NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_000288.4(PEX7):c.130+48_130+53dup
|
rs11283064
|
0.50803
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_000288.4(PEX7):c.340-103A>G
|
rs2295592
|
0.10001
|
NM_000288.4(PEX7):c.803+105A>C
|
rs72985582
|
0.04283
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000288.4(PEX7):c.526+14T>C
|
rs73777756
|
0.00279
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_000288.4(PEX7):c.130+11G>A
|
rs886061119
|
0.00079
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000288.4(PEX7):c.748-16C>T
|
rs200965122
|
0.00042
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp)
|
rs1321528623
|
0.00012
|
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)
|
rs925593750
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000288.4(PEX7):c.526+19A>G
|
rs760557944
|
0.00010
|
NM_000288.4(PEX7):c.315A>T (p.Gln105His)
|
rs767901695
|
0.00007
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
NM_000288.4(PEX7):c.126C>T (p.Ile42=)
|
rs1464741803
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000288.4(PEX7):c.418-3T>C
|
rs770117560
|
0.00006
|
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
|
rs752745963
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000288.4(PEX7):c.171G>C (p.Gly57=)
|
rs750791932
|
0.00004
|
NM_000288.4(PEX7):c.203A>T (p.Asp68Val)
|
rs763388501
|
0.00004
|
NM_000288.4(PEX7):c.418-18C>G
|
rs747545013
|
0.00004
|
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
|
rs1554331549
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000288.4(PEX7):c.630T>C (p.Asn210=)
|
rs1466368201
|
0.00004
|
NM_000288.4(PEX7):c.65C>T (p.Ala22Val)
|
rs1052621653
|
0.00004
|
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu)
|
rs1003031615
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe)
|
rs760967879
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000288.4(PEX7):c.*223T>A
|
rs774681133
|
0.00003
|
NM_000288.4(PEX7):c.116A>C (p.His39Pro)
|
rs61753237
|
0.00003
|
NM_000288.4(PEX7):c.340-8G>A
|
rs528317074
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.648C>T (p.Thr216=)
|
rs754226264
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr)
|
rs375091907
|
0.00003
|
NM_000288.4(PEX7):c.803+5A>G
|
rs759078908
|
0.00003
|
NM_000288.4(PEX7):c.804-19C>T
|
rs768001113
|
0.00003
|
NM_000288.4(PEX7):c.867T>C (p.Thr289=)
|
rs936175997
|
0.00003
|
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)
|
rs757852291
|
0.00003
|
NM_000288.4(PEX7):c.903+13A>G
|
rs780555523
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
|
rs1434570255
|
0.00002
|
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
|
rs767077870
|
0.00002
|
NM_000288.4(PEX7):c.243T>C (p.His81=)
|
rs749192451
|
0.00002
|
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
|
rs770777194
|
0.00002
|
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
|
rs762113236
|
0.00002
|
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
|
rs753193218
|
0.00002
|
NM_000288.4(PEX7):c.685A>C (p.Arg229=)
|
rs772891476
|
0.00002
|
NM_000288.4(PEX7):c.748-9T>C
|
rs777611969
|
0.00002
|
NM_000288.4(PEX7):c.769G>A (p.Val257Met)
|
rs771916687
|
0.00002
|
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
|
rs751419048
|
0.00002
|
NM_000288.4(PEX7):c.950C>T (p.Ala317Val)
|
rs541306617
|
0.00002
|
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
|
rs374574552
|
0.00002
|
