NM_000530.8(MPZ):c.10_6dup


NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)


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

rs121913596 
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.128G>T (p.Gly43Val)


NM_000530.8(MPZ):c.129_136del (p.Ser44fs)

rs760730366 
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)


NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)


NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)

rs121913598 
NM_000530.8(MPZ):c.136G>A (p.Val46Met)


NM_000530.8(MPZ):c.142C>G (p.Leu48Val)


NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)


NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)


NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)


NM_000530.8(MPZ):c.149_151del (p.Cys50del)


NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)


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

rs1553259790 
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)


NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)


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

rs281865133 
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)


NM_000530.8(MPZ):c.172G>T (p.Val58Phe)

rs1341175303 
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)


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.188_190del (p.Ser63del)

rs879254109 
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)

rs1553259760 
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)


NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)


NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)


NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)


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


NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)


NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)


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


NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)


NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)


NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)


NM_000530.8(MPZ):c.223del (p.Asp75fs)


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

rs121913597 
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)


NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)

rs121913601 
NM_000530.8(MPZ):c.2351G>C


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)


NM_000530.8(MPZ):c.243C>G (p.His81Gln)


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

rs281865124 
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)


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.270C>A (p.Asp90Glu)

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

rs1558154193 
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)

rs1060503418 
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)


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

rs121913583 
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)


NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)


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

rs121913589 
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)


NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)

rs1553259683 
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)


NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)


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

rs281865125 
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)


NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)


NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)

rs1060503420 
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)


NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)


NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)

rs1553259663 
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)


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>C (p.Ile114Thr)

rs267607241 
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)


NM_000530.8(MPZ):c.346A>C (p.Asn116His)

rs267607242 
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)

rs281865130 
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)


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

rs879254038 
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)


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

rs121913608 
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)


NM_000530.8(MPZ):c.368G>T (p.Gly123Val)


NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)


NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)


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

rs121913595 
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)

rs267607243 
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)


NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)


NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)


NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)


NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)


NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)


NM_000530.8(MPZ):c.396_397del (p.Pro133fs)


NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)


NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)

rs1553259647 
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)


NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)


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

rs879253858 
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)


NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)


NM_000530.8(MPZ):c.410G>T (p.Gly137Val)


NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)


NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)


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

rs572010627 
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)

rs863224449 
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)


NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)


NM_000530.8(MPZ):c.428C>T (p.Thr143Met)

rs750724650 
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)


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

rs1182353109 
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)

rs1553259643 
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)


NM_000530.8(MPZ):c.436G>T (p.Val146Phe)


NM_000530.8(MPZ):c.437T>G (p.Val146Gly)


NM_000530.8(MPZ):c.4491G>A


NM_000530.8(MPZ):c.4491G>C


NM_000530.8(MPZ):c.4491G>T


NM_000530.8(MPZ):c.4499C>T


NM_000530.8(MPZ):c.45T>G (p.Ala15=)


NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)


NM_000530.8(MPZ):c.486del (p.Ile162fs)


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.499G>A (p.Gly167Arg)

rs121913586 
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)


NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)


NM_000530.8(MPZ):c.553del (p.Arg185fs)


NM_000530.8(MPZ):c.554del (p.Arg185fs)


NM_000530.8(MPZ):c.560_566del (p.Gln187fs)


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


NM_000530.8(MPZ):c.570del (p.Gln191fs)


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


NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)


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

rs879254054 
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)


NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)


NM_000530.8(MPZ):c.626_630del (p.Ala209fs)


NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)

rs202176679 
NM_000530.8(MPZ):c.645+1G>T

rs281865131 
NM_000530.8(MPZ):c.645+2dup


NM_000530.8(MPZ):c.64610_650del

rs863225026 
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)

rs281865132 
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

rs267607247 
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)


NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)


NM_000530.8(MPZ):c.685_71del


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


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

rs755446743 
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)


NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)


NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)


NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)


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

rs770546306 
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)


NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)

