Full data view for gene SLC25A30

Information The variants shown are described using the NM_001010875.2 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.-55-6G>A r.(=) p.(=) g.45985621C>T Copied from the Exome Variant Server SLC25A30_000069 7/4566 0/3182 7/1384 - - - - - - -
?/? c.-48A>T r.(=) p.(=) g.45985608T>A Copied from the Exome Variant Server SLC25A30_000068 2215/13006 1233/8600 982/4406 - - - - - - -
?/? c.-23A>C r.(=) p.(=) g.45985583T>G Copied from the Exome Variant Server SLC25A30_000067 1320/13006 1025/8600 295/4406 - - - - - - -
?/? c.33C>T r.(=) p.(=) g.45985528G>A Copied from the Exome Variant Server SLC25A30_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.38G>A r.(?) p.(Gly13Glu) g.45985523C>T Copied from the Exome Variant Server SLC25A30_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.45985498G>A Copied from the Exome Variant Server SLC25A30_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.64G>A r.(?) p.(Gly22Ser) g.45985497C>T Copied from the Exome Variant Server SLC25A30_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.64+27G>A r.(=) p.(=) g.45985470C>T Copied from the Exome Variant Server SLC25A30_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.64+41G>A r.(=) p.(=) g.45985456C>T Copied from the Exome Variant Server SLC25A30_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64+43G>A r.(=) p.(=) g.45985454C>T Copied from the Exome Variant Server SLC25A30_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.65-35_65-33del r.(=) p.(=) g.45983242_45983244del Copied from the Exome Variant Server SLC25A30_000059 2/12504 1/8246 1/4258 - - - - - - -
?/? c.81T>C r.(=) p.(=) g.45983193A>G Copied from the Exome Variant Server SLC25A30_000058 2/13006 2/8600 0/4406 - - - - - - -
?/? c.82T>G r.(?) p.(Leu28Val) g.45983192A>C Copied from the Exome Variant Server SLC25A30_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.94C>T r.(?) p.(Arg32Trp) g.45983180G>A Copied from the Exome Variant Server SLC25A30_000056 3/13006 3/8600 0/4406 - - - - - - -
?/? c.116C>T r.(?) p.(Thr39Met) g.45983158G>A Copied from the Exome Variant Server SLC25A30_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.117G>A r.(=) p.(=) g.45983157C>T Copied from the Exome Variant Server SLC25A30_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.125C>T r.(?) p.(Ala42Val) g.45983149G>A Copied from the Exome Variant Server SLC25A30_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135G>A r.(=) p.(=) g.45983139C>T Copied from the Exome Variant Server SLC25A30_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.149G>A r.(?) p.(Arg50Gln) g.45983125C>T Copied from the Exome Variant Server SLC25A30_000051 3/13006 2/8600 1/4406 - - - - - - -
?/? c.176T>C r.(?) p.(Ile59Thr) g.45983098A>G Copied from the Exome Variant Server SLC25A30_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.188A>G r.(?) p.(Glu63Gly) g.45983086T>C Copied from the Exome Variant Server SLC25A30_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.210G>A r.(=) p.(=) g.45983064C>T Copied from the Exome Variant Server SLC25A30_000048 3/13006 0/8600 3/4406 - - - - - - -
?/? c.212+35T>A r.(=) p.(=) g.45983027A>T Copied from the Exome Variant Server SLC25A30_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213-53G>T r.(=) p.(=) g.45980165C>A Copied from the Exome Variant Server SLC25A30_000046 1/4566 0/3182 1/1384 - - - - - - -
?/? c.213-30C>T r.(=) p.(=) g.45980142G>A Copied from the Exome Variant Server SLC25A30_000045 93/13006 86/8600 7/4406 - - - - - - -
?/? c.213-14C>T r.(=) p.(=) g.45980126G>A Copied from the Exome Variant Server SLC25A30_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213-9G>C r.(=) p.(=) g.45980121C>G Copied from the Exome Variant Server SLC25A30_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.223G>A r.(?) p.(Ala75Thr) g.45980102C>T Copied from the Exome Variant Server SLC25A30_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.307+5G>T r.spl? p.? g.45980013C>A Copied from the Exome Variant Server SLC25A30_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.308-50C>T r.(=) p.(=) g.45978597G>A Copied from the Exome Variant Server SLC25A30_000040 4/13006 3/8600 1/4406 - - - - - - -
?/? c.308-32T>G r.(=) p.(=) g.45978579A>C Copied from the Exome Variant Server SLC25A30_000039 8/13006 0/8600 8/4406 - - - - - - -
?/? c.327T>C r.(=) p.(=) g.45978528A>G Copied from the Exome Variant Server SLC25A30_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.357A>G r.(?) p.(Ile119Met) g.45978498T>C Copied from the Exome Variant Server SLC25A30_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.393+21C>T r.(=) p.(=) g.45978441G>A Copied from the Exome Variant Server SLC25A30_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.393+47A>T r.(=) p.(=) g.45978415T>A Copied from the Exome Variant Server SLC25A30_000035 71/13006 0/8600 71/4406 - - - - - - -
