NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_000380.4(XPA):c.683G>A (p.Arg228Gln)
|
rs1805160
|
0.00017
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000380.4(XPA):c.571C>G (p.Leu191Val)
|
rs562768588
|
0.00004
|
NM_000380.3(XPA):c.-66T>G
|
rs886063218
|
0.00003
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_000380.4(XPA):c.646C>T (p.Gln216Ter)
|
rs761978351
|
0.00002
|
NM_000380.4(XPA):c.774dup (p.Lys259Ter)
|
rs752573039
|
0.00002
|
NM_000380.4(XPA):c.-43G>A
|
rs886063217
|
0.00001
|
NM_000380.4(XPA):c.338_339del (p.Met113fs)
|
rs748286715
|
0.00001
|
NM_000380.4(XPA):c.642_645dup (p.Gln216fs)
|
rs764582394
|
0.00001
|
NM_000380.3(XPA):c.-72_-47del
|
rs1249073186
|
|
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del)
|
rs1554703183
|
|
NM_000380.4(XPA):c.10del (p.Ala4fs)
|
rs779161471
|
|
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del)
|
rs755109935
|
|
NM_000380.4(XPA):c.172+1G>A
|
rs1554703119
|
|
NM_000380.4(XPA):c.172+1G>T
|
rs1554703119
|
|
NM_000380.4(XPA):c.197del (p.Pro66fs)
|
rs1554702629
|
|
NM_000380.4(XPA):c.235G>T (p.Glu79Ter)
|
rs1554702608
|
|
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.283+1_283+6del
|
rs1554702597
|
|
NM_000380.4(XPA):c.2T>C (p.Met1Thr)
|
rs1253496792
|
|
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.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
NM_000380.4(XPA):c.389+1G>A
|
rs1554701931
|
|
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)
|
rs1324310300
|
|
NM_000380.4(XPA):c.391del (p.Asp131fs)
|
rs1554701563
|
|
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del)
|
rs1554701553
|
|
NM_000380.4(XPA):c.428_429del (p.Glu143fs)
|
rs1554701540
|
|
NM_000380.4(XPA):c.439_441del (p.Glu147del)
|
rs1554701535
|
|
NM_000380.4(XPA):c.451A>T (p.Lys151Ter)
|
rs1554701532
|
|
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer)
|
rs1240801740
|
|
NM_000380.4(XPA):c.472dup (p.Arg158fs)
|
rs1554701520
|
|
NM_000380.4(XPA):c.476_477del (p.Glu159fs)
|
rs781195170
|
|
NM_000380.4(XPA):c.532dup (p.Met178fs)
|
rs1326841833
|
|
NM_000380.4(XPA):c.548del (p.Lys183fs)
|
rs1554701488
|
|
NM_000380.4(XPA):c.555+1G>A
|
rs1554701481
|
|
NM_000380.4(XPA):c.555+2T>A
|
rs1554701478
|
|
NM_000380.4(XPA):c.563del (p.Lys188fs)
|
rs1554701152
|
|
NM_000380.4(XPA):c.572_573del (p.Leu191fs)
|
rs1554701144
|
|
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup)
|
rs1554701135
|
|
NM_000380.4(XPA):c.599T>G (p.Leu200Ter)
|
rs755803064
|
|
NM_000380.4(XPA):c.601_602del (p.Glu201fs)
|
rs1554701139
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
NM_000380.4(XPA):c.631dup (p.Arg211fs)
|
rs1554701129
|
|
NM_000380.4(XPA):c.666dup (p.Val223fs)
|
rs1554701103
|
|
NM_000380.4(XPA):c.673+2T>C
|
rs1019535182
|
|
NM_000380.4(XPA):c.677T>A (p.Leu226Ter)
|
rs1554699334
|
|
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del)
|
rs1554699326
|
|
NM_000380.4(XPA):c.732dup (p.Glu245Ter)
|
rs1554699296
|
|
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del)
|
rs758358436
|
|
NM_000380.4(XPA):c.772_785del (p.Arg258fs)
|
rs778543124
|
|
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer)
|
rs1554699256
|
|
NM_000380.4(XPA):c.817dup (p.Met273fs)
|
rs754458042
|
|