STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
11.0	324	144	287	167	354	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
12.0	66	12	39	28	30	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
13.0	11	4	18	4	16	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
14.0	2	0	29	10	38	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
15.0	1	0	1	11	1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
16.0	0	0	0	2	1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
17.0	1	3	4	0	1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
18.0	0	0	1	2	6	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
19.0	0	0	0	0	4	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
20.0	0	0	0	0	1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
10.0	66	10	22	13	21	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
10.7	0	0	0	0	1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
22.0	0	0	1	0	0	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
5.0	1	0	0	0	2	GGCGGCGGCGGCGGC
6.0	3	0	0	0	1	GGCGGCGGCGGCGGCGGC
7.0	2	0	2	4	2	GGCGGCGGCGGCGGCGGCGGC
8.0	156	9	2	6	1	GGCGGCGGCGGCGGCGGCGGCGGC
8.3	0	0	1	2	0	GGCGGCGGCGGCGGCGGCGGCGGCG
9.0	5	0	1	0	0	GGCGGCGGCGGCGGCGGCGGCGGCGGC
9.3	2	0	0	0	0	GGCGGCGGCGGCGGCGGCGGCGGCGGCG
10.3	0	0	0	1	0	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
11:119028813	Monocyte percentage of white cells,	4.0E-12	rs626776	downstream	-48188	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119028813	Monocyte count,	5.0E-12	rs626776	downstream	-48188	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119028813	Neutrophil percentage of white cells,	5.0E-15	rs626776	downstream	-48188	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119029849	Lymphocyte counts,	8.0E-9	rs485030	downstream	-47152	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119030752	Neutrophil percentage of white cells,	2.0E-9	rs674424	downstream	-46249	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119040485	Platelet-to-lymphocyte ratio,	5.0E-8	rs113575891	downstream	-36516	Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
11:119043745	Calcium levels,	5.0E-16	rs561830	downstream	-33256	Genetically-Determined Serum Calcium Levels and Markers of Ventricular Repolarisation: A Mendelian Randomization Study in the UK Biobank.
11:119044535	Mean reticulocyte volume,	1.0E-9	rs150153921	downstream	-32466	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119053596	Hemoglobin A1c levels,	1.0E-11	rs200343163	downstream	-23405	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119055362	Serum albumin levels,	3.0E-9	rs7929799	downstream	-21639	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119060963	Plateletcrit,	1.0E-57	rs45535039	downstream	-16038	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119062889	Lymphocyte counts,	2.0E-13	rs7945884	downstream	-14112	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119065044	Platelet count,	7.0E-194	rs11217176	downstream	-11957	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119065044	Platelet count,	5.0E-145	rs11217176	downstream	-11957	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119065709	Lymphocyte counts,	9.0E-15	rs10750139	downstream	-11292	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119070949	Sex hormone-binding globulin levels adjusted for BMI,	6.0E-15	rs55771168	downstream	-6052	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119070949	Sex hormone-binding globulin levels,	8.0E-16	rs55771168	downstream	-6052	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119070949	Monocyte count,	8.0E-17	rs55771168	downstream	-6052	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119073886	Platelet count,	3.0E-48	rs7104210	downstream	-3115	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119073886	Platelet count,	1.0E-242	rs7104210	downstream	-3115	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119073886	Platelet count,	4.0E-173	rs7104210	downstream	-3115	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119073886	Plateletcrit,	7.0E-76	rs7104210	downstream	-3115	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119075323	Plateletcrit,	5.0E-52	rs4938637	downstream	-1678	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119075323	Plateletcrit,	6.0E-55	rs4938637	downstream	-1678	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119077003	Platelet count,	4.0E-34	rs7108857	upstream	2	Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
11:119080037	Platelet count,	1.0E-63	rs2155380	upstream	3036	Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
11:119083318	Platelet count,	3.0E-43	rs36109901	upstream	6317	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119083318	Platelet-to-lymphocyte ratio,	6.0E-57	rs36109901	upstream	6317	Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
11:119089055	Platelet count,	2.0E-17	rs1893033	upstream	12054	Circulating chemerin levels are determined through circulating platelet counts in nondiabetic Taiwanese people: A bidirectional Mendelian randomization study.
11:119094647	Platelet count,	5.0E-11	rs11217191	upstream	17646	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
11:119094647	Platelet count,	2.0E-46	rs11217191	upstream	17646	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119095761	Aspartate aminotransferase platelet ratio index in high alcohol intake,	7.0E-9	rs11217192	upstream	18760	Genome-wide Association Study for Alcohol-related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1.
11:119095761	Fibrosis-4 index in high alcohol intake,	8.0E-8	rs11217192	upstream	18760	Genome-wide Association Study for Alcohol-related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1.
11:119095761	C-reactive protein levels,	1.0E-8	rs11217192	upstream	18760	Genetic analysis of over half a million people characterises C-reactive protein loci.
11:119099086	Lymphocyte counts,	5.0E-19	rs11217196	upstream	22085	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119099524	Sex hormone-binding globulin levels,	8.0E-9	rs757253787	upstream	22523	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119099524	Sex hormone-binding globulin levels adjusted for BMI,	3.0E-9	rs757253787	upstream	22523	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119099906	Platelet count,	8.0E-11	rs4938642	upstream	22905	New gene functions in megakaryopoiesis and platelet formation.
11:119099906	Calcium levels,	2.0E-14	rs4938642	upstream	22905	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119114215	Monocyte count,	2.0E-12	rs34286258	upstream	37214	A cross-population atlas of genetic associations for 220 human phenotypes.
11:119116603	Mean corpuscular volume,	1.0E-14	rs7114172	upstream	39602	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
11:119120368	Mean corpuscular volume,	1.0E-12	rs773502414	upstream	43367	The Polygenic and Monogenic Basis of Blood Traits and Diseases.
11:119120372	Sex hormone-binding globulin levels adjusted for BMI,	5.0E-9	rs770971500	upstream	43371	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119120372	Sex hormone-binding globulin levels,	3.0E-9	rs770971500	upstream	43371	Using human genetics to understand the disease impacts of testosterone in men and women.
