All transcript variants in gene XPA

Information The variants shown are described using the NM_000380.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. - c.-22A>G r.(=) p.(=) g.100459596T>C - XPA_000010 - - - - - - - Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) g.100459596T>C - XPA_000010 - - - - - - - Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) g.100459596T>C - XPA_000010 - - - - - - - Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) g.100459596T>C - XPA_000010 - - - - - - - Despoina Kalfakakou
./. - c.13G>T r.(?) p.(Asp5Tyr) g.100459562C>A - XPA_000014 - - - - - - - Despoina Kalfakakou
./. - c.19G>A r.(?) p.(Ala7Thr) g.100459556C>T - XPA_000013 - - - - - - - Despoina Kalfakakou
./. - c.19G>A r.(?) p.(Ala7Thr) g.100459556C>T - XPA_000013 - - - - - - - Despoina Kalfakakou
./. - c.66C>T r.(=) p.(=) g.100459509G>A - XPA_000006 - - - - - - - Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) g.100459453G>A - XPA_000001 - - - - - - - Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) g.100459453G>A - XPA_000001 - - - - - - - Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) g.100459453G>A - XPA_000001 - - - - - - - Despoina Kalfakakou
./. - c.172+11C>T r.(=) p.(=) g.100459392G>A - XPA_000021 - - - - - - - Despoina Kalfakakou
./. - c.172+11C>T r.(=) p.(=) g.100459392G>A - XPA_000021 - - - - - - - Despoina Kalfakakou
./. - c.173-27G>A r.(=) p.(=) g.100456068C>T - XPA_000023 - - - - - - - Despoina Kalfakakou
./. - c.173-24G>T r.(=) p.(=) g.100456065C>A - XPA_000015 - - - - - - - Despoina Kalfakakou
./. - c.173-5_173-4insT r.spl? p.? g.100456045_100456046insA - XPA_000022 - - - - - - - Despoina Kalfakakou
./. - c.273T>A r.(=) p.(=) g.100455941A>T - XPA_000020 - - - - - - - Despoina Kalfakakou
./. - c.283+6G>A r.(=) p.(=) g.100455925C>T - XPA_000019 - - - - - - - Despoina Kalfakakou
./. - c.283+6G>A r.(=) p.(=) g.100455925C>T - XPA_000019 - - - - - - - Despoina Kalfakakou
./. - c.283+40A>G r.(=) p.(=) g.100455891T>C - XPA_000025 - - - - - - - Despoina Kalfakakou
./. - c.284-17_284-14del r.(=) p.(=) g.100451935_100451938del - XPA_000018 - - - - - - - Despoina Kalfakakou
./. - c.390-35A>C r.(=) p.(=) g.100449578T>G - XPA_000016 - - - - - - - Despoina Kalfakakou
./. - c.390-13A>C r.(=) p.(=) g.100449556T>G - XPA_000004 - - - - - - - Despoina Kalfakakou
./. - c.390-13A>C r.(=) p.(=) g.100449556T>G - XPA_000004 - - - - - - - Despoina Kalfakakou
./. - c.555+11del r.(=) p.(=) g.100449367del - XPA_000008 - - - - - - - Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) g.100447375_100447380del - XPA_000003 - - - - - - - Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) g.100447375_100447380del - XPA_000003 - - - - - - - Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) g.100447375_100447380del - XPA_000003 - - - - - - - Despoina Kalfakakou
./. - c.556-46G>A r.(=) p.(=) g.100447368C>T - XPA_000002 - - - - - - - Despoina Kalfakakou
./. - c.556-25T>C r.(=) p.(=) g.100447347A>G - XPA_000012 - - - - - - - Despoina Kalfakakou
./. - c.619C>T r.(?) p.(Arg207*) g.100447259G>A - XPA_000017 - - - - - - - Despoina Kalfakakou
./. - c.673+20A>G r.(=) p.(=) g.100447185T>C - XPA_000009 - - - - - - - Despoina Kalfakakou
./. - c.674-2A>G r.spl? p.? g.100437871T>C - XPA_000024 - - - - - - - Despoina Kalfakakou
./. - c.696C>T r.(=) p.(=) g.100437847G>A - XPA_000026 - - - - - - - Despoina Kalfakakou
./. - c.716C>T r.(?) p.(Thr239Met) g.100437827G>A - XPA_000005 - - - - - - - Despoina Kalfakakou
./. - c.759A>T r.(?) p.(Glu253Asp) g.100437784T>A - XPA_000007 - - - - - - - Despoina Kalfakakou
./. - c.772_785del r.(?) p.(Arg258Tyrfs*5) g.100437758_100437771del - XPA_000011 - - - - - - - Despoina Kalfakakou
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