Unique variants in gene MSH2

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

86 entries on 1 page. Showing entries 1 - 86.
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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     
./. 1 - c.-29C>T r.(=) p.(=) g.47630302C>T - MSH2_000074 - - - - Despoina Kalfakakou
./. 1 - c.-22C>T r.(=) p.(=) g.47630309C>T - MSH2_000066 - - - - Despoina Kalfakakou
./. 1 - c.4G>A r.(?) p.(Ala2Thr) g.47630334G>A - MSH2_000028 rs63750466 - - - Despoina Kalfakakou
./. 1 - c.62G>C r.(?) p.(Arg21Pro) g.47630392G>C - MSH2_000030 - - - - Despoina Kalfakakou
./. 2 - c.128A>G r.(?) p.(Tyr43Cys) g.47630458A>G - MSH2_000035 rs17217723 - - - Despoina Kalfakakou
./. 1 - c.211+8C>T r.(=) p.(=) g.47630549C>T - MSH2_000063 - - - - Despoina Kalfakakou
./. 1 - c.211+29A>G r.(=) p.(=) g.47630570A>G - MSH2_000014 - - - - Despoina Kalfakakou
./. 1 - c.211+33A>G r.(=) p.(=) g.47630574A>G - MSH2_000015 - - - - Despoina Kalfakakou
./. 1 - c.211+46T>G r.(=) p.(=) g.47630587T>G - MSH2_000060 - - - - Despoina Kalfakakou
./. 1 - c.245A>C r.(?) p.(Lys82Thr) g.47635573A>C - MSH2_000046 - - - - Despoina Kalfakakou
./. 3 - c.273_275del r.(?) p.(Leu94del) g.47635601_47635603del - MSH2_000056 - - - - Despoina Kalfakakou
./. 2 - c.274C>G r.(?) p.(Leu92Val) g.47635602C>G - MSH2_000029 - - - - Despoina Kalfakakou
./. 1 - c.296G>A r.(?) p.(Arg99Lys) g.47635624G>A - MSH2_000012 - - - - Despoina Kalfakakou
./. 3 - c.339G>A r.(=) p.(=) g.47635667G>A - MSH2_000036 rs35898375 - - - Despoina Kalfakakou
./. 1 - c.366+28del r.(=) p.(=) g.47635722del - MSH2_000031 - - - - Despoina Kalfakakou
./. 6 - c.366+43G>T r.(=) p.(=) g.47635737G>T - MSH2_000037 - - - - Despoina Kalfakakou
./. 1 - c.366+47A>G r.(=) p.(=) g.47635741A>G - MSH2_000071 - - - - Despoina Kalfakakou
./. 2 - c.367-49A>T r.(=) p.(=) g.47637184A>T - MSH2_000049 - - - - Despoina Kalfakakou
./. 7 - c.435T>G r.(?) p.(Ile145Met) g.47637301T>G - MSH2_000032 rs63750124 - - - Despoina Kalfakakou
./. 4 - c.499G>C r.(?) p.(Asp167His) g.47637365G>C - MSH2_000027 rs63750255 - - - Despoina Kalfakakou
./. 2 - c.557A>G r.(?) p.(Asn186Ser) g.47637423A>G - MSH2_000047 - - - - Despoina Kalfakakou
./. 1 - c.636A>G r.(=) p.(=) g.47637502A>G - MSH2_000013 - - - - Despoina Kalfakakou
./. 4 - c.646-46del r.(=) p.(=) g.47639507del - MSH2_000052 - - - - Despoina Kalfakakou
./. 1 - c.646-34C>T r.(=) p.(=) g.47639519C>T - MSH2_000083 - - - - Despoina Kalfakakou
./. 4 - c.815C>T r.(?) p.(Ala272Val) g.47641430C>T - MSH2_000055 rs34136999 - - - Despoina Kalfakakou
./. 1 - c.942+33T>A r.(=) p.(=) g.47641590T>A - MSH2_000072 - - - - Despoina Kalfakakou
./. 3 - c.965G>T r.(?) p.(Gly322Val) g.47643457G>T - MSH2_000016 rs4987188 - - - Despoina Kalfakakou
