Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26479233delCA2576699566OTOFc.2214+34del (n.2214+34del)
c.2259+34del (n.2259+34del)
 gnomAD v4
2g.26479232C>TCA2658237286OTOFc.2214+32G>A (n.2214+32G>A)
c.2259+32G>A (n.2259+32G>A)
 gnomAD v4
2g.26479233C>ACA2658237287OTOFc.2214+31G>T (n.2214+31G>T)
c.2259+31G>T (n.2259+31G>T)
 gnomAD v4
2g.26479233C=CA1239831845OTOFc.2214+31G= (n.2214+31G=)
c.2259+31G= (n.2259+31G=)
2g.26479233C>TCA1239831847OTOFc.2214+31G>A (n.2214+31G>A)
c.2259+31G>A (n.2259+31G>A)
 dbSNP
2g.26479234A>CCA2658237288OTOFc.2214+30T>G (n.2214+30T>G)
c.2259+30T>G (n.2259+30T>G)
 dbSNP gnomAD v4
2g.26479235C>ACA2658237289OTOFc.2214+29G>T (n.2214+29G>T)
c.2259+29G>T (n.2259+29G>T)
 gnomAD v4
2g.26479235C>GCA2658237290OTOFc.2214+29G>C (n.2214+29G>C)
c.2259+29G>C (n.2259+29G>C)
 gnomAD v4
2g.26479235C>TCA2658237291OTOFc.2214+29G>A (n.2214+29G>A)
c.2259+29G>A (n.2259+29G>A)
 gnomAD v4
2g.26479236C>ACA1564034OTOFc.2214+28G>T (n.2214+28G>T)
c.2259+28G>T (n.2259+28G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479236C=CA1239831851OTOFc.2214+28G= (n.2214+28G=)
c.2259+28G= (n.2259+28G=)
2g.26479236C>GCA2658237293OTOFc.2214+28G>C (n.2214+28G>C)
c.2259+28G>C (n.2259+28G>C)
 gnomAD v4
2g.26479236C>TCA44400465OTOFc.2214+28G>A (n.2214+28G>A)
c.2259+28G>A (n.2259+28G>A)
 dbSNP gnomAD v4
2g.26479237C=CA1239831853OTOFc.2214+27G= (n.2214+27G=)
c.2259+27G= (n.2259+27G=)
2g.26479237C>GCA2658237295OTOFc.2214+27G>C (n.2214+27G>C)
c.2259+27G>C (n.2259+27G>C)
 gnomAD v4
2g.26479237C>TCA1239831854OTOFc.2214+27G>A (n.2214+27G>A)
c.2259+27G>A (n.2259+27G>A)
 dbSNP
2g.26479238C>ACA2658237296OTOFc.2214+26G>T (n.2214+26G>T)
c.2259+26G>T (n.2259+26G>T)
 gnomAD v4
2g.26479239T>CCA2658237297OTOFc.2214+25A>G (n.2214+25A>G)
c.2259+25A>G (n.2259+25A>G)
 gnomAD v4
2g.26479240G>ACA2658237298OTOFc.2214+24C>T (n.2214+24C>T)
c.2259+24C>T (n.2259+24C>T)
 gnomAD v4
2g.26479240G>CCA1564035OTOFc.2214+24C>G (n.2214+24C>G)
c.2259+24C>G (n.2259+24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479240G=CA1239831856OTOFc.2214+24C= (n.2214+24C=)
c.2259+24C= (n.2259+24C=)
2g.26479240G>TCA2658237299OTOFc.2214+24C>A (n.2214+24C>A)
c.2259+24C>A (n.2259+24C>A)
 gnomAD v4
2g.26479241C=CA1239831859OTOFc.2214+23G= (n.2214+23G=)
c.2259+23G= (n.2259+23G=)
2g.26479241C>TCA44400470OTOFc.2214+23G>A (n.2214+23G>A)
c.2259+23G>A (n.2259+23G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479242T>CCA44400473OTOFc.2214+22A>G (n.2214+22A>G)
c.2259+22A>G (n.2259+22A>G)
 dbSNP
2g.26479242T=CA1239831861OTOFc.2214+22A= (n.2214+22A=)
c.2259+22A= (n.2259+22A=)
2g.26479244G>ACA531395195OTOFc.2214+20C>T (n.2214+20C>T)
c.2259+20C>T (n.2259+20C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26479244G=CA1239831865OTOFc.2214+20C= (n.2214+20C=)
c.2259+20C= (n.2259+20C=)
2g.26479245C>ACA2658237303OTOFc.2214+19G>T (n.2214+19G>T)
c.2259+19G>T (n.2259+19G>T)
 gnomAD v4
2g.26479245C>TCA2658237304OTOFc.2214+19G>A (n.2214+19G>A)
c.2259+19G>A (n.2259+19G>A)
 ClinVar gnomAD v4
2g.26479246C>TCA2658237305OTOFc.2214+18G>A (n.2214+18G>A)
c.2259+18G>A (n.2259+18G>A)
 gnomAD v4
2g.26479247C>ACA1239831869OTOFc.2214+17G>T (n.2214+17G>T)
c.2259+17G>T (n.2259+17G>T)
 dbSNP
2g.26479247C=CA1239831867OTOFc.2214+17G= (n.2214+17G=)
c.2259+17G= (n.2259+17G=)
2g.26479247C>TCA531395196OTOFc.2214+17G>A (n.2214+17G>A)
