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

Number of alleles fetched