Unique variants in gene TUBD1

Information The variants shown are described using the NM_016261.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-39-4A>G r.(=) p.(=) g.57968406T>C Copied from the Exome Variant Server TUBD1_000058 11/13006 9/8600 2/4406
1 c.-36del r.(=) p.(=) g.57968399del Copied from the Exome Variant Server TUBD1_000057 830/12516 705/8254 125/4262
1 c.9T>C r.(=) p.(=) g.57968355A>G Copied from the Exome Variant Server TUBD1_000056 12/13006 11/8600 1/4406
1 c.10G>A r.(?) p.(Val4Ile) g.57968354C>T Copied from the Exome Variant Server TUBD1_000055 5/13006 0/8600 5/4406
1 c.21A>G r.(=) p.(=) g.57968343T>C Copied from the Exome Variant Server TUBD1_000054 1/13006 1/8600 0/4406
1 c.129A>G r.(=) p.(=) g.57968235T>C Copied from the Exome Variant Server TUBD1_000053 25/13006 0/8600 25/4406
1 c.136T>C r.(?) p.(Cys46Arg) g.57968228A>G Copied from the Exome Variant Server TUBD1_000052 2/13006 2/8600 0/4406
1 c.156T>C r.(=) p.(=) g.57968208A>G Copied from the Exome Variant Server TUBD1_000051 354/13006 4/8600 350/4406
1 c.172+5G>A r.spl? p.? g.57968187C>T Copied from the Exome Variant Server TUBD1_000050 4/13006 4/8600 0/4406
1 c.172+15C>T r.(=) p.(=) g.57968177G>A Copied from the Exome Variant Server TUBD1_000049 1/13006 0/8600 1/4406
1 c.173-42C>A r.(=) p.(=) g.57963633G>T Copied from the Exome Variant Server TUBD1_000048 1/13002 1/8600 0/4402
1 c.173-21T>C r.(=) p.(=) g.57963612A>G Copied from the Exome Variant Server TUBD1_000047 7/13004 0/8600 7/4404
1 c.173-5T>C r.spl? p.? g.57963596A>G Copied from the Exome Variant Server TUBD1_000046 1/13006 1/8600 0/4406
1 c.178A>G r.(?) p.(Ile60Val) g.57963586T>C Copied from the Exome Variant Server TUBD1_000045 1/13006 1/8600 0/4406
1 c.187G>A r.(?) p.(Ala63Thr) g.57963577C>T Copied from the Exome Variant Server TUBD1_000044 1/13006 1/8600 0/4406
1 c.202A>C r.(?) p.(Met68Leu) g.57963562T>G Copied from the Exome Variant Server TUBD1_000043 1/13006 1/8600 0/4406
1 c.227T>C r.(?) p.(Met76Thr) g.57963537A>G Copied from the Exome Variant Server TUBD1_000042 5874/13006 3751/8600 2123/4406
1 c.238G>C r.(?) p.(Ala80Pro) g.57963526C>G Copied from the Exome Variant Server TUBD1_000041 2/13006 1/8600 1/4406
1 c.415A>G r.(?) p.(Ile139Val) g.57958377T>C Copied from the Exome Variant Server TUBD1_000040 20/13006 16/8600 4/4406
1 c.417A>G r.(?) p.(Ile139Met) g.57958375T>C Copied from the Exome Variant Server TUBD1_000039 1/13006 1/8600 0/4406
1 c.460G>A r.(?) p.(Val154Ile) g.57958332C>T Copied from the Exome Variant Server TUBD1_000038 1/13006 1/8600 0/4406
1 c.495A>G r.(=) p.(=) g.57958297T>C Copied from the Exome Variant Server TUBD1_000037 1/13006 1/8600 0/4406
1 c.496T>C r.(=) p.(=) g.57958296A>G Copied from the Exome Variant Server TUBD1_000036 1/13006 1/8600 0/4406
1 c.529A>T r.(?) p.(Thr177Ser) g.57958263T>A Copied from the Exome Variant Server TUBD1_000035 1/13006 0/8600 1/4406
1 c.538-45A>G r.(=) p.(=) g.57955740T>C Copied from the Exome Variant Server TUBD1_000034 49/12996 2/8600 47/4396
1 c.538-8C>T r.(=) p.(=) g.57955703G>A Copied from the Exome Variant Server TUBD1_000033 1/13006 1/8600 0/4406
1 c.603C>T r.(=) p.(=) g.57955630G>A Copied from the Exome Variant Server TUBD1_000032 1/13006 1/8600 0/4406
1 c.648G>C r.(=) p.(=) g.57955585C>G Copied from the Exome Variant Server TUBD1_000031 1/13006 1/8600 0/4406
1 c.693C>T r.(=) p.(=) g.57955540G>A Copied from the Exome Variant Server TUBD1_000030 3/13006 0/8600 3/4406
