Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17612667A=CA1955233070OTOGc.6376A= (p.Ser2126=)
c.6340A= (p.Ser2114=)
c.3394A= (p.Ser1132=)
11g.17612667A>CCA379804307OTOGc.6376A>C (p.Ser2126Arg)
c.6340A>C (p.Ser2114Arg)
c.3394A>C (p.Ser1132Arg)
 gnomAD v4
11g.17612667A>GCA379804309OTOGc.6376A>G (p.Ser2126Gly)
c.6340A>G (p.Ser2114Gly)
c.3394A>G (p.Ser1132Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612667A>TCA379804311OTOGc.6376A>T (p.Ser2126Cys)
c.6340A>T (p.Ser2114Cys)
c.3394A>T (p.Ser1132Cys)
11g.17612668G>ACA379804315OTOGc.6377G>A (p.Ser2126Asn)
c.6341G>A (p.Ser2114Asn)
c.3395G>A (p.Ser1132Asn)
 gnomAD v4
11g.17612668G>CCA379804312OTOGc.6377G>C (p.Ser2126Thr)
c.6341G>C (p.Ser2114Thr)
c.3395G>C (p.Ser1132Thr)
11g.17612668G>TCA379804314OTOGc.6377G>T (p.Ser2126Ile)
c.6341G>T (p.Ser2114Ile)
c.3395G>T (p.Ser1132Ile)
11g.17612668_17612669delinsGCCA1955233071OTOGc.6377_6378delinsGC (p.Ser2126=)
c.6341_6342delinsGC (p.Ser2114=)
c.3395_3396delinsGC (p.Ser1132=)
11g.17612669C>ACA379804317OTOGc.6378C>A (p.Ser2126Arg)
c.6342C>A (p.Ser2114Arg)
c.3396C>A (p.Ser1132Arg)
 dbSNP
11g.17612669C=CA1955233073OTOGc.6378C= (p.Ser2126=)
c.6342C= (p.Ser2114=)
c.3396C= (p.Ser1132=)
11g.17612669C>GCA379804318OTOGc.6378C>G (p.Ser2126Arg)
c.6342C>G (p.Ser2114Arg)
c.3396C>G (p.Ser1132Arg)
11g.17612669C>TCA473305757OTOGc.6378C>T (p.Ser2126=)
c.6342C>T (p.Ser2114=)
c.3396C>T (p.Ser1132=)
 gnomAD v4
11g.17612670delCA1955233072OTOGc.6379del (p.His2127ThrfsTer2)
c.6343del (p.His2115ThrfsTer2)
c.3397del (p.His1133ThrfsTer2)
 dbSNP
11g.17612670C>ACA379804319OTOGc.6379C>A (p.His2127Asn)
c.6343C>A (p.His2115Asn)
c.3397C>A (p.His1133Asn)
11g.17612670C>GCA379804320OTOGc.6379C>G (p.His2127Asp)
c.6343C>G (p.His2115Asp)
c.3397C>G (p.His1133Asp)
11g.17612670C>TCA379804322OTOGc.6379C>T (p.His2127Tyr)
c.6343C>T (p.His2115Tyr)
c.3397C>T (p.His1133Tyr)
 gnomAD v4
11g.17612671_17612677delCA2612686819OTOGc.6380_6386del (p.His2127LeufsTer?)
c.6344_6350del (p.His2115LeufsTer?)
c.3398_3404del (p.His1133LeufsTer?)
 gnomAD v4
11g.17612671A=CA1955233074OTOGc.6380A= (p.His2127=)
c.6344A= (p.His2115=)
c.3398A= (p.His1133=)
11g.17612671A>CCA218478824OTOGc.6380A>C (p.His2127Pro)
c.6344A>C (p.His2115Pro)
c.3398A>C (p.His1133Pro)
 dbSNP
11g.17612671A>GCA379804325OTOGc.6380A>G (p.His2127Arg)
c.6344A>G (p.His2115Arg)
c.3398A>G (p.His1133Arg)
11g.17612671A>TCA379804326OTOGc.6380A>T (p.His2127Leu)
c.6344A>T (p.His2115Leu)
c.3398A>T (p.His1133Leu)
11g.17612672C>ACA379804328OTOGc.6381C>A (p.His2127Gln)
c.6345C>A (p.His2115Gln)
c.3399C>A (p.His1133Gln)
11g.17612672C=CA1955233075OTOGc.6381C= (p.His2127=)
c.6345C= (p.His2115=)
c.3399C= (p.His1133=)
11g.17612672C>GCA379804330OTOGc.6381C>G (p.His2127Gln)
c.6345C>G (p.His2115Gln)
c.3399C>G (p.His1133Gln)
11g.17612672C>TCA473305759OTOGc.6381C>T (p.His2127=)
c.6345C>T (p.His2115=)
c.3399C>T (p.His1133=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612673G>ACA218478825OTOGc.6382G>A (p.Val2128Ile)
c.6346G>A (p.Val2116Ile)
c.3400G>A (p.Val1134Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612673G>CCA379804332OTOGc.6382G>C (p.Val2128Leu)
c.6346G>C (p.Val2116Leu)
c.3400G>C (p.Val1134Leu)
11g.17612673G=CA1955233076OTOGc.6382G= (p.Val2128=)
c.6346G= (p.Val2116=)
c.3400G= (p.Val1134=)
11g.17612673G>TCA379804333OTOGc.6382G>T (p.Val2128Leu)
c.6346G>T (p.Val2116Leu)
c.3400G>T (p.Val1134Leu)
11g.17612674T>ACA379804337OTOGc.6383T>A (p.Val2128Glu)
c.6347T>A (p.Val2116Glu)
c.3401T>A (p.Val1134Glu)
11g.17612674T>CCA379804336OTOGc.6383T>C (p.Val2128Ala)
c.6347T>C (p.Val2116Ala)
c.3401T>C (p.Val1134Ala)
 dbSNP
11g.17612674T>GCA379804334OTOGc.6383T>G (p.Val2128Gly)
c.6347T>G (p.Val2116Gly)
c.3401T>G (p.Val1134Gly)
11g.17612675A>CCA473305763OTOGc.6384A>C (p.Val2128=)
c.6348A>C (p.Val2116=)
c.3402A>C (p.Val1134=)
11g.17612675A>GCA473305764OTOGc.6384A>G (p.Val2128=)
c.6348A>G (p.Val2116=)
c.3402A>G (p.Val1134=)
 gnomAD v4
11g.17612675A>TCA473305765OTOGc.6384A>T (p.Val2128=)
c.6348A>T (p.Val2116=)
c.3402A>T (p.Val1134=)
11g.17612676G>ACA379804339OTOGc.6385G>A (p.Ala2129Thr)
c.6349G>A (p.Ala2117Thr)
c.3403G>A (p.Ala1135Thr)
 dbSNP gnomAD v4
11g.17612676G>CCA379804340OTOGc.6385G>C (p.Ala2129Pro)
c.6349G>C (p.Ala2117Pro)
c.3403G>C (p.Ala1135Pro)
 gnomAD v4
11g.17612676G=CA1955233077OTOGc.6385G= (p.Ala2129=)
c.6349G= (p.Ala2117=)
c.3403G= (p.Ala1135=)
11g.17612676G>TCA379804342OTOGc.6385G>T (p.Ala2129Ser)
c.6349G>T (p.Ala2117Ser)
c.3403G>T (p.Ala1135Ser)
11g.17612677C>ACA379804343OTOGc.6386C>A (p.Ala2129Asp)
c.6350C>A (p.Ala2117Asp)
c.3404C>A (p.Ala1135Asp)
 gnomAD v4
11g.17612677C=CA1955233078OTOGc.6386C= (p.Ala2129=)
c.6350C= (p.Ala2117=)
c.3404C= (p.Ala1135=)
11g.17612677C>GCA379804345OTOGc.6386C>G (p.Ala2129Gly)
c.6350C>G (p.Ala2117Gly)
c.3404C>G (p.Ala1135Gly)
11g.17612677C>TCA218478831OTOGc.6386C>T (p.Ala2129Val)
c.6350C>T (p.Ala2117Val)
