All transcript variants in gene NKX2-8

Information The variants shown are described using the NM_014360.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-40C>G r.(=) p.(=) g.37051634G>C Copied from the Exome Variant Server NKX2-8_000036 3345/12910 3030/8544 315/4366
?/? c.-22del r.(=) p.(=) g.37051616del Copied from the Exome Variant Server NKX2-8_000035 6/12406 2/8182 4/4224
?/? c.-7C>T r.(=) p.(=) g.37051601G>A Copied from the Exome Variant Server NKX2-8_000034 1/12980 0/8586 1/4394
?/? c.-4G>C r.(=) p.(=) g.37051598C>G Copied from the Exome Variant Server NKX2-8_000033 5/12980 0/8584 5/4396
?/? c.10T>C r.(?) p.(Ser4Pro) g.37051585A>G Copied from the Exome Variant Server NKX2-8_000032 1/13000 1/8596 0/4404
?/? c.11C>T r.(?) p.(Ser4Phe) g.37051584G>A Copied from the Exome Variant Server NKX2-8_000031 11/13000 0/8596 11/4404
?/? c.69A>G r.(=) p.(=) g.37051526T>C Copied from the Exome Variant Server NKX2-8_000030 325/13000 2/8594 323/4406
?/? c.75G>T r.(=) p.(=) g.37051520C>A Copied from the Exome Variant Server NKX2-8_000029 1/12996 1/8594 0/4402
?/? c.76C>T r.(?) p.(Pro26Ser) g.37051519G>A Copied from the Exome Variant Server NKX2-8_000028 3/12994 0/8594 3/4400
?/? c.78G>C r.(=) p.(=) g.37051517C>G Copied from the Exome Variant Server NKX2-8_000027 3/12994 1/8594 2/4400
?/? c.94C>T r.(?) p.(Pro32Ser) g.37051501G>A Copied from the Exome Variant Server NKX2-8_000026 1/12994 1/8592 0/4402
?/? c.125C>T r.(?) p.(Ala42Val) g.37051470G>A Copied from the Exome Variant Server NKX2-8_000025 13/12978 0/8586 13/4392
?/? c.138G>C r.(=) p.(=) g.37051457C>G Copied from the Exome Variant Server NKX2-8_000024 2/12986 2/8590 0/4396
?/? c.154C>T r.(?) p.(Pro52Ser) g.37051441G>A Copied from the Exome Variant Server NKX2-8_000023 1/12994 1/8594 0/4400
?/? c.157+11G>A r.(=) p.(=) g.37051427C>T Copied from the Exome Variant Server NKX2-8_000022 3384/12996 3073/8594 311/4402
?/? c.157+35G>A r.(=) p.(=) g.37051403C>T Copied from the Exome Variant Server NKX2-8_000021 5/12996 5/8592 0/4404
?/? c.157+42G>A r.(=) p.(=) g.37051396C>T Copied from the Exome Variant Server NKX2-8_000020 2/12994 0/8590 2/4404
?/? c.157+50G>A r.(=) p.(=) g.37051388C>T Copied from the Exome Variant Server NKX2-8_000019 8/12986 0/8584 8/4402
?/? c.158-36C>T r.(=) p.(=) g.37050705G>A Copied from the Exome Variant Server NKX2-8_000018 55/11780 1/7900 54/3880
?/? c.158-26_158-25insA r.(=) p.(=) g.37050694_37050695insT Copied from the Exome Variant Server NKX2-8_000017 10/11332 1/7584 9/3748
?/? c.174C>T r.(=) p.(=) g.37050653G>A Copied from the Exome Variant Server NKX2-8_000016 1/12282 1/8260 0/4022
?/? c.185G>C r.(?) p.(Ser62Thr) g.37050642C>G Copied from the Exome Variant Server NKX2-8_000015 73/12252 67/8250 6/4002
?/? c.193G>C r.(?) p.(Asp65His) g.37050634C>G Copied from the Exome Variant Server NKX2-8_000014 1/12196 1/8226 0/3970
?/? c.250A>G r.(?) p.(Arg84Gly) g.37050577T>C Copied from the Exome Variant Server NKX2-8_000013 5/12654 1/8434 4/4220
?/? c.260G>T r.(?) p.(Arg87Leu) g.37050567C>A Copied from the Exome Variant Server NKX2-8_000012 1/12646 0/8430 1/4216
?/? c.280G>A r.(?) p.(Ala94Thr) g.37050547C>T Copied from the Exome Variant Server NKX2-8_000011 48/12872 0/8528 48/4344
?/? c.285G>A r.(=) p.(=) g.37050542C>T Copied from the Exome Variant Server NKX2-8_000010 1/12900 1/8544 0/4356
?/? c.319C>G r.(?) p.(Arg107Gly) g.37050508G>C Copied from the Exome Variant Server NKX2-8_000009 1/12964 0/8584 1/4380
?/? c.320G>T r.(?) p.(Arg107Leu) g.37050507C>A Copied from the Exome Variant Server NKX2-8_000008 1/12964 0/8584 1/4380
?/? c.327G>A r.(=) p.(=) g.37050500C>T Copied from the Exome Variant Server NKX2-8_000007 1/12954 1/8582 0/4372
?/? c.555_557del r.(?) p.(Gly187del) g.37050270_37050272del Copied from the Exome Variant Server NKX2-8_000006 22/2422 18/1834 4/588
?/? c.627G>A r.(=) p.(=) g.37050200C>T Copied from the Exome Variant Server NKX2-8_000005 1/12046 1/7992 0/4054
?/? c.717G>A r.(?) p.(Trp239*) g.37050110C>T Copied from the Exome Variant Server NKX2-8_000004 1/12454 0/8272 1/4182
?/? c.*23C>G r.(=) p.(=) g.37050084G>C Copied from the Exome Variant Server NKX2-8_000003 1/12212 1/8138 0/4074
?/? c.*40G>A r.(=) p.(=) g.37050067C>T Copied from the Exome Variant Server NKX2-8_000002 1/11904 1/7986 0/3918
?/? c.*47C>T r.(=) p.(=) g.37050060G>A Copied from the Exome Variant Server NKX2-8_000001 1/11840 1/7936 0/3904
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