 Achromatopsia Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1794058 RCV001238057 rs781227859 RCV001002971 VAR_047599	548	G>R	Achromatopsia ACHM2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001002972 RCV000010084 RCV001074603 RCV000169654 rs104893615 RCV001219847 CA199157 RCV002512958 VAR_010909	557	G>R	Achromatopsia 2 Achromatopsia Inborn genetic diseases Retinal dystrophy Achromatopsia 2 (achm2) ACHM2; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs370911601 RCV000372589 COSM1565914 RCV001861161 CA1794064	560	S>L	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001073296 rs1692930941	562	N>K	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001353014 RCV000732338 CA1794066 rs150153987	563	R>C	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. Achromatopsia 2 (achm2) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000254808 RCV001782754 CA1794067 RCV000504957 VAR_047600 rs552069173 RCV001074992	563	R>H	Achromatopsia 2 Retinal dystrophy ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
COSM1326906 RCV001075604 rs201747279 RCV001784638 CA1794070 VAR_047601 RCV001092744	565	T>M	Achromatopsia 2 ovary large_intestine Retinal dystrophy ACHM2 [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
COSM137361 CA1794073 rs757167624 RCV001068677 RCV001729790	569	R>C	Achromatopsia 2 ovary large_intestine skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs201782746 RCV001068271 VAR_047602 COSM1248534 CA1794074 RCV001074829	569	R>H	oesophagus Retinal dystrophy ACHM2 [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_047603	573	Y>C	ACHM2 [UniProt]	Yes	UniProt
RCV001858609 VAR_047604 CA1794087 RCV000984926 rs763041373	590	E>K	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
CA347834269 rs1374130283 RCV001729851 RCV001337534	592	P>L	Achromatopsia 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000596359 VAR_047605 rs774676415 COSM3714326 CA1794089	593	E>K	upper_aerodigestive_tract Achromatopsia ACHM2 [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD
CA347834287 RCV001139699 rs1558821005	595	K>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1794093 RCV003166693 rs769370731 RCV001301225	603	R>W	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs144627146 RCV002545611 RCV001349467 CA1794100	613	D>N	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs886056489 RCV000338039 CA10614692	615	E>D	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs546831778 CA1794106 RCV002563195 RCV001231009	621	A>T	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001854801 rs878853359 RCV000225636 CA10581657	644	F>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1024218 RCV002533897 CA1794118 RCV000762278 rs753184087	646	R>C	endometrium Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000293539 rs139368657 CA1794120 RCV001055423	650	E>A	Achromatopsia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1794124 rs147293818 RCV001469273 RCV000348566	656	M>I	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002551519 CA1794126 rs191584433 RCV001042730	659	K>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1794130 RCV001140462 rs144715956 RCV001071995	661	R>H	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001202143 RCV001075514 rs183838250 CA1794128	661	R>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs148496805 CA1794131 RCV001466693 RCV001140463	669	V>L	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000393717 CA1794138 rs754086920	684	G>R	Achromatopsia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774668101 CA1793534	2	A>P		No	ClinGen ExAC TOPMed gnomAD
rs774668101 CA1793535	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767999739 CA1793536	2	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347828676 rs1558808351	3	K>R		No	ClinGen Ensembl
rs756106415 CA1793538	4	I>F		No	ClinGen ExAC gnomAD
rs1454957750 CA347828760	7	Q>H		No	ClinGen TOPMed
CA347828753 rs1158776443	7	Q>R		No	ClinGen TOPMed
rs1443129647 CA347828774	8	Y>*		No	ClinGen TOPMed gnomAD
CA52619797 rs901405708	9	S>P		No	ClinGen TOPMed gnomAD
CA1793540 rs754054246	10	H>L		No	ClinGen ExAC gnomAD
TCGA novel	11	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194219748 CA347828797	12	S>C		No	ClinGen gnomAD
rs1454676757 CA347828825	16	L>H		No	ClinGen TOPMed
CA347828821 rs1430615036	16	L>V		No	ClinGen gnomAD
rs747940315 CA1793543	19	K>N		No	ClinGen ExAC TOPMed gnomAD
CA347828851 rs143489966	20	T>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA347828856 rs1402442627	21	S>*	Achromatopsia 2 (achm2) [Ensembl]	No	ClinGen TOPMed gnomAD
rs1488486679 CA347828869	24	D>N		No	ClinGen Ensembl
CA347828879 rs1399937926	25	L>F		No	ClinGen gnomAD
rs776185461 CA1793548	26	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV001240640 rs149069990 COSM175250 CA1793549	27	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs149069990 CA347828890	27	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793553 rs762107596	28	A>P		No	ClinGen ExAC gnomAD
rs762107596 CA1793552	28	A>T		No	ClinGen ExAC gnomAD
rs1213180679 CA347828912	30	N>K		No	ClinGen gnomAD
rs1234096606 CA347828916	31	G>C		No	ClinGen TOPMed
CA1793555 rs761220533	33	S>I		No	ClinGen ExAC gnomAD
CA347828929 rs761220533	33	S>N		No	ClinGen ExAC gnomAD
rs1217285901 CA347828937	34	R>I		No	ClinGen TOPMed gnomAD
RCV000505144 RCV001236804 rs749036398	36	H>missing		No	ClinVar dbSNP
rs1053293800 CA52620705	36	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs755957184 RCV000594944	39	S>missing		No	ClinVar dbSNP
COSM443429 CA1793581 rs763837833	41	E>D	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs535187464 RCV001325634	42	T>A		No	ClinVar dbSNP
rs751367747 CA1793582	42	T>I		No	ClinGen ExAC gnomAD
rs535187464 CA52620706	42	T>S		No	ClinGen 1000Genomes
RCV000487592 rs367575427 CA1793584	43	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1244016268 CA347830345	43	S>T		No	ClinGen gnomAD
