Unique variants in gene CHP2

Information The variants shown are described using the NM_022097.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.11G>A r.(?) p.(Arg4His) g.23766381G>A Copied from the Exome Variant Server CHP2_000001 1/12742 0/8444 1/4298
1 c.67+49G>T r.(=) p.(=) g.23766486G>T Copied from the Exome Variant Server CHP2_000002 3/12254 3/8170 0/4084
1 c.68-39G>A r.(=) p.(=) g.23766943G>A Copied from the Exome Variant Server CHP2_000003 4/12990 0/8598 4/4392
1 c.68-32C>T r.(=) p.(=) g.23766950C>T Copied from the Exome Variant Server CHP2_000004 9/12990 2/8598 7/4392
1 c.68-26C>G r.(=) p.(=) g.23766956C>G Copied from the Exome Variant Server CHP2_000005 88/12992 1/8600 87/4392
1 c.68-4G>T r.spl? p.? g.23766978G>T Copied from the Exome Variant Server CHP2_000006 41/12992 0/8600 41/4392
1 c.90C>A r.(=) p.(=) g.23767004C>A Copied from the Exome Variant Server CHP2_000007 11/12994 0/8600 11/4394
1 c.109G>C r.(?) p.(Ala37Pro) g.23767023G>C Copied from the Exome Variant Server CHP2_000008 1/12994 1/8600 0/4394
1 c.137T>C r.(?) p.(Leu46Pro) g.23767051T>C Copied from the Exome Variant Server CHP2_000009 1/12994 1/8600 0/4394
1 c.140+17C>T r.(=) p.(=) g.23767071C>T Copied from the Exome Variant Server CHP2_000010 1/12994 0/8600 1/4394
1 c.140+34C>T r.(=) p.(=) g.23767088C>T Copied from the Exome Variant Server CHP2_000011 1/12994 0/8600 1/4394
1 c.140+52G>A r.(=) p.(=) g.23767106G>A Copied from the Exome Variant Server CHP2_000012 14/7260 0/4618 14/2642
1 c.141-50C>G r.(=) p.(=) g.23767118C>G Copied from the Exome Variant Server CHP2_000013 11/12994 0/8600 11/4394
1 c.141-45C>T r.(=) p.(=) g.23767123C>T Copied from the Exome Variant Server CHP2_000014 1/12994 1/8600 0/4394
1 c.141-44G>A r.(=) p.(=) g.23767124G>A Copied from the Exome Variant Server CHP2_000015 582/12994 6/8600 576/4394
1 c.141-21C>T r.(=) p.(=) g.23767147C>T Copied from the Exome Variant Server CHP2_000016 1/12994 1/8600 0/4394
1 c.143G>A r.(?) p.(Arg48His) g.23767170G>A Copied from the Exome Variant Server CHP2_000017 18/12994 0/8600 18/4394
1 c.171C>T r.(=) p.(=) g.23767198C>T Copied from the Exome Variant Server CHP2_000018 1/12994 0/8600 1/4394
1 c.175G>A r.(?) p.(Val59Met) g.23767202G>A Copied from the Exome Variant Server CHP2_000019 5/12994 5/8600 0/4394
1 c.200T>C r.(?) p.(Ile67Thr) g.23767227T>C Copied from the Exome Variant Server CHP2_000020 2/12994 2/8600 0/4394
1 c.208T>G r.(?) p.(Phe70Val) g.23767235T>G Copied from the Exome Variant Server CHP2_000021 1/12994 1/8600 0/4394
1 c.221+32C>T r.(=) p.(=) g.23767280C>T Copied from the Exome Variant Server CHP2_000022 1/12994 0/8600 1/4394
1 c.222-28C>T r.(=) p.(=) g.23767356C>T Copied from the Exome Variant Server CHP2_000023 41/12994 0/8600 41/4394
1 c.225del r.(?) p.(Gln76Serfs*18) g.23767387del Copied from the Exome Variant Server CHP2_000024 47/12518 24/8254 23/4264
1 c.230G>A r.(?) p.(Arg77Gln) g.23767392G>A Copied from the Exome Variant Server CHP2_000025 7/12994 0/8600 7/4394
1 c.246C>T r.(=) p.(=) g.23767408C>T Copied from the Exome Variant Server CHP2_000026 1/12994 1/8600 0/4394
1 c.289G>A r.(?) p.(Asp97Asn) g.23767451G>A Copied from the Exome Variant Server CHP2_000027 2/12994 2/8600 0/4394
1 c.291C>G r.(?) p.(Asp97Glu) g.23767453C>G Copied from the Exome Variant Server CHP2_000028 1/12994 0/8600 1/4394
1 c.352+2T>G r.spl? p.? g.23767516T>G Copied from the Exome Variant Server CHP2_000029 1/12994 1/8600 0/4394
