Unique variants in gene LZTS2

Information The variants shown are described using the NM_032429.2 transcript reference sequence.

107 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.-40C>T r.(=) p.(=) g.102762256C>T Copied from the Exome Variant Server LZTS2_000001 4673/12850 4073/8510 600/4340
1 c.-33G>A r.(=) p.(=) g.102762263G>A Copied from the Exome Variant Server LZTS2_000002 1/12882 0/8524 1/4358
1 c.-20A>G r.(=) p.(=) g.102762276A>G Copied from the Exome Variant Server LZTS2_000003 18/12922 0/8550 18/4372
1 c.-7T>C r.(=) p.(=) g.102762289T>C Copied from the Exome Variant Server LZTS2_000004 1/12962 1/8576 0/4386
1 c.106C>T r.(?) p.(Arg36Trp) g.102762401C>T Copied from the Exome Variant Server LZTS2_000005 1/13006 1/8600 0/4406
1 c.118G>A r.(?) p.(Gly40Arg) g.102762413G>A Copied from the Exome Variant Server LZTS2_000006 4/13006 0/8600 4/4406
1 c.134C>T r.(?) p.(Pro45Leu) g.102762429C>T Copied from the Exome Variant Server LZTS2_000007 1/13004 1/8600 0/4404
1 c.136C>T r.(?) p.(Arg46Cys) g.102762431C>T Copied from the Exome Variant Server LZTS2_000008 9/13004 1/8600 8/4404
1 c.137G>A r.(?) p.(Arg46His) g.102762432G>A Copied from the Exome Variant Server LZTS2_000009 1/13004 1/8598 0/4406
1 c.144C>T r.(=) p.(=) g.102762439C>T Copied from the Exome Variant Server LZTS2_000010 24/13004 2/8598 22/4406
1 c.170G>A r.(?) p.(Arg57His) g.102762465G>A Copied from the Exome Variant Server LZTS2_000011 1/13006 1/8600 0/4406
1 c.172C>G r.(?) p.(Gln58Glu) g.102762467C>G Copied from the Exome Variant Server LZTS2_000012 1/13006 1/8600 0/4406
1 c.222C>T r.(=) p.(=) g.102762517C>T Copied from the Exome Variant Server LZTS2_000013 3/13004 0/8598 3/4406
1 c.249C>T r.(=) p.(=) g.102762544C>T Copied from the Exome Variant Server LZTS2_000014 21/13006 20/8600 1/4406
1 c.266C>T r.(?) p.(Thr89Ile) g.102762561C>T Copied from the Exome Variant Server LZTS2_000015 1/13006 1/8600 0/4406
1 c.269A>G r.(?) p.(Tyr90Cys) g.102762564A>G Copied from the Exome Variant Server LZTS2_000016 1/13006 0/8600 1/4406
1 c.286C>T r.(?) p.(Arg96Trp) g.102762581C>T Copied from the Exome Variant Server LZTS2_000017 5/13006 0/8600 5/4406
1 c.303C>T r.(=) p.(=) g.102762598C>T Copied from the Exome Variant Server LZTS2_000018 4/13006 3/8600 1/4406
1 c.352G>T r.(?) p.(Ala118Ser) g.102762647G>T Copied from the Exome Variant Server LZTS2_000019 1/13006 1/8600 0/4406
1 c.361C>T r.(?) p.(Arg121Cys) g.102762656C>T Copied from the Exome Variant Server LZTS2_000020 1/13006 1/8600 0/4406
1 c.362G>A r.(?) p.(Arg121His) g.102762657G>A Copied from the Exome Variant Server LZTS2_000021 1/13006 0/8600 1/4406
1 c.363C>T r.(=) p.(=) g.102762658C>T Copied from the Exome Variant Server LZTS2_000022 4/13006 2/8600 2/4406
1 c.408+9C>T r.(=) p.(=) g.102762712C>T Copied from the Exome Variant Server LZTS2_000023 1/13006 1/8600 0/4406
1 c.408+10G>A r.(=) p.(=) g.102762713G>A Copied from the Exome Variant Server LZTS2_000024 1/13006 0/8600 1/4406
1 c.408+48G>A r.(=) p.(=) g.102762751G>A Copied from the Exome Variant Server LZTS2_000025 17/12972 15/8588 2/4384
