AiPD: Autoinhibited Protein Database

Q13085

Gene name	ACACA
Protein name	Acetyl-CoA carboxylase 1
Names	ACC1, Acetyl-Coenzyme A carboxylase alpha, ACC-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:31
EC number	6.4.1.2: Forming carbon-carbon bonds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-121 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-121 (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

7 structures for Q13085

Entry ID	Method	Resolution	Chain	Position	Source
2YL2	X-ray	230 A	A/B	78-617	PDB
3COJ	X-ray	321 A	H/I/J/K/L/M/N/O	1258-1270	PDB
4ASI	X-ray	280 A	A/B/C/D/E/F	1571-2338	PDB
6G2D	EM	540 A	B/C/D/F	1-2346	PDB
6G2H	EM	460 A	A/B/C/D/E/F	1-2346	PDB
6G2I	EM	590 A	A/B/C/D/E/F/G/J/Q/R	1-2346	PDB
AF-Q13085-F1	Predicted				AlphaFoldDB

916 variants for Q13085

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1598113980 RCV001001309 CA399185228	1511	A>T	Acetyl-CoA: carboxylase deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8514532 VAR_028929 rs146351326 RCV001331954	2271	A>V	Acetyl-CoA: carboxylase deficiency frequency <0.004; may play a role in breast cancer susceptibility [ClinVar, UniProt]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA398748958 rs1416837603	4	P>S		No	ClinGen TOPMed gnomAD
CA398748952 rs1416837603	4	P>T		No	ClinGen TOPMed gnomAD
CA8516122 rs764276448	5	S>F		No	ClinGen ExAC gnomAD
CA398748801 rs1378127472	7	L>S		No	ClinGen gnomAD
CA290203180 rs992571763	10	P>R		No	TOPMed ClinGen
rs955765821 CA290203173	12	E>*		No	ClinGen Ensembl
CA290203170 rs912342962	12	E>V		No	ClinGen Ensembl
CA8516121 rs758351768	14	N>K		No	ExAC TOPMed gnomAD ClinGen
rs1333770912 CA398748607	14	N>T		No	ClinGen gnomAD
rs765371478 CA8516119	15	Q>H		No	ExAC gnomAD ClinGen
rs759985588 CA8516118	16	H>R		No	ExAC gnomAD ClinGen
rs986445641 CA290203163	18	R>Q		No	ClinGen Ensembl
CA8516117 rs776955803	19	F>C		No	ExAC gnomAD ClinGen
rs766679093 CA398748423	21	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8516115 rs761199252	21	I>T		No	ExAC gnomAD ClinGen
rs766679093 CA8516116	21	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8516114 rs773638947	26	E>A		No	ClinGen ExAC gnomAD
CA398748322 rs1396001388	26	E>D		No	ClinGen gnomAD
rs1173329483 CA398748290	27	D>G		No	ClinGen TOPMed gnomAD
CA8516113 rs771621569	28	N>Y		No	ExAC gnomAD ClinGen
rs747594591 CA8516112	33	I>N		No	ExAC gnomAD ClinGen
CA8516110 rs768175310	34	S>G		No	ClinGen ExAC TOPMed gnomAD
rs199617800 CA8516109	34	S>R		No	ExAC TOPMed gnomAD ClinGen
rs980360196 CA290203131	44	E>G		No	TOPMed ClinGen
rs758570315 CA8516104	44	E>K		No	ExAC gnomAD ClinGen
rs752687853 CA8516103	45	K>E		No	ClinGen ExAC gnomAD
rs376268815 CA8516102	47	G>A		No	ESP ExAC ClinGen
CA8516101 rs534490482	48	S>F		No	1000Genomes ExAC gnomAD ClinGen
CA290203121 rs945265455	52	A>S		No	gnomAD ClinGen
CA398747723 rs945265455	52	A>T		No	ClinGen gnomAD
rs754016351 CA8516100	54	V>L		No	ExAC gnomAD ClinGen
rs1484403710 CA398747607	57	D>H		No	gnomAD ClinGen
rs1250144327 CA398747550	58	T>I		No	TOPMed gnomAD ClinGen
rs1205016056 CA398747540	59	L>F		No	ClinGen gnomAD
CA290203107 rs1021987943	59	L>P		No	ClinGen TOPMed
rs1276828792 CA398747448	63	G>R		No	gnomAD ClinGen
rs767882917 CA8516096	65	S>C		No	ClinGen ExAC gnomAD
rs773758340 CA8516094	66	S>G		No	ExAC gnomAD ClinGen
rs768174844 CA8516093	66	S>N		No	ClinGen ExAC gnomAD
CA8516090 rs61743749	68	Q>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8516091 rs61743749	68	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781229221 CA8516088	71	L>F		No	ExAC TOPMed gnomAD ClinGen
CA8516089 rs745654513	71	L>V		No	ExAC gnomAD ClinGen
rs1457153858 CA398746947	72	A>G		No	gnomAD ClinGen
CA8516086 rs746914772	75	I>V		No	ClinGen ExAC gnomAD
CA8516085 rs148343710	76	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8516021 rs776759547	77	S>C		No	ClinGen ExAC
rs771163922 CA8516020	81	G>A		No	ExAC gnomAD ClinGen
rs747149074 CA8516019	84	L>P		No	ExAC gnomAD ClinGen
rs758769394 CA8516017	88	G>D		No	ExAC TOPMed gnomAD ClinGen
CA8516018 rs778310964	88	G>S		No	ClinGen ExAC gnomAD
rs748676559 CA8516016	89	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1362492916 CA398758399	90	D>N		No	ClinGen gnomAD
CA398758355 rs1295478922	93	K>E		No	ClinGen gnomAD
rs779546246 CA8516015	98	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8516014 rs754509761	104	S>F		No	ExAC gnomAD ClinGen
CA398758192 rs1309102867	105	P>A		No	gnomAD ClinGen
CA398758073 rs753354765	111	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8516013 rs753354765	111	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1406135409 CA398758016	114	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8516012 rs765993634	118	I>M		No	ExAC TOPMed gnomAD ClinGen
rs1365899062 CA398757185	122	L>V		No	TOPMed ClinGen
CA8515994 rs749721431	125	N>I		No	ClinGen ExAC gnomAD
rs1426186796 CA398757094	126	N>S		No	ClinGen TOPMed
rs1295918798 CA398757054	128	I>T		No	TOPMed ClinGen
rs750137299 CA8515991	134	M>I		No	ClinGen ExAC
CA8515992 rs755525287	134	M>T		No	ExAC gnomAD ClinGen
rs779622678 CA8515993	134	M>V		No	ClinGen ExAC gnomAD
rs780818401 CA8515990	135	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757083555 CA8515989	137	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8515986 rs762978162	149	R>C		No	ClinGen ExAC gnomAD
rs1373213430 CA398756803	149	R>H		No	ClinGen gnomAD
rs1365722225 CA398756730	156	M>I		No	gnomAD ClinGen
rs1360573618 CA398756577	165	N>K		No	ClinGen TOPMed
CA398755228 rs1416516819	174	H>D		No	gnomAD ClinGen
rs988528960 CA290217268	179	P>S		No	ClinGen Ensembl
rs1277419826 CA398754697	190	V>M		No	TOPMed ClinGen
CA8515941 rs764195848	204	A>V		No	ClinGen ExAC TOPMed gnomAD
CA290216571 rs886191729	208	G>D		No	ClinGen TOPMed
CA8515940 rs763424747	210	G>R		No	ExAC gnomAD ClinGen
rs765547129 CA8515938	217	K>R		No	ClinGen ExAC gnomAD
rs760038623 CA8515937	218	L>R		No	ExAC gnomAD ClinGen
rs770486121 CA8515935	219	P>L		No	ClinGen ExAC gnomAD
CA398753847 rs1361322688	220	E>Q		No	TOPMed ClinGen
rs1440467496 CA398753806	221	L>V		No	ClinGen TOPMed
rs1475405186 CA398753729	224	K>R		No	ClinGen gnomAD
CA8515933 rs772954762	226	G>D		No	ExAC TOPMed gnomAD ClinGen
CA8515932 rs771598740	227	I>L		No	ClinGen ExAC gnomAD
CA290216437 rs947341491	227	I>T		No	TOPMed gnomAD ClinGen
CA398753587 rs1347209760	231	G>S		No	TOPMed ClinGen
RCV000592667 rs1555625957 CA398753297	235	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA398753266 rs1300473430	236	A>T		No	TOPMed ClinGen
CA398753217 rs1395724242	238	W>*		No	ClinGen TOPMed
rs145921701 CA290215655	248	I>V		No	ESP ClinGen
CA290215654 rs866354834	250	A>T		No	ClinGen Ensembl
rs956942350 CA290215636	253	A>V		No	ClinGen Ensembl
rs1323587070 CA398752456	259	P>L		No	TOPMed ClinGen
rs543034212 CA8515904	259	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA398752411 rs1448455418	261	S>N		No	gnomAD ClinGen
rs1199763548 CA398752396	262	G>S		No	ClinGen gnomAD
rs748194912 CA8515888	266	R>C		No	ClinGen ExAC TOPMed gnomAD
rs73982299 CA8515887	266	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1341961784 CA398752284	267	V>A		No	ClinGen gnomAD
rs78298005 CA8515885	271	E>G		No	ExAC gnomAD ClinGen
CA8515884 rs754016303	272	N>K		No	ClinGen ExAC gnomAD
CA290214074 RCV000676928 rs760250740	272	N>S		No	TOPMed ClinGen ClinVar dbSNP
CA8515882 rs756440967	273	D>V		No	ClinGen ExAC
CA8515883 rs145479580	273	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs750961546 CA8515879	275	S>L		No	ExAC ClinGen
CA398752145 rs1315285824	276	K>R		No	ClinGen gnomAD
CA290214021 rs768041481	277	R>C		No	ExAC TOPMed gnomAD ClinGen
CA8515876 rs756880093	277	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8515877 rs768041481	277	R>S		No	ExAC TOPMed gnomAD ClinGen
rs752379627 CA290214012	278	I>V		No	TOPMed ClinGen
CA398752069 rs1411842114	280	N>K		No	ClinGen gnomAD
rs763658688 CA8515874	281	V>I		No	ExAC gnomAD ClinGen
rs1162425599 CA398752042	282	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1162425599 CA398752044	282	P>R		No	TOPMed gnomAD ClinGen
