All transcript variants in gene FANCD2

Information The variants shown are described using the NM_001018115.1 transcript reference sequence.

310 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-33-13G>A r.(=) p.(=) g.10070296G>A Copied from the Exome Variant Server FANCD2_000001 3/13006 0/8600 3/4406
?/? c.-12A>G r.(=) p.(=) g.10070330A>G Copied from the Exome Variant Server FANCD2_000002 1/13006 1/8600 0/4406
?/? c.-6G>C r.(=) p.(=) g.10070336G>C Copied from the Exome Variant Server FANCD2_000003 16/13006 12/8600 4/4406
?/? c.28T>C r.(?) p.(Ser10Pro) g.10070369T>C Copied from the Exome Variant Server FANCD2_000004 3/13006 3/8600 0/4406
?/? c.33G>A r.(=) p.(=) g.10070374G>A Copied from the Exome Variant Server FANCD2_000005 1/13006 0/8600 1/4406
?/? c.64+12G>C r.(=) p.(=) g.10070417G>C Copied from the Exome Variant Server FANCD2_000006 398/13006 0/8600 398/4406
?/? c.64+52T>A r.(=) p.(=) g.10070457T>A Copied from the Exome Variant Server FANCD2_000007 2/7272 2/4618 0/2654
?/? c.64+53G>A r.(=) p.(=) g.10070458G>A Copied from the Exome Variant Server FANCD2_000008 3/4566 0/3182 3/1384
?/? c.65-29C>G r.(=) p.(=) g.10074487C>G Copied from the Exome Variant Server FANCD2_000009 1/12924 1/8564 0/4360
?/? c.78A>C r.(?) p.(Gln26His) g.10074529A>C Copied from the Exome Variant Server FANCD2_000010 8/12994 7/8588 1/4406
?/? c.167G>A r.(?) p.(Gly56Glu) g.10074618G>A Copied from the Exome Variant Server FANCD2_000011 1/12996 1/8592 0/4404
?/? c.176T>G r.(?) p.(Leu59Arg) g.10074627T>G Copied from the Exome Variant Server FANCD2_000012 1/12996 1/8592 0/4404
?/? c.182C>T r.(?) p.(Thr61Met) g.10074633C>T Copied from the Exome Variant Server FANCD2_000013 3/12998 1/8592 2/4406
?/? c.195G>C r.(?) p.(Gln65His) g.10074646G>C Copied from the Exome Variant Server FANCD2_000014 92/12992 1/8590 91/4402
?/? c.205+9T>G r.(=) p.(=) g.10074665T>G Copied from the Exome Variant Server FANCD2_000015 3/12922 0/8566 3/4356
?/? c.206-48A>C r.(=) p.(=) g.10076105A>C Copied from the Exome Variant Server FANCD2_000016 76/12998 1/8596 75/4402
?/? c.206-42A>G r.(=) p.(=) g.10076111A>G Copied from the Exome Variant Server FANCD2_000017 1/13002 0/8598 1/4404
?/? c.206-4A>G r.spl? p.? g.10076149A>G Copied from the Exome Variant Server FANCD2_000018 1/13006 1/8600 0/4406
?/? c.246C>T r.(=) p.(=) g.10076193C>T Copied from the Exome Variant Server FANCD2_000019 1/13006 0/8600 1/4406
?/? c.251G>A r.(?) p.(Arg84Lys) g.10076198G>A Copied from the Exome Variant Server FANCD2_000020 1/13006 1/8600 0/4406
?/? c.311T>C r.(?) p.(Ile104Thr) g.10076416T>C Copied from the Exome Variant Server FANCD2_000021 12/12980 0/8588 12/4392
?/? c.377+35C>T r.(=) p.(=) g.10076517C>T Copied from the Exome Variant Server FANCD2_000022 3/12826 3/8476 0/4350
?/? c.378-62del r.(=) p.(=) g.10076795del Copied from the Exome Variant Server FANCD2_000023 1/12506 1/8242 0/4264
?/? c.378-50A>G r.(=) p.(=) g.10076807A>G Copied from the Exome Variant Server FANCD2_000024 1/12998 0/8594 1/4404
