Genename Variants
OTOF(NM_194248,otoferlin,1997aa) g.2:26688940G>A,c.4505C>T,p.T1502M
OTOF(NM_194248,otoferlin,1997aa) g.2:26687875C>A,c.4822G>T,p.D1608Y
OTOF(NM_194248,otoferlin,1997aa) g.2:26687845G>A,c.4852C>T,p.R1618C
OTOF(NM_194248,otoferlin,1997aa) g.2:26687799del,c.4898del,p.1633fs
OTOF(NM_194248,otoferlin,1997aa) g.2:26687773C>T,c.4924G>A,p.V1642I
OTOF(NM_194248,otoferlin,1997aa) g.2:26687761G>A,c.4936C>T,p.P1646S
OTOF(NM_194248,otoferlin,1997aa) g.2:26687743C>T,c.4954G>A,p.E1652K
OTOF(NM_194248,otoferlin,1997aa) g.2:26686909G>A,c.5026C>T,p.R1676C
OTOF(NM_194248,otoferlin,1997aa) g.2:26686897G>A,c.5038C>T,p.R1680C
OTOF(NM_194248,otoferlin,1997aa) g.2:26686872G>A,c.5063C>T,p.T1688M
OTOF(NM_194248,otoferlin,1997aa) g.2:26686837C>G,c.5098G>C,p.E1700Q
OTOF(NM_194248,otoferlin,1997aa) g.2:26684692G>A,c.5405C>T,p.A1802V
OTOF(NM_194248,otoferlin,1997aa) g.2:26683874C>T,c.5558G>A,p.R1853Q
OTOF(NM_194248,otoferlin,1997aa) g.2:26683860C>T,c.5572G>A,p.A1858T
OTOF(NM_194248,otoferlin,1997aa) g.2:26683071C>T,c.5816G>A,p.R1939Q
OTOA(NM_144672,otoancorin,1139aa) g.16:21747697A>C,c.2417A>C,p.Y806S
OTOA(NM_144672,otoancorin,1139aa) g.16:21747639G>T,c.2359G>T,p.E787X
OTOA(NM_144672,otoancorin,1139aa) g.16:21747633A>C,c.2353A>C,p.T785P
OTOA(NM_144672,otoancorin,1139aa) g.16:21739665C>T,c.2120C>T,p.A707V
OTOA(NM_144672,otoancorin,1139aa) g.16:21728261G>A,c.1522G>A,p.V508M
OTOA(NM_144672,otoancorin,1139aa) g.16:21726322A>G,c.1337A>G,p.N446S
OTOA(NM_144672,otoancorin,1139aa) g.16:21721369G>T,c.1265G>T,p.G422V
OTOA(NM_144672,otoancorin,1139aa) g.16:21721245C>G,c.1141C>G,p.Q381E
OTOA(NM_144672,otoancorin,1139aa) g.16:21716599G>A,c.1090G>A,p.A364T
OTOA(NM_144672,otoancorin,1139aa) g.16:21709162C>A,c.806C>A,p.S269X
OTOA(NM_144672,otoancorin,1139aa) g.16:21698939G>C,c.605G>C,p.R202P
OTOA(NM_144672,otoancorin,1139aa) g.16:21698755G>A,c.421G>A,p.D141N
OTOA(NM_144672,otoancorin,1139aa) g.16:21693140C>A,c.261C>A,p.S87R
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org