All transcript variants in gene MSH2

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

189 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.-23C>G r.(=) p.(=) g.47630308C>G Copied from the Exome Variant Server MSH2_000007 1/12974 0/8592 1/4382
?/? c.6G>T r.(=) p.(=) g.47630336G>T Copied from the Exome Variant Server MSH2_000009 1/12970 1/8582 0/4388
?/? c.18G>C r.(?) p.(Lys6Asn) g.47630348G>C Copied from the Exome Variant Server MSH2_000011 1/12960 0/8574 1/4386
?/? c.23C>T r.(?) p.(Thr8Met) g.47630353C>T Copied from the Exome Variant Server MSH2_000001 2/12950 1/8570 1/4380
?/? c.42G>A r.(=) p.(=) g.47630372G>A Copied from the Exome Variant Server MSH2_000002 1/12978 1/8584 0/4394
?/? c.55T>C r.(?) p.(Phe19Leu) g.47630385T>C Copied from the Exome Variant Server MSH2_000003 8/12980 0/8586 8/4394
?/? c.128A>G r.(?) p.(Tyr43Cys) g.47630458A>G Copied from the Exome Variant Server MSH2_000004 1/12972 1/8584 0/4388
?/? c.138C>G r.(?) p.(His46Gln) g.47630468C>G Copied from the Exome Variant Server MSH2_000005 3/12966 2/8586 1/4380
?/? c.174C>T r.(=) p.(=) g.47630504C>T Copied from the Exome Variant Server MSH2_000006 1/12960 1/8574 0/4386
?/? c.211+8C>T r.(=) p.(=) g.47630549C>T Copied from the Exome Variant Server MSH2_000008 2/12730 2/8436 0/4294
?/? c.211+9C>G r.(=) p.(=) g.47630550C>G Copied from the Exome Variant Server MSH2_000010 6036/12684 3011/8418 3025/4266
?/? c.212-51G>T r.(=) p.(=) g.47635489G>T Copied from the Exome Variant Server MSH2_000012 1/13000 0/8598 1/4402
?/? c.212-16_212-15del r.(=) p.(=) g.47635524_47635525del Copied from the Exome Variant Server MSH2_000013 37/12512 16/8246 21/4266
?/? c.212-15del r.(=) p.(=) g.47635525del Copied from the Exome Variant Server MSH2_000015 723/12512 440/8246 283/4266
?/? c.212-15dup r.(=) p.(=) g.47635525dup Copied from the Exome Variant Server MSH2_000014 478/12512 330/8246 148/4266
?/? c.220A>C r.(?) p.(Asn74His) g.47635548A>C Copied from the Exome Variant Server MSH2_000016 2/13004 2/8598 0/4406
?/? c.273_275del r.(?) p.(Leu94del) g.47635601_47635603del Copied from the Exome Variant Server MSH2_000017 75/12516 50/8250 25/4266
?/? c.312G>C r.(?) p.(Lys104Asn) g.47635640G>C Copied from the Exome Variant Server MSH2_000019 1/13006 1/8600 0/4406
?/? c.317G>A r.(?) p.(Arg106Lys) g.47635645G>A Copied from the Exome Variant Server MSH2_000020 1/13004 1/8598 0/4406
?/? c.336C>A r.(=) p.(=) g.47635664C>A Copied from the Exome Variant Server MSH2_000022 1/13004 1/8598 0/4406
?/? c.339G>A r.(=) p.(=) g.47635667G>A Copied from the Exome Variant Server MSH2_000024 56/13004 45/8598 11/4406
?/? c.364A>C r.(?) p.(Lys122Gln) g.47635692A>C Copied from the Exome Variant Server MSH2_000026 1/13002 1/8596 0/4406
?/? c.367-49A>T r.(=) p.(=) g.47637184A>T Copied from the Exome Variant Server MSH2_000028 1/12648 1/8498 0/4150
?/? c.367-27A>C r.(=) p.(=) g.47637206A>C Copied from the Exome Variant Server MSH2_000030 4/12924 4/8590 0/4334
