Full data view for gene TUFM

Information The variants shown are described using the NM_003321.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-34C>T r.(=) p.(=) g.28857624G>A Copied from the Exome Variant Server TUFM_000093 3/11894 3/7934 0/3960 - - - - - - -
?/? c.52+39T>G r.(=) p.(=) g.28857500A>C Copied from the Exome Variant Server TUFM_000092 5/12930 0/8570 5/4360 - - - - - - -
?/? c.53-45G>C r.(=) p.(=) g.28857472C>G Copied from the Exome Variant Server TUFM_000091 1/12976 0/8592 1/4384 - - - - - - -
?/? c.53-37C>G r.(=) p.(=) g.28857464G>C Copied from the Exome Variant Server TUFM_000090 1/12982 0/8594 1/4388 - - - - - - -
?/? c.53-11G>C r.(=) p.(=) g.28857438C>G Copied from the Exome Variant Server TUFM_000089 3/12982 3/8596 0/4386 - - - - - - -
?/? c.53G>A r.(?) p.(Gly18Asp) g.28857427C>T Copied from the Exome Variant Server TUFM_000088 1/12980 0/8592 1/4388 - - - - - - -
?/? c.64G>A r.(?) p.(Gly22Ser) g.28857416C>T Copied from the Exome Variant Server TUFM_000087 7/12980 0/8590 7/4390 - - - - - - -
?/? c.69G>C r.(=) p.(=) g.28857411C>G Copied from the Exome Variant Server TUFM_000086 1/12978 1/8588 0/4390 - - - - - - -
?/? c.77T>C r.(?) p.(Leu26Pro) g.28857403A>G Copied from the Exome Variant Server TUFM_000085 1/12976 1/8586 0/4390 - - - - - - -
?/? c.90G>C r.(=) p.(=) g.28857390C>G Copied from the Exome Variant Server TUFM_000084 1/12988 0/8594 1/4394 - - - - - - -
?/? c.113C>T r.(?) p.(Ala38Val) g.28857367G>A Copied from the Exome Variant Server TUFM_000083 1/12994 1/8600 0/4394 - - - - - - -
?/? c.117G>C r.(?) p.(Leu39Phe) g.28857363C>G Copied from the Exome Variant Server TUFM_000082 5/12994 0/8600 5/4394 - - - - - - -
?/? c.198C>T r.(=) p.(=) g.28857282G>A Copied from the Exome Variant Server TUFM_000081 387/12994 28/8600 359/4394 - - - - - - -
?/? c.211del r.(?) p.(His71Thrfs*6) g.28857269del Copied from the Exome Variant Server TUFM_000080 27/12518 23/8254 4/4264 - - - - - - -
?/? c.247+9G>A r.(=) p.(=) g.28857224C>T Copied from the Exome Variant Server TUFM_000079 1/12994 0/8600 1/4394 - - - - - - -
?/? c.248-30G>A r.(=) p.(=) g.28856831C>T Copied from the Exome Variant Server TUFM_000078 6/12994 0/8600 6/4394 - - - - - - -
?/? c.248-18G>A r.(=) p.(=) g.28856819C>T Copied from the Exome Variant Server TUFM_000077 3206/12994 2205/8600 1001/4394 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.28856782C>T Copied from the Exome Variant Server TUFM_000076 1/12994 1/8600 0/4394 - - - - - - -
?/? c.290A>C r.(?) p.(Glu97Ala) g.28856759T>G Copied from the Exome Variant Server TUFM_000075 1/12994 0/8600 1/4394 - - - - - - -
?/? c.299A>G r.(?) p.(Asn100Ser) g.28856750T>C Copied from the Exome Variant Server TUFM_000074 1/12994 1/8600 0/4394 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.28856728C>T Copied from the Exome Variant Server TUFM_000073 1/12994 0/8600 1/4394 - - - - - - -
?/? c.415-11C>T r.(=) p.(=) g.28856387G>A Copied from the Exome Variant Server TUFM_000072 1/12994 1/8600 0/4394 - - - - - - -
?/? c.415-6C>G r.(=) p.(=) g.28856382G>C Copied from the Exome Variant Server TUFM_000071 8/12994 0/8600 8/4394 - - - - - - -
