Unique variants in gene PLEKHB2

Information The variants shown are described using the NM_017958.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.-8-42T>C r.(=) p.(=) g.131878465T>C Copied from the Exome Variant Server PLEKHB2_000001 1/13006 0/8600 1/4406
1 c.-8-12T>C r.(=) p.(=) g.131878495T>C Copied from the Exome Variant Server PLEKHB2_000002 200/13006 1/8600 199/4406
1 c.26T>A r.(?) p.(Leu9*) g.131878540T>A Copied from the Exome Variant Server PLEKHB2_000003 1/13006 1/8600 0/4406
1 c.37+17C>T r.(=) p.(=) g.131878568C>T Copied from the Exome Variant Server PLEKHB2_000004 1/13006 0/8600 1/4406
1 c.37+18G>A r.(=) p.(=) g.131878569G>A Copied from the Exome Variant Server PLEKHB2_000006 1/13006 0/8600 1/4406
1 c.37+24C>T r.(=) p.(=) g.131878575C>T Copied from the Exome Variant Server PLEKHB2_000008 332/13006 11/8600 321/4406
1 c.37+54T>C r.(=) p.(=) g.131878605T>C Copied from the Exome Variant Server PLEKHB2_000010 2/4566 0/3182 2/1384
1 c.38-39_38-38insC r.(=) p.(=) g.131883287_131883288insC Copied from the Exome Variant Server PLEKHB2_000012 1/12500 0/8242 1/4258
1 c.38-38del r.(=) p.(=) g.131883288del Copied from the Exome Variant Server PLEKHB2_000016 2078/12500 1366/8242 712/4258
1 c.38-38dup r.(=) p.(=) g.131883288dup Copied from the Exome Variant Server PLEKHB2_000014 1288/12500 784/8242 504/4258
1 c.38-21C>T r.(=) p.(=) g.131883305C>T Copied from the Exome Variant Server PLEKHB2_000018 1/13006 1/8600 0/4406
1 c.63G>C r.(?) p.(Lys21Asn) g.131883351G>C Copied from the Exome Variant Server PLEKHB2_000020 1/13006 1/8600 0/4406
1 c.83C>T r.(?) p.(Ser28Leu) g.131883371C>T Copied from the Exome Variant Server PLEKHB2_000022 2/13006 2/8600 0/4406
1 c.118C>T r.(?) p.(Arg40Trp) g.131883406C>T Copied from the Exome Variant Server PLEKHB2_000024 1/13006 1/8600 0/4406
1 c.169C>T r.(?) p.(Arg57Cys) g.131883457C>T Copied from the Exome Variant Server PLEKHB2_000026 5/13006 0/8600 5/4406
1 c.170G>T r.(?) p.(Arg57Leu) g.131883458G>T Copied from the Exome Variant Server PLEKHB2_000005 1/13006 1/8600 0/4406
1 c.184T>C r.(?) p.(Cys62Arg) g.131883472T>C Copied from the Exome Variant Server PLEKHB2_000007 1/13006 0/8600 1/4406
1 c.189G>T r.(=) p.(=) g.131883477G>T Copied from the Exome Variant Server PLEKHB2_000009 2/13006 1/8600 1/4406
1 c.190+22A>G r.(=) p.(=) g.131883500A>G Copied from the Exome Variant Server PLEKHB2_000011 66/13006 40/8600 26/4406
1 c.190+23A>G r.(=) p.(=) g.131883501A>G Copied from the Exome Variant Server PLEKHB2_000013 1/13006 1/8600 0/4406
1 c.190+51T>C r.(=) p.(=) g.131883529T>C Copied from the Exome Variant Server PLEKHB2_000015 1/13006 1/8600 0/4406
1 c.191-50G>A r.(=) p.(=) g.131884207G>A Copied from the Exome Variant Server PLEKHB2_000017 14/13004 13/8600 1/4404
1 c.191-43G>T r.(=) p.(=) g.131884214G>T Copied from the Exome Variant Server PLEKHB2_000019 1/13004 1/8598 0/4406
1 c.191-3T>C r.spl? p.? g.131884254T>C Copied from the Exome Variant Server PLEKHB2_000021 3/13006 3/8600 0/4406
1 c.245G>A r.(?) p.(Arg82Gln) g.131884311G>A Copied from the Exome Variant Server PLEKHB2_000023 1/13006 1/8600 0/4406
