NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)
|
rs149842031
|
0.00537
|
NM_000049.4(ASPA):c.*27C>T
|
rs151133430
|
0.00487
|
NM_000049.4(ASPA):c.245T>C (p.Met82Thr)
|
rs80099330
|
0.00394
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_000049.4(ASPA):c.279T>C (p.Ala93=)
|
rs144639820
|
0.00048
|
NM_000049.4(ASPA):c.10T>C (p.Cys4Arg)
|
rs142041344
|
0.00031
|
NM_000049.4(ASPA):c.832G>A (p.Val278Met)
|
rs140581464
|
0.00028
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000049.4(ASPA):c.621T>C (p.His207=)
|
rs369805590
|
0.00020
|
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser)
|
rs574328488
|
0.00017
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
NM_000049.4(ASPA):c.78C>T (p.Thr26=)
|
rs145616193
|
0.00011
|
NM_000049.4(ASPA):c.841G>A (p.Val281Met)
|
rs141858640
|
0.00010
|
NM_000049.4(ASPA):c.-152C>T
|
rs886052821
|
0.00009
|
NM_000049.4(ASPA):c.906G>A (p.Thr302=)
|
rs371394875
|
0.00009
|
NM_000049.4(ASPA):c.237-6T>C
|
rs370219865
|
0.00008
|
NM_000049.4(ASPA):c.459C>T (p.Tyr153=)
|
rs141755746
|
0.00008
|
NM_000049.4(ASPA):c.858C>T (p.Ala286=)
|
rs138062143
|
0.00008
|
NM_000049.4(ASPA):c.912T>C (p.Asn304=)
|
rs750991168
|
0.00008
|
NM_000049.4(ASPA):c.301G>T (p.Gly101Cys)
|
rs752153847
|
0.00006
|
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)
|
rs104894552
|
0.00006
|
NM_000049.4(ASPA):c.927C>T (p.Arg309=)
|
rs749049390
|
0.00006
|
NM_000049.4(ASPA):c.*246G>A
|
rs769255741
|
0.00005
|
NM_000049.4(ASPA):c.840C>T (p.Pro280=)
|
rs148081446
|
0.00005
|
NM_000049.4(ASPA):c.563G>A (p.Arg188Lys)
|
rs1272903968
|
0.00004
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00004
|
NM_000049.4(ASPA):c.303T>A (p.Gly101=)
|
rs999563868
|
0.00003
|
NM_000049.4(ASPA):c.698G>A (p.Arg233Gln)
|
rs776560292
|
0.00003
|
NM_000049.4(ASPA):c.114C>T (p.Gly38=)
|
rs767049011
|
0.00002
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
NM_000049.4(ASPA):c.369G>A (p.Gly123=)
|
rs768152290
|
0.00002
|
NM_000049.4(ASPA):c.671A>C (p.Lys224Thr)
|
rs751242787
|
0.00002
|
NM_000049.4(ASPA):c.697C>T (p.Arg233Trp)
|
rs367957948
|
0.00002
|
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)
|
rs761064915
|
0.00002
|
NM_000049.4(ASPA):c.905C>T (p.Thr302Met)
|
rs763869261
|
0.00002
|
NM_000049.4(ASPA):c.925C>T (p.Arg309Cys)
|
rs755140673
|
0.00002
|
NM_000049.4(ASPA):c.926G>A (p.Arg309His)
|
rs778121276
|
0.00002
|
NM_000049.4(ASPA):c.-6G>A
|
rs1212818519
|
0.00001
|
NM_000049.4(ASPA):c.113G>A (p.Gly38Asp)
|
rs1456006856
