Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

3712 entries on 38 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 13 c.?C>A r.? p.? - Unknown - VUS g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases) - - (Germany) - - - - - 6 Elke Holinski-Feder
?/. 12 c.?G>A r.(?) p.(?) - Parent #1 - VUS g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 12 c.?G>A r.(?) p.(?) - Parent #1 - VUS g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany no known clinic, predictive - - (Germany) - - - - - 1 Elke Holinski-Feder
-?/. - c.-3396C>T r.(?) p.(=) - Unknown - likely benign g.45809322G>A g.45343650G>A TOE1(NM_025077.3):c.1481G>A (p.(Arg494His)) - TESK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3254T>A r.(?) p.(=) - Unknown - VUS g.45809180A>T - TOE1(NM_025077.4):c.1339A>T (p.T447S) - TESK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3230G>A r.(?) p.(=) - Unknown - VUS g.45809156C>T - TOE1(NM_025077.4):c.1315C>T (p.R439W) - TESK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3222C>G r.(?) p.(=) - Unknown - VUS g.45809148G>C - TOE1(NM_025077.4):c.1307G>C (p.G436A) - TESK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3091C>T r.(?) p.(=) - Unknown - likely benign g.45809017G>A - TOE1(NM_025077.4):c.1176G>A (p.L392=) - TESK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2907G>A r.(?) p.(=) - Unknown - likely benign g.45808833C>T g.45343161C>T TOE1(NM_025077.4):c.992C>T (p.A331V) - TESK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2826_-2748del r.(?) p.(=) - Unknown - likely pathogenic g.45808676_45808754del g.45343004_45343082del TOE1(NM_025077.4):c.912_913-2del - TESK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2747G>A r.(?) p.(=) - Unknown - VUS g.45808673C>T g.45343001C>T - - TOE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2236T>A r.(?) p.(=) - Unknown - likely pathogenic g.45808162A>T g.45342490A>T - - TESK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2129C>T r.(?) p.(=) - Unknown - likely pathogenic g.45808055G>A - TOE1(NM_025077.4):c.493-1G>A - TESK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1858C>T r.(?) p.(=) - Unknown - likely benign g.45807784G>A - TOE1(NM_025077.4):c.492+5G>A - TESK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1715A>G r.(?) p.(=) - Unknown - likely benign g.45807641T>C - TOE1(NM_025077.4):c.354T>C (p.A118=) - TESK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1692G>T r.(?) p.(=) - Unknown - VUS g.45807618C>A g.45341946C>A TOE1(NM_025077.4):c.334-3C>A - TESK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1266C>T r.(?) p.(=) - Unknown - VUS g.45807192G>A g.45341520G>A - - TOE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1243G>A r.(?) p.(=) - Unknown - likely benign g.45807169C>T - TOE1(NM_025077.4):c.261C>T (p.A87=) - TESK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1072C>G r.(?) p.(=) - Unknown - likely pathogenic g.45806998G>C g.45341326G>C - - TESK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-872C>T r.(?) p.(=) - Unknown - VUS g.45806798G>A - TOE1(NM_025077.4):c.106G>A (p.V36I) - TESK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-3949T>C r.(=) p.(=) - Unknown - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 - DUPLICATE – to be removed - rs9429072 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-3949T>C r.(=) p.(=) - Unknown - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 455/1260 (36.1%) heterozygotes among Caucasian prostate cancer patients (85 homozygotes) M - United States white - - - - 455 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #1 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) M - United States white - - - - 85 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #2 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) M - United States white - - - - 85 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Unknown - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 71/145 (49.0%) heterozygotes among African-American prostate cancer patients (40 homozygotes) M - United States African-American - - - - 71 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #1 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) M - United States African-American - - - - 40 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #2 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) M - United States African-American - - - - 40 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Unknown - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 485/1247 (38.9%) heterozygotes among Caucasian controls (76 homozygotes) M - United States white - - - - 485 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #1 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) M - United States white - - - - 76 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #2 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) M - United States white - - - - 76 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Unknown - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes) M - United States African-American - - - - 32 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #1 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) M - United States African-American - - - - 23 Astrid Out