1 c.353-37G>C r.(=) p.(=) g.23767672G>C Copied from the Exome Variant Server CHP2_000030 1/12994 1/8600 0/4394
1 c.353-30C>A r.(=) p.(=) g.23767679C>A Copied from the Exome Variant Server CHP2_000031 1/12994 1/8600 0/4394
1 c.380G>C r.(?) p.(Arg127Pro) g.23767736G>C Copied from the Exome Variant Server CHP2_000032 177/12994 1/8600 176/4394
1 c.381C>T r.(=) p.(=) g.23767737C>T Copied from the Exome Variant Server CHP2_000033 1/12994 1/8600 0/4394
1 c.382G>T r.(?) p.(Asp128Tyr) g.23767738G>T Copied from the Exome Variant Server CHP2_000034 2/12994 2/8600 0/4394
1 c.384T>C r.(=) p.(=) g.23767740T>C Copied from the Exome Variant Server CHP2_000035 1/12994 1/8600 0/4394
1 c.385del r.(?) p.(Lys130Argfs*13) g.23767741del Copied from the Exome Variant Server CHP2_000036 1/12518 1/8254 0/4264
1 c.414+32G>A r.(=) p.(=) g.23767802G>A Copied from the Exome Variant Server CHP2_000037 1/12994 1/8600 0/4394
1 c.415-41C>T r.(=) p.(=) g.23768481C>T Copied from the Exome Variant Server CHP2_000038 126/12994 116/8600 10/4394
1 c.415-40G>A r.(=) p.(=) g.23768482G>A Copied from the Exome Variant Server CHP2_000039 2/12994 2/8600 0/4394
1 c.415-3C>T r.spl? p.? g.23768519C>T Copied from the Exome Variant Server CHP2_000040 1/12994 1/8600 0/4394
1 c.422G>A r.(?) p.(Arg141His) g.23768529G>A Copied from the Exome Variant Server CHP2_000041 10/12994 8/8600 2/4394
1 c.476G>A r.(?) p.(Arg159His) g.23768583G>A Copied from the Exome Variant Server CHP2_000042 1/12994 0/8600 1/4394
1 c.504G>C r.(=) p.(=) g.23768611G>C Copied from the Exome Variant Server CHP2_000043 8/12994 8/8600 0/4394
1 c.523G>A r.(?) p.(Val175Met) g.23768630G>A Copied from the Exome Variant Server CHP2_000044 1/12994 1/8600 0/4394
1 c.537+9G>T r.(=) p.(=) g.23768653G>T Copied from the Exome Variant Server CHP2_000045 1/12994 1/8600 0/4394
1 c.537+16G>A r.(=) p.(=) g.23768660G>A Copied from the Exome Variant Server CHP2_000046 1/12994 1/8600 0/4394
1 c.537+20T>C r.(=) p.(=) g.23768664T>C Copied from the Exome Variant Server CHP2_000047 4/12994 3/8600 1/4394
1 c.537+34T>A r.(=) p.(=) g.23768678T>A Copied from the Exome Variant Server CHP2_000048 1/12994 1/8600 0/4394
1 c.537+47G>T r.(=) p.(=) g.23768691G>T Copied from the Exome Variant Server CHP2_000049 1/12994 0/8600 1/4394
1 c.538-49T>G r.(=) p.(=) g.23768802T>G Copied from the Exome Variant Server CHP2_000050 8682/12994 5896/8600 2786/4394
1 c.538-30C>T r.(=) p.(=) g.23768821C>T Copied from the Exome Variant Server CHP2_000051 1/12994 0/8600 1/4394
1 c.538-18C>T r.(=) p.(=) g.23768833C>T Copied from the Exome Variant Server CHP2_000052 1/12994 0/8600 1/4394
1 c.556G>A r.(?) p.(Val186Ile) g.23768869G>A Copied from the Exome Variant Server CHP2_000053 6/12994 5/8600 1/4394
1 c.562C>T r.(?) p.(Gln188*) g.23768875C>T Copied from the Exome Variant Server CHP2_000054 44/12994 43/8600 1/4394
1 c.*3del r.(=) p.(=) g.23768907del Copied from the Exome Variant Server CHP2_000055 1/12500 1/8240 0/4260
1 c.*4C>T r.(=) p.(=) g.23768908C>T Copied from the Exome Variant Server CHP2_000056 500/12994 5/8600 495/4394
1 c.*5G>A r.(=) p.(=) g.23768909G>A Copied from the Exome Variant Server CHP2_000057 2/12994 0/8600 2/4394
1 c.*44T>G r.(=) p.(=) g.23768948T>G Copied from the Exome Variant Server CHP2_000058 1/12994 0/8600 1/4394
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