CA347830348 rs367575427	43	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347830355 rs1196497044	44	S>L		No	ClinGen gnomAD
CA1793587 rs368755294 RCV001339032	46	L>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1232714887 CA347830368	47	Q>*		No	ClinGen TOPMed
CA1793588 rs146318973	47	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs771343327 CA1793592	49	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1793591 rs142681231	49	G>W		No	ClinGen ESP ExAC gnomAD
CA1793593 rs777234482	50	I>F		No	ClinGen ExAC gnomAD
rs770052346 RCV001317583 CA1793595	51	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1793597 rs763335863	52	M>T		No	ClinGen ExAC gnomAD
rs1293878574 CA347830421	56	G>R		No	ClinGen TOPMed gnomAD
CA347830427 rs1216637665	57	L>V		No	ClinGen gnomAD
CA347830432 rs1558811653	58	A>T		No	ClinGen Ensembl
CA347830437 rs1574375743	58	A>V		No	ClinGen Ensembl
rs1277340471 CA347830447	60	S>P		No	ClinGen gnomAD
rs1253830785 CA347830453	61	G>A		No	ClinGen gnomAD
CA1793602 rs202197432 CA1793601	61	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA52620710 rs202197432	61	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1210938939 CA347830459	62	Q>R		No	ClinGen gnomAD
rs756012830 CA347830466	63	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1793605 rs756012830	63	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1793604 rs750409034	63	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	63	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765938043 CA1793606	64	S>Y		No	ClinGen ExAC gnomAD
rs1357613392 CA347830487	67	G>D		No	ClinGen gnomAD
CA52620711 rs147789073	67	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793608 rs147789073	67	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA347830500 rs1313549731	69	G>E		No	ClinGen gnomAD
CA52620712 rs980089967	69	G>R		No	ClinGen TOPMed gnomAD
rs1044383960 CA52620713	70	I>F		No	ClinGen TOPMed
rs200590680 CA1793610	70	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347830504 rs1044383960	70	I>V		No	ClinGen TOPMed
CA1793613 rs746419947	71	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759589628	73	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1793664 rs566717145	74	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1793666 rs77733216 RCV001231271	75	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs371232570 CA1793667	75	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1194754352 CA347830913	76	L>R		No	ClinGen Ensembl
rs575326068 CA1793672	80	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374507358 CA1793673	81	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374507358 CA1793674	81	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793677 rs149230055	81	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374507358 CA1793675	81	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793678 rs377322770	82	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268673326 CA347830948	83	W>R		No	ClinGen TOPMed
CA1793680 rs781101783	84	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1574378075 CA347830955	84	A>T		No	ClinGen Ensembl
CA347830965 rs1473647403	85	A>V		No	ClinGen TOPMed gnomAD
RCV001230682 rs774890755	87	H>Q		No	ClinVar dbSNP
rs373871374 CA1793681	87	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs775253368 CA1793683	89	H>L		No	ClinGen ExAC gnomAD
rs775253368 CA1793684	89	H>P		No	ClinGen ExAC gnomAD
CA1793682 rs769776135	89	H>Y		No	ClinGen ExAC gnomAD
CA347831001 rs1354042829	91	Q>*		No	ClinGen gnomAD
CA1793685 rs768331585	92	D>H		No	ClinGen ExAC
TCGA novel	94	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347831031 rs114108462	95	P>Q	Achromatopsia 2 (achm2) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558812920 CA347831029	95	P>S		No	ClinGen Ensembl
RCV001312982 rs1411155736	99	P>S		No	ClinVar dbSNP
COSM1024206 rs1411155736 CA347831055	99	P>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs761615922 CA1793687 COSM1690798	100	D>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767017804 CA1793689	101	R>C		No	ClinGen ExAC TOPMed gnomAD
rs767017804 CA1793688 RCV001206139	101	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001348210 rs759775948 CA1793690	101	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001305778 CA1793691 rs370581927	103	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs549529161 CA52621269	103	R>H		No	ClinGen TOPMed gnomAD
rs549529161 CA347831081	103	R>L		No	ClinGen TOPMed gnomAD
CA347831083 rs1338257190	104	G>R		No	ClinGen TOPMed
CA1793693 rs758869058	105	A>T		No	ClinGen ExAC gnomAD
CA1793694 rs764229193	105	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375152706 CA1793695 RCV001002960	106	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368478627 CA1793696	108	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1793697 rs781208142	109	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1574378160 CA347831124	110	V>G		No	ClinGen Ensembl
CA1793699 rs755819041	111	S>C		No	ClinGen ExAC TOPMed gnomAD
rs745708829 CA1793698	111	S>P		No	ClinGen ExAC gnomAD
CA1793700 rs779876718	112	S>R		No	ClinGen ExAC gnomAD
rs749304299 CA1793701	113	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1293681017 CA347831151	114	E>D		No	ClinGen gnomAD
rs145713281 CA1793702	115	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1574378183 CA347831167	117	A>T		No	ClinGen Ensembl
CA1793703 rs774008890	118	Q>*		No	ClinGen ExAC gnomAD
CA1793705 rs771785153	118	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs772689125 CA1793706	119	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1793707 VAR_071435 rs199859850	120	N>D		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA347831193 rs1484986676	121	V>E		No	ClinGen gnomAD
CA347831225 rs1187776743	126	P>T		No	ClinGen gnomAD
CA1793710 rs188196750	128	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347831245 rs1372689291	129	R>*		No	ClinGen gnomAD
rs1350432054 CA347831247	129	R>T		No	ClinGen gnomAD
