Unique variants in gene PLS3

Information The variants shown are described using the NM_001136025.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-8-20C>T r.(=) p.(=) g.114844535C>T Copied from the Exome Variant Server PLS3_000001 451/10562 2/6727 449/3835
1 c.-8-19_-8-18insT r.(=) p.(=) g.114844536_114844537insT Copied from the Exome Variant Server PLS3_000002 22/10201 13/6482 9/3719
1 c.73+48_73+60del r.(=) p.(=) g.114844683_114844695del Copied from the Exome Variant Server PLS3_000003 1/10199 1/6480 0/3719
1 c.74-50C>A r.(=) p.(=) g.114856508C>A Copied from the Exome Variant Server PLS3_000004 553/10556 3/6726 550/3830
1 c.74-30C>G r.(=) p.(=) g.114856528C>G Copied from the Exome Variant Server PLS3_000005 4/10562 0/6728 4/3834
1 c.74-25T>A r.(=) p.(=) g.114856533T>A Copied from the Exome Variant Server PLS3_000006 1/10563 1/6728 0/3835
1 c.75T>C r.(=) p.(=) g.114856559T>C Copied from the Exome Variant Server PLS3_000007 1/10562 0/6727 1/3835
1 c.86A>G r.(?) p.(Asn29Ser) g.114856570A>G Copied from the Exome Variant Server PLS3_000008 1/10563 0/6728 1/3835
1 c.194A>C r.(?) p.(Asp65Ala) g.114856678A>C Copied from the Exome Variant Server PLS3_000009 1/10563 0/6728 1/3835
1 c.209G>A r.(?) p.(Gly70Glu) g.114856693G>A Copied from the Exome Variant Server PLS3_000010 1/10563 1/6728 0/3835
1 c.225C>T r.(=) p.(=) g.114856709C>T Copied from the Exome Variant Server PLS3_000011 4/10563 0/6728 4/3835
1 c.237+18C>A r.(=) p.(=) g.114856739C>A Copied from the Exome Variant Server PLS3_000012 90/10562 0/6727 90/3835
1 c.321T>A r.(=) p.(=) g.114863593T>A Copied from the Exome Variant Server PLS3_000013 109/10563 99/6728 10/3835
1 c.324A>G r.(=) p.(=) g.114863596A>G Copied from the Exome Variant Server PLS3_000014 1/10563 1/6728 0/3835
1 c.363C>T r.(=) p.(=) g.114863635C>T Copied from the Exome Variant Server PLS3_000015 1/10563 1/6728 0/3835
1 c.367+11T>C r.(=) p.(=) g.114863650T>C Copied from the Exome Variant Server PLS3_000016 282/10563 1/6728 281/3835
1 c.436G>A r.(?) p.(Val146Ile) g.114864215G>A Copied from the Exome Variant Server PLS3_000017 1/10563 0/6728 1/3835
1 c.468G>C r.(=) p.(=) g.114864247G>C Copied from the Exome Variant Server PLS3_000018 5/10562 0/6727 5/3835
1 c.471C>T r.(=) p.(=) g.114864250C>T Copied from the Exome Variant Server PLS3_000019 10/10562 10/6727 0/3835
1 c.500+7T>C r.(=) p.(=) g.114864286T>C Copied from the Exome Variant Server PLS3_000020 1/10563 1/6728 0/3835
1 c.500+9T>A r.(=) p.(=) g.114864288T>A Copied from the Exome Variant Server PLS3_000022 1/10563 0/6728 1/3835
1 c.500+19T>C r.(=) p.(=) g.114864298T>C Copied from the Exome Variant Server PLS3_000024 3/10563 2/6728 1/3835
1 c.501-41_501-40insT r.(=) p.(=) g.114868271_114868272insT Copied from the Exome Variant Server PLS3_000026 33/10193 21/6480 12/3713
1 c.582+8T>G r.(=) p.(=) g.114868401T>G Copied from the Exome Variant Server PLS3_000028 9/10563 0/6728 9/3835
1 c.583-23T>C r.(=) p.(=) g.114869170T>C Copied from the Exome Variant Server PLS3_000030 1/10563 1/6728 0/3835
