|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
|
NM_173477.5(USH1G):c.955A>G (p.Arg319Gly)
|
rs780717575
|
0.00007
|
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
|
NM_001001331.4(ATP2B2):c.2953G>A (p.Ala985Thr)
|
rs146069247
|
0.00005
|
|
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met)
|
rs371671996
|
0.00005
|
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
|
NM_004526.4(MCM2):c.2444G>A (p.Arg815His)
|
rs779228557
|
0.00003
|
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
|
NM_004700.4(KCNQ4):c.1664C>T (p.Pro555Leu)
|
rs764622728
|
0.00001
|
|
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys)
|
rs373674747
|
0.00001
|
|
NM_000260.4(MYO7A):c.535A>G (p.Ser179Gly)
|
|
|
|
NM_001001331.4(ATP2B2):c.1129A>C (p.Ser377Arg)
|
|
|
|
NM_001001331.4(ATP2B2):c.2336A>G (p.Asp779Gly)
|
|
|
|
NM_001001331.4(ATP2B2):c.3059G>A (p.Arg1020His)
|
|
|
|
NM_001142966.3(GREB1L):c.5666G>A (p.Arg1889His)
|
|
|
|
NM_001145809.2(MYH14):c.659C>T (p.Ser220Leu)
|
|
|
|
NM_001191057.4(PDE1C):c.1083-7T>C
|
|
|
|
NM_001191057.4(PDE1C):c.134G>A (p.Arg45Gln)
|
|
|
|
NM_001191057.4(PDE1C):c.376C>G (p.Arg126Gly)
|
|
|
|
NM_001371333.1(DIABLO):c.274A>G (p.Thr92Ala)
|
|
|
|
NM_001375524.1(TRRAP):c.10307C>T (p.Thr3436Met)
|
|
|
|
NM_001375524.1(TRRAP):c.5791A>G (p.Met1931Val)
|
|
|
|
NM_001614.5(ACTG1):c.166G>A (p.Asp56Asn)
|
|
|
|
NM_001614.5(ACTG1):c.46A>C (p.Met16Leu)
|
|
|
|
NM_001614.5(ACTG1):c.56C>T (p.Ala19Val)
|
|
|
|
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
|
|
|
|
NM_001854.4(COL11A1):c.1777G>A (p.Glu593Lys)
|
|
|
|
NM_001854.4(COL11A1):c.347T>C (p.Leu116Ser)
|
|
|
|
NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp)
|
rs2100925542
|
|
|
NM_002160.4(TNC):c.2447A>G (p.Asp816Gly)
|
|
|
|
NM_002160.4(TNC):c.3047G>A (p.Arg1016His)
|
|
|
|
NM_002160.4(TNC):c.3295_3297delinsAAT (p.Gln1099Asn)
|
|
|
|
NM_002473.6(MYH9):c.3613C>A (p.Leu1205Met)
|
|
|
|
NM_004526.4(MCM2):c.1684C>T (p.Arg562Trp)
|
|
|
|
NM_004700.4(KCNQ4):c.1672G>A (p.Val558Met)
|
|
|
|
NM_004999.4(MYO6):c.1810T>A (p.Ser604Thr)
|
|
|
|
NM_005219.5(DIAPH1):c.3469G>A (p.Glu1157Lys)
|
|
|
|
NM_005982.4(SIX1):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_005982.4(SIX1):c.175C>T (p.His59Tyr)
|
|
|
|
NM_006005.3(WFS1):c.2315G>A (p.Arg772His)
|
rs758646445
|
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
|
NM_022124.6(CDH23):c.6532A>T (p.Ile2178Phe)
|
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
|
NM_139319.3(SLC17A8):c.797T>C (p.Leu266Pro)
|
|
|
|
NM_194248.3(OTOF):c.3863C>T (p.Ala1288Val)
|
|
|
|
NM_198999.3(SLC26A5):c.1487T>C (p.Leu496Pro)
|
|
|
|
NM_198999.3(SLC26A5):c.2125G>C (p.Ala709Pro)
|
|
|