NM_000430.4(PAFAH1B1):c.568+27C>T
|
rs3213696
|
0.89105
|
NM_000430.4(PAFAH1B1):c.672-10A>C
|
rs77153143
|
0.01770
|
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=)
|
rs2228614
|
0.01444
|
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)
|
rs116237011
|
0.00638
|
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)
|
rs1803915
|
0.00347
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
NM_000430.4(PAFAH1B1):c.1002C>T (p.Leu334=)
|
rs199648962
|
0.00007
|
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
|
NM_000430.4(PAFAH1B1):c.192+15T>C
|
rs587784255
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1002+1G>A
|
rs113994203
|
|
NM_000430.4(PAFAH1B1):c.1002+5G>A
|
rs587784235
|
|
NM_000430.4(PAFAH1B1):c.1003-30_1032del
|
rs1555527743
|
|
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp)
|
rs587784236
|
|
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)
|
rs587784236
|
|
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
|
rs797045855
|
|
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs)
|
rs587784237
|
|
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)
|
rs587784238
|
|
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)
|
rs587784239
|
|
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)
|
rs587784240
|
|
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
|
rs587784241
|
|
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)
|
rs587784242
|
|
NM_000430.4(PAFAH1B1):c.1159+1G>A
|
rs1057520515
|
|
NM_000430.4(PAFAH1B1):c.1159+2T>A
|
rs587784243
|
|
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr)
|
rs587784244
|
|
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)
|
rs587784245
|
|
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=)
|
rs587784246
|
|
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp)
|
rs587784247
|
|
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)
|
rs587784248
|
|
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)
|
rs587784249
|
|
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)
|
rs587784250
|
|
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys)
|
rs587784251
|
|
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)
|
rs587784252
|
|
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
|
rs587784253
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)
|
rs757993270
|
|
NM_000430.4(PAFAH1B1):c.190_192+5dup
|
rs797045857
|
|
NM_000430.4(PAFAH1B1):c.192+1G>A
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192+1G>T
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)
|
rs587784257
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs)
|
rs2151660952
|
|
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
|
rs587784258
|
|
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)
|
rs797045858
|
|
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)
|
rs587784259
|
|
NM_000430.4(PAFAH1B1):c.33-3C>G
|
rs587784260
|
|
NM_000430.4(PAFAH1B1):c.33-3C>T
|
rs587784260
|
|
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG
|
rs1555526239
|
|
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)
|
rs797045859
|
|
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg)
|
rs797045860
|
|
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)
|
rs587784261
|
|
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)
|
rs587784262
|
|
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)
|
rs587784263
|
|
NM_000430.4(PAFAH1B1):c.399+1G>A
|
rs587784264
|
|
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)
|
rs587784265
|
|
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)
|
rs587784266
|
|
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
|
rs587784267
|
|
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
|
rs797045861
|
|
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
|
rs587784268
|
|
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)
|
rs587784269
|
|
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
|
rs121434487
|
|
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)
|
rs200390886
|
|
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)
|
rs1555526718
|
|
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)
|
rs587784270
|
|
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.568+1G>A
|
rs1555526733
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000430.4(PAFAH1B1):c.569-3del
|
rs797045863
|
|
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)
|
rs587784272
|
|
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser)
|
rs975702095
|
|
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
|
rs587784273
|
|
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)
|
rs587784274
|
|
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
|
rs587784275
|
|
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)
|
rs587784276
|
|
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)
|
rs587784277
|
|
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)
|
rs587784278
|
|
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)
|
rs797045864
|
|
NM_000430.4(PAFAH1B1):c.671+4A>G
|
rs587784279
|
|
NM_000430.4(PAFAH1B1):c.671+5G>A
|
rs587784280
|
|
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)
|
rs587784281
|
|
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)
|
rs587784282
|
|
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=)
|
rs587784283
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter)
|
rs2151667800
|
|
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)
|
rs587784284
|
|
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)
|
rs797045866
|
|
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)
|
rs797045867
|
|
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)
|
rs587784285
|
|
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)
|
rs587784286
|
|
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)
|
rs587784287
|
|
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)
|
rs797045868
|
|
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)
|
rs797045869
|
|
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
|
rs121434483
|
|
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)
|
rs797045870
|
|
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)
|
rs587784288
|
|
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)
|
rs369259961
|
|
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)
|
rs587784289
|
|
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)
|
rs1555527149
|
|
NM_000430.4(PAFAH1B1):c.900+1G>A
|
rs587784290
|
|
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)
|
rs587784291
|
|
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)
|
rs587784291
|
|
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)
|
rs587784292
|
|
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)
|
rs797045871
|
|
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)
|
rs797045872
|
|
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)
|
rs587784293
|
|
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)
|
rs587784294
|
|