Unique variants in gene PARP14

Information The variants shown are described using the NM_017554.2 transcript reference sequence.

181 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.-46C>A r.(=) p.(=) g.122399685C>A Copied from the Exome Variant Server PARP14_000018 1/11828 0/8062 1/3766
1 c.-16G>C r.(=) p.(=) g.122399715G>C Copied from the Exome Variant Server PARP14_000021 2/11958 2/8162 0/3796
1 c.16T>G r.(?) p.(Ser6Ala) g.122399746T>G Copied from the Exome Variant Server PARP14_000023 1/11980 1/8188 0/3792
1 c.169_171del r.(?) p.(Phe58del) g.122399899_122399901del Copied from the Exome Variant Server PARP14_000026 1/11426 1/7836 0/3590
1 c.185A>C r.(?) p.(Asp62Ala) g.122399915A>C Copied from the Exome Variant Server PARP14_000028 33/11900 31/8180 2/3720
1 c.188-46A>G r.(=) p.(=) g.122403986A>G Copied from the Exome Variant Server PARP14_000031 8/11790 0/8150 8/3640
1 c.188-22T>C r.(=) p.(=) g.122404010T>C Copied from the Exome Variant Server PARP14_000034 1/11810 1/8160 0/3650
1 c.288C>T r.(=) p.(=) g.122404132C>T Copied from the Exome Variant Server PARP14_000001 1/11958 1/8220 0/3738
1 c.321+1G>A r.spl? p.? g.122404166G>A Copied from the Exome Variant Server PARP14_000002 4/11934 3/8196 1/3738
1 c.321+35A>T r.(=) p.(=) g.122404200A>T Copied from the Exome Variant Server PARP14_000003 1/11944 1/8202 0/3742
1 c.321+37G>T r.(=) p.(=) g.122404202G>T Copied from the Exome Variant Server PARP14_000004 4/11960 0/8206 4/3754
1 c.321+49G>A r.(=) p.(=) g.122404214G>A Copied from the Exome Variant Server PARP14_000005 1/11962 0/8204 1/3758
1 c.322-62A>T r.(=) p.(=) g.122405865A>T Copied from the Exome Variant Server PARP14_000006 7/4566 0/3182 7/1384
1 c.322-13G>A r.(=) p.(=) g.122405914G>A Copied from the Exome Variant Server PARP14_000007 2/11854 1/8172 1/3682
1 c.322-7G>A r.(=) p.(=) g.122405920G>A Copied from the Exome Variant Server PARP14_000009 1/11890 1/8192 0/3698
1 c.355+3A>G r.spl? p.? g.122405963A>G Copied from the Exome Variant Server PARP14_000011 2/12054 2/8264 0/3790
1 c.355+68G>A r.(=) p.(=) g.122406028G>A Copied from the Exome Variant Server PARP14_000012 3/4566 3/3182 0/1384
1 c.356-27G>T r.(=) p.(=) g.122411121G>T Copied from the Exome Variant Server PARP14_000014 4/11998 0/8218 4/3780
1 c.356-4T>C r.spl? p.? g.122411144T>C Copied from the Exome Variant Server PARP14_000016 1/11954 0/8208 1/3746
1 c.394G>A r.(?) p.(Gly132Ser) g.122411186G>A Copied from the Exome Variant Server PARP14_000019 1/11874 1/8174 0/3700
1 c.598+40A>G r.(=) p.(=) g.122411430A>G Copied from the Exome Variant Server PARP14_000024 19/11922 19/8202 0/3720
1 c.599-20_599-19del r.(=) p.(=) g.122414253_122414254del Copied from the Exome Variant Server PARP14_000027 279/11174 198/7738 81/3436
1 c.599-19del r.(=) p.(=) g.122414254del Copied from the Exome Variant Server PARP14_000032 1173/11174 814/7738 359/3436
1 c.599-19dup r.(=) p.(=) g.122414254dup Copied from the Exome Variant Server PARP14_000029 815/11174 576/7738 239/3436
