Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26479332T>ACA346127573OTOFc.2146A>T (p.Ser716Cys)
c.2191A>T (p.Ser731Cys)
2g.26479332T>CCA346127567OTOFc.2146A>G (p.Ser716Gly)
c.2191A>G (p.Ser731Gly)
2g.26479332T>GCA346127570OTOFc.2146A>C (p.Ser716Arg)
c.2191A>C (p.Ser731Arg)
2g.26479333C>ACA346127587OTOFc.2145G>T (p.Lys715Asn)
c.2190G>T (p.Lys730Asn)
2g.26479333C>GCA346127590OTOFc.2145G>C (p.Lys715Asn)
c.2190G>C (p.Lys730Asn)
2g.26479333C>TCA425204766OTOFc.2145G>A (p.Lys715=)
c.2190G>A (p.Lys730=)
2g.26479334T>ACA346127596OTOFc.2144A>T (p.Lys715Met)
c.2189A>T (p.Lys730Met)
2g.26479334T>CCA346127600OTOFc.2144A>G (p.Lys715Arg)
c.2189A>G (p.Lys730Arg)
 dbSNP
2g.26479334T>GCA346127605OTOFc.2144A>C (p.Lys715Thr)
c.2189A>C (p.Lys730Thr)
2g.26479334T=CA1239826244OTOFc.2144A= (p.Lys715=)
c.2189A= (p.Lys730=)
2g.26479335T>ACA346127610OTOFc.2143A>T (p.Lys715Ter)
c.2188A>T (p.Lys730Ter)
2g.26479335T>CCA346127616OTOFc.2143A>G (p.Lys715Glu)
c.2188A>G (p.Lys730Glu)
2g.26479335T>GCA346127614OTOFc.2143A>C (p.Lys715Gln)
c.2188A>C (p.Lys730Gln)
2g.26479336G>ACA425204767OTOFc.2142C>T (p.Ile714=)
c.2187C>T (p.Ile729=)
 gnomAD v4
2g.26479336G>CCA346127634OTOFc.2142C>G (p.Ile714Met)
c.2187C>G (p.Ile729Met)
2g.26479336G>TCA425204768OTOFc.2142C>A (p.Ile714=)
c.2187C>A (p.Ile729=)
2g.26479337A=CA1239826247OTOFc.2141T= (p.Ile714=)
c.2186T= (p.Ile729=)
2g.26479337A>CCA346127638OTOFc.2141T>G (p.Ile714Ser)
c.2186T>G (p.Ile729Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26479337A>GCA346127644OTOFc.2141T>C (p.Ile714Thr)
c.2186T>C (p.Ile729Thr)
2g.26479337A>TCA346127649OTOFc.2141T>A (p.Ile714Asn)
c.2186T>A (p.Ile729Asn)
2g.26479338T>ACA346127655OTOFc.2140A>T (p.Ile714Phe)
c.2185A>T (p.Ile729Phe)
2g.26479338T>CCA346127657OTOFc.2140A>G (p.Ile714Val)
c.2185A>G (p.Ile729Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479338T>GCA346127662OTOFc.2140A>C (p.Ile714Leu)
c.2185A>C (p.Ile729Leu)
2g.26479338T=CA1239826248OTOFc.2140A= (p.Ile714=)
c.2185A= (p.Ile729=)
2g.26479339G>ACA425204769OTOFc.2139C>T (p.Tyr713=)
c.2184C>T (p.Tyr728=)
2g.26479339G>CCA346127666OTOFc.2139C>G (p.Tyr713Ter)
c.2184C>G (p.Tyr728Ter)
2g.26479339G=CA1239826250OTOFc.2139C= (p.Tyr713=)
c.2184C= (p.Tyr728=)
2g.26479339G>TCA346127671OTOFc.2139C>A (p.Tyr713Ter)
c.2184C>A (p.Tyr728Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.26479340T>ACA346127678OTOFc.2138A>T (p.Tyr713Phe)
c.2183A>T (p.Tyr728Phe)
 gnomAD v4
2g.26479340T>CCA346127690OTOFc.2138A>G (p.Tyr713Cys)
c.2183A>G (p.Tyr728Cys)
2g.26479340T>GCA346127694OTOFc.2138A>C (p.Tyr713Ser)
c.2183A>C (p.Tyr728Ser)
2g.26479341A>CCA346127698OTOFc.2137T>G (p.Tyr713Asp)
c.2182T>G (p.Tyr728Asp)
2g.26479341A>GCA346127702OTOFc.2137T>C (p.Tyr713His)
c.2182T>C (p.Tyr728His)
 dbSNP gnomAD v3 gnomAD v4
2g.26479341A>TCA346127699OTOFc.2137T>A (p.Tyr713Asn)
c.2182T>A (p.Tyr728Asn)
