Unique variants in the MLH1 gene

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

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
+/+ 1 1 c.83C>T r.(?) p.(Pro28Leu) g.37035121C>T - MLH1_000001 - Florian Bayersdorfer
+/+ 1 2 c.122A>G r.(?) p.(Asp41Gly) g.37038115A>G - MLH1_000002 - Florian Bayersdorfer
+/+ 1 3 c.298C>T r.(?) p.(Arg100*) g.37042536C>T - MLH1_000007 - Florian Bayersdorfer
./+ 1 3 c.304_306+2del r.spl? p.? g.37042542_37042546del - MLH1_000004 - Florian Bayersdorfer
./+ 1 3 c.304_306+2delGAGGT r.spl? p.? g.37042542_37042546delGAGGT - MLH1_000003 - Florian Bayersdorfer
+/+ 1 3 c.306+1G>A r.spl? p.? g.37042545G>A - MLH1_000008 - Florian Bayersdorfer
+/+ 1 7 c.551C>A r.(?) p.(Ser184*) g.37053316C>A - MLH1_000009 - Florian Bayersdorfer
+/+ 1 7 c.588del r.(?) p.(Lys196Asnfs*6) g.37053353del - MLH1_000010 - Florian Bayersdorfer
+/+ 1 9 c.755C>A r.(?) p.(Ser252*) g.37056000C>A - MLH1_000011 - Florian Bayersdorfer
+/+ 1 12 c.790+1G>A r.spl? p.? g.37056036G>A - MLH1_000006 - Florian Bayersdorfer
?/? 1 10 c.836T>C r.(?) p.(Val279Ala) g.37059042T>C - MLH1_000016 - Florian Bayersdorfer
?/? 1 12 c.1039-3C>G r.spl? p.? g.37067125C>G - MLH1_000017 - Florian Bayersdorfer
+/+ 1 12 c.1039-1G>A r.spl? p.? g.37067127G>A - MLH1_000005 - Florian Bayersdorfer
?/? 1 12 c.1058C>T r.(?) p.(Ala353Val) g.37067147C>T - MLH1_000018 - Florian Bayersdorfer
?/? 1 12 c.1067C>T r.(?) p.(Ser356Phe) g.37067156C>T - MLH1_000019 - Florian Bayersdorfer
+/+ 1 12 c.1210dup r.(?) p.(Leu404Profs*13) g.37067299dup - MLH1_000012 - Florian Bayersdorfer
?/+ 1 12 c.1313delinsTT r.(?) p.(Ala438Valfs*2) g.37067402delinsTT - MLH1_000024 - Florian Bayersdorfer
?/? 1 12 c.1392T>C r.(=) p.(=) g.37067481T>C - MLH1_000020 - Florian Bayersdorfer
+/+ 1 13 c.1489dup r.(?) p.(Arg497Profs*6) g.37070354dup - MLH1_000013 - Florian Bayersdorfer
+/+ 1 15 c.1731G>A r.(=) p.(=) g.37083822G>A - MLH1_000014 - Florian Bayersdorfer
+/+ 1 12 c.1786_1788del r.(?) p.(Gly596del) g.37089064_37089066del - MLH1_000022 - Florian Bayersdorfer
+/+ 1 17 c.1975C>T r.(?) p.(Arg659*) g.37090086C>T - MLH1_000015 - Florian Bayersdorfer
?/? 1 . c.2159T>G r.(?) p.(Val720Gly) g.37092032T>G - MLH1_000025 - Florian Bayersdorfer
-/-? 1 19 c.2162A>G r.(?) p.(Tyr721Cys) g.37092035A>G - MLH1_000021 - Florian Bayersdorfer
+/+ 1 7 c.*1302del r.(=) p.(=) g.37093446del - MLH1_000023 - Florian Bayersdorfer
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