Unique variants in gene GAS2L1

Information The variants shown are described using the NM_006478.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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.-43C>A r.(=) p.(=) g.29704053C>A Copied from the Exome Variant Server GAS2L1_000001 1/12888 1/8526 0/4362
1 c.-40G>C r.(=) p.(=) g.29704056G>C Copied from the Exome Variant Server GAS2L1_000002 3/12904 0/8530 3/4374
1 c.-5C>G r.(=) p.(=) g.29704091C>G Copied from the Exome Variant Server GAS2L1_000003 6/12898 4/8540 2/4358
1 c.30C>T r.(=) p.(=) g.29704125C>T Copied from the Exome Variant Server GAS2L1_000004 4163/12962 3271/8574 892/4388
1 c.36G>A r.(=) p.(=) g.29704131G>A Copied from the Exome Variant Server GAS2L1_000005 3/12984 3/8592 0/4392
1 c.58C>A r.(?) p.(Arg20Ser) g.29704153C>A Copied from the Exome Variant Server GAS2L1_000006 1/12994 1/8598 0/4396
1 c.68A>G r.(?) p.(Glu23Gly) g.29704163A>G Copied from the Exome Variant Server GAS2L1_000007 1/12998 0/8596 1/4402
1 c.69G>A r.(=) p.(=) g.29704164G>A Copied from the Exome Variant Server GAS2L1_000008 3/12998 3/8596 0/4402
1 c.174G>A r.(=) p.(=) g.29704269G>A Copied from the Exome Variant Server GAS2L1_000009 6/12990 0/8594 6/4396
1 c.256G>A r.(?) p.(Ala86Thr) g.29704351G>A Copied from the Exome Variant Server GAS2L1_000010 1/12990 1/8594 0/4396
1 c.266C>G r.(?) p.(Ala89Gly) g.29704361C>G Copied from the Exome Variant Server GAS2L1_000011 5/12998 5/8600 0/4398
1 c.314C>T r.(?) p.(Thr105Ile) g.29704409C>T Copied from the Exome Variant Server GAS2L1_000012 1/13000 1/8600 0/4400
1 c.321C>T r.(=) p.(=) g.29704416C>T Copied from the Exome Variant Server GAS2L1_000013 2/12996 0/8596 2/4400
1 c.351G>A r.(=) p.(=) g.29704446G>A Copied from the Exome Variant Server GAS2L1_000014 1/12996 1/8598 0/4398
1 c.371C>T r.(?) p.(Thr124Ile) g.29704466C>T Copied from the Exome Variant Server GAS2L1_000015 1/12996 0/8598 1/4398
1 c.429G>A r.(=) p.(=) g.29704524G>A Copied from the Exome Variant Server GAS2L1_000016 9/12990 0/8594 9/4396
1 c.502C>A r.(?) p.(Leu168Met) g.29704597C>A Copied from the Exome Variant Server GAS2L1_000017 1/12970 0/8588 1/4382
1 c.504G>T r.(=) p.(=) g.29704599G>T Copied from the Exome Variant Server GAS2L1_000018 13/12970 1/8588 12/4382
1 c.523C>G r.(?) p.(Pro175Ala) g.29704618C>G Copied from the Exome Variant Server GAS2L1_000019 2/12950 2/8576 0/4374
1 c.532C>T r.(?) p.(Pro178Ser) g.29704627C>T Copied from the Exome Variant Server GAS2L1_000020 46/12932 45/8574 1/4358
1 c.567C>G r.(=) p.(=) g.29704662C>G Copied from the Exome Variant Server GAS2L1_000021 557/12844 506/8506 51/4338
1 c.603A>T r.(=) p.(=) g.29704698A>T Copied from the Exome Variant Server GAS2L1_000022 1/12794 0/8484 1/4310
1 c.605C>T r.(?) p.(Pro202Leu) g.29704700C>T Copied from the Exome Variant Server GAS2L1_000023 1/12782 1/8480 0/4302
1 c.633+32C>T r.(=) p.(=) g.29704760C>T Copied from the Exome Variant Server GAS2L1_000024 3/11902 0/7922 3/3980
1 c.634-27_634-26insC r.(=) p.(=) g.29706402_29706403insC Copied from the Exome Variant Server GAS2L1_000025 1/12518 0/8254 1/4264
1 c.634-12C>T r.(=) p.(=) g.29706417C>T Copied from the Exome Variant Server GAS2L1_000026 7/13006 0/8600 7/4406
1 c.671A>G r.(?) p.(Gln224Arg) g.29706466A>G Copied from the Exome Variant Server GAS2L1_000027 2/13006 1/8600 1/4406
1 c.719C>G r.(?) p.(Ser240Trp) g.29706514C>G Copied from the Exome Variant Server GAS2L1_000028 3/13006 3/8600 0/4406
