ClinVar Miner

List of variants in gene MPZ studied for Charcot-Marie-Tooth disease, type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 462
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836 0.00037
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043 0.00023
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000530.8(MPZ):c.270C>T (p.Asp90=) rs121913584 0.00010
NM_000530.8(MPZ):c.429G>T (p.Thr143=) rs138007992 0.00010
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416 0.00004
NM_000530.8(MPZ):c.234+16A>T rs1352578591 0.00003
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) rs573456055 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.449-9C>T rs750530042 0.00002
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) rs758417016 0.00002
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) rs140671661 0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000530.8(MPZ):c.102C>T (p.Thr34=) rs749600926 0.00001
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.116A>G (p.His39Arg) rs371856018 0.00001
NM_000530.8(MPZ):c.162C>A (p.Ser54=) rs373911573 0.00001
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) rs765575997 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) rs749459367 0.00001
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) rs540599381 0.00001
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) rs777338757 0.00001
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) rs1352220911 0.00001
NM_000530.8(MPZ):c.279G>A (p.Gly93=) rs778303597 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.297C>A (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055 0.00001
NM_000530.8(MPZ):c.372G>A (p.Thr124=) rs536830537 0.00001
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) rs145285010 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109 0.00001
NM_000530.8(MPZ):c.449-10C>T rs200559887 0.00001
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) rs776316386 0.00001
NM_000530.8(MPZ):c.531C>T (p.Tyr177=) rs779159258 0.00001
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) rs1238706311 0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.585-12C>G rs375616364 0.00001
NM_000530.8(MPZ):c.585-5T>C rs1026836999 0.00001
NM_000530.8(MPZ):c.645+12T>C rs750848798 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000530.8(MPZ):c.646-7C>T rs377495735 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_000530.8(MPZ):c.663A>G (p.Ala221=) rs1404344759 0.00001
NM_000530.8(MPZ):c.67+10G>A rs1252695545 0.00001
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) rs773002116 0.00001
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) rs1471261466 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.78G>C (p.Pro26=) rs777790314 0.00001
NC_000001.10:g.(?_161275666)_(161276731_?)del
NC_000001.10:g.(?_161275666)_(161279695_?)del
NC_000001.10:g.(?_161275666)_(161279695_?)dup
NC_000001.11:g.(?_161305674)_(161307434_?)del
NC_000001.11:g.(?_161305674)_(161309915_?)dup
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) rs1571820317
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) rs1670288965
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) rs1670288915
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) rs1670288858
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) rs1558155851
NM_000530.8(MPZ):c.113T>A (p.Val38Asp) rs1670288801
NM_000530.8(MPZ):c.114C>G (p.Val38=) rs1571820275
NM_000530.8(MPZ):c.119G>C (p.Gly40Ala)
NM_000530.8(MPZ):c.119G>T (p.Gly40Val)
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) rs760227243
NM_000530.8(MPZ):c.135G>A (p.Arg45=)
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) rs1571820190
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile)
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
NM_000530.8(MPZ):c.145C>A (p.His49Asn)
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) rs1571820143
NM_000530.8(MPZ):c.150C>T (p.Cys50=)
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr)
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) rs1558154644
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu) rs2102260015
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter) rs1571820100
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) rs1553259785
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.161C>T (p.Ser54Phe)
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.168G>A (p.Glu56=) rs757135674
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) rs2102259979
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.182A>T (p.Asp61Val)
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>G (p.Thr65Ser)
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) rs1060503421
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.201C>T (p.Arg67=) rs1571819920
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.209C>A (p.Pro70His)
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter) rs1558155838
NM_000530.8(MPZ):c.210C>G (p.Pro70=)
