All transcript variants in gene ELK4

Information The variants shown are described using the NM_021795.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-9-25A>G r.(=) p.(=) g.205593044T>C Copied from the Exome Variant Server ELK4_000056 1/13006 0/8600 1/4406
?/? c.-9-17_-9-13del r.(=) p.(=) g.205593032_205593036del Copied from the Exome Variant Server ELK4_000055 1/12518 1/8252 0/4266
?/? c.7A>T r.(?) p.(Ser3Cys) g.205593004T>A Copied from the Exome Variant Server ELK4_000054 1/13006 0/8600 1/4406
?/? c.13A>G r.(?) p.(Ile5Val) g.205592998T>C Copied from the Exome Variant Server ELK4_000053 1/13006 1/8600 0/4406
?/? c.39G>C r.(?) p.(Gln13His) g.205592972C>G Copied from the Exome Variant Server ELK4_000052 1/13006 1/8600 0/4406
?/? c.45G>A r.(=) p.(=) g.205592966C>T Copied from the Exome Variant Server ELK4_000050 1/13006 1/8600 0/4406
?/? c.47A>G r.(?) p.(Gln16Arg) g.205592964T>C Copied from the Exome Variant Server ELK4_000048 1/13006 1/8600 0/4406
?/? c.67A>G r.(?) p.(Met23Val) g.205592944T>C Copied from the Exome Variant Server ELK4_000046 1/13006 0/8600 1/4406
?/? c.86A>G r.(?) p.(Asn29Ser) g.205592925T>C Copied from the Exome Variant Server ELK4_000044 8/13006 0/8600 8/4406
?/? c.101A>G r.(?) p.(Lys34Arg) g.205592910T>C Copied from the Exome Variant Server ELK4_000042 2/13006 2/8600 0/4406
?/? c.142C>T r.(?) p.(Arg48Cys) g.205592869G>A Copied from the Exome Variant Server ELK4_000040 4/13006 2/8600 2/4406
?/? c.207+22T>C r.(=) p.(=) g.205592782A>G Copied from the Exome Variant Server ELK4_000038 1/13006 1/8600 0/4406
?/? c.207+44C>G r.(=) p.(=) g.205592760G>C Copied from the Exome Variant Server ELK4_000035 14/13006 0/8600 14/4406
?/? c.208-11_208-10insTTT r.(=) p.(=) g.205589976_205589977insAAA Copied from the Exome Variant Server ELK4_000032 40/12496 2/8244 38/4252
?/? c.208-10del r.(=) p.(=) g.205589976del Copied from the Exome Variant Server ELK4_000029 1372/12496 915/8244 457/4252
?/? c.208-10dup r.(=) p.(=) g.205589976dup Copied from the Exome Variant Server ELK4_000026 213/12496 186/8244 27/4252
?/? c.208-4A>G r.spl? p.? g.205589970T>C Copied from the Exome Variant Server ELK4_000024 37/13004 6/8598 31/4406
?/? c.225G>C r.(=) p.(=) g.205589949C>G Copied from the Exome Variant Server ELK4_000022 1/13006 1/8600 0/4406
?/? c.312C>T r.(=) p.(=) g.205589862G>A Copied from the Exome Variant Server ELK4_000020 1/13006 0/8600 1/4406
?/? c.330C>T r.(=) p.(=) g.205589844G>A Copied from the Exome Variant Server ELK4_000018 24/13006 0/8600 24/4406
?/? c.379A>G r.(?) p.(Lys127Glu) g.205589795T>C Copied from the Exome Variant Server ELK4_000016 1/13006 1/8600 0/4406
?/? c.386C>T r.(?) p.(Pro129Leu) g.205589788G>A Copied from the Exome Variant Server ELK4_000014 2/13006 0/8600 2/4406
?/? c.412C>T r.(?) p.(Arg138Cys) g.205589762G>A Copied from the Exome Variant Server ELK4_000012 1/13006 0/8600 1/4406
?/? c.476A>G r.(?) p.(Asn159Ser) g.205589698T>C Copied from the Exome Variant Server ELK4_000010 1/13006 1/8600 0/4406
?/? c.516C>T r.(=) p.(=) g.205589658G>A Copied from the Exome Variant Server ELK4_000008 2/13006 0/8600 2/4406
?/? c.599C>T r.(?) p.(Pro200Leu) g.205589575G>A Copied from the Exome Variant Server ELK4_000006 1/13006 1/8600 0/4406
?/? c.600G>A r.(=) p.(=) g.205589574C>T Copied from the Exome Variant Server ELK4_000051 1354/13006 780/8600 574/4406