?/? c.427G>A r.(?) p.(Gly143Ser) g.28856364C>T Copied from the Exome Variant Server TUFM_000070 3/12994 3/8600 0/4394 - - - - - - -
?/? c.444C>T r.(=) p.(=) g.28856347G>A Copied from the Exome Variant Server TUFM_000069 1/12994 0/8600 1/4394 - - - - - - -
?/? c.470A>G r.(?) p.(Asn157Ser) g.28856321T>C Copied from the Exome Variant Server TUFM_000068 1/12994 1/8600 0/4394 - - - - - - -
?/? c.493C>T r.(?) p.(Arg165*) g.28856298G>A Copied from the Exome Variant Server TUFM_000067 1/12994 1/8600 0/4394 - - - - - - -
?/? c.508C>T r.(=) p.(=) g.28856283G>A Copied from the Exome Variant Server TUFM_000066 1/12994 0/8600 1/4394 - - - - - - -
?/? c.519+32G>A r.(=) p.(=) g.28856240C>T Copied from the Exome Variant Server TUFM_000065 39/12994 0/8600 39/4394 - - - - - - -
?/? c.520-42G>A r.(=) p.(=) g.28856225C>T Copied from the Exome Variant Server TUFM_000064 1/12994 1/8600 0/4394 - - - - - - -
?/? c.520-15C>G r.(=) p.(=) g.28856198G>C Copied from the Exome Variant Server TUFM_000063 1/12994 0/8600 1/4394 - - - - - - -
?/? c.520-13C>G r.(=) p.(=) g.28856196G>C Copied from the Exome Variant Server TUFM_000062 21/12994 0/8600 21/4394 - - - - - - -
?/? c.520-8A>T r.(=) p.(=) g.28856191T>A Copied from the Exome Variant Server TUFM_000061 17/12994 17/8600 0/4394 - - - - - - -
?/? c.534T>C r.(=) p.(=) g.28856169A>G Copied from the Exome Variant Server TUFM_000060 1/12994 1/8600 0/4394 - - - - - - -
?/? c.558T>C r.(=) p.(=) g.28856145A>G Copied from the Exome Variant Server TUFM_000059 2/12994 0/8600 2/4394 - - - - - - -
?/? c.561C>T r.(=) p.(=) g.28856142G>A Copied from the Exome Variant Server TUFM_000058 1/12994 1/8600 0/4394 - - - - - - -
?/? c.574T>C r.(?) p.(Ser192Pro) g.28856129A>G Copied from the Exome Variant Server TUFM_000057 4/12994 0/8600 4/4394 - - - - - - -
?/? c.577G>C r.(?) p.(Glu193Gln) g.28856126C>G Copied from the Exome Variant Server TUFM_000056 1/12994 0/8600 1/4394 - - - - - - -
?/? c.619A>C r.(?) p.(Thr207Pro) g.28856084T>G Copied from the Exome Variant Server TUFM_000055 1/12994 1/8600 0/4394 - - - - - - -
?/? c.622G>A r.(?) p.(Glu208Lys) g.28856081C>T Copied from the Exome Variant Server TUFM_000054 17/12994 16/8600 1/4394 - - - - - - -
?/? c.684+6C>T r.(=) p.(=) g.28856013G>A Copied from the Exome Variant Server TUFM_000053 43/12994 42/8600 1/4394 - - - - - - -
?/? c.684+17G>A r.(=) p.(=) g.28856002C>T Copied from the Exome Variant Server TUFM_000052 1/12994 1/8600 0/4394 - - - - - - -
?/? c.684+28G>C r.(=) p.(=) g.28855991C>G Copied from the Exome Variant Server TUFM_000051 1/12994 0/8600 1/4394 - - - - - - -
?/? c.685-49G>A r.(=) p.(=) g.28855921C>T Copied from the Exome Variant Server TUFM_000050 1/12994 0/8600 1/4394 - - - - - - -
?/? c.685-32G>T r.(=) p.(=) g.28855904C>A Copied from the Exome Variant Server TUFM_000049 152/12994 1/8600 151/4394 - - - - - - -
?/? c.689G>A r.(?) p.(Arg230Gln) g.28855868C>T Copied from the Exome Variant Server TUFM_000048 1/12994 1/8600 0/4394 - - - - - - -
?/? c.736G>A r.(?) p.(Val246Met) g.28855821C>T Copied from the Exome Variant Server TUFM_000047 1/12994 1/8600 0/4394 - - - - - - -