?/? c.380A>G r.(?) p.(Asn127Ser) g.47637246A>G Copied from the Exome Variant Server MSH2_000032 343/13006 4/8600 339/4406
?/? c.382C>G r.(?) p.(Leu128Val) g.47637248C>G Copied from the Exome Variant Server MSH2_000034 4/13006 3/8600 1/4406
?/? c.403C>G r.(?) p.(Leu135Val) g.47637269C>G Copied from the Exome Variant Server MSH2_000036 1/13006 1/8600 0/4406
?/? c.435T>G r.(?) p.(Ile145Met) g.47637301T>G Copied from the Exome Variant Server MSH2_000038 5/13006 5/8600 0/4406
?/? c.481G>A r.(?) p.(Val161Ile) g.47637347G>A Copied from the Exome Variant Server MSH2_000018 3/13006 0/8600 3/4406
?/? c.483T>G r.(=) p.(=) g.47637349T>G Copied from the Exome Variant Server MSH2_000021 1/13006 1/8600 0/4406
?/? c.499G>C r.(?) p.(Asp167His) g.47637365G>C Copied from the Exome Variant Server MSH2_000023 2/13006 2/8600 0/4406
?/? c.508C>G r.(?) p.(Gln170Glu) g.47637374C>G Copied from the Exome Variant Server MSH2_000025 1/13006 0/8600 1/4406
?/? c.521G>A r.(?) p.(Gly174Glu) g.47637387G>A Copied from the Exome Variant Server MSH2_000027 1/13006 1/8600 0/4406
?/? c.557A>G r.(?) p.(Asn186Ser) g.47637423A>G Copied from the Exome Variant Server MSH2_000029 5/13006 4/8600 1/4406
?/? c.566C>G r.(?) p.(Ala189Gly) g.47637432C>G Copied from the Exome Variant Server MSH2_000031 2/13006 2/8600 0/4406
?/? c.573C>T r.(=) p.(=) g.47637439C>T Copied from the Exome Variant Server MSH2_000033 258/13006 4/8600 254/4406
?/? c.594A>G r.(=) p.(=) g.47637460A>G Copied from the Exome Variant Server MSH2_000035 1/13006 0/8600 1/4406
?/? c.606C>G r.(=) p.(=) g.47637472C>G Copied from the Exome Variant Server MSH2_000037 2/13006 0/8600 2/4406
?/? c.613G>C r.(?) p.(Glu205Gln) g.47637479G>C Copied from the Exome Variant Server MSH2_000039 1/13006 1/8600 0/4406
?/? c.619G>A r.(?) p.(Ala207Thr) g.47637485G>A Copied from the Exome Variant Server MSH2_000040 1/13006 1/8600 0/4406
?/? c.645+49G>A r.(=) p.(=) g.47637560G>A Copied from the Exome Variant Server MSH2_000041 1/13006 0/8600 1/4406
?/? c.646-46del r.(=) p.(=) g.47639507del Copied from the Exome Variant Server MSH2_000042 10/12340 10/8180 0/4160
?/? c.646-42T>C r.(=) p.(=) g.47639511T>C Copied from the Exome Variant Server MSH2_000043 1/12884 0/8546 1/4338
?/? c.714T>C r.(=) p.(=) g.47639621T>C Copied from the Exome Variant Server MSH2_000044 1/13006 0/8600 1/4406
?/? c.727C>T r.(?) p.(Arg243Trp) g.47639634C>T Copied from the Exome Variant Server MSH2_000045 1/13006 0/8600 1/4406
?/? c.751G>A r.(?) p.(Glu251Lys) g.47639658G>A Copied from the Exome Variant Server MSH2_000046 1/13006 1/8600 0/4406
?/? c.755A>G r.(?) p.(Gln252Arg) g.47639662A>G Copied from the Exome Variant Server MSH2_000047 1/13006 1/8600 0/4406
?/? c.766G>A r.(?) p.(Ala256Thr) g.47639673G>A Copied from the Exome Variant Server MSH2_000048 1/13006 0/8600 1/4406
?/? c.792+5A>G r.spl? p.? g.47639704A>G Copied from the Exome Variant Server MSH2_000049 1/13004 1/8600 0/4404
?/? c.793-23G>A r.(=) p.(=) g.47641385G>A Copied from the Exome Variant Server MSH2_000050 204/13006 4/8600 200/4406