c.3404C>T (p.Ala1135Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612678T>ACA473305770OTOGc.6387T>A (p.Ala2129=)
c.6351T>A (p.Ala2117=)
c.3405T>A (p.Ala1135=)
11g.17612678T>CCA473305771OTOGc.6387T>C (p.Ala2129=)
c.6351T>C (p.Ala2117=)
c.3405T>C (p.Ala1135=)
11g.17612678T>GCA473305769OTOGc.6387T>G (p.Ala2129=)
c.6351T>G (p.Ala2117=)
c.3405T>G (p.Ala1135=)
11g.17612679C>ACA379804346OTOGc.6388C>A (p.Leu2130Met)
c.6352C>A (p.Leu2118Met)
c.3406C>A (p.Leu1136Met)
11g.17612679C=CA1955233079OTOGc.6388C= (p.Leu2130=)
c.6352C= (p.Leu2118=)
c.3406C= (p.Leu1136=)
11g.17612679C>GCA379804347OTOGc.6388C>G (p.Leu2130Val)
c.6352C>G (p.Leu2118Val)
c.3406C>G (p.Leu1136Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612679C>TCA473305772OTOGc.6388C>T (p.Leu2130=)
c.6352C>T (p.Leu2118=)
c.3406C>T (p.Leu1136=)
11g.17612680T>ACA379804349OTOGc.6389T>A (p.Leu2130Gln)
c.6353T>A (p.Leu2118Gln)
c.3407T>A (p.Leu1136Gln)
11g.17612680T>CCA379804351OTOGc.6389T>C (p.Leu2130Pro)
c.6353T>C (p.Leu2118Pro)
c.3407T>C (p.Leu1136Pro)
11g.17612680T>GCA379804352OTOGc.6389T>G (p.Leu2130Arg)
c.6353T>G (p.Leu2118Arg)
c.3407T>G (p.Leu1136Arg)
11g.17612681G>ACA473305775OTOGc.6390G>A (p.Leu2130=)
c.6354G>A (p.Leu2118=)
c.3408G>A (p.Leu1136=)
 gnomAD v4
11g.17612681G>CCA218478839OTOGc.6390G>C (p.Leu2130=)
c.6354G>C (p.Leu2118=)
c.3408G>C (p.Leu1136=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612681G=CA1955233080OTOGc.6390G= (p.Leu2130=)
c.6354G= (p.Leu2118=)
c.3408G= (p.Leu1136=)
11g.17612681G>TCA473305774OTOGc.6390G>T (p.Leu2130=)
c.6354G>T (p.Leu2118=)
c.3408G>T (p.Leu1136=)
11g.17612682T>ACA379804353OTOGc.6391T>A (p.Phe2131Ile)
c.6355T>A (p.Phe2119Ile)
c.3409T>A (p.Phe1137Ile)
11g.17612682T>CCA379804354OTOGc.6391T>C (p.Phe2131Leu)
c.6355T>C (p.Phe2119Leu)
c.3409T>C (p.Phe1137Leu)
11g.17612682T>GCA379804356OTOGc.6391T>G (p.Phe2131Val)
c.6355T>G (p.Phe2119Val)
c.3409T>G (p.Phe1137Val)
11g.17612683T>ACA379804358OTOGc.6392T>A (p.Phe2131Tyr)
c.6356T>A (p.Phe2119Tyr)
c.3410T>A (p.Phe1137Tyr)
11g.17612683T>CCA379804359OTOGc.6392T>C (p.Phe2131Ser)
c.6356T>C (p.Phe2119Ser)
c.3410T>C (p.Phe1137Ser)
11g.17612683T>GCA218478848OTOGc.6392T>G (p.Phe2131Cys)
c.6356T>G (p.Phe2119Cys)
c.3410T>G (p.Phe1137Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.17612683T=CA1955233081OTOGc.6392T= (p.Phe2131=)
c.6356T= (p.Phe2119=)
c.3410T= (p.Phe1137=)
11g.17612684C>ACA379804361OTOGc.6393C>A (p.Phe2131Leu)
c.6357C>A (p.Phe2119Leu)
c.3411C>A (p.Phe1137Leu)
11g.17612684C=CA1955233082OTOGc.6393C= (p.Phe2131=)
c.6357C= (p.Phe2119=)
c.3411C= (p.Phe1137=)
11g.17612684C>GCA379804363OTOGc.6393C>G (p.Phe2131Leu)
c.6357C>G (p.Phe2119Leu)
c.3411C>G (p.Phe1137Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.17612684C>TCA473305776OTOGc.6393C>T (p.Phe2131=)
c.6357C>T (p.Phe2119=)
c.3411C>T (p.Phe1137=)
 gnomAD v4
11g.17612685A>CCA379804365OTOGc.6394A>C (p.Lys2132Gln)
c.6358A>C (p.Lys2120Gln)
c.3412A>C (p.Lys1138Gln)
11g.17612685A>GCA379804366OTOGc.6394A>G (p.Lys2132Glu)
c.6358A>G (p.Lys2120Glu)
c.3412A>G (p.Lys1138Glu)
11g.17612685A>TCA379804368OTOGc.6394A>T (p.Lys2132Ter)
c.6358A>T (p.Lys2120Ter)
c.3412A>T (p.Lys1138Ter)
11g.17612686A>CCA379804370OTOGc.6395A>C (p.Lys2132Thr)
c.6359A>C (p.Lys2120Thr)
c.3413A>C (p.Lys1138Thr)
11g.17612686A>GCA379804372OTOGc.6395A>G (p.Lys2132Arg)
c.6359A>G (p.Lys2120Arg)
c.3413A>G (p.Lys1138Arg)
11g.17612686A>TCA379804373OTOGc.6395A>T (p.Lys2132Met)
c.6359A>T (p.Lys2120Met)
c.3413A>T (p.Lys1138Met)
11g.17612687G>ACA218478871OTOGc.6396G>A (p.Lys2132=)
c.6360G>A (p.Lys2120=)
c.3414G>A (p.Lys1138=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612687G>CCA379804374OTOGc.6396G>C (p.Lys2132Asn)
c.6360G>C (p.Lys2120Asn)
c.3414G>C (p.Lys1138Asn)
11g.17612687G=CA1955233083OTOGc.6396G= (p.Lys2132=)
c.6360G= (p.Lys2120=)
c.3414G= (p.Lys1138=)
11g.17612687G>TCA379804376OTOGc.6396G>T (p.Lys2132Asn)
c.6360G>T (p.Lys2120Asn)
c.3414G>T (p.Lys1138Asn)
11g.17612688G>ACA379804378OTOGc.6397G>A (p.Glu2133Lys)
c.6361G>A (p.Glu2121Lys)
c.3415G>A (p.Glu1139Lys)
 gnomAD v4
11g.17612688G>CCA379804380OTOGc.6397G>C (p.Glu2133Gln)
c.6361G>C (p.Glu2121Gln)
c.3415G>C (p.Glu1139Gln)
11g.17612688G>TCA379804381OTOGc.6397G>T (p.Glu2133Ter)
c.6361G>T (p.Glu2121Ter)
c.3415G>T (p.Glu1139Ter)
11g.17612689A>CCA379804385OTOGc.6398A>C (p.Glu2133Ala)
c.6362A>C (p.Glu2121Ala)
c.3416A>C (p.Glu1139Ala)
11g.17612689A>GCA379804382OTOGc.6398A>G (p.Glu2133Gly)
c.6362A>G (p.Glu2121Gly)
c.3416A>G (p.Glu1139Gly)
 gnomAD v4
11g.17612689A>TCA379804384OTOGc.6398A>T (p.Glu2133Val)
c.6362A>T (p.Glu2121Val)
c.3416A>T (p.Glu1139Val)
11g.17612690G>ACA473305778OTOGc.6399G>A (p.Glu2133=)
c.6363G>A (p.Glu2121=)
c.3417G>A (p.Glu1139=)
11g.17612690G>CCA379804386OTOGc.6399G>C (p.Glu2133Asp)
c.6363G>C (p.Glu2121Asp)
c.3417G>C (p.Glu1139Asp)
11g.17612690G>TCA379804387OTOGc.6399G>T (p.Glu2133Asp)
c.6363G>T (p.Glu2121Asp)
c.3417G>T (p.Glu1139Asp)
11g.17612691G>ACA379804388OTOGc.6400G>A (p.Ala2134Thr)
