NM_000380.4(XPA):c.234A>G (p.Glu78=)
|
rs144543144
|
0.00051
|
NM_000380.4(XPA):c.*428T>C
|
rs143474170
|
0.00029
|
NM_000380.4(XPA):c.683G>A (p.Arg228Gln)
|
rs1805160
|
0.00017
|
NM_000380.3(XPA):c.-88C>A
|
rs371959589
|
0.00013
|
NM_000380.4(XPA):c.599T>C (p.Leu200Ser)
|
rs755803064
|
0.00008
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000380.4(XPA):c.122C>T (p.Ala41Val)
|
rs778289269
|
0.00006
|
NM_000380.4(XPA):c.773G>A (p.Arg258His)
|
rs763929562
|
0.00006
|
NM_000380.4(XPA):c.*256G>C
|
rs886063215
|
0.00005
|
NM_000380.4(XPA):c.772C>T (p.Arg258Cys)
|
rs188860873
|
0.00005
|
NM_000380.4(XPA):c.390-13A>C
|
rs373762653
|
0.00004
|
NM_000380.4(XPA):c.47A>G (p.Gln16Arg)
|
rs756527969
|
0.00004
|
NM_000380.4(XPA):c.571C>G (p.Leu191Val)
|
rs562768588
|
0.00004
|
NM_000380.4(XPA):c.739G>A (p.Gly247Arg)
|
rs963248210
|
0.00004
|
NM_000380.3(XPA):c.-66T>G
|
rs886063218
|
0.00003
|
NM_000380.4(XPA):c.605A>C (p.Glu202Ala)
|
rs200956475
|
0.00003
|
NM_000380.4(XPA):c.76G>C (p.Ala26Pro)
|
rs766444854
|
0.00003
|
NM_000380.4(XPA):c.774T>A (p.Arg258=)
|
rs746694561
|
0.00003
|
NM_000380.4(XPA):c.89G>A (p.Arg30Gln)
|
rs760613920
|
0.00003
|
NM_000380.4(XPA):c.*178A>C
|
rs963196708
|
0.00002
|
NM_000380.3(XPA):c.-50G>T
|
rs1237254220
|
0.00001
|
NM_000380.4(XPA):c.*439G>C
|
rs548728905
|
0.00001
|
NM_000380.4(XPA):c.*54T>C
|
rs557709427
|
0.00001
|
NM_000380.4(XPA):c.-43G>A
|
rs886063217
|
0.00001
|
NM_000380.4(XPA):c.13G>T (p.Asp5Tyr)
|
rs574504791
|
0.00001
|
NM_000380.3(XPA):c.-72_-47del
|
rs1249073186
|
|
NM_000380.3(XPA):c.-74A>C
|
rs3176631
|
|
NM_000380.4(XPA):c.*234_*235del
|
rs568435573
|
|
NM_000380.4(XPA):c.*236G>A
|
rs1828314205
|
|
NM_000380.4(XPA):c.*77C>A
|
rs886063216
|
|
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del)
|
rs755109935
|
|
NM_000380.4(XPA):c.20C>T (p.Ala7Val)
|
rs1228453951
|
|
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del)
|
rs1554702607
|
|
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del)
|
rs3176652
|
|
NM_000380.4(XPA):c.284-7_284-6del
|
|
|
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)
|
rs104894131
|
|
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)
|
rs104894131
|
|
NM_000380.4(XPA):c.344_346del (p.Ser115del)
|
rs1554701942
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)
|
rs1324310300
|
|
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del)
|
rs1554701553
|
|
NM_000380.4(XPA):c.439_441del (p.Glu147del)
|
rs1554701535
|
|
NM_000380.4(XPA):c.452A>G (p.Lys151Arg)
|
rs983722547
|
|
NM_000380.4(XPA):c.472A>C (p.Arg158=)
|
rs2131396614
|
|
NM_000380.4(XPA):c.482C>T (p.Pro161Leu)
|
rs1828744402
|
|
NM_000380.4(XPA):c.494T>C (p.Ile165Thr)
|
rs1828743987
|
|
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup)
|
rs1554701135
|
|
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)
|
rs1554699326
|
|
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
|
|
|
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)
|
rs758358436
|
|
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)
|
rs1554699256
|
|
NM_000380.4(XPA):c.817dup (p.Met273fs)
|
rs754458042
|
|