|
0.00001
|
NM_000049.4(ASPA):c.115G>A (p.Ala39Thr)
|
rs544167597
|
0.00001
|
NM_000049.4(ASPA):c.160A>C (p.Asn54His)
|
rs757607501
|
0.00001
|
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
|
rs779440632
|
0.00001
|
NM_000049.4(ASPA):c.166A>C (p.Arg56=)
|
rs758502972
|
0.00001
|
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)
|
rs1057516879
|
0.00001
|
NM_000049.4(ASPA):c.324C>T (p.Ser108=)
|
rs1032323308
|
0.00001
|
NM_000049.4(ASPA):c.328G>C (p.Asp110His)
|
rs781156670
|
0.00001
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
NM_000049.4(ASPA):c.372C>T (p.Cys124=)
|
rs1278404446
|
0.00001
|
NM_000049.4(ASPA):c.426C>A (p.Tyr142Ter)
|
rs1380839164
|
0.00001
|
NM_000049.4(ASPA):c.432+8T>C
|
rs1348671675
|
0.00001
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
NM_000049.4(ASPA):c.448C>T (p.Leu150=)
|
rs1597432362
|
0.00001
|
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)
|
rs769653717
|
0.00001
|
NM_000049.4(ASPA):c.483C>T (p.Ser161=)
|
rs748149345
|
0.00001
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
NM_000049.4(ASPA):c.513C>T (p.Ala171=)
|
rs1193959233
|
0.00001
|
NM_000049.4(ASPA):c.519T>C (p.Tyr173=)
|
rs1459390009
|
0.00001
|
NM_000049.4(ASPA):c.526+9T>C
|
rs1392070781
|
0.00001
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
NM_000049.4(ASPA):c.603T>C (p.His201=)
|
rs769947909
|
0.00001
|
NM_000049.4(ASPA):c.612T>C (p.Asp204=)
|
rs767152579
|
0.00001
|
NM_000049.4(ASPA):c.630T>C (p.Asn210=)
|
rs1173352103
|
0.00001
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)
|
rs528179434
|
0.00001
|
NM_000049.4(ASPA):c.767A>G (p.His256Arg)
|
rs2073954194
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
NM_000049.4(ASPA):c.809T>C (p.Ile270Thr)
|
rs200126822
|
0.00001
|
NM_000049.4(ASPA):c.819C>T (p.Gly273=)
|
rs752336086
|
0.00001
|
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)
|
rs750505963
|
0.00001
|
NM_000049.4(ASPA):c.843G>C (p.Val281=)
|
rs747218271
|
0.00001
|
NM_000049.4(ASPA):c.852T>C (p.Asn284=)
|
rs370915844
|
0.00001
|
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)
|
rs774323189
|
0.00001
|
NM_000049.4(ASPA):c.861A>G (p.Ala287=)
|
rs759018576
|
0.00001
|
NM_000049.4(ASPA):c.867C>T (p.Tyr289=)
|
rs375736464
|
0.00001
|
NM_000049.4(ASPA):c.931T>C (p.Cys311Arg)
|
rs959111875
|
0.00001
|
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)
|
rs745832703
|
0.00001
|
NC_000017.11:g.(?_3489225)_(3499098_?)del
|
|
|
NM_000049.4(ASPA):c.-105T>C
|
rs886052822
|
|
