Unique variants in gene PHLPP1

Information The variants shown are described using the NM_194449.3 transcript reference sequence.

185 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.1497A>C r.(?) p.(Gln499His) g.60384413A>C Copied from the Exome Variant Server PHLPP1_000001 1/12274 1/8304 0/3970
1 c.1509G>A r.(=) p.(=) g.60384425G>A Copied from the Exome Variant Server PHLPP1_000002 1/12324 0/8334 1/3990
1 c.1540G>A r.(?) p.(Asp514Asn) g.60384456G>A Copied from the Exome Variant Server PHLPP1_000003 1/12404 1/8364 0/4040
1 c.1543T>A r.(?) p.(Ser515Thr) g.60384459T>A Copied from the Exome Variant Server PHLPP1_000004 12/12408 0/8360 12/4048
1 c.1576+13C>T r.(=) p.(=) g.60384505C>T Copied from the Exome Variant Server PHLPP1_000005 1/12358 1/8338 0/4020
1 c.1576+32G>C r.(=) p.(=) g.60384524G>C Copied from the Exome Variant Server PHLPP1_000006 4/12294 0/8320 4/3974
1 c.1576+34A>G r.(=) p.(=) g.60384526A>G Copied from the Exome Variant Server PHLPP1_000007 1/12284 1/8314 0/3970
1 c.1577-3780A>G r.(=) p.(=) g.60493488A>G Copied from the Exome Variant Server PHLPP1_000008 9/5654 8/3936 1/1718
1 c.1577-39_1577-38insT r.(=) p.(=) g.60497229_60497230insT Copied from the Exome Variant Server PHLPP1_000009 42/11434 0/7852 42/3582
1 c.1577-6T>C r.(=) p.(=) g.60497262T>C Copied from the Exome Variant Server PHLPP1_000010 1/12030 1/8244 0/3786
1 c.1587C>T r.(=) p.(=) g.60497278C>T Copied from the Exome Variant Server PHLPP1_000011 1/12112 1/8286 0/3826
1 c.1592C>T r.(?) p.(Thr531Met) g.60497283C>T Copied from the Exome Variant Server PHLPP1_000012 2/12130 2/8284 0/3846
1 c.1593G>A r.(=) p.(=) g.60497284G>A Copied from the Exome Variant Server PHLPP1_000013 91/12144 1/8292 90/3852
1 c.1598G>T r.(?) p.(Ser533Ile) g.60497289G>T Copied from the Exome Variant Server PHLPP1_000014 1/12182 0/8306 1/3876
1 c.1601C>G r.(?) p.(Ser534Cys) g.60497292C>G Copied from the Exome Variant Server PHLPP1_000015 1/12180 1/8298 0/3882
1 c.1630A>G r.(?) p.(Asn544Asp) g.60497321A>G Copied from the Exome Variant Server PHLPP1_000016 1/12326 0/8344 1/3982
1 c.1692A>G r.(=) p.(=) g.60497383A>G Copied from the Exome Variant Server PHLPP1_000017 1/12524 0/8400 1/4124
1 c.1702T>C r.(?) p.(Cys568Arg) g.60497393T>C Copied from the Exome Variant Server PHLPP1_000018 43/12534 40/8404 3/4130
1 c.1735A>G r.(?) p.(Thr579Ala) g.60497426A>G Copied from the Exome Variant Server PHLPP1_000019 4/12494 0/8388 4/4106
1 c.1759C>G r.(?) p.(Leu587Val) g.60497450C>G Copied from the Exome Variant Server PHLPP1_000021 3/12448 2/8366 1/4082
1 c.1773+5_1773+8del r.spl? p.? g.60497469_60497472del Copied from the Exome Variant Server PHLPP1_000023 17/11230 13/7516 4/3714
1 c.1774-47G>A r.(=) p.(=) g.60505970G>A Copied from the Exome Variant Server PHLPP1_000025 1/12126 1/8262 0/3864
1 c.1774-21_1774-20del r.(=) p.(=) g.60505996_60505997del Copied from the Exome Variant Server PHLPP1_000027 2475/11590 1020/7910 1455/3680
1 c.1785G>A r.(=) p.(=) g.60506028G>A Copied from the Exome Variant Server PHLPP1_000029 1/12066 1/8242 0/3824
