NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
0.00002
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NG_007083.1:g.371658_507674del
|
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.837+1G>A
|
rs2133130286
|
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865
|
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866
|
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867
|
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|