c.6364G>A (p.Ala2122Thr)
c.3418G>A (p.Ala1140Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612691G>CCA379804389OTOGc.6400G>C (p.Ala2134Pro)
c.6364G>C (p.Ala2122Pro)
c.3418G>C (p.Ala1140Pro)
11g.17612691G=CA1955233084OTOGc.6400G= (p.Ala2134=)
c.6364G= (p.Ala2122=)
c.3418G= (p.Ala1140=)
11g.17612691G>TCA379804390OTOGc.6400G>T (p.Ala2134Ser)
c.6364G>T (p.Ala2122Ser)
c.3418G>T (p.Ala1140Ser)
11g.17612692C>ACA379804391OTOGc.6401C>A (p.Ala2134Asp)
c.6365C>A (p.Ala2122Asp)
c.3419C>A (p.Ala1140Asp)
11g.17612692C>GCA379804392OTOGc.6401C>G (p.Ala2134Gly)
c.6365C>G (p.Ala2122Gly)
c.3419C>G (p.Ala1140Gly)
11g.17612692C>TCA379804394OTOGc.6401C>T (p.Ala2134Val)
c.6365C>T (p.Ala2122Val)
c.3419C>T (p.Ala1140Val)
 gnomAD v4
11g.17612693C>ACA473305779OTOGc.6402C>A (p.Ala2134=)
c.6366C>A (p.Ala2122=)
c.3420C>A (p.Ala1140=)
11g.17612693C>GCA473305780OTOGc.6402C>G (p.Ala2134=)
c.6366C>G (p.Ala2122=)
c.3420C>G (p.Ala1140=)
11g.17612693C>TCA473305781OTOGc.6402C>T (p.Ala2134=)
c.6366C>T (p.Ala2122=)
c.3420C>T (p.Ala1140=)
 gnomAD v4
11g.17612694A>CCA379804396OTOGc.6403A>C (p.Ile2135Leu)
c.6367A>C (p.Ile2123Leu)
c.3421A>C (p.Ile1141Leu)
11g.17612694A>GCA379804397OTOGc.6403A>G (p.Ile2135Val)
c.6367A>G (p.Ile2123Val)
c.3421A>G (p.Ile1141Val)
11g.17612694A>TCA379804399OTOGc.6403A>T (p.Ile2135Phe)
c.6367A>T (p.Ile2123Phe)
c.3421A>T (p.Ile1141Phe)
11g.17612695T>ACA379804400OTOGc.6404T>A (p.Ile2135Asn)
c.6368T>A (p.Ile2123Asn)
c.3422T>A (p.Ile1141Asn)
11g.17612695T>CCA379804404OTOGc.6404T>C (p.Ile2135Thr)
c.6368T>C (p.Ile2123Thr)
c.3422T>C (p.Ile1141Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.17612695T>GCA379804402OTOGc.6404T>G (p.Ile2135Ser)
c.6368T>G (p.Ile2123Ser)
c.3422T>G (p.Ile1141Ser)
11g.17612695T=CA1955233085OTOGc.6404T= (p.Ile2135=)
c.6368T= (p.Ile2123=)
c.3422T= (p.Ile1141=)
11g.17612696C>ACA473305782OTOGc.6405C>A (p.Ile2135=)
c.6369C>A (p.Ile2123=)
c.3423C>A (p.Ile1141=)
11g.17612696C>GCA379804406OTOGc.6405C>G (p.Ile2135Met)
c.6369C>G (p.Ile2123Met)
c.3423C>G (p.Ile1141Met)
11g.17612696C>TCA473305783OTOGc.6405C>T (p.Ile2135=)
c.6369C>T (p.Ile2123=)
c.3423C>T (p.Ile1141=)
11g.17612697T>ACA379804412OTOGc.6406T>A (p.Tyr2136Asn)
c.6370T>A (p.Tyr2124Asn)
c.3424T>A (p.Tyr1142Asn)
11g.17612697T>CCA379804413OTOGc.6406T>C (p.Tyr2136His)
c.6370T>C (p.Tyr2124His)
c.3424T>C (p.Tyr1142His)
11g.17612697T>GCA379804415OTOGc.6406T>G (p.Tyr2136Asp)
c.6370T>G (p.Tyr2124Asp)
c.3424T>G (p.Tyr1142Asp)
11g.17612698A=CA1955233086OTOGc.6407A= (p.Tyr2136=)
c.6371A= (p.Tyr2124=)
c.3425A= (p.Tyr1142=)
11g.17612698A>CCA379804417OTOGc.6407A>C (p.Tyr2136Ser)
c.6371A>C (p.Tyr2124Ser)
c.3425A>C (p.Tyr1142Ser)
11g.17612698A>GCA379804419OTOGc.6407A>G (p.Tyr2136Cys)
c.6371A>G (p.Tyr2124Cys)
c.3425A>G (p.Tyr1142Cys)
 dbSNP
11g.17612698A>TCA379804421OTOGc.6407A>T (p.Tyr2136Phe)
c.6371A>T (p.Tyr2124Phe)
c.3425A>T (p.Tyr1142Phe)
11g.17612699C>ACA379804423OTOGc.6408C>A (p.Tyr2136Ter)
c.6372C>A (p.Tyr2124Ter)
c.3426C>A (p.Tyr1142Ter)
11g.17612699C=CA1955233087OTOGc.6408C= (p.Tyr2136=)
c.6372C= (p.Tyr2124=)
c.3426C= (p.Tyr1142=)
11g.17612699C>GCA379804424OTOGc.6408C>G (p.Tyr2136Ter)
c.6372C>G (p.Tyr2124Ter)
c.3426C>G (p.Tyr1142Ter)
11g.17612699C>TCA473305784OTOGc.6408C>T (p.Tyr2136=)
c.6372C>T (p.Tyr2124=)
c.3426C>T (p.Tyr1142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612700A>CCA379804425OTOGc.6409A>C (p.Ile2137Leu)
c.6373A>C (p.Ile2125Leu)
c.3427A>C (p.Ile1143Leu)
11g.17612700A>GCA379804427OTOGc.6409A>G (p.Ile2137Val)
c.6373A>G (p.Ile2125Val)
c.3427A>G (p.Ile1143Val)
11g.17612700A>TCA379804429OTOGc.6409A>T (p.Ile2137Phe)
c.6373A>T (p.Ile2125Phe)
c.3427A>T (p.Ile1143Phe)
11g.17612701T>ACA379804431OTOGc.6410T>A (p.Ile2137Asn)
c.6374T>A (p.Ile2125Asn)
c.3428T>A (p.Ile1143Asn)
11g.17612701T>CCA379804432OTOGc.6410T>C (p.Ile2137Thr)
c.6374T>C (p.Ile2125Thr)
c.3428T>C (p.Ile1143Thr)
11g.17612701T>GCA379804434OTOGc.6410T>G (p.Ile2137Ser)
c.6374T>G (p.Ile2125Ser)
c.3428T>G (p.Ile1143Ser)
11g.17612702C>ACA473305785OTOGc.6411C>A (p.Ile2137=)
c.6375C>A (p.Ile2125=)
c.3429C>A (p.Ile1143=)
11g.17612702C=CA1955233088OTOGc.6411C= (p.Ile2137=)
c.6375C= (p.Ile2125=)
c.3429C= (p.Ile1143=)
11g.17612702C>GCA379804435OTOGc.6411C>G (p.Ile2137Met)
c.6375C>G (p.Ile2125Met)
c.3429C>G (p.Ile1143Met)
11g.17612702C>TCA218478885OTOGc.6411C>T (p.Ile2137=)
c.6375C>T (p.Ile2125=)
c.3429C>T (p.Ile1143=)
 dbSNP gnomAD v3 gnomAD v4
11g.17612703C>ACA379804437OTOGc.6412C>A (p.Leu2138Ile)
c.6376C>A (p.Leu2126Ile)
c.3430C>A (p.Leu1144Ile)
 dbSNP gnomAD v4
11g.17612703C=CA1955233089OTOGc.6412C= (p.Leu2138=)
c.6376C= (p.Leu2126=)
c.3430C= (p.Leu1144=)
11g.17612703C>GCA379804438OTOGc.6412C>G (p.Leu2138Val)
c.6376C>G (p.Leu2126Val)
c.3430C>G (p.Leu1144Val)
11g.17612703C>TCA379804439OTOGc.6412C>T (p.Leu2138Phe)
c.6376C>T (p.Leu2126Phe)
c.3430C>T (p.Leu1144Phe)
11g.17612704T>ACA379804440OTOGc.6413T>A (p.Leu2138His)
c.6377T>A (p.Leu2126His)
c.3431T>A (p.Leu1144His)
