Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26475891A>TCA2658237099OTOFc.2991+23T>A (n.2991+23T>A)
c.750+23T>A (n.750+23T>A)
c.921+23T>A (n.921+23T>A)
c.3036+23T>A (n.3036+23T>A)
 gnomAD v4
2g.26475892C>ACA2658237100OTOFc.2991+22G>T (n.2991+22G>T)
c.750+22G>T (n.750+22G>T)
c.921+22G>T (n.921+22G>T)
c.3036+22G>T (n.3036+22G>T)
 gnomAD v4
2g.26475892C=CA1239827616OTOFc.2991+22G= (n.2991+22G=)
c.750+22G= (n.750+22G=)
c.921+22G= (n.921+22G=)
c.3036+22G= (n.3036+22G=)
2g.26475892C>TCA1563707OTOFc.2991+22G>A (n.2991+22G>A)
c.750+22G>A (n.750+22G>A)
c.921+22G>A (n.921+22G>A)
c.3036+22G>A (n.3036+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475893T>ACA2658237101OTOFc.2991+21A>T (n.2991+21A>T)
c.750+21A>T (n.750+21A>T)
c.921+21A>T (n.921+21A>T)
c.3036+21A>T (n.3036+21A>T)
 gnomAD v4
2g.26475893T>CCA2658237102OTOFc.2991+21A>G (n.2991+21A>G)
c.750+21A>G (n.750+21A>G)
c.921+21A>G (n.921+21A>G)
c.3036+21A>G (n.3036+21A>G)
 gnomAD v4
2g.26475894C>ACA1563708OTOFc.2991+20G>T (n.2991+20G>T)
c.750+20G>T (n.750+20G>T)
c.921+20G>T (n.921+20G>T)
c.3036+20G>T (n.3036+20G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475894C=CA1239827619OTOFc.2991+20G= (n.2991+20G=)
c.750+20G= (n.750+20G=)
c.921+20G= (n.921+20G=)
c.3036+20G= (n.3036+20G=)
2g.26475894C>TCA1563709OTOFc.2991+20G>A (n.2991+20G>A)
c.750+20G>A (n.750+20G>A)
c.921+20G>A (n.921+20G>A)
c.3036+20G>A (n.3036+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26475896delCA2658237103OTOFc.2991+20del (n.2991+20del)
c.750+20del (n.750+20del)
c.921+20del (n.921+20del)
c.3036+20del (n.3036+20del)
 gnomAD v4
2g.26475895C>ACA2658237104OTOFc.2991+19G>T (n.2991+19G>T)
c.750+19G>T (n.750+19G>T)
c.921+19G>T (n.921+19G>T)
c.3036+19G>T (n.3036+19G>T)
 gnomAD v4
2g.26475895C=CA1239827625OTOFc.2991+19G= (n.2991+19G=)
c.750+19G= (n.750+19G=)
c.921+19G= (n.921+19G=)
c.3036+19G= (n.3036+19G=)
2g.26475895C>TCA531394911OTOFc.2991+19G>A (n.2991+19G>A)
c.750+19G>A (n.750+19G>A)
c.921+19G>A (n.921+19G>A)
c.3036+19G>A (n.3036+19G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475896C>ACA2658237105OTOFc.2991+18G>T (n.2991+18G>T)
c.750+18G>T (n.750+18G>T)
c.921+18G>T (n.921+18G>T)
c.3036+18G>T (n.3036+18G>T)
 gnomAD v4
2g.26475896C>TCA2658237106OTOFc.2991+18G>A (n.2991+18G>A)
c.750+18G>A (n.750+18G>A)
c.921+18G>A (n.921+18G>A)
c.3036+18G>A (n.3036+18G>A)
 gnomAD v4
2g.26475898C>ACA2658237107OTOFc.2991+16G>T (n.2991+16G>T)
c.750+16G>T (n.750+16G>T)
c.921+16G>T (n.921+16G>T)
c.3036+16G>T (n.3036+16G>T)
 gnomAD v4
2g.26475898C=CA1239827627OTOFc.2991+16G= (n.2991+16G=)
c.750+16G= (n.750+16G=)
c.921+16G= (n.921+16G=)
c.3036+16G= (n.3036+16G=)
2g.26475898C>TCA44397797OTOFc.2991+16G>A (n.2991+16G>A)
c.750+16G>A (n.750+16G>A)
c.921+16G>A (n.921+16G>A)
c.3036+16G>A (n.3036+16G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26475899C>ACA2658237108OTOFc.2991+15G>T (n.2991+15G>T)
c.750+15G>T (n.750+15G>T)
c.921+15G>T (n.921+15G>T)
c.3036+15G>T (n.3036+15G>T)
 gnomAD v4
2g.26475899C=CA1239827629OTOFc.2991+15G= (n.2991+15G=)
c.750+15G= (n.750+15G=)
c.921+15G= (n.921+15G=)
c.3036+15G= (n.3036+15G=)
2g.26475899C>TCA44397800OTOFc.2991+15G>A (n.2991+15G>A)
c.750+15G>A (n.750+15G>A)
c.921+15G>A (n.921+15G>A)
c.3036+15G>A (n.3036+15G>A)
 dbSNP
2g.26475900T>CCA2658237109OTOFc.2991+14A>G (n.2991+14A>G)
c.750+14A>G (n.750+14A>G)
c.921+14A>G (n.921+14A>G)
c.3036+14A>G (n.3036+14A>G)
 gnomAD v4
2g.26475900T>GCA1239827632OTOFc.2991+14A>C (n.2991+14A>C)
c.750+14A>C (n.750+14A>C)
c.921+14A>C (n.921+14A>C)
c.3036+14A>C (n.3036+14A>C)
 ClinVar dbSNP gnomAD v4
2g.26475900T=CA1239827631OTOFc.2991+14A= (n.2991+14A=)
c.750+14A= (n.750+14A=)
c.921+14A= (n.921+14A=)
c.3036+14A= (n.3036+14A=)
2g.26475901C>ACA2658237110OTOFc.2991+13G>T (n.2991+13G>T)
c.750+13G>T (n.750+13G>T)
c.921+13G>T (n.921+13G>T)
c.3036+13G>T (n.3036+13G>T)
 gnomAD v4
2g.26475901C>TCA2658237111OTOFc.2991+13G>A (n.2991+13G>A)
c.750+13G>A (n.750+13G>A)
c.921+13G>A (n.921+13G>A)
c.3036+13G>A (n.3036+13G>A)
 gnomAD v4
2g.26475903C>ACA646574011OTOFc.2991+11G>T (n.2991+11G>T)
c.750+11G>T (n.750+11G>T)
c.921+11G>T (n.921+11G>T)
c.3036+11G>T (n.3036+11G>T)
 gnomAD v4 COSMIC
2g.26475904A>GCA2658237112OTOFc.2991+10T>C (n.2991+10T>C)
c.750+10T>C (n.750+10T>C)
c.921+10T>C (n.921+10T>C)
c.3036+10T>C (n.3036+10T>C)
 gnomAD v4
2g.26475905G>ACA2658237113OTOFc.2991+9C>T (n.2991+9C>T)
c.750+9C>T (n.750+9C>T)
c.921+9C>T (n.921+9C>T)
c.3036+9C>T (n.3036+9C>T)
 gnomAD v4
2g.26475905G>TCA2658237114OTOFc.2991+9C>A (n.2991+9C>A)
c.750+9C>A (n.750+9C>A)
c.921+9C>A (n.921+9C>A)
c.3036+9C>A (n.3036+9C>A)
 gnomAD v4
2g.26475906G>TCA2658237115OTOFc.2991+8C>A (n.2991+8C>A)
c.750+8C>A (n.750+8C>A)
c.921+8C>A (n.921+8C>A)
c.3036+8C>A (n.3036+8C>A)
 gnomAD v4
2g.26475907C>ACA2658237116OTOFc.2991+7G>T (n.2991+7G>T)
c.750+7G>T (n.750+7G>T)
c.921+7G>T (n.921+7G>T)
c.3036+7G>T (n.3036+7G>T)
 gnomAD v4
2g.26475907C=CA1239827634OTOFc.2991+7G= (n.2991+7G=)
c.750+7G= (n.750+7G=)
c.921+7G= (n.921+7G=)
c.3036+7G= (n.3036+7G=)
2g.26475907C>TCA44397802OTOFc.2991+7G>A (n.2991+7G>A)
c.750+7G>A (n.750+7G>A)
c.921+7G>A (n.921+7G>A)
c.3036+7G>A (n.3036+7G>A)
 ClinVar dbSNP gnomAD v4
2g.26475908C>ACA2658237117OTOFc.2991+6G>T (n.2991+6G>T)
c.750+6G>T (n.750+6G>T)
c.921+6G>T (n.921+6G>T)
c.3036+6G>T (n.3036+6G>T)
 gnomAD v4
2g.26475908C=CA1239827638OTOFc.2991+6G= (n.2991+6G=)
c.750+6G= (n.750+6G=)
c.921+6G= (n.921+6G=)
c.3036+6G= (n.3036+6G=)
2g.26475908C>TCA44397804OTOFc.2991+6G>A (n.2991+6G>A)
c.750+6G>A (n.750+6G>A)
c.921+6G>A (n.921+6G>A)
c.3036+6G>A (n.3036+6G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475909C>ACA2658237118OTOFc.2991+5G>T (n.2991+5G>T)
c.750+5G>T (n.750+5G>T)
c.921+5G>T (n.921+5G>T)
c.3036+5G>T (n.3036+5G>T)
 gnomAD v4
2g.26475909C=CA1239827641OTOFc.2991+5G= (n.2991+5G=)
