Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26467186C>ACA346136976OTOFc.4275G>T (p.Trp1425Cys)
c.1974G>T (p.Trp658Cys)
c.2034G>T (p.Trp678Cys)
c.2205G>T (p.Trp735Cys)
c.4260G>T (p.Trp1420Cys)
c.4320G>T (p.Trp1440Cys)
c.4215G>T (p.Trp1405Cys)
2g.26467186C=CA1239817986OTOFc.4275G= (p.Trp1425=)
c.1974G= (p.Trp658=)
c.2034G= (p.Trp678=)
c.2205G= (p.Trp735=)
c.4260G= (p.Trp1420=)
c.4320G= (p.Trp1440=)
c.4215G= (p.Trp1405=)
2g.26467186C>GCA346136977OTOFc.4275G>C (p.Trp1425Cys)
c.1974G>C (p.Trp658Cys)
c.2034G>C (p.Trp678Cys)
c.2205G>C (p.Trp735Cys)
c.4260G>C (p.Trp1420Cys)
c.4320G>C (p.Trp1440Cys)
c.4215G>C (p.Trp1405Cys)
2g.26467186C>TCA342570OTOFc.4275G>A (p.Trp1425Ter)
c.1974G>A (p.Trp658Ter)
c.2034G>A (p.Trp678Ter)
c.2205G>A (p.Trp735Ter)
c.4260G>A (p.Trp1420Ter)
c.4320G>A (p.Trp1440Ter)
c.4215G>A (p.Trp1405Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26467187C>ACA346136979OTOFc.4274G>T (p.Trp1425Leu)
c.1973G>T (p.Trp658Leu)
c.2033G>T (p.Trp678Leu)
c.2204G>T (p.Trp735Leu)
c.4259G>T (p.Trp1420Leu)
c.4319G>T (p.Trp1440Leu)
c.4214G>T (p.Trp1405Leu)
2g.26467187C>GCA346136981OTOFc.4274G>C (p.Trp1425Ser)
c.1973G>C (p.Trp658Ser)
c.2033G>C (p.Trp678Ser)
c.2204G>C (p.Trp735Ser)
c.4259G>C (p.Trp1420Ser)
c.4319G>C (p.Trp1440Ser)
c.4214G>C (p.Trp1405Ser)
2g.26467187C>TCA346136982OTOFc.4274G>A (p.Trp1425Ter)
c.1973G>A (p.Trp658Ter)
c.2033G>A (p.Trp678Ter)
c.2204G>A (p.Trp735Ter)
c.4259G>A (p.Trp1420Ter)
c.4319G>A (p.Trp1440Ter)
c.4214G>A (p.Trp1405Ter)
2g.26467188A>CCA346136984OTOFc.4273T>G (p.Trp1425Gly)
c.1972T>G (p.Trp658Gly)
c.2032T>G (p.Trp678Gly)
c.2203T>G (p.Trp735Gly)
c.4258T>G (p.Trp1420Gly)
c.4318T>G (p.Trp1440Gly)
c.4213T>G (p.Trp1405Gly)
2g.26467188A>GCA346136986OTOFc.4273T>C (p.Trp1425Arg)
c.1972T>C (p.Trp658Arg)
c.2032T>C (p.Trp678Arg)
c.2203T>C (p.Trp735Arg)
c.4258T>C (p.Trp1420Arg)
c.4318T>C (p.Trp1440Arg)
c.4213T>C (p.Trp1405Arg)
2g.26467188A>TCA346136987OTOFc.4273T>A (p.Trp1425Arg)
c.1972T>A (p.Trp658Arg)
c.2032T>A (p.Trp678Arg)
c.2203T>A (p.Trp735Arg)
c.4258T>A (p.Trp1420Arg)
c.4318T>A (p.Trp1440Arg)
c.4213T>A (p.Trp1405Arg)
2g.26467189G>ACA425359725OTOFc.4272C>T (p.Asp1424=)
c.1971C>T (p.Asp657=)
c.2031C>T (p.Asp677=)
c.2202C>T (p.Asp734=)
c.4257C>T (p.Asp1419=)
c.4317C>T (p.Asp1439=)
c.4212C>T (p.Asp1404=)
2g.26467189G>CCA346136988OTOFc.4272C>G (p.Asp1424Glu)
c.1971C>G (p.Asp657Glu)
c.2031C>G (p.Asp677Glu)
c.2202C>G (p.Asp734Glu)
c.4257C>G (p.Asp1419Glu)
c.4317C>G (p.Asp1439Glu)
c.4212C>G (p.Asp1404Glu)
2g.26467189G>TCA346136990OTOFc.4272C>A (p.Asp1424Glu)
c.1971C>A (p.Asp657Glu)
c.2031C>A (p.Asp677Glu)
c.2202C>A (p.Asp734Glu)
c.4257C>A (p.Asp1419Glu)
c.4317C>A (p.Asp1439Glu)
c.4212C>A (p.Asp1404Glu)
2g.26467190T>ACA346136995OTOFc.4271A>T (p.Asp1424Val)
c.1970A>T (p.Asp657Val)
c.2030A>T (p.Asp677Val)
c.2201A>T (p.Asp734Val)
c.4256A>T (p.Asp1419Val)
c.4316A>T (p.Asp1439Val)
c.4211A>T (p.Asp1404Val)
2g.26467190T>CCA346136993OTOFc.4271A>G (p.Asp1424Gly)
c.1970A>G (p.Asp657Gly)
c.2030A>G (p.Asp677Gly)
c.2201A>G (p.Asp734Gly)
c.4256A>G (p.Asp1419Gly)
c.4316A>G (p.Asp1439Gly)
c.4211A>G (p.Asp1404Gly)
2g.26467190T>GCA346136991OTOFc.4271A>C (p.Asp1424Ala)
c.1970A>C (p.Asp657Ala)
c.2030A>C (p.Asp677Ala)
c.2201A>C (p.Asp734Ala)
c.4256A>C (p.Asp1419Ala)
c.4316A>C (p.Asp1439Ala)
c.4211A>C (p.Asp1404Ala)
2g.26467191C>ACA346136996OTOFc.4270G>T (p.Asp1424Tyr)
c.1969G>T (p.Asp657Tyr)
c.2029G>T (p.Asp677Tyr)
c.2200G>T (p.Asp734Tyr)
c.4255G>T (p.Asp1419Tyr)
c.4315G>T (p.Asp1439Tyr)
c.4210G>T (p.Asp1404Tyr)
2g.26467191C=CA1239817992OTOFc.4270G= (p.Asp1424=)
c.1969G= (p.Asp657=)
c.2029G= (p.Asp677=)
c.2200G= (p.Asp734=)
c.4255G= (p.Asp1419=)
c.4315G= (p.Asp1439=)
c.4210G= (p.Asp1404=)
2g.26467191C>GCA346136997OTOFc.4270G>C (p.Asp1424His)
c.1969G>C (p.Asp657His)
c.2029G>C (p.Asp677His)
c.2200G>C (p.Asp734His)
c.4255G>C (p.Asp1419His)
c.4315G>C (p.Asp1439His)
c.4210G>C (p.Asp1404His)
 dbSNP gnomAD v3 gnomAD v4
2g.26467191C>TCA346136999OTOFc.4270G>A (p.Asp1424Asn)
c.1969G>A (p.Asp657Asn)
c.2029G>A (p.Asp677Asn)
c.2200G>A (p.Asp734Asn)
c.4255G>A (p.Asp1419Asn)
c.4315G>A (p.Asp1439Asn)
c.4210G>A (p.Asp1404Asn)
2g.26467192C>ACA346137000OTOFc.4269G>T (p.Glu1423Asp)
c.1968G>T (p.Glu656Asp)
c.2028G>T (p.Glu676Asp)
c.2199G>T (p.Glu733Asp)
c.4254G>T (p.Glu1418Asp)
c.4314G>T (p.Glu1438Asp)
c.4209G>T (p.Glu1403Asp)
2g.26467192C=CA1239817999OTOFc.4269G= (p.Glu1423=)
c.1968G= (p.Glu656=)
c.2028G= (p.Glu676=)
c.2199G= (p.Glu733=)
c.4254G= (p.Glu1418=)
c.4314G= (p.Glu1438=)
c.4209G= (p.Glu1403=)
2g.26467192C>GCA1563228OTOFc.4269G>C (p.Glu1423Asp)
c.1968G>C (p.Glu656Asp)
c.2028G>C (p.Glu676Asp)
c.2199G>C (p.Glu733Asp)
c.4254G>C (p.Glu1418Asp)
c.4314G>C (p.Glu1438Asp)
c.4209G>C (p.Glu1403Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467192C>TCA425359730OTOFc.4269G>A (p.Glu1423=)
c.1968G>A (p.Glu656=)
c.2028G>A (p.Glu676=)
c.2199G>A (p.Glu733=)
c.4254G>A (p.Glu1418=)
c.4314G>A (p.Glu1438=)
c.4209G>A (p.Glu1403=)
 dbSNP gnomAD v3 gnomAD v4
2g.26467193T>ACA346137002OTOFc.4268A>T (p.Glu1423Val)
c.1967A>T (p.Glu656Val)
c.2027A>T (p.Glu676Val)
c.2198A>T (p.Glu733Val)
c.4253A>T (p.Glu1418Val)
c.4313A>T (p.Glu1438Val)
c.4208A>T (p.Glu1403Val)
2g.26467193T>CCA346137003OTOFc.4268A>G (p.Glu1423Gly)
c.1967A>G (p.Glu656Gly)
c.2027A>G (p.Glu676Gly)
c.2198A>G (p.Glu733Gly)
c.4253A>G (p.Glu1418Gly)
c.4313A>G (p.Glu1438Gly)
c.4208A>G (p.Glu1403Gly)
2g.26467193T>GCA346137004OTOFc.4268A>C (p.Glu1423Ala)
c.1967A>C (p.Glu656Ala)
c.2027A>C (p.Glu676Ala)
c.2198A>C (p.Glu733Ala)
c.4253A>C (p.Glu1418Ala)
c.4313A>C (p.Glu1438Ala)
c.4208A>C (p.Glu1403Ala)
2g.26467194C>ACA346137005OTOFc.4267G>T (p.Glu1423Ter)
c.1966G>T (p.Glu656Ter)
c.2026G>T (p.Glu676Ter)
c.2197G>T (p.Glu733Ter)
c.4252G>T (p.Glu1418Ter)
c.4312G>T (p.Glu1438Ter)
c.4207G>T (p.Glu1403Ter)
2g.26467194C>GCA346137006OTOFc.4267G>C (p.Glu1423Gln)
c.1966G>C (p.Glu656Gln)
c.2026G>C (p.Glu676Gln)
c.2197G>C (p.Glu733Gln)
c.4252G>C (p.Glu1418Gln)
c.4312G>C (p.Glu1438Gln)
c.4207G>C (p.Glu1403Gln)
2g.26467194C>TCA346137007OTOFc.4267G>A (p.Glu1423Lys)
c.1966G>A (p.Glu656Lys)
c.2026G>A (p.Glu676Lys)
c.2197G>A (p.Glu733Lys)
c.4252G>A (p.Glu1418Lys)
c.4312G>A (p.Glu1438Lys)
c.4207G>A (p.Glu1403Lys)
2g.26467195A>CCA346137008OTOFc.4266T>G (p.Phe1422Leu)
c.1965T>G (p.Phe655Leu)
c.2025T>G (p.Phe675Leu)
c.2196T>G (p.Phe732Leu)
c.4251T>G (p.Phe1417Leu)
c.4311T>G (p.Phe1437Leu)
c.4206T>G (p.Phe1402Leu)
2g.26467195A>GCA425359735OTOFc.4266T>C (p.Phe1422=)
c.1965T>C (p.Phe655=)
c.2025T>C (p.Phe675=)
c.2196T>C (p.Phe732=)
c.4251T>C (p.Phe1417=)
c.4311T>C (p.Phe1437=)
c.4206T>C (p.Phe1402=)
2g.26467195A>TCA346137009OTOFc.4266T>A (p.Phe1422Leu)
c.1965T>A (p.Phe655Leu)
c.2025T>A (p.Phe675Leu)
c.2196T>A (p.Phe732Leu)
c.4251T>A (p.Phe1417Leu)
c.4311T>A (p.Phe1437Leu)
