NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
rs1427063795
|
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.313C>A (p.Pro105Thr)
|
rs121913609
|
0.00001
|
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
|
|
|
NM_000530.6(MPZ):c.[241C>T;337G>T]
|
|
|
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
|
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596
|
|
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
|
rs121913604
|
|
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.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
rs1571819906
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
NM_000530.8(MPZ):c.234+1G>A
|
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
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.286A>G (p.Lys96Glu)
|
rs121913583
|
|
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.296T>C (p.Ile99Thr)
|
rs1571819182
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
|
|
|
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600
|
|
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126
|
|
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.401A>T (p.Asp134Val)
|
rs1571818775
|
|
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.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568
|
|
NM_000530.8(MPZ):c.560del (p.Gln187fs)
|
rs1571817966
|
|
NM_000530.8(MPZ):c.574_575del (p.Arg192fs)
|
rs1571817911
|
|
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG
|
rs2102257349
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.68-5_71del
|
rs1571820401
|
|
NP_000521.1(MPZ):p.Asn116Ser
|
|
|