2g.26479342G>ACA425204770OTOFc.2136C>T (p.Ile712=)
c.2181C>T (p.Ile727=)
2g.26479342G>CCA346127706OTOFc.2136C>G (p.Ile712Met)
c.2181C>G (p.Ile727Met)
2g.26479342G>TCA425204771OTOFc.2136C>A (p.Ile712=)
c.2181C>A (p.Ile727=)
2g.26479343A>CCA346127718OTOFc.2135T>G (p.Ile712Ser)
c.2180T>G (p.Ile727Ser)
2g.26479343A>GCA346127709OTOFc.2135T>C (p.Ile712Thr)
c.2180T>C (p.Ile727Thr)
2g.26479343A>TCA346127721OTOFc.2135T>A (p.Ile712Asn)
c.2180T>A (p.Ile727Asn)
2g.26479344T>ACA346127727OTOFc.2134A>T (p.Ile712Phe)
c.2179A>T (p.Ile727Phe)
2g.26479344T>CCA346127732OTOFc.2134A>G (p.Ile712Val)
c.2179A>G (p.Ile727Val)
 gnomAD v4
2g.26479344T>GCA346127735OTOFc.2134A>C (p.Ile712Leu)
c.2179A>C (p.Ile727Leu)
2g.26479345G>ACA425204772OTOFc.2133C>T (p.Cys711=)
c.2178C>T (p.Cys726=)
2g.26479345G>CCA346127738OTOFc.2133C>G (p.Cys711Trp)
c.2178C>G (p.Cys726Trp)
2g.26479345G>TCA346127739OTOFc.2133C>A (p.Cys711Ter)
c.2178C>A (p.Cys726Ter)
2g.26479346C>ACA346127740OTOFc.2132G>T (p.Cys711Phe)
c.2177G>T (p.Cys726Phe)
2g.26479346C=CA1239826251OTOFc.2132G= (p.Cys711=)
c.2177G= (p.Cys726=)
2g.26479346C>GCA346127741OTOFc.2132G>C (p.Cys711Ser)
c.2177G>C (p.Cys726Ser)
 gnomAD v4
2g.26479346C>TCA346127744OTOFc.2132G>A (p.Cys711Tyr)
c.2177G>A (p.Cys726Tyr)
 dbSNP gnomAD v4
2g.26479347A>CCA346127747OTOFc.2131T>G (p.Cys711Gly)
c.2176T>G (p.Cys726Gly)
2g.26479347A>GCA346127750OTOFc.2131T>C (p.Cys711Arg)
c.2176T>C (p.Cys726Arg)
 gnomAD v4
2g.26479347A>TCA346127753OTOFc.2131T>A (p.Cys711Ser)
c.2176T>A (p.Cys726Ser)
2g.26479348G>ACA425204773OTOFc.2130C>T (p.Pro710=)
c.2175C>T (p.Pro725=)
2g.26479348G>CCA425204775OTOFc.2130C>G (p.Pro710=)
c.2175C>G (p.Pro725=)
 dbSNP gnomAD v2
2g.26479348G=CA1239826255OTOFc.2130C= (p.Pro710=)
c.2175C= (p.Pro725=)
2g.26479348G>TCA425204774OTOFc.2130C>A (p.Pro710=)
c.2175C>A (p.Pro725=)
2g.26479349G>ACA346127759OTOFc.2129C>T (p.Pro710Leu)
c.2174C>T (p.Pro725Leu)
 COSMIC
2g.26479349G>CCA1564054OTOFc.2129C>G (p.Pro710Arg)
c.2174C>G (p.Pro725Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479349G=CA1239826262OTOFc.2129C= (p.Pro710=)
c.2174C= (p.Pro725=)
2g.26479349G>TCA346127755OTOFc.2129C>A (p.Pro710His)
c.2174C>A (p.Pro725His)
2g.26479350G>ACA346127761OTOFc.2128C>T (p.Pro710Ser)
c.2173C>T (p.Pro725Ser)
 dbSNP gnomAD v4
2g.26479350G>CCA346127766OTOFc.2128C>G (p.Pro710Ala)
c.2173C>G (p.Pro725Ala)
2g.26479350G=CA1239826265OTOFc.2128C= (p.Pro710=)
c.2173C= (p.Pro725=)
2g.26479350G>TCA346127769OTOFc.2128C>A (p.Pro710Thr)
c.2173C>A (p.Pro725Thr)
2g.26479351C>ACA346127774OTOFc.2127G>T (p.Lys709Asn)
c.2172G>T (p.Lys724Asn)
2g.26479351C=CA1239826268OTOFc.2127G= (p.Lys709=)
c.2172G= (p.Lys724=)
2g.26479351C>GCA346127777OTOFc.2127G>C (p.Lys709Asn)
c.2172G>C (p.Lys724Asn)
2g.26479351C>TCA425204776OTOFc.2127G>A (p.Lys709=)
c.2172G>A (p.Lys724=)
 dbSNP
2g.26479352T>ACA346127781OTOFc.2126A>T (p.Lys709Met)
c.2171A>T (p.Lys724Met)
