All transcript variants in gene ABHD12B

Information The variants shown are described using the NM_001206673.1 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.307G>A r.(?) p.(Val103Ile) g.51345537G>A Copied from the Exome Variant Server ABHD12B_000001 1/12250 0/8298 1/3952
?/? c.335+34T>C r.(=) p.(=) g.51345599T>C Copied from the Exome Variant Server ABHD12B_000002 85/12500 77/8386 8/4114
?/? c.335+89G>A r.(=) p.(=) g.51345654G>A Copied from the Exome Variant Server ABHD12B_000003 48/4566 43/3182 5/1384
?/? c.336-8C>T r.(=) p.(=) g.51347162C>T Copied from the Exome Variant Server ABHD12B_000004 1/13006 1/8600 0/4406
?/? c.355C>G r.(?) p.(Arg119Gly) g.51347189C>G Copied from the Exome Variant Server ABHD12B_000005 2/13006 2/8600 0/4406
?/? c.356G>A r.(?) p.(Arg119Gln) g.51347190G>A Copied from the Exome Variant Server ABHD12B_000006 3/13006 2/8600 1/4406
?/? c.361G>T r.(?) p.(Glu121*) g.51347195G>T Copied from the Exome Variant Server ABHD12B_000007 1/13006 1/8600 0/4406
?/? c.382T>C r.(?) p.(Cys128Arg) g.51347216T>C Copied from the Exome Variant Server ABHD12B_000008 1/13006 1/8600 0/4406
?/? c.390G>T r.(?) p.(Trp130Cys) g.51347224G>T Copied from the Exome Variant Server ABHD12B_000009 1/13006 1/8600 0/4406
?/? c.398C>T r.(?) p.(Ala133Val) g.51347232C>T Copied from the Exome Variant Server ABHD12B_000010 1/13006 0/8600 1/4406
?/? c.406C>T r.(?) p.(Arg136Cys) g.51347240C>T Copied from the Exome Variant Server ABHD12B_000011 1/13006 0/8600 1/4406
?/? c.407G>C r.(?) p.(Arg136Pro) g.51347241G>C Copied from the Exome Variant Server ABHD12B_000012 4/13006 0/8600 4/4406
?/? c.455+3C>T r.spl? p.? g.51347292C>T Copied from the Exome Variant Server ABHD12B_000013 1/13006 1/8600 0/4406
?/? c.455+22del r.(=) p.(=) g.51347311del Copied from the Exome Variant Server ABHD12B_000015 17/12518 14/8254 3/4264
?/? c.455+22dup r.(=) p.(=) g.51347311dup Copied from the Exome Variant Server ABHD12B_000014 20/12518 10/8254 10/4264
?/? c.486+1G>T r.spl? p.? g.51348345G>T Copied from the Exome Variant Server ABHD12B_000016 91/13006 80/8600 11/4406
?/? c.486+27C>G r.(=) p.(=) g.51348371C>G Copied from the Exome Variant Server ABHD12B_000017 1/13006 1/8600 0/4406
?/? c.486+35T>C r.(=) p.(=) g.51348379T>C Copied from the Exome Variant Server ABHD12B_000018 17/13006 17/8600 0/4406
?/? c.486+59A>G r.(=) p.(=) g.51348403A>G Copied from the Exome Variant Server ABHD12B_000019 1/4566 0/3182 1/1384
?/? c.486+76C>A r.(=) p.(=) g.51348420C>A Copied from the Exome Variant Server ABHD12B_000020 5/4566 0/3182 5/1384
?/? c.486+77G>A r.(=) p.(=) g.51348421G>A Copied from the Exome Variant Server ABHD12B_000021 278/4566 180/3182 98/1384
?/? c.487-64_487-62del r.(=) p.(=) g.51352268_51352270del Copied from the Exome Variant Server ABHD12B_000022 1/12518 0/8254 1/4264
?/? c.487-1G>C r.spl? p.? g.51352331G>C Copied from the Exome Variant Server ABHD12B_000023 2/13006 2/8600 0/4406
?/? c.500G>A r.(?) p.(Gly167Asp) g.51352345G>A Copied from the Exome Variant Server ABHD12B_000024 568/13006 502/8600 66/4406
?/? c.532+15C>T r.(=) p.(=) g.51352392C>T Copied from the Exome Variant Server ABHD12B_000025 1/13006 0/8600 1/4406
?/? c.532+26G>A r.(=) p.(=) g.51352403G>A Copied from the Exome Variant Server ABHD12B_000026 1/13006 1/8600 0/4406
?/? c.533-41T>C r.(=) p.(=) g.51352443T>C Copied from the Exome Variant Server ABHD12B_000027 1/13006 1/8600 0/4406
