NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)
|
rs181949335
|
0.00019
|
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met)
|
rs908303704
|
|
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)
|
rs2107537096
|
|
NM_001354604.2(MITF):c.644dup (p.His215fs)
|
rs2107483975
|
|
NM_001354604.2(MITF):c.956-1G>A
|
rs1057519327
|
|
NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs)
|
rs2137308740
|
|
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter)
|
rs1554218566
|
|
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter)
|
rs2145777835
|
|
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)
|
rs1932280017
|
|
NM_006941.4(SOX10):c.44_62del (p.Val15fs)
|
rs1555939564
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_181458.4(PAX3):c.281G>T (p.Gly94Val)
|
rs2106203654
|
|
NM_181458.4(PAX3):c.586+2T>A
|
rs2106196576
|
|
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)
|
rs772241382
|
|
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)
|
rs2148046428
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
Single allele
|
|
|