Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26461662G>ACA531761646OTOFc.5533+34C>T (n.5533+34C>T)
c.3232+34C>T (n.3232+34C>T)
c.3292+34C>T (n.3292+34C>T)
c.3463+34C>T (n.3463+34C>T)
c.5518+34C>T (n.5518+34C>T)
c.5578+34C>T (n.5578+34C>T)
c.5473+34C>T (n.5473+34C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26461662G=CA1239825366OTOFc.5533+34C= (n.5533+34C=)
c.3232+34C= (n.3232+34C=)
c.3292+34C= (n.3292+34C=)
c.3463+34C= (n.3463+34C=)
c.5518+34C= (n.5518+34C=)
c.5578+34C= (n.5578+34C=)
c.5473+34C= (n.5473+34C=)
2g.26461664T>ACA2576698802OTOFc.5533+32A>T (n.5533+32A>T)
c.3232+32A>T (n.3232+32A>T)
c.3292+32A>T (n.3292+32A>T)
c.3463+32A>T (n.3463+32A>T)
c.5518+32A>T (n.5518+32A>T)
c.5578+32A>T (n.5578+32A>T)
c.5473+32A>T (n.5473+32A>T)
2g.26461665C=CA1239825367OTOFc.5533+31G= (n.5533+31G=)
c.3232+31G= (n.3232+31G=)
c.3292+31G= (n.3292+31G=)
c.3463+31G= (n.3463+31G=)
c.5518+31G= (n.5518+31G=)
c.5578+31G= (n.5578+31G=)
c.5473+31G= (n.5473+31G=)
2g.26461665C>GCA1562795OTOFc.5533+31G>C (n.5533+31G>C)
c.3232+31G>C (n.3232+31G>C)
c.3292+31G>C (n.3292+31G>C)
c.3463+31G>C (n.3463+31G>C)
c.5518+31G>C (n.5518+31G>C)
c.5578+31G>C (n.5578+31G>C)
c.5473+31G>C (n.5473+31G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461666C>TCA2658232525OTOFc.5533+30G>A (n.5533+30G>A)
c.3232+30G>A (n.3232+30G>A)
c.3292+30G>A (n.3292+30G>A)
c.3463+30G>A (n.3463+30G>A)
c.5518+30G>A (n.5518+30G>A)
c.5578+30G>A (n.5578+30G>A)
c.5473+30G>A (n.5473+30G>A)
 gnomAD v4
2g.26461667T>ACA2658232528OTOFc.5533+29A>T (n.5533+29A>T)
c.3232+29A>T (n.3232+29A>T)
c.3292+29A>T (n.3292+29A>T)
c.3463+29A>T (n.3463+29A>T)
c.5518+29A>T (n.5518+29A>T)
c.5578+29A>T (n.5578+29A>T)
c.5473+29A>T (n.5473+29A>T)
 gnomAD v4
2g.26461667T>CCA1562796OTOFc.5533+29A>G (n.5533+29A>G)
c.3232+29A>G (n.3232+29A>G)
c.3292+29A>G (n.3292+29A>G)
c.3463+29A>G (n.3463+29A>G)
c.5518+29A>G (n.5518+29A>G)
c.5578+29A>G (n.5578+29A>G)
c.5473+29A>G (n.5473+29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461667T=CA1239825368OTOFc.5533+29A= (n.5533+29A=)
c.3232+29A= (n.3232+29A=)
c.3292+29A= (n.3292+29A=)
c.3463+29A= (n.3463+29A=)
c.5518+29A= (n.5518+29A=)
c.5578+29A= (n.5578+29A=)
c.5473+29A= (n.5473+29A=)
2g.26461668G>ACA531761648OTOFc.5533+28C>T (n.5533+28C>T)
c.3232+28C>T (n.3232+28C>T)
c.3292+28C>T (n.3292+28C>T)
c.3463+28C>T (n.3463+28C>T)
c.5518+28C>T (n.5518+28C>T)
c.5578+28C>T (n.5578+28C>T)
c.5473+28C>T (n.5473+28C>T)
 dbSNP gnomAD v2
2g.26461668G=CA1239825369OTOFc.5533+28C= (n.5533+28C=)
c.3232+28C= (n.3232+28C=)
c.3292+28C= (n.3292+28C=)
c.3463+28C= (n.3463+28C=)
c.5518+28C= (n.5518+28C=)
c.5578+28C= (n.5578+28C=)
c.5473+28C= (n.5473+28C=)
2g.26461668G>TCA2576698803OTOFc.5533+28C>A (n.5533+28C>A)
c.3232+28C>A (n.3232+28C>A)
c.3292+28C>A (n.3292+28C>A)
c.3463+28C>A (n.3463+28C>A)
c.5518+28C>A (n.5518+28C>A)
c.5578+28C>A (n.5578+28C>A)
c.5473+28C>A (n.5473+28C>A)
2g.26461669A>GCA2658232531OTOFc.5533+27T>C (n.5533+27T>C)
c.3232+27T>C (n.3232+27T>C)
c.3292+27T>C (n.3292+27T>C)
c.3463+27T>C (n.3463+27T>C)
c.5518+27T>C (n.5518+27T>C)
c.5578+27T>C (n.5578+27T>C)
c.5473+27T>C (n.5473+27T>C)
 gnomAD v4
2g.26461672C>ACA1562797OTOFc.5533+24G>T (n.5533+24G>T)
c.3232+24G>T (n.3232+24G>T)
c.3292+24G>T (n.3292+24G>T)
c.3463+24G>T (n.3463+24G>T)
c.5518+24G>T (n.5518+24G>T)
c.5578+24G>T (n.5578+24G>T)
c.5473+24G>T (n.5473+24G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461672C=CA1239825370OTOFc.5533+24G= (n.5533+24G=)
c.3232+24G= (n.3232+24G=)
c.3292+24G= (n.3292+24G=)
c.3463+24G= (n.3463+24G=)
c.5518+24G= (n.5518+24G=)
c.5578+24G= (n.5578+24G=)
c.5473+24G= (n.5473+24G=)
2g.26461673C>TCA2576698805OTOFc.5533+23G>A (n.5533+23G>A)
c.3232+23G>A (n.3232+23G>A)
c.3292+23G>A (n.3292+23G>A)
c.3463+23G>A (n.3463+23G>A)
c.5518+23G>A (n.5518+23G>A)
c.5578+23G>A (n.5578+23G>A)
c.5473+23G>A (n.5473+23G>A)
2g.26461674C>TCA646579995OTOFc.5533+22G>A (n.5533+22G>A)
c.3232+22G>A (n.3232+22G>A)
c.3292+22G>A (n.3292+22G>A)
c.3463+22G>A (n.3463+22G>A)
c.5518+22G>A (n.5518+22G>A)
c.5578+22G>A (n.5578+22G>A)
c.5473+22G>A (n.5473+22G>A)
 COSMIC
2g.26461675C>ACA2658232534OTOFc.5533+21G>T (n.5533+21G>T)
c.3232+21G>T (n.3232+21G>T)
c.3292+21G>T (n.3292+21G>T)
c.3463+21G>T (n.3463+21G>T)
c.5518+21G>T (n.5518+21G>T)
c.5578+21G>T (n.5578+21G>T)
c.5473+21G>T (n.5473+21G>T)
 gnomAD v4
2g.26461676A=CA1239825371OTOFc.5533+20T= (n.5533+20T=)
c.3232+20T= (n.3232+20T=)
c.3292+20T= (n.3292+20T=)
c.3463+20T= (n.3463+20T=)
c.5518+20T= (n.5518+20T=)
c.5578+20T= (n.5578+20T=)
c.5473+20T= (n.5473+20T=)
2g.26461676A>GCA1239825372OTOFc.5533+20T>C (n.5533+20T>C)
c.3232+20T>C (n.3232+20T>C)
c.3292+20T>C (n.3292+20T>C)
c.3463+20T>C (n.3463+20T>C)
c.5518+20T>C (n.5518+20T>C)
c.5578+20T>C (n.5578+20T>C)
c.5473+20T>C (n.5473+20T>C)
 dbSNP
2g.26461684_26461688dupCA2739274262OTOFc.5533+14_5533+18dup (n.5533+14_5533+18dup)
c.3232+14_3232+18dup (n.3232+14_3232+18dup)
c.3292+14_3292+18dup (n.3292+14_3292+18dup)
c.3463+14_3463+18dup (n.3463+14_3463+18dup)
c.5518+14_5518+18dup (n.5518+14_5518+18dup)
c.5578+14_5578+18dup (n.5578+14_5578+18dup)
c.5473+14_5473+18dup (n.5473+14_5473+18dup)
 ClinVar
2g.26461681T>CCA2658232536OTOFc.5533+15A>G (n.5533+15A>G)
c.3232+15A>G (n.3232+15A>G)
c.3292+15A>G (n.3292+15A>G)
c.3463+15A>G (n.3463+15A>G)
c.5518+15A>G (n.5518+15A>G)
c.5578+15A>G (n.5578+15A>G)
c.5473+15A>G (n.5473+15A>G)
 gnomAD v4
2g.26461683C=CA1239825373OTOFc.5533+13G= (n.5533+13G=)
c.3232+13G= (n.3232+13G=)
c.3292+13G= (n.3292+13G=)
c.3463+13G= (n.3463+13G=)
c.5518+13G= (n.5518+13G=)
c.5578+13G= (n.5578+13G=)
c.5473+13G= (n.5473+13G=)
2g.26461683C>TCA1239825374OTOFc.5533+13G>A (n.5533+13G>A)
c.3232+13G>A (n.3232+13G>A)
c.3292+13G>A (n.3292+13G>A)
c.3463+13G>A (n.3463+13G>A)
c.5518+13G>A (n.5518+13G>A)
c.5578+13G>A (n.5578+13G>A)
c.5473+13G>A (n.5473+13G>A)
 dbSNP gnomAD v4
2g.26461685C=CA1239825375OTOFc.5533+11G= (n.5533+11G=)
c.3232+11G= (n.3232+11G=)
c.3292+11G= (n.3292+11G=)
c.3463+11G= (n.3463+11G=)
c.5518+11G= (n.5518+11G=)
c.5578+11G= (n.5578+11G=)
c.5473+11G= (n.5473+11G=)
2g.26461685C>GCA1239825376OTOFc.5533+11G>C (n.5533+11G>C)
c.3232+11G>C (n.3232+11G>C)
c.3292+11G>C (n.3292+11G>C)
c.3463+11G>C (n.3463+11G>C)
c.5518+11G>C (n.5518+11G>C)
c.5578+11G>C (n.5578+11G>C)
c.5473+11G>C (n.5473+11G>C)
 dbSNP
2g.26461685C>TCA1562798OTOFc.5533+11G>A (n.5533+11G>A)
c.3232+11G>A (n.3232+11G>A)
c.3292+11G>A (n.3292+11G>A)
c.3463+11G>A (n.3463+11G>A)
c.5518+11G>A (n.5518+11G>A)
c.5578+11G>A (n.5578+11G>A)
c.5473+11G>A (n.5473+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461686T>GCA1239825378OTOFc.5533+10A>C (n.5533+10A>C)
c.3232+10A>C (n.3232+10A>C)
c.3292+10A>C (n.3292+10A>C)
c.3463+10A>C (n.3463+10A>C)
c.5518+10A>C (n.5518+10A>C)
c.5578+10A>C (n.5578+10A>C)
c.5473+10A>C (n.5473+10A>C)
 dbSNP
2g.26461686T=CA1239825377OTOFc.5533+10A= (n.5533+10A=)
c.3232+10A= (n.3232+10A=)
c.3292+10A= (n.3292+10A=)
c.3463+10A= (n.3463+10A=)
c.5518+10A= (n.5518+10A=)
c.5578+10A= (n.5578+10A=)
c.5473+10A= (n.5473+10A=)
2g.26461687G>CCA2697547848OTOFc.5533+9C>G (n.5533+9C>G)
c.3232+9C>G (n.3232+9C>G)
c.3292+9C>G (n.3292+9C>G)
c.3463+9C>G (n.3463+9C>G)
c.5518+9C>G (n.5518+9C>G)
c.5578+9C>G (n.5578+9C>G)
c.5473+9C>G (n.5473+9C>G)
 ClinVar
2g.26461690C>ACA2658232543OTOFc.5533+6G>T (n.5533+6G>T)
c.3232+6G>T (n.3232+6G>T)
c.3292+6G>T (n.3292+6G>T)
c.3463+6G>T (n.3463+6G>T)
c.5518+6G>T (n.5518+6G>T)
c.5578+6G>T (n.5578+6G>T)
c.5473+6G>T (n.5473+6G>T)
 gnomAD v4
2g.26461690C=CA1239825379OTOFc.5533+6G= (n.5533+6G=)
c.3232+6G= (n.3232+6G=)
c.3292+6G= (n.3292+6G=)
c.3463+6G= (n.3463+6G=)
