MCID: MYH016
MIFTS: 37

Myh-Associated Polyposis

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myh-Associated Polyposis

MalaCards integrated aliases for Myh-Associated Polyposis:

Name: Myh-Associated Polyposis 52 29 6
Autosomal Recessive Familial Adenomatous Polyposis 52
Autosomal Recessive Multiple Colorectal Adenomas 52
Map Syndrome 52

Classifications:



Summaries for Myh-Associated Polyposis

NIH Rare Diseases : 52 MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer . This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene .

MalaCards based summary : Myh-Associated Polyposis, also known as autosomal recessive familial adenomatous polyposis, is related to familial adenomatous polyposis and familial adenomatous polyposis 2. An important gene associated with Myh-Associated Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include colon, testes and breast, and related phenotypes are homeostasis/metabolism and neoplasm

Related Diseases for Myh-Associated Polyposis

Diseases related to Myh-Associated Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 136, show less)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.9 MUTYH MSH2 KRAS HRAS APC
2 familial adenomatous polyposis 2 30.6 MUTYH GGT1
3 hyperplastic polyposis syndrome 30.4 MUTYH KRAS APC
4 jejunal cancer 30.2 MUTYH MSH2
5 colorectal cancer, hereditary nonpolyposis, type 6 30.2 MUTYH MSH2
6 muir-torre syndrome 30.2 MUTYH MSH2
7 desmoid tumor 30.1 MUTYH APC
8 attenuated familial adenomatous polyposis 30.1 MUTYH MSH2 APC
9 familial colorectal cancer 30.1 MUTYH MSH2 APC
10 adenoma 30.1 MUTYH MSH2 KRAS APC
11 mismatch repair cancer syndrome 29.9 MSH2 APC
12 colorectal cancer, hereditary nonpolyposis, type 5 29.7 MUTYH MSH2 APC
13 rectum adenocarcinoma 29.5 MSH2 KRAS HRAS
14 colorectal adenoma 29.3 MUTYH MSH2 KRAS HRAS APC
15 adenocarcinoma 29.2 MSH2 KRAS HRAS APC
16 lynch syndrome 29.0 MUTYH MSH2 KRAS HRAS APC
17 rectum cancer 28.6 MUTYH MSH2 KRAS HRAS APC
18 endometrial cancer 28.5 MUTYH MSH2 KRAS HRAS APC
19 pancreatic cancer 27.4 MSH2 KRAS HRAS GGT1 APC
20 mutyh polyposis 11.9
21 colorectal cancer 10.5
22 autosomal recessive disease 10.5
23 familial colorectal cancer type x 10.3
24 lynch syndrome i 10.2
25 pilomatrixoma 10.2
26 medulloblastoma 10.2
27 familial adenomatous polyposis 1 10.2
28 colorectal cancer, hereditary nonpolyposis, type 2 10.2
29 colorectal cancer, hereditary nonpolyposis, type 8 10.2
30 colorectal cancer, hereditary nonpolyposis, type 4 10.2
31 colorectal cancer, hereditary nonpolyposis, type 7 10.2
32 hereditary hemorrhagic telangiectasia 10.2
33 telangiectasis 10.2
34 brain cancer 10.2
35 skin benign neoplasm 10.2
36 immature teratoma of ovary 10.1 KRAS GGT1
37 signet ring basal cell carcinoma 10.1 KRAS HRAS
38 trachea carcinoma in situ 10.1 KRAS HRAS
39 cobblestone retinal degeneration 10.1 KRAS HRAS
40 nasal cavity adenocarcinoma 10.1 KRAS HRAS
41 descending colon cancer 10.1 KRAS HRAS
42 adenosquamous lung carcinoma 10.1 KRAS HRAS
43 acneiform dermatitis 10.1 KRAS HRAS
44 transverse colon cancer 10.1 KRAS HRAS
45 appendiceal neoplasm 10.1 KRAS HRAS
46 gallbladder benign neoplasm 10.1 KRAS HRAS
47 appendix adenocarcinoma 10.1 KRAS HRAS
48 mucinous lung adenocarcinoma 10.1 KRAS HRAS
49 wolffian duct adenocarcinoma 10.1 KRAS HRAS
50 biliary tract benign neoplasm 10.0 KRAS HRAS
51 tumor of exocrine pancreas 10.0 KRAS HRAS
52 pancreatic acinar cell adenocarcinoma 10.0 KRAS HRAS
53 duodenal benign neoplasm 10.0 HRAS APC
54 endosalpingiosis 10.0 KRAS HRAS
55 core binding factor acute myeloid leukemia 10.0 KRAS HRAS
56 lung carcinoma in situ 10.0 KRAS HRAS
57 appendix disease 10.0 KRAS HRAS
58 paronychia 10.0 KRAS HRAS
59 pulmonary adenocarcinoma in situ 10.0 KRAS HRAS
60 adenocarcinoma in situ 10.0 KRAS HRAS
61 papillary adenoma 10.0 KRAS HRAS
62 appendix cancer 10.0 KRAS HRAS
63 large intestine adenocarcinoma 10.0 KRAS HRAS
64 oculoectodermal syndrome 10.0 KRAS HRAS
65 myasthenic syndrome, congenital, 14 10.0 KRAS HRAS
66 lung non-squamous non-small cell carcinoma 10.0 KRAS HRAS
67 rectosigmoid cancer 10.0 KRAS HRAS
68 nasal cavity cancer 10.0 KRAS HRAS
69 skin papilloma 10.0 KRAS HRAS
70 anus cancer 9.9 KRAS HRAS
71 pulmonic stenosis 9.9 KRAS HRAS
72 sebaceous gland neoplasm 9.9 MUTYH MSH2
73 sebaceous adenoma 9.9 MUTYH MSH2
74 ras-associated autoimmune leukoproliferative disorder 9.9 KRAS HRAS
75 respiratory system benign neoplasm 9.9 KRAS HRAS
76 mixed cell type cancer 9.9 KRAS HRAS
77 rasopathy 9.9 KRAS HRAS
78 endometrioid ovary carcinoma 9.9 MSH2 KRAS
79 lung adenoma 9.9 KRAS HRAS
80 small intestine adenocarcinoma 9.9 MSH2 KRAS
81 b-lymphoblastic leukemia/lymphoma 9.8 MSH2 APC
82 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 9.8 MSH2 APC
83 schimmelpenning-feuerstein-mims syndrome 9.8 KRAS HRAS
84 thyroid tumor 9.8 KRAS HRAS
85 hereditary mixed polyposis syndrome 9.8 MUTYH MSH2
86 ovarian cystadenocarcinoma 9.8 KRAS HRAS
87 ampulla of vater neoplasm 9.8 KRAS HRAS APC
88 periampullary adenoma 9.8 KRAS HRAS APC
89 villous adenoma 9.7 KRAS HRAS APC
90 ectomesenchymoma 9.7 MSH2 HRAS
91 cardiovascular organ benign neoplasm 9.7 KRAS HRAS APC
92 ovary epithelial cancer 9.7 KRAS HRAS APC
93 malignant ovarian surface epithelial-stromal neoplasm 9.7 KRAS HRAS APC
94 cholangiocarcinoma 9.7 KRAS GGT1 APC
95 uterine benign neoplasm 9.7 KRAS HRAS
96 bile duct cysts 9.7 KRAS HRAS GGT1
97 melanocytic nevus syndrome, congenital 9.7 MSH2 HRAS
98 bile duct disease 9.7 KRAS HRAS GGT1
99 gallbladder disease 9.7 KRAS HRAS GGT1
100 biliary tract disease 9.7 KRAS HRAS GGT1
101 legius syndrome 9.7 MSH2 HRAS
102 polyposis syndrome, hereditary mixed, 1 9.6 MUTYH MSH2 APC
103 colonic disease 9.6 KRAS HRAS APC
104 juvenile polyposis syndrome 9.6 MUTYH MSH2 APC
105 endocrine system disease 9.6 KRAS HRAS APC
106 reproductive organ benign neoplasm 9.6 KRAS HRAS
107 intestinal disease 9.6 KRAS HRAS APC
108 pancreatitis 9.6 KRAS HRAS GGT1
109 thyroid gland cancer 9.5 KRAS HRAS APC
110 cell type benign neoplasm 9.5 MUTYH KRAS HRAS APC
111 cowden syndrome 9.5 MUTYH MSH2 HRAS
112 ascending colon cancer 9.5 MSH2 KRAS HRAS
113 duodenum adenocarcinoma 9.5 MSH2 KRAS HRAS
114 female reproductive endometrioid cancer 9.5 MSH2 KRAS HRAS
115 uterine body mixed cancer 9.5 MSH2 KRAS HRAS
116 cecum carcinoma 9.5 MSH2 KRAS HRAS
117 signet ring cell adenocarcinoma 9.5 MSH2 KRAS HRAS
118 uterine corpus cancer 9.5 MSH2 KRAS HRAS
119 neurofibromatosis 9.4 MSH2 KRAS HRAS
120 uterine carcinosarcoma 9.4 MSH2 KRAS HRAS
121 feingold syndrome 1 9.4
122 microcephaly 9.4
123 duodenum cancer 9.2 MUTYH MSH2 KRAS HRAS
124 duodenum disease 9.2 MUTYH MSH2 KRAS HRAS
125 small intestine cancer 9.2 MUTYH MSH2 KRAS HRAS
126 hereditary breast ovarian cancer syndrome 9.2 MUTYH MSH2 KRAS HRAS
127 li-fraumeni syndrome 9.2 MUTYH MSH2 KRAS HRAS
128 colonic benign neoplasm 9.1 MSH2 KRAS HRAS APC
129 lymphangioma 9.1 MSH2 KRAS HRAS APC
130 colorectal adenocarcinoma 9.1 MSH2 KRAS HRAS APC
131 sarcoma 9.1 MSH2 KRAS HRAS APC
132 leukemia, acute lymphoblastic 9.1 MSH2 KRAS HRAS APC
133 intestinal benign neoplasm 8.9 MUTYH MSH2 KRAS HRAS APC
134 gastrointestinal system benign neoplasm 8.9 MUTYH MSH2 KRAS HRAS APC
135 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 8.8 MUTYH MSH2 HRAS GGT1 APC
136 autosomal genetic disease 8.8 MUTYH MSH2 HRAS GGT1 APC

Graphical network of the top 20 diseases related to Myh-Associated Polyposis:



Diseases related to Myh-Associated Polyposis

Symptoms & Phenotypes for Myh-Associated Polyposis

MGI Mouse Phenotypes related to Myh-Associated Polyposis:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 APC GGT1 HRAS KRAS MSH2 MUTYH
2 neoplasm MP:0002006 9.35 APC HRAS KRAS MSH2 MUTYH
3 renal/urinary system MP:0005367 9.02 APC GGT1 HRAS KRAS MYH1

Drugs & Therapeutics for Myh-Associated Polyposis

Search Clinical Trials , NIH Clinical Center for Myh-Associated Polyposis

Genetic Tests for Myh-Associated Polyposis

Genetic tests related to Myh-Associated Polyposis:

# Genetic test Affiliating Genes
1 Myh-Associated Polyposis 29 MUTYH

Anatomical Context for Myh-Associated Polyposis

MalaCards organs/tissues related to Myh-Associated Polyposis:

40
Colon, Testes, Breast

Publications for Myh-Associated Polyposis

Articles related to Myh-Associated Polyposis:

(showing 74, show less)
# Title Authors PMID Year
1
Video Vignette: Laparoscopic pan-proctocolectomy with intersphincteric dissection and transanal TME for a mid-rectal cancer and MYH-associated polyposis. 61
32531103 2020
2
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. 61
31739127 2020
3
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy. 61
30564557 2018
4
Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series. 61
28283864 2017
5
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 61
28551381 2017
6
Adenomatous Polyposis Syndromes: Diagnosis and Management. 61
31777463 2016
7
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 61
27145315 2016
8
Cap-assisted endoscopic mucosal resection of large nonampullary duodenal polyps in MYH-associated polyposis syndrome. 61
26551731 2016
9
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 61
24953332 2014
10
MYH polyposis syndrome: clinical findings, genetics issues and management. 61
24643704 2014
11
Managing young colorectal cancer: a UK and Irish perspective. 61
24510247 2014
12
Results from an American Society of Colon and Rectal Surgeons survey on the management of young-onset colorectal cancer. 61
23893218 2014
13
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 61
24310308 2014
14
Mammalian MutY homolog (MYH or MUTYH) protects cells from oxidative DNA damage. 61
24315136 2014
15
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis. 61
22711856 2012
16
The first mutations in the MYH gene reported in Moroccan colon cancer patients. 61
22266422 2012
17
General aspects of colorectal cancer. 61
23209942 2012
18
Inherited colorectal cancer syndromes. 61
22157284 2011
19
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. 61
21424714 2011
20
Lynch syndrome and MYH-associated polyposis: review and testing strategy. 61
21325953 2011
21
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. 61
20939750 2011
22
Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections. 61
21505584 2011
23
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions. 61
20640893 2010
24
[Differential diagnostics of hereditary colorectal cancer syndromes. The role of pathology]. 61
20960194 2010
25
A structural hinge in eukaryotic MutY homologues mediates catalytic activity and Rad9-Rad1-Hus1 checkpoint complex interactions. 61
20816984 2010
26
Identifying mutations for MYH-associated polyposis. 61
20063264 2010
27
Inherited colorectal cancer syndromes. 61
21037810 2009
28
[Cancer genetics: estimation of the needs of the population in France for the next ten years]. 61
19751997 2009
29
APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. 61
19169759 2009
30
Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. 61
19404084 2009
31
MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer. 61
20110747 2009
32
Familial adenomatous polyposis. 61
19414146 2009
33
Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. 61
19258188 2009
34
Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. 61
19013464 2008
35
MYH-associated polyposis: adenomas and hyperplastic polyps, partners in crime? 61
19000687 2008
36
MYH-associated polyposis--a new familial colorectal cancer syndrome without a family history. 61
19098972 2008
37
[Hereditary colorectal cancer]. 61
18853126 2008
38
Colonic adenomatous polyposis syndromes: clinical management. 61
20011436 2008
39
The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. 61
18495334 2008
40
Pathological features of colorectal carcinomas in MYH-associated polyposis. 61
18564191 2008
41
Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. 61
17874208 2008
42
Colorectal polyposes: from phenotype to diagnosis. 61
18541388 2008
43
Recently identified colon cancer predispositions: MYH and MSH6 mutations. 61
17920897 2007
44
Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. 61
17703316 2007
45
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients. 61
17524638 2007
46
Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. 61
17505512 2007
47
BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. 61
17273161 2007
48
[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]. 61
17868535 2007
49
Colonic polyps in children and adolescents. 61
17431512 2007
50
Hereditary colorectal cancer syndromes: an overview. 61
17311698 2007
51
Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer. 61
18022921 2007
52
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 61
17949294 2007
53
Prevention of colorectal cancer in high-risk populations: the increasing role for endoscopy and chemoprevention in FAP and HNPCC. 61
17947820 2007
54
Can we identify the high-risk patients to be screened? A genetic approach. 61
17947814 2007
55
The patient with multiple intestinal polyps. 61
17544108 2007
56
Increased frequency of disease-causing MYH mutations in colon cancer families. 61
16774938 2006
57
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 61
16890597 2006
58
Genetic predisposition to colorectal cancer: new pieces in the pediatric puzzle. 61
16819371 2006
59
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. 61
16616356 2006
60
Chromosomal instability in MYH- and APC-mutant adenomatous polyps. 61
16510566 2006
61
Familial adenomatous polyposis. 61
16454848 2006
62
[Genetic mechanisms in the hereditary predisposition to colorectal cancer]. 61
16670730 2006
63
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. 61
16207212 2005
64
Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families. 61
15788729 2005
65
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 61
16140997 2005
66
Inherited colorectal cancer syndromes. 61
20011298 2005
67
Is prophylactic colectomy indicated in patients with MYH-associated polyposis? 61
15932553 2005
68
A kindred with MYH-associated polyposis and pilomatricomas. 61
15690400 2005
69
Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. 61
15604247 2004
70
The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. 61
15290654 2004
71
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 61
15236166 2004
72
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. 61
14999774 2004
73
Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. 61
14633673 2003
74
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. 61
12707038 2003

Variations for Myh-Associated Polyposis

ClinVar genetic disease variations for Myh-Associated Polyposis:

