Unique variants in gene MLH1

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

123 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     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 2 - c.-28A>G r.(=) p.(=) g.37035011A>G - MLH1_000022 rs56198082 - - - Despoina Kalfakakou
./. 2 - c.-8G>T r.(=) p.(=) g.37035031G>T - MLH1_000107 - - - - Despoina Kalfakakou
./. 1 - c.-7C>T r.(=) p.(=) g.37035032C>T - MLH1_000066 - - - - Despoina Kalfakakou
./. 1 - c.31del r.(?) p.(Leu11Trpfs*6) g.37035069del - MLH1_000076 rs63749816 - - - Despoina Kalfakakou
./. 1 - c.67G>T r.(?) p.(Glu23*) g.37035105G>T - MLH1_000057 - - - - Despoina Kalfakakou
./. 3 - c.91G>T r.(?) p.(Ala31Ser) g.37035129G>T - MLH1_000045 - - - - Despoina Kalfakakou
./. 3 - c.92C>G r.(?) p.(Ala31Gly) g.37035130C>G - MLH1_000028 - - - - Despoina Kalfakakou
./. 1 - c.96C>G r.(?) p.(Ile32Met) g.37035134C>G - MLH1_000114 - - - - Despoina Kalfakakou
./. 2 - c.116+5G>C r.spl? p.? g.37035159G>C - MLH1_000052 - - - - Despoina Kalfakakou
./. 1 - c.116+9G>A r.(=) p.(=) g.37035163G>A - MLH1_000097 - - - - Despoina Kalfakakou
./. 2 - c.116+14C>G r.(=) p.(=) g.37035168C>G - MLH1_000053 - - - - Despoina Kalfakakou
./. 1 - c.116+20G>C r.(=) p.(=) g.37035174G>C - MLH1_000023 - - - - Despoina Kalfakakou
./. 1 - c.117-48A>G r.(=) p.(=) g.37038062A>G - MLH1_000121 - - - - Despoina Kalfakakou
./. 1 - c.182del r.(?) p.(Ile61Thrfs*31) g.37038175del - MLH1_000029 - - - - Despoina Kalfakakou
./. 1 - c.199G>A r.(?) p.(Gly67Arg) g.37038192G>A - MLH1_000049 - - - - Despoina Kalfakakou
./. 1 - c.207+5G>A r.spl? p.? g.37038205G>A - MLH1_000064 - - - - Despoina Kalfakakou
./. 3 - c.207+35C>T r.(=) p.(=) g.37038235C>T - MLH1_000074 - - - - Despoina Kalfakakou
./. 2 - c.207+41A>G r.(=) p.(=) g.37038241A>G - MLH1_000094 - - - - Despoina Kalfakakou
./. 1 - c.208-9A>G r.(=) p.(=) g.37042437A>G - MLH1_000110 - - - - Despoina Kalfakakou
./. 1 - c.277A>G r.(?) p.(Ser93Gly) g.37042515A>G - MLH1_000116 rs78852840 - - - Despoina Kalfakakou
./. 1 - c.299G>T r.(?) p.(Arg100Leu) g.37042537G>T - MLH1_000098 - - - - Despoina Kalfakakou
./. 1 - c.303T>G r.(=) p.(=) g.37042541T>G - MLH1_000111 rs4647220 - - - Despoina Kalfakakou
./. 1 - c.306+32A>G r.(=) p.(=) g.37042576A>G - MLH1_000030 - - - - Despoina Kalfakakou
./. 61 - c.307-29C>A r.(=) p.(=) g.37045863C>A - MLH1_000021 - - - - Despoina Kalfakakou
./. 2 - c.381-43C>G r.(=) p.(=) g.37048439C>G - MLH1_000091 - - - - Despoina Kalfakakou
./. 4 - c.438A>G r.(=) p.(=) g.37048539A>G - MLH1_000109 - - - - Despoina Kalfakakou