c.2259+17G>A (n.2259+17G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26479249delCA2658237306OTOFc.2214+15del (n.2214+15del)
c.2259+15del (n.2259+15del)
 gnomAD v4
2g.26479249T>ACA2576699567OTOFc.2214+15A>T (n.2214+15A>T)
c.2259+15A>T (n.2259+15A>T)
2g.26479251G>ACA2658237307OTOFc.2214+13C>T (n.2214+13C>T)
c.2259+13C>T (n.2259+13C>T)
 gnomAD v4
2g.26479252C>ACA2658237308OTOFc.2214+12G>T (n.2214+12G>T)
c.2259+12G>T (n.2259+12G>T)
 gnomAD v4
2g.26479255G>ACA2749240709OTOFc.2214+9C>T (n.2214+9C>T)
c.2259+9C>T (n.2259+9C>T)
2g.26479256G>ACA44400478OTOFc.2214+8C>T (n.2214+8C>T)
c.2259+8C>T (n.2259+8C>T)
 dbSNP gnomAD v4
2g.26479256G>CCA2658237310OTOFc.2214+8C>G (n.2214+8C>G)
c.2259+8C>G (n.2259+8C>G)
 gnomAD v4
2g.26479256G=CA1239831871OTOFc.2214+8C= (n.2214+8C=)
c.2259+8C= (n.2259+8C=)
2g.26479256G>TCA2658237309OTOFc.2214+8C>A (n.2214+8C>A)
c.2259+8C>A (n.2259+8C>A)
 gnomAD v4
2g.26479257C>ACA2658237311OTOFc.2214+7G>T (n.2214+7G>T)
c.2259+7G>T (n.2259+7G>T)
 gnomAD v4
2g.26479257C=CA1239831874OTOFc.2214+7G= (n.2214+7G=)
c.2259+7G= (n.2259+7G=)
2g.26479257C>TCA531395197OTOFc.2214+7G>A (n.2214+7G>A)
c.2259+7G>A (n.2259+7G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26479258C>ACA2658237312OTOFc.2214+6G>T (n.2214+6G>T)
c.2259+6G>T (n.2259+6G>T)
 gnomAD v4
2g.26479258C>TCA2658237313OTOFc.2214+6G>A (n.2214+6G>A)
c.2259+6G>A (n.2259+6G>A)
 gnomAD v4
2g.26479259C>ACA2586968842OTOFc.2214+5G>T (n.2214+5G>T)
c.2259+5G>T (n.2259+5G>T)
2g.26479259C>GCA2580066184OTOFc.2214+5G>C (n.2214+5G>C)
c.2259+5G>C (n.2259+5G>C)
 ClinVar
2g.26479259C>TCA2586968841OTOFc.2214+5G>A (n.2214+5G>A)
c.2259+5G>A (n.2259+5G>A)
 gnomAD v4
2g.26479260T>CCA531395198OTOFc.2214+4A>G (n.2214+4A>G)
c.2259+4A>G (n.2259+4A>G)
 dbSNP gnomAD v2
2g.26479260T=CA1239831876OTOFc.2214+4A= (n.2214+4A=)
c.2259+4A= (n.2259+4A=)
2g.26479261G>TCA2658237315OTOFc.2214+3C>A (n.2214+3C>A)
c.2259+3C>A (n.2259+3C>A)
 gnomAD v4
2g.26479262A=CA1239831879OTOFc.2214+2T= (n.2214+2T=)
c.2259+2T= (n.2259+2T=)
2g.26479262A>CCA346127102OTOFc.2214+2T>G (n.2214+2T>G)
c.2259+2T>G (n.2259+2T>G)
 dbSNP
2g.26479262A>GCA346127104OTOFc.2214+2T>C (n.2214+2T>C)
c.2259+2T>C (n.2259+2T>C)
2g.26479262A>TCA346127106OTOFc.2214+2T>A (n.2214+2T>A)
c.2259+2T>A (n.2259+2T>A)
2g.26479263C>ACA342564OTOFc.2214+1G>T (n.2214+1G>T)
c.2259+1G>T (n.2259+1G>T)
 ClinVar dbSNP
2g.26479263C=CA1239831883OTOFc.2214+1G= (n.2214+1G=)
c.2259+1G= (n.2259+1G=)
2g.26479263C>GCA346127112OTOFc.2214+1G>C (n.2214+1G>C)
c.2259+1G>C (n.2259+1G>C)
2g.26479263C>TCA346127109OTOFc.2214+1G>A (n.2214+1G>A)
c.2259+1G>A (n.2259+1G>A)
 gnomAD v4
2g.26479264C>ACA425204645OTOFc.2214G>T (p.Leu738=)
c.2259G>T (p.Leu753=)
2g.26479264C>GCA425204647OTOFc.2214G>C (p.Leu738=)
c.2259G>C (p.Leu753=)
2g.26479264C>TCA425204649OTOFc.2214G>A (p.Leu738=)
c.2259G>A (p.Leu753=)
 gnomAD v4
2g.26479265A>CCA346127115OTOFc.2213T>G (p.Leu738Arg)
c.2258T>G (p.Leu753Arg)
2g.26479265A>GCA346127121OTOFc.2213T>C (p.Leu738Pro)
c.2258T>C (p.Leu753Pro)
2g.26479265A>TCA346127119OTOFc.2213T>A (p.Leu738Gln)
c.2258T>A (p.Leu753Gln)
2g.26479266G>ACA425204654OTOFc.2212C>T (p.Leu738=)
c.2257C>T (p.Leu753=)
2g.26479266G>CCA346127122OTOFc.2212C>G (p.Leu738Val)
c.2257C>G (p.Leu753Val)
2g.26479266G>TCA346127124OTOFc.2212C>A (p.Leu738Met)
c.2257C>A (p.Leu753Met)
2g.26479267C>ACA346127125OTOFc.2211G>T (p.Lys737Asn)
