Unique variants in gene OCIAD2

Information The variants shown are described using the NM_152398.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-45A>G r.(=) p.(=) g.48906611T>C Copied from the Exome Variant Server OCIAD2_000039 1/13006 1/8600 0/4406
1 c.-4C>A r.(=) p.(=) g.48906570G>T Copied from the Exome Variant Server OCIAD2_000038 2/13006 0/8600 2/4406
1 c.11C>T r.(?) p.(Ala4Val) g.48906556G>A Copied from the Exome Variant Server OCIAD2_000037 1/13006 1/8600 0/4406
1 c.20G>A r.(?) p.(Arg7His) g.48906547C>T Copied from the Exome Variant Server OCIAD2_000036 1/13006 0/8600 1/4406
1 c.66+1G>T r.spl? p.? g.48906500C>A Copied from the Exome Variant Server OCIAD2_000034 1/13006 1/8600 0/4406
1 c.66+9T>C r.(=) p.(=) g.48906492A>G Copied from the Exome Variant Server OCIAD2_000032 1/13006 0/8600 1/4406
1 c.66+23C>T r.(=) p.(=) g.48906478G>A Copied from the Exome Variant Server OCIAD2_000030 3/13006 0/8600 3/4406
1 c.66+24G>A r.(=) p.(=) g.48906477C>T Copied from the Exome Variant Server OCIAD2_000028 1/13006 1/8600 0/4406
1 c.66+35T>C r.(=) p.(=) g.48906466A>G Copied from the Exome Variant Server OCIAD2_000026 2/13006 2/8600 0/4406
1 c.67-34C>A r.(=) p.(=) g.48901976G>T Copied from the Exome Variant Server OCIAD2_000024 3/13006 0/8600 3/4406
1 c.67-2_78del r.spl? p.? g.48901931_48901944del Copied from the Exome Variant Server OCIAD2_000022 1/12520 1/8254 0/4266
1 c.131G>A r.(?) p.(Arg44Gln) g.48901878C>T Copied from the Exome Variant Server OCIAD2_000035 42/13006 0/8600 42/4406
1 c.163+17C>T r.(=) p.(=) g.48901829G>A Copied from the Exome Variant Server OCIAD2_000033 20/13004 0/8600 20/4404
1 c.181G>A r.(?) p.(Val61Ile) g.48899857C>T Copied from the Exome Variant Server OCIAD2_000031 38/13006 1/8600 37/4406
1 c.217+37del r.(=) p.(=) g.48899784del Copied from the Exome Variant Server OCIAD2_000029 1/12520 1/8254 0/4266
1 c.217+62T>C r.(=) p.(=) g.48899759A>G Copied from the Exome Variant Server OCIAD2_000027 2/4566 0/3182 2/1384
1 c.218-48T>C r.(=) p.(=) g.48896118A>G Copied from the Exome Variant Server OCIAD2_000025 3/12516 3/8422 0/4094
1 c.237T>A r.(=) p.(=) g.48896051A>T Copied from the Exome Variant Server OCIAD2_000023 11/13006 0/8600 11/4406
1 c.243T>C r.(=) p.(=) g.48896045A>G Copied from the Exome Variant Server OCIAD2_000021 1/13006 1/8600 0/4406
1 c.265C>G r.(?) p.(Arg89Gly) g.48896023G>C Copied from the Exome Variant Server OCIAD2_000020 33/13006 1/8600 32/4406
1 c.265+1G>A r.spl? p.? g.48896022C>T Copied from the Exome Variant Server OCIAD2_000019 1/13006 0/8600 1/4406
1 c.265+2_265+3insT r.spl? p.? g.48896020_48896021insA Copied from the Exome Variant Server OCIAD2_000018 36/12520 1/8254 35/4266
1 c.265+30A>T r.(=) p.(=) g.48895993T>A Copied from the Exome Variant Server OCIAD2_000017 1/13006 0/8600 1/4406
1 c.265+38G>A r.(=) p.(=) g.48895985C>T Copied from the Exome Variant Server OCIAD2_000016 1/13006 0/8600 1/4406
1 c.265+1093A>G r.(=) p.(=) g.48894930T>C Copied from the Exome Variant Server OCIAD2_000015 1/13006 1/8600 0/4406
1 c.265+1155T>C r.(=) p.(=) g.48894868A>G Copied from the Exome Variant Server OCIAD2_000014 5/13006 5/8600 0/4406
1 c.265+1203C>T r.(=) p.(=) g.48894820G>A Copied from the Exome Variant Server OCIAD2_000013 3/13006 3/8600 0/4406
1 c.265+1274T>C r.(=) p.(=) g.48894749A>G Copied from the Exome Variant Server OCIAD2_000012 1/13000 1/8596 0/4404
1 c.266-65_266-61del r.(=) p.(=) g.48887643_48887647del Copied from the Exome Variant Server OCIAD2_000011 2/12520 2/8254 0/4266
1 c.266-57G>A r.(=) p.(=) g.48887639C>T Copied from the Exome Variant Server OCIAD2_000010 15/4566 15/3182 0/1384
1 c.266-27C>T r.(=) p.(=) g.48887609G>A Copied from the Exome Variant Server OCIAD2_000009 1/13006 0/8600 1/4406
1 c.266-26G>A r.(=) p.(=) g.48887608C>T Copied from the Exome Variant Server OCIAD2_000008 43/13006 1/8600 42/4406
1 c.267C>T r.(=) p.(=) g.48887581G>A Copied from the Exome Variant Server OCIAD2_000007 1/13006 1/8600 0/4406
1 c.*5T>C r.(=) p.(=) g.48887543A>G Copied from the Exome Variant Server OCIAD2_000006 2/13006 2/8600 0/4406
1 c.*6G>A r.(=) p.(=) g.48887542C>T Copied from the Exome Variant Server OCIAD2_000005 4/13006 4/8600 0/4406
1 c.*21G>A r.(=) p.(=) g.48887527C>T Copied from the Exome Variant Server OCIAD2_000004 2/13006 0/8600 2/4406
1 c.*51C>A r.(=) p.(=) g.48887497G>T Copied from the Exome Variant Server OCIAD2_000003 1/13006 1/8600 0/4406
1 c.*67C>T r.(=) p.(=) g.48887481G>A Copied from the Exome Variant Server OCIAD2_000002 2/13006 0/8600 2/4406
1 c.*98A>C r.(=) p.(=) g.48887450T>G Copied from the Exome Variant Server OCIAD2_000001 6/13006 0/8600 6/4406
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