6 (showing 824, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dupduplication Pathogenic 406838 rs1553129652 1:45798824-45798825 1:45333152-45333153
2 MUTYH NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter)SNV Pathogenic 406822 rs745921592 1:45798350-45798350 1:45332678-45332678
3 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter)SNV Pathogenic 406823 rs1060501321 1:45797148-45797148 1:45331476-45331476
4 MUTYH NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter)SNV Pathogenic 406824 rs766420907 1:45797175-45797175 1:45331503-45331503
5 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter)SNV Pathogenic 406830 rs1060501325 1:45797134-45797134 1:45331462-45331462
6 MUTYH NM_001293192.1(MUTYH):c.-153deldeletion Pathogenic 406847 rs1060501336 1:45800118-45800118 1:45334446-45334446
7 MUTYH NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT (p.Val236fs)indel Pathogenic 418342 rs1064793197 1:45798130-45798135 1:45332458-45332463
8 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)deldeletion Pathogenic 437842 1:45794978-45798996 1:45329306-45333324
9 MUTYH NM_012222.2(MUTYH):c.1347del (p.Tyr450fs)deletion Pathogenic 464690 rs1553125243 1:45796974-45796974 1:45331302-45331302
10 MUTYH NM_001128425.1(MUTYH):c.37-1317_667deldeletion Pathogenic 464717 1:45798269-45801500 1:45332597-45335828
11 MUTYH NM_001350650.1(MUTYH):c.33+147deldeletion Pathogenic 464719 rs1553129638 1:45798810-45798810 1:45333138-45333138
12 MUTYH NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter)SNV Pathogenic 485909 rs1553130185 1:45799125-45799125 1:45333453-45333453
13 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)deldeletion Pathogenic 533332 1:45798240-45800189 1:45332568-45334517
14 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)deldeletion Pathogenic 533333 1:45794972-45799281 1:45329300-45333609
15 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs)deletion Pathogenic 533319 rs1553126848 1:45797473-45797495 1:45331801-45331823
16 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs)indel Pathogenic 533305 rs1553127825 1:45797962-45797962 1:45332290-45332290
17 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs)deletion Pathogenic 533306 rs1553125677 1:45797126-45797135 1:45331454-45331463
18 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter)SNV Pathogenic 569689 rs558173961 1:45797721-45797721 1:45332049-45332049
19 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter)SNV Pathogenic 565890 rs1338038953 1:45797982-45797982 1:45332310-45332310
20 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter)SNV Pathogenic 582666 rs1557487793 1:45799255-45799255 1:45333583-45333583
21 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln)indel Pathogenic 587356 rs1557451154 1:45796189-45796196 1:45330517-45330524
22 MUTYH NM_001128425.1(MUTYH):c.1264C>T (p.Gln422Ter)SNV Pathogenic 654529 1:45797151-45797151 1:45331479-45331479
23 MUTYH NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)deletion Pathogenic 663501 1:45797197-45797197 1:45331525-45331525
24 MUTYH NM_001128425.1(MUTYH):c.788G>A (p.Trp263Ter)SNV Pathogenic 641274 1:45798063-45798063 1:45332391-45332391
25 MUTYH NM_012222.2(MUTYH):c.624_651del (p.Leu209fs)deletion Pathogenic 662131 1:45798276-45798303 1:45332604-45332631
26 MUTYH NM_001048174.2(MUTYH):c.192dup (p.Val65fs)duplication Pathogenic 657663 1:45799156-45799157 1:45333484-45333485
27 MUTYH NM_001128425.1(MUTYH):c.43A>G (p.Met15Val)SNV Pathogenic 641313 1:45800177-45800177 1:45334505-45334505
28 MUTYH NC_000001.11:g.(?_45329296)_(45333334_?)deldeletion Pathogenic 639376 1:45794968-45799006 1:45329296-45333334
29 MUTYH NM_001128425.1(MUTYH):c.37-95_84delinsCindel Pathogenic 648550 1:45800136-45800278 1:45334464-45334606
30 MUTYH NC_000001.11:g.(?_45329306)_(45333334_?)deldeletion Pathogenic 832371 1:45794978-45799006
31 MUTYH NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)SNV Pathogenic 859310 1:45799181-45799181 1:45333509-45333509
32 MUTYH NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)deletion Pathogenic 854670 1:45800085-45800088 1:45334413-45334416
33 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs)deletion Pathogenic 5295 rs146331482 1:45796869-45796869 1:45331197-45331197
34 MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter)SNV Pathogenic 5296 rs121908380 1:45799121-45799121 1:45333449-45333449
35 MUTYH NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)SNV Pathogenic 5297 rs121908381 1:45796892-45796892 1:45331220-45331220
36 MUTYH MUTYH, 2-BP INS, 1186GGinsertion Pathogenic 5300
37 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTAindel Pathogenic 30441 1:45794768-45799052 1:45329096-45333380
38 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)SNV Pathogenic 41041 rs200844166 1:45796912-45796912 1:45331240-45331240
39 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter)SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
40 MUTYH NM_001048173.1(MUTYH):c.1350_1352GGA[1] (p.Glu452del)short repeat Pathogenic 127838 rs587778541 1:45796891-45796893 1:45331219-45331221
41 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter)SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
42 MUTYH NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter)SNV Pathogenic 140876 rs587781338 1:45797752-45797752 1:45332080-45332080
43 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter)SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
44 MUTYH NM_001293192.1(MUTYH):c.-164deldeletion Pathogenic 141379 rs587781704 1:45800129-45800129 1:45334457-45334457
45 MUTYH NM_001048171.1(MUTYH):c.1172C>T (p.Pro391Leu)SNV Pathogenic 142604 rs529008617 1:45797201-45797201 1:45331529-45331529
46 MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter)SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440
47 MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676
48 MUTYH NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)SNV Pathogenic 182689 rs143353451 1:45798466-45798466 1:45332794-45332794
49 MUTYH NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter)SNV Pathogenic 186651 rs786203115 1:45797972-45797972 1:45332300-45332300
50 MUTYH NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter)SNV Pathogenic 216081 rs863224502 1:45796856-45796856 1:45331184-45331184
51 MUTYH NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter)SNV Pathogenic 233460 rs376561094 1:45798308-45798308 1:45332636-45332636
52 MUTYH NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter)SNV Pathogenic 234000 rs876660787 1:45798631-45798631 1:45332959-45332959
53 MUTYH NM_001293192.1(MUTYH):c.-28dupduplication Pathogenic 238345 rs878854189 1:45799099-45799100 1:45333427-45333428
54 MUTYH NM_001128425.1(MUTYH):c.526_535del (p.Gly176fs)deletion Pathogenic/Likely pathogenic 371677 rs1057517457 1:45798476-45798485 1:45332804-45332813
55 MUTYH NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser)SNV Pathogenic/Likely pathogenic 372416 rs1057517765 1:45798138-45798138 1:45332466-45332466
56 MUTYH NM_001128425.1(MUTYH):c.463-1G>ASNV Pathogenic/Likely pathogenic 379599 rs1057520660 1:45798632-45798632 1:45332960-45332960
57 MUTYH NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp)duplication Pathogenic/Likely pathogenic 233094 rs876660190 1:45798772-45798773 1:45333100-45333101
58 MUTYH NM_001048174.2(MUTYH):c.305-1G>CSNV Pathogenic/Likely pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
59 MUTYH NM_001128425.1(MUTYH):c.847A>G (p.Met283Val)SNV Pathogenic/Likely pathogenic 232291 rs876659676 1:45797924-45797924 1:45332252-45332252
60 MUTYH NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter)SNV Pathogenic/Likely pathogenic 238337 rs376790729 1:45796895-45796895 1:45331223-45331223
61 MUTYH NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter)SNV Pathogenic/Likely pathogenic 230971 rs762307622 1:45798627-45798627 1:45332955-45332955
62 MUTYH NM_001128425.1(MUTYH):c.389-1G>ASNV Pathogenic/Likely pathogenic 186819 rs372267274 1:45798843-45798843 1:45333171-45333171
63 MUTYH NM_001048171.1(MUTYH):c.502C>T (p.Arg168Cys)SNV Pathogenic/Likely pathogenic 187280 rs747993448 1:45798467-45798467 1:45332795-45332795
64 MUTYH NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)SNV Pathogenic/Likely pathogenic 183896 rs765123255 1:45799108-45799108 1:45333436-45333436
65 MUTYH NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe)SNV Pathogenic/Likely pathogenic 219953 rs587782228 1:45796229-45796229 1:45330557-45330557
66 MUTYH NM_001048171.1(MUTYH):c.842C>T (p.Pro281Leu)SNV Pathogenic/Likely pathogenic 185242 rs374950566 1:45797887-45797887 1:45332215-45332215
67 MUTYH NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)SNV Pathogenic/Likely pathogenic 185274 rs34126013 1:45798130-45798130 1:45332458-45332458
68 MUTYH NM_001128425.1(MUTYH):c.1186+1G>ASNV Pathogenic/Likely pathogenic 140874 rs587781337 1:45797332-45797332 1:45331660-45331660
69 MUTYH NM_012222.2(MUTYH):c.1092dup (p.Arg365fs)duplication Pathogenic/Likely pathogenic 185770 rs768130289 1:45797417-45797418 1:45331745-45331746
70 MUTYH NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg)SNV Pathogenic/Likely pathogenic 182688 rs730881832 1:45798840-45798840 1:45333168-45333168
71 MUTYH NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu)SNV Pathogenic/Likely pathogenic 182691 rs730881833 1:45797914-45797914 1:45332242-45332242
72 MUTYH NM_001048174.2(MUTYH):c.1103-2A>GSNV Pathogenic/Likely pathogenic 141282 rs587781628 1:45797230-45797230 1:45331558-45331558
73 MUTYH NM_001048171.1(MUTYH):c.692G>A (p.Arg231His)SNV Pathogenic/Likely pathogenic 140877 rs140342925 1:45798117-45798117 1:45332445-45332445
74 MUTYH NM_012222.2(MUTYH):c.1138del (p.Ala382fs)deletion Pathogenic/Likely pathogenic 134860 rs587778536 1:45797372-45797372 1:45331700-45331700
75 MUTYH NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter)SNV Pathogenic/Likely pathogenic 140811 rs587781295 1:45798838-45798838 1:45333166-45333166
76 MUTYH NM_012222.2(MUTYH):c.1218_1219dup (p.Glu407fs)duplication Pathogenic/Likely pathogenic 127831 rs587780078 1:45797186-45797187 1:45331514-45331515
77 MUTYH NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 41761 rs200495564 1:45798118-45798118 1:45332446-45332446
78 MUTYH NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)SNV Pathogenic/Likely pathogenic 5293 rs34612342 1:45798475-45798475 1:45332803-45332803
79 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)SNV Pathogenic/Likely pathogenic 5294 rs36053993 1:45797228-45797228 1:45331556-45331556
80 MUTYH NM_001048171.1(MUTYH):c.517C>T (p.Gln173Ter)SNV Pathogenic/Likely pathogenic 554017 rs1553128813 1:45798452-45798452 1:45332780-45332780
81 MUTYH NM_001048171.1(MUTYH):c.85C>T (p.Gln29Ter)SNV Pathogenic/Likely pathogenic 555262 rs768386527 1:45800135-45800135 1:45334463-45334463
82 MUTYH NM_001048171.1(MUTYH):c.310G>T (p.Glu104Ter)SNV Pathogenic/Likely pathogenic 487453 rs1553129892 1:45798993-45798993 1:45333321-45333321
83 MUTYH NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter)SNV Pathogenic/Likely pathogenic 485907 rs370124822 1:45799185-45799185 1:45333513-45333513
84 MUTYH NM_012222.2(MUTYH):c.850del (p.Ala284fs)deletion Pathogenic/Likely pathogenic 433934 rs761468459 1:45797912-45797912 1:45332240-45332240
85 MUTYH NM_001128425.1(MUTYH):c.200del (p.Gly67fs)deletion Pathogenic/Likely pathogenic 419735 rs746449748 1:45799233-45799233 1:45333561-45333561
86 MUTYH NM_012222.2(MUTYH):c.1312del (p.Glu438fs)deletion Pathogenic/Likely pathogenic 421975 rs1064795480 1:45797094-45797094 1:45331422-45331422
87 MUTYH NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter)SNV Pathogenic/Likely pathogenic 423786 rs1064796630 1:45798248-45798248 1:45332576-45332576
88 MUTYH NM_001128425.1(MUTYH):c.504+19_504+31deldeletion Pathogenic/Likely pathogenic 406825 rs781222233 1:45798559-45798571 1:45332887-45332899
89 MUTYH NM_001048171.1(MUTYH):c.1005G>A (p.Trp335Ter)SNV Pathogenic/Likely pathogenic 406829 rs1060501324 1:45797472-45797472 1:45331800-45331800
90 MUTYH NM_001128425.1(MUTYH):c.933+2T>GSNV Likely pathogenic 406842 rs1060501333 1:45797836-45797836 1:45332164-45332164
91 MUTYH NM_001128425.1(MUTYH):c.463-1G>CSNV Likely pathogenic 406853 rs1057520660 1:45798632-45798632 1:45332960-45332960
92 MUTYH NM_012222.2(MUTYH):c.1091_1092del (p.Pro364fs)deletion Likely pathogenic 406858 rs768130289 1:45797418-45797419 1:45331746-45331747
93 MUTYH NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln)SNV Likely pathogenic 406867 rs1060501346 1:45798129-45798129 1:45332457-45332457
94 MUTYH NM_012222.2(MUTYH):c.1540_1541dup (p.Ser515fs)duplication Likely pathogenic 406826 rs1553123017 1:45795077-45795078 1:45329405-45329406
95 MUTYH NM_012222.2(MUTYH):c.1220_1221dup (p.Pro408fs)duplication Likely pathogenic 417906 rs1553125914 1:45797184-45797185 1:45331512-45331513
96 MUTYH NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp)SNV Likely pathogenic 449417 rs769237459 1:45797951-45797951 1:45332279-45332279
97 MUTYH NC_000001.11:g.(?_45329300)_(45330563_?)deldeletion Likely pathogenic 464672 1:45794972-45796235 1:45329300-45330563
98 MUTYH NM_001128425.1(MUTYH):c.690G>A (p.Gln230=)SNV Likely pathogenic 481804 rs199989617 1:45798246-45798246 1:45332574-45332574
99 MUTYH NM_001128425.1(MUTYH):c.577-2A>GSNV Likely pathogenic 483898 rs1553128663 1:45798361-45798361 1:45332689-45332689
100 MUTYH NC_000001.10:g.(?_45800057)_(45800189_?)dupduplication Likely pathogenic 533334 1:45800057-45800189 1:45334385-45334517
101 MUTYH NM_012222.2(MUTYH):c.1386dup (p.Val463fs)duplication Likely pathogenic 557720 rs1553125100 1:45796934-45796935 1:45331262-45331263
102 MUTYH NM_012222.2(MUTYH):c.1258_1260delinsC (p.Glu420fs)indel Likely pathogenic 552265 rs1553125766 1:45797146-45797148 1:45331474-45331476
103 MUTYH NM_001128425.1(MUTYH):c.332T>C (p.Leu111Pro)SNV Likely pathogenic 577118 rs1557485553 1:45799101-45799101 1:45333429-45333429
104 MUTYH NM_001128425.1(MUTYH):c.691-1G>ASNV Likely pathogenic 581889 rs1557474906 1:45798161-45798161 1:45332489-45332489
105 MUTYH NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly)SNV Likely pathogenic 849076 1:45799108-45799108 1:45333436-45333436
106 MUTYH NM_001048174.2(MUTYH):c.1102+2T>CSNV Likely pathogenic 839049 1:45797331-45797331 1:45331659-45331659
107 MUTYH NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser)SNV Likely pathogenic 862299 1:45798063-45798063 1:45332391-45332391
108 MUTYH NM_012222.2(MUTYH):c.1468-2_1468-1deldeletion Likely pathogenic 660585 1:45796230-45796231 1:45330558-45330559
109 MUTYH NM_001128425.1(MUTYH):c.348+1G>ASNV Likely pathogenic 646649 1:45799084-45799084 1:45333412-45333412
110 MUTYH NM_001048174.2(MUTYH):c.421-2A>GSNV Likely pathogenic 801479 1:45798508-45798508 1:45332836-45332836
111 MUTYH NM_001128425.1(MUTYH):c.504+2T>CSNV Likely pathogenic 142805 rs587782730 1:45798588-45798588 1:45332916-45332916
112 MUTYH NM_001128425.1(MUTYH):c.504+2T>GSNV Likely pathogenic 215995 rs587782730 1:45798588-45798588 1:45332916-45332916
113 MUTYH NM_001128425.1(MUTYH):c.389-2A>GSNV Likely pathogenic 215998 rs863224452 1:45798844-45798844 1:45333172-45333172
114 MUTYH NM_001048174.2(MUTYH):c.421-2A>CSNV Likely pathogenic 186709 rs786203161 1:45798508-45798508 1:45332836-45332836
115 MUTYH NM_001128425.1(MUTYH):c.690+1G>TSNV Likely pathogenic 238352 rs878854193 1:45798245-45798245 1:45332573-45332573
116 MUTYH NM_012222.2(MUTYH):c.1543del (p.Ser515fs)deletion Likely pathogenic 238341 rs878854186 1:45795076-45795076 1:45329404-45329404
117 MUTYH NM_001048171.1(MUTYH):c.1435-1G>ASNV Likely pathogenic 371681 rs1057517459 1:45796230-45796230 1:45330558-45330558
118 MUTYH NM_012222.2(MUTYH):c.1069del (p.Arg357fs)deletion Likely pathogenic 371676 rs1057517456 1:45797441-45797441 1:45331769-45331769
119 MUTYH NM_001048171.1(MUTYH):c.1435-11T>GSNV Conflicting interpretations of pathogenicity 297468 rs868701952 1:45796240-45796240 1:45330568-45330568
120 MUTYH NM_001048171.1(MUTYH):c.347-13C>GSNV Conflicting interpretations of pathogenicity 297470 rs201207780 1:45798855-45798855 1:45333183-45333183
121 MUTYH NM_001048171.1(MUTYH):c.37-14T>ASNV Conflicting interpretations of pathogenicity 297472 rs587781284 1:45800197-45800197 1:45334525-45334525
122 MUTYH NM_001048171.1(MUTYH):c.648+14C>GSNV Conflicting interpretations of pathogenicity 371678 rs752537118 1:45798232-45798232 1:45332560-45332560
123 MUTYH NM_001128425.1(MUTYH):c.389-6C>TSNV Conflicting interpretations of pathogenicity 383957 rs376600220 1:45798848-45798848 1:45333176-45333176
124 MUTYH NM_012222.2(MUTYH):c.633C>T (p.Gly211=)SNV Conflicting interpretations of pathogenicity 392475 rs1057524506 1:45798294-45798294 1:45332622-45332622
125 MUTYH NM_001128425.1(MUTYH):c.141G>A (p.Lys47=)SNV Conflicting interpretations of pathogenicity 230617 rs375084663 1:45800079-45800079 1:45334407-45334407
126 MUTYH NM_001128425.1(MUTYH):c.505-5C>TSNV Conflicting interpretations of pathogenicity 238347 rs878854191 1:45798511-45798511 1:45332839-45332839
127 MUTYH NM_001128425.1(MUTYH):c.158-4A>GSNV Conflicting interpretations of pathogenicity 238342 rs748362676 1:45799279-45799279 1:45333607-45333607
128 MUTYH NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr)SNV Conflicting interpretations of pathogenicity 246433 rs879254257 1:45797881-45797881 1:45332209-45332209
129 MUTYH NM_001128425.1(MUTYH):c.390G>A (p.Val130=)SNV Conflicting interpretations of pathogenicity 246266 rs774780021 1:45798841-45798841 1:45333169-45333169
130 MUTYH NM_001128425.1(MUTYH):c.881G>A (p.Arg294His)SNV Conflicting interpretations of pathogenicity 230487 rs146044717 1:45797890-45797890 1:45332218-45332218
131 MUTYH NM_001128425.1(MUTYH):c.161G>A (p.Cys54Tyr)SNV Conflicting interpretations of pathogenicity 219610 rs560905645 1:45799272-45799272 1:45333600-45333600
132 MUTYH NM_001128425.1(MUTYH):c.961G>A (p.Gly321Arg)SNV Conflicting interpretations of pathogenicity 230146 rs765686051 1:45797731-45797731 1:45332059-45332059
133 MUTYH NM_001128425.1(MUTYH):c.389-4C>ASNV Conflicting interpretations of pathogenicity 234180 rs767717597 1:45798846-45798846 1:45333174-45333174
134 MUTYH NM_001048171.1(MUTYH):c.534G>A (p.Lys178=)SNV Conflicting interpretations of pathogenicity 232945 rs876660092 1:45798435-45798435 1:45332763-45332763
135 MUTYH NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu)SNV Conflicting interpretations of pathogenicity 185653 rs777184451 1:45798624-45798624 1:45332952-45332952
136 MUTYH NM_001128425.1(MUTYH):c.643G>A (p.Val215Met)SNV Conflicting interpretations of pathogenicity 184952 rs776487884 1:45798293-45798293 1:45332621-45332621
137 MUTYH NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter)SNV Conflicting interpretations of pathogenicity 184976 rs748170941 1:45799124-45799124 1:45333452-45333452