2g.26479352T>CCA44400535OTOFc.2126A>G (p.Lys709Arg)
c.2171A>G (p.Lys724Arg)
 dbSNP
2g.26479352T>GCA346127788OTOFc.2126A>C (p.Lys709Thr)
c.2171A>C (p.Lys724Thr)
2g.26479352T=CA1239826270OTOFc.2126A= (p.Lys709=)
c.2171A= (p.Lys724=)
2g.26479353T>ACA346127803OTOFc.2125A>T (p.Lys709Ter)
c.2170A>T (p.Lys724Ter)
2g.26479353T>CCA346127809OTOFc.2125A>G (p.Lys709Glu)
c.2170A>G (p.Lys724Glu)
2g.26479353T>GCA346127811OTOFc.2125A>C (p.Lys709Gln)
c.2170A>C (p.Lys724Gln)
2g.26479354T>ACA425204777OTOFc.2124A>T (p.Arg708=)
c.2169A>T (p.Arg723=)
2g.26479354T>CCA425204778OTOFc.2124A>G (p.Arg708=)
c.2169A>G (p.Arg723=)
2g.26479354T>GCA425204779OTOFc.2124A>C (p.Arg708=)
c.2169A>C (p.Arg723=)
2g.26479355C>ACA346127827OTOFc.2123G>T (p.Arg708Leu)
c.2168G>T (p.Arg723Leu)
2g.26479355C=CA1239826275OTOFc.2123G= (p.Arg708=)
c.2168G= (p.Arg723=)
2g.26479355C>GCA346127831OTOFc.2123G>C (p.Arg708Pro)
c.2168G>C (p.Arg723Pro)
2g.26479355C>TCA142784OTOFc.2123G>A (p.Arg708Gln)
c.2168G>A (p.Arg723Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479356G>ACA342562OTOFc.2122C>T (p.Arg708Ter)
c.2167C>T (p.Arg723Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479356G>CCA346127835OTOFc.2122C>G (p.Arg708Gly)
c.2167C>G (p.Arg723Gly)
2g.26479356G=CA1239826281OTOFc.2122C= (p.Arg708=)
c.2167C= (p.Arg723=)
2g.26479356G>TCA1564055OTOFc.2122C>A (p.Arg708=)
c.2167C>A (p.Arg723=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479357C>ACA1564056OTOFc.2121G>T (p.Glu707Asp)
c.2166G>T (p.Glu722Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479357C=CA1239826284OTOFc.2121G= (p.Glu707=)
c.2166G= (p.Glu722=)
2g.26479357C>GCA346127841OTOFc.2121G>C (p.Glu707Asp)
c.2166G>C (p.Glu722Asp)
2g.26479357C>TCA425204780OTOFc.2121G>A (p.Glu707=)
c.2166G>A (p.Glu722=)
 dbSNP
2g.26479358T>ACA346127843OTOFc.2120A>T (p.Glu707Val)
c.2165A>T (p.Glu722Val)
2g.26479358T>CCA346127845OTOFc.2120A>G (p.Glu707Gly)
c.2165A>G (p.Glu722Gly)
2g.26479358T>GCA346127848OTOFc.2120A>C (p.Glu707Ala)
c.2165A>C (p.Glu722Ala)
2g.26479359C>ACA346127851OTOFc.2119G>T (p.Glu707Ter)
c.2164G>T (p.Glu722Ter)
2g.26479359C=CA1239826287OTOFc.2119G= (p.Glu707=)
c.2164G= (p.Glu722=)
2g.26479359C>GCA1564057OTOFc.2119G>C (p.Glu707Gln)
c.2164G>C (p.Glu722Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479359C>TCA346127859OTOFc.2119G>A (p.Glu707Lys)
c.2164G>A (p.Glu722Lys)
 gnomAD v4
2g.26479360C>ACA425204781OTOFc.2118G>T (p.Leu706=)
c.2163G>T (p.Leu721=)
2g.26479360C=CA1239826289OTOFc.2118G= (p.Leu706=)
c.2163G= (p.Leu721=)
2g.26479360C>GCA425204782OTOFc.2118G>C (p.Leu706=)
c.2163G>C (p.Leu721=)
 ClinVar
2g.26479360C>TCA44400543OTOFc.2118G>A (p.Leu706=)
c.2163G>A (p.Leu721=)
 dbSNP gnomAD v3 gnomAD v4
2g.26479361A>CCA346127864OTOFc.2117T>G (p.Leu706Arg)
c.2162T>G (p.Leu721Arg)
2g.26479361A>GCA346127866OTOFc.2117T>C (p.Leu706Pro)
c.2162T>C (p.Leu721Pro)
2g.26479361A>TCA346127868OTOFc.2117T>A (p.Leu706Gln)
