All transcript variants in gene MLH1

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

887 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
-?/-? - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou
-?/-? - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou
-?/-? - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou
-?/-? - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou
?/? - c.-8G>T r.(=) p.(=) g.37035031G>T - MLH1_000107 rs761672073 - Germline - - - - Despoina Kalfakakou
?/? - c.-8G>T r.(=) p.(=) g.37035031G>T - MLH1_000107 rs761672073 - Germline - - - - Despoina Kalfakakou
-/- - c.-7C>T r.(=) p.(=) g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou
-/- - c.-7C>T r.(=) p.(=) g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou
-/- - c.-7C>T r.(=) p.(=) g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou
?/? - c.1685 A>C r.(?) p.(Gln562Pro) g.37083776A>C - MLH1_000133 rs1553659377 - Germline ? - - - Despoina Kalfakakou
?/? - c.28C>T r.(?) p.(Arg10Trp) g.37035066C>T - MLH1_000137 rs1193754562 - Germline - - - - Despoina Kalfakakou
+/+ - c.31del r.(?) p.(Leu11Trpfs*6) g.37035069del - MLH1_000076  rs63749816 - Germline - - - - Despoina Kalfakakou
+/+ - c.67G>T r.(?) p.(Glu23*) g.37035105G>T - MLH1_000057 rs63750823 - Germline - - - - Despoina Kalfakakou
+/+ - c.67G>T r.(?) p.(Glu23*) g.37035105G>T - MLH1_000057 rs63750823 - Germline ? - - - Despoina Kalfakakou
?/? - c.91G>T r.(?) p.(Ala31Ser) g.37035129G>T - MLH1_000045 rs749671520 - Germline - - - - Despoina Kalfakakou
?/? - c.91G>T r.(?) p.(Ala31Ser) g.37035129G>T - MLH1_000045 rs749671520 - Germline - - - - Despoina Kalfakakou
?/? - c.91G>T r.(?) p.(Ala31Ser) g.37035129G>T - MLH1_000045 rs749671520 - Germline - - - - Despoina Kalfakakou
?/? - c.92C>G r.(?) p.(Ala31Gly) g.37035130C>G - MLH1_000028 rs730882127 - Germline - - - - Despoina Kalfakakou
?/? - c.92C>G r.(?) p.(Ala31Gly) g.37035130C>G - MLH1_000028 rs730882127 - Germline - - - - Despoina Kalfakakou
?/? - c.92C>G r.(?) p.(Ala31Gly) g.37035130C>G - MLH1_000028 rs730882127 - Germline - - - - Despoina Kalfakakou
?/? - c.96C>G r.(?) p.(Ile32Met) g.37035134C>G - MLH1_000114 rs1553637356 - Germline - - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+?/+? - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+/+ - c.116+5G>C r.spl? p.? g.37035159G>C Thodi et al (2010)   MLH1_000052 rs267607710 - Germline - - - - Despoina Kalfakakou
+/+ - c.116+5G>C r.spl? p.? g.37035159G>C Thodi et al (2010)   MLH1_000052 rs267607710 - Germline - - - - Despoina Kalfakakou
+/+ - c.116+5G>C r.spl? p.? g.37035159G>C Thodi et al (2010)   MLH1_000052 rs267607710 - Germline ? - - - Despoina Kalfakakou
+/+ - c.116+5G>C r.spl? p.? g.37035159G>C Thodi et al (2010)   MLH1_000052 rs267607710 - Germline ? - - - Despoina Kalfakakou
?/? - c.116+9G>A r.(=) p.(=) g.37035163G>A - MLH1_000097 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.116+14C>G r.(=) p.(=) g.37035168C>G - MLH1_000053 rs773103242 - Germline - - - - Despoina Kalfakakou
-?/-? - c.116+14C>G r.(=) p.(=) g.37035168C>G - MLH1_000053 rs773103242 - Germline - - - - Despoina Kalfakakou
?/? - c.116+20G>C r.(=) p.(=) g.37035174G>C - MLH1_000023 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.117-48A>G r.(=) p.(=) g.37038062A>G - MLH1_000121 rs377111182 - Germline - - - - Despoina Kalfakakou
+/+ - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - Germline - - - - Despoina Kalfakakou
+/+ - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - Germline - - - - Despoina Kalfakakou
+/+ - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - Germline ? - - - Despoina Kalfakakou
+/+ - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - Germline ? - - - Despoina Kalfakakou
+/+ - c.199G>A r.(?) p.(Gly67Arg) g.37038192G>A Avdievich et al (2008)   MLH1_000049 rs63750206 - Germline - - - - Despoina Kalfakakou
+/+ - c.199G>A r.(?) p.(Gly67Arg) g.37038192G>A Avdievich et al (2008)   MLH1_000049 rs63750206 - Germline ? - - - Despoina Kalfakakou
+/+ - c.207+5G>A r.spl? p.? g.37038205G>A - MLH1_000064  rs587781518 - Germline - - - - Despoina Kalfakakou
-?/-? - c.207+35C>T r.(=) p.(=) g.37038235C>T - MLH1_000074 rs376593743 - Germline - - - - Despoina Kalfakakou
-?/-? - c.207+35C>T r.(=) p.(=) g.37038235C>T - MLH1_000074 rs376593743 - Germline - - - - Despoina Kalfakakou
-?/-? - c.207+35C>T r.(=) p.(=) g.37038235C>T - MLH1_000074 rs376593743 - Germline - - - - Despoina Kalfakakou
?/? - c.207+41A>G r.(=) p.(=) g.37038241A>G - MLH1_000094 rs377420872 - Germline - - - - Despoina Kalfakakou
?/? - c.207+41A>G r.(=) p.(=) g.37038241A>G - MLH1_000094 rs377420872 - Germline - - - - Despoina Kalfakakou
-?/-? - c.208-9A>G r.(=) p.(=) g.37042437A>G - MLH1_000110 rs1057523558 - Germline - - - - Despoina Kalfakakou
?/? - c.232G>C r.(?) p.(Glu78Gln) g.37042470G>C - MLH1_000125 - - Germline ? - - - Despoina Kalfakakou
-?/-? - c.277A>G r.(?) p.(Ser93Gly) g.37042515A>G - MLH1_000116 rs41295282 - Germline - - - - Despoina Kalfakakou
?/? - c.299G>T r.(?) p.(Arg100Leu) g.37042537G>T - MLH1_000098 rs63750266 - Germline - - - - Despoina Kalfakakou
-/- - c.303T>G r.(=) p.(=) g.37042541T>G - MLH1_000111 rs4647220 - Germline - - - - Despoina Kalfakakou
?/? - c.306+32A>G r.(=) p.(=) g.37042576A>G - MLH1_000030 - - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
-/- - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
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