rs966657867 CA398751995	286	Y>H		No	TOPMed ClinGen
CA290214004 rs966657867	286	Y>N		No	ClinGen TOPMed
CA8515873 rs762700677	291	V>A		No	ClinGen ExAC gnomAD
rs902768113 CA290213999	294	V>M		No	TOPMed ClinGen
CA398750811 rs763714011 CA8515851	303	E>D		No	ClinGen ExAC TOPMed gnomAD
CA398750784 rs1207451640	305	G>A		No	ClinGen gnomAD
rs368549989 CA8515849	307	P>T		No	ClinGen ESP ExAC TOPMed
CA398750681 rs1225555414	312	A>S		No	gnomAD ClinGen
rs1413377346 CA398750655	314	E>K		No	TOPMed ClinGen
rs759295791 CA8515847	325	N>S		No	ClinGen ExAC gnomAD
CA8515845 rs766047508	329	D>E		No	ClinGen ExAC gnomAD
CA290211538 rs926971900	334	F>L		No	ClinGen Ensembl
CA398750204 rs1345720590	335	R>I		No	TOPMed gnomAD ClinGen
CA290206298 rs898693453	337	V>I		No	ClinGen Ensembl
TCGA novel CA398749531 rs1598350022	342	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1226928248 CA398749461	346	I>T		No	gnomAD ClinGen
rs761607327 CA8515820	346	I>V		No	ExAC gnomAD ClinGen
CA290206282 rs749816431	347	F>L		No	ClinGen Ensembl
CA8515819 rs775670612	353	K>I		No	ExAC gnomAD ClinGen
rs187880919 CA8515818	356	R>H	Variant assessed as Somatic; 0.0004621 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA398748965 rs1343354782	364	A>E		No	TOPMed ClinGen
CA398748961 rs1343354782	364	A>V		No	ClinGen TOPMed
rs776708181 CA8515816	366	Q>*		No	ExAC gnomAD ClinGen
rs938555802 CA290206245	369	N>S		No	ClinGen Ensembl
CA398748658 rs1416116296	376	R>H		No	gnomAD ClinGen
CA398748650 rs1416116296	376	R>P		No	gnomAD ClinGen
CA290206244 rs868327206	378	C>Y		No	ClinGen Ensembl
CA8515814 rs747343847	382	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398748317 rs1355540769	392	P>R		No	ClinGen gnomAD
CA8515812 rs772724727	394	T>A		No	ClinGen ExAC gnomAD
rs1223019292 CA398748256	396	A>G		No	TOPMed ClinGen
rs1223019292 CA398748255	396	A>V		No	TOPMed ClinGen
rs1598349718 CA398748242	397	T>S		No	Ensembl ClinGen
CA398748235 rs1189217176	398	P>S		No	gnomAD ClinGen
CA398747679 rs1476250153	400	V>A		No	ClinGen gnomAD
CA398747688 rs1208790942	400	V>I		No	ClinGen TOPMed gnomAD
rs778490055 CA8515810	401	F>S		No	ClinGen ExAC TOPMed gnomAD
rs754387256 CA8515809	402	E>D		No	ExAC gnomAD ClinGen
rs772497778 CA8515792	407	C>S		No	ClinGen ExAC gnomAD
rs570639605 CA8515791	408	A>V	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8515789 rs768276925	413	K>R		No	ClinGen ExAC gnomAD
rs779492521 CA8515787	418	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398746526 rs1598336728	425	Y>S		No	ClinGen Ensembl
CA398746448 rs1278077744	431	G>D		No	ClinGen TOPMed
CA398746257 rs1365579645	440	P>S		No	ClinGen gnomAD
CA398746266 rs1365579645	440	P>T		No	gnomAD ClinGen
CA398746233 rs1172063879	441	R>Q		No	ClinGen gnomAD
rs1195272849 CA398746071	448	C>S		No	ClinGen gnomAD
rs1007617529 CA290203527	464	I>V		No	ClinGen Ensembl
CA290203522 rs945573971	465	A>V		No	TOPMed ClinGen
rs746760726 CA8515761	471	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA8515762 rs757119063	471	Y>H		No	ExAC TOPMed gnomAD ClinGen
rs777573389 CA8515760	477	R>H		No	ClinGen ExAC gnomAD
rs547613029 CA8515758	478	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8515759 rs758296455	478	M>V		No	ExAC gnomAD ClinGen
CA398744848 rs1223473751	480	Y>C		No	TOPMed ClinGen
CA398744823 rs1360557728	481	G>A		No	ClinGen gnomAD
rs756248367 CA8515756	482	V>A		No	ClinGen ExAC TOPMed gnomAD
CA398744814 rs1567895478	482	V>L		No	Ensembl ClinGen
CA398744806 rs1395589486	483	S>P		No	ClinGen gnomAD
rs113515370 CA290203434	490	I>T		No	Ensembl ClinGen
rs527450835 CA8515755	490	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8515754 rs767602061	491	D>G		No	ClinGen ExAC gnomAD
rs1476878407 CA398744572	492	F>L		No	ClinGen TOPMed
CA290203423 rs953599516	496	A>V		No	Ensembl ClinGen
CA398744440 rs1415604930	497	H>R		No	gnomAD ClinGen
CA398744411 rs1475270333	498	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774611562 CA8515752	501	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA290203410 rs113217661	505	V>A		No	Ensembl ClinGen
CA8515738 rs145246486	532	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781293486 CA8515737	532	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1476796906 CA398743256	552	F>Y		No	ClinGen TOPMed
rs764424925 CA8515734	558	G>S		No	ExAC gnomAD ClinGen
rs1598332761 CA398743103	562	S>A		No	Ensembl ClinGen
CA8515732 rs753246863	563	W>*		No	ClinGen ExAC gnomAD
CA8515731 rs765712715	566	N>D		No	ClinGen ExAC gnomAD
CA398742984 rs1368586900	568	E>G		No	ClinGen gnomAD
CA290203171 rs201407032	570	A>V		No	1000Genomes ClinGen
rs1394120722 CA399194783	574	M>V		No	ClinGen gnomAD
CA399194742 rs1173826983	577	A>V		No	ClinGen gnomAD
rs758814147 CA8515715	584	R>W		No	ExAC ClinGen
rs754309214 CA8515711	602	S>N		No	ExAC ClinGen
rs2229416 CA399194415	604	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279918286 CA399194401	605	M>I		No	ClinGen TOPMed gnomAD
CA8515709 rs760227126	605	M>T		No	ExAC gnomAD ClinGen
rs772779442 CA8515708	606	N>S		No	ExAC gnomAD ClinGen
CA8515706 rs761507364	614	D>G		No	ExAC gnomAD ClinGen
CA8515705 rs774293479	618	A>V		No	ClinGen ExAC gnomAD
CA8515704 rs768514973	620	K>R		No	ExAC gnomAD ClinGen
rs1426709186 CA399194139	623	A>V		No	gnomAD ClinGen
CA8515693 rs755352202	625	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1271028815 CA399194081	628	T>S		No	ClinGen TOPMed
rs755628890 CA8515690	629	M>I		No	ExAC gnomAD ClinGen
rs1567885966 CA399194072	629	M>L		No	Ensembl ClinGen
CA290195686 rs1033690908	632	V>L		No	ClinGen TOPMed gnomAD
CA8515689 rs749970564	633	V>A		No	ExAC gnomAD ClinGen
CA399193903 rs1212759132	643	S>N		No	ClinGen TOPMed gnomAD
rs1248719659 CA399193886	645	R>Q		No	ClinGen gnomAD
rs1318130518 CA399193887	645	R>W		No	TOPMed gnomAD ClinGen
rs564525100 CA8515684	648	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8515661 rs776534091	660	V>L		No	ClinGen ExAC gnomAD
CA399193476 rs1232590485	664	H>Y		No	gnomAD ClinGen
CA8515659 rs761847257	666	L>H		No	ClinGen ExAC gnomAD
CA399193425 rs1288365475	672	V>I		No	gnomAD ClinGen
CA399193408 rs1420320013	674	L>I		No	ClinGen gnomAD
rs1298053579 CA399193378	676	Y>C		No	TOPMed ClinGen
rs1171966677 CA399193336	679	V>A		No	gnomAD ClinGen
rs780482337 CA8515655	684	K>Q		No	ClinGen ExAC gnomAD
rs1258027850 CA399193185	687	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA290195278 rs1017086449	687	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1291512101 CA399193106	692	S>F		No	gnomAD ClinGen
rs781651496 CA8515633	693	Y>C		No	ExAC gnomAD ClinGen
CA8515631 rs747456606	699	G>D		No	ClinGen ExAC TOPMed gnomAD
CA399192974 rs1567878946	699	G>S		No	ClinGen Ensembl
CA290195276 rs747456606	699	G>V		No	ClinGen ExAC TOPMed gnomAD
CA399192965 rs1190148181	700	S>P		No	TOPMed ClinGen
CA399192956 rs1480035133	701	C>R		No	ClinGen TOPMed gnomAD
CA8515630 rs777359428	703	E>*		No	ClinGen ExAC
CA399192885 rs1469908872	706	V>A		No	ClinGen TOPMed
CA8515629 rs757830182	706	V>L		No	ClinGen ExAC gnomAD
CA8515627 rs778395827	708	R>Q		No	ClinGen ExAC gnomAD
rs752457148 CA8515628	708	R>W		No	ExAC TOPMed gnomAD ClinGen
CA399192821 rs1179188931	712	G>C		No	ClinGen gnomAD
CA8515622 rs750269559 CA8515623	713	G>R		No	ClinGen ExAC gnomAD
CA399192630 rs1357098882	725	T>M		No	ClinGen TOPMed gnomAD
CA290195274 rs866691596	727	M>T		No	Ensembl ClinGen
rs1440269243 CA399192561	729	E>*		No	gnomAD ClinGen
CA399192558 rs1375957388	729	E>A		No	gnomAD ClinGen
rs775831954 CA8515619	732	D>N		No	ClinGen ExAC gnomAD
rs1315617695 CA399192213	735	R>C		No	gnomAD ClinGen
CA8515603 rs368461078	736	I>V		No	ClinGen ESP ExAC gnomAD
CA290195153 rs958368248	740	N>I		No	Ensembl ClinGen
CA290195151 rs372047473	746	E>D		No	ESP TOPMed ClinGen
rs1441975392 CA399192140	746	E>Q		No	ClinGen gnomAD
rs767336741 CA8515602	749	N>S		No	ExAC gnomAD ClinGen
rs765343770 CA8515599	755	R>C		No	ExAC TOPMed gnomAD ClinGen
CA399192074 rs1213762568	755	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1489899701 CA399192037	761	K>R		No	ClinGen TOPMed