c.2162T>A (p.Leu721Gln)
2g.26479362G>ACA425204783OTOFc.2116C>T (p.Leu706=)
c.2161C>T (p.Leu721=)
 dbSNP
2g.26479362G>CCA346127869OTOFc.2116C>G (p.Leu706Val)
c.2161C>G (p.Leu721Val)
2g.26479362G=CA1239826292OTOFc.2116C= (p.Leu706=)
c.2161C= (p.Leu721=)
2g.26479362G>TCA346127870OTOFc.2116C>A (p.Leu706Met)
c.2161C>A (p.Leu721Met)
2g.26479363G>ACA425204784OTOFc.2115C>T (p.Tyr705=)
c.2160C>T (p.Tyr720=)
2g.26479363G>CCA346127872OTOFc.2115C>G (p.Tyr705Ter)
c.2160C>G (p.Tyr720Ter)
2g.26479363G>TCA346127873OTOFc.2115C>A (p.Tyr705Ter)
c.2160C>A (p.Tyr720Ter)
2g.26479364T>ACA346127878OTOFc.2114A>T (p.Tyr705Phe)
c.2159A>T (p.Tyr720Phe)
2g.26479364T>CCA346127882OTOFc.2114A>G (p.Tyr705Cys)
c.2159A>G (p.Tyr720Cys)
 gnomAD v4
2g.26479364T>GCA346127885OTOFc.2114A>C (p.Tyr705Ser)
c.2159A>C (p.Tyr720Ser)
2g.26479365A>CCA346127890OTOFc.2113T>G (p.Tyr705Asp)
c.2158T>G (p.Tyr720Asp)
 gnomAD v4
2g.26479365A>GCA346127893OTOFc.2113T>C (p.Tyr705His)
c.2158T>C (p.Tyr720His)
2g.26479365A>TCA346127896OTOFc.2113T>A (p.Tyr705Asn)
c.2158T>A (p.Tyr720Asn)
2g.26479366G>ACA1564058OTOFc.2112C>T (p.Pro704=)
c.2157C>T (p.Pro719=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479366G>CCA425204786OTOFc.2112C>G (p.Pro704=)
c.2157C>G (p.Pro719=)
 ClinVar gnomAD v4
2g.26479366G=CA1239826295OTOFc.2112C= (p.Pro704=)
c.2157C= (p.Pro719=)
2g.26479366G>TCA425204787OTOFc.2112C>A (p.Pro704=)
c.2157C>A (p.Pro719=)
2g.26479367G>ACA346127899OTOFc.2111C>T (p.Pro704Leu)
c.2156C>T (p.Pro719Leu)
 dbSNP
2g.26479367G>CCA346127902OTOFc.2111C>G (p.Pro704Arg)
c.2156C>G (p.Pro719Arg)
2g.26479367G=CA1239826297OTOFc.2111C= (p.Pro704=)
c.2156C= (p.Pro719=)
2g.26479367G>TCA346127905OTOFc.2111C>A (p.Pro704His)
c.2156C>A (p.Pro719His)
2g.26479368G>ACA346127915OTOFc.2110C>T (p.Pro704Ser)
c.2155C>T (p.Pro719Ser)
 dbSNP
2g.26479368G>CCA346127912OTOFc.2110C>G (p.Pro704Ala)
c.2155C>G (p.Pro719Ala)
2g.26479368G=CA1239826300OTOFc.2110C= (p.Pro704=)
c.2155C= (p.Pro719=)
2g.26479368G>TCA346127907OTOFc.2110C>A (p.Pro704Thr)
c.2155C>A (p.Pro719Thr)
2g.26479369C>ACA425204788OTOFc.2109G>T (p.Leu703=)
c.2154G>T (p.Leu718=)
2g.26479369C>GCA425204790OTOFc.2109G>C (p.Leu703=)
c.2154G>C (p.Leu718=)
2g.26479369C>TCA425204789OTOFc.2109G>A (p.Leu703=)
c.2154G>A (p.Leu718=)
2g.26479370A>CCA346127920OTOFc.2108T>G (p.Leu703Arg)
c.2153T>G (p.Leu718Arg)
2g.26479370A>GCA346127925OTOFc.2108T>C (p.Leu703Pro)
c.2153T>C (p.Leu718Pro)
2g.26479370A>TCA346127921OTOFc.2108T>A (p.Leu703Gln)
c.2153T>A (p.Leu718Gln)
2g.26479371G>ACA425204791OTOFc.2107C>T (p.Leu703=)
c.2152C>T (p.Leu718=)
2g.26479371G>CCA346127928OTOFc.2107C>G (p.Leu703Val)
c.2152C>G (p.Leu718Val)
2g.26479371G>TCA346127931OTOFc.2107C>A (p.Leu703Met)
c.2152C>A (p.Leu718Met)
2g.26479372A=CA1239826304OTOFc.2106T= (p.His702=)
c.2151T= (p.His717=)
2g.26479372A>CCA346127934OTOFc.2106T>G (p.His702Gln)
c.2151T>G (p.His717Gln)
