All transcript variants in gene XPA

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

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5C>T r.(=) p.(=) g.100459579G>A Copied from the Exome Variant Server XPA_000048 1/11182 0/7536 1/3646
?/? c.-4A>G r.(=) p.(=) g.100459578T>C Copied from the Exome Variant Server XPA_000047 8354/11184 5353/7542 3001/3642
?/? c.12C>A r.(=) p.(=) g.100459563G>T Copied from the Exome Variant Server XPA_000046 1/10970 0/7444 1/3526
?/? c.173-28T>C r.(=) p.(=) g.100456069A>G Copied from the Exome Variant Server XPA_000045 1/13004 1/8598 0/4406
?/? c.203T>C r.(?) p.(Ile68Thr) g.100456011A>G Copied from the Exome Variant Server XPA_000044 1/13006 1/8600 0/4406
?/? c.234A>G r.(=) p.(=) g.100455980T>C Copied from the Exome Variant Server XPA_000043 5/13004 0/8598 5/4406
?/? c.250_252del r.(?) p.(Glu84del) g.100455962_100455964del Copied from the Exome Variant Server XPA_000042 531/12516 360/8252 171/4264
?/? c.283+6G>A r.(=) p.(=) g.100455925C>T Copied from the Exome Variant Server XPA_000041 1/13004 1/8598 0/4406
?/? c.284-44C>T r.(=) p.(=) g.100451965G>A Copied from the Exome Variant Server XPA_000040 3/12978 1/8578 2/4400
?/? c.284-24T>A r.(=) p.(=) g.100451945A>T Copied from the Exome Variant Server XPA_000039 1/12990 1/8588 0/4402
?/? c.284-24_284-23del r.(=) p.(=) g.100451944_100451945del Copied from the Exome Variant Server XPA_000038 5/12502 5/8244 0/4258
?/? c.315C>T r.(=) p.(=) g.100451890G>A Copied from the Exome Variant Server XPA_000037 1/12996 0/8594 1/4402
?/? c.316G>A r.(?) p.(Glu106Lys) g.100451889C>T Copied from the Exome Variant Server XPA_000036 1/12996 0/8594 1/4402
?/? c.389+46G>C r.(=) p.(=) g.100451770C>G Copied from the Exome Variant Server XPA_000035 6/12992 0/8590 6/4402
?/? c.390-13A>C r.(=) p.(=) g.100449556T>G Copied from the Exome Variant Server XPA_000034 1/12986 1/8584 0/4402
?/? c.403A>G r.(?) p.(Lys135Glu) g.100449530T>C Copied from the Exome Variant Server XPA_000033 1/12996 0/8592 1/4404
?/? c.441A>C r.(?) p.(Glu147Asp) g.100449492T>G Copied from the Exome Variant Server XPA_000032 2/13002 2/8596 0/4406
?/? c.497T>C r.(?) p.(Val166Ala) g.100449436A>G Copied from the Exome Variant Server XPA_000031 48/13002 0/8596 48/4406
?/? c.507T>C r.(=) p.(=) g.100449426A>G Copied from the Exome Variant Server XPA_000030 1/13002 0/8596 1/4406
?/? c.543C>T r.(=) p.(=) g.100449390G>A Copied from the Exome Variant Server XPA_000029 1/13000 1/8596 0/4404
?/? c.552A>G r.(=) p.(=) g.100449381T>C Copied from the Exome Variant Server XPA_000028 1/13000 0/8596 1/4404
?/? c.555+11del r.(=) p.(=) g.100449367del Copied from the Exome Variant Server XPA_000027 19/12508 14/8246 5/4262
?/? c.555+20T>A r.(=) p.(=) g.100449358A>T Copied from the Exome Variant Server XPA_000026 1/12990 1/8588 0/4402
?/? c.555+34C>T r.(=) p.(=) g.100449344G>A Copied from the Exome Variant Server XPA_000025 2/12984 0/8584 2/4400
