Full data view for gene SNRPN

Information The variants shown are described using the NM_003097.3 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
Legend  

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.-495A>G r.(=) p.(=) g.25200105A>G Copied from the Exome Variant Server SNURF_000001 18/4566 0/3182 18/1384 - - - - - - -
?/? c.-485C>T r.(=) p.(=) g.25200115C>T Copied from the Exome Variant Server SNURF_000002 18/4566 0/3182 18/1384 - - - - - - -
?/? c.-475G>A r.(=) p.(=) g.25200125G>A Copied from the Exome Variant Server SNURF_000003 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-450G>A r.(=) p.(=) g.25200150G>A Copied from the Exome Variant Server SNRPN_000001 1/13004 1/8600 0/4404 - - - - - - -
?/? c.-447G>A r.(=) p.(=) g.25200153G>A Copied from the Exome Variant Server SNRPN_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-435C>G r.(=) p.(=) g.25200165C>G Copied from the Exome Variant Server SNRPN_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-435_-434insG r.(=) p.(=) g.25200165_25200166insG Copied from the Exome Variant Server SNRPN_000004 12/12518 12/8254 0/4264 - - - - - - -
?/? c.-434G>C r.(=) p.(=) g.25200166G>C Copied from the Exome Variant Server SNRPN_000005 10/13006 10/8600 0/4406 - - - - - - -
?/? c.-430C>G r.(=) p.(=) g.25200170C>G Copied from the Exome Variant Server SNRPN_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-413A>C r.(=) p.(=) g.25200187A>C Copied from the Exome Variant Server SNRPN_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-406C>G r.(=) p.(=) g.25200194C>G Copied from the Exome Variant Server SNRPN_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-391+12C>T r.(=) p.(=) g.25200221C>T Copied from the Exome Variant Server SNRPN_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-391+13G>A r.(=) p.(=) g.25200222G>A Copied from the Exome Variant Server SNRPN_000010 3/13006 2/8600 1/4406 - - - - - - -
?/? c.-391+29A>G r.(=) p.(=) g.25200238A>G Copied from the Exome Variant Server SNRPN_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-391+34G>C r.(=) p.(=) g.25200243G>C Copied from the Exome Variant Server SNRPN_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-391+94G>A r.(=) p.(=) g.25200303G>A Copied from the Exome Variant Server SNRPN_000013 635/4566 165/3182 470/1384 - - - - - - -
?/? c.-378C>T r.(=) p.(=) g.25207273C>T Copied from the Exome Variant Server SNRPN_000014 154/13006 4/8600 150/4406 - - - - - - -
?/? c.-370G>A r.(?) p.(Arg12Gln) g.25207281G>A Copied from the Exome Variant Server SNRPN_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-297A>G r.(=) p.(=) g.25207354A>G Copied from the Exome Variant Server SNRPN_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-296G>A r.(?) p.(Glu37Lys) g.25207355G>A Copied from the Exome Variant Server SNRPN_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-295+8C>G r.(=) p.(=) g.25207364C>G Copied from the Exome Variant Server SNRPN_000020 4/13006 0/8600 4/4406 - - - - - - -
?/? c.-295+8del r.(=) p.(=) g.25207364del Copied from the Exome Variant Server SNRPN_000019 2/12518 0/8254 2/4264 - - - - - - -
?/? c.-295+24C>G r.(=) p.(=) g.25207380C>G Copied from the Exome Variant Server SNRPN_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-295+25A>C r.(=) p.(=) g.25207381A>C Copied from the Exome Variant Server SNRPN_000024 45/13006 40/8600 5/4406 - - - - - - -