1 c.635A>G r.(?) p.(His212Arg) g.122414309A>G Copied from the Exome Variant Server PARP14_000035 1/11792 1/8152 0/3640
1 c.688A>G r.(?) p.(Ile230Val) g.122414362A>G Copied from the Exome Variant Server PARP14_000037 1/11848 1/8170 0/3678
1 c.703C>G r.(?) p.(Leu235Val) g.122414377C>G Copied from the Exome Variant Server PARP14_000039 1/11846 1/8176 0/3670
1 c.829A>C r.(=) p.(=) g.122414503A>C Copied from the Exome Variant Server PARP14_000041 2/11732 0/8126 2/3606
1 c.836-46C>A r.(=) p.(=) g.122418191C>A Copied from the Exome Variant Server PARP14_000043 7/11748 6/8126 1/3622
1 c.836-8C>G r.(=) p.(=) g.122418229C>G Copied from the Exome Variant Server PARP14_000045 1/11884 1/8182 0/3702
1 c.837G>A r.(=) p.(=) g.122418238G>A Copied from the Exome Variant Server PARP14_000047 2/11960 1/8212 1/3748
1 c.855C>T r.(=) p.(=) g.122418256C>T Copied from the Exome Variant Server PARP14_000049 2/12050 0/8238 2/3812
1 c.864C>T r.(=) p.(=) g.122418265C>T Copied from the Exome Variant Server PARP14_000008 2/12044 2/8230 0/3814
1 c.1035C>T r.(=) p.(=) g.122418436C>T Copied from the Exome Variant Server PARP14_000010 2/12294 1/8338 1/3956
1 c.1036G>A r.(?) p.(Asp346Asn) g.122418437G>A Copied from the Exome Variant Server PARP14_000013 3/12308 1/8344 2/3964
1 c.1133C>T r.(?) p.(Pro378Leu) g.122418534C>T Copied from the Exome Variant Server PARP14_000015 2/12314 1/8332 1/3982
1 c.1185G>A r.(=) p.(=) g.122418586G>A Copied from the Exome Variant Server PARP14_000017 1/12086 1/8260 0/3826
1 c.1223C>A r.(?) p.(Thr408Lys) g.122418624C>A Copied from the Exome Variant Server PARP14_000020 4/12024 4/8246 0/3778
1 c.1244A>G r.(?) p.(Asn415Ser) g.122418645A>G Copied from the Exome Variant Server PARP14_000022 1/11990 0/8224 1/3766
1 c.1248T>G r.(?) p.(Asp416Glu) g.122418649T>G Copied from the Exome Variant Server PARP14_000025 1/12002 1/8224 0/3778
1 c.1333A>C r.(?) p.(Ile445Leu) g.122418734A>C Copied from the Exome Variant Server PARP14_000181 1/11916 1/8204 0/3712
1 c.1342C>G r.(?) p.(Gln448Glu) g.122418743C>G Copied from the Exome Variant Server PARP14_000030 1/11910 1/8198 0/3712
1 c.1349G>A r.(?) p.(Arg450Lys) g.122418750G>A Copied from the Exome Variant Server PARP14_000033 2476/11898 1864/8190 612/3708
1 c.1459C>T r.(=) p.(=) g.122418860C>T Copied from the Exome Variant Server PARP14_000036 1/11904 1/8180 0/3724
1 c.1462G>A r.(?) p.(Asp488Asn) g.122418863G>A Copied from the Exome Variant Server PARP14_000038 131/11912 1/8182 130/3730
1 c.1473C>T r.(=) p.(=) g.122418874C>T Copied from the Exome Variant Server PARP14_000040 1/11924 1/8190 0/3734
1 c.1475C>T r.(?) p.(Thr492Met) g.122418876C>T Copied from the Exome Variant Server PARP14_000042 1/11918 1/8190 0/3728
1 c.1476G>A r.(=) p.(=) g.122418877G>A Copied from the Exome Variant Server PARP14_000044 37/11928 34/8196 3/3732
1 c.1479G>A r.(=) p.(=) g.122418880G>A Copied from the Exome Variant Server PARP14_000046 1/11938 1/8202 0/3736
1 c.1511T>A r.(?) p.(Val504Asp) g.122418912T>A Copied from the Exome Variant Server PARP14_000048 2/11996 0/8220 2/3776
