Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26475467G>ACA1563673OTOFc.3018C>T (p.Thr1006=)
c.777C>T (p.Thr259=)
c.948C>T (p.Thr316=)
c.3063C>T (p.Thr1021=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26475467G>CCA425204129OTOFc.3018C>G (p.Thr1006=)
c.777C>G (p.Thr259=)
c.948C>G (p.Thr316=)
c.3063C>G (p.Thr1021=)
2g.26475467G=CA1239827174OTOFc.3018C= (p.Thr1006=)
c.777C= (p.Thr259=)
c.948C= (p.Thr316=)
c.3063C= (p.Thr1021=)
2g.26475467G>TCA425204130OTOFc.3018C>A (p.Thr1006=)
c.777C>A (p.Thr259=)
c.948C>A (p.Thr316=)
c.3063C>A (p.Thr1021=)
2g.26475468G>ACA346110701OTOFc.3017C>T (p.Thr1006Ile)
c.776C>T (p.Thr259Ile)
c.947C>T (p.Thr316Ile)
c.3062C>T (p.Thr1021Ile)
2g.26475468G>CCA1563674OTOFc.3017C>G (p.Thr1006Ser)
c.776C>G (p.Thr259Ser)
c.947C>G (p.Thr316Ser)
c.3062C>G (p.Thr1021Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26475468G=CA1239827176OTOFc.3017C= (p.Thr1006=)
c.776C= (p.Thr259=)
c.947C= (p.Thr316=)
c.3062C= (p.Thr1021=)
2g.26475468G>TCA346110707OTOFc.3017C>A (p.Thr1006Asn)
c.776C>A (p.Thr259Asn)
c.947C>A (p.Thr316Asn)
c.3062C>A (p.Thr1021Asn)
2g.26475469T>ACA346110717OTOFc.3016A>T (p.Thr1006Ser)
c.775A>T (p.Thr259Ser)
c.946A>T (p.Thr316Ser)
c.3061A>T (p.Thr1021Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26475469T>CCA346110733OTOFc.3016A>G (p.Thr1006Ala)
c.775A>G (p.Thr259Ala)
c.946A>G (p.Thr316Ala)
c.3061A>G (p.Thr1021Ala)
2g.26475469T>GCA346110712OTOFc.3016A>C (p.Thr1006Pro)
c.775A>C (p.Thr259Pro)
c.946A>C (p.Thr316Pro)
c.3061A>C (p.Thr1021Pro)
2g.26475469T=CA1239827179OTOFc.3016A= (p.Thr1006=)
c.775A= (p.Thr259=)
c.946A= (p.Thr316=)
c.3061A= (p.Thr1021=)
2g.26475470G>ACA425204135OTOFc.3015C>T (p.Pro1005=)
c.774C>T (p.Pro258=)
c.945C>T (p.Pro315=)
c.3060C>T (p.Pro1020=)
 COSMIC COSMIC COSMIC
2g.26475470G>CCA425204138OTOFc.3015C>G (p.Pro1005=)
c.774C>G (p.Pro258=)
c.945C>G (p.Pro315=)
c.3060C>G (p.Pro1020=)
2g.26475470G>TCA425204140OTOFc.3015C>A (p.Pro1005=)
c.774C>A (p.Pro258=)
c.945C>A (p.Pro315=)
c.3060C>A (p.Pro1020=)
2g.26475471G>ACA346110735OTOFc.3014C>T (p.Pro1005Leu)
c.773C>T (p.Pro258Leu)
c.944C>T (p.Pro315Leu)
c.3059C>T (p.Pro1020Leu)
 COSMIC COSMIC COSMIC
2g.26475471G>CCA346110737OTOFc.3014C>G (p.Pro1005Arg)
c.773C>G (p.Pro258Arg)
c.944C>G (p.Pro315Arg)
c.3059C>G (p.Pro1020Arg)
 dbSNP
2g.26475471G=CA1239827181OTOFc.3014C= (p.Pro1005=)
c.773C= (p.Pro258=)
c.944C= (p.Pro315=)
c.3059C= (p.Pro1020=)
2g.26475471G>TCA346110739OTOFc.3014C>A (p.Pro1005His)
c.773C>A (p.Pro258His)
c.944C>A (p.Pro315His)
c.3059C>A (p.Pro1020His)
2g.26475472G>ACA346110741OTOFc.3013C>T (p.Pro1005Ser)
c.772C>T (p.Pro258Ser)
c.943C>T (p.Pro315Ser)
c.3058C>T (p.Pro1020Ser)
2g.26475472G>CCA346110744OTOFc.3013C>G (p.Pro1005Ala)
c.772C>G (p.Pro258Ala)
c.943C>G (p.Pro315Ala)
c.3058C>G (p.Pro1020Ala)
 ClinVar dbSNP
2g.26475472G=CA1239827183OTOFc.3013C= (p.Pro1005=)
c.772C= (p.Pro258=)
c.943C= (p.Pro315=)
c.3058C= (p.Pro1020=)
2g.26475472G>TCA346110758OTOFc.3013C>A (p.Pro1005Thr)
c.772C>A (p.Pro258Thr)
c.943C>A (p.Pro315Thr)
c.3058C>A (p.Pro1020Thr)
2g.26475473A>CCA346110762OTOFc.3012T>G (p.Cys1004Trp)
c.771T>G (p.Cys257Trp)
c.942T>G (p.Cys314Trp)
c.3057T>G (p.Cys1019Trp)
2g.26475473A>GCA425204151OTOFc.3012T>C (p.Cys1004=)
c.771T>C (p.Cys257=)
c.942T>C (p.Cys314=)
