AiPD: Autoinhibited Protein Database

Q07889

Gene name	SOS1
Protein name	Son of sevenless homolog 1
Names	SOS-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6654
EC number
Protein Class	GUANINE NUCLEOTIDE EXCHANGE FACTOR (PTHR23113)

Descriptions

The translocation of Son of Sevenless 1 (SOS1) protein to the plasma membrane enables activation of membrane-bound Ras, which is a vital regulator of cell proliferation and differentiation. The autoinhibitory conformation of SOS1 consists of the histone domain, the Dbl homology (DH), the Pleckstrin homology (PH) domain, and PH-Rem helical linker. SOS is inactive by the DH-PH unit, which blocks allosteric Ras binding. In addition, the histone domain plays a dual role in occluding the allosteric site and in stabilizing the autoinhibitory conformation of the DH-PH unit. Autoinhibition of the catalytic domain of SOS is released by enhancing the density of PIP2 and the local concentration of Ras-GTP, consequently increasing the activity of SOS at the membrane.

Autoinhibitory domains (AIDs)

Target domain	776-1020 (Ras guanine-nucleotide exchange factors catalytic domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment, Structural analysis

AID

200-390 (DH domain)

Target domain

776-1020 (Ras guanine-nucleotide exchange factors catalytic domain)

Relief mechanism

Partner binding (Ras binding to allosteric site)

Assay

Mutagenesis experiment, Structural analysis

Target domain	776-1020 (Ras guanine-nucleotide exchange factors catalytic domain)
Relief mechanism	Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

443-548 (PH domain)

Target domain

776-1020 (Ras guanine-nucleotide exchange factors catalytic domain)

Relief mechanism

Ligand binding (PIP2 binding to the PH domain)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Tartaglia M et al. (2010) "Noonan syndrome: clinical aspects and molecular pathogenesis", Molecular syndromology, 1, 2-26

Sondermann H et al. (2004) "Structural analysis of autoinhibition in the Ras activator Son of sevenless", Cell, 119, 393-405

Gureasko J et al. (2010) "Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless", Proceedings of the National Academy of Sciences of the United States of America, 107, 3430-5

Autoinhibited structure

Activated structure

88 structures for Q07889

Entry ID	Method	Resolution	Chain	Position	Source
1AWE	NMR	-	A	422-551	PDB
1BKD	X-ray	280 A	S	568-1044	PDB
1DBH	X-ray	230 A	A	198-551	PDB
1NVU	X-ray	220 A	S	566-1046	PDB
1NVV	X-ray	218 A	S	566-1046	PDB
1NVW	X-ray	270 A	S	566-1046	PDB
1NVX	X-ray	320 A	S	566-1046	PDB
1Q9C	X-ray	321 A	A/B/C/D/E/F/G/H/I	1-191	PDB
1XD2	X-ray	270 A	C	566-1049	PDB
1XD4	X-ray	364 A	A/B	198-1049	PDB
1XDV	X-ray	410 A	A/B	198-1044	PDB
2II0	X-ray	202 A	A	564-1049	PDB
3KSY	X-ray	318 A	A	1-1049	PDB
4NYI	X-ray	296 A	S	566-1046	PDB
4NYJ	X-ray	285 A	S	566-1046	PDB
4NYM	X-ray	355 A	S	566-1046	PDB
4URU	X-ray	283 A	S	564-1049	PDB
4URV	X-ray	258 A	S	564-1049	PDB
4URW	X-ray	276 A	S	564-1049	PDB
4URX	X-ray	249 A	S	564-1049	PDB
4URY	X-ray	247 A	S	564-1049	PDB
4URZ	X-ray	224 A	S	564-1049	PDB
4US0	X-ray	217 A	S	564-1049	PDB
4US1	X-ray	265 A	S	564-1049	PDB
4US2	X-ray	248 A	S	564-1049	PDB
5OVD	X-ray	190 A	A	560-1049	PDB
5OVE	X-ray	185 A	A	560-1049	PDB
5OVF	X-ray	201 A	A	560-1049	PDB
5OVG	X-ray	230 A	A	560-1049	PDB
5OVH	X-ray	230 A	A	560-1049	PDB
5OVI	X-ray	220 A	A	560-1049	PDB
5WFO	X-ray	199 A	N	566-1046	PDB
5WFP	X-ray	208 A	N	566-1046	PDB
5WFQ	X-ray	226 A	N	566-1046	PDB
5WFR	X-ray	246 A	N	566-1046	PDB
6BVI	X-ray	175 A	B	566-1046	PDB
6BVJ	X-ray	175 A	B	566-1046	PDB
6BVK	X-ray	180 A	B	566-1046	PDB
6BVL	X-ray	175 A	B	566-1046	PDB
6BVM	X-ray	180 A	B	566-1046	PDB
6CUO	X-ray	173 A	B	566-1046	PDB
6CUP	X-ray	183 A	B	566-1046	PDB
6CUR	X-ray	173 A	B	566-1046	PDB
6D55	X-ray	168 A	B	566-1046	PDB
6D56	X-ray	168 A	B	566-1046	PDB
6D59	X-ray	170 A	B	566-1046	PDB
6D5E	X-ray	175 A	B	566-1046	PDB
6D5G	X-ray	192 A	B	566-1046	PDB
6D5H	X-ray	180 A	B	566-1046	PDB
6D5J	X-ray	175 A	B	566-1046	PDB
6D5L	X-ray	170 A	B	566-1046	PDB
6D5M	X-ray	208 A	S	566-1046	PDB
6D5V	X-ray	204 A	S	566-1046	PDB
6D5W	X-ray	248 A	S	566-1046	PDB
6EPL	X-ray	255 A	S	563-1049	PDB
6EPM	X-ray	250 A	S	563-1049	PDB
6EPN	X-ray	250 A	S	563-1049	PDB
6EPO	X-ray	240 A	S	563-1049	PDB
6EPP	X-ray	240 A	S	563-1049	PDB
6F08	X-ray	190 A	D/K/N/Q	1155-1167	PDB
6SCM	X-ray	187 A	A	564-1049	PDB
6SFR	X-ray	192 A	A/B	564-1049	PDB
6V94	X-ray	180 A	B	566-1046	PDB
6V9F	X-ray	185 A	B	566-1046	PDB
6V9J	X-ray	176 A	B	566-1046	PDB
6V9L	X-ray	170 A	B	566-1046	PDB
6V9M	X-ray	165 A	B	566-1046	PDB
6V9N	X-ray	165 A	B	566-1046	PDB
6V9O	X-ray	180 A	B	566-1046	PDB
6Y44	X-ray	171 A	P	1155-1167	PDB
7AVI	X-ray	193 A	A/B	564-1049	PDB
7AVL	X-ray	172 A	A/B	564-1049	PDB
7AVS	X-ray	228 A	A/B	564-1049	PDB
7AVT	X-ray	188 A	A/B	564-1049	PDB
7AVU	X-ray	210 A	A/B	564-1049	PDB
7AVV	X-ray	212 A	A	564-1049	PDB
7KFZ	EM	347 A	B	564-1049	PDB
7UKR	X-ray	250 A	A/B	564-1049	PDB
7UKS	X-ray	229 A	A	564-1049	PDB
8BE2	X-ray	190 A	S	564-1049	PDB
8BE4	X-ray	190 A	S	564-1049	PDB
8BE5	X-ray	313 A	AAZA	564-1049	PDB
8BE6	X-ray	290 A	S	564-1049	PDB
8BE7	X-ray	300 A	S	564-1049	PDB
8BE8	X-ray	240 A	S	564-1049	PDB
8BE9	X-ray	251 A	S	564-1049	PDB
8BEA	X-ray	247 A	S	564-1049	PDB
AF-Q07889-F1	Predicted				AlphaFoldDB