./. 24 - c.984C>T r.(=) p.(=) g.47643476C>T - MSH2_000010 rs4987189 - - - Despoina Kalfakakou
./. 2 - c.1032G>A r.(=) p.(=) g.47643524G>A - MSH2_000008 - - - - Despoina Kalfakakou
./. 5 - c.1043A>G r.(?) p.(Gln348Arg) g.47643535A>G - MSH2_000009 - - - - Despoina Kalfakakou
./. 1 - c.1045C>G r.(?) p.(Pro349Ala) g.47643537C>G - MSH2_000084 - - - - Despoina Kalfakakou
./. 1 - c.1052T>C r.(?) p.(Met351Thr) g.47643544T>C - MSH2_000080 - - - - Despoina Kalfakakou
./. 1 - c.1076+33A>G r.(=) p.(=) g.47643601A>G - MSH2_000065 - - - - Despoina Kalfakakou
./. 9 - c.1131A>G r.(=) p.(=) g.47656935A>G - MSH2_000017 - - - - Despoina Kalfakakou
./. 1 - c.1182T>G r.(?) p.(Phe394Leu) g.47656986T>G - MSH2_000053 - - - - Despoina Kalfakakou
./. 1 - c.1216C>T r.(?) p.(Arg406*) g.47657020C>T - MSH2_000048 rs63751108 - - - Despoina Kalfakakou
./. 1 - c.1252A>G r.(?) p.(Ile418Val) g.47657056A>G - MSH2_000023 - - - - Despoina Kalfakakou
./. 1 - c.1254A>G r.(?) p.(Ile418Met) g.47657058A>G - MSH2_000040 - - - - Despoina Kalfakakou
./. 1 - c.1276+47T>A r.(=) p.(=) g.47657127T>A - MSH2_000024 - - - - Despoina Kalfakakou
./. 1 - c.1284del r.(?) p.(Gln429Argfs*9) g.47672694del - MSH2_000033 - - - - Despoina Kalfakakou
./. 1 - c.1321A>C r.(?) p.(Thr441Pro) g.47672731A>C - MSH2_000061 - - - - Despoina Kalfakakou
./. 1 - c.1321A>T r.(?) p.(Thr441Ser) g.47672731A>T - MSH2_000041 - - - - Despoina Kalfakakou
./. 1 - c.1346A>G r.(?) p.(Lys449Arg) g.47672756A>G - MSH2_000001 - - - - Despoina Kalfakakou
./. 3 - c.1386+23T>G r.(=) p.(=) g.47672819T>G - MSH2_000050 - - - - Despoina Kalfakakou
./. 1 - c.1386+27C>A r.(=) p.(=) g.47672823C>A - MSH2_000042 - - - - Despoina Kalfakakou
./. 40 - c.1387-8G>T r.(=) p.(=) g.47690162G>T - MSH2_000002 - - - - Despoina Kalfakakou
./. 1 - c.1510+40C>G r.(=) p.(=) g.47690333C>G - MSH2_000073 - - - - Despoina Kalfakakou
./. 1 - c.1510+42A>T r.(=) p.(=) g.47690335A>T - MSH2_000076 - - - - Despoina Kalfakakou
./. 1 - c.1510+43T>C r.(=) p.(=) g.47690336T>C - MSH2_000077 - - - - Despoina Kalfakakou
./. 2 - c.1511-29T>C r.(=) p.(=) g.47693768T>C - MSH2_000059 - - - - Despoina Kalfakakou
./. 3 - c.1662-9G>A r.(=) p.(=) g.47698095G>A - MSH2_000025 rs17218356 - - - Despoina Kalfakakou
./. 29 - c.1666T>C r.(=) p.(=) g.47698108T>C - MSH2_000026 rs61756466 - - - Despoina Kalfakakou
./. 3 - c.1681G>A r.(?) p.(Glu561Lys) g.47698123G>A - MSH2_000034 - - - - Despoina Kalfakakou
./. 39 - c.1737A>G r.(=) p.(=) g.47698179A>G - MSH2_000003 rs61756467 - - - Despoina Kalfakakou
./. 1 - c.1748A>G r.(?) p.(Asn583Ser) g.47698190A>G - MSH2_000069 - - - - Despoina Kalfakakou
./. 1 - c.1759+9A>C r.(=) p.(=) g.47698210A>C - MSH2_000018 - - - - Despoina Kalfakakou
./. 1 - c.1759+42C>A r.(=) p.(=) g.47698243C>A - MSH2_000051 - - - - Despoina Kalfakakou
