Full data view for gene ABHD14A

Information The variants shown are described using the NM_015407.4 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-1203A>G r.(=) p.(=) Unknown g.52007949A>G - ABHD14B_000014 rs74823465 0.005814 3 516 6932 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-1151G>A r.(=) p.(=) Unknown g.52008001G>A - ABHD14B_000015 rs550705460 0.003876 2 516 5878 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-151G>T r.(=) p.(=) Unknown g.52009001G>T - ABHD14A_000001 rs113330889 0.019 10 516 3845 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.15G>A r.(=) p.(=) Unknown g.52009166G>A - ABHD14A_000002 rs1026411817 0.001938 1 516 3026 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.70-8C>T r.(=) p.(=) Unknown g.52011879C>T - ABHD14A_000003 rs411209 0.072 37 516 6224 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.89T>G r.(?) p.(Met30Arg) Unknown g.52011906T>G - ABHD14A_000004 rs148342997 0.001938 1 516 7264 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.95G>A r.(?) p.(Arg32Gln) Unknown g.52011912G>A - ABHD14A_000005 rs17849626 0.052 27 516 7509 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.108C>T r.(=) p.(=) Unknown g.52011925C>T - ABHD14A_000006 rs34991570 0.007752 4 516 7723 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.183C>G r.(?) p.(Cys61Trp) Unknown g.52012000C>G - ABHD14A_000007 rs404527 0.052 27 516 8373 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.282-76A>G r.(=) p.(=) Unknown g.52012199A>G - ABHD14A_000008 rs182475170 0.001938 1 516 7926 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.282-50G>T r.(=) p.(=) Unknown g.52012225G>T - ABHD14A_000009 rs200892968 0.005814 3 516 9072 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.282-25A>T r.(=) p.(=) Unknown g.52012250A>T - ABHD14A_000010 rs380788 0.052 27 516 9749 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.282-10G>C r.(=) p.(=) Unknown g.52012265G>C - ABHD14A_000011 rs75627697 0.023 12 516 9712 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.327G>A r.(=) p.(=) Unknown g.52012320G>A - ABHD14A_000012 rs41292350 0.012 6 516 9806 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.397+66G>T r.(=) p.(=) Unknown g.52012456G>T - ABHD14A_000013 rs433823 0.029 15 516 4388 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.397+90_397+91insGGGGATGGCGCTCGCTGAGCTGGCGCAGCGCGGCGCCGTGTGCACCGCCGACGCCGATCCAGTTGT r.(=) p.(=) Unknown g.52012480_52012481insGGGGATGGCGCTCGCTGAGCTGGCGCAGCGCGGCGCCGTGTGCACCGCCGACGCCGATCCAGTTGT - ABHD14A_000015 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.397+90_397+91insGGGGATGGCGCTCGCTGAGCTGGCGCAGCGCGGCGCCGTGTGCACCGCCGACGCCGATCCAGTTGTCAGGGGAGACTT r.(=) p.(=) Unknown g.52012480_52012481insGGGGATGGCGCTCGCTGAGCTGGCGCAGCGCGGCGCCGTGTGCACCGCCGACGCCGATCCAGTTGTCAGGGGAGACTT - ABHD14A_000014 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-224G>A r.(=) p.(=) Unknown g.52014185G>A - ABHD14A_000016 rs111495805 0.001938 1 516 2097 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-217C>T r.(=) p.(=) Unknown g.52014192C>T - ABHD14A_000017 rs143151084 0.012 6 516 2351 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-191G>A r.(=) p.(=) Unknown g.52014218G>A - ABHD14A_000018 rs539395292 0.003876 2 516 3130 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-180C>T r.(=) p.(=) Unknown g.52014229C>T - ABHD14A_000019 rs146674474 0.016 8 516 3449 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-153A>C r.(=) p.(=) Unknown g.52014256A>C - ABHD14A_000020 rs768525119 0.001938 1 516 4914 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.398-124C>A r.(=) p.(=) Unknown g.52014285C>A - ABHD14A_000021 rs116315797 0.003876 2 516 6607 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.475G>A r.(?) p.(Asp159Asn) Unknown g.52014486G>A - ABHD14A_000022 rs79186892 0.021 11 516 9574 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.555C>G r.(?) p.(His185Gln) Unknown g.52014566C>G - ABHD14A_000023 rs141083259 0.001938 1 516 7069 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.566A>G r.(?) p.(His189Arg) Unknown g.52014577A>G - ABHD14A_000024 rs144897211 0.003876 2 516 6870 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.662T>G r.(?) p.(Leu221Arg) Unknown g.52014880T>G - ABHD14A_000025 rs778278081 0.001938 1 516 6634 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.679C>G r.(?) p.(Arg227Gly) Unknown g.52014897C>G - ABHD14A_000026 rs61729088 0.003876 2 516 7176 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.689T>G r.(?) p.(Leu230Arg) Unknown g.52014907T>G - ABHD14A_000027 rs34149506 0.005814 3 516 7616 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*104_*105insGCTG r.(=) p.(=) Unknown g.52015138_52015139insGCTG - ABHD14A_000028 rs34473511 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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