Unique variants in gene SPDYE3

Information The variants shown are described using the NM_001004351.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-34C>G r.(=) p.(=) g.99905475C>G Copied from the Exome Variant Server SPDYE3_000001 911/5686 660/3950 251/1736
1 c.677C>T r.(?) p.(Thr226Met) g.99909505C>T Copied from the Exome Variant Server SPDYE3_000002 1/9496 1/6792 0/2704
1 c.681G>T r.(=) p.(=) g.99909509G>T Copied from the Exome Variant Server SPDYE3_000003 1/9490 1/6792 0/2698
1 c.712C>T r.(?) p.(Arg238*) g.99909540C>T Copied from the Exome Variant Server SPDYE3_000004 1/9368 1/6744 0/2624
1 c.1202-35T>C r.(=) p.(=) g.99913373T>C Copied from the Exome Variant Server SPDYE3_000005 17/12156 0/7956 17/4200
1 c.1202-8A>G r.(=) p.(=) g.99913400A>G Copied from the Exome Variant Server SPDYE3_000006 5/12116 3/7928 2/4188
1 c.1257C>G r.(?) p.(Asp419Glu) g.99913463C>G Copied from the Exome Variant Server SPDYE3_000007 1/12082 0/7904 1/4178
1 c.1260+6G>C r.(=) p.(=) g.99913472G>C Copied from the Exome Variant Server SPDYE3_000008 1/12056 0/7880 1/4176
1 c.1260+16A>T r.(=) p.(=) g.99913482A>T Copied from the Exome Variant Server SPDYE3_000009 2/12034 0/7860 2/4174
1 c.1260+42A>T r.(=) p.(=) g.99913508A>T Copied from the Exome Variant Server SPDYE3_000010 4/11910 0/7766 4/4144
1 c.1260+48del r.(=) p.(=) g.99913514del Copied from the Exome Variant Server SPDYE3_000011 8/11388 7/7410 1/3978
1 c.1299C>T r.(=) p.(=) g.99914731C>T Copied from the Exome Variant Server SPDYE3_000012 12/6622 3/4392 9/2230
1 c.1346+17C>G r.(=) p.(=) g.99914795C>G Copied from the Exome Variant Server SPDYE3_000013 3/8360 3/5358 0/3002
1 c.1347-46C>G r.(=) p.(=) g.99917142C>G Copied from the Exome Variant Server SPDYE3_000014 1/12848 0/8522 1/4326
1 c.1347-35G>A r.(=) p.(=) g.99917153G>A Copied from the Exome Variant Server SPDYE3_000015 14/12876 14/8528 0/4348
1 c.1347-18C>A r.(=) p.(=) g.99917170C>A Copied from the Exome Variant Server SPDYE3_000016 1/12932 0/8560 1/4372
1 c.1374C>T r.(=) p.(=) g.99917215C>T Copied from the Exome Variant Server SPDYE3_000017 2/13006 0/8600 2/4406
1 c.1375G>C r.(?) p.(Asp459His) g.99917216G>C Copied from the Exome Variant Server SPDYE3_000018 1/13006 1/8600 0/4406
1 c.1396A>T r.(?) p.(Ile466Phe) g.99917237A>T Copied from the Exome Variant Server SPDYE3_000019 62/13006 58/8600 4/4406
1 c.1407C>G r.(?) p.(Phe469Leu) g.99917248C>G Copied from the Exome Variant Server SPDYE3_000020 1/13006 0/8600 1/4406
1 c.1415G>A r.(?) p.(Gly472Glu) g.99917256G>A Copied from the Exome Variant Server SPDYE3_000021 1/13006 1/8600 0/4406
1 c.1475T>C r.(?) p.(Met492Thr) g.99917316T>C Copied from the Exome Variant Server SPDYE3_000022 1/13006 1/8600 0/4406
1 c.1505_1508del r.(?) p.(Ile503Profs*55) g.99917346_99917349del Copied from the Exome Variant Server SPDYE3_000023 9/12518 4/8254 5/4264
1 c.1507A>G r.(?) p.(Ile503Val) g.99917348A>G Copied from the Exome Variant Server SPDYE3_000024 1/13006 1/8600 0/4406
1 c.1515G>C r.(?) p.(Leu505Phe) g.99917356G>C Copied from the Exome Variant Server SPDYE3_000025 2/13006 1/8600 1/4406
1 c.1528C>T r.(?) p.(Arg510Trp) g.99917369C>T Copied from the Exome Variant Server SPDYE3_000026 1/13006 0/8600 1/4406
1 c.1529G>A r.(?) p.(Arg510Gln) g.99917370G>A Copied from the Exome Variant Server SPDYE3_000027 2/13006 2/8600 0/4406
1 c.1552C>T r.(?) p.(Arg518Cys) g.99917393C>T Copied from the Exome Variant Server SPDYE3_000028 1/13006 0/8600 1/4406
1 c.1553G>A r.(?) p.(Arg518His) g.99917394G>A Copied from the Exome Variant Server SPDYE3_000029 1/13004 1/8598 0/4406
1 c.1571C>A r.(?) p.(Ser524Tyr) g.99917412C>A Copied from the Exome Variant Server SPDYE3_000030 1/13004 0/8598 1/4406
1 c.1575G>A r.(=) p.(=) g.99917416G>A Copied from the Exome Variant Server SPDYE3_000031 1819/13004 1635/8598 184/4406
1 c.1590+9G>A r.(=) p.(=) g.99917440G>A Copied from the Exome Variant Server SPDYE3_000032 1/13002 0/8596 1/4406
1 c.1590+44G>A r.(=) p.(=) g.99917475G>A Copied from the Exome Variant Server SPDYE3_000033 19/12966 1/8574 18/4392
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