NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
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rs35887622
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0.00966
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NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
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rs72474224
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0.00354
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NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
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rs80338945
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0.00066
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NM_004004.6(GJB2):c.167del (p.Leu56fs)
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rs80338942
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0.00058
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NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
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rs200242497
|
0.00056
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NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
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rs76434661
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0.00047
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NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
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rs80338948
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0.00021
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NM_004004.6(GJB2):c.-23+1G>A
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rs80338940
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0.00017
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NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
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rs111033294
|
0.00016
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NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
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rs104894398
|
0.00013
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NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
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rs104894397
|
0.00011
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NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
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rs765172751
|
0.00004
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NM_004004.6(GJB2):c.299_300del (p.His100fs)
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rs111033204
|
0.00003
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NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
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rs104894396
|
0.00002
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NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
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rs535635403
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
|
rs753674300
|
0.00001
|
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
|
|
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NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
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NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
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|
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NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
|
|
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NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
|
|
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NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
|
|
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NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
|
|
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NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
|
|
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NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
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|
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NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
|
|
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NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
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|
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NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
|
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NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
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NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
|
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NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
|
|
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NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
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NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
|
|
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NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
|
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NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
|
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NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
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NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
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NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
|
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NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
|
|
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NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
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NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
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NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
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NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
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NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
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rs373684994
|
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NM_004004.6(GJB2):c.585G>C (p.Met195Ile)
|
rs570552952
|
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