c.5518+6G= (n.5518+6G=)
c.5578+6G= (n.5578+6G=)
c.5473+6G= (n.5473+6G=)
2g.26461690C>GCA1562799OTOFc.5533+6G>C (n.5533+6G>C)
c.3232+6G>C (n.3232+6G>C)
c.3292+6G>C (n.3292+6G>C)
c.3463+6G>C (n.3463+6G>C)
c.5518+6G>C (n.5518+6G>C)
c.5578+6G>C (n.5578+6G>C)
c.5473+6G>C (n.5473+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461690C>TCA1239825380OTOFc.5533+6G>A (n.5533+6G>A)
c.3232+6G>A (n.3232+6G>A)
c.3292+6G>A (n.3292+6G>A)
c.3463+6G>A (n.3463+6G>A)
c.5518+6G>A (n.5518+6G>A)
c.5578+6G>A (n.5578+6G>A)
c.5473+6G>A (n.5473+6G>A)
 dbSNP
2g.26461691T>CCA1562800OTOFc.5533+5A>G (n.5533+5A>G)
c.3232+5A>G (n.3232+5A>G)
c.3292+5A>G (n.3292+5A>G)
c.3463+5A>G (n.3463+5A>G)
c.5518+5A>G (n.5518+5A>G)
c.5578+5A>G (n.5578+5A>G)
c.5473+5A>G (n.5473+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461691T=CA1239825381OTOFc.5533+5A= (n.5533+5A=)
c.3232+5A= (n.3232+5A=)
c.3292+5A= (n.3292+5A=)
c.3463+5A= (n.3463+5A=)
c.5518+5A= (n.5518+5A=)
c.5578+5A= (n.5578+5A=)
c.5473+5A= (n.5473+5A=)
2g.26461693C>TCA2658232549OTOFc.5533+3G>A (n.5533+3G>A)
c.3232+3G>A (n.3232+3G>A)
c.3292+3G>A (n.3292+3G>A)
c.3463+3G>A (n.3463+3G>A)
c.5518+3G>A (n.5518+3G>A)
c.5578+3G>A (n.5578+3G>A)
c.5473+3G>A (n.5473+3G>A)
 gnomAD v4
2g.26461694A>CCA346131235OTOFc.5533+2T>G (n.5533+2T>G)
c.3232+2T>G (n.3232+2T>G)
c.3292+2T>G (n.3292+2T>G)
c.3463+2T>G (n.3463+2T>G)
c.5518+2T>G (n.5518+2T>G)
c.5578+2T>G (n.5578+2T>G)
c.5473+2T>G (n.5473+2T>G)
2g.26461694A>GCA346131236OTOFc.5533+2T>C (n.5533+2T>C)
c.3232+2T>C (n.3232+2T>C)
c.3292+2T>C (n.3292+2T>C)
c.3463+2T>C (n.3463+2T>C)
c.5518+2T>C (n.5518+2T>C)
c.5578+2T>C (n.5578+2T>C)
c.5473+2T>C (n.5473+2T>C)
2g.26461694A>TCA346131237OTOFc.5533+2T>A (n.5533+2T>A)
c.3232+2T>A (n.3232+2T>A)
c.3292+2T>A (n.3292+2T>A)
c.3463+2T>A (n.3463+2T>A)
c.5518+2T>A (n.5518+2T>A)
c.5578+2T>A (n.5578+2T>A)
c.5473+2T>A (n.5473+2T>A)
2g.26461695C>ACA346131238OTOFc.5533+1G>T (n.5533+1G>T)
c.3232+1G>T (n.3232+1G>T)
c.3292+1G>T (n.3292+1G>T)
c.3463+1G>T (n.3463+1G>T)
c.5518+1G>T (n.5518+1G>T)
c.5578+1G>T (n.5578+1G>T)
c.5473+1G>T (n.5473+1G>T)
2g.26461695C=CA1239825382OTOFc.5533+1G= (n.5533+1G=)
c.3232+1G= (n.3232+1G=)
c.3292+1G= (n.3292+1G=)
c.3463+1G= (n.3463+1G=)
c.5518+1G= (n.5518+1G=)
c.5578+1G= (n.5578+1G=)
c.5473+1G= (n.5473+1G=)
2g.26461695C>GCA346131239OTOFc.5533+1G>C (n.5533+1G>C)
c.3232+1G>C (n.3232+1G>C)
c.3292+1G>C (n.3292+1G>C)
c.3463+1G>C (n.3463+1G>C)
c.5518+1G>C (n.5518+1G>C)
c.5578+1G>C (n.5578+1G>C)
c.5473+1G>C (n.5473+1G>C)
2g.26461695C>TCA346131240OTOFc.5533+1G>A (n.5533+1G>A)
c.3232+1G>A (n.3232+1G>A)
c.3292+1G>A (n.3292+1G>A)
c.3463+1G>A (n.3463+1G>A)
c.5518+1G>A (n.5518+1G>A)
c.5578+1G>A (n.5578+1G>A)
c.5473+1G>A (n.5473+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26461696C>ACA346131243OTOFc.5533G>T (p.Gly1845Trp)
c.3232G>T (p.Gly1078Trp)
c.3292G>T (p.Gly1098Trp)
c.3463G>T (p.Gly1155Trp)
c.5518G>T (p.Gly1840Trp)
c.5578G>T (p.Gly1860Trp)
c.5473G>T (p.Gly1825Trp)
2g.26461696C>GCA346131242OTOFc.5533G>C (p.Gly1845Arg)
c.3232G>C (p.Gly1078Arg)
c.3292G>C (p.Gly1098Arg)
c.3463G>C (p.Gly1155Arg)
c.5518G>C (p.Gly1840Arg)
c.5578G>C (p.Gly1860Arg)
c.5473G>C (p.Gly1825Arg)
2g.26461696C>TCA346131241OTOFc.5533G>A (p.Gly1845Arg)
c.3232G>A (p.Gly1078Arg)
c.3292G>A (p.Gly1098Arg)
c.3463G>A (p.Gly1155Arg)
c.5518G>A (p.Gly1840Arg)
c.5578G>A (p.Gly1860Arg)
c.5473G>A (p.Gly1825Arg)
2g.26461697C>ACA425359119OTOFc.5532G>T (p.Leu1844=)
c.3231G>T (p.Leu1077=)
c.3291G>T (p.Leu1097=)
c.3462G>T (p.Leu1154=)
c.5517G>T (p.Leu1839=)
c.5577G>T (p.Leu1859=)
c.5472G>T (p.Leu1824=)
2g.26461697C>GCA425359120OTOFc.5532G>C (p.Leu1844=)
c.3231G>C (p.Leu1077=)
c.3291G>C (p.Leu1097=)
c.3462G>C (p.Leu1154=)
c.5517G>C (p.Leu1839=)
c.5577G>C (p.Leu1859=)
c.5472G>C (p.Leu1824=)
2g.26461697C>TCA425359121OTOFc.5532G>A (p.Leu1844=)
c.3231G>A (p.Leu1077=)
c.3291G>A (p.Leu1097=)
c.3462G>A (p.Leu1154=)
c.5517G>A (p.Leu1839=)
c.5577G>A (p.Leu1859=)
c.5472G>A (p.Leu1824=)
2g.26461697_26461698delinsCACA1239825383OTOFc.5531_5532delinsTG (p.Leu1844=)
c.3230_3231delinsTG (p.Leu1077=)
c.3290_3291delinsTG (p.Leu1097=)
c.3461_3462delinsTG (p.Leu1154=)
c.5516_5517delinsTG (p.Leu1839=)
c.5576_5577delinsTG (p.Leu1859=)
c.5471_5472delinsTG (p.Leu1824=)
2g.26461698delCA767290280OTOFc.5531del (p.Leu1844ArgfsTer8)
c.3230del (p.Leu1077ArgfsTer8)
c.3290del (p.Leu1097ArgfsTer8)
c.3461del (p.Leu1154ArgfsTer8)
c.5516del (p.Leu1839ArgfsTer8)
c.5576del (p.Leu1859ArgfsTer8)
c.5471del (p.Leu1824ArgfsTer8)
 ClinVar dbSNP
2g.26461698A>CCA346131244OTOFc.5531T>G (p.Leu1844Arg)
c.3230T>G (p.Leu1077Arg)
c.3290T>G (p.Leu1097Arg)
c.3461T>G (p.Leu1154Arg)
c.5516T>G (p.Leu1839Arg)
c.5576T>G (p.Leu1859Arg)
c.5471T>G (p.Leu1824Arg)
 gnomAD v4
2g.26461698A>GCA346131245OTOFc.5531T>C (p.Leu1844Pro)
c.3230T>C (p.Leu1077Pro)
c.3290T>C (p.Leu1097Pro)
c.3461T>C (p.Leu1154Pro)
c.5516T>C (p.Leu1839Pro)
c.5576T>C (p.Leu1859Pro)
c.5471T>C (p.Leu1824Pro)
2g.26461698A>TCA346131246OTOFc.5531T>A (p.Leu1844Gln)
c.3230T>A (p.Leu1077Gln)
c.3290T>A (p.Leu1097Gln)
c.3461T>A (p.Leu1154Gln)
c.5516T>A (p.Leu1839Gln)
c.5576T>A (p.Leu1859Gln)
c.5471T>A (p.Leu1824Gln)
2g.26461699G>ACA44409002OTOFc.5530C>T (p.Leu1844=)
c.3229C>T (p.Leu1077=)
c.3289C>T (p.Leu1097=)
c.3460C>T (p.Leu1154=)
c.5515C>T (p.Leu1839=)
c.5575C>T (p.Leu1859=)
c.5470C>T (p.Leu1824=)
 dbSNP
2g.26461699G>CCA346131247OTOFc.5530C>G (p.Leu1844Val)
c.3229C>G (p.Leu1077Val)
c.3289C>G (p.Leu1097Val)
c.3460C>G (p.Leu1154Val)
c.5515C>G (p.Leu1839Val)
c.5575C>G (p.Leu1859Val)
c.5470C>G (p.Leu1824Val)
2g.26461699G=CA1239825384OTOFc.5530C= (p.Leu1844=)
c.3229C= (p.Leu1077=)
c.3289C= (p.Leu1097=)
c.3460C= (p.Leu1154=)
c.5515C= (p.Leu1839=)
c.5575C= (p.Leu1859=)
c.5470C= (p.Leu1824=)
2g.26461699G>TCA346131248OTOFc.5530C>A (p.Leu1844Met)
c.3229C>A (p.Leu1077Met)
c.3289C>A (p.Leu1097Met)
c.3460C>A (p.Leu1154Met)
c.5515C>A (p.Leu1839Met)
c.5575C>A (p.Leu1859Met)
c.5470C>A (p.Leu1824Met)
2g.26461700G>ACA425359143OTOFc.5529C>T (p.Phe1843=)
c.3228C>T (p.Phe1076=)
c.3288C>T (p.Phe1096=)
c.3459C>T (p.Phe1153=)
c.5514C>T (p.Phe1838=)
c.5574C>T (p.Phe1858=)
c.5469C>T (p.Phe1823=)
2g.26461700G>CCA346131249OTOFc.5529C>G (p.Phe1843Leu)
c.3228C>G (p.Phe1076Leu)
c.3288C>G (p.Phe1096Leu)
c.3459C>G (p.Phe1153Leu)
c.5514C>G (p.Phe1838Leu)
c.5574C>G (p.Phe1858Leu)
c.5469C>G (p.Phe1823Leu)
2g.26461700G>TCA346131250OTOFc.5529C>A (p.Phe1843Leu)
c.3228C>A (p.Phe1076Leu)
c.3288C>A (p.Phe1096Leu)
c.3459C>A (p.Phe1153Leu)
c.5514C>A (p.Phe1838Leu)
c.5574C>A (p.Phe1858Leu)
c.5469C>A (p.Phe1823Leu)
2g.26461701A>CCA346131251OTOFc.5528T>G (p.Phe1843Cys)
c.3227T>G (p.Phe1076Cys)
c.3287T>G (p.Phe1096Cys)
c.3458T>G (p.Phe1153Cys)
c.5513T>G (p.Phe1838Cys)
c.5573T>G (p.Phe1858Cys)
c.5468T>G (p.Phe1823Cys)
2g.26461701A>GCA346131252OTOFc.5528T>C (p.Phe1843Ser)
c.3227T>C (p.Phe1076Ser)
c.3287T>C (p.Phe1096Ser)
c.3458T>C (p.Phe1153Ser)
c.5513T>C (p.Phe1838Ser)
c.5573T>C (p.Phe1858Ser)
c.5468T>C (p.Phe1823Ser)
2g.26461701A>TCA346131253OTOFc.5528T>A (p.Phe1843Tyr)
c.3227T>A (p.Phe1076Tyr)
c.3287T>A (p.Phe1096Tyr)
c.3458T>A (p.Phe1153Tyr)
c.5513T>A (p.Phe1838Tyr)
c.5573T>A (p.Phe1858Tyr)
c.5468T>A (p.Phe1823Tyr)
2g.26461702A>CCA346131254OTOFc.5527T>G (p.Phe1843Val)
c.3226T>G (p.Phe1076Val)
c.3286T>G (p.Phe1096Val)
c.3457T>G (p.Phe1153Val)
c.5512T>G (p.Phe1838Val)
c.5572T>G (p.Phe1858Val)
c.5467T>G (p.Phe1823Val)
2g.26461702A>GCA346131255OTOFc.5527T>C (p.Phe1843Leu)
c.3226T>C (p.Phe1076Leu)
c.3286T>C (p.Phe1096Leu)
c.3457T>C (p.Phe1153Leu)
c.5512T>C (p.Phe1838Leu)
c.5572T>C (p.Phe1858Leu)
c.5467T>C (p.Phe1823Leu)
2g.26461702A>TCA346131256OTOFc.5527T>A (p.Phe1843Ile)