1 c.1560A>G r.(=) p.(=) g.122418961A>G Copied from the Exome Variant Server PARP14_000050 1/11958 1/8220 0/3738
1 c.1572C>T r.(=) p.(=) g.122418973C>T Copied from the Exome Variant Server PARP14_000051 1/11938 1/8212 0/3726
1 c.1599G>A r.(=) p.(=) g.122419000G>A Copied from the Exome Variant Server PARP14_000052 1/11868 0/8188 1/3680
1 c.1640A>G r.(?) p.(Gln547Arg) g.122419041A>G Copied from the Exome Variant Server PARP14_000053 2/11834 2/8182 0/3652
1 c.1682C>A r.(?) p.(Ala561Glu) g.122419083C>A Copied from the Exome Variant Server PARP14_000054 1022/11848 872/8180 150/3668
1 c.1703A>G r.(?) p.(Tyr568Cys) g.122419104A>G Copied from the Exome Variant Server PARP14_000055 1/11848 1/8174 0/3674
1 c.1734C>G r.(=) p.(=) g.122419135C>G Copied from the Exome Variant Server PARP14_000056 39/11872 0/8174 39/3698
1 c.1750G>A r.(?) p.(Ala584Thr) g.122419151G>A Copied from the Exome Variant Server PARP14_000057 10/11890 0/8178 10/3712
1 c.1835A>G r.(?) p.(Lys612Arg) g.122419236A>G Copied from the Exome Variant Server PARP14_000058 2/11916 2/8186 0/3730
1 c.1890C>A r.(?) p.(Asn630Lys) g.122419291C>A Copied from the Exome Variant Server PARP14_000059 1/11888 1/8206 0/3682
1 c.1891A>G r.(?) p.(Thr631Ala) g.122419292A>G Copied from the Exome Variant Server PARP14_000060 703/11886 361/8202 342/3684
1 c.1993G>A r.(?) p.(Val665Ile) g.122419394G>A Copied from the Exome Variant Server PARP14_000061 1/11778 0/8150 1/3628
1 c.2097G>T r.(?) p.(Lys699Asn) g.122419498G>T Copied from the Exome Variant Server PARP14_000063 1/11902 0/8200 1/3702
1 c.2108A>G r.(?) p.(Gln703Arg) g.122419509A>G Copied from the Exome Variant Server PARP14_000065 1/11932 1/8208 0/3724
1 c.2149C>T r.(=) p.(=) g.122419550C>T Copied from the Exome Variant Server PARP14_000067 3/12006 0/8230 3/3776
1 c.2167G>A r.(?) p.(Glu723Lys) g.122419568G>A Copied from the Exome Variant Server PARP14_000069 1/12096 1/8254 0/3842
1 c.2183T>A r.(?) p.(Val728Glu) g.122419584T>A Copied from the Exome Variant Server PARP14_000071 2/12186 0/8282 2/3904
1 c.2197C>A r.(?) p.(Gln733Lys) g.122419598C>A Copied from the Exome Variant Server PARP14_000073 1/12222 1/8294 0/3928
1 c.2216G>A r.(?) p.(Cys739Tyr) g.122419617G>A Copied from the Exome Variant Server PARP14_000074 1/12250 0/8324 1/3926
1 c.2285A>G r.(?) p.(Gln762Arg) g.122419686A>G Copied from the Exome Variant Server PARP14_000076 1/12364 0/8370 1/3994
1 c.2299C>T r.(?) p.(Arg767Trp) g.122419700C>T Copied from the Exome Variant Server PARP14_000078 1/12404 1/8368 0/4036
1 c.2362G>A r.(?) p.(Ala788Thr) g.122419763G>A Copied from the Exome Variant Server PARP14_000080 1/12678 1/8458 0/4220
1 c.2383C>T r.(?) p.(Arg795Trp) g.122419784C>T Copied from the Exome Variant Server PARP14_000082 1/12750 0/8482 1/4268
1 c.2437C>T r.(?) p.(Arg813Trp) g.122419838C>T Copied from the Exome Variant Server PARP14_000084 3/12824 3/8514 0/4310
1 c.2448C>T r.(=) p.(=) g.122419849C>T Copied from the Exome Variant Server PARP14_000086 2/12806 2/8504 0/4302
