All transcript variants in gene AFF4

Information The variants shown are described using the NM_014423.3 transcript reference sequence.

153 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-4-41C>G r.(=) p.(=) g.132272926G>C Copied from the Exome Variant Server AFF4_000153 2/12998 1/8594 1/4404
?/? c.-4-19A>C r.(=) p.(=) g.132272904T>G Copied from the Exome Variant Server AFF4_000152 1/13006 1/8600 0/4406
?/? c.-4-12T>C r.(=) p.(=) g.132272897A>G Copied from the Exome Variant Server AFF4_000151 1/13006 1/8600 0/4406
?/? c.81C>T r.(=) p.(=) g.132272801G>A Copied from the Exome Variant Server AFF4_000150 1/13006 1/8600 0/4406
?/? c.86C>T r.(?) p.(Pro29Leu) g.132272796G>A Copied from the Exome Variant Server AFF4_000149 1/13006 0/8600 1/4406
?/? c.123+18G>C r.(=) p.(=) g.132272741C>G Copied from the Exome Variant Server AFF4_000148 1/13006 0/8600 1/4406
?/? c.123+39A>C r.(=) p.(=) g.132272720T>G Copied from the Exome Variant Server AFF4_000147 2/13006 0/8600 2/4406
?/? c.124-30A>T r.(=) p.(=) g.132270663T>A Copied from the Exome Variant Server AFF4_000146 3929/11516 2350/7938 1579/3578
?/? c.124-23T>A r.(=) p.(=) g.132270656A>T Copied from the Exome Variant Server AFF4_000145 23/11692 5/8054 18/3638
?/? c.124-12del r.(=) p.(=) g.132270645del Copied from the Exome Variant Server AFF4_000144 16/11674 8/7966 8/3708
?/? c.161G>A r.(?) p.(Ser54Asn) g.132270596C>T Copied from the Exome Variant Server AFF4_000143 1/13006 1/8600 0/4406
?/? c.164T>C r.(?) p.(Met55Thr) g.132270593A>G Copied from the Exome Variant Server AFF4_000142 1/13006 1/8600 0/4406
?/? c.177C>T r.(=) p.(=) g.132270580G>A Copied from the Exome Variant Server AFF4_000141 1/13006 1/8600 0/4406
?/? c.211A>G r.(?) p.(Ile71Val) g.132270546T>C Copied from the Exome Variant Server AFF4_000140 1/13006 0/8600 1/4406
?/? c.229A>G r.(?) p.(Ile77Val) g.132270528T>C Copied from the Exome Variant Server AFF4_000139 1/13006 0/8600 1/4406
?/? c.329C>T r.(?) p.(Pro110Leu) g.132270428G>A Copied from the Exome Variant Server AFF4_000138 1/13006 1/8600 0/4406
?/? c.339C>T r.(=) p.(=) g.132270418G>A Copied from the Exome Variant Server AFF4_000136 5/13006 5/8600 0/4406
?/? c.406A>C r.(?) p.(Thr136Pro) g.132270351T>G Copied from the Exome Variant Server AFF4_000134 122/13006 0/8600 122/4406
?/? c.427G>A r.(?) p.(Gly143Ser) g.132270330C>T Copied from the Exome Variant Server AFF4_000132 10/13006 0/8600 10/4406
?/? c.472A>C r.(?) p.(Asn158His) g.132270285T>G Copied from the Exome Variant Server AFF4_000130 1/13006 1/8600 0/4406
?/? c.499G>A r.(?) p.(Gly167Ser) g.132270258C>T Copied from the Exome Variant Server AFF4_000137 1/13006 1/8600 0/4406
?/? c.521C>G r.(?) p.(Ser174Cys) g.132270236G>C Copied from the Exome Variant Server AFF4_000135 1/13006 0/8600 1/4406
?/? c.554A>T r.(?) p.(Gln185Leu) g.132270203T>A Copied from the Exome Variant Server AFF4_000133 6/13006 4/8600 2/4406
?/? c.673C>G r.(?) p.(Arg225Gly) g.132270084G>C Copied from the Exome Variant Server AFF4_000131 3/13006 3/8600 0/4406