1 c.409-35G>A r.(=) p.(=) g.102763229G>A Copied from the Exome Variant Server LZTS2_000026 2/13006 2/8600 0/4406
1 c.409-20C>A r.(=) p.(=) g.102763244C>A Copied from the Exome Variant Server LZTS2_000027 1/13006 0/8600 1/4406
1 c.420G>C r.(?) p.(Lys140Asn) g.102763275G>C Copied from the Exome Variant Server LZTS2_000028 2/13006 2/8600 0/4406
1 c.430C>G r.(?) p.(Arg144Gly) g.102763285C>G Copied from the Exome Variant Server LZTS2_000029 1/13006 0/8600 1/4406
1 c.477G>A r.(=) p.(=) g.102763332G>A Copied from the Exome Variant Server LZTS2_000030 2/13006 1/8600 1/4406
1 c.487A>G r.(?) p.(Ser163Gly) g.102763342A>G Copied from the Exome Variant Server LZTS2_000031 1/13006 1/8600 0/4406
1 c.502C>T r.(?) p.(Arg168Trp) g.102763357C>T Copied from the Exome Variant Server LZTS2_000032 7/13006 1/8600 6/4406
1 c.511G>A r.(?) p.(Gly171Arg) g.102763366G>A Copied from the Exome Variant Server LZTS2_000033 2/13006 2/8600 0/4406
1 c.513G>C r.(=) p.(=) g.102763368G>C Copied from the Exome Variant Server LZTS2_000034 1/13006 1/8600 0/4406
1 c.522G>A r.(=) p.(=) g.102763377G>A Copied from the Exome Variant Server LZTS2_000035 1/13006 1/8600 0/4406
1 c.546G>A r.(=) p.(=) g.102763401G>A Copied from the Exome Variant Server LZTS2_000036 1/13006 1/8600 0/4406
1 c.560_562del r.(?) p.(Ser197del) g.102763415_102763417del Copied from the Exome Variant Server LZTS2_000037 29/12516 17/8252 12/4264
1 c.570C>T r.(=) p.(=) g.102763425C>T Copied from the Exome Variant Server LZTS2_000038 10/13006 10/8600 0/4406
1 c.622_623insG r.(?) p.(Ala209Glyfs*95) g.102763477_102763478insG Copied from the Exome Variant Server LZTS2_000039 721/12512 441/8248 280/4264
1 c.622_623insGG r.(?) p.(Ala209Glyfs*78) g.102763477_102763478insGG Copied from the Exome Variant Server LZTS2_000040 290/12512 194/8248 96/4264
1 c.654C>T r.(=) p.(=) g.102763509C>T Copied from the Exome Variant Server LZTS2_000042 9/13006 6/8600 3/4406
1 c.673C>G r.(?) p.(Leu225Val) g.102763528C>G Copied from the Exome Variant Server LZTS2_000044 1/13006 1/8600 0/4406
1 c.699C>T r.(=) p.(=) g.102763554C>T Copied from the Exome Variant Server LZTS2_000041 12/12972 11/8572 1/4400
1 c.708C>T r.(=) p.(=) g.102763563C>T Copied from the Exome Variant Server LZTS2_000043 1/12968 1/8574 0/4394
1 c.733G>A r.(?) p.(Gly245Arg) g.102763588G>A Copied from the Exome Variant Server LZTS2_000045 1/12992 1/8594 0/4398
1 c.826_828del r.(?) p.(Ser279del) g.102763681_102763683del Copied from the Exome Variant Server LZTS2_000046 4/12480 4/8240 0/4240
1 c.880T>C r.(=) p.(=) g.102763735T>C Copied from the Exome Variant Server LZTS2_000047 3/13006 3/8600 0/4406
1 c.895C>T r.(?) p.(Arg299Trp) g.102763750C>T Copied from the Exome Variant Server LZTS2_000048 2/13006 0/8600 2/4406
1 c.906T>C r.(=) p.(=) g.102763761T>C Copied from the Exome Variant Server LZTS2_000049 291/13006 12/8600 279/4406
1 c.928C>T r.(?) p.(Arg310Cys) g.102763783C>T Copied from the Exome Variant Server LZTS2_000050 1/13004 0/8598 1/4406
