All transcript variants in gene APEX2

Information The variants shown are described using the NM_014481.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48G>T r.(=) p.(=) g.55026808G>T Copied from the Exome Variant Server APEX2_000001 1/10365 0/6594 1/3771
?/? c.-6T>G r.(=) p.(=) g.55026850T>G Copied from the Exome Variant Server APEX2_000002 228/10552 1/6720 227/3832
?/? c.45C>T r.(=) p.(=) g.55026900C>T Copied from the Exome Variant Server APEX2_000003 3/10563 3/6728 0/3835
?/? c.50A>G r.(?) p.(Gln17Arg) g.55026905A>G Copied from the Exome Variant Server APEX2_000004 1/10563 0/6728 1/3835
?/? c.93C>G r.(=) p.(=) g.55026948C>G Copied from the Exome Variant Server APEX2_000005 11/10563 0/6728 11/3835
?/? c.157+3G>T r.spl? p.? g.55027015G>T Copied from the Exome Variant Server APEX2_000006 1/10563 1/6728 0/3835
?/? c.158-45A>T r.(=) p.(=) g.55027934A>T Copied from the Exome Variant Server APEX2_000007 2/10535 2/6707 0/3828
?/? c.158-14_158-12del r.(=) p.(=) g.55027965_55027967del Copied from the Exome Variant Server APEX2_000008 42/10202 37/6481 5/3721
?/? c.158-13_158-12del r.(=) p.(=) g.55027966_55027967del Copied from the Exome Variant Server APEX2_000009 56/10202 43/6481 13/3721
?/? c.158-12del r.(=) p.(=) g.55027967del Copied from the Exome Variant Server APEX2_000011 1352/10202 348/6481 1004/3721
?/? c.158-12dup r.(=) p.(=) g.55027967dup Copied from the Exome Variant Server APEX2_000010 229/10202 189/6481 40/3721
?/? c.174G>A r.(=) p.(=) g.55027995G>A Copied from the Exome Variant Server APEX2_000012 1/10563 0/6728 1/3835
?/? c.177C>T r.(=) p.(=) g.55027998C>T Copied from the Exome Variant Server APEX2_000013 64/10563 57/6728 7/3835
?/? c.220C>T r.(?) p.(Arg74Cys) g.55028041C>T Copied from the Exome Variant Server APEX2_000014 1/10563 1/6728 0/3835
?/? c.221G>A r.(?) p.(Arg74His) g.55028042G>A Copied from the Exome Variant Server APEX2_000015 1/10563 1/6728 0/3835
?/? c.230G>A r.(?) p.(Ser77Asn) g.55028051G>A Copied from the Exome Variant Server APEX2_000016 1/10562 1/6727 0/3835
?/? c.242-30G>A r.(=) p.(=) g.55028654G>A Copied from the Exome Variant Server APEX2_000017 2/10562 2/6727 0/3835
?/? c.249C>T r.(=) p.(=) g.55028691C>T Copied from the Exome Variant Server APEX2_000018 80/10562 72/6727 8/3835
?/? c.354G>A r.(=) p.(=) g.55028796G>A Copied from the Exome Variant Server APEX2_000019 1/10563 1/6728 0/3835
?/? c.408A>G r.(=) p.(=) g.55028850A>G Copied from the Exome Variant Server APEX2_000020 1/10563 1/6728 0/3835
?/? c.421C>T r.(?) p.(Arg141Cys) g.55028863C>T Copied from the Exome Variant Server APEX2_000021 41/10563 39/6728 2/3835
?/? c.422+11A>G r.(=) p.(=) g.55028875A>G Copied from the Exome Variant Server APEX2_000022 1/10563 1/6728 0/3835
?/? c.422+17C>G r.(=) p.(=) g.55028881C>G Copied from the Exome Variant Server APEX2_000023 1/10563 0/6728 1/3835
?/? c.422+27G>A r.(=) p.(=) g.55028891G>A Copied from the Exome Variant Server APEX2_000024 2/10563 2/6728 0/3835
?/? c.423-26_423-25del r.(=) p.(=) g.55029369_55029370del Copied from the Exome Variant Server APEX2_000025 2/10205 2/6484 0/3721
?/? c.434G>T r.(?) p.(Gly145Val) g.55029406G>T Copied from the Exome Variant Server APEX2_000026 1/10563 1/6728 0/3835
?/? c.507C>T r.(=) p.(=) g.55029479C>T Copied from the Exome Variant Server APEX2_000027 2/10563 0/6728 2/3835
?/? c.531G>T r.(?) p.(Leu177Phe) g.55029503G>T Copied from the Exome Variant Server APEX2_000028 2/10563 2/6728 0/3835
?/? c.555C>G r.(=) p.(=) g.55029527C>G Copied from the Exome Variant Server APEX2_000030 2/10563 2/6728 0/3835
?/? c.561G>A r.(=) p.(=) g.55029533G>A Copied from the Exome Variant Server APEX2_000031 1/10563 1/6728 0/3835
?/? c.569+11C>G r.(=) p.(=) g.55029552C>G Copied from the Exome Variant Server APEX2_000034 23/10563 0/6728 23/3835
?/? c.570-39C>G r.(=) p.(=) g.55030193C>G Copied from the Exome Variant Server APEX2_000036 4/10563 0/6728 4/3835