c.3226T>A (p.Phe1076Ile)
c.3286T>A (p.Phe1096Ile)
c.3457T>A (p.Phe1153Ile)
c.5512T>A (p.Phe1838Ile)
c.5572T>A (p.Phe1858Ile)
c.5467T>A (p.Phe1823Ile)
2g.26461702_26461705delinsAGTCCA1239825385OTOFc.5524_5527delinsGACT (p.Asp1842=)
c.3223_3226delinsGACT (p.Asp1075=)
c.3283_3286delinsGACT (p.Asp1095=)
c.3454_3457delinsGACT (p.Asp1152=)
c.5509_5512delinsGACT (p.Asp1837=)
c.5569_5572delinsGACT (p.Asp1857=)
c.5464_5467delinsGACT (p.Asp1822=)
2g.26461703G>ACA425359158OTOFc.5526C>T (p.Asp1842=)
c.3225C>T (p.Asp1075=)
c.3285C>T (p.Asp1095=)
c.3456C>T (p.Asp1152=)
c.5511C>T (p.Asp1837=)
c.5571C>T (p.Asp1857=)
c.5466C>T (p.Asp1822=)
2g.26461703G>CCA346131258OTOFc.5526C>G (p.Asp1842Glu)
c.3225C>G (p.Asp1075Glu)
c.3285C>G (p.Asp1095Glu)
c.3456C>G (p.Asp1152Glu)
c.5511C>G (p.Asp1837Glu)
c.5571C>G (p.Asp1857Glu)
c.5466C>G (p.Asp1822Glu)
2g.26461703G>TCA346131257OTOFc.5526C>A (p.Asp1842Glu)
c.3225C>A (p.Asp1075Glu)
c.3285C>A (p.Asp1095Glu)
c.3456C>A (p.Asp1152Glu)
c.5511C>A (p.Asp1837Glu)
c.5571C>A (p.Asp1857Glu)
c.5466C>A (p.Asp1822Glu)
2g.26461706_26461708delCA1239825386OTOFc.5524_5526del (p.Asp1842del)
c.3223_3225del (p.Asp1075del)
c.3283_3285del (p.Asp1095del)
c.3454_3456del (p.Asp1152del)
c.5509_5511del (p.Asp1837del)
c.5569_5571del (p.Asp1857del)
c.5464_5466del (p.Asp1822del)
 dbSNP gnomAD v4
2g.26461704T>ACA346131259OTOFc.5525A>T (p.Asp1842Val)
c.3224A>T (p.Asp1075Val)
c.3284A>T (p.Asp1095Val)
c.3455A>T (p.Asp1152Val)
c.5510A>T (p.Asp1837Val)
c.5570A>T (p.Asp1857Val)
c.5465A>T (p.Asp1822Val)
2g.26461704T>CCA346131260OTOFc.5525A>G (p.Asp1842Gly)
c.3224A>G (p.Asp1075Gly)
c.3284A>G (p.Asp1095Gly)
c.3455A>G (p.Asp1152Gly)
c.5510A>G (p.Asp1837Gly)
c.5570A>G (p.Asp1857Gly)
c.5465A>G (p.Asp1822Gly)
2g.26461704T>GCA346131261OTOFc.5525A>C (p.Asp1842Ala)
c.3224A>C (p.Asp1075Ala)
c.3284A>C (p.Asp1095Ala)
c.3455A>C (p.Asp1152Ala)
c.5510A>C (p.Asp1837Ala)
c.5570A>C (p.Asp1857Ala)
c.5465A>C (p.Asp1822Ala)
2g.26461705C>ACA346131262OTOFc.5524G>T (p.Asp1842Tyr)
c.3223G>T (p.Asp1075Tyr)
c.3283G>T (p.Asp1095Tyr)
c.3454G>T (p.Asp1152Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5464G>T (p.Asp1822Tyr)
2g.26461705C=CA1239825387OTOFc.5524G= (p.Asp1842=)
c.3223G= (p.Asp1075=)
c.3283G= (p.Asp1095=)
c.3454G= (p.Asp1152=)
c.5509G= (p.Asp1837=)
c.5569G= (p.Asp1857=)
c.5464G= (p.Asp1822=)
2g.26461705C>GCA346131263OTOFc.5524G>C (p.Asp1842His)
c.3223G>C (p.Asp1075His)
c.3283G>C (p.Asp1095His)
c.3454G>C (p.Asp1152His)
c.5509G>C (p.Asp1837His)
c.5569G>C (p.Asp1857His)
c.5464G>C (p.Asp1822His)
2g.26461705C>TCA346131264OTOFc.5524G>A (p.Asp1842Asn)
c.3223G>A (p.Asp1075Asn)
c.3283G>A (p.Asp1095Asn)
c.3454G>A (p.Asp1152Asn)
c.5509G>A (p.Asp1837Asn)
c.5569G>A (p.Asp1857Asn)
c.5464G>A (p.Asp1822Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26461706G>ACA1562801OTOFc.5523C>T (p.Asp1841=)
c.3222C>T (p.Asp1074=)
c.3282C>T (p.Asp1094=)
c.3453C>T (p.Asp1151=)
c.5508C>T (p.Asp1836=)
c.5568C>T (p.Asp1856=)
c.5463C>T (p.Asp1821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461706G>CCA346131265OTOFc.5523C>G (p.Asp1841Glu)
c.3222C>G (p.Asp1074Glu)
c.3282C>G (p.Asp1094Glu)
c.3453C>G (p.Asp1151Glu)
c.5508C>G (p.Asp1836Glu)
c.5568C>G (p.Asp1856Glu)
c.5463C>G (p.Asp1821Glu)
2g.26461706G=CA1239825388OTOFc.5523C= (p.Asp1841=)
c.3222C= (p.Asp1074=)
c.3282C= (p.Asp1094=)
c.3453C= (p.Asp1151=)
c.5508C= (p.Asp1836=)
c.5568C= (p.Asp1856=)
c.5463C= (p.Asp1821=)
2g.26461706G>TCA346131266OTOFc.5523C>A (p.Asp1841Glu)
c.3222C>A (p.Asp1074Glu)
c.3282C>A (p.Asp1094Glu)
c.3453C>A (p.Asp1151Glu)
c.5508C>A (p.Asp1836Glu)
c.5568C>A (p.Asp1856Glu)
c.5463C>A (p.Asp1821Glu)
2g.26461707T>ACA346131267OTOFc.5522A>T (p.Asp1841Val)
c.3221A>T (p.Asp1074Val)
c.3281A>T (p.Asp1094Val)
c.3452A>T (p.Asp1151Val)
c.5507A>T (p.Asp1836Val)
c.5567A>T (p.Asp1856Val)
c.5462A>T (p.Asp1821Val)
 gnomAD v4
2g.26461707T>CCA346131268OTOFc.5522A>G (p.Asp1841Gly)
c.3221A>G (p.Asp1074Gly)
c.3281A>G (p.Asp1094Gly)
c.3452A>G (p.Asp1151Gly)
c.5507A>G (p.Asp1836Gly)
c.5567A>G (p.Asp1856Gly)
c.5462A>G (p.Asp1821Gly)
2g.26461707T>GCA346131269OTOFc.5522A>C (p.Asp1841Ala)
c.3221A>C (p.Asp1074Ala)
c.3281A>C (p.Asp1094Ala)
c.3452A>C (p.Asp1151Ala)
c.5507A>C (p.Asp1836Ala)
c.5567A>C (p.Asp1856Ala)
c.5462A>C (p.Asp1821Ala)
2g.26461708C>ACA346131271OTOFc.5521G>T (p.Asp1841Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3280G>T (p.Asp1094Tyr)
c.3451G>T (p.Asp1151Tyr)
c.5506G>T (p.Asp1836Tyr)
c.5566G>T (p.Asp1856Tyr)
c.5461G>T (p.Asp1821Tyr)
2g.26461708C>GCA346131272OTOFc.5521G>C (p.Asp1841His)
c.3220G>C (p.Asp1074His)
c.3280G>C (p.Asp1094His)
c.3451G>C (p.Asp1151His)
c.5506G>C (p.Asp1836His)
c.5566G>C (p.Asp1856His)
c.5461G>C (p.Asp1821His)
2g.26461708C>TCA346131270OTOFc.5521G>A (p.Asp1841Asn)
c.3220G>A (p.Asp1074Asn)
c.3280G>A (p.Asp1094Asn)
c.3451G>A (p.Asp1151Asn)
c.5506G>A (p.Asp1836Asn)
c.5566G>A (p.Asp1856Asn)
c.5461G>A (p.Asp1821Asn)
2g.26461708_26461709delinsCACA1239825389OTOFc.5520_5521delinsTG (p.Ala1840=)
c.3219_3220delinsTG (p.Ala1073=)
c.3279_3280delinsTG (p.Ala1093=)
c.3450_3451delinsTG (p.Ala1150=)
c.5505_5506delinsTG (p.Ala1835=)
c.5565_5566delinsTG (p.Ala1855=)
c.5460_5461delinsTG (p.Ala1820=)
2g.26461709delCA1562802OTOFc.5520del (p.Asp1841ThrfsTer11)
c.3219del (p.Asp1074ThrfsTer11)
c.3279del (p.Asp1094ThrfsTer11)
c.3450del (p.Asp1151ThrfsTer11)
c.5505del (p.Asp1836ThrfsTer11)
c.5565del (p.Asp1856ThrfsTer11)
c.5460del (p.Asp1821ThrfsTer11)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461709A=CA1239825390OTOFc.5520T= (p.Ala1840=)
c.3219T= (p.Ala1073=)
c.3279T= (p.Ala1093=)
c.3450T= (p.Ala1150=)
c.5505T= (p.Ala1835=)
c.5565T= (p.Ala1855=)
c.5460T= (p.Ala1820=)
2g.26461709A>CCA425359195OTOFc.5520T>G (p.Ala1840=)
c.3219T>G (p.Ala1073=)
c.3279T>G (p.Ala1093=)
c.3450T>G (p.Ala1150=)
c.5505T>G (p.Ala1835=)
c.5565T>G (p.Ala1855=)
c.5460T>G (p.Ala1820=)
 dbSNP gnomAD v2
2g.26461709A>GCA425359190OTOFc.5520T>C (p.Ala1840=)
c.3219T>C (p.Ala1073=)
c.3279T>C (p.Ala1093=)
c.3450T>C (p.Ala1150=)
c.5505T>C (p.Ala1835=)
c.5565T>C (p.Ala1855=)
c.5460T>C (p.Ala1820=)
2g.26461709A>TCA44409049OTOFc.5520T>A (p.Ala1840=)
c.3219T>A (p.Ala1073=)
c.3279T>A (p.Ala1093=)
c.3450T>A (p.Ala1150=)
c.5505T>A (p.Ala1835=)
c.5565T>A (p.Ala1855=)
c.5460T>A (p.Ala1820=)
 dbSNP gnomAD v4
2g.26461710G>ACA346131273OTOFc.5519C>T (p.Ala1840Val)
c.3218C>T (p.Ala1073Val)
c.3278C>T (p.Ala1093Val)
c.3449C>T (p.Ala1150Val)
c.5504C>T (p.Ala1835Val)
c.5564C>T (p.Ala1855Val)
c.5459C>T (p.Ala1820Val)
2g.26461710G>CCA346131274OTOFc.5519C>G (p.Ala1840Gly)
c.3218C>G (p.Ala1073Gly)
c.3278C>G (p.Ala1093Gly)
c.3449C>G (p.Ala1150Gly)
c.5504C>G (p.Ala1835Gly)
c.5564C>G (p.Ala1855Gly)
c.5459C>G (p.Ala1820Gly)
2g.26461710G>TCA346131275OTOFc.5519C>A (p.Ala1840Asp)
c.3218C>A (p.Ala1073Asp)
c.3278C>A (p.Ala1093Asp)
c.3449C>A (p.Ala1150Asp)
c.5504C>A (p.Ala1835Asp)
c.5564C>A (p.Ala1855Asp)
c.5459C>A (p.Ala1820Asp)
2g.26461711C>ACA346131277OTOFc.5518G>T (p.Ala1840Ser)
c.3217G>T (p.Ala1073Ser)
c.3277G>T (p.Ala1093Ser)
c.3448G>T (p.Ala1150Ser)
c.5503G>T (p.Ala1835Ser)
c.5563G>T (p.Ala1855Ser)
c.5458G>T (p.Ala1820Ser)
2g.26461711C=CA1239825391OTOFc.5518G= (p.Ala1840=)
c.3217G= (p.Ala1073=)
c.3277G= (p.Ala1093=)
c.3448G= (p.Ala1150=)
c.5503G= (p.Ala1835=)
c.5563G= (p.Ala1855=)
c.5458G= (p.Ala1820=)
2g.26461711C>GCA346131276OTOFc.5518G>C (p.Ala1840Pro)
c.3217G>C (p.Ala1073Pro)
c.3277G>C (p.Ala1093Pro)
c.3448G>C (p.Ala1150Pro)
c.5503G>C (p.Ala1835Pro)
c.5563G>C (p.Ala1855Pro)
c.5458G>C (p.Ala1820Pro)
2g.26461711C>TCA1562803OTOFc.5518G>A (p.Ala1840Thr)
c.3217G>A (p.Ala1073Thr)
c.3277G>A (p.Ala1093Thr)