rs372266247 CA8515596	763	I>S		No	ESP ExAC gnomAD ClinGen
CA399192008 rs1373585066	765	Y>C		No	ClinGen gnomAD
CA399192003 rs1172893764	766	I>V		No	gnomAD ClinGen
rs760913570 CA8515595	768	E>K		No	ClinGen ExAC gnomAD
rs1567876639 CA399191960	772	H>R		No	ClinGen Ensembl
CA8515593 rs201859870	775	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1398886417 CA399191935	776	G>D		No	gnomAD ClinGen
CA8515591 rs773736054	776	G>S		No	ClinGen ExAC gnomAD
rs1340567112 CA399191911	779	Y>F		No	gnomAD ClinGen
rs1166051805 CA399191908	780	A>T		No	ClinGen TOPMed
rs571851148 CA8515590	782	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA399191574 rs1288219329	789	M>I		No	Ensembl ClinGen
rs1255779101 CA399191582	789	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8515577 rs760900283	791	L>V		No	ExAC gnomAD ClinGen
rs1484374901 CA399191538	792	T>R		No	TOPMed gnomAD ClinGen
rs750783133 CA8515575	793	A>T		No	ExAC TOPMed gnomAD ClinGen
rs767853794 CA8515574	794	V>M		No	ExAC gnomAD ClinGen
CA399191495 rs144690330	796	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8515573 rs144690330	796	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA290194992 rs867900231	797	G>D		No	Ensembl ClinGen
CA290194991 rs866118641	798	C>F		No	ClinGen Ensembl
rs774825307 CA8515572	798	C>S		No	ExAC gnomAD ClinGen
rs1213484392 CA399191467	799	I>V		No	Ensembl ClinGen
rs774933750 CA8515569	802	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769364634 CA399191397	804	R>*		No	ExAC gnomAD ClinGen
rs745461213 CA8515567	807	A>T		No	ExAC gnomAD ClinGen
CA8515565 rs770751000	810	D>E		No	ExAC gnomAD ClinGen
rs1446433808 CA399191290	813	C>W		No	ClinGen gnomAD
CA8515563 rs767464451	822	N>K		No	ExAC TOPMed gnomAD ClinGen
CA399191191 rs1333910712	823	P>A		No	gnomAD ClinGen
rs551661583 CA8515562	827	Q>*		No	ClinGen 1000Genomes ExAC
rs376857311 CA8515544	829	A>T		No	ExAC TOPMed gnomAD ClinGen
CA8515543 rs780009894	835	S>G		No	ExAC gnomAD ClinGen
rs17848757 CA8515541	837	P>S		No	ExAC TOPMed gnomAD ClinGen
CA290194961 rs1020383390	838	R>Q		No	TOPMed gnomAD ClinGen
rs2287351 VAR_042941 CA8515540	838	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA8515538 rs556641243	840	Q>R		No	1000Genomes ExAC gnomAD ClinGen
rs764378176 CA8515537	842	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8515534 rs764724711	845	R>G		No	ExAC TOPMed gnomAD ClinGen
rs149367880 CA8515533	845	R>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs149367880 CA8515532	845	R>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs1311425809 CA399190831	850	H>P		No	ClinGen TOPMed
rs1420532221 CA399190780	854	H>R		No	ClinGen gnomAD
CA8515530 rs760360385	855	Y>C		No	ExAC gnomAD ClinGen
rs373046532 CA8515529	858	D>E		No	ClinGen ESP ExAC gnomAD
rs369931668 CA8515528	860	L>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs1275594328 CA399190692	861	V>A		No	ClinGen TOPMed
rs748153062 CA8515527	861	V>I		No	ClinGen ExAC gnomAD
rs774339938 CA8515526	862	N>S		No	ClinGen ExAC gnomAD
rs1261823791 CA399190659	864	M>V		No	ClinGen gnomAD
rs138813669 CA8515523	867	Y>H		No	ESP ExAC ClinGen
CA8515522 rs757477086	869	L>F		No	ClinGen ExAC gnomAD
rs1253579602 CA399190609	870	P>S		No	ClinGen gnomAD
rs889554375 CA290194959	872	P>S		No	ClinGen TOPMed
CA399190573 rs1344713744	875	S>N		No	gnomAD ClinGen
rs867879696 CA290194958	875	S>R		No	ClinGen Ensembl
CA290194957 rs1049369766	876	S>G		No	TOPMed gnomAD ClinGen
rs1292074048 CA399190539	878	V>E		No	ClinGen TOPMed
rs1412394471 CA399190542	878	V>I		No	ClinGen TOPMed
rs17848759 CA8515507	880	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399190510 rs1340915961	882	V>L		No	gnomAD ClinGen
CA8515506 rs776787097	883	E>K		No	ClinGen ExAC gnomAD
rs770987352 CA8515505	884	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1021367953 CA290194827	888	T>P		No	ClinGen Ensembl
rs747301410 CA8515504	890	R>S		No	ExAC gnomAD ClinGen
CA290194826 rs973542577	892	P>A		No	ClinGen Ensembl
CA8515502 rs61738839	892	P>L		No	ClinGen ExAC gnomAD
CA8515501 rs748564377	893	S>P		No	ClinGen ExAC gnomAD
CA8515500 rs779103073	898	E>Q		No	ClinGen ExAC gnomAD
rs1185836172 CA399190385	902	I>V		No	gnomAD ClinGen
CA8515497 rs779767429	903	M>I		No	ExAC gnomAD ClinGen
CA399190374 rs1274047346	903	M>T		No	ClinGen gnomAD
rs376394653 CA8515496	905	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs750139833 CA8515495	905	S>N		No	ClinGen ExAC gnomAD
CA399190340 rs1439694168	909	R>C		No	ClinGen gnomAD
rs1209250188 CA399190330	910	I>T		No	gnomAD ClinGen
CA399190334 rs1287812341	910	I>V		No	ClinGen TOPMed gnomAD
rs761517830 CA8515493	911	P>S		No	ExAC gnomAD ClinGen
rs371689992 CA8515490	912	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8515492 rs371689992	912	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA8515491 rs371689992	912	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399190314 rs1399896076	913	N>K		No	TOPMed ClinGen
rs775288607 CA8515489	913	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8515488 rs771042388	916	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1347979840 CA399190284	918	I>V		No	gnomAD ClinGen
rs1322321131 CA399190277	919	K>E		No	ClinGen gnomAD
CA8515487 rs760725326	919	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399190217 rs1432429115	927	S>R		No	ClinGen TOPMed
rs1310186831 CA399189699	942	A>E		No	ClinGen gnomAD
CA399189646 rs1213865320	945	L>V		No	ClinGen TOPMed
CA399189591 rs1219729297	948	H>R		No	ClinGen gnomAD
rs1195019768 CA399189550	951	T>A		No	TOPMed ClinGen
CA399189514 rs1399070161	953	N>S		No	gnomAD ClinGen
CA8515457 rs200184474	954	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs780906498 CA8515456	956	S>A		No	ExAC gnomAD ClinGen
rs746712529 CA8515454	958	R>Q		No	ExAC gnomAD ClinGen
rs777266593 CA8515453	959	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8515450 rs752525070	964	N>S		No	ClinGen ExAC gnomAD
rs950752967 CA290194579	965	T>A		No	Ensembl ClinGen
rs1296468728 CA399189246	968	I>V		No	ClinGen TOPMed
CA399189192 rs1188381942	972	V>L		No	gnomAD ClinGen
CA399189000 rs1320570490	976	R>*		No	ClinGen gnomAD
rs1223416494 CA399188998	976	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757995857 CA8515434	977	S>T		No	ExAC gnomAD ClinGen
CA399188957 rs1385648978	980	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1307453603 CA399188929	983	M>V		No	ClinGen gnomAD
CA290194274 rs145881392	984	K>N		No	ESP TOPMed ClinGen
CA8515433 rs747744748	985	A>P		No	ExAC gnomAD ClinGen
rs1374590049 CA399188896	986	V>M		No	gnomAD ClinGen
CA399188863 rs778740611	989	D>H		No	ExAC gnomAD ClinGen
rs778740611 CA8515432	989	D>Y		No	ClinGen ExAC gnomAD
CA8515430 rs753815072	992	R>W		No	ExAC gnomAD ClinGen
rs1426412444 CA399188806	994	Y>C		No	ClinGen gnomAD
rs1250989995 CA399188791	996	R>*		No	TOPMed ClinGen
CA8515428 rs756031499	996	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA8515427 rs751622327	1000	Q>K		No	ExAC TOPMed gnomAD ClinGen
CA399188227 rs1467378805	1004	G>D		No	TOPMed gnomAD ClinGen
rs1371530497 CA399188708	1004	G>S		No	gnomAD ClinGen
CA8515411 rs756018152	1006	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8515410 rs140628687	1007	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312049911 CA399188171	1012	A>D		No	ClinGen gnomAD
rs758519292 CA8515408	1012	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA290193502 rs547263573	1013	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA399188166 rs1284150803	1013	L>H		No	gnomAD ClinGen
rs753014287 CA8515407	1014	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs765575240 CA8515406	1022	N>S		No	ExAC gnomAD ClinGen
rs759788508 CA399188092	1023	T>N		No	ExAC gnomAD ClinGen
rs759788508 CA8515405	1023	T>S		No	ExAC gnomAD ClinGen
CA290193500 rs906315931	1026	N>K		No	ClinGen Ensembl
rs376773056 CA8515403	1028	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA8515401 rs773768828	1030	S>C		No	ClinGen ExAC gnomAD