878 variants for Q07889

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000389511 CA10615444 RCV000330632 rs886056026	2	Q>L	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346374768 RCV001331442 rs781093356 RCV001863242	8	Y>F	RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001711220 rs139592595 RCV000521504 RCV000154848 CA181527	25	P>S	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000038509 CA136074 RCV001143267 VAR_066031 RCV000159147 RCV001813278 rs150565592 RCV001143269 RCV001703446	37	T>A	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 4 a patient with Noonan syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000681137 RCV000702263 CA1624856 rs375934353	39	E>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA297244 RCV000514749 RCV000460292 rs201352584	78	F>C	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA136101 RCV000541335 rs397517157 RCV000680318 RCV000038533	82	I>V	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000545153 CA346373979 rs730881054	85	W>R	RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs397517161 CA136114 RCV000038539 RCV001800334	94	I>T	Stroke [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs144757941 CA1624825 RCV000761049 RCV000523770 RCV001561950	94	I>V	Noonan syndrome RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1558493384 RCV000702580 CA346373912	95	E>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000544063 VAR_066032 rs1553362937 CA346373860	102	P>R	RASopathy NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA261739 RCV000537356 VAR_030423 RCV000038546 rs397517164 RCV000159144 RCV001813280	108	E>K	Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA261741 RCV000038549 rs397517166 VAR_066033	112	P>R	Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs201085754 RCV000520887 RCV000038552 CA136140	117	V>G	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755770649 RCV000780745 RCV001856190 CA1624798	126	V>I	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1671228827 RCV001253142	143	K>E	Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000329053 rs886042206 CA10603936 RCV000764408	163	K>E	Fibromatosis, gingival, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000476014 VAR_066034 RCV000157689 RCV000038560 RCV000624105 rs397517172 CA235342	170	K>E	Noonan syndrome RASopathy Noonan syndrome 4 (ns4) Inborn genetic diseases NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001781357 RCV000788003 rs397517174 CA261743 RCV000038562	171	V>A	Noonan syndrome and Noonan-related syndrome Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000466303 CA136165 rs397517174 RCV000624181 RCV000038563	171	V>G	RASopathy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000520723 RCV000260347 RCV001813360 RCV000038564 RCV000589048 RCV000319957 rs143962515 CA136168	185	I>V	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000654937 rs1553362269	186	L>missing	RASopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002006352 CA297250 rs730881038	187	S>Y	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000358698 RCV000268538 CA1624759 rs199898869 RCV000213944	196	S>L	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA297253 RCV001141422 RCV001141421 RCV000704276 RCV000159154 rs730881039	215	Y>H	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001852807 RCV000038567 rs397517176 CA136177	223	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001772336 CA46013326 RCV001858924 RCV001141420 rs889231089 RCV001192793 RCV001141419	224	K>E	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001852680 RCV000038568 CA136180 rs397517177	230	F>V	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000724504 rs144934321 RCV001201323 RCV001261071 RCV000521733 CA246107	233	N>S	RASopathy Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1057519963 RCV000444257 CA16602968 RCV000425749	233	N>Y	Malignant neoplasm of body of uterus Lung adenocarcinoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001138836 rs1671008499 RCV001138837	244	N>D	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000654921 CA346367803 rs1324979194	249	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA136183 RCV001813282 rs139290271 RCV000157705 RCV000228572 RCV001261072 RCV000038569	250	V>A	Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000586619 rs142094234 CA1624725 VAR_066035	252	I>T	NS4 [UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001858031 RCV000523181 CA346367712 rs1310500908 RCV001269235	263	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000213007 rs137852812 VAR_030424 RCV000515403 CA256578 RCV000038570 RCV000013729 RCV000149833	266	T>K	Fibromatosis, gingival, 1 RASopathy Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs137852813 RCV000157691 RCV000211854 RCV000554031 VAR_030425 CA235346 RCV000013730	269	M>R	Noonan syndrome RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 4 NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000487454 RCV000622587 VAR_064504 rs137852813 CA235344 RCV000157690 RCV000539275 RCV000208414	269	M>T	RASopathy Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 Inborn genetic diseases NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000414064 RCV001331444 CA16042459 rs1057517871	277	P>T	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001030077 rs1671004485 RCV001759719	282	C>R	RASopathy [ClinVar]	Yes	ClinVar dbSNP
CA346367581 RCV001861896 RCV000681410 RCV001255587 rs1222945881	283	F>L	RASopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346367578 rs1572855029 RCV001029808	283	F>S	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001813446 CA1624692 rs779162761 RCV000323255	297	S>L	Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000606984 RCV000307592 RCV000800167 RCV000362251 rs754374236 CA1624690	300	R>Q	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs397517180 RCV001813362 RCV000038575 RCV001852808 RCV000255002 CA261746 VAR_030426	309	D>Y	Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000349172 rs143481916 RCV000038577 CA136190 RCV000394772	310	R>H	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1624669 RCV000511020 rs758546951	327	I>V	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000654955 rs756679265 CA1624667	329	E>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000226933 rs765028553 CA1624662	336	Q>R	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA090930 rs724160007 RCV000149848 RCV000154291	337	Y>C	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000588783 CA1624660 RCV000536024 rs190222208	340	P>S	RASopathy Noonan syndrome 4 (ns4) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000680311 RCV000764407 RCV001857575 rs730881040 RCV001197010 CA297256	366	D>E	Fibromatosis, gingival, 1 RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA45675707 rs1056080833 RCV000685795	366	D>V	RASopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000482668 VAR_066036 rs397517146 CA261714 RCV000038510	378	T>A	Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs138459502 CA297301 RCV000556655 RCV000159188	423	N>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs730881041 RCV000159159 CA297259 VAR_066038	424	E>K	NS4 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000159161 VAR_030428 rs267607080 CA256582 RCV000013733 RCV000211853	432	W>R	Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA915943756 RCV000826185 rs1572830693	432	W>R	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000467110 CA235348 VAR_030429 RCV000157692 rs397517147 RCV000038513	433	E>K	RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs730881048 RCV000159179 CA297278 VAR_066041	434	G>K	RASopathy NS4; requires 2 nucleotide substitutions [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000626886 rs397517148 VAR_030430 RCV000038514 CA261717	434	G>R	Pulmonic stenosis Noonan syndrome Noonan syndrome 4 (ns4) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs397517150 VAR_066042 CA261719 RCV000159164 RCV000038516 RCV000474085	437	I>T	RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_030431 rs727504295 CA273441	441	C>Y	NS4 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs730880218 RCV000157508 CA346677	451	T>K	Cafe au lait spots, multiple [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs730880218 RCV000587209 CA1624603 RCV000471377	451	T>R	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1060503524 RCV000474019 CA16610835	457	H>R	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000038517 CA261721 RCV001813355 rs397517151	471	C>S	Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000159168 VAR_064505 rs730881044 CA297270	477	Q>R	NS4 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001813553 rs1553356111 VAR_066044 RCV000788276 CA346366181	478	P>R	Noonan syndrome and Noonan-related syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA346366159 VAR_066045 rs1431574387	482	G>R	NS4 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV001143161 RCV000656980 rs371314838 RCV000038519 RCV001143160 RCV000801491 RCV001813356 VAR_064506 RCV000156991 RCV000986624 CA136083	497	R>Q	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 4 Noonan syndrome 1 NS4; one patient with Noonan syndrome also carries a likely pathogenic mutation Ser-261 in RAF1; the mutant protein cannot induce ERK1 phosphorylation [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000593003 rs201404055 RCV001261086 CA346365963	510	Y>H	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000217384 CA1624582 rs761094509 RCV000764406	522	N>H	Fibromatosis, gingival, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000350752 CA1624579 rs146722878 RCV000578082	525	I>T	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA346365782 rs1363908468 RCV001280902	536	N>S	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001859538 rs746798986 CA1624573 RCV000373537	542	I>M	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000588660 RCV000414260 RCV001865285 CA16042484 rs981234810 RCV001807244	543	S>P	Stroke RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA234977 VAR_030432 rs397517149	548	S>R	NS4 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000681394 RCV001172277 rs1558474335 CA346365698	549	T>A	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066047 RCV000159173 CA297273 RCV000696409 rs730881046	549	T>K	RASopathy NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000038520 CA261724 RCV000550001 rs397517153 RCV000159172 VAR_030433	550	L>P	RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs137852814 CA235350 VAR_030434 RCV000157693 RCV000156980 RCV000159174 RCV000515160 RCV000013731	552	R>G	Fibromatosis, gingival, 1 RASopathy Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_030435 RCV000159175 RCV000157017 rs397517154 RCV000587705 CA261726	552	R>K	Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 3 Noonan syndrome 3 (ns3) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA16616762 VAR_066048 rs397517154 RCV000685882 RCV000484403	552	R>M	RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 3 (ns3) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000038525 RCV000149832 RCV000213008 CA261730 RCV000515298 VAR_030436 rs267607079	552	R>S	Fibromatosis, gingival, 1 RASopathy Noonan syndrome Noonan syndrome 4 (ns4) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000159177 RCV000856746 RCV000654947 CA256580 RCV000156992 RCV000013732 RCV000787998 rs267607079 RCV000763086	552	R>S	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 Noonan syndrome 1 [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1572830219 RCV000986623	552	R>missing	Noonan syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000626887 CA261728 RCV000528274 RCV000159176 VAR_066049 RCV000208093 rs397517154	552	R>T	Noonan syndrome RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 3 (ns3) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA16042455 RCV000414145 RCV000787999 rs137852814	552	R>W	Noonan syndrome and Noonan-related syndrome Noonan syndrome 4 (ns4) [ClinVar, Ensembl]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000375653 RCV000337250 CA10613342 rs886056025	553	M>I	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001141310 rs757341897 RCV001141309	554	L>I	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