2g.26479372A>GCA425204792OTOFc.2106T>C (p.His702=)
c.2151T>C (p.His717=)
2g.26479372A>TCA1564059OTOFc.2106T>A (p.His702Gln)
c.2151T>A (p.His717Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479373T>ACA346127943OTOFc.2105A>T (p.His702Leu)
c.2150A>T (p.His717Leu)
 dbSNP
2g.26479373T>CCA346127946OTOFc.2105A>G (p.His702Arg)
c.2150A>G (p.His717Arg)
2g.26479373T>GCA346127949OTOFc.2105A>C (p.His702Pro)
c.2150A>C (p.His717Pro)
2g.26479373T=CA1239826313OTOFc.2105A= (p.His702=)
c.2150A= (p.His717=)
2g.26479373_26479374delinsTGCA1239826312OTOFc.2104_2105delinsCA (p.His702=)
c.2149_2150delinsCA (p.His717=)
2g.26479374G>ACA346127954OTOFc.2104C>T (p.His702Tyr)
c.2149C>T (p.His717Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.26479374G>CCA346127958OTOFc.2104C>G (p.His702Asp)
c.2149C>G (p.His717Asp)
2g.26479374G=CA1239826316OTOFc.2104C= (p.His702=)
c.2149C= (p.His717=)
2g.26479374G>TCA346127969OTOFc.2104C>A (p.His702Asn)
c.2149C>A (p.His717Asn)
2g.26479375delCA531395246OTOFc.2104del (p.His702IlefsTer?)
c.2149del (p.His717IlefsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.26479375G>ACA425204793OTOFc.2103C>T (p.Phe701=)
c.2148C>T (p.Phe716=)
2g.26479375G>CCA346127976OTOFc.2103C>G (p.Phe701Leu)
c.2148C>G (p.Phe716Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26479375G=CA1239826318OTOFc.2103C= (p.Phe701=)
c.2148C= (p.Phe716=)
2g.26479375G>TCA346127977OTOFc.2103C>A (p.Phe701Leu)
c.2148C>A (p.Phe716Leu)
2g.26479376A>CCA346127979OTOFc.2102T>G (p.Phe701Cys)
c.2147T>G (p.Phe716Cys)
2g.26479376A>GCA346127984OTOFc.2102T>C (p.Phe701Ser)
c.2147T>C (p.Phe716Ser)
2g.26479376A>TCA346127980OTOFc.2102T>A (p.Phe701Tyr)
c.2147T>A (p.Phe716Tyr)
2g.26479377A=CA1239826321OTOFc.2101T= (p.Phe701=)
c.2146T= (p.Phe716=)
2g.26479377A>CCA346127997OTOFc.2101T>G (p.Phe701Val)
c.2146T>G (p.Phe716Val)
2g.26479377A>GCA346128001OTOFc.2101T>C (p.Phe701Leu)
c.2146T>C (p.Phe716Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26479377A>TCA346128004OTOFc.2101T>A (p.Phe701Ile)
c.2146T>A (p.Phe716Ile)
2g.26479378G>ACA1564060OTOFc.2100C>T (p.Tyr700=)
c.2145C>T (p.Tyr715=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479378G>CCA346128014OTOFc.2100C>G (p.Tyr700Ter)
c.2145C>G (p.Tyr715Ter)
2g.26479378G=CA1239826324OTOFc.2100C= (p.Tyr700=)
c.2145C= (p.Tyr715=)
2g.26479378G>TCA346128017OTOFc.2100C>A (p.Tyr700Ter)
c.2145C>A (p.Tyr715Ter)
2g.26479379T>ACA346128020OTOFc.2099A>T (p.Tyr700Phe)
c.2144A>T (p.Tyr715Phe)
2g.26479379T>CCA346128023OTOFc.2099A>G (p.Tyr700Cys)
c.2144A>G (p.Tyr715Cys)
2g.26479379T>GCA346128028OTOFc.2099A>C (p.Tyr700Ser)
c.2144A>C (p.Tyr715Ser)
2g.26479380A>CCA346128037OTOFc.2098T>G (p.Tyr700Asp)
c.2143T>G (p.Tyr715Asp)
2g.26479380A>GCA346128040OTOFc.2098T>C (p.Tyr700His)
c.2143T>C (p.Tyr715His)
2g.26479380A>TCA346128033OTOFc.2098T>A (p.Tyr700Asn)
c.2143T>A (p.Tyr715Asn)
2g.26479381G>ACA44400548OTOFc.2097C>T (p.Asn699=)