NM_000288.4(PEX7):c.-28G>A
|
rs376808803
|
0.00001
|
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
|
rs1316023843
|
0.00001
|
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
|
rs1256466654
|
0.00001
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.130+6G>C
|
rs1299374519
|
0.00001
|
NM_000288.4(PEX7):c.131-8C>T
|
rs765917993
|
0.00001
|
NM_000288.4(PEX7):c.144A>G (p.Leu48=)
|
rs1409718476
|
0.00001
|
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly)
|
rs765902458
|
0.00001
|
NM_000288.4(PEX7):c.168T>A (p.Ala56=)
|
rs1159376627
|
0.00001
|
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
|
rs1774097181
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.189-17G>A
|
rs775125126
|
0.00001
|
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
|
rs1229970963
|
0.00001
|
NM_000288.4(PEX7):c.240A>G (p.Glu80=)
|
rs777854575
|
0.00001
|
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
|
rs1220745269
|
0.00001
|
NM_000288.4(PEX7):c.264C>T (p.Gly88=)
|
rs775319689
|
0.00001
|
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
|
rs1391235393
|
0.00001
|
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
|
rs367806635
|
0.00001
|
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
|
rs766858149
|
0.00001
|
NM_000288.4(PEX7):c.309A>G (p.Pro103=)
|
rs1285377553
|
0.00001
|
NM_000288.4(PEX7):c.30G>A (p.Arg10=)
|
rs1330254343
|
0.00001
|
NM_000288.4(PEX7):c.324A>G (p.Lys108=)
|
rs1330909297
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile)
|
rs1181412133
|
0.00001
|
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
|
rs1325714867
|
0.00001
|
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs769137963
|
0.00001
|
NM_000288.4(PEX7):c.387G>T (p.Val129=)
|
rs772635570
|
0.00001
|
NM_000288.4(PEX7):c.393C>T (p.Gly131=)
|
rs761074779
|
0.00001
|
NM_000288.4(PEX7):c.417+9G>A
|
rs766476163
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
|
rs1253900568
|
0.00001
|
NM_000288.4(PEX7):c.442C>G (p.Leu148Val)
|
rs752606372
|
0.00001
|
NM_000288.4(PEX7):c.447C>T (p.Cys149=)
|
rs755710614
|
0.00001
|
NM_000288.4(PEX7):c.450C>T (p.Thr150=)
|
rs1774593832
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.525A>G (p.Ser175=)
|
rs771080595
|
0.00001
|
NM_000288.4(PEX7):c.527-12C>G
|
rs1290336763
|
0.00001
|
NM_000288.4(PEX7):c.534G>C (p.Gln178His)
|
rs746010906
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr)
|
rs368435862
|
0.00001
|
NM_000288.4(PEX7):c.634-7T>C
|
rs367566981
|
0.00001
|
NM_000288.4(PEX7):c.63C>T (p.Ala21=)
|
rs935581914
|
0.00001
|
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
|
rs1236779327
|
0.00001
|
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
|
rs759158962
|
0.00001
|
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
|
rs762238818
|
0.00001
|
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)
|
rs780186421
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.748-14T>A
|
rs1362218138
|
0.00001
|
NM_000288.4(PEX7):c.748-17T>C
|
rs1562746798
|
0.00001
|
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr)
|
rs770301248
|
0.00001
|
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)
|
rs62653610
|
0.00001
|
NM_000288.4(PEX7):c.78G>A (p.Pro26=)
|
rs1774100373
|
0.00001
|
NM_000288.4(PEX7):c.798T>C (p.Thr266=)
|
rs1173582316
|
0.00001
|
NM_000288.4(PEX7):c.803+4C>G
|
rs759745913
|
0.00001
|
NM_000288.4(PEX7):c.804-2A>C
|
rs774676095
|
0.00001
|
