NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.189+1G>A
|
|
|
NM_000080.4(CHRNE):c.190-2A>G
|
|
|
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
|
|
|
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
|
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
|
|
|
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
|
|
|
NM_000080.4(CHRNE):c.345-1G>A
|
|
|
NM_000080.4(CHRNE):c.345-2A>G
|
|
|
NM_000080.4(CHRNE):c.345-2A>T
|
rs2151098412
|
|
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
|
|
|
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)
|
rs1970039895
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
|
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.46+1G>T
|
rs746199600
|
|
NM_000080.4(CHRNE):c.47-1G>A
|
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
|
|
|
NM_000080.4(CHRNE):c.500+2T>C
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.501-1G>C
|
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
|
|
|
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
|
|
|
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)
|
rs774425374
|
|
NM_000080.4(CHRNE):c.601+1G>T
|
|
|
NM_000080.4(CHRNE):c.602-1G>A
|
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
|
|
|
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
|
|
|
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
|
|
|
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
|
|
|
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
|
|
|
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
|
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.803-1G>T
|
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
|
|
|
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
|
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
|
|
|
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
|
rs979787967
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
|
|
|
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
|
|
|
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
|
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001145536.2(C17orf107):c.*368_*378del
|
|
|