c.4206T>A (p.Phe1402Leu)
2g.26467196_26467197delCA2658234818OTOFc.4265_4266del (p.Phe1422Ter)
c.1964_1965del (p.Phe655Ter)
c.2024_2025del (p.Phe675Ter)
c.2195_2196del (p.Phe732Ter)
c.4250_4251del (p.Phe1417Ter)
c.4310_4311del (p.Phe1437Ter)
c.4205_4206del (p.Phe1402Ter)
 gnomAD v4
2g.26467196A>CCA346137011OTOFc.4265T>G (p.Phe1422Cys)
c.1964T>G (p.Phe655Cys)
c.2024T>G (p.Phe675Cys)
c.2195T>G (p.Phe732Cys)
c.4250T>G (p.Phe1417Cys)
c.4310T>G (p.Phe1437Cys)
c.4205T>G (p.Phe1402Cys)
2g.26467196A>GCA346137012OTOFc.4265T>C (p.Phe1422Ser)
c.1964T>C (p.Phe655Ser)
c.2024T>C (p.Phe675Ser)
c.2195T>C (p.Phe732Ser)
c.4250T>C (p.Phe1417Ser)
c.4310T>C (p.Phe1437Ser)
c.4205T>C (p.Phe1402Ser)
2g.26467196A>TCA346137010OTOFc.4265T>A (p.Phe1422Tyr)
c.1964T>A (p.Phe655Tyr)
c.2024T>A (p.Phe675Tyr)
c.2195T>A (p.Phe732Tyr)
c.4250T>A (p.Phe1417Tyr)
c.4310T>A (p.Phe1437Tyr)
c.4205T>A (p.Phe1402Tyr)
2g.26467196_26467199delinsAAGTCA1239818001OTOFc.4262_4265delinsACTT (p.Asn1421=)
c.1961_1964delinsACTT (p.Asn654=)
c.2021_2024delinsACTT (p.Asn674=)
c.2192_2195delinsACTT (p.Asn731=)
c.4247_4250delinsACTT (p.Asn1416=)
c.4307_4310delinsACTT (p.Asn1436=)
c.4202_4205delinsACTT (p.Asn1401=)
2g.26467197A>CCA346137013OTOFc.4264T>G (p.Phe1422Val)
c.1963T>G (p.Phe655Val)
c.2023T>G (p.Phe675Val)
c.2194T>G (p.Phe732Val)
c.4249T>G (p.Phe1417Val)
c.4309T>G (p.Phe1437Val)
c.4204T>G (p.Phe1402Val)
2g.26467197A>GCA346137014OTOFc.4264T>C (p.Phe1422Leu)
c.1963T>C (p.Phe655Leu)
c.2023T>C (p.Phe675Leu)
c.2194T>C (p.Phe732Leu)
c.4249T>C (p.Phe1417Leu)
c.4309T>C (p.Phe1437Leu)
c.4204T>C (p.Phe1402Leu)
2g.26467197A>TCA346137015OTOFc.4264T>A (p.Phe1422Ile)
c.1963T>A (p.Phe655Ile)
c.2023T>A (p.Phe675Ile)
c.2194T>A (p.Phe732Ile)
c.4249T>A (p.Phe1417Ile)
c.4309T>A (p.Phe1437Ile)
c.4204T>A (p.Phe1402Ile)
2g.26467197_26467199delCA531761723OTOFc.4262_4264del (p.Asn1421_Phe1422delinsIle)
c.1961_1963del (p.Asn654_Phe655delinsIle)
c.2021_2023del (p.Asn674_Phe675delinsIle)
c.2192_2194del (p.Asn731_Phe732delinsIle)
c.4247_4249del (p.Asn1416_Phe1417delinsIle)
c.4307_4309del (p.Asn1436_Phe1437delinsIle)
c.4202_4204del (p.Asn1401_Phe1402delinsIle)
 dbSNP gnomAD v2 gnomAD v4
2g.26467198G>ACA425359741OTOFc.4263C>T (p.Asn1421=)
c.1962C>T (p.Asn654=)
c.2022C>T (p.Asn674=)
c.2193C>T (p.Asn731=)
c.4248C>T (p.Asn1416=)
c.4308C>T (p.Asn1436=)
c.4203C>T (p.Asn1401=)
2g.26467198G>CCA346137016OTOFc.4263C>G (p.Asn1421Lys)
c.1962C>G (p.Asn654Lys)
c.2022C>G (p.Asn674Lys)
c.2193C>G (p.Asn731Lys)
c.4248C>G (p.Asn1416Lys)
c.4308C>G (p.Asn1436Lys)
c.4203C>G (p.Asn1401Lys)
2g.26467198G>TCA346137017OTOFc.4263C>A (p.Asn1421Lys)
c.1962C>A (p.Asn654Lys)
c.2022C>A (p.Asn674Lys)
c.2193C>A (p.Asn731Lys)
c.4248C>A (p.Asn1416Lys)
c.4308C>A (p.Asn1436Lys)
c.4203C>A (p.Asn1401Lys)
2g.26467199T>ACA346137018OTOFc.4262A>T (p.Asn1421Ile)
c.1961A>T (p.Asn654Ile)
c.2021A>T (p.Asn674Ile)
c.2192A>T (p.Asn731Ile)
c.4247A>T (p.Asn1416Ile)
c.4307A>T (p.Asn1436Ile)
c.4202A>T (p.Asn1401Ile)
2g.26467199T>CCA346137019OTOFc.4262A>G (p.Asn1421Ser)
c.1961A>G (p.Asn654Ser)
c.2021A>G (p.Asn674Ser)
c.2192A>G (p.Asn731Ser)
c.4247A>G (p.Asn1416Ser)
c.4307A>G (p.Asn1436Ser)
c.4202A>G (p.Asn1401Ser)
2g.26467199T>GCA346137020OTOFc.4262A>C (p.Asn1421Thr)
c.1961A>C (p.Asn654Thr)
c.2021A>C (p.Asn674Thr)
c.2192A>C (p.Asn731Thr)
c.4247A>C (p.Asn1416Thr)
c.4307A>C (p.Asn1436Thr)
c.4202A>C (p.Asn1401Thr)
2g.26467200T>ACA346137021OTOFc.4261A>T (p.Asn1421Tyr)
c.1960A>T (p.Asn654Tyr)
c.2020A>T (p.Asn674Tyr)
c.2191A>T (p.Asn731Tyr)
c.4246A>T (p.Asn1416Tyr)
c.4306A>T (p.Asn1436Tyr)
c.4201A>T (p.Asn1401Tyr)
2g.26467200T>CCA1563229OTOFc.4261A>G (p.Asn1421Asp)
c.1960A>G (p.Asn654Asp)
c.2020A>G (p.Asn674Asp)
c.2191A>G (p.Asn731Asp)
c.4246A>G (p.Asn1416Asp)
c.4306A>G (p.Asn1436Asp)
c.4201A>G (p.Asn1401Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467200T>GCA346137022OTOFc.4261A>C (p.Asn1421His)
c.1960A>C (p.Asn654His)
c.2020A>C (p.Asn674His)
c.2191A>C (p.Asn731His)
c.4246A>C (p.Asn1416His)
c.4306A>C (p.Asn1436His)
c.4201A>C (p.Asn1401His)
2g.26467200T=CA1239818006OTOFc.4261A= (p.Asn1421=)
c.1960A= (p.Asn654=)
c.2020A= (p.Asn674=)
c.2191A= (p.Asn731=)
c.4246A= (p.Asn1416=)
c.4306A= (p.Asn1436=)
c.4201A= (p.Asn1401=)
2g.26467201A=CA1239818010OTOFc.4260T= (p.Asp1420=)
c.1959T= (p.Asp653=)
c.2019T= (p.Asp673=)
c.2190T= (p.Asp730=)
c.4245T= (p.Asp1415=)
c.4305T= (p.Asp1435=)
c.4200T= (p.Asp1400=)
2g.26467201A>CCA346137024OTOFc.4260T>G (p.Asp1420Glu)
c.1959T>G (p.Asp653Glu)
c.2019T>G (p.Asp673Glu)
c.2190T>G (p.Asp730Glu)
c.4245T>G (p.Asp1415Glu)
c.4305T>G (p.Asp1435Glu)
c.4200T>G (p.Asp1400Glu)
2g.26467201A>GCA425359746OTOFc.4260T>C (p.Asp1420=)
c.1959T>C (p.Asp653=)
c.2019T>C (p.Asp673=)
c.2190T>C (p.Asp730=)
c.4245T>C (p.Asp1415=)
c.4305T>C (p.Asp1435=)
c.4200T>C (p.Asp1400=)
2g.26467201A>TCA346137025OTOFc.4260T>A (p.Asp1420Glu)
c.1959T>A (p.Asp653Glu)
c.2019T>A (p.Asp673Glu)
c.2190T>A (p.Asp730Glu)
c.4245T>A (p.Asp1415Glu)
c.4305T>A (p.Asp1435Glu)
c.4200T>A (p.Asp1400Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26467202T>ACA346137026OTOFc.4259A>T (p.Asp1420Val)
c.1958A>T (p.Asp653Val)
c.2018A>T (p.Asp673Val)
c.2189A>T (p.Asp730Val)
c.4244A>T (p.Asp1415Val)
c.4304A>T (p.Asp1435Val)
c.4199A>T (p.Asp1400Val)
2g.26467202T>CCA346137029OTOFc.4259A>G (p.Asp1420Gly)
c.1958A>G (p.Asp653Gly)
c.2018A>G (p.Asp673Gly)
c.2189A>G (p.Asp730Gly)
c.4244A>G (p.Asp1415Gly)
c.4304A>G (p.Asp1435Gly)
c.4199A>G (p.Asp1400Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.26467202T>GCA346137028OTOFc.4259A>C (p.Asp1420Ala)
c.1958A>C (p.Asp653Ala)
c.2018A>C (p.Asp673Ala)
c.2189A>C (p.Asp730Ala)
c.4244A>C (p.Asp1415Ala)
c.4304A>C (p.Asp1435Ala)
c.4199A>C (p.Asp1400Ala)
2g.26467202T=CA1239818014OTOFc.4259A= (p.Asp1420=)
c.1958A= (p.Asp653=)
c.2018A= (p.Asp673=)
c.2189A= (p.Asp730=)
c.4244A= (p.Asp1415=)
c.4304A= (p.Asp1435=)
c.4199A= (p.Asp1400=)
2g.26467203C>ACA346137031OTOFc.4258G>T (p.Asp1420Tyr)
c.1957G>T (p.Asp653Tyr)
c.2017G>T (p.Asp673Tyr)
c.2188G>T (p.Asp730Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4303G>T (p.Asp1435Tyr)
c.4198G>T (p.Asp1400Tyr)
2g.26467203C>GCA346137032OTOFc.4258G>C (p.Asp1420His)
c.1957G>C (p.Asp653His)
c.2017G>C (p.Asp673His)
c.2188G>C (p.Asp730His)
c.4243G>C (p.Asp1415His)
c.4303G>C (p.Asp1435His)
c.4198G>C (p.Asp1400His)
2g.26467203C>TCA346137033OTOFc.4258G>A (p.Asp1420Asn)
c.1957G>A (p.Asp653Asn)
c.2017G>A (p.Asp673Asn)
c.2188G>A (p.Asp730Asn)
c.4243G>A (p.Asp1415Asn)
c.4303G>A (p.Asp1435Asn)
c.4198G>A (p.Asp1400Asn)
2g.26467204A>CCA346137035OTOFc.4257T>G (p.Phe1419Leu)
c.1956T>G (p.Phe652Leu)
c.2016T>G (p.Phe672Leu)
c.2187T>G (p.Phe729Leu)
c.4242T>G (p.Phe1414Leu)
c.4302T>G (p.Phe1434Leu)
c.4197T>G (p.Phe1399Leu)
2g.26467204A>GCA425207335OTOFc.4257T>C (p.Phe1419=)
