All transcript variants in gene PARN

Information The variants shown are described using the NM_002582.3 transcript reference sequence.

138 entries on 2 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.-41C>T r.(=) p.(=) g.14724023G>A Copied from the Exome Variant Server PARN_000138 1/11062 1/7636 0/3426
?/? c.-39C>T r.(=) p.(=) g.14724021G>A Copied from the Exome Variant Server PARN_000137 1/11074 1/7642 0/3432
?/? c.-38G>A r.(=) p.(=) g.14724020C>T Copied from the Exome Variant Server PARN_000136 1/11146 1/7690 0/3456
?/? c.19+24C>T r.(=) p.(=) g.14723940G>A Copied from the Exome Variant Server PARN_000135 1/11772 0/8064 1/3708
?/? c.19+31C>T r.(=) p.(=) g.14723933G>A Copied from the Exome Variant Server PARN_000134 1/11732 1/8036 0/3696
?/? c.19+41G>A r.(=) p.(=) g.14723923C>T Copied from the Exome Variant Server PARN_000133 1/11650 1/7994 0/3656
?/? c.19+65G>C r.(=) p.(=) g.14723899C>G Copied from the Exome Variant Server PARN_000132 2/4566 2/3182 0/1384
?/? c.20-44A>G r.(=) p.(=) g.14723575T>C Copied from the Exome Variant Server PARN_000131 23/11898 22/8176 1/3722
?/? c.20-34A>G r.(=) p.(=) g.14723565T>C Copied from the Exome Variant Server PARN_000130 1/11914 1/8190 0/3724
?/? c.55A>G r.(?) p.(Ile19Val) g.14723496T>C Copied from the Exome Variant Server PARN_000129 1/11992 1/8218 0/3774
?/? c.97+46C>T r.(=) p.(=) g.14723408G>A Copied from the Exome Variant Server PARN_000128 3/12032 3/8240 0/3792
?/? c.98-61_98-58del r.(=) p.(=) g.14722166_14722169del Copied from the Exome Variant Server PARN_000127 1/11320 1/7806 0/3514
?/? c.98-22A>G r.(=) p.(=) g.14722130T>C Copied from the Exome Variant Server PARN_000126 1/11722 1/8124 0/3598
?/? c.168G>C r.(?) p.(Lys56Asn) g.14722038C>G Copied from the Exome Variant Server PARN_000125 1/11872 1/8182 0/3690
?/? c.177+61A>C r.(=) p.(=) g.14721968T>G Copied from the Exome Variant Server PARN_000124 2/4564 0/3180 2/1384
?/? c.178-51A>G r.(=) p.(=) g.14721244T>C Copied from the Exome Variant Server PARN_000123 1/6218 0/4236 1/1982
?/? c.245+8G>T r.(=) p.(=) g.14721118C>A Copied from the Exome Variant Server PARN_000122 1/11938 1/8192 0/3746
?/? c.245+15C>T r.(=) p.(=) g.14721111G>A Copied from the Exome Variant Server PARN_000121 1/11954 0/8198 1/3756
?/? c.245+20G>A r.(=) p.(=) g.14721106C>T Copied from the Exome Variant Server PARN_000120 1/11958 1/8194 0/3764
?/? c.245+25G>C r.(=) p.(=) g.14721101C>G Copied from the Exome Variant Server PARN_000119 1/11958 1/8194 0/3764
?/? c.245+40G>A r.(=) p.(=) g.14721086C>T Copied from the Exome Variant Server PARN_000118 1/11972 1/8206 0/3766
?/? c.327+41A>G r.(=) p.(=) g.14720922T>C Copied from the Exome Variant Server PARN_000117 1/11894 0/8202 1/3692
?/? c.328-51A>G r.(=) p.(=) g.14711558T>C Copied from the Exome Variant Server PARN_000116 1/6242 1/4254 0/1988
?/? c.328-39A>G r.(=) p.(=) g.14711546T>C Copied from the Exome Variant Server PARN_000115 7/11940 0/8226 7/3714