COSM722746 CA1793711 rs763513739	130	G>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1174225295	132	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1428457344 CA347831284	133	A>G		No	ClinGen gnomAD
rs769185929 CA52622218	133	A>P		No	ClinGen ExAC gnomAD
CA1793730 rs769185929	133	A>S		No	ClinGen ExAC gnomAD
rs769185929 CA1793731	133	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347831295 rs1383594874	135	P>T		No	ClinGen gnomAD
rs868136222 CA52622224 RCV001301806	137	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1250558836 CA347831310	137	A>V		No	ClinGen TOPMed
CA1793735 rs760819593	140	N>I		No	ClinGen ExAC TOPMed gnomAD
rs971679733 CA52622231	140	N>K		No	ClinGen TOPMed
CA347831334 rs1214188127	141	T>A		No	ClinGen TOPMed gnomAD
CA347831333 rs1214188127	141	T>P		No	ClinGen TOPMed gnomAD
rs766641662 CA1793737	144	S>N		No	ClinGen ExAC gnomAD
rs868247684 CA52622236	145	N>K		No	ClinGen Ensembl
rs1396908411 CA347831385	148	E>D		No	ClinGen gnomAD
CA1793743 rs752614219	148	E>G		No	ClinGen ExAC gnomAD
rs1453929267 CA347831381	148	E>K		No	ClinGen gnomAD
rs1398889034 CA347831388	149	E>Q		No	ClinGen gnomAD
rs759796739 CA1793761	152	K>E		No	ClinGen ExAC gnomAD
CA1793762 rs765188294	152	K>R		No	ClinGen ExAC gnomAD
CA347831431 rs34314205	153	T>K	Achromatopsia 2 (achm2) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs957791819 CA52624033	154	K>E		No	ClinGen TOPMed
CA1793766 rs751066006	154	K>I		No	ClinGen ExAC gnomAD
CA347831443 rs1368143471	155	K>R		No	ClinGen TOPMed
rs1473389616 CA347831453	156	K>N		No	ClinGen Ensembl
rs138934573 CA1793769	158	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1793772 rs201713771	160	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA347831485 rs747447519	162	D>A		No	ClinGen ExAC gnomAD
rs773719768 CA1793774	162	D>H		No	ClinGen ExAC gnomAD
RCV001268706 rs910710420	164	S>missing		No	ClinVar dbSNP
rs927179911 CA52624103	164	S>F		No	ClinGen TOPMed
CA347831495 rs1574385325	164	S>P		No	ClinGen Ensembl
CA347831509 rs1574385339	166	N>T		No	ClinGen Ensembl
rs958618793 CA52624107	166	N>Y		No	ClinGen Ensembl
CA347831515 rs1234249954	167	L>V		No	ClinGen TOPMed gnomAD
rs1574385348 CA347831530	169	Y>S		No	ClinGen Ensembl
RCV000179380 CA246626 rs200542032	170	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1793778 rs775155230	170	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1793777 rs200542032	170	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149854714 CA52624119	172	L>V		No	ClinGen ESP TOPMed
rs1574385372 CA347831550	173	T>P		No	ClinGen Ensembl
rs919729482 CA52624128	174	A>T		No	ClinGen TOPMed gnomAD
CA347831563 rs1182609021	175	I>V		No	ClinGen Ensembl
rs1256677667 CA347831568 COSM1024207	176	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs757155005 CA1793782	176	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347831575 rs145830636	177	L>P		No	ClinGen ESP ExAC gnomAD
CA1793783 rs145830636	177	L>Q		No	ClinGen ESP ExAC gnomAD
rs370799365 CA1793784	178	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA347831586 rs1474882241	179	V>A		No	ClinGen gnomAD
CA347831595 RCV001351193 rs1168098739	180	F>L		No	ClinGen ClinVar dbSNP gnomAD
rs1064797258 RCV000487872 CA16621756	183	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1432305934 CA347831619	183	W>C		No	ClinGen gnomAD
rs543175270	188	C>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	190	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761554853 CA1793816	191	C>S	Achromatopsia 2 (achm2) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
RCV000729241 rs375673700 CA1793818	193	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1325419198 CA347831713	196	Q>*		No	ClinGen gnomAD
RCV001242251 CA1793822 rs200979604	199	Y>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs968039620 CA52625219	200	L>P		No	ClinGen TOPMed
CA1793824 rs374497578	201	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793825 rs757650055	203	W>C		No	ClinGen ExAC gnomAD
CA1793826 rs781676123	205	V>G		No	ClinGen ExAC gnomAD
TCGA novel	206	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347831784 rs1249135528	207	D>A		No	ClinGen gnomAD
CA347831785 rs1249135528	207	D>G		No	ClinGen gnomAD
rs1469996093 CA347831790	208	Y>H		No	ClinGen TOPMed
rs533596832 CA347831799	209	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1793828 rs533596832 RCV001034800	209	S>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1793831 rs553995770	211	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1414686226 CA347831809	211	D>Y		No	ClinGen gnomAD
CA1793832 rs779055526	212	V>G		No	ClinGen ExAC gnomAD
rs748346243 CA347831819	213	L>M		No	ClinGen ExAC TOPMed gnomAD
CA347831828 rs1459563911	214	Y>C		No	ClinGen gnomAD
TCGA novel	219	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1793835 rs772982333	220	V>I		No	ClinGen ExAC gnomAD
rs772982333 CA1793836	220	V>L		No	ClinGen ExAC gnomAD
CA1793837 RCV001236916 rs770713600	221	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs141395850 CA1793838 RCV001318416	221	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347831876 rs1413936643	222	A>G		No	ClinGen gnomAD
VAR_071439	224	T>I	probable disease-associated variant found in patients with cone-rod dystrophy [UniProt]	No	UniProt
RCV001317118 CA1793843 rs768061703	225	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	229	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769841049 CA1793877	229	Q>R		No	ClinGen ExAC gnomAD
rs775153981 CA1793878	230	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347831947 CA52635177 rs1019772113	232	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	233	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	235	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1793880 rs768456172	239	L>V		No	ClinGen ExAC gnomAD
RCV001247667 rs761494287 CA1793882	242	H>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1326906124 CA347832031	244	K>R		No	ClinGen TOPMed gnomAD