c.2142C>T (p.Asn714=)
 dbSNP gnomAD v3 gnomAD v4
2g.26479381G>CCA346128045OTOFc.2097C>G (p.Asn699Lys)
c.2142C>G (p.Asn714Lys)
2g.26479381G=CA1239826328OTOFc.2097C= (p.Asn699=)
c.2142C= (p.Asn714=)
2g.26479381G>TCA346128048OTOFc.2097C>A (p.Asn699Lys)
c.2142C>A (p.Asn714Lys)
2g.26479382T>ACA346128052OTOFc.2096A>T (p.Asn699Ile)
c.2141A>T (p.Asn714Ile)
2g.26479382T>CCA346128056OTOFc.2096A>G (p.Asn699Ser)
c.2141A>G (p.Asn714Ser)
 gnomAD v4
2g.26479382T>GCA346128059OTOFc.2096A>C (p.Asn699Thr)
c.2141A>C (p.Asn714Thr)
2g.26479383T>ACA346128064OTOFc.2095A>T (p.Asn699Tyr)
c.2140A>T (p.Asn714Tyr)
2g.26479383T>CCA346128066OTOFc.2095A>G (p.Asn699Asp)
c.2140A>G (p.Asn714Asp)
2g.26479383T>GCA346128070OTOFc.2095A>C (p.Asn699His)
c.2140A>C (p.Asn714His)
2g.26479384C>ACA346128075OTOFc.2094G>T (p.Arg698Ser)
c.2139G>T (p.Arg713Ser)
 gnomAD v4 COSMIC
2g.26479384C>GCA346128080OTOFc.2094G>C (p.Arg698Ser)
c.2139G>C (p.Arg713Ser)
2g.26479384C>TCA425204806OTOFc.2094G>A (p.Arg698=)
c.2139G>A (p.Arg713=)
 gnomAD v4 COSMIC
2g.26479385delCA2658237321OTOFc.2094del
c.2139del
 gnomAD v4
2g.26479385C>ACA346128084OTOFc.2094-1G>T (n.2094-1G>T)
c.2139-1G>T (n.2139-1G>T)
 gnomAD v4
2g.26479385C>GCA346128094OTOFc.2094-1G>C (n.2094-1G>C)
c.2139-1G>C (n.2139-1G>C)
2g.26479385C>TCA346128103OTOFc.2094-1G>A (n.2094-1G>A)
c.2139-1G>A (n.2139-1G>A)
2g.26479386T>ACA346128114OTOFc.2094-2A>T (n.2094-2A>T)
c.2139-2A>T (n.2139-2A>T)
 COSMIC
2g.26479386T>CCA346128110OTOFc.2094-2A>G (n.2094-2A>G)
c.2139-2A>G (n.2139-2A>G)
2g.26479386T>GCA346128109OTOFc.2094-2A>C (n.2094-2A>C)
c.2139-2A>C (n.2139-2A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26479386T=CA1239826330OTOFc.2094-2A= (n.2094-2A=)
c.2139-2A= (n.2139-2A=)
2g.26479387G>CCA2576699568OTOFc.2094-3C>G (n.2094-3C>G)
c.2139-3C>G (n.2139-3C>G)
2g.26479389G>ACA531395252OTOFc.2094-5C>T (n.2094-5C>T)
c.2139-5C>T (n.2139-5C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26479389G=CA1239826333OTOFc.2094-5C= (n.2094-5C=)
c.2139-5C= (n.2139-5C=)
2g.26479390G>ACA1564061OTOFc.2094-6C>T (n.2094-6C>T)
c.2139-6C>T (n.2139-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479390G=CA1239826334OTOFc.2094-6C= (n.2094-6C=)
c.2139-6C= (n.2139-6C=)
2g.26479391T>CCA2658237322OTOFc.2094-7A>G (n.2094-7A>G)
c.2139-7A>G (n.2139-7A>G)
 gnomAD v4
2g.26479391dupCA1239826336OTOFc.2094-7dup (n.2094-7dup)
c.2139-7dup (n.2139-7dup)
 dbSNP
2g.26479392G>ACA1239826338OTOFc.2094-8C>T (n.2094-8C>T)
c.2139-8C>T (n.2139-8C>T)
 ClinVar dbSNP gnomAD v4
2g.26479392G>CCA2749240715OTOFc.2094-8C>G (n.2094-8C>G)
c.2139-8C>G (n.2139-8C>G)
2g.26479392G=CA1239826337OTOFc.2094-8C= (n.2094-8C=)
c.2139-8C= (n.2139-8C=)
2g.26479394delCA2576699569OTOFc.2094-8del (n.2094-8del)
c.2139-8del (n.2139-8del)
2g.26479393G>ACA1564062OTOFc.2094-9C>T (n.2094-9C>T)
