All transcript variants in gene CABIN1

Information The variants shown are described using the NM_012295.3 transcript reference sequence.

401 entries on 5 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     
?/? c.-26C>T r.(=) p.(=) g.24431940C>T Copied from the Exome Variant Server CABIN1_000001 7/13006 7/8600 0/4406
?/? c.-19G>C r.(=) p.(=) g.24431947G>C Copied from the Exome Variant Server CABIN1_000002 5/13006 5/8600 0/4406
?/? c.-6C>A r.(=) p.(=) g.24431960C>A Copied from the Exome Variant Server CABIN1_000003 1/13006 1/8600 0/4406
?/? c.3+27C>T r.(=) p.(=) g.24431995C>T Copied from the Exome Variant Server CABIN1_000004 1/13006 0/8600 1/4406
?/? c.4-20C>T r.(=) p.(=) g.24432517C>T Copied from the Exome Variant Server CABIN1_000005 2/13006 1/8600 1/4406
?/? c.4-13C>T r.(=) p.(=) g.24432524C>T Copied from the Exome Variant Server CABIN1_000006 1/13006 0/8600 1/4406
?/? c.4-10_4-9del r.(=) p.(=) g.24432527_24432528del Copied from the Exome Variant Server CABIN1_000007 1/12518 1/8254 0/4264
?/? c.45T>G r.(?) p.(Asp15Glu) g.24432578T>G Copied from the Exome Variant Server CABIN1_000008 8/13006 8/8600 0/4406
?/? c.96+9_96+10insATTA r.(=) p.(=) g.24432638_24432639insATTA Copied from the Exome Variant Server CABIN1_000009 1/12518 1/8254 0/4264
?/? c.97-29A>G r.(=) p.(=) g.24434767A>G Copied from the Exome Variant Server CABIN1_000010 1/13006 0/8600 1/4406
?/? c.97-17C>T r.(=) p.(=) g.24434779C>T Copied from the Exome Variant Server CABIN1_000011 5/13006 5/8600 0/4406
?/? c.151C>T r.(?) p.(Arg51Trp) g.24434850C>T Copied from the Exome Variant Server CABIN1_000012 1/13006 1/8600 0/4406
?/? c.172G>T r.(?) p.(Ala58Ser) g.24434871G>T Copied from the Exome Variant Server CABIN1_000013 1/13006 1/8600 0/4406
?/? c.195G>C r.(=) p.(=) g.24434894G>C Copied from the Exome Variant Server CABIN1_000014 2/13006 0/8600 2/4406
?/? c.210+30C>T r.(=) p.(=) g.24434939C>T Copied from the Exome Variant Server CABIN1_000015 1/13006 1/8600 0/4406
?/? c.210+31G>A r.(=) p.(=) g.24434940G>A Copied from the Exome Variant Server CABIN1_000016 1/13006 1/8600 0/4406
?/? c.211-31A>G r.(=) p.(=) g.24437556A>G Copied from the Exome Variant Server CABIN1_000017 1/13006 1/8600 0/4406
?/? c.211-13G>C r.(=) p.(=) g.24437574G>C Copied from the Exome Variant Server CABIN1_000018 1/13006 1/8600 0/4406
?/? c.219A>G r.(=) p.(=) g.24437595A>G Copied from the Exome Variant Server CABIN1_000019 1/13006 0/8600 1/4406
?/? c.223G>A r.(?) p.(Gly75Ser) g.24437599G>A Copied from the Exome Variant Server CABIN1_000020 1/13006 1/8600 0/4406
?/? c.308G>A r.(?) p.(Arg103Gln) g.24437684G>A Copied from the Exome Variant Server CABIN1_000021 1/13006 1/8600 0/4406
?/? c.313G>C r.(?) p.(Asp105His) g.24437689G>C Copied from the Exome Variant Server CABIN1_000022 1/13006 0/8600 1/4406
?/? c.328A>G r.(?) p.(Met110Val) g.24437704A>G Copied from the Exome Variant Server CABIN1_000023 2/13006 2/8600 0/4406
?/? c.345+14A>C r.(=) p.(=) g.24437735A>C Copied from the Exome Variant Server CABIN1_000024 2/13006 1/8600 1/4406