c.750+5G= (n.750+5G=)
c.921+5G= (n.921+5G=)
c.3036+5G= (n.3036+5G=)
2g.26475909C>TCA1563710OTOFc.2991+5G>A (n.2991+5G>A)
c.750+5G>A (n.750+5G>A)
c.921+5G>A (n.921+5G>A)
c.3036+5G>A (n.3036+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475911C>ACA2658237119OTOFc.2991+3G>T (n.2991+3G>T)
c.750+3G>T (n.750+3G>T)
c.921+3G>T (n.921+3G>T)
c.3036+3G>T (n.3036+3G>T)
 gnomAD v4
2g.26475911C=CA1239827644OTOFc.2991+3G= (n.2991+3G=)
c.750+3G= (n.750+3G=)
c.921+3G= (n.921+3G=)
c.3036+3G= (n.3036+3G=)
2g.26475911C>TCA531761808OTOFc.2991+3G>A (n.2991+3G>A)
c.750+3G>A (n.750+3G>A)
c.921+3G>A (n.921+3G>A)
c.3036+3G>A (n.3036+3G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26475912A=CA1239827648OTOFc.2991+2T= (n.2991+2T=)
c.750+2T= (n.750+2T=)
c.921+2T= (n.921+2T=)
c.3036+2T= (n.3036+2T=)
2g.26475912A>CCA273547OTOFc.2991+2T>G (n.2991+2T>G)
c.750+2T>G (n.750+2T>G)
c.921+2T>G (n.921+2T>G)
c.3036+2T>G (n.3036+2T>G)
 ClinVar dbSNP ExAC gnomAD v4
2g.26475912A>GCA346112325OTOFc.2991+2T>C (n.2991+2T>C)
c.750+2T>C (n.750+2T>C)
c.921+2T>C (n.921+2T>C)
c.3036+2T>C (n.3036+2T>C)
 gnomAD v4
2g.26475912A>TCA346112327OTOFc.2991+2T>A (n.2991+2T>A)
c.750+2T>A (n.750+2T>A)
c.921+2T>A (n.921+2T>A)
c.3036+2T>A (n.3036+2T>A)
2g.26475913C>ACA346112332OTOFc.2991+1G>T (n.2991+1G>T)
c.750+1G>T (n.750+1G>T)
c.921+1G>T (n.921+1G>T)
c.3036+1G>T (n.3036+1G>T)
 gnomAD v4
2g.26475913C=CA1239827655OTOFc.2991+1G= (n.2991+1G=)
c.750+1G= (n.750+1G=)
c.921+1G= (n.921+1G=)
c.3036+1G= (n.3036+1G=)
2g.26475913C>GCA346112333OTOFc.2991+1G>C (n.2991+1G>C)
c.750+1G>C (n.750+1G>C)
c.921+1G>C (n.921+1G>C)
c.3036+1G>C (n.3036+1G>C)
 gnomAD v4
2g.26475913C>TCA342568OTOFc.2991+1G>A (n.2991+1G>A)
c.750+1G>A (n.750+1G>A)
c.921+1G>A (n.921+1G>A)
c.3036+1G>A (n.3036+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26475914dupCA2658237120OTOFc.2991+1dup
c.750+1dup
c.921+1dup
c.3036+1dup
 gnomAD v4
2g.26475914C>ACA346112341OTOFc.2991G>T (p.Glu997Asp)
c.750G>T (p.Glu250Asp)
c.921G>T (p.Glu307Asp)
c.3036G>T (p.Glu1012Asp)
2g.26475914C>GCA346112345OTOFc.2991G>C (p.Glu997Asp)
c.750G>C (p.Glu250Asp)
c.921G>C (p.Glu307Asp)
c.3036G>C (p.Glu1012Asp)
2g.26475914C>TCA425359830OTOFc.2991G>A (p.Glu997=)
c.750G>A (p.Glu250=)
c.921G>A (p.Glu307=)
c.3036G>A (p.Glu1012=)
 gnomAD v4
2g.26475915T>ACA346112361OTOFc.2990A>T (p.Glu997Val)
c.749A>T (p.Glu250Val)
c.920A>T (p.Glu307Val)
c.3035A>T (p.Glu1012Val)
2g.26475915T>CCA346112365OTOFc.2990A>G (p.Glu997Gly)
c.749A>G (p.Glu250Gly)
c.920A>G (p.Glu307Gly)
c.3035A>G (p.Glu1012Gly)
2g.26475915T>GCA346112362OTOFc.2990A>C (p.Glu997Ala)
c.749A>C (p.Glu250Ala)
c.920A>C (p.Glu307Ala)
c.3035A>C (p.Glu1012Ala)
2g.26475916C>ACA346112375OTOFc.2989G>T (p.Glu997Ter)
c.748G>T (p.Glu250Ter)
c.919G>T (p.Glu307Ter)
c.3034G>T (p.Glu1012Ter)
 ClinVar dbSNP
2g.26475916C=CA1239827658OTOFc.2989G= (p.Glu997=)
c.748G= (p.Glu250=)
c.919G= (p.Glu307=)
c.3034G= (p.Glu1012=)
2g.26475916C>GCA346112378OTOFc.2989G>C (p.Glu997Gln)
c.748G>C (p.Glu250Gln)
c.919G>C (p.Glu307Gln)
c.3034G>C (p.Glu1012Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.26475916C>TCA346112380OTOFc.2989G>A (p.Glu997Lys)
c.748G>A (p.Glu250Lys)
c.919G>A (p.Glu307Lys)
c.3034G>A (p.Glu1012Lys)
 gnomAD v4
2g.26475917T>ACA425359841OTOFc.2988A>T (p.Thr996=)
c.747A>T (p.Thr249=)
c.918A>T (p.Thr306=)
c.3033A>T (p.Thr1011=)
2g.26475917T>CCA425359839OTOFc.2988A>G (p.Thr996=)
c.747A>G (p.Thr249=)
c.918A>G (p.Thr306=)
c.3033A>G (p.Thr1011=)
2g.26475917T>GCA425359838OTOFc.2988A>C (p.Thr996=)
c.747A>C (p.Thr249=)
c.918A>C (p.Thr306=)
c.3033A>C (p.Thr1011=)
2g.26475918G>ACA346112382OTOFc.2987C>T (p.Thr996Ile)
c.746C>T (p.Thr249Ile)
c.917C>T (p.Thr306Ile)
c.3032C>T (p.Thr1011Ile)
 gnomAD v4
2g.26475918G>CCA346112384OTOFc.2987C>G (p.Thr996Arg)
c.746C>G (p.Thr249Arg)
c.917C>G (p.Thr306Arg)
c.3032C>G (p.Thr1011Arg)
2g.26475918G>TCA346112385OTOFc.2987C>A (p.Thr996Lys)
c.746C>A (p.Thr249Lys)
c.917C>A (p.Thr306Lys)
c.3032C>A (p.Thr1011Lys)
2g.26475919T>ACA346112392OTOFc.2986A>T (p.Thr996Ser)
c.745A>T (p.Thr249Ser)
c.916A>T (p.Thr306Ser)
c.3031A>T (p.Thr1011Ser)
2g.26475919T>CCA1563711OTOFc.2986A>G (p.Thr996Ala)
c.745A>G (p.Thr249Ala)
c.916A>G (p.Thr306Ala)
c.3031A>G (p.Thr1011Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475919T>GCA346112389OTOFc.2986A>C (p.Thr996Pro)
c.745A>C (p.Thr249Pro)
c.916A>C (p.Thr306Pro)
c.3031A>C (p.Thr1011Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26475919T=CA1239827664OTOFc.2986A= (p.Thr996=)
c.745A= (p.Thr249=)
c.916A= (p.Thr306=)
c.3031A= (p.Thr1011=)
2g.26475920G>ACA425359846OTOFc.2985C>T (p.Cys995=)
c.744C>T (p.Cys248=)
c.915C>T (p.Cys305=)
c.3030C>T (p.Cys1010=)
2g.26475920G>CCA346112398OTOFc.2985C>G (p.Cys995Trp)
c.744C>G (p.Cys248Trp)
c.915C>G (p.Cys305Trp)
c.3030C>G (p.Cys1010Trp)
2g.26475920G>TCA346112401OTOFc.2985C>A (p.Cys995Ter)
c.744C>A (p.Cys248Ter)
c.915C>A (p.Cys305Ter)
c.3030C>A (p.Cys1010Ter)
 ClinVar dbSNP
2g.26475921C>ACA346112408OTOFc.2984G>T (p.Cys995Phe)
c.743G>T (p.Cys248Phe)
c.914G>T (p.Cys305Phe)
c.3029G>T (p.Cys1010Phe)
2g.26475921C=CA1239827669OTOFc.2984G= (p.Cys995=)
c.743G= (p.Cys248=)
c.914G= (p.Cys305=)
c.3029G= (p.Cys1010=)
2g.26475921C>GCA346112412OTOFc.2984G>C (p.Cys995Ser)
c.743G>C (p.Cys248Ser)
c.914G>C (p.Cys305Ser)
c.3029G>C (p.Cys1010Ser)
2g.26475921C>TCA346112413OTOFc.2984G>A (p.Cys995Tyr)
c.743G>A (p.Cys248Tyr)
c.914G>A (p.Cys305Tyr)
c.3029G>A (p.Cys1010Tyr)
 dbSNP gnomAD v4
2g.26475922A=CA1239827675OTOFc.2983T= (p.Cys995=)
c.742T= (p.Cys248=)
c.913T= (p.Cys305=)
c.3028T= (p.Cys1010=)
2g.26475922A>CCA346112414OTOFc.2983T>G (p.Cys995Gly)
c.742T>G (p.Cys248Gly)
c.913T>G (p.Cys305Gly)
c.3028T>G (p.Cys1010Gly)
2g.26475922A>GCA346112418OTOFc.2983T>C (p.Cys995Arg)
c.742T>C (p.Cys248Arg)
c.913T>C (p.Cys305Arg)
