All transcript variants in gene VHL

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

45 entries on 1 page. Showing entries 1 - 45.
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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.-36C>G r.(=) p.(=) g.10183496C>G - VHL_000019 - - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - - - Despoina Kalfakakou
./. - c.104C>A r.(?) p.(Ala35Asp) g.10183635C>A - VHL_000023 - - - - Despoina Kalfakakou
./. - c.114C>T r.(=) p.(=) g.10183645C>T - VHL_000013 rs417164 - - - Despoina Kalfakakou
./. - c.181C>G r.(?) p.(Pro61Ala) g.10183712C>G - VHL_000003 - - - - Despoina Kalfakakou
./. - c.181C>G r.(?) p.(Pro61Ala) g.10183712C>G - VHL_000003 - - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - - - Despoina Kalfakakou
./. - c.258C>G r.(=) p.(=) g.10183789C>G - VHL_000005 - - - - Despoina Kalfakakou
./. - c.258C>G r.(=) p.(=) g.10183789C>G - VHL_000005 - - - - Despoina Kalfakakou
./. - c.297A>C r.(=) p.(=) g.10183828A>C - VHL_000016 - - - - Despoina Kalfakakou
./. - c.340+24G>A r.(=) p.(=) g.10183895G>A - VHL_000006 - - - - Despoina Kalfakakou
./. - c.341-15T>C r.(=) p.(=) g.10188183T>C - VHL_000014 - - - - Despoina Kalfakakou
./. - c.341-5G>A r.spl? p.? g.10188193G>A - VHL_000015 - - - - Despoina Kalfakakou
./. - c.345C>T r.(=) p.(=) g.10188202C>T - VHL_000007 - - - - Despoina Kalfakakou
./. - c.345C>T r.(=) p.(=) g.10188202C>T - VHL_000007 - - - - Despoina Kalfakakou
./. - c.373C>T r.(?) p.(His125Tyr) g.10188230C>T - VHL_000022 - - - - Despoina Kalfakakou
./. - c.375C>T r.(=) p.(=) g.10188232C>T - VHL_000018 - - - - Despoina Kalfakakou
./. - c.463+8C>T r.(=) p.(=) g.10188328C>T - VHL_000008 rs5030834 - - - Despoina Kalfakakou
./. - c.552C>T r.(=) p.(=) g.10191559C>T - VHL_000009 - - - - Despoina Kalfakakou
./. - c.575C>G r.(?) p.(Pro192Arg) g.10191582C>G - VHL_000020 - - - - Despoina Kalfakakou
./. - c.588A>G r.(=) p.(=) g.10191595A>G - VHL_000021 - - - - Despoina Kalfakakou
./. - c.628C>T r.(?) p.(Arg210Trp) g.10191635C>T - VHL_000012 - - - - Despoina Kalfakakou
./. - c.629G>A r.(?) p.(Arg210Gln) g.10191636G>A - VHL_000010 - - - - Despoina Kalfakakou
./. - c.631A>C r.(?) p.(Met211Leu) g.10191638A>C - VHL_000011 - - - - Despoina Kalfakakou
./. - c.*22C>G r.(=) p.(=) g.10191671C>G - VHL_000017 - - - - Despoina Kalfakakou
./. - c.*47A>G r.(=) p.(=) g.10191696A>G - VHL_000002 - - - - Despoina Kalfakakou
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