?/? c.533-29A>C r.(=) p.(=) g.51352455A>C Copied from the Exome Variant Server ABHD12B_000028 6/13006 6/8600 0/4406
?/? c.533-20T>C r.(=) p.(=) g.51352464T>C Copied from the Exome Variant Server ABHD12B_000029 4/13006 3/8600 1/4406
?/? c.536T>C r.(?) p.(Phe179Ser) g.51352487T>C Copied from the Exome Variant Server ABHD12B_000030 1/13006 0/8600 1/4406
?/? c.544T>G r.(?) p.(Ser182Ala) g.51352495T>G Copied from the Exome Variant Server ABHD12B_000031 4/13006 0/8600 4/4406
?/? c.562G>C r.(?) p.(Glu188Gln) g.51352513G>C Copied from the Exome Variant Server ABHD12B_000032 1/13006 1/8600 0/4406
?/? c.575C>T r.(?) p.(Thr192Ile) g.51352526C>T Copied from the Exome Variant Server ABHD12B_000033 2/13006 2/8600 0/4406
?/? c.583G>A r.(?) p.(Ala195Thr) g.51352534G>A Copied from the Exome Variant Server ABHD12B_000034 2/13006 0/8600 2/4406
?/? c.604A>G r.(?) p.(Thr202Ala) g.51352555A>G Copied from the Exome Variant Server ABHD12B_000035 12/13006 1/8600 11/4406
?/? c.615A>G r.(=) p.(=) g.51352566A>G Copied from the Exome Variant Server ABHD12B_000036 187/13006 3/8600 184/4406
?/? c.616A>C r.(?) p.(Ser206Arg) g.51352567A>C Copied from the Exome Variant Server ABHD12B_000037 1/13006 1/8600 0/4406
?/? c.630C>T r.(=) p.(=) g.51352581C>T Copied from the Exome Variant Server ABHD12B_000038 3/13006 1/8600 2/4406
?/? c.657T>C r.(=) p.(=) g.51352608T>C Copied from the Exome Variant Server ABHD12B_000039 895/13006 411/8600 484/4406
?/? c.663-36T>G r.(=) p.(=) g.51353329T>G Copied from the Exome Variant Server ABHD12B_000040 1/12994 1/8600 0/4394
?/? c.681del r.(?) p.(Val229Cysfs*2) g.51353383del Copied from the Exome Variant Server ABHD12B_000041 1/12512 0/8254 1/4258
?/? c.700+7T>A r.(=) p.(=) g.51353409T>A Copied from the Exome Variant Server ABHD12B_000042 1/12990 1/8600 0/4390
?/? c.700+21G>T r.(=) p.(=) g.51353423G>T Copied from the Exome Variant Server ABHD12B_000043 1/12990 1/8594 0/4396
?/? c.700+50G>C r.(=) p.(=) g.51353452G>C Copied from the Exome Variant Server ABHD12B_000044 1/12962 1/8576 0/4386
?/? c.701-38G>T r.(=) p.(=) g.51355504G>T Copied from the Exome Variant Server ABHD12B_000045 54/13006 49/8600 5/4406
?/? c.701-35T>C r.(=) p.(=) g.51355507T>C Copied from the Exome Variant Server ABHD12B_000046 1/13006 0/8600 1/4406
?/? c.701-25C>A r.(=) p.(=) g.51355517C>A Copied from the Exome Variant Server ABHD12B_000047 8627/13006 5953/8600 2674/4406
?/? c.701-21C>A r.(=) p.(=) g.51355521C>A Copied from the Exome Variant Server ABHD12B_000048 4/13006 2/8600 2/4406
?/? c.735A>G r.(=) p.(=) g.51355576A>G Copied from the Exome Variant Server ABHD12B_000049 1/13006 1/8600 0/4406
?/? c.755C>A r.(?) p.(Ala252Glu) g.51355596C>A Copied from the Exome Variant Server ABHD12B_000050 15/13006 0/8600 15/4406
?/? c.780+31C>G r.(=) p.(=) g.51355652C>G Copied from the Exome Variant Server ABHD12B_000051 1/13006 0/8600 1/4406
?/? c.780+51C>T r.(=) p.(=) g.51355672C>T Copied from the Exome Variant Server ABHD12B_000052 1/13006 1/8600 0/4406
?/? c.781-52G>A r.(=) p.(=) g.51368495G>A Copied from the Exome Variant Server ABHD12B_000053 1678/10168 1251/7072 427/3096
?/? c.781-25_781-24insT r.(=) p.(=) g.51368522_51368523insT Copied from the Exome Variant Server ABHD12B_000054 65/12298 45/8164 20/4134
?/? c.787C>T r.(?) p.(Arg263Trp) g.51368553C>T Copied from the Exome Variant Server ABHD12B_000055 2/12996 0/8594 2/4402