CA346365661 RCV000680632 rs753909912 RCV001172274	556	V>I	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1393222137 RCV001330105 CA346365631	561	E>K	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs200786705 VAR_066051 CA1624560 RCV001813290 RCV000986622 RCV000223591 RCV000521508 RCV001529772	569	L>V	Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA183765 RCV000155902 RCV000284494 RCV000764405 RCV000654926 RCV000376698 RCV000586070 rs727504641	574	V>I	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757213444 RCV000606527 CA1624554 RCV000523182	591	N>S	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs373139450 CA45674350 RCV000698499	600	I>L	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs776146535 RCV000654933 CA1624544	610	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1624541 RCV000654972 rs775105134	617	M>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000788002 CA891862608 rs1572823606	623	F>E	Noonan syndrome and Noonan-related syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000788001 rs727505093 RCV000856753 RCV001196815 CA346365197 VAR_066052	623	F>I	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs727505093 RCV000770761 CA185039 RCV000414349 RCV000156537	623	F>V	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1624516 rs769891933 RCV000475259	644	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs200712930 CA1624490 RCV000518853	670	L>F	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1060503525 CA16610834 RCV000461901	671	S>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs966388444 RCV000695974 CA45661534	697	V>L	RASopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000695973 rs765074047 CA45661533	699	H>Q	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000156979 CA273696 RCV000159124 rs727505381 VAR_030438	702	Y>H	Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA267620 rs483352826 RCV000414070 RCV000106329	713	R>Q	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001587319 RCV001290370 CA1624459 rs367634525	720	T>A	Noonan syndrome 4 (ns4) Noonan syndrome 4 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142666652 CA1624457 RCV000552706	722	R>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000159126 RCV000495874 rs397517156 CA261731 RCV000038531	728	K>I	Noonan syndrome Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000159127 CA297205 rs574088829 VAR_030440 RCV000587797	733	I>F	Noonan syndrome 3 Noonan syndrome 3 (ns3) NS4 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
RCV000703796 rs557328600 CA1624432	771	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346364148 rs1176763588 RCV000723318	772	E>D	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1624430 rs778580742 RCV001197237	782	I>V	Fibromatosis, gingival, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000760994 RCV001143784 RCV001813295 CA136098 rs142004123 RCV000680310 RCV000233902 RCV000038532 RCV001138721	791	L>I	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome Noonan syndrome 4 (ns4) Noonan syndrome 4 [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000038534 CA136104 RCV001852806 rs397517158 RCV001753449	830	N>I	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs397517158 RCV000159131 RCV000556321 CA297213	830	N>S	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000763085 CA261734 rs397517159 RCV000471633 RCV000207492 VAR_030441 RCV000038535	846	E>K	Fibromatosis, gingival, 1 RASopathy Noonan syndrome NS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1553353452 CA346363312 RCV000612075	891	E>K	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1367714753 RCV000680809 CA346363274 VAR_066055	894	P>R	NS4 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000855655 RCV001543367 CA1624337 rs369277679 RCV000587071 RCV001030079	910	D>H	RASopathy Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000313293 RCV000370733 rs886056024 CA10615442	930	F>S	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1558460847 RCV001855769 CA346362592 RCV000732278	946	E>Q	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000588458 CA346361609 RCV001860138 rs1553351453	982	R>Q	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000586941 RCV000038541 rs202043599 CA136120 RCV000654932	989	R>K	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs397517163 CA261736 RCV000038544	1008	Y>H	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000156997 rs8192671 RCV001143051 RCV001573416 RCV001813300 VAR_066056 RCV000038545 RCV001143050 RCV000128186 CA136129	1011	N>S	Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1572806229 CA346361316 RCV000789009	1023	P>R	Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1668861106 RCV001331443	1031	Y>C	Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001200895 rs1668859370	1045	P>R	Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
CA346360905 RCV000681093 rs1428068201 RCV001261113	1066	S>T	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1624238 rs775100470 RCV001984833	1077	A>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs387906518 RCV000013728	1084	R>missing	Fibromatosis, gingival, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000703261 rs1558459711	1087	L>missing	RASopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001143047 RCV000780744 CA1624230 rs376722127 RCV000547835 RCV000761177 RCV001565036 RCV001143046	1096	S>T	Fibromatosis, gingival, 1 Noonan syndrome RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 4 [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs727505379 RCV000159180 RCV000156973 CA273690	1097	S>T	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1668850707 RCV001269287	1100	D>Y	Noonan syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
CA1624224 rs199856844 RCV000333119 RCV000825457 RCV000234075	1108	D>N	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000363574 rs754314057 RCV001855075 CA1624205	1117	N>S	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1342428273 RCV001871894 RCV001336850 CA346359860	1124	V>I	RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000678905 RCV000795979 RCV001572449 VAR_066057 CA1624182 rs768113420	1131	R>K	Noonan syndrome RASopathy a patient with Noonan syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000592644 RCV000577966 VAR_066058 RCV000463473 rs375550588 CA1624178	1140	L>I	RASopathy Noonan syndrome 4 (ns4) Noonan syndrome 4 a patient with Noonan syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000156982 rs727505383 CA273699	1145	D>N	Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA346359704 rs1558455818 RCV000706044	1147	V>A	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1022820895 CA45641449 RCV001068927	1162	A>V	RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001141202 CA1624145 RCV001141203 rs747534810	1198	I>V	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141594736 RCV000459983 CA297240 RCV000159143	1200	D>E	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000780753 RCV001543370 rs752395541 RCV001868304 CA1624141 RCV000681122	1201	R>W	RASopathy Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001138624 RCV001138625 CA1624132 RCV000520194 rs776814547	1220	V>M	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs777373438 RCV001859536 RCV000371601 RCV001261114 CA1624127	1233	L>I	RASopathy Noonan syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000680364 RCV001857535 rs727504636 RCV000155897 CA183755	1236	P>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000345549 RCV000525329 RCV000764404 rs371408734 CA1624123 RCV000379826	1237	P>A	Fibromatosis, gingival, 1 RASopathy Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002221483 CA136149 RCV000523675 RCV000038555 rs371408734	1237	P>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000038556 RCV000680313 rs367693130 RCV000540046 CA136152	1241	K>E	RASopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000778617 rs1558454973	1242	S>missing	Fibromatosis, gingival, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001867910 CA346362449 rs1293079271 RCV000587660	1242	S>G	RASopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA297196 RCV000159118 rs730881026 RCV000231740	1243	D>E	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs972166211 RCV000475839 RCV000593291 CA16610833	1255	P>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000550544 rs779336305 CA1624114	1260	P>A	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs886056023 RCV000384964 CA10615441 RCV000288278	1265	S>A	Fibromatosis, gingival, 1 Noonan syndrome 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000693949 CA1624106 rs758258471	1279	T>I	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000465195 RCV000414348 rs750296853 CA1624097	1302	I>T	RASopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs371024396 CA297292 RCV000461078 RCV000159185	1316	H>D	RASopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553349464 CA346361951 RCV001858033 RCV000521073	1320	H>Q	RASopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA46022011 rs587781174	2	Q>*		No	ClinGen ExAC gnomAD
CA1624908 rs587781174	2	Q>E		No	ClinGen ExAC gnomAD
rs533757634 CA1624907	3	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745455374 CA1624906	3	A>V		No	ClinGen ExAC gnomAD
