NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_002890.3(RASA1):c.-198G>T
|
rs149279711
|
0.00708
|
NM_002890.3(RASA1):c.304G>T (p.Val102Leu)
|
rs115606026
|
0.00315
|
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)
|
rs146525982
|
0.00278
|
NM_002890.3(RASA1):c.384C>T (p.Leu128=)
|
rs34385096
|
0.00121
|
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp)
|
rs201502793
|
0.00073
|
NM_002890.3(RASA1):c.360C>A (p.Pro120=)
|
rs137878395
|
0.00061
|
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro)
|
rs145201086
|
0.00025
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser)
|
rs775315018
|
0.00012
|
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)
|
rs371413736
|
0.00009
|
NM_002890.3(RASA1):c.319G>C (p.Val107Leu)
|
rs138308013
|
0.00008
|
NM_002890.3(RASA1):c.346C>G (p.Leu116Val)
|
rs149246093
|
0.00008
|
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg)
|
rs777805156
|
0.00007
|
NM_002890.3(RASA1):c.396C>T (p.Gly132=)
|
rs898128418
|
0.00006
|
NM_002890.3(RASA1):c.259A>T (p.Thr87Ser)
|
rs147942393
|
0.00005
|
NM_002890.3(RASA1):c.404C>G (p.Pro135Arg)
|
rs770426834
|
0.00005
|
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe)
|
rs200883284
|
0.00004
|
NM_002890.3(RASA1):c.467G>T (p.Gly156Val)
|
rs373892264
|
0.00004
|
NM_002890.3(RASA1):c.474T>C (p.Ser158=)
|
rs148256526
|
0.00004
|
NM_002890.3(RASA1):c.89A>G (p.Tyr30Cys)
|
rs376663338
|
0.00004
|
NM_002890.3(RASA1):c.105G>T (p.Arg35=)
|
rs780829562
|
0.00003
|
NM_002890.3(RASA1):c.48C>A (p.Ala16=)
|
rs566022333
|
0.00003
|
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)
|
rs749218158
|
0.00002
|
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)
|
rs755788420
|
0.00002
|
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg)
|
rs553059467
|
0.00002
|
NM_002890.3(RASA1):c.39G>T (p.Pro13=)
|
rs969604375
|
0.00002
|
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser)
|
rs765405975
|
0.00002
|
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro)
|
rs780636400
|
0.00002
|
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys)
|
rs200949838
|
0.00002
|
NM_002890.3(RASA1):c.62G>A (p.Gly21Asp)
|
rs1436547254
|
0.00002
|
NM_002890.3(RASA1):c.68C>G (p.Ala23Gly)
|
rs760944130
|
0.00002
|
NM_002890.3(RASA1):c.-179A>C
|
rs886060838
|
0.00001
|
NM_002890.3(RASA1):c.100T>C (p.Cys34Arg)
|
rs757010847
|
0.00001
|
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)
|
rs780044015
|
0.00001
|
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)
|
rs772125504
|
0.00001
|
NM_002890.3(RASA1):c.124C>T (p.Leu42=)
|
rs1753672813
|
0.00001
|
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
|
rs569976773
|
0.00001
|
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys)
|
rs1580178685
|
0.00001
|
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile)
|
rs779770765
|
0.00001
|
NM_002890.3(RASA1):c.17C>T (p.Ala6Val)
|
rs1010729751
|
0.00001
|
NM_002890.3(RASA1):c.248G>C (p.Gly83Ala)
|
rs755788420
|
0.00001
|
NM_002890.3(RASA1):c.249A>T (p.Gly83=)
|
rs1015107894
|
0.00001
|
NM_002890.3(RASA1):c.258G>C (p.Leu86=)
|
rs781199990
|
0.00001
|
NM_002890.3(RASA1):c.261_262del (p.Gly89fs)
|
rs1384480619
|
0.00001
|
NM_002890.3(RASA1):c.318T>C (p.Ala106=)
|
rs1753686148
|
0.00001
|
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
|
rs748658296
|
0.00001
|
NM_002890.3(RASA1):c.351C>T (p.Thr117=)
|
rs763970609
|
0.00001
|
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp)
|
rs1002148193
|
0.00001
|
NM_002890.3(RASA1):c.414C>G (p.Pro138=)
|
rs762661391
|
0.00001
|
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
|
rs370782901
|