CA1793883 rs143531659 COSM1165932	245	T>M	lung large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1027964844 CA52635191	246	T>N		No	ClinGen TOPMed
TCGA novel	249	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347832082 rs1210775452	252	D>G		No	ClinGen gnomAD
rs752802989 CA1793886	252	D>H		No	ClinGen ExAC
CA52635206 rs990384317	255	S>F		No	ClinGen Ensembl
VAR_071441	258	P>R	probable disease-associated variant found in patients with cone-rod dystrophy [UniProt]	No	UniProt
CA347832117 rs1477725731	258	P>S		No	ClinGen gnomAD
rs1191742974 CA347832122	259	T>A		No	ClinGen gnomAD
rs1417147005 CA347832132	260	D>E		No	ClinGen gnomAD
rs374258471 CA1793892 COSM576584	260	D>H	lung Variant assessed as Somatic; 0.0 impact. Achromatopsia 2 (achm2) [Cosmic, NCI-TCGA, Ensembl]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs750175156 CA1793893	262	A>T		No	ClinGen ExAC gnomAD
rs1226035392 CA347832142	262	A>V		No	ClinGen TOPMed
RCV000903400 CA1793894 rs73964088	264	L>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1574390443 CA347832153	264	L>S		No	ClinGen Ensembl
CA347832169 rs1436565131	267	G>S		No	ClinGen gnomAD
rs768321000 CA1793897	270	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs768321000 CA1793898	270	Y>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	271	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149802213 CA1793900	271	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA347832208 rs1222498341	273	V>L		No	ClinGen gnomAD
rs148949600 CA1793903	275	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs761958868 CA1793907	282	S>P		No	ClinGen ExAC gnomAD
CA1793911 rs754926768	287	F>Y		No	ClinGen ExAC gnomAD
rs367597798 CA247587 RCV000180214	290	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs199837807 CA347832317	290	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347832334 rs1352219403	293	T>K		No	ClinGen gnomAD
CA1793914 rs777433824	295	T>I		No	ClinGen ExAC TOPMed gnomAD
CA347832347 rs777433824	295	T>N		No	ClinGen ExAC TOPMed gnomAD
CA347832358 rs746639657	297	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA1793915 rs746639657	297	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	Y>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347832369 rs1291730636	298	P>L		No	ClinGen gnomAD
CA1793916 rs770185966	299	N>I		No	ClinGen ExAC gnomAD
rs770185966 CA347832374	299	N>S		No	ClinGen ExAC gnomAD
CA1793917 rs775829395	301	F>L		No	ClinGen ExAC TOPMed gnomAD
RCV001305507 rs141718590 CA1793919	303	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1793920 rs774303963	305	N>K		No	ClinGen ExAC gnomAD
rs1574390612 CA347832415	305	N>S		No	ClinGen Ensembl
RCV001343497 rs761915575 CA1793921	307	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1410520572 CA347832446	310	I>V		No	ClinGen gnomAD
rs1290229054 CA347832454	311	L>F		No	ClinGen gnomAD
rs1290229054 COSM1024208 CA347832452	311	L>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1692906033 RCV001237067	311	L>P		No	ClinVar dbSNP
rs1290229054 CA347832453	311	L>V		No	ClinGen gnomAD
CA52635359 rs745785813	315	H>L		No	ClinGen Ensembl
rs375921760 CA1793924	315	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA52635355 rs866732997	315	H>Y		No	ClinGen Ensembl
RCV001224965 rs1692906608	316	W>G		No	ClinVar dbSNP
COSM1284180 rs766331925 CA1793926	318	A>T	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA347832514 rs1227670242	320	I>L		No	ClinGen TOPMed gnomAD
rs765181562 CA347832570	328	I>L		No	ClinGen ExAC gnomAD
rs765181562 CA1793928	328	I>V		No	ClinGen ExAC gnomAD
VAR_071445	330	F>S	probable disease-associated variant found in patients with cone-rod dystrophy [UniProt]	No	UniProt
CA347832592 rs1311451829	331	G>E		No	ClinGen gnomAD
VAR_071446 rs1692907593 RCV001352075	334	S>F	probable disease-associated variant found in patients with cone-rod dystrophy [UniProt]	No	ClinVar dbSNP UniProt
TCGA novel	335	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_069398	335	W>C		No	UniProt
RCV001244004 rs753540191	336	V>missing		No	ClinVar dbSNP
CA1793934 rs757084319	341	S>F		No	ClinGen ExAC
rs560262335 CA1793935	343	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs369281115 CA52635409	344	E>*		No	ClinGen ESP TOPMed gnomAD
rs775262372 CA347832691	346	G>R		No	ClinGen TOPMed gnomAD
CA52635415 rs775262372	346	G>W		No	ClinGen TOPMed gnomAD
CA347832698 rs1211845337	347	R>C		No	ClinGen TOPMed gnomAD
rs749591705 RCV001051906 CA1793937 COSM2914042	347	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	353	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760524816 CA1793939	354	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs748583869 CA347832751	355	S>C		No	ClinGen ExAC gnomAD
CA1793940 rs748583869	355	S>G		No	ClinGen ExAC gnomAD
CA347832756 rs1277409725	355	S>R		No	ClinGen TOPMed
TCGA novel	356	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1793941 rs772259302	358	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1344704591 CA347832780	359	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA347832815 rs1415372391	364	T>I		No	ClinGen gnomAD
rs868495714 CA52635423	365	T>I		No	ClinGen gnomAD
CA1793942 rs773410146	366	I>T		No	ClinGen ExAC gnomAD
TCGA novel	368	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201372439 CA1793945	369	T>N		No	ClinGen ESP ExAC gnomAD
CA1793947 rs764917021	371	P>L		No	ClinGen ExAC gnomAD
rs759326131 CA1793946	371	P>S		No	ClinGen ExAC gnomAD
rs958089715 RCV001092743	373	V>missing		No	ClinVar dbSNP
CA52635475 rs960511387	375	D>V		No	ClinGen Ensembl
rs943386838 CA52635460	375	D>Y		No	ClinGen TOPMed gnomAD
CA52635485 rs866188873	379	L>F		No	ClinGen gnomAD
CA347832924 rs991513881	382	V>F		No	ClinGen gnomAD
CA52635486 rs991513881	382	V>I		No	ClinGen gnomAD
rs377737921 CA1793954	383	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1793953 rs377737921	383	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	384	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347832940 rs1204882299	385	F>I		No	ClinGen TOPMed