./. 2 - c.453+20G>T r.(=) p.(=) g.37048574G>T - MLH1_000106 - - - - Despoina Kalfakakou
./. 61 - c.453+25A>G r.(=) p.(=) g.37048579A>G - MLH1_000018 rs4647246 - - - Despoina Kalfakakou
./. 1 - c.453+45T>C r.(=) p.(=) g.37048599T>C - MLH1_000046 - - - - Despoina Kalfakakou
./. 1 - c.545+20A>T r.(=) p.(=) g.37050416A>T - MLH1_000031 - - - - Despoina Kalfakakou
./. 2 - c.545+30del r.(=) p.(=) g.37050426del - MLH1_000032 - - - - Despoina Kalfakakou
./. 1 - c.589-41G>C r.(=) p.(=) g.37053461G>C - MLH1_000119 - - - - Despoina Kalfakakou
./. 1 - c.636C>T r.(=) p.(=) g.37053549C>T - MLH1_000019 - - - - Despoina Kalfakakou
./. 2 - c.637G>A r.(?) p.(Val213Met) g.37053550G>A - MLH1_000070 rs2308317 - - - Despoina Kalfakakou
./. 3 - c.676C>T r.(?) p.(Arg226*) g.37053589C>T - MLH1_000047 - - - - Despoina Kalfakakou
./. 6 - c.677+47del r.(=) p.(=) g.37053637del - MLH1_000068 - - - - Despoina Kalfakakou
./. 1 - c.678-43G>A r.(=) p.(=) g.37055880G>A - MLH1_000080 - - - - Despoina Kalfakakou
./. 17 - c.702G>A r.(=) p.(=) g.37055947G>A - MLH1_000033 rs35908749 - - - Despoina Kalfakakou
./. 1 - c.876G>A r.(=) p.(=) g.37059082G>A - MLH1_000069 - - - - Despoina Kalfakakou
./. 2 - c.884+15A>G r.(=) p.(=) g.37059105A>G - MLH1_000075 - - - - Despoina Kalfakakou
./. 2 - c.884+39G>A r.(=) p.(=) g.37059129G>A - MLH1_000048 - - - - Despoina Kalfakakou
./. 1 - c.885-39A>G r.(=) p.(=) g.37061762A>G - MLH1_000087 - - - - Despoina Kalfakakou
./. 4 - c.885-26_885-23del r.(=) p.(=) g.37061775_37061778del - MLH1_000065 - - - - Despoina Kalfakakou
./. 2 - c.885-24T>A r.(=) p.(=) g.37061777T>A - MLH1_000039 - - - - Despoina Kalfakakou
./. 6 - c.885-21_885-20del r.(=) p.(=) g.37061780_37061781del - MLH1_000020 - - - - Despoina Kalfakakou
./. 1 - c.954C>T r.(=) p.(=) g.37061870C>T - MLH1_000040 - - - - Despoina Kalfakakou
./. 16 - c.977T>C r.(?) p.(Val326Ala) g.37061893T>C - MLH1_000017 rs63751049 - - - Despoina Kalfakakou
./. 1 - c.1038+9G>A r.(=) p.(=) g.37061963G>A - MLH1_000041 - - - - Despoina Kalfakakou
./. 3 - c.1039-47A>C r.(=) p.(=) g.37067081A>C - MLH1_000001 - - - - Despoina Kalfakakou
./. 10 - c.1039-45A>C r.(=) p.(=) g.37067083A>C - MLH1_000002 - - - - Despoina Kalfakakou
./. 3 - c.1039-36_1039-28del r.(=) p.(=) g.37067092_37067100del - MLH1_000054 - - - - Despoina Kalfakakou
./. 16 - c.1039-34_1039-28del r.(=) p.(=) g.37067094_37067100del - MLH1_000013 - - - - Despoina Kalfakakou
./. 1 - c.1039-34_1039-27del r.(=) p.(=) g.37067094_37067101del - MLH1_000073 - - - - Despoina Kalfakakou