NM_000288.4(PEX7):c.82C>T (p.Leu28=)
|
rs754348931
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000288.4(PEX7):c.903+10A>G
|
rs747530925
|
0.00001
|
NM_000288.4(PEX7):c.903+6G>A
|
rs758226348
|
0.00001
|
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser)
|
rs746310299
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000288.4(PEX7):c.96G>A (p.Leu32=)
|
rs1397119638
|
0.00001
|
NM_000288.4(PEX7):c.9G>C (p.Ala3=)
|
rs1475959844
|
0.00001
|
NC_000006.11:g.(?_137143759)_(137143943_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137143953_?)dup
|
|
|
NC_000006.11:g.(?_137143759)_(137166840_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137167339_?)dup
|
|
|
NC_000006.11:g.(?_137166743)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137167201)_(137234674_?)del
|
|
|
NC_000006.11:g.(?_137187755)_(137193401_?)del
|
|
|
NC_000006.11:g.(?_137187765)_(137191141_?)dup
|
|
|
NC_000006.11:g.(?_137191125)_(137199715_?)del
|
|
|
NC_000006.12:g.(?_136821564)_(136914934_?)dup
|
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*305C>A
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305C>T
|
rs567568009
|
|
NM_000288.4(PEX7):c.*367T>C
|
rs886061124
|
|
NM_000288.4(PEX7):c.-18C>T
|
rs991168664
|
|
NM_000288.4(PEX7):c.-35G>A
|
rs886061116
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.-95T>C
|
rs1321471
|
|
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly)
|
rs1774101933
|
|
NM_000288.4(PEX7):c.105C>T (p.Ala35=)
|
|
|
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
|
|
|
NM_000288.4(PEX7):c.108C>G (p.Thr36=)
|
|
|
NM_000288.4(PEX7):c.10del (p.Val4fs)
|
|
|
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
|
rs1774102216
|
|
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
|
|
|
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
|
rs61753237
|
|
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
|
|
|
NM_000288.4(PEX7):c.117C>T (p.His39=)
|
rs779353296
|
|
NM_000288.4(PEX7):c.120C>T (p.Tyr40=)
|
rs61753238
|
|
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
|
rs1210968366
|
|
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
|
|
|
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp)
|
rs61753239
|
|
NM_000288.4(PEX7):c.123C>A (p.Gly41=)
|
|
|
NM_000288.4(PEX7):c.12G>A (p.Val4=)
|
rs2115122241
|
|
NM_000288.4(PEX7):c.12del (p.Cys5fs)
|
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
NM_000288.4(PEX7):c.130+10CGC[3]
|
|
|
NM_000288.4(PEX7):c.130+10_130+36dup
|
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+12C>T
|
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.130+13C>G
|
|
|
NM_000288.4(PEX7):c.130+13C>T
|
|
|
NM_000288.4(PEX7):c.130+15C>T
|
|
|
NM_000288.4(PEX7):c.130+16G>C
|
|
|
NM_000288.4(PEX7):c.130+16G>T
|
|
|
NM_000288.4(PEX7):c.130+20C>T
|
|
|
NM_000288.4(PEX7):c.130+2T>G
|
rs2115122957
|
|
NM_000288.4(PEX7):c.130+3G>A
|
|
|
NM_000288.4(PEX7):c.130+5G>A
|
|
|
NM_000288.4(PEX7):c.130+7C>G
|
|
|
NM_000288.4(PEX7):c.130+7C>T
|
|
|
NM_000288.4(PEX7):c.130+8G>A
|
|
|
NM_000288.4(PEX7):c.130+8G>C
|
rs1222036777
|
|
NM_000288.4(PEX7):c.130+9G>A
|
rs1184848577
|
|
NM_000288.4(PEX7):c.130+9G>C
|
rs1184848577
|
|
NM_000288.4(PEX7):c.131-10T>C
|
rs2115129012
|
|
NM_000288.4(PEX7):c.131-13T>A
|
rs1256206160
|
|
NM_000288.4(PEX7):c.131-16T>C
|
|
|
NM_000288.4(PEX7):c.131-1G>A
|
rs2115129048
|
|
NM_000288.4(PEX7):c.131-4_131-3del
|
rs768349731
|