0.00001
|
NM_002890.3(RASA1):c.453G>T (p.Gly151=)
|
rs778269579
|
0.00001
|
NM_002890.3(RASA1):c.480T>C (p.Asp160=)
|
rs749028647
|
0.00001
|
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr)
|
rs761820082
|
0.00001
|
NM_002890.3(RASA1):c.519G>A (p.Leu173=)
|
rs759689538
|
0.00001
|
NM_002890.3(RASA1):c.78C>T (p.Gly26=)
|
rs752084710
|
0.00001
|
NC_000005.9:g.(?_86564269)_(86564827_?)del
|
|
|
NC_000005.9:g.(?_86564269)_(86564827_?)dup
|
|
|
NC_000005.9:g.(?_86564269)_(86649072_?)dup
|
|
|
NC_000005.9:g.(?_86564269)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86564269)_(86686700_?)del
|
|
|
NC_000005.9:g.(?_86627145)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86627145)_(86672402_?)dup
|
|
|
NC_000005.9:g.(?_86633771)_(86659341_?)del
|
|
|
NC_000005.9:g.(?_86675532)_(86685364_?)dup
|
|
|
NM_002890.2:c.540-406_692+21735del
|
|
|
NM_002890.3(RASA1):c.-128GTT[2]
|
rs371042291
|
|
NM_002890.3(RASA1):c.111G>C (p.Lys37Asn)
|
|
|
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
|
|
|
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
|
|
|
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
|
|
|
NM_002890.3(RASA1):c.123C>G (p.Ala41=)
|
|
|
NM_002890.3(RASA1):c.123C>T (p.Ala41=)
|
|
|
NM_002890.3(RASA1):c.129T>C (p.Pro43=)
|
|
|
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
|
|
|
NM_002890.3(RASA1):c.138C>T (p.Ala46=)
|
|
|
NM_002890.3(RASA1):c.141C>G (p.Ala47=)
|
|
|
NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)
|
|
|
NM_002890.3(RASA1):c.142C>T (p.Pro48Ser)
|
|
|
NM_002890.3(RASA1):c.143C>A (p.Pro48His)
|
rs1580178676
|
|
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
|
rs1580178676
|
|
NM_002890.3(RASA1):c.144C>T (p.Pro48=)
|
|
|
NM_002890.3(RASA1):c.149C>T (p.Pro50Leu)
|
|
|
NM_002890.3(RASA1):c.154C>G (p.Leu52Val)
|
|
|
NM_002890.3(RASA1):c.157G>C (p.Val53Leu)
|
rs2112222387
|
|
NM_002890.3(RASA1):c.163A>G (p.Thr55Ala)
|
rs1335075421
|
|
NM_002890.3(RASA1):c.169G>A (p.Val57Met)
|
rs2112222422
|
|
NM_002890.3(RASA1):c.171G>A (p.Val57=)
|
rs750118245
|
|
NM_002890.3(RASA1):c.171G>C (p.Val57=)
|
|
|
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
|
rs2112222433
|
|
NM_002890.3(RASA1):c.17_28del (p.Ala6_Glu9del)
|
rs2112221984
|
|
NM_002890.3(RASA1):c.17_31del (p.Ala6_Glu10del)
|
|
|
NM_002890.3(RASA1):c.188G>T (p.Gly63Val)
|
rs754945616
|
|
NM_002890.3(RASA1):c.195C>T (p.Ala65=)
|
rs184163840
|
|
NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)
|
|
|
NM_002890.3(RASA1):c.1A>G (p.Met1Val)
|
|
|
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg)
|
rs1580178771
|
|
NM_002890.3(RASA1):c.202G>C (p.Gly68Arg)
|
|
|
NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)
|
|
|
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu)
|
rs2112222520
|
|
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser)
|
rs980967533
|
|
NM_002890.3(RASA1):c.223G>C (p.Gly75Arg)
|
rs1336430934
|
|
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
|
|
|
NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)
|
|
|
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
|
|
|
NM_002890.3(RASA1):c.234A>T (p.Ala78=)
|
|
|
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
|
rs764720303
|
|
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
|
|
|
NM_002890.3(RASA1):c.240A>G (p.Ala80=)
|
|
|
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
|
rs773960170
|
|
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)
|
rs767017718
|
|
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
|
|
|
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)
|
rs767017718
|
|
NM_002890.3(RASA1):c.246G>A (p.Gly82=)
