All transcript variants in gene MUTYH


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

2994 entries on 30 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. - c.-3396C>T likely benign r.(?) p.(=) - g.45809322G>A - TOE1(NM_025077.3):c.1481G>A (p.(Arg494His)) - TESK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2985G>A likely benign r.(?) p.(=) - g.45808911C>T - TOE1(NM_025077.3):c.1070C>T (p.(Thr357Ile)) - TOE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-2937C>T likely benign r.(?) p.(=) - g.45808863G>A - TOE1(NM_025077.3):c.1022G>A (p.(Arg341His)) - MUTYH_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2907G>A likely benign r.(?) p.(=) - g.45808833C>T - TOE1(NM_025077.3):c.992C>T (p.A331V) - TESK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-2747G>A VUS r.(?) p.(=) - g.45808673C>T - TOE1():c.911C>T (p.Ser304Leu) - TOE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-2236T>A likely pathogenic r.(?) p.(=) - g.45808162A>T - TOE1(NM_025077.3):c.599A>T (p.Tyr200Phe) - TESK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-1266C>T VUS r.(?) p.(=) - g.45807192G>A - TOE1():c.284G>A (p.Arg95His) - TOE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-1072C>G likely pathogenic r.(?) p.(=) - g.45806998G>C - TOE1(NM_025077.3):c.219G>C (p.Arg73Ser) - TESK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>G - - - MUTYH_000039 - DUPLICATE – to be removed - rs9429072 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>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% - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 - DUPLICATE – to be removed - rs9429157 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>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 - 0 - Astrid Out
?/. _1 c.-216-290G>A VUS r.(=) p.(=) - g.45806432C>T - - - MUTYH_000244 - DUPLICATE – to be removed - rs3219463 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-216-290G>A VUS r.(?) p.(=) - g.45806432C>T - - - MUTYH_000244 - - - rs3219463 Germline - - - 0 - Astrid Out
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - g.45806206C>T - -280G>A - MUTYH_000163 - DUPLICATE – to be removed - rs3219465 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - g.45806206C>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 - - - 0 - Astrid Out
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - g.45806206C>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 - - - 0 - Astrid Out
?/. _1 c.-177C>T VUS r.(=) p.(=) - g.45806103G>A - - - MUTYH_000001 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-177C>T VUS r.(=) p.(=) - g.45806103G>A - - - MUTYH_000001 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - Carli Tops
-?/. - c.-177T>C likely benign r.(?) p.(=) - g.45806103A>G - MUTYH(NM_001128425.1):c.-177T>C (p.?) - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. _1 c.-165C>T VUS r.(=) p.(=) - g.45806091G>A - - - MUTYH_000083 - DUPLICATE – to be removed - rs3219466 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-165C>T VUS r.(=) p.(=) - g.45806091G>A - - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 1/160 alleles - 0 - Astrid Out
-/. - c.-127C>T benign r.(?) p.(=) - g.45806053G>A - MUTYH(NM_001128425.1):c.-127C>T (p.?) - MUTYH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.-127C>T VUS r.(?) p.(=) - g.45806053G>A - - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - http://egp.gs.washington.edu/data/mutyh/ - rs3219466 Unknown - 0.02 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - Carli Tops
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 4/160 alleles - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219466 Unknown - 6/230 - 0 - Mette Gaustadnes
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - g.45806053G>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 - 0 - Astrid Out
?/. _1 c.-83G>A VUS r.(=) p.(=) - g.45806009C>T - - - MUTYH_000229 - DUPLICATE – to be removed - rs28372898 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-83G>A VUS r.(?) p.(=) - g.45806009C>T - - - MUTYH_000229 - - - rs28372898 Germline - - - 0 - Astrid Out
?/. _1 c.-56G>C VUS r.(=) p.(=) - g.45805982C>G - - - MUTYH_000011 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-56G>C VUS r.(=) p.(=) - g.45805982C>G - - - MUTYH_000011 new in this paper; not in 500 control chromosomes PubMed: Gómez-Fernández 2009 - - Unknown - - - 0 - Astrid Out
