Unique variants in gene AXDND1

Information The variants shown are described using the NM_144696.4 transcript reference sequence.

237 entries on 3 pages. Showing entries 1 - 100.
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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.-20G>C r.(=) p.(=) g.179335625G>C Copied from the Exome Variant Server AXDND1_000002 5/13006 5/8600 0/4406
1 c.-17_-15del r.(=) p.(=) g.179335628_179335630del Copied from the Exome Variant Server AXDND1_000004 26/12520 15/8254 11/4266
1 c.25A>G r.(?) p.(Thr9Ala) g.179335669A>G Copied from the Exome Variant Server AXDND1_000006 1/13006 1/8600 0/4406
1 c.41C>T r.(?) p.(Thr14Ile) g.179335685C>T Copied from the Exome Variant Server AXDND1_000008 2/13006 0/8600 2/4406
1 c.83A>G r.(?) p.(Lys28Arg) g.179335727A>G Copied from the Exome Variant Server AXDND1_000010 1/13006 1/8600 0/4406
1 c.97+14A>G r.(=) p.(=) g.179335755A>G Copied from the Exome Variant Server AXDND1_000012 144/13006 1/8600 143/4406
1 c.97+41G>A r.(=) p.(=) g.179335782G>A Copied from the Exome Variant Server AXDND1_000014 1/13006 1/8600 0/4406
1 c.98-36T>C r.(=) p.(=) g.179337899T>C Copied from the Exome Variant Server AXDND1_000016 1/12954 1/8594 0/4360
1 c.98-13A>G r.(=) p.(=) g.179337922A>G Copied from the Exome Variant Server AXDND1_000001 19/13002 0/8600 19/4402
1 c.117_118insA r.(?) p.(Asn42Lysfs*16) g.179337954_179337955insA Copied from the Exome Variant Server AXDND1_000003 19/12518 14/8254 5/4264
1 c.128T>C r.(?) p.(Met43Thr) g.179337965T>C Copied from the Exome Variant Server AXDND1_000005 2/13006 1/8600 1/4406
1 c.190C>T r.(?) p.(Leu64Phe) g.179338027C>T Copied from the Exome Variant Server AXDND1_000007 1/13006 0/8600 1/4406
1 c.198T>G r.(=) p.(=) g.179338035T>G Copied from the Exome Variant Server AXDND1_000009 4/13006 4/8600 0/4406
1 c.209C>T r.(?) p.(Ala70Val) g.179338046C>T Copied from the Exome Variant Server AXDND1_000011 53/13006 45/8600 8/4406
1 c.211G>A r.(?) p.(Ala71Thr) g.179338048G>A Copied from the Exome Variant Server AXDND1_000013 5/13006 0/8600 5/4406
1 c.215A>G r.(?) p.(Asn72Ser) g.179338052A>G Copied from the Exome Variant Server AXDND1_000015 1/13006 0/8600 1/4406
1 c.270+22G>A r.(=) p.(=) g.179338129G>A Copied from the Exome Variant Server AXDND1_000017 74/12988 2/8594 72/4394
1 c.271-26A>G r.(=) p.(=) g.179339084A>G Copied from the Exome Variant Server AXDND1_000018 38/13006 0/8600 38/4406
1 c.271-22_271-21insT r.(=) p.(=) g.179339088_179339089insT Copied from the Exome Variant Server AXDND1_000019 8/12520 6/8254 2/4266
1 c.274A>G r.(?) p.(Thr92Ala) g.179339113A>G Copied from the Exome Variant Server AXDND1_000020 2/13006 1/8600 1/4406
1 c.275_276del r.(?) p.(Leu93Serfs*16) g.179339114_179339115del Copied from the Exome Variant Server AXDND1_000021 154/12520 93/8254 61/4266
1 c.363A>G r.(=) p.(=) g.179339202A>G Copied from the Exome Variant Server AXDND1_000022 1/13006 1/8600 0/4406
1 c.370G>A r.(?) p.(Gly124Arg) g.179339209G>A Copied from the Exome Variant Server AXDND1_000023 1/13006 1/8600 0/4406
