Full data view for gene NUP107

Information The variants shown are described using the NM_020401.2 transcript reference sequence.

193 entries on 2 pages. Showing entries 1 - 100.
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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.-93G>A r.(=) p.(=) g.69080753G>A Copied from the Exome Variant Server NUP107_000006 2/4566 2/3182 0/1384 - - - - - - -
?/? c.-44T>C r.(=) p.(=) g.69080802T>C Copied from the Exome Variant Server NUP107_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-29T>C r.(=) p.(=) g.69080817T>C Copied from the Exome Variant Server NUP107_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-21T>C r.(=) p.(=) g.69080825T>C Copied from the Exome Variant Server NUP107_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.9-43A>G r.(=) p.(=) g.69082699A>G Copied from the Exome Variant Server NUP107_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.9-38C>G r.(=) p.(=) g.69082704C>G Copied from the Exome Variant Server NUP107_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.61C>T r.(?) p.(Arg21Trp) g.69082794C>T Copied from the Exome Variant Server NUP107_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64A>G r.(?) p.(Thr22Ala) g.69082797A>G Copied from the Exome Variant Server NUP107_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.72G>A r.(=) p.(=) g.69082805G>A Copied from the Exome Variant Server NUP107_000022 2726/13006 2322/8600 404/4406 - - - - - - -
?/? c.80G>A r.(?) p.(Ser27Asn) g.69082813G>A Copied from the Exome Variant Server NUP107_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.91A>G r.(?) p.(Arg31Gly) g.69082824A>G Copied from the Exome Variant Server NUP107_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.100+24A>G r.(=) p.(=) g.69082857A>G Copied from the Exome Variant Server NUP107_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.101-12C>G r.(=) p.(=) g.69083301C>G Copied from the Exome Variant Server NUP107_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.101-10C>T r.(=) p.(=) g.69083303C>T Copied from the Exome Variant Server NUP107_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141A>G r.(=) p.(=) g.69083353A>G Copied from the Exome Variant Server NUP107_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.161G>A r.(?) p.(Arg54Gln) g.69083373G>A Copied from the Exome Variant Server NUP107_000005 14/13006 13/8600 1/4406 - - - - - - -
?/? c.187+19A>T r.(=) p.(=) g.69083418A>T Copied from the Exome Variant Server NUP107_000007 7/13006 7/8600 0/4406 - - - - - - -
?/? c.187+36C>T r.(=) p.(=) g.69083435C>T Copied from the Exome Variant Server NUP107_000009 4/13004 3/8598 1/4406 - - - - - - -
?/? c.188-37G>A r.(=) p.(=) g.69084374G>A Copied from the Exome Variant Server NUP107_000011 3/13006 3/8600 0/4406 - - - - - - -
?/? c.188-19A>G r.(=) p.(=) g.69084392A>G Copied from the Exome Variant Server NUP107_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.188-13C>A r.(=) p.(=) g.69084398C>A Copied from the Exome Variant Server NUP107_000015 4/13006 0/8600 4/4406 - - - - - - -
?/? c.257C>T r.(?) p.(Ser86Leu) g.69084480C>T Copied from the Exome Variant Server NUP107_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263G>A r.(?) p.(Arg88Gln) g.69084486G>A Copied from the Exome Variant Server NUP107_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.270G>A r.(=) p.(=) g.69084493G>A Copied from the Exome Variant Server NUP107_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.303+1_303+2insTA r.spl? p.? g.69084527_69084528insTA Copied from the Exome Variant Server NUP107_000024 6/12518 6/8254 0/4264 - - - - - - -
?/? c.303+15A>G r.(=) p.(=) g.69084541A>G Copied from the Exome Variant Server NUP107_000026 3111/13006 2652/8600 459/4406 - - - - - - -
?/? c.304-50C>T r.(=) p.(=) g.69085698C>T Copied from the Exome Variant Server NUP107_000027 5/12976 5/8584 0/4392 - - - - - - -
?/? c.304-12del r.(=) p.(=) g.69085736del Copied from the Exome Variant Server NUP107_000028 55/12514 35/8254 20/4260 - - - - - - -
?/? c.313C>T r.(=) p.(=) g.69085757C>T Copied from the Exome Variant Server NUP107_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.353G>A r.(?) p.(Arg118His) g.69085797G>A Copied from the Exome Variant Server NUP107_000030 37/13006 30/8600 7/4406 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.69085801C>T Copied from the Exome Variant Server NUP107_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.368C>G r.(?) p.(Thr123Arg) g.69085812C>G Copied from the Exome Variant Server NUP107_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.420G>C r.(?) p.(Met140Ile) g.69085864G>C Copied from the Exome Variant Server NUP107_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.424C>T r.(?) p.(Arg142Cys) g.69085868C>T Copied from the Exome Variant Server NUP107_000034 12/13006 1/8600 11/4406 - - - - - - -