./. 1 - c.1760-3C>T r.spl? p.? g.47702161C>T - MSH2_000070 - - - - Despoina Kalfakakou
./. 1 - c.1774A>G r.(?) p.(Met592Val) g.47702178A>G - MSH2_000085 - - - - Despoina Kalfakakou
./. 5 - c.1787A>G r.(?) p.(Asn596Ser) g.47702191A>G - MSH2_000004 - - - - Despoina Kalfakakou
./. 1 - c.1821del r.(?) p.(Phe608Leufs*27) g.47702225del - MSH2_000081 - - - - Despoina Kalfakakou
./. 1 - c.1831G>A r.(?) p.(Val611Met) g.47702235G>A - MSH2_000005 - - - - Despoina Kalfakakou
./. 2 - c.1847C>G r.(?) p.(Pro616Arg) g.47702251C>G - MSH2_000011 - - - - Despoina Kalfakakou
./. 1 - c.1939G>T r.(?) p.(Glu647*) g.47702343G>T - MSH2_000043 rs63750078 - - - Despoina Kalfakakou
./. 1 - c.1967A>G r.(?) p.(Tyr656Cys) g.47702371A>G - MSH2_000006 - - - - Despoina Kalfakakou
./. 1 - c.1977A>G r.(=) p.(=) g.47702381A>G - MSH2_000057 - - - - Despoina Kalfakakou
./. 1 - c.2005+2_2005+3insA r.(=) p.(=) g.47702411_47702412insA - MSH2_000054 - - - - Despoina Kalfakakou
./. 1 - c.2005+29G>A r.(=) p.(=) g.47702438G>A - MSH2_000075 - - - - Despoina Kalfakakou
./. 1 - c.2005+36C>A r.(=) p.(=) g.47702445C>A - MSH2_000078 - - - - Despoina Kalfakakou
./. 1 - c.2005+47T>G r.(=) p.(=) g.47702456T>G - MSH2_000058 rs78692397 - - - Despoina Kalfakakou
./. 9 - c.2005+48_2005+49insG r.(=) p.(=) g.47702457_47702458insG - MSH2_000019 - - - - Despoina Kalfakakou
./. 15 - c.2005+49T>G r.(=) p.(=) g.47702458T>G - MSH2_000039 - - - - Despoina Kalfakakou
./. 3 - c.2005+50T>G r.(=) p.(=) g.47702459T>G - MSH2_000007 - - - - Despoina Kalfakakou
./. 1 - c.2038C>T r.(?) p.(Arg680*) g.47703538C>T - MSH2_000044 rs63749932 - - - Despoina Kalfakakou
./. 1 - c.2108C>G r.(?) p.(Ser703Cys) g.47703608C>G - MSH2_000068 - - - - Despoina Kalfakakou
./. 1 - c.2143G>C r.(?) p.(Gly715Arg) g.47703643G>C - MSH2_000062 - - - - Despoina Kalfakakou
./. 2 - c.2154A>G r.(=) p.(=) g.47703654A>G - MSH2_000045 rs63750810 - - - Despoina Kalfakakou
./. 1 - c.2164G>A r.(?) p.(Val722Ile) g.47703664G>A - MSH2_000038 - - - - Despoina Kalfakakou
./. 1 - c.2459-31G>C r.(=) p.(=) g.47707804G>C - MSH2_000086 - - - - Despoina Kalfakakou
./. 1 - c.2459-12A>G r.(=) p.(=) g.47707823A>G - MSH2_000067 - - - - Despoina Kalfakakou
./. 1 - c.2579C>T r.(?) p.(Ser860Leu) g.47707955C>T - MSH2_000020 rs63750849 - - - Despoina Kalfakakou
./. 1 - c.2621A>G r.(?) p.(Tyr874Cys) g.47707997A>G - MSH2_000082 - - - - Despoina Kalfakakou
./. 1 - c.2685C>T r.(=) p.(=) g.47709968C>T - MSH2_000064 - - - - Despoina Kalfakakou
./. 1 - c.2802G>A r.(=) p.(=) g.47710085G>A - MSH2_000079 - - - - Despoina Kalfakakou
./. 2 - c.*32G>C r.(=) p.(=) g.47710120G>C - MSH2_000021 - - - - Despoina Kalfakakou
./. 2 - c.*43G>T r.(=) p.(=) g.47710131G>T - MSH2_000022 - - - - Despoina Kalfakakou
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