1 c.1807G>A r.(?) p.(Ala603Thr) g.60506050G>A Copied from the Exome Variant Server PHLPP1_000031 1/12036 0/8234 1/3802
1 c.1820C>T r.(?) p.(Ser607Phe) g.60506063C>T Copied from the Exome Variant Server PHLPP1_000033 5/12000 0/8226 5/3774
1 c.1899+31C>T r.(=) p.(=) g.60506173C>T Copied from the Exome Variant Server PHLPP1_000035 1/11956 1/8208 0/3748
1 c.1900-51T>C r.(=) p.(=) g.60527617T>C Copied from the Exome Variant Server PHLPP1_000037 2/6154 0/4202 2/1952
1 c.1900-39A>G r.(=) p.(=) g.60527629A>G Copied from the Exome Variant Server PHLPP1_000041 1/11942 1/8196 0/3746
1 c.1900-27T>C r.(=) p.(=) g.60527641T>C Copied from the Exome Variant Server PHLPP1_000044 1/11988 1/8212 0/3776
1 c.1923A>C r.(=) p.(=) g.60527691A>C Copied from the Exome Variant Server PHLPP1_000047 39/12222 38/8314 1/3908
1 c.1948G>A r.(?) p.(Glu650Lys) g.60527716G>A Copied from the Exome Variant Server PHLPP1_000050 1/12228 1/8316 0/3912
1 c.2031C>T r.(=) p.(=) g.60527799C>T Copied from the Exome Variant Server PHLPP1_000020 11/11958 10/8212 1/3746
1 c.2048G>A r.(?) p.(Gly683Glu) g.60527816G>A Copied from the Exome Variant Server PHLPP1_000022 1/11934 0/8204 1/3730
1 c.2066+6C>A r.(=) p.(=) g.60527840C>A Copied from the Exome Variant Server PHLPP1_000024 1/11904 0/8186 1/3718
1 c.2066+9G>A r.(=) p.(=) g.60527843G>A Copied from the Exome Variant Server PHLPP1_000026 24/11886 0/8182 24/3704
1 c.2066+23A>G r.(=) p.(=) g.60527857A>G Copied from the Exome Variant Server PHLPP1_000028 1/11900 0/8190 1/3710
1 c.2067G>A r.(=) p.(=) g.60562244G>A Copied from the Exome Variant Server PHLPP1_000030 5/11890 0/8178 5/3712
1 c.2121A>T r.(=) p.(=) g.60562298A>T Copied from the Exome Variant Server PHLPP1_000032 7049/12002 5064/8234 1985/3768
1 c.2161G>A r.(?) p.(Val721Met) g.60562338G>A Copied from the Exome Variant Server PHLPP1_000034 2/12072 1/8258 1/3814
1 c.2168G>A r.(?) p.(Cys723Tyr) g.60562345G>A Copied from the Exome Variant Server PHLPP1_000036 1/12076 1/8264 0/3812
1 c.2187C>T r.(=) p.(=) g.60562364C>T Copied from the Exome Variant Server PHLPP1_000038 1/12064 1/8258 0/3806
1 c.2197G>A r.(?) p.(Val733Ile) g.60562374G>A Copied from the Exome Variant Server PHLPP1_000040 1/12070 0/8244 1/3826
1 c.2213+27G>T r.(=) p.(=) g.60562417G>T Copied from the Exome Variant Server PHLPP1_000043 2/11994 2/8216 0/3778
1 c.2213+50_2213+52del r.(=) p.(=) g.60562440_60562442del Copied from the Exome Variant Server PHLPP1_000045 3/11508 0/7880 3/3628
1 c.2214-50G>T r.(=) p.(=) g.60562964G>T Copied from the Exome Variant Server PHLPP1_000049 1/11748 1/8134 0/3614
1 c.2214-3T>C r.spl? p.? g.60563011T>C Copied from the Exome Variant Server PHLPP1_000052 1/11772 0/8142 1/3630
1 c.2250A>G r.(=) p.(=) g.60563050A>G Copied from the Exome Variant Server PHLPP1_000054 1/11806 1/8146 0/3660
1 c.2321A>C r.(?) p.(Asp774Ala) g.60563121A>C Copied from the Exome Variant Server PHLPP1_000056 6/11886 6/8194 0/3692