rs770627276 CA1624904	4	Q>R		No	ClinGen ExAC gnomAD
rs749077460 CA1624903	6	L>P		No	ClinGen ExAC TOPMed gnomAD
rs755983212 CA1624901	7	P>L		No	ClinGen ExAC gnomAD
CA1624900 rs781093356	8	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA46022010 rs765768180	9	E>D		No	ClinGen gnomAD
CA346374765 rs1347187972 RCV000680743	9	E>K		No	ClinGen ClinVar TOPMed dbSNP
rs1347187972 CA346374764	9	E>Q		No	ClinGen TOPMed
CA346374720 rs751776207	12	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751776207 CA1624898	12	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1454378065 CA346374712	12	S>R		No	ClinGen gnomAD
CA1624897 rs766698773	13	E>Q		No	ClinGen ExAC gnomAD
CA1624895 rs750790046	14	E>G		No	ClinGen ExAC gnomAD
rs777196517 CA1624892	18	K>M		No	ClinGen ExAC gnomAD
CA346374639 rs777196517	18	K>R		No	ClinGen ExAC gnomAD
rs771423136 CA1624891	21	G>R		No	ClinGen ExAC gnomAD
CA1624890 rs773916713	22	L>V		No	ClinGen ExAC gnomAD
CA346374563 rs1303622703	26	A>S		No	ClinGen gnomAD
RCV000413861 CA16042460 rs1057517867	28	K>R		No	ClinGen ClinVar Ensembl dbSNP
rs764501046 CA1624858	32	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10602879 rs886041928 RCV000384120	35	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA346374321 rs1295255931	37	T>I		No	ClinGen gnomAD
CA346374318 rs1242664084	38	L>F		No	ClinGen gnomAD
CA346374310 rs1391761076	39	E>V		No	ClinGen gnomAD
CA346374293 rs1402273679	42	D>N		No	ClinGen gnomAD
CA346374288 rs1329027771	42	D>V		No	ClinGen gnomAD
rs730881052 CA297289 RCV000159184	43	D>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346374262 rs1190714377	46	Q>R		No	ClinGen TOPMed gnomAD
CA346374257 rs1418446263	47	Y>H		No	ClinGen gnomAD
rs373898570 CA234979	48	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764909346 CA1624854	48	V>I		No	ClinGen ExAC gnomAD
CA346374227 rs1458813036	51	L>S		No	ClinGen gnomAD
CA46014819 rs763520126	54	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA46014818 rs765764610	57	N>Y		No	ClinGen TOPMed gnomAD
CA1624851 rs746906388	58	M>T		No	ClinGen ExAC gnomAD
CA346374173 rs1442738935	59	L>I		No	ClinGen TOPMed
CA346374154 rs1355644577	61	Q>H		No	ClinGen gnomAD
CA1624849 rs557722218	63	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA346374132 rs1303674298	65	R>*		No	ClinGen TOPMed
rs1221581719 CA346374121	66	S>R		No	ClinGen TOPMed
rs730881053 RCV000159186 CA297295	67	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346374118 rs1445719629	67	A>V		No	ClinGen gnomAD
CA346374107 rs1558497933	69	D>A		No	ClinGen Ensembl
CA1624848 rs771172095	69	D>H		No	ClinGen ExAC gnomAD
rs772133124 CA1624828	73	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV000681438 rs1292587800 CA346374056	74	V>I		No	ClinGen ClinVar dbSNP gnomAD
CA346374055 rs1292587800	74	V>L		No	ClinGen gnomAD
rs786205522 RCV000171289 CA236037	75	Q>L		No	ClinGen ClinVar Ensembl dbSNP
rs1217237678 CA346374016	79	P>R		No	ClinGen TOPMed gnomAD
CA346374004 rs1170908990	81	P>S		No	ClinGen TOPMed
CA346373997 rs1278714177	82	I>T		No	ClinGen gnomAD
rs749485750 CA346373991	83	D>A		No	ClinGen ExAC TOPMed gnomAD
rs749485750 CA1624826	83	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1401325594 CA346373994	83	D>N		No	ClinGen gnomAD
CA346373986 rs1319777416	84	K>E		No	ClinGen TOPMed
CA346373978 rs730881054	85	W>G		No	ClinGen gnomAD
rs730881054 RCV000159187 CA297298	85	W>R		No	ClinGen ClinVar dbSNP gnomAD
CA1624824 rs770048860	98	K>R		No	ClinGen ExAC gnomAD
rs781600559 CA1624822	101	N>S		No	ClinGen ExAC
CA346373855 rs1188721742	103	L>S		No	ClinGen gnomAD
rs752017140 CA1624820	104	S>C		No	ClinGen ExAC TOPMed gnomAD
rs752017140 CA346373847	104	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1230538285 CA346373845	105	L>I		No	ClinGen TOPMed
CA346373832 rs1235907251	107	V>L		No	ClinGen gnomAD
rs886041923 CA10602855 RCV000265265	108	E>G		No	ClinGen ClinVar Ensembl dbSNP
rs886041923 RCV001311921	108	E>V		No	ClinVar dbSNP
rs1276127499 CA346373813	110	I>V		No	ClinGen TOPMed
CA346373803 rs1572860651	111	H>R		No	ClinGen Ensembl
rs747505741 CA1624802	116	E>Q		No	ClinGen ExAC
rs780406547 CA1624801	117	V>L		No	ClinGen ExAC gnomAD
rs748805040 CA1624800	118	L>V		No	ClinGen ExAC gnomAD
CA346373738 rs777484168	119	G>A		No	ClinGen ExAC gnomAD
CA1624799 rs777484168	119	G>D		No	ClinGen ExAC gnomAD
CA346373699 rs1266876999	124	H>Q		No	ClinGen gnomAD
rs1400246247 CA346373692	125	Q>H		No	ClinGen gnomAD
CA136158 RCV000038558 rs397517170	125	Q>K		No	ClinGen ClinVar Ensembl dbSNP
CA346373690 rs755770649	126	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1624797 rs752402979	128	V>I		No	ClinGen ExAC TOPMed gnomAD
CA346373662 rs1558492439	130	I>T		No	ClinGen Ensembl
rs754751004 CA1624795	131	V>A		No	ClinGen ExAC gnomAD
CA346373623 rs1437526499	136	Y>C		No	ClinGen gnomAD
rs1249736646 CA346373619	137	I>L		No	ClinGen gnomAD
CA346373564 rs1263221891	145	V>I		No	ClinGen TOPMed gnomAD
rs1223107725 CA346373549	147	N>S		No	ClinGen gnomAD
rs761951846 CA1624790	153	R>Q		No	ClinGen ExAC gnomAD
rs952307464 CA46013545	153	R>W		No	ClinGen TOPMed gnomAD
CA346373494 rs1188280924	155	Y>C		No	ClinGen TOPMed
rs1238452977 CA346373474	158	T>A		No	ClinGen gnomAD
CA1624789 rs776744951	158	T>I		No	ClinGen ExAC gnomAD
rs1482721707 CA346373442	162	I>T		No	ClinGen TOPMed gnomAD
CA346373422 rs1558492346 RCV000680638	165	A>G		No	ClinGen ClinVar Ensembl dbSNP
CA346373419 rs1389080394	166	M>V		No	ClinGen TOPMed gnomAD
CA1624788 rs768975865	167	C>Y		No	ClinGen ExAC gnomAD
CA297247 rs730881037	170	K>T		No	ClinGen Ensembl
rs201068374 CA1624765	181	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346373289 rs1553362279 RCV000521975	182	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA1624763 rs772569423	183	I>T		No	ClinGen ExAC gnomAD
rs771614273 CA1624762	185	I>M		No	ClinGen ExAC TOPMed
CA346373263 rs1310407153	185	I>R		No	ClinGen gnomAD
rs967765514 CA46013333	188	L>S		No	ClinGen TOPMed gnomAD
rs55980502 CA46013332	190	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10602366 rs886041241	191	E>K		No	ClinGen gnomAD
CA46013331 rs868290810	193	P>A		No	ClinGen Ensembl
rs1174182802 CA346373212	193	P>L		No	ClinGen gnomAD
rs1202550799 CA346373202	195	T>I		No	ClinGen gnomAD
CA46013329 rs966194796	196	S>A		No	ClinGen Ensembl
CA346373192 rs1262897249	197	G>A		No	ClinGen gnomAD
CA1624758 rs397517175	199	Q>H		No	ClinGen ExAC gnomAD
CA1624757 rs143007609	200	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558491151 CA346373166	201	Y>C		No	ClinGen Ensembl
rs1341328808 CA346373137	205	V>L		No	ClinGen gnomAD
rs759310872 CA46013328	207	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759310872 CA1624755	207	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346373121 rs1262404980	207	A>V		No	ClinGen TOPMed
rs1397573530 CA346373083	212	I>M		No	ClinGen gnomAD
RCV000586137 rs374761537 CA1624754	213	R>Q		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA10602857 RCV000404559 rs886041696	214	Q>H		No	ClinGen ClinVar Ensembl dbSNP
CA1624752 rs752994841	216	I>L		No	ClinGen ExAC
rs1007628403 CA346373030	221	L>I		No	ClinGen TOPMed gnomAD
CA346373029 rs1007628403	221	L>V		No	ClinGen TOPMed gnomAD
rs1553362230 CA346373014 RCV000520677	223	I>M		No	ClinGen ClinVar Ensembl dbSNP
CA1624750 rs759955925	223	I>V		No	ClinGen ExAC gnomAD
CA1624747 rs775942839	231	V>A		No	ClinGen ExAC gnomAD
rs1414554842 CA346372956	232	S>C		No	ClinGen TOPMed
CA1624746 rs746598933	239	A>T		No	ClinGen ExAC TOPMed gnomAD
rs779699814 CA346372901	240	N>K		No	ClinGen ExAC gnomAD
rs1240620836 CA346367855	242	V>L		No	ClinGen gnomAD
CA1624729 rs763459953	245	I>V		No	ClinGen ExAC gnomAD
rs760204614 CA1624728	246	F>Y		No	ClinGen ExAC gnomAD
CA1624727 rs775052125	248	R>H		No	ClinGen ExAC TOPMed gnomAD
CA346367809 rs775052125	248	R>L		No	ClinGen ExAC TOPMed gnomAD
CA346367788 rs1158811958	252	I>L		No	ClinGen gnomAD
rs886041934 RCV000279899 CA10602874	253	H>Y		No	ClinGen ClinVar Ensembl dbSNP
CA1624724 rs770792180	258	K>M		No	ClinGen ExAC gnomAD
rs1307150340 CA346367726	261	G>R		No	ClinGen TOPMed
CA346367716 rs1393013631	262	H>Q		No	ClinGen TOPMed
rs749132484 CA1624723	262	H>R		No	ClinGen ExAC gnomAD
rs748234666 CA1624720	267	V>A		No	ClinGen ExAC TOPMed gnomAD
RCV000788581 rs1572855071	269	M>missing		No	ClinVar dbSNP
rs188055807 CA1624718	279	V>I		No	ClinGen 1000Genomes ExAC
CA136186 rs397517178 RCV000038573	281	S>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs762496831 CA45695689	281	S>T		No	ClinGen Ensembl
rs1281947981 CA346367587	282	C>Y		No	ClinGen gnomAD
rs1484250031 CA346367575	283	F>L		No	ClinGen TOPMed
rs769009063 CA45683654	290	L>M		No	ClinGen Ensembl
rs867112037 CA45683649	292	F>S		No	ClinGen Ensembl
CA346367469 rs1335105269	296	E>D		No	ClinGen gnomAD
rs757720349 CA1624691	300	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766965165 CA45683608	304	R>*		No	ClinGen ExAC gnomAD
CA346367422 rs886254041	304	R>L		No	ClinGen TOPMed gnomAD
rs886254041 CA45683594	304	R>P		No	ClinGen TOPMed gnomAD
CA45683607 rs886254041	304	R>Q		No	ClinGen TOPMed gnomAD
rs1558480639 CA346367402	307	F>L		No	ClinGen Ensembl
rs867539471 CA45683587	310	R>C		No	ClinGen TOPMed gnomAD
CA346367372 rs1437202996	312	L>F		No	ClinGen TOPMed
CA1624688 rs139274919	312	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1572841414 RCV000788410 CA346367366	313	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs766049717 CA1624687	314	Q>H		No	ClinGen ExAC gnomAD
CA1624686 rs762569805	316	S>T		No	ClinGen ExAC gnomAD
CA346367316 RCV000681134 rs1558480612	321	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs148749327 CA45683545	321	A>V		No	ClinGen ESP gnomAD
CA346367257 rs1215944824	328	G>S		No	ClinGen TOPMed
CA45683459 rs943205161	331	F>I		No	ClinGen Ensembl
CA1624666 rs751065321	333	E>D		No	ClinGen ExAC gnomAD
rs762599512 CA45683443	334	A>D		No	ClinGen ExAC gnomAD
CA1624665 rs765820430	334	A>T		No	ClinGen ExAC gnomAD
rs762599512 CA1624664	334	A>V		No	ClinGen ExAC gnomAD
CA346367209 rs1558480546	335	V>A		No	ClinGen Ensembl
rs1367541617 CA346367177	340	P>H		No	ClinGen TOPMed
CA45683382 rs1043516636	349	H>Q		No	ClinGen TOPMed gnomAD
CA1624654 rs771185305	351	L>F		No	ClinGen ExAC TOPMed gnomAD
CA346367110 rs771185305	351	L>V		No	ClinGen ExAC TOPMed gnomAD
rs78032694 CA45683357	352	H>D		No	ClinGen Ensembl
RCV000681172 CA346367075 rs1558480495	356	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs1489141486 CA346367068	357	L>V		No	ClinGen TOPMed gnomAD
rs1394427827 CA346367061	358	K>E		No	ClinGen TOPMed
rs1319230923 CA346367025	361	E>Q		No	ClinGen gnomAD
CA346366905 rs1347684399	376	A>G		No	ClinGen TOPMed
rs1313184916 CA346366863	383	V>L		No	ClinGen gnomAD
rs1380491347 CA346366805	390	I>M		No	ClinGen gnomAD
CA1624634 rs749523988	392	S>C		No	ClinGen ExAC gnomAD
rs1006743795 CA45675666	393	K>R		No	ClinGen Ensembl
rs1005855156 CA45675081	405	C>Y		No	ClinGen Ensembl