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)
|
rs2150741763
|
|
NM_000049.4(ASPA):c.102G>A (p.Trp34Ter)
|
|
|
NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)
|
|
|
NM_000049.4(ASPA):c.111T>C (p.Asn37=)
|
rs2150741777
|
|
NM_000049.4(ASPA):c.124C>T (p.Gln42Ter)
|
rs2150741788
|
|
NM_000049.4(ASPA):c.131C>G (p.Thr44Arg)
|
|
|
NM_000049.4(ASPA):c.132A>G (p.Thr44=)
|
|
|
NM_000049.4(ASPA):c.133G>C (p.Gly45Arg)
|
|
|
NM_000049.4(ASPA):c.138G>A (p.Leu46=)
|
|
|
NM_000049.4(ASPA):c.141G>A (p.Glu47=)
|
rs2150741793
|
|
NM_000049.4(ASPA):c.147dup (p.Pro50fs)
|
rs1597422432
|
|
NM_000049.4(ASPA):c.150A>G (p.Pro50=)
|
rs763718422
|
|
NM_000049.4(ASPA):c.158del (p.Thr53fs)
|
|
|
NM_000049.4(ASPA):c.15C>T (p.His5=)
|
rs749703107
|
|
NM_000049.4(ASPA):c.168A>G (p.Arg56=)
|
|
|
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)
|
|
|
NM_000049.4(ASPA):c.169G>T (p.Ala57Ser)
|
rs2150741844
|
|
NM_000049.4(ASPA):c.170C>T (p.Ala57Val)
|
rs1555538148
|
|
NM_000049.4(ASPA):c.171A>G (p.Ala57=)
|
rs1301668898
|
|
NM_000049.4(ASPA):c.171A>T (p.Ala57=)
|
|
|
NM_000049.4(ASPA):c.188G>C (p.Arg63Thr)
|
rs1555538151
|
|
NM_000049.4(ASPA):c.192T>C (p.Tyr64=)
|
|
|
NM_000049.4(ASPA):c.198C>T (p.Asp66=)
|
|
|
NM_000049.4(ASPA):c.209A>G (p.Asn70Ser)
|
|
|
NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal)
|
|
|
NM_000049.4(ASPA):c.211C>T (p.Arg71Cys)
|
rs1192320601
|
|
NM_000049.4(ASPA):c.213C>G (p.Arg71=)
|
rs2150741906
|
|
NM_000049.4(ASPA):c.224T>C (p.Leu75Pro)
|
rs2150741914
|
|
NM_000049.4(ASPA):c.230dup (p.Asn77fs)
|
rs2150741916
|
|
NM_000049.4(ASPA):c.236+13T>G
|
|
|
NM_000049.4(ASPA):c.236+17T>C
|
|
|
NM_000049.4(ASPA):c.236+1G>A
|
rs1555538157
|
|
NM_000049.4(ASPA):c.236+2T>A
|
|
|
NM_000049.4(ASPA):c.236+2T>C
|
rs1567608718
|
|
NM_000049.4(ASPA):c.236+9A>G
|
rs2073523852
|
|
NM_000049.4(ASPA):c.237-15T>C
|
|
|
NM_000049.4(ASPA):c.237-1G>A
|
rs1057517291
|
|
NM_000049.4(ASPA):c.237-1G>T
|
rs1057517291
|
|
NM_000049.4(ASPA):c.237-6T>A
|
rs370219865
|
|
NM_000049.4(ASPA):c.237-8T>C
|
rs2150746640
|
|
NM_000049.4(ASPA):c.244_245del (p.Met82fs)
|
rs786204620
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
NM_000049.4(ASPA):c.245del (p.Met82fs)
|
rs1057516962
|
|
NM_000049.4(ASPA):c.25G>T (p.Glu9Ter)
|
|
|
NM_000049.4(ASPA):c.264T>A (p.Tyr88Ter)
|
|
|
NM_000049.4(ASPA):c.276G>A (p.Arg92=)
|
rs776297759
|
|
NM_000049.4(ASPA):c.27dup (p.His10fs)
|
rs2150741648
|
|
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
|
|
|