|
NM_000288.4(PEX7):c.131-6C>G
|
rs2115129034
|
|
NM_000288.4(PEX7):c.131-7T>A
|
rs2115129029
|
|
NM_000288.4(PEX7):c.131-8C>G
|
rs765917993
|
|
NM_000288.4(PEX7):c.131-9del
|
rs760985736
|
|
NM_000288.4(PEX7):c.131-9dup
|
|
|
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr)
|
rs2115129058
|
|
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu)
|
rs2115129066
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.151T>C (p.Leu51=)
|
|
|
NM_000288.4(PEX7):c.15C>T (p.Cys5=)
|
|
|
NM_000288.4(PEX7):c.168T>C (p.Ala56=)
|
|
|
NM_000288.4(PEX7):c.171G>T (p.Gly57=)
|
rs750791932
|
|
NM_000288.4(PEX7):c.172C>T (p.Leu58=)
|
|
|
NM_000288.4(PEX7):c.175A>C (p.Arg59=)
|
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
|
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.188+2del
|
|
|
NM_000288.4(PEX7):c.188+8G>A
|
|
|
NM_000288.4(PEX7):c.189-10C>T
|
|
|
NM_000288.4(PEX7):c.189-16T>A
|
|
|
NM_000288.4(PEX7):c.189-20T>C
|
|
|
NM_000288.4(PEX7):c.189-4G>A
|
|
|
NM_000288.4(PEX7):c.189-7A>G
|
rs2115131688
|
|
NM_000288.4(PEX7):c.189-8T>A
|
rs2115131680
|
|
NM_000288.4(PEX7):c.189-9C>T
|
|
|
NM_000288.4(PEX7):c.18T>G (p.Gly6=)
|
|
|
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu)
|
rs2115131716
|
|
NM_000288.4(PEX7):c.201T>C (p.Asn67=)
|
|
|
NM_000288.4(PEX7):c.208T>C (p.Leu70=)
|
|
|
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
|
|
|
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser)
|
rs902252309
|
|
NM_000288.4(PEX7):c.213del (p.Phe71fs)
|
rs1190462422
|
|
NM_000288.4(PEX7):c.216T>C (p.Asp72=)
|
rs1582732837
|
|
NM_000288.4(PEX7):c.21A>G (p.Gly7=)
|
|
|
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
|
|
|
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
|
|
|
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
|
|
|
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
|
rs560350898
|
|
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
|
|
|
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu)
|
rs1306941707
|
|
NM_000288.4(PEX7):c.246C>T (p.Val82=)
|
|
|
NM_000288.4(PEX7):c.24G>A (p.Ala8=)
|
|
|
NM_000288.4(PEX7):c.24G>C (p.Ala8=)
|
rs978818225
|
|
NM_000288.4(PEX7):c.24G>T (p.Ala8=)
|
rs978818225
|
|
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
|
|
|
NM_000288.4(PEX7):c.255C>G (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.255C>T (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)
|
rs61753240
|
|
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
|
|
|
NM_000288.4(PEX7):c.261T>C (p.Ser87=)
|
|
|
NM_000288.4(PEX7):c.264C>A (p.Gly88=)
|
|
|
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu)
|
rs1774097710
|
|
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
|
|
|
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
|
rs532273900
|
|
NM_000288.4(PEX7):c.273G>C (p.Ser91=)
|
rs532273900
|
|
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
|
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
|
|
|
NM_000288.4(PEX7):c.279G>A (p.Gln93=)
|
|
|
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
|
rs2115122332
|
|
NM_000288.4(PEX7):c.27G>C (p.Ala9=)
|
|
|
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
|
|
|
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn)
|
rs1412257014
|
|
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
|
|
|
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
|
|
|
NM_000288.4(PEX7):c.300T>C (p.Ala100=)
