LOVD - Variant listings for OTOF

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Patient data (#485)
Race -
Reference Dr. JG HL
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DNA change c.495G>C
Protein p.L165L
dbSNP ID -

23 entries in MYO7A

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.47T>C p.L16S -
?/? Unknown c.268C>T p.R90W -
?/? Unknown c.288G>A p.T96T -
?/? Unknown c.783T>C p.G261G -
?/? Unknown c.1028C>T p.A343V -
?/? Unknown c.1232T>C p.V411A -
?/? Unknown c.1605C>T p.N535N -
?/? Unknown c.2617C>T p.R873W -
?/? Unknown c.3246G>T p.T1082T -
?/? Unknown c.3828G>A p.S1276S -
?/? Unknown c.4589C>T p.S1530L -
?/? Unknown c.4755C>T p.S1585S -
?/? Unknown c.4831C>T p.L1611L -
?/? Unknown c.4845C>A p.P1615P -
?/? Unknown c.4950C>T p.N1650N -
?/? Unknown c.4996A>T p.S1666C -
?/? Unknown c.5086C>T p.R1696W -
?/? Unknown c.5598C>A p.L1866L -
?/? Unknown c.5715A>G p.K1905K -
?/? Unknown c.5730T>A p.D1910E -
?/? Unknown c.6240C>T p.S2080S -
?/? Unknown c.6318G>A p.K2106K -
?/? Unknown c.6424G>A p.D2142N -

25 entries in OTOF

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.158C>T p.A53V -
?/? Unknown c.244C>T p.R82C rs13031859
?/? Unknown c.372A>G p.T124T -
?/? Unknown c.387C>T p.D129D -
?/? Unknown c.495G>C p.L165L -
?/? Unknown c.945G>A p.K315K -
?/? Unknown c.1977G>A p.P659P -
?/? Unknown c.2022C>T p.D674D -
?/? Unknown c.2317C>T p.R773C -
?/? Unknown c.2401GA>TT p.E801L -
?/? Unknown c.2580C>G p.V860V -
?/? Unknown c.2613C>T p.L871L -
?/? Unknown c.2702C>T p.S901L -
?/? Unknown c.2703G>A p.S901S -
?/? Unknown c.2736G>C p.L912L -
?/? Unknown c.2829C>T p.G943G -
?/? Unknown c.3385G>A p.V1129M -
?/? Unknown c.3470G>A p.R1157Q -
?/? Unknown c.3608A>G p.N1203S -
?/? Unknown c.3917A>C p.K1306T -
?/? Unknown c.4310G>A p.R1437Q -
?/? Unknown c.4677G>A p.V1559V -
?/? Unknown c.4828A>G p.M1610V -
?/? Unknown c.4936C>T p.P1646S -
?/? Unknown c.5097C>T p.I1699I -

6 entries in SLC26A4

Path.
Allele Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
dbSNP ID Descending
Ascending
?/? Unknown c.535G>A p.179A>T -
?/? Unknown c.777G>T p.259E>D -
?/? Unknown c.898A>C p.300I>L -
?/? Unknown c.1790T>C p.597L>S -
?/? Unknown c.1826T>G p.609V>G -
?/? Unknown c.2186T>C p.729L>P -

For research use. Husami et al. 2006-2010

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