All transcript variants in gene PLAA

Information The variants shown are described using the NM_001031689.2 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48C>G r.(=) p.(=) g.26947091G>C Copied from the Exome Variant Server PLAA_000145 1/12664 1/8384 0/4280
?/? c.-15A>G r.(=) p.(=) g.26947058T>C Copied from the Exome Variant Server PLAA_000144 9/12882 0/8518 9/4364
?/? c.46G>A r.(?) p.(Gly16Ser) g.26946998C>T Copied from the Exome Variant Server PLAA_000143 1/12938 0/8560 1/4378
?/? c.72G>C r.(=) p.(=) g.26946972C>G Copied from the Exome Variant Server PLAA_000142 1/12948 0/8568 1/4380
?/? c.78C>T r.(=) p.(=) g.26946966G>A Copied from the Exome Variant Server PLAA_000141 1/12942 0/8572 1/4370
?/? c.99C>G r.(=) p.(=) g.26946945G>C Copied from the Exome Variant Server PLAA_000140 1/12938 1/8572 0/4366
?/? c.149+33G>A r.(=) p.(=) g.26946862C>T Copied from the Exome Variant Server PLAA_000139 1/12860 1/8520 0/4340
?/? c.150-26A>G r.(=) p.(=) g.26935230T>C Copied from the Exome Variant Server PLAA_000138 2/13006 2/8600 0/4406
?/? c.150-24C>T r.(=) p.(=) g.26935228G>A Copied from the Exome Variant Server PLAA_000137 1/13006 1/8600 0/4406
?/? c.197A>G r.(?) p.(Asn66Ser) g.26935157T>C Copied from the Exome Variant Server PLAA_000136 1/13006 1/8600 0/4406
?/? c.280A>G r.(?) p.(Ile94Val) g.26935074T>C Copied from the Exome Variant Server PLAA_000135 1/13006 1/8600 0/4406
?/? c.308T>C r.(?) p.(Met103Thr) g.26935046A>G Copied from the Exome Variant Server PLAA_000134 1/13006 1/8600 0/4406
?/? c.343+10A>G r.(=) p.(=) g.26935001T>C Copied from the Exome Variant Server PLAA_000133 1/13006 1/8600 0/4406
?/? c.343+31A>G r.(=) p.(=) g.26934980T>C Copied from the Exome Variant Server PLAA_000132 1/13006 1/8600 0/4406
?/? c.344-21C>A r.(=) p.(=) g.26928427G>T Copied from the Exome Variant Server PLAA_000131 987/13006 402/8600 585/4406
?/? c.352C>A r.(?) p.(Leu118Ile) g.26928398G>T Copied from the Exome Variant Server PLAA_000130 1/13006 1/8600 0/4406
?/? c.430A>G r.(?) p.(Met144Val) g.26928320T>C Copied from the Exome Variant Server PLAA_000129 3/13006 0/8600 3/4406
?/? c.444+9_444+11del r.(=) p.(=) g.26928295_26928297del Copied from the Exome Variant Server PLAA_000128 2/12518 2/8254 0/4264
?/? c.444+15T>C r.(=) p.(=) g.26928291A>G Copied from the Exome Variant Server PLAA_000127 7/13006 7/8600 0/4406
?/? c.460G>T r.(?) p.(Val154Leu) g.26928203C>A Copied from the Exome Variant Server PLAA_000126 2/13006 2/8600 0/4406
?/? c.567G>T r.(=) p.(=) g.26926557C>A Copied from the Exome Variant Server PLAA_000125 1/13006 0/8600 1/4406
?/? c.714C>T r.(=) p.(=) g.26926410G>A Copied from the Exome Variant Server PLAA_000124 2/12998 1/8594 1/4404
?/? c.733+35G>A r.(=) p.(=) g.26926356C>T Copied from the Exome Variant Server PLAA_000123 1/12972 1/8580 0/4392
?/? c.733+40G>T r.(=) p.(=) g.26926351C>A Copied from the Exome Variant Server PLAA_000122 1/12980 1/8586 0/4394
