Unique variants in gene RILP

Information The variants shown are described using the NM_031430.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.39G>C r.(?) p.(Trp13Cys) g.1553060C>G Copied from the Exome Variant Server RILP_000055 1/10348 0/7162 1/3186
1 c.59G>A r.(?) p.(Gly20Glu) g.1553040C>T Copied from the Exome Variant Server RILP_000054 8/11130 8/7576 0/3554
1 c.96C>A r.(=) p.(=) g.1553003G>T Copied from the Exome Variant Server RILP_000053 542/11722 32/7922 510/3800
1 c.106G>A r.(?) p.(Gly36Ser) g.1552993C>T Copied from the Exome Variant Server RILP_000052 3/11808 3/7970 0/3838
1 c.129G>A r.(=) p.(=) g.1552970C>T Copied from the Exome Variant Server RILP_000051 2/11640 2/7882 0/3758
1 c.143C>G r.(?) p.(Pro48Arg) g.1552956G>C Copied from the Exome Variant Server RILP_000050 1/11484 0/7758 1/3726
1 c.150G>A r.(=) p.(=) g.1552949C>T Copied from the Exome Variant Server RILP_000049 1/11470 0/7764 1/3706
1 c.202G>T r.(?) p.(Ala68Ser) g.1552897C>A Copied from the Exome Variant Server RILP_000048 1/11592 0/7802 1/3790
1 c.228+35C>T r.(=) p.(=) g.1552836G>A Copied from the Exome Variant Server RILP_000047 966/9594 40/6582 926/3012
1 c.241G>A r.(?) p.(Ala81Thr) g.1552787C>T Copied from the Exome Variant Server RILP_000046 316/7594 23/5352 293/2242
1 c.263del r.(?) p.(Leu88Argfs*67) g.1552765del Copied from the Exome Variant Server RILP_000045 22/6074 8/4292 14/1782
1 c.323-33G>C r.(=) p.(=) g.1552633C>G Copied from the Exome Variant Server RILP_000044 56/9476 0/6324 56/3152
1 c.404G>A r.(?) p.(Arg135Gln) g.1552519C>T Copied from the Exome Variant Server RILP_000043 93/10552 82/7062 11/3490
1 c.597G>A r.(=) p.(=) g.1552171C>T Copied from the Exome Variant Server RILP_000042 956/10536 43/7124 913/3412
1 c.675+9C>T r.(=) p.(=) g.1552084G>A Copied from the Exome Variant Server RILP_000041 1/11936 0/8064 1/3872
1 c.675+12A>T r.(=) p.(=) g.1552081T>A Copied from the Exome Variant Server RILP_000040 1/11986 1/8078 0/3908
1 c.675+30C>T r.(=) p.(=) g.1552063G>A Copied from the Exome Variant Server RILP_000039 10/12110 9/8138 1/3972
1 c.675+38G>T r.(=) p.(=) g.1552055C>A Copied from the Exome Variant Server RILP_000038 1103/12116 43/8132 1060/3984
1 c.676-49G>A r.(=) p.(=) g.1551838C>T Copied from the Exome Variant Server RILP_000037 30/12984 0/8584 30/4400
1 c.676-12_676-8del r.(=) p.(=) g.1551797_1551801del Copied from the Exome Variant Server RILP_000036 10/12512 0/8248 10/4264
1 c.684C>G r.(=) p.(=) g.1551781G>C Copied from the Exome Variant Server RILP_000035 1/13000 1/8596 0/4404
1 c.698G>T r.(?) p.(Gly233Val) g.1551767C>A Copied from the Exome Variant Server RILP_000034 1/13006 0/8600 1/4406
1 c.703C>G r.(?) p.(Pro235Ala) g.1551762G>C Copied from the Exome Variant Server RILP_000033 2/13006 0/8600 2/4406
1 c.707C>G r.(?) p.(Ser236Trp) g.1551758G>C Copied from the Exome Variant Server RILP_000032 1/13006 1/8600 0/4406
1 c.733C>T r.(?) p.(Arg245Trp) g.1551732G>A Copied from the Exome Variant Server RILP_000031 4/13006 4/8600 0/4406
1 c.734G>T r.(?) p.(Arg245Leu) g.1551731C>A Copied from the Exome Variant Server RILP_000030 2/13006 2/8600 0/4406
1 c.812A>C r.(?) p.(Tyr271Ser) g.1551653T>G Copied from the Exome Variant Server RILP_000029 65/13006 0/8600 65/4406
1 c.821+24G>C r.(=) p.(=) g.1551620C>G Copied from the Exome Variant Server RILP_000028 1/13006 0/8600 1/4406
1 c.829C>T r.(?) p.(Leu277Phe) g.1551244G>A Copied from the Exome Variant Server RILP_000027 1/13006 1/8600 0/4406
1 c.841C>T r.(?) p.(Arg281Trp) g.1551232G>A Copied from the Exome Variant Server RILP_000026 1/13006 1/8600 0/4406
1 c.842G>A r.(?) p.(Arg281Gln) g.1551231C>T Copied from the Exome Variant Server RILP_000025 781/13006 4/8600 777/4406
1 c.846C>G r.(=) p.(=) g.1551227G>C Copied from the Exome Variant Server RILP_000024 1/13006 1/8600 0/4406
1 c.849C>T r.(=) p.(=) g.1551224G>A Copied from the Exome Variant Server RILP_000023 194/13006 73/8600 121/4406
1 c.850G>A r.(?) p.(Gly284Ser) g.1551223C>T Copied from the Exome Variant Server RILP_000022 339/13006 305/8600 34/4406
1 c.883C>T r.(?) p.(Arg295Trp) g.1551190G>A Copied from the Exome Variant Server RILP_000021 4/13006 4/8600 0/4406
1 c.944+34C>A r.(=) p.(=) g.1551095G>T Copied from the Exome Variant Server RILP_000020 341/13006 305/8600 36/4406
1 c.944+45C>T r.(=) p.(=) g.1551084G>A Copied from the Exome Variant Server RILP_000019 1/13006 1/8600 0/4406
1 c.945-18C>T r.(=) p.(=) g.1550301G>A Copied from the Exome Variant Server RILP_000018 1/13004 0/8600 1/4404
1 c.978C>T r.(=) p.(=) g.1550250G>A Copied from the Exome Variant Server RILP_000017 1/13006 1/8600 0/4406
1 c.979G>A r.(?) p.(Asp327Asn) g.1550249C>T Copied from the Exome Variant Server RILP_000016 1/13006 1/8600 0/4406
1 c.1003C>T r.(?) p.(Pro335Ser) g.1550225G>A Copied from the Exome Variant Server RILP_000015 35/13006 0/8600 35/4406
1 c.1004C>T r.(?) p.(Pro335Leu) g.1550224G>A Copied from the Exome Variant Server RILP_000014 1/13006 0/8600 1/4406
1 c.1008G>A r.(=) p.(=) g.1550220C>T Copied from the Exome Variant Server RILP_000013 2/13006 0/8600 2/4406
1 c.1028+6T>C r.(=) p.(=) g.1550194A>G Copied from the Exome Variant Server RILP_000012 1/13004 1/8600 0/4404
1 c.1028+35G>A r.(=) p.(=) g.1550165C>T Copied from the Exome Variant Server RILP_000011 1/13002 1/8596 0/4406
1 c.1028+43G>T r.(=) p.(=) g.1550157C>A Copied from the Exome Variant Server RILP_000010 1/13002 1/8596 0/4406
1 c.1045C>T r.(?) p.(Arg349Trp) g.1549897G>A Copied from the Exome Variant Server RILP_000009 1/13006 1/8600 0/4406
1 c.1046G>A r.(?) p.(Arg349Gln) g.1549896C>T Copied from the Exome Variant Server RILP_000008 56/13006 2/8600 54/4406
1 c.1054G>A r.(?) p.(Ala352Thr) g.1549888C>T Copied from the Exome Variant Server RILP_000007 10/13006 0/8600 10/4406
1 c.1080C>T r.(=) p.(=) g.1549862G>A Copied from the Exome Variant Server RILP_000006 1/13006 0/8600 1/4406
1 c.1135G>A r.(?) p.(Ala379Thr) g.1549807C>T Copied from the Exome Variant Server RILP_000005 1/13006 0/8600 1/4406
1 c.1155T>C r.(=) p.(=) g.1549787A>G Copied from the Exome Variant Server RILP_000004 3/13006 3/8600 0/4406
1 c.1164C>T r.(=) p.(=) g.1549778G>A Copied from the Exome Variant Server RILP_000003 2/13006 2/8600 0/4406
1 c.1171C>G r.(?) p.(Leu391Val) g.1549771G>C Copied from the Exome Variant Server RILP_000002 90/13006 0/8600 90/4406
1 c.1175G>T r.(?) p.(Cys392Phe) g.1549767C>A Copied from the Exome Variant Server RILP_000001 1/13006 1/8600 0/4406
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