CA346366683 rs1159603423	407	F>Y		No	ClinGen TOPMed gnomAD
CA346366649 rs1362525333	411	Q>L		No	ClinGen gnomAD
CA346366611 rs1450272995	416	Q>P		No	ClinGen TOPMed
CA346366603 rs1181175917	417	L>P		No	ClinGen gnomAD
CA346366601 rs1361403262	418	A>P		No	ClinGen TOPMed
CA1624612 rs769027463	421	K>M		No	ClinGen ExAC gnomAD
rs1212129369 CA346366568	422	M>I		No	ClinGen gnomAD
CA1624611 rs747558911	423	N>D		No	ClinGen ExAC gnomAD
rs730881042 RCV000159160 CA297261	424	E>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346366546 RCV000680953 rs1558474706	426	Q>K		No	ClinGen ClinVar Ensembl dbSNP
CA1624609 rs755862687	429	I>T		No	ClinGen ExAC gnomAD
CA346366508 rs1223347034	431	G>S		No	ClinGen TOPMed
rs752423932 CA1624608	431	G>V		No	ClinGen ExAC gnomAD
rs1264285931 CA346366483	434	G>E		No	ClinGen TOPMed
rs397517148 CA346366484	434	G>R	Noonan syndrome 4 (ns4) [Ensembl]	No	ClinGen Ensembl
CA45674947 rs138920742	435	K>E		No	ClinGen ESP TOPMed
rs1402768479 CA346366472	436	D>H		No	ClinGen gnomAD
rs397517150 RCV000159165 CA297264	437	I>S		No	ClinGen ClinVar Ensembl dbSNP
CA16042458 rs1057517861 RCV000414005	439	Q>P		No	ClinGen ClinVar TOPMed dbSNP
rs1057517861 CA346366451	439	Q>R		No	ClinGen TOPMed
CA346366444 rs1274358093	440	C>F		No	ClinGen TOPMed gnomAD
rs751528749 CA1624605	446	M>I		No	ClinGen ExAC TOPMed gnomAD
RCV001174752 rs1669848769	449	T>KIQKNIDGWEGKDIGQCCNEFIMEG		No	ClinVar dbSNP
rs1299224105 CA346366376	449	T>N		No	ClinGen gnomAD
RCV001174979 rs1669848601	450	L>SNQEDERDSEEY*		No	ClinVar dbSNP
rs730880218 CA45674836	451	T>I		No	ClinGen ExAC TOPMed gnomAD
CA346366362 rs1158553537	452	R>C		No	ClinGen gnomAD
RCV000353861 rs886042040 CA10602848	458	E>D		No	ClinGen ClinVar Ensembl dbSNP
rs1175506046 CA346366302	461	I>V		No	ClinGen TOPMed
CA297267 rs730881043	462	F>Y		No	ClinGen TOPMed gnomAD
CA1624601 rs762150157	463	L>V		No	ClinGen ExAC gnomAD
RCV000595629 rs397517151 CA346366228	471	C>Y		No	ClinGen ClinVar dbSNP gnomAD
CA1624600 rs776796335	474	N>S		No	ClinGen ExAC TOPMed gnomAD
CA346366197 rs1572830542	475	H>Q		No	ClinGen Ensembl
rs994150707 CA45674791	475	H>R		No	ClinGen Ensembl
rs1448577878 CA346366192	476	G>A		No	ClinGen gnomAD
CA136080 rs397517152 RCV000038518	477	Q>K		No	ClinGen ClinVar Ensembl dbSNP
CA1624599 rs769098661	478	P>A		No	ClinGen ExAC gnomAD
RCV000612204 CA346366180 rs1553356111 VAR_066043	478	P>L	found in patients with Noonan syndrome [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
rs730880383 RCV000157695 CA235355	481	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA235358 RCV000157696 rs730880384	484	S>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs140671910 RCV000780746 CA45674752	485	N>S		No	ClinGen ClinVar ESP TOPMed dbSNP
CA45674727 rs373737492	486	A>G		No	ClinGen ESP TOPMed
rs1572830508 CA346366135	486	A>T		No	ClinGen Ensembl
rs1057517897 CA16042487 RCV000414536	487	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs994463655 CA45674720	489	R>H		No	ClinGen TOPMed
rs1347617225 CA346366092	492	E>G		No	ClinGen TOPMed
rs560485707 CA45674718	494	F>L		No	ClinGen 1000Genomes
CA1624593 rs747840148	499	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1315811250 CA346366043	499	V>L		No	ClinGen TOPMed
CA346366016 rs1264856949	503	D>H		No	ClinGen TOPMed
rs1470603059 CA346366011	503	D>V		No	ClinGen gnomAD
rs1408893602 CA346365982	507	T>P		No	ClinGen gnomAD
rs754823642 CA1624591	508	N>H		No	ClinGen ExAC gnomAD
CA1624590 rs751404198	508	N>S		No	ClinGen ExAC gnomAD
CA346365967 rs1572830420	509	E>V		No	ClinGen Ensembl
CA1624589 rs201404055	510	Y>N		No	ClinGen ExAC gnomAD
CA1624588 RCV000788580 rs758393921	511	K>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs781159925 CA45674662	512	H>L		No	ClinGen gnomAD
rs781159925 CA346365947	512	H>R		No	ClinGen gnomAD
rs368049212 CA45674659	513	A>S		No	ClinGen ESP
rs561772850 CA1624587	514	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs946850660 CA45674634	515	E>K		No	ClinGen Ensembl
CA45674630 rs1006899351	519	K>E		No	ClinGen TOPMed
CA346365893 rs1201240700	520	D>G		No	ClinGen gnomAD
CA1624584 rs754115060	520	D>N		No	ClinGen ExAC TOPMed gnomAD
CA346365892 RCV000788277 rs1201240700	520	D>V		No	ClinGen ClinVar dbSNP gnomAD
RCV000681429 rs754115060 CA346365895	520	D>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1624583 rs764275648	521	E>K		No	ClinGen ExAC gnomAD
CA346365871 rs1156669922	523	S>N		No	ClinGen TOPMed
CA1624580 rs772693927	523	S>R		No	ClinGen ExAC TOPMed
rs146722878 CA346365858	525	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359371990 CA346365861	525	I>V		No	ClinGen gnomAD
rs1160582057 CA346365847	527	S>P		No	ClinGen TOPMed
rs780038520 CA45674592	533	E>K		No	ClinGen gnomAD
rs772531990 CA1624578	535	N>I		No	ClinGen ExAC gnomAD
CA346365790 rs772531990	535	N>T		No	ClinGen ExAC gnomAD
CA346365763 rs1333124172	538	M>I		No	ClinGen TOPMed
CA346365766 rs1304003551	538	M>T		No	ClinGen TOPMed
rs768230059 CA1624574	542	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779879442 CA1624572	545	Q>R		No	ClinGen ExAC gnomAD
CA1624570 rs149775695	547	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000159171 rs730881045 CA297272	548	S>R		No	ClinGen ClinVar Ensembl dbSNP
CA346365691 rs397517153	550	L>R		No	ClinGen gnomAD
rs1558474300 CA346365678	553	M>T		No	ClinGen Ensembl
rs757341897 CA1624569	554	L>F		No	ClinGen ExAC gnomAD
CA1624568 rs753909912	556	V>L		No	ClinGen ExAC TOPMed gnomAD
CA346365660 rs753909912	556	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1427526552 CA346365656	557	T>P		No	ClinGen TOPMed gnomAD
rs1245953394 CA346365652	557	T>R		No	ClinGen gnomAD
CA1624566 rs753055115	558	M>I		No	ClinGen ExAC TOPMed gnomAD
rs201624023 CA45674496	558	M>T		No	ClinGen 1000Genomes TOPMed
CA1624567 rs371295853	558	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1624564 rs181132805	561	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA45674453 rs199778219	562	E>D		No	ClinGen 1000Genomes TOPMed
rs199778219 CA346365618	562	E>D		No	ClinGen 1000Genomes TOPMed
rs774944155 CA1624563	563	K>R		No	ClinGen ExAC gnomAD
rs571743548 CA346365606	564	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1624561 rs571743548	564	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386900583 CA346365610	564	E>K		No	ClinGen gnomAD
rs1423209129 CA346365603	565	E>K		No	ClinGen gnomAD
CA346365589 rs1313575751	566	Q>H		No	ClinGen TOPMed
rs1408544158 CA346365583	567	M>T		No	ClinGen gnomAD
rs1553356023 CA346365522 RCV000596268	576	R>I		No	ClinGen ClinVar Ensembl dbSNP
rs1290072717 CA346365511	578	A>T		No	ClinGen gnomAD
rs1290081081 CA346365505	579	E>K		No	ClinGen Ensembl
rs993185059 CA45674405	582	S>T		No	ClinGen Ensembl
rs1477519893 CA346365472	583	E>D		No	ClinGen gnomAD
rs780325631 CA45674404	584	E>G		No	ClinGen gnomAD
CA1624557 rs771878514	584	E>K		No	ClinGen ExAC TOPMed
rs973357107 CA45674400	585	N>S		No	ClinGen TOPMed gnomAD
RCV000520823 rs1553356018 CA346365446	587	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA346365450 rs1458063607	587	I>V		No	ClinGen TOPMed
rs745702386 CA1624556	588	F>L		No	ClinGen ExAC gnomAD
rs553331572 CA346365422	590	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA297275 rs730881047	590	E>Q		No	ClinGen TOPMed gnomAD
rs113304514 CA45674385	592	M>T		No	ClinGen Ensembl
CA346365406 rs1558474180	593	Q>K		No	ClinGen Ensembl
rs1184345251 CA346365391	595	K>E		No	ClinGen TOPMed
rs543119480 CA45674380	595	K>N		No	ClinGen Ensembl
rs749375187 CA1624553	596	A>D		No	ClinGen ExAC TOPMed gnomAD
rs749375187 CA346365382	596	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1624552 rs777730053	598	I>T		No	ClinGen ExAC gnomAD
CA346365368 rs1474528754	599	P>T		No	ClinGen TOPMed
rs767942997 CA1624550	600	I>M		No	ClinGen ExAC TOPMed gnomAD
rs373139450 CA1624551	600	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000681051 CA346365354 rs1558474155	601	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA1624548 rs755371745	605	T>N		No	ClinGen ExAC gnomAD
CA1624546 RCV000589437 rs758699499	607	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs889271059 CA45674330	609	L>F		No	ClinGen Ensembl
CA1624545 rs763425122	610	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771755730 CA1624540	617	M>I		No	ClinGen ExAC gnomAD
CA346365212 rs1558470350	620	D>E		No	ClinGen Ensembl
RCV000414295 rs1057517918 CA16042483	620	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs1282835492 CA346365205	621	P>L		No	ClinGen TOPMed
rs145443784 CA1624520	622	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168794388 CA346365191	623	F>L		No	ClinGen gnomAD
rs1057518197 CA16042393 RCV000412837	627	F>C		No	ClinGen ClinVar Ensembl dbSNP
rs770664679 CA1624519	631	Y>F		No	ClinGen ExAC gnomAD
CA45662556 rs1014792433	636	K>E		No	ClinGen Ensembl
CA346365096 rs1186009767	638	Q>P		No	ClinGen gnomAD
CA346365069 rs1255590207	642	S>N		No	ClinGen gnomAD
CA346365058 rs1196416900	644	I>V		No	ClinGen gnomAD
CA346365048 rs1356040248	645	I>R		No	ClinGen gnomAD
CA346365049 rs1356040248	645	I>T		No	ClinGen gnomAD
rs773205186 CA1624498	651	P>L		No	ClinGen ExAC gnomAD
rs1180625027 CA346364994	651	P>S		No	ClinGen TOPMed gnomAD
CA346364990 rs1408868952 RCV001251411	652	E>Q		No	ClinGen ClinVar dbSNP gnomAD
rs56219475 CA136088 VAR_030437	655	P>L	Noonan syndrome 4 (ns4) [Ensembl]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA346364963 rs1198308466	656	T>A		No	ClinGen TOPMed
CA346364959 rs1390446172	656	T>I		No	ClinGen gnomAD
rs1159717692 CA346364945	658	A>V		No	ClinGen gnomAD
CA346364939 RCV000519258 rs1362181978	659	D>E		No	ClinGen ClinVar dbSNP gnomAD
CA1624497 rs768647478	659	D>N		No	ClinGen ExAC gnomAD
CA346364934 rs1258974608	660	R>H		No	ClinGen TOPMed
rs747203627 CA1624496	661	I>M		No	ClinGen ExAC TOPMed gnomAD
CA346364931 rs1181488319	661	I>V		No	ClinGen gnomAD
rs1048869073 CA346364916	663	I>K		No	ClinGen TOPMed gnomAD
CA346364919 rs730881024	663	I>L		No	ClinGen gnomAD
CA1624495 rs587781172	663	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1048869073 CA45661900	663	I>T		No	ClinGen TOPMed gnomAD
RCV000159116 CA297190 rs730881024	663	I>V		No	ClinGen ClinVar dbSNP gnomAD
rs138555160 CA45661885	664	E>Q		No	ClinGen ESP TOPMed gnomAD
CA1624494 rs779262456	665	N>K		No	ClinGen ExAC TOPMed gnomAD
CA346364889 rs1369733808	667	D>E		No	ClinGen TOPMed
CA1624492 rs757698688	667	D>N		No	ClinGen ExAC gnomAD
CA346364894 rs757698688	667	D>Y		No	ClinGen ExAC gnomAD
rs1227177181 CA346364884	668	Q>R		No	ClinGen gnomAD
CA45661870 rs931355622	669	P>S		No	ClinGen Ensembl
CA346364873 rs1284864769	670	L>W		No	ClinGen gnomAD
CA45661843 rs898592513	675	K>R		No	ClinGen Ensembl
CA346364789 rs1402974688	682	I>V		No	ClinGen gnomAD
rs397517155 CA136091 RCV000038528	684	P>L		No	ClinGen ClinVar dbSNP gnomAD
rs751118433 CA1624488	686	Q>L		No	ClinGen ExAC gnomAD
rs751118433 CA346364759	686	Q>R		No	ClinGen ExAC gnomAD
