Full data view for gene A1CF

Information The variants shown are described using the NM_014576.3 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-3T>A r.(=) p.(=) g.52619703A>T Copied from the Exome Variant Server A1CF_000096 1/13004 0/8600 1/4404 - - - - - - -
?/? c.3G>A r.? p.? g.52619698C>T Copied from the Exome Variant Server A1CF_000095 1/13004 1/8600 0/4404 - - - - - - -
?/? c.18A>G r.(=) p.(=) g.52619683T>C Copied from the Exome Variant Server A1CF_000094 1/13004 1/8600 0/4404 - - - - - - -
?/? c.30A>C r.(=) p.(=) g.52619671T>G Copied from the Exome Variant Server A1CF_000093 1/13004 0/8600 1/4404 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.52619638G>A Copied from the Exome Variant Server A1CF_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.74A>G r.(?) p.(Gln25Arg) g.52619627T>C Copied from the Exome Variant Server A1CF_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.81A>G r.(=) p.(=) g.52619620T>C Copied from the Exome Variant Server A1CF_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.99+28T>C r.(=) p.(=) g.52619574A>G Copied from the Exome Variant Server A1CF_000089 14/13006 0/8600 14/4406 - - - - - - -
?/? c.100-6685G>T r.(=) p.(=) g.52610567C>A Copied from the Exome Variant Server A1CF_000088 4/13006 0/8600 4/4406 - - - - - - -
?/? c.100-6671C>G r.(=) p.(=) g.52610553G>C Copied from the Exome Variant Server A1CF_000087 4/13006 0/8600 4/4406 - - - - - - -
?/? c.100-6638C>G r.(=) p.(=) g.52610520G>C Copied from the Exome Variant Server A1CF_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.100-6618G>A r.(=) p.(=) g.52610500C>T Copied from the Exome Variant Server A1CF_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.100-6553T>A r.(=) p.(=) g.52610435A>T Copied from the Exome Variant Server A1CF_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.100-6528T>C r.(=) p.(=) g.52610410A>G Copied from the Exome Variant Server A1CF_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.100-6514G>T r.(=) p.(=) g.52610396C>A Copied from the Exome Variant Server A1CF_000082 25/13006 0/8600 25/4406 - - - - - - -
?/? c.108A>G r.(=) p.(=) g.52603874T>C Copied from the Exome Variant Server A1CF_000081 90/13006 80/8600 10/4406 - - - - - - -
?/? c.129T>A r.(=) p.(=) g.52603853A>T Copied from the Exome Variant Server A1CF_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155_156insC r.(?) p.(Glu53*) g.52603826_52603827insG Copied from the Exome Variant Server A1CF_000079 1/12518 1/8254 0/4264 - - - - - - -
?/? c.194G>A r.(?) p.(Arg65Gln) g.52603788C>T Copied from the Exome Variant Server A1CF_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.218T>C r.(?) p.(Ile73Thr) g.52603764A>G Copied from the Exome Variant Server A1CF_000077 1/13004 1/8600 0/4404 - - - - - - -
?/? c.228T>C r.(=) p.(=) g.52603754A>G Copied from the Exome Variant Server A1CF_000076 82/13004 74/8600 8/4404 - - - - - - -
?/? c.234+12T>A r.(=) p.(=) g.52603736A>T Copied from the Exome Variant Server A1CF_000075 16/13000 1/8598 15/4402 - - - - - - -
?/? c.234+35G>A r.(=) p.(=) g.52603713C>T Copied from the Exome Variant Server A1CF_000074 1/13004 0/8598 1/4406 - - - - - - -
?/? c.235-41C>A r.(=) p.(=) g.52601793G>T Copied from the Exome Variant Server A1CF_000073 2/12990 0/8588 2/4402 - - - - - - -
?/? c.235-17A>G r.(=) p.(=) g.52601769T>C Copied from the Exome Variant Server A1CF_000072 1/12996 1/8594 0/4402 - - - - - - -
?/? c.235-9T>C r.(=) p.(=) g.52601761A>G Copied from the Exome Variant Server A1CF_000070 1/12996 0/8594 1/4402 - - - - - - -
?/? c.285T>C r.(=) p.(=) g.52601702A>G Copied from the Exome Variant Server A1CF_000068 16/13002 14/8598 2/4404 - - - - - - -
?/? c.342G>C r.(?) p.(Lys114Asn) g.52601645C>G Copied from the Exome Variant Server A1CF_000066 1/13002 1/8598 0/4404 - - - - - - -
?/? c.365+8C>T r.(=) p.(=) g.52601614G>A Copied from the Exome Variant Server A1CF_000064 1/13000 1/8596 0/4404 - - - - - - -
?/? c.365+9C>T r.(=) p.(=) g.52601613G>A Copied from the Exome Variant Server A1CF_000062 3/13000 3/8596 0/4404 - - - - - - -
?/? c.365+25A>C r.(=) p.(=) g.52601597T>G Copied from the Exome Variant Server A1CF_000060 2/13002 0/8596 2/4406 - - - - - - -
?/? c.366-12C>G r.(=) p.(=) g.52596084G>C Copied from the Exome Variant Server A1CF_000071 6/13006 5/8600 1/4406 - - - - - - -
