NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
|
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
NM_000202.8(IDS):c.104-2A>C
|
rs2089505773
|
|
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
|
rs375836575
|
|
NM_000202.8(IDS):c.1181-1G>C
|
rs864622777
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1272del (p.Pro425fs)
|
rs2123994828
|
|
NM_000202.8(IDS):c.1316del (p.Leu439fs)
|
rs2123994709
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1466del (p.Gly489fs)
|
rs2123994190
|
|
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter)
|
rs2123994176
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)
|
rs199422228
|
|
NM_000202.8(IDS):c.152_236del (p.Leu51fs)
|
rs2124065699
|
|
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
|
rs141088021
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
|
rs2089503778
|
|
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
|
rs1557340286
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.418+2T>C
|
rs2124062810
|
|
NM_000202.8(IDS):c.419-2A>G
|
rs2089476206
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
NM_000202.8(IDS):c.474del (p.His159fs)
|
rs2124055341
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.57del (p.Val20fs)
|
rs2124069318
|
|
NM_000202.8(IDS):c.601_602del (p.Ser201fs)
|
rs2124046861
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
NM_000202.8(IDS):c.709-1G>A
|
rs2089438403
|
|
NM_000202.8(IDS):c.886dup (p.Ile296fs)
|
rs2124020896
|
|
NM_000202.8(IDS):c.895dup (p.Ser299fs)
|
rs2124020775
|
|
NM_000202.8(IDS):c.955del (p.Asp319fs)
|
rs2124020278
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_001040716.2(PC):c.2668G>T (p.Val890Phe)
|
rs1555014957
|
|
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs)
|
rs2131321455
|
|