Full data view for gene TMEM143

Information The variants shown are described using the NM_018273.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
Legend  

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.4A>G r.(?) p.(Thr2Ala) g.48867174T>C Copied from the Exome Variant Server TMEM143_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.21A>G r.(=) p.(=) g.48867157T>C Copied from the Exome Variant Server TMEM143_000091 3/13006 3/8600 0/4406 - - - - - - -
?/? c.23+19G>A r.(=) p.(=) g.48867136C>T Copied from the Exome Variant Server TMEM143_000090 6/13006 0/8600 6/4406 - - - - - - -
?/? c.23+44C>T r.(=) p.(=) g.48867111G>A Copied from the Exome Variant Server TMEM143_000089 5/13006 0/8600 5/4406 - - - - - - -
?/? c.23+51C>T r.(=) p.(=) g.48867104G>A Copied from the Exome Variant Server TMEM143_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.24-25C>T r.(=) p.(=) g.48866813G>A Copied from the Exome Variant Server TMEM143_000087 13/12994 0/8590 13/4404 - - - - - - -
?/? c.24-8C>T r.(=) p.(=) g.48866796G>A Copied from the Exome Variant Server TMEM143_000086 44/12990 41/8590 3/4400 - - - - - - -
?/? c.25C>T r.(?) p.(Leu9Phe) g.48866787G>A Copied from the Exome Variant Server TMEM143_000085 3/12990 0/8586 3/4404 - - - - - - -
?/? c.53A>C r.(?) p.(His18Pro) g.48866759T>G Copied from the Exome Variant Server TMEM143_000084 1/13004 1/8598 0/4406 - - - - - - -
?/? c.93G>A r.(?) p.(Trp31*) g.48866719C>T Copied from the Exome Variant Server TMEM143_000083 2/12996 2/8592 0/4404 - - - - - - -
?/? c.148A>G r.(?) p.(Lys50Glu) g.48866664T>C Copied from the Exome Variant Server TMEM143_000082 1/13004 0/8598 1/4406 - - - - - - -
?/? c.158A>C r.(?) p.(Glu53Ala) g.48866654T>G Copied from the Exome Variant Server TMEM143_000081 1/13004 1/8598 0/4406 - - - - - - -
?/? c.182G>A r.(?) p.(Arg61Lys) g.48866630C>T Copied from the Exome Variant Server TMEM143_000080 1/13002 1/8596 0/4406 - - - - - - -
?/? c.218G>A r.(?) p.(Arg73His) g.48866594C>T Copied from the Exome Variant Server TMEM143_000079 1/13004 1/8598 0/4406 - - - - - - -
?/? c.244C>T r.(=) p.(=) g.48866568G>A Copied from the Exome Variant Server TMEM143_000078 3/12996 0/8592 3/4404 - - - - - - -
?/? c.264+5C>G r.spl? p.? g.48866543G>C Copied from the Exome Variant Server TMEM143_000077 6/12962 0/8566 6/4396 - - - - - - -
?/? c.264+8C>T r.(=) p.(=) g.48866540G>A Copied from the Exome Variant Server TMEM143_000076 3/12948 0/8554 3/4394 - - - - - - -
?/? c.264+13C>T r.(=) p.(=) g.48866535G>A Copied from the Exome Variant Server TMEM143_000075 1/12920 0/8536 1/4384 - - - - - - -
?/? c.264+18C>G r.(=) p.(=) g.48866530G>C Copied from the Exome Variant Server TMEM143_000074 1/12926 1/8544 0/4382 - - - - - - -
?/? c.264+32_264+33insG r.(=) p.(=) g.48866515_48866516insC Copied from the Exome Variant Server TMEM143_000073 26/12262 14/8096 12/4166 - - - - - - -
?/? c.264+38G>A r.(=) p.(=) g.48866510C>T Copied from the Exome Variant Server TMEM143_000072 1/12848 1/8506 0/4342 - - - - - - -
?/? c.264+40C>G r.(=) p.(=) g.48866508G>C Copied from the Exome Variant Server TMEM143_000071 18/12856 0/8512 18/4344 - - - - - - -
?/? c.265-48G>A r.(=) p.(=) g.48863481C>T Copied from the Exome Variant Server TMEM143_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.265-46G>A r.(=) p.(=) g.48863479C>T Copied from the Exome Variant Server TMEM143_000066 15/13006 0/8600 15/4406 - - - - - - -
?/? c.265-26del r.(=) p.(=) g.48863459del Copied from the Exome Variant Server TMEM143_000064 3/12518 3/8254 0/4264 - - - - - - -
?/? c.265-3C>T r.spl? p.? g.48863436G>A Copied from the Exome Variant Server TMEM143_000070 243/13006 131/8600 112/4406 - - - - - - -
?/? c.274T>A r.(?) p.(Ser92Thr) g.48863424A>T Copied from the Exome Variant Server TMEM143_000069 9/13006 8/8600 1/4406 - - - - - - -
?/? c.294G>A r.(=) p.(=) g.48863404C>T Copied from the Exome Variant Server TMEM143_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.312G>A r.(=) p.(=) g.48863386C>T Copied from the Exome Variant Server TMEM143_000065 6906/13006 5265/8600 1641/4406 - - - - - - -
?/? c.313G>T r.(?) p.(Ala105Ser) g.48863385C>A Copied from the Exome Variant Server TMEM143_000063 6/13006 5/8600 1/4406 - - - - - - -