?/? c.373C>T r.(?) p.(Arg125Cys) g.52596065G>A Copied from the Exome Variant Server A1CF_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.374G>A r.(?) p.(Arg125His) g.52596064C>T Copied from the Exome Variant Server A1CF_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.460T>C r.(?) p.(Ser154Pro) g.52595978A>G Copied from the Exome Variant Server A1CF_000065 5/13006 5/8600 0/4406 - - - - - - -
?/? c.461C>T r.(?) p.(Ser154Leu) g.52595977G>A Copied from the Exome Variant Server A1CF_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.52595976C>T Copied from the Exome Variant Server A1CF_000061 36/13006 0/8600 36/4406 - - - - - - -
?/? c.493G>A r.(?) p.(Asp165Asn) g.52595945C>T Copied from the Exome Variant Server A1CF_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.504C>G r.(=) p.(=) g.52595934G>C Copied from the Exome Variant Server A1CF_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.528C>A r.(=) p.(=) g.52595910G>T Copied from the Exome Variant Server A1CF_000057 19/13006 0/8600 19/4406 - - - - - - -
?/? c.535_536insC r.(?) p.(Arg179Profs*9) g.52595902_52595903insG Copied from the Exome Variant Server A1CF_000056 4/12518 3/8254 1/4264 - - - - - - -
?/? c.585G>A r.(=) p.(=) g.52595853C>T Copied from the Exome Variant Server A1CF_000055 243/13006 3/8600 240/4406 - - - - - - -
?/? c.615G>A r.(=) p.(=) g.52588045C>T Copied from the Exome Variant Server A1CF_000054 2/13004 2/8598 0/4406 - - - - - - -
?/? c.668A>G r.(?) p.(Asp223Gly) g.52587992T>C Copied from the Exome Variant Server A1CF_000053 1/13004 1/8598 0/4406 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.52587964G>A Copied from the Exome Variant Server A1CF_000052 10/13006 9/8600 1/4406 - - - - - - -
?/? c.758A>G r.(?) p.(Asn253Ser) g.52587902T>C Copied from the Exome Variant Server A1CF_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.769+9T>C r.(=) p.(=) g.52587882A>G Copied from the Exome Variant Server A1CF_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.769+10A>G r.(=) p.(=) g.52587881T>C Copied from the Exome Variant Server A1CF_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.769+23G>T r.(=) p.(=) g.52587868C>A Copied from the Exome Variant Server A1CF_000048 1/13000 0/8594 1/4406 - - - - - - -
?/? c.770-45C>T r.(=) p.(=) g.52580454G>A Copied from the Exome Variant Server A1CF_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.770G>A r.(?) p.(Gly257Asp) g.52580409C>T Copied from the Exome Variant Server A1CF_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.861T>C r.(=) p.(=) g.52580318A>G Copied from the Exome Variant Server A1CF_000045 2/13006 2/8600 0/4406 - - - - - - -
?/? c.868-29C>T r.(=) p.(=) g.52576068G>A Copied from the Exome Variant Server A1CF_000044 10098/13006 7317/8600 2781/4406 - - - - - - -
?/? c.882C>T r.(=) p.(=) g.52576025G>A Copied from the Exome Variant Server A1CF_000043 56/13006 48/8600 8/4406 - - - - - - -
?/? c.1008T>C r.(=) p.(=) g.52575899A>G Copied from the Exome Variant Server A1CF_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1050C>A r.(=) p.(=) g.52575857G>T Copied from the Exome Variant Server A1CF_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1059T>C r.(=) p.(=) g.52575848A>G Copied from the Exome Variant Server A1CF_000040 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1123C>T r.(?) p.(Arg375*) g.52575784G>A Copied from the Exome Variant Server A1CF_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1141+50C>T r.(=) p.(=) g.52575716G>A Copied from the Exome Variant Server A1CF_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1142-64_1142-63del r.(=) p.(=) g.52573861_52573862del Copied from the Exome Variant Server A1CF_000037 1/12516 0/8254 1/4262 - - - - - - -
?/? c.1142-48T>C r.(=) p.(=) g.52573846A>G Copied from the Exome Variant Server A1CF_000036 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1142-32G>A r.(=) p.(=) g.52573830C>T Copied from the Exome Variant Server A1CF_000035 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1165G>A r.(?) p.(Gly389Ser) g.52573775C>T Copied from the Exome Variant Server A1CF_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1167C>T r.(=) p.(=) g.52573773G>A Copied from the Exome Variant Server A1CF_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1168G>A r.(?) p.(Gly390Ser) g.52573772C>T Copied from the Exome Variant Server A1CF_000032 80/13006 71/8600 9/4406 - - - - - - -