?/? c.328-16G>A r.(=) p.(=) g.14711523C>T Copied from the Exome Variant Server PARN_000114 2/11908 2/8194 0/3714
?/? c.328-9C>G r.(=) p.(=) g.14711516G>C Copied from the Exome Variant Server PARN_000113 1/11914 1/8200 0/3714
?/? c.328-8_328-7insT r.(=) p.(=) g.14711514_14711515insA Copied from the Exome Variant Server PARN_000112 1/11454 0/7864 1/3590
?/? c.338T>C r.(?) p.(Ile113Thr) g.14711497A>G Copied from the Exome Variant Server PARN_000111 1/11866 1/8188 0/3678
?/? c.388+59G>T r.(=) p.(=) g.14711388C>A Copied from the Exome Variant Server PARN_000110 5/4566 0/3182 5/1384
?/? c.389-8G>A r.(=) p.(=) g.14704674C>T Copied from the Exome Variant Server PARN_000109 4/11854 3/8188 1/3666
?/? c.407A>T r.(?) p.(Gln136Leu) g.14704648T>A Copied from the Exome Variant Server PARN_000108 1/11944 1/8222 0/3722
?/? c.411A>G r.(=) p.(=) g.14704644T>C Copied from the Exome Variant Server PARN_000107 1/11966 1/8230 0/3736
?/? c.458C>T r.(?) p.(Ala153Val) g.14704597G>A Copied from the Exome Variant Server PARN_000106 1/12078 0/8260 1/3818
?/? c.466G>T r.(?) p.(Ala156Ser) g.14704589C>A Copied from the Exome Variant Server PARN_000105 6/12090 5/8258 1/3832
?/? c.482A>G r.(?) p.(Tyr161Cys) g.14704573T>C Copied from the Exome Variant Server PARN_000104 1/12092 1/8266 0/3826
?/? c.496A>G r.(?) p.(Thr166Ala) g.14704559T>C Copied from the Exome Variant Server PARN_000103 1/12100 0/8264 1/3836
?/? c.540T>C r.(=) p.(=) g.14704515A>G Copied from the Exome Variant Server PARN_000102 1/12048 1/8244 0/3804
?/? c.554+24G>A r.(=) p.(=) g.14704477C>T Copied from the Exome Variant Server PARN_000101 6/12084 0/8270 6/3814
?/? c.554+34T>C r.(=) p.(=) g.14704467A>G Copied from the Exome Variant Server PARN_000100 1/12118 0/8284 1/3834
?/? c.555-22A>G r.(=) p.(=) g.14703002T>C Copied from the Exome Variant Server PARN_000099 2/11846 0/8182 2/3664
?/? c.619G>A r.(?) p.(Gly207Arg) g.14702916C>T Copied from the Exome Variant Server PARN_000098 1/11860 1/8178 0/3682
?/? c.620+49T>C r.(=) p.(=) g.14702866A>G Copied from the Exome Variant Server PARN_000097 1/11896 1/8186 0/3710
?/? c.639T>C r.(=) p.(=) g.14702158A>G Copied from the Exome Variant Server PARN_000096 1/8508 0/5858 1/2650
?/? c.660-74A>G r.(=) p.(=) g.14700457T>C Copied from the Exome Variant Server PARN_000095 9/4562 9/3178 0/1384
?/? c.660-30C>G r.(=) p.(=) g.14700413G>C Copied from the Exome Variant Server PARN_000094 1/11810 1/8164 0/3646
?/? c.660-28A>G r.(=) p.(=) g.14700411T>C Copied from the Exome Variant Server PARN_000093 2/11810 0/8164 2/3646
?/? c.702+5C>T r.spl? p.? g.14700336G>A Copied from the Exome Variant Server PARN_000092 3/11764 0/8136 3/3628
?/? c.702+28C>A r.(=) p.(=) g.14700313G>T Copied from the Exome Variant Server PARN_000091 21/11762 19/8138 2/3624
?/? c.702+29A>G r.(=) p.(=) g.14700312T>C Copied from the Exome Variant Server PARN_000090 11/11756 0/8138 11/3618