?/? c.319G>A r.(?) p.(Val107Met) g.48863379C>T Copied from the Exome Variant Server TMEM143_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349C>A r.(?) p.(Gln117Lys) g.48863349G>T Copied from the Exome Variant Server TMEM143_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.361C>T r.(?) p.(Arg121Trp) g.48863337G>A Copied from the Exome Variant Server TMEM143_000060 2/13006 0/8600 2/4406 - - - - - - -
?/? c.369+8C>T r.(=) p.(=) g.48863321G>A Copied from the Exome Variant Server TMEM143_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.369+9G>A r.(=) p.(=) g.48863320C>T Copied from the Exome Variant Server TMEM143_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.369+39G>A r.(=) p.(=) g.48863290C>T Copied from the Exome Variant Server TMEM143_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.370-44T>G r.(=) p.(=) g.48848655A>C Copied from the Exome Variant Server TMEM143_000056 3/13006 0/8600 3/4406 - - - - - - -
?/? c.384del r.(?) p.(Ile129Serfs*13) g.48848597del Copied from the Exome Variant Server TMEM143_000055 1/12518 1/8254 0/4264 - - - - - - -
?/? c.396C>G r.(?) p.(Asp132Glu) g.48848585G>C Copied from the Exome Variant Server TMEM143_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.399G>A r.(=) p.(=) g.48848582C>T Copied from the Exome Variant Server TMEM143_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.425C>T r.(?) p.(Thr142Met) g.48848556G>A Copied from the Exome Variant Server TMEM143_000052 2/13006 1/8600 1/4406 - - - - - - -
?/? c.427G>A r.(?) p.(Asp143Asn) g.48848554C>T Copied from the Exome Variant Server TMEM143_000051 93/13006 86/8600 7/4406 - - - - - - -
?/? c.452A>G r.(?) p.(Gln151Arg) g.48848529T>C Copied from the Exome Variant Server TMEM143_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.475C>A r.(?) p.(Pro159Thr) g.48848506G>T Copied from the Exome Variant Server TMEM143_000049 40/13006 0/8600 40/4406 - - - - - - -
?/? c.504G>A r.(=) p.(=) g.48848477C>T Copied from the Exome Variant Server TMEM143_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.48848453G>A Copied from the Exome Variant Server TMEM143_000047 5/13006 0/8600 5/4406 - - - - - - -
?/? c.537G>C r.(=) p.(=) g.48848444C>G Copied from the Exome Variant Server TMEM143_000046 15/13006 0/8600 15/4406 - - - - - - -
?/? c.584A>G r.(?) p.(Gln195Arg) g.48846689T>C Copied from the Exome Variant Server TMEM143_000045 5/13000 5/8600 0/4400 - - - - - - -
?/? c.608C>T r.(?) p.(Ala203Val) g.48846665G>A Copied from the Exome Variant Server TMEM143_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.619C>T r.(?) p.(Arg207*) g.48846654G>A Copied from the Exome Variant Server TMEM143_000043 1/13004 1/8600 0/4404 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.48846646C>T Copied from the Exome Variant Server TMEM143_000042 167/13004 127/8598 40/4406 - - - - - - -
?/? c.636C>T r.(=) p.(=) g.48846637G>A Copied from the Exome Variant Server TMEM143_000041 1/13004 1/8598 0/4406 - - - - - - -
?/? c.661C>T r.(?) p.(Arg221Cys) g.48846612G>A Copied from the Exome Variant Server TMEM143_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.662G>A r.(?) p.(Arg221His) g.48846611C>T Copied from the Exome Variant Server TMEM143_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.667T>C r.(?) p.(Phe223Leu) g.48846606A>G Copied from the Exome Variant Server TMEM143_000038 8/13006 0/8600 8/4406 - - - - - - -
?/? c.696-33G>A r.(=) p.(=) g.48846099C>T Copied from the Exome Variant Server TMEM143_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.709C>T r.(?) p.(Arg237Trp) g.48846053G>A Copied from the Exome Variant Server TMEM143_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.725C>T r.(?) p.(Ala242Val) g.48846037G>A Copied from the Exome Variant Server TMEM143_000035 4/13006 3/8600 1/4406 - - - - - - -
