Unique variants in gene NUSAP1

Information The variants shown are described using the NM_016359.4 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-49C>T r.(=) p.(=) g.41625107C>T Copied from the Exome Variant Server NUSAP1_000001 1/12018 0/8248 1/3770
1 c.-48G>C r.(=) p.(=) g.41625108G>C Copied from the Exome Variant Server NUSAP1_000002 1/12024 1/8254 0/3770
1 c.-27C>T r.(=) p.(=) g.41625129C>T Copied from the Exome Variant Server NUSAP1_000003 1/12062 0/8270 1/3792
1 c.-20C>T r.(=) p.(=) g.41625136C>T Copied from the Exome Variant Server NUSAP1_000004 2/12066 0/8264 2/3802
1 c.12C>T r.(=) p.(=) g.41625167C>T Copied from the Exome Variant Server NUSAP1_000005 40/12072 35/8258 5/3814
1 c.13T>A r.(?) p.(Ser5Thr) g.41625168T>A Copied from the Exome Variant Server NUSAP1_000006 3/12064 3/8258 0/3806
1 c.62C>T r.(?) p.(Ala21Val) g.41625217C>T Copied from the Exome Variant Server NUSAP1_000007 1/12038 1/8234 0/3804
1 c.93+31G>A r.(=) p.(=) g.41625279G>A Copied from the Exome Variant Server NUSAP1_000008 6/11928 3/8206 3/3722
1 c.94-19A>C r.(=) p.(=) g.41634565A>C Copied from the Exome Variant Server NUSAP1_000009 1/11866 1/8180 0/3686
1 c.94-17T>G r.(=) p.(=) g.41634567T>G Copied from the Exome Variant Server NUSAP1_000010 1/11862 1/8178 0/3684
1 c.97A>G r.(?) p.(Thr33Ala) g.41634587A>G Copied from the Exome Variant Server NUSAP1_000011 150/11916 59/8194 91/3722
1 c.98C>A r.(?) p.(Thr33Asn) g.41634588C>A Copied from the Exome Variant Server NUSAP1_000012 79/11914 30/8194 49/3720
1 c.128T>G r.(?) p.(Ile43Ser) g.41634618T>G Copied from the Exome Variant Server NUSAP1_000013 3/11912 3/8200 0/3712
1 c.162+8A>G r.(=) p.(=) g.41634660A>G Copied from the Exome Variant Server NUSAP1_000014 3/12004 0/8220 3/3784
1 c.162+37A>G r.(=) p.(=) g.41634689A>G Copied from the Exome Variant Server NUSAP1_000015 225/12040 112/8242 113/3798
1 c.163-28C>G r.(=) p.(=) g.41641268C>G Copied from the Exome Variant Server NUSAP1_000016 4/11958 4/8222 0/3736
1 c.287G>A r.(?) p.(Arg96His) g.41641420G>A Copied from the Exome Variant Server NUSAP1_000017 1/12464 1/8396 0/4068
1 c.299A>G r.(?) p.(Asp100Gly) g.41641432A>G Copied from the Exome Variant Server NUSAP1_000018 182/12434 1/8378 181/4056
1 c.302C>G r.(?) p.(Ser101*) g.41641435C>G Copied from the Exome Variant Server NUSAP1_000019 1/12422 0/8372 1/4050
1 c.306+48G>A r.(=) p.(=) g.41641487G>A Copied from the Exome Variant Server NUSAP1_000020 14/12088 12/8264 2/3824
1 c.307-37del r.(=) p.(=) g.41643149del Copied from the Exome Variant Server NUSAP1_000021 5/11316 4/7808 1/3508
1 c.307-31G>A r.(=) p.(=) g.41643155G>A Copied from the Exome Variant Server NUSAP1_000022 11/11764 0/8148 11/3616
1 c.307-27T>C r.(=) p.(=) g.41643159T>C Copied from the Exome Variant Server NUSAP1_000023 2/11762 0/8144 2/3618
1 c.307-3T>A r.spl? p.? g.41643183T>A Copied from the Exome Variant Server NUSAP1_000024 1/11778 0/8150 1/3628
1 c.313C>G r.(?) p.(His105Asp) g.41643192C>G Copied from the Exome Variant Server NUSAP1_000025 2/11804 0/8164 2/3640
1 c.341C>A r.(?) p.(Thr114Asn) g.41643220C>A Copied from the Exome Variant Server NUSAP1_000026 1/11882 1/8200 0/3682
