Genename |
Variants |
BLID(NM_001001786,BH3-like motif containing, cell death inducer,108aa) |
g.11:121986405C>T,c.226G>A,p.A76T |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103528225G>A,c.4895G>A,p.R1632H |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103528104G>A,c.4774G>A,p.V1592M |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103528048C>T,c.4718C>T,p.A1573V |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103528002G>C,c.4672G>C,p.D1558H |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103527930G>C,c.4600G>C,p.G1534R |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103527849G>C,c.4519G>C,p.G1507R |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103527687T>G,c.4357T>G,p.L1453V |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103520565A>G,c.3998A>G,p.N1333S |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103518620G>C,c.3570G>C,p.L1190F |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103518170A>G,c.3470A>G,p.D1157G |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103515379C>A,c.3242C>A,p.A1081E |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103515085G>C,c.2948G>C,p.C983S |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103514871G>A,c.2734G>A,p.V912I |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103514608G>A,c.2471G>A,p.R824H |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103514060A>G,c.2238A>G,p.I746M |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103513971C>T,c.2149C>T,p.R717X |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103513951A>G,c.2129A>G,p.Q710R |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103513944A>G,c.2122A>G,p.M708V |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103510736C>T,c.2002C>T,p.R668C |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103510650C>T,c.1916C>T,p.A639V |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103510638A>G,c.1904A>G,p.H635R |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103506690G>A,c.1795G>A,p.V599I |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103492133C>T,c.1430C>T,p.S477L |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103492093C>T,c.1390C>T,p.R464C |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103492048G>C,c.1345G>C,p.A449P |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103459988A>C,c.371A>C,p.E124A |
BIVM-ERCC5(NM_001204425,BIVM-ERCC5 readthrough,1640aa) |
g.13:103459861A>G,c.244A>G,p.I82V |