11:119121437	Mean corpuscular volume,	2.0E-15	rs11217215	upstream	44436	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
11:119027013	NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977	Glucose-6-phosphate transport defect	-49988	Conflicting interpretations of pathogenicity
11:119027035	NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)	rs193302902	not provided	-49966	not provided
11:119027069	NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	rs551439289	Glucose-6-phosphate transport defect	-49932	Pathogenic/Likely pathogenic
11:119027609	NM_001164277.2(SLC37A4):c.626+19C>T	rs741811	not specified\|Glucose-6-phosphate transport defect\|Phosphate transport defect	-49392	Benign
11:119027614	NM_001164277.2(SLC37A4):c.626+14C>T	rs56394886	not specified\|Glucose-6-phosphate transport defect\|Phosphate transport defect	-49387	Benign
11:119027628	NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)	NA	Glucose-6-phosphate transport defect	-49373	Pathogenic
11:119027660	NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)	rs34203644	not specified\|not provided\|Glucose-6-phosphate transport defect	-49341	Benign/Likely benign
11:119027681	NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888	not provided\|Glucose-6-phosphate transport defect	-49320	Pathogenic/Likely pathogenic
11:119027691	NM_022169.5(ABCG4):c.1035C>T (p.Asn345=)	rs12271907	not provided	-49310	Benign
11:119027706	NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)	rs193302893	not provided\|Glucose-6-phosphate transport defect	-49295	Pathogenic
11:119027711	NM_022169.5(ABCG4):c.1055C>T (p.Pro352Leu)	rs35060365	not provided	-49290	Benign
11:119027728	NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg)	rs193302895	not provided	-49273	not provided
11:119027757	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	rs186476316	not provided\|Glucose-6-phosphate transport defect\|Phosphate transport defect;Glucose-6-phosphate transport defect	-49244	Conflicting interpretations of pathogenicity
11:119027787	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	rs201036248	not provided\|Glucose-6-phosphate transport defect\|Glycogen storage disease, type I\|Phosphate transport defect;Glucose-6-phosphate transport defect	-49214	Conflicting interpretations of pathogenicity
11:119027796	NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	rs193302890	not provided\|Glucose-6-phosphate transport defect	-49205	Uncertain significance
11:119027806	NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	not provided\|Glucose-6-phosphate transport defect	-49195	Likely pathogenic
11:119027808	NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)	rs193302892	not provided\|Glucose-6-phosphate transport defect	-49193	Pathogenic
11:119027811	NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)	rs193302879	not provided\|Glucose-6-phosphate transport defect	-49190	Pathogenic
11:119027821	NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)	rs863224210	not provided\|Glucose-6-phosphate transport defect	-49180	Uncertain significance
11:119027856	NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro)	rs193302896	not provided	-49145	not provided
11:119028193	NM_001164277.2(SLC37A4):c.381+1G>A	rs786204637	Glucose-6-phosphate transport defect	-48808	Likely pathogenic
11:119028223	NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	rs80356489	Glucose-6-phosphate transport defect\|not provided	-48778	Pathogenic
11:119028288	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	Phosphate transport defect\|Glucose-6-phosphate transport defect\|Glycogen storage disease, type I	-48713	Conflicting interpretations of pathogenicity
11:119028312	NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp)	rs193302886	not provided	-48689	not provided
11:119028321	NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro)	rs193302899	not provided	-48680	not provided
11:119028373	NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	rs193302885	not provided\|Glucose-6-phosphate transport defect	-48628	Likely pathogenic
11:119028392	NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)	rs34123220	not specified\|Glycogen storage disease, type I\|Glucose-6-phosphate transport defect	-48609	Benign
11:119028412	NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)	rs193302884	not provided	-48589	not provided
11:119028413	NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg)	rs193302898	not provided	-48588	not provided
11:119028426	NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)	rs193302877	not provided\|Glucose-6-phosphate transport defect	-48575	Uncertain significance
11:119028440	NM_001164277.2(SLC37A4):c.149-14A>G	rs79849261	not specified\|Glycogen storage disease, type I\|Glucose-6-phosphate transport defect\|Phosphate transport defect	-48561	Benign
11:119029221	NM_001164277.2(SLC37A4):c.148+1G>A	NA	Glucose-6-phosphate transport defect\|Phosphate transport defect	-47780	Pathogenic
11:119029222	NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg)	rs193302894	not provided	-47779	not provided
11:119029287	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	Glucose-6-phosphate transport defect\|not provided	-47714	Pathogenic/Likely pathogenic
11:119029288	NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	rs193302882	not provided\|Glucose-6-phosphate transport defect	-47713	Pathogenic
11:119029289	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	rs193302889	not provided\|Glycogen storage disease, type I\|6 conditions\|Glucose-6-phosphate transport defect	-47712	Conflicting interpretations of pathogenicity
11:119029300	NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)	rs193302887	not provided\|Glucose-6-phosphate transport defect	-47701	Likely pathogenic
11:119029311	NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	rs193302881	not provided\|Glucose-6-phosphate transport defect	-47690	Pathogenic/Likely pathogenic
11:119029369	NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	rs786204740	Glucose-6-phosphate transport defect	-47632	Pathogenic/Likely pathogenic
11:119030552	NM_001164277.2(SLC37A4):c.-516G>A	rs3759012	not specified\|Glycogen storage disease, type I	-46449	Benign
11:119038743	NM_001282358.1(NLRX1):c.-462G>A	rs199476026	not provided	-38258	not provided
11:119038743	NM_001282358.1(NLRX1):c.-462G>A	rs199476026	not provided	-38258	not provided
11:119039030	NM_001282358.1(NLRX1):c.-175G>A	rs199476027	not provided	-37971	not provided
11:119039030	NM_001282358.1(NLRX1):c.-175G>A	rs199476027	not provided	-37971	not provided
11:119039051	NM_001282358.2(NLRX1):c.-154T>C	rs199476028	not provided	-37950	not provided
11:119039051	NM_001282358.2(NLRX1):c.-154T>C	rs199476028	not provided	-37950	not provided