1 c.720G>T r.(=) p.(=) g.29706515G>T Copied from the Exome Variant Server GAS2L1_000029 1/13006 1/8600 0/4406
1 c.735T>C r.(=) p.(=) g.29706530T>C Copied from the Exome Variant Server GAS2L1_000030 1/13006 1/8600 0/4406
1 c.739C>T r.(?) p.(Arg247Trp) g.29706534C>T Copied from the Exome Variant Server GAS2L1_000031 1/13006 1/8600 0/4406
1 c.741+8C>T r.(=) p.(=) g.29706544C>T Copied from the Exome Variant Server GAS2L1_000032 1/13006 1/8600 0/4406
1 c.741+14G>A r.(=) p.(=) g.29706550G>A Copied from the Exome Variant Server GAS2L1_000033 4/13006 4/8600 0/4406
1 c.741+16C>T r.(=) p.(=) g.29706552C>T Copied from the Exome Variant Server GAS2L1_000034 1/13006 1/8600 0/4406
1 c.741+24C>T r.(=) p.(=) g.29706560C>T Copied from the Exome Variant Server GAS2L1_000035 765/13006 293/8600 472/4406
1 c.741+45G>T r.(=) p.(=) g.29706581G>T Copied from the Exome Variant Server GAS2L1_000036 1/13000 1/8596 0/4404
1 c.742-32G>A r.(=) p.(=) g.29706596G>A Copied from the Exome Variant Server GAS2L1_000037 1/12984 0/8588 1/4396
1 c.742-21G>A r.(=) p.(=) g.29706607G>A Copied from the Exome Variant Server GAS2L1_000038 2/12978 2/8582 0/4396
1 c.742-13C>A r.(=) p.(=) g.29706615C>A Copied from the Exome Variant Server GAS2L1_000039 1/12966 1/8574 0/4392
1 c.813C>T r.(=) p.(=) g.29706699C>T Copied from the Exome Variant Server GAS2L1_000040 2/13006 2/8600 0/4406
1 c.838+10A>G r.(=) p.(=) g.29706734A>G Copied from the Exome Variant Server GAS2L1_000041 4/13004 1/8598 3/4406
1 c.838+28G>C r.(=) p.(=) g.29706752G>C Copied from the Exome Variant Server GAS2L1_000042 1/13006 0/8600 1/4406
1 c.838+31G>C r.(=) p.(=) g.29706755G>C Copied from the Exome Variant Server GAS2L1_000043 2/13006 0/8600 2/4406
1 c.839-41G>A r.(=) p.(=) g.29706776G>A Copied from the Exome Variant Server GAS2L1_000044 1/13006 0/8600 1/4406
1 c.839-33C>T r.(=) p.(=) g.29706784C>T Copied from the Exome Variant Server GAS2L1_000045 24/13006 0/8600 24/4406
1 c.839-21_839-20insCCTGT r.(=) p.(=) g.29706796_29706797insCCTGT Copied from the Exome Variant Server GAS2L1_000046 3/12518 0/8254 3/4264
1 c.839-5C>T r.spl? p.? g.29706812C>T Copied from the Exome Variant Server GAS2L1_000047 2/13006 0/8600 2/4406
1 c.839-3C>A r.spl? p.? g.29706814C>A Copied from the Exome Variant Server GAS2L1_000048 1/13006 0/8600 1/4406
1 c.897C>T r.(=) p.(=) g.29706875C>T Copied from the Exome Variant Server GAS2L1_000049 1/13006 1/8600 0/4406
1 c.907C>T r.(?) p.(Arg303Cys) g.29706885C>T Copied from the Exome Variant Server GAS2L1_000050 34/13006 0/8600 34/4406
1 c.910C>T r.(?) p.(Pro304Ser) g.29706888C>T Copied from the Exome Variant Server GAS2L1_000051 1/13006 1/8600 0/4406
1 c.913G>C r.(?) p.(Ala305Pro) g.29706891G>C Copied from the Exome Variant Server GAS2L1_000052 1/13006 1/8600 0/4406
1 c.924C>A r.(=) p.(=) g.29706902C>A Copied from the Exome Variant Server GAS2L1_000053 1/13006 1/8600 0/4406
1 c.940C>T r.(?) p.(Arg314Trp) g.29706918C>T Copied from the Exome Variant Server GAS2L1_000054 1/13006 1/8600 0/4406
1 c.941G>A r.(?) p.(Arg314Gln) g.29706919G>A Copied from the Exome Variant Server GAS2L1_000055 54/13006 2/8600 52/4406
1 c.949C>G r.(?) p.(Arg317Gly) g.29706927C>G Copied from the Exome Variant Server GAS2L1_000056 159/13006 1/8600 158/4406
1 c.966C>T r.(=) p.(=) g.29706944C>T Copied from the Exome Variant Server GAS2L1_000057 1/13004 0/8598 1/4406