1 c.640A>G r.(?) p.(Ile214Val) g.114869250A>G Copied from the Exome Variant Server PLS3_000021 1/10563 1/6728 0/3835
1 c.688C>T r.(=) p.(=) g.114869298C>T Copied from the Exome Variant Server PLS3_000023 1/10563 0/6728 1/3835
1 c.722C>T r.(?) p.(Ala241Val) g.114869332C>T Copied from the Exome Variant Server PLS3_000025 1/10563 1/6728 0/3835
1 c.749-25T>C r.(=) p.(=) g.114871123T>C Copied from the Exome Variant Server PLS3_000027 253/10558 230/6724 23/3834
1 c.749-10T>C r.(=) p.(=) g.114871138T>C Copied from the Exome Variant Server PLS3_000029 1/10561 1/6726 0/3835
1 c.750C>G r.(=) p.(=) g.114871149C>G Copied from the Exome Variant Server PLS3_000031 1/10563 0/6728 1/3835
1 c.877A>G r.(?) p.(Ser293Gly) g.114871276A>G Copied from the Exome Variant Server PLS3_000032 1/10563 0/6728 1/3835
1 c.891+20C>T r.(=) p.(=) g.114871310C>T Copied from the Exome Variant Server PLS3_000033 2/10563 0/6728 2/3835
1 c.891+37A>G r.(=) p.(=) g.114871327A>G Copied from the Exome Variant Server PLS3_000034 1/10563 1/6728 0/3835
1 c.891+47G>A r.(=) p.(=) g.114871337G>A Copied from the Exome Variant Server PLS3_000035 3/10559 2/6728 1/3831
1 c.925A>G r.(?) p.(Ile309Val) g.114874753A>G Copied from the Exome Variant Server PLS3_000036 13/10563 13/6728 0/3835
1 c.958C>T r.(?) p.(Arg320Trp) g.114874786C>T Copied from the Exome Variant Server PLS3_000037 1/10563 1/6728 0/3835
1 c.974T>C r.(?) p.(Met325Thr) g.114874802T>C Copied from the Exome Variant Server PLS3_000038 2/10563 2/6728 0/3835
1 c.1050A>G r.(=) p.(=) g.114877687A>G Copied from the Exome Variant Server PLS3_000039 3/10563 0/6728 3/3835
1 c.1101A>G r.(=) p.(=) g.114877738A>G Copied from the Exome Variant Server PLS3_000040 2/10563 2/6728 0/3835
1 c.1183+36A>G r.(=) p.(=) g.114877856A>G Copied from the Exome Variant Server PLS3_000041 1/10562 0/6727 1/3835
1 c.1184-30A>G r.(=) p.(=) g.114879311A>G Copied from the Exome Variant Server PLS3_000042 1/10563 1/6728 0/3835
1 c.1184-29T>C r.(=) p.(=) g.114879312T>C Copied from the Exome Variant Server PLS3_000043 1/10563 0/6728 1/3835
1 c.1192C>T r.(?) p.(Arg398Cys) g.114879349C>T Copied from the Exome Variant Server PLS3_000044 1/10563 1/6728 0/3835
1 c.1194T>C r.(=) p.(=) g.114879351T>C Copied from the Exome Variant Server PLS3_000045 1/10563 1/6728 0/3835
1 c.1242T>C r.(=) p.(=) g.114879399T>C Copied from the Exome Variant Server PLS3_000046 1436/10563 226/6728 1210/3835
1 c.1245C>T r.(=) p.(=) g.114879402C>T Copied from the Exome Variant Server PLS3_000048 1/10563 0/6728 1/3835
1 c.1262C>T r.(?) p.(Ala421Val) g.114879419C>T Copied from the Exome Variant Server PLS3_000050 1/10563 1/6728 0/3835
1 c.1262+28A>G r.(=) p.(=) g.114879447A>G Copied from the Exome Variant Server PLS3_000052 1/10563 1/6728 0/3835
1 c.1262+34G>T r.(=) p.(=) g.114879453G>T Copied from the Exome Variant Server PLS3_000054 1/10563 1/6728 0/3835
1 c.1263-27_1263-26insT r.(=) p.(=) g.114880365_114880366insT Copied from the Exome Variant Server PLS3_000047 2/10204 0/6483 2/3721
