All variants in the MLH1 gene

Information The variants shown are described using the NM_000249.3 transcript reference sequence.

140 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 00 c.-93G>A - - SNP - GenBank MLH1_00056 0.1538 5' UTR - Qi Ming
./. 00 c.-93G>A - - 38/85 (45%) heterozygotes 19/85 (22%) homozygotes - GenBank MLH1_00056 - 5' UTR - Qi Ming
./. 00 c.-28A>G - - - - GenBank MLH1_00081 0.0238 5' UTR - Qi Ming
./. 01 c.-28A>G - - - - GenBank MLH1_00081 0.0118 5' UTR - Qi Ming
./. 01 c.-28A>G - - - - GenBank MLH1_00081 0.0118 5' UTR - Qi Ming
./. 02 c.(115-?)_(545+?)del - - - - GenBank MLH1_00117 0.0154 Exon - Qi Ming
./. 07 c.(546_?)_(588+?)del - - - - GenBank MLH1_00118 0.0154 Exon - Qi Ming
./. 09 c.(676_?)_(1667+?)del - - - - GenBank MLH1_00116 0.0154 Exon - Qi Ming
./. 11 c.(883_?)_(1038+?)del - - - - GenBank MLH1_00115 0.0154 Exon - Qi Ming
./. 00 c.(?_-60)_(588+?)del - - - - GenBank MLH1_00114 0.0154 Exon - Qi Ming
./. 00 c.(?_-60)_116+?del - - - - GenBank MLH1_00102 0.0128 Exon - Qi Ming
./. 00 c.(?_-60)_116+?dup - - - - GenBank MLH1_00103 0.0128 Exon - Qi Ming
./. 00 c.(?_-60)_884+?del - - - - GenBank MLH1_00104 0.0128 Exon - Qi Ming
./. 12 c.1226_1227AG>GT - p.Gln409Arg sporadic - GenBank MLH1_00121 0.0147 Exon - Qi Ming
./. 19 c.2104-?_(*193_?)dup - - - - GenBank MLH1_00105 0.0128 Exon - Qi Ming
./. 01 c.107T>A - p.Ile36Asn - - GenBank MLH1_00035 0.0132 Exon - Qi Ming
./. 02 c.137G>T - p.Ser46Ile - - GenBank MLH1_00067 0.0089 Exon - Qi Ming
./. 02 c.137G>T - p.Ser46Ile missense mutation - GenBank MLH1_00067 0.0172 Exon - Qi Ming
./. 02 c.137G>T - p.Ser46Ile - - GenBank MLH1_00067 0.0089 Exon - Qi Ming
./. 02 c.194G>A - p.Gly65Asp missense mutation - GenBank MLH1_00108 0.0172 Exon - Qi Ming
./. 02 c.194G>A - p.Gly65Asp - - GenBank MLH1_00108 0.0178 Exon - Qi Ming
./. 02 c.199G>A - p.Gly67Arg - - GenBank MLH1_00012 0.0714 Exon - Qi Ming
./. 02 c.199G>A - p.Gly67Arg - - GenBank MLH1_00012 0.0714 Exon - Qi Ming
./. 02 c.199G>A - p.Gly67Arg - - GenBank MLH1_00012 0.0714 Exon - Qi Ming
./. 03 c.208-1G>A - - - - GenBank MLH1_00036 0.0263 Intron - Qi Ming
./. 03 c.208-?_306+?dup - - - - GenBank MLH1_00106 0.0128 Exon - Qi Ming
./. 03 c.265G>T - p.Glu89X - - GenBank MLH1_00150 0.0417 Exon - Qi Ming
./. 03 c.265G>T - p.Glu89X nosense mutation - GenBank MLH1_00002 0.0357 Exon - Qi Ming
./. 03 c.265G>T - p.Glu89X - - GenBank MLH1_00250 0.0625 Exon - Qi Ming
./. 03 c.265G>T - p.Glu89X - - GenBank MLH1_00250 0.0625 Exon - Qi Ming
./. 04 c.350C>T - p.Thr117Met - - GenBank MLH1_00074 0.008 Exon - Qi Ming
./. 05 c.453+1G>T - - - - GenBank MLH1_00037 0.0132 Intron - Qi Ming
./. 06 c.488delG - p.Arg163LysfsX4 - - GenBank MLH1_00038 0.0132 Exon - Qi Ming
./. 06 c.497T>A - p.Leu166X - - GenBank MLH1_00039 0.0132 Exon - Qi Ming
./. 06 c.498A>C - p.Leu166Phe - - GenBank MLH1_00040 0.0263 Exon - Qi Ming
./. 06 c.503_504insA - p.Asn168LysfsX4 - - GenBank MLH1_00032 0.04 Exon - Qi Ming
./. 06 c.545+3A>G - - aberrant splicing - GenBank MLH1_00089 0.0357 Intron - Qi Ming
./. 06 c.545+3A>G - - - - GenBank MLH1_00089 0.0357 Intron - Qi Ming
./. 07 c.546-?_884+?del - - - - GenBank MLH1_00100 0.0128 Exon - Qi Ming
./. 07 c.572G>T - p.Ser191Ile - - GenBank MLH1_00041 0.0132 Exon - Qi Ming
./. 08 c.637G>T - p.Val213Leu - - GenBank MLH1_00012 0.0714 Exon - Qi Ming
./. 08 c.637G>T - p.Val213Leu SNP - GenBank MLH1_00138 0.0714 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00016 0.0833 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00016 0.0714 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00142 0.0159 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00142 0.0159 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00142 0.0159 Exon - Qi Ming