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) rs1060503422
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) rs773724920
NM_000530.8(MPZ):c.216G>A (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.216G>C (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) rs1670283272
NM_000530.8(MPZ):c.218G>A (p.Gly73Asp)
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.227C>A (p.Ala76Asp)
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) rs2102259765
NM_000530.8(MPZ):c.232dup (p.Ser78fs)
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.234+12G>A
NM_000530.8(MPZ):c.234+13G>A
NM_000530.8(MPZ):c.234+14G>A
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.234G>T (p.Ser78=)
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.235-2A>C
NM_000530.8(MPZ):c.235-2A>G
NM_000530.8(MPZ):c.235-9_267dup
NM_000530.8(MPZ):c.235A>G (p.Ile79Val)
NM_000530.8(MPZ):c.239T>G (p.Phe80Cys)
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.243C>T (p.His81=) rs1571819354
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.247G>A (p.Ala83Thr)
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) rs1670269181
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter)
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) rs1553259700
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) rs1553259700
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) rs1558154208
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.272A>C (p.Glu91Ala)
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) rs1060503418
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.28C>G (p.Pro10Ala)
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) rs2102259152
NM_000530.8(MPZ):c.295A>T (p.Ile99Phe)
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.304_305insC (p.Val102fs)
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) rs2102259119
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) rs1060503419
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.308G>C (p.Gly103Ala)
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) rs777378929
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) rs777378929
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) rs1670265880
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) rs121913609
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.322A>G (p.Lys108Glu)
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)
NM_000530.8(MPZ):c.323del (p.Lys108fs) rs2102259042
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.325G>C (p.Asp109His) rs1060503420
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) rs1670264965
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) rs1553259663
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.333C>T (p.Ser111=) rs2102258993
NM_000530.8(MPZ):c.333_336del (p.Ile112fs) rs1670264356
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.345C>A (p.His115Gln) rs752484126
NM_000530.8(MPZ):c.345del (p.His115fs) rs2102258958
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala)
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) rs2102258946
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) rs2102258946
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) rs1670263519
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) rs1670263376
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) rs878854030
NM_000530.8(MPZ):c.369C>T (p.Gly123=)
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser)
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) rs1230674741
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer) rs1553259651
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.382G>C (p.Asp128His) rs267607243
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) rs267607243
NM_000530.8(MPZ):c.385G>T (p.Val129Phe)
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) rs2102258829
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.38T>A (p.Ile13Asn)
NM_000530.8(MPZ):c.391A>C (p.Asn131His) rs1571818826
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) rs1553259649
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) rs1553259649
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) rs1553259648
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) rs1558154010
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) rs1571818775
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) rs1571818744
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) rs1571818721
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) rs1571818721
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)
NM_000530.8(MPZ):c.415_417del (p.Thr139del)
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) rs863224449
NM_000530.8(MPZ):c.424G>A (p.Val142Ile)
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.424del (p.Val142fs) rs2102258700
NM_000530.8(MPZ):c.426C>T (p.Val142=)
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis) rs1670258438
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.437T>C (p.Val146Ala) rs1571818614
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) rs1670257659
NM_000530.8(MPZ):c.448+10G>A rs1224416223
NM_000530.8(MPZ):c.448+12G>T rs2102258615
NM_000530.8(MPZ):c.448+13A>T
NM_000530.8(MPZ):c.448+17G>A rs1172824315
NM_000530.8(MPZ):c.448+19A>G
NM_000530.8(MPZ):c.448+1G>A
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.448+2T>A
NM_000530.8(MPZ):c.448+2T>C rs1670257221
NM_000530.8(MPZ):c.448+2T>G rs1670257221
NM_000530.8(MPZ):c.448G>A (p.Val150Met) rs1558153967
NM_000530.8(MPZ):c.448G>T (p.Val150Leu)
NM_000530.8(MPZ):c.449-14C>T
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.459G>C (p.Arg153Ser)
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) rs775916243
NM_000530.8(MPZ):c.468C>G (p.Val156=)
NM_000530.8(MPZ):c.470T>C (p.Val157Ala)
NM_000530.8(MPZ):c.472C>A (p.Leu158Met)
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
NM_000530.8(MPZ):c.474G>A (p.Leu158=)
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) rs267607246
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
NM_000530.8(MPZ):c.491dup (p.Val165fs) rs1558153783
NM_000530.8(MPZ):c.496del (p.Leu166fs)
NM_000530.8(MPZ):c.498C>A (p.Leu166=) rs1224818819
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.49C>T (p.Leu17=) rs2102262770
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)
NM_000530.8(MPZ):c.508_511del (p.Leu170fs)
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.523C>T (p.Leu175Phe)
NM_000530.8(MPZ):c.527_537del (p.Phe176fs)
NM_000530.8(MPZ):c.528C>G (p.Phe176Leu)
NM_000530.8(MPZ):c.529T>C (p.Tyr177His)
NM_000530.8(MPZ):c.533_534del (p.Val178fs)
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) rs1385085988
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
NM_000530.8(MPZ):c.556A>C (p.Arg186=)
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser)
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs) rs1553259566
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) rs1268318757
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) rs2102257979
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)
NM_000530.8(MPZ):c.577A>C (p.Arg193=)
NM_000530.8(MPZ):c.584+10G>C rs946514874
NM_000530.8(MPZ):c.584+16dup
NM_000530.8(MPZ):c.584+18G>C
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.584+3A>T rs1670241598
NM_000530.8(MPZ):c.584+8G>A
NM_000530.8(MPZ):c.585-15T>C
NM_000530.8(MPZ):c.585-19G>A rs1558153528
NM_000530.8(MPZ):c.585-3C>A
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.585-8T>A
NM_000530.8(MPZ):c.585-8T>C rs1571817654
NM_000530.8(MPZ):c.589A>G (p.Met197Val) rs567817208
NM_000530.8(MPZ):c.590T>G (p.Met197Arg)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.597G>A (p.Lys199=) rs777928293
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.613_616del (p.Pro205fs)
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)
NM_000530.8(MPZ):c.618A>T (p.Gly206=)
NM_000530.8(MPZ):c.638_639del (p.Gly213fs) rs2102257572
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)
NM_000530.8(MPZ):c.645+10A>G rs1670232533
NM_000530.8(MPZ):c.645+16G>A
NM_000530.8(MPZ):c.645+2T>C
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-12C>A
NM_000530.8(MPZ):c.646-13G>T
NM_000530.8(MPZ):c.646-16_654dup
NM_000530.8(MPZ):c.646-20T>G
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-5C>A rs201115971
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.646-6C>G
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
NM_000530.8(MPZ):c.648G>C (p.Thr216=)
NM_000530.8(MPZ):c.648G>T (p.Thr216=) rs755728895
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) rs281865132
NM_000530.8(MPZ):c.654G>A (p.Val218=) rs1571817228
NM_000530.8(MPZ):c.655C>T (p.Leu219=) rs1571817225
NM_000530.8(MPZ):c.656T>A (p.Leu219Gln)
NM_000530.8(MPZ):c.67+15T>A
NM_000530.8(MPZ):c.67+3A>G
NM_000530.8(MPZ):c.67+4A>G rs1571822765
NM_000530.8(MPZ):c.67+5G>T rs1670359056
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.67G>A (p.Val23Met)
NM_000530.8(MPZ):c.68-11T>C
NM_000530.8(MPZ):c.68-12T>G
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.68-2A>C rs2102260263
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.68-3C>T
NM_000530.8(MPZ):c.68-5T>G rs1553259835
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) rs2102257203
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) rs775575673
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)
NM_000530.8(MPZ):c.738T>C (p.Asp246=) rs1571816986
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
NM_000530.8(MPZ):c.744A>G (p.Lys248=)
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) rs1670223250
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro)
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) rs1386345719
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.90C>T (p.Ile30=)
NM_000530.8(MPZ):c.91G>C (p.Val31Leu)
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) rs1670289570
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609

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