CA8515399 rs151136472	1035	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA399188014 rs151136472	1035	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8515398 rs764365600	1036	K>R		No	ClinGen ExAC gnomAD
rs1022850981 CA290193498	1043	M>I		No	TOPMed ClinGen
CA8515396 rs748873562	1043	M>V		No	ClinGen ExAC gnomAD
CA8515373 rs769524140	1046	D>Y		No	ClinGen ExAC gnomAD
CA8515371 rs372356309	1047	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA399187723 rs1341531724	1051	R>G		No	ClinGen gnomAD
CA399187721 rs1263796007	1051	R>Q		No	ClinGen gnomAD
CA399187699 rs1429729354	1054	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746881633 CA8515369	1055	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8515368 rs779195999	1061	N>I		No	ExAC TOPMed gnomAD ClinGen
CA290192572 rs868867821	1063	L>F		No	ClinGen Ensembl
rs527292313 CA8515366	1069	L>F		No	1000Genomes ExAC gnomAD ClinGen
CA399187601 rs1424520287	1070	S>N		No	TOPMed gnomAD ClinGen
CA8515364 rs756243412	1071	K>R		No	ExAC gnomAD ClinGen
rs750831962 CA8515363	1072	T>I		No	ClinGen ExAC gnomAD
CA399187579 rs1232711239	1073	T>I		No	ClinGen gnomAD
CA399187537 rs1439805556	1080	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs767803117 CA8515362	1080	R>Q		No	ClinGen ExAC gnomAD
CA399187472 rs1282225948	1088	S>F		No	gnomAD ClinGen
rs781602828 CA8515344	1095	L>R		No	ExAC gnomAD ClinGen
rs1429175044 CA399187386	1101	E>Q		No	gnomAD ClinGen
rs1307135107 CA399187340	1108	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1202747256 CA399187259	1118	E>V		No	ClinGen TOPMed
CA8515339 rs752254711	1119	N>I		No	ExAC ClinGen
CA8515340 rs758788930	1119	N>Y		No	ClinGen ExAC gnomAD
CA290192459 rs778664945	1120	L>Q		No	Ensembl ClinGen
CA399187239 rs1175942645	1121	Q>H		No	ClinGen gnomAD
CA399187151 rs1307535315	1133	V>I		No	gnomAD ClinGen
CA8515309 rs754418199	1136	N>D		No	ClinGen ExAC gnomAD
rs988767759 CA290192309	1143	Q>R		No	Ensembl ClinGen
rs769242965 CA290192308	1144	V>A		No	Ensembl ClinGen
rs1598230982 CA399187061	1146	R>G		No	Ensembl ClinGen
rs766155142 CA8515307	1147	M>V		No	ExAC ClinGen
CA399187035 rs1381246206	1149	A>V		No	gnomAD ClinGen
rs755846656 CA8515289	1152	V>M		No	ClinGen ExAC gnomAD
CA290191828 rs886957241	1161	Y>C		No	ClinGen Ensembl
rs1419236798 CA399186800	1165	S>G		No	gnomAD ClinGen
CA8515285 rs751320605	1166	V>L		No	ExAC TOPMed gnomAD ClinGen
CA8515284 rs763968366	1169	R>H		No	ExAC TOPMed gnomAD ClinGen
CA399186766 rs1269027090	1170	Q>E		No	gnomAD ClinGen
CA399186763 rs1362162876	1170	Q>R		No	TOPMed ClinGen
CA399186753 rs927966493	1172	K>E		No	ClinGen TOPMed
rs927966493 CA290191823	1172	K>Q		No	TOPMed ClinGen
rs1490989638 CA399186735	1174	N>T		No	gnomAD ClinGen
rs1259270981 CA399186729	1175	T>A		No	ClinGen gnomAD
CA399186725 rs1238783332	1175	T>S		No	ClinGen TOPMed gnomAD
rs776701888 CA8515282	1176	C>F		No	ClinGen ExAC gnomAD
rs766431055 CA8515281	1177	V>A		No	ExAC gnomAD ClinGen
CA8515278 rs772540852	1190	N>D		No	ClinGen ExAC gnomAD
rs1340371718 CA399186093	1193	N>S		No	TOPMed ClinGen
rs1056165767 CA290189030	1196	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399185656 rs1338264007	1200	M>K		No	gnomAD ClinGen
CA399185560 rs1170349765	1203	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs749437417 CA8515248	1209	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs929238667 CA290188235	1211	M>T		No	ClinGen TOPMed
CA8515247 rs147833219	1211	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8515245 rs758156281	1218	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8515243 rs778846913	1219	D>E		No	ExAC gnomAD ClinGen
rs750477668 CA8515241	1223	D>G		No	ClinGen ExAC gnomAD
rs1344491590 CA399184962	1227	T>A		No	ClinGen gnomAD
rs568918250 CA8515240	1228	P>T		No	1000Genomes ExAC gnomAD ClinGen
CA8515238 rs552644363	1235	G>R		No	1000Genomes ExAC gnomAD ClinGen
rs1285762078 CA399184714	1237	V>I		No	ClinGen TOPMed gnomAD
rs367668853 CA8515236	1240	R>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA399184624 rs367668853	1240	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8515237 rs144494055	1240	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA399184514 rs1363222844	1246	V>A		No	gnomAD ClinGen
rs368681413 CA8515234	1246	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290188204 rs368681413	1246	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567620919 CA8515219	1250	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA399184355 rs1399308924	1253	M>T		No	ClinGen TOPMed gnomAD
rs753124757 CA8515218	1254	G>A		No	ExAC gnomAD ClinGen
CA399184345 rs1438142677	1255	C>S		No	ClinGen TOPMed
rs984323939 CA290187937	1259	S>C		No	TOPMed gnomAD ClinGen
rs984323939 CA399184311	1259	S>F		No	TOPMed gnomAD ClinGen
rs1198804889 CA399184306	1260	P>L		No	ClinGen TOPMed gnomAD
rs760023882 CA8515216	1261	P>T		No	ClinGen ExAC gnomAD
CA399184298 rs1243462510	1262	Q>E		No	ClinGen TOPMed gnomAD
rs139632386 CA8515215	1262	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs150813639 CA8515214	1263	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs902896581 CA290187929	1264	P>A		No	TOPMed gnomAD ClinGen
CA399184268 rs1210153546	1266	F>L		No	gnomAD ClinGen
CA399184261 rs1448330973	1267	P>L		No	TOPMed ClinGen
rs1331520043 CA399184251	1269	A>T		No	TOPMed ClinGen
rs370521249 CA8515213	1269	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA290187923 rs562001906	1270	G>V		No	TOPMed ClinGen
rs1356826964 CA399184233	1272	T>A		No	TOPMed ClinGen
CA399184222 rs1216816898	1274	L>F		No	gnomAD ClinGen
rs778742355 CA8515209	1276	D>G		No	ExAC gnomAD ClinGen
rs1309246891 CA399184195	1277	E>D		No	ClinGen TOPMed
CA8515190 rs768387542	1281	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA399183889 rs1168446793	1282	R>K		No	ClinGen gnomAD
CA399183820 rs1170471117	1292	A>T		No	gnomAD ClinGen
rs1442518909 CA399183813	1293	I>V		No	gnomAD ClinGen
CA399183804 rs1242339352	1294	K>R		No	ClinGen gnomAD
rs1398711019 CA399183794	1295	T>I		No	ClinGen TOPMed
CA399183766 rs1484041972	1299	I>T		No	ClinGen gnomAD
rs749131787 CA8515189	1299	I>V		No	ExAC gnomAD ClinGen
CA290187583 rs79659273	1300	E>*		No	ClinGen Ensembl
rs1567811808 CA399183756	1301	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1203212735 CA399183727	1305	A>T		No	gnomAD ClinGen
rs750729427 CA8515185	1307	M>I		No	ClinGen ExAC TOPMed gnomAD
rs529781817 CA8515186	1307	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs769782234 CA8515187	1307	M>V		No	ClinGen ExAC TOPMed gnomAD
rs758517398 CA8515184	1308	F>L		No	ClinGen ExAC gnomAD
rs141007679 CA290187553	1309	R>G		No	1000Genomes gnomAD ClinGen
CA399183685 rs1229050460	1311	F>S		No	ClinGen gnomAD
CA8515183 rs748425201	1313	Q>E		No	ClinGen ExAC gnomAD
rs1567803536 CA399182919	1317	A>V		No	Ensembl ClinGen
rs1459231139 CA399182914	1318	T>I		No	ClinGen gnomAD
rs957449389 CA290185619	1318	T>S		No	Ensembl ClinGen
CA8515162 rs200877415	1322	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399182892 rs1157866174	1322	H>Y		No	ClinGen gnomAD
rs1196662061 CA399182884	1323	G>E		No	ClinGen gnomAD
rs780539614 CA8515160	1326	R>C		No	ClinGen ExAC TOPMed gnomAD
CA290185615 rs780539614	1326	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399182868 rs1192332321	1326	R>H		No	ClinGen TOPMed gnomAD
CA399182856 rs1208803416	1328	T>N		No	gnomAD ClinGen
CA290185606 rs977410507	1331	V>A		No	ClinGen TOPMed gnomAD
rs1489651676 CA399182840	1331	V>I		No	gnomAD ClinGen
CA8515159 rs756439969	1332	A>V		No	ClinGen ExAC gnomAD
rs1256687913 CA399182765	1339	Q>H		No	gnomAD ClinGen
CA8515139 rs769956207	1340	V>A		No	ClinGen ExAC gnomAD
rs1305702849 CA399182758	1341	N>H		No	gnomAD ClinGen
CA399182752 rs1270234251	1341	N>K		No	ClinGen TOPMed
rs768234335 CA8515138	1341	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781475994 CA8515137	1342	Y>C		No	ExAC gnomAD ClinGen
rs1235514575 CA399182744	1343	E>K		No	ClinGen gnomAD
CA8515136 rs757818935	1346	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA290185493 rs928979250	1346	R>W		No	ClinGen gnomAD