?/? c.795T>G r.(=) p.(=) g.47641410T>G Copied from the Exome Variant Server MSH2_000051 1/13006 1/8600 0/4406
?/? c.815C>T r.(?) p.(Ala272Val) g.47641430C>T Copied from the Exome Variant Server MSH2_000052 5/13006 5/8600 0/4406
?/? c.816G>A r.(=) p.(=) g.47641431G>A Copied from the Exome Variant Server MSH2_000053 1/13006 1/8600 0/4406
?/? c.818T>C r.(?) p.(Val273Ala) g.47641433T>C Copied from the Exome Variant Server MSH2_000054 2/13006 0/8600 2/4406
?/? c.819A>G r.(=) p.(=) g.47641434A>G Copied from the Exome Variant Server MSH2_000055 14/13006 0/8600 14/4406
?/? c.820A>G r.(?) p.(Ile274Val) g.47641435A>G Copied from the Exome Variant Server MSH2_000056 3/13006 0/8600 3/4406
?/? c.835C>G r.(?) p.(Leu279Val) g.47641450C>G Copied from the Exome Variant Server MSH2_000057 1/13006 1/8600 0/4406
?/? c.843A>T r.(=) p.(=) g.47641458A>T Copied from the Exome Variant Server MSH2_000058 2/13006 2/8600 0/4406
?/? c.885C>G r.(?) p.(Asp295Glu) g.47641500C>G Copied from the Exome Variant Server MSH2_000059 1/13006 0/8600 1/4406
?/? c.913G>A r.(?) p.(Ala305Thr) g.47641528G>A Copied from the Exome Variant Server MSH2_000060 1/13006 1/8600 0/4406
?/? c.943-42A>G r.(=) p.(=) g.47643393A>G Copied from the Exome Variant Server MSH2_000061 1/13006 1/8600 0/4406
?/? c.943-29_943-26del r.(=) p.(=) g.47643406_47643409del Copied from the Exome Variant Server MSH2_000062 1/12518 1/8254 0/4264
?/? c.958A>G r.(?) p.(Thr320Ala) g.47643450A>G Copied from the Exome Variant Server MSH2_000063 1/13006 1/8600 0/4406
?/? c.965G>A r.(?) p.(Gly322Asp) g.47643457G>A Copied from the Exome Variant Server MSH2_000064 148/13006 132/8600 16/4406
?/? c.968C>G r.(?) p.(Ser323Cys) g.47643460C>G Copied from the Exome Variant Server MSH2_000065 1/13006 1/8600 0/4406
?/? c.984C>T r.(=) p.(=) g.47643476C>T Copied from the Exome Variant Server MSH2_000066 15/13006 12/8600 3/4406
?/? c.1032G>C r.(?) p.(Gln344His) g.47643524G>C Copied from the Exome Variant Server MSH2_000067 1/13006 0/8600 1/4406
?/? c.1045C>G r.(?) p.(Pro349Ala) g.47643537C>G Copied from the Exome Variant Server MSH2_000068 1/13006 1/8600 0/4406
?/? c.1051A>G r.(?) p.(Met351Val) g.47643543A>G Copied from the Exome Variant Server MSH2_000069 1/13006 0/8600 1/4406
?/? c.1053G>C r.(?) p.(Met351Ile) g.47643545G>C Copied from the Exome Variant Server MSH2_000070 1/13006 1/8600 0/4406
?/? c.1070A>C r.(?) p.(Glu357Ala) g.47643562A>C Copied from the Exome Variant Server MSH2_000071 1/13006 1/8600 0/4406
?/? c.1076+20T>G r.(=) p.(=) g.47643588T>G Copied from the Exome Variant Server MSH2_000072 1/13006 1/8600 0/4406
?/? c.1076+23C>T r.(=) p.(=) g.47643591C>T Copied from the Exome Variant Server MSH2_000075 1/13006 0/8600 1/4406
?/? c.1076+24G>A r.(=) p.(=) g.47643592G>A Copied from the Exome Variant Server MSH2_000076 1/13006 0/8600 1/4406
?/? c.1076+51C>T r.(=) p.(=) g.47643619C>T Copied from the Exome Variant Server MSH2_000078 2/13006 1/8600 1/4406