c.1956T>C (p.Phe652=)
c.2016T>C (p.Phe672=)
c.2187T>C (p.Phe729=)
c.4242T>C (p.Phe1414=)
c.4302T>C (p.Phe1434=)
c.4197T>C (p.Phe1399=)
2g.26467204A>TCA346137037OTOFc.4257T>A (p.Phe1419Leu)
c.1956T>A (p.Phe652Leu)
c.2016T>A (p.Phe672Leu)
c.2187T>A (p.Phe729Leu)
c.4242T>A (p.Phe1414Leu)
c.4302T>A (p.Phe1434Leu)
c.4197T>A (p.Phe1399Leu)
2g.26467205A=CA1239818016OTOFc.4256T= (p.Phe1419=)
c.1955T= (p.Phe652=)
c.2015T= (p.Phe672=)
c.2186T= (p.Phe729=)
c.4241T= (p.Phe1414=)
c.4301T= (p.Phe1434=)
c.4196T= (p.Phe1399=)
2g.26467205A>CCA346137038OTOFc.4256T>G (p.Phe1419Cys)
c.1955T>G (p.Phe652Cys)
c.2015T>G (p.Phe672Cys)
c.2186T>G (p.Phe729Cys)
c.4241T>G (p.Phe1414Cys)
c.4301T>G (p.Phe1434Cys)
c.4196T>G (p.Phe1399Cys)
2g.26467205A>GCA346137040OTOFc.4256T>C (p.Phe1419Ser)
c.1955T>C (p.Phe652Ser)
c.2015T>C (p.Phe672Ser)
c.2186T>C (p.Phe729Ser)
c.4241T>C (p.Phe1414Ser)
c.4301T>C (p.Phe1434Ser)
c.4196T>C (p.Phe1399Ser)
 dbSNP gnomAD v4
2g.26467205A>TCA346137041OTOFc.4256T>A (p.Phe1419Tyr)
c.1955T>A (p.Phe652Tyr)
c.2015T>A (p.Phe672Tyr)
c.2186T>A (p.Phe729Tyr)
c.4241T>A (p.Phe1414Tyr)
c.4301T>A (p.Phe1434Tyr)
c.4196T>A (p.Phe1399Tyr)
2g.26467206A>CCA346137043OTOFc.4255T>G (p.Phe1419Val)
c.1954T>G (p.Phe652Val)
c.2014T>G (p.Phe672Val)
c.2185T>G (p.Phe729Val)
c.4240T>G (p.Phe1414Val)
c.4300T>G (p.Phe1434Val)
c.4195T>G (p.Phe1399Val)
2g.26467206A>GCA346137045OTOFc.4255T>C (p.Phe1419Leu)
c.1954T>C (p.Phe652Leu)
c.2014T>C (p.Phe672Leu)
c.2185T>C (p.Phe729Leu)
c.4240T>C (p.Phe1414Leu)
c.4300T>C (p.Phe1434Leu)
c.4195T>C (p.Phe1399Leu)
2g.26467206A>TCA346137046OTOFc.4255T>A (p.Phe1419Ile)
c.1954T>A (p.Phe652Ile)
c.2014T>A (p.Phe672Ile)
c.2185T>A (p.Phe729Ile)
c.4240T>A (p.Phe1414Ile)
c.4300T>A (p.Phe1434Ile)
c.4195T>A (p.Phe1399Ile)
 COSMIC COSMIC COSMIC
2g.26467207C>ACA346137049OTOFc.4254G>T (p.Glu1418Asp)
c.1953G>T (p.Glu651Asp)
c.2013G>T (p.Glu671Asp)
c.2184G>T (p.Glu728Asp)
c.4239G>T (p.Glu1413Asp)
c.4299G>T (p.Glu1433Asp)
c.4194G>T (p.Glu1398Asp)
2g.26467207C>GCA346137048OTOFc.4254G>C (p.Glu1418Asp)
c.1953G>C (p.Glu651Asp)
c.2013G>C (p.Glu671Asp)
c.2184G>C (p.Glu728Asp)
c.4239G>C (p.Glu1413Asp)
c.4299G>C (p.Glu1433Asp)
c.4194G>C (p.Glu1398Asp)
 COSMIC COSMIC
2g.26467207C>TCA425207337OTOFc.4254G>A (p.Glu1418=)
c.1953G>A (p.Glu651=)
c.2013G>A (p.Glu671=)
c.2184G>A (p.Glu728=)
c.4239G>A (p.Glu1413=)
c.4299G>A (p.Glu1433=)
c.4194G>A (p.Glu1398=)
2g.26467208T>ACA346137050OTOFc.4253A>T (p.Glu1418Val)
c.1952A>T (p.Glu651Val)
c.2012A>T (p.Glu671Val)
c.2183A>T (p.Glu728Val)
c.4238A>T (p.Glu1413Val)
c.4298A>T (p.Glu1433Val)
c.4193A>T (p.Glu1398Val)
2g.26467208T>CCA346137052OTOFc.4253A>G (p.Glu1418Gly)
c.1952A>G (p.Glu651Gly)
c.2012A>G (p.Glu671Gly)
c.2183A>G (p.Glu728Gly)
c.4238A>G (p.Glu1413Gly)
c.4298A>G (p.Glu1433Gly)
c.4193A>G (p.Glu1398Gly)
2g.26467208T>GCA346137051OTOFc.4253A>C (p.Glu1418Ala)
c.1952A>C (p.Glu651Ala)
c.2012A>C (p.Glu671Ala)
c.2183A>C (p.Glu728Ala)
c.4238A>C (p.Glu1413Ala)
c.4298A>C (p.Glu1433Ala)
c.4193A>C (p.Glu1398Ala)
2g.26467209C>ACA346137054OTOFc.4252G>T (p.Glu1418Ter)
c.1951G>T (p.Glu651Ter)
c.2011G>T (p.Glu671Ter)
c.2182G>T (p.Glu728Ter)
c.4237G>T (p.Glu1413Ter)
c.4297G>T (p.Glu1433Ter)
c.4192G>T (p.Glu1398Ter)
2g.26467209C=CA1239818017OTOFc.4252G= (p.Glu1418=)
c.1951G= (p.Glu651=)
c.2011G= (p.Glu671=)
c.2182G= (p.Glu728=)
c.4237G= (p.Glu1413=)
c.4297G= (p.Glu1433=)
c.4192G= (p.Glu1398=)
2g.26467209C>GCA346137055OTOFc.4252G>C (p.Glu1418Gln)
c.1951G>C (p.Glu651Gln)
c.2011G>C (p.Glu671Gln)
c.2182G>C (p.Glu728Gln)
c.4237G>C (p.Glu1413Gln)
c.4297G>C (p.Glu1433Gln)
c.4192G>C (p.Glu1398Gln)
2g.26467209C>TCA1563230OTOFc.4252G>A (p.Glu1418Lys)
c.1951G>A (p.Glu651Lys)
c.2011G>A (p.Glu671Lys)
c.2182G>A (p.Glu728Lys)
c.4237G>A (p.Glu1413Lys)
c.4297G>A (p.Glu1433Lys)
c.4192G>A (p.Glu1398Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467210G>ACA1563231OTOFc.4251C>T (p.Ser1417=)
c.1950C>T (p.Ser650=)
c.2010C>T (p.Ser670=)
c.2181C>T (p.Ser727=)
c.4236C>T (p.Ser1412=)
c.4296C>T (p.Ser1432=)
c.4191C>T (p.Ser1397=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467210G>CCA425207341OTOFc.4251C>G (p.Ser1417=)
c.1950C>G (p.Ser650=)
c.2010C>G (p.Ser670=)
c.2181C>G (p.Ser727=)
c.4236C>G (p.Ser1412=)
c.4296C>G (p.Ser1432=)
c.4191C>G (p.Ser1397=)
2g.26467210G=CA1239818020OTOFc.4251C= (p.Ser1417=)
c.1950C= (p.Ser650=)
c.2010C= (p.Ser670=)
c.2181C= (p.Ser727=)
c.4236C= (p.Ser1412=)
c.4296C= (p.Ser1432=)
c.4191C= (p.Ser1397=)
2g.26467210G>TCA425207342OTOFc.4251C>A (p.Ser1417=)
c.1950C>A (p.Ser650=)
c.2010C>A (p.Ser670=)
c.2181C>A (p.Ser727=)
c.4236C>A (p.Ser1412=)
c.4296C>A (p.Ser1432=)
c.4191C>A (p.Ser1397=)
2g.26467211G>ACA346137057OTOFc.4250C>T (p.Ser1417Phe)
c.1949C>T (p.Ser650Phe)
c.2009C>T (p.Ser670Phe)
c.2180C>T (p.Ser727Phe)
c.4235C>T (p.Ser1412Phe)
c.4295C>T (p.Ser1432Phe)
c.4190C>T (p.Ser1397Phe)
2g.26467211G>CCA346137059OTOFc.4250C>G (p.Ser1417Cys)
c.1949C>G (p.Ser650Cys)
c.2009C>G (p.Ser670Cys)
c.2180C>G (p.Ser727Cys)
c.4235C>G (p.Ser1412Cys)
c.4295C>G (p.Ser1432Cys)
c.4190C>G (p.Ser1397Cys)
2g.26467211G>TCA346137061OTOFc.4250C>A (p.Ser1417Tyr)
c.1949C>A (p.Ser650Tyr)
c.2009C>A (p.Ser670Tyr)
c.2180C>A (p.Ser727Tyr)
c.4235C>A (p.Ser1412Tyr)
c.4295C>A (p.Ser1432Tyr)
c.4190C>A (p.Ser1397Tyr)
2g.26467211_26467212insCCA2586968800OTOFc.4249_4250insG (p.Ser1417CysfsTer4)
c.1948_1949insG (p.Ser650CysfsTer4)
c.2008_2009insG (p.Ser670CysfsTer4)
c.2179_2180insG (p.Ser727CysfsTer4)
c.4234_4235insG (p.Ser1412CysfsTer4)
c.4294_4295insG (p.Ser1432CysfsTer4)
c.4189_4190insG (p.Ser1397CysfsTer4)
2g.26467212A=CA1239818027OTOFc.4249T= (p.Ser1417=)
c.1948T= (p.Ser650=)
c.2008T= (p.Ser670=)
c.2179T= (p.Ser727=)
c.4234T= (p.Ser1412=)
c.4294T= (p.Ser1432=)
c.4189T= (p.Ser1397=)
2g.26467212A>CCA1563232OTOFc.4249T>G (p.Ser1417Ala)
c.1948T>G (p.Ser650Ala)
c.2008T>G (p.Ser670Ala)
c.2179T>G (p.Ser727Ala)
c.4234T>G (p.Ser1412Ala)
c.4294T>G (p.Ser1432Ala)
c.4189T>G (p.Ser1397Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467212A>GCA346137063OTOFc.4249T>C (p.Ser1417Pro)
c.1948T>C (p.Ser650Pro)
c.2008T>C (p.Ser670Pro)
c.2179T>C (p.Ser727Pro)
c.4234T>C (p.Ser1412Pro)
c.4294T>C (p.Ser1432Pro)
c.4189T>C (p.Ser1397Pro)
2g.26467212A>TCA346137064OTOFc.4249T>A (p.Ser1417Thr)
c.1948T>A (p.Ser650Thr)
c.2008T>A (p.Ser670Thr)
c.2179T>A (p.Ser727Thr)
c.4234T>A (p.Ser1412Thr)
c.4294T>A (p.Ser1432Thr)
c.4189T>A (p.Ser1397Thr)
2g.26467213C>ACA346137065OTOFc.4248G>T (p.Glu1416Asp)
c.1947G>T (p.Glu649Asp)
c.2007G>T (p.Glu669Asp)
c.2178G>T (p.Glu726Asp)
c.4233G>T (p.Glu1411Asp)
c.4293G>T (p.Glu1431Asp)
c.4188G>T (p.Glu1396Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.26467213C=CA1239818031OTOFc.4248G= (p.Glu1416=)
c.1947G= (p.Glu649=)
c.2007G= (p.Glu669=)
c.2178G= (p.Glu726=)
