Unique variants in gene SOX17

Information The variants shown are described using the NM_022454.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.98C>A r.(?) p.(Ala33Asp) g.55370796C>A Copied from the Exome Variant Server SOX17_000001 44/12332 36/8162 8/4170
1 c.273A>T r.(=) p.(=) g.55370971A>T Copied from the Exome Variant Server SOX17_000002 240/12994 3/8592 237/4402
1 c.307+26_307+27insGCC r.(=) p.(=) g.55371031_55371032insGCC Copied from the Exome Variant Server SOX17_000003 3/12414 3/8202 0/4212
1 c.308-47C>T r.(=) p.(=) g.55371571C>T Copied from the Exome Variant Server SOX17_000004 2/12780 0/8468 2/4312
1 c.308-34C>T r.(=) p.(=) g.55371584C>T Copied from the Exome Variant Server SOX17_000005 3/12912 0/8542 3/4370
1 c.308-19C>A r.(=) p.(=) g.55371599C>A Copied from the Exome Variant Server SOX17_000006 37/12946 0/8564 37/4382
1 c.367C>A r.(=) p.(=) g.55371677C>A Copied from the Exome Variant Server SOX17_000007 1/12990 0/8592 1/4398
1 c.439C>A r.(=) p.(=) g.55371749C>A Copied from the Exome Variant Server SOX17_000008 1/12398 1/8206 0/4192
1 c.451G>A r.(?) p.(Val151Met) g.55371761G>A Copied from the Exome Variant Server SOX17_000009 1/12252 0/8140 1/4112
1 c.467T>C r.(?) p.(Leu156Pro) g.55371777T>C Copied from the Exome Variant Server SOX17_000010 2/12198 1/8096 1/4102
1 c.479C>T r.(?) p.(Ala160Val) g.55371789C>T Copied from the Exome Variant Server SOX17_000011 28/11862 28/7882 0/3980
1 c.585G>T r.(=) p.(=) g.55371895G>T Copied from the Exome Variant Server SOX17_000012 10/9810 0/6620 10/3190
1 c.666C>T r.(=) p.(=) g.55371976C>T Copied from the Exome Variant Server SOX17_000013 2/10348 0/7004 2/3344
1 c.949_954del r.(?) p.(Gln324_His325del) g.55372259_55372264del Copied from the Exome Variant Server SOX17_000014 43/10758 30/7132 13/3626
1 c.949_954dup r.(?) p.(Gln324_His325dup) g.55372259_55372264dup Copied from the Exome Variant Server SOX17_000015 99/10758 74/7132 25/3626
1 c.992G>T r.(?) p.(Gly331Val) g.55372302G>T Copied from the Exome Variant Server SOX17_000016 1/12744 1/8452 0/4292
1 c.1053C>A r.(=) p.(=) g.55372363C>A Copied from the Exome Variant Server SOX17_000017 16/13002 0/8600 16/4402
1 c.1056C>G r.(=) p.(=) g.55372366C>G Copied from the Exome Variant Server SOX17_000018 1/13002 0/8600 1/4402
1 c.1077C>G r.(?) p.(Asp359Glu) g.55372387C>G Copied from the Exome Variant Server SOX17_000019 21/13004 0/8600 21/4404
1 c.1142G>C r.(?) p.(Gly381Ala) g.55372452G>C Copied from the Exome Variant Server SOX17_000020 1/13006 0/8600 1/4406
1 c.1163T>G r.(?) p.(Leu388Arg) g.55372473T>G Copied from the Exome Variant Server SOX17_000021 1/13006 1/8600 0/4406
1 c.1178G>A r.(?) p.(Gly393Glu) g.55372488G>A Copied from the Exome Variant Server SOX17_000022 1/13006 1/8600 0/4406
1 c.1203C>T r.(=) p.(=) g.55372513C>T Copied from the Exome Variant Server SOX17_000023 1/13006 1/8600 0/4406
1 c.1206C>G r.(=) p.(=) g.55372516C>G Copied from the Exome Variant Server SOX17_000024 43/13006 1/8600 42/4406
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