1 c.351G>T r.(?) p.(Gln117His) g.41643230G>T Copied from the Exome Variant Server NUSAP1_000027 1/11910 0/8216 1/3694
1 c.390T>C r.(=) p.(=) g.41643269T>C Copied from the Exome Variant Server NUSAP1_000028 1/12058 1/8260 0/3798
1 c.401C>A r.(?) p.(Pro134His) g.41643280C>A Copied from the Exome Variant Server NUSAP1_000029 1/12072 1/8268 0/3804
1 c.440T>A r.(?) p.(Val147Asp) g.41643319T>A Copied from the Exome Variant Server NUSAP1_000030 1/12082 1/8272 0/3810
1 c.454A>G r.(?) p.(Arg152Gly) g.41648242A>G Copied from the Exome Variant Server NUSAP1_000031 1/11758 1/8142 0/3616
1 c.507A>G r.(=) p.(=) g.41648295A>G Copied from the Exome Variant Server NUSAP1_000032 1/11814 0/8158 1/3656
1 c.519del r.(?) p.(Asn175Ilefs*42) g.41648307del Copied from the Exome Variant Server NUSAP1_000033 1/11370 1/7828 0/3542
1 c.538A>G r.(?) p.(Ile180Val) g.41648326A>G Copied from the Exome Variant Server NUSAP1_000034 2/11858 2/8168 0/3690
1 c.550+47C>T r.(=) p.(=) g.41648385C>T Copied from the Exome Variant Server NUSAP1_000035 2/11860 2/8172 0/3688
1 c.551-14T>C r.(=) p.(=) g.41650333T>C Copied from the Exome Variant Server NUSAP1_000037 2/11602 2/8026 0/3576
1 c.560A>G r.(?) p.(Lys187Arg) g.41650356A>G Copied from the Exome Variant Server NUSAP1_000036 1/11644 1/8056 0/3588
1 c.571G>A r.(?) p.(Ala191Thr) g.41650367G>A Copied from the Exome Variant Server NUSAP1_000038 1/11656 1/8070 0/3586
1 c.590A>C r.(?) p.(Glu197Ala) g.41650386A>C Copied from the Exome Variant Server NUSAP1_000039 1/11652 1/8064 0/3588
1 c.689G>A r.(?) p.(Arg230Lys) g.41657628G>A Copied from the Exome Variant Server NUSAP1_000040 1/12146 0/8300 1/3846
1 c.735C>T r.(=) p.(=) g.41657674C>T Copied from the Exome Variant Server NUSAP1_000041 1/12110 1/8276 0/3834
1 c.744A>C r.(?) p.(Gln248His) g.41657683A>C Copied from the Exome Variant Server NUSAP1_000042 1/12098 1/8272 0/3826
1 c.745C>T r.(?) p.(Arg249*) g.41657684C>T Copied from the Exome Variant Server NUSAP1_000043 1/12098 0/8274 1/3824
1 c.746G>A r.(?) p.(Arg249Gln) g.41657685G>A Copied from the Exome Variant Server NUSAP1_000044 1/12080 1/8270 0/3810
1 c.749G>A r.(?) p.(Arg250His) g.41657688G>A Copied from the Exome Variant Server NUSAP1_000045 6/12060 1/8262 5/3798
1 c.753G>A r.(=) p.(=) g.41657692G>A Copied from the Exome Variant Server NUSAP1_000046 1/12062 1/8270 0/3792
1 c.760C>T r.(?) p.(Arg254Trp) g.41657699C>T Copied from the Exome Variant Server NUSAP1_000047 1/12070 0/8272 1/3798
1 c.789C>T r.(=) p.(=) g.41657728C>T Copied from the Exome Variant Server NUSAP1_000048 19/12076 0/8268 19/3808
1 c.816C>T r.(=) p.(=) g.41657755C>T Copied from the Exome Variant Server NUSAP1_000049 12/12056 0/8258 12/3798
1 c.848+38T>C r.(=) p.(=) g.41657825T>C Copied from the Exome Variant Server NUSAP1_000050 1/11834 1/8166 0/3668
1 c.849-39C>A r.(=) p.(=) g.41663686C>A Copied from the Exome Variant Server NUSAP1_000051 1/12066 1/8260 0/3806
1 c.849-6A>G r.(=) p.(=) g.41663719A>G Copied from the Exome Variant Server NUSAP1_000052 2/12098 2/8270 0/3828
1 c.849-4T>G r.spl? p.? g.41663721T>G Copied from the Exome Variant Server NUSAP1_000053 1/12106 1/8274 0/3832
1 c.860del r.(?) p.(Ala287Valfs*11) g.41663736del Copied from the Exome Variant Server NUSAP1_000054 1/11664 1/7942 0/3722