?/? c.813A>G r.(=) p.(=) g.51368579A>G Copied from the Exome Variant Server ABHD12B_000056 11/12998 10/8592 1/4406
?/? c.818T>C r.(?) p.(Met273Thr) g.51368584T>C Copied from the Exome Variant Server ABHD12B_000057 10/12998 7/8592 3/4406
?/? c.842T>C r.(?) p.(Ile281Thr) g.51368608T>C Copied from the Exome Variant Server ABHD12B_000058 2/12998 0/8592 2/4406
?/? c.844A>G r.(?) p.(Ile282Val) g.51368610A>G Copied from the Exome Variant Server ABHD12B_000059 2310/12998 1637/8592 673/4406
?/? c.846C>A r.(=) p.(=) g.51368612C>A Copied from the Exome Variant Server ABHD12B_000060 1/12998 0/8592 1/4406
?/? c.863+57del r.(=) p.(=) g.51368686del Copied from the Exome Variant Server ABHD12B_000061 113/12504 2/8242 111/4262
?/? c.864-58A>G r.(=) p.(=) g.51370049A>G Copied from the Exome Variant Server ABHD12B_000062 1/4566 1/3182 0/1384
?/? c.864-45A>T r.(=) p.(=) g.51370062A>T Copied from the Exome Variant Server ABHD12B_000063 1/13006 0/8600 1/4406
?/? c.891C>T r.(=) p.(=) g.51370134C>T Copied from the Exome Variant Server ABHD12B_000064 5/13006 3/8600 2/4406
?/? c.899A>G r.(?) p.(His300Arg) g.51370142A>G Copied from the Exome Variant Server ABHD12B_000065 10/13006 2/8600 8/4406
?/? c.906G>A r.(=) p.(=) g.51370149G>A Copied from the Exome Variant Server ABHD12B_000066 1/13006 1/8600 0/4406
?/? c.916A>C r.(?) p.(Thr306Pro) g.51370159A>C Copied from the Exome Variant Server ABHD12B_000067 1/13006 0/8600 1/4406
?/? c.919G>C r.(?) p.(Val307Leu) g.51370162G>C Copied from the Exome Variant Server ABHD12B_000068 1/13006 1/8600 0/4406
?/? c.933_934insG r.(?) p.(Lys313Glufs*5) g.51370176_51370177insG Copied from the Exome Variant Server ABHD12B_000069 1/12518 1/8254 0/4264
?/? c.942+7del r.(=) p.(=) g.51370192del Copied from the Exome Variant Server ABHD12B_000070 1/12518 0/8254 1/4264
?/? c.942+17A>G r.(=) p.(=) g.51370202A>G Copied from the Exome Variant Server ABHD12B_000071 1/13006 0/8600 1/4406
?/? c.943-9C>T r.(=) p.(=) g.51370783C>T Copied from the Exome Variant Server ABHD12B_000072 1/13006 0/8600 1/4406
?/? c.943-8G>C r.(=) p.(=) g.51370784G>C Copied from the Exome Variant Server ABHD12B_000073 2320/13006 1644/8600 676/4406
?/? c.958C>T r.(?) p.(Arg320Cys) g.51370807C>T Copied from the Exome Variant Server ABHD12B_000074 38/13006 36/8600 2/4406
?/? c.1000T>C r.(?) p.(Phe334Leu) g.51370849T>C Copied from the Exome Variant Server ABHD12B_000075 872/13006 313/8600 559/4406
?/? c.1003C>G r.(?) p.(Pro335Ala) g.51370852C>G Copied from the Exome Variant Server ABHD12B_000076 1169/13006 717/8600 452/4406
?/? c.1061+21T>C r.(=) p.(=) g.51370931T>C Copied from the Exome Variant Server ABHD12B_000077 1/13006 0/8600 1/4406
?/? c.1062-25G>A r.(=) p.(=) g.51371032G>A Copied from the Exome Variant Server ABHD12B_000078 35/13006 0/8600 35/4406
?/? c.1086A>C r.(=) p.(=) g.51371081A>C Copied from the Exome Variant Server ABHD12B_000079 380/13006 151/8600 229/4406
?/? c.*37C>T r.(=) p.(=) g.51371121C>T Copied from the Exome Variant Server ABHD12B_000080 2318/13006 1643/8600 675/4406
?/? c.*46C>T r.(=) p.(=) g.51371130C>T Copied from the Exome Variant Server ABHD12B_000081 1953/13006 1642/8600 311/4406
?/? c.*66C>T r.(=) p.(=) g.51371150C>T Copied from the Exome Variant Server ABHD12B_000082 774/4566 582/3182 192/1384
?/? c.*71G>A r.(=) p.(=) g.51371155G>A Copied from the Exome Variant Server ABHD12B_000083 1/4566 0/3182 1/1384
Legend