NM_000049.4(ASPA):c.290A>G (p.Asn97Ser)
|
|
|
NM_000049.4(ASPA):c.291T>C (p.Asn97=)
|
rs1018556148
|
|
NM_000049.4(ASPA):c.291del (p.His98fs)
|
|
|
NM_000049.4(ASPA):c.303T>C (p.Gly101=)
|
rs999563868
|
|
NM_000049.4(ASPA):c.309A>G (p.Lys103=)
|
|
|
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
|
rs1209227358
|
|
NM_000049.4(ASPA):c.30T>C (p.His10=)
|
rs779344515
|
|
NM_000049.4(ASPA):c.312C>T (p.Asp104=)
|
rs2150746751
|
|
NM_000049.4(ASPA):c.315T>C (p.Ser105=)
|
rs866030859
|
|
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)
|
rs1289890879
|
|
NM_000049.4(ASPA):c.325_328dup (p.Asp110delinsValTer)
|
|
|
NM_000049.4(ASPA):c.326A>G (p.Tyr109Cys)
|
|
|
NM_000049.4(ASPA):c.32del (p.Ile11fs)
|
rs767666474
|
|
NM_000049.4(ASPA):c.330C>T (p.Asp110=)
|
|
|
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)
|
rs1446467099
|
|
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala)
|
rs2073632657
|
|
NM_000049.4(ASPA):c.342C>A (p.Asp114Glu)
|
rs2150746796
|
|
NM_000049.4(ASPA):c.342C>T (p.Asp114=)
|
rs2150746796
|
|
NM_000049.4(ASPA):c.347_348insAA (p.His116fs)
|
|
|
NM_000049.4(ASPA):c.34C>T (p.Gln12Ter)
|
rs2150741666
|
|
NM_000049.4(ASPA):c.34_46del (p.Gln12fs)
|
|
|
NM_000049.4(ASPA):c.350A>C (p.Asn117Thr)
|
|
|
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)
|
|
|
NM_000049.4(ASPA):c.359C>T (p.Ser120Phe)
|
rs2073633178
|
|
NM_000049.4(ASPA):c.362del (p.Asn121fs)
|
|
|
NM_000049.4(ASPA):c.363C>T (p.Asn121=)
|
rs1433835279
|
|
NM_000049.4(ASPA):c.369G>T (p.Gly123=)
|
rs768152290
|
|
NM_000049.4(ASPA):c.36A>G (p.Gln12=)
|
rs2150741671
|
|
NM_000049.4(ASPA):c.375T>C (p.Thr125=)
|
|
|
NM_000049.4(ASPA):c.376C>G (p.Leu126Val)
|
|
|
NM_000049.4(ASPA):c.376_377del (p.Leu126fs)
|
|
|
NM_000049.4(ASPA):c.382del (p.Glu129fs)
|
rs1555538825
|
|
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys)
|
rs773049803
|
|
NM_000049.4(ASPA):c.38A>G (p.Lys13Arg)
|
|
|
NM_000049.4(ASPA):c.393C>G (p.Ser131=)
|
rs2150746884
|
|
NM_000049.4(ASPA):c.396G>A (p.Arg132=)
|
rs766883736
|
|
NM_000049.4(ASPA):c.3G>A (p.Met1Ile)
|
|
|
NM_000049.4(ASPA):c.3G>T (p.Met1Ile)
|
rs1597422213
|
|
NM_000049.4(ASPA):c.402C>T (p.Asn134=)
|
rs2150746901
|
|
NM_000049.4(ASPA):c.405T>A (p.Phe135Leu)
|
|
|
NM_000049.4(ASPA):c.406_407del (p.Leu136fs)
|
|
|
NM_000049.4(ASPA):c.408A>G (p.Leu136=)
|
|
|
NM_000049.4(ASPA):c.40G>A (p.Val14Ile)
|
|
|
NM_000049.4(ASPA):c.40del (p.Val14fs)
|
|
|
NM_000049.4(ASPA):c.426C>T (p.Tyr142=)
|
rs1380839164
|
|
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)
