Unique variants in gene MLH1

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

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

Reported     

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     
-?/-? 4 - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-8G>T r.(=) p.(=) g.37035031G>T - MLH1_000107 rs761672073 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.-7C>T r.(=) p.(=) g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1685 A>C r.(?) p.(Gln562Pro) g.37083776A>C - MLH1_000133 rs1553659377 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.28C>T r.(?) p.(Arg10Trp) g.37035066C>T - MLH1_000137 rs1193754562 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.31del r.(?) p.(Leu11Trpfs*6) g.37035069del - MLH1_000076  rs63749816 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.67G>T r.(?) p.(Glu23*) g.37035105G>T - MLH1_000057 rs63750823 - Germline ? - - - Despoina Kalfakakou
?/? 3 - c.91G>T r.(?) p.(Ala31Ser) g.37035129G>T - MLH1_000045 rs749671520 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.92C>G r.(?) p.(Ala31Gly) g.37035130C>G - MLH1_000028 rs730882127 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.96C>G r.(?) p.(Ile32Met) g.37035134C>G - MLH1_000114 rs1553637356 - Germline - - - - Despoina Kalfakakou
+?/+? 8 - c.116+5G>A r.spl? p.? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou
+/+ 4 - c.116+5G>C r.spl? p.? g.37035159G>C Thodi et al (2010)   MLH1_000052 rs267607710 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.116+9G>A r.(=) p.(=) g.37035163G>A - MLH1_000097 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.116+14C>G r.(=) p.(=) g.37035168C>G - MLH1_000053 rs773103242 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.116+20G>C r.(=) p.(=) g.37035174G>C - MLH1_000023 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.117-48A>G r.(=) p.(=) g.37038062A>G - MLH1_000121 rs377111182 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.199G>A r.(?) p.(Gly67Arg) g.37038192G>A Avdievich et al (2008)   MLH1_000049 rs63750206 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.207+5G>A r.spl? p.? g.37038205G>A - MLH1_000064  rs587781518 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.207+35C>T r.(=) p.(=) g.37038235C>T - MLH1_000074 rs376593743 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.207+41A>G r.(=) p.(=) g.37038241A>G - MLH1_000094 rs377420872 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.208-9A>G r.(=) p.(=) g.37042437A>G - MLH1_000110 rs1057523558 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.232G>C r.(?) p.(Glu78Gln) g.37042470G>C - MLH1_000125 - - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.277A>G r.(?) p.(Ser93Gly) g.37042515A>G - MLH1_000116 rs41295282 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.299G>T r.(?) p.(Arg100Leu) g.37042537G>T - MLH1_000098 rs63750266 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.303T>G r.(=) p.(=) g.37042541T>G - MLH1_000111 rs4647220 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.306+32A>G r.(=) p.(=) g.37042576A>G - MLH1_000030 - - Germline - - - - Despoina Kalfakakou
-/- 68 - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.350C>G r.(?) p.(Thr117Arg) g.37045935C>G - MLH1_000132 rs63750781 - Germline ? - - - Despoina Kalfakakou
+/+ 4 - c.350C>T r.(?) p.(Thr117Met) g.37045935C>T - MLH1_000130 rs63750781 - Germline ? - - - Despoina Kalfakakou
-?/-? 2 - c.381-43C>G r.(=) p.(=) g.37048439C>G - MLH1_000091 rs368847278 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.438A>G r.(=) p.(=) g.37048539A>G - MLH1_000109 rs377279035 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.453+20G>T r.(=) p.(=) g.37048574G>T - MLH1_000106 rs759417195 - Germline - - - - Despoina Kalfakakou
-/- 68 - c.453+25A>G r.(=) p.(=) g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.453+45T>C r.(=) p.(=) g.37048599T>C - MLH1_000046 - - Germline - - - - Despoina Kalfakakou