1 c.947C>A r.(?) p.(Pro316His) g.102763802C>A Copied from the Exome Variant Server LZTS2_000051 1/12988 0/8590 1/4398
1 c.952C>T r.(?) p.(Pro318Ser) g.102763807C>T Copied from the Exome Variant Server LZTS2_000052 1/13000 0/8596 1/4404
1 c.1054G>A r.(?) p.(Ala352Thr) g.102763909G>A Copied from the Exome Variant Server LZTS2_000053 5/12924 5/8548 0/4376
1 c.1069-51T>A r.(=) p.(=) g.102765164T>A Copied from the Exome Variant Server LZTS2_000054 2/12686 2/8382 0/4304
1 c.1069-25G>A r.(=) p.(=) g.102765190G>A Copied from the Exome Variant Server LZTS2_000055 45/12846 0/8492 45/4354
1 c.1069-8G>A r.(=) p.(=) g.102765207G>A Copied from the Exome Variant Server LZTS2_000056 13/12858 0/8512 13/4346
1 c.1082G>A r.(?) p.(Arg361Gln) g.102765228G>A Copied from the Exome Variant Server LZTS2_000057 2/12860 2/8516 0/4344
1 c.1106G>A r.(?) p.(Arg369His) g.102765252G>A Copied from the Exome Variant Server LZTS2_000058 3/12958 0/8566 3/4392
1 c.1111G>A r.(?) p.(Ala371Thr) g.102765257G>A Copied from the Exome Variant Server LZTS2_000059 2/12972 2/8580 0/4392
1 c.1112C>A r.(?) p.(Ala371Asp) g.102765258C>A Copied from the Exome Variant Server LZTS2_000060 1/12972 1/8580 0/4392
1 c.1130C>T r.(?) p.(Ala377Val) g.102765276C>T Copied from the Exome Variant Server LZTS2_000061 1/12960 0/8564 1/4396
1 c.1135_1143del r.(?) p.(Gln379_Gln381del) g.102765281_102765289del Copied from the Exome Variant Server LZTS2_000062 54/12452 37/8204 17/4248
1 c.1144C>T r.(?) p.(Arg382Trp) g.102765290C>T Copied from the Exome Variant Server LZTS2_000063 1/12938 1/8558 0/4380
1 c.1153C>T r.(?) p.(Arg385Trp) g.102765299C>T Copied from the Exome Variant Server LZTS2_000064 1/12904 1/8530 0/4374
1 c.1204C>T r.(?) p.(Arg402Trp) g.102765350C>T Copied from the Exome Variant Server LZTS2_000065 2/12922 0/8544 2/4378
1 c.1205G>A r.(?) p.(Arg402Gln) g.102765351G>A Copied from the Exome Variant Server LZTS2_000066 1/12926 1/8546 0/4380
1 c.1218C>T r.(=) p.(=) g.102765364C>T Copied from the Exome Variant Server LZTS2_000067 1/12952 1/8564 0/4388
1 c.1229A>G r.(?) p.(Gln410Arg) g.102765375A>G Copied from the Exome Variant Server LZTS2_000068 1/12944 1/8564 0/4380
1 c.1266C>T r.(=) p.(=) g.102765412C>T Copied from the Exome Variant Server LZTS2_000069 2/12756 0/8430 2/4326
1 c.1267G>A r.(?) p.(Ala423Thr) g.102765413G>A Copied from the Exome Variant Server LZTS2_000070 1/12730 1/8410 0/4320
1 c.1326+39_1326+40del r.(=) p.(=) g.102765511_102765512del Copied from the Exome Variant Server LZTS2_000071 658/10974 589/7284 69/3690
1 c.1327-7C>T r.(=) p.(=) g.102766235C>T Copied from the Exome Variant Server LZTS2_000072 1/12982 1/8586 0/4396
1 c.1336A>C r.(?) p.(Lys446Gln) g.102766251A>C Copied from the Exome Variant Server LZTS2_000073 2/12996 2/8592 0/4404
1 c.1373A>G r.(?) p.(Lys458Arg) g.102766288A>G Copied from the Exome Variant Server LZTS2_000074 16/13006 16/8600 0/4406
1 c.1402G>A r.(?) p.(Gly468Ser) g.102766317G>A Copied from the Exome Variant Server LZTS2_000075 1/13000 1/8600 0/4400