c.3028T>C (p.Cys1010Arg)
 ClinVar dbSNP gnomAD v2
2g.26475922A>TCA346112415OTOFc.2983T>A (p.Cys995Ser)
c.742T>A (p.Cys248Ser)
c.913T>A (p.Cys305Ser)
c.3028T>A (p.Cys1010Ser)
2g.26475923C>ACA346112424OTOFc.2982G>T (p.Gln994His)
c.741G>T (p.Gln247His)
c.912G>T (p.Gln304His)
c.3027G>T (p.Gln1009His)
 gnomAD v4
2g.26475923C>GCA346112429OTOFc.2982G>C (p.Gln994His)
c.741G>C (p.Gln247His)
c.912G>C (p.Gln304His)
c.3027G>C (p.Gln1009His)
2g.26475923C>TCA425359853OTOFc.2982G>A (p.Gln994=)
c.741G>A (p.Gln247=)
c.912G>A (p.Gln304=)
c.3027G>A (p.Gln1009=)
2g.26475924T>ACA346112431OTOFc.2981A>T (p.Gln994Leu)
c.740A>T (p.Gln247Leu)
c.911A>T (p.Gln304Leu)
c.3026A>T (p.Gln1009Leu)
2g.26475924T>CCA1563712OTOFc.2981A>G (p.Gln994Arg)
c.740A>G (p.Gln247Arg)
c.911A>G (p.Gln304Arg)
c.3026A>G (p.Gln1009Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475924T>GCA346112432OTOFc.2981A>C (p.Gln994Pro)
c.740A>C (p.Gln247Pro)
c.911A>C (p.Gln304Pro)
c.3026A>C (p.Gln1009Pro)
2g.26475924T=CA1239827677OTOFc.2981A= (p.Gln994=)
c.740A= (p.Gln247=)
c.911A= (p.Gln304=)
c.3026A= (p.Gln1009=)
2g.26475925G>ACA346112434OTOFc.2980C>T (p.Gln994Ter)
c.739C>T (p.Gln247Ter)
c.910C>T (p.Gln304Ter)
c.3025C>T (p.Gln1009Ter)
2g.26475925G>CCA346112435OTOFc.2980C>G (p.Gln994Glu)
c.739C>G (p.Gln247Glu)
c.910C>G (p.Gln304Glu)
c.3025C>G (p.Gln1009Glu)
2g.26475925G>TCA346112437OTOFc.2980C>A (p.Gln994Lys)
c.739C>A (p.Gln247Lys)
c.910C>A (p.Gln304Lys)
c.3025C>A (p.Gln1009Lys)
2g.26475926A>CCA346112441OTOFc.2979T>G (p.Ser993Arg)
c.738T>G (p.Ser246Arg)
c.909T>G (p.Ser303Arg)
c.3024T>G (p.Ser1008Arg)
2g.26475926A>GCA425359859OTOFc.2979T>C (p.Ser993=)
c.738T>C (p.Ser246=)
c.909T>C (p.Ser303=)
c.3024T>C (p.Ser1008=)
2g.26475926A>TCA346112445OTOFc.2979T>A (p.Ser993Arg)
c.738T>A (p.Ser246Arg)
c.909T>A (p.Ser303Arg)
c.3024T>A (p.Ser1008Arg)
 gnomAD v4
2g.26475926_26475928delinsACTCA1239827679OTOFc.2977_2979delinsAGT (p.Ser993=)
c.736_738delinsAGT (p.Ser246=)
c.907_909delinsAGT (p.Ser303=)
c.3022_3024delinsAGT (p.Ser1008=)
2g.26475927C>ACA346112455OTOFc.2978G>T (p.Ser993Ile)
c.737G>T (p.Ser246Ile)
c.908G>T (p.Ser303Ile)
c.3023G>T (p.Ser1008Ile)
 dbSNP
2g.26475927C=CA1239827681OTOFc.2978G= (p.Ser993=)
c.737G= (p.Ser246=)
c.908G= (p.Ser303=)
c.3023G= (p.Ser1008=)
2g.26475927C>GCA346112452OTOFc.2978G>C (p.Ser993Thr)
c.737G>C (p.Ser246Thr)
c.908G>C (p.Ser303Thr)
c.3023G>C (p.Ser1008Thr)
2g.26475927C>TCA346112457OTOFc.2978G>A (p.Ser993Asn)
c.737G>A (p.Ser246Asn)
c.908G>A (p.Ser303Asn)
c.3023G>A (p.Ser1008Asn)
 dbSNP gnomAD v4
2g.26475929_26475930delCA273658OTOFc.2977_2978del (p.Gln994ValfsTer7)
c.736_737del (p.Gln247ValfsTer7)
c.907_908del (p.Gln304ValfsTer7)
c.3022_3023del (p.Gln1009ValfsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475928T>ACA346112461OTOFc.2977A>T (p.Ser993Cys)
c.736A>T (p.Ser246Cys)
c.907A>T (p.Ser303Cys)
c.3022A>T (p.Ser1008Cys)
 dbSNP gnomAD v4
2g.26475928T>CCA346112460OTOFc.2977A>G (p.Ser993Gly)
c.736A>G (p.Ser246Gly)
c.907A>G (p.Ser303Gly)
c.3022A>G (p.Ser1008Gly)
 gnomAD v4
2g.26475928T>GCA346112462OTOFc.2977A>C (p.Ser993Arg)
c.736A>C (p.Ser246Arg)
c.907A>C (p.Ser303Arg)
c.3022A>C (p.Ser1008Arg)
2g.26475928T=CA1239827682OTOFc.2977A= (p.Ser993=)
c.736A= (p.Ser246=)
c.907A= (p.Ser303=)
c.3022A= (p.Ser1008=)
2g.26475929C>ACA346112465OTOFc.2976G>T (p.Gln992His)
c.735G>T (p.Gln245His)
c.906G>T (p.Gln302His)
c.3021G>T (p.Gln1007His)
2g.26475929C>GCA346112468OTOFc.2976G>C (p.Gln992His)
c.735G>C (p.Gln245His)
c.906G>C (p.Gln302His)
c.3021G>C (p.Gln1007His)
 gnomAD v4
2g.26475929C>TCA425359864OTOFc.2976G>A (p.Gln992=)
c.735G>A (p.Gln245=)
c.906G>A (p.Gln302=)
c.3021G>A (p.Gln1007=)
2g.26475930T>ACA346112472OTOFc.2975A>T (p.Gln992Leu)
c.734A>T (p.Gln245Leu)
c.905A>T (p.Gln302Leu)
c.3020A>T (p.Gln1007Leu)
 gnomAD v4
2g.26475930T>CCA346112487OTOFc.2975A>G (p.Gln992Arg)
c.734A>G (p.Gln245Arg)
c.905A>G (p.Gln302Arg)
c.3020A>G (p.Gln1007Arg)
 gnomAD v4
2g.26475930T>GCA346112482OTOFc.2975A>C (p.Gln992Pro)
c.734A>C (p.Gln245Pro)
c.905A>C (p.Gln302Pro)
c.3020A>C (p.Gln1007Pro)
2g.26475934_26475937delCA2658237121OTOFc.2972_2975del (p.Asn991ArgfsTer8)
c.731_734del (p.Asn244ArgfsTer8)
c.902_905del (p.Asn301ArgfsTer8)
c.3017_3020del (p.Asn1006ArgfsTer8)
 gnomAD v4
2g.26475931G>ACA346112491OTOFc.2974C>T (p.Gln992Ter)
c.733C>T (p.Gln245Ter)
c.904C>T (p.Gln302Ter)
c.3019C>T (p.Gln1007Ter)
2g.26475931G>CCA44397815OTOFc.2974C>G (p.Gln992Glu)
c.733C>G (p.Gln245Glu)
c.904C>G (p.Gln302Glu)
c.3019C>G (p.Gln1007Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475931G=CA1239827684OTOFc.2974C= (p.Gln992=)
c.733C= (p.Gln245=)
c.904C= (p.Gln302=)
c.3019C= (p.Gln1007=)
2g.26475931G>TCA346112497OTOFc.2974C>A (p.Gln992Lys)
c.733C>A (p.Gln245Lys)
c.904C>A (p.Gln302Lys)
c.3019C>A (p.Gln1007Lys)
2g.26475932A=CA1239827685OTOFc.2973T= (p.Asn991=)
c.732T= (p.Asn244=)
c.903T= (p.Asn301=)
c.3018T= (p.Asn1006=)
2g.26475932A>CCA346112501OTOFc.2973T>G (p.Asn991Lys)
c.732T>G (p.Asn244Lys)
c.903T>G (p.Asn301Lys)
c.3018T>G (p.Asn1006Lys)
2g.26475932A>GCA425359872OTOFc.2973T>C (p.Asn991=)
c.732T>C (p.Asn244=)
c.903T>C (p.Asn301=)
c.3018T>C (p.Asn1006=)
2g.26475932A>TCA346112508OTOFc.2973T>A (p.Asn991Lys)
c.732T>A (p.Asn244Lys)
c.903T>A (p.Asn301Lys)
c.3018T>A (p.Asn1006Lys)
 dbSNP gnomAD v2
2g.26475933_26475953delCA2658237122OTOFc.2953_2973del (p.Ala985_Asn991del)
c.712_732del (p.Ala238_Asn244del)
c.883_903del (p.Ala295_Asn301del)
c.2998_3018del (p.Ala1000_Asn1006del)
 gnomAD v4
2g.26475933T>ACA346112515OTOFc.2972A>T (p.Asn991Ile)
c.731A>T (p.Asn244Ile)
c.902A>T (p.Asn301Ile)
c.3017A>T (p.Asn1006Ile)
2g.26475933T>CCA142836OTOFc.2972A>G (p.Asn991Ser)
c.731A>G (p.Asn244Ser)
c.902A>G (p.Asn301Ser)
c.3017A>G (p.Asn1006Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475933T>GCA346112524OTOFc.2972A>C (p.Asn991Thr)