./. 08 c.649C>T - p.Arg217Cys - - GenBank MLH1_00142 0.0159 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.0357 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.04 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.04 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.04 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.0357 Exon - Qi Ming
./. 08 c.655A>G - p.Ile219Val - - GenBank MLH1_00010 0.0357 Exon - Qi Ming
./. 08 c.676C>T - p.Arg226X - - GenBank MLH1_00005 0.0588 Exon - Qi Ming
./. 08 c.676C>T - p. Arg226X - - GenBank MLH1_00005 0.0539 Exon - Qi Ming
./. 08 c.677G>A - p.Arg226Gln - - GenBank MLH1_00030 0.04 Exon - Qi Ming
./. 08 c.677G>A - p.Arg226Gln - - GenBank MLH1_00030 0.0357 Exon - Qi Ming
./. 08 c.677G>A - p.Arg226Gln - - GenBank MLH1_00030 0.0357 Exon - Qi Ming
./. 08 c.677G>T - p.Arg226Leu sporadic - GenBank MLH1_00119 0.0147 Exon - Qi Ming
./. 09 c.753C>T - p.Ser252Phe sporadic - GenBank MLH1_00120 0.0147 Exon - Qi Ming
./. 10 c.790C>T - p.His264Tyr - - GenBank MLH1_00075 0.008 Exon - Qi Ming
./. 09 c.790+1G>A - - high level microsatellite instability - GenBank MLH1_00034 0.04 Intron - Qi Ming
./. 09 c.790+1G>A - - aberrant splicing - GenBank MLH1_00034 0.0357 Intron - Qi Ming
./. 09 c.790+2T>A - - - - GenBank MLH1_00083 0.0159 Intron - Qi Ming
./. 10 c.808_811delACTT - p.Thr270ProfsX2 - - GenBank MLH1_00122 0.0159 Exon - Qi Ming
./. 11 c.885-597_1038+1120del - - - - GenBank MLH1_00008 - Exon - Qi Ming
./. 11 c.887T>G - p.Leu296X - - GenBank MLH1_00077 0.0263 Exon - Qi Ming
./. 11 c.887T>G - p.Leu296X - - GenBank MLH1_00077 0.0263 Exon - Qi Ming
./. 11 c.888delA - p.Leu296LeufsX71 - - GenBank MLH1_00054 0.006 Exon - Qi Ming
./. 11 c.901C>T - p.Gln301X - - GenBank MLH1_00055 0.018 Exon - Qi Ming
./. 11 c.914_937del24 - - four probands in four families - GenBank MLH1_00006 0.25 Exon - Qi Ming
./. 11 c.914_937del24 - p.Val305_His312del deletion - GenBank MLH1_00109 0.0172 Exon - Qi Ming
./. 11 c.920T>A - p.Val307Glu - - GenBank MLH1_00051 0.0132 Exon - Qi Ming
./. 11 c.927C>T - p.Pro309Pro - - GenBank MLH1_00088 0.0238 Exon - Qi Ming
./. 11 c.927C>T - p.Pro309Pro - - GenBank MLH1_00088 0.0107 Exon - Qi Ming
./. 11 c.932_933insA - p.Lys311LysfsX3 frameshift - GenBank MLH1_00110 0.0833 Exon - Qi Ming
./. 11 c.949C>A - p.Leu317Met - - GenBank MLH1_00043 0.0132 Exon - Qi Ming
./. 11 c.985C>A - p.His329Asn - - GenBank MLH1_00062 0.018 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0178 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.1667 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.006 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0178 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0789 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0178 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0789 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp SNP - GenBank MLH1_00009 0.1125 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0714 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00107 0.13 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp SNP - GenBank MLH1_00009 0.0667 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp missense mutation - GenBank MLH1_00009 0.0172 Exon - Qi Ming
./. 12 c.1151T>A - p.Val384Asp - - GenBank MLH1_00009 0.0178 Exon - Qi Ming
./. 12 c.1198C>G - p.Leu400Val - - GenBank MLH1_00020 0.0833 Exon - Qi Ming
./. 12 c.1246A>G - p.Lys416Glu - - GenBank MLH1_00044 0.0263 Exon - Qi Ming
./. 12 c.1362dupG - p.Thr455Aspfx24 - - GenBank MLH1_00071 0.0299 Exon - Qi Ming
./. 12 c.1402A>G - p.Asn468Asp - - GenBank MLH1_00063 0.0359 Exon - Qi Ming
./. 13 c.1459C>T - p.Arg487X - - GenBank MLH1_00078 0.0526 Exon - Qi Ming
./. 13 c.1459C>T - p.Arg487X - - GenBank MLH1_00078 0.0526 Exon - Qi Ming
./. 13 c.1558+14G>A - - - - GenBank MLH1_00082 0.0263 Intron - Qi Ming
./. 13 c.1558+14G>A - - - - GenBank MLH1_00082 0.0238 Intron - Qi Ming
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