1 c.694G>A r.(?) p.(Ala232Thr) g.57955539C>T Copied from the Exome Variant Server TUBD1_000029 1/13006 1/8600 0/4406
1 c.712G>C r.(?) p.(Val238Leu) g.57955521C>G Copied from the Exome Variant Server TUBD1_000028 1/13006 0/8600 1/4406
1 c.733G>A r.(?) p.(Ala245Thr) g.57955500C>T Copied from the Exome Variant Server TUBD1_000027 1/13006 0/8600 1/4406
1 c.744A>C r.(=) p.(=) g.57955489T>G Copied from the Exome Variant Server TUBD1_000026 6/13006 0/8600 6/4406
1 c.838A>G r.(?) p.(Met280Val) g.57951996T>C Copied from the Exome Variant Server TUBD1_000025 1/13006 0/8600 1/4406
1 c.861C>T r.(=) p.(=) g.57951973G>A Copied from the Exome Variant Server TUBD1_000024 2389/13006 1594/8600 795/4406
1 c.906G>A r.(?) p.(Met302Ile) g.57951928C>T Copied from the Exome Variant Server TUBD1_000023 2/13006 0/8600 2/4406
1 c.924G>A r.(=) p.(=) g.57951910C>T Copied from the Exome Variant Server TUBD1_000022 3/13006 2/8600 1/4406
1 c.934+21A>G r.(=) p.(=) g.57951879T>C Copied from the Exome Variant Server TUBD1_000021 26/13006 0/8600 26/4406
1 c.934+31C>T r.(=) p.(=) g.57951869G>A Copied from the Exome Variant Server TUBD1_000020 1/13006 0/8600 1/4406
1 c.935-42_935-39del r.(=) p.(=) g.57944149_57944152del Copied from the Exome Variant Server TUBD1_000019 4/12400 2/8208 2/4192
1 c.935-20_935-19insA r.(=) p.(=) g.57944129_57944130insT Copied from the Exome Variant Server TUBD1_000018 2/12512 0/8252 2/4260
1 c.976C>A r.(?) p.(Pro326Thr) g.57944069G>T Copied from the Exome Variant Server TUBD1_000017 1/13006 1/8600 0/4406
1 c.1003G>C r.(?) p.(Asp335His) g.57944042C>G Copied from the Exome Variant Server TUBD1_000016 1/13006 1/8600 0/4406
1 c.1068A>T r.(=) p.(=) g.57943977T>A Copied from the Exome Variant Server TUBD1_000015 1/13006 0/8600 1/4406
1 c.1075+31C>T r.(=) p.(=) g.57943939G>A Copied from the Exome Variant Server TUBD1_000014 1/13006 1/8600 0/4406
1 c.1075+47A>G r.(=) p.(=) g.57943923T>C Copied from the Exome Variant Server TUBD1_000013 1/13006 0/8600 1/4406
1 c.1118C>T r.(?) p.(Pro373Leu) g.57941166G>A Copied from the Exome Variant Server TUBD1_000012 11/13006 10/8600 1/4406
1 c.1137G>T r.(=) p.(=) g.57941147C>A Copied from the Exome Variant Server TUBD1_000011 1/13006 1/8600 0/4406
1 c.1151G>C r.(?) p.(Arg384Pro) g.57941133C>G Copied from the Exome Variant Server TUBD1_000010 1/13006 1/8600 0/4406
1 c.1166A>T r.(?) p.(Tyr389Phe) g.57941118T>A Copied from the Exome Variant Server TUBD1_000009 1/13006 1/8600 0/4406
1 c.1212A>G r.(=) p.(=) g.57941072T>C Copied from the Exome Variant Server TUBD1_000008 6/13006 0/8600 6/4406
1 c.1236G>A r.(=) p.(=) g.57941048C>T Copied from the Exome Variant Server TUBD1_000007 2/13006 1/8600 1/4406
1 c.1259+8T>A r.(=) p.(=) g.57941017A>T Copied from the Exome Variant Server TUBD1_000006 19/13006 0/8600 19/4406
1 c.1259+35T>C r.(=) p.(=) g.57940990A>G Copied from the Exome Variant Server TUBD1_000005 3/12992 0/8594 3/4398
1 c.1260-20T>G r.(=) p.(=) g.57937805A>C Copied from the Exome Variant Server TUBD1_000004 22/13004 0/8600 22/4404
1 c.1293C>T r.(=) p.(=) g.57937752G>A Copied from the Exome Variant Server TUBD1_000003 1/13006 1/8600 0/4406
1 c.1323G>A r.(=) p.(=) g.57937722C>T Copied from the Exome Variant Server TUBD1_000002 1/13006 0/8600 1/4406
1 c.1331A>G r.(?) p.(Glu444Gly) g.57937714T>C Copied from the Exome Variant Server TUBD1_000001 1/13006 0/8600 1/4406
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