rs1292576415 CA347832958	387	V>A		No	ClinGen TOPMed
rs779119081 CA1793956 COSM722745	387	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1793957 rs748744512	389	V>I		No	ClinGen ExAC gnomAD
TCGA novel	395	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374387223 CA1793958	395	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347833018 rs1558820319	397	G>V		No	ClinGen Ensembl
CA347833025 rs1322875233	398	N>S		No	ClinGen gnomAD
rs773602359 CA52635514	400	G>A		No	ClinGen Ensembl
CA347833036 rs1574390946	400	G>R		No	ClinGen Ensembl
CA52635536 rs868852457 RCV001321527	402	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinVar dbSNP ClinGen Ensembl NCI-TCGA
CA1793961 rs368567533	402	M>L		No	ClinGen ESP ExAC gnomAD
CA1793963 rs759643615	402	M>T		No	ClinGen ExAC gnomAD
CA1793962 rs368567533	402	M>V		No	ClinGen ESP ExAC gnomAD
CA347833058 rs1269596010	404	S>T		No	ClinGen gnomAD
rs1289044362 CA347833088	408	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV001201833 rs1692913716	408	A>V		No	ClinVar dbSNP
CA1793969 rs373666055	410	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373666055 RCV001237950 CA1793968	410	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1201579344 CA347833103	411	A>T		No	ClinGen gnomAD
CA347833108 rs1441141382	412	E>K		No	ClinGen TOPMed
CA347833124 rs1250121138	414	Q>E		No	ClinGen gnomAD
CA347833134 rs1472451101	415	A>T		No	ClinGen gnomAD
CA52635564 rs764756410	416	K>E		No	ClinGen Ensembl
CA1793970 rs750132405	417	I>T		No	ClinGen ExAC TOPMed gnomAD
CA347833156 rs1456528912	418	D>V		No	ClinGen gnomAD
CA1793972 rs371558158	419	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs749949335 CA52635577	419	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1368838041 CA347833183	422	Q>L		No	ClinGen gnomAD
CA347833195 CA1793973 rs752934884	424	M>L		No	ClinGen ExAC gnomAD
rs571419754 CA1793975	425	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs571419754 CA1793974	425	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1793977 rs771172885	427	R>H	Variant assessed as Somatic; 0.0 impact. Achromatopsia 2 (achm2) [NCI-TCGA, Ensembl]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746160928 CA1793979	428	K>E		No	ClinGen ExAC gnomAD
TCGA novel	428	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357820945 CA347833250	432	D>G		No	ClinGen gnomAD
rs762697129 CA1793982	434	E>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1024211 rs758131725 CA1793983	435	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760376435 CA1793987	439	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA347833295 rs1459484455	440	W>*		No	ClinGen TOPMed gnomAD
CA347833296 rs1459484455	440	W>S		No	ClinGen TOPMed gnomAD
CA347833303 rs1272011440	441	F>L		No	ClinGen TOPMed gnomAD
RCV001229585 rs1692918521	442	D>F		No	ClinVar dbSNP
CA347833314 rs1369864738	442	D>V		No	ClinGen gnomAD
CA347833311 rs1166718009	442	D>Y		No	ClinGen gnomAD
CA347833320 rs1309652906	443	Y>C		No	ClinGen gnomAD
RCV001214874 rs1692918950	445	W>*		No	ClinVar dbSNP
rs753123724 CA1793989	445	W>R		No	ClinGen ExAC gnomAD
rs369459783 CA52635658	446	A>T		No	ClinGen ESP TOPMed gnomAD
CA347833343 rs1387591722	447	N>H		No	ClinGen TOPMed
rs1558820514 CA347833350	447	N>K		No	ClinGen Ensembl
rs190014426 CA347833354	448	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs536496690 RCV001203580 CA1793992	450	T>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1558820535 RCV001326504 CA347833374	451	V>E		No	ClinGen ClinVar Ensembl dbSNP
rs1421984583 CA347833371	451	V>M		No	ClinGen Ensembl
rs1253473406 CA347833380	452	D>G		No	ClinGen gnomAD
rs781348502 CA1793994	452	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347833404 rs1482468950	455	E>G		No	ClinGen TOPMed gnomAD
CA347833401 rs1574391242	455	E>Q		No	ClinGen Ensembl
rs1482468950 CA347833405	455	E>V		No	ClinGen TOPMed gnomAD
rs1010663867 CA52635681	456	V>G		No	ClinGen Ensembl
CA1793995 rs745869844	456	V>M		No	ClinGen ExAC gnomAD
rs756391784 CA1793996	458	K>T		No	ClinGen ExAC gnomAD
CA1793997 rs780094581	460	L>F		No	ClinGen ExAC gnomAD
CA347833443 rs1389564330	461	P>L		No	ClinGen gnomAD
CA347833447 rs1157784379	462	D>A		No	ClinGen TOPMed
TCGA novel	463	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347833479 rs1170387198	467	E>K		No	ClinGen gnomAD
rs553056613 CA1793999	468	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347833494 rs117522010	469	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1432354394 CA347833506	471	N>D		No	ClinGen gnomAD
CA52635708 rs373954146	471	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM343008 rs772806640 CA1794003	472	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760052020 CA1794004	473	H>N		No	ClinGen ExAC gnomAD
rs1310881032 CA347833520	473	H>P		No	ClinGen gnomAD
rs765889600 CA1794005	474	L>M		No	ClinGen ExAC gnomAD
CA347833525 rs1256900530	474	L>P		No	ClinGen gnomAD
rs776186575 CA1794006	475	D>G		No	ClinGen ExAC
rs376034278 CA1794007 RCV001059217	476	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1247542945 CA347833539	477	L>V		No	ClinGen gnomAD
rs751916521 CA1794009	481	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1794010 rs201877346	481	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1024213 rs201877346 CA1794011	481	R>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751916521 CA347833566	481	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1794013 rs750539864	482	I>V		No	ClinGen ExAC gnomAD
rs1437228763 CA347833587	484	Q>R		No	ClinGen TOPMed
CA1794015 rs181229773	485	D>E		No	ClinGen 1000Genomes ExAC
CA1794014 rs756200433	485	D>Y		No	ClinGen ExAC gnomAD
rs1379110696 CA347833600	486	C>*		No	ClinGen gnomAD
rs749581280 CA1794016	486	C>G		No	ClinGen ExAC gnomAD
rs786205531 CA52635753	486	C>S		No	ClinGen Ensembl
rs786205531 RCV000171301 CA236063	486	C>Y		No	ClinGen ClinVar Ensembl dbSNP