?/? c.676G>A r.(?) p.(Val226Ile) g.132270081C>T Copied from the Exome Variant Server AFF4_000129 1/13006 0/8600 1/4406
?/? c.680C>A r.(?) p.(Pro227His) g.132270077G>T Copied from the Exome Variant Server AFF4_000128 1/13006 0/8600 1/4406
?/? c.810G>A r.(=) p.(=) g.132269947C>T Copied from the Exome Variant Server AFF4_000127 136/13006 3/8600 133/4406
?/? c.819G>A r.(=) p.(=) g.132269938C>T Copied from the Exome Variant Server AFF4_000126 62/13006 8/8600 54/4406
?/? c.820C>T r.(?) p.(His274Tyr) g.132269937G>A Copied from the Exome Variant Server AFF4_000125 1/13006 1/8600 0/4406
?/? c.824A>G r.(?) p.(Tyr275Cys) g.132269933T>C Copied from the Exome Variant Server AFF4_000124 1/13006 1/8600 0/4406
?/? c.830G>C r.(?) p.(Ser277Thr) g.132269927C>G Copied from the Exome Variant Server AFF4_000123 16/13006 16/8600 0/4406
?/? c.845A>G r.(?) p.(Asn282Ser) g.132269912T>C Copied from the Exome Variant Server AFF4_000122 1/13006 1/8600 0/4406
?/? c.888C>T r.(=) p.(=) g.132269869G>A Copied from the Exome Variant Server AFF4_000121 1/13006 1/8600 0/4406
?/? c.918T>C r.(=) p.(=) g.132269839A>G Copied from the Exome Variant Server AFF4_000120 9/13006 0/8600 9/4406
?/? c.918+28A>G r.(=) p.(=) g.132269811T>C Copied from the Exome Variant Server AFF4_000119 1/13006 1/8600 0/4406
?/? c.918+29T>C r.(=) p.(=) g.132269810A>G Copied from the Exome Variant Server AFF4_000118 51/13006 50/8600 1/4406
?/? c.918+33G>C r.(=) p.(=) g.132269806C>G Copied from the Exome Variant Server AFF4_000117 4/13006 4/8600 0/4406
?/? c.918+39G>A r.(=) p.(=) g.132269800C>T Copied from the Exome Variant Server AFF4_000116 1/13004 0/8600 1/4404
?/? c.919-7T>G r.(=) p.(=) g.132267921A>C Copied from the Exome Variant Server AFF4_000115 6/13004 0/8598 6/4406
?/? c.963+10_963+11insA r.(=) p.(=) g.132267859_132267860insT Copied from the Exome Variant Server AFF4_000114 1467/12508 1317/8246 150/4262
?/? c.963+18_963+19insAA r.(=) p.(=) g.132267851_132267852insTT Copied from the Exome Variant Server AFF4_000113 625/12506 554/8244 71/4262
?/? c.963+19del r.(=) p.(=) g.132267851del Copied from the Exome Variant Server AFF4_000112 62/12506 37/8244 25/4262
?/? c.963+19dup r.(=) p.(=) g.132267851dup Copied from the Exome Variant Server AFF4_000111 856/12506 774/8244 82/4262
?/? c.995C>T r.(?) p.(Thr332Met) g.132262868G>A Copied from the Exome Variant Server AFF4_000110 1/13006 1/8600 0/4406
?/? c.1050+41_1050+42del r.(=) p.(=) g.132262771_132262772del Copied from the Exome Variant Server AFF4_000109 15/12518 14/8254 1/4264
?/? c.1050+852A>G r.(=) p.(=) g.132261961T>C Copied from the Exome Variant Server AFF4_000108 1/5734 0/3982 1/1752
?/? c.1050+883C>T r.(=) p.(=) g.132261930G>A Copied from the Exome Variant Server AFF4_000107 2/5734 2/3982 0/1752
?/? c.1050+919C>A r.(=) p.(=) g.132261894G>T Copied from the Exome Variant Server AFF4_000106 3/5734 2/3982 1/1752
?/? c.1051-55A>G r.(=) p.(=) g.132240151T>C Copied from the Exome Variant Server AFF4_000105 531/4546 490/3162 41/1384