138 MUTYH NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)SNV Conflicting interpretations of pathogenicity 185512 rs755653922 1:45799143-45799143 1:45333471-45333471
139 MUTYH NM_001293192.1(MUTYH):c.-3deldeletion Conflicting interpretations of pathogenicity 186778 rs786203213 1:45798987-45798987 1:45333315-45333315
140 MUTYH NM_001048171.1(MUTYH):c.158-8C>TSNV Conflicting interpretations of pathogenicity 186772 rs760321509 1:45799241-45799241 1:45333569-45333569
141 MUTYH NM_012222.2(MUTYH):c.129C>T (p.Asn43=)SNV Conflicting interpretations of pathogenicity 183816 rs141679570 1:45800091-45800091 1:45334419-45334419
142 MUTYH NM_001128425.1(MUTYH):c.1214_1224del (p.Pro405fs)deletion Conflicting interpretations of pathogenicity 216080 rs863224501 1:45797191-45797201 1:45331519-45331529
143 MUTYH NM_001048171.1(MUTYH):c.347-7C>ASNV Conflicting interpretations of pathogenicity 216521 rs863224698 1:45798849-45798849 1:45333177-45333177
144 MUTYH NM_001128425.1(MUTYH):c.936G>A (p.Val312=)SNV Conflicting interpretations of pathogenicity 216524 rs751875215 1:45797756-45797756 1:45332084-45332084
145 MUTYH NM_001048171.1(MUTYH):c.37-7G>ASNV Conflicting interpretations of pathogenicity 215797 rs780029247 1:45800190-45800190 1:45334518-45334518
146 MUTYH NM_001128425.1(MUTYH):c.997+3G>ASNV Conflicting interpretations of pathogenicity 220137 rs864622394 1:45797692-45797692 1:45332020-45332020
147 MUTYH NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val)SNV Conflicting interpretations of pathogenicity 220270 rs864622450 1:45798830-45798830 1:45333158-45333158
148 MUTYH NM_001128425.1(MUTYH):c.1555C>A (p.Arg519=)SNV Conflicting interpretations of pathogenicity 230406 rs754364718 1:45795073-45795073 1:45329401-45329401
149 MUTYH NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)SNV Conflicting interpretations of pathogenicity 141933 rs587782120 1:45797105-45797105 1:45331433-45331433
150 MUTYH NM_001048171.1(MUTYH):c.771C>T (p.Asp257=)SNV Conflicting interpretations of pathogenicity 182699 rs730881838 1:45797958-45797958 1:45332286-45332286
151 MUTYH NM_001128425.1(MUTYH):c.719C>T (p.Ala240Val)SNV Conflicting interpretations of pathogenicity 182690 rs369120013 1:45798132-45798132 1:45332460-45332460
152 MUTYH NM_001128425.1(MUTYH):c.918C>G (p.Cys306Trp)SNV Conflicting interpretations of pathogenicity 182693 rs730881834 1:45797853-45797853 1:45332181-45332181
153 MUTYH NM_001048171.1(MUTYH):c.929C>T (p.Ser310Leu)SNV Conflicting interpretations of pathogenicity 182695 rs558173961 1:45797721-45797721 1:45332049-45332049
154 MUTYH NM_025077.4(TOE1):c.-54G>TSNV Conflicting interpretations of pathogenicity 182687 rs540793556 1:45805871-45805871 1:45340199-45340199
155 MUTYH NM_001128425.1(MUTYH):c.1600C>A (p.Arg534=)SNV Conflicting interpretations of pathogenicity 184712 rs144616312 1:45795028-45795028 1:45329356-45329356
156 MUTYH NM_001128425.1(MUTYH):c.1567C>T (p.Arg523Cys)SNV Conflicting interpretations of pathogenicity 185573 rs147480076 1:45795061-45795061 1:45329389-45329389
157 MUTYH NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=)SNV Conflicting interpretations of pathogenicity 184566 rs143796254 1:45795080-45795080 1:45329408-45329408
158 MUTYH NM_001048171.1(MUTYH):c.1434+2C>TSNV Conflicting interpretations of pathogenicity 187040 rs140288388 1:45796852-45796852 1:45331180-45331180
159 MUTYH NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)SNV Conflicting interpretations of pathogenicity 183787 rs74318065 1:45796899-45796899 1:45331227-45331227
160 MUTYH NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)SNV Conflicting interpretations of pathogenicity 186251 rs372673338 1:45797481-45797481 1:45331809-45331809
161 MUTYH NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp)SNV Conflicting interpretations of pathogenicity 185383 rs786202133 1:45796988-45796988 1:45331316-45331316
162 MUTYH NM_001128425.1(MUTYH):c.1251C>T (p.Arg417=)SNV Conflicting interpretations of pathogenicity 185395 rs786202141 1:45797164-45797164 1:45331492-45331492
163 MUTYH NM_001048171.1(MUTYH):c.1149G>T (p.Leu383=)SNV Conflicting interpretations of pathogenicity 184102 rs201412035 1:45797224-45797224 1:45331552-45331552
164 MUTYH NM_001048174.2(MUTYH):c.493-5A>GSNV Conflicting interpretations of pathogenicity 183746 rs758377868 1:45798364-45798364 1:45332692-45332692
165 MUTYH NM_001048171.1(MUTYH):c.654C>T (p.Thr218=)SNV Conflicting interpretations of pathogenicity 184547 rs780747266 1:45798155-45798155 1:45332483-45332483
166 MUTYH NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)SNV Conflicting interpretations of pathogenicity 140814 rs564930066 1:45798613-45798613 1:45332941-45332941
167 MUTYH NM_025077.4(TOE1):c.-45G>ASNV Conflicting interpretations of pathogenicity 138310 rs2275602 1:45805880-45805880 1:45340208-45340208
168 MUTYH NM_012222.2(MUTYH):c.496-4A>GSNV Conflicting interpretations of pathogenicity 138311 rs201678305 1:45798510-45798510 1:45332838-45332838
169 MUTYH NM_001048174.2(MUTYH):c.849+3A>CSNV Conflicting interpretations of pathogenicity 135992 rs587780751 1:45797835-45797835 1:45332163-45332163
170 MUTYH NM_001048171.1(MUTYH):c.42C>T (p.Ile14=)SNV Conflicting interpretations of pathogenicity 138307 rs202240122 1:45800178-45800178 1:45334506-45334506
171 MUTYH NM_001048171.1(MUTYH):c.158-54C>TSNV Conflicting interpretations of pathogenicity 138308 rs367908623 1:45799287-45799287 1:45333615-45333615
172 MUTYH NM_001128425.1(MUTYH):c.268G>A (p.Val90Ile)SNV Conflicting interpretations of pathogenicity 135985 rs375526246 1:45799165-45799165 1:45333493-45333493
173 MUTYH NM_001048171.1(MUTYH):c.1144+9A>TSNV Conflicting interpretations of pathogenicity 135981 rs587780742 1:45797324-45797324 1:45331652-45331652
174 MUTYH NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)SNV Conflicting interpretations of pathogenicity 135989 rs200165598 1:45798151-45798151 1:45332479-45332479
175 MUTYH NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)SNV Conflicting interpretations of pathogenicity 135990 rs587780749 1:45798115-45798115 1:45332443-45332443
176 MUTYH NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)SNV Conflicting interpretations of pathogenicity 134859 rs147718169 1:45797707-45797707 1:45332035-45332035
177 MUTYH NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)SNV Conflicting interpretations of pathogenicity 134867 rs587778542 1:45795081-45795081 1:45329409-45329409
178 MUTYH NM_001048171.1(MUTYH):c.530G>A (p.Arg177Gln)SNV Conflicting interpretations of pathogenicity 127846 rs369677603 1:45798439-45798439 1:45332767-45332767
179 MUTYH NM_001048171.1(MUTYH):c.956-9C>TSNV Conflicting interpretations of pathogenicity 132703 rs3219488 1:45797530-45797530 1:45331858-45331858
180 MUTYH NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)SNV Conflicting interpretations of pathogenicity 132760 rs121908380 1:45799121-45799121 1:45333449-45333449
181 MUTYH NM_001048171.1(MUTYH):c.1514G>A (p.Arg505Gln)SNV Conflicting interpretations of pathogenicity 127841 rs369410616 1:45795072-45795072 1:45329400-45329400
182 MUTYH NM_012222.2(MUTYH):c.1591C>T (p.Arg531Trp)SNV Conflicting interpretations of pathogenicity 127842 rs144616312 1:45795028-45795028 1:45329356-45329356
183 MUTYH NM_001128425.1(MUTYH):c.1640del (p.Ala547fs)deletion Conflicting interpretations of pathogenicity 127843 rs587780086 1:45794988-45794988 1:45329316-45329316
184 MUTYH NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln)SNV Conflicting interpretations of pathogenicity 141135 rs140156029 1:45797851-45797851 1:45332179-45332179
185 MUTYH NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp)SNV Conflicting interpretations of pathogenicity 141595 rs587781864 1:45798463-45798463 1:45332791-45332791
186 MUTYH NM_001128425.1(MUTYH):c.125A>G (p.Asn42Ser)SNV Conflicting interpretations of pathogenicity 142369 rs563275223 1:45800095-45800095 1:45334423-45334423
187 MUTYH NM_001128425.1(MUTYH):c.158-2A>GSNV Conflicting interpretations of pathogenicity 141862 rs587782066 1:45799277-45799277 1:45333605-45333605
188 MUTYH NM_001128425.1(MUTYH):c.451G>A (p.Gly151Arg)SNV Conflicting interpretations of pathogenicity 141994 rs587782165 1:45798780-45798780 1:45333108-45333108
189 MUTYH NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His)SNV Conflicting interpretations of pathogenicity 492713 rs3219489 1:45797505-45797505 1:45331833-45331833
190 MUTYH NM_001048174.2(MUTYH):c.1103-27C>TSNV Conflicting interpretations of pathogenicity 801475 1:45797255-45797255 1:45331583-45331583
191 MUTYH NM_001128425.1(MUTYH):c.247T>C (p.Ser83Pro)SNV Conflicting interpretations of pathogenicity 657944 1:45799186-45799186 1:45333514-45333514
192 MUTYH NM_001128425.1(MUTYH):c.545G>C (p.Arg182Pro)SNV Conflicting interpretations of pathogenicity 651962 1:45798466-45798466 1:45332794-45332794
193 MUTYH NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val)SNV Conflicting interpretations of pathogenicity 41751 rs35352891 1:45797401-45797401 1:45331729-45331729
194 MUTYH NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)SNV Conflicting interpretations of pathogenicity 41752 rs144079536 1:45797157-45797157 1:45331485-45331485
195 MUTYH NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)SNV Conflicting interpretations of pathogenicity 41753 rs150792276 1:45797139-45797139 1:45331467-45331467
196 MUTYH NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)SNV Conflicting interpretations of pathogenicity 41763 rs75321043 1:45800146-45800146 1:45334474-45334474
197 MUTYH NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)SNV Conflicting interpretations of pathogenicity 41764 rs149866955 1:45797950-45797950 1:45332278-45332278
198 MUTYH NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)SNV Conflicting interpretations of pathogenicity 41765 rs138089183 1:45797846-45797846 1:45332174-45332174
199 MUTYH NM_001048174.2(MUTYH):c.850-2A>GSNV Conflicting interpretations of pathogenicity 41766 rs77542170 1:45797760-45797760 1:45332088-45332088
200 MUTYH NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)SNV Conflicting interpretations of pathogenicity 41759 rs79777494 1:45800167-45800167 1:45334495-45334495
201 MUTYH NM_012222.2(MUTYH):c.1004_1005delinsGC (p.Gln335Arg)indel Conflicting interpretations of pathogenicity 127836 rs587780083 1:45797505-45797506 1:45331833-45331834
202 MUTYH NM_001128425.1(MUTYH):c.783G>T (p.Gln261His)SNV Conflicting interpretations of pathogenicity 631239 rs765339120 1:45798068-45798068 1:45332396-45332396
203 MUTYH NM_001128425.1(MUTYH):c.37-2A>GSNV Conflicting interpretations of pathogenicity 560804 rs1383826978 1:45800185-45800185 1:45334513-45334513
204 MUTYH NM_001048171.1(MUTYH):c.347-4C>GSNV Conflicting interpretations of pathogenicity 492040 rs767717597 1:45798846-45798846 1:45333174-45333174
205 MUTYH NM_001128425.1(MUTYH):c.563_576+1deldeletion Conflicting interpretations of pathogenicity 533312 rs766553845 1:45798434-45798448 1:45332762-45332776
206 MUTYH NM_001048171.1(MUTYH):c.956-8G>ASNV Conflicting interpretations of pathogenicity 492067 rs757672024 1:45797529-45797529 1:45331857-45331857
207 MUTYH NM_001128425.1(MUTYH):c.788+4G>ASNV Conflicting interpretations of pathogenicity 492059 rs761840203 1:45798059-45798059 1:45332387-45332387
208 MUTYH NM_001048174.2(MUTYH):c.493-5A>TSNV Conflicting interpretations of pathogenicity 483912 rs758377868 1:45798364-45798364 1:45332692-45332692
209 MUTYH NM_001128425.1(MUTYH):c.349-5G>ASNV Conflicting interpretations of pathogenicity 464713 rs1003387951 1:45799001-45799001 1:45333329-45333329
210 MUTYH NM_001128425.1(MUTYH):c.326G>C (p.Arg109Pro)SNV Conflicting interpretations of pathogenicity 464711 rs761763725 1:45799107-45799107 1:45333435-45333435
211 MUTYH NM_001128425.1(MUTYH):c.188G>A (p.Gly63Glu)SNV Conflicting interpretations of pathogenicity 479981 rs763693540 1:45799245-45799245 1:45333573-45333573
212 MUTYH NM_001128425.1(MUTYH):c.361A>G (p.Met121Val)SNV Conflicting interpretations of pathogenicity 485900 rs1553129862 1:45798984-45798984 1:45333312-45333312
213 MUTYH NM_001128425.1(MUTYH):c.1568G>A (p.Arg523His)SNV Conflicting interpretations of pathogenicity 464702 rs374655042 1:45795060-45795060 1:45329388-45329388
214 MUTYH NM_001128425.1(MUTYH):c.1433A>G (p.Gln478Arg)SNV Conflicting interpretations of pathogenicity 464695 rs774607582 1:45796897-45796897 1:45331225-45331225
215 MUTYH NM_001128425.1(MUTYH):c.1628G>A (p.Ser543Asn)SNV Conflicting interpretations of pathogenicity 483902 rs1553122804 1:45795000-45795000 1:45329328-45329328
216 MUTYH NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro)SNV Conflicting interpretations of pathogenicity 406845 rs1060501335 1:45797356-45797356 1:45331684-45331684
217 MUTYH NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp)SNV Conflicting interpretations of pathogenicity 419386 rs750592289 1:45798458-45798458 1:45332786-45332786
218 MUTYH NM_025077.4(TOE1):c.52+77G>ASNV Conflicting interpretations of pathogenicity 428279 rs3219466 1:45806053-45806053 1:45340381-45340381
219 MUTYH NM_001128425.1(MUTYH):c.933+10C>TSNV Conflicting interpretations of pathogenicity 414152 rs1060504205 1:45797828-45797828 1:45332156-45332156
220 MUTYH NM_001128425.1(MUTYH):c.44T>C (p.Met15Thr)SNV Conflicting interpretations of pathogenicity 406849 rs201163858 1:45800176-45800176 1:45334504-45334504
221 MUTYH NM_001128425.1(MUTYH):c.698G>A (p.Gly233Asp)SNV Uncertain significance 406839 rs147487160 1:45798153-45798153 1:45332481-45332481
222 MUTYH NM_001128425.1(MUTYH):c.319G>C (p.Glu107Gln)SNV Uncertain significance 406863 rs773108803 1:45799114-45799114 1:45333442-45333442
223 MUTYH NM_001128425.1(MUTYH):c.55C>G (p.Arg19Gly)SNV Uncertain significance 406831 rs587780088 1:45800165-45800165 1:45334493-45334493
224 MUTYH NM_025077.4(TOE1):c.-32A>GSNV Uncertain significance 406861 rs1060501343 1:45805893-45805893 1:45340221-45340221
225 MUTYH NM_001128425.1(MUTYH):c.1519-3C>TSNV Uncertain significance 406836 rs776766717 1:45795112-45795112 1:45329440-45329440
226 MUTYH NM_001128425.1(MUTYH):c.459G>T (p.Met153Ile)SNV Uncertain significance 406834 rs1060501328 1:45798772-45798772 1:45333100-45333100
227 MUTYH NM_001128425.1(MUTYH):c.1477-3T>CSNV Uncertain significance 406837 rs1060501330 1:45796232-45796232 1:45330560-45330560
228 MUTYH NM_001128425.1(MUTYH):c.1283C>T (p.Ala428Val)SNV Uncertain significance 406832 rs1060501326 1:45797132-45797132 1:45331460-45331460
229 MUTYH NM_001128425.1(MUTYH):c.166G>A (p.Gly56Arg)SNV Uncertain significance 406840 rs1060501331 1:45799267-45799267 1:45333595-45333595
230 MUTYH NM_001128425.1(MUTYH):c.119C>A (p.Ala40Asp)SNV Uncertain significance 406852 rs1060501338 1:45800101-45800101 1:45334429-45334429
231 MUTYH NM_001128425.1(MUTYH):c.697G>A (p.Gly233Ser)SNV Uncertain significance 406846 rs377639760 1:45798154-45798154 1:45332482-45332482
232 MUTYH NM_001128425.1(MUTYH):c.608G>T (p.Arg203Leu)SNV Uncertain significance 406851 rs538383136 1:45798328-45798328 1:45332656-45332656
233 MUTYH NM_001128425.1(MUTYH):c.605C>T (p.Pro202Leu)SNV Uncertain significance 406850 rs778104957 1:45798331-45798331 1:45332659-45332659
234 MUTYH NM_001128425.1(MUTYH):c.576+3A>GSNV Uncertain significance 406860 rs765792042 1:45798432-45798432 1:45332760-45332760
235 MUTYH NM_001128425.1(MUTYH):c.527G>A (p.Gly176Asp)SNV Uncertain significance 406865 rs1060501345 1:45798484-45798484 1:45332812-45332812
236 MUTYH NM_001128425.1(MUTYH):c.718G>A (p.Ala240Thr)SNV Uncertain significance 406859 rs774237159 1:45798133-45798133 1:45332461-45332461
237 MUTYH NM_001128425.1(MUTYH):c.576G>T (p.Lys192Asn)SNV Uncertain significance 406821 rs876660092 1:45798435-45798435 1:45332763-45332763
238 MUTYH NM_001128425.1(MUTYH):c.1309C>A (p.Arg437=)SNV Uncertain significance 406857 rs587778540 1:45797106-45797106 1:45331434-45331434
239 MUTYH NM_001128425.1(MUTYH):c.740G>A (p.Arg247Gln)SNV Uncertain significance 406828 rs777335285 1:45798111-45798111 1:45332439-45332439
240 MUTYH NC_000001.10:g.(?_45794914)_(45800183_?)dupduplication Uncertain significance 417585 1:45794914-45800183 1:45329242-45334511
241 MUTYH NM_001128425.1(MUTYH):c.1645C>T (p.Gln549Ter)SNV Uncertain significance 406862 rs765990397 1:45794983-45794983 1:45329311-45329311
242 MUTYH NM_001128425.1(MUTYH):c.1323+6T>CSNV Uncertain significance 406856 rs1060501341 1:45797086-45797086 1:45331414-45331414
243 MUTYH NM_001128425.1(MUTYH):c.1201C>A (p.Leu401Met)SNV Uncertain significance 406843 rs1060501334 1:45797214-45797214 1:45331542-45331542
244 MUTYH NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)SNV Uncertain significance 406844 rs763862261 1:45797404-45797404 1:45331732-45331732
245 MUTYH NM_001128425.1(MUTYH):c.196G>A (p.Ala66Thr)SNV Uncertain significance 418771 rs1064793421 1:45799237-45799237 1:45333565-45333565
246 MUTYH NM_001128425.1(MUTYH):c.664G>A (p.Ala222Thr)SNV Uncertain significance 428280 rs1114167683 1:45798272-45798272 1:45332600-45332600
247 MUTYH NM_001128425.1(MUTYH):c.1121C>T (p.Thr374Ile)SNV Uncertain significance 439219 rs1553126467 1:45797398-45797398 1:45331726-45331726
248 MUTYH NM_001128425.1(MUTYH):c.961G>C (p.Gly321Arg)SNV Uncertain significance 439221 rs765686051 1:45797731-45797731 1:45332059-45332059
249 MUTYH NM_001128425.1(MUTYH):c.217G>A (p.Glu73Lys)SNV Uncertain significance 419820 rs1064794128 1:45799216-45799216 1:45333544-45333544
250 MUTYH NM_001048171.1(MUTYH):c.170A>G (p.Gln57Arg)SNV Uncertain significance 420944 rs767237971 1:45799221-45799221 1:45333549-45333549
251 MUTYH NM_001128425.1(MUTYH):c.662G>C (p.Gly221Ala)SNV Uncertain significance 419302 rs1064793779 1:45798274-45798274 1:45332602-45332602
252 MUTYH NM_001128425.1(MUTYH):c.1103G>A (p.Arg368Lys)SNV Uncertain significance 406855 rs1060501340 1:45797416-45797416 1:45331744-45331744
253 MUTYH NM_001128425.1(MUTYH):c.1076C>T (p.Pro359Leu)SNV Uncertain significance 406827 rs1060501323 1:45797443-45797443 1:45331771-45331771
254 MUTYH NM_001128425.1(MUTYH):c.848T>C (p.Met283Thr)SNV Uncertain significance 406833 rs1060501327 1:45797923-45797923 1:45332251-45332251
255 MUTYH NM_001128425.1(MUTYH):c.842C>T (p.Ala281Val)SNV Uncertain significance 406835 rs1060501329 1:45797929-45797929 1:45332257-45332257
256 MUTYH NM_025077.4(TOE1):c.1A>C (p.Met1Leu)SNV Uncertain significance 406866 rs865954220 1:45805925-45805925 1:45340253-45340253
257 MUTYH NM_001128425.1(MUTYH):c.1615A>G (p.Thr539Ala)SNV Uncertain significance 418929 rs151196169 1:45795013-45795013 1:45329341-45329341
258 MUTYH NM_012222.2(MUTYH):c.1547_1595del (p.Arg516fs)deletion Uncertain significance 420317 rs1064794411 1:45795024-45795072 1:45329352-45329400
259 MUTYH NM_001128425.1(MUTYH):c.1514G>A (p.Cys505Tyr)SNV Uncertain significance 419117 rs1064793656 1:45796192-45796192 1:45330520-45330520
260 MUTYH NM_001128425.1(MUTYH):c.1430C>A (p.Thr477Lys)SNV Uncertain significance 418800 rs767747402 1:45796900-45796900 1:45331228-45331228