11g.17612704T>CCA379804441OTOGc.6413T>C (p.Leu2138Pro)
c.6377T>C (p.Leu2126Pro)
c.3431T>C (p.Leu1144Pro)
11g.17612704T>GCA379804442OTOGc.6413T>G (p.Leu2138Arg)
c.6377T>G (p.Leu2126Arg)
c.3431T>G (p.Leu1144Arg)
11g.17612705C>ACA473305788OTOGc.6414C>A (p.Leu2138=)
c.6378C>A (p.Leu2126=)
c.3432C>A (p.Leu1144=)
11g.17612705C>GCA473305786OTOGc.6414C>G (p.Leu2138=)
c.6378C>G (p.Leu2126=)
c.3432C>G (p.Leu1144=)
11g.17612705C>TCA473305787OTOGc.6414C>T (p.Leu2138=)
c.6378C>T (p.Leu2126=)
c.3432C>T (p.Leu1144=)
11g.17612706A=CA1955233090OTOGc.6415A= (p.Ser2139=)
c.6379A= (p.Ser2127=)
c.3433A= (p.Ser1145=)
11g.17612706A>CCA379804444OTOGc.6415A>C (p.Ser2139Arg)
c.6379A>C (p.Ser2127Arg)
c.3433A>C (p.Ser1145Arg)
11g.17612706A>GCA218478893OTOGc.6415A>G (p.Ser2139Gly)
c.6379A>G (p.Ser2127Gly)
c.3433A>G (p.Ser1145Gly)
 dbSNP gnomAD v4
11g.17612706A>TCA379804447OTOGc.6415A>T (p.Ser2139Cys)
c.6379A>T (p.Ser2127Cys)
c.3433A>T (p.Ser1145Cys)
11g.17612707G>ACA379804448OTOGc.6416G>A (p.Ser2139Asn)
c.6380G>A (p.Ser2127Asn)
c.3434G>A (p.Ser1145Asn)
 gnomAD v4
11g.17612707G>CCA379804449OTOGc.6416G>C (p.Ser2139Thr)
c.6380G>C (p.Ser2127Thr)
c.3434G>C (p.Ser1145Thr)
11g.17612707G>TCA379804450OTOGc.6416G>T (p.Ser2139Ile)
c.6380G>T (p.Ser2127Ile)
c.3434G>T (p.Ser1145Ile)
11g.17612708C>ACA379804451OTOGc.6417C>A (p.Ser2139Arg)
c.6381C>A (p.Ser2127Arg)
c.3435C>A (p.Ser1145Arg)
11g.17612708C>GCA379804452OTOGc.6417C>G (p.Ser2139Arg)
c.6381C>G (p.Ser2127Arg)
c.3435C>G (p.Ser1145Arg)
11g.17612708C>TCA473305789OTOGc.6417C>T (p.Ser2139=)
c.6381C>T (p.Ser2127=)
c.3435C>T (p.Ser1145=)
11g.17612709C>ACA379804453OTOGc.6418C>A (p.Gln2140Lys)
c.6382C>A (p.Gln2128Lys)
c.3436C>A (p.Gln1146Lys)
11g.17612709C=CA1955233091OTOGc.6418C= (p.Gln2140=)
c.6382C= (p.Gln2128=)
c.3436C= (p.Gln1146=)
11g.17612709C>GCA379804455OTOGc.6418C>G (p.Gln2140Glu)
c.6382C>G (p.Gln2128Glu)
c.3436C>G (p.Gln1146Glu)
11g.17612709C>TCA379804454OTOGc.6418C>T (p.Gln2140Ter)
c.6382C>T (p.Gln2128Ter)
c.3436C>T (p.Gln1146Ter)
 dbSNP
11g.17612710A>CCA379804456OTOGc.6419A>C (p.Gln2140Pro)
c.6383A>C (p.Gln2128Pro)
c.3437A>C (p.Gln1146Pro)
 gnomAD v4
11g.17612710A>GCA379804457OTOGc.6419A>G (p.Gln2140Arg)
c.6383A>G (p.Gln2128Arg)
c.3437A>G (p.Gln1146Arg)
 gnomAD v4
11g.17612710A>TCA379804458OTOGc.6419A>T (p.Gln2140Leu)
c.6383A>T (p.Gln2128Leu)
c.3437A>T (p.Gln1146Leu)
11g.17612711G>ACA473305790OTOGc.6420G>A (p.Gln2140=)
c.6384G>A (p.Gln2128=)
c.3438G>A (p.Gln1146=)
11g.17612711G>CCA379804459OTOGc.6420G>C (p.Gln2140His)
c.6384G>C (p.Gln2128His)
c.3438G>C (p.Gln1146His)
11g.17612711G>TCA379804460OTOGc.6420G>T (p.Gln2140His)
c.6384G>T (p.Gln2128His)
c.3438G>T (p.Gln1146His)
11g.17612712A>CCA379804461OTOGc.6421A>C (p.Ser2141Arg)
c.6385A>C (p.Ser2129Arg)
c.3439A>C (p.Ser1147Arg)
11g.17612712A>GCA379804462OTOGc.6421A>G (p.Ser2141Gly)
c.6385A>G (p.Ser2129Gly)
c.3439A>G (p.Ser1147Gly)
 gnomAD v4
11g.17612712A>TCA379804463OTOGc.6421A>T (p.Ser2141Cys)
c.6385A>T (p.Ser2129Cys)
c.3439A>T (p.Ser1147Cys)
11g.17612713G>ACA218478901OTOGc.6422G>A (p.Ser2141Asn)
c.6386G>A (p.Ser2129Asn)
c.3440G>A (p.Ser1147Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.17612713G>CCA379804464OTOGc.6422G>C (p.Ser2141Thr)
c.6386G>C (p.Ser2129Thr)
c.3440G>C (p.Ser1147Thr)
11g.17612713G=CA1955233092OTOGc.6422G= (p.Ser2141=)
c.6386G= (p.Ser2129=)
c.3440G= (p.Ser1147=)
11g.17612713G>TCA379804465OTOGc.6422G>T (p.Ser2141Ile)
c.6386G>T (p.Ser2129Ile)
c.3440G>T (p.Ser1147Ile)
11g.17612714C>ACA379804466OTOGc.6423C>A (p.Ser2141Arg)
c.6387C>A (p.Ser2129Arg)
c.3441C>A (p.Ser1147Arg)
 gnomAD v4
11g.17612714C>GCA379804467OTOGc.6423C>G (p.Ser2141Arg)
c.6387C>G (p.Ser2129Arg)
c.3441C>G (p.Ser1147Arg)
 gnomAD v4
11g.17612714C>TCA473305791OTOGc.6423C>T (p.Ser2141=)
c.6387C>T (p.Ser2129=)
c.3441C>T (p.Ser1147=)
11g.17612715C>ACA379804470OTOGc.6424C>A (p.Pro2142Thr)
c.6388C>A (p.Pro2130Thr)
c.3442C>A (p.Pro1148Thr)
11g.17612715C>GCA379804468OTOGc.6424C>G (p.Pro2142Ala)
c.6388C>G (p.Pro2130Ala)
c.3442C>G (p.Pro1148Ala)
11g.17612715C>TCA379804469OTOGc.6424C>T (p.Pro2142Ser)
c.6388C>T (p.Pro2130Ser)
c.3442C>T (p.Pro1148Ser)
11g.17612716C>ACA379804471OTOGc.6425C>A (p.Pro2142Gln)
c.6389C>A (p.Pro2130Gln)
c.3443C>A (p.Pro1148Gln)
11g.17612716C>GCA379804472OTOGc.6425C>G (p.Pro2142Arg)
c.6389C>G (p.Pro2130Arg)
c.3443C>G (p.Pro1148Arg)
11g.17612716C>TCA379804473OTOGc.6425C>T (p.Pro2142Leu)
c.6389C>T (p.Pro2130Leu)
c.3443C>T (p.Pro1148Leu)
11g.17612717A>CCA473305792OTOGc.6426A>C (p.Pro2142=)
c.6390A>C (p.Pro2130=)
c.3444A>C (p.Pro1148=)
11g.17612717A>GCA473305793OTOGc.6426A>G (p.Pro2142=)
c.6390A>G (p.Pro2130=)
c.3444A>G (p.Pro1148=)
11g.17612717A>TCA473305794OTOGc.6426A>T (p.Pro2142=)
c.6390A>T (p.Pro2130=)
c.3444A>T (p.Pro1148=)
11g.17612718G>ACA379804474OTOGc.6427G>A (p.Asp2143Asn)
c.6391G>A (p.Asp2131Asn)
c.3445G>A (p.Asp1149Asn)
 dbSNP gnomAD v4
11g.17612718G>CCA379804475OTOGc.6427G>C (p.Asp2143His)