c.4233G= (p.Glu1411=)
c.4293G= (p.Glu1431=)
c.4188G= (p.Glu1396=)
2g.26467213C>GCA346137066OTOFc.4248G>C (p.Glu1416Asp)
c.1947G>C (p.Glu649Asp)
c.2007G>C (p.Glu669Asp)
c.2178G>C (p.Glu726Asp)
c.4233G>C (p.Glu1411Asp)
c.4293G>C (p.Glu1431Asp)
c.4188G>C (p.Glu1396Asp)
2g.26467213C>TCA425207343OTOFc.4248G>A (p.Glu1416=)
c.1947G>A (p.Glu649=)
c.2007G>A (p.Glu669=)
c.2178G>A (p.Glu726=)
c.4233G>A (p.Glu1411=)
c.4293G>A (p.Glu1431=)
c.4188G>A (p.Glu1396=)
2g.26467214T>ACA346137071OTOFc.4247A>T (p.Glu1416Val)
c.1946A>T (p.Glu649Val)
c.2006A>T (p.Glu669Val)
c.2177A>T (p.Glu726Val)
c.4232A>T (p.Glu1411Val)
c.4292A>T (p.Glu1431Val)
c.4187A>T (p.Glu1396Val)
2g.26467214T>CCA346137068OTOFc.4247A>G (p.Glu1416Gly)
c.1946A>G (p.Glu649Gly)
c.2006A>G (p.Glu669Gly)
c.2177A>G (p.Glu726Gly)
c.4232A>G (p.Glu1411Gly)
c.4292A>G (p.Glu1431Gly)
c.4187A>G (p.Glu1396Gly)
2g.26467214T>GCA346137069OTOFc.4247A>C (p.Glu1416Ala)
c.1946A>C (p.Glu649Ala)
c.2006A>C (p.Glu669Ala)
c.2177A>C (p.Glu726Ala)
c.4232A>C (p.Glu1411Ala)
c.4292A>C (p.Glu1431Ala)
c.4187A>C (p.Glu1396Ala)
2g.26467215C>ACA346137072OTOFc.4246G>T (p.Glu1416Ter)
c.1945G>T (p.Glu649Ter)
c.2005G>T (p.Glu669Ter)
c.2176G>T (p.Glu726Ter)
c.4231G>T (p.Glu1411Ter)
c.4291G>T (p.Glu1431Ter)
c.4186G>T (p.Glu1396Ter)
2g.26467215C=CA1239818033OTOFc.4246G= (p.Glu1416=)
c.1945G= (p.Glu649=)
c.2005G= (p.Glu669=)
c.2176G= (p.Glu726=)
c.4231G= (p.Glu1411=)
c.4291G= (p.Glu1431=)
c.4186G= (p.Glu1396=)
2g.26467215C>GCA346137073OTOFc.4246G>C (p.Glu1416Gln)
c.1945G>C (p.Glu649Gln)
c.2005G>C (p.Glu669Gln)
c.2176G>C (p.Glu726Gln)
c.4231G>C (p.Glu1411Gln)
c.4291G>C (p.Glu1431Gln)
c.4186G>C (p.Glu1396Gln)
 dbSNP
2g.26467215C>TCA346137074OTOFc.4246G>A (p.Glu1416Lys)
c.1945G>A (p.Glu649Lys)
c.2005G>A (p.Glu669Lys)
c.2176G>A (p.Glu726Lys)
c.4231G>A (p.Glu1411Lys)
c.4291G>A (p.Glu1431Lys)
c.4186G>A (p.Glu1396Lys)
2g.26467216C>ACA425207346OTOFc.4245G>T (p.Leu1415=)
c.1944G>T (p.Leu648=)
c.2004G>T (p.Leu668=)
c.2175G>T (p.Leu725=)
c.4230G>T (p.Leu1410=)
c.4290G>T (p.Leu1430=)
c.4185G>T (p.Leu1395=)
2g.26467216C=CA1239818037OTOFc.4245G= (p.Leu1415=)
c.1944G= (p.Leu648=)
c.2004G= (p.Leu668=)
c.2175G= (p.Leu725=)
c.4230G= (p.Leu1410=)
c.4290G= (p.Leu1430=)
c.4185G= (p.Leu1395=)
2g.26467216C>GCA425207347OTOFc.4245G>C (p.Leu1415=)
c.1944G>C (p.Leu648=)
c.2004G>C (p.Leu668=)
c.2175G>C (p.Leu725=)
c.4230G>C (p.Leu1410=)
c.4290G>C (p.Leu1430=)
c.4185G>C (p.Leu1395=)
2g.26467216C>TCA425207348OTOFc.4245G>A (p.Leu1415=)
c.1944G>A (p.Leu648=)
c.2004G>A (p.Leu668=)
c.2175G>A (p.Leu725=)
c.4230G>A (p.Leu1410=)
c.4290G>A (p.Leu1430=)
c.4185G>A (p.Leu1395=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26467217A>CCA346137075OTOFc.4244T>G (p.Leu1415Arg)
c.1943T>G (p.Leu648Arg)
c.2003T>G (p.Leu668Arg)
c.2174T>G (p.Leu725Arg)
c.4229T>G (p.Leu1410Arg)
c.4289T>G (p.Leu1430Arg)
c.4184T>G (p.Leu1395Arg)
2g.26467217A>GCA346137076OTOFc.4244T>C (p.Leu1415Pro)
c.1943T>C (p.Leu648Pro)
c.2003T>C (p.Leu668Pro)
c.2174T>C (p.Leu725Pro)
c.4229T>C (p.Leu1410Pro)
c.4289T>C (p.Leu1430Pro)
c.4184T>C (p.Leu1395Pro)
 gnomAD v4
2g.26467217A>TCA346137078OTOFc.4244T>A (p.Leu1415Gln)
c.1943T>A (p.Leu648Gln)
c.2003T>A (p.Leu668Gln)
c.2174T>A (p.Leu725Gln)
c.4229T>A (p.Leu1410Gln)
c.4289T>A (p.Leu1430Gln)
c.4184T>A (p.Leu1395Gln)
2g.26467218G>ACA1563233OTOFc.4243C>T (p.Leu1415=)
c.1942C>T (p.Leu648=)
c.2002C>T (p.Leu668=)
c.2173C>T (p.Leu725=)
c.4228C>T (p.Leu1410=)
c.4288C>T (p.Leu1430=)
c.4183C>T (p.Leu1395=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467218G>CCA346137080OTOFc.4243C>G (p.Leu1415Val)
c.1942C>G (p.Leu648Val)
c.2002C>G (p.Leu668Val)
c.2173C>G (p.Leu725Val)
c.4228C>G (p.Leu1410Val)
c.4288C>G (p.Leu1430Val)
c.4183C>G (p.Leu1395Val)
2g.26467218G=CA1239818039OTOFc.4243C= (p.Leu1415=)
c.1942C= (p.Leu648=)
c.2002C= (p.Leu668=)
c.2173C= (p.Leu725=)
c.4228C= (p.Leu1410=)
c.4288C= (p.Leu1430=)
c.4183C= (p.Leu1395=)
2g.26467218G>TCA346137081OTOFc.4243C>A (p.Leu1415Met)
c.1942C>A (p.Leu648Met)
c.2002C>A (p.Leu668Met)
c.2173C>A (p.Leu725Met)
c.4228C>A (p.Leu1410Met)
c.4288C>A (p.Leu1430Met)
c.4183C>A (p.Leu1395Met)
2g.26467219C>ACA346137083OTOFc.4242G>T (p.Glu1414Asp)
c.1941G>T (p.Glu647Asp)
c.2001G>T (p.Glu667Asp)
c.2172G>T (p.Glu724Asp)
c.4227G>T (p.Glu1409Asp)
c.4287G>T (p.Glu1429Asp)
c.4182G>T (p.Glu1394Asp)
2g.26467219C>GCA346137084OTOFc.4242G>C (p.Glu1414Asp)
c.1941G>C (p.Glu647Asp)
c.2001G>C (p.Glu667Asp)
c.2172G>C (p.Glu724Asp)
c.4227G>C (p.Glu1409Asp)
c.4287G>C (p.Glu1429Asp)
c.4182G>C (p.Glu1394Asp)
2g.26467219C>TCA425207351OTOFc.4242G>A (p.Glu1414=)
c.1941G>A (p.Glu647=)
c.2001G>A (p.Glu667=)
c.2172G>A (p.Glu724=)
c.4227G>A (p.Glu1409=)
c.4287G>A (p.Glu1429=)
c.4182G>A (p.Glu1394=)
2g.26467220T>ACA346137088OTOFc.4241A>T (p.Glu1414Val)
c.1940A>T (p.Glu647Val)
c.2000A>T (p.Glu667Val)
c.2171A>T (p.Glu724Val)
c.4226A>T (p.Glu1409Val)
c.4286A>T (p.Glu1429Val)
c.4181A>T (p.Glu1394Val)
2g.26467220T>CCA346137089OTOFc.4241A>G (p.Glu1414Gly)
c.1940A>G (p.Glu647Gly)
c.2000A>G (p.Glu667Gly)
c.2171A>G (p.Glu724Gly)
c.4226A>G (p.Glu1409Gly)
c.4286A>G (p.Glu1429Gly)
c.4181A>G (p.Glu1394Gly)
2g.26467220T>GCA346137086OTOFc.4241A>C (p.Glu1414Ala)
c.1940A>C (p.Glu647Ala)
c.2000A>C (p.Glu667Ala)
c.2171A>C (p.Glu724Ala)
c.4226A>C (p.Glu1409Ala)
c.4286A>C (p.Glu1429Ala)
c.4181A>C (p.Glu1394Ala)
2g.26467221C>ACA346137091OTOFc.4240G>T (p.Glu1414Ter)
c.1939G>T (p.Glu647Ter)
c.1999G>T (p.Glu667Ter)
c.2170G>T (p.Glu724Ter)
c.4225G>T (p.Glu1409Ter)
c.4285G>T (p.Glu1429Ter)
c.4180G>T (p.Glu1394Ter)
2g.26467221C>GCA346137092OTOFc.4240G>C (p.Glu1414Gln)
c.1939G>C (p.Glu647Gln)
c.1999G>C (p.Glu667Gln)
c.2170G>C (p.Glu724Gln)
c.4225G>C (p.Glu1409Gln)
c.4285G>C (p.Glu1429Gln)
c.4180G>C (p.Glu1394Gln)
2g.26467221C>TCA346137093OTOFc.4240G>A (p.Glu1414Lys)
c.1939G>A (p.Glu647Lys)
c.1999G>A (p.Glu667Lys)
c.2170G>A (p.Glu724Lys)
c.4225G>A (p.Glu1409Lys)
c.4285G>A (p.Glu1429Lys)
c.4180G>A (p.Glu1394Lys)
2g.26467222T>ACA346137095OTOFc.4239A>T (p.Lys1413Asn)
c.1938A>T (p.Lys646Asn)
c.1998A>T (p.Lys666Asn)
c.2169A>T (p.Lys723Asn)
c.4224A>T (p.Lys1408Asn)
c.4284A>T (p.Lys1428Asn)
c.4179A>T (p.Lys1393Asn)
2g.26467222T>CCA10613404OTOFc.4239A>G (p.Lys1413=)
c.1938A>G (p.Lys646=)
c.1998A>G (p.Lys666=)
c.2169A>G (p.Lys723=)
c.4224A>G (p.Lys1408=)
c.4284A>G (p.Lys1428=)
c.4179A>G (p.Lys1393=)
 ClinVar dbSNP
2g.26467222T>GCA346137097OTOFc.4239A>C (p.Lys1413Asn)
c.1938A>C (p.Lys646Asn)
c.1998A>C (p.Lys666Asn)
c.2169A>C (p.Lys723Asn)
c.4224A>C (p.Lys1408Asn)
c.4284A>C (p.Lys1428Asn)
c.4179A>C (p.Lys1393Asn)
2g.26467222T=CA1239818045OTOFc.4239A= (p.Lys1413=)
c.1938A= (p.Lys646=)
c.1998A= (p.Lys666=)
c.2169A= (p.Lys723=)
c.4224A= (p.Lys1408=)
c.4284A= (p.Lys1428=)
c.4179A= (p.Lys1393=)
2g.26467223T>ACA346137098OTOFc.4238A>T (p.Lys1413Ile)