?/? c.345+43C>T r.(=) p.(=) g.24437764C>T Copied from the Exome Variant Server CABIN1_000025 1/13006 0/8600 1/4406
?/? c.345+49G>A r.(=) p.(=) g.24437770G>A Copied from the Exome Variant Server CABIN1_000026 8/13006 0/8600 8/4406
?/? c.346-27_346-26del r.(=) p.(=) g.24439339_24439340del Copied from the Exome Variant Server CABIN1_000027 72/12518 12/8254 60/4264
?/? c.346-9C>T r.(=) p.(=) g.24439357C>T Copied from the Exome Variant Server CABIN1_000028 1/13006 1/8600 0/4406
?/? c.418A>T r.(?) p.(Ile140Phe) g.24439438A>T Copied from the Exome Variant Server CABIN1_000029 2/13006 0/8600 2/4406
?/? c.431G>A r.(?) p.(Arg144His) g.24439451G>A Copied from the Exome Variant Server CABIN1_000030 2/13006 1/8600 1/4406
?/? c.484G>A r.(?) p.(Asp162Asn) g.24439504G>A Copied from the Exome Variant Server CABIN1_000031 2/13006 0/8600 2/4406
?/? c.526+30G>A r.(=) p.(=) g.24439576G>A Copied from the Exome Variant Server CABIN1_000032 21/13006 0/8600 21/4406
?/? c.527-38C>T r.(=) p.(=) g.24445515C>T Copied from the Exome Variant Server CABIN1_000033 1/13006 1/8600 0/4406
?/? c.527-28A>G r.(=) p.(=) g.24445525A>G Copied from the Exome Variant Server CABIN1_000034 2/13006 2/8600 0/4406
?/? c.527-7C>T r.(=) p.(=) g.24445546C>T Copied from the Exome Variant Server CABIN1_000035 1/13006 0/8600 1/4406
?/? c.527-6C>T r.(=) p.(=) g.24445547C>T Copied from the Exome Variant Server CABIN1_000036 1/13006 1/8600 0/4406
?/? c.527-5G>A r.spl? p.? g.24445548G>A Copied from the Exome Variant Server CABIN1_000037 1/13006 1/8600 0/4406
?/? c.568C>T r.(?) p.(Arg190Trp) g.24445594C>T Copied from the Exome Variant Server CABIN1_000038 4/13006 1/8600 3/4406
?/? c.656+10G>T r.(=) p.(=) g.24445692G>T Copied from the Exome Variant Server CABIN1_000039 1/13006 0/8600 1/4406
?/? c.656+35G>A r.(=) p.(=) g.24445717G>A Copied from the Exome Variant Server CABIN1_000040 1/13006 1/8600 0/4406
?/? c.657-48G>A r.(=) p.(=) g.24447239G>A Copied from the Exome Variant Server CABIN1_000041 2/13006 0/8600 2/4406
?/? c.657-15C>T r.(=) p.(=) g.24447272C>T Copied from the Exome Variant Server CABIN1_000042 162/13006 2/8600 160/4406
?/? c.666G>A r.(=) p.(=) g.24447296G>A Copied from the Exome Variant Server CABIN1_000043 1/13006 1/8600 0/4406
?/? c.673G>A r.(?) p.(Asp225Asn) g.24447303G>A Copied from the Exome Variant Server CABIN1_000044 599/13006 161/8600 438/4406
?/? c.680C>G r.(?) p.(Ser227Trp) g.24447310C>G Copied from the Exome Variant Server CABIN1_000045 7/13006 0/8600 7/4406
?/? c.705G>A r.(=) p.(=) g.24447335G>A Copied from the Exome Variant Server CABIN1_000046 1/13006 0/8600 1/4406
?/? c.759G>A r.(=) p.(=) g.24447389G>A Copied from the Exome Variant Server CABIN1_000047 2/13006 2/8600 0/4406
?/? c.760G>A r.(?) p.(Glu254Lys) g.24447390G>A Copied from the Exome Variant Server CABIN1_000048 1/13006 0/8600 1/4406
?/? c.763A>G r.(?) p.(Lys255Glu) g.24447393A>G Copied from the Exome Variant Server CABIN1_000049 1/13006 0/8600 1/4406