1 c.1275T>C r.(=) p.(=) g.114880404T>C Copied from the Exome Variant Server PLS3_000049 5/10562 5/6727 0/3835
1 c.1294T>C r.(=) p.(=) g.114880423T>C Copied from the Exome Variant Server PLS3_000051 1180/10563 226/6728 954/3835
1 c.1377+17C>T r.(=) p.(=) g.114880523C>T Copied from the Exome Variant Server PLS3_000053 1800/10556 225/6723 1575/3833
1 c.1378-49A>G r.(=) p.(=) g.114880673A>G Copied from the Exome Variant Server PLS3_000055 45/10563 42/6728 3/3835
1 c.1378-41C>T r.(=) p.(=) g.114880681C>T Copied from the Exome Variant Server PLS3_000056 1/10563 0/6728 1/3835
1 c.1378-30C>A r.(=) p.(=) g.114880692C>A Copied from the Exome Variant Server PLS3_000057 1/10563 1/6728 0/3835
1 c.1380A>G r.(=) p.(=) g.114880724A>G Copied from the Exome Variant Server PLS3_000058 6/10563 0/6728 6/3835
1 c.1419T>C r.(=) p.(=) g.114880763T>C Copied from the Exome Variant Server PLS3_000059 1/10563 1/6728 0/3835
1 c.1476C>G r.(=) p.(=) g.114880820C>G Copied from the Exome Variant Server PLS3_000060 9/10563 9/6728 0/3835
1 c.1512-30G>A r.(=) p.(=) g.114881840G>A Copied from the Exome Variant Server PLS3_000061 1/10563 0/6728 1/3835
1 c.1512-24G>A r.(=) p.(=) g.114881846G>A Copied from the Exome Variant Server PLS3_000062 1/10563 1/6728 0/3835
1 c.1518C>A r.(=) p.(=) g.114881876C>A Copied from the Exome Variant Server PLS3_000063 2/10563 0/6728 2/3835
1 c.1545T>C r.(=) p.(=) g.114881903T>C Copied from the Exome Variant Server PLS3_000064 2/10563 2/6728 0/3835
1 c.1596G>A r.(=) p.(=) g.114881954G>A Copied from the Exome Variant Server PLS3_000065 1/10563 0/6728 1/3835
1 c.1598G>A r.(?) p.(Ser533Asn) g.114881956G>A Copied from the Exome Variant Server PLS3_000066 1/10563 1/6728 0/3835
1 c.1615A>G r.(?) p.(Thr539Ala) g.114881973A>G Copied from the Exome Variant Server PLS3_000067 1/10563 1/6728 0/3835
1 c.1635+44A>G r.(=) p.(=) g.114882037A>G Copied from the Exome Variant Server PLS3_000068 1/10563 0/6728 1/3835
1 c.1635+51A>G r.(=) p.(=) g.114882044A>G Copied from the Exome Variant Server PLS3_000069 1/10561 1/6728 0/3833
1 c.1636-7A>G r.(=) p.(=) g.114882206A>G Copied from the Exome Variant Server PLS3_000070 1/10563 0/6728 1/3835
1 c.1740T>C r.(=) p.(=) g.114882317T>C Copied from the Exome Variant Server PLS3_000071 1/10563 1/6728 0/3835
1 c.1760+8A>G r.(=) p.(=) g.114882345A>G Copied from the Exome Variant Server PLS3_000072 1/10563 0/6728 1/3835
1 c.1760+51A>G r.(=) p.(=) g.114882388A>G Copied from the Exome Variant Server PLS3_000073 25/10563 0/6728 25/3835
1 c.1761-16T>C r.(=) p.(=) g.114883733T>C Copied from the Exome Variant Server PLS3_000074 2/10563 0/6728 2/3835
1 c.1892A>G r.(=) p.(=) g.114883880A>G Copied from the Exome Variant Server PLS3_000075 2/10563 0/6728 2/3835
1 c.*40A>G r.(=) p.(=) g.114883921A>G Copied from the Exome Variant Server PLS3_000076 1/10563 1/6728 0/3835
1 c.*51G>A r.(=) p.(=) g.114883932G>A Copied from the Exome Variant Server PLS3_000077 5/10563 3/6728 2/3835
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