c.3448G>A (p.Ala1150Thr)
c.5503G>A (p.Ala1835Thr)
c.5563G>A (p.Ala1855Thr)
c.5458G>A (p.Ala1820Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461712G>ACA1562804OTOFc.5517C>T (p.Ser1839=)
c.3216C>T (p.Ser1072=)
c.3276C>T (p.Ser1092=)
c.3447C>T (p.Ser1149=)
c.5502C>T (p.Ser1834=)
c.5562C>T (p.Ser1854=)
c.5457C>T (p.Ser1819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461712G>CCA425359203OTOFc.5517C>G (p.Ser1839=)
c.3216C>G (p.Ser1072=)
c.3276C>G (p.Ser1092=)
c.3447C>G (p.Ser1149=)
c.5502C>G (p.Ser1834=)
c.5562C>G (p.Ser1854=)
c.5457C>G (p.Ser1819=)
2g.26461712G=CA1239825392OTOFc.5517C= (p.Ser1839=)
c.3216C= (p.Ser1072=)
c.3276C= (p.Ser1092=)
c.3447C= (p.Ser1149=)
c.5502C= (p.Ser1834=)
c.5562C= (p.Ser1854=)
c.5457C= (p.Ser1819=)
2g.26461712G>TCA425359205OTOFc.5517C>A (p.Ser1839=)
c.3216C>A (p.Ser1072=)
c.3276C>A (p.Ser1092=)
c.3447C>A (p.Ser1149=)
c.5502C>A (p.Ser1834=)
c.5562C>A (p.Ser1854=)
c.5457C>A (p.Ser1819=)
2g.26461713G>ACA346131278OTOFc.5516C>T (p.Ser1839Phe)
c.3215C>T (p.Ser1072Phe)
c.3275C>T (p.Ser1092Phe)
c.3446C>T (p.Ser1149Phe)
c.5501C>T (p.Ser1834Phe)
c.5561C>T (p.Ser1854Phe)
c.5456C>T (p.Ser1819Phe)
2g.26461713G>CCA346131279OTOFc.5516C>G (p.Ser1839Cys)
c.3215C>G (p.Ser1072Cys)
c.3275C>G (p.Ser1092Cys)
c.3446C>G (p.Ser1149Cys)
c.5501C>G (p.Ser1834Cys)
c.5561C>G (p.Ser1854Cys)
c.5456C>G (p.Ser1819Cys)
2g.26461713G>TCA346131280OTOFc.5516C>A (p.Ser1839Tyr)
c.3215C>A (p.Ser1072Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3446C>A (p.Ser1149Tyr)
c.5501C>A (p.Ser1834Tyr)
c.5561C>A (p.Ser1854Tyr)
c.5456C>A (p.Ser1819Tyr)
2g.26461714A>CCA346131281OTOFc.5515T>G (p.Ser1839Ala)
c.3214T>G (p.Ser1072Ala)
c.3274T>G (p.Ser1092Ala)
c.3445T>G (p.Ser1149Ala)
c.5500T>G (p.Ser1834Ala)
c.5560T>G (p.Ser1854Ala)
c.5455T>G (p.Ser1819Ala)
2g.26461714A>GCA346131282OTOFc.5515T>C (p.Ser1839Pro)
c.3214T>C (p.Ser1072Pro)
c.3274T>C (p.Ser1092Pro)
c.3445T>C (p.Ser1149Pro)
c.5500T>C (p.Ser1834Pro)
c.5560T>C (p.Ser1854Pro)
c.5455T>C (p.Ser1819Pro)
2g.26461714A>TCA346131283OTOFc.5515T>A (p.Ser1839Thr)
c.3214T>A (p.Ser1072Thr)
c.3274T>A (p.Ser1092Thr)
c.3445T>A (p.Ser1149Thr)
c.5500T>A (p.Ser1834Thr)
c.5560T>A (p.Ser1854Thr)
c.5455T>A (p.Ser1819Thr)
2g.26461715G>ACA425359209OTOFc.5514C>T (p.Phe1838=)
c.3213C>T (p.Phe1071=)
c.3273C>T (p.Phe1091=)
c.3444C>T (p.Phe1148=)
c.5499C>T (p.Phe1833=)
c.5559C>T (p.Phe1853=)
c.5454C>T (p.Phe1818=)
 gnomAD v4
2g.26461715G>CCA346131285OTOFc.5514C>G (p.Phe1838Leu)
c.3213C>G (p.Phe1071Leu)
c.3273C>G (p.Phe1091Leu)
c.3444C>G (p.Phe1148Leu)
c.5499C>G (p.Phe1833Leu)
c.5559C>G (p.Phe1853Leu)
c.5454C>G (p.Phe1818Leu)
2g.26461715G=CA1239825393OTOFc.5514C= (p.Phe1838=)
c.3213C= (p.Phe1071=)
c.3273C= (p.Phe1091=)
c.3444C= (p.Phe1148=)
c.5499C= (p.Phe1833=)
c.5559C= (p.Phe1853=)
c.5454C= (p.Phe1818=)
2g.26461715G>TCA346131284OTOFc.5514C>A (p.Phe1838Leu)
c.3213C>A (p.Phe1071Leu)
c.3273C>A (p.Phe1091Leu)
c.3444C>A (p.Phe1148Leu)
c.5499C>A (p.Phe1833Leu)
c.5559C>A (p.Phe1853Leu)
c.5454C>A (p.Phe1818Leu)
 dbSNP gnomAD v2
2g.26461716A>CCA346131286OTOFc.5513T>G (p.Phe1838Cys)
c.3212T>G (p.Phe1071Cys)
c.3272T>G (p.Phe1091Cys)
c.3443T>G (p.Phe1148Cys)
c.5498T>G (p.Phe1833Cys)
c.5558T>G (p.Phe1853Cys)
c.5453T>G (p.Phe1818Cys)
2g.26461716A>GCA346131288OTOFc.5513T>C (p.Phe1838Ser)
c.3212T>C (p.Phe1071Ser)
c.3272T>C (p.Phe1091Ser)
c.3443T>C (p.Phe1148Ser)
c.5498T>C (p.Phe1833Ser)
c.5558T>C (p.Phe1853Ser)
c.5453T>C (p.Phe1818Ser)
2g.26461716A>TCA346131287OTOFc.5513T>A (p.Phe1838Tyr)
c.3212T>A (p.Phe1071Tyr)
c.3272T>A (p.Phe1091Tyr)
c.3443T>A (p.Phe1148Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5558T>A (p.Phe1853Tyr)
c.5453T>A (p.Phe1818Tyr)
2g.26461717A>CCA346131289OTOFc.5512T>G (p.Phe1838Val)
c.3211T>G (p.Phe1071Val)
c.3271T>G (p.Phe1091Val)
c.3442T>G (p.Phe1148Val)
c.5497T>G (p.Phe1833Val)
c.5557T>G (p.Phe1853Val)
c.5452T>G (p.Phe1818Val)
2g.26461717A>GCA346131290OTOFc.5512T>C (p.Phe1838Leu)
c.3211T>C (p.Phe1071Leu)
c.3271T>C (p.Phe1091Leu)
c.3442T>C (p.Phe1148Leu)
c.5497T>C (p.Phe1833Leu)
c.5557T>C (p.Phe1853Leu)
c.5452T>C (p.Phe1818Leu)
2g.26461717A>TCA346131291OTOFc.5512T>A (p.Phe1838Ile)
c.3211T>A (p.Phe1071Ile)
c.3271T>A (p.Phe1091Ile)
c.3442T>A (p.Phe1148Ile)
c.5497T>A (p.Phe1833Ile)
c.5557T>A (p.Phe1853Ile)
c.5452T>A (p.Phe1818Ile)
2g.26461718G>ACA425359219OTOFc.5511C>T (p.His1837=)
c.3210C>T (p.His1070=)
c.3270C>T (p.His1090=)
c.3441C>T (p.His1147=)
c.5496C>T (p.His1832=)
c.5556C>T (p.His1852=)
c.5451C>T (p.His1817=)
2g.26461718G>CCA346131292OTOFc.5511C>G (p.His1837Gln)
c.3210C>G (p.His1070Gln)
c.3270C>G (p.His1090Gln)
c.3441C>G (p.His1147Gln)
c.5496C>G (p.His1832Gln)
c.5556C>G (p.His1852Gln)
c.5451C>G (p.His1817Gln)
2g.26461718G>TCA346131293OTOFc.5511C>A (p.His1837Gln)
c.3210C>A (p.His1070Gln)
c.3270C>A (p.His1090Gln)
c.3441C>A (p.His1147Gln)
c.5496C>A (p.His1832Gln)
c.5556C>A (p.His1852Gln)
c.5451C>A (p.His1817Gln)
2g.26461719T>ACA346131294OTOFc.5510A>T (p.His1837Leu)
c.3209A>T (p.His1070Leu)
c.3269A>T (p.His1090Leu)
c.3440A>T (p.His1147Leu)
c.5495A>T (p.His1832Leu)
c.5555A>T (p.His1852Leu)
c.5450A>T (p.His1817Leu)
2g.26461719T>CCA346131295OTOFc.5510A>G (p.His1837Arg)
c.3209A>G (p.His1070Arg)
c.3269A>G (p.His1090Arg)
c.3440A>G (p.His1147Arg)
c.5495A>G (p.His1832Arg)
c.5555A>G (p.His1852Arg)
c.5450A>G (p.His1817Arg)
2g.26461719T>GCA346131296OTOFc.5510A>C (p.His1837Pro)
c.3209A>C (p.His1070Pro)
c.3269A>C (p.His1090Pro)
c.3440A>C (p.His1147Pro)
c.5495A>C (p.His1832Pro)
c.5555A>C (p.His1852Pro)
c.5450A>C (p.His1817Pro)
2g.26461720G>ACA346131297OTOFc.5509C>T (p.His1837Tyr)
c.3208C>T (p.His1070Tyr)
c.3268C>T (p.His1090Tyr)
c.3439C>T (p.His1147Tyr)
c.5494C>T (p.His1832Tyr)
c.5554C>T (p.His1852Tyr)
c.5449C>T (p.His1817Tyr)
2g.26461720G>CCA346131298OTOFc.5509C>G (p.His1837Asp)
c.3208C>G (p.His1070Asp)
c.3268C>G (p.His1090Asp)
c.3439C>G (p.His1147Asp)
c.5494C>G (p.His1832Asp)
c.5554C>G (p.His1852Asp)
c.5449C>G (p.His1817Asp)
2g.26461720G>TCA346131299OTOFc.5509C>A (p.His1837Asn)
c.3208C>A (p.His1070Asn)
c.3268C>A (p.His1090Asn)
c.3439C>A (p.His1147Asn)
c.5494C>A (p.His1832Asn)
c.5554C>A (p.His1852Asn)
c.5449C>A (p.His1817Asn)
2g.26461721G>ACA425359223OTOFc.5508C>T (p.Asp1836=)
c.3207C>T (p.Asp1069=)
c.3267C>T (p.Asp1089=)
c.3438C>T (p.Asp1146=)
c.5493C>T (p.Asp1831=)
c.5553C>T (p.Asp1851=)
c.5448C>T (p.Asp1816=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26461721G>CCA346131300OTOFc.5508C>G (p.Asp1836Glu)
c.3207C>G (p.Asp1069Glu)
c.3267C>G (p.Asp1089Glu)
c.3438C>G (p.Asp1146Glu)
c.5493C>G (p.Asp1831Glu)
c.5553C>G (p.Asp1851Glu)
c.5448C>G (p.Asp1816Glu)
2g.26461721G=CA1239825394OTOFc.5508C= (p.Asp1836=)
c.3207C= (p.Asp1069=)
c.3267C= (p.Asp1089=)
c.3438C= (p.Asp1146=)
c.5493C= (p.Asp1831=)
c.5553C= (p.Asp1851=)
c.5448C= (p.Asp1816=)
2g.26461721G>TCA346131301OTOFc.5508C>A (p.Asp1836Glu)
c.3207C>A (p.Asp1069Glu)
c.3267C>A (p.Asp1089Glu)
c.3438C>A (p.Asp1146Glu)
c.5493C>A (p.Asp1831Glu)
c.5553C>A (p.Asp1851Glu)
c.5448C>A (p.Asp1816Glu)
2g.26461722T>ACA346131302OTOFc.5507A>T (p.Asp1836Val)
c.3206A>T (p.Asp1069Val)
c.3266A>T (p.Asp1089Val)
c.3437A>T (p.Asp1146Val)
c.5492A>T (p.Asp1831Val)
c.5552A>T (p.Asp1851Val)
c.5447A>T (p.Asp1816Val)
2g.26461722T>CCA346131304OTOFc.5507A>G (p.Asp1836Gly)
c.3206A>G (p.Asp1069Gly)
c.3266A>G (p.Asp1089Gly)
c.3437A>G (p.Asp1146Gly)
c.5492A>G (p.Asp1831Gly)
c.5552A>G (p.Asp1851Gly)
c.5447A>G (p.Asp1816Gly)
2g.26461722T>GCA346131303OTOFc.5507A>C (p.Asp1836Ala)
c.3206A>C (p.Asp1069Ala)
c.3266A>C (p.Asp1089Ala)
c.3437A>C (p.Asp1146Ala)
c.5492A>C (p.Asp1831Ala)
c.5552A>C (p.Asp1851Ala)