11:119039151	NM_001282358.2(NLRX1):c.-54C>T	rs199476029	not provided	-37850	not provided
11:119039151	NM_001282358.2(NLRX1):c.-54C>T	rs199476029	not provided	-37850	not provided
11:119039290	NM_001282358.2(NLRX1):c.-49+134C>T	rs199476030	not provided	-37711	not provided
11:119039290	NM_001282358.2(NLRX1):c.-49+134C>T	rs199476030	not provided	-37711	not provided
11:119039391	NM_001282358.2(NLRX1):c.-49+235T>C	rs199476031	not provided	-37610	not provided
11:119039391	NM_001282358.2(NLRX1):c.-49+235T>C	rs199476031	not provided	-37610	not provided
11:119042066	NM_001282144.2(NLRX1):c.-47A>G	rs199476032	not provided	-34935	not provided
11:119042066	NM_001282144.2(NLRX1):c.-47A>G	rs199476032	not provided	-34935	not provided
11:119042076	NM_001282144.2(NLRX1):c.-37G>C	rs199476033	not provided	-34925	not provided
11:119042076	NM_001282144.2(NLRX1):c.-37G>C	rs199476033	not provided	-34925	not provided
11:119042425	NM_001282144.2(NLRX1):c.70+243G>C	rs199476034	not provided	-34576	not provided
11:119042425	NM_001282144.2(NLRX1):c.70+243G>C	rs199476034	not provided	-34576	not provided
11:119042437	NM_001282144.2(NLRX1):c.70+255G>A	rs199476035	not provided	-34564	not provided
11:119042437	NM_001282144.2(NLRX1):c.70+255G>A	rs199476035	not provided	-34564	not provided
11:119043071	NM_001282144.2(NLRX1):c.77G>A (p.Arg26His)	rs60612369	not provided	-33930	Benign
11:119043394	NM_001282144.2(NLRX1):c.141-216G>A	rs199476036	not provided	-33607	not provided
11:119043394	NM_001282144.2(NLRX1):c.141-216G>A	rs199476036	not provided	-33607	not provided
11:119044068	NM_001282144.2(NLRX1):c.230-120T>C	rs199476037	not provided	-32933	not provided
11:119044068	NM_001282144.2(NLRX1):c.230-120T>C	rs199476037	not provided	-32933	not provided
11:119044077	NM_001282144.2(NLRX1):c.230-111C>T	rs199476038	not provided	-32924	not provided
11:119044077	NM_001282144.2(NLRX1):c.230-111C>T	rs199476038	not provided	-32924	not provided
11:119044096	NM_001282144.2(NLRX1):c.230-92G>A	rs199476039	not provided	-32905	not provided
11:119044096	NM_001282144.2(NLRX1):c.230-92G>A	rs199476039	not provided	-32905	not provided
11:119044097	NM_001282144.2(NLRX1):c.230-91T>C	rs199476040	not provided	-32904	not provided
11:119044097	NM_001282144.2(NLRX1):c.230-91T>C	rs199476040	not provided	-32904	not provided
11:119044339	NM_001282144.2(NLRX1):c.381C>T (p.Pro127=)	rs779922768	not provided	-32662	Likely benign
11:119044518	NM_001282144.2(NLRX1):c.560G>A (p.Arg187Gln)	rs199476041	not provided	-32483	not provided
11:119044518	NM_001282144.2(NLRX1):c.560G>A (p.Arg187Gln)	rs199476041	not provided	-32483	not provided
11:119044752	NM_001282144.2(NLRX1):c.794C>T (p.Pro265Leu)	rs199476042	not provided	-32249	not provided
11:119044752	NM_001282144.2(NLRX1):c.794C>T (p.Pro265Leu)	rs199476042	not provided	-32249	not provided
11:119045226	NM_001282144.2(NLRX1):c.914G>A (p.Arg305His)	rs199476043	not provided	-31775	not provided
11:119045226	NM_001282144.2(NLRX1):c.914G>A (p.Arg305His)	rs199476043	not provided	-31775	not provided
11:119045278	NM_001282144.2(NLRX1):c.966C>T (p.Phe322=)	rs199476044	not provided	-31723	not provided
11:119045278	NM_001282144.2(NLRX1):c.966C>T (p.Phe322=)	rs199476044	not provided	-31723	not provided
11:119045431	NM_001282144.2(NLRX1):c.1119T>C (p.Tyr373=)	rs75827485	not provided	-31570	Benign
11:119045520	GRCh37/hg19 11q23.3(chr11:119045520-119053858)x1	NA	not provided	-31481	Benign
11:119045785	NM_001282144.2(NLRX1):c.1473G>A (p.Val491=)	rs199476045	not provided	-31216	not provided
11:119045785	NM_001282144.2(NLRX1):c.1473G>A (p.Val491=)	rs199476045	not provided	-31216	not provided
11:119045796	NM_001282144.2(NLRX1):c.1484C>T (p.Pro495Leu)	rs199476046	not provided	-31205	not provided
11:119045796	NM_001282144.2(NLRX1):c.1484C>T (p.Pro495Leu)	rs199476046	not provided	-31205	not provided
11:119045920	NM_001282144.2(NLRX1):c.1608A>C (p.Val536=)	rs199476047	not provided	-31081	not provided
11:119045920	NM_001282144.2(NLRX1):c.1608A>C (p.Val536=)	rs199476047	not provided	-31081	not provided
11:119045968	NM_001282144.2(NLRX1):c.1656C>T (p.Leu552=)	rs199476048	not provided	-31033	not provided
11:119045968	NM_001282144.2(NLRX1):c.1656C>T (p.Leu552=)	rs199476048	not provided	-31033	not provided
11:119050849	GRCh37/hg19 11q23.3(chr11:119050849-119053858)x1	NA	not provided	-26152	Benign
11:119050874	NM_001282144.2(NLRX1):c.2144T>G (p.Val715Gly)	rs199476049	not provided	-26127	not provided
11:119050874	NM_001282144.2(NLRX1):c.2144T>G (p.Val715Gly)	rs199476049	not provided	-26127	not provided
11:119050982	NM_001282144.2(NLRX1):c.2252G>A (p.Arg751His)	rs530058063	Long QT syndrome	-26019	Likely benign
11:119050982	NM_001282144.2(NLRX1):c.2252G>A (p.Arg751His)	rs530058063	Long QT syndrome	-26019	Likely benign
11:119052214	NM_001282144.2(NLRX1):c.2354+248A>G	rs199476050	not provided	-24787	not provided
11:119052214	NM_001282144.2(NLRX1):c.2354+248A>G	rs199476050	not provided	-24787	not provided
11:119052724	NM_001282144.2(NLRX1):c.2355-79G>A	rs199476051	not provided	-24277	not provided
11:119052724	NM_001282144.2(NLRX1):c.2355-79G>A	rs199476051	not provided	-24277	not provided
11:119052976	NM_001282144.2(NLRX1):c.2528C>T (p.Ala843Val)	rs199476052	not provided	-24025	not provided
11:119052976	NM_001282144.2(NLRX1):c.2528C>T (p.Ala843Val)	rs199476052	not provided	-24025	not provided
11:119053027	NM_001282144.2(NLRX1):c.2579G>A (p.Arg860Gln)	rs199476053	not provided	-23974	not provided
11:119053027	NM_001282144.2(NLRX1):c.2579G>A (p.Arg860Gln)	rs199476053	not provided	-23974	not provided
11:119054455	NM_001282144.2(NLRX1):c.*307C>A	rs199476054	not provided	-22546	not provided
11:119054455	NM_001282144.2(NLRX1):c.*307C>A	rs199476054	not provided	-22546	not provided
11:119076963	Single allele	NA	not provided	-38	Likely benign
11:119076971	NM_005188.3(CBL):c.-157A>G	rs527849757	Noonan-like syndrome	-30	Likely benign
11:119076999	NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG	rs758396206	Noonan-like syndrome\|Noonan syndrome and Noonan-related syndrome	-2	Uncertain significance
11:119076999	NM_005188.3(CBL):c.-103_-95dupGGCGGCGGC	rs57028199	Noonan-like syndrome\|not provided	-2	Conflicting interpretations of pathogenicity
11:119076999	NM_005188.3(CBL):c.-126_-125insTGGCGG	rs758396206	Noonan-like syndrome	-2	Uncertain significance
11:119076999	NM_005188.3(CBL):c.-106_-95dupGGCGGCGGCGGC	rs57028199	Noonan-like syndrome	-2	Uncertain significance
11:119076999	NM_005188.3(CBL):c.-100_-95dupGGCGGC	rs57028199	Noonan-like syndrome\|not provided\|Noonan syndrome and Noonan-related syndrome	-2	Conflicting interpretations of pathogenicity
11:119076999	NM_005188.3(CBL):c.-97_-95dupGGC	rs57028199	Noonan-like syndrome\|not provided\|Noonan syndrome and Noonan-related syndrome	-2	Conflicting interpretations of pathogenicity