1 c.2490T>C r.(=) p.(=) g.122419891T>C Copied from the Exome Variant Server PARP14_000088 1/12666 1/8462 0/4204
1 c.2553G>C r.(?) p.(Gln851His) g.122419954G>C Copied from the Exome Variant Server PARP14_000090 3/12510 0/8388 3/4122
1 c.2582C>G r.(?) p.(Pro861Arg) g.122419983C>G Copied from the Exome Variant Server PARP14_000091 1/12448 0/8358 1/4090
1 c.2592C>T r.(=) p.(=) g.122419993C>T Copied from the Exome Variant Server PARP14_000093 329/12422 3/8338 326/4084
1 c.2607A>T r.(=) p.(=) g.122420008A>T Copied from the Exome Variant Server PARP14_000095 1/12382 1/8322 0/4060
1 c.2628C>T r.(=) p.(=) g.122420029C>T Copied from the Exome Variant Server PARP14_000098 1/12324 0/8314 1/4010
1 c.2639C>A r.(?) p.(Ala880Glu) g.122420040C>A Copied from the Exome Variant Server PARP14_000100 1/12258 1/8302 0/3956
1 c.2649C>T r.(=) p.(=) g.122420050C>T Copied from the Exome Variant Server PARP14_000062 402/12202 361/8276 41/3926
1 c.2659G>C r.(?) p.(Gly887Arg) g.122420060G>C Copied from the Exome Variant Server PARP14_000064 1/12162 1/8274 0/3888
1 c.2673G>A r.(=) p.(=) g.122420074G>A Copied from the Exome Variant Server PARP14_000066 1/12122 1/8258 0/3864
1 c.2695A>G r.(?) p.(Arg899Gly) g.122420096A>G Copied from the Exome Variant Server PARP14_000068 1/12182 1/8280 0/3902
1 c.2795G>A r.(?) p.(Arg932Gln) g.122420196G>A Copied from the Exome Variant Server PARP14_000070 1/12234 1/8290 0/3944
1 c.2799C>T r.(=) p.(=) g.122420200C>T Copied from the Exome Variant Server PARP14_000072 6/12238 6/8294 0/3944
1 c.2800G>A r.(?) p.(Val934Met) g.122420201G>A Copied from the Exome Variant Server PARP14_000075 1/12240 1/8290 0/3950
1 c.2830A>T r.(?) p.(Asn944Tyr) g.122420231A>T Copied from the Exome Variant Server PARP14_000077 1/12224 0/8286 1/3938
1 c.2877T>C r.(=) p.(=) g.122420278T>C Copied from the Exome Variant Server PARP14_000079 1/12186 1/8286 0/3900
1 c.2899G>A r.(?) p.(Val967Ile) g.122420300G>A Copied from the Exome Variant Server PARP14_000081 1/12210 0/8306 1/3904
1 c.2905G>A r.(?) p.(Ala969Thr) g.122420306G>A Copied from the Exome Variant Server PARP14_000083 2/12220 2/8308 0/3912
1 c.2977C>T r.(?) p.(Pro993Ser) g.122420378C>T Copied from the Exome Variant Server PARP14_000085 1/12090 1/8268 0/3822
1 c.3021C>T r.(=) p.(=) g.122420422C>T Copied from the Exome Variant Server PARP14_000087 1/12130 0/8286 1/3844
1 c.3081+10G>A r.(=) p.(=) g.122420492G>A Copied from the Exome Variant Server PARP14_000089 1/12344 1/8338 0/4006
1 c.3082-15G>C r.(=) p.(=) g.122422574G>C Copied from the Exome Variant Server PARP14_000092 1/11864 1/8174 0/3690
1 c.3084C>T r.(=) p.(=) g.122422591C>T Copied from the Exome Variant Server PARP14_000094 5/11896 0/8182 5/3714
1 c.3085G>T r.(?) p.(Asp1029Tyr) g.122422592G>T Copied from the Exome Variant Server PARP14_000096 1/11912 1/8186 0/3726
1 c.3166C>T r.(?) p.(Pro1056Ser) g.122422673C>T Copied from the Exome Variant Server PARP14_000097 1/12224 0/8298 1/3926
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