All transcript variants in gene SLC25A53

Information The variants shown are described using the NM_001012755.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31-9878A>G r.(=) p.(=) g.103359849T>C Copied from the Exome Variant Server SLC25A53_000044 313/3600 4/2391 309/1209
?/? c.-31-9703G>A r.(?) p.(Pro291Leu) g.103359674C>T Copied from the Exome Variant Server SLC25A53_000043 7/3600 0/2391 7/1209
?/? c.-31-9568A>G r.(?) p.(Val246Ala) g.103359539T>C Copied from the Exome Variant Server SLC25A53_000042 2/3600 0/2391 2/1209
?/? c.-31-9536A>G r.(=) p.(=) g.103359507T>C Copied from the Exome Variant Server SLC25A53_000041 2/3600 2/2391 0/1209
?/? c.-31-9453del r.(?) p.(Asn208Ilefs*5) g.103359424del Copied from the Exome Variant Server SLC25A53_000040 12/10035 3/6405 9/3630
?/? c.-31-9379T>G r.(?) p.(Glu183Ala) g.103359350A>C Copied from the Exome Variant Server SLC25A53_000039 1/3600 0/2391 1/1209
?/? c.-31-9370A>G r.(?) p.(Leu180Ser) g.103359341T>C Copied from the Exome Variant Server SLC25A53_000038 1/3600 1/2391 0/1209
?/? c.-31-9363G>A r.(?) p.(Leu178Phe) g.103359334C>T Copied from the Exome Variant Server SLC25A53_000037 165/3600 1/2391 164/1209
?/? c.-31-9318C>T r.(?) p.(Gly163Ser) g.103359289G>A Copied from the Exome Variant Server SLC25A53_000036 2/3600 0/2391 2/1209
?/? c.-31-9159C>T r.(?) p.(Val110Ile) g.103359130G>A Copied from the Exome Variant Server SLC25A53_000035 1/3600 0/2391 1/1209
?/? c.-31-3C>T r.(=) p.(=) g.103349974G>A Copied from the Exome Variant Server SLC25A53_000034 1/10437 1/6672 0/3765
?/? c.-22T>C r.(=) p.(=) g.103349962A>G Copied from the Exome Variant Server SLC25A53_000033 20/10498 4/6689 16/3809
?/? c.25G>A r.(?) p.(Gly9Arg) g.103349916C>T Copied from the Exome Variant Server SLC25A53_000032 8/10562 5/6727 3/3835
?/? c.41A>G r.(?) p.(His14Arg) g.103349900T>C Copied from the Exome Variant Server SLC25A53_000031 3/10563 2/6728 1/3835
?/? c.47C>T r.(?) p.(Thr16Met) g.103349894G>A Copied from the Exome Variant Server SLC25A53_000030 1/10561 0/6728 1/3833
?/? c.50G>A r.(?) p.(Arg17Gln) g.103349891C>T Copied from the Exome Variant Server SLC25A53_000029 36/10561 0/6728 36/3833
?/? c.53C>T r.(?) p.(Ala18Val) g.103349888G>A Copied from the Exome Variant Server SLC25A53_000028 1/10562 1/6728 0/3834
?/? c.81T>C r.(=) p.(=) g.103349860A>G Copied from the Exome Variant Server SLC25A53_000027 3/10562 0/6728 3/3834
?/? c.105C>T r.(=) p.(=) g.103349836G>A Copied from the Exome Variant Server SLC25A53_000026 1/10563 0/6728 1/3835
?/? c.116T>C r.(?) p.(Phe39Ser) g.103349825A>G Copied from the Exome Variant Server SLC25A53_000025 2/10563 0/6728 2/3835
?/? c.266C>T r.(?) p.(Thr89Met) g.103349675G>A Copied from the Exome Variant Server SLC25A53_000024 1/10563 0/6728 1/3835