?/? c.733+44A>T r.(=) p.(=) g.26926347T>A Copied from the Exome Variant Server PLAA_000121 2/12972 0/8584 2/4388
?/? c.734-45C>T r.(=) p.(=) g.26926003G>A Copied from the Exome Variant Server PLAA_000120 1/13002 1/8598 0/4404
?/? c.734-39T>G r.(=) p.(=) g.26925997A>C Copied from the Exome Variant Server PLAA_000119 2/13004 0/8598 2/4406
?/? c.734-26A>G r.(=) p.(=) g.26925984T>C Copied from the Exome Variant Server PLAA_000118 2/13006 0/8600 2/4406
?/? c.734-24A>G r.(=) p.(=) g.26925982T>C Copied from the Exome Variant Server PLAA_000117 63/13006 1/8600 62/4406
?/? c.734-17A>G r.(=) p.(=) g.26925975T>C Copied from the Exome Variant Server PLAA_000116 1/13006 1/8600 0/4406
?/? c.734-11A>G r.(=) p.(=) g.26925969T>C Copied from the Exome Variant Server PLAA_000115 1/13006 1/8600 0/4406
?/? c.790G>A r.(?) p.(Ala264Thr) g.26925902C>T Copied from the Exome Variant Server PLAA_000114 3/13006 3/8600 0/4406
?/? c.803G>A r.(?) p.(Arg268Gln) g.26925889C>T Copied from the Exome Variant Server PLAA_000113 1/13006 1/8600 0/4406
?/? c.812C>T r.(?) p.(Ala271Val) g.26925880G>A Copied from the Exome Variant Server PLAA_000112 1/13006 1/8600 0/4406
?/? c.841G>A r.(?) p.(Asp281Asn) g.26925851C>T Copied from the Exome Variant Server PLAA_000111 10/13006 0/8600 10/4406
?/? c.869+8T>G r.(=) p.(=) g.26925815A>C Copied from the Exome Variant Server PLAA_000110 1/13006 1/8600 0/4406
?/? c.869+19A>G r.(=) p.(=) g.26925804T>C Copied from the Exome Variant Server PLAA_000109 17/13006 15/8600 2/4406
?/? c.869+34A>T r.(=) p.(=) g.26925789T>A Copied from the Exome Variant Server PLAA_000108 3/13006 0/8600 3/4406
?/? c.869+632A>G r.(=) p.(=) g.26925191T>C Copied from the Exome Variant Server PLAA_000107 6/4566 0/3182 6/1384
?/? c.869+669G>T r.(=) p.(=) g.26925154C>A Copied from the Exome Variant Server PLAA_000106 1/4566 0/3182 1/1384
?/? c.869+682T>C r.(=) p.(=) g.26925141A>G Copied from the Exome Variant Server PLAA_000105 1/4566 0/3182 1/1384
?/? c.869+766A>G r.(=) p.(=) g.26925057T>C Copied from the Exome Variant Server PLAA_000104 47/4566 0/3182 47/1384
?/? c.869+796A>T r.(=) p.(=) g.26925027T>A Copied from the Exome Variant Server PLAA_000103 16/4566 0/3182 16/1384
?/? c.869+851A>G r.(=) p.(=) g.26924972T>C Copied from the Exome Variant Server PLAA_000102 5/4566 5/3182 0/1384
?/? c.869+861C>T r.(=) p.(=) g.26924962G>A Copied from the Exome Variant Server PLAA_000101 17/4566 0/3182 17/1384
?/? c.870-32G>A r.(=) p.(=) g.26923377C>T Copied from the Exome Variant Server PLAA_000100 2/13006 0/8600 2/4406
?/? c.880A>G r.(?) p.(Ile294Val) g.26923335T>C Copied from the Exome Variant Server PLAA_000099 1/13006 0/8600 1/4406
?/? c.900A>G r.(=) p.(=) g.26923315T>C Copied from the Exome Variant Server PLAA_000098 1/13006 0/8600 1/4406
?/? c.902A>T r.(?) p.(Glu301Val) g.26923313T>A Copied from the Exome Variant Server PLAA_000097 2/13006 2/8600 0/4406
?/? c.905A>T r.(?) p.(Asp302Val) g.26923310T>A Copied from the Exome Variant Server PLAA_000095 1/13006 1/8600 0/4406
