NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_000213.5(ITGB4):c.2524C>T (p.Gln842Ter)
|
rs1191616106
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
NM_024876.4(COQ8B):c.893+2T>A
|
rs759259550
|
0.00001
|
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)
|
rs2125924714
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
|
|
|
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
|
|
|
NM_000441.2(SLC26A4):c.1264-12T>A
|
rs2129316889
|
|
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)
|
rs2129316898
|
|
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)
|
rs1476190682
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)
|
rs121908360
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)
|
rs1562822565
|
|
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
|
rs2129311265
|
|
NM_000441.2(SLC26A4):c.415+2T>C
|
rs2129311282
|
|
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
|
rs1315422549
|
|
NM_000503.6(EYA1):c.1050+1G>T
|
rs1816289467
|
|
NM_000503.6(EYA1):c.1140+1G>A
|
rs1812855196
|
|
NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)
|
|
|
NM_000503.6(EYA1):c.1425del (p.Asp476fs)
|
rs2128850973
|
|
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)
|
rs1131691667
|
|
NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
|
rs2107552171
|
|
NM_006941.4(SOX10):c.198_262del (p.Lys67fs)
|
rs2145777238
|
|
NM_006941.4(SOX10):c.529_556del (p.Arg177fs)
|
rs2145768352
|
|
NM_015231.3(NUP160):c.4148_4149del (p.Glu1383fs)
|
rs2135334498
|
|
NM_024426.6(WT1):c.1534C>T (p.Gln512Ter)
|
rs2132897818
|
|
NM_024753.5(TTC21B):c.497del (p.Lys166fs)
|
rs2105363277
|
|
NM_033380.3(COL4A5):c.1033-2A>G
|
rs2147787964
|
|
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)
|
rs1569493662
|
|
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val)
|
rs104886142
|
|
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser)
|
rs104886161
|
|
NM_033380.3(COL4A5):c.322-1G>T
|
rs104886375
|
|
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)
|
rs1290001124
|
|
NM_033380.3(COL4A5):c.439-1G>A
|
rs2147754967
|
|
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)
|
rs2147991725
|
|
NM_033380.3(COL4A5):c.4706+2T>C
|
rs2147998807
|
|
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)
|
rs2148001657
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs)
|
rs2148002538
|
|
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp)
|
rs104886061
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_181458.4(PAX3):c.*175C>T
|
rs780660984
|
|
NM_181458.4(PAX3):c.123del (p.Gly42fs)
|
rs2106204266
|
|