CA52635771 rs1013072215	488	A>S		No	ClinGen TOPMed gnomAD
COSM722743 CA52635756 rs1013072215	488	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1692923847 RCV001322739	490	L>M		No	ClinVar dbSNP
CA347833624 rs1287769521	490	L>R		No	ClinGen TOPMed
rs1436640566 CA347833642	493	E>D		No	ClinGen gnomAD
rs755182887 CA1794017	493	E>K		No	ClinGen ExAC gnomAD
RCV001201467 CA347833648 rs778681224	495	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1794018 rs778681224	495	V>M		No	ClinGen ExAC TOPMed gnomAD
rs747895951 CA52635788	496	L>V		No	ClinGen ExAC TOPMed gnomAD
CA347833671 rs1386641968	499	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374938560 CA52635800	499	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1794020 rs374938560	499	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347833673 rs1448184686	500	P>T		No	ClinGen TOPMed
CA347833680 rs1326071763	501	T>A		No	ClinGen gnomAD
RCV000521812 rs1326071763 CA347833679	501	T>P		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	502	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201193127 CA1794021	503	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1261714176 CA347833699	504	S>G		No	ClinGen TOPMed
CA347833717 rs1267734152	506	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778000601 CA1794024	507	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1794027 rs759274452	508	Y>F		No	ClinGen ExAC gnomAD
CA1794026 rs200657069	508	Y>H		No	ClinGen 1000Genomes ExAC
rs1692925549 RCV001348872	509	I>V		No	ClinVar dbSNP
CA52635815 rs908111816	510	C>Y		No	ClinGen TOPMed gnomAD
CA347833744 rs1294954096	511	K>Q		No	ClinGen TOPMed gnomAD
rs774888059 CA1794029	513	G>A		No	ClinGen ExAC gnomAD
rs764918448 CA1794028	513	G>R		No	ClinGen ExAC gnomAD
CA1794031 rs767904913	514	D>V		No	ClinGen ExAC
CA347833775 rs1210466505	515	I>S		No	ClinGen TOPMed
rs750937457 CA1794032	515	I>V		No	ClinGen ExAC gnomAD
rs942251497 CA52635830	516	G>A		No	ClinGen TOPMed
CA1794033 rs756642088	516	G>W		No	ClinGen ExAC gnomAD
CA52635844 rs769685214	522	I>L		No	ClinGen Ensembl
rs1457883539 CA347833827	523	N>D		No	ClinGen gnomAD
rs112736405 CA1794039	524	E>K		No	ClinGen ExAC TOPMed gnomAD
rs112736405 CA52635852	524	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000171302 rs786205532 CA236065	525	G>S		No	ClinGen ClinVar Ensembl dbSNP
CA1794040 rs777620322	526	K>M		No	ClinGen ExAC TOPMed
CA1794041 rs143151855 COSM243744	526	K>N	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1794043 rs779023431	527	L>R		No	ClinGen ExAC gnomAD
COSM1410192 rs999564715 CA52635874	529	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1321175890 CA347833875	531	A>G		No	ClinGen gnomAD
CA347833882 RCV000728332 rs1558820799	532	D>V		No	ClinGen ClinVar Ensembl dbSNP
rs775332304 CA1794045	533	D>N		No	ClinGen ExAC gnomAD
CA1794047 rs772389089	533	D>V		No	ClinGen ExAC
CA347833906 rs1481984288	536	T>S		No	ClinGen gnomAD
CA347833922 rs762984332	538	F>L		No	ClinGen ExAC TOPMed gnomAD
rs146200757 CA1794050	539	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	539	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1794049 rs374275399	539	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs946421808 CA52635912	542	S>G		No	ClinGen Ensembl
rs1405438176 CA347833943	542	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA52635917 rs777441841	543	D>E		No	ClinGen ExAC gnomAD
RCV000906074 CA1794055 rs150759499	543	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347833961 rs1307841744	545	S>N		No	ClinGen TOPMed gnomAD
CA347833987 rs1282613813	549	E>*		No	ClinGen gnomAD
rs1245466170 CA347834001	551	S>G		No	ClinGen TOPMed
CA347834010 rs1558820883	552	I>V		No	ClinGen Ensembl
CA1794059 rs745779023	553	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA1794060 rs769473325	554	N>S		No	ClinGen ExAC gnomAD
rs779710464 CA347834027	555	I>F		No	ClinGen ExAC TOPMed gnomAD
rs147873778 CA347834030	555	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147873778 CA1794062	555	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1794061 rs779710464 RCV001344789	555	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768299496 CA1794063	556	K>R		No	ClinGen ExAC gnomAD
rs1309482690 CA347834048	558	S>T		No	ClinGen TOPMed
CA347834054 rs1408329849	559	K>*		No	ClinGen TOPMed
rs1164147578 CA347834057	559	K>T		No	ClinGen gnomAD
rs1396258737 CA347834061	560	S>P		No	ClinGen TOPMed
rs765358532 CA1794069	564	R>S		No	ClinGen ExAC gnomAD
rs751335543 CA1794072	566	A>S		No	ClinGen ExAC gnomAD
CA347834103 rs1249516201	567	N>S		No	ClinGen TOPMed
rs201782746 CA52635975	569	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_071450	570	S>N	probable disease-associated variant found in patients with cone-rod dystrophy [UniProt]	No	UniProt
rs1273110149 CA347834129	571	I>M		No	ClinGen gnomAD
CA1794075 rs750456621	571	I>N		No	ClinGen ExAC TOPMed gnomAD
RCV000265433 rs750456621 CA1794076	571	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1330420689 CA347834136	573	Y>H		No	ClinGen gnomAD
TCGA novel	574	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1794078 rs148867596	575	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553450895 RCV000523487	581	K>missing		No	ClinVar dbSNP
TCGA novel	581	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347834202 rs1363062888	582	D>G		No	ClinGen TOPMed gnomAD
rs768458537 CA347834206	583	D>H		No	ClinGen ExAC TOPMed gnomAD
rs768458537 CA52635990	583	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768458537 CA1794081	583	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs776965941 CA1794083	585	M>V		No	ClinGen ExAC gnomAD
CA1794084 rs746385965	587	A>T		No	ClinGen ExAC gnomAD
CA347834238 rs1442673371	587	A>V		No	ClinGen gnomAD
rs1325838790 CA347834243	588	L>P		No	ClinGen TOPMed
CA1794085 rs770218685	589	T>I		No	ClinGen ExAC gnomAD
rs1414317435 CA347834267	592	P>A		No	ClinGen TOPMed
RCV001321781 CA52636014 rs867965684	595	K>E		No	ClinGen ClinVar dbSNP gnomAD
CA52636022 rs1011255917	597	A>D		No	ClinGen TOPMed