?/? c.1051-25del r.(=) p.(=) g.132240121del Copied from the Exome Variant Server AFF4_000104 1/12500 1/8240 0/4260
?/? c.1051-17A>C r.(=) p.(=) g.132240113T>G Copied from the Exome Variant Server AFF4_000103 243/12990 2/8588 241/4402
?/? c.1051-13T>A r.(=) p.(=) g.132240109A>T Copied from the Exome Variant Server AFF4_000102 4/12990 4/8588 0/4402
?/? c.1067A>G r.(?) p.(Asn356Ser) g.132240080T>C Copied from the Exome Variant Server AFF4_000101 1/13002 0/8596 1/4406
?/? c.1087+12_1087+15del r.(=) p.(=) g.132240045_132240048del Copied from the Exome Variant Server AFF4_000100 150/12516 76/8252 74/4264
?/? c.1088-22C>T r.(=) p.(=) g.132238201G>A Copied from the Exome Variant Server AFF4_000099 3/13002 0/8598 3/4404
?/? c.1133+20A>G r.(=) p.(=) g.132238114T>C Copied from the Exome Variant Server AFF4_000098 1/13004 1/8600 0/4404
?/? c.1133+55del r.(=) p.(=) g.132238079del Copied from the Exome Variant Server AFF4_000097 1/12490 0/8244 1/4246
?/? c.1134-65_1134-64insAT r.(=) p.(=) g.132235397_132235398insAT Copied from the Exome Variant Server AFF4_000096 1/12502 1/8242 0/4260
?/? c.1134-13_1134-11del r.(=) p.(=) g.132235344_132235346del Copied from the Exome Variant Server AFF4_000095 1/12508 0/8244 1/4264
?/? c.1188+27C>T r.(=) p.(=) g.132235252G>A Copied from the Exome Variant Server AFF4_000094 16/13004 16/8598 0/4406
?/? c.1188+37T>C r.(=) p.(=) g.132235242A>G Copied from the Exome Variant Server AFF4_000093 4/13000 4/8594 0/4406
?/? c.1188+52A>T r.(=) p.(=) g.132235227T>A Copied from the Exome Variant Server AFF4_000092 1/10286 0/7150 1/3136
?/? c.1189-16T>C r.(=) p.(=) g.132234849A>G Copied from the Exome Variant Server AFF4_000091 1/13002 0/8596 1/4406
?/? c.1204A>G r.(?) p.(Met402Val) g.132234818T>C Copied from the Exome Variant Server AFF4_000090 2/13006 2/8600 0/4406
?/? c.1226+18T>A r.(=) p.(=) g.132234778A>T Copied from the Exome Variant Server AFF4_000089 1/13006 0/8600 1/4406
?/? c.1227-15T>C r.(=) p.(=) g.132234099A>G Copied from the Exome Variant Server AFF4_000087 2/13006 1/8600 1/4406
?/? c.1237C>A r.(?) p.(Pro413Thr) g.132234074G>T Copied from the Exome Variant Server AFF4_000085 2/13006 0/8600 2/4406
?/? c.1377T>G r.(?) p.(Ser459Arg) g.132233934A>C Copied from the Exome Variant Server AFF4_000083 1/13006 0/8600 1/4406
?/? c.1389+12G>T r.(=) p.(=) g.132233910C>A Copied from the Exome Variant Server AFF4_000081 11/13006 0/8600 11/4406
?/? c.1389+15G>A r.(=) p.(=) g.132233907C>T Copied from the Exome Variant Server AFF4_000079 2/13006 2/8600 0/4406
?/? c.1389+47C>A r.(=) p.(=) g.132233875G>T Copied from the Exome Variant Server AFF4_000088 1/13006 1/8600 0/4406
?/? c.1389+52T>G r.(=) p.(=) g.132233870A>C Copied from the Exome Variant Server AFF4_000086 1/5734 0/3982 1/1752
?/? c.1390-37G>T r.(=) p.(=) g.132232969C>A Copied from the Exome Variant Server AFF4_000084 2/13000 0/8594 2/4406
?/? c.1390-32G>A r.(=) p.(=) g.132232964C>T Copied from the Exome Variant Server AFF4_000082 2/13002 2/8596 0/4406
?/? c.1390-23A>G r.(=) p.(=) g.132232955T>C Copied from the Exome Variant Server AFF4_000080 29/13002 0/8596 29/4406
