NC_000001.11:g.(?_161305674)_(161307434_?)del


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

rs121913596 
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)

rs864622732 
NM_000530.8(MPZ):c.113T>A (p.Val38Asp)


NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)

rs1553259792 
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)

rs1571820092 
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.182A>G (p.Asp61Gly)

rs786204119 
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)

rs121913585 
NM_000530.8(MPZ):c.2351G>T


NM_000530.8(MPZ):c.254G>C (p.Gly85Ala)

rs1571819324 
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.26del (p.Ser9fs)

rs1064795521 
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu)

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

rs1558154193 
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)

rs1553259691 
NM_000530.8(MPZ):c.293G>A (p.Arg98His)

rs121913589 
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)

rs1060503423 
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)

rs1558154149 
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)


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

rs121913600 
NM_000530.8(MPZ):c.309G>T (p.Gly103=)

rs1131691852 
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.325G>A (p.Asp109Asn)

rs1060503420 
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)

rs1553259663 
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)

rs1553259662 
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)

rs879254038 
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)

rs1553259656 
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)

rs267607243 
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)

rs201156403 
NM_000530.8(MPZ):c.392dup (p.Asn131fs)


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.398C>G (p.Pro133Arg)

rs1558154010 
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)

rs1558154010 
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)

rs1553259647 
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)


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

rs121913588 
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.419C>T (p.Ser140Phe)

rs863224449 
NM_000530.8(MPZ):c.424G>T (p.Val142Phe)

rs876661257 
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)

rs121913603 
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)

rs1571818632 
NM_000530.8(MPZ):c.448+1G>T

rs1407955132 
NM_000530.8(MPZ):c.448+2T>G


NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)

rs754068936 
NM_000530.8(MPZ):c.486del (p.Ile162fs)

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

rs281865128 
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)


NM_000530.8(MPZ):c.600dup (p.Lys201fs)

rs1553259529 
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs)

rs1571817544 
NM_000530.8(MPZ):c.681G>A

rs1057518021 
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)

rs1057518839 
NM_000530.8(MPZ):c.699_702del (p.Ser233fs)

rs1571817103 
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)


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

rs755446743 
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)

rs281865121 
Single allele