?/? c.740G>C r.(?) p.(Gly247Ala) g.48846022C>G Copied from the Exome Variant Server TMEM143_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.773C>T r.(?) p.(Pro258Leu) g.48845989G>A Copied from the Exome Variant Server TMEM143_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.809A>C r.(?) p.(Lys270Thr) g.48845953T>G Copied from the Exome Variant Server TMEM143_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.814C>T r.(?) p.(Arg272Cys) g.48845948G>A Copied from the Exome Variant Server TMEM143_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272His) g.48845947C>T Copied from the Exome Variant Server TMEM143_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.818C>T r.(?) p.(Thr273Met) g.48845944G>A Copied from the Exome Variant Server TMEM143_000029 3/13006 0/8600 3/4406 - - - - - - -
?/? c.837C>G r.(=) p.(=) g.48845925G>C Copied from the Exome Variant Server TMEM143_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.847C>G r.(?) p.(Leu283Val) g.48845915G>C Copied from the Exome Variant Server TMEM143_000027 31/13006 0/8600 31/4406 - - - - - - -
?/? c.868G>A r.(?) p.(Val290Met) g.48845894C>T Copied from the Exome Variant Server TMEM143_000026 2/13006 1/8600 1/4406 - - - - - - -
?/? c.906C>G r.(=) p.(=) g.48845856G>C Copied from the Exome Variant Server TMEM143_000025 1/13004 1/8598 0/4406 - - - - - - -
?/? c.906del r.(?) p.(Asp303Thrfs*101) g.48845856del Copied from the Exome Variant Server TMEM143_000024 17/12516 13/8252 4/4264 - - - - - - -
?/? c.907G>A r.(?) p.(Asp303Asn) g.48845855C>T Copied from the Exome Variant Server TMEM143_000023 2/13004 0/8598 2/4406 - - - - - - -
?/? c.924C>T r.(=) p.(=) g.48845838G>A Copied from the Exome Variant Server TMEM143_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.936G>A r.(=) p.(=) g.48845826C>T Copied from the Exome Variant Server TMEM143_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.942C>T r.(=) p.(=) g.48845820G>A Copied from the Exome Variant Server TMEM143_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.946G>A r.(?) p.(Ala316Thr) g.48845816C>T Copied from the Exome Variant Server TMEM143_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.975+10C>T r.(=) p.(=) g.48845777G>A Copied from the Exome Variant Server TMEM143_000014 2841/12978 2529/8588 312/4390 - - - - - - -
?/? c.975+18A>G r.(=) p.(=) g.48845769T>C Copied from the Exome Variant Server TMEM143_000020 1/12972 0/8584 1/4388 - - - - - - -
?/? c.975+19C>T r.(=) p.(=) g.48845768G>A Copied from the Exome Variant Server TMEM143_000018 2/12972 2/8584 0/4388 - - - - - - -
?/? c.976-3C>T r.spl? p.? g.48837457G>A Copied from the Exome Variant Server TMEM143_000016 2/12802 2/8470 0/4332 - - - - - - -
?/? c.993C>T r.(=) p.(=) g.48837437G>A Copied from the Exome Variant Server TMEM143_000015 2/12866 0/8516 2/4350 - - - - - - -
?/? c.1017G>A r.(=) p.(=) g.48837413C>T Copied from the Exome Variant Server TMEM143_000013 45/12966 0/8578 45/4388 - - - - - - -
?/? c.1049A>G r.(?) p.(Asn350Ser) g.48837381T>C Copied from the Exome Variant Server TMEM143_000012 1/12986 1/8592 0/4394 - - - - - - -
?/? c.1066G>C r.(?) p.(Ala356Pro) g.48837364C>G Copied from the Exome Variant Server TMEM143_000011 1/12984 0/8588 1/4396 - - - - - - -
?/? c.1166-24G>A r.(=) p.(=) g.48836714C>T Copied from the Exome Variant Server TMEM143_000010 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1183C>A N/A N/A g.48836673G>T Copied from the Exome Variant Server TMEM143_000009 5071/13006 3792/8600 1279/4406 - - - - - - -
?/? c.1277C>G r.(?) p.(Pro426Arg) g.48836579G>C Copied from the Exome Variant Server TMEM143_000008 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1285G>A r.(?) p.(Gly429Arg) g.48836571C>T Copied from the Exome Variant Server TMEM143_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1293C>A r.(?) p.(Tyr431*) g.48836563G>T Copied from the Exome Variant Server TMEM143_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1302G>A r.(=) p.(=) g.48836554C>T Copied from the Exome Variant Server TMEM143_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1364G>T r.(?) p.(Ser455Ile) g.48836492C>A Copied from the Exome Variant Server TMEM143_000004 1/13000 1/8596 0/4404 - - - - - - -
?/? c.*9T>C r.(=) p.(=) g.48836467A>G Copied from the Exome Variant Server TMEM143_000003 3/13000 0/8596 3/4404 - - - - - - -
?/? c.*38A>T r.(=) p.(=) g.48836438T>A Copied from the Exome Variant Server TMEM143_000002 1/12986 0/8592 1/4394 - - - - - - -
?/? c.*50C>T r.(=) p.(=) g.48836426G>A Copied from the Exome Variant Server TMEM143_000001 5/12976 0/8586 5/4390 - - - - - - -
Legend