View transcript variants in MLH1

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic)     

Reference     

DB-ID     

Frequency     

Owner     
+/. 01i c.116+1G>A r.spl? p.? Substitution g.37035155G>A - MLH1_000001 - Soto JL
+/. 02 c.155_158del r.(?) p.(Lys52Argfs*4) Deletion g.37038148_37038151del - MLH1_000002 - Soto JL
+/+ 02 c.199G>A r.(?) p.(Gly67Arg) Substitution g.37038192G>A - MLH1_000003 - Soto JL
+/. 03 c.208A>G r.(?) p.(Lys70Glu) Substitution g.37042446A>G - MLH1_000004 - Soto JL
+/. 03 c.244A>G r.(?) p.(Thr82Ala) Substitution g.37042482A>G - MLH1_000005 - Soto JL
+/. 03 c.298C>T r.(?) p.(Arg100*) Substitution g.37042536C>T - MLH1_000006 - Soto JL
+/. 03 c.350C>T r.(?) p.(Thr117Met) Substitution g.37045935C>T - MLH1_000007 - Soto JL
+/. 05 c.382delG r.(?) p.(Ala128Glnfs*8) Deletion g.37048483delG - MLH1_000008 - Soto JL
+/. 08 c.665delA r.(?) p.(Asn222Metfs*7) Deletion g.37053578delA - MLH1_000009 - Soto JL
+/. 08 c.676C>T r.(?) p.(Arg226*) Substitution g.37053589C>T - MLH1_000010 - Soto JL
+/. 08 c.677G>A r.(?) p.Gln197Argfs*8 Substitution g.37053590G>A - MLH1_000011 - Soto JL
+/. 08 c.677G>A r.(?) p.(Gln197Argfs*8) Substitution g.37053590G>A - MLH1_000011 - Soto JL
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