?/? c.1401G>T r.(=) p.(=) g.132232921C>A Copied from the Exome Variant Server AFF4_000078 1/13006 1/8600 0/4406
?/? c.1473A>G r.(=) p.(=) g.132232849T>C Copied from the Exome Variant Server AFF4_000077 1/13006 0/8600 1/4406
?/? c.1530C>T r.(=) p.(=) g.132232792G>A Copied from the Exome Variant Server AFF4_000076 24/13006 0/8600 24/4406
?/? c.1592G>A r.(?) p.(Arg531Gln) g.132232730C>T Copied from the Exome Variant Server AFF4_000075 1/13006 1/8600 0/4406
?/? c.1756A>G r.(?) p.(Ser586Gly) g.132232566T>C Copied from the Exome Variant Server AFF4_000074 1/13006 0/8600 1/4406
?/? c.1835A>G r.(?) p.(Asn612Ser) g.132232487T>C Copied from the Exome Variant Server AFF4_000073 3/13006 3/8600 0/4406
?/? c.1839A>G r.(?) p.(Ile613Met) g.132232483T>C Copied from the Exome Variant Server AFF4_000072 1/13006 1/8600 0/4406
?/? c.1868C>G r.(?) p.(Pro623Arg) g.132232454G>C Copied from the Exome Variant Server AFF4_000071 1/13006 0/8600 1/4406
?/? c.1889A>G r.(?) p.(Tyr630Cys) g.132232433T>C Copied from the Exome Variant Server AFF4_000070 1/13006 0/8600 1/4406
?/? c.1927A>G r.(?) p.(Ile643Val) g.132232395T>C Copied from the Exome Variant Server AFF4_000069 10/13006 0/8600 10/4406
?/? c.2007C>T r.(=) p.(=) g.132232315G>A Copied from the Exome Variant Server AFF4_000068 1531/13006 1370/8600 161/4406
?/? c.2016T>C r.(=) p.(=) g.132232306A>G Copied from the Exome Variant Server AFF4_000067 2/13006 1/8600 1/4406
?/? c.2027T>G r.(?) p.(Val676Gly) g.132232295A>C Copied from the Exome Variant Server AFF4_000066 1/13006 0/8600 1/4406
?/? c.2065C>T r.(?) p.(Arg689Trp) g.132232257G>A Copied from the Exome Variant Server AFF4_000065 1/13006 1/8600 0/4406
?/? c.2128G>A r.(?) p.(Asp710Asn) g.132232194C>T Copied from the Exome Variant Server AFF4_000064 1/13006 1/8600 0/4406
?/? c.2174G>C r.(?) p.(Arg725Thr) g.132232148C>G Copied from the Exome Variant Server AFF4_000063 8/13006 0/8600 8/4406
?/? c.2208G>A r.(=) p.(=) g.132232114C>T Copied from the Exome Variant Server AFF4_000062 1/13006 1/8600 0/4406
?/? c.2247G>A r.(=) p.(=) g.132232075C>T Copied from the Exome Variant Server AFF4_000061 1/13006 1/8600 0/4406
?/? c.2302C>A r.(?) p.(His768Asn) g.132232020G>T Copied from the Exome Variant Server AFF4_000060 1/13006 1/8600 0/4406
?/? c.2307+20T>A r.(=) p.(=) g.132231995A>T Copied from the Exome Variant Server AFF4_000059 1/13006 0/8600 1/4406
?/? c.2307+51C>G r.(=) p.(=) g.132231964G>C Copied from the Exome Variant Server AFF4_000058 3/13006 3/8600 0/4406
?/? c.2307+52G>A r.(=) p.(=) g.132231963C>T Copied from the Exome Variant Server AFF4_000057 35/5734 32/3982 3/1752
?/? c.2308-13A>G r.(=) p.(=) g.132228823T>C Copied from the Exome Variant Server AFF4_000056 14/13006 0/8600 14/4406
?/? c.2308-6A>G r.(=) p.(=) g.132228816T>C Copied from the Exome Variant Server AFF4_000055 1/13006 1/8600 0/4406
?/? c.2396+4C>T r.spl? p.? g.132228718G>A Copied from the Exome Variant Server AFF4_000054 1/13006 1/8600 0/4406
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