|
|
|
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
|
rs755788420
|
|
NM_002890.3(RASA1):c.250G>A (p.Ala84Thr)
|
|
|
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
|
|
|
NM_002890.3(RASA1):c.251C>T (p.Ala84Val)
|
|
|
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
|
rs754858818
|
|
NM_002890.3(RASA1):c.261A>G (p.Thr87=)
|
rs775947669
|
|
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg)
|
rs369735817
|
|
NM_002890.3(RASA1):c.262G>C (p.Gly88Arg)
|
|
|
NM_002890.3(RASA1):c.263G>C (p.Gly88Ala)
|
|
|
NM_002890.3(RASA1):c.267A>T (p.Gly89=)
|
|
|
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
|
|
|
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
|
|
|
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
|
rs1205377315
|
|
NM_002890.3(RASA1):c.285A>G (p.Val95=)
|
|
|
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1])
|
rs745572583
|
|
NM_002890.3(RASA1):c.288T>C (p.Ala96=)
|
|
|
NM_002890.3(RASA1):c.288_308del (p.93AGVAGAA[1])
|
|
|
NM_002890.3(RASA1):c.291T>C (p.Gly97=)
|
rs1201250470
|
|
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
|
|
|
NM_002890.3(RASA1):c.299C>T (p.Ala100Val)
|
|
|
NM_002890.3(RASA1):c.299_319del (p.93AGVAGAA[1])
|
|
|
NM_002890.3(RASA1):c.299_319dup (p.93AGVAGAA[3])
|
rs771844907
|
|
NM_002890.3(RASA1):c.299_325del (p.Ala100_Ala108del)
|
|
|
NM_002890.3(RASA1):c.29A>T (p.Glu10Val)
|
|
|
NM_002890.3(RASA1):c.300T>C (p.Ala100=)
|
|
|
NM_002890.3(RASA1):c.302G>A (p.Gly101Asp)
|
rs2112222782
|
|
NM_002890.3(RASA1):c.302_322del (p.Gly101_Val107del)
|
rs1258942509
|
|
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
|
rs768241743
|
|
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
|
|
|
NM_002890.3(RASA1):c.310G>A (p.Gly104Ser)
|
rs2112222798
|
|
NM_002890.3(RASA1):c.311G>T (p.Gly104Val)
|
|
|
NM_002890.3(RASA1):c.315T>G (p.Ala105=)
|
|
|
NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)
|
|
|
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
|
|
|
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)
|
rs2112222851
|
|
NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)
|
|
|
NM_002890.3(RASA1):c.336A>C (p.Gly112=)
|
|
|
NM_002890.3(RASA1):c.339C>A (p.Asp113Glu)
|
|
|
NM_002890.3(RASA1):c.341T>C (p.Met114Thr)
|
|
|
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly)
|
rs576329276
|
|
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
|
rs1753664187
|
|
NM_002890.3(RASA1):c.34G>T (p.Gly12Cys)
|
rs1753664187
|
|
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu)
|
rs1580179229
|
|
NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)
|
|
|
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
|
rs1266753350
|
|
NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
|
|
|
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
|
rs137878395
|
|
NM_002890.3(RASA1):c.363T>C (p.Thr121=)
|
|
|
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
|
rs1187087405
|
|
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
|
|
|
NM_002890.3(RASA1):c.366G>A (p.Ser122=)
|
|
|
NM_002890.3(RASA1):c.36C>T (p.Gly12=)
|
|
|
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
|
|
|
NM_002890.3(RASA1):c.375T>G (p.Ala125=)
|
|
|
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
|
|
|
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
|
|
|
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
|
|
|
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val)
|
rs1554038863
|
|
NM_002890.3(RASA1):c.399T>A (p.Gly133=)
|
|
|
NM_002890.3(RASA1):c.402T>C (p.Phe134=)
|
rs1329000012
|
|
NM_002890.3(RASA1):c.402del (p.Pro136fs)
|
|
|
