NM_000530.8(MPZ):c.*761A>G
|
rs16832786
|
0.13087
|
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.*624C>T
|
rs60821801
|
0.01537
|
NM_000530.8(MPZ):c.*568C>G
|
rs60731755
|
0.01265
|
NM_000530.8(MPZ):c.*195G>T
|
rs150182811
|
0.00828
|
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057
|
0.00663
|
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.*752G>A
|
rs533147214
|
0.00034
|
NM_000530.8(MPZ):c.*341A>G
|
rs557613782
|
0.00033
|
NM_000530.8(MPZ):c.*743C>T
|
rs140992541
|
0.00031
|
NM_000530.8(MPZ):c.*435T>G
|
rs868502674
|
0.00026
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563
|
0.00014
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472
|
0.00007
|
NM_000530.8(MPZ):c.*102C>T
|
rs774748921
|
0.00007
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
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.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
NM_000530.8(MPZ):c.*522C>A
|
rs900816889
|
0.00002
|
NM_000530.8(MPZ):c.449-9C>T
|
rs750530042
|
0.00002
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471
|
0.00001
|
NM_000530.8(MPZ):c.*369C>T
|
rs1359055917
|
0.00001
|
NM_000530.8(MPZ):c.*903G>A
|
rs1489097338
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
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.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000530.8(MPZ):c.662C>T (p.Ala221Val)
|
rs1040557288
|
0.00001
|
NC_000001.11:g.161305808_161309983dup
|
|
|
NM_000530.6(MPZ):c.[241C>T;337G>T]
|
|
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394
|
|
NM_000530.8(MPZ):c.*360C>G
|
rs6682046
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608
|
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955
|
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
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.184A>G (p.Ile62Val)
|
rs121913602
|
|
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.190_192del (p.Phe64del)
|
rs1571819975
|
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964
|
|
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
|
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.234+1G>A
|
|
|
NM_000530.8(MPZ):c.234G>A (p.Ser78=)
|
rs368149365
|
|
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.262T>A (p.Tyr88Asn)
|
|
|
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244
|
|
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.277G>A (p.Gly93Arg)
|
rs1553259691
|
|
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583
|
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
|
rs1060503423
|
|
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)
|
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.332C>T (p.Ser111Phe)
|
rs1553259663
|
|
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130
|
|
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)
|
rs1571818953
|
|
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.393C>A (p.Asn131Lys)
|
rs121913599
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647
|
|
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.403A>T (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.444A>T (p.Glu148Asp)
|
rs1670257548
|
|
NM_000530.8(MPZ):c.449-2A>G
|
rs2102258343
|
|
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
rs754068936
|
|
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
|
|
|
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128
|
|
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.584+2T>G
|
rs879254054
|
|
NM_000530.8(MPZ):c.585-2A>G
|
|
|
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129
|
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG
|
rs2102257349
|
|
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.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NP_000521.1(MPZ):p.Asn116Ser
|
|
|
Single allele
|
|
|