c.1937A>T (p.Lys646Ile)
c.1997A>T (p.Lys666Ile)
c.2168A>T (p.Lys723Ile)
c.4223A>T (p.Lys1408Ile)
c.4283A>T (p.Lys1428Ile)
c.4178A>T (p.Lys1393Ile)
2g.26467223T>CCA346137100OTOFc.4238A>G (p.Lys1413Arg)
c.1937A>G (p.Lys646Arg)
c.1997A>G (p.Lys666Arg)
c.2168A>G (p.Lys723Arg)
c.4223A>G (p.Lys1408Arg)
c.4283A>G (p.Lys1428Arg)
c.4178A>G (p.Lys1393Arg)
2g.26467223T>GCA346137102OTOFc.4238A>C (p.Lys1413Thr)
c.1937A>C (p.Lys646Thr)
c.1997A>C (p.Lys666Thr)
c.2168A>C (p.Lys723Thr)
c.4223A>C (p.Lys1408Thr)
c.4283A>C (p.Lys1428Thr)
c.4178A>C (p.Lys1393Thr)
2g.26467224T>ACA346137103OTOFc.4237A>T (p.Lys1413Ter)
c.1936A>T (p.Lys646Ter)
c.1996A>T (p.Lys666Ter)
c.2167A>T (p.Lys723Ter)
c.4222A>T (p.Lys1408Ter)
c.4282A>T (p.Lys1428Ter)
c.4177A>T (p.Lys1393Ter)
2g.26467224T>CCA346137105OTOFc.4237A>G (p.Lys1413Glu)
c.1936A>G (p.Lys646Glu)
c.1996A>G (p.Lys666Glu)
c.2167A>G (p.Lys723Glu)
c.4222A>G (p.Lys1408Glu)
c.4282A>G (p.Lys1428Glu)
c.4177A>G (p.Lys1393Glu)
2g.26467224T>GCA346137106OTOFc.4237A>C (p.Lys1413Gln)
c.1936A>C (p.Lys646Gln)
c.1996A>C (p.Lys666Gln)
c.2167A>C (p.Lys723Gln)
c.4222A>C (p.Lys1408Gln)
c.4282A>C (p.Lys1428Gln)
c.4177A>C (p.Lys1393Gln)
2g.26467225G>ACA425207353OTOFc.4236C>T (p.Pro1412=)
c.1935C>T (p.Pro645=)
c.1995C>T (p.Pro665=)
c.2166C>T (p.Pro722=)
c.4221C>T (p.Pro1407=)
c.4281C>T (p.Pro1427=)
c.4176C>T (p.Pro1392=)
 gnomAD v4
2g.26467225G>CCA425207354OTOFc.4236C>G (p.Pro1412=)
c.1935C>G (p.Pro645=)
c.1995C>G (p.Pro665=)
c.2166C>G (p.Pro722=)
c.4221C>G (p.Pro1407=)
c.4281C>G (p.Pro1427=)
c.4176C>G (p.Pro1392=)
2g.26467225G>TCA425207355OTOFc.4236C>A (p.Pro1412=)
c.1935C>A (p.Pro645=)
c.1995C>A (p.Pro665=)
c.2166C>A (p.Pro722=)
c.4221C>A (p.Pro1407=)
c.4281C>A (p.Pro1427=)
c.4176C>A (p.Pro1392=)
2g.26467226G>ACA346137108OTOFc.4235C>T (p.Pro1412Leu)
c.1934C>T (p.Pro645Leu)
c.1994C>T (p.Pro665Leu)
c.2165C>T (p.Pro722Leu)
c.4220C>T (p.Pro1407Leu)
c.4280C>T (p.Pro1427Leu)
c.4175C>T (p.Pro1392Leu)
 dbSNP
2g.26467226G>CCA346137109OTOFc.4235C>G (p.Pro1412Arg)
c.1934C>G (p.Pro645Arg)
c.1994C>G (p.Pro665Arg)
c.2165C>G (p.Pro722Arg)
c.4220C>G (p.Pro1407Arg)
c.4280C>G (p.Pro1427Arg)
c.4175C>G (p.Pro1392Arg)
2g.26467226G=CA1239818213OTOFc.4235C= (p.Pro1412=)
c.1934C= (p.Pro645=)
c.1994C= (p.Pro665=)
c.2165C= (p.Pro722=)
c.4220C= (p.Pro1407=)
c.4280C= (p.Pro1427=)
c.4175C= (p.Pro1392=)
2g.26467226G>TCA346137107OTOFc.4235C>A (p.Pro1412His)
c.1934C>A (p.Pro645His)
c.1994C>A (p.Pro665His)
c.2165C>A (p.Pro722His)
c.4220C>A (p.Pro1407His)
c.4280C>A (p.Pro1427His)
c.4175C>A (p.Pro1392His)
2g.26467227G>ACA346137110OTOFc.4234C>T (p.Pro1412Ser)
c.1933C>T (p.Pro645Ser)
c.1993C>T (p.Pro665Ser)
c.2164C>T (p.Pro722Ser)
c.4219C>T (p.Pro1407Ser)
c.4279C>T (p.Pro1427Ser)
c.4174C>T (p.Pro1392Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26467227G>CCA346137112OTOFc.4234C>G (p.Pro1412Ala)
c.1933C>G (p.Pro645Ala)
c.1993C>G (p.Pro665Ala)
c.2164C>G (p.Pro722Ala)
c.4219C>G (p.Pro1407Ala)
c.4279C>G (p.Pro1427Ala)
c.4174C>G (p.Pro1392Ala)
2g.26467227G=CA1239818218OTOFc.4234C= (p.Pro1412=)
c.1933C= (p.Pro645=)
c.1993C= (p.Pro665=)
c.2164C= (p.Pro722=)
c.4219C= (p.Pro1407=)
c.4279C= (p.Pro1427=)
c.4174C= (p.Pro1392=)
2g.26467227G>TCA346137113OTOFc.4234C>A (p.Pro1412Thr)
c.1933C>A (p.Pro645Thr)
c.1993C>A (p.Pro665Thr)
c.2164C>A (p.Pro722Thr)
c.4219C>A (p.Pro1407Thr)
c.4279C>A (p.Pro1427Thr)
c.4174C>A (p.Pro1392Thr)
2g.26467228G>ACA425207357OTOFc.4233C>T (p.Tyr1411=)
c.1932C>T (p.Tyr644=)
c.1992C>T (p.Tyr664=)
c.2163C>T (p.Tyr721=)
c.4218C>T (p.Tyr1406=)
c.4278C>T (p.Tyr1426=)
c.4173C>T (p.Tyr1391=)
2g.26467228G>CCA346137115OTOFc.4233C>G (p.Tyr1411Ter)
c.1932C>G (p.Tyr644Ter)
c.1992C>G (p.Tyr664Ter)
c.2163C>G (p.Tyr721Ter)
c.4218C>G (p.Tyr1406Ter)
c.4278C>G (p.Tyr1426Ter)
c.4173C>G (p.Tyr1391Ter)
2g.26467228G>TCA346137116OTOFc.4233C>A (p.Tyr1411Ter)
c.1932C>A (p.Tyr644Ter)
c.1992C>A (p.Tyr664Ter)
c.2163C>A (p.Tyr721Ter)
c.4218C>A (p.Tyr1406Ter)
c.4278C>A (p.Tyr1426Ter)
c.4173C>A (p.Tyr1391Ter)
2g.26467229T>ACA346137119OTOFc.4232A>T (p.Tyr1411Phe)
c.1931A>T (p.Tyr644Phe)
c.1991A>T (p.Tyr664Phe)
c.2162A>T (p.Tyr721Phe)
c.4217A>T (p.Tyr1406Phe)
c.4277A>T (p.Tyr1426Phe)
c.4172A>T (p.Tyr1391Phe)
2g.26467229T>CCA346137118OTOFc.4232A>G (p.Tyr1411Cys)
c.1931A>G (p.Tyr644Cys)
c.1991A>G (p.Tyr664Cys)
c.2162A>G (p.Tyr721Cys)
c.4217A>G (p.Tyr1406Cys)
c.4277A>G (p.Tyr1426Cys)
c.4172A>G (p.Tyr1391Cys)
 gnomAD v4
2g.26467229T>GCA346137117OTOFc.4232A>C (p.Tyr1411Ser)
c.1931A>C (p.Tyr644Ser)
c.1991A>C (p.Tyr664Ser)
c.2162A>C (p.Tyr721Ser)
c.4217A>C (p.Tyr1406Ser)
c.4277A>C (p.Tyr1426Ser)
c.4172A>C (p.Tyr1391Ser)
2g.26467230A>CCA346137121OTOFc.4231T>G (p.Tyr1411Asp)
c.1930T>G (p.Tyr644Asp)
c.1990T>G (p.Tyr664Asp)
c.2161T>G (p.Tyr721Asp)
c.4216T>G (p.Tyr1406Asp)
c.4276T>G (p.Tyr1426Asp)
c.4171T>G (p.Tyr1391Asp)
2g.26467230A>GCA346137122OTOFc.4231T>C (p.Tyr1411His)
c.1930T>C (p.Tyr644His)
c.1990T>C (p.Tyr664His)
c.2161T>C (p.Tyr721His)
c.4216T>C (p.Tyr1406His)
c.4276T>C (p.Tyr1426His)
c.4171T>C (p.Tyr1391His)
2g.26467230A>TCA346137123OTOFc.4231T>A (p.Tyr1411Asn)
c.1930T>A (p.Tyr644Asn)
c.1990T>A (p.Tyr664Asn)
c.2161T>A (p.Tyr721Asn)
c.4216T>A (p.Tyr1406Asn)
c.4276T>A (p.Tyr1426Asn)
c.4171T>A (p.Tyr1391Asn)
2g.26467231T>ACA425207358OTOFc.4230A>T (p.Val1410=)
c.1929A>T (p.Val643=)
c.1989A>T (p.Val663=)
c.2160A>T (p.Val720=)
c.4215A>T (p.Val1405=)
c.4275A>T (p.Val1425=)
c.4170A>T (p.Val1390=)
2g.26467231T>CCA425207359OTOFc.4230A>G (p.Val1410=)
c.1929A>G (p.Val643=)
c.1989A>G (p.Val663=)
c.2160A>G (p.Val720=)
c.4215A>G (p.Val1405=)
c.4275A>G (p.Val1425=)
c.4170A>G (p.Val1390=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26467231T>GCA425207360OTOFc.4230A>C (p.Val1410=)
c.1929A>C (p.Val643=)
c.1989A>C (p.Val663=)
c.2160A>C (p.Val720=)
c.4215A>C (p.Val1405=)
c.4275A>C (p.Val1425=)
c.4170A>C (p.Val1390=)
2g.26467231T=CA1239818220OTOFc.4230A= (p.Val1410=)
c.1929A= (p.Val643=)
c.1989A= (p.Val663=)
c.2160A= (p.Val720=)
c.4215A= (p.Val1405=)
c.4275A= (p.Val1425=)
c.4170A= (p.Val1390=)
2g.26467232A=CA1239818225OTOFc.4229T= (p.Val1410=)
c.1928T= (p.Val643=)
c.1988T= (p.Val663=)
c.2159T= (p.Val720=)
c.4214T= (p.Val1405=)
c.4274T= (p.Val1425=)
c.4169T= (p.Val1390=)
2g.26467232A>CCA346137125OTOFc.4229T>G (p.Val1410Gly)
c.1928T>G (p.Val643Gly)
c.1988T>G (p.Val663Gly)
c.2159T>G (p.Val720Gly)
c.4214T>G (p.Val1405Gly)
c.4274T>G (p.Val1425Gly)
c.4169T>G (p.Val1390Gly)
2g.26467232A>GCA1563234OTOFc.4229T>C (p.Val1410Ala)
c.1928T>C (p.Val643Ala)
c.1988T>C (p.Val663Ala)
c.2159T>C (p.Val720Ala)
c.4214T>C (p.Val1405Ala)
c.4274T>C (p.Val1425Ala)
c.4169T>C (p.Val1390Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467232A>TCA346137127OTOFc.4229T>A (p.Val1410Glu)
c.1928T>A (p.Val643Glu)
c.1988T>A (p.Val663Glu)
