Unique variants in gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-51C>A r.(=) p.(=) g.66460455G>T Copied from the Exome Variant Server SBDS_000036 2/13006 2/8600 0/4406
1 c.-28C>T r.(=) p.(=) g.66460432G>A Copied from the Exome Variant Server SBDS_000035 1/13006 1/8600 0/4406
1 c.-16T>A r.(=) p.(=) g.66460420A>T Copied from the Exome Variant Server SBDS_000034 7/13006 6/8600 1/4406
1 c.36A>G r.(=) p.(=) g.66460369T>C Copied from the Exome Variant Server SBDS_000033 2/13006 0/8600 2/4406
1 c.98A>G r.(?) p.(Lys33Arg) g.66460307T>C Copied from the Exome Variant Server SBDS_000032 1/13006 1/8600 0/4406
1 c.128+9C>A r.(=) p.(=) g.66460268G>T Copied from the Exome Variant Server SBDS_000031 1/13006 1/8600 0/4406
1 c.128+40G>A r.(=) p.(=) g.66460237C>T Copied from the Exome Variant Server SBDS_000030 1/12998 0/8594 1/4404
1 c.129-36A>G r.(=) p.(=) g.66459364T>C Copied from the Exome Variant Server SBDS_000029 2/13000 1/8594 1/4406
1 c.141C>T r.(=) p.(=) g.66459316G>A Copied from the Exome Variant Server SBDS_000028 78/13006 33/8600 45/4406
1 c.160C>T r.(?) p.(His54Tyr) g.66459297G>A Copied from the Exome Variant Server SBDS_000027 1/13006 1/8600 0/4406
1 c.164C>G r.(?) p.(Ser55*) g.66459293G>C Copied from the Exome Variant Server SBDS_000026 1/13006 1/8600 0/4406
1 c.170T>C r.(?) p.(Phe57Ser) g.66459287A>G Copied from the Exome Variant Server SBDS_000025 1/13006 0/8600 1/4406
1 c.189T>G r.(=) p.(=) g.66459268A>C Copied from the Exome Variant Server SBDS_000024 1/13006 1/8600 0/4406
1 c.196G>A r.(?) p.(Ala66Thr) g.66459261C>T Copied from the Exome Variant Server SBDS_000023 1/13006 0/8600 1/4406
1 c.201A>G r.(=) p.(=) g.66459256T>C Copied from the Exome Variant Server SBDS_000022 1067/13006 955/8600 112/4406
1 c.258+2T>C r.spl? p.? g.66459197A>G Copied from the Exome Variant Server SBDS_000021 37/13006 32/8600 5/4406
1 c.258+19A>G r.(=) p.(=) g.66459180T>C Copied from the Exome Variant Server SBDS_000020 158/13006 145/8600 13/4406
1 c.258+30T>A r.(=) p.(=) g.66459169A>T Copied from the Exome Variant Server SBDS_000019 1/13006 1/8600 0/4406
1 c.258+37C>T r.(=) p.(=) g.66459162G>A Copied from the Exome Variant Server SBDS_000018 1/13006 1/8600 0/4406
1 c.258+47G>A r.(=) p.(=) g.66459152C>T Copied from the Exome Variant Server SBDS_000017 2/13002 0/8596 2/4406
1 c.259-20A>C r.(=) p.(=) g.66458424T>G Copied from the Exome Variant Server SBDS_000015 1/13006 1/8600 0/4406
1 c.333T>C r.(=) p.(=) g.66458330A>G Copied from the Exome Variant Server SBDS_000013 1/13006 0/8600 1/4406
1 c.348A>C r.(=) p.(=) g.66458315T>G Copied from the Exome Variant Server SBDS_000016 1/13006 0/8600 1/4406
1 c.388G>A r.(?) p.(Val130Met) g.66458275C>T Copied from the Exome Variant Server SBDS_000014 1/13006 1/8600 0/4406
1 c.429G>A r.(=) p.(=) g.66458234C>T Copied from the Exome Variant Server SBDS_000012 5/13006 0/8600 5/4406
1 c.459+43A>G r.(=) p.(=) g.66458161T>C Copied from the Exome Variant Server SBDS_000011 1/13006 0/8600 1/4406
1 c.460-38T>C r.(=) p.(=) g.66456326A>G Copied from the Exome Variant Server SBDS_000010 3/12762 0/8472 3/4290
1 c.572_573insA r.(?) p.(Pro192Alafs*9) g.66456175_66456176insT Copied from the Exome Variant Server SBDS_000009 32/12518 24/8254 8/4264
1 c.595A>G r.(?) p.(Ser199Gly) g.66456153T>C Copied from the Exome Variant Server SBDS_000008 1/13006 1/8600 0/4406
1 c.625-22T>A r.(=) p.(=) g.66453508A>T Copied from the Exome Variant Server SBDS_000007 1/13006 1/8600 0/4406
1 c.635T>C r.(?) p.(Ile212Thr) g.66453476A>G Copied from the Exome Variant Server SBDS_000006 363/13006 334/8600 29/4406
1 c.651C>T r.(=) p.(=) g.66453460G>A Copied from the Exome Variant Server SBDS_000005 512/13006 472/8600 40/4406
1 c.664G>C r.(?) p.(Glu222Gln) g.66453447C>G Copied from the Exome Variant Server SBDS_000004 1/13006 1/8600 0/4406
1 c.711C>T r.(=) p.(=) g.66453400G>A Copied from the Exome Variant Server SBDS_000003 1/13006 1/8600 0/4406
1 c.719A>G r.(?) p.(Lys240Arg) g.66453392T>C Copied from the Exome Variant Server SBDS_000002 1/13006 1/8600 0/4406
1 c.*41C>T r.(=) p.(=) g.66453317G>A Copied from the Exome Variant Server SBDS_000001 1/13006 1/8600 0/4406
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