c.2139-9C>T (n.2139-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479393G=CA1239826339OTOFc.2094-9C= (n.2094-9C=)
c.2139-9C= (n.2139-9C=)
2g.26479394G>ACA2658237323OTOFc.2094-10C>T (n.2094-10C>T)
c.2139-10C>T (n.2139-10C>T)
 gnomAD v4
2g.26479395C=CA1239826341OTOFc.2094-11G= (n.2094-11G=)
c.2139-11G= (n.2139-11G=)
2g.26479395C>TCA531395256OTOFc.2094-11G>A (n.2094-11G>A)
c.2139-11G>A (n.2139-11G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26479396A=CA1239826343OTOFc.2094-12T= (n.2094-12T=)
c.2139-12T= (n.2139-12T=)
2g.26479396A>GCA531395257OTOFc.2094-12T>C (n.2094-12T>C)
c.2139-12T>C (n.2139-12T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26479397G>CCA767287230OTOFc.2094-13C>G (n.2094-13C>G)
c.2139-13C>G (n.2139-13C>G)
 ClinVar dbSNP
2g.26479397G=CA1239826344OTOFc.2094-13C= (n.2094-13C=)
c.2139-13C= (n.2139-13C=)
2g.26479398A>GCA2658237325OTOFc.2094-14T>C (n.2094-14T>C)
c.2139-14T>C (n.2139-14T>C)
 gnomAD v4
2g.26479401C>ACA2739274225OTOFc.2094-17G>T (n.2094-17G>T)
c.2139-17G>T (n.2139-17G>T)
 ClinVar
2g.26479401C=CA1239826346OTOFc.2094-17G= (n.2094-17G=)
c.2139-17G= (n.2139-17G=)
2g.26479401C>TCA1564063OTOFc.2094-17G>A (n.2094-17G>A)
c.2139-17G>A (n.2139-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479402G>ACA1564064OTOFc.2094-18C>T (n.2094-18C>T)
c.2139-18C>T (n.2139-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479402G=CA1239826348OTOFc.2094-18C= (n.2094-18C=)
c.2139-18C= (n.2139-18C=)
2g.26479402G>TCA2658237326OTOFc.2094-18C>A (n.2094-18C>A)
c.2139-18C>A (n.2139-18C>A)
 gnomAD v4
2g.26479404G>ACA767287235OTOFc.2094-20C>T (n.2094-20C>T)
c.2139-20C>T (n.2139-20C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26479404G=CA1239826349OTOFc.2094-20C= (n.2094-20C=)
c.2139-20C= (n.2139-20C=)
2g.26479405A=CA1239826350OTOFc.2094-21T= (n.2094-21T=)
c.2139-21T= (n.2139-21T=)
2g.26479405A>GCA1239826351OTOFc.2094-21T>C (n.2094-21T>C)
c.2139-21T>C (n.2139-21T>C)
 dbSNP gnomAD v4
2g.26479406G>ACA2658237327OTOFc.2094-22C>T (n.2094-22C>T)
c.2139-22C>T (n.2139-22C>T)
 gnomAD v4
2g.26479406G=CA1239826353OTOFc.2094-22C= (n.2094-22C=)
c.2139-22C= (n.2139-22C=)
2g.26479406G>TCA531395264OTOFc.2094-22C>A (n.2094-22C>A)
c.2139-22C>A (n.2139-22C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26479407G>TCA2576699570OTOFc.2094-23C>A (n.2094-23C>A)
c.2139-23C>A (n.2139-23C>A)
 gnomAD v4
2g.26479408delCA2576699571OTOFc.2094-24del (n.2094-24del)
c.2139-24del (n.2139-24del)
 gnomAD v4
2g.26479408T>GCA44400557OTOFc.2094-24A>C (n.2094-24A>C)
c.2139-24A>C (n.2139-24A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479408T=CA1239826354OTOFc.2094-24A= (n.2094-24A=)
c.2139-24A= (n.2139-24A=)
2g.26479409G>TCA2658237328OTOFc.2094-25C>A (n.2094-25C>A)
c.2139-25C>A (n.2139-25C>A)
 gnomAD v4
2g.26479410A=CA1239826355OTOFc.2094-26T= (n.2094-26T=)
c.2139-26T= (n.2139-26T=)
2g.26479410A>GCA1028609039OTOFc.2094-26T>C (n.2094-26T>C)