?/? c.570-16A>G r.(=) p.(=) g.55030216A>G Copied from the Exome Variant Server APEX2_000037 25/10563 25/6728 0/3835
?/? c.583C>T r.(=) p.(=) g.55030245C>T Copied from the Exome Variant Server APEX2_000039 1/10563 1/6728 0/3835
?/? c.592C>G r.(?) p.(Leu198Val) g.55030254C>G Copied from the Exome Variant Server APEX2_000041 1/10563 1/6728 0/3835
?/? c.603C>G r.(=) p.(=) g.55030265C>G Copied from the Exome Variant Server APEX2_000043 1/10563 0/6728 1/3835
?/? c.639+11C>G r.(=) p.(=) g.55030312C>G Copied from the Exome Variant Server APEX2_000029 1/10563 1/6728 0/3835
?/? c.639+19G>A r.(=) p.(=) g.55030320G>A Copied from the Exome Variant Server APEX2_000032 110/10563 102/6728 8/3835
?/? c.639+21C>T r.(=) p.(=) g.55030322C>T Copied from the Exome Variant Server APEX2_000033 3/10563 0/6728 3/3835
?/? c.717T>C r.(=) p.(=) g.55033028T>C Copied from the Exome Variant Server APEX2_000035 7/10563 5/6728 2/3835
?/? c.805C>T r.(?) p.(His269Tyr) g.55033116C>T Copied from the Exome Variant Server APEX2_000038 2/10562 2/6727 0/3835
?/? c.813C>A r.(?) p.(Asn271Lys) g.55033124C>A Copied from the Exome Variant Server APEX2_000040 2/10563 2/6728 0/3835
?/? c.835G>T r.(?) p.(Val279Leu) g.55033146G>T Copied from the Exome Variant Server APEX2_000042 5/10563 0/6728 5/3835
?/? c.925G>A r.(?) p.(Ala309Thr) g.55033236G>A Copied from the Exome Variant Server APEX2_000044 1/10563 1/6728 0/3835
?/? c.927A>G r.(=) p.(=) g.55033238A>G Copied from the Exome Variant Server APEX2_000045 212/10563 1/6728 211/3835
?/? c.979C>T r.(?) p.(Arg327Cys) g.55033290C>T Copied from the Exome Variant Server APEX2_000046 4/10563 3/6728 1/3835
?/? c.996T>C r.(=) p.(=) g.55033307T>C Copied from the Exome Variant Server APEX2_000047 598/10563 2/6728 596/3835
?/? c.1022G>A r.(?) p.(Arg341His) g.55033333G>A Copied from the Exome Variant Server APEX2_000048 1/10563 1/6728 0/3835
?/? c.1038C>A r.(=) p.(=) g.55033349C>A Copied from the Exome Variant Server APEX2_000049 246/10563 228/6728 18/3835
?/? c.1039G>A r.(?) p.(Glu347Lys) g.55033350G>A Copied from the Exome Variant Server APEX2_000050 1/10563 0/6728 1/3835
?/? c.1123C>T r.(?) p.(Arg375Cys) g.55033434C>T Copied from the Exome Variant Server APEX2_000052 2/10563 2/6728 0/3835
?/? c.1124G>A r.(?) p.(Arg375His) g.55033435G>A Copied from the Exome Variant Server APEX2_000054 1/10563 1/6728 0/3835
?/? c.1130C>T r.(?) p.(Thr377Ile) g.55033441C>T Copied from the Exome Variant Server APEX2_000056 2/10563 0/6728 2/3835
?/? c.1252A>G r.(?) p.(Met418Val) g.55033563A>G Copied from the Exome Variant Server APEX2_000058 4/10563 0/6728 4/3835
?/? c.1257C>T r.(=) p.(=) g.55033568C>T Copied from the Exome Variant Server APEX2_000059 2/10563 2/6728 0/3835
?/? c.1278T>C r.(=) p.(=) g.55033589T>C Copied from the Exome Variant Server APEX2_000060 60/10563 58/6728 2/3835
?/? c.1308G>A r.(=) p.(=) g.55033619G>A Copied from the Exome Variant Server APEX2_000061 2/10563 2/6728 0/3835
?/? c.1354C>T r.(?) p.(Arg452Trp) g.55033665C>T Copied from the Exome Variant Server APEX2_000062 5/10563 4/6728 1/3835
?/? c.1394G>A r.(?) p.(Arg465His) g.55033705G>A Copied from the Exome Variant Server APEX2_000063 1/10563 1/6728 0/3835
?/? c.1408G>A r.(?) p.(Gly470Arg) g.55033719G>A Copied from the Exome Variant Server APEX2_000064 1/10560 1/6725 0/3835
?/? c.1428T>C r.(=) p.(=) g.55033739T>C Copied from the Exome Variant Server APEX2_000065 1/10563 0/6728 1/3835
?/? c.1471C>T r.(?) p.(Arg491Cys) g.55033782C>T Copied from the Exome Variant Server APEX2_000051 1/10556 1/6723 0/3833
?/? c.1497G>A r.(=) p.(=) g.55033808G>A Copied from the Exome Variant Server APEX2_000053 1/10536 1/6707 0/3829
?/? c.1504C>G r.(?) p.(Pro502Ala) g.55033815C>G Copied from the Exome Variant Server APEX2_000055 1/10536 0/6707 1/3829
?/? c.1548G>A r.(=) p.(=) g.55033859G>A Copied from the Exome Variant Server APEX2_000057 1/10483 1/6672 0/3811
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