c.5447A>C (p.Asp1816Ala)
2g.26461723C>ACA346131305OTOFc.5506G>T (p.Asp1836Tyr)
c.3205G>T (p.Asp1069Tyr)
c.3265G>T (p.Asp1089Tyr)
c.3436G>T (p.Asp1146Tyr)
c.5491G>T (p.Asp1831Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5446G>T (p.Asp1816Tyr)
2g.26461723C>GCA346131306OTOFc.5506G>C (p.Asp1836His)
c.3205G>C (p.Asp1069His)
c.3265G>C (p.Asp1089His)
c.3436G>C (p.Asp1146His)
c.5491G>C (p.Asp1831His)
c.5551G>C (p.Asp1851His)
c.5446G>C (p.Asp1816His)
2g.26461723C>TCA346131307OTOFc.5506G>A (p.Asp1836Asn)
c.3205G>A (p.Asp1069Asn)
c.3265G>A (p.Asp1089Asn)
c.3436G>A (p.Asp1146Asn)
c.5491G>A (p.Asp1831Asn)
c.5551G>A (p.Asp1851Asn)
c.5446G>A (p.Asp1816Asn)
2g.26461724C>ACA425359231OTOFc.5505G>T (p.Ala1835=)
c.3204G>T (p.Ala1068=)
c.3264G>T (p.Ala1088=)
c.3435G>T (p.Ala1145=)
c.5490G>T (p.Ala1830=)
c.5550G>T (p.Ala1850=)
c.5445G>T (p.Ala1815=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461724C=CA1239825395OTOFc.5505G= (p.Ala1835=)
c.3204G= (p.Ala1068=)
c.3264G= (p.Ala1088=)
c.3435G= (p.Ala1145=)
c.5490G= (p.Ala1830=)
c.5550G= (p.Ala1850=)
c.5445G= (p.Ala1815=)
2g.26461724C>GCA425359232OTOFc.5505G>C (p.Ala1835=)
c.3204G>C (p.Ala1068=)
c.3264G>C (p.Ala1088=)
c.3435G>C (p.Ala1145=)
c.5490G>C (p.Ala1830=)
c.5550G>C (p.Ala1850=)
c.5445G>C (p.Ala1815=)
2g.26461724C>TCA1562805OTOFc.5505G>A (p.Ala1835=)
c.3204G>A (p.Ala1068=)
c.3264G>A (p.Ala1088=)
c.3435G>A (p.Ala1145=)
c.5490G>A (p.Ala1830=)
c.5550G>A (p.Ala1850=)
c.5445G>A (p.Ala1815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461725G>ACA1562806OTOFc.5504C>T (p.Ala1835Val)
c.3203C>T (p.Ala1068Val)
c.3263C>T (p.Ala1088Val)
c.3434C>T (p.Ala1145Val)
c.5489C>T (p.Ala1830Val)
c.5549C>T (p.Ala1850Val)
c.5444C>T (p.Ala1815Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.26461725G>CCA346131308OTOFc.5504C>G (p.Ala1835Gly)
c.3203C>G (p.Ala1068Gly)
c.3263C>G (p.Ala1088Gly)
c.3434C>G (p.Ala1145Gly)
c.5489C>G (p.Ala1830Gly)
c.5549C>G (p.Ala1850Gly)
c.5444C>G (p.Ala1815Gly)
2g.26461725G=CA1239825396OTOFc.5504C= (p.Ala1835=)
c.3203C= (p.Ala1068=)
c.3263C= (p.Ala1088=)
c.3434C= (p.Ala1145=)
c.5489C= (p.Ala1830=)
c.5549C= (p.Ala1850=)
c.5444C= (p.Ala1815=)
2g.26461725G>TCA346131309OTOFc.5504C>A (p.Ala1835Glu)
c.3203C>A (p.Ala1068Glu)
c.3263C>A (p.Ala1088Glu)
c.3434C>A (p.Ala1145Glu)
c.5489C>A (p.Ala1830Glu)
c.5549C>A (p.Ala1850Glu)
c.5444C>A (p.Ala1815Glu)
2g.26461726delCA2658232582OTOFc.5503del (p.Ala1835ArgfsTer17)
c.3202del (p.Ala1068ArgfsTer17)
c.3262del (p.Ala1088ArgfsTer17)
c.3433del (p.Ala1145ArgfsTer17)
c.5488del (p.Ala1830ArgfsTer17)
c.5548del (p.Ala1850ArgfsTer17)
c.5443del (p.Ala1815ArgfsTer17)
 gnomAD v4
2g.26461726C>ACA346131310OTOFc.5503G>T (p.Ala1835Ser)
c.3202G>T (p.Ala1068Ser)
c.3262G>T (p.Ala1088Ser)
c.3433G>T (p.Ala1145Ser)
c.5488G>T (p.Ala1830Ser)
c.5548G>T (p.Ala1850Ser)
c.5443G>T (p.Ala1815Ser)
2g.26461726C>GCA346131311OTOFc.5503G>C (p.Ala1835Pro)
c.3202G>C (p.Ala1068Pro)
c.3262G>C (p.Ala1088Pro)
c.3433G>C (p.Ala1145Pro)
c.5488G>C (p.Ala1830Pro)
c.5548G>C (p.Ala1850Pro)
c.5443G>C (p.Ala1815Pro)
2g.26461726C>TCA346131312OTOFc.5503G>A (p.Ala1835Thr)
c.3202G>A (p.Ala1068Thr)
c.3262G>A (p.Ala1088Thr)
c.3433G>A (p.Ala1145Thr)
c.5488G>A (p.Ala1830Thr)
c.5548G>A (p.Ala1850Thr)
c.5443G>A (p.Ala1815Thr)
2g.26461727A=CA1239825397OTOFc.5502T= (p.Asp1834=)
c.3201T= (p.Asp1067=)
c.3261T= (p.Asp1087=)
c.3432T= (p.Asp1144=)
c.5487T= (p.Asp1829=)
c.5547T= (p.Asp1849=)
c.5442T= (p.Asp1814=)
2g.26461727A>CCA346131314OTOFc.5502T>G (p.Asp1834Glu)
c.3201T>G (p.Asp1067Glu)
c.3261T>G (p.Asp1087Glu)
c.3432T>G (p.Asp1144Glu)
c.5487T>G (p.Asp1829Glu)
c.5547T>G (p.Asp1849Glu)
c.5442T>G (p.Asp1814Glu)
2g.26461727A>GCA44409066OTOFc.5502T>C (p.Asp1834=)
c.3201T>C (p.Asp1067=)
c.3261T>C (p.Asp1087=)
c.3432T>C (p.Asp1144=)
c.5487T>C (p.Asp1829=)
c.5547T>C (p.Asp1849=)
c.5442T>C (p.Asp1814=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26461727A>TCA346131313OTOFc.5502T>A (p.Asp1834Glu)
c.3201T>A (p.Asp1067Glu)
c.3261T>A (p.Asp1087Glu)
c.3432T>A (p.Asp1144Glu)
c.5487T>A (p.Asp1829Glu)
c.5547T>A (p.Asp1849Glu)
c.5442T>A (p.Asp1814Glu)
2g.26461728T>ACA346131317OTOFc.5501A>T (p.Asp1834Val)
c.3200A>T (p.Asp1067Val)
c.3260A>T (p.Asp1087Val)
c.3431A>T (p.Asp1144Val)
c.5486A>T (p.Asp1829Val)
c.5546A>T (p.Asp1849Val)
c.5441A>T (p.Asp1814Val)
2g.26461728T>CCA346131315OTOFc.5501A>G (p.Asp1834Gly)
c.3200A>G (p.Asp1067Gly)
c.3260A>G (p.Asp1087Gly)
c.3431A>G (p.Asp1144Gly)
c.5486A>G (p.Asp1829Gly)
c.5546A>G (p.Asp1849Gly)
c.5441A>G (p.Asp1814Gly)
2g.26461728T>GCA346131316OTOFc.5501A>C (p.Asp1834Ala)
c.3200A>C (p.Asp1067Ala)
c.3260A>C (p.Asp1087Ala)
c.3431A>C (p.Asp1144Ala)
c.5486A>C (p.Asp1829Ala)
c.5546A>C (p.Asp1849Ala)
c.5441A>C (p.Asp1814Ala)
2g.26461729C>ACA346131318OTOFc.5500G>T (p.Asp1834Tyr)
c.3199G>T (p.Asp1067Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3430G>T (p.Asp1144Tyr)
c.5485G>T (p.Asp1829Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5440G>T (p.Asp1814Tyr)
2g.26461729C>GCA346131319OTOFc.5500G>C (p.Asp1834His)
c.3199G>C (p.Asp1067His)
c.3259G>C (p.Asp1087His)
c.3430G>C (p.Asp1144His)
c.5485G>C (p.Asp1829His)
c.5545G>C (p.Asp1849His)
c.5440G>C (p.Asp1814His)
2g.26461729C>TCA346131320OTOFc.5500G>A (p.Asp1834Asn)
c.3199G>A (p.Asp1067Asn)
c.3259G>A (p.Asp1087Asn)
c.3430G>A (p.Asp1144Asn)
c.5485G>A (p.Asp1829Asn)
c.5545G>A (p.Asp1849Asn)
c.5440G>A (p.Asp1814Asn)
 gnomAD v4
2g.26461731delCA2586968799OTOFc.5500del (p.Asp1834MetfsTer18)
c.3199del (p.Asp1067MetfsTer18)
c.3259del (p.Asp1087MetfsTer18)
c.3430del (p.Asp1144MetfsTer18)
c.5485del (p.Asp1829MetfsTer18)
c.5545del (p.Asp1849MetfsTer18)
c.5440del (p.Asp1814MetfsTer18)
2g.26461730C>ACA346131321OTOFc.5499G>T (p.Trp1833Cys)
c.3198G>T (p.Trp1066Cys)
c.3258G>T (p.Trp1086Cys)
c.3429G>T (p.Trp1143Cys)
c.5484G>T (p.Trp1828Cys)
c.5544G>T (p.Trp1848Cys)
c.5439G>T (p.Trp1813Cys)
 COSMIC COSMIC COSMIC
2g.26461730C>GCA346131322OTOFc.5499G>C (p.Trp1833Cys)
c.3198G>C (p.Trp1066Cys)
c.3258G>C (p.Trp1086Cys)
c.3429G>C (p.Trp1143Cys)
c.5484G>C (p.Trp1828Cys)
c.5544G>C (p.Trp1848Cys)
c.5439G>C (p.Trp1813Cys)
2g.26461730C>TCA346131323OTOFc.5499G>A (p.Trp1833Ter)
c.3198G>A (p.Trp1066Ter)
c.3258G>A (p.Trp1086Ter)
c.3429G>A (p.Trp1143Ter)
c.5484G>A (p.Trp1828Ter)
c.5544G>A (p.Trp1848Ter)
c.5439G>A (p.Trp1813Ter)
 gnomAD v4
2g.26461731C>ACA346131324OTOFc.5498G>T (p.Trp1833Leu)
c.3197G>T (p.Trp1066Leu)
c.3257G>T (p.Trp1086Leu)
c.3428G>T (p.Trp1143Leu)
c.5483G>T (p.Trp1828Leu)
c.5543G>T (p.Trp1848Leu)
c.5438G>T (p.Trp1813Leu)
 COSMIC COSMIC COSMIC
2g.26461731C>GCA346131325OTOFc.5498G>C (p.Trp1833Ser)
c.3197G>C (p.Trp1066Ser)
c.3257G>C (p.Trp1086Ser)
c.3428G>C (p.Trp1143Ser)
c.5483G>C (p.Trp1828Ser)
c.5543G>C (p.Trp1848Ser)
c.5438G>C (p.Trp1813Ser)
2g.26461731C>TCA346131326OTOFc.5498G>A (p.Trp1833Ter)
c.3197G>A (p.Trp1066Ter)
c.3257G>A (p.Trp1086Ter)
c.3428G>A (p.Trp1143Ter)
c.5483G>A (p.Trp1828Ter)
c.5543G>A (p.Trp1848Ter)
c.5438G>A (p.Trp1813Ter)
2g.26461732A>CCA346131327OTOFc.5497T>G (p.Trp1833Gly)
c.3196T>G (p.Trp1066Gly)
c.3256T>G (p.Trp1086Gly)
c.3427T>G (p.Trp1143Gly)
c.5482T>G (p.Trp1828Gly)
c.5542T>G (p.Trp1848Gly)
c.5437T>G (p.Trp1813Gly)
2g.26461732A>GCA346131328OTOFc.5497T>C (p.Trp1833Arg)
c.3196T>C (p.Trp1066Arg)
c.3256T>C (p.Trp1086Arg)
c.3427T>C (p.Trp1143Arg)
c.5482T>C (p.Trp1828Arg)
c.5542T>C (p.Trp1848Arg)
c.5437T>C (p.Trp1813Arg)
 gnomAD v4
2g.26461732A>TCA346131329OTOFc.5497T>A (p.Trp1833Arg)
c.3196T>A (p.Trp1066Arg)
c.3256T>A (p.Trp1086Arg)
c.3427T>A (p.Trp1143Arg)
c.5482T>A (p.Trp1828Arg)
c.5542T>A (p.Trp1848Arg)
c.5437T>A (p.Trp1813Arg)
2g.26461733G>ACA425359249OTOFc.5496C>T (p.Ile1832=)