|
rs199565861
|
|
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)
|
rs777936704
|
|
NM_000049.4(ASPA):c.432+10A>G
|
|
|
NM_000049.4(ASPA):c.432+12G>A
|
|
|
NM_000049.4(ASPA):c.432+13T>C
|
|
|
NM_000049.4(ASPA):c.432+1G>A
|
|
|
NM_000049.4(ASPA):c.432+1G>C
|
rs2150746934
|
|
NM_000049.4(ASPA):c.432+7T>G
|
|
|
NM_000049.4(ASPA):c.433-12G>T
|
|
|
NM_000049.4(ASPA):c.433-18G>A
|
|
|
NM_000049.4(ASPA):c.433-19C>T
|
|
|
NM_000049.4(ASPA):c.433-19_433-18dup
|
|
|
NM_000049.4(ASPA):c.433-2A>G
|
rs63751297
|
|
NM_000049.4(ASPA):c.433-5T>C
|
rs2150748578
|
|
NM_000049.4(ASPA):c.433-8T>C
|
|
|
NM_000049.4(ASPA):c.433-9T>A
|
rs2150748576
|
|
NM_000049.4(ASPA):c.434del (p.Thr145fs)
|
|
|
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
|
rs2073669074
|
|
NM_000049.4(ASPA):c.438T>C (p.Ser146=)
|
rs1481780158
|
|
NM_000049.4(ASPA):c.439C>T (p.Leu147=)
|
|
|
NM_000049.4(ASPA):c.444T>C (p.Ala148=)
|
|
|
NM_000049.4(ASPA):c.447A>G (p.Pro149=)
|
rs760702576
|
|
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)
|
rs104894548
|
|
NM_000049.4(ASPA):c.455G>C (p.Cys152Ser)
|
|
|
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
|
|
|
NM_000049.4(ASPA):c.45T>C (p.Ala15=)
|
rs2150741682
|
|
NM_000049.4(ASPA):c.460G>A (p.Val154Ile)
|
|
|
NM_000049.4(ASPA):c.470T>C (p.Ile157Thr)
|
|
|
NM_000049.4(ASPA):c.472G>T (p.Glu158Ter)
|
|
|
NM_000049.4(ASPA):c.487A>C (p.Lys163Gln)
|
|
|
NM_000049.4(ASPA):c.489A>G (p.Lys163=)
|
|
|
NM_000049.4(ASPA):c.48C>A (p.Ile16=)
|
rs2150741691
|
|
NM_000049.4(ASPA):c.492T>C (p.Tyr164=)
|
rs2150748665
|
|
NM_000049.4(ASPA):c.493G>A (p.Ala165Thr)
|
rs2150748669
|
|
NM_000049.4(ASPA):c.498C>T (p.Thr166=)
|
|
|
NM_000049.4(ASPA):c.499A>G (p.Thr167Ala)
|
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
|
NM_000049.4(ASPA):c.507C>T (p.Ser169=)
|
|
|
NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs)
|
rs1555539105
|
|
NM_000049.4(ASPA):c.526+16del
|
|
|
NM_000049.4(ASPA):c.526+1G>C
|
|
|
NM_000049.4(ASPA):c.527-12T>C
|
|
|
NM_000049.4(ASPA):c.527-14C>T
|
|
|
NM_000049.4(ASPA):c.527-18C>T
|
|
|
NM_000049.4(ASPA):c.527-1G>A
|
|
|
NM_000049.4(ASPA):c.527-20A>G
|
|
|
NM_000049.4(ASPA):c.527-2A>C
|
rs778385612
|
|
NM_000049.4(ASPA):c.527-2A>G
|
|
|
NM_000049.4(ASPA):c.527-7T>C
|
|
|
NM_000049.4(ASPA):c.528T>G (p.Gly176=)
|
rs2073778875
|
|
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr)
|
rs1597438977
|
|
NM_000049.4(ASPA):c.530_634+3del
|
|
|
NM_000049.4(ASPA):c.532_533dup (p.Val179fs)
|
|