|
rs2115132127
|
|
NM_000288.4(PEX7):c.310C>T (p.Leu104=)
|
rs2115132172
|
|
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
|
|
|
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
|
|
|
NM_000288.4(PEX7):c.315A>G (p.Gln105=)
|
rs767901695
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
|
|
|
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
|
|
|
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
|
|
|
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu)
|
rs760182861
|
|
NM_000288.4(PEX7):c.327A>G (p.Glu109=)
|
|
|
NM_000288.4(PEX7):c.330C>G (p.His110Gln)
|
rs199648976
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
|
rs368225510
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
|
|
|
NM_000288.4(PEX7):c.336G>A (p.Gln112=)
|
|
|
NM_000288.4(PEX7):c.339+10A>C
|
rs374668045
|
|
NM_000288.4(PEX7):c.339+14C>A
|
|
|
NM_000288.4(PEX7):c.339+15T>A
|
|
|
NM_000288.4(PEX7):c.339+17T>C
|
|
|
NM_000288.4(PEX7):c.339+19T>C
|
rs2115132321
|
|
NM_000288.4(PEX7):c.339+20G>A
|
|
|
NM_000288.4(PEX7):c.339+9G>C
|
|
|
NM_000288.4(PEX7):c.340-12C>A
|
|
|
NM_000288.4(PEX7):c.340-14T>C
|
|
|
NM_000288.4(PEX7):c.340-1G>T
|
rs780751870
|
|
NM_000288.4(PEX7):c.340-9T>C
|
|
|
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
|
|
|
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
|
rs1774581899
|
|
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
|
|
|
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
|
|
|
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649
|
|
NM_000288.4(PEX7):c.364del (p.Thr122fs)
|
rs2115170460
|
|
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
|
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
|
|
|
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
|
|
|
NM_000288.4(PEX7):c.385G>A (p.Val129Met)
|
rs746310218
|
|
NM_000288.4(PEX7):c.387G>A (p.Val129=)
|
|
|
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)
|
rs1220044805
|
|
NM_000288.4(PEX7):c.396A>G (p.Ser132=)
|
rs1774583856
|
|
NM_000288.4(PEX7):c.39G>A (p.Arg13=)
|
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
|
rs776675774
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.411C>G (p.Val137=)
|
|
|
NM_000288.4(PEX7):c.417+19A>G
|
|
|
NM_000288.4(PEX7):c.417+7T>C
|
rs2115170673
|
|
NM_000288.4(PEX7):c.417+8A>G
|
rs1162725998
|
|
NM_000288.4(PEX7):c.418-10T>C
|
rs2115171417
|
|
NM_000288.4(PEX7):c.418-15T>A
|
|
|
NM_000288.4(PEX7):c.418-16A>C
|
|
|
NM_000288.4(PEX7):c.418-18C>T
|
|
|
NM_000288.4(PEX7):c.418-1G>C
|
rs773406384
|
|
NM_000288.4(PEX7):c.418-4G>A
|
rs199552223
|
|
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
|
|
|
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
|
|
|
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
|
|
|
NM_000288.4(PEX7):c.429T>G (p.Thr143=)
|
|
|
NM_000288.4(PEX7):c.444G>A (p.Leu148=)
|
rs2115171520
|
|
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
|
|
|
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
|
|
|
NM_000288.4(PEX7):c.459C>G (p.Gly153=)
|
|
|
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000288.4(PEX7):c.462T>C (p.His154=)
|
rs753312829
|
|
NM_000288.4(PEX7):c.465A>G (p.Glu155=)
|
rs1582745048
|
|
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
|
|
|
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
|
rs1774098770
|
|
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
|
rs2115171634
|
|