?/? c.555+35del r.(=) p.(=) g.100449343del Copied from the Exome Variant Server XPA_000024 1/12496 0/8238 1/4258
?/? c.556-58_556-53del r.(=) p.(=) g.100447375_100447380del Copied from the Exome Variant Server XPA_000023 9/12510 2/8252 7/4258
?/? c.556-46G>A r.(=) p.(=) g.100447368C>T Copied from the Exome Variant Server XPA_000021 2/13002 0/8598 2/4404
?/? c.556-32C>T r.(=) p.(=) g.100447354G>A Copied from the Exome Variant Server XPA_000022 162/13002 0/8596 162/4406
?/? c.556-17T>C r.(=) p.(=) g.100447339A>G Copied from the Exome Variant Server XPA_000020 1/13002 1/8596 0/4406
?/? c.631C>T r.(?) p.(Arg211*) g.100447247G>A Copied from the Exome Variant Server XPA_000019 1/13004 0/8598 1/4406
?/? c.632G>A r.(?) p.(Arg211Gln) g.100447246C>T Copied from the Exome Variant Server XPA_000018 1/13004 0/8598 1/4406
?/? c.666A>G r.(=) p.(=) g.100447212T>C Copied from the Exome Variant Server XPA_000017 1/13004 1/8598 0/4406
?/? c.673+19T>C r.(=) p.(=) g.100447186A>G Copied from the Exome Variant Server XPA_000016 1/13004 1/8598 0/4406
?/? c.673+2549_673+2550del r.(=) p.(=) g.100444655_100444656del Copied from the Exome Variant Server XPA_000015 5/6554 1/4418 4/2136
?/? c.673+2621G>C r.(=) p.(=) g.100444584C>G Copied from the Exome Variant Server XPA_000014 2/5734 2/3982 0/1752
?/? c.674-46C>T r.(=) p.(=) g.100437915G>A Copied from the Exome Variant Server XPA_000013 4/13004 0/8598 4/4406
?/? c.683G>A r.(?) p.(Arg228Gln) g.100437860C>T Copied from the Exome Variant Server XPA_000012 2/13006 2/8600 0/4406
?/? c.696C>T r.(=) p.(=) g.100437847G>A Copied from the Exome Variant Server XPA_000011 1/13006 1/8600 0/4406
?/? c.700G>T r.(?) p.(Val234Leu) g.100437843C>A Copied from the Exome Variant Server XPA_000010 30/13006 0/8600 30/4406
?/? c.717G>A r.(=) p.(=) g.100437826C>T Copied from the Exome Variant Server XPA_000009 1/13006 1/8600 0/4406
?/? c.731A>G r.(?) p.(His244Arg) g.100437812T>C Copied from the Exome Variant Server XPA_000008 2/13006 1/8600 1/4406
?/? c.754C>G r.(?) p.(Leu252Val) g.100437789G>C Copied from the Exome Variant Server XPA_000007 148/13006 4/8600 144/4406
?/? c.766A>G r.(?) p.(Met256Val) g.100437777T>C Copied from the Exome Variant Server XPA_000006 121/13004 0/8600 121/4404
?/? c.789G>A r.(?) p.(Met263Ile) g.100437754C>T Copied from the Exome Variant Server XPA_000005 2/13002 2/8600 0/4402
?/? c.817_818insA r.(?) p.(Met273Asnfs*5) g.100437725_100437726insT Copied from the Exome Variant Server XPA_000004 1/12514 1/8254 0/4260
?/? c.*5T>C r.(=) p.(=) g.100437716A>G Copied from the Exome Variant Server XPA_000003 4/13002 0/8600 4/4402
?/? c.*26T>C r.(=) p.(=) g.100437695A>G Copied from the Exome Variant Server XPA_000002 1/12998 0/8596 1/4402
?/? c.*38T>C r.(=) p.(=) g.100437683A>G Copied from the Exome Variant Server XPA_000001 2/12976 0/8584 2/4392
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