Unique variants in gene EDA

Information The variants shown are described using the NM_001399.4 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.71G>T r.(?) p.(Gly24Val) g.68836223G>T Copied from the Exome Variant Server EDA_000001 1/10478 0/6668 1/3810
1 c.125T>G r.(?) p.(Leu42Arg) g.68836277T>G Copied from the Exome Variant Server EDA_000002 1/10563 1/6728 0/3835
1 c.179G>A r.(?) p.(Cys60Tyr) g.68836331G>A Copied from the Exome Variant Server EDA_000003 1/10563 0/6728 1/3835
1 c.206G>T r.(?) p.(Arg69Leu) g.68836358G>T Copied from the Exome Variant Server EDA_000004 42/10563 37/6728 5/3835
1 c.381C>T r.(=) p.(=) g.68836533C>T Copied from the Exome Variant Server EDA_000005 64/10561 0/6728 64/3833
1 c.390G>T r.(=) p.(=) g.68836542G>T Copied from the Exome Variant Server EDA_000006 2/10560 2/6727 0/3833
1 c.396+4239T>G r.(=) p.(=) g.68840787T>G Copied from the Exome Variant Server EDA_000007 1/10563 0/6728 1/3835
1 c.396+4257C>T r.(=) p.(=) g.68840805C>T Copied from the Exome Variant Server EDA_000008 1/10563 1/6728 0/3835
1 c.435A>G r.(=) p.(=) g.69176915A>G Copied from the Exome Variant Server EDA_000009 2/10563 2/6728 0/3835
1 c.445G>C r.(?) p.(Glu149Gln) g.69176925G>C Copied from the Exome Variant Server EDA_000010 1/10563 1/6728 0/3835
1 c.458G>A r.(?) p.(Arg153His) g.69176938G>A Copied from the Exome Variant Server EDA_000011 13/10563 12/6728 1/3835
1 c.464G>A r.(?) p.(Arg155His) g.69176944G>A Copied from the Exome Variant Server EDA_000012 1/10563 1/6728 0/3835
1 c.469A>G r.(?) p.(Asn157Asp) g.69176949A>G Copied from the Exome Variant Server EDA_000013 1/10563 1/6728 0/3835
1 c.502+64A>G r.(=) p.(=) g.69177046A>G Copied from the Exome Variant Server EDA_000014 1/10562 1/6728 0/3834
1 c.502+1471G>C r.(=) p.(=) g.69178453G>C Copied from the Exome Variant Server EDA_000015 9/3600 0/2391 9/1209
1 c.502+1517A>G r.(=) p.(=) g.69178499A>G Copied from the Exome Variant Server EDA_000016 1/3600 1/2391 0/1209
1 c.502+1527_502+1531del r.(=) p.(=) g.69178509_69178513del Copied from the Exome Variant Server EDA_000017 5/5270 0/3346 5/1924
1 c.502+1761A>G r.(=) p.(=) g.69178743A>G Copied from the Exome Variant Server EDA_000018 85/3600 81/2391 4/1209
1 c.502+1837G>T r.(=) p.(=) g.69178819G>T Copied from the Exome Variant Server EDA_000019 1/3600 1/2391 0/1209
1 c.502+1881G>C r.(=) p.(=) g.69178863G>C Copied from the Exome Variant Server EDA_000020 3321/3600 2327/2391 994/1209
1 c.502+1966C>G r.(=) p.(=) g.69178948C>G Copied from the Exome Variant Server EDA_000021 2/3600 0/2391 2/1209
1 c.502+1976A>G r.(=) p.(=) g.69178958A>G Copied from the Exome Variant Server EDA_000022 1/3600 0/2391 1/1209
1 c.502+2666_502+2667insT r.(=) p.(=) g.69179648_69179649insT Copied from the Exome Variant Server EDA_000023 4092/5279 2615/3310 1477/1969
1 c.502+2726T>C r.(=) p.(=) g.69179708T>C Copied from the Exome Variant Server EDA_000024 6/3600 6/2391 0/1209
1 c.502+3106G>T r.(=) p.(=) g.69180088G>T Copied from the Exome Variant Server EDA_000025 2/3600 1/2391 1/1209
1 c.502+3255T>C r.(=) p.(=) g.69180237T>C Copied from the Exome Variant Server EDA_000026 1/3600 0/2391 1/1209
1 c.502+3292G>A r.(=) p.(=) g.69180274G>A Copied from the Exome Variant Server EDA_000027 891/3600 750/2391 141/1209
1 c.502+3527del r.(=) p.(=) g.69180509del Copied from the Exome Variant Server EDA_000029 107/4524 74/2908 33/1616
1 c.502+3527dup r.(=) p.(=) g.69180509dup Copied from the Exome Variant Server EDA_000028 50/4524 37/2908 13/1616
1 c.502+3596A>G r.(=) p.(=) g.69180578A>G Copied from the Exome Variant Server EDA_000030 1441/3595 1010/2386 431/1209
1 c.502+3895_502+3896insG r.(=) p.(=) g.69180877_69180878insG Copied from the Exome Variant Server EDA_000031 1106/4576 849/2917 257/1659
1 c.502+3976del r.(=) p.(=) g.69180958del Copied from the Exome Variant Server EDA_000032 10/4478 9/2908 1/1570
1 c.503-77del r.(=) p.(=) g.69242991del Copied from the Exome Variant Server EDA_000033 12/9941 6/6321 6/3620