./. 122 - c.1039-34_1039-26del r.(=) p.(=) g.37067094_37067102del - MLH1_000003 - - - - Despoina Kalfakakou
./. 9 - c.1039-33A>T r.(=) p.(=) g.37067095A>T - MLH1_000004 - - - - Despoina Kalfakakou
./. 2 - c.1039-33_1039-27del r.(=) p.(=) g.37067095_37067101del - MLH1_000027 - - - - Despoina Kalfakakou
./. 88 - c.1039-33_1039-26del r.(=) p.(=) g.37067095_37067102del - MLH1_000024 - - - - Despoina Kalfakakou
./. 2 - c.1039-32_1039-28del r.(=) p.(=) g.37067096_37067100del - MLH1_000090 - - - - Despoina Kalfakakou
./. 1 - c.1039-32_1039-27del r.(=) p.(=) g.37067096_37067101del - MLH1_000084 - - - - Despoina Kalfakakou
./. 45 - c.1039-32_1039-26del r.(=) p.(=) g.37067096_37067102del - MLH1_000005 rs71831268 - - - Despoina Kalfakakou
./. 34 - c.1039-32_1039-25del r.(=) p.(=) g.37067096_37067103del - MLH1_000058 - - - - Despoina Kalfakakou
./. 1 - c.1039-32_1039-24del r.(=) p.(=) g.37067096_37067104del - MLH1_000072 - - - - Despoina Kalfakakou
./. 1 - c.1039-31_1039-27del r.(=) p.(=) g.37067097_37067101del - MLH1_000096 - - - - Despoina Kalfakakou
./. 7 - c.1039-31_1039-26del r.(=) p.(=) g.37067097_37067102del - MLH1_000042 rs71831268 - - - Despoina Kalfakakou
./. 4 - c.1039-31_1039-25del r.(=) p.(=) g.37067097_37067103del - MLH1_000059 - - - - Despoina Kalfakakou
./. 1 - c.1039-30_1039-28del r.(=) p.(=) g.37067098_37067100del - MLH1_000117 - - - - Despoina Kalfakakou
./. 6 - c.1039-30_1039-26del r.(=) p.(=) g.37067098_37067102del - MLH1_000006 - - - - Despoina Kalfakakou
./. 1 - c.1039-30_1039-25del r.(=) p.(=) g.37067098_37067103del - MLH1_000124 - - - - Despoina Kalfakakou
./. 2 - c.1039-30_1039-24del r.(=) p.(=) g.37067098_37067104del - MLH1_000043 - - - - Despoina Kalfakakou
./. 4 - c.1039-29del r.(=) p.(=) g.37067099del - MLH1_000095 rs67853601 - - - Despoina Kalfakakou
./. 2 - c.1039-29_1039-28insTAT r.(=) p.(=) g.37067099_37067100insTAT - MLH1_000081 - - - - Despoina Kalfakakou
./. 3 - c.1039-29_1039-28insTATAT r.(=) p.(=) g.37067099_37067100insTATAT - MLH1_000082 - - - - Despoina Kalfakakou
./. 1 - c.1039-29_1039-28insTATT r.(=) p.(=) g.37067099_37067100insTATT - MLH1_000088 - - - - Despoina Kalfakakou
./. 3 - c.1039-28del r.(=) p.(=) g.37067100del - MLH1_000061 - - - - Despoina Kalfakakou
./. 1 - c.1039-28dup r.(=) p.(=) g.37067100dup - MLH1_000060 - - - - Despoina Kalfakakou
./. 8 - c.1039-28_1039-27insA r.(=) p.(=) g.37067100_37067101insA - MLH1_000014 rs57509953 - - - Despoina Kalfakakou