?/? c.-294-51A>G r.(=) p.(=) g.25213028A>G Copied from the Exome Variant Server SNRPN_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-294-47A>G r.(=) p.(=) g.25213032A>G Copied from the Exome Variant Server SNRPN_000018 79/13006 1/8600 78/4406 - - - - - - -
?/? c.-294-37A>G r.(=) p.(=) g.25213042A>G Copied from the Exome Variant Server SNRPN_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-294-28A>G r.(=) p.(=) g.25213051A>G Copied from the Exome Variant Server SNRPN_000023 108/13006 1/8600 107/4406 - - - - - - -
?/? c.-280C>T r.(?) p.(Pro42Leu) g.25213093C>T Copied from the Exome Variant Server SNRPN_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-276G>C r.(?) p.(Arg43Ser) g.25213097G>C Copied from the Exome Variant Server SNRPN_000026 7/13006 6/8600 1/4406 - - - - - - -
?/? c.-275C>T r.(?) p.(Arg44Cys) g.25213098C>T Copied from the Exome Variant Server SNRPN_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-274G>A r.(?) p.(Arg44His) g.25213099G>A Copied from the Exome Variant Server SNRPN_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-273T>C r.(=) p.(=) g.25213100T>C Copied from the Exome Variant Server SNRPN_000030 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-181T>C r.(=) p.(=) g.25213192T>C Copied from the Exome Variant Server SNRPN_000031 59/13006 0/8600 59/4406 - - - - - - -
?/? c.-172C>T r.(=) p.(=) g.25213201C>T Copied from the Exome Variant Server SNRPN_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-165T>C r.(=) p.(=) g.25213208T>C Copied from the Exome Variant Server SNRPN_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-156A>T r.(=) p.(=) g.25213217A>T Copied from the Exome Variant Server SNRPN_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-144+1G>A r.(=) p.(=) g.25213230G>A Copied from the Exome Variant Server SNRPN_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-89T>C r.(=) p.(=) g.25219512T>C Copied from the Exome Variant Server SNRPN_000036 2327/4566 1300/3182 1027/1384 - - - - - - -
?/? c.-39G>A r.(=) p.(=) g.25219562G>A Copied from the Exome Variant Server SNRPN_000037 203/12050 1/8264 202/3786 - - - - - - -
?/? c.-10A>C r.(=) p.(=) g.25219591A>C Copied from the Exome Variant Server SNRPN_000038 1/12122 0/8280 1/3842 - - - - - - -
?/? c.3+10A>G r.(=) p.(=) g.25219613A>G Copied from the Exome Variant Server SNRPN_000039 81/12158 76/8288 5/3870 - - - - - - -
?/? c.3+37T>C r.(=) p.(=) g.25219640T>C Copied from the Exome Variant Server SNRPN_000040 489/12222 2/8320 487/3902 - - - - - - -
?/? c.3+46C>T r.(=) p.(=) g.25219649C>T Copied from the Exome Variant Server SNRPN_000041 250/12222 1/8320 249/3902 - - - - - - -
?/? c.3+47G>A r.(=) p.(=) g.25219650G>A Copied from the Exome Variant Server SNRPN_000042 6/12208 1/8314 5/3894 - - - - - - -
?/? c.3+61G>T r.(=) p.(=) g.25219664G>T Copied from the Exome Variant Server SNRPN_000043 1/4566 0/3182 1/1384 - - - - - - -
?/? c.4-40G>A r.(=) p.(=) g.25220465G>A Copied from the Exome Variant Server SNRPN_000044 1/12862 0/8532 1/4330 - - - - - - -
?/? c.4-35C>T r.(=) p.(=) g.25220470C>T Copied from the Exome Variant Server SNRPN_000045 1/12896 0/8548 1/4348 - - - - - - -