1 c.503-69_503-66del r.(=) p.(=) g.69242999_69243002del Copied from the Exome Variant Server EDA_000034 17/10009 11/6374 6/3635
1 c.503-23T>A r.(=) p.(=) g.69243045T>A Copied from the Exome Variant Server EDA_000035 2/10529 2/6707 0/3822
1 c.503-22A>G r.(=) p.(=) g.69243046A>G Copied from the Exome Variant Server EDA_000036 1/10529 1/6707 0/3822
1 c.503-14T>C r.(=) p.(=) g.69243054T>C Copied from the Exome Variant Server EDA_000037 1/10532 1/6709 0/3823
1 c.526+20A>C r.(=) p.(=) g.69243111A>C Copied from the Exome Variant Server EDA_000038 5/10533 0/6712 5/3821
1 c.526+25G>T r.(=) p.(=) g.69243116G>T Copied from the Exome Variant Server EDA_000039 4/10528 4/6708 0/3820
1 c.526+27T>A r.(=) p.(=) g.69243118T>A Copied from the Exome Variant Server EDA_000040 1105/10531 870/6708 235/3823
1 c.526+57_526+58insA r.(=) p.(=) g.69243148_69243149insA Copied from the Exome Variant Server EDA_000041 5/10088 3/6408 2/3680
1 c.527-34del r.(=) p.(=) g.69247673del Copied from the Exome Variant Server EDA_000043 419/8989 311/5680 108/3309
1 c.527-34dup r.(=) p.(=) g.69247673dup Copied from the Exome Variant Server EDA_000042 1166/8989 126/5680 1040/3309
1 c.706+11_706+12del r.(=) p.(=) g.69247897_69247898del Copied from the Exome Variant Server EDA_000044 4921/10201 2724/6481 2197/3720
1 c.706+25C>G r.(=) p.(=) g.69247911C>G Copied from the Exome Variant Server EDA_000045 8/10552 7/6720 1/3832
1 c.707-65G>A r.(=) p.(=) g.69249289G>A Copied from the Exome Variant Server EDA_000046 5/3600 0/2391 5/1209
1 c.707-34T>G r.(=) p.(=) g.69249320T>G Copied from the Exome Variant Server EDA_000047 5/10563 5/6728 0/3835
1 c.707-9A>G r.(=) p.(=) g.69249345A>G Copied from the Exome Variant Server EDA_000048 2/10563 0/6728 2/3835
1 c.741+47G>C r.(=) p.(=) g.69249435G>C Copied from the Exome Variant Server EDA_000049 409/10563 377/6728 32/3835
1 c.742-41T>G r.(=) p.(=) g.69250278T>G Copied from the Exome Variant Server EDA_000050 1/10561 1/6726 0/3835
1 c.742-11C>T r.(=) p.(=) g.69250308C>T Copied from the Exome Variant Server EDA_000051 3252/10562 2511/6727 741/3835
1 c.794-46G>A r.(=) p.(=) g.69253202G>A Copied from the Exome Variant Server EDA_000052 5/10563 0/6728 5/3835
1 c.794-16_794-14del r.(=) p.(=) g.69253232_69253234del Copied from the Exome Variant Server EDA_000053 26/10205 11/6484 15/3721
1 c.833C>G r.(?) p.(Thr278Ser) g.69253287C>G Copied from the Exome Variant Server EDA_000054 1/10563 0/6728 1/3835
1 c.924+8C>T r.(=) p.(=) g.69253386C>T Copied from the Exome Variant Server EDA_000055 1/10563 0/6728 1/3835
1 c.925-50A>G r.(=) p.(=) g.69255158A>G Copied from the Exome Variant Server EDA_000056 1/10560 0/6726 1/3834
1 c.1001G>A r.(?) p.(Arg334His) g.69255284G>A Copied from the Exome Variant Server EDA_000057 3/10563 1/6728 2/3835
1 c.1044C>T r.(=) p.(=) g.69255327C>T Copied from the Exome Variant Server EDA_000058 1/10563 1/6728 0/3835
1 c.1050C>T r.(=) p.(=) g.69255333C>T Copied from the Exome Variant Server EDA_000059 2/10563 2/6728 0/3835
1 c.1070G>A r.(?) p.(Arg357Gln) g.69255353G>A Copied from the Exome Variant Server EDA_000060 2/10563 2/6728 0/3835
1 c.1080C>T r.(=) p.(=) g.69255363C>T Copied from the Exome Variant Server EDA_000061 3/10563 3/6728 0/3835
1 c.1099G>A r.(?) p.(Ala367Thr) g.69255382G>A Copied from the Exome Variant Server EDA_000062 3/10563 3/6728 0/3835
1 c.1104C>T r.(=) p.(=) g.69255387C>T Copied from the Exome Variant Server EDA_000063 1/10563 0/6728 1/3835
1 c.*10A>G r.(=) p.(=) g.69255469A>G Copied from the Exome Variant Server EDA_000064 1/10563 1/6728 0/3835
1 c.*25G>A r.(=) p.(=) g.69255484G>A Copied from the Exome Variant Server EDA_000065 1/10562 1/6727 0/3835
1 c.*34C>T r.(=) p.(=) g.69255493C>T Copied from the Exome Variant Server EDA_000066 521/10559 1/6724 520/3835
1 c.*35C>G r.(=) p.(=) g.69255494C>G Copied from the Exome Variant Server EDA_000067 4/10559 4/6724 0/3835
1 c.*51A>G r.(=) p.(=) g.69255510A>G Copied from the Exome Variant Server EDA_000068 1/10542 0/6712 1/3830
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