?/? c.426T>C r.(=) p.(=) g.69085870T>C Copied from the Exome Variant Server NUP107_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.448+20T>C r.(=) p.(=) g.69085912T>C Copied from the Exome Variant Server NUP107_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.448+23G>T r.(=) p.(=) g.69085915G>T Copied from the Exome Variant Server NUP107_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.448+34T>A r.(=) p.(=) g.69085926T>A Copied from the Exome Variant Server NUP107_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.448+49A>T r.(=) p.(=) g.69085941A>T Copied from the Exome Variant Server NUP107_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.448+52A>G r.(=) p.(=) g.69085944A>G Copied from the Exome Variant Server NUP107_000043 1/7272 1/4618 0/2654 - - - - - - -
?/? c.449-25_449-24del r.(=) p.(=) g.69090574_69090575del Copied from the Exome Variant Server NUP107_000045 60/12512 31/8250 29/4262 - - - - - - -
?/? c.449-25_449-24dup r.(=) p.(=) g.69090574_69090575dup Copied from the Exome Variant Server NUP107_000047 485/12512 438/8250 47/4262 - - - - - - -
?/? c.449-24del r.(=) p.(=) g.69090575del Copied from the Exome Variant Server NUP107_000050 1555/12512 581/8250 974/4262 - - - - - - -
?/? c.449-24dup r.(=) p.(=) g.69090575dup Copied from the Exome Variant Server NUP107_000049 4442/12512 3562/8250 880/4262 - - - - - - -
?/? c.449-7G>C r.(=) p.(=) g.69090592G>C Copied from the Exome Variant Server NUP107_000052 3/13006 0/8600 3/4406 - - - - - - -
?/? c.479A>G r.(?) p.(Gln160Arg) g.69090629A>G Copied from the Exome Variant Server NUP107_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486T>C r.(=) p.(=) g.69090636T>C Copied from the Exome Variant Server NUP107_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.496T>C r.(?) p.(Ser166Pro) g.69090646T>C Copied from the Exome Variant Server NUP107_000058 9/13006 0/8600 9/4406 - - - - - - -
?/? c.501G>A r.(=) p.(=) g.69090651G>A Copied from the Exome Variant Server NUP107_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.503G>A r.(?) p.(Ser168Asn) g.69090653G>A Copied from the Exome Variant Server NUP107_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.504T>C r.(=) p.(=) g.69090654T>C Copied from the Exome Variant Server NUP107_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.519T>C r.(=) p.(=) g.69090669T>C Copied from the Exome Variant Server NUP107_000066 27/13006 0/8600 27/4406 - - - - - - -
?/? c.534A>G r.(=) p.(=) g.69090684A>G Copied from the Exome Variant Server NUP107_000068 372/13006 194/8600 178/4406 - - - - - - -
?/? c.552+21C>T r.(=) p.(=) g.69090723C>T Copied from the Exome Variant Server NUP107_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.552+22G>A r.(=) p.(=) g.69090724G>A Copied from the Exome Variant Server NUP107_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.552+52A>G r.(=) p.(=) g.69090754A>G Copied from the Exome Variant Server NUP107_000074 1515/7272 1251/4618 264/2654 - - - - - - -
?/? c.553-40G>A r.(=) p.(=) g.69094466G>A Copied from the Exome Variant Server NUP107_000076 1/13002 0/8598 1/4404 - - - - - - -
?/? c.553-27C>T r.(=) p.(=) g.69094479C>T Copied from the Exome Variant Server NUP107_000078 33/13002 0/8600 33/4402 - - - - - - -
?/? c.553-19A>G r.(=) p.(=) g.69094487A>G Copied from the Exome Variant Server NUP107_000080 1/13002 1/8598 0/4404 - - - - - - -
?/? c.553-13_553-12insT r.(=) p.(=) g.69094493_69094494insT Copied from the Exome Variant Server NUP107_000083 1/12518 1/8254 0/4264 - - - - - - -
?/? c.566G>A r.(?) p.(Ser189Asn) g.69094519G>A Copied from the Exome Variant Server NUP107_000084 5/13006 5/8600 0/4406 - - - - - - -
?/? c.654A>G r.(=) p.(=) g.69094607A>G Copied from the Exome Variant Server NUP107_000038 143/13006 132/8600 11/4406 - - - - - - -
?/? c.681-63A>T r.(=) p.(=) g.69096453A>T Copied from the Exome Variant Server NUP107_000040 1/4566 1/3182 0/1384 - - - - - - -
?/? c.681-30G>T r.(=) p.(=) g.69096486G>T Copied from the Exome Variant Server NUP107_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.681-12A>G r.(=) p.(=) g.69096504A>G Copied from the Exome Variant Server NUP107_000044 56/13006 1/8600 55/4406 - - - - - - -
?/? c.681-12_681-11insT r.(=) p.(=) g.69096504_69096505insT Copied from the Exome Variant Server NUP107_000046 3/12518 3/8254 0/4264 - - - - - - -