|
NM_000049.4(ASPA):c.534A>G (p.Glu178=)
|
|
|
NM_000049.4(ASPA):c.540T>A (p.Gly180=)
|
|
|
NM_000049.4(ASPA):c.540T>C (p.Gly180=)
|
rs1203013371
|
|
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)
|
rs786204572
|
|
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)
|
rs1335267315
|
|
NM_000049.4(ASPA):c.548C>A (p.Pro183His)
|
rs1555539857
|
|
NM_000049.4(ASPA):c.548C>T (p.Pro183Leu)
|
|
|
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter)
|
rs1597439028
|
|
NM_000049.4(ASPA):c.556del (p.Val186fs)
|
rs1567614635
|
|
NM_000049.4(ASPA):c.557T>A (p.Val186Asp)
|
|
|
NM_000049.4(ASPA):c.557T>C (p.Val186Ala)
|
|
|
NM_000049.4(ASPA):c.565G>T (p.Ala189Ser)
|
|
|
NM_000049.4(ASPA):c.566C>G (p.Ala189Gly)
|
rs2150753573
|
|
NM_000049.4(ASPA):c.567T>A (p.Ala189=)
|
rs2150753579
|
|
NM_000049.4(ASPA):c.573C>T (p.Ile191=)
|
rs2073780121
|
|
NM_000049.4(ASPA):c.577del (p.Asp193fs)
|
|
|
NM_000049.4(ASPA):c.57A>C (p.Gly19=)
|
rs1597422312
|
|
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)
|
rs1482032907
|
|
NM_000049.4(ASPA):c.582A>G (p.Gln194=)
|
|
|
NM_000049.4(ASPA):c.594G>A (p.Met198Ile)
|
|
|
NM_000049.4(ASPA):c.59C>T (p.Thr20Ile)
|
|
|
NM_000049.4(ASPA):c.600A>G (p.Lys200=)
|
rs1567614678
|
|
NM_000049.4(ASPA):c.604G>C (p.Ala202Pro)
|
rs147763700
|
|
NM_000049.4(ASPA):c.606T>A (p.Ala202=)
|
rs1567614696
|
|
NM_000049.4(ASPA):c.606T>G (p.Ala202=)
|
rs1567614696
|
|
NM_000049.4(ASPA):c.609del (p.Asp204fs)
|
rs1597439149
|
|
NM_000049.4(ASPA):c.610G>C (p.Asp204His)
|
|
|
NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del)
|
rs1555539888
|
|
NM_000049.4(ASPA):c.626del (p.Phe209fs)
|
rs1555539897
|
|
NM_000049.4(ASPA):c.634+10_634+12del
|
|
|
NM_000049.4(ASPA):c.634+18del
|
|
|
NM_000049.4(ASPA):c.634+1G>A
|
|
|
NM_000049.4(ASPA):c.634+3A>G
|
|
|
NM_000049.4(ASPA):c.634+8A>G
|
rs778496275
|
|
NM_000049.4(ASPA):c.635-10T>C
|
|
|
NM_000049.4(ASPA):c.635-13G>C
|
|
|
NM_000049.4(ASPA):c.635-14T>C
|
|
|
NM_000049.4(ASPA):c.635-15T>C
|
|
|
NM_000049.4(ASPA):c.635-17T>G
|
|
|
NM_000049.4(ASPA):c.635-18del
|
|
|
NM_000049.4(ASPA):c.635-1G>C
|
|
|
NM_000049.4(ASPA):c.635-2A>G
|
|
|
NM_000049.4(ASPA):c.635-3T>C
|
|
|
NM_000049.4(ASPA):c.63T>C (p.His21=)
|
|
|
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter)
|
rs1057516416
|
|
NM_000049.4(ASPA):c.645T>C (p.Phe215=)
|
|
|
NM_000049.4(ASPA):c.649C>T (p.Pro217Ser)
|
|
|
NM_000049.4(ASPA):c.650_651del (p.Pro217fs)
|
rs1057516498
|
|
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)