1 c.2328C>T r.(=) p.(=) g.60563128C>T Copied from the Exome Variant Server PHLPP1_000058 1/11890 0/8198 1/3692
1 c.2331A>C r.(?) p.(Glu777Asp) g.60563131A>C Copied from the Exome Variant Server PHLPP1_000060 58/11886 51/8194 7/3692
1 c.2425A>G r.(?) p.(Ile809Val) g.60563225A>G Copied from the Exome Variant Server PHLPP1_000061 67/11874 62/8182 5/3692
1 c.2444+19T>C r.(=) p.(=) g.60563263T>C Copied from the Exome Variant Server PHLPP1_000064 59/11890 57/8190 2/3700
1 c.2484C>G r.(?) p.(Asp828Glu) g.60570236C>G Copied from the Exome Variant Server PHLPP1_000066 7/12134 6/8290 1/3844
1 c.2628G>A r.(=) p.(=) g.60570380G>A Copied from the Exome Variant Server PHLPP1_000067 1/11946 0/8220 1/3726
1 c.2647+21C>T r.(=) p.(=) g.60570420C>T Copied from the Exome Variant Server PHLPP1_000069 62/11914 56/8206 6/3708
1 c.2647+44G>A r.(=) p.(=) g.60570443G>A Copied from the Exome Variant Server PHLPP1_000072 1/11876 1/8176 0/3700
1 c.2648-39A>G r.(=) p.(=) g.60572418A>G Copied from the Exome Variant Server PHLPP1_000039 15/11750 0/8140 15/3610
1 c.2648-26T>C r.(=) p.(=) g.60572431T>C Copied from the Exome Variant Server PHLPP1_000042 2/11736 0/8130 2/3606
1 c.2680A>C r.(?) p.(Asn894His) g.60572489A>C Copied from the Exome Variant Server PHLPP1_000046 5/11752 4/8148 1/3604
1 c.2708+21G>T r.(=) p.(=) g.60572538G>T Copied from the Exome Variant Server PHLPP1_000048 1/11736 1/8140 0/3596
1 c.2718A>G r.(=) p.(=) g.60582155A>G Copied from the Exome Variant Server PHLPP1_000051 1/11806 0/8160 1/3646
1 c.2777A>G r.(?) p.(His926Arg) g.60582214A>G Copied from the Exome Variant Server PHLPP1_000053 1/11860 1/8182 0/3678
1 c.2789G>A r.(?) p.(Cys930Tyr) g.60582226G>A Copied from the Exome Variant Server PHLPP1_000055 1/11858 0/8182 1/3676
1 c.2804+41G>T r.(=) p.(=) g.60582282G>T Copied from the Exome Variant Server PHLPP1_000057 4/11842 0/8192 4/3650
1 c.2805-45C>A r.(=) p.(=) g.60587147C>A Copied from the Exome Variant Server PHLPP1_000059 11/11598 0/8038 11/3560
1 c.2805-12C>G r.(=) p.(=) g.60587180C>G Copied from the Exome Variant Server PHLPP1_000062 8/11726 7/8130 1/3596
1 c.2862G>A r.(=) p.(=) g.60587249G>A Copied from the Exome Variant Server PHLPP1_000063 8/11902 0/8186 8/3716
1 c.2888C>T r.(?) p.(Ser963Leu) g.60587275C>T Copied from the Exome Variant Server PHLPP1_000065 1/11950 1/8202 0/3748
1 c.2960+20T>G r.(=) p.(=) g.60587367T>G Copied from the Exome Variant Server PHLPP1_000068 1/11992 1/8224 0/3768
1 c.2961-26C>A r.(=) p.(=) g.60608925C>A Copied from the Exome Variant Server PHLPP1_000070 1/11902 1/8194 0/3708
1 c.2961-16C>T r.(=) p.(=) g.60608935C>T Copied from the Exome Variant Server PHLPP1_000071 1/11902 0/8198 1/3704
1 c.2984C>T r.(?) p.(Ala995Val) g.60608974C>T Copied from the Exome Variant Server PHLPP1_000073 1/11942 0/8212 1/3730
1 c.3011C>T r.(?) p.(Ala1004Val) g.60609001C>T Copied from the Exome Variant Server PHLPP1_000074 1/11970 0/8228 1/3742
1 c.3021C>T r.(=) p.(=) g.60609011C>T Copied from the Exome Variant Server PHLPP1_000075 6/11964 0/8234 6/3730