?/? c.4-19C>G r.(=) p.(=) g.25220486C>G Copied from the Exome Variant Server SNRPN_000046 2/12948 0/8578 2/4370 - - - - - - -
?/? c.117T>G r.(?) p.(Asn39Lys) g.25220618T>G Copied from the Exome Variant Server SNRPN_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.155+31del r.(=) p.(=) g.25220687del Copied from the Exome Variant Server SNRPN_000048 1/12506 1/8254 0/4252 - - - - - - -
?/? c.155+36G>C r.(=) p.(=) g.25220692G>C Copied from the Exome Variant Server SNRPN_000049 31/12988 0/8600 31/4388 - - - - - - -
?/? c.156-31T>C r.(=) p.(=) g.25221421T>C Copied from the Exome Variant Server SNRPN_000050 1/11856 0/8170 1/3686 - - - - - - -
?/? c.156-25A>G r.(=) p.(=) g.25221427A>G Copied from the Exome Variant Server SNRPN_000051 1/11866 1/8174 0/3692 - - - - - - -
?/? c.156-22A>G r.(=) p.(=) g.25221430A>G Copied from the Exome Variant Server SNRPN_000052 4/11854 4/8172 0/3682 - - - - - - -
?/? c.156-17T>G r.(=) p.(=) g.25221435T>G Copied from the Exome Variant Server SNRPN_000053 1/11860 1/8172 0/3688 - - - - - - -
?/? c.156-11C>T r.(=) p.(=) g.25221441C>T Copied from the Exome Variant Server SNRPN_000054 1/11896 0/8180 1/3716 - - - - - - -
?/? c.183T>C r.(=) p.(=) g.25221479T>C Copied from the Exome Variant Server SNRPN_000055 2/12050 2/8238 0/3812 - - - - - - -
?/? c.261C>G r.(=) p.(=) g.25221557C>G Copied from the Exome Variant Server SNRPN_000056 11/12112 0/8264 11/3848 - - - - - - -
?/? c.267T>C r.(=) p.(=) g.25221563T>C Copied from the Exome Variant Server SNRPN_000057 23/12126 2/8264 21/3862 - - - - - - -
?/? c.267+21G>T r.(=) p.(=) g.25221584G>T Copied from the Exome Variant Server SNRPN_000058 16/12132 15/8278 1/3854 - - - - - - -
?/? c.268-28T>G r.(=) p.(=) g.25221996T>G Copied from the Exome Variant Server SNRPN_000059 1/12080 0/8254 1/3826 - - - - - - -
?/? c.340G>T r.(?) p.(Val114Leu) g.25222096G>T Copied from the Exome Variant Server SNRPN_000060 1/12096 1/8266 0/3830 - - - - - - -
?/? c.363C>A r.(=) p.(=) g.25222119C>A Copied from the Exome Variant Server SNRPN_000061 28/11930 0/8204 28/3726 - - - - - - -
?/? c.384_385insG r.(?) p.(Val131Cysfs*98) g.25222140_25222141insG Copied from the Exome Variant Server SNRPN_000062 29/11394 17/7840 12/3554 - - - - - - -
?/? c.408A>T r.(=) p.(=) g.25222164A>T Copied from the Exome Variant Server SNRPN_000063 1/11880 1/8190 0/3690 - - - - - - -
?/? c.420+6G>A r.(=) p.(=) g.25222182G>A Copied from the Exome Variant Server SNRPN_000064 1/11848 0/8188 1/3660 - - - - - - -
?/? c.420+34G>C r.(=) p.(=) g.25222210G>C Copied from the Exome Variant Server SNRPN_000065 6/11804 0/8160 6/3644 - - - - - - -
?/? c.420+44C>G r.(=) p.(=) g.25222220C>G Copied from the Exome Variant Server SNRPN_000067 1/11812 1/8154 0/3658 - - - - - - -
?/? c.421-47T>A r.(=) p.(=) g.25222878T>A Copied from the Exome Variant Server SNRPN_000069 1/12094 0/8264 1/3830 - - - - - - -
?/? c.427A>T r.(?) p.(Thr143Ser) g.25222931A>T Copied from the Exome Variant Server SNRPN_000071 1/12284 0/8350 1/3934 - - - - - - -
?/? c.462T>A r.(=) p.(=) g.25222966T>A Copied from the Exome Variant Server SNRPN_000073 2/12332 0/8370 2/3962 - - - - - - -
?/? c.467C>T r.(?) p.(Ala156Val) g.25222971C>T Copied from the Exome Variant Server SNRPN_000075 1/12330 1/8374 0/3956 - - - - - - -