1 c.374+16A>C r.(=) p.(=) g.179339229A>C Copied from the Exome Variant Server AXDND1_000024 264/13006 8/8600 256/4406
1 c.374+49C>G r.(=) p.(=) g.179339262C>G Copied from the Exome Variant Server AXDND1_000025 1090/13002 754/8596 336/4406
1 c.375-11T>G r.(=) p.(=) g.179347761T>G Copied from the Exome Variant Server AXDND1_000026 1/13006 1/8600 0/4406
1 c.405T>C r.(=) p.(=) g.179347802T>C Copied from the Exome Variant Server AXDND1_000027 1/13006 1/8600 0/4406
1 c.432A>T r.(=) p.(=) g.179347829A>T Copied from the Exome Variant Server AXDND1_000028 1/13006 1/8600 0/4406
1 c.435T>C r.(=) p.(=) g.179347832T>C Copied from the Exome Variant Server AXDND1_000029 5404/13006 3991/8600 1413/4406
1 c.455G>A r.(?) p.(Arg152His) g.179347852G>A Copied from the Exome Variant Server AXDND1_000030 1/13006 1/8600 0/4406
1 c.495+18C>T r.(=) p.(=) g.179347910C>T Copied from the Exome Variant Server AXDND1_000031 3/13006 0/8600 3/4406
1 c.495+50A>G r.(=) p.(=) g.179347942A>G Copied from the Exome Variant Server AXDND1_000032 20/13006 0/8600 20/4406
1 c.496-44A>G r.(=) p.(=) g.179348488A>G Copied from the Exome Variant Server AXDND1_000033 2/12946 2/8568 0/4378
1 c.496-36A>G r.(=) p.(=) g.179348496A>G Copied from the Exome Variant Server AXDND1_000034 2/12996 2/8592 0/4404
1 c.502A>T r.(?) p.(Thr168Ser) g.179348538A>T Copied from the Exome Variant Server AXDND1_000035 1/13006 1/8600 0/4406
1 c.562G>T r.(?) p.(Gly188Cys) g.179348598G>T Copied from the Exome Variant Server AXDND1_000036 1/13006 0/8600 1/4406
1 c.581+8C>G r.(=) p.(=) g.179348625C>G Copied from the Exome Variant Server AXDND1_000037 265/13006 7/8600 258/4406
1 c.581+9T>C r.(=) p.(=) g.179348626T>C Copied from the Exome Variant Server AXDND1_000038 33/13006 28/8600 5/4406
1 c.581+29_581+30insG r.(=) p.(=) g.179348646_179348647insG Copied from the Exome Variant Server AXDND1_000039 3709/12520 2499/8254 1210/4266
1 c.581+39C>T r.(=) p.(=) g.179348656C>T Copied from the Exome Variant Server AXDND1_000040 61/13006 0/8600 61/4406
1 c.581+45C>T r.(=) p.(=) g.179348662C>T Copied from the Exome Variant Server AXDND1_000041 1/13006 0/8600 1/4406
1 c.582-25C>T r.(=) p.(=) g.179351810C>T Copied from the Exome Variant Server AXDND1_000042 10/12998 9/8594 1/4404
1 c.615C>T r.(=) p.(=) g.179351868C>T Copied from the Exome Variant Server AXDND1_000043 1/13006 0/8600 1/4406
1 c.632C>T r.(?) p.(Pro211Leu) g.179351885C>T Copied from the Exome Variant Server AXDND1_000044 1/13006 1/8600 0/4406
1 c.638+6T>C r.(=) p.(=) g.179351897T>C Copied from the Exome Variant Server AXDND1_000045 1/13006 0/8600 1/4406
1 c.639-47C>T r.(=) p.(=) g.179352530C>T Copied from the Exome Variant Server AXDND1_000046 4/13004 2/8600 2/4404
1 c.639-43G>A r.(=) p.(=) g.179352534G>A Copied from the Exome Variant Server AXDND1_000047 262/13004 7/8600 255/4404
1 c.639-18G>A r.(=) p.(=) g.179352559G>A Copied from the Exome Variant Server AXDND1_000048 1/13004 0/8600 1/4404
1 c.692T>C r.(?) p.(Met231Thr) g.179352630T>C Copied from the Exome Variant Server AXDND1_000049 2/13006 2/8600 0/4406
