All transcript variants in gene NFIX

Information The variants shown are described using the NM_002501.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.28-35C>T r.(=) p.(=) g.13135800C>T Copied from the Exome Variant Server NFIX_000001 1/12880 0/8518 1/4362
?/? c.72C>T r.(=) p.(=) g.13135879C>T Copied from the Exome Variant Server NFIX_000002 1/13006 1/8600 0/4406
?/? c.117G>A r.(=) p.(=) g.13135924G>A Copied from the Exome Variant Server NFIX_000003 4/13006 4/8600 0/4406
?/? c.141G>A r.(=) p.(=) g.13135948G>A Copied from the Exome Variant Server NFIX_000004 1/13006 0/8600 1/4406
?/? c.183G>A r.(=) p.(=) g.13135990G>A Copied from the Exome Variant Server NFIX_000005 3/13006 3/8600 0/4406
?/? c.264C>T r.(=) p.(=) g.13136071C>T Copied from the Exome Variant Server NFIX_000006 1/13006 0/8600 1/4406
?/? c.309C>T r.(=) p.(=) g.13136116C>T Copied from the Exome Variant Server NFIX_000007 1/13006 1/8600 0/4406
?/? c.310G>T r.(?) p.(Val104Leu) g.13136117G>T Copied from the Exome Variant Server NFIX_000008 1/13006 1/8600 0/4406
?/? c.360G>A r.(=) p.(=) g.13136167G>A Copied from the Exome Variant Server NFIX_000009 1/13004 1/8600 0/4404
?/? c.556C>A r.(?) p.(Pro186Thr) g.13136363C>A Copied from the Exome Variant Server NFIX_000010 1/12470 1/8414 0/4056
?/? c.559+44T>C r.(=) p.(=) g.13136410T>C Copied from the Exome Variant Server NFIX_000011 1/12104 1/8266 0/3838
?/? c.600G>A r.(=) p.(=) g.13183901G>A Copied from the Exome Variant Server NFIX_000012 3/12464 1/8352 2/4112
?/? c.622+4A>G r.spl? p.? g.13183927A>G Copied from the Exome Variant Server NFIX_000013 2/12484 0/8358 2/4126
?/? c.622+20C>T r.(=) p.(=) g.13183943C>T Copied from the Exome Variant Server NFIX_000014 1/12470 1/8364 0/4106
?/? c.622+33T>A r.(=) p.(=) g.13183956T>A Copied from the Exome Variant Server NFIX_000015 1/12468 0/8360 1/4108
?/? c.622+48C>T r.(=) p.(=) g.13183971C>T Copied from the Exome Variant Server NFIX_000016 1/12446 1/8346 0/4100
?/? c.623-63G>C r.(=) p.(=) g.13184173G>C Copied from the Exome Variant Server NFIX_000017 1/4566 1/3182 0/1384
?/? c.623-57A>G r.(=) p.(=) g.13184179A>G Copied from the Exome Variant Server NFIX_000018 2/4566 0/3182 2/1384
?/? c.623-25C>T r.(=) p.(=) g.13184211C>T Copied from the Exome Variant Server NFIX_000019 1/12152 1/8278 0/3874
?/? c.623-9C>T r.(=) p.(=) g.13184227C>T Copied from the Exome Variant Server NFIX_000020 1/12116 0/8282 1/3834
?/? c.697+49A>C r.(=) p.(=) g.13184359A>C Copied from the Exome Variant Server NFIX_000021 12/12308 0/8334 12/3974
?/? c.697+51G>A r.(=) p.(=) g.13184361G>A Copied from the Exome Variant Server NFIX_000022 1/6590 0/4360 1/2230
?/? c.698-36C>A r.(=) p.(=) g.13184684C>A Copied from the Exome Variant Server NFIX_000023 3/12104 3/8252 0/3852