rs758056885 CA1624465	690	L>F		No	ClinGen ExAC gnomAD
rs966388444 CA346364676	697	V>I		No	ClinGen TOPMed gnomAD
CA236034 rs757094189 RCV000171288	702	Y>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA235361 RCV000157697 rs730880385	705	E>K		No	ClinGen ClinVar Ensembl dbSNP
VAR_066053 CA136094 rs140811086	708	A>T	Noonan syndrome 4 (ns4) Joubert syndrome 3 (jbts3) [Ensembl]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1215947792 CA346364590	709	Y>H		No	ClinGen gnomAD
rs900337258 CA45661516	710	L>V		No	ClinGen TOPMed
CA45661510 rs375759761	711	L>S		No	ClinGen ESP
rs371894968 CA45661505	712	Q>K		No	ClinGen ESP
rs767671260 CA1624460	714	M>V		No	ClinGen ExAC gnomAD
rs1040115639 CA45661494	718	I>T		No	ClinGen TOPMed
rs200794965 CA297202	719	G>A		No	ClinGen ExAC TOPMed gnomAD
rs771185398 CA1624458	721	V>I		No	ClinGen ExAC TOPMed gnomAD
rs771185398 CA346364512	721	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV001192936 rs1669496540	727	K>R		No	ClinVar dbSNP
RCV000780755 CA346364436 rs1558469016	730	V>F		No	ClinGen ClinVar Ensembl dbSNP
rs1162676680 CA346364431	731	E>K		No	ClinGen gnomAD
rs574088829 CA1624442	733	I>L	Noonan syndrome 3 (ns3) [Ensembl]	No	ClinGen 1000Genomes ExAC gnomAD
RCV000151923 rs727503437 CA178024	734	T>P		No	ClinGen ClinVar Ensembl dbSNP
rs1457312009 CA346364409	734	T>S		No	ClinGen TOPMed
CA346364396 rs1553354396	736	I>R		No	ClinGen Ensembl
CA1624441 rs752706487	736	I>V		No	ClinGen ExAC gnomAD
rs1177817358 CA346364380	738	Q>H		No	ClinGen TOPMed
rs1422160829 CA346364350	742	I>M		No	ClinGen TOPMed
CA1624440 rs767494615	742	I>T		No	ClinGen ExAC TOPMed gnomAD
RCV000328656 rs759584440 CA1624439	743	A>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1250543199 CA346364336	745	D>N		No	ClinGen gnomAD
rs975491573 CA45660552 RCV000681317	746	N>S		No	ClinGen ClinVar Ensembl dbSNP
rs1264018180 CA346364319	747	G>A		No	ClinGen gnomAD
rs766572354 CA1624438	747	G>R		No	ClinGen ExAC gnomAD
rs1317993786 CA346364292	751	N>I		No	ClinGen gnomAD
RCV000523565 rs1553354376 CA346364290	751	N>K		No	ClinGen ClinVar Ensembl dbSNP
CA346364294 rs1317993786	751	N>S		No	ClinGen gnomAD
CA346364295 rs1558468956	751	N>Y		No	ClinGen Ensembl
rs1226577240 CA346364283	752	I>M		No	ClinGen gnomAD
CA346364284 rs1286463703	752	I>T		No	ClinGen gnomAD
CA45660512 rs1032978868	753	T>I		No	ClinGen Ensembl
CA346364275 rs1463290793	754	F>L		No	ClinGen TOPMed
rs1350115335 CA346364266	755	Q>P		No	ClinGen gnomAD
rs1169062075 CA346364259	756	S>C		No	ClinGen TOPMed
CA346364248 rs1400210399	757	S>L		No	ClinGen TOPMed
rs730881027 CA297207 RCV000159128	760	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA346364226 rs770225695	761	V>A		No	ClinGen ExAC gnomAD
CA1624435 rs770225695	761	V>G		No	ClinGen ExAC gnomAD
rs1160762647 CA346364157	771	I>L		No	ClinGen TOPMed gnomAD
rs557328600 CA1624433	771	I>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160762647 CA346364158	771	I>V		No	ClinGen TOPMed gnomAD
CA1624431 rs745360437	772	E>G		No	ClinGen ExAC gnomAD
CA45660486 rs866596031	774	F>L		No	ClinGen Ensembl
CA346364082 rs1572821215	782	I>M		No	ClinGen Ensembl
RCV000788491 CA346364083 rs1572821224	782	I>R		No	ClinGen ClinVar Ensembl dbSNP
rs1335137808 VAR_066054 CA346364069	784	I>T	a patient with Noonan syndrome [UniProt]	No	ClinGen UniProt TOPMed dbSNP
RCV001175001 rs1669491885	786	R>EFTSHS*		No	ClinVar dbSNP
rs139859866 CA45660463	790	L>S		No	ClinGen ESP TOPMed gnomAD
CA346364005 rs1317203797	794	D>E		No	ClinGen TOPMed
CA1624428 rs777387313	794	D>Y		No	ClinGen ExAC gnomAD
CA346363944 rs1175809874	802	S>P		No	ClinGen gnomAD
CA1624414 rs773960091	812	E>D		No	ClinGen ExAC gnomAD
CA346363794 rs1558467976	823	K>T		No	ClinGen Ensembl
RCV000159132 CA297216 rs730881029	830	N>K		No	ClinGen ClinVar Ensembl dbSNP
rs747801798 CA1624388	838	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1341382516 CA346363666	839	I>V		No	ClinGen gnomAD
CA346363647 rs1246892881	841	E>D		No	ClinGen gnomAD
rs768457896 CA1624386	844	N>H		No	ClinGen ExAC gnomAD
rs957752399 CA45656398	849	V>I		No	ClinGen TOPMed gnomAD
rs1306577224 CA346363584	851	V>L		No	ClinGen gnomAD
CA346363577 rs1429582356	852	V>L		No	ClinGen gnomAD
CA1624383 rs771968591	854	R>Q		No	ClinGen ExAC gnomAD
rs778865680 CA1624381	856	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1624380 rs757460662	857	E>D		No	ClinGen ExAC gnomAD
CA346363538 rs1221615450	858	I>T		No	ClinGen TOPMed
CA346363541 rs1182574388	858	I>V		No	ClinGen gnomAD
CA1624379 rs141501083	863	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346363494 rs1482643958	864	E>D		No	ClinGen TOPMed gnomAD
CA1624378 rs778194173	864	E>Q		No	ClinGen ExAC gnomAD
rs730881030 RCV000590000 CA297219	869	N>S		No	ClinGen ClinVar TOPMed dbSNP
rs1354107467 CA346363448	871	V>I		No	ClinGen gnomAD
rs1553353462 RCV000591885	873	E>missing		No	ClinVar dbSNP
CA1624373 rs749878971	875	V>I		No	ClinGen ExAC gnomAD
CA346363367 rs1346595326	883	V>I		No	ClinGen gnomAD
CA1624371 rs761401536	888	H>Y		No	ClinGen ExAC gnomAD
rs768337141 CA1624369	890	F>L		No	ClinGen ExAC gnomAD
rs760457239 CA1624368	891	E>G		No	ClinGen ExAC gnomAD
CA346363269 rs1164976822	895	S>N		No	ClinGen TOPMed
rs1458299436 CA346363272	895	S>R		No	ClinGen TOPMed
rs886375863 CA45655683	906	E>V		No	ClinGen Ensembl
rs770071107 CA1624339	909	E>G		No	ClinGen ExAC gnomAD
rs755271549 CA1624336	913	K>R		No	ClinGen ExAC gnomAD
CA346363077 RCV000598389 rs1553353332	921	S>C		No	ClinGen ClinVar Ensembl dbSNP
rs780420674 CA1624335	922	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1363593816 CA346363056	924	P>L		No	ClinGen gnomAD
CA346363041 rs1296970890	927	V>M		No	ClinGen gnomAD
RCV000781877 rs1558465734 CA346363019	930	F>I		No	ClinGen ClinVar Ensembl dbSNP
rs748306758 CA1624316	933	Y>C		No	ClinGen ExAC gnomAD
CA1624315 rs776683613	936	N>S		No	ClinGen ExAC gnomAD
rs1351272513 CA346362745	938	L>S		No	ClinGen gnomAD
rs566328117 CA1624314	938	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA346362728 rs1308429073	939	K>*		No	ClinGen gnomAD
rs868472772 CA45647695	944	N>K		No	ClinGen Ensembl
rs747320483 CA346361827	951	H>Q		No	ClinGen ExAC gnomAD
CA346361807 rs1169700752	954	E>D		No	ClinGen gnomAD
rs780409557 CA1624312	954	E>K		No	ClinGen ExAC gnomAD
RCV001175000 rs1668926020	955	L>missing		No	ClinVar dbSNP
rs1572806755 CA346361783	958	F>L		No	ClinGen Ensembl
CA1624310 rs746396499	959	S>G		No	ClinGen ExAC gnomAD
CA346361749 rs1472263395	962	R>K		No	ClinGen gnomAD
rs779447717 CA1624309	962	R>S		No	ClinGen ExAC
CA1624308 rs755549795	963	K>R		No	ClinGen ExAC
CA45647645 rs549952317	965	A>V		No	ClinGen Ensembl
CA184832 RCV000156440 rs727505016	973	Q>L		No	ClinGen ClinVar Ensembl dbSNP
CA346361654 rs1482528274	976	N>Y		No	ClinGen Ensembl
rs912502334 CA45647601	983	V>I		No	ClinGen Ensembl
rs1558460767 CA346361600	984	E>Q		No	ClinGen Ensembl
CA1624305 rs754676663	985	S>A		No	ClinGen ExAC TOPMed gnomAD
CA346361588 rs1204444296	986	D>N		No	ClinGen TOPMed
rs751249845 CA1624304	988	K>R		No	ClinGen ExAC gnomAD
rs202043599 CA1624285	989	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751274973 CA1624284	991	F>L		No	ClinGen ExAC gnomAD
rs1558460622 CA346361533	992	E>K		No	ClinGen Ensembl
rs779896678 CA1624283	993	N>K		No	ClinGen ExAC gnomAD
CA1624282 rs200747626	996	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1321926273 CA346361493	997	M>T		No	ClinGen gnomAD
CA1624281 rs765070830	999	N>S		No	ClinGen ExAC TOPMed gnomAD
CA297222 rs730881031 RCV000159135	1000	S>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs730881031 CA1624280	1000	S>G		No	ClinGen ExAC TOPMed gnomAD
rs891035934 CA45647365	1000	S>N		No	ClinGen TOPMed
CA45647357 rs1051002841	1001	M>V		No	ClinGen TOPMed gnomAD
CA1624279 rs760717289	1003	K>*		No	ClinGen ExAC gnomAD
CA346361452 rs1462821963	1003	K>T		No	ClinGen TOPMed gnomAD
CA346361427 rs1193609722	1006	T>I		No	ClinGen gnomAD
rs1054587390 CA45647329	1014	L>V		No	ClinGen Ensembl
rs772348571 CA1624278	1015	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759883355 CA1624277	1020	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1464623941 CA346361336	1020	N>S		No	ClinGen gnomAD
rs771279973 CA1624275	1021	P>L		No	ClinGen ExAC gnomAD
rs201715720 CA45647285	1023	P>T		No	ClinGen Ensembl
RCV000159136 CA297225 rs730881032	1026	R>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553351362 RCV000658013 CA346361289	1027	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA346361233 rs1483311338	1033	Y>C		No	ClinGen TOPMed
rs1167317994 CA346361227	1034	P>S		No	ClinGen gnomAD
rs1167317994 CA346361229	1034	P>T		No	ClinGen gnomAD
rs757046948 CA1624251	1035	L>I		No	ClinGen ExAC gnomAD
CA45646133 rs1027223518	1041	R>H		No	ClinGen TOPMed
CA346361179 rs1166919012	1042	P>Q		No	ClinGen gnomAD
CA346361152 rs1183152828	1046	R>I		No	ClinGen gnomAD
CA346361142 rs1483281162	1048	G>R		No	ClinGen gnomAD
CA346361125 rs1194032302	1050	M>I		No	ClinGen gnomAD
CA10602858 rs886041814 RCV000397079	1050	M>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1338626165 CA346361119	1051	R>T		No	ClinGen gnomAD
rs778058668 CA45646117	1053	P>L		No	ClinGen Ensembl
rs1246281893 CA346361096	1055	P>T		No	ClinGen gnomAD
rs767619216 CA1624246	1059	E>G		No	ClinGen ExAC gnomAD
rs1042497347 CA45646105	1059	E>Q		No	ClinGen Ensembl
CA1624243 rs766546302	1066	S>G		No	ClinGen ExAC gnomAD
CA10602869 rs886041475 RCV000380919	1066	S>R		No	ClinGen ClinVar Ensembl dbSNP
CA346360861 rs1306515352	1068	I>M		No	ClinGen gnomAD
rs945325175 CA45646080	1071	S>R		No	ClinGen Ensembl
CA1624242 rs142342797	1072	E>A		No	ClinGen ESP ExAC gnomAD
rs1391324757 CA346360771	1073	T>K		No	ClinGen gnomAD
rs773504580 CA1624241	1074	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1624239 rs762412881	1076	T>K		No	ClinGen ExAC gnomAD
CA297228 RCV000159137 rs730881033	1079	A>V		No	ClinGen ClinVar Ensembl dbSNP
rs771728760 CA1624237	1080	P>S		No	ClinGen ExAC gnomAD
CA346360643 RCV000681062 rs992722303	1081	N>S		No	ClinGen ClinVar Ensembl dbSNP
CA45646056 rs992722303	1081	N>T		No	ClinGen Ensembl
CA346360607 rs1413950512	1084	R>G		No	ClinGen gnomAD
CA1624236 rs745411722	1085	T>K		No	ClinGen ExAC gnomAD
rs1332816469 CA346360599	1085	T>S		No	ClinGen TOPMed
RCV001705541 CA16042452 rs1057517892	1086	P>A		No	ClinGen ClinVar Ensembl dbSNP
RCV000159130 rs730881028 RCV001420900 CA297210	1086	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs730881028 CA346360593	1086	P>Q		No	ClinGen ExAC gnomAD
CA346360585 rs1572804497	1088	T>P		No	ClinGen Ensembl
rs749055121 CA1624234	1089	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346360573 rs1271964438	1090	P>A		No	ClinGen gnomAD
CA205476 RCV000192568 rs730881034	1090	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346360574 rs1271964438	1090	P>T		No	ClinGen gnomAD
RCV000414163 rs1057518017	1091	P>missing		No	ClinVar dbSNP