1 c.693G>A r.(?) p.(Met231Ile) g.179352631G>A Copied from the Exome Variant Server AXDND1_000051 1/13006 1/8600 0/4406
1 c.710T>A r.(?) p.(Val237Glu) g.179352648T>A Copied from the Exome Variant Server AXDND1_000053 30/13006 28/8600 2/4406
1 c.738G>A r.(=) p.(=) g.179352676G>A Copied from the Exome Variant Server AXDND1_000055 1/13006 0/8600 1/4406
1 c.741+14C>T r.(=) p.(=) g.179352693C>T Copied from the Exome Variant Server AXDND1_000057 1/13006 0/8600 1/4406
1 c.741+26G>C r.(=) p.(=) g.179352705G>C Copied from the Exome Variant Server AXDND1_000059 4/13006 0/8600 4/4406
1 c.741+27G>C r.(=) p.(=) g.179352706G>C Copied from the Exome Variant Server AXDND1_000061 1/13006 0/8600 1/4406
1 c.741+52G>A r.(=) p.(=) g.179352731G>A Copied from the Exome Variant Server AXDND1_000063 92/7272 0/4618 92/2654
1 c.742-37G>A r.(=) p.(=) g.179354336G>A Copied from the Exome Variant Server AXDND1_000065 1/13006 1/8600 0/4406
1 c.742-36T>C r.(=) p.(=) g.179354337T>C Copied from the Exome Variant Server AXDND1_000067 1/13006 0/8600 1/4406
1 c.742-24A>G r.(=) p.(=) g.179354349A>G Copied from the Exome Variant Server AXDND1_000050 1/13006 0/8600 1/4406
1 c.811C>T r.(?) p.(Arg271*) g.179354442C>T Copied from the Exome Variant Server AXDND1_000052 1/13006 0/8600 1/4406
1 c.817G>T r.(?) p.(Val273Phe) g.179354448G>T Copied from the Exome Variant Server AXDND1_000054 1/13006 0/8600 1/4406
1 c.863+1G>T r.spl? p.? g.179354495G>T Copied from the Exome Variant Server AXDND1_000056 5/13006 5/8600 0/4406
1 c.863+9T>C r.(=) p.(=) g.179354503T>C Copied from the Exome Variant Server AXDND1_000058 1/13006 0/8600 1/4406
1 c.863+22G>T r.(=) p.(=) g.179354516G>T Copied from the Exome Variant Server AXDND1_000060 47/13006 43/8600 4/4406
1 c.864-37A>G r.(=) p.(=) g.179363001A>G Copied from the Exome Variant Server AXDND1_000062 3/13004 3/8598 0/4406
1 c.932C>T r.(?) p.(Thr311Ile) g.179363106C>T Copied from the Exome Variant Server AXDND1_000064 1/13006 0/8600 1/4406
1 c.937C>T r.(?) p.(Arg313*) g.179363111C>T Copied from the Exome Variant Server AXDND1_000066 1/13006 1/8600 0/4406
1 c.938G>A r.(?) p.(Arg313Gln) g.179363112G>A Copied from the Exome Variant Server AXDND1_000068 1/13006 1/8600 0/4406
1 c.940G>C r.(?) p.(Val314Leu) g.179363114G>C Copied from the Exome Variant Server AXDND1_000069 55/13006 0/8600 55/4406
1 c.964G>T r.(?) p.(Glu322*) g.179363138G>T Copied from the Exome Variant Server AXDND1_000070 1/13006 0/8600 1/4406
1 c.969G>T r.(?) p.(Leu323Phe) g.179363143G>T Copied from the Exome Variant Server AXDND1_000071 10/13006 4/8600 6/4406
1 c.1004+37T>G r.(=) p.(=) g.179363215T>G Copied from the Exome Variant Server AXDND1_000072 1/13006 0/8600 1/4406
1 c.1004+40A>G r.(=) p.(=) g.179363218A>G Copied from the Exome Variant Server AXDND1_000073 6/13006 0/8600 6/4406
1 c.1004+44C>G r.(=) p.(=) g.179363222C>G Copied from the Exome Variant Server AXDND1_000074 1/13006 0/8600 1/4406
1 c.1021C>T r.(?) p.(Arg341Trp) g.179364249C>T Copied from the Exome Variant Server AXDND1_000075 2/13006 0/8600 2/4406