261 MUTYH NM_012222.2(MUTYH):c.1314+6_1314+12deldeletion Uncertain significance 406841 rs1060501332 1:45797080-45797086 1:45331408-45331414
262 MUTYH NM_012222.2(MUTYH):c.547_548delinsTG (p.Leu183Trp)indel Uncertain significance 406848 rs1060501337 1:45798454-45798455 1:45332782-45332783
263 MUTYH NM_001128425.1(MUTYH):c.320A>G (p.Glu107Gly)SNV Uncertain significance 406854 rs1060501339 1:45799113-45799113 1:45333441-45333441
264 MUTYH NM_001128425.1(MUTYH):c.310T>G (p.Tyr104Asp)SNV Uncertain significance 406864 rs1060501344 1:45799123-45799123 1:45333451-45333451
265 MUTYH NM_001128425.1(MUTYH):c.1552A>C (p.Ser518Arg)SNV Uncertain significance 483938 rs1380281188 1:45795076-45795076 1:45329404-45329404
266 MUTYH NM_001048174.2(MUTYH):c.1434+3A>TSNV Uncertain significance 479989 rs1553123967 1:45796185-45796185 1:45330513-45330513
267 MUTYH NM_001128425.1(MUTYH):c.1532C>T (p.Ser511Phe)SNV Uncertain significance 483928 rs796921537 1:45795096-45795096 1:45329424-45329424
268 MUTYH NM_001128425.1(MUTYH):c.1636A>G (p.Ser546Gly)SNV Uncertain significance 480010 rs1553122801 1:45794992-45794992 1:45329320-45329320
269 MUTYH NM_001128425.1(MUTYH):c.1523C>A (p.Ser508Tyr)SNV Uncertain significance 483906 rs1161972119 1:45795105-45795105 1:45329433-45329433
270 MUTYH NM_001128425.1(MUTYH):c.1450G>A (p.Ala484Thr)SNV Uncertain significance 479993 rs1441591597 1:45796880-45796880 1:45331208-45331208
271 MUTYH NM_001128425.1(MUTYH):c.1495G>A (p.Gly499Ser)SNV Uncertain significance 483930 rs1553124088 1:45796211-45796211 1:45330539-45330539
272 MUTYH NM_001128425.1(MUTYH):c.1291C>G (p.Leu431Val)SNV Uncertain significance 464685 rs1280648051 1:45797124-45797124 1:45331452-45331452
273 MUTYH NM_001128425.1(MUTYH):c.1262T>C (p.Leu421Pro)SNV Uncertain significance 464682 rs1553125786 1:45797153-45797153 1:45331481-45331481
274 MUTYH NM_001128425.1(MUTYH):c.1153G>A (p.Ala385Thr)SNV Uncertain significance 464678 rs876659232 1:45797366-45797366 1:45331694-45331694
275 MUTYH NM_001128425.1(MUTYH):c.767C>T (p.Thr256Ile)SNV Uncertain significance 464738 rs766173546 1:45798084-45798084 1:45332412-45332412
276 MUTYH NM_001128425.1(MUTYH):c.764G>A (p.Ser255Asn)SNV Uncertain significance 464737 rs1553128005 1:45798087-45798087 1:45332415-45332415
277 MUTYH NM_001128425.1(MUTYH):c.602T>C (p.Met201Thr)SNV Uncertain significance 464733 rs1553128600 1:45798334-45798334 1:45332662-45332662
278 MUTYH NM_001128425.1(MUTYH):c.463-3T>CSNV Uncertain significance 464723 rs770203030 1:45798634-45798634 1:45332962-45332962
279 MUTYH NM_001128425.1(MUTYH):c.463-7G>ASNV Uncertain significance 464724 rs1553129378 1:45798638-45798638 1:45332966-45332966
280 MUTYH NM_001128425.1(MUTYH):c.462+3G>TSNV Uncertain significance 464722 rs373939052 1:45798766-45798766 1:45333094-45333094
281 MUTYH NM_025077.4(TOE1):c.-40G>CSNV Uncertain significance 464716 rs1553136962 1:45805885-45805885 1:45340213-45340213
282 MUTYH NM_001128425.1(MUTYH):c.1117G>T (p.Ala373Ser)SNV Uncertain significance 464675 rs1553126489 1:45797402-45797402 1:45331730-45331730
283 MUTYH NM_001128425.1(MUTYH):c.523G>C (p.Ala175Pro)SNV Uncertain significance 464730 rs770478980 1:45798488-45798488 1:45332816-45332816
284 MUTYH NM_001128425.1(MUTYH):c.1129C>G (p.Leu377Val)SNV Uncertain significance 464676 rs1216396008 1:45797390-45797390 1:45331718-45331718
285 MUTYH NM_001128425.1(MUTYH):c.1001C>T (p.Pro334Leu)SNV Uncertain significance 464674 rs1553127049 1:45797518-45797518 1:45331846-45331846
286 MUTYH NM_001128425.1(MUTYH):c.694A>T (p.Thr232Ser)SNV Uncertain significance 464736 rs587782351 1:45798157-45798157 1:45332485-45332485
287 MUTYH NM_012222.2(MUTYH):c.594_595delinsAT (p.Met198_Pro199delinsIleSer)indel Uncertain significance 464734 rs1553128595 1:45798332-45798333 1:45332660-45332661
288 MUTYH NM_001128425.1(MUTYH):c.569C>T (p.Ala190Val)SNV Uncertain significance 464732 rs1553128757 1:45798442-45798442 1:45332770-45332770
289 MUTYH NM_001128425.1(MUTYH):c.505G>A (p.Glu169Lys)SNV Uncertain significance 464728 rs1553129083 1:45798506-45798506 1:45332834-45332834
290 MUTYH NM_001128425.1(MUTYH):c.1429A>G (p.Thr477Ala)SNV Uncertain significance 464694 rs1553124948 1:45796901-45796901 1:45331229-45331229
291 MUTYH NM_001128425.1(MUTYH):c.385G>A (p.Ala129Thr)SNV Uncertain significance 464718 rs1553129798 1:45798960-45798960 1:45333288-45333288
292 MUTYH NM_001128425.1(MUTYH):c.1268A>G (p.Glu423Gly)SNV Uncertain significance 464683 rs1553125769 1:45797147-45797147 1:45331475-45331475
293 MUTYH NM_001128425.1(MUTYH):c.446A>G (p.Tyr149Cys)SNV Uncertain significance 464720 rs1221837292 1:45798785-45798785 1:45333113-45333113
294 MUTYH NM_001128425.1(MUTYH):c.1535A>C (p.Gln512Pro)SNV Uncertain significance 464700 rs1553123054 1:45795093-45795093 1:45329421-45329421
295 MUTYH NM_001128425.1(MUTYH):c.1380G>A (p.Leu460=)SNV Uncertain significance 464692 rs1553125152 1:45796950-45796950 1:45331278-45331278
296 MUTYH NM_001128425.1(MUTYH):c.1256C>T (p.Ala419Val)SNV Uncertain significance 464680 rs369299948 1:45797159-45797159 1:45331487-45331487
297 MUTYH NM_012222.2(MUTYH):c.1203_1205dup (p.Pro402dup)duplication Uncertain significance 464679 rs1553126007 1:45797200-45797201 1:45331528-45331529
298 MUTYH NM_001128425.1(MUTYH):c.310T>C (p.Tyr104His)SNV Uncertain significance 464710 rs1060501344 1:45799123-45799123 1:45333451-45333451
299 MUTYH NM_001128425.1(MUTYH):c.193C>T (p.Pro65Ser)SNV Uncertain significance 464707 rs1553130504 1:45799240-45799240 1:45333568-45333568
300 MUTYH NM_001128425.1(MUTYH):c.157+3A>GSNV Uncertain significance 464703 rs1553131280 1:45800060-45800060 1:45334388-45334388
301 MUTYH NM_001128425.1(MUTYH):c.91G>A (p.Ala31Thr)SNV Uncertain significance 464739 rs1553131489 1:45800129-45800129 1:45334457-45334457
302 MUTYH NM_025077.4(TOE1):c.-27C>TSNV Uncertain significance 464709 rs755928199 1:45805898-45805898 1:45340226-45340226
303 MUTYH NM_001128425.1(MUTYH):c.1622C>A (p.Ala541Glu)SNV Uncertain significance 464705 rs751053826 1:45795006-45795006 1:45329334-45329334
304 MUTYH NM_001128425.1(MUTYH):c.523G>T (p.Ala175Ser)SNV Uncertain significance 480003 rs770478980 1:45798488-45798488 1:45332816-45332816
305 MUTYH NM_001128425.1(MUTYH):c.297C>G (p.Ser99Arg)SNV Uncertain significance 481790 rs752209909 1:45799136-45799136 1:45333464-45333464
306 MUTYH NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn)SNV Uncertain significance 483890 rs1553127574 1:45797860-45797860 1:45332188-45332188
307 MUTYH NM_001128425.1(MUTYH):c.904G>T (p.Val302Leu)SNV Uncertain significance 481791 rs760889663 1:45797867-45797867 1:45332195-45332195
308 MUTYH NM_001128425.1(MUTYH):c.829G>T (p.Asp277Tyr)SNV Uncertain significance 480014 rs1553127779 1:45797942-45797942 1:45332270-45332270
309 MUTYH NM_001128425.1(MUTYH):c.808G>A (p.Val270Met)SNV Uncertain significance 481823 rs765046399 1:45797963-45797963 1:45332291-45332291
310 MUTYH NM_001128425.1(MUTYH):c.1073T>A (p.Phe358Tyr)SNV Uncertain significance 479997 rs1553126738 1:45797446-45797446 1:45331774-45331774
311 MUTYH NM_001128425.1(MUTYH):c.64G>T (p.Val22Leu)SNV Uncertain significance 483892 rs3219484 1:45800156-45800156 1:45334484-45334484
312 MUTYH NM_025077.4(TOE1):c.-38G>ASNV Uncertain significance 480005 rs774530388 1:45805887-45805887 1:45340215-45340215
313 MUTYH NM_001128425.1(MUTYH):c.571C>G (p.Arg191Gly)SNV Uncertain significance 481803 rs761101420 1:45798440-45798440 1:45332768-45332768
314 MUTYH NM_001128425.1(MUTYH):c.562G>A (p.Glu188Lys)SNV Uncertain significance 486918 rs1428261191 1:45798449-45798449 1:45332777-45332777
315 MUTYH NM_025077.4(TOE1):c.-6G>CSNV Uncertain significance 480012 rs745424307 1:45805919-45805919 1:45340247-45340247
316 MUTYH NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr)SNV Uncertain significance 479996 rs750954949 1:45799146-45799146 1:45333474-45333474
317 MUTYH NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg)SNV Uncertain significance 481806 rs1212933615 1:45798615-45798615 1:45332943-45332943
318 MUTYH NM_001128425.1(MUTYH):c.226G>T (p.Val76Leu)SNV Uncertain significance 481796 rs1553130405 1:45799207-45799207 1:45333535-45333535
319 MUTYH NM_001128425.1(MUTYH):c.241G>T (p.Val81Phe)SNV Uncertain significance 464708 rs946755892 1:45799192-45799192 1:45333520-45333520
320 MUTYH NM_001128425.1(MUTYH):c.1367A>T (p.Tyr456Phe)SNV Uncertain significance 483913 rs1399651154 1:45796963-45796963 1:45331291-45331291
321 MUTYH NM_001128425.1(MUTYH):c.1277G>A (p.Arg426His)SNV Uncertain significance 480008 rs748700385 1:45797138-45797138 1:45331466-45331466
322 MUTYH NM_001128425.1(MUTYH):c.1172A>G (p.Gln391Arg)SNV Uncertain significance 479994 rs984795084 1:45797347-45797347 1:45331675-45331675
323 MUTYH NM_001128425.1(MUTYH):c.1195G>A (p.Ala399Thr)SNV Uncertain significance 483929 rs876658372 1:45797220-45797220 1:45331548-45331548
324 MUTYH NM_001128425.1(MUTYH):c.1055C>T (p.Thr352Ile)SNV Uncertain significance 485903 rs587781703 1:45797464-45797464 1:45331792-45331792
325 MUTYH NM_001128425.1(MUTYH):c.533G>C (p.Gly178Ala)SNV Uncertain significance 481808 rs1553128962 1:45798478-45798478 1:45332806-45332806
326 MUTYH NM_001128425.1(MUTYH):c.508G>A (p.Val170Met)SNV Uncertain significance 481787 rs786203212 1:45798503-45798503 1:45332831-45332831
327 MUTYH NM_001128425.1(MUTYH):c.564G>C (p.Glu188Asp)SNV Uncertain significance 480000 rs1335408660 1:45798447-45798447 1:45332775-45332775
328 MUTYH NM_001128425.1(MUTYH):c.554G>A (p.Arg185Gln)SNV Uncertain significance 481821 rs533899702 1:45798457-45798457 1:45332785-45332785
329 MUTYH NM_001128425.1(MUTYH):c.692C>G (p.Ala231Gly)SNV Uncertain significance 481794 rs781551140 1:45798159-45798159 1:45332487-45332487
330 MUTYH NM_001128425.1(MUTYH):c.649C>A (p.Arg217Ser)SNV Uncertain significance 483935 rs537292657 1:45798287-45798287 1:45332615-45332615
331 MUTYH NM_001128425.1(MUTYH):c.563A>T (p.Glu188Val)SNV Uncertain significance 490038 rs1553128788 1:45798448-45798448 1:45332776-45332776
332 MUTYH NM_001128425.1(MUTYH):c.502G>A (p.Glu168Lys)SNV Uncertain significance 490037 rs1553129230 1:45798592-45798592 1:45332920-45332920
333 MUTYH NM_001128425.1(MUTYH):c.1618G>A (p.Asp540Asn)SNV Uncertain significance 492027 rs1439243449 1:45795010-45795010 1:45329338-45329338
334 MUTYH NM_001128425.1(MUTYH):c.1638T>G (p.Ser546Arg)SNV Uncertain significance 533307 rs1553122794 1:45794990-45794990 1:45329318-45329318
335 MUTYH NM_001128425.1(MUTYH):c.1379T>C (p.Leu460Ser)SNV Uncertain significance 533317 rs1553125160 1:45796951-45796951 1:45331279-45331279
336 MUTYH NM_001128425.1(MUTYH):c.1477-4C>GSNV Uncertain significance 533308 rs1553124158 1:45796233-45796233 1:45330561-45330561
337 MUTYH NM_001128425.1(MUTYH):c.1151G>A (p.Gly384Glu)SNV Uncertain significance 533309 rs1553126383 1:45797368-45797368 1:45331696-45331696
338 MUTYH NM_001128425.1(MUTYH):c.990G>T (p.Glu330Asp)SNV Uncertain significance 533301 rs1553127290 1:45797702-45797702 1:45332030-45332030
339 MUTYH NM_001128425.1(MUTYH):c.965G>A (p.Ser322Asn)SNV Uncertain significance 533311 rs587781810 1:45797727-45797727 1:45332055-45332055
340 MUTYH NM_001128425.1(MUTYH):c.1415G>T (p.Gly472Val)SNV Uncertain significance 533310 rs1553125016 1:45796915-45796915 1:45331243-45331243
341 MUTYH NM_001128425.1(MUTYH):c.790G>A (p.Gly264Ser)SNV Uncertain significance 533314 rs1328890188 1:45797981-45797981 1:45332309-45332309
342 MUTYH NM_001128425.1(MUTYH):c.617A>G (p.Glu206Gly)SNV Uncertain significance 533304 rs1553128548 1:45798319-45798319 1:45332647-45332647
343 MUTYH NM_001128425.1(MUTYH):c.337T>C (p.Trp113Arg)SNV Uncertain significance 533303 rs776719541 1:45799096-45799096 1:45333424-45333424
344 MUTYH NM_012222.2(MUTYH):c.532T>C (p.Ser178Pro)SNV Uncertain significance 533296 rs769684812 1:45798470-45798470 1:45332798-45332798
345 MUTYH NM_001128425.1(MUTYH):c.352G>A (p.Glu118Lys)SNV Uncertain significance 464714 rs1553129892 1:45798993-45798993 1:45333321-45333321
346 MUTYH NM_001128425.1(MUTYH):c.164C>T (p.Ala55Val)SNV Uncertain significance 483897 rs1553130580 1:45799269-45799269 1:45333597-45333597
347 MUTYH NM_001128425.1(MUTYH):c.1337_1339del (p.Phe446del)deletion Uncertain significance 492014 rs747232389 1:45796991-45796993 1:45331319-45331321
348 MUTYH NM_025077.4(TOE1):c.-27C>GSNV Uncertain significance 492030 rs755928199 1:45805898-45805898 1:45340226-45340226
349 MUTYH NM_001128425.1(MUTYH):c.505G>C (p.Glu169Gln)SNV Uncertain significance 533313 rs1553129083 1:45798506-45798506 1:45332834-45332834
350 MUTYH NM_001128425.1(MUTYH):c.281C>T (p.Thr94Ile)SNV Uncertain significance 533315 rs1553130271 1:45799152-45799152 1:45333480-45333480
351 MUTYH NM_001128425.1(MUTYH):c.1519-2A>GSNV Uncertain significance 533318 rs1553123105 1:45795111-45795111 1:45329439-45329439
352 MUTYH NM_001128425.1(MUTYH):c.517C>T (p.Leu173Phe)SNV Uncertain significance 533297 rs1466705435 1:45798494-45798494 1:45332822-45332822
353 MUTYH NM_001128425.1(MUTYH):c.473C>T (p.Thr158Ile)SNV Uncertain significance 533316 rs771549068 1:45798621-45798621 1:45332949-45332949
354 MUTYH NM_001128425.1(MUTYH):c.126C>G (p.Asn42Lys)SNV Uncertain significance 533298 rs200514222 1:45800094-45800094 1:45334422-45334422
355 MUTYH NM_001128425.1(MUTYH):c.109C>G (p.Gln37Glu)SNV Uncertain significance 533300 rs1270853129 1:45800111-45800111 1:45334439-45334439
356 MUTYH NM_001128425.1(MUTYH):c.1072T>G (p.Phe358Val)SNV Uncertain significance 533302 rs587781601 1:45797447-45797447 1:45331775-45331775
357 MUTYH NM_001128425.1(MUTYH):c.800A>C (p.Gln267Pro)SNV Uncertain significance 533295 rs1553127846 1:45797971-45797971 1:45332299-45332299
358 MUTYH NC_000001.10:g.(?_45794968)_(45805936_?)dupduplication Uncertain significance 583503 1:45794968-45805936 1:45329296-45340264
359 MUTYH NC_000001.10:g.(?_45796848)_(45800189_?)dupduplication Uncertain significance 583938 1:45796848-45800189 1:45331176-45334517
360 MUTYH NM_001128425.1(MUTYH):c.1162C>G (p.Leu388Val)SNV Uncertain significance 576734 rs1249171431 1:45797357-45797357 1:45331685-45331685
361 MUTYH NM_001128425.1(MUTYH):c.787T>C (p.Trp263Arg)SNV Uncertain significance 565360 rs1557472871 1:45798064-45798064 1:45332392-45332392
362 MUTYH NM_001128425.1(MUTYH):c.670G>T (p.Ala224Ser)SNV Uncertain significance 570150 rs878854192 1:45798266-45798266 1:45332594-45332594
363 MUTYH NM_001128425.1(MUTYH):c.343A>G (p.Arg115Gly)SNV Uncertain significance 581172 rs950856923 1:45799090-45799090 1:45333418-45333418
364 MUTYH NM_001293192.1(MUTYH):c.-83_-78deldeletion Uncertain significance 555160 rs1553130269 1:45799150-45799155 1:45333478-45333483
365 MUTYH NM_025077.4(TOE1):c.-12A>GSNV Uncertain significance 533299 rs1553137063 1:45805913-45805913 1:45340241-45340241
366 MUTYH NM_012222.2(MUTYH):c.454-4A>GSNV Uncertain significance 547539 rs1553129371 1:45798635-45798635 1:45332963-45332963
367 MUTYH NM_001128425.1(MUTYH):c.314A>G (p.Asp105Gly)SNV Uncertain significance 628007 rs1557485832 1:45799119-45799119 1:45333447-45333447
368 MUTYH NM_001128425.1(MUTYH):c.154G>A (p.Asp52Asn)SNV Uncertain significance 629949 rs1245520779 1:45800066-45800066 1:45334394-45334394
369 MUTYH NM_025077.4(TOE1):c.-8G>ASNV Uncertain significance 628380 rs587782404 1:45805917-45805917 1:45340245-45340245
370 MUTYH NM_001128425.1(MUTYH):c.739C>G (p.Arg247Gly)SNV Uncertain significance 587355 rs587782885 1:45798112-45798112 1:45332440-45332440
371 MUTYH NM_001128425.1(MUTYH):c.1274A>G (p.Gln425Arg)SNV Uncertain significance 619702 rs1205029214 1:45797141-45797141 1:45331469-45331469
372 MUTYH NM_001128425.1(MUTYH):c.134A>G (p.Gln45Arg)SNV Uncertain significance 577318 rs1557491929 1:45800086-45800086 1:45334414-45334414
373 MUTYH NM_001128425.1(MUTYH):c.985G>C (p.Val329Leu)SNV Uncertain significance 571576 rs147718169 1:45797707-45797707 1:45332035-45332035
374 MUTYH NM_001128425.1(MUTYH):c.857G>T (p.Gly286Val)SNV Uncertain significance 570573 rs730881833 1:45797914-45797914 1:45332242-45332242
375 MUTYH NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)SNV Uncertain significance 584584 rs1557444106 1:45795029-45795029 1:45329357-45329357
376 MUTYH NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu)SNV Uncertain significance 584585 rs1557471507 1:45797944-45797944 1:45332272-45332272
377 MUTYH NM_001048174.2(MUTYH):c.606+3G>CSNV Uncertain significance 584586 rs1553128340 1:45798243-45798243 1:45332571-45332571
378 MUTYH NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr)SNV Uncertain significance 584587 rs1557484437 1:45798983-45798983 1:45333311-45333311
379 MUTYH NM_001048174.2(MUTYH):c.181G>C (p.Asp61His)SNV Uncertain significance 584588 rs1557486724 1:45799168-45799168 1:45333496-45333496
380 MUTYH NM_001128425.1(MUTYH):c.665C>T (p.Ala222Val)SNV Uncertain significance 580667 rs1557476104 1:45798271-45798271 1:45332599-45332599
381 MUTYH NM_001128425.1(MUTYH):c.454T>A (p.Trp152Arg)SNV Uncertain significance 568983 rs1261588058 1:45798777-45798777 1:45333105-45333105
382 MUTYH NM_001128425.1(MUTYH):c.170T>G (p.Met57Arg)SNV Uncertain significance 577349 rs1557487867 1:45799263-45799263 1:45333591-45333591
383 MUTYH NM_001128425.1(MUTYH):c.44T>G (p.Met15Arg)SNV Uncertain significance 567351 rs201163858 1:45800176-45800176 1:45334504-45334504
384 MUTYH NM_025077.4(TOE1):c.-17G>ASNV Uncertain significance 576017 rs1382218222 1:45805908-45805908 1:45340236-45340236
385 MUTYH NM_001128425.1(MUTYH):c.1476+4C>TSNV Uncertain significance 574106 rs1557455162 1:45796850-45796850 1:45331178-45331178
386 MUTYH NM_001128425.1(MUTYH):c.1298C>G (p.Ala433Gly)SNV Uncertain significance 569929 rs1557459395 1:45797117-45797117 1:45331445-45331445
387 MUTYH NM_001128425.1(MUTYH):c.1033C>T (p.Pro345Ser)SNV Uncertain significance 579535 rs1377976805 1:45797486-45797486 1:45331814-45331814
388 MUTYH NM_001128425.1(MUTYH):c.389-7C>GSNV Uncertain significance 567000 rs863224698 1:45798849-45798849 1:45333177-45333177
389 MUTYH NM_001128425.1(MUTYH):c.341G>A (p.Arg114Lys)SNV Uncertain significance 566323 rs1557485377 1:45799092-45799092 1:45333420-45333420
390 MUTYH NM_001128425.1(MUTYH):c.163G>T (p.Ala55Ser)SNV Uncertain significance 582904 rs1557487984 1:45799270-45799270 1:45333598-45333598
391 MUTYH NM_001128425.1(MUTYH):c.88G>T (p.Ala30Ser)SNV Uncertain significance 579598 rs1557492581 1:45800132-45800132 1:45334460-45334460
392 MUTYH NM_025077.4(TOE1):c.-38dupduplication Uncertain significance 573559 rs1557517901 1:45805886-45805887 1:45340214-45340215
393 MUTYH NM_001128425.1(MUTYH):c.1499A>C (p.Gln500Pro)SNV Uncertain significance 568404 rs1557451662 1:45796207-45796207 1:45330535-45330535
394 MUTYH NM_001128425.1(MUTYH):c.1427T>C (p.Leu476Pro)SNV Uncertain significance 572116 rs756405535 1:45796903-45796903 1:45331231-45331231
395 MUTYH NM_001128425.1(MUTYH):c.1319G>A (p.Gly440Glu)SNV Uncertain significance 571319 rs1557458862 1:45797096-45797096 1:45331424-45331424