CA346360568 rs756008569	1091	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1624233 rs756008569	1091	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346360569 rs756008569	1091	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1624232 rs373948887	1092	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238854663 CA346360514	1094	G>D		No	ClinGen gnomAD
CA45646017 rs963283940	1094	G>S		No	ClinGen Ensembl
CA1624231 rs755015356	1095	A>D		No	ClinGen ExAC gnomAD
RCV000413425 rs727505379 CA16042416	1097	S>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1624229 rs758560516	1097	S>R		No	ClinGen ExAC TOPMed gnomAD
rs750731426 CA1624228	1099	T>A		No	ClinGen ExAC gnomAD
CA346360392 rs1386657291	1101	V>I		No	ClinGen gnomAD
rs1210824639 CA346360369	1103	S>G		No	ClinGen TOPMed
CA346360344 rs1406906239	1106	D>G		No	ClinGen TOPMed gnomAD
CA45645978 rs964159537	1107	S>A		No	ClinGen TOPMed gnomAD
rs1469499065 CA346360337	1107	S>C		No	ClinGen TOPMed gnomAD
RCV000587413 rs199856844 CA1624225	1108	D>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346360329 rs1452455488	1109	H>Y		No	ClinGen gnomAD
CA1624222 rs572955351	1110	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572955351 RCV000159139 CA297231	1110	S>W		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs999553936 CA45645952	1112	P>A		No	ClinGen TOPMed gnomAD
CA346360308 rs999553936	1112	P>S		No	ClinGen TOPMed gnomAD
rs1365639175 CA346360295	1114	H>D		No	ClinGen TOPMed
rs1281786941 CA346360281	1116	S>G		No	ClinGen gnomAD
CA346359898 rs1276062555	1118	D>Y		No	ClinGen TOPMed gnomAD
rs764640296 CA1624204	1119	T>A		No	ClinGen ExAC gnomAD
rs368767111 CA45642643	1120	V>I		No	ClinGen ESP TOPMed
CA1624202 rs765832489	1122	I>M		No	ClinGen ExAC gnomAD
rs1373636855 CA346359841	1127	P>S		No	ClinGen TOPMed
CA346359834 rs1434181930	1128	H>R		No	ClinGen TOPMed
CA1624201 rs762576997	1128	H>Y		No	ClinGen ExAC gnomAD
rs376917176 CA1624199	1131	R>G		No	ClinGen ESP ExAC gnomAD
rs1162412781 CA346359793	1133	A>P		No	ClinGen gnomAD
CA1624181 rs757838494	1133	A>V		No	ClinGen ExAC gnomAD
rs749989638 CA1624180	1134	S>F		No	ClinGen ExAC gnomAD
rs1486583060 CA346359782	1135	V>I		No	ClinGen TOPMed
CA45641519 rs147996068	1137	S>P		No	ClinGen ESP gnomAD
rs1433351757 CA346359766	1138	I>K		No	ClinGen TOPMed
CA45641507 rs56248239	1138	I>L		No	ClinGen ExAC TOPMed gnomAD
CA297234 rs56248239	1138	I>V		No	ClinGen ExAC TOPMed gnomAD
RCV001174937 rs1668593642	1139	S>G		No	ClinVar dbSNP
rs1201321342 CA346359756	1139	S>R		No	ClinGen TOPMed
CA346359724 rs775259671	1144	T>I		No	ClinGen ExAC gnomAD
CA346359727 rs1232927548	1144	T>P		No	ClinGen gnomAD
CA1624175 rs775259671	1144	T>S		No	ClinGen ExAC gnomAD
rs1572797521 CA346359716	1146	E>K		No	ClinGen Ensembl
CA1624174 rs138966939	1148	P>S		No	ClinGen ESP ExAC gnomAD
rs201539241 CA1624173	1149	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA346359626 rs1558455787	1153	V>L		No	ClinGen Ensembl
CA1624171 rs774579234	1157	R>T		No	ClinGen ExAC gnomAD
rs1396062382 CA346359534	1158	R>*		No	ClinGen gnomAD
rs771240089 CA1624170	1163	P>L		No	ClinGen ExAC
CA346359450 rs1388677294	1163	P>S		No	ClinGen TOPMed
CA1624169 rs749546068	1164	A>T		No	ClinGen ExAC gnomAD
rs1388995840 CA346359428	1164	A>V		No	ClinGen gnomAD
CA45641432 rs200718029	1165	E>Q		No	ClinGen Ensembl
CA1624168 rs778109739	1167	S>L		No	ClinGen ExAC gnomAD
CA1624167 rs756406841	1168	P>A		No	ClinGen ExAC TOPMed gnomAD
rs767291758 CA1624154	1171	I>N		No	ClinGen ExAC gnomAD
rs537874171 CA1624153	1172	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774526240 CA1624152	1174	K>Q		No	ClinGen ExAC gnomAD
RCV000589150 rs730881035 CA297237	1175	H>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1624151 rs771115389	1176	L>M		No	ClinGen ExAC
CA297280 rs730881049 RCV000159181	1177	D>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs773306505 CA346362946 RCV000519026	1178	S>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1624150 rs773306505	1178	S>R		No	ClinGen ExAC gnomAD
rs1050237569 CA45674342	1178	S>T		No	ClinGen TOPMed
rs770107427 CA1624149	1179	P>S		No	ClinGen ExAC
rs1392534339 CA346362924	1181	A>V		No	ClinGen TOPMed
rs1349777222 CA346362902	1185	R>K		No	ClinGen gnomAD
CA346362869 rs1558455193	1189	S>P		No	ClinGen Ensembl
rs1553349579 RCV000597747 CA346362860	1190	K>E		No	ClinGen ClinVar Ensembl dbSNP
CA45674324 rs540243019	1190	K>T		No	ClinGen Ensembl
rs781621330 CA1624147	1194	P>S		No	ClinGen ExAC gnomAD
CA45674310 rs914957553	1195	R>*		No	ClinGen gnomAD
CA1624146 rs368708238	1195	R>L		No	ClinGen ESP ExAC gnomAD
rs112353205 CA1624144	1199	S>P		No	ClinGen ExAC gnomAD
rs753412784 CA1624142	1200	D>A		No	ClinGen ExAC TOPMed gnomAD
CA136143 rs141594736 RCV000038553	1200	D>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs756728233 CA1624143	1200	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1572796492 CA915943761	1200	D>T		No	ClinGen Ensembl
rs1422169849 CA346362758	1201	R>Q		No	ClinGen TOPMed
CA346362744 rs558665788	1203	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145705430 CA1624139	1203	S>C		No	ClinGen ESP ExAC TOPMed
CA1624140 rs558665788	1203	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1624138 rs374497013	1204	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257208031 CA346362725	1205	S>*		No	ClinGen gnomAD
rs1257208031 CA346362723	1205	S>L		No	ClinGen gnomAD
rs766488137 CA1624137	1206	D>E		No	ClinGen ExAC gnomAD
rs730881025 CA45674194	1207	P>L		No	ClinGen Ensembl
CA297193 RCV000159117 rs730881025	1207	P>R		No	ClinGen ClinVar Ensembl dbSNP
CA346362701 rs1486557873	1208	P>S		No	ClinGen gnomAD
CA297283 rs730881050	1215	P>L		No	ClinGen TOPMed
CA1624133 rs762129481	1216	P>A		No	ClinGen ExAC gnomAD
RCV000489742 rs914233131 CA45674182	1217	R>*		No	ClinGen ClinVar TOPMed dbSNP
CA346362584 rs776814547	1220	V>L		No	ClinGen ExAC gnomAD
CA346362583 RCV000586270 rs776814547	1220	V>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs768987761 RCV001264468 CA1624131	1221	R>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1353982573 CA346362563	1223	P>S		No	ClinGen gnomAD
rs747415691 CA1624130	1224	D>G		No	ClinGen ExAC gnomAD
rs1225571110 CA346362544	1226	F>V		No	ClinGen gnomAD
rs1399192088 CA346362534	1227	S>*		No	ClinGen gnomAD
CA1624129 rs780536002	1230	P>S		No	ClinGen ExAC gnomAD
CA346362504 rs1558455030	1232	H>R		No	ClinGen Ensembl
rs777373438 CA1624126	1233	L>F		No	ClinGen ExAC gnomAD
CA346362500 rs777373438	1233	L>V		No	ClinGen ExAC gnomAD
CA346362492 rs1474325673	1234	Q>R		No	ClinGen gnomAD
CA136146 rs397517168	1235	P>S		No	ClinGen TOPMed gnomAD
rs533661246 CA1624125	1236	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371408734 CA1624124	1237	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1624122 rs766366434	1238	L>S		No	ClinGen ExAC gnomAD
rs750433247 CA1624121	1241	K>R		No	ClinGen ExAC gnomAD
rs1229459993 CA346362446	1242	S>T		No	ClinGen gnomAD
rs1305553673 CA346362434	1244	H>D		No	ClinGen gnomAD
CA1624120 rs761850358	1244	H>L		No	ClinGen ExAC gnomAD
CA45674083 rs761850358	1244	H>R		No	ClinGen ExAC gnomAD
rs397517169 RCV000038557 CA136155	1245	G>V		No	ClinGen ClinVar TOPMed dbSNP
rs374110460 CA1624119	1246	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1624118 rs768934399	1247	A>G		No	ClinGen ExAC gnomAD
rs1186966970 CA346362411	1248	F>L		No	ClinGen TOPMed
rs775837423 CA1624116	1249	F>L		No	ClinGen ExAC TOPMed gnomAD
CA346362379 rs1160171016	1252	S>T		No	ClinGen gnomAD
rs772527384 CA1624115	1253	P>L		No	ClinGen ExAC gnomAD
rs1376446157 CA346362361	1255	P>R		No	ClinGen TOPMed
VAR_066059 CA242343 rs553805862 RCV000176407	1257	T>A	a patient with Noonan syndrome [UniProt]	No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs962478091 CA45674045	1257	T>I		No	ClinGen TOPMed
CA45674034 rs140991871	1258	P>R		No	ClinGen ESP TOPMed gnomAD
CA16622168 rs956446097	1258	P>T		No	ClinGen gnomAD
rs1253089461 CA346362327	1261	P>L		No	ClinGen gnomAD
rs1194895614 CA346362309	1264	P>H		No	ClinGen gnomAD
rs730881051 CA1624111	1268	G>C		No	ClinGen ExAC TOPMed gnomAD
CA297286 RCV000159183 rs730881051	1268	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs370528448 CA1624110	1269	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA346362271 rs1310200958	1271	R>G		No	ClinGen TOPMed
CA346362268 rs1267319635	1271	R>T		No	ClinGen gnomAD
rs1372284070 CA346362260	1272	H>R		No	ClinGen gnomAD
rs1438882639 CA346362253	1273	L>R		No	ClinGen gnomAD
rs377102744 CA1624109	1273	L>V		No	ClinGen ESP ExAC gnomAD
CA10602856 rs886041565 RCV000303886	1274	P>R		No	ClinGen ClinVar dbSNP gnomAD
rs1064796575 RCV000478308 CA16617535	1276	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA346362228 rs1274431996	1278	L>*		No	ClinGen TOPMed gnomAD
rs548519280 CA1624105	1280	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374341202 RCV000589019 CA346362171	1286	S>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374341202 CA297199	1286	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs775782359 CA1624102	1287	I>T		No	ClinGen ExAC gnomAD
rs760917490 RCV000616572 CA1624103	1287	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA45673928 rs139676674	1298	T>A		No	ClinGen ESP TOPMed gnomAD
rs139676674 CA346362102	1298	T>P		No	ClinGen ESP TOPMed gnomAD
rs730881055 RCV000159189 CA297304	1299	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs771396497 CA1624098	1301	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1624096 rs776281207	1304	K>Q		No	ClinGen ExAC
CA346362056 rs1347275717	1305	L>V		No	ClinGen gnomAD
rs768386760 CA1624095	1312	R>T		No	ClinGen ExAC
rs779904535 CA1624093	1315	T>R		No	ClinGen ExAC gnomAD
rs1399242305 CA346361977	1316	H>Q		No	ClinGen TOPMed gnomAD
rs371024396 CA1624092	1316	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346361967 rs1375806273	1318	S>C		No	ClinGen gnomAD
RCV000038559 rs397517171 CA136161	1318	S>T		No	ClinGen ClinVar Ensembl dbSNP
CA297241 rs730881036 RCV000159146	1319	M>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs730881036 CA1624090	1319	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1404062370 CA346361955	1320	H>P		No	ClinGen TOPMed
rs1553349464 CA346361952	1320	H>Q		No	ClinGen Ensembl
CA1624089 rs753874333	1321	R>*		No	ClinGen ExAC gnomAD
CA45673806 rs1054147959	1321	R>T		No	ClinGen TOPMed
CA346361945 rs1167931335	1322	D>N		No	ClinGen gnomAD
CA346361926 rs727503434	1324	P>L		No	ClinGen ExAC gnomAD
rs727503434 CA178011 RCV000151916	1324	P>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA346361910 rs1371048349	1326	L>R		No	ClinGen gnomAD
rs1325516428 CA346361914	1326	L>V		No	ClinGen TOPMed
CA346361907 rs1572795863	1327	L>V		No	ClinGen Ensembl
rs1191984233 CA346361903	1327	L>W		No	ClinGen gnomAD
CA1624088 rs756233638	1329	N>D		No	ClinGen ExAC gnomAD
CA346361875 rs1259991779	1330	A>P		No	ClinGen gnomAD
CA45673750 rs889768265	1333	S>P		No	ClinGen Ensembl