?/? c.505C>T r.(?) p.(Pro169Ser) g.25223009C>T Copied from the Exome Variant Server SNRPN_000077 1/12204 0/8312 1/3892 - - - - - - -
?/? c.525G>A r.(=) p.(=) g.25223029G>A Copied from the Exome Variant Server SNRPN_000079 5/12160 4/8284 1/3876 - - - - - - -
?/? c.534C>T r.(=) p.(=) g.25223038C>T Copied from the Exome Variant Server SNRPN_000066 32/12118 0/8270 32/3848 - - - - - - -
?/? c.538G>A r.(?) p.(Gly180Ser) g.25223042G>A Copied from the Exome Variant Server SNRPN_000068 1/12102 0/8258 1/3844 - - - - - - -
?/? c.547A>G r.(?) p.(Thr183Ala) g.25223051A>G Copied from the Exome Variant Server SNRPN_000070 1/12110 1/8262 0/3848 - - - - - - -
?/? c.559+19C>T r.(=) p.(=) g.25223082C>T Copied from the Exome Variant Server SNRPN_000072 1/12068 0/8240 1/3828 - - - - - - -
?/? c.559+25C>T r.(=) p.(=) g.25223088C>T Copied from the Exome Variant Server SNRPN_000074 2/12060 1/8240 1/3820 - - - - - - -
?/? c.559+28A>G r.(=) p.(=) g.25223091A>G Copied from the Exome Variant Server SNRPN_000076 1/12054 1/8236 0/3818 - - - - - - -
?/? c.559+43_559+46del r.(=) p.(=) g.25223106_25223109del Copied from the Exome Variant Server SNRPN_000078 9/11546 0/7870 9/3676 - - - - - - -
?/? c.560-44A>G r.(=) p.(=) g.25223296A>G Copied from the Exome Variant Server SNRPN_000080 1/11820 1/8166 0/3654 - - - - - - -
?/? c.560-39A>G r.(=) p.(=) g.25223301A>G Copied from the Exome Variant Server SNRPN_000081 1/11820 1/8168 0/3652 - - - - - - -
?/? c.560-29G>A r.(=) p.(=) g.25223311G>A Copied from the Exome Variant Server SNRPN_000082 3/11832 3/8172 0/3660 - - - - - - -
?/? c.560-28C>G r.(=) p.(=) g.25223312C>G Copied from the Exome Variant Server SNRPN_000083 1/11832 0/8172 1/3660 - - - - - - -
?/? c.560-25T>G r.(=) p.(=) g.25223315T>G Copied from the Exome Variant Server SNRPN_000084 1/11830 0/8174 1/3656 - - - - - - -
?/? c.560-4G>A r.spl? p.? g.25223336G>A Copied from the Exome Variant Server SNRPN_000085 4/11864 3/8178 1/3686 - - - - - - -
?/? c.624T>G r.(=) p.(=) g.25223404T>G Copied from the Exome Variant Server SNRPN_000086 5/11966 5/8208 0/3758 - - - - - - -
?/? c.633G>A r.(=) p.(=) g.25223413G>A Copied from the Exome Variant Server SNRPN_000087 3/11994 3/8210 0/3784 - - - - - - -
?/? c.657A>G r.(=) p.(=) g.25223437A>G Copied from the Exome Variant Server SNRPN_000088 2/12024 0/8222 2/3802 - - - - - - -
?/? c.685+14T>G r.(=) p.(=) g.25223479T>G Copied from the Exome Variant Server SNRPN_000089 29/12066 0/8234 29/3832 - - - - - - -
?/? c.685+33C>T r.(=) p.(=) g.25223498C>T Copied from the Exome Variant Server SNRPN_000090 1/12068 1/8232 0/3836 - - - - - - -
?/? c.*13C>T r.(=) p.(=) g.25223604C>T Copied from the Exome Variant Server SNRPN_000091 1/12066 0/8244 1/3822 - - - - - - -
?/? c.*24A>T r.(=) p.(=) g.25223615A>T Copied from the Exome Variant Server SNRPN_000092 1/12032 0/8228 1/3804 - - - - - - -
?/? c.*25C>T r.(=) p.(=) g.25223616C>T Copied from the Exome Variant Server SNRPN_000093 32/12036 0/8228 32/3808 - - - - - - -
?/? c.*33C>T r.(=) p.(=) g.25223624C>T Copied from the Exome Variant Server SNRPN_000094 1/12030 0/8228 1/3802 - - - - - - -
?/? c.*43G>A r.(=) p.(=) g.25223634G>A Copied from the Exome Variant Server SNRPN_000095 11/11996 10/8212 1/3784 - - - - - - -
Legend