396 MUTYH NM_001128425.1(MUTYH):c.1243C>T (p.Leu415Phe)SNV Uncertain significance 566859 rs1557460984 1:45797172-45797172 1:45331500-45331500
397 MUTYH NM_001128425.1(MUTYH):c.1234T>C (p.Ser412Pro)SNV Uncertain significance 571810 rs1557461219 1:45797181-45797181 1:45331509-45331509
398 MUTYH NM_001128425.1(MUTYH):c.1202T>A (p.Leu401Gln)SNV Uncertain significance 567406 rs1557461836 1:45797213-45797213 1:45331541-45331541
399 MUTYH NM_001128425.1(MUTYH):c.944A>G (p.Glu315Gly)SNV Uncertain significance 566359 rs1557468846 1:45797748-45797748 1:45332076-45332076
400 MUTYH NM_001128425.1(MUTYH):c.904G>A (p.Val302Met)SNV Uncertain significance 566388 rs760889663 1:45797867-45797867 1:45332195-45332195
401 MUTYH NM_001128425.1(MUTYH):c.894C>G (p.Ser298Arg)SNV Uncertain significance 571385 rs937766053 1:45797877-45797877 1:45332205-45332205
402 MUTYH NM_001048171.1(MUTYH):c.1259C>T (p.Thr420Met)SNV Uncertain significance 127837 rs587780084 1:45797114-45797114 1:45331442-45331442
403 MUTYH NM_001128425.1(MUTYH):c.1493A>G (p.Gln498Arg)SNV Uncertain significance 127840 rs587780085 1:45796213-45796213 1:45330541-45330541
404 MUTYH NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu)SNV Uncertain significance 127832 rs587780079 1:45797126-45797126 1:45331454-45331454
405 MUTYH NM_001048171.1(MUTYH):c.1528A>T (p.Met510Leu)SNV Uncertain significance 127833 rs587780080 1:45795058-45795058 1:45329386-45329386
406 MUTYH NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)SNV Uncertain significance 127834 rs587780081 1:45800164-45800164 1:45334492-45334492
407 MUTYH NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala)SNV Uncertain significance 801478 1:45798281-45798281 1:45332609-45332609
408 MUTYH NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)SNV Uncertain significance 41758 rs200747973 1:45799182-45799182 1:45333510-45333510
409 MUTYH NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys)SNV Uncertain significance 41754 rs200229669 1:45796910-45796910 1:45331238-45331238
410 MUTYH NM_025077.4(TOE1):c.-37T>CSNV Uncertain significance 862790 1:45805888-45805888 1:45340216-45340216
411 MUTYH NM_001048174.2(MUTYH):c.1434+3A>GSNV Uncertain significance 853986 1:45796185-45796185 1:45330513-45330513
412 MUTYH NM_001048174.2(MUTYH):c.378+5C>TSNV Uncertain significance 859345 1:45798764-45798764 1:45333092-45333092
413 MUTYH NM_001048174.2(MUTYH):c.305-5C>GSNV Uncertain significance 850787 1:45798847-45798847 1:45333175-45333175
414 MUTYH NM_025077.4(TOE1):c.52+115G>ASNV Uncertain significance 874445 1:45806091-45806091 1:45340419-45340419
415 MUTYH NM_001048174.2(MUTYH):c.225G>T (p.Trp75Cys)SNV Uncertain significance 847182 1:45799124-45799124 1:45333452-45333452
416 MUTYH NM_001048174.2(MUTYH):c.644T>C (p.Leu215Pro)SNV Uncertain significance 845282 1:45798123-45798123 1:45332451-45332451
417 MUTYH NM_001048174.2(MUTYH):c.641T>C (p.Val214Ala)SNV Uncertain significance 843949 1:45798126-45798126 1:45332454-45332454
418 MUTYH NM_001048174.2(MUTYH):c.463G>A (p.Gly155Ser)SNV Uncertain significance 850383 1:45798464-45798464 1:45332792-45332792
419 MUTYH NM_001048174.2(MUTYH):c.358T>C (p.Tyr120His)SNV Uncertain significance 846557 1:45798789-45798789 1:45333117-45333117
420 MUTYH NM_001048174.2(MUTYH):c.340G>A (p.Val114Ile)SNV Uncertain significance 839170 1:45798807-45798807 1:45333135-45333135
421 MUTYH NM_001048174.2(MUTYH):c.309G>C (p.Trp103Cys)SNV Uncertain significance 862395 1:45798838-45798838 1:45333166-45333166
422 MUTYH NM_001048174.2(MUTYH):c.1384A>G (p.Met462Val)SNV Uncertain significance 819294 1:45796862-45796862 1:45331190-45331190
423 MUTYH NM_001048174.2(MUTYH):c.904G>A (p.Glu302Lys)SNV Uncertain significance 823540 1:45797704-45797704 1:45332032-45332032
424 MUTYH NM_001048174.2(MUTYH):c.686T>G (p.Leu229Arg)SNV Uncertain significance 827215 1:45798081-45798081 1:45332409-45332409
425 MUTYH NM_001048174.2(MUTYH):c.262C>G (p.Arg88Gly)SNV Uncertain significance 823807 1:45799087-45799087 1:45333415-45333415
426 MUTYH NC_000001.11:g.(?_44822405)_(45340264_?)dupduplication Uncertain significance 830540 1:45288077-45805936
427 MUTYH NM_025077.4(TOE1):c.2T>C (p.Met1Thr)SNV Uncertain significance 859836 1:45805926-45805926 1:45340254-45340254
428 MUTYH NM_001048174.2(MUTYH):c.1392+6A>GSNV Uncertain significance 862423 1:45796848-45796848 1:45331176-45331176
429 MUTYH NM_001048174.2(MUTYH):c.1103-3C>TSNV Uncertain significance 848036 1:45797231-45797231 1:45331559-45331559
430 MUTYH NM_001048174.2(MUTYH):c.150G>C (p.Gln50His)SNV Uncertain significance 861792 1:45799199-45799199 1:45333527-45333527
431 MUTYH NM_001048174.2(MUTYH):c.125G>A (p.Arg42Lys)SNV Uncertain significance 856487 1:45799224-45799224 1:45333552-45333552
432 MUTYH NM_001048174.2(MUTYH):c.116-10G>ASNV Uncertain significance 842101 1:45799243-45799243 1:45333571-45333571
433 MUTYH NM_001048174.2(MUTYH):c.116-13G>ASNV Uncertain significance 857668 1:45799246-45799246 1:45333574-45333574
434 MUTYH NC_000001.11:g.(?_45329306)_(45343656_?)dupduplication Uncertain significance 831458 1:45794978-45809328
435 MUTYH NC_000001.11:g.(?_45340209)_(45343656_?)dupduplication Uncertain significance 832636 1:45805881-45809328
436 MUTYH NM_001048174.2(MUTYH):c.1536T>G (p.Asp512Glu)SNV Uncertain significance 861057 1:45795008-45795008 1:45329336-45329336
437 MUTYH NM_001048174.2(MUTYH):c.1441A>G (p.Lys481Glu)SNV Uncertain significance 836484 1:45795103-45795103 1:45329431-45329431
438 MUTYH NM_001048174.2(MUTYH):c.1420C>A (p.Pro474Thr)SNV Uncertain significance 839911 1:45796202-45796202 1:45330530-45330530
439 MUTYH NM_001048174.2(MUTYH):c.1376C>G (p.Ser459Cys)SNV Uncertain significance 839195 1:45796870-45796870 1:45331198-45331198
440 MUTYH NM_001048174.2(MUTYH):c.1235G>C (p.Gly412Ala)SNV Uncertain significance 851796 1:45797096-45797096 1:45331424-45331424
441 MUTYH NM_001048174.2(MUTYH):c.1214C>T (p.Ala405Val)SNV Uncertain significance 838145 1:45797117-45797117 1:45331445-45331445
442 MUTYH NM_001048174.2(MUTYH):c.1181A>G (p.Gln394Arg)SNV Uncertain significance 849355 1:45797150-45797150 1:45331478-45331478
443 MUTYH NM_001048174.2(MUTYH):c.1123G>A (p.Glu375Lys)SNV Uncertain significance 850000 1:45797208-45797208 1:45331536-45331536
444 MUTYH NM_001048174.2(MUTYH):c.1114G>A (p.Gly372Arg)SNV Uncertain significance 838705 1:45797217-45797217 1:45331545-45331545
445 MUTYH NM_001048174.2(MUTYH):c.1047G>A (p.Leu349=)SNV Uncertain significance 859077 1:45797388-45797388 1:45331716-45331716
446 MUTYH NM_001048174.2(MUTYH):c.947C>T (p.Pro316Leu)SNV Uncertain significance 838595 1:45797488-45797488 1:45331816-45331816
447 MUTYH NM_001048174.2(MUTYH):c.870A>C (p.Leu290Phe)SNV Uncertain significance 835316 1:45797738-45797738 1:45332066-45332066
448 MUTYH NM_001048174.2(MUTYH):c.780A>G (p.Thr260=)SNV Uncertain significance 841464 1:45797907-45797907 1:45332235-45332235
449 MUTYH NM_001048174.2(MUTYH):c.772G>A (p.Gly258Arg)SNV Uncertain significance 855046 1:45797915-45797915 1:45332243-45332243
450 MUTYH NM_001048174.2(MUTYH):c.769C>G (p.Leu257Val)SNV Uncertain significance 835662 1:45797918-45797918 1:45332246-45332246
451 MUTYH NM_001048174.2(MUTYH):c.763A>C (p.Met255Leu)SNV Uncertain significance 861845 1:45797924-45797924 1:45332252-45332252
452 MUTYH NM_001048174.2(MUTYH):c.733G>C (p.Ala245Pro)SNV Uncertain significance 835707 1:45797954-45797954 1:45332282-45332282
453 MUTYH NM_012222.2(MUTYH):c.533_534delinsTC (p.Ser178Phe)indel Uncertain significance 664805 1:45798468-45798469 1:45332796-45332797
454 MUTYH NM_001128425.1(MUTYH):c.496T>C (p.Ser166Pro)SNV Uncertain significance 654016 1:45798598-45798598 1:45332926-45332926
455 MUTYH NM_001128425.1(MUTYH):c.487G>A (p.Ala163Thr)SNV Uncertain significance 650896 1:45798607-45798607 1:45332935-45332935
456 MUTYH NM_001128425.1(MUTYH):c.451G>C (p.Gly151Arg)SNV Uncertain significance 639290 1:45798780-45798780 1:45333108-45333108
457 MUTYH NM_001128425.1(MUTYH):c.427G>A (p.Ala143Thr)SNV Uncertain significance 657330 1:45798804-45798804 1:45333132-45333132
458 MUTYH NM_001128425.1(MUTYH):c.328G>T (p.Asp110Tyr)SNV Uncertain significance 651229 1:45799105-45799105 1:45333433-45333433
459 MUTYH NM_001128425.1(MUTYH):c.655A>T (p.Thr219Ser)SNV Uncertain significance 657326 1:45798281-45798281 1:45332609-45332609
460 MUTYH NM_001128425.1(MUTYH):c.653A>G (p.Tyr218Cys)SNV Uncertain significance 664027 1:45798283-45798283 1:45332611-45332611
461 MUTYH NM_001128425.1(MUTYH):c.635T>C (p.Leu212Pro)SNV Uncertain significance 662425 1:45798301-45798301 1:45332629-45332629
462 MUTYH NM_001128425.1(MUTYH):c.629A>G (p.Gln210Arg)SNV Uncertain significance 664993 1:45798307-45798307 1:45332635-45332635
463 MUTYH NM_001128425.1(MUTYH):c.763A>G (p.Ser255Gly)SNV Uncertain significance 653491 1:45798088-45798088 1:45332416-45332416
464 MUTYH NM_001128425.1(MUTYH):c.705G>A (p.Val235=)SNV Uncertain significance 649851 1:45798146-45798146 1:45332474-45332474
465 MUTYH NM_001128425.1(MUTYH):c.1507G>T (p.Gly503Trp)SNV Uncertain significance 627803 rs1475081112 1:45796199-45796199 1:45330527-45330527
466 MUTYH NM_001128425.1(MUTYH):c.1103G>C (p.Arg368Thr)SNV Uncertain significance 628055 rs1060501340 1:45797416-45797416 1:45331744-45331744
467 MUTYH NM_001128425.1(MUTYH):c.1097C>A (p.Pro366His)SNV Uncertain significance 631019 rs1557464361 1:45797422-45797422 1:45331750-45331750
468 MUTYH NM_001128425.1(MUTYH):c.1582G>A (p.Val528Ile)SNV Uncertain significance 641259 1:45795046-45795046 1:45329374-45329374
469 MUTYH NM_001128425.1(MUTYH):c.1470G>T (p.Met490Ile)SNV Uncertain significance 650792 1:45796860-45796860 1:45331188-45331188
470 MUTYH NM_001128425.1(MUTYH):c.1307T>A (p.Leu436His)SNV Uncertain significance 655735 1:45797108-45797108 1:45331436-45331436
471 MUTYH NM_001128425.1(MUTYH):c.1286G>A (p.Gly429Glu)SNV Uncertain significance 651596 1:45797129-45797129 1:45331457-45331457
472 MUTYH NM_001128425.1(MUTYH):c.1209G>C (p.Glu403Asp)SNV Uncertain significance 662771 1:45797206-45797206 1:45331534-45331534
473 MUTYH NM_001128425.1(MUTYH):c.1187G>T (p.Gly396Val)SNV Uncertain significance 645786 1:45797228-45797228 1:45331556-45331556
474 MUTYH NM_001128425.1(MUTYH):c.1178C>T (p.Pro393Leu)SNV Uncertain significance 645637 1:45797341-45797341 1:45331669-45331669
475 MUTYH NM_001128425.1(MUTYH):c.1144G>A (p.Ala382Thr)SNV Uncertain significance 641389 1:45797375-45797375 1:45331703-45331703
476 MUTYH NM_001128425.1(MUTYH):c.1115C>G (p.Ser372Cys)SNV Uncertain significance 642680 1:45797404-45797404 1:45331732-45331732
477 MUTYH NM_001128425.1(MUTYH):c.1114T>G (p.Ser372Ala)SNV Uncertain significance 651034 1:45797405-45797405 1:45331733-45331733
478 MUTYH NM_012222.2(MUTYH):c.1086_1087delinsTT (p.Lys362_Pro363delinsAsnSer)indel Uncertain significance 650666 1:45797423-45797424 1:45331751-45331752
479 MUTYH NM_001128425.1(MUTYH):c.1084G>A (p.Ala362Thr)SNV Uncertain significance 659429 1:45797435-45797435 1:45331763-45331763
480 MUTYH NM_001128425.1(MUTYH):c.1066G>A (p.Val356Ile)SNV Uncertain significance 657519 1:45797453-45797453 1:45331781-45331781
481 MUTYH NM_001128425.1(MUTYH):c.1015T>C (p.Cys339Arg)SNV Uncertain significance 652138 1:45797504-45797504 1:45331832-45331832
482 MUTYH NM_001128425.1(MUTYH):c.1003A>G (p.Asn335Asp)SNV Uncertain significance 656859 1:45797516-45797516 1:45331844-45331844
483 MUTYH NM_001128425.1(MUTYH):c.1000C>T (p.Pro334Ser)SNV Uncertain significance 662904 1:45797519-45797519 1:45331847-45331847
484 MUTYH NM_001128425.1(MUTYH):c.956C>T (p.Ala319Val)SNV Uncertain significance 659323 1:45797736-45797736 1:45332064-45332064
485 MUTYH NM_001128425.1(MUTYH):c.900C>G (p.Cys300Trp)SNV Uncertain significance 655768 1:45797871-45797871 1:45332199-45332199
486 MUTYH NM_012222.2(MUTYH):c.857_865del (p.Val286_Pro289delinsAla)deletion Uncertain significance 640844 1:45797897-45797905 1:45332225-45332233
487 MUTYH NM_001128425.1(MUTYH):c.241G>C (p.Val81Leu)SNV Uncertain significance 648908 1:45799192-45799192 1:45333520-45333520
488 MUTYH NM_001128425.1(MUTYH):c.185C>G (p.Pro62Arg)SNV Uncertain significance 657479 1:45799248-45799248 1:45333576-45333576
489 MUTYH NM_001128425.1(MUTYH):c.175G>C (p.Ala59Pro)SNV Uncertain significance 641522 1:45799258-45799258 1:45333586-45333586
490 MUTYH NM_001128425.1(MUTYH):c.89C>T (p.Ala30Val)SNV Uncertain significance 662091 1:45800131-45800131 1:45334459-45334459
491 MUTYH NM_001128425.1(MUTYH):c.73G>A (p.Gly25Ser)SNV Uncertain significance 657571 1:45800147-45800147 1:45334475-45334475
492 MUTYH NM_001128425.1(MUTYH):c.72T>A (p.Ser24Arg)SNV Uncertain significance 666194 1:45800148-45800148 1:45334476-45334476
493 MUTYH NM_001128425.1(MUTYH):c.46A>T (p.Arg16Trp)SNV Uncertain significance 648995 1:45800174-45800174 1:45334502-45334502
494 MUTYH NM_001128425.1(MUTYH):c.45G>A (p.Met15Ile)SNV Uncertain significance 648886 1:45800175-45800175 1:45334503-45334503
495 MUTYH NM_012222.2(MUTYH):c.1315-8_1315-5deldeletion Uncertain significance 665447 1:45797011-45797014 1:45331339-45331342
496 MUTYH NM_001128425.1(MUTYH):c.1519-2A>CSNV Uncertain significance 661635 1:45795111-45795111 1:45329439-45329439
497 MUTYH NM_001128425.1(MUTYH):c.934-10T>ASNV Uncertain significance 654026 1:45797768-45797768 1:45332096-45332096
498 MUTYH NM_001128425.1(MUTYH):c.933+6C>ASNV Uncertain significance 658360 1:45797832-45797832 1:45332160-45332160
499 MUTYH NM_025077.4(TOE1):c.-24C>TSNV Uncertain significance 645927 1:45805901-45805901 1:45340229-45340229
500 MUTYH NM_001048174.2(MUTYH):c.850G>A (p.Val284Met)SNV Uncertain significance 801229 1:45797758-45797758 1:45332086-45332086
501 MUTYH NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro)SNV Uncertain significance 801480 1:45800164-45800164 1:45334492-45334492
502 MUTYH NM_001128425.1(MUTYH):c.1331A>G (p.His444Arg)SNV Uncertain significance 142069 rs144309934 1:45796999-45796999 1:45331327-45331327
503 MUTYH NM_001128425.1(MUTYH):c.1477G>A (p.Val493Ile)SNV Uncertain significance 142092 rs587782228 1:45796229-45796229 1:45330557-45330557
504 MUTYH NM_001128425.1(MUTYH):c.1114T>C (p.Ser372Pro)SNV Uncertain significance 142136 rs587782261 1:45797405-45797405 1:45331733-45331733
505 MUTYH NM_001048171.1(MUTYH):c.1423G>A (p.Ala475Thr)SNV Uncertain significance 142138 rs587782263 1:45796865-45796865 1:45331193-45331193
506 MUTYH NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)SNV Uncertain significance 142271 rs587782351 1:45798157-45798157 1:45332485-45332485
507 MUTYH NM_001048171.1(MUTYH):c.1351C>G (p.Pro451Ala)SNV Uncertain significance 141925 rs375597447 1:45796937-45796937 1:45331265-45331265
508 MUTYH NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro)SNV Uncertain significance 141400 rs538383136 1:45798328-45798328 1:45332656-45332656
509 MUTYH NM_001128425.1(MUTYH):c.1009G>A (p.Gly337Arg)SNV Uncertain significance 142402 rs587782438 1:45797510-45797510 1:45331838-45331838
510 MUTYH NM_001048171.1(MUTYH):c.1442G>A (p.Arg481His)SNV Uncertain significance 142440 rs144111588 1:45796222-45796222 1:45330550-45330550
511 MUTYH NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=)SNV Uncertain significance 142583 rs587782564 1:45797092-45797092 1:45331420-45331420
512 MUTYH NM_001128425.1(MUTYH):c.347G>A (p.Arg116Gln)SNV Uncertain significance 142736 rs587782683 1:45799086-45799086 1:45333414-45333414
513 MUTYH NM_001128425.1(MUTYH):c.1228G>A (p.Glu410Lys)SNV Uncertain significance 142747 rs587782690 1:45797187-45797187 1:45331515-45331515
514 MUTYH NM_001048171.1(MUTYH):c.80G>A (p.Arg27Lys)SNV Uncertain significance 142751 rs587782693 1:45800140-45800140 1:45334468-45334468
515 MUTYH NM_001128425.1(MUTYH):c.926G>A (p.Arg309His)SNV Uncertain significance 142801 rs587782727 1:45797845-45797845 1:45332173-45332173
516 MUTYH NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)SNV Uncertain significance 141614 rs192816572 1:45796913-45796913 1:45331241-45331241
517 MUTYH NM_001128425.1(MUTYH):c.874C>T (p.Pro292Ser)SNV Uncertain significance 141703 rs587781949 1:45797897-45797897 1:45332225-45332225
518 MUTYH NM_001128425.1(MUTYH):c.376C>T (p.Arg126Trp)SNV Uncertain significance 141830 rs587782041 1:45798969-45798969 1:45333297-45333297
519 MUTYH NM_001048171.1(MUTYH):c.1264C>G (p.Leu422Val)SNV Uncertain significance 141833 rs587782043 1:45797109-45797109 1:45331437-45331437
520 MUTYH NM_001048171.1(MUTYH):c.1214C>A (p.Ala405Asp)SNV Uncertain significance 141858 rs369299948 1:45797159-45797159 1:45331487-45331487
521 MUTYH NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)SNV Uncertain significance 141306 rs587781645 1:45798348-45798348 1:45332676-45332676
522 MUTYH NM_001128425.1(MUTYH):c.1483C>T (p.Arg495Cys)SNV Uncertain significance 141339 rs587781668 1:45796223-45796223 1:45330551-45330551
523 MUTYH NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)SNV Uncertain significance 140830 rs147754007 1:45798286-45798286 1:45332614-45332614
524 MUTYH NM_001128425.1(MUTYH):c.749G>A (p.Gly250Asp)SNV Uncertain significance 141145 rs587781529 1:45798102-45798102 1:45332430-45332430
525 MUTYH NM_001128425.1(MUTYH):c.1235C>T (p.Ser412Leu)SNV Uncertain significance 141150 rs587781533 1:45797180-45797180 1:45331508-45331508
526 MUTYH NM_001048171.1(MUTYH):c.1030T>C (p.Phe344Leu)SNV Uncertain significance 141246 rs587781601 1:45797447-45797447 1:45331775-45331775
527 MUTYH NM_001048171.1(MUTYH):c.158-33G>TSNV Uncertain significance 140924 rs587781374 1:45799266-45799266 1:45333594-45333594
528 MUTYH NM_001048171.1(MUTYH):c.1444G>A (p.Val482Met)SNV Uncertain significance 140942 rs587781385 1:45796220-45796220 1:45330548-45330548
529 MUTYH NM_001128425.1(MUTYH):c.377G>A (p.Arg126Gln)SNV Uncertain significance 141028 rs587781444 1:45798968-45798968 1:45333296-45333296
530 MUTYH NM_001128425.1(MUTYH):c.497C>T (p.Ser166Phe)SNV Uncertain significance 127844 rs587780087 1:45798597-45798597 1:45332925-45332925
531 MUTYH NM_001048171.1(MUTYH):c.794A>C (p.Asn265Thr)SNV Uncertain significance 134857 rs587778534 1:45797935-45797935 1:45332263-45332263
532 MUTYH NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)SNV Uncertain significance 127847 rs200872702 1:45798269-45798269 1:45332597-45332597
533 MUTYH NM_001128425.1(MUTYH):c.1091G>A (p.Arg364His)SNV Uncertain significance 135980 rs587780741 1:45797428-45797428 1:45331756-45331756
534 MUTYH NM_001048174.2(MUTYH):c.1012C>T (p.Pro338Ser)SNV Uncertain significance 73819 rs267598622 1:45797423-45797423 1:45331751-45331751
535 MUTYH NM_001048171.1(MUTYH):c.958C>A (p.Pro320Thr)SNV Uncertain significance 134861 rs587778537 1:45797519-45797519 1:45331847-45331847
536 MUTYH NM_001048171.1(MUTYH):c.995C>T (p.Ser332Leu)SNV Uncertain significance 134862 rs587778538 1:45797482-45797482 1:45331810-45331810
537 MUTYH NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)SNV Uncertain significance 134863 rs587778539 1:45797378-45797378 1:45331706-45331706
538 MUTYH NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)SNV Uncertain significance 134864 rs587778540 1:45797106-45797106 1:45331434-45331434
