Unique variants in gene PPP1R3F

Information The variants shown are described using the NM_033215.4 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.195_197del r.(?) p.(Ala69del) g.49126527_49126529del Copied from the Exome Variant Server PPP1R3F_000001 9/1555 8/1169 1/386
1 c.217_219del r.(?) p.(Gly78del) g.49126549_49126551del Copied from the Exome Variant Server PPP1R3F_000002 38/1979 22/1486 16/493
1 c.324C>T r.(=) p.(=) g.49126656C>T Copied from the Exome Variant Server PPP1R3F_000004 444/8631 412/5583 32/3048
1 c.331del r.(?) p.(Tyr114Thrfs*58) g.49126663del Copied from the Exome Variant Server PPP1R3F_000005 30/7883 23/5089 7/2794
1 c.382C>T r.(=) p.(=) g.49126714C>T Copied from the Exome Variant Server PPP1R3F_000007 540/8377 4/5433 536/2944
1 c.570C>T r.(=) p.(=) g.49126902C>T Copied from the Exome Variant Server PPP1R3F_000009 1/10274 0/6564 1/3710
1 c.616G>T r.(?) p.(Ala206Ser) g.49126948G>T Copied from the Exome Variant Server PPP1R3F_000011 1/10141 1/6444 0/3697
1 c.676C>T r.(?) p.(Pro226Ser) g.49127008C>T Copied from the Exome Variant Server PPP1R3F_000013 1/10371 1/6613 0/3758
1 c.679G>A r.(?) p.(Gly227Ser) g.49127011G>A Copied from the Exome Variant Server PPP1R3F_000015 3/10340 2/6594 1/3746
1 c.711C>T r.(=) p.(=) g.49127043C>T Copied from the Exome Variant Server PPP1R3F_000017 3/10153 0/6436 3/3717
1 c.794A>G r.(?) p.(Tyr265Cys) g.49127126A>G Copied from the Exome Variant Server PPP1R3F_000019 1/10559 1/6726 0/3833
1 c.832G>A r.(?) p.(Gly278Ser) g.49127164G>A Copied from the Exome Variant Server PPP1R3F_000021 1/10556 1/6724 0/3832
1 c.843C>T r.(=) p.(=) g.49127175C>T Copied from the Exome Variant Server PPP1R3F_000003 4/10556 3/6726 1/3830
1 c.854T>G r.(?) p.(Leu285Arg) g.49127186T>G Copied from the Exome Variant Server PPP1R3F_000006 1/10557 1/6726 0/3831
1 c.867C>T r.(=) p.(=) g.49127199C>T Copied from the Exome Variant Server PPP1R3F_000008 1/10551 1/6720 0/3831
1 c.871C>G r.(?) p.(Pro291Ala) g.49127203C>G Copied from the Exome Variant Server PPP1R3F_000010 1/10548 1/6719 0/3829
1 c.906G>C r.(?) p.(Gln302His) g.49127238G>C Copied from the Exome Variant Server PPP1R3F_000012 1/10338 1/6595 0/3743
1 c.1004+16G>T r.(=) p.(=) g.49127352G>T Copied from the Exome Variant Server PPP1R3F_000014 3/10274 3/6544 0/3730
1 c.1005-10T>C r.(=) p.(=) g.49137859T>C Copied from the Exome Variant Server PPP1R3F_000016 1/10563 1/6728 0/3835
1 c.1029G>A r.(=) p.(=) g.49137893G>A Copied from the Exome Variant Server PPP1R3F_000018 2/10563 2/6728 0/3835
1 c.1052T>C r.(?) p.(Phe351Ser) g.49137916T>C Copied from the Exome Variant Server PPP1R3F_000020 990/10563 5/6728 985/3835
1 c.1060+20C>T r.(=) p.(=) g.49137944C>T Copied from the Exome Variant Server PPP1R3F_000022 2/10563 1/6728 1/3835
1 c.1061-28C>T r.(=) p.(=) g.49138416C>T Copied from the Exome Variant Server PPP1R3F_000023 20/10563 0/6728 20/3835
1 c.1061-25A>G r.(=) p.(=) g.49138419A>G Copied from the Exome Variant Server PPP1R3F_000024 1/10563 1/6728 0/3835
1 c.1068T>C r.(=) p.(=) g.49138451T>C Copied from the Exome Variant Server PPP1R3F_000025 1/10563 1/6728 0/3835
1 c.1143+37A>G r.(=) p.(=) g.49138563A>G Copied from the Exome Variant Server PPP1R3F_000026 2/10562 2/6727 0/3835
1 c.1144-37_1144-36insT r.(=) p.(=) g.49142259_49142260insT Copied from the Exome Variant Server PPP1R3F_000027 1/10201 0/6481 1/3720
1 c.1144-13G>A r.(=) p.(=) g.49142283G>A Copied from the Exome Variant Server PPP1R3F_000028 1/10563 1/6728 0/3835
1 c.1152C>T r.(=) p.(=) g.49142304C>T Copied from the Exome Variant Server PPP1R3F_000029 92/10563 87/6728 5/3835
1 c.1238C>T r.(?) p.(Pro413Leu) g.49142390C>T Copied from the Exome Variant Server PPP1R3F_000030 1/10563 0/6728 1/3835
1 c.1239G>C r.(=) p.(=) g.49142391G>C Copied from the Exome Variant Server PPP1R3F_000031 2/10563 1/6728 1/3835
1 c.1316C>T r.(?) p.(Ala439Val) g.49142468C>T Copied from the Exome Variant Server PPP1R3F_000033 2/10540 2/6713 0/3827