?/? c.738G>A r.(=) p.(=) g.28855819C>T Copied from the Exome Variant Server TUFM_000046 1/12994 1/8600 0/4394 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.28855798G>A Copied from the Exome Variant Server TUFM_000045 2/12994 1/8600 1/4394 - - - - - - -
?/? c.760G>A r.(?) p.(Ala254Thr) g.28855797C>T Copied from the Exome Variant Server TUFM_000044 5/12994 5/8600 0/4394 - - - - - - -
?/? c.801G>A r.(=) p.(=) g.28855756C>T Copied from the Exome Variant Server TUFM_000043 1/12994 0/8600 1/4394 - - - - - - -
?/? c.817+13T>C r.(=) p.(=) g.28855727A>G Copied from the Exome Variant Server TUFM_000042 4478/12994 3283/8600 1195/4394 - - - - - - -
?/? c.817+19C>G r.(=) p.(=) g.28855721G>C Copied from the Exome Variant Server TUFM_000041 1/12994 1/8600 0/4394 - - - - - - -
?/? c.817+24G>A r.(=) p.(=) g.28855716C>T Copied from the Exome Variant Server TUFM_000040 9/12994 9/8600 0/4394 - - - - - - -
?/? c.818-34G>A r.(=) p.(=) g.28855689C>T Copied from the Exome Variant Server TUFM_000039 5/12994 5/8600 0/4394 - - - - - - -
?/? c.818-27del r.(=) p.(=) g.28855682del Copied from the Exome Variant Server TUFM_000038 1/12518 0/8254 1/4264 - - - - - - -
?/? c.828C>A r.(=) p.(=) g.28855645G>T Copied from the Exome Variant Server TUFM_000037 1/12994 1/8600 0/4394 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.28855606C>T Copied from the Exome Variant Server TUFM_000036 1/12994 1/8600 0/4394 - - - - - - -
?/? c.873C>T r.(=) p.(=) g.28855600G>A Copied from the Exome Variant Server TUFM_000035 3/12994 3/8600 0/4394 - - - - - - -
?/? c.890G>A r.(?) p.(Gly297Glu) g.28855583C>T Copied from the Exome Variant Server TUFM_000034 1/12994 0/8600 1/4394 - - - - - - -
?/? c.895A>G r.(?) p.(Ser299Gly) g.28855578T>C Copied from the Exome Variant Server TUFM_000033 1/12994 1/8600 0/4394 - - - - - - -
?/? c.909C>T r.(=) p.(=) g.28855564G>A Copied from the Exome Variant Server TUFM_000032 7/12994 0/8600 7/4394 - - - - - - -
?/? c.912T>C r.(=) p.(=) g.28855561A>G Copied from the Exome Variant Server TUFM_000031 1/12994 0/8600 1/4394 - - - - - - -
?/? c.922+16C>T r.(=) p.(=) g.28855535G>A Copied from the Exome Variant Server TUFM_000030 11/12994 0/8600 11/4394 - - - - - - -
?/? c.922+29C>G r.(=) p.(=) g.28855522G>C Copied from the Exome Variant Server TUFM_000029 4473/12994 3281/8600 1192/4394 - - - - - - -
?/? c.922+35T>C r.(=) p.(=) g.28855516A>G Copied from the Exome Variant Server TUFM_000028 1/12994 0/8600 1/4394 - - - - - - -
?/? c.923-40C>T r.(=) p.(=) g.28855462G>A Copied from the Exome Variant Server TUFM_000027 1/12994 0/8600 1/4394 - - - - - - -
?/? c.923-39G>T r.(=) p.(=) g.28855461C>A Copied from the Exome Variant Server TUFM_000026 1/12994 1/8600 0/4394 - - - - - - -
?/? c.923-10del r.(=) p.(=) g.28855432del Copied from the Exome Variant Server TUFM_000025 2/12518 1/8254 1/4264 - - - - - - -
?/? c.944G>A r.(?) p.(Ser315Asn) g.28855401C>T Copied from the Exome Variant Server TUFM_000024 1/12994 0/8600 1/4394 - - - - - - -
?/? c.951G>A r.(=) p.(=) g.28855394C>T Copied from the Exome Variant Server TUFM_000023 1/12994 1/8600 0/4394 - - - - - - -
