NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter)
|
rs956457873
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)
|
rs763320093
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:15737239-15820210)
|
|
|
GRCh37/hg19 21q22.13(chr21:38719388-38887895)
|
|
|
GRCh38/hg38 Xp11.22(chrX:54038034-54049437)x0
|
|
|
Multiple alleles
|
|
|
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)
|
rs781790246
|
|
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)
|
rs1565430886
|
|
NM_000260.4(MYO7A):c.5326+3A>G
|
rs1565469959
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)
|
rs746667217
|
|
NM_000441.2(SLC26A4):c.1264-3C>G
|
rs1562835391
|
|
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)
|
rs1562817529
|
|
NM_000441.2(SLC26A4):c.42del (p.Glu15fs)
|
rs1562817224
|
|
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys)
|
rs1760957806
|
|
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)
|
rs1561299289
|
|
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)
|
rs538027448
|
|
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)
|
rs1559366084
|
|
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)
|
rs1560690591
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His)
|
rs1555661490
|
|
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter)
|
rs1555648043
|
|
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs)
|
rs1565819402
|
|
NM_001145026.2(PTPRQ):c.6739-1G>A
|
rs1565855932
|
|
NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs)
|
rs1562587032
|
|
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg)
|
rs752060724
|
|
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)
|
rs1559870857
|
|
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs)
|
rs1565127413
|
|
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)
|
rs878854416
|
|
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)
|
rs878854417
|
|
NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln)
|
rs1687613797
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_003805.5(CRADD):c.2T>C (p.Met1Thr)
|
rs772665884
|
|
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)
|
rs150529554
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)
|
rs1557458426
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005422.4(TECTA):c.1774G>A (p.Val592Met)
|
rs1565522273
|
|
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)
|
rs1199412903
|
|
NM_007059.4(KPTN):c.736C>T (p.Gln246Ter)
|
|
|
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)
|
rs755804651
|
|
NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)
|
rs1380982250
|
|
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)
|
rs1564113368
|
|
NM_015631.6(TCTN3):c.257-1G>A
|
rs1589623689
|
|
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu)
|
rs878854410
|
|
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His)
|
rs878854412
|
|
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs)
|
rs878854413
|
|
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His)
|
rs878854414
|
|
NM_016239.4(MYO15A):c.6178-2A>G
|
rs878854415
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly)
|
rs878854409
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)
|
rs1564805114
|
|
NM_031263.4(HNRNPK):c.1294del (p.Asp432fs)
|
rs1956764279
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter)
|
rs2087240702
|
|
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter)
|
rs773851192
|
|
NM_138691.3(TMC1):c.1224+2T>C
|
rs1564555240
|
|
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys)
|
rs761261855
|
|
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter)
|
rs1564554255
|
|
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter)
|
rs2130816341
|
|
NM_173477.5(USH1G):c.812del (p.Pro271fs)
|
rs1567939793
|
|
NM_173477.5(USH1G):c.854dup (p.Ala286fs)
|
rs1567939718
|
|
NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)
|
|
|
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)
|
rs1558490542
|
|
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)
|
rs1558480402
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
Single allele
|
|
|