c.2256G>T (p.Lys752Asn)
2g.26479267C=CA1239831885OTOFc.2211G= (p.Lys737=)
c.2256G= (p.Lys752=)
2g.26479267C>GCA346127129OTOFc.2211G>C (p.Lys737Asn)
c.2256G>C (p.Lys752Asn)
2g.26479267C>TCA1564036OTOFc.2211G>A (p.Lys737=)
c.2256G>A (p.Lys752=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479268T>ACA346127133OTOFc.2210A>T (p.Lys737Met)
c.2255A>T (p.Lys752Met)
2g.26479268T>CCA346127138OTOFc.2210A>G (p.Lys737Arg)
c.2255A>G (p.Lys752Arg)
2g.26479268T>GCA346127142OTOFc.2210A>C (p.Lys737Thr)
c.2255A>C (p.Lys752Thr)
2g.26479269T>ACA346127146OTOFc.2209A>T (p.Lys737Ter)
c.2254A>T (p.Lys752Ter)
2g.26479269T>CCA346127150OTOFc.2209A>G (p.Lys737Glu)
c.2254A>G (p.Lys752Glu)
2g.26479269T>GCA346127155OTOFc.2209A>C (p.Lys737Gln)
c.2254A>C (p.Lys752Gln)
2g.26479270G>ACA425204671OTOFc.2208C>T (p.Asp736=)
c.2253C>T (p.Asp751=)
2g.26479270G>CCA346127158OTOFc.2208C>G (p.Asp736Glu)
c.2253C>G (p.Asp751Glu)
2g.26479270G>TCA346127160OTOFc.2208C>A (p.Asp736Glu)
c.2253C>A (p.Asp751Glu)
2g.26479271T>ACA346127161OTOFc.2207A>T (p.Asp736Val)
c.2252A>T (p.Asp751Val)
2g.26479271T>CCA346127163OTOFc.2207A>G (p.Asp736Gly)
c.2252A>G (p.Asp751Gly)
2g.26479271T>GCA346127162OTOFc.2207A>C (p.Asp736Ala)
c.2252A>C (p.Asp751Ala)
2g.26479272C>ACA346127164OTOFc.2206G>T (p.Asp736Tyr)
c.2251G>T (p.Asp751Tyr)
 gnomAD v4
2g.26479272C=CA1239831889OTOFc.2206G= (p.Asp736=)
c.2251G= (p.Asp751=)
2g.26479272C>GCA346127166OTOFc.2206G>C (p.Asp736His)
c.2251G>C (p.Asp751His)
 gnomAD v4
2g.26479272C>TCA1564037OTOFc.2206G>A (p.Asp736Asn)
c.2251G>A (p.Asp751Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26479273G>ACA1564038OTOFc.2205C>T (p.Ala735=)
c.2250C>T (p.Ala750=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479273G>CCA425204678OTOFc.2205C>G (p.Ala735=)
c.2250C>G (p.Ala750=)
 dbSNP gnomAD v2 gnomAD v4
2g.26479273G=CA1239831894OTOFc.2205C= (p.Ala735=)
c.2250C= (p.Ala750=)
2g.26479273G>TCA425204679OTOFc.2205C>A (p.Ala735=)
c.2250C>A (p.Ala750=)
 gnomAD v4
2g.26479274G>ACA346127182OTOFc.2204C>T (p.Ala735Val)
c.2249C>T (p.Ala750Val)
2g.26479274G>CCA346127187OTOFc.2204C>G (p.Ala735Gly)
c.2249C>G (p.Ala750Gly)
2g.26479274G>TCA346127190OTOFc.2204C>A (p.Ala735Asp)
c.2249C>A (p.Ala750Asp)
2g.26479275C>ACA346127196OTOFc.2203G>T (p.Ala735Ser)
c.2248G>T (p.Ala750Ser)
2g.26479275C>GCA346127197OTOFc.2203G>C (p.Ala735Pro)
c.2248G>C (p.Ala750Pro)
2g.26479275C>TCA346127202OTOFc.2203G>A (p.Ala735Thr)
c.2248G>A (p.Ala750Thr)
2g.26479276A=CA1239831897OTOFc.2202T= (p.Ile734=)
c.2247T= (p.Ile749=)
2g.26479276A>CCA346127203OTOFc.2202T>G (p.Ile734Met)
c.2247T>G (p.Ile749Met)
2g.26479276A>GCA425204686OTOFc.2202T>C (p.Ile734=)
c.2247T>C (p.Ile749=)
 ClinVar dbSNP
2g.26479276A>TCA425204688OTOFc.2202T>A (p.Ile734=)
c.2247T>A (p.Ile749=)
2g.26479277A>CCA346127207OTOFc.2201T>G (p.Ile734Ser)
c.2246T>G (p.Ile749Ser)
 gnomAD v4
2g.26479277A>GCA346127204OTOFc.2201T>C (p.Ile734Thr)
c.2246T>C (p.Ile749Thr)
2g.26479277A>TCA346127206OTOFc.2201T>A (p.Ile734Asn)
c.2246T>A (p.Ile749Asn)
 COSMIC
2g.26479278T>ACA346127208OTOFc.2200A>T (p.Ile734Phe)
c.2245A>T (p.Ile749Phe)
2g.26479278T>CCA346127209OTOFc.2200A>G (p.Ile734Val)
c.2245A>G (p.Ile749Val)
2g.26479278T>GCA346127217OTOFc.2200A>C (p.Ile734Leu)
c.2245A>C (p.Ile749Leu)
2g.26479278T=CA1239831903OTOFc.2200A= (p.Ile734=)
c.2245A= (p.Ile749=)
2g.26479279G>ACA425204701OTOFc.2199C>T (p.His733=)