1 c.1347G>A r.(=) p.(=) g.49142499G>A Copied from the Exome Variant Server PPP1R3F_000035 3/10514 0/6691 3/3823
1 c.1385C>T r.(?) p.(Ser462Leu) g.49142537C>T Copied from the Exome Variant Server PPP1R3F_000037 9/10529 0/6711 9/3818
1 c.1399G>A r.(?) p.(Gly467Arg) g.49142551G>A Copied from the Exome Variant Server PPP1R3F_000038 18/10512 8/6695 10/3817
1 c.1416G>A r.(=) p.(=) g.49142568G>A Copied from the Exome Variant Server PPP1R3F_000041 2/10508 0/6697 2/3811
1 c.1452C>T r.(=) p.(=) g.49142604C>T Copied from the Exome Variant Server PPP1R3F_000042 2/10527 0/6705 2/3822
1 c.1505_1506del r.(?) p.(Ala502Glyfs*40) g.49142657_49142658del Copied from the Exome Variant Server PPP1R3F_000032 44/10033 21/6390 23/3643
1 c.1589C>T r.(?) p.(Thr530Met) g.49142741C>T Copied from the Exome Variant Server PPP1R3F_000034 1/10548 1/6720 0/3828
1 c.1590G>A r.(=) p.(=) g.49142742G>A Copied from the Exome Variant Server PPP1R3F_000036 1/10550 0/6721 1/3829
1 c.1662G>A r.(=) p.(=) g.49142814G>A Copied from the Exome Variant Server PPP1R3F_000039 1/10557 1/6724 0/3833
1 c.1675C>G r.(?) p.(Arg559Gly) g.49142827C>G Copied from the Exome Variant Server PPP1R3F_000040 1/10560 1/6726 0/3834
1 c.1749C>G r.(=) p.(=) g.49142901C>G Copied from the Exome Variant Server PPP1R3F_000043 10/10562 0/6728 10/3834
1 c.1761C>G r.(=) p.(=) g.49142913C>G Copied from the Exome Variant Server PPP1R3F_000044 1/10561 0/6727 1/3834
1 c.1778A>G r.(?) p.(Asp593Gly) g.49142930A>G Copied from the Exome Variant Server PPP1R3F_000045 57/10562 1/6728 56/3834
1 c.1793C>T r.(?) p.(Ser598Leu) g.49142945C>T Copied from the Exome Variant Server PPP1R3F_000046 2/10562 1/6728 1/3834
1 c.1819C>T r.(?) p.(Arg607Cys) g.49142971C>T Copied from the Exome Variant Server PPP1R3F_000047 1/10563 1/6728 0/3835
1 c.1835C>T r.(?) p.(Thr612Met) g.49142987C>T Copied from the Exome Variant Server PPP1R3F_000048 1/10562 0/6728 1/3834
1 c.1836G>A r.(=) p.(=) g.49142988G>A Copied from the Exome Variant Server PPP1R3F_000049 2/10562 1/6728 1/3834
1 c.1880A>G r.(?) p.(Asp627Gly) g.49143032A>G Copied from the Exome Variant Server PPP1R3F_000050 2/10563 0/6728 2/3835
1 c.1881C>T r.(=) p.(=) g.49143033C>T Copied from the Exome Variant Server PPP1R3F_000051 64/10563 0/6728 64/3835
1 c.1927G>A r.(?) p.(Glu643Lys) g.49143079G>A Copied from the Exome Variant Server PPP1R3F_000052 1/10563 1/6728 0/3835
1 c.2003A>C r.(?) p.(Glu668Ala) g.49143155A>C Copied from the Exome Variant Server PPP1R3F_000053 1/10562 1/6728 0/3834
1 c.2048G>A r.(?) p.(Gly683Asp) g.49143200G>A Copied from the Exome Variant Server PPP1R3F_000054 58/10561 1/6727 57/3834
1 c.2118C>T r.(=) p.(=) g.49143270C>T Copied from the Exome Variant Server PPP1R3F_000055 1/10562 1/6727 0/3835
1 c.2136C>T r.(=) p.(=) g.49143288C>T Copied from the Exome Variant Server PPP1R3F_000056 25/10560 19/6727 6/3833
1 c.2148C>G r.(=) p.(=) g.49143300C>G Copied from the Exome Variant Server PPP1R3F_000057 1/10562 1/6728 0/3834
1 c.2161A>C r.(=) p.(=) g.49143313A>C Copied from the Exome Variant Server PPP1R3F_000058 1/10563 0/6728 1/3835
1 c.2165C>T r.(?) p.(Pro722Leu) g.49143317C>T Copied from the Exome Variant Server PPP1R3F_000059 1/10563 0/6728 1/3835
1 c.2203A>G r.(?) p.(Ser735Gly) g.49143355A>G Copied from the Exome Variant Server PPP1R3F_000060 1/10563 1/6728 0/3835
1 c.2258G>A r.(?) p.(Cys753Tyr) g.49143410G>A Copied from the Exome Variant Server PPP1R3F_000061 1/10563 0/6728 1/3835
1 c.2300T>G r.(?) p.(Leu767Arg) g.49143452T>G Copied from the Exome Variant Server PPP1R3F_000062 1/10563 0/6728 1/3835
1 c.2313C>T r.(=) p.(=) g.49143465C>T Copied from the Exome Variant Server PPP1R3F_000063 1/10563 1/6728 0/3835
1 c.2346C>T r.(=) p.(=) g.49143498C>T Copied from the Exome Variant Server PPP1R3F_000064 1/10563 0/6728 1/3835
1 c.2347G>A r.(?) p.(Gly783Ser) g.49143499G>A Copied from the Exome Variant Server PPP1R3F_000065 1/10563 0/6728 1/3835
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