?/? c.301A>G r.(?) p.(Ser101Gly) g.103349640T>C Copied from the Exome Variant Server SLC25A53_000023 29/10563 1/6728 28/3835
?/? c.336C>T r.(=) p.(=) g.103349605G>A Copied from the Exome Variant Server SLC25A53_000022 1/10563 1/6728 0/3835
?/? c.360C>A r.(=) p.(=) g.103349581G>T Copied from the Exome Variant Server SLC25A53_000021 276/10563 3/6728 273/3835
?/? c.376G>A r.(?) p.(Val126Met) g.103349565C>T Copied from the Exome Variant Server SLC25A53_000020 1/10563 1/6728 0/3835
?/? c.379G>A r.(?) p.(Val127Met) g.103349562C>T Copied from the Exome Variant Server SLC25A53_000019 1/10562 0/6727 1/3835
?/? c.436C>T r.(?) p.(Arg146Cys) g.103349505G>A Copied from the Exome Variant Server SLC25A53_000018 1/10563 1/6728 0/3835
?/? c.449G>A r.(?) p.(Arg150His) g.103349492C>T Copied from the Exome Variant Server SLC25A53_000017 1/10563 0/6728 1/3835
?/? c.506G>A r.(?) p.(Arg169Gln) g.103349435C>T Copied from the Exome Variant Server SLC25A53_000016 1/10563 1/6728 0/3835
?/? c.591C>T r.(=) p.(=) g.103349350G>A Copied from the Exome Variant Server SLC25A53_000015 1/10563 1/6728 0/3835
?/? c.597C>G r.(?) p.(Ile199Met) g.103349344G>C Copied from the Exome Variant Server SLC25A53_000014 16/10563 16/6728 0/3835
?/? c.615G>A r.(=) p.(=) g.103349326C>T Copied from the Exome Variant Server SLC25A53_000013 11/10562 0/6728 11/3834
?/? c.672C>T r.(=) p.(=) g.103349269G>A Copied from the Exome Variant Server SLC25A53_000012 1/10563 1/6728 0/3835
?/? c.682G>A r.(?) p.(Val228Ile) g.103349259C>T Copied from the Exome Variant Server SLC25A53_000011 1/10563 1/6728 0/3835
?/? c.703C>T r.(=) p.(=) g.103349238G>A Copied from the Exome Variant Server SLC25A53_000010 1/10563 0/6728 1/3835
?/? c.758C>T r.(?) p.(Ala253Val) g.103349183G>A Copied from the Exome Variant Server SLC25A53_000009 1/10563 0/6728 1/3835
?/? c.778A>G r.(?) p.(Asn260Asp) g.103349163T>C Copied from the Exome Variant Server SLC25A53_000008 1/10563 1/6728 0/3835
?/? c.785G>A r.(?) p.(Arg262Gln) g.103349156C>T Copied from the Exome Variant Server SLC25A53_000007 2/10563 2/6728 0/3835
?/? c.812G>A r.(?) p.(Arg271His) g.103349129C>T Copied from the Exome Variant Server SLC25A53_000006 4/10563 2/6728 2/3835
?/? c.894G>A r.(=) p.(=) g.103349047C>T Copied from the Exome Variant Server SLC25A53_000005 4/10563 1/6728 3/3835
?/? c.896A>T r.(?) p.(His299Leu) g.103349045T>A Copied from the Exome Variant Server SLC25A53_000004 1/10563 0/6728 1/3835
?/? c.907G>A r.(?) p.(Glu303Lys) g.103349034C>T Copied from the Exome Variant Server SLC25A53_000003 1/10563 0/6728 1/3835
?/? c.*22A>G r.(=) p.(=) g.103348995T>C Copied from the Exome Variant Server SLC25A53_000002 12/10559 0/6725 12/3834
?/? c.*36A>G r.(=) p.(=) g.103348981T>C Copied from the Exome Variant Server SLC25A53_000001 1/10545 0/6719 1/3826
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