2 associated diseases with Q07889

[MIM: 135300]: Fibromatosis, gingival, 1 (GINGF1)

A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. {ECO:0000269|PubMed:11868160}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 610733]: Noonan syndrome 4 (NS4)

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:19438935, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:20673819, ECO:0000269|PubMed:20683980, ECO:0000269|PubMed:21387466}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. {ECO:0000269|PubMed:11868160}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19020799, ECO:0000269|PubMed:19438935, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:20673819, ECO:0000269|PubMed:20683980, ECO:0000269|PubMed:21387466}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q07889

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	200 - 390	IPR000219
domain	Ras-like guanine nucleotide exchange factor, N-terminal	596 - 741	IPR000651
domain	Pleckstrin homology domain	443 - 548	IPR001849
domain	Ras guanine-nucleotide exchange factors catalytic domain	776 - 1020	IPR001895
conserved_site	Ras guanine-nucleotide exchange factor, conserved site	927 - 960	IPR019804

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family	PTHR23113	GUANINE NUCLEOTIDE EXCHANGE FACTOR
PANTHER Subfamily	PTHR23113:SF168	SON OF SEVENLESS HOMOLOG 1
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
PANTHER Pathway Category	PI3 kinase pathway SOS T cell activation SOS Angiogenesis SOS-1 Integrin signalling pathway SOS PDGF signaling pathway SOS B cell activation SOS Ras Pathway SOS Interleukin signaling pathway SOS Inflammation mediated by chemokine and cytokine signaling pathway Sos CCKR signaling map SOS1 Gonadotropin-releasing hormone receptor pathway Sos FGF signaling pathway SOS EGF receptor signaling pathway SOS Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade SOS

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
GTPase complex	A protein complex which is capable of GTPase activity.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

27 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
B cell homeostasis	The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.
blood vessel morphogenesis	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.
cardiac atrium morphogenesis	The process in which the cardiac atrium is generated and organized. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle.
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
eyelid development in camera-type eye	The progression of the eyelid in a camera-type eye from its formation to the mature state. The eyelid is a membranous cover that helps protect and lubricate the eye.
Fc-epsilon receptor signaling pathway	The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.
heart trabecula morphogenesis	The process of shaping a trabecula in the heart. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue.
leukocyte migration	The movement of a leukocyte within or between different tissues and organs of the body.
midbrain morphogenesis	The developmental process by which a midbrain is generated and organized.
multicellular organism growth	The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
neurotrophin TRK receptor signaling pathway	The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
pericardium morphogenesis	The process in which the anatomical structure of the pericardium is generated and organized.
positive regulation of epidermal growth factor receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
positive regulation of small GTPase mediated signal transduction	Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of MAP kinase activity	Any process that modulates the frequency, rate or extent of MAP kinase activity.
regulation of pro-B cell differentiation	Any process that modulates the frequency, rate or extent of pro-B cell differentiation.
regulation of T cell differentiation in thymus	Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus.
regulation of T cell proliferation	Any process that modulates the frequency, rate or extent of T cell proliferation.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.
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.
vitellogenesis	The production of yolk. Yolk is a mixture of materials used for embryonic nutrition.

30 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6N9I4	RASGRP2	RAS guanyl-releasing protein 2	Bos taurus (Bovine)	SS
Q1LZ97	RASGRP4	RAS guanyl-releasing protein 4	Bos taurus (Bovine)	SS
A0A3S5ZPR1	RASGRP3	RAS guanyl releasing protein 3	Gallus gallus (Chicken)	SS
P26675	Sos	Protein son of sevenless	Drosophila melanogaster (Fruit fly)	SS
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
A2AR50	Ralgps1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Mus musculus (Mouse)	PR
Q8BTM9	Rasgrp4	RAS guanyl-releasing protein 4	Mus musculus (Mouse)	SS
Q9Z1S3	Rasgrp1	RAS guanyl-releasing protein 1	Mus musculus (Mouse)	SS
Q9QUG9	Rasgrp2	RAS guanyl-releasing protein 2	Mus musculus (Mouse)	SS
Q9ERD6	Ralgps2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Mus musculus (Mouse)	PR
Q02384	Sos2	Son of sevenless homolog 2	Mus musculus (Mouse)	SS
Q62245	Sos1	Son of sevenless homolog 1	Mus musculus (Mouse)	SS
Q9R1K8	Rasgrp1	RAS guanyl-releasing protein 1	Rattus norvegicus (Rat)	SS
P0C643	Rasgrp2	RAS guanyl-releasing protein 2	Rattus norvegicus (Rat)	SS
Q8R5I4	Rasgrp4	RAS guanyl-releasing protein 4	Rattus norvegicus (Rat)	SS
Q9N5D3	sos-1	Son of sevenless homolog	Caenorhabditis elegans	EV
A4IJ06	rasgrp1	RAS guanyl-releasing protein 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MQAQQLPYEF	FSEENAPKWR	GLLVPALKKV	QGQVHPTLES	NDDALQYVEE	LILQLLNMLC
70	80	90	100	110	120
QAQPRSASDV	EERVQKSFPH	PIDKWAIADA	QSAIEKRKRR	NPLSLPVEKI	HPLLKEVLGY
130	140	150	160	170	180
KIDHQVSVYI	VAVLEYISAD	ILKLVGNYVR	NIRHYEITKQ	DIKVAMCADK	VLMDMFHQDV
190	200	210	220	230	240
EDINILSLTD	EEPSTSGEQT	YYDLVKAFMA	EIRQYIRELN	LIIKVFREPF	VSNSKLFSAN
250	260	270	280	290	300
DVENIFSRIV	DIHELSVKLL	GHIEDTVEMT	DEGSPHPLVG	SCFEDLAEEL	AFDPYESYAR
310	320	330	340	350	360
DILRPGFHDR	FLSQLSKPGA	ALYLQSIGEG	FKEAVQYVLP	RLLLAPVYHC	LHYFELLKQL
370	380	390	400	410	420
EEKSEDQEDK	ECLKQAITAL	LNVQSGMEKI	CSKSLAKRRL	SESACRFYSQ	QMKGKQLAIK
430	440	450	460	470	480
KMNEIQKNID	GWEGKDIGQC	CNEFIMEGTL	TRVGAKHERH	IFLFDGLMIC	CKSNHGQPRL
490	500	510	520	530	540
PGASNAEYRL	KEKFFMRKVQ	INDKDDTNEY	KHAFEIILKD	ENSVIFSAKS	AEEKNNWMAA
550	560	570	580	590	600
LISLQYRSTL	ERMLDVTMLQ	EEKEEQMRLP	SADVYRFAEP	DSEENIIFEE	NMQPKAGIPI
610	620	630	640	650	660
IKAGTVIKLI	ERLTYHMYAD	PNFVRTFLTT	YRSFCKPQEL	LSLIIERFEI	PEPEPTEADR
670	680	690	700	710	720
IAIENGDQPL	SAELKRFRKE	YIQPVQLRVL	NVCRHWVEHH	FYDFERDAYL	LQRMEEFIGT
730	740	750	760	770	780
VRGKAMKKWV	ESITKIIQRK	KIARDNGPGH	NITFQSSPPT	VEWHISRPGH	IETFDLLTLH
790	800	810	820	830	840
PIEIARQLTL	LESDLYRAVQ	PSELVGSVWT	KEDKEINSPN	LLKMIRHTTN	LTLWFEKCIV
850	860	870	880	890	900
ETENLEERVA	VVSRIIEILQ	VFQELNNFNG	VLEVVSAMNS	SPVYRLDHTF	EQIPSRQKKI
910	920	930	940	950	960
LEEAHELSED	HYKKYLAKLR	SINPPCVPFF	GIYLTNILKT	EEGNPEVLKR	HGKELINFSK
970	980	990	1000	1010	1020
RRKVAEITGE	IQQYQNQPYC	LRVESDIKRF	FENLNPMGNS	MEKEFTDYLF	NKSLEIEPRN
1030	1040	1050	1060	1070	1080
PKPLPRFPKK	YSYPLKSPGV	RPSNPRPGTM	RHPTPLQQEP	RKISYSRIPE	SETESTASAP
1090	1100	1110	1120	1130	1140
NSPRTPLTPP	PASGASSTTD	VCSVFDSDHS	SPFHSSNDTV	FIQVTLPHGP	RSASVSSISL
1150	1160	1170	1180	1190	1200
TKGTDEVPVP	PPVPPRRRPE	SAPAESSPSK	IMSKHLDSPP	AIPPRQPTSK	AYSPRYSISD
1210	1220	1230	1240	1250	1260
RTSISDPPES	PPLLPPREPV	RTPDVFSSSP	LHLQPPPLGK	KSDHGNAFFP	NSPSPFTPPP
1270	1280	1290	1300	1310	1320
PQTPSPHGTR	RHLPSPPLTQ	EVDLHSIAGP	PVPPRQSTSQ	HIPKLPPKTY	KREHTHPSMH
1330
RDGPPLLENA	HSS