|
rs104894549
|
|
NM_000049.4(ASPA):c.654C>T (p.Cys218=)
|
rs104894549
|
|
NM_000049.4(ASPA):c.659T>C (p.Ile220Thr)
|
|
|
NM_000049.4(ASPA):c.65G>A (p.Gly22Glu)
|
rs1256380639
|
|
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)
|
|
|
NM_000049.4(ASPA):c.679_682del (p.Glu227fs)
|
rs1555540674
|
|
NM_000049.4(ASPA):c.691T>C (p.Tyr231His)
|
|
|
NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys)
|
rs104894550
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000049.4(ASPA):c.697del (p.Arg233fs)
|
rs1057516315
|
|
NM_000049.4(ASPA):c.699G>C (p.Arg233=)
|
rs1347989264
|
|
NM_000049.4(ASPA):c.700G>A (p.Asp234Asn)
|
rs1459384444
|
|
NM_000049.4(ASPA):c.708T>C (p.Asn236=)
|
|
|
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)
|
rs104894551
|
|
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
|
rs2073877008
|
|
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
|
rs1057516995
|
|
NM_000049.4(ASPA):c.731A>G (p.His244Arg)
|
rs1057516995
|
|
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
|
|
|
NM_000049.4(ASPA):c.732T>C (p.His244=)
|
|
|
NM_000049.4(ASPA):c.734del (p.Pro245fs)
|
|
|
NM_000049.4(ASPA):c.739C>T (p.Leu247=)
|
rs1388861947
|
|
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
|
rs2073877343
|
|
NM_000049.4(ASPA):c.744+11T>C
|
|
|
NM_000049.4(ASPA):c.744+12T>C
|
|
|
NM_000049.4(ASPA):c.744+15T>C
|
|
|
NM_000049.4(ASPA):c.744+17C>G
|
|
|
NM_000049.4(ASPA):c.744+17_744+20del
|
|
|
NM_000049.4(ASPA):c.744+18T>C
|
|
|
NM_000049.4(ASPA):c.744+1G>A
|
rs2073877472
|
|
NM_000049.4(ASPA):c.744+6A>T
|
|
|
NM_000049.4(ASPA):c.744+8T>C
|
|
|
NM_000049.4(ASPA):c.745-11T>C
|
|
|
NM_000049.4(ASPA):c.745-14T>C
|
|
|
NM_000049.4(ASPA):c.745-15A>G
|
|
|
NM_000049.4(ASPA):c.745-16G>T
|
|
|
NM_000049.4(ASPA):c.745-17T>C
|
|
|
NM_000049.4(ASPA):c.745-1G>A
|
rs1555541278
|
|
NM_000049.4(ASPA):c.745-2A>G
|
rs1057517066
|
|
NM_000049.4(ASPA):c.745-6T>G
|
|
|
NM_000049.4(ASPA):c.759A>G (p.Lys253=)
|
|
|
NM_000049.4(ASPA):c.75A>G (p.Leu25=)
|
|
|
NM_000049.4(ASPA):c.771T>C (p.Pro257=)
|
|
|
NM_000049.4(ASPA):c.773G>C (p.Gly258Ala)
|
|
|
NM_000049.4(ASPA):c.77C>T (p.Thr26Ile)
|
rs1480068143
|
|
NM_000049.4(ASPA):c.787T>C (p.Leu263=)
|
|
|
NM_000049.4(ASPA):c.788T>C (p.Leu263Ser)
|
rs755061005
|
|
NM_000049.4(ASPA):c.796dup (p.Asp266fs)
|
rs1555541291
|
|
NM_000049.4(ASPA):c.798T>C (p.Asp266=)
|
|
|
NM_000049.4(ASPA):c.806C>T (p.Thr269Met)
|
rs773849106
|
|
NM_000049.4(ASPA):c.80del (p.Gly27fs)
|
|
|
NM_000049.4(ASPA):c.819C>A (p.Gly273=)