?/? c.912A>G r.(=) p.(=) g.26923303T>C Copied from the Exome Variant Server PLAA_000093 2/13006 2/8600 0/4406
?/? c.957C>T r.(=) p.(=) g.26923258G>A Copied from the Exome Variant Server PLAA_000096 187/13006 0/8600 187/4406
?/? c.958G>A r.(?) p.(Ala320Thr) g.26923257C>T Copied from the Exome Variant Server PLAA_000094 1/13006 1/8600 0/4406
?/? c.960A>G r.(=) p.(=) g.26923255T>C Copied from the Exome Variant Server PLAA_000092 1/13006 0/8600 1/4406
?/? c.982G>A r.(?) p.(Asp328Asn) g.26923233C>T Copied from the Exome Variant Server PLAA_000091 1/13006 1/8600 0/4406
?/? c.1004A>G r.(?) p.(Glu335Gly) g.26923211T>C Copied from the Exome Variant Server PLAA_000090 1/13006 1/8600 0/4406
?/? c.1039+1G>A r.spl? p.? g.26923175C>T Copied from the Exome Variant Server PLAA_000089 1/13006 1/8600 0/4406
?/? c.1039+47T>C r.(=) p.(=) g.26923129A>G Copied from the Exome Variant Server PLAA_000088 7/13004 0/8598 7/4406
?/? c.1068C>G r.(?) p.(Ile356Met) g.26920354G>C Copied from the Exome Variant Server PLAA_000087 1/13006 1/8600 0/4406
?/? c.1142_1144del r.(?) p.(Val381del) g.26920278_26920280del Copied from the Exome Variant Server PLAA_000086 108/12518 58/8254 50/4264
?/? c.1197+7C>T r.(=) p.(=) g.26920218G>A Copied from the Exome Variant Server PLAA_000085 1/13004 1/8600 0/4404
?/? c.1197+24T>G r.(=) p.(=) g.26920201A>C Copied from the Exome Variant Server PLAA_000084 1/13004 1/8600 0/4404
?/? c.1197+40T>C r.(=) p.(=) g.26920185A>G Copied from the Exome Variant Server PLAA_000083 1/13004 0/8600 1/4404
?/? c.1197+52T>A r.(=) p.(=) g.26920173A>T Copied from the Exome Variant Server PLAA_000082 1/5730 0/3980 1/1750
?/? c.1198-13A>G r.(=) p.(=) g.26919540T>C Copied from the Exome Variant Server PLAA_000081 34/12994 1/8588 33/4406
?/? c.1242A>G r.(=) p.(=) g.26919483T>C Copied from the Exome Variant Server PLAA_000080 1/13006 0/8600 1/4406
?/? c.1313A>G r.(?) p.(Asp438Gly) g.26919412T>C Copied from the Exome Variant Server PLAA_000079 1/13004 0/8598 1/4406
?/? c.1398C>T r.(=) p.(=) g.26919327G>A Copied from the Exome Variant Server PLAA_000078 1/13006 0/8600 1/4406
?/? c.1417+17A>G r.(=) p.(=) g.26919291T>C Copied from the Exome Variant Server PLAA_000077 2/13006 1/8600 1/4406
?/? c.1417+28T>C r.(=) p.(=) g.26919280A>G Copied from the Exome Variant Server PLAA_000076 1/13004 1/8598 0/4406
?/? c.1417+38T>G r.(=) p.(=) g.26919270A>C Copied from the Exome Variant Server PLAA_000075 129/13004 0/8598 129/4406
?/? c.1418-58G>A r.(=) p.(=) g.26917221C>T Copied from the Exome Variant Server PLAA_000074 54/4566 0/3182 54/1384
?/? c.1418-49A>G r.(=) p.(=) g.26917212T>C Copied from the Exome Variant Server PLAA_000073 32/13006 1/8600 31/4406
?/? c.1445C>T r.(?) p.(Ser482Leu) g.26917136G>A Copied from the Exome Variant Server PLAA_000072 7/13006 5/8600 2/4406
?/? c.1486+6A>T r.(=) p.(=) g.26917089T>A Copied from the Exome Variant Server PLAA_000071 29/13006 28/8600 1/4406