?/? c.770C>T r.(?) p.(Pro257Leu) g.24447400C>T Copied from the Exome Variant Server CABIN1_000050 1/13006 1/8600 0/4406
?/? c.806+12A>G r.(=) p.(=) g.24447448A>G Copied from the Exome Variant Server CABIN1_000051 1/13006 1/8600 0/4406
?/? c.806+15G>A r.(=) p.(=) g.24447451G>A Copied from the Exome Variant Server CABIN1_000052 2/13006 1/8600 1/4406
?/? c.806+29T>G r.(=) p.(=) g.24447465T>G Copied from the Exome Variant Server CABIN1_000053 2/13006 0/8600 2/4406
?/? c.806+31G>C r.(=) p.(=) g.24447467G>C Copied from the Exome Variant Server CABIN1_000054 1/13006 0/8600 1/4406
?/? c.806+34C>T r.(=) p.(=) g.24447470C>T Copied from the Exome Variant Server CABIN1_000055 5/13006 0/8600 5/4406
?/? c.806+51T>G r.(=) p.(=) g.24447487T>G Copied from the Exome Variant Server CABIN1_000056 1/13006 0/8600 1/4406
?/? c.807-42C>G r.(=) p.(=) g.24451294C>G Copied from the Exome Variant Server CABIN1_000057 1/13006 0/8600 1/4406
?/? c.807-3T>A r.spl? p.? g.24451333T>A Copied from the Exome Variant Server CABIN1_000058 1/13006 1/8600 0/4406
?/? c.852C>T r.(=) p.(=) g.24451381C>T Copied from the Exome Variant Server CABIN1_000059 13/13006 12/8600 1/4406
?/? c.860G>A r.(?) p.(Cys287Tyr) g.24451389G>A Copied from the Exome Variant Server CABIN1_000060 1/13006 1/8600 0/4406
?/? c.866C>T r.(?) p.(Pro289Leu) g.24451395C>T Copied from the Exome Variant Server CABIN1_000061 2/13006 0/8600 2/4406
?/? c.903G>A r.(=) p.(=) g.24451432G>A Copied from the Exome Variant Server CABIN1_000062 1/13006 0/8600 1/4406
?/? c.925C>T r.(?) p.(Pro309Ser) g.24451454C>T Copied from the Exome Variant Server CABIN1_000063 22/13006 0/8600 22/4406
?/? c.951G>A r.(=) p.(=) g.24451480G>A Copied from the Exome Variant Server CABIN1_000064 1/13006 1/8600 0/4406
?/? c.955G>A r.(?) p.(Val319Ile) g.24451484G>A Copied from the Exome Variant Server CABIN1_000065 1/13006 1/8600 0/4406
?/? c.988A>G r.(?) p.(Asn330Asp) g.24451517A>G Copied from the Exome Variant Server CABIN1_000066 1/13006 1/8600 0/4406
?/? c.1000G>T r.(?) p.(Ala334Ser) g.24451529G>T Copied from the Exome Variant Server CABIN1_000067 2/13006 2/8600 0/4406
?/? c.1035G>C r.(=) p.(=) g.24451564G>C Copied from the Exome Variant Server CABIN1_000068 1/13006 1/8600 0/4406
?/? c.1044C>G r.(=) p.(=) g.24451573C>G Copied from the Exome Variant Server CABIN1_000069 1/13006 1/8600 0/4406
?/? c.1093+29G>A r.(=) p.(=) g.24451651G>A Copied from the Exome Variant Server CABIN1_000070 1/13002 1/8598 0/4404
?/? c.1093+39C>T r.(=) p.(=) g.24451661C>T Copied from the Exome Variant Server CABIN1_000071 1/12996 1/8594 0/4402
?/? c.1093+40G>A r.(=) p.(=) g.24451662G>A Copied from the Exome Variant Server CABIN1_000072 1/12988 0/8586 1/4402
?/? c.1093+50C>T r.(=) p.(=) g.24451672C>T Copied from the Exome Variant Server CABIN1_000073 1/12982 1/8584 0/4398
?/? c.1109G>A r.(?) p.(Gly370Glu) g.24452670G>A Copied from the Exome Variant Server CABIN1_000074 1/13006 1/8600 0/4406
?/? c.1129G>T r.(?) p.(Val377Leu) g.24452690G>T Copied from the Exome Variant Server CABIN1_000075 2/13006 2/8600 0/4406
