All transcript variants in gene SBDS

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

130 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-16T>A r.(=) p.(=) g.66460420A>T - SBDS_000019 - - - - Despoina Kalfakakou
./. - c.-16T>A r.(=) p.(=) g.66460420A>T - SBDS_000019 - - - - Despoina Kalfakakou
./. - c.-16T>A r.(=) p.(=) g.66460420A>T - SBDS_000019 - - - - Despoina Kalfakakou
./. - c.-16T>A r.(=) p.(=) g.66460420A>T - SBDS_000019 - - - - Despoina Kalfakakou
./. - c.66T>C r.(=) p.(=) g.66460339A>G - SBDS_000024 - - - - Despoina Kalfakakou
./. - c.70G>A r.(?) p.(Gly24Arg) g.66460335C>T - SBDS_000023 - - - - Despoina Kalfakakou
./. - c.98A>G r.(?) p.(Lys33Arg) g.66460307T>C - SBDS_000029 - - - - Despoina Kalfakakou
./. - c.107T>C r.(?) p.(Val36Ala) g.66460298A>G - SBDS_000026 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 - - - - Despoina Kalfakakou
./. - c.128+9C>A r.(=) p.(=) g.66460268G>T - SBDS_000004 - - - - Despoina Kalfakakou
./. - c.129-51G>T r.(=) p.(=) g.66459379C>A - SBDS_000003 - - - - Despoina Kalfakakou
./. - c.183T>C r.(=) p.(=) g.66459274A>G - SBDS_000015 - - - - Despoina Kalfakakou
./. - c.183T>C r.(=) p.(=) g.66459274A>G - SBDS_000015 - - - - Despoina Kalfakakou
./. - c.184A>T r.(?) p.(Lys62*) g.66459273T>A - SBDS_000016 - - - - Despoina Kalfakakou
./. - c.184A>T r.(?) p.(Lys62*) g.66459273T>A - SBDS_000016 - - - - Despoina Kalfakakou
./. - c.192G>C r.(?) p.(Gln64His) g.66459265C>G - SBDS_000002 - - - - Despoina Kalfakakou
./. - c.235G>C r.(?) p.(Asp79His) g.66459222C>G - SBDS_000012 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 - - - - Despoina Kalfakakou
./. - c.258+49A>G - - g.66459150T>C - SBDS_000030 - - - - Despoina Kalfakakou
./. - c.259-20A>C r.(=) p.(=) g.66458424T>G - SBDS_000028 - - - - Despoina Kalfakakou
./. - c.266C>G r.(?) p.(Thr89Ser) g.66458397G>C - SBDS_000025 - - - - Despoina Kalfakakou
./. - c.304A>G r.(?) p.(Thr102Ala) g.66458359T>C - SBDS_000018 - - - - Despoina Kalfakakou
./. - c.338C>T r.(?) p.(Thr113Ile) g.66458325G>A - SBDS_000013 rs13311116 - - - Despoina Kalfakakou
./. - c.387C>T r.(=) p.(=) g.66458276G>A - SBDS_000021 - - - - Despoina Kalfakakou
./. - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - - - Despoina Kalfakakou
./. - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - - - Despoina Kalfakakou
./. - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - - - Despoina Kalfakakou
./. - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - - - Despoina Kalfakakou
./. - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - - - Despoina Kalfakakou
./. - c.625-46_625-45del r.(=) p.(=) g.66453531_66453532del - SBDS_000031 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - - - Despoina Kalfakakou
./. - c.625-28T>G r.(=) p.(=) g.66453514A>C - SBDS_000022 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
./. - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - - - Despoina Kalfakakou
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