c.3195C>T (p.Ile1065=)
c.3255C>T (p.Ile1085=)
c.3426C>T (p.Ile1142=)
c.5481C>T (p.Ile1827=)
c.5541C>T (p.Ile1847=)
c.5436C>T (p.Ile1812=)
 dbSNP
2g.26461733G>CCA346131330OTOFc.5496C>G (p.Ile1832Met)
c.3195C>G (p.Ile1065Met)
c.3255C>G (p.Ile1085Met)
c.3426C>G (p.Ile1142Met)
c.5481C>G (p.Ile1827Met)
c.5541C>G (p.Ile1847Met)
c.5436C>G (p.Ile1812Met)
2g.26461733G=CA1239825398OTOFc.5496C= (p.Ile1832=)
c.3195C= (p.Ile1065=)
c.3255C= (p.Ile1085=)
c.3426C= (p.Ile1142=)
c.5481C= (p.Ile1827=)
c.5541C= (p.Ile1847=)
c.5436C= (p.Ile1812=)
2g.26461733G>TCA425359253OTOFc.5496C>A (p.Ile1832=)
c.3195C>A (p.Ile1065=)
c.3255C>A (p.Ile1085=)
c.3426C>A (p.Ile1142=)
c.5481C>A (p.Ile1827=)
c.5541C>A (p.Ile1847=)
c.5436C>A (p.Ile1812=)
2g.26461734A>CCA346131331OTOFc.5495T>G (p.Ile1832Ser)
c.3194T>G (p.Ile1065Ser)
c.3254T>G (p.Ile1085Ser)
c.3425T>G (p.Ile1142Ser)
c.5480T>G (p.Ile1827Ser)
c.5540T>G (p.Ile1847Ser)
c.5435T>G (p.Ile1812Ser)
2g.26461734A>GCA346131332OTOFc.5495T>C (p.Ile1832Thr)
c.3194T>C (p.Ile1065Thr)
c.3254T>C (p.Ile1085Thr)
c.3425T>C (p.Ile1142Thr)
c.5480T>C (p.Ile1827Thr)
c.5540T>C (p.Ile1847Thr)
c.5435T>C (p.Ile1812Thr)
 gnomAD v4
2g.26461734A>TCA346131333OTOFc.5495T>A (p.Ile1832Asn)
c.3194T>A (p.Ile1065Asn)
c.3254T>A (p.Ile1085Asn)
c.3425T>A (p.Ile1142Asn)
c.5480T>A (p.Ile1827Asn)
c.5540T>A (p.Ile1847Asn)
c.5435T>A (p.Ile1812Asn)
2g.26461735T>ACA346131334OTOFc.5494A>T (p.Ile1832Phe)
c.3193A>T (p.Ile1065Phe)
c.3253A>T (p.Ile1085Phe)
c.3424A>T (p.Ile1142Phe)
c.5479A>T (p.Ile1827Phe)
c.5539A>T (p.Ile1847Phe)
c.5434A>T (p.Ile1812Phe)
2g.26461735T>CCA346131335OTOFc.5494A>G (p.Ile1832Val)
c.3193A>G (p.Ile1065Val)
c.3253A>G (p.Ile1085Val)
c.3424A>G (p.Ile1142Val)
c.5479A>G (p.Ile1827Val)
c.5539A>G (p.Ile1847Val)
c.5434A>G (p.Ile1812Val)
 gnomAD v4
2g.26461735T>GCA346131336OTOFc.5494A>C (p.Ile1832Leu)
c.3193A>C (p.Ile1065Leu)
c.3253A>C (p.Ile1085Leu)
c.3424A>C (p.Ile1142Leu)
c.5479A>C (p.Ile1827Leu)
c.5539A>C (p.Ile1847Leu)
c.5434A>C (p.Ile1812Leu)
2g.26461736C>ACA346131337OTOFc.5493G>T (p.Gln1831His)
c.3192G>T (p.Gln1064His)
c.3252G>T (p.Gln1084His)
c.3423G>T (p.Gln1141His)
c.5478G>T (p.Gln1826His)
c.5538G>T (p.Gln1846His)
c.5433G>T (p.Gln1811His)
2g.26461736C=CA1239825399OTOFc.5493G= (p.Gln1831=)
c.3192G= (p.Gln1064=)
c.3252G= (p.Gln1084=)
c.3423G= (p.Gln1141=)
c.5478G= (p.Gln1826=)
c.5538G= (p.Gln1846=)
c.5433G= (p.Gln1811=)
2g.26461736C>GCA346131338OTOFc.5493G>C (p.Gln1831His)
c.3192G>C (p.Gln1064His)
c.3252G>C (p.Gln1084His)
c.3423G>C (p.Gln1141His)
c.5478G>C (p.Gln1826His)
c.5538G>C (p.Gln1846His)
c.5433G>C (p.Gln1811His)
2g.26461736C>TCA425359255OTOFc.5493G>A (p.Gln1831=)
c.3192G>A (p.Gln1064=)
c.3252G>A (p.Gln1084=)
c.3423G>A (p.Gln1141=)
c.5478G>A (p.Gln1826=)
c.5538G>A (p.Gln1846=)
c.5433G>A (p.Gln1811=)
 dbSNP gnomAD v2
2g.26461737T>ACA346131339OTOFc.5492A>T (p.Gln1831Leu)
c.3191A>T (p.Gln1064Leu)
c.3251A>T (p.Gln1084Leu)
c.3422A>T (p.Gln1141Leu)
c.5477A>T (p.Gln1826Leu)
c.5537A>T (p.Gln1846Leu)
c.5432A>T (p.Gln1811Leu)
2g.26461737T>CCA346131340OTOFc.5492A>G (p.Gln1831Arg)
c.3191A>G (p.Gln1064Arg)
c.3251A>G (p.Gln1084Arg)
c.3422A>G (p.Gln1141Arg)
c.5477A>G (p.Gln1826Arg)
c.5537A>G (p.Gln1846Arg)
c.5432A>G (p.Gln1811Arg)
2g.26461737T>GCA346131341OTOFc.5492A>C (p.Gln1831Pro)
c.3191A>C (p.Gln1064Pro)
c.3251A>C (p.Gln1084Pro)
c.3422A>C (p.Gln1141Pro)
c.5477A>C (p.Gln1826Pro)
c.5537A>C (p.Gln1846Pro)
c.5432A>C (p.Gln1811Pro)
2g.26461738G>ACA346131342OTOFc.5491C>T (p.Gln1831Ter)
c.3190C>T (p.Gln1064Ter)
c.3250C>T (p.Gln1084Ter)
c.3421C>T (p.Gln1141Ter)
c.5476C>T (p.Gln1826Ter)
c.5536C>T (p.Gln1846Ter)
c.5431C>T (p.Gln1811Ter)
2g.26461738G>CCA346131343OTOFc.5491C>G (p.Gln1831Glu)
c.3190C>G (p.Gln1064Glu)
c.3250C>G (p.Gln1084Glu)
c.3421C>G (p.Gln1141Glu)
c.5476C>G (p.Gln1826Glu)
c.5536C>G (p.Gln1846Glu)
c.5431C>G (p.Gln1811Glu)
2g.26461738G>TCA346131344OTOFc.5491C>A (p.Gln1831Lys)
c.3190C>A (p.Gln1064Lys)
c.3250C>A (p.Gln1084Lys)
c.3421C>A (p.Gln1141Lys)
c.5476C>A (p.Gln1826Lys)
c.5536C>A (p.Gln1846Lys)
c.5431C>A (p.Gln1811Lys)
2g.26461739C>ACA425359260OTOFc.5490G>T (p.Leu1830=)
c.3189G>T (p.Leu1063=)
c.3249G>T (p.Leu1083=)
c.3420G>T (p.Leu1140=)
c.5475G>T (p.Leu1825=)
c.5535G>T (p.Leu1845=)
c.5430G>T (p.Leu1810=)
2g.26461739C>GCA425359261OTOFc.5490G>C (p.Leu1830=)
c.3189G>C (p.Leu1063=)
c.3249G>C (p.Leu1083=)
c.3420G>C (p.Leu1140=)
c.5475G>C (p.Leu1825=)
c.5535G>C (p.Leu1845=)
c.5430G>C (p.Leu1810=)
2g.26461739C>TCA425359262OTOFc.5490G>A (p.Leu1830=)
c.3189G>A (p.Leu1063=)
c.3249G>A (p.Leu1083=)
c.3420G>A (p.Leu1140=)
c.5475G>A (p.Leu1825=)
c.5535G>A (p.Leu1845=)
c.5430G>A (p.Leu1810=)
2g.26461740A>CCA346131346OTOFc.5489T>G (p.Leu1830Arg)
c.3188T>G (p.Leu1063Arg)
c.3248T>G (p.Leu1083Arg)
c.3419T>G (p.Leu1140Arg)
c.5474T>G (p.Leu1825Arg)
c.5534T>G (p.Leu1845Arg)
c.5429T>G (p.Leu1810Arg)
2g.26461740A>GCA346131347OTOFc.5489T>C (p.Leu1830Pro)
c.3188T>C (p.Leu1063Pro)
c.3248T>C (p.Leu1083Pro)
c.3419T>C (p.Leu1140Pro)
c.5474T>C (p.Leu1825Pro)
c.5534T>C (p.Leu1845Pro)
c.5429T>C (p.Leu1810Pro)
2g.26461740A>TCA346131345OTOFc.5489T>A (p.Leu1830Gln)
c.3188T>A (p.Leu1063Gln)
c.3248T>A (p.Leu1083Gln)
c.3419T>A (p.Leu1140Gln)
c.5474T>A (p.Leu1825Gln)
c.5534T>A (p.Leu1845Gln)
c.5429T>A (p.Leu1810Gln)
2g.26461741G>ACA425359266OTOFc.5488C>T (p.Leu1830=)
c.3187C>T (p.Leu1063=)
c.3247C>T (p.Leu1083=)
c.3418C>T (p.Leu1140=)
c.5473C>T (p.Leu1825=)
c.5533C>T (p.Leu1845=)
c.5428C>T (p.Leu1810=)
2g.26461741G>CCA346131348OTOFc.5488C>G (p.Leu1830Val)
c.3187C>G (p.Leu1063Val)
c.3247C>G (p.Leu1083Val)
c.3418C>G (p.Leu1140Val)
c.5473C>G (p.Leu1825Val)
c.5533C>G (p.Leu1845Val)
c.5428C>G (p.Leu1810Val)
2g.26461741G>TCA346131349OTOFc.5488C>A (p.Leu1830Met)
c.3187C>A (p.Leu1063Met)
c.3247C>A (p.Leu1083Met)
c.3418C>A (p.Leu1140Met)
c.5473C>A (p.Leu1825Met)
c.5533C>A (p.Leu1845Met)
c.5428C>A (p.Leu1810Met)
 COSMIC COSMIC
2g.26461742G>ACA1562807OTOFc.5487C>T (p.Thr1829=)
c.3186C>T (p.Thr1062=)
c.3246C>T (p.Thr1082=)
c.3417C>T (p.Thr1139=)
c.5472C>T (p.Thr1824=)
c.5532C>T (p.Thr1844=)
c.5427C>T (p.Thr1809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461742G>CCA425359267OTOFc.5487C>G (p.Thr1829=)
c.3186C>G (p.Thr1062=)
c.3246C>G (p.Thr1082=)
c.3417C>G (p.Thr1139=)
c.5472C>G (p.Thr1824=)
c.5532C>G (p.Thr1844=)
c.5427C>G (p.Thr1809=)
2g.26461742G=CA1239825400OTOFc.5487C= (p.Thr1829=)
c.3186C= (p.Thr1062=)
c.3246C= (p.Thr1082=)
c.3417C= (p.Thr1139=)
c.5472C= (p.Thr1824=)
c.5532C= (p.Thr1844=)
c.5427C= (p.Thr1809=)
2g.26461742G>TCA425359268OTOFc.5487C>A (p.Thr1829=)
c.3186C>A (p.Thr1062=)
c.3246C>A (p.Thr1082=)
c.3417C>A (p.Thr1139=)
c.5472C>A (p.Thr1824=)
c.5532C>A (p.Thr1844=)
c.5427C>A (p.Thr1809=)
2g.26461743G>ACA346131350OTOFc.5486C>T (p.Thr1829Ile)
c.3185C>T (p.Thr1062Ile)
c.3245C>T (p.Thr1082Ile)
c.3416C>T (p.Thr1139Ile)
c.5471C>T (p.Thr1824Ile)
c.5531C>T (p.Thr1844Ile)
c.5426C>T (p.Thr1809Ile)
 dbSNP
2g.26461743G>CCA346131351OTOFc.5486C>G (p.Thr1829Ser)
c.3185C>G (p.Thr1062Ser)
c.3245C>G (p.Thr1082Ser)
c.3416C>G (p.Thr1139Ser)
c.5471C>G (p.Thr1824Ser)
c.5531C>G (p.Thr1844Ser)
c.5426C>G (p.Thr1809Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461743G=CA1239825401OTOFc.5486C= (p.Thr1829=)
c.3185C= (p.Thr1062=)
c.3245C= (p.Thr1082=)
c.3416C= (p.Thr1139=)
c.5471C= (p.Thr1824=)
c.5531C= (p.Thr1844=)
c.5426C= (p.Thr1809=)
2g.26461743G>TCA346131352OTOFc.5486C>A (p.Thr1829Asn)
c.3185C>A (p.Thr1062Asn)
c.3245C>A (p.Thr1082Asn)
c.3416C>A (p.Thr1139Asn)
c.5471C>A (p.Thr1824Asn)
c.5531C>A (p.Thr1844Asn)
c.5426C>A (p.Thr1809Asn)
 gnomAD v4
2g.26461744T>ACA346131353OTOFc.5485A>T (p.Thr1829Ser)