1 c.3099G>A r.(=) p.(=) g.60609089G>A Copied from the Exome Variant Server PHLPP1_000076 1/11972 1/8218 0/3754
1 c.3102A>G r.(=) p.(=) g.60609092A>G Copied from the Exome Variant Server PHLPP1_000077 1/11986 1/8224 0/3762
1 c.3110A>G r.(?) p.(His1037Arg) g.60609100A>G Copied from the Exome Variant Server PHLPP1_000078 1/11970 1/8220 0/3750
1 c.3140G>A r.(?) p.(Arg1047Gln) g.60609130G>A Copied from the Exome Variant Server PHLPP1_000079 4/11932 0/8194 4/3738
1 c.3161+46G>A r.(=) p.(=) g.60609197G>A Copied from the Exome Variant Server PHLPP1_000080 198/11914 2/8196 196/3718
1 c.3162-48C>T r.(=) p.(=) g.60612294C>T Copied from the Exome Variant Server PHLPP1_000081 1/11502 1/7966 0/3536
1 c.3170C>T r.(?) p.(Ala1057Val) g.60612350C>T Copied from the Exome Variant Server PHLPP1_000082 1/11864 1/8176 0/3688
1 c.3171G>A r.(=) p.(=) g.60612351G>A Copied from the Exome Variant Server PHLPP1_000083 4/11882 0/8180 4/3702
1 c.3250C>T r.(?) p.(Arg1084Cys) g.60612430C>T Copied from the Exome Variant Server PHLPP1_000084 1/12222 1/8316 0/3906
1 c.3261C>T r.(=) p.(=) g.60612441C>T Copied from the Exome Variant Server PHLPP1_000085 1/12238 1/8320 0/3918
1 c.3262G>A r.(?) p.(Val1088Met) g.60612442G>A Copied from the Exome Variant Server PHLPP1_000086 1/12234 1/8318 0/3916
1 c.3276C>T r.(=) p.(=) g.60612456C>T Copied from the Exome Variant Server PHLPP1_000087 2/12220 0/8308 2/3912
1 c.3283A>G r.(?) p.(Ile1095Val) g.60612463A>G Copied from the Exome Variant Server PHLPP1_000088 1/12216 1/8308 0/3908
1 c.3296C>A r.(?) p.(Pro1099His) g.60612476C>A Copied from the Exome Variant Server PHLPP1_000089 1/12180 0/8296 1/3884
1 c.3297C>T r.(=) p.(=) g.60612477C>T Copied from the Exome Variant Server PHLPP1_000090 1/12178 1/8296 0/3882
1 c.3324+32T>G r.(=) p.(=) g.60612536T>G Copied from the Exome Variant Server PHLPP1_000091 4664/12040 3211/8244 1453/3796
1 c.3324+52G>T r.(=) p.(=) g.60612556G>T Copied from the Exome Variant Server PHLPP1_000092 1/6292 1/4262 0/2030
1 c.3325-35C>T r.(=) p.(=) g.60625827C>T Copied from the Exome Variant Server PHLPP1_000093 1/11982 1/8218 0/3764
1 c.3325-32C>G r.(=) p.(=) g.60625830C>G Copied from the Exome Variant Server PHLPP1_000094 65/11990 58/8224 7/3766
1 c.3325-31T>C r.(=) p.(=) g.60625831T>C Copied from the Exome Variant Server PHLPP1_000095 2/11990 0/8226 2/3764
1 c.3325-19G>T r.(=) p.(=) g.60625843G>T Copied from the Exome Variant Server PHLPP1_000096 1/12018 0/8232 1/3786
1 c.3325-4T>C r.spl? p.? g.60625858T>C Copied from the Exome Variant Server PHLPP1_000097 1/12020 1/8228 0/3792
1 c.3353G>C r.(?) p.(Ser1118Thr) g.60625890G>C Copied from the Exome Variant Server PHLPP1_000098 11/12112 0/8272 11/3840
1 c.3358G>A r.(?) p.(Val1120Ile) g.60625895G>A Copied from the Exome Variant Server PHLPP1_000099 1/12136 1/8278 0/3858
1 c.3417G>A r.(=) p.(=) g.60625954G>A Copied from the Exome Variant Server PHLPP1_000100 2/12140 0/8286 2/3854
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