?/? c.702+31T>A r.(=) p.(=) g.14700310A>T Copied from the Exome Variant Server PARN_000089 2/11750 2/8134 0/3616
?/? c.702+43T>C r.(=) p.(=) g.14700298A>G Copied from the Exome Variant Server PARN_000088 2/11732 1/8132 1/3600
?/? c.702+50A>G r.(=) p.(=) g.14700291T>C Copied from the Exome Variant Server PARN_000087 22/11720 20/8130 2/3590
?/? c.703-22A>G r.(=) p.(=) g.14698105T>C Copied from the Exome Variant Server PARN_000086 7/11842 7/8168 0/3674
?/? c.703-6T>C r.(=) p.(=) g.14698089A>G Copied from the Exome Variant Server PARN_000085 3/11862 3/8168 0/3694
?/? c.710G>A r.(?) p.(Arg237Gln) g.14698076C>T Copied from the Exome Variant Server PARN_000084 1/11884 0/8184 1/3700
?/? c.715A>G r.(?) p.(Ile239Val) g.14698071T>C Copied from the Exome Variant Server PARN_000083 1/11892 1/8192 0/3700
?/? c.736G>A r.(?) p.(Glu246Lys) g.14698050C>T Copied from the Exome Variant Server PARN_000082 1/11930 1/8202 0/3728
?/? c.784-14del r.(=) p.(=) g.14693831del Copied from the Exome Variant Server PARN_000081 2/11266 2/7794 0/3472
?/? c.825C>T r.(=) p.(=) g.14693776G>A Copied from the Exome Variant Server PARN_000080 11/11846 5/8174 6/3672
?/? c.840G>A r.(=) p.(=) g.14693761C>T Copied from the Exome Variant Server PARN_000079 2/11874 2/8186 0/3688
?/? c.840+6del r.(=) p.(=) g.14693755del Copied from the Exome Variant Server PARN_000077 39/11428 0/7852 39/3576
?/? c.840+6T>C r.(=) p.(=) g.14693755A>G Copied from the Exome Variant Server PARN_000078 6/11884 6/8192 0/3692
?/? c.840+25A>G r.(=) p.(=) g.14693736T>C Copied from the Exome Variant Server PARN_000074 2/11864 2/8178 0/3686
?/? c.866T>C r.(?) p.(Met289Thr) g.14687210A>G Copied from the Exome Variant Server PARN_000076 1/12096 0/8266 1/3830
?/? c.917C>T r.(?) p.(Ala306Val) g.14687159G>A Copied from the Exome Variant Server PARN_000075 1/12026 0/8232 1/3794
?/? c.918+14T>C r.(=) p.(=) g.14687144A>G Copied from the Exome Variant Server PARN_000073 558/11950 342/8196 216/3754
?/? c.919-68G>A r.(=) p.(=) g.14680286C>T Copied from the Exome Variant Server PARN_000072 1/4566 0/3182 1/1384
?/? c.943A>G r.(?) p.(Thr315Ala) g.14680194T>C Copied from the Exome Variant Server PARN_000071 1/11804 1/8150 0/3654
?/? c.978A>G r.(=) p.(=) g.14678633T>C Copied from the Exome Variant Server PARN_000070 3/11742 3/8128 0/3614
?/? c.1005+12T>C r.(=) p.(=) g.14678594A>G Copied from the Exome Variant Server PARN_000069 1/11764 1/8144 0/3620
?/? c.1005+39T>A r.(=) p.(=) g.14678567A>T Copied from the Exome Variant Server PARN_000068 2/11764 2/8142 0/3622
?/? c.1005+42T>C r.(=) p.(=) g.14678564A>G Copied from the Exome Variant Server PARN_000067 1/11766 1/8142 0/3624
?/? c.1006-49T>C r.(=) p.(=) g.14678328A>G Copied from the Exome Variant Server PARN_000066 13/11742 13/8120 0/3622
?/? c.1006-5T>C r.spl? p.? g.14678284A>G Copied from the Exome Variant Server PARN_000065 1/11812 1/8162 0/3650
?/? c.1031C>T r.(?) p.(Ala344Val) g.14678254G>A Copied from the Exome Variant Server PARN_000064 2/11806 2/8172 0/3634