?/? c.698-12C>T r.(=) p.(=) g.13184708C>T Copied from the Exome Variant Server NFIX_000024 3/12166 3/8266 0/3900
?/? c.818+28C>T r.(=) p.(=) g.13184868C>T Copied from the Exome Variant Server NFIX_000025 1/12444 0/8360 1/4084
?/? c.819-38C>T r.(=) p.(=) g.13186311C>T Copied from the Exome Variant Server NFIX_000026 37/12544 1/8404 36/4140
?/? c.843C>T r.(=) p.(=) g.13186373C>T Copied from the Exome Variant Server NFIX_000027 2/12560 2/8424 0/4136
?/? c.899G>A r.(?) p.(Arg300His) g.13186429G>A Copied from the Exome Variant Server NFIX_000028 1/12510 0/8404 1/4106
?/? c.933G>A r.(=) p.(=) g.13186463G>A Copied from the Exome Variant Server NFIX_000029 3/12472 3/8386 0/4086
?/? c.942C>T r.(=) p.(=) g.13186472C>T Copied from the Exome Variant Server NFIX_000030 1/12468 1/8384 0/4084
?/? c.955+38G>A r.(=) p.(=) g.13186523G>A Copied from the Exome Variant Server NFIX_000031 1/12374 0/8356 1/4018
?/? c.955+39C>T r.(=) p.(=) g.13186524C>T Copied from the Exome Variant Server NFIX_000032 650/12362 586/8352 64/4010
?/? c.1023C>T r.(=) p.(=) g.13189494C>T Copied from the Exome Variant Server NFIX_000033 1/12308 0/8308 1/4000
?/? c.1078+19C>T r.(=) p.(=) g.13189568C>T Copied from the Exome Variant Server NFIX_000034 1/11864 1/8138 0/3726
?/? c.1078+19_1078+20insG r.(=) p.(=) g.13189568_13189569insG Copied from the Exome Variant Server NFIX_000035 71/11010 44/7582 27/3428
?/? c.1078+20G>A r.(=) p.(=) g.13189569G>A Copied from the Exome Variant Server NFIX_000036 4/11786 0/8100 4/3686
?/? c.1078+22A>G r.(=) p.(=) g.13189571A>G Copied from the Exome Variant Server NFIX_000037 24/11766 16/8090 8/3676
?/? c.1079-19C>T r.(=) p.(=) g.13192475C>T Copied from the Exome Variant Server NFIX_000038 1/12668 1/8434 0/4234
?/? c.1140G>A r.(=) p.(=) g.13192555G>A Copied from the Exome Variant Server NFIX_000039 29/12768 27/8478 2/4290
?/? c.1227G>A r.(=) p.(=) g.13192642G>A Copied from the Exome Variant Server NFIX_000040 1/12422 1/8354 0/4068
?/? c.1236G>A r.(=) p.(=) g.13192651G>A Copied from the Exome Variant Server NFIX_000041 1/12346 0/8324 1/4022
?/? c.1248C>G r.(=) p.(=) g.13192663C>G Copied from the Exome Variant Server NFIX_000042 3/12276 2/8292 1/3984
?/? c.1254+41C>G r.(=) p.(=) g.13192710C>G Copied from the Exome Variant Server NFIX_000043 1/12096 1/8244 0/3852
?/? c.1255-23C>T r.(=) p.(=) g.13201090C>T Copied from the Exome Variant Server NFIX_000044 1/12350 1/8322 0/4028
?/? c.1260G>A r.(=) p.(=) g.13201118G>A Copied from the Exome Variant Server NFIX_000045 1/12322 0/8312 1/4010
?/? c.1314G>A r.(=) p.(=) g.13201172G>A Copied from the Exome Variant Server NFIX_000046 1/12270 1/8316 0/3954
?/? c.*20+18C>T r.(=) p.(=) g.13201222C>T Copied from the Exome Variant Server NFIX_000047 1/12196 0/8302 1/3894
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