All transcript variants in gene DDB2

Information The variants shown are described using the NM_000107.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-51C>T r.(=) p.(=) g.47236637C>T - DDB2_000008 - - - - Despoina Kalfakakou
./. - c.-51C>T r.(=) p.(=) g.47236637C>T - DDB2_000008 - - - - Despoina Kalfakakou
./. - c.-36G>A r.(=) p.(=) g.47236652G>A - DDB2_000028 - - - - Despoina Kalfakakou
./. - c.-31G>C r.(=) p.(=) g.47236657G>C - DDB2_000013 - - - - Despoina Kalfakakou
./. - c.-10G>A r.(=) p.(=) g.47236678G>A - DDB2_000014 - - - - Despoina Kalfakakou
./. - c.-2C>A r.(=) p.(=) g.47236686C>A - DDB2_000017 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 - - - - Despoina Kalfakakou
./. - c.128-19T>C r.(=) p.(=) g.47237868T>C - DDB2_000029 - - - - Despoina Kalfakakou
./. - c.128-16C>T r.(=) p.(=) g.47237871C>T - DDB2_000012 - - - - Despoina Kalfakakou
./. - c.192A>C r.(=) p.(=) g.47237951A>C - DDB2_000010 - - - - Despoina Kalfakakou
./. - c.192A>C r.(=) p.(=) g.47237951A>C - DDB2_000010 - - - - Despoina Kalfakakou
./. - c.264+8A>G r.(=) p.(=) g.47238031A>G - DDB2_000018 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Ser) g.47238521C>G - DDB2_000021 - - - - Despoina Kalfakakou
./. - c.457-20T>G r.(=) p.(=) g.47254345T>G - DDB2_000016 - - - - Despoina Kalfakakou
./. - c.457-20T>G r.(=) p.(=) g.47254345T>G - DDB2_000016 - - - - Despoina Kalfakakou
./. - c.641G>A r.(?) p.(Arg214Gln) g.47256162G>A - DDB2_000022 - - - - Despoina Kalfakakou
./. - c.702+9T>C r.(=) p.(=) g.47256232T>C - DDB2_000006 - - - - Despoina Kalfakakou
./. - c.702+12G>C r.(=) p.(=) g.47256235G>C - DDB2_000027 rs55847708 - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 - - - - Despoina Kalfakakou
./. - c.880+9T>G r.(=) p.(=) g.47256494T>G - DDB2_000030 - - - - Despoina Kalfakakou
./. - c.984G>A r.(=) p.(=) g.47256924G>A - DDB2_000023 - - - - Despoina Kalfakakou
./. - c.984G>A r.(=) p.(=) g.47256924G>A - DDB2_000023 - - - - Despoina Kalfakakou
./. - c.1023+25G>A r.(=) p.(=) g.47256988G>A - DDB2_000011 - - - - Despoina Kalfakakou
./. - c.1023+25G>A r.(=) p.(=) g.47256988G>A - DDB2_000011 - - - - Despoina Kalfakakou
./. - c.1024-24A>G r.(=) p.(=) g.47259364A>G - DDB2_000019 - - - - Despoina Kalfakakou
./. - c.1024-18G>A r.(=) p.(=) g.47259370G>A - DDB2_000020 - - - - Despoina Kalfakakou
./. - c.1024-8T>A r.(=) p.(=) g.47259380T>A - DDB2_000024 - - - - Despoina Kalfakakou
./. - c.1034A>T r.(?) p.(His345Leu) g.47259398A>T - DDB2_000026 - - - - Despoina Kalfakakou
./. - c.1034A>T r.(?) p.(His345Leu) g.47259398A>T - DDB2_000026 - - - - Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - - - Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - - - Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - - - Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - - - Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - - - Despoina Kalfakakou
./. - c.1098T>G r.(=) p.(=) g.47259462T>G - DDB2_000003 - - - - Despoina Kalfakakou
./. - c.1098T>G r.(=) p.(=) g.47259462T>G - DDB2_000003 - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.47259480C>T - DDB2_000031 - - - - Despoina Kalfakakou
./. - c.1219C>T r.(=) p.(=) g.47259719C>T - DDB2_000015 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 - - - - Despoina Kalfakakou
./. - c.1234+39A>C r.(=) p.(=) g.47259773A>C - DDB2_000025 - - - - Despoina Kalfakakou
./. - c.*51G>A r.(=) p.(=) g.47260451G>A - DDB2_000009 - - - - Despoina Kalfakakou
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