1 c.873T>C r.(=) p.(=) g.41663749T>C Copied from the Exome Variant Server NUSAP1_000055 1/12138 1/8282 0/3856
1 c.877C>T r.(?) p.(His293Tyr) g.41663753C>T Copied from the Exome Variant Server NUSAP1_000056 1/12136 1/8282 0/3854
1 c.878_879insT r.(?) p.(Lys294*) g.41663754_41663755insT Copied from the Exome Variant Server NUSAP1_000057 1/11658 0/7930 1/3728
1 c.913T>A r.(?) p.(Ser305Thr) g.41663789T>A Copied from the Exome Variant Server NUSAP1_000058 3/12112 3/8272 0/3840
1 c.952G>A r.(?) p.(Glu318Lys) g.41663828G>A Copied from the Exome Variant Server NUSAP1_000059 29/11978 0/8236 29/3742
1 c.983C>T r.(?) p.(Thr328Ile) g.41663859C>T Copied from the Exome Variant Server NUSAP1_000060 43/11902 1/8190 42/3712
1 c.990G>A r.(=) p.(=) g.41663866G>A Copied from the Exome Variant Server NUSAP1_000061 1/11858 1/8178 0/3680
1 c.1001C>T r.(?) p.(Ala334Val) g.41663877C>T Copied from the Exome Variant Server NUSAP1_000062 1/11844 1/8172 0/3672
1 c.1006+25A>T r.(=) p.(=) g.41663907A>T Copied from the Exome Variant Server NUSAP1_000063 1/11788 1/8152 0/3636
1 c.1006+29_1006+30del r.(=) p.(=) g.41663911_41663912del Copied from the Exome Variant Server NUSAP1_000064 5/11328 0/7804 5/3524
1 c.1006+30G>T r.(=) p.(=) g.41663912G>T Copied from the Exome Variant Server NUSAP1_000065 20/11794 0/8158 20/3636
1 c.1041G>A r.(=) p.(=) g.41667944G>A Copied from the Exome Variant Server NUSAP1_000066 182/12990 0/8596 182/4394
1 c.1065A>G r.(=) p.(=) g.41667968A>G Copied from the Exome Variant Server NUSAP1_000067 20/12990 18/8598 2/4392
1 c.1109A>G r.(?) p.(Tyr370Cys) g.41668012A>G Copied from the Exome Variant Server NUSAP1_000068 1/12942 1/8580 0/4362
1 c.1123+47T>C r.(=) p.(=) g.41668073T>C Copied from the Exome Variant Server NUSAP1_000069 1/12504 0/8460 1/4044
1 c.1124-16C>T r.(=) p.(=) g.41669378C>T Copied from the Exome Variant Server NUSAP1_000070 2/11428 2/7908 0/3520
1 c.1199A>G r.(?) p.(Lys400Arg) g.41669469A>G Copied from the Exome Variant Server NUSAP1_000071 2/11620 2/8054 0/3566
1 c.1232+20G>T r.(=) p.(=) g.41669522G>T Copied from the Exome Variant Server NUSAP1_000072 1/11292 0/7808 1/3484
1 c.1233-35T>G r.(=) p.(=) g.41672256T>G Copied from the Exome Variant Server NUSAP1_000073 1/11952 1/8194 0/3758
1 c.1233-21T>C r.(=) p.(=) g.41672270T>C Copied from the Exome Variant Server NUSAP1_000074 1/11946 1/8206 0/3740
1 c.1233-11A>G r.(=) p.(=) g.41672280A>G Copied from the Exome Variant Server NUSAP1_000075 1/11936 1/8208 0/3728
1 c.1243C>T r.(?) p.(Arg415Trp) g.41672301C>T Copied from the Exome Variant Server NUSAP1_000076 1/11954 0/8220 1/3734
1 c.1253G>T r.(?) p.(Arg418Leu) g.41672311G>T Copied from the Exome Variant Server NUSAP1_000077 1/11934 0/8214 1/3720
1 c.1265G>A r.(?) p.(Arg422Gln) g.41672323G>A Copied from the Exome Variant Server NUSAP1_000078 1/11900 1/8194 0/3706
1 c.1303G>T r.(?) p.(Gly435Cys) g.41672361G>T Copied from the Exome Variant Server NUSAP1_000079 1/11822 1/8152 0/3670
1 c.1326A>G r.(=) p.(=) g.41672384A>G Copied from the Exome Variant Server NUSAP1_000080 2277/11752 2091/8126 186/3626
1 c.*36del r.(=) p.(=) g.41672420del Copied from the Exome Variant Server NUSAP1_000081 5/11028 5/7604 0/3424
Legend