?/? c.1172G>A r.(?) p.(Arg391His) g.52573768C>T Copied from the Exome Variant Server A1CF_000031 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1190C>G r.(?) p.(Thr397Arg) g.52573750G>C Copied from the Exome Variant Server A1CF_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215C>G r.(=) p.(=) g.52573725G>C Copied from the Exome Variant Server A1CF_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1236C>G r.(?) p.(Asp412Glu) g.52573704G>C Copied from the Exome Variant Server A1CF_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.52573698G>A Copied from the Exome Variant Server A1CF_000027 1207/13006 646/8600 561/4406 - - - - - - -
?/? c.1248C>T r.(=) p.(=) g.52573692G>A Copied from the Exome Variant Server A1CF_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1292T>C r.(?) p.(Leu431Ser) g.52573648A>G Copied from the Exome Variant Server A1CF_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1323+44A>G r.(=) p.(=) g.52573573T>C Copied from the Exome Variant Server A1CF_000021 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1324-49A>T r.(=) p.(=) g.52570985T>A Copied from the Exome Variant Server A1CF_000019 1/13000 1/8600 0/4400 - - - - - - -
?/? c.1324-36C>T r.(=) p.(=) g.52570972G>A Copied from the Exome Variant Server A1CF_000017 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1388T>C r.(?) p.(Ile463Thr) g.52570872A>G Copied from the Exome Variant Server A1CF_000015 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1436C>A r.(?) p.(Ala479Asp) g.52570824G>T Copied from the Exome Variant Server A1CF_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1460+24T>C r.(=) p.(=) g.52570776A>G Copied from the Exome Variant Server A1CF_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1460+29T>G r.(=) p.(=) g.52570771A>C Copied from the Exome Variant Server A1CF_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1551C>T r.(=) p.(=) g.52569712G>A Copied from the Exome Variant Server A1CF_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1591G>A r.(?) p.(Ala531Thr) g.52569672C>T Copied from the Exome Variant Server A1CF_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1609+17C>T r.(=) p.(=) g.52569637G>A Copied from the Exome Variant Server A1CF_000026 2467/13006 2198/8600 269/4406 - - - - - - -
?/? c.1609+20G>T r.(=) p.(=) g.52569634C>A Copied from the Exome Variant Server A1CF_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1609+45T>C r.(=) p.(=) g.52569609A>G Copied from the Exome Variant Server A1CF_000022 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1609+48G>A r.(=) p.(=) g.52569606C>T Copied from the Exome Variant Server A1CF_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1609+51A>G r.(=) p.(=) g.52569603T>C Copied from the Exome Variant Server A1CF_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1638C>T r.(=) p.(=) g.52566612G>A Copied from the Exome Variant Server A1CF_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1639G>A r.(?) p.(Val547Met) g.52566611C>T Copied from the Exome Variant Server A1CF_000014 430/13006 7/8600 423/4406 - - - - - - -
?/? c.1647A>C r.(=) p.(=) g.52566603T>G Copied from the Exome Variant Server A1CF_000012 131/13006 1/8600 130/4406 - - - - - - -
?/? c.1648G>T r.(?) p.(Ala550Ser) g.52566602C>A Copied from the Exome Variant Server A1CF_000010 130/13006 1/8600 129/4406 - - - - - - -
?/? c.1656C>G r.(=) p.(=) g.52566594G>C Copied from the Exome Variant Server A1CF_000008 83/13006 49/8600 34/4406 - - - - - - -
?/? c.1665G>A r.(=) p.(=) g.52566585C>T Copied from the Exome Variant Server A1CF_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1692A>T r.(=) p.(=) g.52566558T>A Copied from the Exome Variant Server A1CF_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1705G>A r.(?) p.(Glu569Lys) g.52566545C>T Copied from the Exome Variant Server A1CF_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1751G>A r.(?) p.(Gly584Asp) g.52566499C>T Copied from the Exome Variant Server A1CF_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*42A>G r.(=) p.(=) g.52566447T>C Copied from the Exome Variant Server A1CF_000001 2/13000 0/8596 2/4404 - - - - - - -
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