c.3184A>T (p.Thr1062Ser)
c.3244A>T (p.Thr1082Ser)
c.3415A>T (p.Thr1139Ser)
c.5470A>T (p.Thr1824Ser)
c.5530A>T (p.Thr1844Ser)
c.5425A>T (p.Thr1809Ser)
2g.26461744T>CCA346131354OTOFc.5485A>G (p.Thr1829Ala)
c.3184A>G (p.Thr1062Ala)
c.3244A>G (p.Thr1082Ala)
c.3415A>G (p.Thr1139Ala)
c.5470A>G (p.Thr1824Ala)
c.5530A>G (p.Thr1844Ala)
c.5425A>G (p.Thr1809Ala)
 dbSNP
2g.26461744T>GCA346131355OTOFc.5485A>C (p.Thr1829Pro)
c.3184A>C (p.Thr1062Pro)
c.3244A>C (p.Thr1082Pro)
c.3415A>C (p.Thr1139Pro)
c.5470A>C (p.Thr1824Pro)
c.5530A>C (p.Thr1844Pro)
c.5425A>C (p.Thr1809Pro)
2g.26461744T=CA1239825402OTOFc.5485A= (p.Thr1829=)
c.3184A= (p.Thr1062=)
c.3244A= (p.Thr1082=)
c.3415A= (p.Thr1139=)
c.5470A= (p.Thr1824=)
c.5530A= (p.Thr1844=)
c.5425A= (p.Thr1809=)
2g.26461745G>ACA1562808OTOFc.5484C>T (p.Leu1828=)
c.3183C>T (p.Leu1061=)
c.3243C>T (p.Leu1081=)
c.3414C>T (p.Leu1138=)
c.5469C>T (p.Leu1823=)
c.5529C>T (p.Leu1843=)
c.5424C>T (p.Leu1808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461745G>CCA425359280OTOFc.5484C>G (p.Leu1828=)
c.3183C>G (p.Leu1061=)
c.3243C>G (p.Leu1081=)
c.3414C>G (p.Leu1138=)
c.5469C>G (p.Leu1823=)
c.5529C>G (p.Leu1843=)
c.5424C>G (p.Leu1808=)
 COSMIC COSMIC COSMIC
2g.26461745G=CA1239825403OTOFc.5484C= (p.Leu1828=)
c.3183C= (p.Leu1061=)
c.3243C= (p.Leu1081=)
c.3414C= (p.Leu1138=)
c.5469C= (p.Leu1823=)
c.5529C= (p.Leu1843=)
c.5424C= (p.Leu1808=)
2g.26461745G>TCA425359282OTOFc.5484C>A (p.Leu1828=)
c.3183C>A (p.Leu1061=)
c.3243C>A (p.Leu1081=)
c.3414C>A (p.Leu1138=)
c.5469C>A (p.Leu1823=)
c.5529C>A (p.Leu1843=)
c.5424C>A (p.Leu1808=)
2g.26461746A>CCA346131356OTOFc.5483T>G (p.Leu1828Arg)
c.3182T>G (p.Leu1061Arg)
c.3242T>G (p.Leu1081Arg)
c.3413T>G (p.Leu1138Arg)
c.5468T>G (p.Leu1823Arg)
c.5528T>G (p.Leu1843Arg)
c.5423T>G (p.Leu1808Arg)
2g.26461746A>GCA346131357OTOFc.5483T>C (p.Leu1828Pro)
c.3182T>C (p.Leu1061Pro)
c.3242T>C (p.Leu1081Pro)
c.3413T>C (p.Leu1138Pro)
c.5468T>C (p.Leu1823Pro)
c.5528T>C (p.Leu1843Pro)
c.5423T>C (p.Leu1808Pro)
2g.26461746A>TCA346131358OTOFc.5483T>A (p.Leu1828His)
c.3182T>A (p.Leu1061His)
c.3242T>A (p.Leu1081His)
c.3413T>A (p.Leu1138His)
c.5468T>A (p.Leu1823His)
c.5528T>A (p.Leu1843His)
c.5423T>A (p.Leu1808His)
2g.26461747G>ACA346131359OTOFc.5482C>T (p.Leu1828Phe)
c.3181C>T (p.Leu1061Phe)
c.3241C>T (p.Leu1081Phe)
c.3412C>T (p.Leu1138Phe)
c.5467C>T (p.Leu1823Phe)
c.5527C>T (p.Leu1843Phe)
c.5422C>T (p.Leu1808Phe)
2g.26461747G>CCA346131360OTOFc.5482C>G (p.Leu1828Val)
c.3181C>G (p.Leu1061Val)
c.3241C>G (p.Leu1081Val)
c.3412C>G (p.Leu1138Val)
c.5467C>G (p.Leu1823Val)
c.5527C>G (p.Leu1843Val)
c.5422C>G (p.Leu1808Val)
2g.26461747G>TCA346131361OTOFc.5482C>A (p.Leu1828Ile)
c.3181C>A (p.Leu1061Ile)
c.3241C>A (p.Leu1081Ile)
c.3412C>A (p.Leu1138Ile)
c.5467C>A (p.Leu1823Ile)
c.5527C>A (p.Leu1843Ile)
c.5422C>A (p.Leu1808Ile)
2g.26461748C>ACA425359286OTOFc.5481G>T (p.Arg1827=)
c.3180G>T (p.Arg1060=)
c.3240G>T (p.Arg1080=)
c.3411G>T (p.Arg1137=)
c.5466G>T (p.Arg1822=)
c.5526G>T (p.Arg1842=)
c.5421G>T (p.Arg1807=)
2g.26461748C>GCA425359287OTOFc.5481G>C (p.Arg1827=)
c.3180G>C (p.Arg1060=)
c.3240G>C (p.Arg1080=)
c.3411G>C (p.Arg1137=)
c.5466G>C (p.Arg1822=)
c.5526G>C (p.Arg1842=)
c.5421G>C (p.Arg1807=)
2g.26461748C>TCA425359288OTOFc.5481G>A (p.Arg1827=)
c.3180G>A (p.Arg1060=)
c.3240G>A (p.Arg1080=)
c.3411G>A (p.Arg1137=)
c.5466G>A (p.Arg1822=)
c.5526G>A (p.Arg1842=)
c.5421G>A (p.Arg1807=)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461749C>ACA346131362OTOFc.5480G>T (p.Arg1827Leu)
c.3179G>T (p.Arg1060Leu)
c.3239G>T (p.Arg1080Leu)
c.3410G>T (p.Arg1137Leu)
c.5465G>T (p.Arg1822Leu)
c.5525G>T (p.Arg1842Leu)
c.5420G>T (p.Arg1807Leu)
2g.26461749C=CA1239825404OTOFc.5480G= (p.Arg1827=)
c.3179G= (p.Arg1060=)
c.3239G= (p.Arg1080=)
c.3410G= (p.Arg1137=)
c.5465G= (p.Arg1822=)
c.5525G= (p.Arg1842=)
c.5420G= (p.Arg1807=)
2g.26461749C>GCA346131363OTOFc.5480G>C (p.Arg1827Pro)
c.3179G>C (p.Arg1060Pro)
c.3239G>C (p.Arg1080Pro)
c.3410G>C (p.Arg1137Pro)
c.5465G>C (p.Arg1822Pro)
c.5525G>C (p.Arg1842Pro)
c.5420G>C (p.Arg1807Pro)
2g.26461749C>TCA1562809OTOFc.5480G>A (p.Arg1827Gln)
c.3179G>A (p.Arg1060Gln)
c.3239G>A (p.Arg1080Gln)
c.3410G>A (p.Arg1137Gln)
c.5465G>A (p.Arg1822Gln)
c.5525G>A (p.Arg1842Gln)
c.5420G>A (p.Arg1807Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461750G>ACA1562811OTOFc.5479C>T (p.Arg1827Trp)
c.3178C>T (p.Arg1060Trp)
c.3238C>T (p.Arg1080Trp)
c.3409C>T (p.Arg1137Trp)
c.5464C>T (p.Arg1822Trp)
c.5524C>T (p.Arg1842Trp)
c.5419C>T (p.Arg1807Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461750G>CCA346131364OTOFc.5479C>G (p.Arg1827Gly)
c.3178C>G (p.Arg1060Gly)
c.3238C>G (p.Arg1080Gly)
c.3409C>G (p.Arg1137Gly)
c.5464C>G (p.Arg1822Gly)
c.5524C>G (p.Arg1842Gly)
c.5419C>G (p.Arg1807Gly)
2g.26461750G=CA1239825405OTOFc.5479C= (p.Arg1827=)
c.3178C= (p.Arg1060=)
c.3238C= (p.Arg1080=)
c.3409C= (p.Arg1137=)
c.5464C= (p.Arg1822=)
c.5524C= (p.Arg1842=)
c.5419C= (p.Arg1807=)
2g.26461750G>TCA1562810OTOFc.5479C>A (p.Arg1827=)
c.3178C>A (p.Arg1060=)
c.3238C>A (p.Arg1080=)
c.3409C>A (p.Arg1137=)
c.5464C>A (p.Arg1822=)
c.5524C>A (p.Arg1842=)
c.5419C>A (p.Arg1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461751C>ACA425359294OTOFc.5478G>T (p.Ala1826=)
c.3177G>T (p.Ala1059=)
c.3237G>T (p.Ala1079=)
c.3408G>T (p.Ala1136=)
c.5463G>T (p.Ala1821=)
c.5523G>T (p.Ala1841=)
c.5418G>T (p.Ala1806=)
2g.26461751C=CA1239825407OTOFc.5478G= (p.Ala1826=)
c.3177G= (p.Ala1059=)
c.3237G= (p.Ala1079=)
c.3408G= (p.Ala1136=)
c.5463G= (p.Ala1821=)
c.5523G= (p.Ala1841=)
c.5418G= (p.Ala1806=)
2g.26461751C>GCA425359293OTOFc.5478G>C (p.Ala1826=)
c.3177G>C (p.Ala1059=)
c.3237G>C (p.Ala1079=)
c.3408G>C (p.Ala1136=)
c.5463G>C (p.Ala1821=)
c.5523G>C (p.Ala1841=)
c.5418G>C (p.Ala1806=)
2g.26461751C>TCA425359292OTOFc.5478G>A (p.Ala1826=)
c.3177G>A (p.Ala1059=)
c.3237G>A (p.Ala1079=)
c.3408G>A (p.Ala1136=)
c.5463G>A (p.Ala1821=)
c.5523G>A (p.Ala1841=)
c.5418G>A (p.Ala1806=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461751_26461752delinsCGCA1239825406OTOFc.5477_5478delinsCG (p.Ala1826=)
c.3176_3177delinsCG (p.Ala1059=)
c.3236_3237delinsCG (p.Ala1079=)
c.3407_3408delinsCG (p.Ala1136=)
c.5462_5463delinsCG (p.Ala1821=)
c.5522_5523delinsCG (p.Ala1841=)
c.5417_5418delinsCG (p.Ala1806=)
2g.26461752delCA1239825408OTOFc.5477del (p.Ala1826GlyfsTer26)
c.3176del (p.Ala1059GlyfsTer26)
c.3236del (p.Ala1079GlyfsTer26)
c.3407del (p.Ala1136GlyfsTer26)
c.5462del (p.Ala1821GlyfsTer26)
c.5522del (p.Ala1841GlyfsTer26)
c.5417del (p.Ala1806GlyfsTer26)
 dbSNP
2g.26461752G>ACA1562812OTOFc.5477C>T (p.Ala1826Val)
c.3176C>T (p.Ala1059Val)
c.3236C>T (p.Ala1079Val)
c.3407C>T (p.Ala1136Val)
c.5462C>T (p.Ala1821Val)
c.5522C>T (p.Ala1841Val)
c.5417C>T (p.Ala1806Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461752G>CCA346131365OTOFc.5477C>G (p.Ala1826Gly)
c.3176C>G (p.Ala1059Gly)
c.3236C>G (p.Ala1079Gly)
c.3407C>G (p.Ala1136Gly)
c.5462C>G (p.Ala1821Gly)
c.5522C>G (p.Ala1841Gly)
c.5417C>G (p.Ala1806Gly)
2g.26461752G=CA1239825409OTOFc.5477C= (p.Ala1826=)
c.3176C= (p.Ala1059=)
c.3236C= (p.Ala1079=)
c.3407C= (p.Ala1136=)
c.5462C= (p.Ala1821=)
c.5522C= (p.Ala1841=)
c.5417C= (p.Ala1806=)
2g.26461752G>TCA346131366OTOFc.5477C>A (p.Ala1826Glu)
c.3176C>A (p.Ala1059Glu)
c.3236C>A (p.Ala1079Glu)
c.3407C>A (p.Ala1136Glu)
c.5462C>A (p.Ala1821Glu)
c.5522C>A (p.Ala1841Glu)
c.5417C>A (p.Ala1806Glu)
2g.26461753C>ACA346131367OTOFc.5476G>T (p.Ala1826Ser)
c.3175G>T (p.Ala1059Ser)
c.3235G>T (p.Ala1079Ser)
c.3406G>T (p.Ala1136Ser)
c.5461G>T (p.Ala1821Ser)
c.5521G>T (p.Ala1841Ser)
c.5416G>T (p.Ala1806Ser)