c.2244C>T (p.His748=)
 gnomAD v4
2g.26479279G>CCA346127223OTOFc.2199C>G (p.His733Gln)
c.2244C>G (p.His748Gln)
2g.26479279G>TCA346127224OTOFc.2199C>A (p.His733Gln)
c.2244C>A (p.His748Gln)
2g.26479281_26479283dupCA767286927OTOFc.2197_2199dup (p.His733_Ile734insHis)
c.2242_2244dup (p.His748_Ile749insHis)
 dbSNP gnomAD v3 gnomAD v4
2g.26479280T>ACA346127226OTOFc.2198A>T (p.His733Leu)
c.2243A>T (p.His748Leu)
2g.26479280T>CCA346127227OTOFc.2198A>G (p.His733Arg)
c.2243A>G (p.His748Arg)
 gnomAD v4
2g.26479280T>GCA346127232OTOFc.2198A>C (p.His733Pro)
c.2243A>C (p.His748Pro)
2g.26479281G>ACA346127238OTOFc.2197C>T (p.His733Tyr)
c.2242C>T (p.His748Tyr)
2g.26479281G>CCA1564039OTOFc.2197C>G (p.His733Asp)
c.2242C>G (p.His748Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479281G=CA1239831910OTOFc.2197C= (p.His733=)
c.2242C= (p.His748=)
2g.26479281G>TCA346127241OTOFc.2197C>A (p.His733Asn)
c.2242C>A (p.His748Asn)
2g.26479282G>ACA44400492OTOFc.2196C>T (p.Asp732=)
c.2241C>T (p.Asp747=)
 dbSNP gnomAD v2
2g.26479282G>CCA346127243OTOFc.2196C>G (p.Asp732Glu)
c.2241C>G (p.Asp747Glu)
2g.26479282G=CA1239831915OTOFc.2196C= (p.Asp732=)
c.2241C= (p.Asp747=)
2g.26479282G>TCA346127242OTOFc.2196C>A (p.Asp732Glu)
c.2241C>A (p.Asp747Glu)
2g.26479284_26479292delCA2658237317OTOFc.2188_2196del (p.Ile730_Asp732del)
c.2233_2241del (p.Ile745_Asp747del)
 gnomAD v4
2g.26479283T>ACA346127253OTOFc.2195A>T (p.Asp732Val)
c.2240A>T (p.Asp747Val)
2g.26479283T>CCA346127255OTOFc.2195A>G (p.Asp732Gly)
c.2240A>G (p.Asp747Gly)
2g.26479283T>GCA346127261OTOFc.2195A>C (p.Asp732Ala)
c.2240A>C (p.Asp747Ala)
2g.26479284C>ACA346127262OTOFc.2194G>T (p.Asp732Tyr)
c.2239G>T (p.Asp747Tyr)
2g.26479284C=CA1239831917OTOFc.2194G= (p.Asp732=)
c.2239G= (p.Asp747=)
2g.26479284C>GCA346127265OTOFc.2194G>C (p.Asp732His)
c.2239G>C (p.Asp747His)
 dbSNP
2g.26479284C>TCA346127268OTOFc.2194G>A (p.Asp732Asn)
c.2239G>A (p.Asp747Asn)
2g.26479285C>ACA346127273OTOFc.2193G>T (p.Met731Ile)
c.2238G>T (p.Met746Ile)
2g.26479285C=CA1239831919OTOFc.2193G= (p.Met731=)
c.2238G= (p.Met746=)
2g.26479285C>GCA346127281OTOFc.2193G>C (p.Met731Ile)
c.2238G>C (p.Met746Ile)
2g.26479285C>TCA1564040OTOFc.2193G>A (p.Met731Ile)
c.2238G>A (p.Met746Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479286A=CA1239831921OTOFc.2192T= (p.Met731=)
c.2237T= (p.Met746=)
2g.26479286A>CCA346127290OTOFc.2192T>G (p.Met731Arg)
c.2237T>G (p.Met746Arg)
 dbSNP
2g.26479286A>GCA346127291OTOFc.2192T>C (p.Met731Thr)
c.2237T>C (p.Met746Thr)
 gnomAD v4
2g.26479286A>TCA346127292OTOFc.2192T>A (p.Met731Lys)
c.2237T>A (p.Met746Lys)
2g.26479287T>ACA346127303OTOFc.2191A>T (p.Met731Leu)
c.2236A>T (p.Met746Leu)
2g.26479287T>CCA346127298OTOFc.2191A>G (p.Met731Val)
c.2236A>G (p.Met746Val)
 gnomAD v4
2g.26479287T>GCA346127294OTOFc.2191A>C (p.Met731Leu)
c.2236A>C (p.Met746Leu)
 gnomAD v4
2g.26479288G>ACA425204729OTOFc.2190C>T (p.Ile730=)
c.2235C>T (p.Ile745=)
 dbSNP gnomAD v3 gnomAD v4
2g.26479288G>CCA346127308OTOFc.2190C>G (p.Ile730Met)
c.2235C>G (p.Ile745Met)
2g.26479288G=CA1239831924OTOFc.2190C= (p.Ile730=)
c.2235C= (p.Ile745=)
2g.26479288G>TCA425204731OTOFc.2190C>A (p.Ile730=)
c.2235C>A (p.Ile745=)
2g.26479289A>CCA346127314OTOFc.2189T>G (p.Ile730Ser)
c.2234T>G (p.Ile745Ser)
2g.26479289A>GCA346127311OTOFc.2189T>C (p.Ile730Thr)
c.2234T>C (p.Ile745Thr)
2g.26479289A>TCA346127318OTOFc.2189T>A (p.Ile730Asn)