c.731A>C (p.Asn244Thr)
c.902A>C (p.Asn301Thr)
c.3017A>C (p.Asn1006Thr)
2g.26475933T=CA1239827690OTOFc.2972A= (p.Asn991=)
c.731A= (p.Asn244=)
c.902A= (p.Asn301=)
c.3017A= (p.Asn1006=)
2g.26475934T>ACA346112528OTOFc.2971A>T (p.Asn991Tyr)
c.730A>T (p.Asn244Tyr)
c.901A>T (p.Asn301Tyr)
c.3016A>T (p.Asn1006Tyr)
2g.26475934T>CCA346112537OTOFc.2971A>G (p.Asn991Asp)
c.730A>G (p.Asn244Asp)
c.901A>G (p.Asn301Asp)
c.3016A>G (p.Asn1006Asp)
2g.26475934T>GCA346112540OTOFc.2971A>C (p.Asn991His)
c.730A>C (p.Asn244His)
c.901A>C (p.Asn301His)
c.3016A>C (p.Asn1006His)
2g.26475935G>ACA425359879OTOFc.2970C>T (p.Ile990=)
c.729C>T (p.Ile243=)
c.900C>T (p.Ile300=)
c.3015C>T (p.Ile1005=)
2g.26475935G>CCA346112543OTOFc.2970C>G (p.Ile990Met)
c.729C>G (p.Ile243Met)
c.900C>G (p.Ile300Met)
c.3015C>G (p.Ile1005Met)
 gnomAD v4
2g.26475935G>TCA425359881OTOFc.2970C>A (p.Ile990=)
c.729C>A (p.Ile243=)
c.900C>A (p.Ile300=)
c.3015C>A (p.Ile1005=)
2g.26475936A>CCA346112550OTOFc.2969T>G (p.Ile990Ser)
c.728T>G (p.Ile243Ser)
c.899T>G (p.Ile300Ser)
c.3014T>G (p.Ile1005Ser)
2g.26475936A>GCA346112548OTOFc.2969T>C (p.Ile990Thr)
c.728T>C (p.Ile243Thr)
c.899T>C (p.Ile300Thr)
c.3014T>C (p.Ile1005Thr)
2g.26475936A>TCA346112549OTOFc.2969T>A (p.Ile990Asn)
c.728T>A (p.Ile243Asn)
c.899T>A (p.Ile300Asn)
c.3014T>A (p.Ile1005Asn)
2g.26475937T>ACA346112551OTOFc.2968A>T (p.Ile990Phe)
c.727A>T (p.Ile243Phe)
c.898A>T (p.Ile300Phe)
c.3013A>T (p.Ile1005Phe)
2g.26475937T>CCA346112554OTOFc.2968A>G (p.Ile990Val)
c.727A>G (p.Ile243Val)
c.898A>G (p.Ile300Val)
c.3013A>G (p.Ile1005Val)
2g.26475937T>GCA346112558OTOFc.2968A>C (p.Ile990Leu)
c.727A>C (p.Ile243Leu)
c.898A>C (p.Ile300Leu)
c.3013A>C (p.Ile1005Leu)
2g.26475937_26475940delinsTGAACA1239827695OTOFc.2965_2968delinsTTCA (p.Phe989=)
c.724_727delinsTTCA (p.Phe242=)
c.895_898delinsTTCA (p.Phe299=)
c.3010_3013delinsTTCA (p.Phe1004=)
2g.26475938G>ACA425359892OTOFc.2967C>T (p.Phe989=)
c.726C>T (p.Phe242=)
c.897C>T (p.Phe299=)
c.3012C>T (p.Phe1004=)
2g.26475938G>CCA346112562OTOFc.2967C>G (p.Phe989Leu)
c.726C>G (p.Phe242Leu)
c.897C>G (p.Phe299Leu)
c.3012C>G (p.Phe1004Leu)
2g.26475938G>TCA346112563OTOFc.2967C>A (p.Phe989Leu)
c.726C>A (p.Phe242Leu)
c.897C>A (p.Phe299Leu)
c.3012C>A (p.Phe1004Leu)
2g.26475943_26475945delCA425359896OTOFc.2965_2967del (p.Phe989del)
c.724_726del (p.Phe242del)
c.895_897del (p.Phe299del)
c.3010_3012del (p.Phe1004del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26475939A>CCA346112566OTOFc.2966T>G (p.Phe989Cys)
c.725T>G (p.Phe242Cys)
c.896T>G (p.Phe299Cys)
c.3011T>G (p.Phe1004Cys)
2g.26475939A>GCA346112568OTOFc.2966T>C (p.Phe989Ser)
c.725T>C (p.Phe242Ser)
c.896T>C (p.Phe299Ser)
c.3011T>C (p.Phe1004Ser)
2g.26475939A>TCA346112570OTOFc.2966T>A (p.Phe989Tyr)
c.725T>A (p.Phe242Tyr)
c.896T>A (p.Phe299Tyr)
c.3011T>A (p.Phe1004Tyr)
2g.26475940A>CCA346112572OTOFc.2965T>G (p.Phe989Val)
c.724T>G (p.Phe242Val)
c.895T>G (p.Phe299Val)
c.3010T>G (p.Phe1004Val)
2g.26475940A>GCA346112583OTOFc.2965T>C (p.Phe989Leu)
c.724T>C (p.Phe242Leu)
c.895T>C (p.Phe299Leu)
c.3010T>C (p.Phe1004Leu)
2g.26475940A>TCA346112598OTOFc.2965T>A (p.Phe989Ile)
c.724T>A (p.Phe242Ile)
c.895T>A (p.Phe299Ile)
c.3010T>A (p.Phe1004Ile)
 gnomAD v4
2g.26475941G>ACA425359903OTOFc.2964C>T (p.Phe988=)
c.723C>T (p.Phe241=)
c.894C>T (p.Phe298=)
c.3009C>T (p.Phe1003=)
 ClinVar dbSNP
2g.26475941G>CCA1563713OTOFc.2964C>G (p.Phe988Leu)
c.723C>G (p.Phe241Leu)
c.894C>G (p.Phe298Leu)
c.3009C>G (p.Phe1003Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475941G=CA1239827698OTOFc.2964C= (p.Phe988=)
c.723C= (p.Phe241=)
c.894C= (p.Phe298=)
c.3009C= (p.Phe1003=)
2g.26475941G>TCA346112607OTOFc.2964C>A (p.Phe988Leu)
c.723C>A (p.Phe241Leu)
c.894C>A (p.Phe298Leu)
c.3009C>A (p.Phe1003Leu)
2g.26475942A=CA1239827699OTOFc.2963T= (p.Phe988=)
c.722T= (p.Phe241=)
c.893T= (p.Phe298=)
c.3008T= (p.Phe1003=)
2g.26475942A>CCA1563714OTOFc.2963T>G (p.Phe988Cys)
c.722T>G (p.Phe241Cys)
c.893T>G (p.Phe298Cys)
c.3008T>G (p.Phe1003Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475942A>GCA346112609OTOFc.2963T>C (p.Phe988Ser)
c.722T>C (p.Phe241Ser)
c.893T>C (p.Phe298Ser)
c.3008T>C (p.Phe1003Ser)
2g.26475942A>TCA346112612OTOFc.2963T>A (p.Phe988Tyr)
c.722T>A (p.Phe241Tyr)
c.893T>A (p.Phe298Tyr)
c.3008T>A (p.Phe1003Tyr)
2g.26475943A=CA1239827701OTOFc.2962T= (p.Phe988=)
c.721T= (p.Phe241=)
c.892T= (p.Phe298=)
c.3007T= (p.Phe1003=)
2g.26475943A>CCA44397821OTOFc.2962T>G (p.Phe988Val)
c.721T>G (p.Phe241Val)
c.892T>G (p.Phe298Val)
c.3007T>G (p.Phe1003Val)
 dbSNP gnomAD v4
2g.26475943A>GCA346112618OTOFc.2962T>C (p.Phe988Leu)
c.721T>C (p.Phe241Leu)
c.892T>C (p.Phe298Leu)
c.3007T>C (p.Phe1003Leu)
2g.26475943A>TCA346112622OTOFc.2962T>A (p.Phe988Ile)
c.721T>A (p.Phe241Ile)
c.892T>A (p.Phe298Ile)
c.3007T>A (p.Phe1003Ile)
2g.26475944G>ACA425359910OTOFc.2961C>T (p.Val987=)
c.720C>T (p.Val240=)
c.891C>T (p.Val297=)
c.3006C>T (p.Val1002=)
2g.26475944G>CCA425359911OTOFc.2961C>G (p.Val987=)
c.720C>G (p.Val240=)
c.891C>G (p.Val297=)
c.3006C>G (p.Val1002=)
2g.26475944G>TCA425359912OTOFc.2961C>A (p.Val987=)
c.720C>A (p.Val240=)
c.891C>A (p.Val297=)
c.3006C>A (p.Val1002=)
2g.26475945A>CCA346112627OTOFc.2960T>G (p.Val987Gly)
c.719T>G (p.Val240Gly)
c.890T>G (p.Val297Gly)
c.3005T>G (p.Val1002Gly)
2g.26475945A>GCA346112631OTOFc.2960T>C (p.Val987Ala)
c.719T>C (p.Val240Ala)
c.890T>C (p.Val297Ala)
c.3005T>C (p.Val1002Ala)
2g.26475945A>TCA346112634OTOFc.2960T>A (p.Val987Asp)
c.719T>A (p.Val240Asp)
c.890T>A (p.Val297Asp)
c.3005T>A (p.Val1002Asp)
2g.26475946C>ACA346112636OTOFc.2959G>T (p.Val987Phe)
c.718G>T (p.Val240Phe)
c.889G>T (p.Val297Phe)
c.3004G>T (p.Val1002Phe)
2g.26475946C=CA1239827704OTOFc.2959G= (p.Val987=)
c.718G= (p.Val240=)
c.889G= (p.Val297=)
c.3004G= (p.Val1002=)