|
rs752336086
|
|
NM_000049.4(ASPA):c.81A>G (p.Gly27=)
|
rs1750629877
|
|
NM_000049.4(ASPA):c.821G>A (p.Gly274Glu)
|
rs2150764080
|
|
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)
|
rs1057517085
|
|
NM_000049.4(ASPA):c.831C>A (p.Thr277=)
|
rs78677072
|
|
NM_000049.4(ASPA):c.831C>G (p.Thr277=)
|
rs78677072
|
|
NM_000049.4(ASPA):c.831C>T (p.Thr277=)
|
rs78677072
|
|
NM_000049.4(ASPA):c.831del (p.Val278fs)
|
rs1555541304
|
|
NM_000049.4(ASPA):c.834G>A (p.Val278=)
|
rs1280988827
|
|
NM_000049.4(ASPA):c.839C>T (p.Pro280Leu)
|
rs1555541310
|
|
NM_000049.4(ASPA):c.843G>A (p.Val281=)
|
|
|
NM_000049.4(ASPA):c.84A>G (p.Val28=)
|
rs2150741742
|
|
NM_000049.4(ASPA):c.858C>A (p.Ala286=)
|
|
|
NM_000049.4(ASPA):c.860C>T (p.Ala287Val)
|
|
|
NM_000049.4(ASPA):c.862T>C (p.Tyr288His)
|
|
|
NM_000049.4(ASPA):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000049.4(ASPA):c.864T>C (p.Tyr288=)
|
rs2150764197
|
|
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter)
|
rs375736464
|
|
NM_000049.4(ASPA):c.868G>T (p.Glu290Ter)
|
|
|
NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del)
|
rs1555541321
|
|
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)
|
rs766720790
|
|
NM_000049.4(ASPA):c.877_878del (p.Glu293fs)
|
rs2150764223
|
|
NM_000049.4(ASPA):c.879A>G (p.Glu293=)
|
|
|
NM_000049.4(ASPA):c.87T>C (p.Phe29=)
|
|
|
NM_000049.4(ASPA):c.882T>G (p.Ala294=)
|
|
|
NM_000049.4(ASPA):c.884T>C (p.Phe295Ser)
|
|
|
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
|
|
|
NM_000049.4(ASPA):c.88C>G (p.Leu30Val)
|
|
|
NM_000049.4(ASPA):c.88C>T (p.Leu30=)
|
rs2073520755
|
|
NM_000049.4(ASPA):c.892del (p.Thr298fs)
|
|
|
NM_000049.4(ASPA):c.895A>G (p.Thr299Ala)
|
|
|
NM_000049.4(ASPA):c.896_899del (p.Thr299fs)
|
|
|
NM_000049.4(ASPA):c.899A>G (p.Lys300Arg)
|
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)
|
|
|
NM_000049.4(ASPA):c.904dup (p.Thr302fs)
|
rs2150764241
|
|
NM_000049.4(ASPA):c.909C>A (p.Leu303=)
|
rs762310899
|
|
NM_000049.4(ASPA):c.909C>T (p.Leu303=)
|
|
|
NM_000049.4(ASPA):c.921T>C (p.Ser307=)
|
|
|
NM_000049.4(ASPA):c.922del (p.Ile308fs)
|
rs1057516309
|
|
NM_000049.4(ASPA):c.924T>A (p.Ile308=)
|
|
|
NM_000049.4(ASPA):c.924del (p.Arg309fs)
|
rs1057517260
|
|
NM_000049.4(ASPA):c.928T>G (p.Cys310Gly)
|
|
|
NM_000049.4(ASPA):c.929G>A (p.Cys310Tyr)
|
|
|
NM_000049.4(ASPA):c.935T>G (p.Leu312Ter)
|
rs1555541343
|
|
NM_000049.4(ASPA):c.936A>T (p.Leu312Phe)
|
|
|
NM_000049.4(ASPA):c.99T>C (p.His33=)
|
rs1597422394
|
|