ClinVar Miner

List of variants in gene ASPA, SPATA22 studied for Spongy degeneration of central nervous system

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Gene type:
ClinVar version:
Total variants: 373
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HGVS dbSNP gnomAD frequency
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

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