11:119077000	NM_005188.3(CBL):c.-103_-95delGGCGGCGGC	rs57028199	Noonan-like syndrome\|not provided\|Noonan syndrome and Noonan-related syndrome	-1	Conflicting interpretations of pathogenicity
11:119077000	NM_005188.3(CBL):c.-126_-125insTGG	rs878976124	Noonan-like syndrome\|not provided\|Noonan syndrome and Noonan-related syndrome	-1	Conflicting interpretations of pathogenicity
11:119077000	Single allele	NA	not provided	-1	Benign
11:119077003	NM_005188.3(CBL):c.-125C>T	rs7108857	CBL-related disorder\|not provided	2	Benign
11:119077003	NM_005188.3(CBL):c.-125_-116delinsT	rs886047763	Noonan-like syndrome	2	Uncertain significance
11:119077004	NM_005188.3(CBL):c.-124G>T	rs886047764	CBL-related disorder	3	Uncertain significance
11:119077006	NM_005188.3(CBL):c.-122C>T	rs886047765	CBL-related disorder	5	Uncertain significance
11:119077012	Single allele	NA	not provided	11	Likely benign
11:119077015	NM_005188.3(CBL):c.-113C>T	rs886047766	CBL-related disorder	14	Uncertain significance
11:119077022	NM_005188.3(CBL):c.-106G>A	rs569014495	CBL-related disorder	21	Benign
11:119077032	NM_005188.3(CBL):c.-96G>A	rs548262208	CBL-related disorder\|not provided	31	Benign/Likely benign
11:119077045	NM_005188.3(CBL):c.-83C>T	rs1592364458	CBL-related disorder	44	Uncertain significance
11:119077049	NM_005188.4(CBL):c.-79C>T	rs886047767	CBL-related disorder	48	Uncertain significance
11:119077081	NM_005188.4(CBL):c.-44AGCCG[3]	NA	not provided	80	Benign
11:119077087	NM_005188.4(CBL):c.-41C>T	rs751528430	CBL-related disorder	86	Uncertain significance
11:119077102	NM_005188.4(CBL):c.-26G>C	NA	not provided	101	Benign
11:119077108	NC_000011.9:g.(?_119077108)_(120133495_?)dup	NA	RASopathy	107	Uncertain significance
11:119077123	NM_005188.4(CBL):c.-5A>G	rs552214111	not specified\|not provided	122	Conflicting interpretations of pathogenicity
11:119077133	NM_005188.4(CBL):c.6C>G (p.Ala2=)	rs770473070	RASopathy\|Noonan syndrome and Noonan-related syndrome	132	Likely benign
11:119077135	NM_005188.4(CBL):c.8G>T (p.Gly3Val)	NA	RASopathy	134	Uncertain significance
11:119077139	NM_005188.4(CBL):c.12C>T (p.Asn4=)	rs371567712	not specified\|RASopathy	138	Benign/Likely benign
11:119077139	NM_005188.4(CBL):c.12C>T (p.Asn4=)	rs371567712	not specified\|RASopathy	138	Benign/Likely benign
11:119077143	NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	NA	Noonan syndrome and Noonan-related syndrome	142	Uncertain significance
11:119077150	NM_005188.4(CBL):c.23G>A (p.Ser8Asn)	rs930860175	RASopathy	149	Uncertain significance
11:119077152	NM_005188.4(CBL):c.25T>C (p.Ser9Pro)	NA	RASopathy	151	Uncertain significance
11:119077157	NM_005188.4(CBL):c.30G>A (p.Gly10=)	NA	RASopathy	156	Likely benign
11:119077160	NM_005188.4(CBL):c.33C>T (p.Ala11=)	NA	RASopathy\|not specified	159	Likely benign
11:119077163	NM_005188.4(CBL):c.36G>A (p.Gly12=)	NA	RASopathy	162	Likely benign
11:119077167	NM_005188.4(CBL):c.40G>A (p.Gly14Ser)	rs1565851542	RASopathy	166	Uncertain significance
11:119077168	NM_005188.4(CBL):c.41G>A (p.Gly14Asp)	rs868791422	CBL-related disorder	167	Uncertain significance
11:119077170	NM_005188.4(CBL):c.43_44delinsCC (p.Ser15Pro)	rs1555225091	RASopathy	169	Uncertain significance
11:119077182	NM_005188.4(CBL):c.55G>A (p.Gly19Ser)	NA	RASopathy	181	Uncertain significance
11:119077187	NM_005188.4(CBL):c.60G>T (p.Ser20=)	rs758583427	not specified\|not provided\|RASopathy	186	Likely benign
11:119077187	NM_005188.4(CBL):c.60G>C (p.Ser20=)	NA	RASopathy	186	Likely benign
11:119077193	NM_005188.4(CBL):c.66G>A (p.Ser22=)	rs1555225100	RASopathy	192	Uncertain significance
11:119077204	NM_005188.4(CBL):c.77T>C (p.Ile26Thr)	NA	Noonan syndrome and Noonan-related syndrome	203	Uncertain significance
11:119077207	NM_005188.4(CBL):c.80G>T (p.Gly27Val)	rs933058944	RASopathy	206	Uncertain significance
11:119077220	NM_005188.4(CBL):c.93C>A (p.Asp31Glu)	rs376679438	CBL-related disorder\|not provided\|RASopathy	219	Uncertain significance
11:119077221	NM_005188.4(CBL):c.94G>A (p.Ala32Thr)	NA	RASopathy	220	Uncertain significance
11:119077225	NM_005188.4(CBL):c.98T>A (p.Phe33Tyr)	NA	RASopathy	224	Uncertain significance
11:119077232	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	rs373212940	not specified\|Noonan-like syndrome\|not provided\|RASopathy\|Noonan syndrome and Noonan-related syndrome	231	Benign/Likely benign
11:119077232	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	rs373212940	not specified\|Noonan-like syndrome\|not provided\|RASopathy\|Noonan syndrome and Noonan-related syndrome	231	Benign/Likely benign
11:119077232	NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)	rs373212940	RASopathy\|not specified\|not provided	231	Conflicting interpretations of pathogenicity
11:119077232	NM_005188.4(CBL):c.107ACC[11] (p.His39_His42dup)	NA	RASopathy	231	Uncertain significance
11:119077233	NM_005188.4(CBL):c.107ACC[6] (p.His42del)	rs373212940	RASopathy\|not specified	232	Benign/Likely benign
11:119077233	NM_005188.4(CBL):c.107ACC[6] (p.His42del)	rs373212940	RASopathy\|not specified	232	Benign/Likely benign
11:119077233	NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del)	rs373212940	not specified\|RASopathy	232	Uncertain significance
11:119077235	NM_005188.4(CBL):c.108C>G (p.His36Gln)	rs748961080	RASopathy	234	Uncertain significance
11:119077235	NM_005188.4(CBL):c.108C>T (p.His36=)	NA	RASopathy	234	Likely benign
11:119077245	NM_005188.4(CBL):c.118C>G (p.His40Asp)	rs1949270382	not specified	244	Uncertain significance
11:119077247	NM_005188.4(CBL):c.120C>G (p.His40Gln)	rs745328496	not provided	246	Uncertain significance
11:119077247	NM_005188.4(CBL):c.120C>T (p.His40=)	rs745328496	RASopathy	246	Likely benign
11:119077250	NM_005188.4(CBL):c.123C>T (p.His41=)	NA	RASopathy	249	Likely benign
11:119077251	NM_005188.4(CBL):c.124C>T (p.His42Tyr)	NA	RASopathy	250	Uncertain significance
11:119077252	NM_005188.4(CBL):c.125A>T (p.His42Leu)	rs730880433	not provided\|RASopathy	251	Conflicting interpretations of pathogenicity
11:119077252	NM_005188.4(CBL):c.125A>T (p.His42Leu)	rs730880433	not provided\|RASopathy	251	Conflicting interpretations of pathogenicity
11:119077252	NM_005188.4(CBL):c.127_129dup (p.Leu43dup)	rs1555225106	RASopathy	251	Uncertain significance
11:119077253	NM_005188.4(CBL):c.126C>T (p.His42=)	rs995977491	not provided\|RASopathy	252	Likely benign
11:119077254	NM_005188.4(CBL):c.127C>A (p.Leu43Ile)	NA	RASopathy	253	Uncertain significance
11:119077256	NM_005188.4(CBL):c.129C>T (p.Leu43=)	NA	RASopathy	255	Likely benign
11:119077283	NM_005188.4(CBL):c.156C>A (p.Asp52Glu)	NA	RASopathy	282	Uncertain significance
11:119077311	NM_005188.4(CBL):c.184C>T (p.Leu62Phe)	rs1459635883	RASopathy	310	Uncertain significance
11:119077311	NM_005188.4(CBL):c.184C>G (p.Leu62Val)	NA	RASopathy	310	Uncertain significance
