Full data view for gene RFFL

Information The variants shown are described using the NR_037713.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? n.226-43G>A r.(=) p.(=) g.33353623C>T Copied from the Exome Variant Server RFFL_000050 12/13004 9/8598 3/4406 - - - - - - -
?/? n.226-19C>T r.(=) p.(=) g.33353599G>A Copied from the Exome Variant Server RFFL_000049 356/13006 1/8600 355/4406 - - - - - - -
?/? n.292C>T r.(?) - g.33353514G>A Copied from the Exome Variant Server RFFL_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? n.338C>T r.(?) - g.33353468G>A Copied from the Exome Variant Server RFFL_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? n.358G>A r.(?) - g.33353448C>T Copied from the Exome Variant Server RFFL_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? n.413+20C>T r.(=) p.(=) g.33353373G>A Copied from the Exome Variant Server RFFL_000045 49/13006 0/8600 49/4406 - - - - - - -
?/? n.413+34G>A r.(=) p.(=) g.33353359C>T Copied from the Exome Variant Server RFFL_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? n.440T>A r.(?) - g.33348774A>T Copied from the Exome Variant Server RFFL_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? n.508G>A r.(?) - g.33348706C>T Copied from the Exome Variant Server RFFL_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? n.576C>A r.(?) - g.33348638G>T Copied from the Exome Variant Server RFFL_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? n.604G>A r.(?) - g.33348610C>T Copied from the Exome Variant Server RFFL_000040 3/13006 3/8600 0/4406 - - - - - - -
?/? n.671T>C r.(?) - g.33348543A>G Copied from the Exome Variant Server RFFL_000039 25/13006 8/8600 17/4406 - - - - - - -
?/? n.673G>A r.(?) - g.33348541C>T Copied from the Exome Variant Server RFFL_000038 125/13006 1/8600 124/4406 - - - - - - -
?/? n.799C>A r.(?) - g.33348415G>T Copied from the Exome Variant Server RFFL_000037 9/13006 9/8600 0/4406 - - - - - - -
?/? n.802C>T r.(?) - g.33348412G>A Copied from the Exome Variant Server RFFL_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? n.824+20C>A r.(=) p.(=) g.33348370G>T Copied from the Exome Variant Server RFFL_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? n.824+22C>T r.(=) p.(=) g.33348368G>A Copied from the Exome Variant Server RFFL_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? n.825-59del r.(=) p.(=) g.33344684del Copied from the Exome Variant Server RFFL_000033 338/12508 4/8246 334/4262 - - - - - - -
?/? n.825-50C>T r.(=) p.(=) g.33344675G>A Copied from the Exome Variant Server RFFL_000032 104/13002 0/8596 104/4406 - - - - - - -
?/? n.825-48G>C r.(=) p.(=) g.33344673C>G Copied from the Exome Variant Server RFFL_000031 1/13002 0/8596 1/4406 - - - - - - -
?/? n.825-46T>C r.(=) p.(=) g.33344671A>G Copied from the Exome Variant Server RFFL_000030 1/13002 1/8596 0/4406 - - - - - - -
?/? n.829A>G r.(?) - g.33344621T>C Copied from the Exome Variant Server RFFL_000029 2/13006 2/8600 0/4406 - - - - - - -
?/? n.835A>G r.(?) - g.33344615T>C Copied from the Exome Variant Server RFFL_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? n.874G>A r.(?) - g.33344576C>T Copied from the Exome Variant Server RFFL_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? n.902G>A r.(?) - g.33344548C>T Copied from the Exome Variant Server RFFL_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? n.908+24_908+25del r.(=) p.(=) g.33344517_33344518del Copied from the Exome Variant Server RFFL_000025 18/12518 8/8254 10/4264 - - - - - - -
?/? n.908+36C>T r.(=) p.(=) g.33344506G>A Copied from the Exome Variant Server RFFL_000024 3/13006 2/8600 1/4406 - - - - - - -
?/? n.908+41T>C r.(=) p.(=) g.33344501A>G Copied from the Exome Variant Server RFFL_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? n.908+42T>C r.(=) p.(=) g.33344500A>G Copied from the Exome Variant Server RFFL_000022 4/13006 0/8600 4/4406 - - - - - - -
?/? n.912A>G r.(?) - g.33343596T>C Copied from the Exome Variant Server RFFL_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? n.935C>T r.(?) - g.33343573G>A Copied from the Exome Variant Server RFFL_000020 27/13006 0/8600 27/4406 - - - - - - -
?/? n.987G>A r.(?) - g.33343521C>T Copied from the Exome Variant Server RFFL_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1023C>T r.(?) - g.33343485G>A Copied from the Exome Variant Server RFFL_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1024G>A r.(?) - g.33343484C>T Copied from the Exome Variant Server RFFL_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1083C>T r.(?) - g.33343425G>A Copied from the Exome Variant Server RFFL_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1120-91_1120-90insT r.(=) p.(=) g.33341872_33341873insA Copied from the Exome Variant Server RFFL_000015 25/12518 1/8254 24/4264 - - - - - - -
?/? n.1120-52A>G r.(=) p.(=) g.33341834T>C Copied from the Exome Variant Server RFFL_000014 4813/7272 2599/4618 2214/2654 - - - - - - -
?/? n.1120-40A>G r.(=) p.(=) g.33341822T>C Copied from the Exome Variant Server RFFL_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1120-32C>T r.(=) p.(=) g.33341814G>A Copied from the Exome Variant Server RFFL_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1120-31C>G r.(=) p.(=) g.33341813G>C Copied from the Exome Variant Server RFFL_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1130C>T r.(?) - g.33341772G>A Copied from the Exome Variant Server RFFL_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1141A>G r.(?) - g.33341761T>C Copied from the Exome Variant Server RFFL_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? n.1144-27T>G r.(=) p.(=) g.33339195A>C Copied from the Exome Variant Server RFFL_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1144-16_1144-15del r.(=) p.(=) g.33339183_33339184del Copied from the Exome Variant Server RFFL_000007 1/12518 0/8254 1/4264 - - - - - - -
?/? n.1163C>T r.(?) - g.33339149G>A Copied from the Exome Variant Server RFFL_000006 48/13006 0/8600 48/4406 - - - - - - -
?/? n.1238A>G r.(?) - g.33339074T>C Copied from the Exome Variant Server RFFL_000005 2/13006 0/8600 2/4406 - - - - - - -
?/? n.1309A>G r.(?) - g.33339003T>C Copied from the Exome Variant Server RFFL_000004 3/13006 0/8600 3/4406 - - - - - - -
?/? n.1319G>A r.(?) - g.33338993C>T Copied from the Exome Variant Server RFFL_000003 2/13006 0/8600 2/4406 - - - - - - -
?/? n.1337G>A r.(?) - g.33338975C>T Copied from the Exome Variant Server RFFL_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1348T>G r.(?) - g.33338964A>C Copied from the Exome Variant Server RFFL_000001 1/13006 0/8600 1/4406 - - - - - - -
Legend