NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000181.4(GUSB):c.1244+1G>A
|
rs765969571
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)
|
rs757015172
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NC_000007.14:g.(?_65967711)_(65970386_?)del
|
|
|
NC_000007.14:g.(?_65970262)_(65970386_?)del
|
|
|
NC_000007.14:g.(?_65974275)_(65982203_?)del
|
|
|
NC_000007.14:g.65974442del
|
|
|
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
|
|
|
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)
|
rs121918182
|
|
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
|
|
|
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter)
|
rs121918180
|
|
NM_000181.4(GUSB):c.1391+618_1391+619del
|
rs786200863
|
|
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
|
|
|
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
|
|
|
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)
|
rs121918183
|
|
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
|
|
|
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
|
|
|
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
|
|
|
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
|
|
|
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
|
|
|
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
|
|
|
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)
|
rs935464108
|
|
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
|
rs1236992554
|
|
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
|
|
|
NM_000181.4(GUSB):c.24del (p.Trp9fs)
|
|
|
NM_000181.4(GUSB):c.320del (p.Leu107fs)
|
|
|
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
|
|
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
|
NM_000181.4(GUSB):c.434del (p.Gly145fs)
|
|
|
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser)
|
rs121918177
|
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
|
|
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
|
|
|
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
|
|
|
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)
|
rs587779400
|
|
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
|
|
|
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
|
|
|
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
|
|
|
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
|
|
|
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
|
|
|
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
|
|
|
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
|
|
|
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
|
|
|
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
|
|
|
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
|
|
|