c.6391G>C (p.Asp2131His)
c.3445G>C (p.Asp1149His)
11g.17612718G=CA1955233093OTOGc.6427G= (p.Asp2143=)
c.6391G= (p.Asp2131=)
c.3445G= (p.Asp1149=)
11g.17612718G>TCA379804476OTOGc.6427G>T (p.Asp2143Tyr)
c.6391G>T (p.Asp2131Tyr)
c.3445G>T (p.Asp1149Tyr)
11g.17612719A=CA1955233094OTOGc.6428A= (p.Asp2143=)
c.6392A= (p.Asp2131=)
c.3446A= (p.Asp1149=)
11g.17612719A>CCA379804477OTOGc.6428A>C (p.Asp2143Ala)
c.6392A>C (p.Asp2131Ala)
c.3446A>C (p.Asp1149Ala)
11g.17612719A>GCA379804478OTOGc.6428A>G (p.Asp2143Gly)
c.6392A>G (p.Asp2131Gly)
c.3446A>G (p.Asp1149Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612719A>TCA379804479OTOGc.6428A>T (p.Asp2143Val)
c.6392A>T (p.Asp2131Val)
c.3446A>T (p.Asp1149Val)
11g.17612720T>ACA379804480OTOGc.6429T>A (p.Asp2143Glu)
c.6393T>A (p.Asp2131Glu)
c.3447T>A (p.Asp1149Glu)
11g.17612720T>CCA473305795OTOGc.6429T>C (p.Asp2143=)
c.6393T>C (p.Asp2131=)
c.3447T>C (p.Asp1149=)
 dbSNP gnomAD v3 gnomAD v4
11g.17612720T>GCA379804481OTOGc.6429T>G (p.Asp2143Glu)
c.6393T>G (p.Asp2131Glu)
c.3447T>G (p.Asp1149Glu)
 gnomAD v4
11g.17612720T=CA1955233095OTOGc.6429T= (p.Asp2143=)
c.6393T= (p.Asp2131=)
c.3447T= (p.Asp1149=)
11g.17612721G>ACA218478911OTOGc.6430G>A (p.Glu2144Lys)
c.6394G>A (p.Glu2132Lys)
c.3448G>A (p.Glu1150Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612721G>CCA379804483OTOGc.6430G>C (p.Glu2144Gln)
c.6394G>C (p.Glu2132Gln)
c.3448G>C (p.Glu1150Gln)
11g.17612721G=CA1955233096OTOGc.6430G= (p.Glu2144=)
c.6394G= (p.Glu2132=)
c.3448G= (p.Glu1150=)
11g.17612721G>TCA379804482OTOGc.6430G>T (p.Glu2144Ter)
c.6394G>T (p.Glu2132Ter)
c.3448G>T (p.Glu1150Ter)
11g.17612722A>CCA379804484OTOGc.6431A>C (p.Glu2144Ala)
c.6395A>C (p.Glu2132Ala)
c.3449A>C (p.Glu1150Ala)
11g.17612722A>GCA379804486OTOGc.6431A>G (p.Glu2144Gly)
c.6395A>G (p.Glu2132Gly)
c.3449A>G (p.Glu1150Gly)
 COSMIC
11g.17612722A>TCA379804485OTOGc.6431A>T (p.Glu2144Val)
c.6395A>T (p.Glu2132Val)
c.3449A>T (p.Glu1150Val)
11g.17612723A>CCA379804487OTOGc.6432A>C (p.Glu2144Asp)
c.6396A>C (p.Glu2132Asp)
c.3450A>C (p.Glu1150Asp)
11g.17612723A>GCA473305796OTOGc.6432A>G (p.Glu2144=)
c.6396A>G (p.Glu2132=)
c.3450A>G (p.Glu1150=)
11g.17612723A>TCA379804488OTOGc.6432A>T (p.Glu2144Asp)
c.6396A>T (p.Glu2132Asp)
c.3450A>T (p.Glu1150Asp)
11g.17612724A>CCA379804489OTOGc.6433A>C (p.Met2145Leu)
c.6397A>C (p.Met2133Leu)
c.3451A>C (p.Met1151Leu)
11g.17612724A>GCA379804490OTOGc.6433A>G (p.Met2145Val)
c.6397A>G (p.Met2133Val)
c.3451A>G (p.Met1151Val)
11g.17612724A>TCA379804491OTOGc.6433A>T (p.Met2145Leu)
c.6397A>T (p.Met2133Leu)
c.3451A>T (p.Met1151Leu)
11g.17612725T>ACA379804493OTOGc.6434T>A (p.Met2145Lys)
c.6398T>A (p.Met2133Lys)
c.3452T>A (p.Met1151Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.17612725T>CCA379804495OTOGc.6434T>C (p.Met2145Thr)
c.6398T>C (p.Met2133Thr)
c.3452T>C (p.Met1151Thr)
11g.17612725T>GCA379804499OTOGc.6434T>G (p.Met2145Arg)
c.6398T>G (p.Met2133Arg)
c.3452T>G (p.Met1151Arg)
11g.17612725T=CA1955233097OTOGc.6434T= (p.Met2145=)
c.6398T= (p.Met2133=)
c.3452T= (p.Met1151=)
11g.17612726G>ACA379804500OTOGc.6435G>A (p.Met2145Ile)
c.6399G>A (p.Met2133Ile)
c.3453G>A (p.Met1151Ile)
 dbSNP gnomAD v4
11g.17612726G>CCA379804502OTOGc.6435G>C (p.Met2145Ile)
c.6399G>C (p.Met2133Ile)
c.3453G>C (p.Met1151Ile)
11g.17612726G=CA1955233098OTOGc.6435G= (p.Met2145=)
c.6399G= (p.Met2133=)
c.3453G= (p.Met1151=)
11g.17612726G>TCA379804503OTOGc.6435G>T (p.Met2145Ile)
c.6399G>T (p.Met2133Ile)
c.3453G>T (p.Met1151Ile)
11g.17612727C>ACA379804508OTOGc.6436C>A (p.Leu2146Ile)
c.6400C>A (p.Leu2134Ile)
c.3454C>A (p.Leu1152Ile)
11g.17612727C>GCA379804505OTOGc.6436C>G (p.Leu2146Val)
c.6400C>G (p.Leu2134Val)
c.3454C>G (p.Leu1152Val)
 dbSNP
11g.17612727C>TCA379804506OTOGc.6436C>T (p.Leu2146Phe)
c.6400C>T (p.Leu2134Phe)
c.3454C>T (p.Leu1152Phe)
 gnomAD v4
11g.17612728T>ACA379804509OTOGc.6437T>A (p.Leu2146His)
c.6401T>A (p.Leu2134His)
c.3455T>A (p.Leu1152His)
11g.17612728T>CCA379804510OTOGc.6437T>C (p.Leu2146Pro)
c.6401T>C (p.Leu2134Pro)
c.3455T>C (p.Leu1152Pro)
11g.17612728T>GCA379804511OTOGc.6437T>G (p.Leu2146Arg)
c.6401T>G (p.Leu2134Arg)
c.3455T>G (p.Leu1152Arg)
11g.17612729C>ACA473305797OTOGc.6438C>A (p.Leu2146=)
c.6402C>A (p.Leu2134=)
c.3456C>A (p.Leu1152=)
 gnomAD v4
11g.17612729C=CA1955233099OTOGc.6438C= (p.Leu2146=)
c.6402C= (p.Leu2134=)
c.3456C= (p.Leu1152=)
11g.17612729C>GCA473305798OTOGc.6438C>G (p.Leu2146=)
c.6402C>G (p.Leu2134=)
c.3456C>G (p.Leu1152=)
11g.17612729C>TCA473305799OTOGc.6438C>T (p.Leu2146=)
c.6402C>T (p.Leu2134=)
c.3456C>T (p.Leu1152=)
 dbSNP gnomAD v4
11g.17612730A=CA1955233100OTOGc.6439A= (p.Thr2147=)
c.6403A= (p.Thr2135=)
c.3457A= (p.Thr1153=)
11g.17612730A>CCA379804513OTOGc.6439A>C (p.Thr2147Pro)
c.6403A>C (p.Thr2135Pro)
c.3457A>C (p.Thr1153Pro)
11g.17612730A>GCA379804515OTOGc.6439A>G (p.Thr2147Ala)
c.6403A>G (p.Thr2135Ala)
c.3457A>G (p.Thr1153Ala)
 dbSNP gnomAD v4
11g.17612730A>TCA379804516OTOGc.6439A>T (p.Thr2147Ser)
