NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)
|
rs876657416
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser)
|
rs782384464
|
|
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro)
|
rs876657417
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)
|
rs397515566
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NP_000251.3(MYO7A):p.Tyr1302fsTer97
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|