11:119077319	NM_005188.4(CBL):c.192C>G (p.Asp64Glu)	rs1565851628	not provided\|RASopathy	318	Uncertain significance
11:119077325	NM_005188.4(CBL):c.195+3G>A	rs762062705	not specified\|RASopathy\|Noonan syndrome and Noonan-related syndrome	324	Conflicting interpretations of pathogenicity
11:119077327	NM_005188.4(CBL):c.195+5A>G	rs1949271201	RASopathy	326	Uncertain significance
11:119077332	NM_005188.4(CBL):c.195+10C>A	rs878854755	RASopathy	331	Likely benign
11:119077332	NM_005188.4(CBL):c.195+10C>A	rs878854755	RASopathy	331	Likely benign
11:119077334	NM_005188.4(CBL):c.195+12_195+13delinsTT	rs1949271281	not specified\|RASopathy	333	Conflicting interpretations of pathogenicity
11:119077334	NM_005188.4(CBL):c.195+12G>T	NA	not provided	333	Benign
11:119077334	NM_005188.4(CBL):c.195+12G>C	NA	RASopathy	333	Likely benign
11:119077335	NM_005188.4(CBL):c.195+13C>T	NA	not provided\|RASopathy	334	Benign
11:119077336	NM_005188.4(CBL):c.195+14T>G	rs1011872703	not specified	335	Uncertain significance
11:119077340	NM_005188.4(CBL):c.195+18C>T	NA	RASopathy	339	Likely benign
11:119077344	NM_005188.4(CBL):c.195+22C>T	NA	not provided	343	Likely benign
11:119077398	NM_005188.4(CBL):c.195+76G>C	NA	not provided	397	Benign
11:119081189	NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	rs34757931	Leukoencephalopathy\|Hypomyelinating leukodystrophy 12\|not provided	4188	Pathogenic/Likely pathogenic
11:119085034	NM_000190.4(HMBS):c.1A>G (p.Met1Val)	rs118204118	Porphyria, acute intermittent, nonerythroid variant\|not provided	8033	Uncertain significance
11:119085067	NM_000190.4(HMBS):c.33+1G>A	rs1565750784	Porphyria, acute intermittent, nonerythroid variant	8066	Pathogenic
11:119085067	NM_000190.4(HMBS):c.33+1G>T	rs1565750784	Porphyria, acute intermittent, nonerythroid variant	8066	Pathogenic
11:119088259	NM_000190.4(HMBS):c.41del (p.Asn14fs)	rs1592212904	Porphyria, acute intermittent, nonerythroid variant	11258	Pathogenic
11:119088298	NM_000190.4(HMBS):c.77G>A (p.Arg26His)	rs118204103	Acute intermittent porphyria\|not provided	11297	Pathogenic
11:119088638	NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)	rs118204104	Acute intermittent porphyria	11637	Pathogenic
11:119088647	NM_000190.4(HMBS):c.100C>A (p.Gln34Lys)	rs118204105	Acute intermittent porphyria	11646	Pathogenic
11:119089084	NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)	rs118204106	Acute intermittent porphyria\|not provided	12083	Uncertain significance
11:119089094	NM_000190.4(HMBS):c.174del (p.Thr59fs)	rs1565754285	Acute intermittent porphyria	12093	Pathogenic
11:119089098	NM_000190.4(HMBS):c.181dup (p.Asp61fs)	rs1565754296	Acute intermittent porphyria	12097	Pathogenic
11:119089216	NM_000190.4(HMBS):c.211-1G>A	rs1565754452	Acute intermittent porphyria	12215	Pathogenic
11:119089248	NM_000190.4(HMBS):c.242T>C (p.Leu81Pro)	rs118204119	Acute intermittent porphyria	12247	Pathogenic
11:119089263	NM_000190.4(HMBS):c.257A>T (p.Glu86Val)	rs150763621	Acute intermittent porphyria\|not provided	12262	Conflicting interpretations of pathogenicity
11:119089273	NM_000190.4(HMBS):c.266+1G>C	rs1565754565	Acute intermittent porphyria	12272	Pathogenic
11:119089747	NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)	rs118204107	Acute intermittent porphyria\|not provided	12746	Pathogenic
11:119089991	NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)	rs118204094	Acute intermittent porphyria\|not provided	12990	Pathogenic
11:119090194	NM_000190.4(HMBS):c.427G>A (p.Val143Met)	rs797044923	Inborn genetic diseases	13193	Uncertain significance
11:119090212	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)	rs118204120	Acute intermittent porphyria\|not provided	13211	Pathogenic
11:119090213	NM_000190.4(HMBS):c.446G>A (p.Arg149Gln)	rs118204098	Acute intermittent porphyria	13212	Pathogenic
11:119090230	NM_000190.4(HMBS):c.463C>T (p.Gln155Ter)	rs118204097	Acute intermittent porphyria	13229	Pathogenic
11:119091412	NM_000190.4(HMBS):c.499-1G>A	rs1565756481	Acute intermittent porphyria\|not provided	14411	Pathogenic
11:119091413	NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)	rs118204101	Acute intermittent porphyria\|not provided	14412	Pathogenic
11:119091414	NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)	rs118204095	Acute intermittent porphyria\|not provided	14413	Pathogenic/Likely pathogenic
11:119091414	NM_000190.4(HMBS):c.500G>T (p.Arg167Leu)	rs118204095	Acute intermittent porphyria	14413	Pathogenic
11:119091432	NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)	rs118204096	Acute intermittent porphyria\|not provided	14431	Pathogenic
11:119091444	NM_000190.4(HMBS):c.530T>G (p.Leu177Arg)	rs118204108	Acute intermittent porphyria\|not provided	14443	Pathogenic
11:119091497	NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)	rs34413634	Acute intermittent porphyria\|not provided	14496	Pathogenic
11:119091507	NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)	rs118204100	Acute intermittent porphyria	14506	Pathogenic
11:119091515	NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)	rs118204109	Acute intermittent porphyria\|not provided	14514	Pathogenic/Likely pathogenic
11:119092159	NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)	rs118204116	Acute intermittent porphyria\|not provided	15158	Likely pathogenic
11:119092419	NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)	rs118204110	Acute intermittent porphyria\|not provided	15418	Conflicting interpretations of pathogenicity
11:119092426	NM_000190.4(HMBS):c.674G>A (p.Arg225Gln)	rs142459647	Acute intermittent porphyria\|not provided	15425	Uncertain significance
11:119092480	NM_000190.4(HMBS):c.730_731del (p.Leu244fs)	rs1565757839	Acute intermittent porphyria\|not provided	15479	Pathogenic
11:119092481	NM_000190.4(HMBS):c.734_741dup (p.Ile248fs)	rs1565757857	Acute intermittent porphyria	15480	Pathogenic
11:119092486	NM_000190.4(HMBS):c.734T>G (p.Leu245Arg)	rs118204099	Acute intermittent porphyria	15485	Pathogenic
11:119092491	NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)	rs118204111	Acute intermittent porphyria	15490	Pathogenic
11:119092500	NM_000190.4(HMBS):c.748G>A (p.Glu250Lys)	rs118204112	Acute intermittent porphyria	15499	Pathogenic
11:119092506	NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)	rs118204113	Acute intermittent porphyria	15505	Uncertain significance
11:119092507	NM_000190.4(HMBS):c.755C>T (p.Ala252Val)	rs118204114	Acute intermittent porphyria	15506	Pathogenic
11:119092518	NM_000190.4(HMBS):c.766C>A (p.His256Asn)	rs118204115	Acute intermittent porphyria	15517	Pathogenic
11:119092524	NM_000190.4(HMBS):c.771+1G>C	rs1565758008	Acute intermittent porphyria	15523	Pathogenic
11:119092956	NM_000190.4(HMBS):c.847_848del (p.Trp283fs)	rs1592220835	Acute intermittent porphyria	15955	Pathogenic
