NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
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.242A>G (p.His81Arg)
|
rs121913594
|
|
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.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600
|
|
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.404T>C (p.Ile135Thr)
|
rs121913587
|
|
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588
|
|
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054
|
|
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG
|
rs2102257349
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)
|
rs104894522
|
|
NM_001136472.2(LITAF):c.430G>A (p.Val144Met)
|
rs121908615
|
|
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
|
rs3832558
|
|
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
|
rs60261494
|
|
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663
|
|
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)
|
rs199422214
|
|