rs894472240 CA290185490	1349	H>Q		No	ClinGen TOPMed
rs771167663 CA8515117	1350	R>G		No	ClinGen ExAC gnomAD
CA399182661 rs1460449524	1352	F>L		No	gnomAD ClinGen
rs747599790 CA8515116	1353	P>L		No	ClinGen ExAC gnomAD
rs758895166 CA8515114	1354	K>N		No	ClinGen ExAC gnomAD
rs1205721237 CA399182617	1359	R>*		No	ClinGen gnomAD
rs1484000480 CA399182616	1359	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778506775 CA8515112	1362	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1436436514 CA399182551	1366	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749001430 CA8515089	1366	E>Q		No	ExAC gnomAD ClinGen
CA399182542 rs1331987821	1368	R>C		No	gnomAD ClinGen
CA8515088 rs779594669	1368	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8515087 rs755753048	1369	I>V		No	ExAC gnomAD ClinGen
rs977697082 CA290181463	1371	R>H		No	gnomAD ClinGen
CA8515084 rs367782238	1375	P>T		No	ESP ExAC gnomAD ClinGen
rs1350580758 CA399182435	1384	N>S		No	gnomAD ClinGen
CA8515082 rs561797701	1385	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478324178 CA399182418	1387	R>G		No	gnomAD ClinGen
rs759633965 CA8515081	1388	N>T		No	ClinGen ExAC gnomAD
CA399182394 rs1190752973	1390	D>Y		No	TOPMed gnomAD ClinGen
CA8515080 rs753870279	1392	T>P		No	ClinGen ExAC gnomAD
CA8515079 rs146088438	1405	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8515076 rs772483773	1412	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8515075 rs762453832	1414	T>A		No	ClinGen ExAC TOPMed gnomAD
rs769240769 CA8515073	1424	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1453633868 CA399182155	1425	A>G		No	TOPMed ClinGen
CA290181324 rs778437609	1435	K>R		No	ClinGen Ensembl
CA8515057 rs774820719	1443	Q>*		No	ExAC gnomAD ClinGen
rs1312720619 CA399182001	1443	Q>R		No	ClinGen TOPMed
rs745553135 CA8515052	1450	L>H		No	ExAC ClinGen
CA8515054 rs774924202	1450	L>I		No	ClinGen ExAC gnomAD
CA8515053 rs745553135	1450	L>P		No	ExAC ClinGen
CA8515051 rs780916002	1451	L>P		No	ClinGen ExAC gnomAD
CA8515050 rs770527109	1453	A>D		No	ExAC ClinGen
rs1473474848 CA399181884	1453	A>S		No	gnomAD ClinGen
rs74458544 CA290180573	1455	D>G		No	Ensembl ClinGen
rs1203568719 CA399181743	1462	N>D		No	ClinGen gnomAD
rs1276060484 CA399181688	1465	N>D		No	gnomAD ClinGen
rs1207728136 CA399181684	1465	N>S		No	ClinGen gnomAD
CA8515046 rs752673905	1467	R>C		No	ExAC gnomAD ClinGen
CA8515045 rs780040348	1467	R>H		No	ClinGen ExAC gnomAD
rs752673905 CA399181660	1467	R>S		No	ExAC gnomAD ClinGen
CA399181583 rs1409064962	1472	H>P		No	ClinGen gnomAD
rs372261380 CA8515043	1479	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1309837371 CA399181494	1479	P>S		No	ClinGen gnomAD
CA399181371 rs1461085260	1487	K>N		No	ClinGen TOPMed
rs76929369 CA290192113	1489	E>*		No	ClinGen Ensembl
rs76929369 CA399185846	1489	E>K		No	ClinGen Ensembl
rs745969915 CA8515026	1490	E>K		No	ExAC gnomAD ClinGen
rs745969915 CA290192112	1490	E>Q		No	ClinGen ExAC gnomAD
rs1019398644 CA290192111	1498	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1161854773 CA399185319	1508	V>I	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA290192110 rs980751656	1517	I>F		No	TOPMed ClinGen
rs762798712 CA290192109	1518	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8515022 rs764599804	1518	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8515019 rs191189754	1520	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8515018 rs759902862	1521	P>L		No	ClinGen ExAC gnomAD
CA8515017 rs776174989	1522	T>A		No	ClinGen ExAC gnomAD
rs1434754460 CA399184887	1523	G>R		No	TOPMed ClinGen
CA399184857 rs1378272956	1524	K>E		No	ClinGen TOPMed
rs765868314 CA8515016	1525	A>T		No	ExAC TOPMed gnomAD ClinGen
rs1270116254 CA399184760	1527	P>L		No	ClinGen gnomAD
rs760357564 CA8515015	1528	I>F		No	ExAC gnomAD ClinGen
rs760357564 CA399184748	1528	I>V		No	ClinGen ExAC gnomAD
CA399184660 rs1567785609	1531	F>S		No	ClinGen Ensembl
CA8515014 rs772831677	1532	L>V		No	ExAC gnomAD ClinGen
rs773575682 CA290192108	1535	E>K		No	ClinGen Ensembl
rs1284549492 CA399184522	1541	D>G		No	ClinGen TOPMed
CA399184488 rs1416595005	1544	L>V		No	gnomAD ClinGen
CA290192106 rs956857024	1550	D>E		No	ClinGen TOPMed
rs573659078 CA8515011	1554	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1319425414 CA399184395	1554	A>V		No	ClinGen gnomAD
rs775587842 CA8514986	1572	L>F		No	ClinGen ExAC gnomAD
CA290190850 rs545396812	1574	N>S		No	1000Genomes ClinGen
CA8514985 rs769812117	1575	T>N		No	ExAC gnomAD ClinGen
rs1243648251 CA399183432	1586	K>E		No	gnomAD ClinGen
CA399183348 rs1417569803	1598	I>V		No	TOPMed ClinGen
rs1314265612 CA399183299	1604	M>I		No	gnomAD ClinGen
CA290190844 rs939295390	1606	R>Q		No	ClinGen TOPMed gnomAD
rs1304734471 CA399183287	1606	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA399183259 rs1375652725	1608	S>F		No	gnomAD ClinGen
rs748449835 CA8514961	1615	S>P		No	ExAC gnomAD ClinGen
CA399183204 rs1598083966	1616	M>I		No	Ensembl ClinGen
rs1259743475 CA399183208	1616	M>T		No	ClinGen TOPMed
CA8514960 rs779027254	1616	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8514958 rs749657231	1620	A>T		No	ExAC TOPMed gnomAD ClinGen
CA399183162 rs1180871598	1623	P>A		No	ClinGen TOPMed
CA8514955 rs746373869	1626	P>A		No	ExAC gnomAD ClinGen
CA8514954 rs780797358	1626	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1157396515 CA399183131	1628	P>L		No	ClinGen TOPMed
CA399183112 rs1567771068	1631	M>I		No	ClinGen Ensembl
rs548981272 CA8514951	1631	M>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1598083747 CA399183114	1631	M>T		No	ClinGen Ensembl
rs548981272 CA290190387	1631	M>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1567771035 CA625844880	1634	Y>*		No	ClinGen Ensembl
rs765118811 CA8514948	1637	L>V		No	ClinGen ExAC gnomAD
CA8514947 rs759587041	1641	D>N		No	ClinGen ExAC TOPMed gnomAD
CA290190379 rs927746556	1642	Q>R		No	Ensembl ClinGen
CA399183037 rs1171975487	1643	G>D		No	ClinGen gnomAD
rs543497362 CA290190376	1643	G>R		No	Ensembl ClinGen
CA399183017 rs1186219138	1646	V>A		No	gnomAD ClinGen
rs774423854 CA8514944	1647	H>Q		No	ClinGen ExAC gnomAD
rs1217296948 CA399182963	1654	G>E		No	ClinGen gnomAD
CA399181972 rs1403103151	1661	A>T		No	gnomAD ClinGen
CA290185566 rs949371213	1663	K>Q		No	Ensembl ClinGen
rs1187390190 CA399181919	1664	M>T		No	ClinGen gnomAD
rs1389316780 CA399181901	1665	T>I		No	TOPMed gnomAD ClinGen
rs1389316780 CA399181903	1665	T>S		No	ClinGen TOPMed gnomAD
rs1486289265 CA399181874	1667	K>R		No	gnomAD ClinGen
rs1163249144 CA399181867	1668	S>G		No	gnomAD ClinGen
rs1475003188 CA399181848	1669	P>L		No	TOPMed ClinGen
CA399181843 rs1283168832	1670	E>Q		No	gnomAD ClinGen
rs753629706 CA8514924	1670	E>V		No	ExAC gnomAD ClinGen
CA290185557 rs865902658	1672	P>L		No	ClinGen Ensembl
rs1476009143 CA399181783	1674	G>D		No	TOPMed gnomAD ClinGen
rs1435392082 CA399181776	1675	R>*		No	TOPMed ClinGen
rs766233446 CA8514923	1676	D>V		No	ExAC TOPMed gnomAD ClinGen
rs774353174 CA8514921	1678	I>M		No	ClinGen ExAC gnomAD
rs760603191 CA8514922	1678	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8514920 rs764157863	1680	I>T		No	ExAC gnomAD ClinGen
CA399181636 rs1415543228	1687	R>*		No	ClinGen gnomAD
CA399181632 VAR_036514 rs1357271377	1687	R>Q	Variant assessed as Somatic; 0.0 impact. a colorectal cancer sample; somatic mutation [NCI-TCGA, UniProt]	No	ClinGen UniProt NCI-TCGA dbSNP gnomAD
CA399181598 rs1306156533	1690	S>A		No	gnomAD ClinGen
CA399181505 rs1326365774	1696	D>N		No	ClinGen TOPMed
CA8514916 rs371471203	1702	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs1165007362 CA399181417	1702	A>V		No	ClinGen gnomAD
rs1260203296 CA399181391	1704	E>D		No	ClinGen gnomAD
rs199723320 CA8514915	1706	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8514913 rs747542690	1710	G>A		No	ExAC gnomAD ClinGen
CA399181321 rs1255086287	1713	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8514912 rs777465482	1715	Y>C		No	ClinGen ExAC gnomAD
CA399181303 rs1289503073	1716	V>I		No	TOPMed gnomAD ClinGen