+/+ 3 6 c.(453+1_454-1)_(545+1_546-1)del r.(?) p.(?) g.(37048555_37050304)_(37050397_37053310)del - MLH1_000140 - - Germline ? MLH1 exon 6 deletion - - Despoina Kalfakakou
-/- 1 - c.545+20A>T r.(=) p.(=) g.37050416A>T - MLH1_000031 rs121909453 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.545+30del r.(=) p.(=) g.37050426del - MLH1_000032 - - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.546-1G>C r.spl? p.? g.37053310G>C - MLH1_000129 rs587779022 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.589-41G>C r.(=) p.(=) g.37053461G>C - MLH1_000119 rs201209377 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.636C>T r.(=) p.(=) g.37053549C>T - MLH1_000019 rs138735345 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.637G>A r.(?) p.(Val213Met) g.37053550G>A - MLH1_000070 rs2308317 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.676C>T r.(?) p.(Arg226*) g.37053589C>T - MLH1_000047 rs63751615 - Germline ? - - - Despoina Kalfakakou
?/? 6 - c.677+47del r.(=) p.(=) g.37053637del - MLH1_000068 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.678-43G>A r.(=) p.(=) g.37055880G>A - MLH1_000080 rs1196628789 - Germline - - - - Despoina Kalfakakou
-/- 20 - c.702G>A r.(=) p.(=) g.37055947G>A - MLH1_000033 rs35908749 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.790+1G>A r.spl? p.? g.37056036G>A Thodi et al (2010)   MLH1_000127 rs267607789 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.790+2dupT r.spl? p.? g.37056037dupT - MLH1_000134 rs267607791 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.876G>A r.(=) p.(=) g.37059082G>A - MLH1_000069 rs773452312 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.884+15A>G r.(=) p.(=) g.37059105A>G - MLH1_000075 rs372817491 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.884+39G>A r.(=) p.(=) g.37059129G>A - MLH1_000048  rs370283452 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.885-39A>G r.(=) p.(=) g.37061762A>G - MLH1_000087 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.885-30G>C r.(=) p.(=) g.37061771G>C - MLH1_000141 rs374860412 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.885-26_885-23del r.(=) p.(=) g.37061775_37061778del - MLH1_000065 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.885-24T>A r.(=) p.(=) g.37061777T>A - MLH1_000039  rs201594027 - Germline - - - - Despoina Kalfakakou
?/? 7 - c.885-21_885-20del r.(=) p.(=) g.37061780_37061781del - MLH1_000020 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.954C>T r.(=) p.(=) g.37061870C>T - MLH1_000040 rs146777069 - Germline - - - - Despoina Kalfakakou
-/- 18 - c.977T>C r.(?) p.(Val326Ala) g.37061893T>C - MLH1_000017 rs63751049 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1036C>T r.(?) p.(Gln346*) g.37061952C>T - MLH1_000126 rs63751275 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.1038+9G>A r.(=) p.(=) g.37061963G>A - MLH1_000041 rs267607817 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1039-47A>C r.(=) p.(=) g.37067081A>C - MLH1_000001 rs760562816 - Germline - - - - Despoina Kalfakakou
?/? 13 - c.1039-45A>C r.(=) p.(=) g.37067083A>C - MLH1_000002 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1039-36_1039-28del r.(=) p.(=) g.37067092_37067100del - MLH1_000054 - - Germline - - - - Despoina Kalfakakou
-?/-? 16 - c.1039-34_1039-28del r.(=) p.(=) g.37067094_37067100del - MLH1_000013 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-34_1039-27del r.(=) p.(=) g.37067094_37067101del - MLH1_000073 - - Germline - - - - Despoina Kalfakakou
-/- 126 - c.1039-34_1039-26del r.(=) p.(=) g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou
-/- 9 - c.1039-33A>T r.(=) p.(=) g.37067095A>T - MLH1_000004 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1039-33_1039-27del r.(=) p.(=) g.37067095_37067101del - MLH1_000027 - - Germline - - - - Despoina Kalfakakou