NM_002890.3(RASA1):c.403C>A (p.Pro135Thr)
|
|
|
NM_002890.3(RASA1):c.404C>T (p.Pro135Leu)
|
|
|
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
|
rs769463654
|
|
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)
|
rs769463654
|
|
NM_002890.3(RASA1):c.414C>T (p.Pro138=)
|
|
|
NM_002890.3(RASA1):c.415C>G (p.Pro139Ala)
|
|
|
NM_002890.3(RASA1):c.417T>G (p.Pro139=)
|
rs1753693500
|
|
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
|
rs751440049
|
|
NM_002890.3(RASA1):c.420C>G (p.Pro140=)
|
|
|
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
|
|
|
NM_002890.3(RASA1):c.429G>A (p.Leu143=)
|
rs1753694457
|
|
NM_002890.3(RASA1):c.42A>T (p.Val14=)
|
|
|
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
|
rs1753694671
|
|
NM_002890.3(RASA1):c.432C>A (p.Pro144=)
|
|
|
NM_002890.3(RASA1):c.432C>G (p.Pro144=)
|
rs1229617577
|
|
NM_002890.3(RASA1):c.432C>T (p.Pro144=)
|
|
|
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
|
|
|
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
|
|
|
NM_002890.3(RASA1):c.435T>A (p.Pro145=)
|
|
|
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
|
|
|
NM_002890.3(RASA1):c.442dup (p.Ala148fs)
|
rs751951068
|
|
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
|
|
|
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
|
rs899638423
|
|
NM_002890.3(RASA1):c.453G>A (p.Gly151=)
|
|
|
NM_002890.3(RASA1):c.453G>C (p.Gly151=)
|
|
|
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala)
|
rs1753696601
|
|
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
|
|
|
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
|
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
|
|
|
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
|
rs1753698267
|
|
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
|
|
|
NM_002890.3(RASA1):c.499del (p.Glu167fs)
|
rs2112223281
|
|
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
|
|
|
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu)
|
rs776808856
|
|
NM_002890.3(RASA1):c.516G>A (p.Pro172=)
|
|
|
NM_002890.3(RASA1):c.516G>T (p.Pro172=)
|
rs2112223315
|
|
NM_002890.3(RASA1):c.522C>T (p.Thr174=)
|
rs139686009
|
|
NM_002890.3(RASA1):c.529C>T (p.Pro177Ser)
|
|
|
NM_002890.3(RASA1):c.532A>G (p.Thr178Ala)
|
|
|
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser)
|
rs150804394
|
|
NM_002890.3(RASA1):c.538del (p.Gln180fs)
|
rs2112223340
|
|
NM_002890.3(RASA1):c.539+12C>G
|
|
|
NM_002890.3(RASA1):c.539+1G>C
|
rs2112223349
|
|
NM_002890.3(RASA1):c.539+20C>T
|
|
|
NM_002890.3(RASA1):c.539+298G>A
|
|
|
NM_002890.3(RASA1):c.539+2T>G
|
|
|
NM_002890.3(RASA1):c.539+3A>G
|
rs1561245221
|
|
NM_002890.3(RASA1):c.539+4A>G
|
|
|
NM_002890.3(RASA1):c.539+4dup
|
|
|
NM_002890.3(RASA1):c.539+6T>G
|
|
|
NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)
|
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.75G>C (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.78del (p.Ser27fs)
|
|
|
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
|
rs1753667262
|
|
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
|
|
|
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
|
|
|
NM_002890.3(RASA1):c.85G>A (p.Ala29Thr)
|
rs777487947
|
|
NM_002890.3(RASA1):c.85G>T (p.Ala29Ser)
|
|
|
NM_002890.3(RASA1):c.87C>T (p.Ala29=)
|
|
|
NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)
|
|
|
NM_002890.3(RASA1):c.91C>A (p.Pro31Thr)
|
|
|
NM_002890.3(RASA1):c.91C>T (p.Pro31Ser)
|
|
|
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)
|
rs1484820367
|
|
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
|
|
|
NM_002890.3(RASA1):c.98T>C (p.Val33Ala)
|
rs2112222218
|
|