All transcript variants in gene MLH1

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

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-33T>G r.(=) p.(=) g.37035006T>G Copied from the Exome Variant Server MLH1_000001 1/13006 1/8600 0/4406
?/? c.-28A>G r.(=) p.(=) g.37035011A>G Copied from the Exome Variant Server MLH1_000002 4/13006 4/8600 0/4406
?/? c.-7C>T r.(=) p.(=) g.37035032C>T Copied from the Exome Variant Server MLH1_000003 4/13006 4/8600 0/4406
?/? c.52C>T r.(?) p.(Arg18Cys) g.37035090C>T Copied from the Exome Variant Server MLH1_000004 1/13006 1/8600 0/4406
?/? c.65G>C r.(?) p.(Gly22Ala) g.37035103G>C Copied from the Exome Variant Server MLH1_000005 1/13006 1/8600 0/4406
?/? c.80G>A r.(?) p.(Arg27Gln) g.37035118G>A Copied from the Exome Variant Server MLH1_000006 1/13006 1/8600 0/4406
?/? c.94A>G r.(?) p.(Ile32Val) g.37035132A>G Copied from the Exome Variant Server MLH1_000007 1/13006 0/8600 1/4406
?/? c.116+35C>T r.(=) p.(=) g.37035189C>T Copied from the Exome Variant Server MLH1_000008 1/13006 1/8600 0/4406
?/? c.116+49G>A r.(=) p.(=) g.37035203G>A Copied from the Exome Variant Server MLH1_000009 4/13000 0/8596 4/4404
?/? c.117-48A>G r.(=) p.(=) g.37038062A>G Copied from the Exome Variant Server MLH1_000010 3/13006 3/8600 0/4406
?/? c.117-29G>A r.(=) p.(=) g.37038081G>A Copied from the Exome Variant Server MLH1_000011 1/13006 1/8600 0/4406
?/? c.144A>C r.(?) p.(Gln48His) g.37038137A>C Copied from the Exome Variant Server MLH1_000012 1/13006 0/8600 1/4406
?/? c.191A>G r.(?) p.(Asn64Ser) g.37038184A>G Copied from the Exome Variant Server MLH1_000013 1/13006 1/8600 0/4406
?/? c.198C>T r.(=) p.(=) g.37038191C>T Copied from the Exome Variant Server MLH1_000014 8/13006 7/8600 1/4406
?/? c.207+35C>T r.(=) p.(=) g.37038235C>T Copied from the Exome Variant Server MLH1_000015 2/13006 2/8600 0/4406
?/? c.207+37C>T r.(=) p.(=) g.37038237C>T Copied from the Exome Variant Server MLH1_000016 1/13006 1/8600 0/4406
?/? c.207+41A>G r.(=) p.(=) g.37038241A>G Copied from the Exome Variant Server MLH1_000017 3/13006 3/8600 0/4406
?/? c.208-46A>T r.(=) p.(=) g.37042400A>T Copied from the Exome Variant Server MLH1_000018 1/13000 1/8596 0/4404
?/? c.277A>G r.(?) p.(Ser93Gly) g.37042515A>G Copied from the Exome Variant Server MLH1_000019 1/13006 1/8600 0/4406
?/? c.299G>A r.(?) p.(Arg100Gln) g.37042537G>A Copied from the Exome Variant Server MLH1_000020 1/13006 1/8600 0/4406
?/? c.306+4A>G r.spl? p.? g.37042548A>G Copied from the Exome Variant Server MLH1_000021 1/13006 1/8600 0/4406
?/? c.306+48A>T r.(=) p.(=) g.37042592A>T Copied from the Exome Variant Server MLH1_000022 5/13006 5/8600 0/4406
?/? c.307-29C>A r.(=) p.(=) g.37045863C>A Copied from the Exome Variant Server MLH1_000023 43/13006 28/8600 15/4406
?/? c.307-19A>G r.(=) p.(=) g.37045873A>G Copied from the Exome Variant Server MLH1_000024 6/13006 5/8600 1/4406
?/? c.317G>A r.(?) p.(Ser106Asn) g.37045902G>A Copied from the Exome Variant Server MLH1_000025 1/13006 0/8600 1/4406