539 MUTYH NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)SNV Uncertain significance 134866 rs3219494 1:45796198-45796198 1:45330526-45330526
540 MUTYH NM_001048171.1(MUTYH):c.1213G>A (p.Ala405Thr)SNV Uncertain significance 135983 rs587780744 1:45797160-45797160 1:45331488-45331488
541 MUTYH NM_001128425.1(MUTYH):c.1316T>C (p.Leu439Pro)SNV Uncertain significance 135984 rs587780745 1:45797099-45797099 1:45331427-45331427
542 MUTYH NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)SNV Uncertain significance 135986 rs587780746 1:45799120-45799120 1:45333448-45333448
543 MUTYH NM_001048171.1(MUTYH):c.38C>T (p.Ala13Val)SNV Uncertain significance 135987 rs587780747 1:45800182-45800182 1:45334510-45334510
544 MUTYH NM_001048171.1(MUTYH):c.565C>T (p.Arg189Cys)SNV Uncertain significance 135988 rs587780748 1:45798329-45798329 1:45332657-45332657
545 MUTYH NM_001128425.1(MUTYH):c.1250G>A (p.Arg417His)SNV Uncertain significance 140791 rs373803765 1:45797165-45797165 1:45331493-45331493
546 MUTYH NM_001048171.1(MUTYH):c.1261C>T (p.His421Tyr)SNV Uncertain significance 140816 rs141432759 1:45797112-45797112 1:45331440-45331440
547 MUTYH NM_001128425.1(MUTYH):c.686G>A (p.Gly229Asp)SNV Uncertain significance 186889 rs752114814 1:45798250-45798250 1:45332578-45332578
548 MUTYH NM_001048171.1(MUTYH):c.634A>G (p.Ile212Val)SNV Uncertain significance 185072 rs200965879 1:45798260-45798260 1:45332588-45332588
549 MUTYH NM_001128425.1(MUTYH):c.797C>G (p.Ala266Gly)SNV Uncertain significance 186750 rs750344996 1:45797974-45797974 1:45332302-45332302
550 MUTYH NM_001128425.1(MUTYH):c.724G>T (p.Val242Leu)SNV Uncertain significance 185462 rs769766446 1:45798127-45798127 1:45332455-45332455
551 MUTYH NM_001048171.1(MUTYH):c.529C>T (p.Arg177Trp)SNV Uncertain significance 186056 rs761101420 1:45798440-45798440 1:45332768-45332768
552 MUTYH NM_001128425.1(MUTYH):c.560A>G (p.Gln187Arg)SNV Uncertain significance 185772 rs757503642 1:45798451-45798451 1:45332779-45332779
553 MUTYH NM_001048171.1(MUTYH):c.509G>A (p.Arg170Gln)SNV Uncertain significance 187723 rs758567247 1:45798460-45798460 1:45332788-45332788
554 MUTYH NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)SNV Uncertain significance 187318 rs779997419 1:45798461-45798461 1:45332789-45332789
555 MUTYH NM_001128425.1(MUTYH):c.545G>T (p.Arg182Leu)SNV Uncertain significance 185441 rs143353451 1:45798466-45798466 1:45332794-45332794
556 MUTYH NM_001048171.1(MUTYH):c.673G>A (p.Val225Ile)SNV Uncertain significance 187628 rs759295912 1:45798136-45798136 1:45332464-45332464
557 MUTYH NM_001048171.1(MUTYH):c.772C>T (p.Pro258Ser)SNV Uncertain significance 184896 rs786201772 1:45797957-45797957 1:45332285-45332285
558 MUTYH NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)SNV Uncertain significance 184447 rs537292657 1:45798287-45798287 1:45332615-45332615
559 MUTYH NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys)SNV Uncertain significance 185272 rs773370513 1:45797166-45797166 1:45331494-45331494
560 MUTYH NM_001128425.1(MUTYH):c.1435G>A (p.Glu479Lys)SNV Uncertain significance 186129 rs376790729 1:45796895-45796895 1:45331223-45331223
561 MUTYH NM_001048171.1(MUTYH):c.995C>G (p.Ser332Trp)SNV Uncertain significance 185982 rs587778538 1:45797482-45797482 1:45331810-45331810
562 MUTYH NM_001128425.1(MUTYH):c.1000C>G (p.Pro334Ala)SNV Uncertain significance 183823 rs587778537 1:45797519-45797519 1:45331847-45331847
563 MUTYH NM_001128425.1(MUTYH):c.998-5C>GSNV Uncertain significance 187309 rs786203632 1:45797526-45797526 1:45331854-45331854
564 MUTYH NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)SNV Uncertain significance 184935 rs147718169 1:45797707-45797707 1:45332035-45332035
565 MUTYH NM_001128425.1(MUTYH):c.919C>T (p.Arg307Trp)SNV Uncertain significance 186405 rs759822330 1:45797852-45797852 1:45332180-45332180
566 MUTYH NM_001128425.1(MUTYH):c.1421G>A (p.Arg474His)SNV Uncertain significance 187172 rs764276907 1:45796909-45796909 1:45331237-45331237
567 MUTYH NM_001128425.1(MUTYH):c.1414G>C (p.Gly472Arg)SNV Uncertain significance 186417 rs758262369 1:45796916-45796916 1:45331244-45331244
568 MUTYH NM_001048171.1(MUTYH):c.1363G>A (p.Val455Ile)SNV Uncertain significance 186723 rs779701238 1:45796925-45796925 1:45331253-45331253
569 MUTYH NM_001128425.1(MUTYH):c.1555C>T (p.Arg519Trp)SNV Uncertain significance 187354 rs754364718 1:45795073-45795073 1:45329401-45329401
570 MUTYH NM_001048171.1(MUTYH):c.1546G>C (p.Asp516His)SNV Uncertain significance 186948 rs147923905 1:45795040-45795040 1:45329368-45329368
571 MUTYH NM_001128425.1(MUTYH):c.1622C>T (p.Ala541Val)SNV Uncertain significance 185177 rs751053826 1:45795006-45795006 1:45329334-45329334
572 MUTYH NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)SNV Uncertain significance 182694 rs149342980 1:45797839-45797839 1:45332167-45332167
573 MUTYH NM_001128425.1(MUTYH):c.1588G>T (p.Asp530Tyr)SNV Uncertain significance 182685 rs147923905 1:45795040-45795040 1:45329368-45329368
574 MUTYH NM_001048171.1(MUTYH):c.838C>T (p.Arg280Cys)SNV Uncertain significance 182692 rs199840380 1:45797891-45797891 1:45332219-45332219
575 MUTYH NM_001128425.1(MUTYH):c.482A>T (p.Asp161Val)SNV Uncertain significance 141948 rs587782132 1:45798612-45798612 1:45332940-45332940
576 MUTYH NM_001048171.1(MUTYH):c.924C>G (p.Ser308Arg)SNV Uncertain significance 141970 rs138833473 1:45797726-45797726 1:45332054-45332054
577 MUTYH NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys)SNV Uncertain significance 156508 rs151316420 1:45797429-45797429 1:45331757-45331757
578 MUTYH NM_001128425.1(MUTYH):c.346C>T (p.Arg116Trp)SNV Uncertain significance 142812 rs373766973 1:45799087-45799087 1:45333415-45333415
579 MUTYH NM_001048171.1(MUTYH):c.803C>T (p.Ala268Val)SNV Uncertain significance 142849 rs587782764 1:45797926-45797926 1:45332254-45332254
580 MUTYH NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)SNV Uncertain significance 142860 rs587782773 1:45797444-45797444 1:45331772-45331772
581 MUTYH NM_001048171.1(MUTYH):c.1452G>C (p.Gln484His)SNV Uncertain significance 142884 rs587782794 1:45796212-45796212 1:45330540-45330540
582 MUTYH NM_025077.4(TOE1):c.-15G>TSNV Uncertain significance 142941 rs587782837 1:45805910-45805910 1:45340238-45340238
583 MUTYH NM_001128425.1(MUTYH):c.1518+4A>GSNV Uncertain significance 229995 rs876658323 1:45796184-45796184 1:45330512-45330512
584 MUTYH NM_001128425.1(MUTYH):c.1513T>C (p.Cys505Arg)SNV Uncertain significance 232004 rs876659488 1:45796193-45796193 1:45330521-45330521
585 MUTYH NM_001128425.1(MUTYH):c.1421G>C (p.Arg474Pro)SNV Uncertain significance 232935 rs764276907 1:45796909-45796909 1:45331237-45331237
586 MUTYH NM_001128425.1(MUTYH):c.1394C>T (p.Pro465Leu)SNV Uncertain significance 233870 rs876660697 1:45796936-45796936 1:45331264-45331264
587 MUTYH NM_001048171.1(MUTYH):c.1235G>T (p.Arg412Leu)SNV Uncertain significance 233962 rs748700385 1:45797138-45797138 1:45331466-45331466
588 MUTYH NM_001128425.1(MUTYH):c.1219G>A (p.Val407Met)SNV Uncertain significance 233638 rs876660539 1:45797196-45797196 1:45331524-45331524
589 MUTYH NM_001128425.1(MUTYH):c.1153G>T (p.Ala385Ser)SNV Uncertain significance 231570 rs876659232 1:45797366-45797366 1:45331694-45331694
590 MUTYH NM_001128425.1(MUTYH):c.1099C>G (p.Pro367Ala)SNV Uncertain significance 233206 rs876660262 1:45797420-45797420 1:45331748-45331748
591 MUTYH NM_001128425.1(MUTYH):c.1007C>T (p.Thr336Ile)SNV Uncertain significance 232478 rs876659790 1:45797512-45797512 1:45331840-45331840
592 MUTYH NM_001128425.1(MUTYH):c.1004A>G (p.Asn335Ser)SNV Uncertain significance 230503 rs765808018 1:45797515-45797515 1:45331843-45331843
593 MUTYH NM_001128425.1(MUTYH):c.388+6T>CSNV Uncertain significance 219392 rs864622067 1:45798951-45798951 1:45333279-45333279
594 MUTYH NM_001128425.1(MUTYH):c.737T>C (p.Val246Ala)SNV Uncertain significance 219485 rs864622114 1:45798114-45798114 1:45332442-45332442
595 MUTYH NM_001128425.1(MUTYH):c.513T>A (p.Asn171Lys)SNV Uncertain significance 219768 rs864622242 1:45798498-45798498 1:45332826-45332826
596 MUTYH NM_001128425.1(MUTYH):c.1411C>A (p.Pro471Thr)SNV Uncertain significance 219673 rs864622204 1:45796919-45796919 1:45331247-45331247
597 MUTYH NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)SNV Uncertain significance 220923 rs144079536 1:45797157-45797157 1:45331485-45331485
598 MUTYH NM_001128425.1(MUTYH):c.1252A>G (p.Lys418Glu)SNV Uncertain significance 220836 rs864622671 1:45797163-45797163 1:45331491-45331491
599 MUTYH NM_001128425.1(MUTYH):c.(?_-1)_(*1_?)dupduplication Uncertain significance 216516
600 MUTYH NM_001128425.1(MUTYH):c.909G>T (p.Glu303Asp)SNV Uncertain significance 216523 rs863224700 1:45797862-45797862 1:45332190-45332190
601 MUTYH NM_001128425.1(MUTYH):c.786C>T (p.Leu262=)SNV Uncertain significance 216522 rs863224699 1:45798065-45798065 1:45332393-45332393
602 MUTYH NM_001128425.1(MUTYH):c.305G>A (p.Ser102Asn)SNV Uncertain significance 216519 rs863224697 1:45799128-45799128 1:45333456-45333456
603 MUTYH NM_001128425.1(MUTYH):c.98A>C (p.Gln33Pro)SNV Uncertain significance 216525 rs863224701 1:45800122-45800122 1:45334450-45334450
604 MUTYH NM_001128425.1(MUTYH):c.37G>A (p.Ala13Thr)SNV Uncertain significance 216520 rs375349172 1:45800183-45800183 1:45334511-45334511
605 MUTYH NM_001128425.1(MUTYH):c.1255G>C (p.Ala419Pro)SNV Uncertain significance 216518 rs587780744 1:45797160-45797160 1:45331488-45331488
606 MUTYH NM_001128425.1(MUTYH):c.1570A>G (p.Met524Val)SNV Uncertain significance 188079 rs587780080 1:45795058-45795058 1:45329386-45329386
607 MUTYH NM_001048171.1(MUTYH):c.1388C>T (p.Thr463Met)SNV Uncertain significance 188159 rs767747402 1:45796900-45796900 1:45331228-45331228
608 MUTYH NM_001048171.1(MUTYH):c.875G>A (p.Cys292Tyr)SNV Uncertain significance 188158 rs786204112 1:45797854-45797854 1:45332182-45332182
609 MUTYH NM_001128425.1(MUTYH):c.859G>A (p.Ala287Thr)SNV Uncertain significance 188122 rs786204085 1:45797912-45797912 1:45332240-45332240
610 MUTYH NM_012222.2(MUTYH):c.1489_1493inv (p.Gln497_Gln498delinsCysTrp)inversion Uncertain significance 216871 1:45796204-45796208 1:45330532-45330536
611 MUTYH NM_001128425.1(MUTYH):c.95G>T (p.Ser32Ile)SNV Uncertain significance 186378 rs786202903 1:45800125-45800125 1:45334453-45334453
612 MUTYH NM_001048171.1(MUTYH):c.158-33G>ASNV Uncertain significance 185629 rs587781374 1:45799266-45799266 1:45333594-45333594
613 MUTYH NM_001128425.1(MUTYH):c.449C>T (p.Thr150Ile)SNV Uncertain significance 185033 rs745507536 1:45798782-45798782 1:45333110-45333110
614 MUTYH NM_001128425.1(MUTYH):c.440A>G (p.Asn147Ser)SNV Uncertain significance 186207 rs771641237 1:45798791-45798791 1:45333119-45333119
615 MUTYH NM_001048171.1(MUTYH):c.469A>G (p.Asn157Asp)SNV Uncertain significance 186535 rs773674701 1:45798500-45798500 1:45332828-45332828
616 MUTYH NM_001128425.1(MUTYH):c.394G>A (p.Val132Ile)SNV Uncertain significance 185604 rs763273196 1:45798837-45798837 1:45333165-45333165
617 MUTYH NM_001128425.1(MUTYH):c.613G>A (p.Ala205Thr)SNV Uncertain significance 185309 rs759988845 1:45798323-45798323 1:45332651-45332651
618 MUTYH NM_001128425.1(MUTYH):c.607C>G (p.Arg203Gly)SNV Uncertain significance 187351 rs587780748 1:45798329-45798329 1:45332657-45332657
619 MUTYH NM_001048171.1(MUTYH):c.451G>A (p.Ala151Thr)SNV Uncertain significance 185959 rs201103359 1:45798601-45798601 1:45332929-45332929
620 MUTYH NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)SNV Uncertain significance 233334 rs764458059 1:45798443-45798443 1:45332771-45332771
621 MUTYH NM_001128425.1(MUTYH):c.542C>T (p.Ser181Phe)SNV Uncertain significance 231020 rs876658906 1:45798469-45798469 1:45332797-45332797
622 MUTYH NM_001128425.1(MUTYH):c.507G>C (p.Glu169Asp)SNV Uncertain significance 230524 rs764546111 1:45798504-45798504 1:45332832-45332832
623 MUTYH NM_001128425.1(MUTYH):c.504G>A (p.Glu168=)SNV Uncertain significance 230572 rs876658641 1:45798590-45798590 1:45332918-45332918
624 MUTYH NM_001128425.1(MUTYH):c.475C>A (p.Leu159Met)SNV Uncertain significance 232997 rs199862273 1:45798619-45798619 1:45332947-45332947
625 MUTYH NM_001128425.1(MUTYH):c.433G>C (p.Val145Leu)SNV Uncertain significance 234007 rs876660791 1:45798798-45798798 1:45333126-45333126
626 MUTYH NM_001128425.1(MUTYH):c.395T>A (p.Val132Asp)SNV Uncertain significance 234028 rs876660804 1:45798836-45798836 1:45333164-45333164
627 MUTYH NM_001128425.1(MUTYH):c.383A>G (p.Tyr128Cys)SNV Uncertain significance 233751 rs876660615 1:45798962-45798962 1:45333290-45333290
628 MUTYH NM_001128425.1(MUTYH):c.379G>A (p.Ala127Thr)SNV Uncertain significance 230457 rs746112825 1:45798966-45798966 1:45333294-45333294
629 MUTYH NM_001128425.1(MUTYH):c.337T>A (p.Trp113Arg)SNV Uncertain significance 230915 rs776719541 1:45799096-45799096 1:45333424-45333424
630 MUTYH NM_001128425.1(MUTYH):c.322A>G (p.Lys108Glu)SNV Uncertain significance 229857 rs876658237 1:45799111-45799111 1:45333439-45333439
631 MUTYH NM_001128425.1(MUTYH):c.256C>G (p.Leu86Val)SNV Uncertain significance 231242 rs781163298 1:45799177-45799177 1:45333505-45333505
632 MUTYH NM_001128425.1(MUTYH):c.245C>A (p.Ser82Tyr)SNV Uncertain significance 230578 rs876658645 1:45799188-45799188 1:45333516-45333516
633 MUTYH NM_001128425.1(MUTYH):c.244T>C (p.Ser82Pro)SNV Uncertain significance 231029 rs773198648 1:45799189-45799189 1:45333517-45333517
634 MUTYH NM_001128425.1(MUTYH):c.215C>T (p.Pro72Leu)SNV Uncertain significance 233129 rs759140181 1:45799218-45799218 1:45333546-45333546
635 MUTYH NM_001128425.1(MUTYH):c.933A>T (p.Arg311Ser)SNV Uncertain significance 232151 rs369973885 1:45797838-45797838 1:45332166-45332166
636 MUTYH NM_001128425.1(MUTYH):c.912C>G (p.Ser304Arg)SNV Uncertain significance 230638 rs767805597 1:45797859-45797859 1:45332187-45332187
637 MUTYH NM_001128425.1(MUTYH):c.1596C>A (p.Phe532Leu)SNV Uncertain significance 231635 rs768671057 1:45795032-45795032 1:45329360-45329360
638 MUTYH NM_001128425.1(MUTYH):c.875C>A (p.Pro292Gln)SNV Uncertain significance 232854 rs780500491 1:45797896-45797896 1:45332224-45332224
639 MUTYH NM_001128425.1(MUTYH):c.608G>A (p.Arg203His)SNV Uncertain significance 230143 rs538383136 1:45798328-45798328 1:45332656-45332656
640 MUTYH NM_001128425.1(MUTYH):c.736G>A (p.Val246Ile)SNV Uncertain significance 233479 rs587780749 1:45798115-45798115 1:45332443-45332443
641 MUTYH NM_001128425.1(MUTYH):c.731G>A (p.Cys244Tyr)SNV Uncertain significance 230038 rs375346290 1:45798120-45798120 1:45332448-45332448
642 MUTYH NM_001128425.1(MUTYH):c.724G>A (p.Val242Met)SNV Uncertain significance 233587 rs769766446 1:45798127-45798127 1:45332455-45332455
643 MUTYH NM_001128425.1(MUTYH):c.680C>T (p.Ala227Val)SNV Uncertain significance 230300 rs11545695 1:45798256-45798256 1:45332584-45332584
644 MUTYH NM_001048171.1(MUTYH):c.637G>A (p.Ala213Thr)SNV Uncertain significance 229778 rs369854269 1:45798257-45798257 1:45332585-45332585
645 MUTYH NM_001128425.1(MUTYH):c.647G>A (p.Gly216Glu)SNV Uncertain significance 231491 rs768553551 1:45798289-45798289 1:45332617-45332617
646 MUTYH NM_001128425.1(MUTYH):c.631C>T (p.Leu211Phe)SNV Uncertain significance 233048 rs876660154 1:45798305-45798305 1:45332633-45332633
647 MUTYH NM_012222.2(MUTYH):c.*34_*36GTT[1]short repeat Uncertain significance 297466 rs373507005 1:45794939-45794941 1:45329267-45329269
648 MUTYH NM_001048171.1(MUTYH):c.1095G>A (p.Gln365=)SNV Uncertain significance 297469 rs886046366 1:45797382-45797382 1:45331710-45331710
649 MUTYH NM_001048171.1(MUTYH):c.1477-5C>ASNV Uncertain significance 297467 rs886046365 1:45795114-45795114 1:45329442-45329442
650 MUTYH NM_001048171.1(MUTYH):c.97C>T (p.Gln33Ter)SNV Uncertain significance 297471 rs886046367 1:45800123-45800123 1:45334451-45334451
651 MUTYH NM_025077.4(TOE1):c.52+50G>TSNV Uncertain significance 297473 rs533908646 1:45806026-45806026 1:45340354-45340354
652 MUTYH NM_025077.4(TOE1):c.-29G>CSNV Uncertain significance 238344 rs878854188 1:45805896-45805896 1:45340224-45340224
653 MUTYH NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)SNV Uncertain significance 246011 rs754178539 1:45797449-45797449 1:45331777-45331777
654 MUTYH NM_001128425.1(MUTYH):c.1043C>T (p.Pro348Leu)SNV Uncertain significance 245998 rs780178101 1:45797476-45797476 1:45331804-45331804
655 MUTYH NM_001128425.1(MUTYH):c.893G>A (p.Ser298Asn)SNV Uncertain significance 246503 rs757080586 1:45797878-45797878 1:45332206-45332206
656 MUTYH NM_001128425.1(MUTYH):c.670G>A (p.Ala224Thr)SNV Uncertain significance 238351 rs878854192 1:45798266-45798266 1:45332594-45332594
657 MUTYH NM_001128425.1(MUTYH):c.148G>A (p.Ala50Thr)SNV Uncertain significance 233557 rs876660488 1:45800072-45800072 1:45334400-45334400
658 MUTYH NM_001128425.1(MUTYH):c.950T>C (p.Leu317Pro)SNV Uncertain significance 238355 rs878854195 1:45797742-45797742 1:45332070-45332070
659 MUTYH NM_001128425.1(MUTYH):c.103G>A (p.Gly35Arg)SNV Uncertain significance 230749 rs876658745 1:45800117-45800117 1:45334445-45334445
660 MUTYH NM_001128425.1(MUTYH):c.71G>A (p.Ser24Asn)SNV Uncertain significance 231412 rs876659143 1:45800149-45800149 1:45334477-45334477
661 MUTYH NM_001128425.1(MUTYH):c.37-5T>GSNV Uncertain significance 233892 rs876660715 1:45800188-45800188 1:45334516-45334516
662 MUTYH NM_025077.4(TOE1):c.-39C>TSNV Uncertain significance 230475 rs876658588 1:45805886-45805886 1:45340214-45340214
663 MUTYH NM_025077.4(TOE1):c.-37T>ASNV Uncertain significance 234074 rs759654665 1:45805888-45805888 1:45340216-45340216
664 MUTYH NM_025077.4(TOE1):c.-15G>CSNV Uncertain significance 230893 rs587782837 1:45805910-45805910 1:45340238-45340238
665 MUTYH NM_025077.4(TOE1):c.-6G>ASNV Uncertain significance 233944 rs745424307 1:45805919-45805919 1:45340247-45340247
666 MUTYH NM_025077.4(TOE1):c.1A>G (p.Met1Val)SNV Uncertain significance 230848 rs865954220 1:45805925-45805925 1:45340253-45340253
667 MUTYH NM_001048171.1(MUTYH):c.1495G>T (p.Val499Leu)SNV Uncertain significance 238340 rs780209880 1:45795091-45795091 1:45329419-45329419
668 MUTYH NM_001128425.1(MUTYH):c.1513T>G (p.Cys505Gly)SNV Uncertain significance 238339 rs876659488 1:45796193-45796193 1:45330521-45330521
669 MUTYH NM_001128425.1(MUTYH):c.1476G>C (p.Lys492Asn)SNV Uncertain significance 238338 rs878854185 1:45796854-45796854 1:45331182-45331182
670 MUTYH NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu)SNV Uncertain significance 238334 rs878854183 1:45797363-45797363 1:45331691-45331691
671 MUTYH NM_001128425.1(MUTYH):c.1132G>A (p.Glu378Lys)SNV Uncertain significance 238333 rs772113192 1:45797387-45797387 1:45331715-45331715
672 MUTYH NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val)SNV Uncertain significance 371682 rs1057517460 1:45800158-45800158 1:45334486-45334486
673 MUTYH NM_001128425.1(MUTYH):c.541T>G (p.Ser181Ala)SNV Uncertain significance 238348 rs769684812 1:45798470-45798470 1:45332798-45332798