1 c.976C>G r.(?) p.(Arg326Gly) g.29706954C>G Copied from the Exome Variant Server GAS2L1_000058 1/13000 1/8596 0/4404
1 c.1010+39_1010+40insT r.(=) p.(=) g.29707027_29707028insT Copied from the Exome Variant Server GAS2L1_000059 12/12156 11/8014 1/4142
1 c.1010+54C>T r.(=) p.(=) g.29707042C>T Copied from the Exome Variant Server GAS2L1_000060 1/12760 1/8424 0/4336
1 c.1027del r.(?) p.(His345Ilefs*43) g.29707468del Copied from the Exome Variant Server GAS2L1_000061 12/7380 7/5136 5/2244
1 c.1198_1199insC r.(?) p.(Leu401Profs*133) g.29707639_29707640insC Copied from the Exome Variant Server GAS2L1_000062 4647/4686 3318/3348 1329/1338
1 c.1307C>T N/A N/A g.29707748C>T Copied from the Exome Variant Server GAS2L1_000063 6/9898 6/6806 0/3092
1 c.1365T>A N/A N/A g.29707806T>A Copied from the Exome Variant Server GAS2L1_000064 2/11190 0/7644 2/3546
1 c.1386G>A r.(=) p.(=) g.29707827G>A Copied from the Exome Variant Server GAS2L1_000065 419/11164 385/7638 34/3526
1 c.1396G>A r.(?) p.(Gly466Ser) g.29707837G>A Copied from the Exome Variant Server GAS2L1_000066 76/11250 0/7672 76/3578
1 c.1404A>G N/A N/A g.29707845A>G Copied from the Exome Variant Server GAS2L1_000067 1/11546 0/7802 1/3744
1 c.1450G>A N/A N/A g.29707891G>A Copied from the Exome Variant Server GAS2L1_000068 1/12074 1/8128 0/3946
1 c.1453T>G N/A N/A g.29707894T>G Copied from the Exome Variant Server GAS2L1_000069 1/12098 1/8142 0/3956
1 c.1462T>G N/A N/A g.29707903T>G Copied from the Exome Variant Server GAS2L1_000070 1/12236 0/8204 1/4032
1 c.1467A>G N/A N/A g.29707908A>G Copied from the Exome Variant Server GAS2L1_000071 67/12262 65/8222 2/4040
1 c.1487C>T N/A N/A g.29707928C>T Copied from the Exome Variant Server GAS2L1_000072 1/12476 0/8348 1/4128
1 c.1489C>A N/A N/A g.29707930C>A Copied from the Exome Variant Server GAS2L1_000073 1/12508 0/8370 1/4138
1 c.1495C>A r.(?) p.(Pro499Thr) g.29707936C>A Copied from the Exome Variant Server GAS2L1_000074 1/12490 0/8368 1/4122
1 c.1514A>T N/A N/A g.29707955A>T Copied from the Exome Variant Server GAS2L1_000075 1372/12574 1249/8404 123/4170
1 c.1634T>C N/A N/A g.29708075T>C Copied from the Exome Variant Server GAS2L1_000076 6/12354 4/8310 2/4044
1 c.1789C>G N/A N/A g.29708230C>G Copied from the Exome Variant Server GAS2L1_000077 3/12086 0/8218 3/3868
1 c.1791C>T r.(=) p.(=) g.29708232C>T Copied from the Exome Variant Server GAS2L1_000078 1/12084 1/8220 0/3864
1 c.1832del r.(?) p.(Met611Argfs*5) g.29708273del Copied from the Exome Variant Server GAS2L1_000079 36/11522 29/7868 7/3654
1 c.1853T>C N/A N/A g.29708294T>C Copied from the Exome Variant Server GAS2L1_000080 1/12146 1/8256 0/3890
1 c.1879C>T r.(?) p.(Pro627Ser) g.29708320C>T Copied from the Exome Variant Server GAS2L1_000081 40/12222 37/8280 3/3942
1 c.1914C>T N/A N/A g.29708355C>T Copied from the Exome Variant Server GAS2L1_000082 1/12294 0/8310 1/3984
1 c.1930C>T r.(?) p.(Pro644Ser) g.29708371C>T Copied from the Exome Variant Server GAS2L1_000083 1/12242 1/8292 0/3950
1 c.1940C>T N/A N/A g.29708381C>T Copied from the Exome Variant Server GAS2L1_000084 1/12240 1/8294 0/3946
1 c.*11C>T r.(=) p.(=) g.29708497C>T Copied from the Exome Variant Server GAS2L1_000085 9/12346 8/8348 1/3998
1 c.*38C>T r.(=) p.(=) g.29708524C>T Copied from the Exome Variant Server GAS2L1_000086 12/12224 3/8300 9/3924
Legend