?/? c.343A>G r.(?) p.(Ile115Val) g.37045928A>G Copied from the Exome Variant Server MLH1_000026 1/13006 1/8600 0/4406
?/? c.375A>G r.(=) p.(=) g.37045960A>G Copied from the Exome Variant Server MLH1_000027 8/13006 8/8600 0/4406
?/? c.381-41A>G r.(=) p.(=) g.37048441A>G Copied from the Exome Variant Server MLH1_000028 255/12994 3/8600 252/4394
?/? c.394G>C r.(?) p.(Asp132His) g.37048495G>C Copied from the Exome Variant Server MLH1_000029 1/13006 1/8600 0/4406
?/? c.438A>G r.(=) p.(=) g.37048539A>G Copied from the Exome Variant Server MLH1_000030 1/13006 1/8600 0/4406
?/? c.453G>A r.(=) p.(=) g.37048554G>A Copied from the Exome Variant Server MLH1_000031 1/13006 1/8600 0/4406
?/? c.453+14A>G r.(=) p.(=) g.37048568A>G Copied from the Exome Variant Server MLH1_000032 1/13006 0/8600 1/4406
?/? c.453+25A>G r.(=) p.(=) g.37048579A>G Copied from the Exome Variant Server MLH1_000034 43/13006 28/8600 15/4406
?/? c.453+50A>G r.(=) p.(=) g.37048604A>G Copied from the Exome Variant Server MLH1_000036 2/12998 1/8596 1/4402
?/? c.454-51T>C r.(=) p.(=) g.37050254T>C Copied from the Exome Variant Server MLH1_000038 440/13006 261/8600 179/4406
?/? c.454-15C>T r.(=) p.(=) g.37050290C>T Copied from the Exome Variant Server MLH1_000040 1/13006 0/8600 1/4406
?/? c.474C>T r.(=) p.(=) g.37050325C>T Copied from the Exome Variant Server MLH1_000041 178/13006 1/8600 177/4406
?/? c.545+19G>T r.(=) p.(=) g.37050415G>T Copied from the Exome Variant Server MLH1_000043 1/13006 1/8600 0/4406
?/? c.545+20A>T r.(=) p.(=) g.37050416A>T Copied from the Exome Variant Server MLH1_000045 61/13006 0/8600 61/4406
?/? c.545+23G>C r.(=) p.(=) g.37050419G>C Copied from the Exome Variant Server MLH1_000047 1/13006 0/8600 1/4406
?/? c.545+43C>G r.(=) p.(=) g.37050439C>G Copied from the Exome Variant Server MLH1_000033 1/13006 1/8600 0/4406
?/? c.545+51T>G r.(=) p.(=) g.37050447T>G Copied from the Exome Variant Server MLH1_000035 1/13006 0/8600 1/4406
?/? c.546-75A>C r.(=) p.(=) g.37053236A>C Copied from the Exome Variant Server MLH1_000037 138/4564 1/3180 137/1384
?/? c.546-67del r.(=) p.(=) g.37053244del Copied from the Exome Variant Server MLH1_000039 1/12492 1/8248 0/4244
?/? c.546-40T>C r.(=) p.(=) g.37053271T>C Copied from the Exome Variant Server MLH1_000042 21/13002 0/8598 21/4404
?/? c.546-35A>G r.(=) p.(=) g.37053276A>G Copied from the Exome Variant Server MLH1_000044 1/13004 1/8598 0/4406
?/? c.588+11G>C r.(=) p.(=) g.37053364G>C Copied from the Exome Variant Server MLH1_000046 138/13006 0/8600 138/4406
?/? c.589-41G>A r.(=) p.(=) g.37053461G>A Copied from the Exome Variant Server MLH1_000048 1/13006 1/8600 0/4406
?/? c.589-36A>G r.(=) p.(=) g.37053466A>G Copied from the Exome Variant Server MLH1_000049 4/13006 3/8600 1/4406
?/? c.589-34T>C r.(=) p.(=) g.37053468T>C Copied from the Exome Variant Server MLH1_000050 3/13006 3/8600 0/4406
?/? c.589-28C>G r.(=) p.(=) g.37053474C>G Copied from the Exome Variant Server MLH1_000051 1/13006 1/8600 0/4406