?/. _1 c.-216-3949T>C r.(=) p.(=) - Parent #2 - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) M - United States African-American - - - - 23 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Unknown - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 - DUPLICATE – to be removed - rs9429157 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-2721C>T r.(=) p.(=) - Unknown - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 91 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Parent #1 - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 1 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Parent #2 - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 1 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Unknown - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HET PubMed: Schafmayer 2007 - - - Germany - - - - - 62 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Parent #2 - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 3 Astrid Out
?/. _1 c.-216-2721C>T r.(=) p.(=) - Parent #1 - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - - - - 3 Astrid Out
?/. _1 c.-216-290G>A r.(=) p.(=) - Unknown - VUS g.45806432C>T g.45340760C>T - - MUTYH_000244 - DUPLICATE – to be removed - rs3219463 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-290G>A r.(?) p.(=) - Unknown - VUS g.45806432C>T g.45340760C>T - - MUTYH_000244 - - - rs3219463 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 - DUPLICATE – to be removed - rs3219465 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - - - - 78 Astrid Out
?/. _1 c.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - - - - 64 Astrid Out
?/. _1 c.-177C>T r.(=) p.(=) - Unknown - VUS g.45806103G>A - - - MUTYH_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-177C>T r.(=) p.(=) - Parent #1 - VUS g.45806103G>A - - - MUTYH_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - F - (Netherlands) - - - - - 1 Carli Tops
-?/. - c.-177T>C r.(?) p.(=) - Unknown - likely benign g.45806103A>G g.45340431A>G - - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-165C>T r.(=) p.(=) - Unknown - VUS g.45806091G>A g.45340419G>A - - MUTYH_000083 - DUPLICATE – to be removed - rs3219466 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-165C>T r.(=) p.(=) - Unknown - VUS g.45806091G>A g.45340419G>A - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 1/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-165 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 1 Astrid Out
-/. - c.-127C>T r.(?) p.(=) - Unknown - benign g.45806053G>A g.45340381G>A - - MUTYH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-127C>T r.(?) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - http://egp.gs.washington.edu/data/mutyh/ - rs3219466 Unknown - 0.02 - - - DNA SEQ - - ? - http://egp.gs.washington.edu/data/mutyh/ - - - - - - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 4/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-127 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 4 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219466 Unknown - 6/230 - - - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - Denmark - - - - - 6 Mette Gaustadnes
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - - - - 2 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - - - - 2 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HET PubMed: Zhang 2006 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls F - United States white - - - - 98 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HET PubMed: Zhang 2006 96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients F - United States white - - - - 96 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, bladder 17203305_patients_c-127_HET PubMed: Figueroa 2007 - - - Spain - - - - - 55 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Unknown - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17203305_controls_c-127_HET PubMed: Figueroa 2007 - - - Spain - - - - - 48 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #1 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - - - - 1 Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - Parent #2 - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - - - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - - - - 1 Astrid Out