?/? c.378-14_378-12del r.(=) p.(=) g.10076843_10076845del Copied from the Exome Variant Server FANCD2_000025 9/12520 3/8254 6/4266
?/? c.378-13_378-12del r.(=) p.(=) g.10076844_10076845del Copied from the Exome Variant Server FANCD2_000026 3196/12520 1378/8254 1818/4266
?/? c.378-12del r.(=) p.(=) g.10076845del Copied from the Exome Variant Server FANCD2_000027 1360/12520 1062/8254 298/4266
?/? c.436C>T r.(?) p.(Gln146*) g.10076915C>T Copied from the Exome Variant Server FANCD2_000028 1/13006 1/8600 0/4406
?/? c.438+48G>A r.(=) p.(=) g.10076965G>A Copied from the Exome Variant Server FANCD2_000029 1/13006 1/8600 0/4406
?/? c.438+50G>A r.(=) p.(=) g.10076967G>A Copied from the Exome Variant Server FANCD2_000030 1/13006 1/8600 0/4406
?/? c.438+58A>C r.(=) p.(=) g.10076975A>C Copied from the Exome Variant Server FANCD2_000031 958/4566 508/3182 450/1384
?/? c.439-49A>G r.(=) p.(=) g.10077922A>G Copied from the Exome Variant Server FANCD2_000032 1/13004 0/8598 1/4406
?/? c.439-31A>G r.(=) p.(=) g.10077940A>G Copied from the Exome Variant Server FANCD2_000033 2/13004 2/8598 0/4406
?/? c.439-16A>G r.(=) p.(=) g.10077955A>G Copied from the Exome Variant Server FANCD2_000034 2841/13004 1414/8598 1427/4406
?/? c.455C>T r.(?) p.(Thr152Ile) g.10077987C>T Copied from the Exome Variant Server FANCD2_000035 1/13006 1/8600 0/4406
?/? c.469T>C r.(=) p.(=) g.10078001T>C Copied from the Exome Variant Server FANCD2_000036 1/13004 0/8598 1/4406
?/? c.491+9C>T r.(=) p.(=) g.10078032C>T Copied from the Exome Variant Server FANCD2_000037 2/13004 1/8598 1/4406
?/? c.491+10G>A r.(=) p.(=) g.10078033G>A Copied from the Exome Variant Server FANCD2_000038 17/13004 16/8598 1/4406
?/? c.491+19G>A r.(=) p.(=) g.10078042G>A Copied from the Exome Variant Server FANCD2_000039 1/13004 1/8598 0/4406
?/? c.492-53G>A r.(=) p.(=) g.10080910G>A Copied from the Exome Variant Server FANCD2_000040 1/4566 1/3182 0/1384
?/? c.516A>G r.(?) p.(Ile172Met) g.10080987A>G Copied from the Exome Variant Server FANCD2_000041 310/13006 0/8600 310/4406
?/? c.521G>A r.(?) p.(Arg174Gln) g.10080992G>A Copied from the Exome Variant Server FANCD2_000042 1/13006 1/8600 0/4406
?/? c.538C>T r.(=) p.(=) g.10081009C>T Copied from the Exome Variant Server FANCD2_000043 3/13006 1/8600 2/4406
?/? c.563A>T r.(?) p.(Asp188Val) g.10081034A>T Copied from the Exome Variant Server FANCD2_000044 1/13006 0/8600 1/4406
?/? c.570+22C>T r.(=) p.(=) g.10081063C>T Copied from the Exome Variant Server FANCD2_000045 3/13006 3/8600 0/4406
?/? c.570+38A>G r.(=) p.(=) g.10081079A>G Copied from the Exome Variant Server FANCD2_000046 1/13002 0/8596 1/4406
?/? c.571-43T>G r.(=) p.(=) g.10081362T>G Copied from the Exome Variant Server FANCD2_000048 1/13006 1/8600 0/4406
?/? c.571-31G>A r.(=) p.(=) g.10081374G>A Copied from the Exome Variant Server FANCD2_000050 463/13006 0/8600 463/4406
?/? c.571-29T>A r.(=) p.(=) g.10081376T>A Copied from the Exome Variant Server FANCD2_000052 15/13006 0/8600 15/4406
?/? c.571-3C>T r.spl? p.? g.10081402C>T Copied from the Exome Variant Server FANCD2_000054 1/13006 1/8600 0/4406