674 MUTYH NM_025077.4(TOE1):c.52+127A>GSNV Uncertain significance 297474 rs567826303 1:45806103-45806103 1:45340431-45340431
675 MUTYH NM_001128425.1(MUTYH):c.179A>G (p.Glu60Gly)SNV Uncertain significance 238343 rs878854187 1:45799254-45799254 1:45333582-45333582
676 MUTYH NM_001048171.1(MUTYH):c.956-27G>ASNV Likely benign 371680 rs188830619 1:45797548-45797548 1:45331876-45331876
677 MUTYH NM_001048171.1(MUTYH):c.369G>A (p.Leu123=)SNV Likely benign 371679 rs1057517458 1:45798820-45798820 1:45333148-45333148
678 MUTYH NM_001128425.1(MUTYH):c.157+9C>ASNV Likely benign 386326 rs1057522475 1:45800054-45800054 1:45334382-45334382
679 MUTYH NM_001128425.1(MUTYH):c.788+9T>CSNV Likely benign 378184 rs143091801 1:45798054-45798054 1:45332382-45332382
680 MUTYH NM_001128425.1(MUTYH):c.678C>T (p.Ile226=)SNV Likely benign 379035 rs371875647 1:45798258-45798258 1:45332586-45332586
681 MUTYH NM_025077.4(TOE1):c.-54G>CSNV Likely benign 371683 rs540793556 1:45805871-45805871 1:45340199-45340199
682 MUTYH NM_001128425.1(MUTYH):c.267C>T (p.Asp89=)SNV Likely benign 383376 rs538419476 1:45799166-45799166 1:45333494-45333494
683 MUTYH NM_001048171.1(MUTYH):c.1435-17C>GSNV Likely benign 378185 rs199664013 1:45796246-45796246 1:45330574-45330574
684 MUTYH NM_001128425.1(MUTYH):c.1608C>T (p.His536=)SNV Likely benign 392421 rs779326923 1:45795020-45795020 1:45329348-45329348
685 MUTYH NM_001048171.1(MUTYH):c.534+20G>ASNV Likely benign 381785 rs776504435 1:45798415-45798415 1:45332743-45332743
686 MUTYH NM_001128425.1(MUTYH):c.349-7T>CSNV Likely benign 378182 rs1034878313 1:45799003-45799003 1:45333331-45333331
687 MUTYH NM_001128425.1(MUTYH):c.1086C>T (p.Ala362=)SNV Likely benign 238332 rs878854182 1:45797433-45797433 1:45331761-45331761
688 MUTYH NM_001128425.1(MUTYH):c.793C>T (p.Leu265=)SNV Likely benign 238354 rs878854194 1:45797978-45797978 1:45332306-45332306
689 MUTYH NM_001128425.1(MUTYH):c.788+7T>ASNV Likely benign 238353 rs369052315 1:45798056-45798056 1:45332384-45332384
690 MUTYH NM_001128425.1(MUTYH):c.576+8G>CSNV Likely benign 238350 rs190500741 1:45798427-45798427 1:45332755-45332755
691 MUTYH NM_001128425.1(MUTYH):c.465G>A (p.Lys155=)SNV Likely benign 238346 rs878854190 1:45798629-45798629 1:45332957-45332957
692 MUTYH NM_001128425.1(MUTYH):c.855A>G (p.Leu285=)SNV Likely benign 230321 rs876658503 1:45797916-45797916 1:45332244-45332244
693 MUTYH NM_001128425.1(MUTYH):c.1593T>C (p.Asn531=)SNV Likely benign 231253 rs876659054 1:45795035-45795035 1:45329363-45329363
694 MUTYH NM_001128425.1(MUTYH):c.165A>C (p.Ala55=)SNV Likely benign 231138 rs751914222 1:45799268-45799268 1:45333596-45333596
695 MUTYH NM_001048171.1(MUTYH):c.324C>T (p.Asp108=)SNV Likely benign 233585 rs876660505 1:45798979-45798979 1:45333307-45333307
696 MUTYH NM_001128425.1(MUTYH):c.474A>T (p.Thr158=)SNV Likely benign 184965 rs780182847 1:45798620-45798620 1:45332948-45332948
697 MUTYH NM_001128425.1(MUTYH):c.450C>T (p.Thr150=)SNV Likely benign 187674 rs368383907 1:45798781-45798781 1:45333109-45333109
698 MUTYH NM_001048171.1(MUTYH):c.483T>C (p.Ala161=)SNV Likely benign 184238 rs786201352 1:45798486-45798486 1:45332814-45332814
699 MUTYH NM_001128425.1(MUTYH):c.409C>T (p.Leu137=)SNV Likely benign 184168 rs368963039 1:45798822-45798822 1:45333150-45333150
700 MUTYH NM_001128425.1(MUTYH):c.258A>G (p.Leu86=)SNV Likely benign 184392 rs786201439 1:45799175-45799175 1:45333503-45333503
701 MUTYH NM_001128425.1(MUTYH):c.249A>T (p.Ser83=)SNV Likely benign 187750 rs786203971 1:45799184-45799184 1:45333512-45333512
702 MUTYH NM_001048171.1(MUTYH):c.180G>A (p.Glu60=)SNV Likely benign 187549 rs376861118 1:45799211-45799211 1:45333539-45333539
703 MUTYH NM_001048171.1(MUTYH):c.174G>A (p.Pro58=)SNV Likely benign 184132 rs144551668 1:45799217-45799217 1:45333545-45333545
704 MUTYH NM_001128425.1(MUTYH):c.78C>T (p.His26=)SNV Likely benign 186978 rs776396492 1:45800142-45800142 1:45334470-45334470
705 MUTYH NM_001048171.1(MUTYH):c.63C>T (p.Ala21=)SNV Likely benign 186528 rs201982344 1:45800157-45800157 1:45334485-45334485
706 MUTYH NM_001128425.1(MUTYH):c.120T>A (p.Ala40=)SNV Likely benign 184418 rs199968813 1:45800100-45800100 1:45334428-45334428
707 MUTYH NM_001128425.1(MUTYH):c.1074C>T (p.Phe358=)SNV Likely benign 215796 rs863224381 1:45797445-45797445 1:45331773-45331773
708 MUTYH NM_001128425.1(MUTYH):c.981T>C (p.Pro327=)SNV Likely benign 215798 rs149334084 1:45797711-45797711 1:45332039-45332039
709 MUTYH NM_001128425.1(MUTYH):c.1182C>T (p.Asn394=)SNV Likely benign 219604 rs749902808 1:45797337-45797337 1:45331665-45331665
710 MUTYH NM_001128425.1(MUTYH):c.300G>A (p.Leu100=)SNV Likely benign 219876 rs766958451 1:45799133-45799133 1:45333461-45333461
711 MUTYH NM_001128425.1(MUTYH):c.987G>C (p.Val329=)SNV Likely benign 231875 rs749048388 1:45797705-45797705 1:45332033-45332033
712 MUTYH NM_001128425.1(MUTYH):c.972G>C (p.Ser324=)SNV Likely benign 231895 rs771683103 1:45797720-45797720 1:45332048-45332048
713 MUTYH NM_001128425.1(MUTYH):c.1215G>T (p.Pro405=)SNV Likely benign 232703 rs876659935 1:45797200-45797200 1:45331528-45331528
714 MUTYH NM_001128425.1(MUTYH):c.1161T>A (p.Ile387=)SNV Likely benign 231196 rs876659016 1:45797358-45797358 1:45331686-45331686
715 MUTYH NM_001128425.1(MUTYH):c.1353G>A (p.Leu451=)SNV Likely benign 233730 rs876660604 1:45796977-45796977 1:45331305-45331305
716 MUTYH NM_001048171.1(MUTYH):c.1269G>A (p.Arg423=)SNV Likely benign 233326 rs199575659 1:45797104-45797104 1:45331432-45331432
717 MUTYH NM_001128425.1(MUTYH):c.1431G>A (p.Thr477=)SNV Likely benign 233896 rs74318065 1:45796899-45796899 1:45331227-45331227
718 MUTYH NM_001128425.1(MUTYH):c.1617T>C (p.Thr539=)SNV Likely benign 184193 rs756708148 1:45795011-45795011 1:45329339-45329339
719 MUTYH NM_001128425.1(MUTYH):c.1404C>T (p.Thr468=)SNV Likely benign 187067 rs746668146 1:45796926-45796926 1:45331254-45331254
720 MUTYH NM_001048171.1(MUTYH):c.1353A>C (p.Pro451=)SNV Likely benign 187485 rs768239149 1:45796935-45796935 1:45331263-45331263
721 MUTYH NM_001128425.1(MUTYH):c.1464C>T (p.Thr488=)SNV Likely benign 184281 rs373973053 1:45796866-45796866 1:45331194-45331194
722 MUTYH NM_001128425.1(MUTYH):c.1530G>A (p.Arg510=)SNV Likely benign 183791 rs747201171 1:45795098-45795098 1:45329426-45329426
723 MUTYH NM_001048171.1(MUTYH):c.844C>T (p.Leu282=)SNV Likely benign 183965 rs778782508 1:45797885-45797885 1:45332213-45332213
724 MUTYH NM_001128425.1(MUTYH):c.1302G>A (p.Thr434=)SNV Likely benign 185327 rs751465584 1:45797113-45797113 1:45331441-45331441
725 MUTYH NM_001128425.1(MUTYH):c.1293C>G (p.Leu431=)SNV Likely benign 187408 rs577542506 1:45797122-45797122 1:45331450-45331450
726 MUTYH NM_001048171.1(MUTYH):c.1104C>T (p.Ala368=)SNV Likely benign 185529 rs778193554 1:45797373-45797373 1:45331701-45331701
727 MUTYH NM_001128425.1(MUTYH):c.867G>A (p.Val289=)SNV Likely benign 186766 rs749815703 1:45797904-45797904 1:45332232-45332232
728 MUTYH NM_001128425.1(MUTYH):c.819C>G (p.Ala273=)SNV Likely benign 186749 rs753807655 1:45797952-45797952 1:45332280-45332280
729 MUTYH NM_001128425.1(MUTYH):c.657A>C (p.Thr219=)SNV Likely benign 183989 rs778014929 1:45798279-45798279 1:45332607-45332607
730 MUTYH NM_001048171.1(MUTYH):c.942C>T (p.Asp314=)SNV Likely benign 135993 rs587780752 1:45797708-45797708 1:45332036-45332036
731 MUTYH NM_001048171.1(MUTYH):c.840C>T (p.Arg280=)SNV Likely benign 135991 rs587780750 1:45797889-45797889 1:45332217-45332217
732 MUTYH NM_001128425.2(MUTYH):c.36+214G>CSNV Likely benign 801481 1:45805677-45805677 1:45340005-45340005
733 MUTYH NM_001128425.2(MUTYH):c.36+179G>TSNV Likely benign 801482 1:45805712-45805712 1:45340040-45340040
734 MUTYH NM_025077.4(TOE1):c.52+76A>GSNV Likely benign 801483 1:45806052-45806052 1:45340380-45340380
735 MUTYH NM_025077.4(TOE1):c.52+97G>ASNV Likely benign 801484 1:45806073-45806073 1:45340401-45340401
736 MUTYH NM_025077.4(TOE1):c.52+130A>GSNV Likely benign 801485 1:45806106-45806106 1:45340434-45340434
737 MUTYH NM_001048174.2(MUTYH):c.1102+42_1102+43deldeletion Likely benign 801476 1:45797290-45797291 1:45331618-45331619
738 MUTYH NM_001048174.2(MUTYH):c.1342C>T (p.Leu448=)SNV Likely benign 704733 1:45796904-45796904 1:45331232-45331232
739 MUTYH NM_001048174.2(MUTYH):c.363T>C (p.Tyr121=)SNV Likely benign 704665 1:45798784-45798784 1:45333112-45333112
740 MUTYH NM_001048174.2(MUTYH):c.1392+7C>TSNV Likely benign 742662 1:45796847-45796847 1:45331175-45331175
741 MUTYH NM_001048174.2(MUTYH):c.1503G>A (p.Leu501=)SNV Likely benign 760120 1:45795041-45795041 1:45329369-45329369
742 MUTYH NM_001048174.2(MUTYH):c.1194T>C (p.Arg398=)SNV Likely benign 753788 1:45797137-45797137 1:45331465-45331465
743 MUTYH NM_001048174.2(MUTYH):c.825G>A (p.Glu275=)SNV Likely benign 764506 1:45797862-45797862 1:45332190-45332190
744 MUTYH NM_001048174.2(MUTYH):c.588C>T (p.Ala196=)SNV Likely benign 753134 1:45798264-45798264 1:45332592-45332592
745 MUTYH NM_001048174.2(MUTYH):c.214C>T (p.Leu72=)SNV Likely benign 760856 1:45799135-45799135 1:45333463-45333463
746 MUTYH NM_001048174.2(MUTYH):c.1103-4T>ASNV Likely benign 758516 1:45797232-45797232 1:45331560-45331560
747 MUTYH NM_001048174.2(MUTYH):c.1393-6G>ASNV Likely benign 761189 1:45796235-45796235 1:45330563-45330563
748 MUTYH NM_001048174.2(MUTYH):c.1317C>T (p.Thr439=)SNV Likely benign 798733 1:45796929-45796929 1:45331257-45331257
749 MUTYH NM_001048174.2(MUTYH):c.189T>C (p.Ala63=)SNV Likely benign 800124 1:45799160-45799160 1:45333488-45333488
750 MUTYH NM_001048174.2(MUTYH):c.705-10C>ASNV Likely benign 799510 1:45797992-45797992 1:45332320-45332320
751 MUTYH NM_001128425.1(MUTYH):c.1512C>T (p.Thr504=)SNV Likely benign 628977 rs749212259 1:45796194-45796194 1:45330522-45330522
752 MUTYH NM_025077.4(TOE1):c.-43C>ASNV Likely benign 628379 rs766584437 1:45805882-45805882 1:45340210-45340210
753 MUTYH NM_001048171.1(MUTYH):c.1477-9T>CSNV Likely benign 557662 rs372815910 1:45795118-45795118 1:45329446-45329446
754 MUTYH NM_001048171.1(MUTYH):c.956-21T>CSNV Likely benign 553730 rs780013757 1:45797542-45797542 1:45331870-45331870
755 MUTYH NM_001128425.1(MUTYH):c.795A>G (p.Leu265=)SNV Likely benign 533330 rs1219073496 1:45797976-45797976 1:45332304-45332304
756 MUTYH NM_001128425.1(MUTYH):c.489C>T (p.Ala163=)SNV Likely benign 533320 rs1553129252 1:45798605-45798605 1:45332933-45332933
757 MUTYH NM_001128425.1(MUTYH):c.388+7A>GSNV Likely benign 533325 rs1553129783 1:45798950-45798950 1:45333278-45333278
758 MUTYH NM_001128425.1(MUTYH):c.591A>C (p.Leu197=)SNV Likely benign 492051 rs754061478 1:45798345-45798345 1:45332673-45332673
759 MUTYH NM_001048171.1(MUTYH):c.462+16G>ASNV Likely benign 492045 rs576152721 1:45798574-45798574 1:45332902-45332902
760 MUTYH NM_001128425.1(MUTYH):c.1257C>T (p.Ala419=)SNV Likely benign 533327 rs1553125813 1:45797158-45797158 1:45331486-45331486
761 MUTYH NM_025077.4(TOE1):c.-29G>ASNV Likely benign 533329 rs878854188 1:45805896-45805896 1:45340224-45340224
762 MUTYH NM_001128425.1(MUTYH):c.1374G>T (p.Leu458=)SNV Likely benign 533321 rs1553125172 1:45796956-45796956 1:45331284-45331284
763 MUTYH NM_001128425.1(MUTYH):c.998-5C>TSNV Likely benign 533323 rs786203632 1:45797526-45797526 1:45331854-45331854
764 MUTYH NM_001128425.1(MUTYH):c.834C>T (p.Phe278=)SNV Likely benign 533322 rs1553127774 1:45797937-45797937 1:45332265-45332265
765 MUTYH NM_001128425.1(MUTYH):c.948G>A (p.Gln316=)SNV Likely benign 533328 rs1553127433 1:45797744-45797744 1:45332072-45332072
766 MUTYH NM_025077.4(TOE1):c.-41A>CSNV Likely benign 533324 rs1211077933 1:45805884-45805884 1:45340212-45340212
767 MUTYH NM_001128425.1(MUTYH):c.789-8T>ASNV Likely benign 533326 rs758246147 1:45797990-45797990 1:45332318-45332318
768 MUTYH NM_001128425.1(MUTYH):c.567A>C (p.Gly189=)SNV Likely benign 533331 rs1361354427 1:45798444-45798444 1:45332772-45332772
769 MUTYH NM_001128425.1(MUTYH):c.1476+9T>GSNV Likely benign 492018 rs997411700 1:45796845-45796845 1:45331173-45331173
770 MUTYH NM_001128425.1(MUTYH):c.1257C>A (p.Ala419=)SNV Likely benign 492005 rs1553125813 1:45797158-45797158 1:45331486-45331486
771 MUTYH NM_025077.4(TOE1):c.-41A>GSNV Likely benign 492037 rs1211077933 1:45805884-45805884 1:45340212-45340212
772 MUTYH NM_001128425.1(MUTYH):c.891C>T (p.Cys297=)SNV Likely benign 479986 rs1553127606 1:45797880-45797880 1:45332208-45332208
773 MUTYH NM_001128425.1(MUTYH):c.1027C>T (p.Leu343=)SNV Likely benign 483900 rs1455263014 1:45797492-45797492 1:45331820-45331820
774 MUTYH NM_025077.4(TOE1):c.-44T>GSNV Likely benign 464715 rs201746729 1:45805881-45805881 1:45340209-45340209
775 MUTYH NM_025077.4(TOE1):c.-7C>ASNV Likely benign 481801 rs958040221 1:45805918-45805918 1:45340246-45340246
776 MUTYH NM_001128425.1(MUTYH):c.633C>T (p.Leu211=)SNV Likely benign 483895 rs1553128508 1:45798303-45798303 1:45332631-45332631
777 MUTYH NM_001128425.1(MUTYH):c.858G>T (p.Gly286=)SNV Likely benign 485899 rs771290019 1:45797913-45797913 1:45332241-45332241
778 MUTYH NM_001128425.1(MUTYH):c.1542C>T (p.Ser514=)SNV Likely benign 464701 rs1000260695 1:45795086-45795086 1:45329414-45329414
779 MUTYH NM_001128425.1(MUTYH):c.1515T>C (p.Cys505=)SNV Likely benign 464698 rs777894673 1:45796191-45796191 1:45330519-45330519
780 MUTYH NM_001128425.1(MUTYH):c.1152G>A (p.Gly384=)SNV Likely benign 464677 rs756490576 1:45797367-45797367 1:45331695-45331695
781 MUTYH NM_001128425.1(MUTYH):c.1287G>T (p.Gly429=)SNV Likely benign 464684 rs755651654 1:45797128-45797128 1:45331456-45331456
782 MUTYH NM_001128425.1(MUTYH):c.1626C>T (p.His542=)SNV Likely benign 464706 rs1209611812 1:45795002-45795002 1:45329330-45329330
783 MUTYH NM_001128425.1(MUTYH):c.348+10C>GSNV Likely benign 464712 rs369242529 1:45799075-45799075 1:45333403-45333403
784 MUTYH NM_001128425.1(MUTYH):c.1476+8_1476+44deldeletion Likely benign 464696 rs765210829 1:45796810-45796846 1:45331138-45331174
785 MUTYH NM_001128425.1(MUTYH):c.505-7C>TSNV Likely benign 464727 rs1553129112 1:45798513-45798513 1:45332841-45332841
786 MUTYH NM_001128425.1(MUTYH):c.504+9C>TSNV Likely benign 464726 rs1553129215 1:45798581-45798581 1:45332909-45332909
787 MUTYH NM_001128425.1(MUTYH):c.504+7G>ASNV Likely benign 464725 rs1052489573 1:45798583-45798583 1:45332911-45332911
788 MUTYH NM_001128425.1(MUTYH):c.1324-6C>TSNV Likely benign 464688 rs1553125351 1:45797012-45797012 1:45331340-45331340
789 MUTYH NM_025077.4(TOE1):c.-13G>TSNV Likely benign 464704 rs1553137062 1:45805912-45805912 1:45340240-45340240
790 MUTYH NM_001128425.1(MUTYH):c.1519-6T>CSNV Likely benign 464699 rs1553123120 1:45795115-45795115 1:45329443-45329443
791 MUTYH NM_001128425.1(MUTYH):c.1477-9_1477-7delshort repeat Likely benign 464697 rs763940868 1:45796236-45796238 1:45330564-45330566
792 MUTYH NM_001128425.1(MUTYH):c.1359T>C (p.Tyr453=)SNV Likely benign 464691 rs774968843 1:45796971-45796971 1:45331299-45331299
793 MUTYH NM_001128425.1(MUTYH):c.1324-7C>TSNV Likely benign 464689 rs1279750188 1:45797013-45797013 1:45331341-45331341
794 MUTYH NM_001128425.1(MUTYH):c.1314C>T (p.His438=)SNV Likely benign 464687 rs776022816 1:45797101-45797101 1:45331429-45331429
795 MUTYH NM_001128425.1(MUTYH):c.1293C>T (p.Leu431=)SNV Likely benign 464686 rs577542506 1:45797122-45797122 1:45331450-45331450
796 MUTYH NM_001128425.1(MUTYH):c.972G>A (p.Ser324=)SNV Likely benign 464741 rs771683103 1:45797720-45797720 1:45332048-45332048
797 MUTYH NM_001128425.1(MUTYH):c.609T>C (p.Arg203=)SNV Likely benign 464735 rs1322980057 1:45798327-45798327 1:45332655-45332655
798 MUTYH NM_001128425.1(MUTYH):c.543T>C (p.Ser181=)SNV Likely benign 464731 rs1553128898 1:45798468-45798468 1:45332796-45332796
799 MUTYH NM_025077.4(TOE1):c.-7C>TSNV Likely benign 464742 rs958040221 1:45805918-45805918 1:45340246-45340246
800 MUTYH NM_001128425.1(MUTYH):c.1392C>A (p.Thr464=)SNV Likely benign 464693 rs786202812 1:45796938-45796938 1:45331266-45331266
801 MUTYH NM_001128425.1(MUTYH):c.1260G>C (p.Leu420=)SNV Likely benign 464681 rs747498831 1:45797155-45797155 1:45331483-45331483
802 MUTYH NM_001128425.1(MUTYH):c.453A>C (p.Gly151=)SNV Likely benign 464721 rs753538213 1:45798778-45798778 1:45333106-45333106
803 MUTYH NM_001128425.1(MUTYH):c.1344C>T (p.His448=)SNV Likely benign 481795 rs1553125290 1:45796986-45796986 1:45331314-45331314
804 MUTYH NM_001128425.1(MUTYH):c.1215G>A (p.Pro405=)SNV Likely benign 414158 rs876659935 1:45797200-45797200 1:45331528-45331528
805 MUTYH NM_001128425.1(MUTYH):c.846C>T (p.Ala282=)SNV Likely benign 414147 rs1060504203 1:45797925-45797925 1:45332253-45332253
806 MUTYH NM_001128425.1(MUTYH):c.729G>A (p.Leu243=)SNV Likely benign 414148 rs1060504204 1:45798122-45798122 1:45332450-45332450
807 MUTYH NM_012222.2(MUTYH):c.682-18_682-17deldeletion Likely benign 419912 rs765157527 1:45798177-45798178 1:45332505-45332506
808 MUTYH NM_025077.4(TOE1):c.-20G>ASNV Likely benign 414151 rs753502884 1:45805905-45805905 1:45340233-45340233
809 MUTYH NM_001128425.1(MUTYH):c.1218C>T (p.Ser406=)SNV Likely benign 439220 rs759460243 1:45797197-45797197 1:45331525-45331525
810 MUTYH NM_001128425.1(MUTYH):c.1101C>T (p.Pro367=)SNV Likely benign 414145 rs1060504201 1:45797418-45797418 1:45331746-45331746
811 MUTYH NM_012222.2(MUTYH):c.1510-5dupduplication Likely benign 414157 rs1060504207 1:45795113-45795114 1:45329441-45329442
812 MUTYH NM_001128425.1(MUTYH):c.768C>T (p.Thr256=)SNV Likely benign 414155 rs372916108 1:45798083-45798083 1:45332411-45332411
813 MUTYH NM_025077.4(TOE1):c.-44T>CSNV Likely benign 414154 rs201746729 1:45805881-45805881 1:45340209-45340209
814 MUTYH NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe)SNV Benign/Likely benign 41755 rs140118273 1:45795084-45795084 1:45329412-45329412
815 MUTYH NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met)SNV Benign/Likely benign 41756 rs3219496 1:45795043-45795043 1:45329371-45329371
816 MUTYH NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln)SNV Benign/Likely benign 41757 rs3219497 1:45795027-45795027 1:45329355-45329355
817 MUTYH NM_001048171.1(MUTYH):c.306+11G>ASNV Benign/Likely benign 138309 rs139977567 1:45799074-45799074 1:45333402-45333402
818 MUTYH NM_001048171.1(MUTYH):c.672C>T (p.Asn224=)SNV Benign/Likely benign 184309 rs767327888 1:45798137-45798137 1:45332465-45332465
819 MUTYH NM_001048171.1(MUTYH):c.330C>T (p.Asp110=)SNV Benign/Likely benign 182697 rs730881836 1:45798973-45798973 1:45333301-45333301
820 MUTYH NM_012222.2(MUTYH):c.1440C>T (p.Thr480=)SNV Benign/Likely benign 182701 rs150269172 1:45796881-45796881 1:45331209-45331209
821 MUTYH NM_012222.2(MUTYH):c.64G>A (p.Val22Met)SNV Benign 41760 rs3219484 1:45800156-45800156 1:45334484-45334484
822 MUTYH NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)SNV Benign 41767 rs3219489 1:45797505-45797505 1:45331833-45331833
823 MUTYH NM_001048174.2(MUTYH):c.606+21C>ASNV Benign 801477 1:45798225-45798225 1:45332553-45332553
824 MUTYH NM_001048171.1(MUTYH):c.36+267C>TSNV Benign 555799 rs185172591 1:45805624-45805624 1:45339952-45339952