11:119092958	NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)	rs118204117	Acute intermittent porphyria\|not provided	15957	Pathogenic
11:119093009	NM_000190.4(HMBS):c.900del (p.His300fs)	rs1565758825	Acute intermittent porphyria	16008	Pathogenic
11:119093109	NM_000190.4(HMBS):c.913-1G>A	NA	Acute intermittent porphyria\|not provided	16108	Pathogenic
11:119093159	NM_000190.4(HMBS):c.962G>A (p.Arg321His)	rs150428209	Acute intermittent porphyria\|not provided	16158	Conflicting interpretations of pathogenicity
11:119093272	NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)	rs144949995	Acute intermittent porphyria\|not provided	16271	Benign/Likely benign
11:119097048	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	rs643788	not specified\|Acute intermittent porphyria\|Congenital disorder of glycosylation\|DPAGT1-CDG\|DPAGT1-CDG;Congenital myasthenic syndrome 13\|Congenital myasthenic syndrome 13	20047	Benign
11:119097475	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	rs138544311	not provided\|Acute intermittent porphyria\|DPAGT1-CDG;Congenital myasthenic syndrome 13\|DPAGT1-CDG	20474	Conflicting interpretations of pathogenicity
11:119097981	NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly)	rs387907245	Congenital myasthenic syndrome 13	20980	Pathogenic
11:119098431	NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)	rs397515321	Congenital myasthenic syndrome 13	21430	Pathogenic
11:119100321	NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	rs863225088	DPAGT1-CDG\|Congenital disorder of glycosylation	23320	Pathogenic
11:119100396	NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)	rs28934876	DPAGT1-CDG\|Congenital myasthenic syndrome 13;DPAGT1-CDG\|not provided\|Congenital disorder of glycosylation	23395	Conflicting interpretations of pathogenicity
11:119100402	NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)	rs397515329	DPAGT1-CDG	23401	Pathogenic
11:119100768	NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met)	rs387907244	Congenital myasthenic syndrome 13	23767	Pathogenic
11:119100774	NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val)	rs398123609	not provided\|DPAGT1-CDG	23773	Uncertain significance
11:119100777	NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	rs387907243	Congenital myasthenic syndrome 13\|Congenital myasthenic syndrome 13;DPAGT1-CDG	23776	Likely pathogenic
11:119100785	NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)	rs397515327	DPAGT1-CDG\|Congenital disorder of glycosylation	23784	Pathogenic/Likely pathogenic
11:119100802	NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)	rs376039938	Congenital myasthenic syndrome 13\|DPAGT1-CDG;Congenital myasthenic syndrome 13	23801	Likely pathogenic
11:119100804	NM_001382.4(DPAGT1):c.322A>G (p.Met108Val)	rs398123608	not provided	23803	Uncertain significance
11:119101094	NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)	rs397514586	DPAGT1-CDG	24093	Pathogenic
11:119101490	NM_001382.4(DPAGT1):c.161+5G>A	rs397515322	DPAGT1-CDG	24489	Pathogenic
11:119101571	NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	rs397515328	DPAGT1-CDG\|Congenital myasthenic syndrome 13;DPAGT1-CDG	24570	Uncertain significance
11:119103139	NM_005188.4(CBL):c.196-19T>C	NA	RASopathy	26138	Likely benign
11:119103142	NM_005188.4(CBL):c.196-16T>C	NA	RASopathy	26141	Likely benign
11:119103146	NM_005188.4(CBL):c.196-12C>G	NA	RASopathy	26145	Likely benign
11:119103163	NM_005188.4(CBL):c.201G>A (p.Val67=)	NA	RASopathy	26162	Likely benign
11:119103164	NM_005188.4(CBL):c.202C>T (p.Arg68Trp)	rs730880429	not provided\|RASopathy	26163	Uncertain significance
11:119103164	NM_005188.4(CBL):c.202C>T (p.Arg68Trp)	rs730880429	not provided\|RASopathy	26163	Uncertain significance
11:119103165	NM_005188.4(CBL):c.203G>A (p.Arg68Gln)	NA	not provided	26164	Uncertain significance
11:119103166	NM_005188.4(CBL):c.204G>T (p.Arg68=)	rs1193552867	not specified\|Noonan syndrome and Noonan-related syndrome	26165	Conflicting interpretations of pathogenicity
11:119103188	NM_005188.4(CBL):c.226G>A (p.Ala76Thr)	rs1483168332	RASopathy	26187	Uncertain significance
11:119103189	NM_005188.4(CBL):c.227C>T (p.Ala76Val)	rs757898729	RASopathy	26188	Uncertain significance
11:119103189	NM_005188.4(CBL):c.227C>A (p.Ala76Glu)	rs757898729	RASopathy	26188	Uncertain significance
11:119103190	NM_005188.4(CBL):c.228G>A (p.Ala76=)	NA	RASopathy	26189	Likely benign
11:119103193	NM_005188.4(CBL):c.231A>G (p.Leu77=)	NA	not specified\|RASopathy	26192	Conflicting interpretations of pathogenicity
11:119103205	NM_005188.4(CBL):c.243A>G (p.Pro81=)	rs863224399	not provided\|RASopathy	26204	Likely benign
11:119103205	NM_005188.4(CBL):c.243A>G (p.Pro81=)	rs863224399	not provided\|RASopathy	26204	Likely benign
11:119103208	NM_005188.4(CBL):c.246T>G (p.Pro82=)	rs764747073	not provided\|RASopathy	26207	Likely benign
11:119103210	NM_005188.4(CBL):c.248A>G (p.Tyr83Cys)	rs1555226659	RASopathy	26209	Uncertain significance
11:119103213	NM_005188.4(CBL):c.251T>G (p.Ile84Ser)	NA	not provided	26212	Uncertain significance
11:119103215	NM_005188.4(CBL):c.253T>C (p.Leu85=)	NA	RASopathy	26214	Likely benign
11:119103222	NM_005188.4(CBL):c.260T>A (p.Leu87Gln)	NA	RASopathy	26221	Uncertain significance
11:119103227	NM_005188.4(CBL):c.265C>T (p.Pro89Ser)	rs1949511407	RASopathy	26226	Uncertain significance
11:119103231	NM_005188.4(CBL):c.269A>G (p.Asp90Gly)	rs1555226661	RASopathy	26230	Uncertain significance
11:119103233	NM_005188.4(CBL):c.271A>G (p.Thr91Ala)	rs587778160	not specified	26232	not provided
11:119103233	NM_005188.4(CBL):c.271A>G (p.Thr91Ala)	rs587778160	not specified	26232	not provided
11:119103248	NM_005188.4(CBL):c.286C>T (p.Arg96Cys)	rs147438359	RASopathy\|not provided	26247	Uncertain significance
11:119103254	NM_005188.4(CBL):c.292A>G (p.Ile98Val)	rs1415440583	RASopathy	26253	Uncertain significance
11:119103258	NM_005188.4(CBL):c.296T>C (p.Leu99Ser)	rs1949511665	CBL-related disorder	26257	Uncertain significance
11:119103268	NM_005188.4(CBL):c.306T>G (p.Tyr102Ter)	rs397507489	not provided\|CBL-related disorder	26267	Pathogenic
11:119103268	NM_005188.4(CBL):c.306T>G (p.Tyr102Ter)	rs397507489	not provided\|CBL-related disorder	26267	Pathogenic
11:119103290	NM_005188.4(CBL):c.328G>A (p.Gly110Arg)	rs1565859798	RASopathy	26289	Uncertain significance
11:119103307	NM_005188.4(CBL):c.345T>C (p.Phe115=)	NA	RASopathy	26306	Likely benign
11:119103309	NM_005188.4(CBL):c.347G>T (p.Arg116Met)	rs748412298	not specified\|not provided	26308	Uncertain significance
11:119103317	NM_005188.4(CBL):c.355A>G (p.Met119Val)	NA	Noonan syndrome and Noonan-related syndrome\|RASopathy	26316	Uncertain significance
11:119103319	NM_005188.4(CBL):c.357G>A (p.Met119Ile)	rs1490142046	not provided\|not specified\|RASopathy	26318	Uncertain significance
