All transcript variants in gene MUTYH

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

2352 entries on 24 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 Germline (inherited) - Astrid Out
?/? _1 c.-216-290G>A r.(=) p.(=) - - - - - g.45806432C>T - - MUTYH_000244 - - Germline (inherited) - Astrid Out
?/? _1 c.-216-64G>A r.(=) p.(=) - - - - - g.45806206C>T -280G>A Tao 2008 MUTYH_000163 - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. Unknown - Astrid Out
?/? _1 c.-216-64G>A r.(=) p.(=) - - - - - g.45806206C>T -280G>A Tao 2008 MUTYH_000163 - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. Unknown - Astrid Out
?/? _1 c.-177C>T r.(=) p.(=) - - - - - g.45806103G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000001 - - Germline (inherited) - Carli Tops
?/? _1 c.-165C>T r.(=) p.(=) - - - - - g.45806091G>A - Peterlongo 2006 MUTYH_000083 1/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - http://egp.gs.washington.edu/data/mutyh/ MUTYH_000002 0.02 - Unknown - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000002 - - Germline (inherited) - Carli Tops
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Peterlongo 2006 MUTYH_000002 4/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Molecular Medicine, AUH, Skejby, Aarhus, DK MUTYH_000002 6/230 - Unknown - Mette Gaustadnes
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 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 - Germline (inherited) - Astrid Out
?/? _1 c.-83G>A r.(=) p.(=) - - - - - g.45806009C>T - - MUTYH_000229 - - Germline (inherited) - Astrid Out
?/? _1 c.-56G>C r.(=) p.(=) - - - - - g.45805982C>G - Gómez-Fernández 2009 MUTYH_000011 - new in this paper; not in 500 control chromosomes Unknown - Astrid Out
?/? 13 c.?C>A r.? p.? - - - - - g.? 1249C>A (Leu406Met) - MUTYH_000000 - - Unknown - Elke Holinski-Feder
-/? 12 c.?G>A r.(?) p.(?) PolyPhen PSIC 1.6 possibly damaging - - - - g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - Elke Holinski-Feder
-/? 12 c.?G>A r.(?) p.(?) PolyPhen PSIC 1.6 possibly damaging - - - - g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - Elke Holinski-Feder
-/? 1 c.8C>T r.(=) p.(Pro3Leu) - - - - - g.45805919G>A - MGZ, MŸnchen, DE MUTYH_000178 - - Unknown - Elke Holinski-Feder
?/? 1 c.20G>A r.(20g>a) p.(Arg7His) - - - - - g.45805907C>T 20G>A (Arg7His) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK MUTYH_000256 - - Unknown - Rikke Veggerby Grønlund
+/? 1i c.36+1G>A r.spl p.0? - - - - - g.45805890C>T - Redeker (unpublished); AMC, Amsterdam, NL 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. Unknown - Bert Redeker
?/? 1i c.36+1G>A r.spl p.0? - - - - - g.45805890C>T - Niessen et al. 2006 MUTYH_000224 - MSH2: c.1729T>C Germline (inherited) - Astrid Out
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - g.45805880G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000003 - - Germline (inherited) - Carli Tops
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - g.45805880G>A - Tao 2008 MUTYH_000003 - - Unknown - Astrid Out
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - g.45805880G>A - Tao 2008 MUTYH_000003 - - Unknown - Astrid Out
-?/? 1i c.36+11C>T r.(=) p.(=) - - - - - g.45805880G>A IVS1+11C>T Zhou 2005 MUTYH_000003 2,1% of n=84 www.fruitfly.org: no splicing effect Unknown - Astrid Out
?/? 1i c.36+54G>A r.(=) p.(=) - - - - - g.45805837C>T - - MUTYH_000230 - - Germline (inherited) - Astrid Out
?/? 1i c.36+75C>G r.(=) p.(=) - - - - - g.45805816G>C - Clinical Genetics, LUMC, Leiden, NL MUTYH_000020 - - Unknown - Carli Tops
?/? 1i c.36+267C>T r.(=) p.(=) - - - - - g.45805624G>A - Goto 2008 MUTYH_000200 1/46 alleles 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 Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5G>C; 156+5G>C MGZ, MŸnchen, DE MUTYH_000004 - - Unknown - Elke Holinski-Feder
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G 35+325G>C Barnetson 2007 MUTYH_000004 0.01 (?); n=225 - Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) NCBI reference sequence NC_000001.10 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) NCBI reference sequence NT_032977.9 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). Unknown - Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Plotz 2012 MUTYH_000004 1/54 controls The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Germline (inherited) - Guido Plotz