Expression for Myh-Associated Polyposis

Search GEO for disease gene expression data for Myh-Associated Polyposis.

Pathways for Myh-Associated Polyposis

Pathways related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

(showing 22, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 MSH2 KRAS HRAS APC
2 12.43 MSH2 KRAS HRAS APC
3 12.27 KRAS HRAS APC
4
Show member pathways
12.23 KRAS HRAS APC
5 11.85 MSH2 KRAS APC
6 11.7 KRAS HRAS APC
7 11.52 KRAS HRAS APC
8 11.39 KRAS HRAS APC
9 11.29 KRAS HRAS
10
Show member pathways
11.23 MSH2 GGT1
11 11.21 KRAS HRAS
12 11.18 KRAS HRAS APC
13 11.15 KRAS HRAS
14 11.08 KRAS HRAS
15 11.02 KRAS HRAS
16
Show member pathways
11 KRAS HRAS
17
Show member pathways
10.94 KRAS HRAS
18 10.87 KRAS HRAS
19 10.84 KRAS HRAS
20 10.78 KRAS HRAS
21 10.44 KRAS HRAS
22 10.28 KRAS HRAS APC

GO Terms for Myh-Associated Polyposis

Biological processes related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.33 MSH2 KRAS HRAS
2 mismatch repair GO:0006298 9.32 MUTYH MSH2
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS HRAS
4 cell cycle arrest GO:0007050 9.13 MSH2 HRAS APC
5 response to isolation stress GO:0035900 8.62 KRAS HRAS

Molecular functions related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex binding GO:0032405 8.96 MUTYH MSH2
2 oxidized purine DNA binding GO:0032357 8.62 MUTYH MSH2

Sources for Myh-Associated Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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