1 c.259A>G r.(?) p.(Ile87Val) g.131884325A>G Copied from the Exome Variant Server PLEKHB2_000025 1/13006 0/8600 1/4406
1 c.293+10G>C r.(=) p.(=) g.131884369G>C Copied from the Exome Variant Server PLEKHB2_000027 5/13006 0/8600 5/4406
1 c.293+17_293+18del r.(=) p.(=) g.131884376_131884377del Copied from the Exome Variant Server PLEKHB2_000028 1/12520 1/8254 0/4266
1 c.294-25A>C r.(=) p.(=) g.131888269A>C Copied from the Exome Variant Server PLEKHB2_000029 13/13006 11/8600 2/4406
1 c.294-19C>T r.(=) p.(=) g.131888275C>T Copied from the Exome Variant Server PLEKHB2_000030 1/13006 0/8600 1/4406
1 c.294-4C>T r.spl? p.? g.131888290C>T Copied from the Exome Variant Server PLEKHB2_000031 1/13006 0/8600 1/4406
1 c.333+9C>G r.(=) p.(=) g.131888342C>G Copied from the Exome Variant Server PLEKHB2_000032 1/13006 1/8600 0/4406
1 c.333+29del r.(=) p.(=) g.131888362del Copied from the Exome Variant Server PLEKHB2_000034 2227/12520 1445/8254 782/4266
1 c.333+29dup r.(=) p.(=) g.131888362dup Copied from the Exome Variant Server PLEKHB2_000033 1578/12520 1059/8254 519/4266
1 c.334-32G>A r.(=) p.(=) g.131890443G>A Copied from the Exome Variant Server PLEKHB2_000035 1/13006 1/8600 0/4406
1 c.334-9C>T r.(=) p.(=) g.131890466C>T Copied from the Exome Variant Server PLEKHB2_000036 1/13006 1/8600 0/4406
1 c.334-4G>A r.spl? p.? g.131890471G>A Copied from the Exome Variant Server PLEKHB2_000037 1/13006 0/8600 1/4406
1 c.350C>T r.(?) p.(Ala117Val) g.131890491C>T Copied from the Exome Variant Server PLEKHB2_000038 4/13006 3/8600 1/4406
1 c.356T>C r.(?) p.(Met119Thr) g.131890497T>C Copied from the Exome Variant Server PLEKHB2_000039 1/13006 1/8600 0/4406
1 c.404A>G r.(?) p.(Tyr135Cys) g.131890545A>G Copied from the Exome Variant Server PLEKHB2_000040 9/13006 8/8600 1/4406
1 c.413C>T r.(?) p.(Pro138Leu) g.131890554C>T Copied from the Exome Variant Server PLEKHB2_000041 1/13006 0/8600 1/4406
1 c.423+17G>C r.(=) p.(=) g.131890581G>C Copied from the Exome Variant Server PLEKHB2_000042 4/13006 0/8600 4/4406
1 c.423+25G>C r.(=) p.(=) g.131890589G>C Copied from the Exome Variant Server PLEKHB2_000043 1/13006 1/8600 0/4406
1 c.423+27G>T r.(=) p.(=) g.131890591G>T Copied from the Exome Variant Server PLEKHB2_000044 7/13006 4/8600 3/4406
1 c.424-19G>T r.(=) p.(=) g.131897724G>T Copied from the Exome Variant Server PLEKHB2_000045 32/13006 28/8600 4/4406
1 c.424-18C>A r.(=) p.(=) g.131897725C>A Copied from the Exome Variant Server PLEKHB2_000046 7/13006 0/8600 7/4406
1 c.424-15G>A r.(=) p.(=) g.131897728G>A Copied from the Exome Variant Server PLEKHB2_000047 34/13006 0/8600 34/4406
1 c.431G>A r.(?) p.(Gly144Asp) g.131897750G>A Copied from the Exome Variant Server PLEKHB2_000048 1/13006 1/8600 0/4406
1 c.444C>G r.(?) p.(Tyr148*) g.131897763C>G Copied from the Exome Variant Server PLEKHB2_000049 12/13006 12/8600 0/4406
1 c.450T>C r.(=) p.(=) g.131897769T>C Copied from the Exome Variant Server PLEKHB2_000050 1/13006 1/8600 0/4406