?/? c.981C>G r.(=) p.(=) g.28855364G>C Copied from the Exome Variant Server TUFM_000022 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1013G>A r.(?) p.(Arg338Gln) g.28855332C>T Copied from the Exome Variant Server TUFM_000021 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1048A>G r.(?) p.(Lys350Glu) g.28855297T>C Copied from the Exome Variant Server TUFM_000020 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1074+18C>T N/A N/A g.28855253G>A Copied from the Exome Variant Server TUFM_000019 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1074+24G>A N/A N/A g.28855247C>T Copied from the Exome Variant Server TUFM_000018 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1074+36C>G r.(=) p.(=) g.28855235G>C Copied from the Exome Variant Server TUFM_000017 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1075-23C>T r.(=) p.(=) g.28855199G>A Copied from the Exome Variant Server TUFM_000016 11/12994 11/8600 0/4394 - - - - - - -
?/? c.1120G>A r.(?) p.(Val374Met) g.28855131C>T Copied from the Exome Variant Server TUFM_000015 11/12994 0/8600 11/4394 - - - - - - -
?/? c.1180C>T r.(=) p.(=) g.28855071G>A Copied from the Exome Variant Server TUFM_000014 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1185C>T r.(=) p.(=) g.28855066G>A Copied from the Exome Variant Server TUFM_000013 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1194+5G>A r.spl? p.? g.28855052C>T Copied from the Exome Variant Server TUFM_000012 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1194+25G>T r.(=) p.(=) g.28855032C>A Copied from the Exome Variant Server TUFM_000011 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1194+44A>G r.(=) p.(=) g.28855013T>C Copied from the Exome Variant Server TUFM_000010 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1195-26G>A r.(=) p.(=) g.28854495C>T Copied from the Exome Variant Server TUFM_000009 48/12994 4/8600 44/4394 - - - - - - -
?/? c.1195-3T>C r.spl? p.? g.28854472A>G Copied from the Exome Variant Server TUFM_000008 5/12994 4/8600 1/4394 - - - - - - -
?/? c.1249A>G r.(?) p.(Met417Val) g.28854415T>C Copied from the Exome Variant Server TUFM_000007 2/12994 1/8600 1/4394 - - - - - - -
?/? c.1292A>G r.(?) p.(Asn431Ser) g.28854372T>C Copied from the Exome Variant Server TUFM_000006 27/12994 0/8600 27/4394 - - - - - - -
?/? c.1325C>T r.(?) p.(Thr442Met) g.28854339G>A Copied from the Exome Variant Server TUFM_000005 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1364G>A r.(?) p.(Gly455Asp) g.28854300C>T Copied from the Exome Variant Server TUFM_000004 2/12994 1/8600 1/4394 - - - - - - -
?/? c.*15G>A r.(=) p.(=) g.28854281C>T Copied from the Exome Variant Server TUFM_000003 2/12994 0/8600 2/4394 - - - - - - -
?/? c.*24C>T r.(=) p.(=) g.28854272G>A Copied from the Exome Variant Server TUFM_000002 358/12994 2/8600 356/4394 - - - - - - -
?/? c.*37G>A r.(=) p.(=) g.28854259C>T Copied from the Exome Variant Server TUFM_000001 1/12994 1/8600 0/4394 - - - - - - -
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