CA399181301 rs1289503073	1716	V>L		No	ClinGen TOPMed gnomAD
rs778738087 CA8514909	1725	G>R		No	ClinGen ExAC gnomAD
rs1008711456 CA290185496	1730	I>S		No	TOPMed ClinGen
rs1348929671 CA399181203	1731	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399181202 rs1326230435	1731	R>H		No	ClinGen gnomAD
rs367676848 CA8514906	1732	H>R		No	ESP ExAC gnomAD ClinGen
rs1215722090 CA399181171	1735	H>R		No	TOPMed gnomAD ClinGen
CA8514905 rs756074922	1736	V>M		No	ClinGen ExAC gnomAD
rs1186645201 CA399181162	1737	A>T		No	ClinGen TOPMed
rs1289230200 CA399181150	1738	W>*		No	ClinGen gnomAD
CA8514903 rs764212602	1739	V>L		No	ClinGen ExAC gnomAD
CA399181138 rs1567743002	1740	D>G		No	ClinGen Ensembl
rs1454787380 CA399181124	1742	E>G		No	TOPMed ClinGen
rs763045268 CA8514902	1744	P>R		No	ExAC gnomAD ClinGen
rs745671037 CA8514870	1748	Y>C		No	ClinGen ExAC gnomAD
rs1411105163 CA399179737	1749	R>K		No	ClinGen TOPMed gnomAD
rs1411105163 CA399179741	1749	R>T		No	TOPMed gnomAD ClinGen
rs902942640 CA290182199	1754	T>I		No	gnomAD ClinGen
CA290182189 rs1041740066	1761	V>I		No	TOPMed ClinGen
rs1395017787 CA399179605	1763	A>V		No	gnomAD ClinGen
rs1355372881 CA399179604	1764	L>V		No	ClinGen gnomAD
rs1416977281 CA399179598	1765	N>D		No	ClinGen gnomAD
rs1372977221 CA399179594	1765	N>S		No	ClinGen gnomAD
rs933678392 CA290182182	1766	S>Y		No	ClinGen Ensembl
CA399179544 rs1462700403	1772	V>E		No	gnomAD ClinGen
rs1167506850 CA399179545	1772	V>L		No	TOPMed gnomAD ClinGen
CA399179546 rs1167506850	1772	V>M		No	TOPMed gnomAD ClinGen
CA8514866 rs778904786	1776	G>R		No	ClinGen ExAC gnomAD
rs751514712 CA290178781	1781	K>E		No	ClinGen Ensembl
CA8514846 rs779985351	1781	K>R		No	ExAC gnomAD ClinGen
CA399178920 rs1567727259	1784	D>G		No	ClinGen Ensembl
rs756471290 CA8514845	1785	I>T		No	ClinGen ExAC
rs1212719610 CA399178907	1786	I>F		No	gnomAD ClinGen
rs1466564099 CA399178876	1790	E>A		No	TOPMed ClinGen
CA8514844 rs149422324	1792	I>V		No	ESP ExAC TOPMed ClinGen
rs1468501311 CA399178851	1794	P>L		No	gnomAD ClinGen
rs751832882 CA8514841	1795	E>K		No	ExAC gnomAD ClinGen
CA399178835 CA399178834 rs1349144488	1796	N>K		No	TOPMed gnomAD ClinGen
CA399178826 rs1378823015	1798	R>*		No	TOPMed ClinGen
rs1282194505 CA399178819	1799	G>D		No	TOPMed gnomAD ClinGen
rs1337932628 CA399178791	1803	I>T		No	ClinGen TOPMed gnomAD
rs1327997090 CA399178719	1814	I>F		No	ClinGen gnomAD
rs763314872 CA8514839	1815	I>V		No	ClinGen ExAC gnomAD
rs775128489 CA8514838	1817	I>S		No	ClinGen ExAC gnomAD
CA8514837 rs764690846	1818	S>G		No	ExAC gnomAD ClinGen
rs751971187 CA8514824	1821	T>M		No	ExAC TOPMed gnomAD ClinGen
rs1435154885 CA399178650	1823	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs758980216 CA8514822	1823	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs977514437 CA290177751	1833	R>Q		No	ClinGen Ensembl
CA8514819 rs759077561	1836	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA290177743 rs1030043441	1839	I>V		No	TOPMed gnomAD ClinGen
CA399178508 rs975457418	1845	H>L		No	ClinGen TOPMed
CA290177731 rs975457418	1845	H>R		No	TOPMed ClinGen
rs753277238 CA8514818	1846	L>I		No	ClinGen ExAC gnomAD
CA399178469 rs1210593217	1852	G>R		No	gnomAD ClinGen
CA8514816 rs760230103	1853	A>T		No	ExAC TOPMed gnomAD ClinGen
CA290164447 rs996541210	1859	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA8514801 rs753404505	1860	R>Q		No	ExAC gnomAD ClinGen
CA8514802 rs755418013	1860	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8514798 rs150075920	1866	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs940997669 CA290164427	1868	Q>*		No	Ensembl ClinGen
CA8514797 rs767150155	1872	I>V		No	ClinGen ExAC gnomAD
CA399175783 rs1416561539	1877	N>K		No	ClinGen gnomAD
CA399175716 rs1225096539	1882	H>Q		No	ClinGen gnomAD
CA8514795 rs774224315	1884	T>A		No	ClinGen ExAC gnomAD
rs764143991 CA8514794	1884	T>I		No	ClinGen ExAC gnomAD
CA399175681 rs762974491	1885	V>A		No	ClinGen ExAC gnomAD
rs762974491 CA8514793	1885	V>G		No	ExAC gnomAD ClinGen
CA399175588 rs1326546754	1892	V>F		No	TOPMed gnomAD ClinGen
rs770889550 CA8514791	1894	T>A		No	ClinGen ExAC gnomAD
rs748364574 CA8514770	1906	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1359280936 CA399175349	1907	H>R		No	ClinGen gnomAD
CA399175345 rs1319297011	1908	S>R		No	ClinGen gnomAD
CA8514769 rs774737349	1910	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8514768 rs768985773	1911	P>A		No	ClinGen ExAC gnomAD
CA8514766 rs780459419	1915	S>A		No	ClinGen ExAC gnomAD
CA399175289 rs1394668053	1917	D>Y		No	gnomAD ClinGen
CA8514764 rs745386290	1918	P>R		No	ClinGen ExAC gnomAD
CA399175273 rs1259764745	1919	I>T		No	gnomAD ClinGen
rs969108683 CA290163768	1919	I>V		No	ClinGen TOPMed
CA8514762 rs756931447	1922	I>F		No	ExAC TOPMed gnomAD ClinGen
rs1368373306 CA399175253	1922	I>N		No	ClinGen TOPMed
rs1016405393 CA290163763	1923	I>V		No	ClinGen Ensembl
CA8514760 rs777514862	1924	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399175233 rs1208437763	1925	F>C		No	ClinGen gnomAD
rs758296113 CA8514759	1925	F>L		No	ClinGen ExAC gnomAD
rs752470706 CA8514758	1926	V>A		No	ExAC TOPMed gnomAD ClinGen
rs765097577 CA8514757	1933	D>N		No	ExAC TOPMed gnomAD ClinGen
rs759503745 CA8514756	1935	R>Q		No	ClinGen ExAC
rs767603620 CA8514754	1937	M>L		No	ExAC gnomAD ClinGen
CA399175145 rs1213108729	1939	A>T		No	TOPMed ClinGen
CA290163725 rs1010211195	1941	R>C		No	TOPMed gnomAD ClinGen
CA8514752 rs774579864	1941	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8514751 rs140706026	1942	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399175118 rs1467782908	1943	H>Q		No	ClinGen gnomAD
CA8514750 rs763313915	1943	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1417700554 CA399175117	1944	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA399175094 rs1417120275	1945	T>N		No	ClinGen gnomAD
CA290160706 rs137950037	1946	Q>R		No	ClinGen ESP
rs1249331544 CA399175073	1948	G>V		No	gnomAD ClinGen
CA8514731 rs200119596	1952	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399175026 rs1212599940	1955	F>L		No	ClinGen TOPMed gnomAD
rs76269006 CA290160669	1956	D>Y		No	ClinGen Ensembl
CA290160663 rs376253466	1957	Y>C		No	ClinGen ESP
CA399174995 rs1334756390	1959	S>C		No	gnomAD ClinGen
CA290160657 rs1027320768	1960	F>V		No	ClinGen Ensembl
CA399174990 rs1429867356	1960	F>Y		No	ClinGen TOPMed
CA399174949 rs1169079467	1965	Q>H		No	TOPMed ClinGen
rs994873289 CA290160628	1968	A>S		No	ClinGen Ensembl
CA399174924 rs1352418047	1969	Q>R		No	TOPMed ClinGen
CA8514729 rs777222860	1970	T>A		No	ClinGen ExAC TOPMed gnomAD
CA399174918 RCV000585528 rs1555553200	1970	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA290416979 rs960675363	1981	I>V		No	ClinGen Ensembl
rs374163033 CA8514696	1985	V>A		No	ESP ExAC gnomAD ClinGen
rs745777494 CA8514695	1986	V>A		No	ExAC gnomAD ClinGen
CA290416969 rs1008546064	1987	A>T		No	ClinGen TOPMed
rs1298775841 CA399241450	1991	R>*		No	ClinGen TOPMed gnomAD
CA399241451 rs1298775841	1991	R>G		No	TOPMed gnomAD ClinGen
CA399241449 rs1401576459	1991	R>Q		No	ClinGen TOPMed gnomAD
CA290416960 rs267604825	1998	P>S		No	Ensembl ClinGen
rs1311839437 CA399241333	2009	K>E		No	ClinGen TOPMed gnomAD
rs1171526892 CA399241330	2009	K>R		No	ClinGen TOPMed
rs141258772 CA8514682	2010	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187652170 CA399241263	2017	V>L		No	gnomAD ClinGen
CA399241217 rs1288845675	2023	A>V		No	TOPMed ClinGen
rs773678503 CA8514678	2026	T>M		No	ClinGen ExAC gnomAD
CA290416542 rs181617224	2029	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA399241179 rs181617224	2029	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA8514674 rs769558872	2030	I>T		No	ClinGen ExAC gnomAD
CA290416536 rs924110533	2031	K>R		No	Ensembl ClinGen
CA399241158 rs1381101667	2032	D>G		No	ClinGen gnomAD
CA8514672 rs781108413	2034	N>S		No	ClinGen ExAC gnomAD
rs745617971 CA8514673	2034	N>Y		No	ClinGen ExAC gnomAD
rs995823287 CA290416490	2039	P>S		No	TOPMed ClinGen
rs868305862 CA290416482	2041	M>I		No	ClinGen Ensembl