11:119103319	NM_005188.4(CBL):c.357G>T (p.Met119Ile)	NA	RASopathy	26318	Uncertain significance
11:119103329	NM_005188.4(CBL):c.367A>T (p.Met123Leu)	rs1949512275	CBL-related disorder	26328	Uncertain significance
11:119103329	NM_005188.4(CBL):c.367A>G (p.Met123Val)	rs1949512275	RASopathy	26328	Uncertain significance
11:119103343	NM_005188.4(CBL):c.381G>A (p.Lys127=)	NA	RASopathy	26342	Likely benign
11:119103350	NM_005188.4(CBL):c.388A>G (p.Ile130Val)	rs587778161	not specified	26349	not provided
11:119103350	NM_005188.4(CBL):c.388A>G (p.Ile130Val)	rs587778161	not specified	26349	not provided
11:119103361	NM_005188.4(CBL):c.399C>T (p.Phe133=)	NA	RASopathy	26360	Likely benign
11:119103363	NM_005188.4(CBL):c.401A>G (p.Lys134Arg)	NA	not specified	26362	Uncertain significance
11:119103367	NM_005188.4(CBL):c.405G>C (p.Glu135Asp)	rs1057519030	CBL-related disorder	26366	Uncertain significance
11:119103368	NM_005188.4(CBL):c.406G>A (p.Gly136Arg)	NA	RASopathy	26367	Uncertain significance
11:119103381	NM_005188.4(CBL):c.419T>G (p.Met140Arg)	rs1555226684	RASopathy	26380	Uncertain significance
11:119103382	NM_005188.4(CBL):c.420G>A (p.Met140Ile)	NA	RASopathy	26381	Uncertain significance
11:119103422	NM_005188.4(CBL):c.443+17A>G	NA	RASopathy	26421	Likely benign

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
11:119029849-119030613	AFR	0.765	-47152	downstream	5	rs485030, rs56870658, rs140818285, rs61313647, rs11238051,
11:119029849-119030097	all_pop	0.249	-47152	downstream	4	rs485030, rs56870658, rs140818285, rs6131364,
11:119030088-119030752	EAS	0.665	-46913	downstream	4	rs56870658, rs140818285, rs61313647, rs67442,
11:119030088-119030097	SAS	0.01	-46913	downstream	3	rs56870658, rs140818285, rs6131364,
11:119030752-119030759	all_pop	0.008	-46249	downstream	2	rs674424, rs414817,
11:119030788-119032689	SAS	1.902	-46213	downstream	3	rs113904368, rs4148173, rs380288,
11:119030812-119032689	EAS	1.878	-46189	downstream	2	rs4148173, rs380288,
11:119031446-119034627	AFR	3.182	-45555	downstream	11	rs76446609, rs3802885, rs73564404, rs79800586, rs73564406, rs59738376, rs58973273, rs59226725, rs1807155, rs55797357, rs53503749,
11:119033850-119034374	all_pop	0.525	-43151	downstream	2	rs73564406, rs5579735,
11:119033850-119047165	SAS	13.316	-43151	downstream	11	rs73564406, rs55797357, rs535037498, rs56230940, rs7483350, rs626984, rs113160059, rs644252, rs643423, rs561830, rs11371248,
11:119034374-119047779	EAS	13.406	-42627	downstream	11	rs55797357, rs535037498, rs76626869, rs56230940, rs7483350, rs626984, rs113160059, rs644252, rs643423, rs561830, rs20135332,
11:119035107-119047444	AFR	12.338	-41894	downstream	36	rs148257564, rs12286863, rs115690699, rs77327677, rs80064516, rs114964609, rs116594122, rs59250458, rs73564470, rs56230940, rs114017134, rs7483350, rs113575891, rs59619377, rs60336388, rs57532845, rs60787944, rs77728428, rs114562630, rs626984, rs142126270, rs11828801, rs76800905, rs144396574, rs573168629, rs58947677, rs113160059, rs644252, rs643423, rs561830, rs76613193, rs78947760, rs80241894, rs75827485, rs73564479, rs11502658,
11:119036573-119043745	EUR	7.173	-40428	downstream	9	rs34267265, rs76626869, rs56230940, rs7483350, rs626984, rs113160059, rs644252, rs643423, rs56183,
11:119037094-119043745	all_pop	6.652	-39907	downstream	10	rs80064516, rs76626869, rs56230940, rs7483350, rs113575891, rs626984, rs113160059, rs644252, rs643423, rs56183,
11:119041659-119043745	AMR	2.087	-35342	downstream	5	rs626984, rs113160059, rs644252, rs643423, rs56183,
11:119050325-119055075	AFR	4.751	-26676	downstream	11	rs74417500, rs73564483, rs77122414, rs77757234, rs114919868, rs4245191, rs553151473, rs45439091, rs10790286, rs5012703, rs1075013,
11:119050765-119055362	SAS	4.598	-26236	downstream	8	rs200846476, rs4245191, rs553151473, rs45439091, rs10790286, rs5012703, rs10750138, rs792979,
11:119052826-119054488	all_pop	1.663	-24175	downstream	4	rs4245191, rs553151473, rs45439091, rs1079028,
11:119052826-119055362	AMR	2.537	-24175	downstream	7	rs4245191, rs553151473, rs45439091, rs10790286, rs5012703, rs10750138, rs792979,
11:119052826-119055362	EAS	2.537	-24175	downstream	7	rs4245191, rs553151473, rs45439091, rs10790286, rs5012703, rs10750138, rs792979,
11:119052826-119055362	EUR	2.537	-24175	downstream	7	rs4245191, rs553151473, rs45439091, rs10790286, rs5012703, rs10750138, rs792979,
11:119055075-119055362	all_pop	0.288	-21926	downstream	2	rs10750138, rs792979,
11:119056273-119059404	all_pop	3.132	-20728	downstream	2	rs73564493, rs181581,
11:119056273-119056873	SAS	0.601	-20728	downstream	2	rs73564493, rs20222244,
11:119056681-119059404	AMR	2.724	-20320	downstream	2	rs45612531, rs181581,
11:119056681-119059404	EUR	2.724	-20320	downstream	2	rs45612531, rs181581,
11:119059321-119059404	AFR	0.084	-17680	downstream	2	rs58206276, rs181581,
11:119060963-119115878	EUR	54.916	-16038	downstream	78	rs45535039, rs57973428, rs45514102, rs11311909, rs7945884, rs2301574, rs11217175, rs11217176, rs11217177, rs12575067, rs7105861, rs55771168, rs7932398, rs11217180, rs7104210, rs4938637, rs4938638, rs7108857, rs11217183, rs11217184, rs2155380, rs7107776, rs6589721, rs7482092, rs36109901, rs117820415, rs11217186, rs10790287, rs73001395, rs6589722, rs4936467, rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893033, rs1893034, rs12273368, rs7111358, rs79047914, rs200583232, rs550380245, rs35094649, rs34840830, rs73003006, rs11217191, rs76317037, rs11217192, rs34092660, rs12277928, rs573139819, rs12786104, rs11217194, rs11217196, rs11217197, rs71470961, rs4938642, rs11217200, rs76124529, rs6589723, rs7113047, rs7107494, rs7482443, rs11217204, rs12286018, rs6589724, rs6589725, rs7120073, rs7104273, rs11217209, rs35760686, rs373743435, rs6589726, rs532837579, rs7300301,
11:119061879-119062687	all_pop	0.809	-15122	downstream	2	rs45514102, rs1131190,
11:119061879-119084914	SAS	23.036	-15122	downstream	25	rs45514102, rs11311909, rs7945884, rs2301574, rs11217176, rs11217177, rs12575067, rs7105861, rs55771168, rs7932398, rs11217180, rs7104210, rs4938637, rs4938638, rs7108857, rs11217183, rs11217184, rs2155380, rs7107776, rs6589721, rs7482092, rs36109901, rs117820415, rs11217186, rs1079028,
11:119062059-119062401	AFR	0.343	-14942	downstream	2	rs111934806, rs14266860,
11:119062671-119062687	AMR	0.017	-14330	downstream	2	rs79482409, rs1131190,
11:119062889-119065760	AFR	2.872	-14112	downstream	7	rs7945884, rs59654050, rs2301574, rs76799613, rs11217176, rs11217177, rs1228467,
11:119062889-119081215	all_pop	18.327	-14112	downstream	20	rs7945884, rs2301574, rs11217175, rs12417928, rs11217176, rs11217177, rs12575067, rs7105861, rs55771168, rs7932398, rs11217180, rs7104210, rs4938637, rs4938638, rs7108857, rs11217183, rs11217184, rs2155380, rs7107776, rs658972,