?/? c.1486+27C>T r.(=) p.(=) g.26917068G>A Copied from the Exome Variant Server PLAA_000070 6/13006 0/8600 6/4406
?/? c.1486+35A>G r.(=) p.(=) g.26917060T>C Copied from the Exome Variant Server PLAA_000069 3/13006 0/8600 3/4406
?/? c.1486+564del r.(=) p.(=) g.26916531del Copied from the Exome Variant Server PLAA_000068 365/6372 294/4234 71/2138
?/? c.1486+609T>G r.(=) p.(=) g.26916486A>C Copied from the Exome Variant Server PLAA_000067 1/4566 0/3182 1/1384
?/? c.1486+1170C>T r.(=) p.(=) g.26915925G>A Copied from the Exome Variant Server PLAA_000066 1215/4566 604/3182 611/1384
?/? c.1486+1177C>A r.(=) p.(=) g.26915918G>T Copied from the Exome Variant Server PLAA_000065 1/4566 1/3182 0/1384
?/? c.1486+1238G>T r.(=) p.(=) g.26915857C>A Copied from the Exome Variant Server PLAA_000064 1/4566 1/3182 0/1384
?/? c.1487-13T>C r.(=) p.(=) g.26913958A>G Copied from the Exome Variant Server PLAA_000063 1/13006 0/8600 1/4406
?/? c.1487-11T>C r.(=) p.(=) g.26913956A>G Copied from the Exome Variant Server PLAA_000062 1/13006 1/8600 0/4406
?/? c.1487G>A r.(?) p.(Gly496Asp) g.26913945C>T Copied from the Exome Variant Server PLAA_000061 1/13006 1/8600 0/4406
?/? c.1495C>T r.(?) p.(Arg499Cys) g.26913937G>A Copied from the Exome Variant Server PLAA_000060 1/13006 0/8600 1/4406
?/? c.1496G>T r.(?) p.(Arg499Leu) g.26913936C>A Copied from the Exome Variant Server PLAA_000059 2/13006 0/8600 2/4406
?/? c.1536C>T r.(=) p.(=) g.26913896G>A Copied from the Exome Variant Server PLAA_000058 1/13006 1/8600 0/4406
?/? c.1537G>A r.(?) p.(Gly513Arg) g.26913895C>T Copied from the Exome Variant Server PLAA_000057 2/13006 0/8600 2/4406
?/? c.1555+5A>G r.spl? p.? g.26913872T>C Copied from the Exome Variant Server PLAA_000056 1/13006 1/8600 0/4406
?/? c.1555+21T>C r.(=) p.(=) g.26913856A>G Copied from the Exome Variant Server PLAA_000055 4/13004 4/8598 0/4406
?/? c.1555+47C>T r.(=) p.(=) g.26913830G>A Copied from the Exome Variant Server PLAA_000054 2/12954 0/8582 2/4372
?/? c.1555+48G>A r.(=) p.(=) g.26913829C>T Copied from the Exome Variant Server PLAA_000053 897/12942 375/8576 522/4366
?/? c.1555+496C>G r.(=) p.(=) g.26913381G>C Copied from the Exome Variant Server PLAA_000052 9/4566 0/3182 9/1384
?/? c.1555+506_1555+508del r.(=) p.(=) g.26913369_26913371del Copied from the Exome Variant Server PLAA_000051 1/5862 1/3912 0/1950
?/? c.1555+635del r.(=) p.(=) g.26913242del Copied from the Exome Variant Server PLAA_000050 55/5844 37/3894 18/1950
?/? c.1555+673A>G r.(=) p.(=) g.26913204T>C Copied from the Exome Variant Server PLAA_000049 1/4566 1/3182 0/1384
?/? c.1556-43G>T r.(=) p.(=) g.26910480C>A Copied from the Exome Variant Server PLAA_000048 4/12998 3/8596 1/4402
?/? c.1556-32G>C r.(=) p.(=) g.26910469C>G Copied from the Exome Variant Server PLAA_000046 45/12998 1/8594 44/4404
?/? c.1559A>G r.(?) p.(Asn520Ser) g.26910434T>C Copied from the Exome Variant Server PLAA_000044 4/13006 2/8600 2/4406
Legend   « First ‹ Prev     1 2     Next › Last »