2g.26475946C>GCA346112640OTOFc.2959G>C (p.Val987Leu)
c.718G>C (p.Val240Leu)
c.889G>C (p.Val297Leu)
c.3004G>C (p.Val1002Leu)
2g.26475946C>TCA1563715OTOFc.2959G>A (p.Val987Ile)
c.718G>A (p.Val240Ile)
c.889G>A (p.Val297Ile)
c.3004G>A (p.Val1002Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26475947G>ACA44397825OTOFc.2958C>T (p.Arg986=)
c.717C>T (p.Arg239=)
c.888C>T (p.Arg296=)
c.3003C>T (p.Arg1001=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26475947G>CCA425359917OTOFc.2958C>G (p.Arg986=)
c.717C>G (p.Arg239=)
c.888C>G (p.Arg296=)
c.3003C>G (p.Arg1001=)
2g.26475947G=CA1239827706OTOFc.2958C= (p.Arg986=)
c.717C= (p.Arg239=)
c.888C= (p.Arg296=)
c.3003C= (p.Arg1001=)
2g.26475947G>TCA44397827OTOFc.2958C>A (p.Arg986=)
c.717C>A (p.Arg239=)
c.888C>A (p.Arg296=)
c.3003C>A (p.Arg1001=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475948C>ACA346112644OTOFc.2957G>T (p.Arg986Leu)
c.716G>T (p.Arg239Leu)
c.887G>T (p.Arg296Leu)
c.3002G>T (p.Arg1001Leu)
 dbSNP
2g.26475948C=CA1239827708OTOFc.2957G= (p.Arg986=)
c.716G= (p.Arg239=)
c.887G= (p.Arg296=)
c.3002G= (p.Arg1001=)
2g.26475948C>GCA346112643OTOFc.2957G>C (p.Arg986Pro)
c.716G>C (p.Arg239Pro)
c.887G>C (p.Arg296Pro)
c.3002G>C (p.Arg1001Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475948C>TCA1563716OTOFc.2957G>A (p.Arg986His)
c.716G>A (p.Arg239His)
c.887G>A (p.Arg296His)
c.3002G>A (p.Arg1001His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475949G>ACA1563717OTOFc.2956C>T (p.Arg986Cys)
c.715C>T (p.Arg239Cys)
c.886C>T (p.Arg296Cys)
c.3001C>T (p.Arg1001Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475949G>CCA346112650OTOFc.2956C>G (p.Arg986Gly)
c.715C>G (p.Arg239Gly)
c.886C>G (p.Arg296Gly)
c.3001C>G (p.Arg1001Gly)
 dbSNP gnomAD v4
2g.26475949G=CA1239827711OTOFc.2956C= (p.Arg986=)
c.715C= (p.Arg239=)
c.886C= (p.Arg296=)
c.3001C= (p.Arg1001=)
2g.26475949G>TCA346112654OTOFc.2956C>A (p.Arg986Ser)
c.715C>A (p.Arg239Ser)
c.886C>A (p.Arg296Ser)
c.3001C>A (p.Arg1001Ser)
2g.26475951delCA2697547882OTOFc.2956del (p.Arg986AlafsTer14)
c.715del (p.Arg239AlafsTer14)
c.886del (p.Arg296AlafsTer14)
c.3001del (p.Arg1001AlafsTer14)
 ClinVar
2g.26475950G>ACA1563718OTOFc.2955C>T (p.Ala985=)
c.714C>T (p.Ala238=)
c.885C>T (p.Ala295=)
c.3000C>T (p.Ala1000=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475950G>CCA425359921OTOFc.2955C>G (p.Ala985=)
c.714C>G (p.Ala238=)
c.885C>G (p.Ala295=)
c.3000C>G (p.Ala1000=)
2g.26475950G=CA1239827713OTOFc.2955C= (p.Ala985=)
c.714C= (p.Ala238=)
c.885C= (p.Ala295=)
c.3000C= (p.Ala1000=)
2g.26475950G>TCA425359923OTOFc.2955C>A (p.Ala985=)
c.714C>A (p.Ala238=)
c.885C>A (p.Ala295=)
c.3000C>A (p.Ala1000=)
2g.26475951G>ACA1563719OTOFc.2954C>T (p.Ala985Val)
c.713C>T (p.Ala238Val)
c.884C>T (p.Ala295Val)
c.2999C>T (p.Ala1000Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475951G>CCA346112656OTOFc.2954C>G (p.Ala985Gly)
c.713C>G (p.Ala238Gly)
c.884C>G (p.Ala295Gly)
c.2999C>G (p.Ala1000Gly)
2g.26475951G=CA1239827715OTOFc.2954C= (p.Ala985=)
c.713C= (p.Ala238=)
c.884C= (p.Ala295=)
c.2999C= (p.Ala1000=)
2g.26475951G>TCA346112659OTOFc.2954C>A (p.Ala985Asp)
c.713C>A (p.Ala238Asp)
c.884C>A (p.Ala295Asp)
c.2999C>A (p.Ala1000Asp)
2g.26475952C>ACA346112679OTOFc.2953G>T (p.Ala985Ser)
c.712G>T (p.Ala238Ser)
c.883G>T (p.Ala295Ser)
c.2998G>T (p.Ala1000Ser)
2g.26475952C>GCA346112680OTOFc.2953G>C (p.Ala985Pro)
c.712G>C (p.Ala238Pro)
c.883G>C (p.Ala295Pro)
c.2998G>C (p.Ala1000Pro)
2g.26475952C>TCA346112681OTOFc.2953G>A (p.Ala985Thr)
c.712G>A (p.Ala238Thr)
c.883G>A (p.Ala295Thr)
c.2998G>A (p.Ala1000Thr)
 gnomAD v4
2g.26475953A=CA1239827716OTOFc.2952T= (p.Phe984=)
c.711T= (p.Phe237=)
c.882T= (p.Phe294=)
c.2997T= (p.Phe999=)
2g.26475953A>CCA346112683OTOFc.2952T>G (p.Phe984Leu)
c.711T>G (p.Phe237Leu)
c.882T>G (p.Phe294Leu)
c.2997T>G (p.Phe999Leu)
2g.26475953A>GCA425359929OTOFc.2952T>C (p.Phe984=)
c.711T>C (p.Phe237=)
c.882T>C (p.Phe294=)
c.2997T>C (p.Phe999=)
 dbSNP gnomAD v2 gnomAD v4
2g.26475953A>TCA346112685OTOFc.2952T>A (p.Phe984Leu)
c.711T>A (p.Phe237Leu)
c.882T>A (p.Phe294Leu)
c.2997T>A (p.Phe999Leu)
2g.26475954A>CCA346112690OTOFc.2951T>G (p.Phe984Cys)
c.710T>G (p.Phe237Cys)
c.881T>G (p.Phe294Cys)
c.2996T>G (p.Phe999Cys)
2g.26475954A>GCA346112693OTOFc.2951T>C (p.Phe984Ser)
c.710T>C (p.Phe237Ser)
c.881T>C (p.Phe294Ser)
c.2996T>C (p.Phe999Ser)
 gnomAD v4
2g.26475954A>TCA346112689OTOFc.2951T>A (p.Phe984Tyr)
c.710T>A (p.Phe237Tyr)
c.881T>A (p.Phe294Tyr)
c.2996T>A (p.Phe999Tyr)
2g.26475955A>CCA346112697OTOFc.2950T>G (p.Phe984Val)
c.709T>G (p.Phe237Val)
c.880T>G (p.Phe294Val)
c.2995T>G (p.Phe999Val)
 gnomAD v4
2g.26475955A>GCA346112698OTOFc.2950T>C (p.Phe984Leu)
c.709T>C (p.Phe237Leu)
c.880T>C (p.Phe294Leu)
c.2995T>C (p.Phe999Leu)
2g.26475955A>TCA346112700OTOFc.2950T>A (p.Phe984Ile)
c.709T>A (p.Phe237Ile)
c.880T>A (p.Phe294Ile)
c.2995T>A (p.Phe999Ile)
2g.26475956G>ACA142834OTOFc.2949C>T (p.Pro983=)
c.708C>T (p.Pro236=)
c.879C>T (p.Pro293=)
c.2994C>T (p.Pro998=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475956G>CCA425359935OTOFc.2949C>G (p.Pro983=)
c.708C>G (p.Pro236=)
c.879C>G (p.Pro293=)
c.2994C>G (p.Pro998=)
2g.26475956G=CA1239827719OTOFc.2949C= (p.Pro983=)
c.708C= (p.Pro236=)
c.879C= (p.Pro293=)
c.2994C= (p.Pro998=)
2g.26475956G>TCA425359937OTOFc.2949C>A (p.Pro983=)
c.708C>A (p.Pro236=)
c.879C>A (p.Pro293=)
c.2994C>A (p.Pro998=)
 gnomAD v4
2g.26475957G>ACA346112712OTOFc.2948C>T (p.Pro983Leu)
c.707C>T (p.Pro236Leu)
c.878C>T (p.Pro293Leu)
c.2993C>T (p.Pro998Leu)
2g.26475957G>CCA346112717OTOFc.2948C>G (p.Pro983Arg)
c.707C>G (p.Pro236Arg)
c.878C>G (p.Pro293Arg)
c.2993C>G (p.Pro998Arg)
2g.26475957G>TCA346112719OTOFc.2948C>A (p.Pro983His)
c.707C>A (p.Pro236His)
c.878C>A (p.Pro293His)
c.2993C>A (p.Pro998His)
2g.26475958G>ACA346112722OTOFc.2947C>T (p.Pro983Ser)