c.2159T>A (p.Val720Glu)
c.4214T>A (p.Val1405Glu)
c.4274T>A (p.Val1425Glu)
c.4169T>A (p.Val1390Glu)
2g.26467233C>ACA346137129OTOFc.4228G>T (p.Val1410Leu)
c.1927G>T (p.Val643Leu)
c.1987G>T (p.Val663Leu)
c.2158G>T (p.Val720Leu)
c.4213G>T (p.Val1405Leu)
c.4273G>T (p.Val1425Leu)
c.4168G>T (p.Val1390Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26467233C=CA1239818230OTOFc.4228G= (p.Val1410=)
c.1927G= (p.Val643=)
c.1987G= (p.Val663=)
c.2158G= (p.Val720=)
c.4213G= (p.Val1405=)
c.4273G= (p.Val1425=)
c.4168G= (p.Val1390=)
2g.26467233C>GCA44413762OTOFc.4228G>C (p.Val1410Leu)
c.1927G>C (p.Val643Leu)
c.1987G>C (p.Val663Leu)
c.2158G>C (p.Val720Leu)
c.4213G>C (p.Val1405Leu)
c.4273G>C (p.Val1425Leu)
c.4168G>C (p.Val1390Leu)
 dbSNP gnomAD v4
2g.26467233C>TCA346137128OTOFc.4228G>A (p.Val1410Ile)
c.1927G>A (p.Val643Ile)
c.1987G>A (p.Val663Ile)
c.2158G>A (p.Val720Ile)
c.4213G>A (p.Val1405Ile)
c.4273G>A (p.Val1425Ile)
c.4168G>A (p.Val1390Ile)
 gnomAD v4
2g.26467234C>ACA44413767OTOFc.4228-1G>T (n.4228-1G>T)
c.1927-1G>T (n.1927-1G>T)
c.1987-1G>T (n.1987-1G>T)
c.2158-1G>T (n.2158-1G>T)
c.4213-1G>T (n.4213-1G>T)
c.4273-1G>T (n.4273-1G>T)
c.4168-1G>T (n.4168-1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26467234C=CA1239818239OTOFc.4228-1G= (n.4228-1G=)
c.1927-1G= (n.1927-1G=)
c.1987-1G= (n.1987-1G=)
c.2158-1G= (n.2158-1G=)
c.4213-1G= (n.4213-1G=)
c.4273-1G= (n.4273-1G=)
c.4168-1G= (n.4168-1G=)
2g.26467234C>GCA346137132OTOFc.4228-1G>C (n.4228-1G>C)
c.1927-1G>C (n.1927-1G>C)
c.1987-1G>C (n.1987-1G>C)
c.2158-1G>C (n.2158-1G>C)
c.4213-1G>C (n.4213-1G>C)
c.4273-1G>C (n.4273-1G>C)
c.4168-1G>C (n.4168-1G>C)
2g.26467234C>TCA262045OTOFc.4228-1G>A (n.4228-1G>A)
c.1927-1G>A (n.1927-1G>A)
c.1987-1G>A (n.1987-1G>A)
c.2158-1G>A (n.2158-1G>A)
c.4213-1G>A (n.4213-1G>A)
c.4273-1G>A (n.4273-1G>A)
c.4168-1G>A (n.4168-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26467235T>ACA346137133OTOFc.4228-2A>T (n.4228-2A>T)
c.1927-2A>T (n.1927-2A>T)
c.1987-2A>T (n.1987-2A>T)
c.2158-2A>T (n.2158-2A>T)
c.4213-2A>T (n.4213-2A>T)
c.4273-2A>T (n.4273-2A>T)
c.4168-2A>T (n.4168-2A>T)
2g.26467235T>CCA1563235OTOFc.4228-2A>G (n.4228-2A>G)
c.1927-2A>G (n.1927-2A>G)
c.1987-2A>G (n.1987-2A>G)
c.2158-2A>G (n.2158-2A>G)
c.4213-2A>G (n.4213-2A>G)
c.4273-2A>G (n.4273-2A>G)
c.4168-2A>G (n.4168-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467235T>GCA346137134OTOFc.4228-2A>C (n.4228-2A>C)
c.1927-2A>C (n.1927-2A>C)
c.1987-2A>C (n.1987-2A>C)
c.2158-2A>C (n.2158-2A>C)
c.4213-2A>C (n.4213-2A>C)
c.4273-2A>C (n.4273-2A>C)
c.4168-2A>C (n.4168-2A>C)
2g.26467235T=CA1239818247OTOFc.4228-2A= (n.4228-2A=)
c.1927-2A= (n.1927-2A=)
c.1987-2A= (n.1987-2A=)
c.2158-2A= (n.2158-2A=)
c.4213-2A= (n.4213-2A=)
c.4273-2A= (n.4273-2A=)
c.4168-2A= (n.4168-2A=)
2g.26467236G>ACA767270347OTOFc.4228-3C>T (n.4228-3C>T)
c.1927-3C>T (n.1927-3C>T)
c.1987-3C>T (n.1987-3C>T)
c.2158-3C>T (n.2158-3C>T)
c.4213-3C>T (n.4213-3C>T)
c.4273-3C>T (n.4273-3C>T)
c.4168-3C>T (n.4168-3C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.26467236G=CA1239818249OTOFc.4228-3C= (n.4228-3C=)
c.1927-3C= (n.1927-3C=)
c.1987-3C= (n.1987-3C=)
c.2158-3C= (n.2158-3C=)
c.4213-3C= (n.4213-3C=)
c.4273-3C= (n.4273-3C=)
c.4168-3C= (n.4168-3C=)
2g.26467237A>GCA2658234819OTOFc.4228-4T>C (n.4228-4T>C)
c.1927-4T>C (n.1927-4T>C)
c.1987-4T>C (n.1987-4T>C)
c.2158-4T>C (n.2158-4T>C)
c.4213-4T>C (n.4213-4T>C)
c.4273-4T>C (n.4273-4T>C)
c.4168-4T>C (n.4168-4T>C)
 gnomAD v4
2g.26467239A>CCA2698918653OTOFc.4228-6T>G (n.4228-6T>G)
c.1927-6T>G (n.1927-6T>G)
c.1987-6T>G (n.1987-6T>G)
c.2158-6T>G (n.2158-6T>G)
c.4213-6T>G (n.4213-6T>G)
c.4273-6T>G (n.4273-6T>G)
c.4168-6T>G (n.4168-6T>G)
 dbSNP
2g.26467240C>GCA2658234820OTOFc.4228-7G>C (n.4228-7G>C)
c.1927-7G>C (n.1927-7G>C)
c.1987-7G>C (n.1987-7G>C)
c.2158-7G>C (n.2158-7G>C)
c.4213-7G>C (n.4213-7G>C)
c.4273-7G>C (n.4273-7G>C)
c.4168-7G>C (n.4168-7G>C)
 gnomAD v4
2g.26467240C>TCA2658234821OTOFc.4228-7G>A (n.4228-7G>A)
c.1927-7G>A (n.1927-7G>A)
c.1987-7G>A (n.1987-7G>A)
c.2158-7G>A (n.2158-7G>A)
c.4213-7G>A (n.4213-7G>A)
c.4273-7G>A (n.4273-7G>A)
c.4168-7G>A (n.4168-7G>A)
 gnomAD v4
2g.26467242G>ACA1239818252OTOFc.4228-9C>T (n.4228-9C>T)
c.1927-9C>T (n.1927-9C>T)
c.1987-9C>T (n.1987-9C>T)
c.2158-9C>T (n.2158-9C>T)
c.4213-9C>T (n.4213-9C>T)
c.4273-9C>T (n.4273-9C>T)
c.4168-9C>T (n.4168-9C>T)
 dbSNP
2g.26467242G=CA1239818253OTOFc.4228-9C= (n.4228-9C=)
c.1927-9C= (n.1927-9C=)
c.1987-9C= (n.1987-9C=)
c.2158-9C= (n.2158-9C=)
c.4213-9C= (n.4213-9C=)
c.4273-9C= (n.4273-9C=)
c.4168-9C= (n.4168-9C=)
2g.26467244C=CA1239818255OTOFc.4228-11G= (n.4228-11G=)
c.1927-11G= (n.1927-11G=)
c.1987-11G= (n.1987-11G=)
c.2158-11G= (n.2158-11G=)
c.4213-11G= (n.4213-11G=)
c.4273-11G= (n.4273-11G=)
c.4168-11G= (n.4168-11G=)
2g.26467244C>TCA44413787OTOFc.4228-11G>A (n.4228-11G>A)
c.1927-11G>A (n.1927-11G>A)
c.1987-11G>A (n.1987-11G>A)
c.2158-11G>A (n.2158-11G>A)
c.4213-11G>A (n.4213-11G>A)
c.4273-11G>A (n.4273-11G>A)
c.4168-11G>A (n.4168-11G>A)
 dbSNP
2g.26467245C=CA1239818257OTOFc.4228-12G= (n.4228-12G=)
c.1927-12G= (n.1927-12G=)
c.1987-12G= (n.1987-12G=)
c.2158-12G= (n.2158-12G=)
c.4213-12G= (n.4213-12G=)
c.4273-12G= (n.4273-12G=)
c.4168-12G= (n.4168-12G=)
2g.26467245C>TCA531761798OTOFc.4228-12G>A (n.4228-12G>A)
c.1927-12G>A (n.1927-12G>A)
c.1987-12G>A (n.1987-12G>A)
c.2158-12G>A (n.2158-12G>A)
c.4213-12G>A (n.4213-12G>A)
c.4273-12G>A (n.4273-12G>A)
c.4168-12G>A (n.4168-12G>A)
 dbSNP gnomAD v2
2g.26467246A>GCA2658234822OTOFc.4228-13T>C (n.4228-13T>C)
c.1927-13T>C (n.1927-13T>C)
c.1987-13T>C (n.1987-13T>C)
c.2158-13T>C (n.2158-13T>C)
c.4213-13T>C (n.4213-13T>C)
c.4273-13T>C (n.4273-13T>C)
c.4168-13T>C (n.4168-13T>C)
 gnomAD v4
2g.26467247G>ACA44413798OTOFc.4228-14C>T (n.4228-14C>T)
c.1927-14C>T (n.1927-14C>T)
c.1987-14C>T (n.1987-14C>T)
c.2158-14C>T (n.2158-14C>T)
c.4213-14C>T (n.4213-14C>T)
c.4273-14C>T (n.4273-14C>T)
c.4168-14C>T (n.4168-14C>T)
 dbSNP
2g.26467247G>CCA2658234823OTOFc.4228-14C>G (n.4228-14C>G)
c.1927-14C>G (n.1927-14C>G)
c.1987-14C>G (n.1987-14C>G)
c.2158-14C>G (n.2158-14C>G)
c.4213-14C>G (n.4213-14C>G)
c.4273-14C>G (n.4273-14C>G)
c.4168-14C>G (n.4168-14C>G)
 gnomAD v4
2g.26467247G=CA1239818259OTOFc.4228-14C= (n.4228-14C=)
c.1927-14C= (n.1927-14C=)
c.1987-14C= (n.1987-14C=)
c.2158-14C= (n.2158-14C=)
c.4213-14C= (n.4213-14C=)
c.4273-14C= (n.4273-14C=)
c.4168-14C= (n.4168-14C=)
2g.26467248G>ACA767270352OTOFc.4228-15C>T (n.4228-15C>T)
c.1927-15C>T (n.1927-15C>T)
c.1987-15C>T (n.1987-15C>T)
c.2158-15C>T (n.2158-15C>T)
c.4213-15C>T (n.4213-15C>T)
c.4273-15C>T (n.4273-15C>T)
c.4168-15C>T (n.4168-15C>T)
 dbSNP gnomAD v4
2g.26467248G>CCA2697547942OTOFc.4228-15C>G (n.4228-15C>G)
c.1927-15C>G (n.1927-15C>G)
c.1987-15C>G (n.1987-15C>G)
c.2158-15C>G (n.2158-15C>G)