NM_000288.4(PEX7):c.477T>C (p.Tyr159=)
|
|
|
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
|
rs2115171668
|
|
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
|
|
|
NM_000288.4(PEX7):c.486C>T (p.Ile162=)
|
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
|
|
|
NM_000288.4(PEX7):c.48A>G (p.Gly16=)
|
|
|
NM_000288.4(PEX7):c.492T>G (p.Ser164=)
|
|
|
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
|
|
|
NM_000288.4(PEX7):c.495C>G (p.Pro165=)
|
rs2115171713
|
|
NM_000288.4(PEX7):c.498C>T (p.His166=)
|
|
|
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
|
rs1774099032
|
|
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
|
rs770113657
|
|
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
|
|
|
NM_000288.4(PEX7):c.507T>C (p.Gly169=)
|
|
|
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
|
|
|
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
|
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.513T>C (p.Phe171=)
|
rs2115171775
|
|
NM_000288.4(PEX7):c.513del (p.Phe171fs)
|
|
|
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro)
|
rs1562734989
|
|
NM_000288.4(PEX7):c.516T>C (p.Ala172=)
|
rs2115171786
|
|
NM_000288.4(PEX7):c.516T>G (p.Ala172=)
|
rs2115171786
|
|
NM_000288.4(PEX7):c.517del (p.Ser173fs)
|
rs2115171791
|
|
NM_000288.4(PEX7):c.519A>G (p.Ser173=)
|
|
|
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
|
rs2115171796
|
|
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
|
|
|
NM_000288.4(PEX7):c.526+12T>C
|
|
|
NM_000288.4(PEX7):c.526+15A>G
|
|
|
NM_000288.4(PEX7):c.526+7T>A
|
|
|
NM_000288.4(PEX7):c.526+8A>T
|
|
|
NM_000288.4(PEX7):c.526+9T>C
|
|
|
NM_000288.4(PEX7):c.527-11C>G
|
|
|
NM_000288.4(PEX7):c.527-11C>T
|
|
|
NM_000288.4(PEX7):c.527-15C>T
|
rs771346363
|
|
NM_000288.4(PEX7):c.527-17G>A
|
|
|
NM_000288.4(PEX7):c.527-5A>G
|
rs1222228219
|
|
NM_000288.4(PEX7):c.527-6dup
|
|
|
NM_000288.4(PEX7):c.52dup (p.His18fs)
|
|
|
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
|
|
|
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
|
|
|
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
|
|
|
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)
|
rs1582757650
|
|
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
|
|
|
NM_000288.4(PEX7):c.53A>G (p.His18Arg)
|
rs2115122498
|
|
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
|
|
|
NM_000288.4(PEX7):c.546_547del (p.Ile182fs)
|
rs2115216632
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.54C>T (p.His18=)
|
rs1188167149
|
|
NM_000288.4(PEX7):c.558G>A (p.Lys186=)
|
|
|
NM_000288.4(PEX7):c.561A>G (p.Ala187=)
|
rs2115216726
|
|
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
|
|
|
NM_000288.4(PEX7):c.570A>G (p.Val190=)
|
rs1392688180
|
|
NM_000288.4(PEX7):c.57C>T (p.Gly19=)
|
rs2115122524
|
|
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs)
|
rs2115122515
|
|
NM_000288.4(PEX7):c.587C>T (p.Ala196Val)
|
rs2115216804
|
|
NM_000288.4(PEX7):c.597A>G (p.Ala199=)
|
rs1775078603
|
|
NM_000288.4(PEX7):c.609T>C (p.Ser203=)
|
|
|
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
|
|
|
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
|
|
|
NM_000288.4(PEX7):c.633+11T>G
|
|
|
NM_000288.4(PEX7):c.633+15del
|
|
|
NM_000288.4(PEX7):c.633+16C>T
|
|
|
NM_000288.4(PEX7):c.633+17T>C
|
|
|
NM_000288.4(PEX7):c.633+18A>G
|
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.633+20C>T
|
|
|