?/? c.689T>A r.(?) p.(Ile230Lys) g.69096524T>A Copied from the Exome Variant Server NUP107_000048 1/13004 0/8598 1/4406 - - - - - - -
?/? c.729+63_729+64del r.(=) p.(=) g.69096627_69096628del Copied from the Exome Variant Server NUP107_000051 131/10310 88/7012 43/3298 - - - - - - -
?/? c.729+64del r.(=) p.(=) g.69096628del Copied from the Exome Variant Server NUP107_000054 1458/10310 961/7012 497/3298 - - - - - - -
?/? c.729+64dup r.(=) p.(=) g.69096628dup Copied from the Exome Variant Server NUP107_000053 1732/10310 1254/7012 478/3298 - - - - - - -
?/? c.730-15T>A r.(=) p.(=) g.69103003T>A Copied from the Exome Variant Server NUP107_000056 3/12996 0/8590 3/4406 - - - - - - -
?/? c.751A>T r.(?) p.(Thr251Ser) g.69103039A>T Copied from the Exome Variant Server NUP107_000059 17/12996 16/8590 1/4406 - - - - - - -
?/? c.755T>C r.(?) p.(Val252Ala) g.69103043T>C Copied from the Exome Variant Server NUP107_000060 1/12998 1/8592 0/4406 - - - - - - -
?/? c.801+20del r.(=) p.(=) g.69103109del Copied from the Exome Variant Server NUP107_000062 52/12510 48/8248 4/4262 - - - - - - -
?/? c.801+28T>A r.(=) p.(=) g.69103117T>A Copied from the Exome Variant Server NUP107_000064 4/12998 4/8594 0/4404 - - - - - - -
?/? c.801+29_801+50del r.(=) p.(=) g.69103118_69103139del Copied from the Exome Variant Server NUP107_000067 2/12506 2/8244 0/4262 - - - - - - -
?/? c.801+65A>G r.(=) p.(=) g.69103154A>G Copied from the Exome Variant Server NUP107_000069 234/4554 1/3170 233/1384 - - - - - - -
?/? c.802-43A>G r.(=) p.(=) g.69103742A>G Copied from the Exome Variant Server NUP107_000071 1/12962 0/8564 1/4398 - - - - - - -
?/? c.802-29A>C r.(=) p.(=) g.69103756A>C Copied from the Exome Variant Server NUP107_000073 1/12984 1/8578 0/4406 - - - - - - -
?/? c.820G>A r.(?) p.(Glu274Lys) g.69103803G>A Copied from the Exome Variant Server NUP107_000075 1/13004 0/8598 1/4406 - - - - - - -
?/? c.848A>G r.(?) p.(Glu283Gly) g.69103831A>G Copied from the Exome Variant Server NUP107_000077 2/13000 2/8596 0/4404 - - - - - - -
?/? c.881C>T r.(?) p.(Ser294Leu) g.69103864C>T Copied from the Exome Variant Server NUP107_000079 1/12996 0/8596 1/4400 - - - - - - -
?/? c.885A>C r.(=) p.(=) g.69103868A>C Copied from the Exome Variant Server NUP107_000081 1/12992 0/8590 1/4402 - - - - - - -
?/? c.890+45T>C r.(=) p.(=) g.69103918T>C Copied from the Exome Variant Server NUP107_000082 15/12956 0/8564 15/4392 - - - - - - -
?/? c.891-19T>A r.(=) p.(=) g.69107491T>A Copied from the Exome Variant Server NUP107_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.894A>G r.(=) p.(=) g.69107513A>G Copied from the Exome Variant Server NUP107_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.901C>T r.(=) p.(=) g.69107520C>T Copied from the Exome Variant Server NUP107_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.920G>A r.(?) p.(Arg307Gln) g.69107539G>A Copied from the Exome Variant Server NUP107_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.929_931del r.(?) p.(Ser311del) g.69107548_69107550del Copied from the Exome Variant Server NUP107_000089 69/12518 0/8254 69/4264 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.69107555C>T Copied from the Exome Variant Server NUP107_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.937G>A r.(?) p.(Val313Ile) g.69107556G>A Copied from the Exome Variant Server NUP107_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.969+17A>G r.(=) p.(=) g.69107605A>G Copied from the Exome Variant Server NUP107_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.969+44del r.(=) p.(=) g.69107632del Copied from the Exome Variant Server NUP107_000094 206/12510 121/8254 85/4256 - - - - - - -
?/? c.969+44dup r.(=) p.(=) g.69107632dup Copied from the Exome Variant Server NUP107_000093 147/12510 89/8254 58/4256 - - - - - - -
?/? c.970-46G>A r.(=) p.(=) g.69109361G>A Copied from the Exome Variant Server NUP107_000095 6/13006 6/8600 0/4406 - - - - - - -
?/? c.997A>G r.(?) p.(Met333Val) g.69109434A>G Copied from the Exome Variant Server NUP107_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1003C>T r.(?) p.(Leu335Phe) g.69109440C>T Copied from the Exome Variant Server NUP107_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1056T>C r.(=) p.(=) g.69109493T>C Copied from the Exome Variant Server NUP107_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1057C>G r.(?) p.(Leu353Val) g.69109494C>G Copied from the Exome Variant Server NUP107_000103 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1083G>A r.(=) p.(=) g.69109520G>A Copied from the Exome Variant Server NUP107_000106 1/13006 1/8600 0/4406 - - - - - - -
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