-?/-? 92 - c.1039-33_1039-26del r.(=) p.(=) g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1039-32_1039-28del r.(=) p.(=) g.37067096_37067100del - MLH1_000090 rs71831268 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-32_1039-27del r.(=) p.(=) g.37067096_37067101del - MLH1_000084 - - Germline - - - - Despoina Kalfakakou
-?/-? 47 - c.1039-32_1039-26del r.(=) p.(=) g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou
-?/-? 33 - c.1039-32_1039-25del r.(=) p.(=) g.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-32_1039-24del r.(=) p.(=) g.37067096_37067104del - MLH1_000072 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-31_1039-27del r.(=) p.(=) g.37067097_37067101del - MLH1_000096 - - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.1039-31_1039-26del r.(=) p.(=) g.37067097_37067102del - MLH1_000042 rs1178900468 - Germline - - - - Despoina Kalfakakou
-/- 4 - c.1039-31_1039-25del r.(=) p.(=) g.37067097_37067103del - MLH1_000059 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-30_1039-28del r.(=) p.(=) g.37067098_37067100del - MLH1_000117 - - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.1039-30_1039-26del r.(=) p.(=) g.37067098_37067102del - MLH1_000006 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-30_1039-25del r.(=) p.(=) g.37067098_37067103del - MLH1_000124 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1039-30_1039-24del r.(=) p.(=) g.37067098_37067104del - MLH1_000043 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.1039-29del r.(=) p.(=) g.37067099del - MLH1_000095 rs746933807 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1039-29_1039-28insTAT r.(=) p.(=) g.37067099_37067100insTAT - MLH1_000081 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1039-29_1039-28insTATAT r.(=) p.(=) g.37067099_37067100insTATAT - MLH1_000082 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-29_1039-28insTATT r.(=) p.(=) g.37067099_37067100insTATT - MLH1_000088 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1039-28del r.(=) p.(=) g.37067100del - MLH1_000061 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-28dup r.(=) p.(=) g.37067100dup - MLH1_000060 - - Germline - - - - Despoina Kalfakakou
-?/-? 10 - c.1039-28_1039-27insA r.(=) p.(=) g.37067100_37067101insA - MLH1_000014 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1039-28_1039-27insATA r.(=) p.(=) g.37067100_37067101insATA - MLH1_000078 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-28_1039-27insATATATA r.(=) p.(=) g.37067100_37067101insATATATA - MLH1_000044 rs57509953 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-28_1039-27insTTT r.(=) p.(=) g.37067100_37067101insTTT - MLH1_000100 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-28_1039-27insTTTTT r.(=) p.(=) g.37067100_37067101insTTTTT - MLH1_000105 rs72439938 - Germline - - - - Despoina Kalfakakou
-/- 20 - c.1039-26T>A r.(=) p.(=) g.37067102T>A - MLH1_000007 rs1360955428 - Germline - - - - Despoina Kalfakakou
-?/-? 12 - c.1039-25T>A r.(=) p.(=) g.37067103T>A - MLH1_000008 rs764852270 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-24T>A r.(=) p.(=) g.37067104T>A - MLH1_000115 rs1285179213 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1039-8_1039-7insA r.(=) p.(=) g.37067120_37067121insA - MLH1_000102 rs535965616 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1039-8_1039-7insTTTA r.(=) p.(=) g.37067120_37067121insTTTA - MLH1_000135 rs535965616 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1039-8_1039-7insTTTT r.(=) p.(=) g.37067120_37067121insTTTT - MLH1_000025 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1039-8_1039-7insTTTTA r.(=) p.(=) g.37067120_37067121insTTTTA - MLH1_000085 rs535965616 - Germline - - - - Despoina Kalfakakou
-/- 5 - c.1039-8_1039-7insTTTTTA r.(=) p.(=) g.37067120_37067121insTTTTTA - MLH1_000101 rs535965616 - Germline - - - - Despoina Kalfakakou
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