?/? c.589-25G>A r.(=) p.(=) g.37053477G>A Copied from the Exome Variant Server MLH1_000052 11/13006 1/8600 10/4406
?/? c.589-15C>T r.(=) p.(=) g.37053487C>T Copied from the Exome Variant Server MLH1_000053 63/13006 0/8600 63/4406
?/? c.589-7T>G r.(=) p.(=) g.37053495T>G Copied from the Exome Variant Server MLH1_000054 1/13006 1/8600 0/4406
?/? c.626A>G r.(?) p.(Asn209Ser) g.37053539A>G Copied from the Exome Variant Server MLH1_000055 1/13006 0/8600 1/4406
?/? c.636C>T r.(=) p.(=) g.37053549C>T Copied from the Exome Variant Server MLH1_000056 1/13006 1/8600 0/4406
?/? c.637G>A r.(?) p.(Val213Met) g.37053550G>A Copied from the Exome Variant Server MLH1_000057 111/13006 1/8600 110/4406
?/? c.655A>G r.(?) p.(Ile219Val) g.37053568A>G Copied from the Exome Variant Server MLH1_000058 3160/13006 2754/8600 406/4406
?/? c.677+41T>C r.(=) p.(=) g.37053631T>C Copied from the Exome Variant Server MLH1_000059 1/13006 1/8600 0/4406
?/? c.695G>T r.(?) p.(Gly232Val) g.37055940G>T Copied from the Exome Variant Server MLH1_000060 1/13006 1/8600 0/4406
?/? c.702G>A r.(=) p.(=) g.37055947G>A Copied from the Exome Variant Server MLH1_000061 6/13006 6/8600 0/4406
?/? c.790+10A>G r.(=) p.(=) g.37056045A>G Copied from the Exome Variant Server MLH1_000062 20/13006 19/8600 1/4406
?/? c.791-40A>G r.(=) p.(=) g.37058957A>G Copied from the Exome Variant Server MLH1_000063 3/13006 0/8600 3/4406
?/? c.803A>G r.(?) p.(Glu268Gly) g.37059009A>G Copied from the Exome Variant Server MLH1_000064 3/13006 3/8600 0/4406
?/? c.808A>G r.(?) p.(Thr270Ala) g.37059014A>G Copied from the Exome Variant Server MLH1_000065 1/13006 1/8600 0/4406
?/? c.843A>C r.(=) p.(=) g.37059049A>C Copied from the Exome Variant Server MLH1_000066 1/13006 1/8600 0/4406
?/? c.884+15A>G r.(=) p.(=) g.37059105A>G Copied from the Exome Variant Server MLH1_000067 1/13006 0/8600 1/4406
?/? c.884+16A>G r.(=) p.(=) g.37059106A>G Copied from the Exome Variant Server MLH1_000068 2/13006 2/8600 0/4406
?/? c.884+39G>A r.(=) p.(=) g.37059129G>A Copied from the Exome Variant Server MLH1_000069 5/13006 4/8600 1/4406
?/? c.885-30G>C r.(=) p.(=) g.37061771G>C Copied from the Exome Variant Server MLH1_000070 1/13006 1/8600 0/4406
?/? c.885-26_885-23del r.(=) p.(=) g.37061775_37061778del Copied from the Exome Variant Server MLH1_000071 1/12520 1/8254 0/4266
?/? c.885-24T>A r.(=) p.(=) g.37061777T>A Copied from the Exome Variant Server MLH1_000072 17/13006 14/8600 3/4406
?/? c.885-21_885-20del r.(=) p.(=) g.37061780_37061781del Copied from the Exome Variant Server MLH1_000073 112/12520 27/8254 85/4266
?/? c.925C>T r.(?) p.(Pro309Ser) g.37061841C>T Copied from the Exome Variant Server MLH1_000074 1/13006 1/8600 0/4406
?/? c.927C>A r.(=) p.(=) g.37061843C>A Copied from the Exome Variant Server MLH1_000075 1/13006 0/8600 1/4406
?/? c.943C>T r.(?) p.(His315Tyr) g.37061859C>T Copied from the Exome Variant Server MLH1_000076 1/13006 1/8600 0/4406
?/? c.954C>T r.(=) p.(=) g.37061870C>T Copied from the Exome Variant Server MLH1_000077 1/13006 0/8600 1/4406