c.2234T>A (p.Ile745Asn)
2g.26479290T>ACA346127319OTOFc.2188A>T (p.Ile730Phe)
c.2233A>T (p.Ile745Phe)
2g.26479290T>CCA346127321OTOFc.2188A>G (p.Ile730Val)
c.2233A>G (p.Ile745Val)
 gnomAD v4
2g.26479290T>GCA346127320OTOFc.2188A>C (p.Ile730Leu)
c.2233A>C (p.Ile745Leu)
2g.26479291G>ACA1564041OTOFc.2187C>T (p.Asn729=)
c.2232C>T (p.Asn744=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479291G>CCA346127326OTOFc.2187C>G (p.Asn729Lys)
c.2232C>G (p.Asn744Lys)
2g.26479291G=CA1239831928OTOFc.2187C= (p.Asn729=)
c.2232C= (p.Asn744=)
2g.26479291G>TCA346127324OTOFc.2187C>A (p.Asn729Lys)
c.2232C>A (p.Asn744Lys)
2g.26479292T>ACA346127329OTOFc.2186A>T (p.Asn729Ile)
c.2231A>T (p.Asn744Ile)
2g.26479292T>CCA346127337OTOFc.2186A>G (p.Asn729Ser)
c.2231A>G (p.Asn744Ser)
2g.26479292T>GCA346127333OTOFc.2186A>C (p.Asn729Thr)
c.2231A>C (p.Asn744Thr)
2g.26479293T>ACA346127341OTOFc.2185A>T (p.Asn729Tyr)
c.2230A>T (p.Asn744Tyr)
2g.26479293T>CCA346127348OTOFc.2185A>G (p.Asn729Asp)
c.2230A>G (p.Asn744Asp)
2g.26479293T>GCA346127353OTOFc.2185A>C (p.Asn729His)
c.2230A>C (p.Asn744His)
 gnomAD v4
2g.26479294G>ACA425204738OTOFc.2184C>T (p.Ala728=)
c.2229C>T (p.Ala743=)
 gnomAD v4
2g.26479294G>CCA425204739OTOFc.2184C>G (p.Ala728=)
c.2229C>G (p.Ala743=)
2g.26479294G>TCA425204740OTOFc.2184C>A (p.Ala728=)
c.2229C>A (p.Ala743=)
2g.26479295delCA2658237318OTOFc.2184del (p.Asn729ThrfsTer14)
c.2229del (p.Asn744ThrfsTer14)
 gnomAD v4
2g.26479295G>ACA346127357OTOFc.2183C>T (p.Ala728Val)
c.2228C>T (p.Ala743Val)
 dbSNP gnomAD v2
2g.26479295G>CCA346127363OTOFc.2183C>G (p.Ala728Gly)
c.2228C>G (p.Ala743Gly)
2g.26479295G=CA1239831931OTOFc.2183C= (p.Ala728=)
c.2228C= (p.Ala743=)
2g.26479295G>TCA346127366OTOFc.2183C>A (p.Ala728Asp)
c.2228C>A (p.Ala743Asp)
2g.26479296C>ACA346127367OTOFc.2182G>T (p.Ala728Ser)
c.2227G>T (p.Ala743Ser)
2g.26479296C>GCA346127368OTOFc.2182G>C (p.Ala728Pro)
c.2227G>C (p.Ala743Pro)
2g.26479296C>TCA346127369OTOFc.2182G>A (p.Ala728Thr)
c.2227G>A (p.Ala743Thr)
2g.26479297A>CCA346127370OTOFc.2181T>G (p.Asn727Lys)
c.2226T>G (p.Asn742Lys)
2g.26479297A>GCA425204746OTOFc.2181T>C (p.Asn727=)
c.2226T>C (p.Asn742=)
2g.26479297A>TCA346127376OTOFc.2181T>A (p.Asn727Lys)
c.2226T>A (p.Asn742Lys)
2g.26479298T>ACA346127381OTOFc.2180A>T (p.Asn727Ile)
c.2225A>T (p.Asn742Ile)
2g.26479298T>CCA1564042OTOFc.2180A>G (p.Asn727Ser)
c.2225A>G (p.Asn742Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26479298T>GCA346127378OTOFc.2180A>C (p.Asn727Thr)
c.2225A>C (p.Asn742Thr)
2g.26479298T=CA1239831937OTOFc.2180A= (p.Asn727=)
c.2225A= (p.Asn742=)
2g.26479299T>ACA346127385OTOFc.2179A>T (p.Asn727Tyr)
c.2224A>T (p.Asn742Tyr)
2g.26479299T>CCA1564043OTOFc.2179A>G (p.Asn727Asp)
c.2224A>G (p.Asn742Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479299T>GCA346127394OTOFc.2179A>C (p.Asn727His)
c.2224A>C (p.Asn742His)
2g.26479299T=CA1239831942OTOFc.2179A= (p.Asn727=)
c.2224A= (p.Asn742=)
2g.26479300G>ACA425204747OTOFc.2178C>T (p.Tyr726=)
c.2223C>T (p.Tyr741=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479300G>CCA346127399OTOFc.2178C>G (p.Tyr726Ter)
c.2223C>G (p.Tyr741Ter)
2g.26479300G=CA1239831946OTOFc.2178C= (p.Tyr726=)
c.2223C= (p.Tyr741=)
2g.26479300G>TCA346127405OTOFc.2178C>A (p.Tyr726Ter)
c.2223C>A (p.Tyr741Ter)
2g.26479301T>ACA346127408OTOFc.2177A>T (p.Tyr726Phe)
c.2222A>T (p.Tyr741Phe)