c.6403A>T (p.Thr2135Ser)
c.3457A>T (p.Thr1153Ser)
11g.17612731C>ACA379804518OTOGc.6440C>A (p.Thr2147Asn)
c.6404C>A (p.Thr2135Asn)
c.3458C>A (p.Thr1153Asn)
11g.17612731C=CA1955233101OTOGc.6440C= (p.Thr2147=)
c.6404C= (p.Thr2135=)
c.3458C= (p.Thr1153=)
11g.17612731C>GCA379804520OTOGc.6440C>G (p.Thr2147Ser)
c.6404C>G (p.Thr2135Ser)
c.3458C>G (p.Thr1153Ser)
11g.17612731C>TCA379804522OTOGc.6440C>T (p.Thr2147Ile)
c.6404C>T (p.Thr2135Ile)
c.3458C>T (p.Thr1153Ile)
 dbSNP
11g.17612732C>ACA473305800OTOGc.6441C>A (p.Thr2147=)
c.6405C>A (p.Thr2135=)
c.3459C>A (p.Thr1153=)
 gnomAD v4
11g.17612732C=CA1955233102OTOGc.6441C= (p.Thr2147=)
c.6405C= (p.Thr2135=)
c.3459C= (p.Thr1153=)
11g.17612732C>GCA473305801OTOGc.6441C>G (p.Thr2147=)
c.6405C>G (p.Thr2135=)
c.3459C>G (p.Thr1153=)
11g.17612732C>TCA5906024OTOGc.6441C>T (p.Thr2147=)
c.6405C>T (p.Thr2135=)
c.3459C>T (p.Thr1153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17612733G>ACA379804526OTOGc.6442G>A (p.Val2148Ile)
c.6406G>A (p.Val2136Ile)
c.3460G>A (p.Val1154Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17612733G>CCA379804528OTOGc.6442G>C (p.Val2148Leu)
c.6406G>C (p.Val2136Leu)
c.3460G>C (p.Val1154Leu)
11g.17612733G=CA1955233103OTOGc.6442G= (p.Val2148=)
c.6406G= (p.Val2136=)
c.3460G= (p.Val1154=)
11g.17612733G>TCA379804524OTOGc.6442G>T (p.Val2148Phe)
c.6406G>T (p.Val2136Phe)
c.3460G>T (p.Val1154Phe)
 gnomAD v3 gnomAD v4
11g.17612734T>ACA379804530OTOGc.6443T>A (p.Val2148Asp)
c.6407T>A (p.Val2136Asp)
c.3461T>A (p.Val1154Asp)
 gnomAD v4
11g.17612734T>CCA379804532OTOGc.6443T>C (p.Val2148Ala)
c.6407T>C (p.Val2136Ala)
c.3461T>C (p.Val1154Ala)
 dbSNP gnomAD v4
11g.17612734T>GCA379804533OTOGc.6443T>G (p.Val2148Gly)
c.6407T>G (p.Val2136Gly)
c.3461T>G (p.Val1154Gly)
11g.17612734T=CA1955233104OTOGc.6443T= (p.Val2148=)
c.6407T= (p.Val2136=)
c.3461T= (p.Val1154=)
11g.17612735C>ACA218478920OTOGc.6444C>A (p.Val2148=)
c.6408C>A (p.Val2136=)
c.3462C>A (p.Val1154=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612735C=CA1955233105OTOGc.6444C= (p.Val2148=)
c.6408C= (p.Val2136=)
c.3462C= (p.Val1154=)
11g.17612735C>GCA473305802OTOGc.6444C>G (p.Val2148=)
c.6408C>G (p.Val2136=)
c.3462C>G (p.Val1154=)
11g.17612735C>TCA473305803OTOGc.6444C>T (p.Val2148=)
c.6408C>T (p.Val2136=)
c.3462C>T (p.Val1154=)
11g.17612736C>ACA379804535OTOGc.6445C>A (p.His2149Asn)
c.6409C>A (p.His2137Asn)
c.3463C>A (p.His1155Asn)
11g.17612736C=CA1955233106OTOGc.6445C= (p.His2149=)
c.6409C= (p.His2137=)
c.3463C= (p.His1155=)
11g.17612736C>GCA379804536OTOGc.6445C>G (p.His2149Asp)
c.6409C>G (p.His2137Asp)
c.3463C>G (p.His1155Asp)
11g.17612736C>TCA379804538OTOGc.6445C>T (p.His2149Tyr)
c.6409C>T (p.His2137Tyr)
c.3463C>T (p.His1155Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612737A>CCA379804540OTOGc.6446A>C (p.His2149Pro)
c.6410A>C (p.His2137Pro)
c.3464A>C (p.His1155Pro)
11g.17612737A>GCA379804541OTOGc.6446A>G (p.His2149Arg)
c.6410A>G (p.His2137Arg)
c.3464A>G (p.His1155Arg)
 gnomAD v4
11g.17612737A>TCA379804542OTOGc.6446A>T (p.His2149Leu)
c.6410A>T (p.His2137Leu)
c.3464A>T (p.His1155Leu)
11g.17612738T>ACA379804544OTOGc.6447T>A (p.His2149Gln)
c.6411T>A (p.His2137Gln)
c.3465T>A (p.His1155Gln)
 gnomAD v4
11g.17612738T>CCA473305804OTOGc.6447T>C (p.His2149=)
c.6411T>C (p.His2137=)
c.3465T>C (p.His1155=)
11g.17612738T>GCA5906025OTOGc.6447T>G (p.His2149Gln)
c.6411T>G (p.His2137Gln)
c.3465T>G (p.His1155Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17612738T=CA1955233107OTOGc.6447T= (p.His2149=)
c.6411T= (p.His2137=)
c.3465T= (p.His1155=)
11g.17612739G>ACA5906026OTOGc.6448G>A (p.Val2150Ile)
c.6412G>A (p.Val2138Ile)
c.3466G>A (p.Val1156Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17612739G>CCA379804550OTOGc.6448G>C (p.Val2150Leu)
c.6412G>C (p.Val2138Leu)
c.3466G>C (p.Val1156Leu)
11g.17612739G=CA1955233108OTOGc.6448G= (p.Val2150=)
c.6412G= (p.Val2138=)
c.3466G= (p.Val1156=)
11g.17612739G>TCA379804547OTOGc.6448G>T (p.Val2150Leu)
c.6412G>T (p.Val2138Leu)
c.3466G>T (p.Val1156Leu)
11g.17612740T>ACA379804551OTOGc.6449T>A (p.Val2150Glu)
c.6413T>A (p.Val2138Glu)
c.3467T>A (p.Val1156Glu)
11g.17612740T>CCA379804553OTOGc.6449T>C (p.Val2150Ala)
c.6413T>C (p.Val2138Ala)
c.3467T>C (p.Val1156Ala)
 gnomAD v4
11g.17612740T>GCA379804554OTOGc.6449T>G (p.Val2150Gly)
c.6413T>G (p.Val2138Gly)
c.3467T>G (p.Val1156Gly)
11g.17612741A>CCA473305805OTOGc.6450A>C (p.Val2150=)
c.6414A>C (p.Val2138=)
c.3468A>C (p.Val1156=)
11g.17612741A>GCA473305806OTOGc.6450A>G (p.Val2150=)
c.6414A>G (p.Val2138=)
c.3468A>G (p.Val1156=)
11g.17612741A>TCA473305807OTOGc.6450A>T (p.Val2150=)
c.6414A>T (p.Val2138=)
c.3468A>T (p.Val1156=)
11g.17612742C>ACA379804555OTOGc.6451C>A (p.Leu2151Met)
c.6415C>A (p.Leu2139Met)
c.3469C>A (p.Leu1157Met)
11g.17612742C>GCA379804556OTOGc.6451C>G (p.Leu2151Val)
c.6415C>G (p.Leu2139Val)
c.3469C>G (p.Leu1157Val)
11g.17612742C>TCA473305808OTOGc.6451C>T (p.Leu2151=)