rs567567852 CA52636019 RCV001228133	597	A>T		No	ClinGen ClinVar 1000Genomes dbSNP
CA347834311 rs1434442344	599	E>G		No	ClinGen gnomAD
rs376992789 CA1794091	599	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV001324659 rs372215423	603	R>P		No	ClinVar dbSNP
CA1794094 rs372215423 COSM3695655	603	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1794095 RCV000513020 rs753692812	604	Q>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001236032 rs1692935801	605	I>missing		No	ClinVar dbSNP
CA347834352 rs1412692820	605	I>N		No	ClinGen gnomAD
rs754554042 CA1794096	606	L>M		No	ClinGen ExAC gnomAD
rs923718967 CA52636043	611	L>P		No	ClinGen Ensembl
CA52636052 rs868062344	613	D>V		No	ClinGen Ensembl
CA347834408 rs1369267677	614	E>K		No	ClinGen TOPMed
rs1197317802 CA347834423	616	L>M		No	ClinGen gnomAD
rs939123168 CA52636060	618	R>W		No	ClinGen Ensembl
RCV001043939 CA1794102 rs770308610 COSM243745	619	A>V	lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs200819699 RCV001316225 CA347834454	621	A>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM199144 CA1794107 rs200819699 RCV001053653	621	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA52636073 rs868478353	622	D>N		No	ClinGen gnomAD
rs773176537 CA1794110	624	K>M		No	ClinGen ExAC TOPMed gnomAD
CA347834472 rs1406531016	624	K>N		No	ClinGen gnomAD
CA1794109 rs773176537	624	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766053241 CA1794111	625	D>N		No	ClinGen ExAC gnomAD
rs1349500958 CA347834500	628	E>V		No	ClinGen gnomAD
rs766000572 CA52636086	630	V>M		No	ClinGen Ensembl
CA1794113 rs759375641	634	G>R		No	ClinGen ExAC
rs1249885011 CA347834547	635	S>F		No	ClinGen TOPMed
CA1794114 rs764815361	636	S>F		No	ClinGen ExAC gnomAD
rs370004436 CA1794115	637	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1490638619 CA347834590	643	R>G		No	ClinGen gnomAD
rs374387162 CA347834596	643	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA347834606 rs1574392158	645	A>S		No	ClinGen Ensembl
rs1574392164 CA347834609	645	A>V		No	ClinGen Ensembl
VAR_071451 rs141577844 CA1794119	646	R>H		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA52636109 rs761112764	647	L>F		No	ClinGen TOPMed
CA1794122 rs749868323	652	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1350430003 CA347834655	653	A>G		No	ClinGen gnomAD
rs982245764 CA52636115	653	A>T		No	ClinGen TOPMed gnomAD
CA1794123 rs779058494	655	Q>E		No	ClinGen ExAC gnomAD
rs1391667081 CA347834682	657	K>R		No	ClinGen gnomAD
RCV001048866 rs1692940860	658	M>I		No	ClinVar dbSNP
rs568826347 CA1794125	658	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1553450979 CA347834703 RCV000591237	660	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs760971757 CA1794127	660	Q>R		No	ClinGen ExAC TOPMed gnomAD
RCV001055561 CA1794129 rs183838250	661	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA347834735 rs1421500474	665	L>Q		No	ClinGen TOPMed
rs1225301434 CA347834740	666	E>K		No	ClinGen gnomAD
CA347834747 rs1210322102	667	S>C		No	ClinGen TOPMed gnomAD
rs374834480 CA52636129	667	S>R		No	ClinGen ESP TOPMed gnomAD
CA347834765 rs1196670430	669	V>G		No	ClinGen gnomAD
CA1794132 rs752224900	670	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	671	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440851738 CA347834779	672	G>S		No	ClinGen gnomAD
rs1484475832 CA347834784	672	G>V		No	ClinGen TOPMed
rs574803463 CA1794133	673	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1166619405 CA347834810	676	P>L		No	ClinGen gnomAD
CA1794135 RCV001239559 rs751281453	676	P>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	678	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347834822 rs1574392336	679	D>N		No	ClinGen Ensembl
CA1794136 rs756847787	679	D>V		No	ClinGen ExAC gnomAD
TCGA novel	680	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347834837 rs1395048061	681	E>A		No	ClinGen gnomAD
CA52636147 rs978294893	681	E>D		No	ClinGen Ensembl
CA1794137 rs780484436	681	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1692943291 RCV001300186	682	V>F		No	ClinVar dbSNP
RCV001294773 CA1794139 rs755545093	684	G>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748631419 CA1794141	685	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1357724875 CA347834857	685	D>N		No	ClinGen TOPMed
CA52636159 RCV001235110 rs998041981	687	T>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs772341630 CA1794142	687	T>I		No	ClinGen ExAC gnomAD
TCGA novel	689	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228632947 CA347834892	690	E>G		No	ClinGen gnomAD
CA52636167 rs916233309	692	K>Q		No	ClinGen gnomAD
rs757901022 RCV001301027	694	Q>missing		No	ClinVar dbSNP
rs947764588 RCV001235776 CA52636175	694	Q>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs534095098 CA52636179	695	Q>C		No	ClinGen 1000Genomes
rs1005395745 CA52636177	695	Q>G		No	ClinGen TOPMed

1 associated diseases with Q16281

[MIM: 216900]: Achromatopsia 2 (ACHM2)

An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:15743887, ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:26493561, ECO:0000269|PubMed:9662398}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:15743887, ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:26493561, ECO:0000269|PubMed:9662398}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q16281

Type	Name	Position	InterPro Accession
domain	Cyclic nucleotide-binding domain	482 - 606	IPR000595
domain	Ion transport domain	171 - 409	IPR005821
conserved_site	Cyclic nucleotide-binding, conserved site	509 - 525	IPR018488-1
conserved_site	Cyclic nucleotide-binding, conserved site	547 - 570	IPR018488-2
domain	Cyclic nucleotide-gated channel, C-terminal leucine zipper domain	598 - 668	IPR032406

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
axon initial segment	Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
glial cell projection	A prolongation or process extending from a glial cell.