?/. _1 c.-83G>A r.(=) p.(=) - Unknown - VUS g.45806009C>T g.45340337C>T - - MUTYH_000229 - DUPLICATE – to be removed - rs28372898 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-83G>A r.(?) p.(=) - Unknown - VUS g.45806009C>T g.45340337C>T - - MUTYH_000229 - - - rs28372898 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-56G>C r.(=) p.(=) - Unknown - VUS g.45805982C>G g.45340310C>G - - MUTYH_000011 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-56G>C r.(=) p.(=) - Unknown - VUS g.45805982C>G g.45340310C>G - - MUTYH_000011 new in this paper; not in 500 control chromosomes PubMed: Gómez-Fernández 2009 - - Unknown - - - - - DNA SSCA, SEQ leukocyte Taqman 4 variants, screen MUTYH gene (index) cancer, colon PMID19531215_4 PubMed: Gómez-Fernández 2009 - - - Spain Galician or Catalonian - - - - 1 Astrid Out
+?/. - c.2T>C r.(?) p.Met1? - Unknown ACMG likely pathogenic g.45805925A>G g.45340253A>G - - MUTYH_000360 ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs865954220 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.2T>C r.? p.? - Parent #1 - NA g.45805925A>G - chr1_45805925_A_G - MUTYH_000360 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.2T>C r.? p.? - Parent #1 - NA g.45805925A>G - chr1_45805925_A_G - MUTYH_000360 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.8C>G r.(?) p.(Pro3Arg) - Parent #1 - NA g.45805919G>C - chr1_45805919_G_C - TOE1_000014 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.8C>G r.(?) p.(Pro3Arg) - Parent #1 - NA g.45805919G>C - chr1_45805919_G_C - TOE1_000014 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. 1 c.8C>T r.(=) p.(Pro3Leu) - Unknown - VUS g.45805919G>A g.45340247G>A - - MUTYH_000178 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.8C>T r.(=) p.(Pro3Leu) - Parent #1 - VUS g.45805919G>A g.45340247G>A - - MUTYH_000178 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. - c.8C>T r.(?) p.(Pro3Leu) - Parent #1 - NA g.45805919G>A - chr1_45805919_G_A - MUTYH_000178 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.10C>T r.(?) p.(Leu4Phe) - Parent #1 - NA g.45805917G>A - chr1_45805917_G_A - TOE1_000013 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.13G>A r.(?) p.(Val5Ile) - Parent #1 - NA g.45805914C>T - chr1_45805914_C_T - TOE1_000012 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.14T>C r.(?) p.(Val5Ala) - Parent #1 - NA g.45805913A>G - chr1_45805913_A_G - TOE1_000011 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.16T>C r.(?) p.(Ser6Pro) - Parent #1 - NA g.45805911A>G - chr1_45805911_A_G - TOE1_000010 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.20G>A r.(20g>a) p.(Arg7His) - Unknown - VUS g.45805907C>T g.45340235C>T 20G>A (Arg7His) - MUTYH_000256 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.20G>A r.(20g>a) p.(Arg7His) - Unknown - VUS g.45805907C>T g.45340235C>T 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - - Denmark - - - - - 1 Rikke Veggerby Groenlund
?/. - c.20G>A r.(?) p.(Arg7His) - Parent #1 - NA g.45805907C>T - chr1_45805907_C_T - MUTYH_000256 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.29G>C r.(?) p.(Arg10Pro) - Parent #1 - NA g.45805898C>G - chr1_45805898_C_G - TOE1_000009 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.29G>C r.(?) p.(Arg10Pro) - Parent #1 - NA g.45805898C>G - chr1_45805898_C_G - TOE1_000009 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.31C>G r.(?) p.(Leu11Val) - Parent #1 - NA g.45805896G>C - chr1_45805896_G_C - TOE1_000008 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.32T>C r.(?) p.(Leu11Pro) - Parent #1 - NA g.45805895A>G - chr1_45805895_A_G - TOE1_000006 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.32T>G r.(?) p.(Leu11Arg) - Parent #1 - NA g.45805895A>C - chr1_45805895_A_C - TOE1_000007 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.35G>A r.(?) p.(Arg12His) - Unknown - likely pathogenic g.72267106C>T g.71354871C>T - - MUTYH_000595 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G443 PubMed: Huang 2015 family M - China - - - - - 1 LOVD
?/. 1i c.36+1G>A r.spl p.0? - Unknown - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.36+1G>A r.spl p.0? - Unknown - pathogenic g.45805890C>T g.45340218C>T - - MUTYH_000224 Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict. Redeker (unpublished); AMC, Amsterdam, NL - - Unknown - - - - - DNA SEQ - - polyposis - Redeker (unpublished); AMC, Amsterdam, NL - M - Netherlands - - - - - 1 Bert Redeker
?/. 1i c.36+1G>A r.spl p.0? - Unknown - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 MSH2: c.1729T>C PubMed: Niessen et al. 2006 - - Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC 16408224_2 PubMed: Niessen 2006 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%), - - Netherlands - - - - - 1 Astrid Out
?/. - c.36+1G>A r.spl? p.? - Parent #1 - NA g.45805890C>T - chr1_45805890_C_T - MUTYH_000224 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, MUTYH(NM_001128425.2):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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