1 c.1028A>G r.(?) p.(His343Arg) g.179364256A>G Copied from the Exome Variant Server AXDND1_000076 4/13006 0/8600 4/4406
1 c.1061C>T r.(?) p.(Ala354Val) g.179364289C>T Copied from the Exome Variant Server AXDND1_000077 1/13006 0/8600 1/4406
1 c.1094C>T r.(?) p.(Ala365Val) g.179364322C>T Copied from the Exome Variant Server AXDND1_000078 2/13006 1/8600 1/4406
1 c.1109+15G>A r.(=) p.(=) g.179364352G>A Copied from the Exome Variant Server AXDND1_000079 4/13006 2/8600 2/4406
1 c.1109+33G>T r.(=) p.(=) g.179364370G>T Copied from the Exome Variant Server AXDND1_000080 7/13006 6/8600 1/4406
1 c.1109+35G>C r.(=) p.(=) g.179364372G>C Copied from the Exome Variant Server AXDND1_000081 947/13006 761/8600 186/4406
1 c.1110-22T>C r.(=) p.(=) g.179380259T>C Copied from the Exome Variant Server AXDND1_000082 1/12862 0/8552 1/4310
1 c.1126C>A r.(?) p.(His376Asn) g.179380297C>A Copied from the Exome Variant Server AXDND1_000083 1/12998 0/8592 1/4406
1 c.1193A>G r.(?) p.(Asp398Gly) g.179380364A>G Copied from the Exome Variant Server AXDND1_000084 1/13006 1/8600 0/4406
1 c.1230+13G>A r.(=) p.(=) g.179380414G>A Copied from the Exome Variant Server AXDND1_000085 47/13006 43/8600 4/4406
1 c.1230+40G>A r.(=) p.(=) g.179380441G>A Copied from the Exome Variant Server AXDND1_000086 1/13000 0/8598 1/4402
1 c.1236T>A r.(=) p.(=) g.179398658T>A Copied from the Exome Variant Server AXDND1_000087 1/12996 1/8592 0/4404
1 c.1304A>G r.(?) p.(Lys435Arg) g.179398726A>G Copied from the Exome Variant Server AXDND1_000088 18/12996 6/8590 12/4406
1 c.1308T>C r.(=) p.(=) g.179398730T>C Copied from the Exome Variant Server AXDND1_000089 10/12994 4/8588 6/4406
1 c.1333-42A>G r.(=) p.(=) g.179399545A>G Copied from the Exome Variant Server AXDND1_000090 2/12946 0/8574 2/4372
1 c.1349C>T r.(?) p.(Ala450Val) g.179399603C>T Copied from the Exome Variant Server AXDND1_000091 1/13006 0/8600 1/4406
1 c.1350A>G r.(=) p.(=) g.179399604A>G Copied from the Exome Variant Server AXDND1_000092 2/13006 0/8600 2/4406
1 c.1362G>T r.(?) p.(Lys454Asn) g.179399616G>T Copied from the Exome Variant Server AXDND1_000093 1/13006 1/8600 0/4406
1 c.1380A>G r.(=) p.(=) g.179399634A>G Copied from the Exome Variant Server AXDND1_000094 2/13006 1/8600 1/4406
1 c.1394A>G r.(?) p.(Lys465Arg) g.179399648A>G Copied from the Exome Variant Server AXDND1_000095 1/13006 1/8600 0/4406
1 c.1474C>G r.(?) p.(Gln492Glu) g.179399728C>G Copied from the Exome Variant Server AXDND1_000096 1/13006 0/8600 1/4406
1 c.1487+29A>G r.(=) p.(=) g.179399770A>G Copied from the Exome Variant Server AXDND1_000097 1/13006 1/8600 0/4406
1 c.1487+32A>G r.(=) p.(=) g.179399773A>G Copied from the Exome Variant Server AXDND1_000098 1/13006 1/8600 0/4406
1 c.1509T>C r.(=) p.(=) g.179401423T>C Copied from the Exome Variant Server AXDND1_000100 90/12974 2/8582 88/4392
1 c.1525T>A r.(?) p.(Phe509Ile) g.179401439T>A Copied from the Exome Variant Server AXDND1_000102 1/12986 1/8588 0/4398
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