intracellular cyclic nucleotide activated cation channel complex	A protein complex that forms a transmembrane channel through which cations ions may pass in response to an intracellular cyclic nucleotide binding to the channel complex or one of its constituent parts.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
transmembrane transporter complex	A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other.

6 GO annotations of molecular function

Name	Definition
cGMP binding	Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate).
intracellular cAMP-activated cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when intracellular cAMP has been bound by the channel complex or one of its constituent parts.
intracellular cGMP-activated cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when intracellular cGMP has been bound by the channel complex or one of its constituent parts.
ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein-containing complex binding	Binding to a macromolecular complex.

8 GO annotations of biological process

Name	Definition
cation transmembrane transport	The process in which a cation is transported across a membrane.
cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
inorganic cation import across plasma membrane	The directed movement of inorganic cations from outside of a cell, across the plasma membrane and into the cytosol.
response to cAMP	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
response to corticosteroid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosteroid hormone stimulus. A corticosteroid is a steroid hormone that is produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior. They include glucocorticoids and mineralocorticoids.
response to magnesium ion	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnesium ion stimulus.
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.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q03041	CNGA2	Cyclic nucleotide-gated olfactory channel	Bos taurus (Bovine)	PR
Q00194	CNGA1	cGMP-gated cation channel alpha-1	Bos taurus (Bovine)	PR
Q29441	CNGA3	Cyclic nucleotide-gated cation channel alpha-3	Bos taurus (Bovine)	PR
Q90980		Cyclic nucleotide-gated channel rod photoreceptor subunit alpha	Gallus gallus (Chicken)	PR
Q90805		Cyclic nucleotide-gated channel cone photoreceptor subunit alpha	Gallus gallus (Chicken)	PR
P29973	CNGA1	cGMP-gated cation channel alpha-1	Homo sapiens (Human)	PR
Q16280	CNGA2	Cyclic nucleotide-gated olfactory channel	Homo sapiens (Human)	PR
P29974	Cnga1	cGMP-gated cation channel alpha-1	Mus musculus (Mouse)	PR
Q62398	Cnga2	Cyclic nucleotide-gated olfactory channel	Mus musculus (Mouse)	PR
Q9JJZ8	Cnga3	Cyclic nucleotide-gated cation channel alpha-3	Mus musculus (Mouse)	PR
Q62927	Cnga1	cGMP-gated cation channel alpha-1	Rattus norvegicus (Rat)	PR
Q00195	Cnga2	Cyclic nucleotide-gated olfactory channel	Rattus norvegicus (Rat)	PR
Q9SKD7	CNGC3	Probable cyclic nucleotide-gated ion channel 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SU64	CNGC16	Probable cyclic nucleotide-gated ion channel 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LDR2	CNGC19	Putative cyclic nucleotide-gated ion channel 19	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAKINTQYSH	PSRTHLKVKT	SDRDLNRAEN	GLSRAHSSSE	ETSSVLQPGI	AMETRGLADS
70	80	90	100	110	120
GQGSFTGQGI	ARLSRLIFLL	RRWAARHVHH	QDQGPDSFPD	RFRGAELKEV	SSQESNAQAN
130	140	150	160	170	180
VGSQEPADRG	RSAWPLAKCN	TNTSNNTEEE	KKTKKKDAIV	VDPSSNLYYR	WLTAIALPVF
190	200	210	220	230	240
YNWYLLICRA	CFDELQSEYL	MLWLVLDYSA	DVLYVLDVLV	RARTGFLEQG	LMVSDTNRLW
250	260	270	280	290	300
QHYKTTTQFK	LDVLSLVPTD	LAYLKVGTNY	PEVRFNRLLK	FSRLFEFFDR	TETRTNYPNM
310	320	330	340	350	360
FRIGNLVLYI	LIIIHWNACI	YFAISKFIGF	GTDSWVYPNI	SIPEHGRLSR	KYIYSLYWST
370	380	390	400	410	420
LTLTTIGETP	PPVKDEEYLF	VVVDFLVGVL	IFATIVGNVG	SMISNMNASR	AEFQAKIDSI
430	440	450	460	470	480
KQYMQFRKVT	KDLETRVIRW	FDYLWANKKT	VDEKEVLKSL	PDKLKAEIAI	NVHLDTLKKV
490	500	510	520	530	540
RIFQDCEAGL	LVELVLKLRP	TVFSPGDYIC	KKGDIGKEMY	IINEGKLAVV	ADDGVTQFVV
550	560	570	580	590	600
LSDGSYFGEI	SILNIKGSKS	GNRRTANIRS	IGYSDLFCLS	KDDLMEALTE	YPEAKKALEE
610	620	630	640	650	660
KGRQILMKDN	LIDEELARAG	ADPKDLEEKV	EQLGSSLDTL	QTRFARLLAE	YNATQMKMKQ
670	680	690
RLSQLESQVK	GGGDKPLADG	EVPGDATKTE	DKQQ