?/? c.1193G>A r.(?) p.(Arg398Gln) g.24452754G>A Copied from the Exome Variant Server CABIN1_000076 1/13006 1/8600 0/4406
?/? c.1212A>G r.(=) p.(=) g.24452773A>G Copied from the Exome Variant Server CABIN1_000077 15/13006 0/8600 15/4406
?/? c.1243A>G r.(?) p.(Met415Val) g.24452804A>G Copied from the Exome Variant Server CABIN1_000078 1/13006 1/8600 0/4406
?/? c.1248G>A r.(=) p.(=) g.24452809G>A Copied from the Exome Variant Server CABIN1_000079 5/13006 0/8600 5/4406
?/? c.1257G>A r.(=) p.(=) g.24452818G>A Copied from the Exome Variant Server CABIN1_000080 1/13006 0/8600 1/4406
?/? c.1262+10A>G r.(=) p.(=) g.24452833A>G Copied from the Exome Variant Server CABIN1_000081 48/13006 44/8600 4/4406
?/? c.1278C>A r.(?) p.(Asp426Glu) g.24455705C>A Copied from the Exome Variant Server CABIN1_000082 1/13006 1/8600 0/4406
?/? c.1355G>T r.(?) p.(Gly452Val) g.24455782G>T Copied from the Exome Variant Server CABIN1_000083 1/13006 1/8600 0/4406
?/? c.1399+5G>A r.spl? p.? g.24455831G>A Copied from the Exome Variant Server CABIN1_000084 1/13006 1/8600 0/4406
?/? c.1399+9C>T r.(=) p.(=) g.24455835C>T Copied from the Exome Variant Server CABIN1_000085 1/13006 1/8600 0/4406
?/? c.1400-28A>G r.(=) p.(=) g.24456359A>G Copied from the Exome Variant Server CABIN1_000086 26/13006 23/8600 3/4406
?/? c.1400-10C>T r.(=) p.(=) g.24456377C>T Copied from the Exome Variant Server CABIN1_000087 1/13006 0/8600 1/4406
?/? c.1434del r.(?) p.(Leu479*) g.24456421del Copied from the Exome Variant Server CABIN1_000088 43/12518 30/8254 13/4264
?/? c.1442A>G r.(?) p.(Asn481Ser) g.24456429A>G Copied from the Exome Variant Server CABIN1_000089 1/13006 1/8600 0/4406
?/? c.1443C>T r.(=) p.(=) g.24456430C>T Copied from the Exome Variant Server CABIN1_000090 2/13006 0/8600 2/4406
?/? c.1446G>A r.(=) p.(=) g.24456433G>A Copied from the Exome Variant Server CABIN1_000091 1/13006 1/8600 0/4406
?/? c.1486G>A r.(?) p.(Gly496Ser) g.24456473G>A Copied from the Exome Variant Server CABIN1_000092 27/13006 0/8600 27/4406
?/? c.1534C>T r.(?) p.(Leu512Phe) g.24456521C>T Copied from the Exome Variant Server CABIN1_000093 1/13006 1/8600 0/4406
?/? c.1583C>T r.(?) p.(Pro528Leu) g.24456570C>T Copied from the Exome Variant Server CABIN1_000094 1/13006 1/8600 0/4406
?/? c.1618-41del r.(=) p.(=) g.24458369del Copied from the Exome Variant Server CABIN1_000095 35/12518 21/8254 14/4264
?/? c.1618-36G>A r.(=) p.(=) g.24458374G>A Copied from the Exome Variant Server CABIN1_000096 1/13006 1/8600 0/4406
?/? c.1697-21C>T r.(=) p.(=) g.24459401C>T Copied from the Exome Variant Server CABIN1_000097 271/13006 4/8600 267/4406
?/? c.1702C>G r.(?) p.(Pro568Ala) g.24459427C>G Copied from the Exome Variant Server CABIN1_000098 1/13006 0/8600 1/4406
?/? c.1713T>C N/A N/A g.24459438T>C Copied from the Exome Variant Server CABIN1_000099 12424/13006 8064/8600 4360/4406
?/? c.1749C>T r.(=) p.(=) g.24459474C>T Copied from the Exome Variant Server CABIN1_000100 4/13006 0/8600 4/4406
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