?/? c.1046G>A r.(?) p.(Arg349Gln) g.14678239C>T Copied from the Exome Variant Server PARN_000063 1/11818 0/8180 1/3638
?/? c.1082-52A>G r.(=) p.(=) g.14676200T>C Copied from the Exome Variant Server PARN_000062 1/6134 1/4212 0/1922
?/? c.1086T>C r.(=) p.(=) g.14676144A>G Copied from the Exome Variant Server PARN_000061 1/11958 1/8206 0/3752
?/? c.1101A>G r.(=) p.(=) g.14676129T>C Copied from the Exome Variant Server PARN_000060 1/12060 1/8244 0/3816
?/? c.1102A>T r.(?) p.(Ser368Cys) g.14676128T>A Copied from the Exome Variant Server PARN_000059 35/12074 0/8250 35/3824
?/? c.1131C>T r.(=) p.(=) g.14676099G>A Copied from the Exome Variant Server PARN_000058 3/12264 3/8316 0/3948
?/? c.1151A>G r.(?) p.(Tyr384Cys) g.14676079T>C Copied from the Exome Variant Server PARN_000057 1/12426 0/8390 1/4036
?/? c.1192+50C>T r.(=) p.(=) g.14675988G>A Copied from the Exome Variant Server PARN_000056 1/12488 0/8404 1/4084
?/? c.1193-43A>G r.(=) p.(=) g.14674843T>C Copied from the Exome Variant Server PARN_000055 2/11878 1/8174 1/3704
?/? c.1193-21C>G r.(=) p.(=) g.14674821G>C Copied from the Exome Variant Server PARN_000054 1/11846 1/8172 0/3674
?/? c.1193-8T>G r.(=) p.(=) g.14674808A>C Copied from the Exome Variant Server PARN_000053 6/11806 5/8164 1/3642
?/? c.1262+47C>T r.(=) p.(=) g.14674684G>A Copied from the Exome Variant Server PARN_000052 1/11820 0/8172 1/3648
?/? c.1263-60G>A r.(=) p.(=) g.14649626C>T Copied from the Exome Variant Server PARN_000051 211/4562 139/3178 72/1384
?/? c.1263-8T>G r.(=) p.(=) g.14649574A>C Copied from the Exome Variant Server PARN_000050 16/11734 16/8136 0/3598
?/? c.1297C>G r.(?) p.(Leu433Val) g.14649532G>C Copied from the Exome Variant Server PARN_000049 1/11778 1/8142 0/3636
?/? c.1318+42G>A r.(=) p.(=) g.14649469C>T Copied from the Exome Variant Server PARN_000048 1/11698 0/8090 1/3608
?/? c.1319-47T>C r.(=) p.(=) g.14648055A>G Copied from the Exome Variant Server PARN_000047 1/11902 0/8188 1/3714
?/? c.1319-43C>T r.(=) p.(=) g.14648051G>A Copied from the Exome Variant Server PARN_000046 28/11904 0/8186 28/3718
?/? c.1320G>A r.(=) p.(=) g.14648007C>T Copied from the Exome Variant Server PARN_000045 2/11942 2/8202 0/3740
?/? c.1383T>C r.(=) p.(=) g.14647944A>G Copied from the Exome Variant Server PARN_000044 102/11898 0/8182 102/3716
?/? c.1405+3A>G r.spl? p.? g.14647919T>C Copied from the Exome Variant Server PARN_000043 1/11860 1/8176 0/3684
?/? c.1405+6T>C r.(=) p.(=) g.14647916A>G Copied from the Exome Variant Server PARN_000042 1/11864 1/8176 0/3688
?/? c.1405+8G>A r.(=) p.(=) g.14647914C>T Copied from the Exome Variant Server PARN_000041 3/11858 3/8174 0/3684
?/? c.1405+30G>C r.(=) p.(=) g.14647892C>G Copied from the Exome Variant Server PARN_000040 1/11830 1/8168 0/3662
?/? c.1413T>C r.(=) p.(=) g.14645945A>G Copied from the Exome Variant Server PARN_000039 2/11994 0/8228 2/3766
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