1 c.1424G>A r.(?) p.(Arg475Gln) g.102766339G>A Copied from the Exome Variant Server LZTS2_000076 1/13004 1/8600 0/4404
1 c.1431G>A r.(=) p.(=) g.102766346G>A Copied from the Exome Variant Server LZTS2_000077 1/13002 1/8600 0/4402
1 c.1435C>T r.(?) p.(Arg479Trp) g.102766350C>T Copied from the Exome Variant Server LZTS2_000078 2/13000 0/8600 2/4400
1 c.1449T>G r.(=) p.(=) g.102766364T>G Copied from the Exome Variant Server LZTS2_000079 24/12990 0/8594 24/4396
1 c.1452G>A r.(=) p.(=) g.102766367G>A Copied from the Exome Variant Server LZTS2_000080 1/12988 1/8592 0/4396
1 c.1463G>T r.(?) p.(Ser488Ile) g.102766378G>T Copied from the Exome Variant Server LZTS2_000081 1/12980 1/8590 0/4390
1 c.1472G>A r.(?) p.(Arg491His) g.102766387G>A Copied from the Exome Variant Server LZTS2_000082 1/12964 1/8580 0/4384
1 c.1478G>A r.(?) p.(Arg493Gln) g.102766393G>A Copied from the Exome Variant Server LZTS2_000083 1/12934 0/8556 1/4378
1 c.1494C>T r.(=) p.(=) g.102766409C>T Copied from the Exome Variant Server LZTS2_000084 80/12882 72/8528 8/4354
1 c.1499G>A r.(?) p.(Arg500Gln) g.102766414G>A Copied from the Exome Variant Server LZTS2_000085 2/12896 0/8534 2/4362
1 c.1502C>G r.(?) p.(Ala501Gly) g.102766417C>G Copied from the Exome Variant Server LZTS2_000086 1/12890 1/8528 0/4362
1 c.1550G>A r.(?) p.(Arg517His) g.102766465G>A Copied from the Exome Variant Server LZTS2_000087 1/12960 1/8580 0/4380
1 c.1586A>G r.(?) p.(Gln529Arg) g.102766501A>G Copied from the Exome Variant Server LZTS2_000088 1/12974 1/8584 0/4390
1 c.1590G>A r.(=) p.(=) g.102766505G>A Copied from the Exome Variant Server LZTS2_000090 18/12976 17/8586 1/4390
1 c.1606G>A r.(?) p.(Gly536Arg) g.102766521G>A Copied from the Exome Variant Server LZTS2_000091 1/12954 1/8568 0/4386
1 c.1617G>A r.(=) p.(=) g.102766532G>A Copied from the Exome Variant Server LZTS2_000093 1/12934 1/8566 0/4368
1 c.1619C>A r.(?) p.(Pro540His) g.102766534C>A Copied from the Exome Variant Server LZTS2_000095 1/12944 1/8568 0/4376
1 c.1659A>G r.(=) p.(=) g.102766574A>G Copied from the Exome Variant Server LZTS2_000089 3544/12956 2083/8570 1461/4386
1 c.1692A>T r.(=) p.(=) g.102766607A>T Copied from the Exome Variant Server LZTS2_000092 1/12860 1/8534 0/4326
1 c.1693G>T r.(?) p.(Ala565Ser) g.102766608G>T Copied from the Exome Variant Server LZTS2_000094 1/12848 1/8524 0/4324
1 c.1694_1695insGG r.(?) p.(Gly566Alafs*46) g.102766609_102766610insGG Copied from the Exome Variant Server LZTS2_000096 53/12328 23/8158 30/4170
1 c.1730G>A r.(?) p.(Arg577Gln) g.102766645G>A Copied from the Exome Variant Server LZTS2_000097 3/12710 3/8414 0/4296
1 c.1751G>A r.(?) p.(Arg584Gln) g.102766666G>A Copied from the Exome Variant Server LZTS2_000098 1/12586 0/8340 1/4246
1 c.1759C>T r.(?) p.(Arg587Trp) g.102766674C>T Copied from the Exome Variant Server LZTS2_000099 4/12522 2/8298 2/4224
1 c.1777C>T r.(?) p.(Arg593Trp) g.102766692C>T Copied from the Exome Variant Server LZTS2_000100 4/12436 4/8274 0/4162
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