c.6415C>T (p.Leu2139=)
c.3469C>T (p.Leu1157=)
11g.17612743T>ACA379804560OTOGc.6452T>A (p.Leu2151Gln)
c.6416T>A (p.Leu2139Gln)
c.3470T>A (p.Leu1157Gln)
11g.17612743T>CCA379804557OTOGc.6452T>C (p.Leu2151Pro)
c.6416T>C (p.Leu2139Pro)
c.3470T>C (p.Leu1157Pro)
 gnomAD v4
11g.17612743T>GCA379804558OTOGc.6452T>G (p.Leu2151Arg)
c.6416T>G (p.Leu2139Arg)
c.3470T>G (p.Leu1157Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.17612743T=CA1955233109OTOGc.6452T= (p.Leu2151=)
c.6416T= (p.Leu2139=)
c.3470T= (p.Leu1157=)
11g.17612744G>ACA473305809OTOGc.6453G>A (p.Leu2151=)
c.6417G>A (p.Leu2139=)
c.3471G>A (p.Leu1157=)
 dbSNP gnomAD v2 gnomAD v4
11g.17612744G>CCA473305811OTOGc.6453G>C (p.Leu2151=)
c.6417G>C (p.Leu2139=)
c.3471G>C (p.Leu1157=)
11g.17612744G=CA1955233110OTOGc.6453G= (p.Leu2151=)
c.6417G= (p.Leu2139=)
c.3471G= (p.Leu1157=)
11g.17612744G>TCA473305810OTOGc.6453G>T (p.Leu2151=)
c.6417G>T (p.Leu2139=)
c.3471G>T (p.Leu1157=)
11g.17612745G>ACA379804561OTOGc.6454G>A (p.Asp2152Asn)
c.6418G>A (p.Asp2140Asn)
c.3472G>A (p.Asp1158Asn)
11g.17612745G>CCA379804563OTOGc.6454G>C (p.Asp2152His)
c.6418G>C (p.Asp2140His)
c.3472G>C (p.Asp1158His)
11g.17612745G>TCA379804564OTOGc.6454G>T (p.Asp2152Tyr)
c.6418G>T (p.Asp2140Tyr)
c.3472G>T (p.Asp1158Tyr)
11g.17612746A=CA1955233111OTOGc.6455A= (p.Asp2152=)
c.6419A= (p.Asp2140=)
c.3473A= (p.Asp1158=)
11g.17612746A>CCA218478953OTOGc.6455A>C (p.Asp2152Ala)
c.6419A>C (p.Asp2140Ala)
c.3473A>C (p.Asp1158Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612746A>GCA379804565OTOGc.6455A>G (p.Asp2152Gly)
c.6419A>G (p.Asp2140Gly)
c.3473A>G (p.Asp1158Gly)
11g.17612746A>TCA379804567OTOGc.6455A>T (p.Asp2152Val)
c.6419A>T (p.Asp2140Val)
c.3473A>T (p.Asp1158Val)
11g.17612747C>ACA379804570OTOGc.6456C>A (p.Asp2152Glu)
c.6420C>A (p.Asp2140Glu)
c.3474C>A (p.Asp1158Glu)
11g.17612747C=CA1955233112OTOGc.6456C= (p.Asp2152=)
c.6420C= (p.Asp2140=)
c.3474C= (p.Asp1158=)
11g.17612747C>GCA218478958OTOGc.6456C>G (p.Asp2152Glu)
c.6420C>G (p.Asp2140Glu)
c.3474C>G (p.Asp1158Glu)
 dbSNP gnomAD v4
11g.17612747C>TCA473305812OTOGc.6456C>T (p.Asp2152=)
c.6420C>T (p.Asp2140=)
c.3474C>T (p.Asp1158=)
11g.17612748T>ACA379804572OTOGc.6457T>A (p.Cys2153Ser)
c.6421T>A (p.Cys2141Ser)
c.3475T>A (p.Cys1159Ser)
 gnomAD v4
11g.17612748T>CCA379804575OTOGc.6457T>C (p.Cys2153Arg)
c.6421T>C (p.Cys2141Arg)
c.3475T>C (p.Cys1159Arg)
 gnomAD v4
11g.17612748T>GCA379804573OTOGc.6457T>G (p.Cys2153Gly)
c.6421T>G (p.Cys2141Gly)
c.3475T>G (p.Cys1159Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.17612748T=CA1955233113OTOGc.6457T= (p.Cys2153=)
c.6421T= (p.Cys2141=)
c.3475T= (p.Cys1159=)
11g.17612749G>ACA379804576OTOGc.6458G>A (p.Cys2153Tyr)
c.6422G>A (p.Cys2141Tyr)
c.3476G>A (p.Cys1159Tyr)
11g.17612749G>CCA379804579OTOGc.6458G>C (p.Cys2153Ser)
c.6422G>C (p.Cys2141Ser)
c.3476G>C (p.Cys1159Ser)
11g.17612749G>TCA379804578OTOGc.6458G>T (p.Cys2153Phe)
c.6422G>T (p.Cys2141Phe)
c.3476G>T (p.Cys1159Phe)
11g.17612750C>ACA379804580OTOGc.6459C>A (p.Cys2153Ter)
c.6423C>A (p.Cys2141Ter)
c.3477C>A (p.Cys1159Ter)
11g.17612750C>GCA379804581OTOGc.6459C>G (p.Cys2153Trp)
c.6423C>G (p.Cys2141Trp)
c.3477C>G (p.Cys1159Trp)
11g.17612750C>TCA473305813OTOGc.6459C>T (p.Cys2153=)
c.6423C>T (p.Cys2141=)
c.3477C>T (p.Cys1159=)
11g.17612751A>CCA379804582OTOGc.6460A>C (p.Lys2154Gln)
c.6424A>C (p.Lys2142Gln)
c.3478A>C (p.Lys1160Gln)
11g.17612751A>GCA379804583OTOGc.6460A>G (p.Lys2154Glu)
c.6424A>G (p.Lys2142Glu)
c.3478A>G (p.Lys1160Glu)
 ClinVar
11g.17612751A>TCA379804584OTOGc.6460A>T (p.Lys2154Ter)
c.6424A>T (p.Lys2142Ter)
c.3478A>T (p.Lys1160Ter)
11g.17612752A=CA1955233114OTOGc.6461A= (p.Lys2154=)
c.6425A= (p.Lys2142=)
c.3479A= (p.Lys1160=)
11g.17612752A>CCA379804585OTOGc.6461A>C (p.Lys2154Thr)
c.6425A>C (p.Lys2142Thr)
c.3479A>C (p.Lys1160Thr)
11g.17612752A>GCA218478964OTOGc.6461A>G (p.Lys2154Arg)
c.6425A>G (p.Lys2142Arg)
c.3479A>G (p.Lys1160Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612752A>TCA379804586OTOGc.6461A>T (p.Lys2154Ile)
c.6425A>T (p.Lys2142Ile)
c.3479A>T (p.Lys1160Ile)
11g.17612753A>CCA379804589OTOGc.6462A>C (p.Lys2154Asn)
c.6426A>C (p.Lys2142Asn)
c.3480A>C (p.Lys1160Asn)
11g.17612753A>GCA473305814OTOGc.6462A>G (p.Lys2154=)
c.6426A>G (p.Lys2142=)
c.3480A>G (p.Lys1160=)
11g.17612753A>TCA379804590OTOGc.6462A>T (p.Lys2154Asn)
c.6426A>T (p.Lys2142Asn)
c.3480A>T (p.Lys1160Asn)
11g.17612754A>CCA379804592OTOGc.6463A>C (p.Ser2155Arg)
c.6427A>C (p.Ser2143Arg)
c.3481A>C (p.Ser1161Arg)
11g.17612754A>GCA379804593OTOGc.6463A>G (p.Ser2155Gly)
c.6427A>G (p.Ser2143Gly)
c.3481A>G (p.Ser1161Gly)
11g.17612754A>TCA379804595OTOGc.6463A>T (p.Ser2155Cys)
c.6427A>T (p.Ser2143Cys)
c.3481A>T (p.Ser1161Cys)
11g.17612755delCA2612686947OTOGc.6464del (p.Ser2155MetfsTer7)
c.6428del (p.Ser2143MetfsTer7)
c.3482del (p.Ser1161MetfsTer7)
 gnomAD v4
11g.17612755G>ACA379804601OTOGc.6464G>A (p.Ser2155Asn)
c.6428G>A (p.Ser2143Asn)
c.3482G>A (p.Ser1161Asn)