c.4213-15C>G (n.4213-15C>G)
c.4273-15C>G (n.4273-15C>G)
c.4168-15C>G (n.4168-15C>G)
 ClinVar
2g.26467248G=CA1239818260OTOFc.4228-15C= (n.4228-15C=)
c.1927-15C= (n.1927-15C=)
c.1987-15C= (n.1987-15C=)
c.2158-15C= (n.2158-15C=)
c.4213-15C= (n.4213-15C=)
c.4273-15C= (n.4273-15C=)
c.4168-15C= (n.4168-15C=)
2g.26467250T>CCA767270355OTOFc.4228-17A>G (n.4228-17A>G)
c.1927-17A>G (n.1927-17A>G)
c.1987-17A>G (n.1987-17A>G)
c.2158-17A>G (n.2158-17A>G)
c.4213-17A>G (n.4213-17A>G)
c.4273-17A>G (n.4273-17A>G)
c.4168-17A>G (n.4168-17A>G)
 dbSNP
2g.26467250T>GCA2658234824OTOFc.4228-17A>C (n.4228-17A>C)
c.1927-17A>C (n.1927-17A>C)
c.1987-17A>C (n.1987-17A>C)
c.2158-17A>C (n.2158-17A>C)
c.4213-17A>C (n.4213-17A>C)
c.4273-17A>C (n.4273-17A>C)
c.4168-17A>C (n.4168-17A>C)
 gnomAD v4
2g.26467250T=CA1239818261OTOFc.4228-17A= (n.4228-17A=)
c.1927-17A= (n.1927-17A=)
c.1987-17A= (n.1987-17A=)
c.2158-17A= (n.2158-17A=)
c.4213-17A= (n.4213-17A=)
c.4273-17A= (n.4273-17A=)
c.4168-17A= (n.4168-17A=)
2g.26467251G>CCA2658234825OTOFc.4228-18C>G (n.4228-18C>G)
c.1927-18C>G (n.1927-18C>G)
c.1987-18C>G (n.1987-18C>G)
c.2158-18C>G (n.2158-18C>G)
c.4213-18C>G (n.4213-18C>G)
c.4273-18C>G (n.4273-18C>G)
c.4168-18C>G (n.4168-18C>G)
 gnomAD v4
2g.26467253T>CCA2658234826OTOFc.4228-20A>G (n.4228-20A>G)
c.1927-20A>G (n.1927-20A>G)
c.1987-20A>G (n.1987-20A>G)
c.2158-20A>G (n.2158-20A>G)
c.4213-20A>G (n.4213-20A>G)
c.4273-20A>G (n.4273-20A>G)
c.4168-20A>G (n.4168-20A>G)
 gnomAD v4
2g.26467254A>TCA2576699120OTOFc.4228-21T>A (n.4228-21T>A)
c.1927-21T>A (n.1927-21T>A)
c.1987-21T>A (n.1987-21T>A)
c.2158-21T>A (n.2158-21T>A)
c.4213-21T>A (n.4213-21T>A)
c.4273-21T>A (n.4273-21T>A)
c.4168-21T>A (n.4168-21T>A)
2g.26467254dupCA2576699121OTOFc.4228-21dup (n.4228-21dup)
c.1927-21dup (n.1927-21dup)
c.1987-21dup (n.1987-21dup)
c.2158-21dup (n.2158-21dup)
c.4213-21dup (n.4213-21dup)
c.4273-21dup (n.4273-21dup)
c.4168-21dup (n.4168-21dup)
2g.26467256G>ACA2576699122OTOFc.4228-23C>T (n.4228-23C>T)
c.1927-23C>T (n.1927-23C>T)
c.1987-23C>T (n.1987-23C>T)
c.2158-23C>T (n.2158-23C>T)
c.4213-23C>T (n.4213-23C>T)
c.4273-23C>T (n.4273-23C>T)
c.4168-23C>T (n.4168-23C>T)
 gnomAD v4
2g.26467256G>CCA1563236OTOFc.4228-23C>G (n.4228-23C>G)
c.1927-23C>G (n.1927-23C>G)
c.1987-23C>G (n.1987-23C>G)
c.2158-23C>G (n.2158-23C>G)
c.4213-23C>G (n.4213-23C>G)
c.4273-23C>G (n.4273-23C>G)
c.4168-23C>G (n.4168-23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467256G=CA1239818263OTOFc.4228-23C= (n.4228-23C=)
c.1927-23C= (n.1927-23C=)
c.1987-23C= (n.1987-23C=)
c.2158-23C= (n.2158-23C=)
c.4213-23C= (n.4213-23C=)
c.4273-23C= (n.4273-23C=)
c.4168-23C= (n.4168-23C=)
2g.26467258G>ACA2658234827OTOFc.4228-25C>T (n.4228-25C>T)
c.1927-25C>T (n.1927-25C>T)
c.1987-25C>T (n.1987-25C>T)
c.2158-25C>T (n.2158-25C>T)
c.4213-25C>T (n.4213-25C>T)
c.4273-25C>T (n.4273-25C>T)
c.4168-25C>T (n.4168-25C>T)
 gnomAD v4
2g.26467258G=CA1239818265OTOFc.4228-25C= (n.4228-25C=)
c.1927-25C= (n.1927-25C=)
c.1987-25C= (n.1987-25C=)
c.2158-25C= (n.2158-25C=)
c.4213-25C= (n.4213-25C=)
c.4273-25C= (n.4273-25C=)
c.4168-25C= (n.4168-25C=)
2g.26467258G>TCA767270361OTOFc.4228-25C>A (n.4228-25C>A)
c.1927-25C>A (n.1927-25C>A)
c.1987-25C>A (n.1987-25C>A)
c.2158-25C>A (n.2158-25C>A)
c.4213-25C>A (n.4213-25C>A)
c.4273-25C>A (n.4273-25C>A)
c.4168-25C>A (n.4168-25C>A)
 dbSNP
2g.26467259G=CA1239818268OTOFc.4228-26C= (n.4228-26C=)
c.1927-26C= (n.1927-26C=)
c.1987-26C= (n.1987-26C=)
c.2158-26C= (n.2158-26C=)
c.4213-26C= (n.4213-26C=)
c.4273-26C= (n.4273-26C=)
c.4168-26C= (n.4168-26C=)
2g.26467259G>TCA1563237OTOFc.4228-26C>A (n.4228-26C>A)
c.1927-26C>A (n.1927-26C>A)
c.1987-26C>A (n.1987-26C>A)
c.2158-26C>A (n.2158-26C>A)
c.4213-26C>A (n.4213-26C>A)
c.4273-26C>A (n.4273-26C>A)
c.4168-26C>A (n.4168-26C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467260C=CA1239818269OTOFc.4228-27G= (n.4228-27G=)
c.1927-27G= (n.1927-27G=)
c.1987-27G= (n.1987-27G=)
c.2158-27G= (n.2158-27G=)
c.4213-27G= (n.4213-27G=)
c.4273-27G= (n.4273-27G=)
c.4168-27G= (n.4168-27G=)
2g.26467260C>TCA1563238OTOFc.4228-27G>A (n.4228-27G>A)
c.1927-27G>A (n.1927-27G>A)
c.1987-27G>A (n.1987-27G>A)
c.2158-27G>A (n.2158-27G>A)
c.4213-27G>A (n.4213-27G>A)
c.4273-27G>A (n.4273-27G>A)
c.4168-27G>A (n.4168-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467261G>ACA531761799OTOFc.4228-28C>T (n.4228-28C>T)
c.1927-28C>T (n.1927-28C>T)
c.1987-28C>T (n.1987-28C>T)
c.2158-28C>T (n.2158-28C>T)
c.4213-28C>T (n.4213-28C>T)
c.4273-28C>T (n.4273-28C>T)
c.4168-28C>T (n.4168-28C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26467261G=CA1239818272OTOFc.4228-28C= (n.4228-28C=)
c.1927-28C= (n.1927-28C=)
c.1987-28C= (n.1987-28C=)
c.2158-28C= (n.2158-28C=)
c.4213-28C= (n.4213-28C=)
c.4273-28C= (n.4273-28C=)
c.4168-28C= (n.4168-28C=)
2g.26467261G>TCA2658234828OTOFc.4228-28C>A (n.4228-28C>A)
c.1927-28C>A (n.1927-28C>A)
c.1987-28C>A (n.1987-28C>A)
c.2158-28C>A (n.2158-28C>A)
c.4213-28C>A (n.4213-28C>A)
c.4273-28C>A (n.4273-28C>A)
c.4168-28C>A (n.4168-28C>A)
 gnomAD v4
2g.26467262G>TCA2658234829OTOFc.4228-29C>A (n.4228-29C>A)
c.1927-29C>A (n.1927-29C>A)
c.1987-29C>A (n.1987-29C>A)
c.2158-29C>A (n.2158-29C>A)
c.4213-29C>A (n.4213-29C>A)
c.4273-29C>A (n.4273-29C>A)
c.4168-29C>A (n.4168-29C>A)
 gnomAD v4
2g.26467263C>ACA767270369OTOFc.4228-30G>T (n.4228-30G>T)
c.1927-30G>T (n.1927-30G>T)
c.1987-30G>T (n.1987-30G>T)
c.2158-30G>T (n.2158-30G>T)
c.4213-30G>T (n.4213-30G>T)
c.4273-30G>T (n.4273-30G>T)
c.4168-30G>T (n.4168-30G>T)
 dbSNP gnomAD v4
2g.26467263C=CA1239818274OTOFc.4228-30G= (n.4228-30G=)
c.1927-30G= (n.1927-30G=)
c.1987-30G= (n.1987-30G=)
c.2158-30G= (n.2158-30G=)
c.4213-30G= (n.4213-30G=)
c.4273-30G= (n.4273-30G=)
c.4168-30G= (n.4168-30G=)
2g.26467263C>TCA2658234830OTOFc.4228-30G>A (n.4228-30G>A)
c.1927-30G>A (n.1927-30G>A)
c.1987-30G>A (n.1987-30G>A)
c.2158-30G>A (n.2158-30G>A)
c.4213-30G>A (n.4213-30G>A)
c.4273-30G>A (n.4273-30G>A)
c.4168-30G>A (n.4168-30G>A)
 gnomAD v4
2g.26467264T>CCA1563239OTOFc.4228-31A>G (n.4228-31A>G)
c.1927-31A>G (n.1927-31A>G)
c.1987-31A>G (n.1987-31A>G)
c.2158-31A>G (n.2158-31A>G)
c.4213-31A>G (n.4213-31A>G)
c.4273-31A>G (n.4273-31A>G)
c.4168-31A>G (n.4168-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467264T=CA1239818276OTOFc.4228-31A= (n.4228-31A=)
c.1927-31A= (n.1927-31A=)
c.1987-31A= (n.1987-31A=)
c.2158-31A= (n.2158-31A=)
c.4213-31A= (n.4213-31A=)
c.4273-31A= (n.4273-31A=)
c.4168-31A= (n.4168-31A=)
2g.26467265G>ACA2658234831OTOFc.4228-32C>T (n.4228-32C>T)
c.1927-32C>T (n.1927-32C>T)
c.1987-32C>T (n.1987-32C>T)
c.2158-32C>T (n.2158-32C>T)
c.4213-32C>T (n.4213-32C>T)
c.4273-32C>T (n.4273-32C>T)
c.4168-32C>T (n.4168-32C>T)
 gnomAD v4
2g.26467265G=CA1239818278OTOFc.4228-32C= (n.4228-32C=)