?/? c.1077-10T>C r.(=) p.(=) g.47656871T>C Copied from the Exome Variant Server MSH2_000080 172/12896 155/8576 17/4320
?/? c.1077-7A>G r.(=) p.(=) g.47656874A>G Copied from the Exome Variant Server MSH2_000082 3/12906 0/8578 3/4328
?/? c.1087G>T r.(?) p.(Val363Leu) g.47656891G>T Copied from the Exome Variant Server MSH2_000084 2/13004 0/8600 2/4404
?/? c.1099G>A r.(?) p.(Val367Ile) g.47656903G>A Copied from the Exome Variant Server MSH2_000073 1/13006 1/8600 0/4406
?/? c.1109C>T r.(?) p.(Ala370Val) g.47656913C>T Copied from the Exome Variant Server MSH2_000074 1/13006 1/8600 0/4406
?/? c.1122G>C r.(?) p.(Gln374His) g.47656926G>C Copied from the Exome Variant Server MSH2_000077 1/13006 1/8600 0/4406
?/? c.1131A>G r.(=) p.(=) g.47656935A>G Copied from the Exome Variant Server MSH2_000079 1/13006 1/8600 0/4406
?/? c.1148G>C r.(?) p.(Arg383Pro) g.47656952G>C Copied from the Exome Variant Server MSH2_000081 1/13006 1/8600 0/4406
?/? c.1168C>T r.(?) p.(Leu390Phe) g.47656972C>T Copied from the Exome Variant Server MSH2_000083 1/13006 1/8600 0/4406
?/? c.1182T>G r.(?) p.(Phe394Leu) g.47656986T>G Copied from the Exome Variant Server MSH2_000085 1/13006 1/8600 0/4406
?/? c.1217G>A r.(?) p.(Arg406Gln) g.47657021G>A Copied from the Exome Variant Server MSH2_000086 1/13006 0/8600 1/4406
?/? c.1225C>G r.(?) p.(Gln409Glu) g.47657029C>G Copied from the Exome Variant Server MSH2_000087 1/13006 1/8600 0/4406
?/? c.1243C>G r.(?) p.(Pro415Ala) g.47657047C>G Copied from the Exome Variant Server MSH2_000088 1/13006 1/8600 0/4406
?/? c.1275A>G r.(=) p.(=) g.47657079A>G Copied from the Exome Variant Server MSH2_000089 2/13006 1/8600 1/4406
?/? c.1276+10G>A r.(=) p.(=) g.47657090G>A Copied from the Exome Variant Server MSH2_000090 1/13006 1/8600 0/4406
?/? c.1276+16G>A r.(=) p.(=) g.47657096G>A Copied from the Exome Variant Server MSH2_000091 1/13006 0/8600 1/4406
?/? c.1276+36C>G r.(=) p.(=) g.47657116C>G Copied from the Exome Variant Server MSH2_000092 1/13004 0/8600 1/4404
?/? c.1276+51C>A r.(=) p.(=) g.47657131C>A Copied from the Exome Variant Server MSH2_000093 256/12998 4/8594 252/4404
?/? c.1277-16T>C r.(=) p.(=) g.47672671T>C Copied from the Exome Variant Server MSH2_000094 10/12992 9/8592 1/4400
?/? c.1277-8T>C r.(=) p.(=) g.47672679T>C Copied from the Exome Variant Server MSH2_000095 26/12998 3/8594 23/4404
?/? c.1277-7C>A r.(=) p.(=) g.47672680C>A Copied from the Exome Variant Server MSH2_000096 1/12998 1/8594 0/4404
?/? c.1296G>A r.(=) p.(=) g.47672706G>A Copied from the Exome Variant Server MSH2_000097 1/12998 0/8596 1/4402
?/? c.1386+32G>T r.(=) p.(=) g.47672828G>T Copied from the Exome Variant Server MSH2_000098 1/12968 1/8580 0/4388
?/? c.1387-31A>G r.(=) p.(=) g.47690139A>G Copied from the Exome Variant Server MSH2_000099 1/13006 1/8600 0/4406
?/? c.1387-8G>T r.(=) p.(=) g.47690162G>T Copied from the Exome Variant Server MSH2_000100 21/13006 16/8600 5/4406
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