 gnomAD v4
11g.17612755G>CCA379804597OTOGc.6464G>C (p.Ser2155Thr)
c.6428G>C (p.Ser2143Thr)
c.3482G>C (p.Ser1161Thr)
 dbSNP gnomAD v4
11g.17612755G=CA1955233115OTOGc.6464G= (p.Ser2155=)
c.6428G= (p.Ser2143=)
c.3482G= (p.Ser1161=)
11g.17612755G>TCA379804599OTOGc.6464G>T (p.Ser2155Ile)
c.6428G>T (p.Ser2143Ile)
c.3482G>T (p.Ser1161Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.17612756T>ACA379804602OTOGc.6465T>A (p.Ser2155Arg)
c.6429T>A (p.Ser2143Arg)
c.3483T>A (p.Ser1161Arg)
11g.17612756T>CCA473305815OTOGc.6465T>C (p.Ser2155=)
c.6429T>C (p.Ser2143=)
c.3483T>C (p.Ser1161=)
11g.17612756T>GCA379804603OTOGc.6465T>G (p.Ser2155Arg)
c.6429T>G (p.Ser2143Arg)
c.3483T>G (p.Ser1161Arg)
 gnomAD v4
11g.17612757G>ACA379804605OTOGc.6466G>A (p.Ala2156Thr)
c.6430G>A (p.Ala2144Thr)
c.3484G>A (p.Ala1162Thr)
11g.17612757G>CCA379804607OTOGc.6466G>C (p.Ala2156Pro)
c.6430G>C (p.Ala2144Pro)
c.3484G>C (p.Ala1162Pro)
11g.17612757G>TCA379804609OTOGc.6466G>T (p.Ala2156Ser)
c.6430G>T (p.Ala2144Ser)
c.3484G>T (p.Ala1162Ser)
11g.17612758C>ACA379804610OTOGc.6467C>A (p.Ala2156Asp)
c.6431C>A (p.Ala2144Asp)
c.3485C>A (p.Ala1162Asp)
11g.17612758C>GCA379804612OTOGc.6467C>G (p.Ala2156Gly)
c.6431C>G (p.Ala2144Gly)
c.3485C>G (p.Ala1162Gly)
11g.17612758C>TCA379804613OTOGc.6467C>T (p.Ala2156Val)
c.6431C>T (p.Ala2144Val)
c.3485C>T (p.Ala1162Val)
 gnomAD v4
11g.17612759C>ACA473305816OTOGc.6468C>A (p.Ala2156=)
c.6432C>A (p.Ala2144=)
c.3486C>A (p.Ala1162=)
11g.17612759C>GCA473305817OTOGc.6468C>G (p.Ala2156=)
c.6432C>G (p.Ala2144=)
c.3486C>G (p.Ala1162=)
11g.17612759C>TCA473305818OTOGc.6468C>T (p.Ala2156=)
c.6432C>T (p.Ala2144=)
c.3486C>T (p.Ala1162=)
11g.17612760A>CCA379804616OTOGc.6469A>C (p.Asn2157His)
c.6433A>C (p.Asn2145His)
c.3487A>C (p.Asn1163His)
 gnomAD v4
11g.17612760A>GCA379804617OTOGc.6469A>G (p.Asn2157Asp)
c.6433A>G (p.Asn2145Asp)
c.3487A>G (p.Asn1163Asp)
11g.17612760A>TCA379804619OTOGc.6469A>T (p.Asn2157Tyr)
c.6433A>T (p.Asn2145Tyr)
c.3487A>T (p.Asn1163Tyr)
11g.17612761A=CA1955233116OTOGc.6470A= (p.Asn2157=)
c.6434A= (p.Asn2145=)
c.3488A= (p.Asn1163=)
11g.17612761A>CCA379804622OTOGc.6470A>C (p.Asn2157Thr)
c.6434A>C (p.Asn2145Thr)
c.3488A>C (p.Asn1163Thr)
11g.17612761A>GCA379804623OTOGc.6470A>G (p.Asn2157Ser)
c.6434A>G (p.Asn2145Ser)
c.3488A>G (p.Asn1163Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.17612761A>TCA379804621OTOGc.6470A>T (p.Asn2157Ile)
c.6434A>T (p.Asn2145Ile)
c.3488A>T (p.Asn1163Ile)
11g.17612762C>ACA379804625OTOGc.6471C>A (p.Asn2157Lys)
c.6435C>A (p.Asn2145Lys)
c.3489C>A (p.Asn1163Lys)
11g.17612762C>GCA379804627OTOGc.6471C>G (p.Asn2157Lys)
c.6435C>G (p.Asn2145Lys)
c.3489C>G (p.Asn1163Lys)
11g.17612762C>TCA473305819OTOGc.6471C>T (p.Asn2157=)
c.6435C>T (p.Asn2145=)
c.3489C>T (p.Asn1163=)
11g.17612763C>ACA379804629OTOGc.6472C>A (p.Leu2158Met)
c.6436C>A (p.Leu2146Met)
c.3490C>A (p.Leu1164Met)
11g.17612763C=CA1955233117OTOGc.6472C= (p.Leu2158=)
c.6436C= (p.Leu2146=)
c.3490C= (p.Leu1164=)
11g.17612763C>GCA379804630OTOGc.6472C>G (p.Leu2158Val)
c.6436C>G (p.Leu2146Val)
c.3490C>G (p.Leu1164Val)
11g.17612763C>TCA473305820OTOGc.6472C>T (p.Leu2158=)
c.6436C>T (p.Leu2146=)
c.3490C>T (p.Leu1164=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17612764T>ACA379804631OTOGc.6473T>A (p.Leu2158Gln)
c.6437T>A (p.Leu2146Gln)
c.3491T>A (p.Leu1164Gln)
11g.17612764T>CCA379804632OTOGc.6473T>C (p.Leu2158Pro)
c.6437T>C (p.Leu2146Pro)
c.3491T>C (p.Leu1164Pro)
11g.17612764T>GCA379804634OTOGc.6473T>G (p.Leu2158Arg)
c.6437T>G (p.Leu2146Arg)
c.3491T>G (p.Leu1164Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.17612764T=CA1955233118OTOGc.6473T= (p.Leu2158=)
c.6437T= (p.Leu2146=)
c.3491T= (p.Leu1164=)
11g.17612765G>ACA473305821OTOGc.6474G>A (p.Leu2158=)
c.6438G>A (p.Leu2146=)
c.3492G>A (p.Leu1164=)
 gnomAD v4
11g.17612765G>CCA473305822OTOGc.6474G>C (p.Leu2158=)
c.6438G>C (p.Leu2146=)
c.3492G>C (p.Leu1164=)
11g.17612765G>TCA473305823OTOGc.6474G>T (p.Leu2158=)
c.6438G>T (p.Leu2146=)
c.3492G>T (p.Leu1164=)
11g.17612766G>ACA379804636OTOGc.6474+1G>A (n.6474+1G>A)
c.6438+1G>A (n.6438+1G>A)
c.3492+1G>A (n.3492+1G>A)
 dbSNP gnomAD v4
11g.17612766G>CCA379804638OTOGc.6474+1G>C (n.6474+1G>C)
c.6438+1G>C (n.6438+1G>C)
c.3492+1G>C (n.3492+1G>C)
11g.17612766G=CA1955233119OTOGc.6474+1G= (n.6474+1G=)
c.6438+1G= (n.6438+1G=)
c.3492+1G= (n.3492+1G=)
11g.17612766G>TCA379804639OTOGc.6474+1G>T (n.6474+1G>T)
c.6438+1G>T (n.6438+1G>T)
c.3492+1G>T (n.3492+1G>T)
11g.17612767T>ACA379804641OTOGc.6474+2T>A (n.6474+2T>A)
c.6438+2T>A (n.6438+2T>A)
c.3492+2T>A (n.3492+2T>A)
11g.17612767T>CCA379804643OTOGc.6474+2T>C (n.6474+2T>C)
c.6438+2T>C (n.6438+2T>C)
c.3492+2T>C (n.3492+2T>C)
11g.17612767T>GCA379804644OTOGc.6474+2T>G (n.6474+2T>G)
c.6438+2T>G (n.6438+2T>G)
c.3492+2T>G (n.3492+2T>G)
 dbSNP gnomAD v4
11g.17612767T=CA1955233120OTOGc.6474+2T= (n.6474+2T=)
c.6438+2T= (n.6438+2T=)
c.3492+2T= (n.3492+2T=)

Number of alleles fetched