2g.26479301T>CCA346127410OTOFc.2177A>G (p.Tyr726Cys)
c.2222A>G (p.Tyr741Cys)
 gnomAD v4
2g.26479301T>GCA346127411OTOFc.2177A>C (p.Tyr726Ser)
c.2222A>C (p.Tyr741Ser)
2g.26479302A>CCA346127414OTOFc.2176T>G (p.Tyr726Asp)
c.2221T>G (p.Tyr741Asp)
2g.26479302A>GCA346127418OTOFc.2176T>C (p.Tyr726His)
c.2221T>C (p.Tyr741His)
2g.26479302A>TCA346127420OTOFc.2176T>A (p.Tyr726Asn)
c.2221T>A (p.Tyr741Asn)
2g.26479303G>ACA425204749OTOFc.2175C>T (p.Leu725=)
c.2220C>T (p.Leu740=)
 ClinVar dbSNP
2g.26479303G>CCA425204750OTOFc.2175C>G (p.Leu725=)
c.2220C>G (p.Leu740=)
 gnomAD v4
2g.26479303G=CA1239831950OTOFc.2175C= (p.Leu725=)
c.2220C= (p.Leu740=)
2g.26479303G>TCA425204751OTOFc.2175C>A (p.Leu725=)
c.2220C>A (p.Leu740=)
2g.26479304A>CCA346127422OTOFc.2174T>G (p.Leu725Arg)
c.2219T>G (p.Leu740Arg)
2g.26479304A>GCA346127424OTOFc.2174T>C (p.Leu725Pro)
c.2219T>C (p.Leu740Pro)
2g.26479304A>TCA346127421OTOFc.2174T>A (p.Leu725His)
c.2219T>A (p.Leu740His)
2g.26479305G>ACA346127427OTOFc.2173C>T (p.Leu725Phe)
c.2218C>T (p.Leu740Phe)
2g.26479305G>CCA346127428OTOFc.2173C>G (p.Leu725Val)
c.2218C>G (p.Leu740Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479305G=CA1239831954OTOFc.2173C= (p.Leu725=)
c.2218C= (p.Leu740=)
2g.26479305G>TCA346127429OTOFc.2173C>A (p.Leu725Ile)
c.2218C>A (p.Leu740Ile)
2g.26479306G>ACA425204752OTOFc.2172C>T (p.Arg724=)
c.2217C>T (p.Arg739=)
2g.26479306G>CCA425204753OTOFc.2172C>G (p.Arg724=)
c.2217C>G (p.Arg739=)
2g.26479306G>TCA425204754OTOFc.2172C>A (p.Arg724=)
c.2217C>A (p.Arg739=)
2g.26479307delCA2739274224OTOFc.2171del (p.Arg724ProfsTer19)
c.2216del (p.Arg739ProfsTer19)
 ClinVar
2g.26479307C>ACA346127433OTOFc.2171G>T (p.Arg724Leu)
c.2216G>T (p.Arg739Leu)
2g.26479307C=CA1239831956OTOFc.2171G= (p.Arg724=)
c.2216G= (p.Arg739=)
2g.26479307C>GCA346127435OTOFc.2171G>C (p.Arg724Pro)
c.2216G>C (p.Arg739Pro)
2g.26479307C>TCA1564044OTOFc.2171G>A (p.Arg724His)
c.2216G>A (p.Arg739His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479308G>ACA1564045OTOFc.2170C>T (p.Arg724Cys)
c.2215C>T (p.Arg739Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479308G>CCA346127438OTOFc.2170C>G (p.Arg724Gly)
c.2215C>G (p.Arg739Gly)
2g.26479308G=CA1239831959OTOFc.2170C= (p.Arg724=)
c.2215C= (p.Arg739=)
2g.26479308G>TCA346127441OTOFc.2170C>A (p.Arg724Ser)
c.2215C>A (p.Arg739Ser)
2g.26479309G>ACA425204756OTOFc.2169C>T (p.Arg723=)
c.2214C>T (p.Arg738=)
2g.26479309G>CCA425204757OTOFc.2169C>G (p.Arg723=)
c.2214C>G (p.Arg738=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479309G=CA1239831961OTOFc.2169C= (p.Arg723=)
c.2214C= (p.Arg738=)
2g.26479309G>TCA425204758OTOFc.2169C>A (p.Arg723=)
c.2214C>A (p.Arg738=)
2g.26479310C>ACA346127442OTOFc.2168G>T (p.Arg723Leu)
c.2213G>T (p.Arg738Leu)
 dbSNP
2g.26479310C=CA1239831966OTOFc.2168G= (p.Arg723=)
c.2213G= (p.Arg738=)
2g.26479310C>GCA346127445OTOFc.2168G>C (p.Arg723Pro)
c.2213G>C (p.Arg738Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26479310C>TCA1564046OTOFc.2168G>A (p.Arg723His)
c.2213G>A (p.Arg738His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479311G>ACA1564047OTOFc.2167C>T (p.Arg723Cys)
c.2212C>T (p.Arg738Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26479311G>CCA346127447OTOFc.2167C>G (p.Arg723Gly)
c.2212C>G (p.Arg738Gly)
2g.26479311G=CA1239831969OTOFc.2167C= (p.Arg723=)
c.2212C= (p.Arg738=)