./. 1 - c.1039-28_1039-27insATA r.(=) p.(=) g.37067100_37067101insATA - MLH1_000078 rs57509953 - - - Despoina Kalfakakou
./. 1 - c.1039-28_1039-27insATATATA r.(=) p.(=) g.37067100_37067101insATATATA - MLH1_000044 rs57509953 - - - Despoina Kalfakakou
./. 1 - c.1039-28_1039-27insTTT r.(=) p.(=) g.37067100_37067101insTTT - MLH1_000100 - - - - Despoina Kalfakakou
./. 1 - c.1039-28_1039-27insTTTTT r.(=) p.(=) g.37067100_37067101insTTTTT - MLH1_000105 - - - - Despoina Kalfakakou
./. 19 - c.1039-26T>A r.(=) p.(=) g.37067102T>A - MLH1_000007 - - - - Despoina Kalfakakou
./. 10 - c.1039-25T>A r.(=) p.(=) g.37067103T>A - MLH1_000008 - - - - Despoina Kalfakakou
./. 1 - c.1039-24T>A r.(=) p.(=) g.37067104T>A - MLH1_000115 - - - - Despoina Kalfakakou
./. 1 - c.1039-8_1039-7insA r.(=) p.(=) g.37067120_37067121insA - MLH1_000102 - - - - Despoina Kalfakakou
./. 1 - c.1039-8_1039-7insTTTT r.(=) p.(=) g.37067120_37067121insTTTT - MLH1_000025 - - - - Despoina Kalfakakou
./. 1 - c.1039-8_1039-7insTTTTA r.(=) p.(=) g.37067120_37067121insTTTTA - MLH1_000085 - - - - Despoina Kalfakakou
./. 4 - c.1039-8_1039-7insTTTTTA r.(=) p.(=) g.37067120_37067121insTTTTTA - MLH1_000101 - - - - Despoina Kalfakakou
./. 8 - c.1039-8_1039-7insTTTTTTA r.(=) p.(=) g.37067120_37067121insTTTTTTA - MLH1_000062 - - - - Despoina Kalfakakou
./. 3 - c.1039-8_1039-7insTTTTTTTA r.(=) p.(=) g.37067120_37067121insTTTTTTTA - MLH1_000092 - - - - Despoina Kalfakakou
./. 1 - c.1039-3C>A r.spl? p.? g.37067125C>A - MLH1_000034 - - - - Despoina Kalfakakou
./. 1 - c.1039-1G>T r.spl? p.? g.37067127G>T - MLH1_000026 - - - - Despoina Kalfakakou
./. 2 - c.1154G>A r.(?) p.(Arg385His) g.37067243G>A - MLH1_000009 rs63750430 - - - Despoina Kalfakakou
./. 10 - c.1217G>A r.(?) p.(Ser406Asn) g.37067306G>A - MLH1_000010 rs41294980 - - - Despoina Kalfakakou
./. 1 - c.1268G>A r.(?) p.(Arg423Lys) g.37067357G>A - MLH1_000118 - - - - Despoina Kalfakakou
./. 7 - c.1321G>A r.(?) p.(Ala441Thr) g.37067410G>A - MLH1_000011 rs63750365 - - - Despoina Kalfakakou
./. 5 - c.1360G>C r.(?) p.(Gly454Arg) g.37067449G>C - MLH1_000035 rs63750527 - - - Despoina Kalfakakou
./. 1 - c.1409+1G>A r.spl? p.? g.37067499G>A - MLH1_000103 - - - - Despoina Kalfakakou
./. 1 - c.1451A>G r.(?) p.(Asp484Gly) g.37070316A>G - MLH1_000123 - - - - Despoina Kalfakakou
./. 1 - c.1490G>A r.(?) p.(Arg497Gln) g.37070355G>A - MLH1_000120 - - - - Despoina Kalfakakou
./. 1 - c.1559-46G>A r.(=) p.(=) g.37081631G>A - MLH1_000086 - - - - Despoina Kalfakakou
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