NM_000288.4(PEX7):c.633+3A>G
|
|
|
NM_000288.4(PEX7):c.633+5_633+8dup
|
|
|
NM_000288.4(PEX7):c.633+7T>C
|
rs1189483255
|
|
NM_000288.4(PEX7):c.633+8G>A
|
rs2115216969
|
|
NM_000288.4(PEX7):c.634-13G>C
|
|
|
NM_000288.4(PEX7):c.634-16T>G
|
|
|
NM_000288.4(PEX7):c.634-2A>G
|
|
|
NM_000288.4(PEX7):c.634-4_634-3del
|
|
|
NM_000288.4(PEX7):c.634-8G>C
|
|
|
NM_000288.4(PEX7):c.634-9T>C
|
|
|
NM_000288.4(PEX7):c.636T>C (p.Asn212=)
|
rs2115224289
|
|
NM_000288.4(PEX7):c.639G>A (p.Leu213=)
|
rs2115224297
|
|
NM_000288.4(PEX7):c.63C>A (p.Ala21=)
|
rs935581914
|
|
NM_000288.4(PEX7):c.63C>G (p.Ala21=)
|
rs935581914
|
|
NM_000288.4(PEX7):c.640C>T (p.Leu214=)
|
rs1582759870
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
|
rs754226264
|
|
NM_000288.4(PEX7):c.652del (p.Ala218fs)
|
|
|
NM_000288.4(PEX7):c.654G>T (p.Ala218=)
|
rs1414537422
|
|
NM_000288.4(PEX7):c.66C>G (p.Ala22=)
|
|
|
NM_000288.4(PEX7):c.66C>T (p.Ala22=)
|
rs1208528237
|
|
NM_000288.4(PEX7):c.672A>G (p.Arg224=)
|
rs747145944
|
|
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
|
|
|
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.690T>C (p.Asn230=)
|
rs762666939
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.699A>G (p.Gln233=)
|
rs2115224521
|
|
NM_000288.4(PEX7):c.69G>A (p.Glu23=)
|
|
|
NM_000288.4(PEX7):c.702A>G (p.Pro234=)
|
|
|
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
|
|
|
NM_000288.4(PEX7):c.705G>T (p.Val235=)
|
|
|
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro)
|
rs754346713
|
|
NM_000288.4(PEX7):c.717T>A (p.Leu239=)
|
|
|
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
|
|
|
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
|
rs1774100078
|
|
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser)
|
rs375091907
|
|
NM_000288.4(PEX7):c.733A>G (p.Ile245Val)
|
rs750815894
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.737G>T (p.Arg246Met)
|
rs780186421
|
|
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
|
rs2115224658
|
|
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
|
rs201562684
|
|
NM_000288.4(PEX7):c.747+10C>T
|
rs2115224694
|
|
NM_000288.4(PEX7):c.747+11A>G
|
|
|
NM_000288.4(PEX7):c.747+11A>T
|
rs370027126
|
|
NM_000288.4(PEX7):c.747+17del
|
rs2115224706
|
|
NM_000288.4(PEX7):c.747+18C>T
|
|
|
NM_000288.4(PEX7):c.747+1G>A
|
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
NM_000288.4(PEX7):c.747+2T>A
|
|
|
NM_000288.4(PEX7):c.747+5G>A
|
rs1775145774
|
|
NM_000288.4(PEX7):c.747del (p.Lys249fs)
|
|
|
NM_000288.4(PEX7):c.748-13T>C
|
|
|
NM_000288.4(PEX7):c.748-14T>C
|
|
|
NM_000288.4(PEX7):c.748-16C>A
|
|
|
NM_000288.4(PEX7):c.748-16_748-14del
|
rs2115228612
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-5dup
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-6T>G
|
|
|
NM_000288.4(PEX7):c.748-6_748-5dup
|
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
|
|
|
NM_000288.4(PEX7):c.759T>C (p.Phe253=)
|
rs1237865567
|
|
NM_000288.4(PEX7):c.75C>T (p.Ser25=)
|
rs1774100185
|
|
NM_000288.4(PEX7):c.765T>G (p.Ala255=)
|
|
|
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
|
|
|
NM_000288.4(PEX7):c.772C>T (p.Leu258=)
|
|
|
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
|
rs2115228915
|
|
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
|
|
|
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
|
|
|
NM_000288.4(PEX7):c.780T>C (p.Ser260=)
|
rs2115228945
|
|