1 c.472G>C r.(?) p.(Val158Leu) g.131897791G>C Copied from the Exome Variant Server PLEKHB2_000051 1/13006 0/8600 1/4406
1 c.475G>A r.(?) p.(Val159Ile) g.131897794G>A Copied from the Exome Variant Server PLEKHB2_000052 1/13006 1/8600 0/4406
1 c.497C>A r.(?) p.(Ala166Glu) g.131897816C>A Copied from the Exome Variant Server PLEKHB2_000054 1/13006 1/8600 0/4406
1 c.498G>C r.(=) p.(=) g.131897817G>C Copied from the Exome Variant Server PLEKHB2_000056 6/13006 0/8600 6/4406
1 c.529+9C>T r.(=) p.(=) g.131897857C>T Copied from the Exome Variant Server PLEKHB2_000058 1/13006 1/8600 0/4406
1 c.529+12C>T r.(=) p.(=) g.131897860C>T Copied from the Exome Variant Server PLEKHB2_000060 3/13006 3/8600 0/4406
1 c.529+34C>G r.(=) p.(=) g.131897882C>G Copied from the Exome Variant Server PLEKHB2_000062 1/13006 1/8600 0/4406
1 c.530-50A>G r.(=) p.(=) g.131904160A>G Copied from the Exome Variant Server PLEKHB2_000064 1/13006 0/8600 1/4406
1 c.530-36G>A r.(=) p.(=) g.131904174G>A Copied from the Exome Variant Server PLEKHB2_000066 2/13006 2/8600 0/4406
1 c.530-32C>T r.(=) p.(=) g.131904178C>T Copied from the Exome Variant Server PLEKHB2_000068 1/13006 0/8600 1/4406
1 c.530-30C>G r.(=) p.(=) g.131904180C>G Copied from the Exome Variant Server PLEKHB2_000070 1/13006 1/8600 0/4406
1 c.530-23_530-21del r.(=) p.(=) g.131904187_131904189del Copied from the Exome Variant Server PLEKHB2_000072 9/12520 6/8254 3/4266
1 c.530-21G>T r.(=) p.(=) g.131904189G>T Copied from the Exome Variant Server PLEKHB2_000074 24/13006 0/8600 24/4406
1 c.530-18A>G r.(=) p.(=) g.131904192A>G Copied from the Exome Variant Server PLEKHB2_000075 3/13006 0/8600 3/4406
1 c.530-7C>T r.(=) p.(=) g.131904203C>T Copied from the Exome Variant Server PLEKHB2_000076 2/13006 0/8600 2/4406
1 c.564C>T r.(=) p.(=) g.131904244C>T Copied from the Exome Variant Server PLEKHB2_000053 3/13006 3/8600 0/4406
1 c.568C>T r.(?) p.(Arg190*) g.131904248C>T Copied from the Exome Variant Server PLEKHB2_000055 1/13006 0/8600 1/4406
1 c.575G>A r.(?) p.(Arg192His) g.131904255G>A Copied from the Exome Variant Server PLEKHB2_000057 1/13006 0/8600 1/4406
1 c.580C>T r.(?) p.(Arg194*) g.131904260C>T Copied from the Exome Variant Server PLEKHB2_000059 1/13006 1/8600 0/4406
1 c.589G>A r.(?) p.(Asp197Asn) g.131904269G>A Copied from the Exome Variant Server PLEKHB2_000061 1/13006 1/8600 0/4406
1 c.630G>A r.(=) p.(=) g.131904310G>A Copied from the Exome Variant Server PLEKHB2_000063 1/13006 1/8600 0/4406
1 c.651A>G r.(=) p.(=) g.131904331A>G Copied from the Exome Variant Server PLEKHB2_000065 2/13006 2/8600 0/4406
1 c.*4C>T r.(=) p.(=) g.131904350C>T Copied from the Exome Variant Server PLEKHB2_000067 1/13006 1/8600 0/4406
1 c.*13C>A r.(=) p.(=) g.131904359C>A Copied from the Exome Variant Server PLEKHB2_000069 1/13006 1/8600 0/4406
1 c.*39C>A r.(=) p.(=) g.131904385C>A Copied from the Exome Variant Server PLEKHB2_000071 2/13006 1/8600 1/4406
1 c.*53_*55del r.(=) p.(=) g.131904399_131904401del Copied from the Exome Variant Server PLEKHB2_000073 24/12520 0/8254 24/4266
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