11:119062889-119115878	AMR	52.99	-14112	downstream	70	rs7945884, rs2301574, rs11217175, rs12417928, rs11217176, rs11217177, rs12575067, rs7105861, rs55771168, rs7932398, rs11217180, rs7104210, rs4938638, rs7108857, rs11217183, rs11217184, rs2155380, rs7107776, rs6589721, rs7482092, rs36109901, rs117820415, rs11217186, rs10790287, rs73001395, rs6589722, rs4936467, rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893034, rs12273368, rs7111358, rs79047914, rs200583232, rs550380245, rs35094649, rs34840830, rs73003006, rs11217191, rs11217192, rs34092660, rs12277928, rs573139819, rs12786104, rs11217194, rs11217196, rs11217197, rs71470961, rs11217200, rs6589723, rs7113047, rs7107494, rs7482443, rs11217204, rs12286018, rs6589724, rs6589725, rs7120073, rs7104273, rs11217209, rs35760686, rs373743435, rs6589726, rs532837579, rs7300301,
11:119062889-119115878	EAS	52.99	-14112	downstream	69	rs7945884, rs2301574, rs12417928, rs11217176, rs11217177, rs12575067, rs7105861, rs55771168, rs7932398, rs11217180, rs7104210, rs4938637, rs4938638, rs7108857, rs11217183, rs11217184, rs2155380, rs7107776, rs6589721, rs7482092, rs36109901, rs117820415, rs11217186, rs10790287, rs6589722, rs4936467, rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893033, rs1893034, rs12273368, rs7111358, rs200583232, rs550380245, rs35094649, rs34840830, rs11217191, rs11217192, rs557808113, rs34092660, rs12277928, rs573139819, rs12786104, rs11217194, rs11217196, rs11217197, rs71470961, rs4938642, rs11217200, rs6589723, rs7113047, rs7107494, rs7482443, rs11217204, rs12286018, rs6589724, rs6589725, rs7120073, rs7104273, rs11217209, rs373743435, rs6589726, rs532837579, rs7300301,
11:119066433-119085783	AFR	19.351	-10568	downstream	39	rs140340782, rs73564501, rs10160343, rs139961017, rs7105861, rs55771168, rs112543707, rs7932398, rs11217180, rs148557958, rs7104210, rs11824391, rs140352089, rs146437518, rs116240887, rs4938638, rs79546026, rs7108857, rs186044021, rs11828701, rs11217183, rs11217184, rs113290882, rs79215346, rs2155380, rs7107776, rs60987157, rs58349744, rs6589721, rs73566715, rs7482092, rs11217185, rs148548329, rs36109901, rs11217186, rs201462035, rs11217187, rs10790287, rs658972,
11:119082706-119084914	all_pop	2.209	5705	upstream	6	rs7482092, rs11217185, rs36109901, rs117820415, rs11217186, rs1079028,
11:119085783-119086629	all_pop	0.847	8782	upstream	2	rs6589722, rs493646,
11:119085783-119089831	SAS	4.049	8782	upstream	13	rs6589722, rs4936467, rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893033, rs1893034, rs12273368, rs711135,
11:119086629-119092111	AFR	5.483	9628	upstream	21	rs4936467, rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893034, rs12273368, rs7111358, rs200583232, rs112917707, rs550380245, rs189608148, rs146998207, rs148920736, rs35094649, rs34840830, rs141599031, rs7356673,
11:119087049-119096126	all_pop	9.078	10048	upstream	23	rs151229611, rs4936468, rs7925499, rs11217188, rs11217189, rs1893032, rs11217190, rs1893033, rs1893034, rs12273368, rs7111358, rs200583232, rs112917707, rs550380245, rs146998207, rs148920736, rs35094649, rs34840830, rs141599031, rs11217191, rs11217192, rs34092660, rs1227792,
11:119090559-119094647	SAS	4.089	13558	upstream	4	rs550380245, rs35094649, rs34840830, rs1121719,
11:119094647-119095393	AFR	0.747	17646	upstream	3	rs11217191, rs28593061, rs14390930,
11:119095761-119096126	AFR	0.366	18760	upstream	3	rs11217192, rs34092660, rs1227792,
11:119095797-119096126	SAS	0.33	18796	upstream	2	rs34092660, rs1227792,
11:119096785-119115878	AFR	19.094	19784	upstream	33	rs12786104, rs59748250, rs57280253, rs11217194, rs59459766, rs77374978, rs11217196, rs11217197, rs71470961, rs73566740, rs150321676, rs112125855, rs11217201, rs73566744, rs11217202, rs6589723, rs7113047, rs7107494, rs7482443, rs12286018, rs78693512, rs6589724, rs6589725, rs57705508, rs7120073, rs7104273, rs11217208, rs373743435, rs6589726, rs532837579, rs73566752, rs73566753, rs7300301,
11:119096785-119115878	all_pop	19.094	19784	upstream	25	rs12786104, rs11217194, rs77374978, rs11217196, rs11217197, rs71470961, rs4938642, rs11217200, rs112125855, rs11217201, rs6589723, rs7113047, rs7107494, rs7482443, rs11217204, rs12286018, rs6589724, rs6589725, rs7120073, rs7104273, rs11217209, rs373743435, rs6589726, rs532837579, rs7300301,
11:119096785-119115878	SAS	19.094	19784	upstream	23	rs12786104, rs11217194, rs11217196, rs11217197, rs71470961, rs4938642, rs11217200, rs76124529, rs6589723, rs7113047, rs7107494, rs7482443, rs11217204, rs12286018, rs6589724, rs6589725, rs7120073, rs7104273, rs11217209, rs373743435, rs6589726, rs532837579, rs7300301,
11:119116296-119116603	EAS	0.308	39295	upstream	2	rs11217213, rs711417,
11:119116296-119116603	EUR	0.308	39295	upstream	2	rs11217213, rs711417,
11:119116296-119116603	SAS	0.308	39295	upstream	2	rs11217213, rs711417,
11:119116770-119123949	AFR	7.18	39769	upstream	15	rs7114456, rs7129276, rs111584689, rs7118221, rs6589727, rs4938643, rs80101108, rs140871704, rs7937454, rs11217215, rs11217216, rs7945293, rs11217217, rs111877154, rs1228702,
11:119116770-119123950	all_pop	7.181	39769	upstream	13	rs7114456, rs7129276, rs7118221, rs6589727, rs4938643, rs140871704, rs7937454, rs11217215, rs11217216, rs7945293, rs11217217, rs12287028, rs1121721,
11:119116770-119123950	AMR	7.181	39769	upstream	12	rs7114456, rs7129276, rs7118221, rs6589727, rs4938643, rs140871704, rs7937454, rs11217215, rs7945293, rs11217217, rs12287028, rs1121721,
11:119116770-119123950	EAS	7.181	39769	upstream	14	rs7114456, rs7129276, rs7118221, rs6589727, rs4938643, rs117420562, rs118147684, rs140871704, rs7937454, rs11217215, rs7945293, rs11217217, rs12287028, rs1121721,
11:119116770-119123950	EUR	7.181	39769	upstream	12	rs7114456, rs7129276, rs7118221, rs6589727, rs4938643, rs140871704, rs7937454, rs11217215, rs7945293, rs11217217, rs12287028, rs1121721,
11:119116770-119123950	SAS	7.181	39769	upstream	12	rs7114456, rs7129276, rs7118221, rs6589727, rs4938643, rs140871704, rs7937454, rs11217215, rs7945293, rs11217217, rs12287028, rs1121721,
11:119124160-119124416	AFR	0.257	47159	upstream	2	rs66912490, rs7356676,
11:119124723-119125603	all_pop	0.881	47722	upstream	3	rs11217220, rs11217222, rs6719684,
11:119124723-119125603	AMR	0.881	47722	upstream	2	rs11217220, rs6719684,
11:119124723-119148573	EAS	23.851	47722	upstream	22	rs11217220, rs67196842, rs56753854, rs10892341, rs12277078, rs12276986, rs68034047, rs10892342, rs397848132, rs7121752, rs151010037, rs7946919, rs2511857, rs71470964, rs2511856, rs721444, rs2276083, rs3842642, rs3794073, rs2511854, rs2510151, rs251015,
11:119124723-119127396	EUR	2.674	47722	upstream	5	rs11217220, rs67196842, rs73003083, rs187739426, rs5675385,
11:119125213-119126650	AFR	1.438	48212	upstream	3	rs11217222, rs67196842, rs1229593,

Conservation score was not calculated