2g.26479311G>TCA44400510OTOFc.2167C>A (p.Arg723Ser)
c.2212C>A (p.Arg738Ser)
 dbSNP
2g.26479312G>ACA425204761OTOFc.2166C>T (p.Arg722=)
c.2211C>T (p.Arg737=)
 gnomAD v4
2g.26479312G>CCA425204759OTOFc.2166C>G (p.Arg722=)
c.2211C>G (p.Arg737=)
2g.26479312G>TCA425204760OTOFc.2166C>A (p.Arg722=)
c.2211C>A (p.Arg737=)
2g.26479313C>ACA346127448OTOFc.2165G>T (p.Arg722Leu)
c.2210G>T (p.Arg737Leu)
2g.26479313C=CA1239831972OTOFc.2165G= (p.Arg722=)
c.2210G= (p.Arg737=)
2g.26479313C>GCA346127449OTOFc.2165G>C (p.Arg722Pro)
c.2210G>C (p.Arg737Pro)
 dbSNP
2g.26479313C>TCA1564048OTOFc.2165G>A (p.Arg722His)
c.2210G>A (p.Arg737His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479314G>ACA1564049OTOFc.2164C>T (p.Arg722Cys)
c.2209C>T (p.Arg737Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479314G>CCA346127450OTOFc.2164C>G (p.Arg722Gly)
c.2209C>G (p.Arg737Gly)
2g.26479314G=CA1239831974OTOFc.2164C= (p.Arg722=)
c.2209C= (p.Arg737=)
2g.26479314G>TCA346127451OTOFc.2164C>A (p.Arg722Ser)
c.2209C>A (p.Arg737Ser)
2g.26479315C>ACA1564050OTOFc.2163G>T (p.Gln721His)
c.2208G>T (p.Gln736His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479315C=CA1239831977OTOFc.2163G= (p.Gln721=)
c.2208G= (p.Gln736=)
2g.26479315C>GCA346127452OTOFc.2163G>C (p.Gln721His)
c.2208G>C (p.Gln736His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479315C>TCA425204762OTOFc.2163G>A (p.Gln721=)
c.2208G>A (p.Gln736=)
 gnomAD v4
2g.26479316T>ACA346127453OTOFc.2162A>T (p.Gln721Leu)
c.2207A>T (p.Gln736Leu)
2g.26479316T>CCA346127455OTOFc.2162A>G (p.Gln721Arg)
c.2207A>G (p.Gln736Arg)
2g.26479316T>GCA346127459OTOFc.2162A>C (p.Gln721Pro)
c.2207A>C (p.Gln736Pro)
2g.26479317G>ACA346127461OTOFc.2161C>T (p.Gln721Ter)
c.2206C>T (p.Gln736Ter)
2g.26479317G>CCA346127463OTOFc.2161C>G (p.Gln721Glu)
c.2206C>G (p.Gln736Glu)
2g.26479317G>TCA346127466OTOFc.2161C>A (p.Gln721Lys)
c.2206C>A (p.Gln736Lys)
 gnomAD v4
2g.26479317_26479318insCCTCTTGATCA2658237319OTOFc.2160_2161insATCAAGAGG (p.Asp720_Gln721insIleLysArg)
c.2205_2206insATCAAGAGG (p.Asp735_Gln736insIleLysArg)
 gnomAD v4
2g.26479318G>ACA425204763OTOFc.2160C>T (p.Asp720=)
c.2205C>T (p.Asp735=)
2g.26479318G>CCA346127468OTOFc.2160C>G (p.Asp720Glu)
c.2205C>G (p.Asp735Glu)
2g.26479318G=CA1239831979OTOFc.2160C= (p.Asp720=)
c.2205C= (p.Asp735=)
2g.26479318G>TCA346127470OTOFc.2160C>A (p.Asp720Glu)
c.2205C>A (p.Asp735Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26479319T>ACA346127474OTOFc.2159A>T (p.Asp720Val)
c.2204A>T (p.Asp735Val)
2g.26479319T>CCA346127478OTOFc.2159A>G (p.Asp720Gly)
c.2204A>G (p.Asp735Gly)
 dbSNP
2g.26479319T>GCA346127476OTOFc.2159A>C (p.Asp720Ala)
c.2204A>C (p.Asp735Ala)
2g.26479319T=CA1239831981OTOFc.2159A= (p.Asp720=)
c.2204A= (p.Asp735=)
2g.26479320C>ACA346127482OTOFc.2158G>T (p.Asp720Tyr)
c.2203G>T (p.Asp735Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.26479320C=CA1239831983OTOFc.2158G= (p.Asp720=)
c.2203G= (p.Asp735=)
2g.26479320C>GCA346127486OTOFc.2158G>C (p.Asp720His)
c.2203G>C (p.Asp735His)
2g.26479320C>TCA346127489OTOFc.2158G>A (p.Asp720Asn)
c.2203G>A (p.Asp735Asn)
 gnomAD v4
2g.26479321C>ACA425204764OTOFc.2157G>T (p.Pro719=)
c.2202G>T (p.Pro734=)
2g.26479321C=CA1239831985OTOFc.2157G= (p.Pro719=)
c.2202G= (p.Pro734=)
2g.26479321C>GCA425204765OTOFc.2157G>C (p.Pro719=)
c.2202G>C (p.Pro734=)
 ClinVar gnomAD v4 COSMIC
2g.26479321C>TCA1564051OTOFc.2157G>A (p.Pro719=)