c.2139-26T>C (n.2139-26T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.26479411G>CCA2658237329OTOFc.2094-27C>G (n.2094-27C>G)
c.2139-27C>G (n.2139-27C>G)
 gnomAD v4
2g.26479411G=CA1239826357OTOFc.2094-27C= (n.2094-27C=)
c.2139-27C= (n.2139-27C=)
2g.26479411G>TCA531395266OTOFc.2094-27C>A (n.2094-27C>A)
c.2139-27C>A (n.2139-27C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26479412G>ACA2658237330OTOFc.2094-28C>T (n.2094-28C>T)
c.2139-28C>T (n.2139-28C>T)
 gnomAD v4
2g.26479412G>CCA767287237OTOFc.2094-28C>G (n.2094-28C>G)
c.2139-28C>G (n.2139-28C>G)
 dbSNP
2g.26479412G=CA1239826360OTOFc.2094-28C= (n.2094-28C=)
c.2139-28C= (n.2139-28C=)
2g.26479412G>TCA1239826359OTOFc.2094-28C>A (n.2094-28C>A)
c.2139-28C>A (n.2139-28C>A)
 dbSNP
2g.26479413T>GCA1028609040OTOFc.2094-29A>C (n.2094-29A>C)
c.2139-29A>C (n.2139-29A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.26479413T=CA1239826361OTOFc.2094-29A= (n.2094-29A=)
c.2139-29A= (n.2139-29A=)
2g.26479415T>ACA531395269OTOFc.2094-31A>T (n.2094-31A>T)
c.2139-31A>T (n.2139-31A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479415T>CCA2658237331OTOFc.2094-31A>G (n.2094-31A>G)
c.2139-31A>G (n.2139-31A>G)
 gnomAD v4
2g.26479415T=CA1239826363OTOFc.2094-31A= (n.2094-31A=)
c.2139-31A= (n.2139-31A=)
2g.26479419G=CA1239826364OTOFc.2094-35C= (n.2094-35C=)
c.2139-35C= (n.2139-35C=)
2g.26479419G>TCA1564065OTOFc.2094-35C>A (n.2094-35C>A)
c.2139-35C>A (n.2139-35C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26479421G>ACA1564066OTOFc.2094-37C>T (n.2094-37C>T)
c.2139-37C>T (n.2139-37C>T)
 dbSNP ExAC gnomAD v2
2g.26479421G=CA1239826366OTOFc.2094-37C= (n.2094-37C=)
c.2139-37C= (n.2139-37C=)
2g.26479421G>TCA2749240716OTOFc.2094-37C>A (n.2094-37C>A)
c.2139-37C>A (n.2139-37C>A)
2g.26479422C=CA1239826368OTOFc.2094-38G= (n.2094-38G=)
c.2139-38G= (n.2139-38G=)
2g.26479422C>TCA1239826371OTOFc.2094-38G>A (n.2094-38G>A)
c.2139-38G>A (n.2139-38G>A)
 dbSNP
2g.26479428_26479444delCA2658237332OTOFc.2093+34_2094-39del (n.2093+34_2094-39del)
c.2138+34_2139-39del (n.2138+34_2139-39del)
 gnomAD v4
2g.26479425A>CCA2749240717OTOFc.2094-41T>G (n.2094-41T>G)
c.2139-41T>G (n.2139-41T>G)
2g.26479425A>TCA2749240718OTOFc.2094-41T>A (n.2094-41T>A)
c.2139-41T>A (n.2139-41T>A)
2g.26479426G>ACA2658237333OTOFc.2094-42C>T (n.2094-42C>T)
c.2139-42C>T (n.2139-42C>T)
 gnomAD v4
2g.26479429A>TCA2749240719OTOFc.2094-45T>A (n.2094-45T>A)
c.2139-45T>A (n.2139-45T>A)
2g.26479430G>TCA2658237334OTOFc.2093+43C>A (n.2093+43C>A)
c.2138+43C>A (n.2138+43C>A)
 gnomAD v4
2g.26479431G>TCA2658237335OTOFc.2093+42C>A (n.2093+42C>A)
c.2138+42C>A (n.2138+42C>A)
 gnomAD v4
2g.26479432T>GCA1028609041OTOFc.2093+41A>C (n.2093+41A>C)
c.2138+41A>C (n.2138+41A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.26479432T=CA1239826373OTOFc.2093+41A= (n.2093+41A=)
c.2138+41A= (n.2138+41A=)

Number of alleles fetched