 dbSNP gnomAD v4
2g.26461753C=CA1239825410OTOFc.5476G= (p.Ala1826=)
c.3175G= (p.Ala1059=)
c.3235G= (p.Ala1079=)
c.3406G= (p.Ala1136=)
c.5461G= (p.Ala1821=)
c.5521G= (p.Ala1841=)
c.5416G= (p.Ala1806=)
2g.26461753C>GCA346131368OTOFc.5476G>C (p.Ala1826Pro)
c.3175G>C (p.Ala1059Pro)
c.3235G>C (p.Ala1079Pro)
c.3406G>C (p.Ala1136Pro)
c.5461G>C (p.Ala1821Pro)
c.5521G>C (p.Ala1841Pro)
c.5416G>C (p.Ala1806Pro)
2g.26461753C>TCA1562813OTOFc.5476G>A (p.Ala1826Thr)
c.3175G>A (p.Ala1059Thr)
c.3235G>A (p.Ala1079Thr)
c.3406G>A (p.Ala1136Thr)
c.5461G>A (p.Ala1821Thr)
c.5521G>A (p.Ala1841Thr)
c.5416G>A (p.Ala1806Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461754G>ACA425359300OTOFc.5475C>T (p.Pro1825=)
c.3174C>T (p.Pro1058=)
c.3234C>T (p.Pro1078=)
c.3405C>T (p.Pro1135=)
c.5460C>T (p.Pro1820=)
c.5520C>T (p.Pro1840=)
c.5415C>T (p.Pro1805=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461754G>CCA425359298OTOFc.5475C>G (p.Pro1825=)
c.3174C>G (p.Pro1058=)
c.3234C>G (p.Pro1078=)
c.3405C>G (p.Pro1135=)
c.5460C>G (p.Pro1820=)
c.5520C>G (p.Pro1840=)
c.5415C>G (p.Pro1805=)
 gnomAD v4
2g.26461754G=CA1239825411OTOFc.5475C= (p.Pro1825=)
c.3174C= (p.Pro1058=)
c.3234C= (p.Pro1078=)
c.3405C= (p.Pro1135=)
c.5460C= (p.Pro1820=)
c.5520C= (p.Pro1840=)
c.5415C= (p.Pro1805=)
2g.26461754G>TCA1562814OTOFc.5475C>A (p.Pro1825=)
c.3174C>A (p.Pro1058=)
c.3234C>A (p.Pro1078=)
c.3405C>A (p.Pro1135=)
c.5460C>A (p.Pro1820=)
c.5520C>A (p.Pro1840=)
c.5415C>A (p.Pro1805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461755G>ACA346131371OTOFc.5474C>T (p.Pro1825Leu)
c.3173C>T (p.Pro1058Leu)
c.3233C>T (p.Pro1078Leu)
c.3404C>T (p.Pro1135Leu)
c.5459C>T (p.Pro1820Leu)
c.5519C>T (p.Pro1840Leu)
c.5414C>T (p.Pro1805Leu)
2g.26461755G>CCA346131370OTOFc.5474C>G (p.Pro1825Arg)
c.3173C>G (p.Pro1058Arg)
c.3233C>G (p.Pro1078Arg)
c.3404C>G (p.Pro1135Arg)
c.5459C>G (p.Pro1820Arg)
c.5519C>G (p.Pro1840Arg)
c.5414C>G (p.Pro1805Arg)
2g.26461755G>TCA346131369OTOFc.5474C>A (p.Pro1825His)
c.3173C>A (p.Pro1058His)
c.3233C>A (p.Pro1078His)
c.3404C>A (p.Pro1135His)
c.5459C>A (p.Pro1820His)
c.5519C>A (p.Pro1840His)
c.5414C>A (p.Pro1805His)
2g.26461756G>ACA346131372OTOFc.5473C>T (p.Pro1825Ser)
c.3172C>T (p.Pro1058Ser)
c.3232C>T (p.Pro1078Ser)
c.3403C>T (p.Pro1135Ser)
c.5458C>T (p.Pro1820Ser)
c.5518C>T (p.Pro1840Ser)
c.5413C>T (p.Pro1805Ser)
 gnomAD v4
2g.26461756G>CCA340527OTOFc.5473C>G (p.Pro1825Ala)
c.3172C>G (p.Pro1058Ala)
c.3232C>G (p.Pro1078Ala)
c.3403C>G (p.Pro1135Ala)
c.5458C>G (p.Pro1820Ala)
c.5518C>G (p.Pro1840Ala)
c.5413C>G (p.Pro1805Ala)
 ClinVar dbSNP
2g.26461756G=CA1239825412OTOFc.5473C= (p.Pro1825=)
c.3172C= (p.Pro1058=)
c.3232C= (p.Pro1078=)
c.3403C= (p.Pro1135=)
c.5458C= (p.Pro1820=)
c.5518C= (p.Pro1840=)
c.5413C= (p.Pro1805=)
2g.26461756G>TCA346131373OTOFc.5473C>A (p.Pro1825Thr)
c.3172C>A (p.Pro1058Thr)
c.3232C>A (p.Pro1078Thr)
c.3403C>A (p.Pro1135Thr)
c.5458C>A (p.Pro1820Thr)
c.5518C>A (p.Pro1840Thr)
c.5413C>A (p.Pro1805Thr)
2g.26461757G>ACA1562815OTOFc.5472C>T (p.Ile1824=)
c.3171C>T (p.Ile1057=)
c.3231C>T (p.Ile1077=)
c.3402C>T (p.Ile1134=)
c.5457C>T (p.Ile1819=)
c.5517C>T (p.Ile1839=)
c.5412C>T (p.Ile1804=)
 dbSNP ExAC gnomAD v4
2g.26461757G>CCA346131374OTOFc.5472C>G (p.Ile1824Met)
c.3171C>G (p.Ile1057Met)
c.3231C>G (p.Ile1077Met)
c.3402C>G (p.Ile1134Met)
c.5457C>G (p.Ile1819Met)
c.5517C>G (p.Ile1839Met)
c.5412C>G (p.Ile1804Met)
2g.26461757G=CA1239825413OTOFc.5472C= (p.Ile1824=)
c.3171C= (p.Ile1057=)
c.3231C= (p.Ile1077=)
c.3402C= (p.Ile1134=)
c.5457C= (p.Ile1819=)
c.5517C= (p.Ile1839=)
c.5412C= (p.Ile1804=)
2g.26461757G>TCA425359307OTOFc.5472C>A (p.Ile1824=)
c.3171C>A (p.Ile1057=)
c.3231C>A (p.Ile1077=)
c.3402C>A (p.Ile1134=)
c.5457C>A (p.Ile1819=)
c.5517C>A (p.Ile1839=)
c.5412C>A (p.Ile1804=)
 gnomAD v4
2g.26461758A=CA1239825414OTOFc.5471T= (p.Ile1824=)
c.3170T= (p.Ile1057=)
c.3230T= (p.Ile1077=)
c.3401T= (p.Ile1134=)
c.5456T= (p.Ile1819=)
c.5516T= (p.Ile1839=)
c.5411T= (p.Ile1804=)
2g.26461758A>CCA346131375OTOFc.5471T>G (p.Ile1824Ser)
c.3170T>G (p.Ile1057Ser)
c.3230T>G (p.Ile1077Ser)
c.3401T>G (p.Ile1134Ser)
c.5456T>G (p.Ile1819Ser)
c.5516T>G (p.Ile1839Ser)
c.5411T>G (p.Ile1804Ser)
2g.26461758A>GCA346131376OTOFc.5471T>C (p.Ile1824Thr)
c.3170T>C (p.Ile1057Thr)
c.3230T>C (p.Ile1077Thr)
c.3401T>C (p.Ile1134Thr)
c.5456T>C (p.Ile1819Thr)
c.5516T>C (p.Ile1839Thr)
c.5411T>C (p.Ile1804Thr)
2g.26461758A>TCA1562816OTOFc.5471T>A (p.Ile1824Asn)
c.3170T>A (p.Ile1057Asn)
c.3230T>A (p.Ile1077Asn)
c.3401T>A (p.Ile1134Asn)
c.5456T>A (p.Ile1819Asn)
c.5516T>A (p.Ile1839Asn)
c.5411T>A (p.Ile1804Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461759T>ACA346131377OTOFc.5470A>T (p.Ile1824Phe)
c.3169A>T (p.Ile1057Phe)
c.3229A>T (p.Ile1077Phe)
c.3400A>T (p.Ile1134Phe)
c.5455A>T (p.Ile1819Phe)
c.5515A>T (p.Ile1839Phe)
c.5410A>T (p.Ile1804Phe)
2g.26461759T>CCA346131378OTOFc.5470A>G (p.Ile1824Val)
c.3169A>G (p.Ile1057Val)
c.3229A>G (p.Ile1077Val)
c.3400A>G (p.Ile1134Val)
c.5455A>G (p.Ile1819Val)
c.5515A>G (p.Ile1839Val)
c.5410A>G (p.Ile1804Val)
2g.26461759T>GCA346131379OTOFc.5470A>C (p.Ile1824Leu)
c.3169A>C (p.Ile1057Leu)
c.3229A>C (p.Ile1077Leu)
c.3400A>C (p.Ile1134Leu)
c.5455A>C (p.Ile1819Leu)
c.5515A>C (p.Ile1839Leu)
c.5410A>C (p.Ile1804Leu)
 gnomAD v4
2g.26461760C>ACA346131380OTOFc.5469G>T (p.Lys1823Asn)
c.3168G>T (p.Lys1056Asn)
c.3228G>T (p.Lys1076Asn)
c.3399G>T (p.Lys1133Asn)
c.5454G>T (p.Lys1818Asn)
c.5514G>T (p.Lys1838Asn)
c.5409G>T (p.Lys1803Asn)
2g.26461760C>GCA346131381OTOFc.5469G>C (p.Lys1823Asn)
c.3168G>C (p.Lys1056Asn)
c.3228G>C (p.Lys1076Asn)
c.3399G>C (p.Lys1133Asn)
c.5454G>C (p.Lys1818Asn)
c.5514G>C (p.Lys1838Asn)
c.5409G>C (p.Lys1803Asn)
 gnomAD v4
2g.26461760C>TCA425359314OTOFc.5469G>A (p.Lys1823=)
c.3168G>A (p.Lys1056=)
c.3228G>A (p.Lys1076=)
c.3399G>A (p.Lys1133=)
c.5454G>A (p.Lys1818=)
c.5514G>A (p.Lys1838=)
c.5409G>A (p.Lys1803=)
 ClinVar
2g.26461761T>ACA346131383OTOFc.5468A>T (p.Lys1823Met)
c.3167A>T (p.Lys1056Met)
c.3227A>T (p.Lys1076Met)
c.3398A>T (p.Lys1133Met)
c.5453A>T (p.Lys1818Met)
c.5513A>T (p.Lys1838Met)
c.5408A>T (p.Lys1803Met)
2g.26461761T>CCA1562817OTOFc.5468A>G (p.Lys1823Arg)
c.3167A>G (p.Lys1056Arg)
c.3227A>G (p.Lys1076Arg)
c.3398A>G (p.Lys1133Arg)
c.5453A>G (p.Lys1818Arg)
c.5513A>G (p.Lys1838Arg)
c.5408A>G (p.Lys1803Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461761T>GCA346131382OTOFc.5468A>C (p.Lys1823Thr)
c.3167A>C (p.Lys1056Thr)
c.3227A>C (p.Lys1076Thr)
c.3398A>C (p.Lys1133Thr)
c.5453A>C (p.Lys1818Thr)
c.5513A>C (p.Lys1838Thr)
c.5408A>C (p.Lys1803Thr)
2g.26461761T=CA1239825415OTOFc.5468A= (p.Lys1823=)
c.3167A= (p.Lys1056=)
c.3227A= (p.Lys1076=)
c.3398A= (p.Lys1133=)
c.5453A= (p.Lys1818=)
c.5513A= (p.Lys1838=)
c.5408A= (p.Lys1803=)
2g.26461762T>ACA346131384OTOFc.5467A>T (p.Lys1823Ter)
c.3166A>T (p.Lys1056Ter)
c.3226A>T (p.Lys1076Ter)
c.3397A>T (p.Lys1133Ter)
c.5452A>T (p.Lys1818Ter)
c.5512A>T (p.Lys1838Ter)
c.5407A>T (p.Lys1803Ter)
2g.26461762T>CCA1562818OTOFc.5467A>G (p.Lys1823Glu)
c.3166A>G (p.Lys1056Glu)
c.3226A>G (p.Lys1076Glu)
c.3397A>G (p.Lys1133Glu)
c.5452A>G (p.Lys1818Glu)
c.5512A>G (p.Lys1838Glu)
c.5407A>G (p.Lys1803Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461762T>GCA346131385OTOFc.5467A>C (p.Lys1823Gln)
c.3166A>C (p.Lys1056Gln)
c.3226A>C (p.Lys1076Gln)
c.3397A>C (p.Lys1133Gln)
c.5452A>C (p.Lys1818Gln)
c.5512A>C (p.Lys1838Gln)
c.5407A>C (p.Lys1803Gln)
2g.26461762T=CA1239825416OTOFc.5467A= (p.Lys1823=)
c.3166A= (p.Lys1056=)
c.3226A= (p.Lys1076=)
c.3397A= (p.Lys1133=)
c.5452A= (p.Lys1818=)
c.5512A= (p.Lys1838=)
c.5407A= (p.Lys1803=)

Number of alleles fetched