c.1927-32C= (n.1927-32C=)
c.1987-32C= (n.1987-32C=)
c.2158-32C= (n.2158-32C=)
c.4213-32C= (n.4213-32C=)
c.4273-32C= (n.4273-32C=)
c.4168-32C= (n.4168-32C=)
2g.26467265G>TCA1563240OTOFc.4228-32C>A (n.4228-32C>A)
c.1927-32C>A (n.1927-32C>A)
c.1987-32C>A (n.1987-32C>A)
c.2158-32C>A (n.2158-32C>A)
c.4213-32C>A (n.4213-32C>A)
c.4273-32C>A (n.4273-32C>A)
c.4168-32C>A (n.4168-32C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467266C=CA1239818281OTOFc.4228-33G= (n.4228-33G=)
c.1927-33G= (n.1927-33G=)
c.1987-33G= (n.1987-33G=)
c.2158-33G= (n.2158-33G=)
c.4213-33G= (n.4213-33G=)
c.4273-33G= (n.4273-33G=)
c.4168-33G= (n.4168-33G=)
2g.26467266C>TCA767270377OTOFc.4228-33G>A (n.4228-33G>A)
c.1927-33G>A (n.1927-33G>A)
c.1987-33G>A (n.1987-33G>A)
c.2158-33G>A (n.2158-33G>A)
c.4213-33G>A (n.4213-33G>A)
c.4273-33G>A (n.4273-33G>A)
c.4168-33G>A (n.4168-33G>A)
 dbSNP
2g.26467268T>CCA531761800OTOFc.4228-35A>G (n.4228-35A>G)
c.1927-35A>G (n.1927-35A>G)
c.1987-35A>G (n.1987-35A>G)
c.2158-35A>G (n.2158-35A>G)
c.4213-35A>G (n.4213-35A>G)
c.4273-35A>G (n.4273-35A>G)
c.4168-35A>G (n.4168-35A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.26467268T=CA1239818283OTOFc.4228-35A= (n.4228-35A=)
c.1927-35A= (n.1927-35A=)
c.1987-35A= (n.1987-35A=)
c.2158-35A= (n.2158-35A=)
c.4213-35A= (n.4213-35A=)
c.4273-35A= (n.4273-35A=)
c.4168-35A= (n.4168-35A=)
2g.26467269G>ACA2658234832OTOFc.4228-36C>T (n.4228-36C>T)
c.1927-36C>T (n.1927-36C>T)
c.1987-36C>T (n.1987-36C>T)
c.2158-36C>T (n.2158-36C>T)
c.4213-36C>T (n.4213-36C>T)
c.4273-36C>T (n.4273-36C>T)
c.4168-36C>T (n.4168-36C>T)
 gnomAD v4
2g.26467269G>CCA1563241OTOFc.4228-36C>G (n.4228-36C>G)
c.1927-36C>G (n.1927-36C>G)
c.1987-36C>G (n.1987-36C>G)
c.2158-36C>G (n.2158-36C>G)
c.4213-36C>G (n.4213-36C>G)
c.4273-36C>G (n.4273-36C>G)
c.4168-36C>G (n.4168-36C>G)
 dbSNP ExAC
2g.26467269G=CA1239818287OTOFc.4228-36C= (n.4228-36C=)
c.1927-36C= (n.1927-36C=)
c.1987-36C= (n.1987-36C=)
c.2158-36C= (n.2158-36C=)
c.4213-36C= (n.4213-36C=)
c.4273-36C= (n.4273-36C=)
c.4168-36C= (n.4168-36C=)
2g.26467270G>ACA1028607550OTOFc.4228-37C>T (n.4228-37C>T)
c.1927-37C>T (n.1927-37C>T)
c.1987-37C>T (n.1987-37C>T)
c.2158-37C>T (n.2158-37C>T)
c.4213-37C>T (n.4213-37C>T)
c.4273-37C>T (n.4273-37C>T)
c.4168-37C>T (n.4168-37C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.26467270G=CA1239818291OTOFc.4228-37C= (n.4228-37C=)
c.1927-37C= (n.1927-37C=)
c.1987-37C= (n.1987-37C=)
c.2158-37C= (n.2158-37C=)
c.4213-37C= (n.4213-37C=)
c.4273-37C= (n.4273-37C=)
c.4168-37C= (n.4168-37C=)
2g.26467271T>GCA1239818294OTOFc.4228-38A>C (n.4228-38A>C)
c.1927-38A>C (n.1927-38A>C)
c.1987-38A>C (n.1987-38A>C)
c.2158-38A>C (n.2158-38A>C)
c.4213-38A>C (n.4213-38A>C)
c.4273-38A>C (n.4273-38A>C)
c.4168-38A>C (n.4168-38A>C)
 dbSNP
2g.26467271T=CA1239818292OTOFc.4228-38A= (n.4228-38A=)
c.1927-38A= (n.1927-38A=)
c.1987-38A= (n.1987-38A=)
c.2158-38A= (n.2158-38A=)
c.4213-38A= (n.4213-38A=)
c.4273-38A= (n.4273-38A=)
c.4168-38A= (n.4168-38A=)
2g.26467271_26467272insACA2658234833OTOFc.4228-39_4228-38insT (n.4228-39_4228-38insT)
c.1927-39_1927-38insT (n.1927-39_1927-38insT)
c.1987-39_1987-38insT (n.1987-39_1987-38insT)
c.2158-39_2158-38insT (n.2158-39_2158-38insT)
c.4213-39_4213-38insT (n.4213-39_4213-38insT)
c.4273-39_4273-38insT (n.4273-39_4273-38insT)
c.4168-39_4168-38insT (n.4168-39_4168-38insT)
 gnomAD v4
2g.26467277G>ACA531761801OTOFc.4228-44C>T (n.4228-44C>T)
c.1927-44C>T (n.1927-44C>T)
c.1987-44C>T (n.1987-44C>T)
c.2158-44C>T (n.2158-44C>T)
c.4213-44C>T (n.4213-44C>T)
c.4273-44C>T (n.4273-44C>T)
c.4168-44C>T (n.4168-44C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26467277G=CA1239818296OTOFc.4228-44C= (n.4228-44C=)
c.1927-44C= (n.1927-44C=)
c.1987-44C= (n.1987-44C=)
c.2158-44C= (n.2158-44C=)
c.4213-44C= (n.4213-44C=)
c.4273-44C= (n.4273-44C=)
c.4168-44C= (n.4168-44C=)
2g.26467278C>GCA2658234834OTOFc.4228-45G>C (n.4228-45G>C)
c.1927-45G>C (n.1927-45G>C)
c.1987-45G>C (n.1987-45G>C)
c.2158-45G>C (n.2158-45G>C)
c.4213-45G>C (n.4213-45G>C)
c.4273-45G>C (n.4273-45G>C)
c.4168-45G>C (n.4168-45G>C)
 gnomAD v4
2g.26467280T>ACA2658234835OTOFc.4228-47A>T (n.4228-47A>T)
c.1927-47A>T (n.1927-47A>T)
c.1987-47A>T (n.1987-47A>T)
c.2158-47A>T (n.2158-47A>T)
c.4213-47A>T (n.4213-47A>T)
c.4273-47A>T (n.4273-47A>T)
c.4168-47A>T (n.4168-47A>T)
 gnomAD v4
2g.26467282T>ACA2658234836OTOFc.4228-49A>T (n.4228-49A>T)
c.1927-49A>T (n.1927-49A>T)
c.1987-49A>T (n.1987-49A>T)
c.2158-49A>T (n.2158-49A>T)
c.4213-49A>T (n.4213-49A>T)
c.4273-49A>T (n.4273-49A>T)
c.4168-49A>T (n.4168-49A>T)
 gnomAD v4
2g.26467282T>CCA1563242OTOFc.4228-49A>G (n.4228-49A>G)
c.1927-49A>G (n.1927-49A>G)
c.1987-49A>G (n.1987-49A>G)
c.2158-49A>G (n.2158-49A>G)
c.4213-49A>G (n.4213-49A>G)
c.4273-49A>G (n.4273-49A>G)
c.4168-49A>G (n.4168-49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467282T=CA1239818300OTOFc.4228-49A= (n.4228-49A=)
c.1927-49A= (n.1927-49A=)
c.1987-49A= (n.1987-49A=)
c.2158-49A= (n.2158-49A=)
c.4213-49A= (n.4213-49A=)
c.4273-49A= (n.4273-49A=)
c.4168-49A= (n.4168-49A=)
2g.26467283G>ACA2658234837OTOFc.4228-50C>T (n.4228-50C>T)
c.1927-50C>T (n.1927-50C>T)
c.1987-50C>T (n.1987-50C>T)
c.2158-50C>T (n.2158-50C>T)
c.4213-50C>T (n.4213-50C>T)
c.4273-50C>T (n.4273-50C>T)
c.4168-50C>T (n.4168-50C>T)
 gnomAD v4
2g.26467283G>TCA2517534915OTOFc.4228-50C>A (n.4228-50C>A)
c.1927-50C>A (n.1927-50C>A)
c.1987-50C>A (n.1987-50C>A)
c.2158-50C>A (n.2158-50C>A)
c.4213-50C>A (n.4213-50C>A)
c.4273-50C>A (n.4273-50C>A)
c.4168-50C>A (n.4168-50C>A)
 gnomAD v4
2g.26467285C>ACA2698772184OTOFc.4228-52G>T (n.4228-52G>T)
c.1927-52G>T (n.1927-52G>T)
c.1987-52G>T (n.1987-52G>T)
c.2158-52G>T (n.2158-52G>T)
c.4213-52G>T (n.4213-52G>T)
c.4273-52G>T (n.4273-52G>T)
c.4168-52G>T (n.4168-52G>T)
 dbSNP
2g.26467285C=CA1239818302OTOFc.4228-52G= (n.4228-52G=)
c.1927-52G= (n.1927-52G=)
c.1987-52G= (n.1987-52G=)
c.2158-52G= (n.2158-52G=)
c.4213-52G= (n.4213-52G=)
c.4273-52G= (n.4273-52G=)
c.4168-52G= (n.4168-52G=)
2g.26467285C>TCA1563243OTOFc.4228-52G>A (n.4228-52G>A)
c.1927-52G>A (n.1927-52G>A)
c.1987-52G>A (n.1987-52G>A)
c.2158-52G>A (n.2158-52G>A)
c.4213-52G>A (n.4213-52G>A)
c.4273-52G>A (n.4273-52G>A)
c.4168-52G>A (n.4168-52G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467286C>GCA2576699124OTOFc.4228-53G>C (n.4228-53G>C)
c.1927-53G>C (n.1927-53G>C)
c.1987-53G>C (n.1987-53G>C)
c.2158-53G>C (n.2158-53G>C)
c.4213-53G>C (n.4213-53G>C)
c.4273-53G>C (n.4273-53G>C)
c.4168-53G>C (n.4168-53G>C)
 gnomAD v4
2g.26467286C>TCA2658234838OTOFc.4228-53G>A (n.4228-53G>A)
c.1927-53G>A (n.1927-53G>A)
c.1987-53G>A (n.1987-53G>A)
c.2158-53G>A (n.2158-53G>A)
c.4213-53G>A (n.4213-53G>A)
c.4273-53G>A (n.4273-53G>A)
c.4168-53G>A (n.4168-53G>A)
 gnomAD v4

Number of alleles fetched