?/? c.577A>G r.(?) p.(Thr193Ala) g.10081411A>G Copied from the Exome Variant Server FANCD2_000056 10/13006 6/8600 4/4406
?/? c.609T>C r.(=) p.(=) g.10081443T>C Copied from the Exome Variant Server FANCD2_000058 1/13006 0/8600 1/4406
?/? c.660G>A r.(=) p.(=) g.10081494G>A Copied from the Exome Variant Server FANCD2_000060 1/13006 1/8600 0/4406
?/? c.672C>T r.(=) p.(=) g.10081506C>T Copied from the Exome Variant Server FANCD2_000062 2/13006 2/8600 0/4406
?/? c.695+16G>C r.(=) p.(=) g.10081545G>C Copied from the Exome Variant Server FANCD2_000064 2822/13006 1407/8600 1415/4406
?/? c.695+19A>G r.(=) p.(=) g.10081548A>G Copied from the Exome Variant Server FANCD2_000066 1/13006 1/8600 0/4406
?/? c.695+41A>G r.(=) p.(=) g.10081570A>G Copied from the Exome Variant Server FANCD2_000047 2/13006 0/8600 2/4406
?/? c.696-30A>G r.(=) p.(=) g.10083277A>G Copied from the Exome Variant Server FANCD2_000049 1/13006 1/8600 0/4406
?/? c.696-29C>T r.(=) p.(=) g.10083278C>T Copied from the Exome Variant Server FANCD2_000051 1/13006 0/8600 1/4406
?/? c.696-18T>G r.(=) p.(=) g.10083289T>G Copied from the Exome Variant Server FANCD2_000053 1/13006 1/8600 0/4406
?/? c.696-11A>G r.(=) p.(=) g.10083296A>G Copied from the Exome Variant Server FANCD2_000055 2/13006 2/8600 0/4406
?/? c.696T>C r.(=) p.(=) g.10083307T>C Copied from the Exome Variant Server FANCD2_000057 1/13006 0/8600 1/4406
?/? c.710A>G r.(?) p.(Glu237Gly) g.10083321A>G Copied from the Exome Variant Server FANCD2_000059 1/13006 1/8600 0/4406
?/? c.757C>T r.(?) p.(Arg253*) g.10083368C>T Copied from the Exome Variant Server FANCD2_000061 1/13006 1/8600 0/4406
?/? c.784-19C>T r.(=) p.(=) g.10084224C>T Copied from the Exome Variant Server FANCD2_000063 3286/13006 1413/8600 1873/4406
?/? c.792G>C r.(?) p.(Gln264His) g.10084251G>C Copied from the Exome Variant Server FANCD2_000065 1/13006 1/8600 0/4406
?/? c.808T>G r.(?) p.(Leu270Val) g.10084267T>G Copied from the Exome Variant Server FANCD2_000067 4/13006 0/8600 4/4406
?/? c.865G>A r.(?) p.(Val289Ile) g.10084324G>A Copied from the Exome Variant Server FANCD2_000068 1/13006 0/8600 1/4406
?/? c.888+49A>G r.(=) p.(=) g.10084396A>G Copied from the Exome Variant Server FANCD2_000069 101/13006 1/8600 100/4406
?/? c.889-50_889-49insA r.(=) p.(=) g.10084684_10084685insA Copied from the Exome Variant Server FANCD2_000070 1/12520 0/8254 1/4266
?/? c.889-36G>C r.(=) p.(=) g.10084698G>C Copied from the Exome Variant Server FANCD2_000071 1/13006 1/8600 0/4406
?/? c.908A>G r.(?) p.(Glu303Gly) g.10084753A>G Copied from the Exome Variant Server FANCD2_000072 1/13006 1/8600 0/4406
?/? c.921G>A r.(=) p.(=) g.10084766G>A Copied from the Exome Variant Server FANCD2_000073 1/13006 0/8600 1/4406
?/? c.983G>A r.(?) p.(Arg328Gln) g.10084828G>A Copied from the Exome Variant Server FANCD2_000074 3/13006 2/8600 1/4406
?/? c.986C>G r.(?) p.(Ala329Gly) g.10084831C>G Copied from the Exome Variant Server FANCD2_000075 13/13006 0/8600 13/4406
