GRCh37/hg19 1q23.3(chr1:161255241161276497)


MPZ, 1BP DEL


MPZ, 3BP DEL/1BP INS, NT550


MPZ, ASP195TYR


MPZ, THR216GLUARG


NC_000001.11:g.(?_161305674)_(161309915_?)dup


NM_000530.6(MPZ):c.[241C>T;337G>T]


NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]


NM_000530.6(MPZ):c.[341T>C;346A>C;382G>A]


NM_000530.8(MPZ):c.23_8dup (p.Ala5fs)

rs1553260017 
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)

rs121913596 
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)

rs121913596 
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)

rs864622732 
NM_000530.8(MPZ):c.116A>C (p.His39Pro)

rs371856018 
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.149G>T (p.Cys50Phe)

rs876661287 
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)

rs1553259790 
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter)

rs1571820100 
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)

rs281865133 
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)

rs281865122 
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.184A>T (p.Ile62Phe)

rs121913602 
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)

rs121913605 
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.197G>A (p.Trp66Ter)

rs1571819946 
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)


NM_000530.8(MPZ):c.1A>G (p.Met1Val)

rs1427063795 
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)

rs1571819906 
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter)


NM_000530.8(MPZ):c.224A>T (p.Asp75Val)

rs121913597 
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.241C>T (p.His81Tyr)

rs281865123 
NM_000530.8(MPZ):c.242A>G (p.His81Arg)

rs121913594 
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)

rs281865124 
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)

rs1553259707 
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)

rs1553259703 
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)

rs267607244 
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)

rs1553259697 
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)

rs121913584 
NM_000530.8(MPZ):c.276G>A (p.Val92=)

rs1558154193 
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)

rs121913583 
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)

rs121913606 
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)

rs121913590 
NM_000530.8(MPZ):c.293G>A (p.Arg98His)

rs121913589 
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)

rs121913589 
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.302G>A (p.Trp101Ter)

rs1017715903 
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)

rs1558154149 
NM_000530.8(MPZ):c.306del (p.Asp104fs)

rs281865125 
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)

rs121913600 
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)

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.333_336del (p.Ile112fs)


NM_000530.8(MPZ):c.337G>T (p.Val113Phe)

rs281865126 
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)

rs267607241 
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)

rs281865130 
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)

rs879254038 
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)


NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)

rs121913608 
NM_000530.8(MPZ):c.371C>A (p.Thr124Lys)

rs121913595 
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)

rs121913595 
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.389A>G (p.Lys130Arg)

rs281865127 
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)

rs121913599 
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)

rs1553259648 
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)

rs879253858 
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)

rs121913587 
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)

rs121913588 
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)

rs863225025 
NM_000530.8(MPZ):c.411C>T (p.Gly137=)

rs1558153994 
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)

rs572010627 
NM_000530.8(MPZ):c.431del (p.Leu144fs)

rs1182353109 
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)

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.486del (p.Ile162fs)

rs1571818248 
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)

rs281865128 
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)

rs281865128 
NM_000530.8(MPZ):c.491dup (p.Val165fs)


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.556_559AGGC[3] (p.Ala189fs)

rs1553259566 
NM_000530.8(MPZ):c.558del (p.Arg186fs)

rs1553259568 
NM_000530.8(MPZ):c.560del (p.Gln187fs)

rs1571817966 
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)

rs1571817911 
NM_000530.8(MPZ):c.584+2T>G

rs879254054 
NM_000530.8(MPZ):c.5852A>T

rs1553259536 
NM_000530.8(MPZ):c.588dup (p.Met197fs)

rs281865129 
NM_000530.8(MPZ):c.643C>T (p.Gln215Ter)

rs121913593 
NM_000530.8(MPZ):c.645+1G>T

rs281865131 
NM_000530.8(MPZ):c.64610_650del

rs863225026 
NM_000530.8(MPZ):c.646dup (p.Thr216fs)

rs1553259511 
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)

rs281865132 
NM_000530.8(MPZ):c.67+1G>A

rs1553260014 
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

rs267607247 
NM_000530.8(MPZ):c.681G>C

rs1057518021 
NM_000530.8(MPZ):c.685_71del

rs1571820401 
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)

rs1571817146 
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)

rs755446743 
NM_000530.8(MPZ):c.77del (p.Pro26fs)

rs1558154754 
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)

rs281865121 
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)

rs770546306 
NP_000521.1(MPZ):p.Asn116Ser

