NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)
|
rs121912646
|
0.00011
|
NM_003235.5(TG):c.475C>T (p.Arg159Ter)
|
rs759267330
|
0.00004
|
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)
|
rs754658907
|
0.00004
|
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter)
|
rs375424292
|
0.00003
|
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp)
|
rs370991693
|
0.00003
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
NM_003235.5(TG):c.1143del (p.Tyr382fs)
|
rs778849740
|
0.00001
|
NM_003235.5(TG):c.48G>A (p.Trp16Ter)
|
rs780846892
|
0.00001
|
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg)
|
rs376200169
|
0.00001
|
NM_003235.5(TG):c.5686+1G>T
|
rs374620255
|
0.00001
|
NM_003235.5(TG):c.638+5G>A
|
rs774274702
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser)
|
rs898275076
|
0.00001
|
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)
|
rs137854434
|
0.00001
|
NM_003235.5(TG):c.1076-1G>C
|
rs1412480668
|
|
NM_003235.5(TG):c.1348del (p.Ser450fs)
|
|
|
NM_003235.5(TG):c.1351C>T (p.Arg451Ter)
|
rs773142559
|
|
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
|
|
|
NM_003235.5(TG):c.266dup (p.Val90fs)
|
rs1554649344
|
|
NM_003235.5(TG):c.274+2T>G
|
|
|
NM_003235.5(TG):c.275-3C>G
|
rs1587166863
|
|
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg)
|
rs137854433
|
|
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg)
|
rs121912647
|
|
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
|
|
|
NM_003235.5(TG):c.416G>A (p.Trp139Ter)
|
rs141306917
|
|
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter)
|
rs199599591
|
|
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr)
|
rs121912649
|
|
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser)
|
rs2076739
|
|
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
|
|
|
NM_003235.5(TG):c.6200-1G>C
|
rs1587678058
|
|
NM_003235.5(TG):c.638+1G>A
|
rs1587178555
|
|
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
|
|
|
NM_003235.5(TG):c.6397+2T>A
|
rs2130888037
|
|
NM_003235.5(TG):c.649dup (p.Ala217fs)
|
rs1814692109
|
|
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)
|
|
|
NM_003235.5(TG):c.6610del (p.Ser2204fs)
|
|
|
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)
|
rs121912650
|
|
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter)
|
rs1852105706
|
|
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
|
|
|