CA399241073 rs1392881137	2045	N>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755296755 CA8514668	2051	G>S		No	ExAC gnomAD ClinGen
rs1452594233 CA399240915	2065	A>G		No	ClinGen TOPMed gnomAD
CA399240896 rs1376108098	2068	V>L		No	TOPMed ClinGen
CA399240865 rs1240336563	2072	R>S		No	ClinGen gnomAD
CA399240864 rs1214770889	2073	E>K		No	gnomAD ClinGen
CA290412865 rs1012206730	2082	I>V		No	Ensembl ClinGen
CA399240789 rs1193946316	2084	P>A		No	TOPMed gnomAD ClinGen
rs1193946316 CA399240788	2084	P>S		No	TOPMed gnomAD ClinGen
CA8514651 rs768632814	2085	Q>H		No	ExAC gnomAD ClinGen
rs866308390 CA290412859	2086	A>S		No	ClinGen Ensembl
CA399240772 rs1597854745	2086	A>V		No	ClinGen Ensembl
rs780454825 CA8514649	2096	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1271488627 CA399240711	2096	I>T		No	TOPMed ClinGen
rs1264716666 CA399240700	2098	S>T		No	gnomAD ClinGen
CA8514648 rs756354779	2099	S>F		No	ExAC gnomAD ClinGen
rs1399725559 CA399240672	2102	P>S		No	ClinGen gnomAD
rs750865509 CA8514647	2103	R>Q		No	ClinGen ExAC gnomAD
CA290412836 rs771997534	2105	M>L		No	ClinGen ExAC gnomAD
CA8514646 rs771997534	2105	M>V		No	ExAC gnomAD ClinGen
CA290412831 rs929219706	2106	E>D		No	TOPMed ClinGen
CA399240640 rs1377341025	2107	M>L		No	ClinGen TOPMed gnomAD
CA399240620 rs1190187245	2109	A>V		No	TOPMed ClinGen
rs981281419 CA290412812	2111	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8514644 rs751992975	2111	R>Q		No	ExAC gnomAD ClinGen
CA399240560 rs1314185008	2117	V>I		No	ClinGen gnomAD
CA399240542 rs1352851528	2120	P>A		No	ClinGen gnomAD
rs1478106922 CA399240510	2125	E>K		No	ClinGen gnomAD
rs149099304 CA8514625	2127	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399240477 rs1567673018	2129	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs746081598 CA8514624	2131	K>Q		No	ExAC gnomAD ClinGen
CA399240434 rs1362506796	2135	K>N		No	TOPMed ClinGen
CA8514623 rs781662105	2138	R>C		No	ExAC gnomAD ClinGen
rs145087711 CA8514622	2138	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778168950 CA8514621	2139	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA14420415 rs1309843714	2140	V>M		No	ClinGen gnomAD
rs1382993871 CA399240384	2144	Y>H		No	ClinGen TOPMed
rs201499562 CA399240341	2150	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes TOPMed gnomAD ClinGen NCI-TCGA
rs764725252 CA8514617	2150	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA8514599 rs199873625	2152	G>E		No	ExAC TOPMed gnomAD ClinGen
rs754490571 CA8514597	2156	L>V		No	ExAC gnomAD ClinGen
rs543619103 CA8514596	2159	A>D		No	1000Genomes ExAC gnomAD ClinGen
CA8514593 rs149967550	2161	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8514594 rs765969361	2161	R>W		No	ClinGen ExAC TOPMed gnomAD
rs140015255 CA8514591	2168	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8514589 rs774440712	2171	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs761898003 CA8514590	2171	R>W		No	ExAC gnomAD ClinGen
CA290407954 rs916781855	2180	H>D		No	Ensembl ClinGen
rs746235470 CA8514585	2184	V>L		No	ExAC TOPMed gnomAD ClinGen
CA8514586 rs746235470	2184	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1487523663 CA399239958	2185	Q>*		No	ClinGen gnomAD
rs773626536 CA399239917	2190	H>Q		No	ExAC TOPMed gnomAD ClinGen
rs760949725 CA8514584	2190	H>R		No	ClinGen ExAC
rs772441784 CA399239916	2191	D>H		No	ExAC gnomAD ClinGen
rs772441784 CA8514582	2191	D>N		No	ClinGen ExAC gnomAD
rs1232687330 CA399239889	2195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399239890 rs1273138717	2195	R>W		No	gnomAD ClinGen
rs557935555 CA8514580 CA399239886	2196	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325479340 CA399239866	2198	E>G		No	ClinGen gnomAD
rs1422491925 CA399239851	2200	G>D		No	TOPMed ClinGen
rs769102238 CA8514579	2201	V>I		No	ExAC gnomAD ClinGen
CA8514560 rs779486123	2205	I>T		No	ExAC gnomAD ClinGen
rs532842342 CA8514559	2207	D>Y		No	ExAC TOPMed gnomAD ClinGen
CA399239760 rs1165714087	2212	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs925478860 CA290407900	2212	R>H		No	Ensembl ClinGen
CA399239751 rs1464505136	2213	T>I		No	ClinGen gnomAD
rs1462630145 CA399239746	2214	F>S		No	TOPMed ClinGen
CA399239741 rs1479025160	2215	F>L		No	gnomAD ClinGen
rs1301964880 CA399239713	2218	R>Q		No	TOPMed gnomAD ClinGen
CA399239717 rs1235894936	2218	R>W		No	gnomAD ClinGen
CA290407898 rs761713389	2221	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399239698 rs1413590831	2221	R>H		No	ClinGen gnomAD
CA399239657 rs1258679583	2228	V>L		No	ClinGen gnomAD
CA8514554 rs777710816	2230	K>T		No	ClinGen ExAC gnomAD
rs139634742 CA8514552	2234	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs945810726 CA290407897	2237	P>R		No	Ensembl ClinGen
rs1411877563 CA399239551	2243	Q>P		No	gnomAD ClinGen
CA399239500 rs1188789283	2250	R>H		No	ClinGen gnomAD
rs1425988366 CA399239492	2251	W>L		No	ClinGen TOPMed gnomAD
CA399239436 rs1400155657	2259	V>A		No	ClinGen gnomAD
CA399239358 rs1487450572	2268	K>Q		No	ClinGen gnomAD
rs750543369 CA8514529	2272	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399239305 rs757533009	2275	E>D		No	ClinGen ExAC TOPMed gnomAD
rs199660893 CA8514528	2275	E>K		No	ExAC gnomAD ClinGen
rs199660893 CA399239311	2275	E>Q		No	ClinGen ExAC gnomAD
rs751791094 CA8514526	2277	Q>K		No	ClinGen ExAC gnomAD
CA8514525 rs764154873	2278	L>M		No	ExAC ClinGen
rs148363467 CA8514524	2279	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765817896 CA8514522	2282	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1338525913 CA399239250	2284	V>L		No	gnomAD ClinGen
CA8514519 rs144385756	2285	H>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA399239245 rs144385756	2285	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs770581681 CA8514518	2286	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770581681 CA399239234	2286	S>W		No	ExAC TOPMed gnomAD ClinGen
CA399239221 rs1435475925	2288	I>M		No	TOPMed gnomAD ClinGen
CA399239223 rs1453314950	2288	I>T		No	TOPMed ClinGen
rs1431541423 CA399239210	2290	E>K		No	gnomAD ClinGen
rs1273961984 CA399239158	2297	R>G		No	ClinGen TOPMed
rs772950790 CA8514516	2298	D>N		No	ExAC gnomAD ClinGen
CA8514512 rs754974464	2300	V>G		No	ExAC gnomAD ClinGen
rs191340454 CA8514513	2300	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8514514 rs191340454	2300	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1220323938 CA399239102	2305	R>C		No	TOPMed gnomAD ClinGen
CA8514508 rs751550256	2305	R>H		No	ExAC gnomAD ClinGen
CA399239059 rs1189421531	2309	Q>H		No	TOPMed ClinGen
CA399239051 rs1567639282	2311	N>D		No	ClinGen Ensembl
rs749014571 CA8514492	2311	N>S		No	ExAC TOPMed gnomAD ClinGen
CA290403237 rs1043827135	2314	V>I		No	ClinGen TOPMed gnomAD
CA8514490 rs769667328	2323	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8514487 rs758710765	2324	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA399238941 rs1422853244	2326	I>M		No	ClinGen gnomAD
rs752879865 CA8514486	2326	I>V		No	ClinGen ExAC gnomAD
CA8514483 rs754207906	2328	P>R		No	ExAC gnomAD ClinGen
CA8514484 rs532675084	2328	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8514481 rs761233539	2330	Q>H		No	ClinGen ExAC gnomAD
CA8514482 rs767043398	2330	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs750017606 CA399238918	2331	R>*		No	ClinGen ExAC gnomAD
CA8514480 rs750017606	2331	R>G		No	ClinGen ExAC gnomAD
CA8514479 rs766921857	2331	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs761328732 CA8514478	2332	A>T		No	ClinGen ExAC gnomAD
rs1567639068 CA399238902	2334	V>I		No	Ensembl ClinGen
rs1313744444 CA399238893	2335	I>T		No	ClinGen gnomAD
rs946793052 CA290403207	2335	I>V		No	ClinGen TOPMed
CA8514476 rs773877053	2336	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399238889 rs1057348	2336	R>W		No	ClinGen TOPMed gnomAD
rs1264749635 CA399238880	2337	I>M		No	ClinGen TOPMed gnomAD
CA399238859 rs1447423679	2341	M>L		No	gnomAD ClinGen
rs762756380 CA8514474	2346	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD

1 associated diseases with Q13085

[MIM: 613933]: Acetyl-CoA carboxylase 1 deficiency (ACACAD)

An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. {ECO:0000269|PubMed:6114432}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. {ECO:0000269|PubMed:6114432}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q13085

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q13085

Functions

		Description
EC Number	6.4.1.2	Forming carbon-carbon bonds
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

4 GO annotations of molecular function

Name	Definition
acetyl-CoA carboxylase activity	Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.

9 GO annotations of biological process

Name	Definition
acetyl-CoA metabolic process	The chemical reactions and pathways involving acetyl-CoA, a derivative of coenzyme A in which the sulfhydryl group is acetylated; it is a metabolite derived from several pathways (e.g. glycolysis, fatty acid oxidation, amino-acid catabolism) and is further metabolized by the tricarboxylic acid cycle. It is a key intermediate in lipid and terpenoid biosynthesis.
cellular response to prostaglandin E stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a prostagladin E stimulus.
fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.
fatty-acyl-CoA biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty-acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with a fatty-acyl group.
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
malonyl-CoA biosynthetic process	The chemical reactions and pathways resulting in the formation of malonyl-CoA, the S-malonyl derivative of coenzyme A.
protein homotetramerization	The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.
protein metabolic process	The chemical reactions and pathways involving a protein. Includes protein modification.
tissue homeostasis	A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P11029	ACAC	Acetyl-CoA carboxylase	Gallus gallus (Chicken)	PR
O00763	ACACB	Acetyl-CoA carboxylase 2	Homo sapiens (Human)	PR
E9Q4Z2	Acacb	Acetyl-CoA carboxylase 2	Mus musculus (Mouse)	PR
Q5SWU9	Acaca	Acetyl-CoA carboxylase 1	Mus musculus (Mouse)	PR
P11497	Acaca	Acetyl-CoA carboxylase 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDEPSPLAQP	LELNQHSRFI	IGSVSEDNSE	DEISNLVKLD	LLEEKEGSLS	PASVGSDTLS
70	80	90	100	110	120
DLGISSLQDG	LALHIRSSMS	GLHLVKQGRD	RKKIDSQRDF	TVASPAEFVT	RFGGNKVIEK
130	140	150	160	170	180
VLIANNGIAA	VKCMRSIRRW	SYEMFRNERA	IRFVVMVTPE	DLKANAEYIK	MADHYVPVPG
190	200	210	220	230	240
GPNNNNYANV	ELILDIAKRI	PVQAVWAGWG	HASENPKLPE	LLLKNGIAFM	GPPSQAMWAL
250	260	270	280	290	300
GDKIASSIVA	QTAGIPTLPW	SGSGLRVDWQ	ENDFSKRILN	VPQELYEKGY	VKDVDDGLQA
310	320	330	340	350	360
AEEVGYPVMI	KASEGGGGKG	IRKVNNADDF	PNLFRQVQAE	VPGSPIFVMR	LAKQSRHLEV
370	380	390	400	410	420
QILADQYGNA	ISLFGRDCSV	QRRHQKIIEE	APATIATPAV	FEHMEQCAVK	LAKMVGYVSA
430	440	450	460	470	480
GTVEYLYSQD	GSFYFLELNP	RLQVEHPCTE	MVADVNLPAA	QLQIAMGIPL	YRIKDIRMMY
490	500	510	520	530	540
GVSPWGDSPI	DFEDSAHVPC	PRGHVIAARI	TSENPDEGFK	PSSGTVQELN	FRSNKNVWGY
550	560	570	580	590	600
FSVAAAGGLH	EFADSQFGHC	FSWGENREEA	ISNMVVALKE	LSIRGDFRTT	VEYLIKLLET
610	620	630	640	650	660
ESFQMNRIDT	GWLDRLIAEK	VQAERPDTML	GVVCGALHVA	DVSLRNSVSN	FLHSLERGQV
670	680	690	700	710	720
LPAHTLLNTV	DVELIYEGVK	YVLKVTRQSP	NSYVVIMNGS	CVEVDVHRLS	DGGLLLSYDG
730	740	750	760	770	780
SSYTTYMKEE	VDRYRITIGN	KTCVFEKEND	PSVMRSPSAG	KLIQYIVEDG	GHVFAGQCYA
790	800	810	820	830	840
EIEVMKMVMT	LTAVESGCIH	YVKRPGAALD	PGCVLAKMQL	DNPSKVQQAE	LHTGSLPRIQ
850	860	870	880	890	900
STALRGEKLH	RVFHYVLDNL	VNVMNGYCLP	DPFFSSKVKD	WVERLMKTLR	DPSLPLLELQ
910	920	930	940	950	960
DIMTSVSGRI	PPNVEKSIKK	EMAQYASNIT	SVLCQFPSQQ	IANILDSHAA	TLNRKSEREV
970	980	990	1000	1010	1020
FFMNTQSIVQ	LVQRYRSGIR	GHMKAVVMDL	LRQYLRVETQ	FQNGHYDKCV	FALREENKSD
1030	1040	1050	1060	1070	1080
MNTVLNYIFS	HAQVTKKNLL	VTMLIDQLCG	RDPTLTDELL	NILTELTQLS	KTTNAKVALR
1090	1100	1110	1120	1130	1140
ARQVLIASHL	PSYELRHNQV	ESIFLSAIDM	YGHQFCIENL	QKLILSETSI	FDVLPNFFYH
1150	1160	1170	1180	1190	1200
SNQVVRMAAL	EVYVRRAYIA	YELNSVQHRQ	LKDNTCVVEF	QFMLPTSHPN	RGNIPTLNRM
1210	1220	1230	1240	1250	1260
SFSSNLNHYG	MTHVASVSDV	LLDNSFTPPC	QRMGGMVSFR	TFEDFVRIFD	EVMGCFSDSP
1270	1280	1290	1300	1310	1320
PQSPTFPEAG	HTSLYDEDKV	PRDEPIHILN	VAIKTDCDIE	DDRLAAMFRE	FTQQNKATLV
1330	1340	1350	1360	1370	1380
DHGIRRLTFL	VAQKDFRKQV	NYEVDRRFHR	EFPKFFTFRA	RDKFEEDRIY	RHLEPALAFQ
1390	1400	1410	1420	1430	1440
LELNRMRNFD	LTAIPCANHK	MHLYLGAAKV	EVGTEVTDYR	FFVRAIIRHS	DLVTKEASFE
1450	1460	1470	1480	1490	1500
YLQNEGERLL	LEAMDELEVA	FNNTNVRTDC	NHIFLNFVPT	VIMDPSKIEE	SVRSMVMRYG
1510	1520	1530	1540	1550	1560
SRLWKLRVLQ	AELKINIRLT	PTGKAIPIRL	FLTNESGYYL	DISLYKEVTD	SRTAQIMFQA
1570	1580	1590	1600	1610	1620
YGDKQGPLHG	MLINTPYVTK	DLLQSKRFQA	QSLGTTYIYD	IPEMFRQSLI	KLWESMSTQA
1630	1640	1650	1660	1670	1680
FLPSPPLPSD	MLTYTELVLD	DQGQLVHMNR	LPGGNEIGMV	AWKMTFKSPE	YPEGRDIIVI
1690	1700	1710	1720	1730	1740
GNDITYRIGS	FGPQEDLLFL	RASELARAEG	IPRIYVSANS	GARIGLAEEI	RHMFHVAWVD
1750	1760	1770	1780	1790	1800
PEDPYKGYRY	LYLTPQDYKR	VSALNSVHCE	HVEDEGESRY	KITDIIGKEE	GIGPENLRGS
1810	1820	1830	1840	1850	1860
GMIAGESSLA	YNEIITISLV	TCRAIGIGAY	LVRLGQRTIQ	VENSHLILTG	AGALNKVLGR
1870	1880	1890	1900	1910	1920
EVYTSNNQLG	GIQIMHNNGV	THCTVCDDFE	GVFTVLHWLS	YMPKSVHSSV	PLLNSKDPID
1930	1940	1950	1960	1970	1980
RIIEFVPTKT	PYDPRWMLAG	RPHPTQKGQW	LSGFFDYGSF	SEIMQPWAQT	VVVGRARLGG
1990	2000	2010	2020	2030	2040
IPVGVVAVET	RTVELSIPAD	PANLDSEAKI	IQQAGQVWFP	DSAFKTYQAI	KDFNREGLPL
2050	2060	2070	2080	2090	2100
MVFANWRGFS	GGMKDMYDQV	LKFGAYIVDG	LRECCQPVLV	YIPPQAELRG	GSWVVIDSSI
2110	2120	2130	2140	2150	2160
NPRHMEMYAD	RESRGSVLEP	EGTVEIKFRR	KDLVKTMRRV	DPVYIHLAER	LGTPELSTAE
2170	2180	2190	2200	2210	2220
RKELENKLKE	REEFLIPIYH	QVAVQFADLH	DTPGRMQEKG	VISDILDWKT	SRTFFYWRLR
2230	2240	2250	2260	2270	2280
RLLLEDLVKK	KIHNANPELT	DGQIQAMLRR	WFVEVEGTVK	AYVWDNNKDL	AEWLEKQLTE
2290	2300	2310	2320	2330	2340
EDGVHSVIEE	NIKCISRDYV	LKQIRSLVQA	NPEVAMDSII	HMTQHISPTQ	RAEVIRILST

MDSPST