?/? c.977T>C r.(?) p.(Val326Ala) g.37061893T>C Copied from the Exome Variant Server MLH1_000078 11/13006 10/8600 1/4406
?/? c.990C>T r.(=) p.(=) g.37061906C>T Copied from the Exome Variant Server MLH1_000079 1/13006 1/8600 0/4406
?/? c.1013A>G r.(?) p.(Asn338Ser) g.37061929A>G Copied from the Exome Variant Server MLH1_000080 1/13006 1/8600 0/4406
?/? c.1020C>G r.(=) p.(=) g.37061936C>G Copied from the Exome Variant Server MLH1_000082 1/13006 1/8600 0/4406
?/? c.1038+51C>T r.(=) p.(=) g.37062005C>T Copied from the Exome Variant Server MLH1_000084 63/13004 0/8598 63/4406
?/? c.1039-35_1039-29del r.(=) p.(=) g.37067093_37067099del Copied from the Exome Variant Server MLH1_000086 1021/2034 788/1512 233/522
?/? c.1039-34_1039-25del r.(=) p.(=) g.37067094_37067103del Copied from the Exome Variant Server MLH1_000088 153/2730 83/2016 70/714
?/? c.1039-33_1039-29del r.(=) p.(=) g.37067095_37067099del Copied from the Exome Variant Server MLH1_000090 1347/2306 1006/1702 341/604
?/? c.1039-33_1039-26del r.(=) p.(=) g.37067095_37067102del Copied from the Exome Variant Server MLH1_000092 377/2730 310/2016 67/714
?/? c.1039-33_1039-25del r.(=) p.(=) g.37067095_37067103del Copied from the Exome Variant Server MLH1_000094 684/2730 549/2016 135/714
?/? c.1039-32_1039-25del r.(=) p.(=) g.37067096_37067103del Copied from the Exome Variant Server MLH1_000097 786/3326 555/2446 231/880
?/? c.1039-31_1039-29del r.(=) p.(=) g.37067097_37067099del Copied from the Exome Variant Server MLH1_000099 1540/2652 1141/1984 399/668
?/? c.1039-31_1039-27del r.(=) p.(=) g.37067097_37067101del Copied from the Exome Variant Server MLH1_000101 282/3326 216/2446 66/880
?/? c.1039-31_1039-25del r.(=) p.(=) g.37067097_37067103del Copied from the Exome Variant Server MLH1_000081 608/3326 535/2446 73/880
?/? c.1039-29del r.(=) p.(=) g.37067099del Copied from the Exome Variant Server MLH1_000083 1359/3030 994/2278 365/752
?/? c.1039-28_1039-27insATATA r.(=) p.(=) g.37067100_37067101insATATA Copied from the Exome Variant Server MLH1_000085 1005/4920 853/3596 152/1324
?/? c.1039-28_1039-24del r.(=) p.(=) g.37067100_37067104del Copied from the Exome Variant Server MLH1_000087 406/4214 288/3108 118/1106
?/? c.1039-27_1039-21del r.(=) p.(=) g.37067101_37067107del Copied from the Exome Variant Server MLH1_000089 542/4920 398/3596 144/1324
?/? c.1039-26_1039-24del r.(=) p.(=) g.37067102_37067104del Copied from the Exome Variant Server MLH1_000091 859/4214 759/3108 100/1106
?/? c.1039-8_1039-7insA r.(=) p.(=) g.37067120_37067121insA Copied from the Exome Variant Server MLH1_000093 723/11648 325/7826 398/3822
?/? c.1039-4A>G r.spl? p.? g.37067124A>G Copied from the Exome Variant Server MLH1_000095 1/12922 0/8572 1/4350
?/? c.1040C>A r.(?) p.(Thr347Asn) g.37067129C>A Copied from the Exome Variant Server MLH1_000096 1/12986 1/8598 0/4388
?/? c.1050A>G r.(=) p.(=) g.37067139A>G Copied from the Exome Variant Server MLH1_000098 1/12996 1/8600 0/4396
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