?/? c.989+23del r.(=) p.(=) g.10084857del Copied from the Exome Variant Server FANCD2_000076 1/12520 1/8254 0/4266
?/? c.989+47C>T r.(=) p.(=) g.10084881C>T Copied from the Exome Variant Server FANCD2_000077 14/13006 13/8600 1/4406
?/? c.990-42G>A r.(=) p.(=) g.10085126G>A Copied from the Exome Variant Server FANCD2_000078 1/12942 0/8584 1/4358
?/? c.990-38C>G r.(=) p.(=) g.10085130C>G Copied from the Exome Variant Server FANCD2_000079 3149/12956 1385/8590 1764/4366
?/? c.990-1G>A r.spl? p.? g.10085167G>A Copied from the Exome Variant Server FANCD2_000080 2/12996 0/8596 2/4400
?/? c.1015G>A r.(?) p.(Gly339Ser) g.10085193G>A Copied from the Exome Variant Server FANCD2_000081 2/13004 1/8598 1/4406
?/? c.1098+27A>G r.(=) p.(=) g.10085303A>G Copied from the Exome Variant Server FANCD2_000082 3/12996 0/8594 3/4402
?/? c.1098+46A>G r.(=) p.(=) g.10085322A>G Copied from the Exome Variant Server FANCD2_000083 2/13002 2/8600 0/4402
?/? c.1099-52G>A r.(=) p.(=) g.10085461G>A Copied from the Exome Variant Server FANCD2_000084 1/10298 1/7162 0/3136
?/? c.1099-45G>A r.(=) p.(=) g.10085468G>A Copied from the Exome Variant Server FANCD2_000085 2/13004 0/8598 2/4406
?/? c.1099-18T>C r.(=) p.(=) g.10085495T>C Copied from the Exome Variant Server FANCD2_000086 1/13004 0/8598 1/4406
?/? c.1099G>T r.(?) p.(Ala367Ser) g.10085513G>T Copied from the Exome Variant Server FANCD2_000087 1/13000 1/8594 0/4406
?/? c.1116C>T r.(=) p.(=) g.10085530C>T Copied from the Exome Variant Server FANCD2_000088 1/13000 1/8596 0/4404
?/? c.1118C>T r.(?) p.(Ser373Leu) g.10085532C>T Copied from the Exome Variant Server FANCD2_000089 1/13000 1/8596 0/4404
?/? c.1127A>C r.(?) p.(Glu376Ala) g.10085541A>C Copied from the Exome Variant Server FANCD2_000090 1/13000 0/8596 1/4404
?/? c.1130A>G r.(?) p.(His377Arg) g.10085544A>G Copied from the Exome Variant Server FANCD2_000091 12/13000 0/8596 12/4404
?/? c.1134+8T>G r.(=) p.(=) g.10085556T>G Copied from the Exome Variant Server FANCD2_000092 8/12998 7/8592 1/4406
?/? c.1134+17A>G r.(=) p.(=) g.10085565A>G Copied from the Exome Variant Server FANCD2_000093 9/13000 0/8594 9/4406
?/? c.1134+20C>T r.(=) p.(=) g.10085568C>T Copied from the Exome Variant Server FANCD2_000094 2/13000 2/8594 0/4406
?/? c.1143C>T r.(=) p.(=) g.10088272C>T Copied from the Exome Variant Server FANCD2_000095 4/13006 1/8600 3/4406
?/? c.1220T>G r.(?) p.(Ile407Ser) g.10088349T>G Copied from the Exome Variant Server FANCD2_000096 1/13006 0/8600 1/4406
?/? c.1223G>A r.(?) p.(Arg408Gln) g.10088352G>A Copied from the Exome Variant Server FANCD2_000097 1/13006 1/8600 0/4406
?/? c.1235T>C r.(?) p.(Ile412Thr) g.10088364T>C Copied from the Exome Variant Server FANCD2_000098 1/13006 1/8600 0/4406
?/? c.1238A>G r.(?) p.(Gln413Arg) g.10088367A>G Copied from the Exome Variant Server FANCD2_000099 1/13006 0/8600 1/4406
?/? c.1278+1del r.spl? p.? g.10088408del Copied from the Exome Variant Server FANCD2_000100 2171/12478 1328/8220 843/4258
Legend   « First ‹ Prev     1 2 3 4     Next › Last »