c.3057T>C (p.Cys1019=)
2g.26475473A>TCA346110763OTOFc.3012T>A (p.Cys1004Ter)
c.771T>A (p.Cys257Ter)
c.942T>A (p.Cys314Ter)
c.3057T>A (p.Cys1019Ter)
2g.26475474C>ACA346110764OTOFc.3011G>T (p.Cys1004Phe)
c.770G>T (p.Cys257Phe)
c.941G>T (p.Cys314Phe)
c.3056G>T (p.Cys1019Phe)
2g.26475474C=CA1239827184OTOFc.3011G= (p.Cys1004=)
c.770G= (p.Cys257=)
c.941G= (p.Cys314=)
c.3056G= (p.Cys1019=)
2g.26475474C>GCA346110765OTOFc.3011G>C (p.Cys1004Ser)
c.770G>C (p.Cys257Ser)
c.941G>C (p.Cys314Ser)
c.3056G>C (p.Cys1019Ser)
2g.26475474C>TCA346110768OTOFc.3011G>A (p.Cys1004Tyr)
c.770G>A (p.Cys257Tyr)
c.941G>A (p.Cys314Tyr)
c.3056G>A (p.Cys1019Tyr)
 dbSNP
2g.26475475A>CCA346110793OTOFc.3010T>G (p.Cys1004Gly)
c.769T>G (p.Cys257Gly)
c.940T>G (p.Cys314Gly)
c.3055T>G (p.Cys1019Gly)
2g.26475475A>GCA346110785OTOFc.3010T>C (p.Cys1004Arg)
c.769T>C (p.Cys257Arg)
c.940T>C (p.Cys314Arg)
c.3055T>C (p.Cys1019Arg)
2g.26475475A>TCA346110781OTOFc.3010T>A (p.Cys1004Ser)
c.769T>A (p.Cys257Ser)
c.940T>A (p.Cys314Ser)
c.3055T>A (p.Cys1019Ser)
2g.26475476C>ACA425204159OTOFc.3009G>T (p.Leu1003=)
c.768G>T (p.Leu256=)
c.939G>T (p.Leu313=)
c.3054G>T (p.Leu1018=)
2g.26475476C=CA1239827186OTOFc.3009G= (p.Leu1003=)
c.768G= (p.Leu256=)
c.939G= (p.Leu313=)
c.3054G= (p.Leu1018=)
2g.26475476C>GCA425204160OTOFc.3009G>C (p.Leu1003=)
c.768G>C (p.Leu256=)
c.939G>C (p.Leu313=)
c.3054G>C (p.Leu1018=)
 gnomAD v4
2g.26475476C>TCA425204161OTOFc.3009G>A (p.Leu1003=)
c.768G>A (p.Leu256=)
c.939G>A (p.Leu313=)
c.3054G>A (p.Leu1018=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26475477A=CA1239827188OTOFc.3008T= (p.Leu1003=)
c.767T= (p.Leu256=)
c.938T= (p.Leu313=)
c.3053T= (p.Leu1018=)
2g.26475477A>CCA44397638OTOFc.3008T>G (p.Leu1003Arg)
c.767T>G (p.Leu256Arg)
c.938T>G (p.Leu313Arg)
c.3053T>G (p.Leu1018Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26475477A>GCA346110805OTOFc.3008T>C (p.Leu1003Pro)
c.767T>C (p.Leu256Pro)
c.938T>C (p.Leu313Pro)
c.3053T>C (p.Leu1018Pro)
 dbSNP
2g.26475477A>TCA346110809OTOFc.3008T>A (p.Leu1003Gln)
c.767T>A (p.Leu256Gln)
c.938T>A (p.Leu313Gln)
c.3053T>A (p.Leu1018Gln)
2g.26475477_26475478delCA2586968811OTOFc.3007_3008del (p.Leu1003ValfsTer18)
c.766_767del (p.Leu256ValfsTer18)
c.937_938del (p.Leu313ValfsTer18)
c.3052_3053del (p.Leu1018ValfsTer18)
2g.26475478G>ACA425204165OTOFc.3007C>T (p.Leu1003=)
c.766C>T (p.Leu256=)
c.937C>T (p.Leu313=)
c.3052C>T (p.Leu1018=)
2g.26475478G>CCA346110812OTOFc.3007C>G (p.Leu1003Val)
c.766C>G (p.Leu256Val)
c.937C>G (p.Leu313Val)
c.3052C>G (p.Leu1018Val)
2g.26475478G>TCA346110814OTOFc.3007C>A (p.Leu1003Met)
c.766C>A (p.Leu256Met)
c.937C>A (p.Leu313Met)
c.3052C>A (p.Leu1018Met)
2g.26475479G>ACA425204166OTOFc.3006C>T (p.Thr1002=)
c.765C>T (p.Thr255=)
c.936C>T (p.Thr312=)
c.3051C>T (p.Thr1017=)
2g.26475479G>CCA425204167OTOFc.3006C>G (p.Thr1002=)
c.765C>G (p.Thr255=)
c.936C>G (p.Thr312=)
c.3051C>G (p.Thr1017=)
2g.26475479G>TCA425204168OTOFc.3006C>A (p.Thr1002=)
c.765C>A (p.Thr255=)
c.936C>A (p.Thr312=)
c.3051C>A (p.Thr1017=)
2g.26475480G>ACA346110819OTOFc.3005C>T (p.Thr1002Ile)
c.764C>T (p.Thr255Ile)
c.935C>T (p.Thr312Ile)
c.3050C>T (p.Thr1017Ile)
2g.26475480G>CCA346110826OTOFc.3005C>G (p.Thr1002Ser)
c.764C>G (p.Thr255Ser)
c.935C>G (p.Thr312Ser)
c.3050C>G (p.Thr1017Ser)

Number of alleles fetched