NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_206933.4(USH2A):c.12067-1G>A
|
rs397517977
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178
|
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084
|
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742
|
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|