c.706C>T (p.Pro236Ser)
c.877C>T (p.Pro293Ser)
c.2992C>T (p.Pro998Ser)
 gnomAD v4
2g.26475958G>CCA346112749OTOFc.2947C>G (p.Pro983Ala)
c.706C>G (p.Pro236Ala)
c.877C>G (p.Pro293Ala)
c.2992C>G (p.Pro998Ala)
2g.26475958G>TCA346112734OTOFc.2947C>A (p.Pro983Thr)
c.706C>A (p.Pro236Thr)
c.877C>A (p.Pro293Thr)
c.2992C>A (p.Pro998Thr)
 gnomAD v4
2g.26475959_26475965delCA2697547883OTOFc.2941_2947del (p.Ser981ProfsTer17)
c.700_706del (p.Ser234ProfsTer17)
c.871_877del (p.Ser291ProfsTer17)
c.2986_2992del (p.Ser996ProfsTer17)
 ClinVar
2g.26475959G>ACA425359939OTOFc.2946C>T (p.Asp982=)
c.705C>T (p.Asp235=)
c.876C>T (p.Asp292=)
c.2991C>T (p.Asp997=)
 dbSNP gnomAD v4
2g.26475959G>CCA346112754OTOFc.2946C>G (p.Asp982Glu)
c.705C>G (p.Asp235Glu)
c.876C>G (p.Asp292Glu)
c.2991C>G (p.Asp997Glu)
2g.26475959G=CA1239827722OTOFc.2946C= (p.Asp982=)
c.705C= (p.Asp235=)
c.876C= (p.Asp292=)
c.2991C= (p.Asp997=)
2g.26475959G>TCA346112758OTOFc.2946C>A (p.Asp982Glu)
c.705C>A (p.Asp235Glu)
c.876C>A (p.Asp292Glu)
c.2991C>A (p.Asp997Glu)
2g.26475960T>ACA346112762OTOFc.2945A>T (p.Asp982Val)
c.704A>T (p.Asp235Val)
c.875A>T (p.Asp292Val)
c.2990A>T (p.Asp997Val)
2g.26475960T>CCA346112785OTOFc.2945A>G (p.Asp982Gly)
c.704A>G (p.Asp235Gly)
c.875A>G (p.Asp292Gly)
c.2990A>G (p.Asp997Gly)
2g.26475960T>GCA346112790OTOFc.2945A>C (p.Asp982Ala)
c.704A>C (p.Asp235Ala)
c.875A>C (p.Asp292Ala)
c.2990A>C (p.Asp997Ala)
 dbSNP
2g.26475960T=CA1239827724OTOFc.2945A= (p.Asp982=)
c.704A= (p.Asp235=)
c.875A= (p.Asp292=)
c.2990A= (p.Asp997=)
2g.26475961C>ACA346112794OTOFc.2944G>T (p.Asp982Tyr)
c.703G>T (p.Asp235Tyr)
c.874G>T (p.Asp292Tyr)
c.2989G>T (p.Asp997Tyr)
2g.26475961C>GCA346112811OTOFc.2944G>C (p.Asp982His)
c.703G>C (p.Asp235His)
c.874G>C (p.Asp292His)
c.2989G>C (p.Asp997His)
2g.26475961C>TCA346112806OTOFc.2944G>A (p.Asp982Asn)
c.703G>A (p.Asp235Asn)
c.874G>A (p.Asp292Asn)
c.2989G>A (p.Asp997Asn)
2g.26475962T>ACA425359944OTOFc.2943A>T (p.Ser981=)
c.702A>T (p.Ser234=)
c.873A>T (p.Ser291=)
c.2988A>T (p.Ser996=)
2g.26475962T>CCA425359947OTOFc.2943A>G (p.Ser981=)
c.702A>G (p.Ser234=)
c.873A>G (p.Ser291=)
c.2988A>G (p.Ser996=)
 dbSNP
2g.26475962T>GCA425359949OTOFc.2943A>C (p.Ser981=)
c.702A>C (p.Ser234=)
c.873A>C (p.Ser291=)
c.2988A>C (p.Ser996=)
2g.26475962T=CA1239827726OTOFc.2943A= (p.Ser981=)
c.702A= (p.Ser234=)
c.873A= (p.Ser291=)
c.2988A= (p.Ser996=)
2g.26475963G>ACA346112812OTOFc.2942C>T (p.Ser981Leu)
c.701C>T (p.Ser234Leu)
c.872C>T (p.Ser291Leu)
c.2987C>T (p.Ser996Leu)
2g.26475963G>CCA346112813OTOFc.2942C>G (p.Ser981Ter)
c.701C>G (p.Ser234Ter)
c.872C>G (p.Ser291Ter)
c.2987C>G (p.Ser996Ter)
2g.26475963G>TCA346112822OTOFc.2942C>A (p.Ser981Ter)
c.701C>A (p.Ser234Ter)
c.872C>A (p.Ser291Ter)
c.2987C>A (p.Ser996Ter)
2g.26475964A>CCA346112841OTOFc.2941T>G (p.Ser981Ala)
c.700T>G (p.Ser234Ala)
c.871T>G (p.Ser291Ala)
c.2986T>G (p.Ser996Ala)
2g.26475964A>GCA346112843OTOFc.2941T>C (p.Ser981Pro)
c.700T>C (p.Ser234Pro)
c.871T>C (p.Ser291Pro)
c.2986T>C (p.Ser996Pro)
2g.26475964A>TCA346112847OTOFc.2941T>A (p.Ser981Thr)
c.700T>A (p.Ser234Thr)
c.871T>A (p.Ser291Thr)
c.2986T>A (p.Ser996Thr)
 gnomAD v4
2g.26475965G>ACA425359954OTOFc.2940C>T (p.Leu980=)
c.699C>T (p.Leu233=)
c.870C>T (p.Leu290=)
c.2985C>T (p.Leu995=)
2g.26475965G>CCA425359955OTOFc.2940C>G (p.Leu980=)
c.699C>G (p.Leu233=)
c.870C>G (p.Leu290=)
c.2985C>G (p.Leu995=)
 gnomAD v4
2g.26475965G>TCA425359956OTOFc.2940C>A (p.Leu980=)
c.699C>A (p.Leu233=)
c.870C>A (p.Leu290=)
c.2985C>A (p.Leu995=)
2g.26475965_26475987delinsGAGTCCGCTGCTGTCGGCGGCAACA1239827727OTOFc.2918_2940delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe973=)
c.677_699delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe226=)
c.848_870delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe283=)
c.2963_2985delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe988=)
2g.26475966A>CCA346112851OTOFc.2939T>G (p.Leu980Arg)
c.698T>G (p.Leu233Arg)
c.869T>G (p.Leu290Arg)
c.2984T>G (p.Leu995Arg)
2g.26475966A>GCA346112852OTOFc.2939T>C (p.Leu980Pro)
c.698T>C (p.Leu233Pro)
c.869T>C (p.Leu290Pro)
c.2984T>C (p.Leu995Pro)
2g.26475966A>TCA346112855OTOFc.2939T>A (p.Leu980His)
c.698T>A (p.Leu233His)
c.869T>A (p.Leu290His)
c.2984T>A (p.Leu995His)
2g.26475968_26475989delCA531761809OTOFc.2918_2939del (p.Phe973SerfsTer20)
c.677_698del (p.Phe226SerfsTer20)
c.848_869del (p.Phe283SerfsTer20)
c.2963_2984del (p.Phe988SerfsTer20)
 dbSNP gnomAD v2 gnomAD v4
2g.26475967G>ACA346112861OTOFc.2938C>T (p.Leu980Phe)
c.697C>T (p.Leu233Phe)
c.868C>T (p.Leu290Phe)
c.2983C>T (p.Leu995Phe)
2g.26475967G>CCA346112870OTOFc.2938C>G (p.Leu980Val)
c.697C>G (p.Leu233Val)
c.868C>G (p.Leu290Val)
c.2983C>G (p.Leu995Val)
2g.26475967G>TCA346112877OTOFc.2938C>A (p.Leu980Ile)
c.697C>A (p.Leu233Ile)
c.868C>A (p.Leu290Ile)
c.2983C>A (p.Leu995Ile)
2g.26475968T>ACA425359959OTOFc.2937A>T (p.Gly979=)
c.696A>T (p.Gly232=)
c.867A>T (p.Gly289=)
c.2982A>T (p.Gly994=)
2g.26475968T>CCA425359960OTOFc.2937A>G (p.Gly979=)
c.696A>G (p.Gly232=)
c.867A>G (p.Gly289=)
c.2982A>G (p.Gly994=)
2g.26475968T>GCA425359961OTOFc.2937A>C (p.Gly979=)
c.696A>C (p.Gly232=)
c.867A>C (p.Gly289=)
c.2982A>C (p.Gly994=)
2g.26475969C>ACA346112881OTOFc.2936G>T (p.Gly979Val)
c.695G>T (p.Gly232Val)
c.866G>T (p.Gly289Val)
c.2981G>T (p.Gly994Val)
2g.26475969C=CA1239827730OTOFc.2936G= (p.Gly979=)
c.695G= (p.Gly232=)
c.866G= (p.Gly289=)
c.2981G= (p.Gly994=)
2g.26475969C>GCA346112883OTOFc.2936G>C (p.Gly979Ala)
c.695G>C (p.Gly232Ala)
c.866G>C (p.Gly289Ala)
c.2981G>C (p.Gly994Ala)
2g.26475969C>TCA346112882OTOFc.2936G>A (p.Gly979Glu)
c.695G>A (p.Gly232Glu)
c.866G>A (p.Gly289Glu)
c.2981G>A (p.Gly994Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26475970C>ACA346112887OTOFc.2935G>T (p.Gly979Ter)
c.694G>T (p.Gly232Ter)
c.865G>T (p.Gly289Ter)
