All transcript variants in gene KIR2DL4

Information The variants shown are described using the NM_001080770.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.40+39T>C r.(=) p.(=) g.55315185T>C Copied from the Exome Variant Server KIR2DL4_000001 7/10886 0/7470 7/3416
?/? c.41-39C>G r.(=) p.(=) g.55315307C>G Copied from the Exome Variant Server KIR2DL4_000002 7546/12358 4542/8208 3004/4150
?/? c.41-15G>C r.(=) p.(=) g.55315331G>C Copied from the Exome Variant Server KIR2DL4_000003 2/12440 2/8240 0/4200
?/? c.42G>A r.(=) p.(=) g.55315347G>A Copied from the Exome Variant Server KIR2DL4_000004 28/12370 0/8200 28/4170
?/? c.52G>A r.(?) p.(Asp18Asn) g.55315357G>A Copied from the Exome Variant Server KIR2DL4_000005 1/12334 1/8190 0/4144
?/? c.67G>A r.(?) p.(Ala23Thr) g.55315372G>A Copied from the Exome Variant Server KIR2DL4_000006 4/12220 0/8146 4/4074
?/? c.72C>T r.(=) p.(=) g.55315377C>T Copied from the Exome Variant Server KIR2DL4_000007 2/12146 0/8120 2/4026
?/? c.73G>A r.(?) p.(Val25Met) g.55315378G>A Copied from the Exome Variant Server KIR2DL4_000008 3/12124 2/8122 1/4002
?/? c.76+42A>G r.(=) p.(=) g.55315423A>G Copied from the Exome Variant Server KIR2DL4_000009 1/11508 0/7864 1/3644
?/? c.106T>C r.(?) p.(Trp36Arg) g.55316277T>C Copied from the Exome Variant Server KIR2DL4_000010 2/11814 0/7572 2/4242
?/? c.116C>T r.(?) p.(Ala39Val) g.55316287C>T Copied from the Exome Variant Server KIR2DL4_000011 1/11858 0/7608 1/4250
?/? c.133G>A r.(?) p.(Gly45Arg) g.55316304G>A Copied from the Exome Variant Server KIR2DL4_000012 37/11920 1/7660 36/4260
?/? c.148C>T r.(?) p.(Arg50Trp) g.55316319C>T Copied from the Exome Variant Server KIR2DL4_000013 2/11956 2/7692 0/4264
?/? c.149G>A r.(?) p.(Arg50Gln) g.55316320G>A Copied from the Exome Variant Server KIR2DL4_000014 2/11960 2/7696 0/4264
?/? c.161G>A r.(?) p.(Arg54His) g.55316332G>A Copied from the Exome Variant Server KIR2DL4_000015 6/11974 6/7714 0/4260
?/? c.163C>G r.(?) p.(Arg55Gly) g.55316334C>G Copied from the Exome Variant Server KIR2DL4_000016 6/11972 0/7712 6/4260
?/? c.164G>A r.(?) p.(Arg55His) g.55316335G>A Copied from the Exome Variant Server KIR2DL4_000017 1/11966 1/7706 0/4260
?/? c.176T>C r.(?) p.(Ile59Thr) g.55316347T>C Copied from the Exome Variant Server KIR2DL4_000018 1/11942 0/7690 1/4252
?/? c.208G>A r.(?) p.(Val70Ile) g.55316379G>A Copied from the Exome Variant Server KIR2DL4_000019 1/11802 1/7578 0/4224
?/? c.395C>T r.(?) p.(Pro132Leu) g.55317439C>T Copied from the Exome Variant Server KIR2DL4_000020 305/8834 178/5922 127/2912
?/? c.480G>A r.(=) p.(=) g.55317524G>A Copied from the Exome Variant Server KIR2DL4_000021 888/6492 671/4396 217/2096
?/? c.656-49_656-48insAA r.(=) p.(=) g.55320239_55320240insAA Copied from the Exome Variant Server KIR2DL4_000022 228/4164 128/3140 100/1024
?/? c.707-597T>G r.(=) p.(=) g.55324548T>G Copied from the Exome Variant Server KIR2DL4_000023 1/11602 1/7976 0/3626
?/? c.707-561C>T r.(=) p.(=) g.55324584C>T Copied from the Exome Variant Server KIR2DL4_000024 3/12018 0/8168 3/3850
?/? c.707-549G>A r.(=) p.(=) g.55324596G>A Copied from the Exome Variant Server KIR2DL4_000025 1/12106 1/8198 0/3908
?/? c.707-510_707-508del r.(=) p.(=) g.55324635_55324637del Copied from the Exome Variant Server KIR2DL4_000026 86/11750 47/7950 39/3800
?/? c.707-495C>G r.(=) p.(=) g.55324650C>G Copied from the Exome Variant Server KIR2DL4_000027 1/12484 1/8388 0/4096
?/? c.707-470del r.(=) p.(=) g.55324675del Copied from the Exome Variant Server KIR2DL4_000028 102/12024 51/8056 51/3968
?/? c.707-16C>T r.(=) p.(=) g.55325129C>T Copied from the Exome Variant Server KIR2DL4_000029 2/12590 2/8282 0/4308
?/? c.707-11G>T r.(=) p.(=) g.55325134G>T Copied from the Exome Variant Server KIR2DL4_000030 4/12588 4/8280 0/4308
?/? c.708T>G r.(?) p.(Asp236Glu) g.55325146T>G Copied from the Exome Variant Server KIR2DL4_000031 15/12578 15/8276 0/4302
?/? c.709G>A r.(?) p.(Ala237Thr) g.55325147G>A Copied from the Exome Variant Server KIR2DL4_000032 32/12578 0/8276 32/4302
?/? c.756G>A r.(=) p.(=) g.55325194G>A Copied from the Exome Variant Server KIR2DL4_000033 12/12468 12/8234 0/4234
?/? c.759G>A r.(=) p.(=) g.55325197G>A Copied from the Exome Variant Server KIR2DL4_000034 8/12430 0/8212 8/4218
?/? c.759+5G>T r.spl? p.? g.55325202G>T Copied from the Exome Variant Server KIR2DL4_000035 1/12408 1/8200 0/4208
?/? c.759+19G>T r.(=) p.(=) g.55325216G>T Copied from the Exome Variant Server KIR2DL4_000036 1/12296 1/8164 0/4132
?/? c.760-12del r.(=) p.(=) g.55325285del Copied from the Exome Variant Server KIR2DL4_000037 37/10186 23/7088 14/3098
?/? c.913G>C r.(?) p.(Ala305Pro) g.55325450G>C Copied from the Exome Variant Server KIR2DL4_000038 67/8284 55/6188 12/2096
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