?/. 13 c.?C>A VUS r.? p.? - g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - 0 - Elke Holinski-Feder
?/. 12 c.?G>A VUS r.(?) p.(?) - g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
?/. 12 c.?G>A VUS r.(?) p.(?) - g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
+?/. - c.2T>C likely pathogenic r.(?) p.Met1? - g.45805925A>G - - - MUTYH_000360 ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs865954220 Germline - - - 0 - Andreas Laner
?/. 1 c.8C>T VUS r.(=) p.(Pro3Leu) - g.45805919G>A - - - MUTYH_000178 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.8C>T VUS r.(=) p.(Pro3Leu) - g.45805919G>A - - - MUTYH_000178 - MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
?/. 1 c.20G>A VUS r.(20g>a) p.(Arg7His) - g.45805907C>T - 20G>A (Arg7His) - MUTYH_000256 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.20G>A VUS r.(20g>a) p.(Arg7His) - g.45805907C>T - 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - Unknown - - - 0 - Rikke Veggerby Groenlund
?/. 1i c.36+1G>A VUS r.spl p.0? - g.45805890C>T - - - MUTYH_000224 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1i c.36+1G>A pathogenic r.spl p.0? - g.45805890C>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 - - - 0 - Bert Redeker
?/. 1i c.36+1G>A VUS r.spl p.0? - g.45805890C>T - - - MUTYH_000224 MSH2: c.1729T>C PubMed: Niessen et al. 2006 - - Germline - - - 0 - Astrid Out
-/. - c.36+11C>T benign r.(=) p.(=) - g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36+11C>T benign r.(=) p.(=) - g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1i c.36+11C>T VUS r.(=) p.(=) - g.45805880G>A - IVS1+11C>T - MUTYH_000003 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+11C>T VUS r.(=) p.(=) - g.45805880G>A - - - MUTYH_000003 - Clinical Genetics, LUMC, Leiden, NL - rs2275602 Germline - - - 0 - Carli Tops
?/. 1i c.36+11C>T VUS r.(=) p.(=) - g.45805880G>A - - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - Astrid Out
?/. 1i c.36+11C>T VUS r.(=) p.(=) - g.45805880G>A - - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - Astrid Out
?/. 1i c.36+11C>T VUS r.(=) p.(=) - g.45805880G>A - IVS1+11C>T - MUTYH_000003 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - - Unknown - 2,1% of n=84 - 0 - Astrid Out
-/. - c.36+11C>T benign r.(=) p.(=) - g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.36+11C>T benign r.(=) p.(=) - g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1i c.36+54G>A VUS r.(=) p.(=) - g.45805837C>T - - - MUTYH_000230 - DUPLICATE – to be removed - rs17838009 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+54G>A VUS r.(?) p.(=) - g.45805837C>T - - - MUTYH_000230 - - - rs17838009 Germline - - - 0 - Astrid Out
?/. 1i c.36+75C>G VUS r.(=) p.(=) - g.45805816G>C - - - MUTYH_000020 - DUPLICATE – to be removed - rs3219467 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+75C>G VUS r.(=) p.(=) - g.45805816G>C - - - MUTYH_000020 - Clinical Genetics, LUMC, Leiden, NL - rs3219467 Unknown - - - 0 - Carli Tops
?/. 1i c.36+267C>T VUS r.(=) p.(=) - g.45805624G>A - - - MUTYH_000200 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+267C>T VUS r.(=) p.(=) - g.45805624G>A - - - MUTYH_000200 Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1 PubMed: Goto 2008 - - Unknown - 1/46 alleles - 0 - Astrid Out
-/. - c.36+325C>G benign r.(=) p.(=) - g.45805566G>C - MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.3):c.-359G>C - MUTYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - DUPLICATE – to be removed - rs3219468 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5G>C; 156+5G>C - MUTYH_000004 - MGZ, Munchen, DE - rs3219468 Unknown - - - 0 - Elke Holinski-Feder
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - 35+325G>C - MUTYH_000004 - PubMed: Barnetson 2007 - rs3219468 Unknown - 0.01 (?); n=225 - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). NCBI reference sequence NC_000001.10 - rs3219468 Unknown - - - 0 - Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). NCBI reference sequence NT_032977.9 - rs3219468 Unknown - - - 0 - Astrid Out
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