NM_000288.4(PEX7):c.783C>T (p.Cys261=)
|
|
|
NM_000288.4(PEX7):c.789T>C (p.Tyr263=)
|
rs2115229029
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
|
|
|
NM_000288.4(PEX7):c.803+14dup
|
rs777087989
|
|
NM_000288.4(PEX7):c.803+1G>A
|
|
|
NM_000288.4(PEX7):c.803+20A>C
|
|
|
NM_000288.4(PEX7):c.803+5A>C
|
|
|
NM_000288.4(PEX7):c.803+9G>A
|
|
|
NM_000288.4(PEX7):c.803+9_803+10del
|
rs2115229196
|
|
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
|
|
|
NM_000288.4(PEX7):c.804-10A>G
|
|
|
NM_000288.4(PEX7):c.804-12T>C
|
|
|
NM_000288.4(PEX7):c.804-14A>G
|
|
|
NM_000288.4(PEX7):c.804-8C>G
|
rs2115272911
|
|
NM_000288.4(PEX7):c.804-9T>C
|
|
|
NM_000288.4(PEX7):c.813C>T (p.Asn271=)
|
rs2115272944
|
|
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
|
|
|
NM_000288.4(PEX7):c.81C>T (p.Tyr27=)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.822G>A (p.Lys274=)
|
rs2115272962
|
|
NM_000288.4(PEX7):c.828C>T (p.Asp276=)
|
|
|
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
|
|
|
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
|
rs1775685342
|
|
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala)
|
rs2115273002
|
|
NM_000288.4(PEX7):c.84G>A (p.Leu28=)
|
rs1167579335
|
|
NM_000288.4(PEX7):c.84G>C (p.Leu28=)
|
|
|
NM_000288.4(PEX7):c.855T>C (p.His285=)
|
rs2115273033
|
|
NM_000288.4(PEX7):c.858A>G (p.Thr286=)
|
|
|
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
|
|
|
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
|
|
|
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
|
rs2115273041
|
|
NM_000288.4(PEX7):c.861G>A (p.Glu287=)
|
|
|
NM_000288.4(PEX7):c.870T>C (p.Cys290=)
|
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.876A>G (p.Leu292=)
|
|
|
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
|
|
|
NM_000288.4(PEX7):c.87G>A (p.Pro29=)
|
|
|
NM_000288.4(PEX7):c.87G>C (p.Pro29=)
|
|
|
NM_000288.4(PEX7):c.882C>T (p.Phe294=)
|
rs1775686747
|
|
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
|
|
|
NM_000288.4(PEX7):c.900T>A (p.Thr300=)
|
|
|
NM_000288.4(PEX7):c.903+10A>T
|
rs747530925
|
|
NM_000288.4(PEX7):c.903+12A>G
|
|
|
NM_000288.4(PEX7):c.903+20G>A
|
|
|
NM_000288.4(PEX7):c.903+5C>T
|
|
|
NM_000288.4(PEX7):c.903+7G>T
|
rs1227993935
|
|
NM_000288.4(PEX7):c.903+8A>T
|
|
|
NM_000288.4(PEX7):c.904-10del
|
|
|
NM_000288.4(PEX7):c.904-16C>T
|
|
|
NM_000288.4(PEX7):c.904-20_904-17del
|
|
|
NM_000288.4(PEX7):c.904-4C>G
|
rs1775964629
|
|
NM_000288.4(PEX7):c.904-9G>A
|
rs1175458353
|
|
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
|
rs2115122724
|
|
NM_000288.4(PEX7):c.90C>T (p.Gly30=)
|
rs2115122724
|
|
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
|
|
|
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
|
rs267608258
|
|
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
|
|
|
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu)
|
rs2115300138
|
|
NM_000288.4(PEX7):c.951T>C (p.Ala317=)
|
rs2115300178
|
|
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
|
rs1275603952
|
|
NM_000288.4(PEX7):c.960T>C (p.Thr320=)
|
|
|
NM_000288.4(PEX7):c.960T>G (p.Thr320=)
|
|
|
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
|
|
|
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
|
rs1184131500
|
|
NM_000288.4(PEX7):c.969T>A (p.Ala323=)
|
|
|
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
|
rs988988279
|
|
NM_000288.4(PEX7):c.9G>A (p.Ala3=)
|
rs1475959844
|
|