?/? 1i c.36+325G>C r.? p.? - - - - - g.45805566C>G - Plotz 2012 MUTYH_000004 1/54 controls The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Germline (inherited) - Guido Plotz
?/? 1i c.36+478C>G r.(=) p.(=) - - - - - g.45805413G>C - - MUTYH_000231 - - Germline (inherited) - Astrid Out
?/? 1i c.36+721C>T r.(=) p.(=) - - - - - g.45805170G>A - - MUTYH_000232 - - Germline (inherited) - Astrid Out
?/? 1i c.36+830G>A r.(=) p.(=) - - - - - g.45805061C>T - - MUTYH_000233 - - Germline (inherited) - Astrid Out
?/? 1i c.36+845G>C r.(=) p.(=) - - - - - g.45805046C>G - - MUTYH_000234 - - Germline (inherited) - Astrid Out
?/? 1i c.36+847T>C r.(=) p.(=) - - - - - g.45805044A>G - - MUTYH_000235 - - Germline (inherited) - Astrid Out
?/? 1i c.36+852A>G r.(=) p.(=) - - - - - g.45805039T>C - - MUTYH_000236 - - Germline (inherited) - Astrid Out
?/? 1i c.36+991_36+992insA r.(=) p.(=) - - - - - g.45804899_45804900insT - - MUTYH_000237 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1464_36+1465del r.(=) p.(=) - - - - - g.45804426_45804427del - - MUTYH_000291 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1466_36+1467insAC r.(=) p.(=) - - - - - g.45804424_45804425insGT - - MUTYH_000292 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1467_36+1468insAC r.(=) p.(=) - - - - - g.45804423_45804424insGT - - MUTYH_000293 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1474dup r.(=) p.(=) - - - - - g.45804417dup - - MUTYH_000290 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1474dup r.(=) p.(=) - - - - - g.45804417dup - - MUTYH_000290 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1563dup r.(=) p.(=) - - - - - g.45804328dup - - MUTYH_000294 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1802G>A r.(=) p.(=) - - - - - g.45804089C>T - - MUTYH_000295 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1841G>A r.(=) p.(=) - - - - - g.45804050C>T IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript) Yamaguchi 2002 MUTYH_000164 - - Unknown - Astrid Out
?/? 1i c.36+1945C>T r.(=) p.(=) - - - - - g.45803946G>A - - MUTYH_000297 - - Germline (inherited) - Astrid Out
?/? 1i c.36+1946dup r.(=) p.(=) - - - - - g.45803945dup - - MUTYH_000296 - - Germline (inherited) - Astrid Out
?/? 1i c.36+2351C>T r.(=) p.(=) - - - - - g.45803540G>A - - MUTYH_000298 - - Germline (inherited) - Astrid Out
?/? 1i c.36+2478T>C r.(=) p.(=) - - - - - g.45803413A>G - - MUTYH_000299 - - Germline (inherited) - Astrid Out
?/? 1i c.36+2774G>A r.(=) p.(=) - - - - - g.45803117C>T - - MUTYH_000300 - - Germline (inherited) - Astrid Out
?/? 1i c.37-2653C>A r.(=) p.(=) - - - - - g.45802836G>T - - MUTYH_000301 - - Germline (inherited) - Astrid Out
?/? 1i c.37-2487T>G r.(=) p.(=) - - - - - g.45802670A>C - - MUTYH_000245 - - Germline (inherited) - Astrid Out
?/? 1i c.37-2139T>C r.(=) p.(=) - - - - - g.45802322A>G - - MUTYH_000302 - - Germline (inherited) - Astrid Out
?/? 1i c.37-2002T>C r.(=) p.(=) - - - - - g.45802185A>G - - MUTYH_000303 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1960G>C r.(=) p.(=) - - - - - g.45802143C>G IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript) Yamaguchi 2002 MUTYH_000165 - - Unknown - Astrid Out
?/? 1i c.37-1798G>A r.(=) p.(=) - - - - - g.45801981C>T - - MUTYH_000304 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1747T>C r.(=) p.(=) - - - - - g.45801930A>G - - MUTYH_000305 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1192T>G r.(=) p.(=) - - - - - g.45801375A>C - - MUTYH_000306 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1074C>T r.(=) p.(=) - - - - - g.45801257G>A - - MUTYH_000307 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1040A>G r.(=) p.(=) - - - - - g.45801223T>C - - MUTYH_000308 - - Germline (inherited) - Astrid Out
?/? 1i c.37-1015A>G r.(=) p.(=) - - - - - g.45801198T>C - - MUTYH_000309 - - Germline (inherited) - Astrid Out
?/? 1i c.37-89dup r.(=) p.(=) - - - - - g.45800272dup - - MUTYH_000310 - - Germline (inherited) - Astrid Out
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