?/? c.394-31_394-28del r.(=) p.(=) g.45976533_45976536del Copied from the Exome Variant Server SLC25A30_000034 1/12518 0/8254 1/4264 - - - - - - -
?/? c.398G>A r.(?) p.(Arg133Gln) g.45976501C>T Copied from the Exome Variant Server SLC25A30_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.399G>T r.(=) p.(=) g.45976500C>A Copied from the Exome Variant Server SLC25A30_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.437T>C r.(?) p.(Ile146Thr) g.45976462A>G Copied from the Exome Variant Server SLC25A30_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.455T>C r.(?) p.(Ile152Thr) g.45976444A>G Copied from the Exome Variant Server SLC25A30_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.489+21G>A r.(=) p.(=) g.45976389C>T Copied from the Exome Variant Server SLC25A30_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.490-42A>G r.(=) p.(=) g.45975384T>C Copied from the Exome Variant Server SLC25A30_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.490-41G>A r.(=) p.(=) g.45975383C>T Copied from the Exome Variant Server SLC25A30_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.490-35T>A r.(=) p.(=) g.45975377A>T Copied from the Exome Variant Server SLC25A30_000026 4/13006 3/8600 1/4406 - - - - - - -
?/? c.504T>C r.(=) p.(=) g.45975328A>G Copied from the Exome Variant Server SLC25A30_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543G>A r.(=) p.(=) g.45975289C>T Copied from the Exome Variant Server SLC25A30_000024 2/13006 2/8600 0/4406 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.45975250G>A Copied from the Exome Variant Server SLC25A30_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.591A>C r.(=) p.(=) g.45975241T>G Copied from the Exome Variant Server SLC25A30_000021 173/13006 159/8600 14/4406 - - - - - - -
?/? c.614+4T>C r.spl? p.? g.45975214A>G Copied from the Exome Variant Server SLC25A30_000022 3/13006 2/8600 1/4406 - - - - - - -
?/? c.679C>T r.(?) p.(Arg227Cys) g.45973149G>A Copied from the Exome Variant Server SLC25A30_000020 10/13006 0/8600 10/4406 - - - - - - -
?/? c.680G>A r.(?) p.(Arg227His) g.45973148C>T Copied from the Exome Variant Server SLC25A30_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.704G>A r.(?) p.(Arg235Gln) g.45973124C>T Copied from the Exome Variant Server SLC25A30_000018 4/13006 0/8600 4/4406 - - - - - - -
?/? c.744C>G r.(?) p.(Cys248Trp) g.45973084G>C Copied from the Exome Variant Server SLC25A30_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753+7G>A r.(=) p.(=) g.45973068C>T Copied from the Exome Variant Server SLC25A30_000016 31/13006 0/8600 31/4406 - - - - - - -
?/? c.753+23G>A r.(=) p.(=) g.45973052C>T Copied from the Exome Variant Server SLC25A30_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.753+49_753+50insT r.(=) p.(=) g.45973025_45973026insA Copied from the Exome Variant Server SLC25A30_000014 187/12518 5/8254 182/4264 - - - - - - -
?/? c.754-14del r.(=) p.(=) g.45971487del Copied from the Exome Variant Server SLC25A30_000013 6/12516 5/8252 1/4264 - - - - - - -
?/? c.754-10C>T r.(=) p.(=) g.45971483G>A Copied from the Exome Variant Server SLC25A30_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.785A>G r.(?) p.(Tyr262Cys) g.45971442T>C Copied from the Exome Variant Server SLC25A30_000011 56/13006 3/8600 53/4406 - - - - - - -
?/? c.834+5C>T r.spl? p.? g.45971388G>A Copied from the Exome Variant Server SLC25A30_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.834+38C>T r.(=) p.(=) g.45971355G>A Copied from the Exome Variant Server SLC25A30_000009 1/13002 0/8596 1/4406 - - - - - - -
?/? c.835-26G>T r.(=) p.(=) g.45970176C>A Copied from the Exome Variant Server SLC25A30_000008 4/13006 0/8600 4/4406 - - - - - - -
?/? c.838T>C r.(?) p.(Phe280Leu) g.45970147A>G Copied from the Exome Variant Server SLC25A30_000007 62/13006 55/8600 7/4406 - - - - - - -
?/? c.837_840del r.(?) p.(Phe279Leufs*2) g.45970145_45970148del Copied from the Exome Variant Server SLC25A30_000006 1/12518 1/8254 0/4264 - - - - - - -
?/? c.850G>A r.(?) p.(Glu284Lys) g.45970135C>T Copied from the Exome Variant Server SLC25A30_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.865T>C r.(=) p.(=) g.45970120A>G Copied from the Exome Variant Server SLC25A30_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1C>T r.(=) p.(=) g.45970108G>A Copied from the Exome Variant Server SLC25A30_000003 545/13006 495/8600 50/4406 - - - - - - -
?/? c.*19G>C r.(=) p.(=) g.45970090C>G Copied from the Exome Variant Server SLC25A30_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*52G>A r.(=) p.(=) g.45970057C>T Copied from the Exome Variant Server SLC25A30_000001 1/10300 1/7164 0/3136 - - - - - - -
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