c.2980G>T (p.Gly994Ter)
2g.26475970C=CA1239827732OTOFc.2935G= (p.Gly979=)
c.694G= (p.Gly232=)
c.865G= (p.Gly289=)
c.2980G= (p.Gly994=)
2g.26475970C>GCA346112895OTOFc.2935G>C (p.Gly979Arg)
c.694G>C (p.Gly232Arg)
c.865G>C (p.Gly289Arg)
c.2980G>C (p.Gly994Arg)
 gnomAD v4
2g.26475970C>TCA346112908OTOFc.2935G>A (p.Gly979Arg)
c.694G>A (p.Gly232Arg)
c.865G>A (p.Gly289Arg)
c.2980G>A (p.Gly994Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475971G>ACA1563720OTOFc.2934C>T (p.Ser978=)
c.693C>T (p.Ser231=)
c.864C>T (p.Ser288=)
c.2979C>T (p.Ser993=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475971G>CCA346112940OTOFc.2934C>G (p.Ser978Arg)
c.693C>G (p.Ser231Arg)
c.864C>G (p.Ser288Arg)
c.2979C>G (p.Ser993Arg)
2g.26475971G=CA1239827734OTOFc.2934C= (p.Ser978=)
c.693C= (p.Ser231=)
c.864C= (p.Ser288=)
c.2979C= (p.Ser993=)
2g.26475971G>TCA346112941OTOFc.2934C>A (p.Ser978Arg)
c.693C>A (p.Ser231Arg)
c.864C>A (p.Ser288Arg)
c.2979C>A (p.Ser993Arg)
2g.26475972C>ACA346112942OTOFc.2933G>T (p.Ser978Ile)
c.692G>T (p.Ser231Ile)
c.863G>T (p.Ser288Ile)
c.2978G>T (p.Ser993Ile)
2g.26475972C=CA1239827736OTOFc.2933G= (p.Ser978=)
c.692G= (p.Ser231=)
c.863G= (p.Ser288=)
c.2978G= (p.Ser993=)
2g.26475972C>GCA346112949OTOFc.2933G>C (p.Ser978Thr)
c.692G>C (p.Ser231Thr)
c.863G>C (p.Ser288Thr)
c.2978G>C (p.Ser993Thr)
2g.26475972C>TCA44397833OTOFc.2933G>A (p.Ser978Asn)
c.692G>A (p.Ser231Asn)
c.863G>A (p.Ser288Asn)
c.2978G>A (p.Ser993Asn)
 dbSNP
2g.26475973T>ACA346112956OTOFc.2932A>T (p.Ser978Cys)
c.691A>T (p.Ser231Cys)
c.862A>T (p.Ser288Cys)
c.2977A>T (p.Ser993Cys)
2g.26475973T>CCA346112959OTOFc.2932A>G (p.Ser978Gly)
c.691A>G (p.Ser231Gly)
c.862A>G (p.Ser288Gly)
c.2977A>G (p.Ser993Gly)
2g.26475973T>GCA346112993OTOFc.2932A>C (p.Ser978Arg)
c.691A>C (p.Ser231Arg)
c.862A>C (p.Ser288Arg)
c.2977A>C (p.Ser993Arg)
2g.26475974G>ACA1563721OTOFc.2931C>T (p.Ser977=)
c.690C>T (p.Ser230=)
c.861C>T (p.Ser287=)
c.2976C>T (p.Ser992=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475974G>CCA346113008OTOFc.2931C>G (p.Ser977Arg)
c.690C>G (p.Ser230Arg)
c.861C>G (p.Ser287Arg)
c.2976C>G (p.Ser992Arg)
2g.26475974G=CA1239827738OTOFc.2931C= (p.Ser977=)
c.690C= (p.Ser230=)
c.861C= (p.Ser287=)
c.2976C= (p.Ser992=)
2g.26475974G>TCA346112998OTOFc.2931C>A (p.Ser977Arg)
c.690C>A (p.Ser230Arg)
c.861C>A (p.Ser287Arg)
c.2976C>A (p.Ser992Arg)
2g.26475976_26475982delCA2658237139OTOFc.2925_2931del (p.Asp976AlafsTer22)
c.684_690del (p.Asp229AlafsTer22)
c.855_861del (p.Asp286AlafsTer22)
c.2970_2976del (p.Asp991AlafsTer22)
 gnomAD v4
2g.26475975C>ACA346113015OTOFc.2930G>T (p.Ser977Ile)
c.689G>T (p.Ser230Ile)
c.860G>T (p.Ser287Ile)
c.2975G>T (p.Ser992Ile)
2g.26475975C=CA1239827740OTOFc.2930G= (p.Ser977=)
c.689G= (p.Ser230=)
c.860G= (p.Ser287=)
c.2975G= (p.Ser992=)
2g.26475975C>GCA346113017OTOFc.2930G>C (p.Ser977Thr)
c.689G>C (p.Ser230Thr)
c.860G>C (p.Ser287Thr)
c.2975G>C (p.Ser992Thr)
2g.26475975C>TCA346113030OTOFc.2930G>A (p.Ser977Asn)
c.689G>A (p.Ser230Asn)
c.860G>A (p.Ser287Asn)
c.2975G>A (p.Ser992Asn)
 dbSNP
2g.26475976T>ACA346113032OTOFc.2929A>T (p.Ser977Cys)
c.688A>T (p.Ser230Cys)
c.859A>T (p.Ser287Cys)
c.2974A>T (p.Ser992Cys)
2g.26475976T>CCA346113035OTOFc.2929A>G (p.Ser977Gly)
c.688A>G (p.Ser230Gly)
c.859A>G (p.Ser287Gly)
c.2974A>G (p.Ser992Gly)
2g.26475976T>GCA346113040OTOFc.2929A>C (p.Ser977Arg)
c.688A>C (p.Ser230Arg)
c.859A>C (p.Ser287Arg)
c.2974A>C (p.Ser992Arg)
2g.26475977G>ACA1563722OTOFc.2928C>T (p.Asp976=)
c.687C>T (p.Asp229=)
c.858C>T (p.Asp286=)
c.2973C>T (p.Asp991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475977G>CCA346113046OTOFc.2928C>G (p.Asp976Glu)
c.687C>G (p.Asp229Glu)
c.858C>G (p.Asp286Glu)
c.2973C>G (p.Asp991Glu)
2g.26475977G=CA1239827744OTOFc.2928C= (p.Asp976=)
c.687C= (p.Asp229=)
c.858C= (p.Asp286=)
c.2973C= (p.Asp991=)
2g.26475977G>TCA346113059OTOFc.2928C>A (p.Asp976Glu)
c.687C>A (p.Asp229Glu)
c.858C>A (p.Asp286Glu)
c.2973C>A (p.Asp991Glu)
 dbSNP
2g.26475978T>ACA346113066OTOFc.2927A>T (p.Asp976Val)
c.686A>T (p.Asp229Val)
c.857A>T (p.Asp286Val)
c.2972A>T (p.Asp991Val)
2g.26475978T>CCA346113073OTOFc.2927A>G (p.Asp976Gly)
c.686A>G (p.Asp229Gly)
c.857A>G (p.Asp286Gly)
c.2972A>G (p.Asp991Gly)
2g.26475978T>GCA346113089OTOFc.2927A>C (p.Asp976Ala)
c.686A>C (p.Asp229Ala)
c.857A>C (p.Asp286Ala)
c.2972A>C (p.Asp991Ala)
2g.26475979C>ACA346113106OTOFc.2926G>T (p.Asp976Tyr)
c.685G>T (p.Asp229Tyr)
c.856G>T (p.Asp286Tyr)
c.2971G>T (p.Asp991Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26475979C=CA1239827747OTOFc.2926G= (p.Asp976=)
c.685G= (p.Asp229=)
c.856G= (p.Asp286=)
c.2971G= (p.Asp991=)
2g.26475979C>GCA346113105OTOFc.2926G>C (p.Asp976His)
c.685G>C (p.Asp229His)
c.856G>C (p.Asp286His)
c.2971G>C (p.Asp991His)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26475979C>TCA1563723OTOFc.2926G>A (p.Asp976Asn)
c.685G>A (p.Asp229Asn)
c.856G>A (p.Asp286Asn)
c.2971G>A (p.Asp991Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475980G>ACA1563724OTOFc.2925C>T (p.Ala975=)
c.684C>T (p.Ala228=)
c.855C>T (p.Ala285=)
c.2970C>T (p.Ala990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26475980G>CCA425359979OTOFc.2925C>G (p.Ala975=)
c.684C>G (p.Ala228=)
c.855C>G (p.Ala285=)
c.2970C>G (p.Ala990=)
2g.26475980G=CA1239827749OTOFc.2925C= (p.Ala975=)
c.684C= (p.Ala228=)
c.855C= (p.Ala285=)
c.2970C= (p.Ala990=)
2g.26475980G>TCA425359982OTOFc.2925C>A (p.Ala975=)
c.684C>A (p.Ala228=)
c.855C>A (p.Ala285=)
c.2970C>A (p.Ala990=)
 gnomAD v4
2g.26475981G>ACA44397837OTOFc.2924C>T (p.Ala975Val)
c.683C>T (p.Ala228Val)
c.854C>T (p.Ala285Val)
c.2969C>T (p.Ala990Val)
 ClinVar dbSNP gnomAD v4
2g.26475981G>CCA346113124OTOFc.2924C>G (p.Ala975Gly)
c.683C>G (p.Ala228Gly)
c.854C>G (p.Ala285Gly)
c.2969C>G (p.Ala990Gly)
2g.26475981G=CA1239827752OTOFc.2924C= (p.Ala975=)
c.683C= (p.Ala228=)