c.2202G>A (p.Pro734=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479322G>ACA44400522OTOFc.2156C>T (p.Pro719Leu)
c.2201C>T (p.Pro734Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479322G>CCA346127494OTOFc.2156C>G (p.Pro719Arg)
c.2201C>G (p.Pro734Arg)
2g.26479322G=CA1239831989OTOFc.2156C= (p.Pro719=)
c.2201C= (p.Pro734=)
2g.26479322G>TCA346127497OTOFc.2156C>A (p.Pro719Gln)
c.2201C>A (p.Pro734Gln)
2g.26479323G>ACA346127501OTOFc.2155C>T (p.Pro719Ser)
c.2200C>T (p.Pro734Ser)
2g.26479323G>CCA346127503OTOFc.2155C>G (p.Pro719Ala)
c.2200C>G (p.Pro734Ala)
2g.26479323G=CA1239831991OTOFc.2155C= (p.Pro719=)
c.2200C= (p.Pro734=)
2g.26479323G>TCA1564052OTOFc.2155C>A (p.Pro719Thr)
c.2200C>A (p.Pro734Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26479324C>ACA346127512OTOFc.2154G>T (p.Trp718Cys)
c.2199G>T (p.Trp733Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.26479324C=CA1239831996OTOFc.2154G= (p.Trp718=)
c.2199G= (p.Trp733=)
2g.26479324C>GCA346127510OTOFc.2154G>C (p.Trp718Cys)
c.2199G>C (p.Trp733Cys)
2g.26479324C>TCA346127507OTOFc.2154G>A (p.Trp718Ter)
c.2199G>A (p.Trp733Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479325C>ACA346127515OTOFc.2153G>T (p.Trp718Leu)
c.2198G>T (p.Trp733Leu)
2g.26479325C=CA1239832001OTOFc.2153G= (p.Trp718=)
c.2198G= (p.Trp733=)
2g.26479325C>GCA346127517OTOFc.2153G>C (p.Trp718Ser)
c.2198G>C (p.Trp733Ser)
2g.26479325C>TCA262042OTOFc.2153G>A (p.Trp718Ter)
c.2198G>A (p.Trp733Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26479326A>CCA346127518OTOFc.2152T>G (p.Trp718Gly)
c.2197T>G (p.Trp733Gly)
 gnomAD v4
2g.26479326A>GCA346127520OTOFc.2152T>C (p.Trp718Arg)
c.2197T>C (p.Trp733Arg)
 gnomAD v4
2g.26479326A>TCA346127522OTOFc.2152T>A (p.Trp718Arg)
c.2197T>A (p.Trp733Arg)
2g.26479327C>ACA346127525OTOFc.2151G>T (p.Trp717Cys)
c.2196G>T (p.Trp732Cys)
2g.26479327C>GCA346127528OTOFc.2151G>C (p.Trp717Cys)
c.2196G>C (p.Trp732Cys)
2g.26479327C>TCA346127530OTOFc.2151G>A (p.Trp717Ter)
c.2196G>A (p.Trp732Ter)
2g.26479328C>ACA346127533OTOFc.2150G>T (p.Trp717Leu)
c.2195G>T (p.Trp732Leu)
2g.26479328C=CA1239832008OTOFc.2150G= (p.Trp717=)
c.2195G= (p.Trp732=)
2g.26479328C>GCA346127536OTOFc.2150G>C (p.Trp717Ser)
c.2195G>C (p.Trp732Ser)
2g.26479328C>TCA346127538OTOFc.2150G>A (p.Trp717Ter)
c.2195G>A (p.Trp732Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.26479329A>CCA346127545OTOFc.2149T>G (p.Trp717Gly)
c.2194T>G (p.Trp732Gly)
2g.26479329A>GCA346127547OTOFc.2149T>C (p.Trp717Arg)
c.2194T>C (p.Trp732Arg)
2g.26479329A>TCA346127542OTOFc.2149T>A (p.Trp717Arg)
c.2194T>A (p.Trp732Arg)
2g.26479330G>ACA44400527OTOFc.2148C>T (p.Ser716=)
c.2193C>T (p.Ser731=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26479330G>CCA346127551OTOFc.2148C>G (p.Ser716Arg)
c.2193C>G (p.Ser731Arg)
2g.26479330G=CA1239826240OTOFc.2148C= (p.Ser716=)
c.2193C= (p.Ser731=)
2g.26479330G>TCA346127552OTOFc.2148C>A (p.Ser716Arg)
c.2193C>A (p.Ser731Arg)
2g.26479331C>ACA346127557OTOFc.2147G>T (p.Ser716Ile)
c.2192G>T (p.Ser731Ile)
 gnomAD v4
2g.26479331C=CA1239826241OTOFc.2147G= (p.Ser716=)
c.2192G= (p.Ser731=)
2g.26479331C>GCA346127560OTOFc.2147G>C (p.Ser716Thr)
c.2192G>C (p.Ser731Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26479331C>TCA1564053OTOFc.2147G>A (p.Ser716Asn)
c.2192G>A (p.Ser731Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched