Unique variants in gene LNPEP

Information The variants shown are described using the NM_005575.2 transcript reference sequence.

139 entries on 2 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.20-48del r.(=) p.(=) g.96314794del Copied from the Exome Variant Server LNPEP_000002 421/12240 291/8176 130/4064
1 c.20-48dup r.(=) p.(=) g.96314794dup Copied from the Exome Variant Server LNPEP_000001 146/12240 104/8176 42/4064
1 c.20-47T>G r.(=) p.(=) g.96314795T>G Copied from the Exome Variant Server LNPEP_000003 460/12816 424/8564 36/4252
1 c.94A>G r.(?) p.(Lys32Glu) g.96314916A>G Copied from the Exome Variant Server LNPEP_000004 3/13006 0/8600 3/4406
1 c.108A>G r.(=) p.(=) g.96314930A>G Copied from the Exome Variant Server LNPEP_000005 1/13006 1/8600 0/4406
1 c.110A>C r.(?) p.(His37Pro) g.96314932A>C Copied from the Exome Variant Server LNPEP_000006 1/13006 0/8600 1/4406
1 c.112C>G r.(?) p.(Pro38Ala) g.96314934C>G Copied from the Exome Variant Server LNPEP_000007 1/13006 1/8600 0/4406
1 c.113C>G r.(?) p.(Pro38Arg) g.96314935C>G Copied from the Exome Variant Server LNPEP_000008 23/13006 19/8600 4/4406
1 c.174T>G r.(=) p.(=) g.96314996T>G Copied from the Exome Variant Server LNPEP_000009 1/13006 0/8600 1/4406
1 c.179A>T r.(?) p.(Glu60Val) g.96315001A>T Copied from the Exome Variant Server LNPEP_000010 2/13006 2/8600 0/4406
1 c.188T>C r.(?) p.(Met63Thr) g.96315010T>C Copied from the Exome Variant Server LNPEP_000011 1/13006 1/8600 0/4406
1 c.189G>A r.(?) p.(Met63Ile) g.96315011G>A Copied from the Exome Variant Server LNPEP_000012 2/13006 0/8600 2/4406
1 c.205G>A r.(?) p.(Asp69Asn) g.96315027G>A Copied from the Exome Variant Server LNPEP_000013 1/13006 1/8600 0/4406
1 c.249T>C r.(=) p.(=) g.96315071T>C Copied from the Exome Variant Server LNPEP_000014 1/13006 1/8600 0/4406
1 c.265C>T r.(?) p.(Arg89Trp) g.96315087C>T Copied from the Exome Variant Server LNPEP_000015 7/13006 0/8600 7/4406
1 c.266G>A r.(?) p.(Arg89Gln) g.96315088G>A Copied from the Exome Variant Server LNPEP_000016 6/13006 0/8600 6/4406
1 c.299A>C r.(?) p.(Asp100Ala) g.96315121A>C Copied from the Exome Variant Server LNPEP_000017 1/13006 0/8600 1/4406
1 c.336G>A r.(=) p.(=) g.96315158G>A Copied from the Exome Variant Server LNPEP_000018 1/13006 0/8600 1/4406
1 c.354C>T r.(=) p.(=) g.96315176C>T Copied from the Exome Variant Server LNPEP_000019 1/13006 1/8600 0/4406
1 c.373A>G r.(?) p.(Ile125Val) g.96315195A>G Copied from the Exome Variant Server LNPEP_000020 1/13006 1/8600 0/4406
1 c.443T>C r.(?) p.(Ile148Thr) g.96315265T>C Copied from the Exome Variant Server LNPEP_000021 1/13006 1/8600 0/4406
1 c.453T>G r.(?) p.(Ile151Met) g.96315275T>G Copied from the Exome Variant Server LNPEP_000022 1/13006 0/8600 1/4406
1 c.498C>G r.(?) p.(Ile166Met) g.96315320C>G Copied from the Exome Variant Server LNPEP_000023 187/13006 168/8600 19/4406
1 c.541C>T r.(=) p.(=) g.96315363C>T Copied from the Exome Variant Server LNPEP_000024 3/13006 3/8600 0/4406
1 c.549G>A r.(=) p.(=) g.96315371G>A Copied from the Exome Variant Server LNPEP_000025 20/13006 18/8600 2/4406
1 c.561G>C r.(=) p.(=) g.96315383G>C Copied from the Exome Variant Server LNPEP_000026 1/13006 1/8600 0/4406
1 c.589T>G r.(?) p.(Ser197Ala) g.96315411T>G Copied from the Exome Variant Server LNPEP_000027 18/13006 0/8600 18/4406
1 c.774G>A r.(=) p.(=) g.96315596G>A Copied from the Exome Variant Server LNPEP_000028 1/13006 0/8600 1/4406
1 c.860+33C>T r.(=) p.(=) g.96315715C>T Copied from the Exome Variant Server LNPEP_000029 2/13000 2/8596 0/4404
1 c.861-36T>C r.(=) p.(=) g.96320748T>C Copied from the Exome Variant Server LNPEP_000030 2/13006 2/8600 0/4406
1 c.861-35C>T r.(=) p.(=) g.96320749C>T Copied from the Exome Variant Server LNPEP_000031 16/13006 0/8600 16/4406
1 c.861-33del r.(=) p.(=) g.96320751del Copied from the Exome Variant Server LNPEP_000032 1/12520 1/8254 0/4266
1 c.861-25T>C r.(=) p.(=) g.96320759T>C Copied from the Exome Variant Server LNPEP_000033 1/13006 0/8600 1/4406
1 c.864C>T r.(=) p.(=) g.96320787C>T Copied from the Exome Variant Server LNPEP_000034 1/13006 0/8600 1/4406
1 c.892G>A r.(?) p.(Ala298Thr) g.96320815G>A Copied from the Exome Variant Server LNPEP_000035 1/13006 0/8600 1/4406
1 c.946A>G r.(?) p.(Ile316Val) g.96320869A>G Copied from the Exome Variant Server LNPEP_000036 1/13006 0/8600 1/4406
1 c.979G>A r.(?) p.(Ala327Thr) g.96320902G>A Copied from the Exome Variant Server LNPEP_000037 1/13006 1/8600 0/4406
1 c.999+4C>G r.spl? p.? g.96320926C>G Copied from the Exome Variant Server LNPEP_000038 1/13006 0/8600 1/4406
1 c.1000-38C>T r.(=) p.(=) g.96322205C>T Copied from the Exome Variant Server LNPEP_000039 1/13006 0/8600 1/4406
1 c.1011C>T r.(=) p.(=) g.96322254C>T Copied from the Exome Variant Server LNPEP_000040 1/13006 1/8600 0/4406
1 c.1012G>A r.(?) p.(Val338Ile) g.96322255G>A Copied from the Exome Variant Server LNPEP_000041 5/13006 2/8600 3/4406
1 c.1032T>C r.(=) p.(=) g.96322275T>C Copied from the Exome Variant Server LNPEP_000043 5/13006 0/8600 5/4406
1 c.1035G>A r.(=) p.(=) g.96322278G>A Copied from the Exome Variant Server LNPEP_000045 1/13006 1/8600 0/4406
1 c.1046C>A r.(?) p.(Ser349Tyr) g.96322289C>A Copied from the Exome Variant Server LNPEP_000047 1/13006 0/8600 1/4406
1 c.1106T>A r.(?) p.(Leu369Gln) g.96322349T>A Copied from the Exome Variant Server LNPEP_000042 2/13006 2/8600 0/4406
1 c.1112A>G r.(?) p.(Gln371Arg) g.96322355A>G Copied from the Exome Variant Server LNPEP_000044 1/13006 0/8600 1/4406
1 c.1117G>A r.(?) p.(Val373Ile) g.96322360G>A Copied from the Exome Variant Server LNPEP_000046 535/13006 494/8600 41/4406
1 c.1131+11G>A r.(=) p.(=) g.96322385G>A Copied from the Exome Variant Server LNPEP_000048 1/13006 1/8600 0/4406
1 c.1131+45C>T r.(=) p.(=) g.96322419C>T Copied from the Exome Variant Server LNPEP_000049 5386/13006 3593/8600 1793/4406
1 c.1132-52A>G r.(=) p.(=) g.96328667A>G Copied from the Exome Variant Server LNPEP_000050 8/5734 0/3982 8/1752
1 c.1132-49C>T r.(=) p.(=) g.96328670C>T Copied from the Exome Variant Server LNPEP_000051 3/13004 0/8598 3/4406
1 c.1138A>G r.(?) p.(Ile380Val) g.96328725A>G Copied from the Exome Variant Server LNPEP_000052 1/13004 0/8598 1/4406
1 c.1143T>A r.(?) p.(Tyr381*) g.96328730T>A Copied from the Exome Variant Server LNPEP_000053 1/13004 1/8598 0/4406
1 c.1252+12_1252+13del r.(=) p.(=) g.96328851_96328852del Copied from the Exome Variant Server LNPEP_000054 1/12498 0/8240 1/4258
1 c.1253-12T>C r.(=) p.(=) g.96329509T>C Copied from the Exome Variant Server LNPEP_000055 3/13006 3/8600 0/4406
1 c.1354A>G r.(?) p.(Met452Val) g.96329622A>G Copied from the Exome Variant Server LNPEP_000056 1/13006 1/8600 0/4406
1 c.1365A>G r.(=) p.(=) g.96329633A>G Copied from the Exome Variant Server LNPEP_000057 1/13006 1/8600 0/4406
1 c.1386T>G r.(?) p.(Ile462Met) g.96329654T>G Copied from the Exome Variant Server LNPEP_000059 1/13006 0/8600 1/4406
1 c.1407+43C>T r.(=) p.(=) g.96329718C>T Copied from the Exome Variant Server LNPEP_000061 1/13006 0/8600 1/4406
1 c.1407+47A>G r.(=) p.(=) g.96329722A>G Copied from the Exome Variant Server LNPEP_000063 1/13006 1/8600 0/4406
1 c.1408-41C>T r.(=) p.(=) g.96332053C>T Copied from the Exome Variant Server LNPEP_000065 1/13004 1/8598 0/4406
1 c.1408-17G>A r.(=) p.(=) g.96332077G>A Copied from the Exome Variant Server LNPEP_000067 3/13006 3/8600 0/4406
1 c.1521+25A>G r.(=) p.(=) g.96332232A>G Copied from the Exome Variant Server LNPEP_000069 1/13006 1/8600 0/4406
1 c.1522-29G>A r.(=) p.(=) g.96333689G>A Copied from the Exome Variant Server LNPEP_000071 1/12968 1/8574 0/4394
1 c.1556T>C r.(?) p.(Met519Thr) g.96333752T>C Copied from the Exome Variant Server LNPEP_000073 1/12998 1/8592 0/4406
1 c.1663C>G r.(?) p.(Leu555Val) g.96339128C>G Copied from the Exome Variant Server LNPEP_000075 1/13006 1/8600 0/4406
1 c.1747T>C r.(?) p.(Ser583Pro) g.96339212T>C Copied from the Exome Variant Server LNPEP_000077 1/13006 1/8600 0/4406
1 c.1785+23T>G r.(=) p.(=) g.96339273T>G Copied from the Exome Variant Server LNPEP_000079 7081/13006 4521/8600 2560/4406
1 c.1785+49G>A r.(=) p.(=) g.96339299G>A Copied from the Exome Variant Server LNPEP_000081 6/13006 6/8600 0/4406
1 c.1868A>C r.(?) p.(Lys623Thr) g.96341859A>C Copied from the Exome Variant Server LNPEP_000058 1/13000 0/8594 1/4406
1 c.1877A>G r.(?) p.(Lys626Arg) g.96341868A>G Copied from the Exome Variant Server LNPEP_000060 1/12998 1/8594 0/4404
1 c.1886T>C r.(?) p.(Phe629Ser) g.96341877T>C Copied from the Exome Variant Server LNPEP_000062 1/12996 1/8592 0/4404
1 c.1921C>T r.(?) p.(Pro641Ser) g.96341912C>T Copied from the Exome Variant Server LNPEP_000064 150/13000 136/8596 14/4404
1 c.1946+21C>A r.(=) p.(=) g.96341958C>A Copied from the Exome Variant Server LNPEP_000066 6/12978 6/8594 0/4384
1 c.1946+43C>T r.(=) p.(=) g.96341980C>T Copied from the Exome Variant Server LNPEP_000068 25/12850 0/8552 25/4298
1 c.1946+46G>T r.(=) p.(=) g.96341983G>T Copied from the Exome Variant Server LNPEP_000070 1/12810 1/8540 0/4270
1 c.1947-33T>C r.(=) p.(=) g.96342098T>C Copied from the Exome Variant Server LNPEP_000072 3/12930 0/8568 3/4362
1 c.1948T>C r.(?) p.(Tyr650His) g.96342132T>C Copied from the Exome Variant Server LNPEP_000074 1/12996 1/8592 0/4404
1 c.1969T>C r.(?) p.(Ser657Pro) g.96342153T>C Copied from the Exome Variant Server LNPEP_000076 1/12996 1/8592 0/4404
1 c.2035+18G>A r.(=) p.(=) g.96342237G>A Copied from the Exome Variant Server LNPEP_000078 1/12990 0/8588 1/4402
1 c.2035+49T>G r.(=) p.(=) g.96342268T>G Copied from the Exome Variant Server LNPEP_000080 1/12976 0/8582 1/4394
1 c.2045A>G r.(?) p.(Asn682Ser) g.96349361A>G Copied from the Exome Variant Server LNPEP_000082 1/13006 0/8600 1/4406
1 c.2068G>A r.(?) p.(Val690Ile) g.96349384G>A Copied from the Exome Variant Server LNPEP_000083 1/13006 1/8600 0/4406
1 c.2094T>A r.(=) p.(=) g.96349410T>A Copied from the Exome Variant Server LNPEP_000084 1/13004 1/8598 0/4406
1 c.2182C>A r.(=) p.(=) g.96349498C>A Copied from the Exome Variant Server LNPEP_000085 32/13006 0/8600 32/4406
1 c.2189A>G r.(?) p.(Asn730Ser) g.96349505A>G Copied from the Exome Variant Server LNPEP_000086 36/13006 1/8600 35/4406
1 c.2203A>G r.(?) p.(Ile735Val) g.96349519A>G Copied from the Exome Variant Server LNPEP_000087 1/13006 1/8600 0/4406
1 c.2205C>T r.(=) p.(=) g.96349521C>T Copied from the Exome Variant Server LNPEP_000088 1/13006 1/8600 0/4406
1 c.2218G>C r.(?) p.(Gly740Arg) g.96349534G>C Copied from the Exome Variant Server LNPEP_000089 1/13006 0/8600 1/4406
1 c.2219+10A>G r.(=) p.(=) g.96349545A>G Copied from the Exome Variant Server LNPEP_000090 100/13006 93/8600 7/4406
1 c.2220-42G>A r.(=) p.(=) g.96350601G>A Copied from the Exome Variant Server LNPEP_000091 1/13006 1/8600 0/4406
1 c.2230G>A r.(?) p.(Val744Ile) g.96350653G>A Copied from the Exome Variant Server LNPEP_000092 1/13006 1/8600 0/4406
1 c.2268T>G r.(=) p.(=) g.96350691T>G Copied from the Exome Variant Server LNPEP_000093 2/13006 2/8600 0/4406
1 c.2287G>A r.(?) p.(Ala763Thr) g.96350710G>A Copied from the Exome Variant Server LNPEP_000094 951/13006 638/8600 313/4406
1 c.2356G>A r.(?) p.(Asp786Asn) g.96350779G>A Copied from the Exome Variant Server LNPEP_000095 1/13006 1/8600 0/4406
1 c.2374G>A r.(?) p.(Val792Met) g.96350797G>A Copied from the Exome Variant Server LNPEP_000096 1/13006 1/8600 0/4406
1 c.2376+33T>G r.(=) p.(=) g.96350832T>G Copied from the Exome Variant Server LNPEP_000097 1/13002 1/8598 0/4404
1 c.2376+47G>T r.(=) p.(=) g.96350846G>T Copied from the Exome Variant Server LNPEP_000098 104/13002 98/8598 6/4404
1 c.2377-45G>A r.(=) p.(=) g.96357959G>A Copied from the Exome Variant Server LNPEP_000099 1/13006 0/8600 1/4406
1 c.2377-36A>G r.(=) p.(=) g.96357968A>G Copied from the Exome Variant Server LNPEP_000100 1/13006 1/8600 0/4406
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