c.854C= (p.Ala285=)
c.2969C= (p.Ala990=)
2g.26475981G>TCA346113126OTOFc.2924C>A (p.Ala975Asp)
c.683C>A (p.Ala228Asp)
c.854C>A (p.Ala285Asp)
c.2969C>A (p.Ala990Asp)
2g.26475981_26476000delinsGCGGCAAAGAGGCTGCGGGCCA1239827751OTOFc.2905_2924delinsGCCCGCAGCCTCTTTGCCGC (p.Ala969=)
c.664_683delinsGCCCGCAGCCTCTTTGCCGC (p.Ala222=)
c.835_854delinsGCCCGCAGCCTCTTTGCCGC (p.Ala279=)
c.2950_2969delinsGCCCGCAGCCTCTTTGCCGC (p.Ala984=)
2g.26475982C>ACA346113129OTOFc.2923G>T (p.Ala975Ser)
c.682G>T (p.Ala228Ser)
c.853G>T (p.Ala285Ser)
c.2968G>T (p.Ala990Ser)
2g.26475982C=CA1239827754OTOFc.2923G= (p.Ala975=)
c.682G= (p.Ala228=)
c.853G= (p.Ala285=)
c.2968G= (p.Ala990=)
2g.26475982C>GCA346113136OTOFc.2923G>C (p.Ala975Pro)
c.682G>C (p.Ala228Pro)
c.853G>C (p.Ala285Pro)
c.2968G>C (p.Ala990Pro)
2g.26475982C>TCA1563725OTOFc.2923G>A (p.Ala975Thr)
c.682G>A (p.Ala228Thr)
c.853G>A (p.Ala285Thr)
c.2968G>A (p.Ala990Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475982_26476000delinsTGCGCTCGGAGCA345111OTOFc.2905_2923delinsCTCCGAGCGCA (p.Ala969LeufsTer30)
c.664_682delinsCTCCGAGCGCA (p.Ala222LeufsTer30)
c.835_853delinsCTCCGAGCGCA (p.Ala279LeufsTer30)
c.2950_2968delinsCTCCGAGCGCA (p.Ala984LeufsTer30)
 ClinVar dbSNP
2g.26475983G>ACA44397841OTOFc.2922C>T (p.Ala974=)
c.681C>T (p.Ala227=)
c.852C>T (p.Ala284=)
c.2967C>T (p.Ala989=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26475983G>CCA425359987OTOFc.2922C>G (p.Ala974=)
c.681C>G (p.Ala227=)
c.852C>G (p.Ala284=)
c.2967C>G (p.Ala989=)
 ClinVar dbSNP gnomAD v4
2g.26475983G=CA1239827758OTOFc.2922C= (p.Ala974=)
c.681C= (p.Ala227=)
c.852C= (p.Ala284=)
c.2967C= (p.Ala989=)
2g.26475983G>TCA1563726OTOFc.2922C>A (p.Ala974=)
c.681C>A (p.Ala227=)
c.852C>A (p.Ala284=)
c.2967C>A (p.Ala989=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475984delCA2576699412OTOFc.2922del (p.Ala975ProfsTer25)
c.681del (p.Ala228ProfsTer25)
c.852del (p.Ala285ProfsTer25)
c.2967del (p.Ala990ProfsTer25)
 gnomAD v4
2g.26475984G>ACA346113165OTOFc.2921C>T (p.Ala974Val)
c.680C>T (p.Ala227Val)
c.851C>T (p.Ala284Val)
c.2966C>T (p.Ala989Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26475984G>CCA346113169OTOFc.2921C>G (p.Ala974Gly)
c.680C>G (p.Ala227Gly)
c.851C>G (p.Ala284Gly)
c.2966C>G (p.Ala989Gly)
2g.26475984G=CA1239827760OTOFc.2921C= (p.Ala974=)
c.680C= (p.Ala227=)
c.851C= (p.Ala284=)
c.2966C= (p.Ala989=)
2g.26475984G>TCA346113170OTOFc.2921C>A (p.Ala974Asp)
c.680C>A (p.Ala227Asp)
c.851C>A (p.Ala284Asp)
c.2966C>A (p.Ala989Asp)
2g.26475985C>ACA346113173OTOFc.2920G>T (p.Ala974Ser)
c.679G>T (p.Ala227Ser)
c.850G>T (p.Ala284Ser)
c.2965G>T (p.Ala989Ser)
2g.26475985C>GCA346113183OTOFc.2920G>C (p.Ala974Pro)
c.679G>C (p.Ala227Pro)
c.850G>C (p.Ala284Pro)
c.2965G>C (p.Ala989Pro)
2g.26475985C>TCA346113184OTOFc.2920G>A (p.Ala974Thr)
c.679G>A (p.Ala227Thr)
c.850G>A (p.Ala284Thr)
c.2965G>A (p.Ala989Thr)
2g.26475985_26475987delinsCAACA1239827762OTOFc.2918_2920delinsTTG (p.Phe973=)
c.677_679delinsTTG (p.Phe226=)
c.848_850delinsTTG (p.Phe283=)
c.2963_2965delinsTTG (p.Phe988=)
2g.26475986A=CA1239827764OTOFc.2919T= (p.Phe973=)
c.678T= (p.Phe226=)
c.849T= (p.Phe283=)
c.2964T= (p.Phe988=)
2g.26475986A>CCA346113185OTOFc.2919T>G (p.Phe973Leu)
c.678T>G (p.Phe226Leu)
c.849T>G (p.Phe283Leu)
c.2964T>G (p.Phe988Leu)
2g.26475986A>GCA44397842OTOFc.2919T>C (p.Phe973=)
c.678T>C (p.Phe226=)
c.849T>C (p.Phe283=)
c.2964T>C (p.Phe988=)
 dbSNP gnomAD v3 gnomAD v4
2g.26475986A>TCA346113186OTOFc.2919T>A (p.Phe973Leu)
c.678T>A (p.Phe226Leu)
c.849T>A (p.Phe283Leu)
c.2964T>A (p.Phe988Leu)
2g.26475988dupCA2586968812OTOFc.2919dup (p.Ala974CysfsTer28)
c.678dup (p.Ala227CysfsTer28)
c.849dup (p.Ala284CysfsTer28)
c.2964dup (p.Ala989CysfsTer28)
2g.26475987_26475988delCA346113188OTOFc.2918_2919del (p.Phe973CysfsTer28)
c.677_678del (p.Phe226CysfsTer28)
c.848_849del (p.Phe283CysfsTer28)
c.2963_2964del (p.Phe988CysfsTer28)
 dbSNP
2g.26475987A>CCA346113193OTOFc.2918T>G (p.Phe973Cys)
c.677T>G (p.Phe226Cys)
c.848T>G (p.Phe283Cys)
c.2963T>G (p.Phe988Cys)
2g.26475987A>GCA346113195OTOFc.2918T>C (p.Phe973Ser)
c.677T>C (p.Phe226Ser)
c.848T>C (p.Phe283Ser)
c.2963T>C (p.Phe988Ser)
2g.26475987A>TCA346113194OTOFc.2918T>A (p.Phe973Tyr)
c.677T>A (p.Phe226Tyr)
c.848T>A (p.Phe283Tyr)
c.2963T>A (p.Phe988Tyr)
2g.26475988A>CCA346113197OTOFc.2917T>G (p.Phe973Val)
c.676T>G (p.Phe226Val)
c.847T>G (p.Phe283Val)
c.2962T>G (p.Phe988Val)
2g.26475988A>GCA346113201OTOFc.2917T>C (p.Phe973Leu)
c.676T>C (p.Phe226Leu)
c.847T>C (p.Phe283Leu)
c.2962T>C (p.Phe988Leu)
2g.26475988A>TCA346113207OTOFc.2917T>A (p.Phe973Ile)
c.676T>A (p.Phe226Ile)
c.847T>A (p.Phe283Ile)
c.2962T>A (p.Phe988Ile)
2g.26475989G>ACA425359999OTOFc.2916C>T (p.Leu972=)
c.675C>T (p.Leu225=)
c.846C>T (p.Leu282=)
c.2961C>T (p.Leu987=)
 gnomAD v4
2g.26475989G>CCA425360000OTOFc.2916C>G (p.Leu972=)
c.675C>G (p.Leu225=)
c.846C>G (p.Leu282=)
c.2961C>G (p.Leu987=)
 gnomAD v4
2g.26475989G>TCA425360001OTOFc.2916C>A (p.Leu972=)
c.675C>A (p.Leu225=)
c.846C>A (p.Leu282=)
c.2961C>A (p.Leu987=)
2g.26475990A>CCA346113212OTOFc.2915T>G (p.Leu972Arg)
c.674T>G (p.Leu225Arg)
c.845T>G (p.Leu282Arg)
c.2960T>G (p.Leu987Arg)
2g.26475990A>GCA346113216OTOFc.2915T>C (p.Leu972Pro)
c.674T>C (p.Leu225Pro)
c.845T>C (p.Leu282Pro)
c.2960T>C (p.Leu987Pro)
2g.26475990A>TCA346113221OTOFc.2915T>A (p.Leu972His)
c.674T>A (p.Leu225His)
c.845T>A (p.Leu282His)
c.2960T>A (p.Leu987His)
2g.26475991G>ACA346113232OTOFc.2914C>T (p.Leu972Phe)
c.673C>T (p.Leu225Phe)
c.844C>T (p.Leu282Phe)
c.2959C>T (p.Leu987Phe)
2g.26475991G>CCA346113235OTOFc.2914C>G (p.Leu972Val)
c.673C>G (p.Leu225Val)
c.844C>G (p.Leu282Val)
c.2959C>G (p.Leu987Val)
2g.26475991G>TCA346113261OTOFc.2914C>A (p.Leu972Ile)
c.673C>A (p.Leu225Ile)
c.844C>A (p.Leu282Ile)
c.2959C>A (p.Leu987Ile)

Number of alleles fetched