?/? c.640A>G r.(?) p.(Ile214Val) g.205589534T>C Copied from the Exome Variant Server ELK4_000049 1/13006 0/8600 1/4406
?/? c.644C>G r.(?) p.(Ser215Cys) g.205589530G>C Copied from the Exome Variant Server ELK4_000047 1/13006 1/8600 0/4406
?/? c.650C>T r.(?) p.(Ser217Phe) g.205589524G>A Copied from the Exome Variant Server ELK4_000045 1/13006 1/8600 0/4406
?/? c.660A>G r.(=) p.(=) g.205589514T>C Copied from the Exome Variant Server ELK4_000043 2/13006 0/8600 2/4406
?/? c.704C>T r.(?) p.(Ser235Phe) g.205589470G>A Copied from the Exome Variant Server ELK4_000041 1/13006 0/8600 1/4406
?/? c.719C>T r.(?) p.(Thr240Ile) g.205589455G>A Copied from the Exome Variant Server ELK4_000039 3/13006 3/8600 0/4406
?/? c.778C>A r.(?) p.(Pro260Thr) g.205589396G>T Copied from the Exome Variant Server ELK4_000036 1/13006 0/8600 1/4406
?/? c.789A>G r.(=) p.(=) g.205589385T>C Copied from the Exome Variant Server ELK4_000033 13/13006 0/8600 13/4406
?/? c.800C>T r.(?) p.(Thr267Ile) g.205589374G>A Copied from the Exome Variant Server ELK4_000030 1/13006 1/8600 0/4406
?/? c.834C>T r.(=) p.(=) g.205589340G>A Copied from the Exome Variant Server ELK4_000027 1/13006 0/8600 1/4406
?/? c.866C>G r.(?) p.(Pro289Arg) g.205589308G>C Copied from the Exome Variant Server ELK4_000023 2/13006 1/8600 1/4406
?/? c.870G>A r.(?) p.(Met290Ile) g.205589304C>T Copied from the Exome Variant Server ELK4_000021 1/13006 1/8600 0/4406
?/? c.937G>A r.(?) p.(Val313Ile) g.205589237C>T Copied from the Exome Variant Server ELK4_000019 15/13006 0/8600 15/4406
?/? c.1068A>G r.(=) p.(=) g.205589106T>C Copied from the Exome Variant Server ELK4_000017 14/13006 0/8600 14/4406
?/? c.1099A>G r.(?) p.(Met367Val) g.205589075T>C Copied from the Exome Variant Server ELK4_000015 8/13006 8/8600 0/4406
?/? c.1136A>G r.(?) p.(Lys379Arg) g.205589038T>C Copied from the Exome Variant Server ELK4_000013 1/13006 0/8600 1/4406
?/? c.1158_1159del r.(?) p.(Gln387Serfs*7) g.205589015_205589016del Copied from the Exome Variant Server ELK4_000011 24/12520 0/8254 24/4266
?/? c.1204G>A r.(?) p.(Val402Met) g.205588970C>T Copied from the Exome Variant Server ELK4_000009 1/13006 0/8600 1/4406
?/? c.*49T>C r.(=) p.(=) g.205588907A>G Copied from the Exome Variant Server ELK4_000007 1/12936 1/8576 0/4360
?/? c.*50G>C r.(=) p.(=) g.205588906C>G Copied from the Exome Variant Server ELK4_000005 1/12930 1/8574 0/4356
?/? c.*748A>G r.(=) p.(=) g.205588208T>C Copied from the Exome Variant Server ELK4_000004 134/13006 1/8600 133/4406
?/? c.*814C>T r.(=) p.(=) g.205588142G>A Copied from the Exome Variant Server ELK4_000003 1/13006 1/8600 0/4406
?/? c.*851G>A r.(=) p.(=) g.205588105C>T Copied from the Exome Variant Server ELK4_000002 1/13006 1/8600 0/4406
?/? c.*886A>G r.(=) p.(=) g.205588070T>C Copied from the Exome Variant Server ELK4_000001 2/13006 2/8600 0/4406
?/? c.*3154G>T r.(=) p.(=) g.205585802C>A Copied from the Exome Variant Server ELK4_000037 1/13006 1/8600 0/4406
?/? c.*3162T>G r.(=) p.(=) g.205585794A>C Copied from the Exome Variant Server ELK4_000034 37/13006 0/8600 37/4406
?/? c.*3309C>T r.(=) p.(=) g.205585647G>A Copied from the Exome Variant Server ELK4_000031 1/13006 1/8600 0/4406
?/? c.*3310G>A r.(=) p.(=) g.205585646C>T Copied from the Exome Variant Server ELK4_000028 1/13006 0/8600 1/4406
?/? c.*3328C>T r.(=) p.(=) g.205585628G>A Copied from the Exome Variant Server ELK4_000025 1/13006 1/8600 0/4406
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