All transcript variants in gene BARHL2

Information The variants shown are described using the NM_020063.1 transcript reference sequence.

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-42G>A r.(=) p.(=) g.91182794C>T Copied from the Exome Variant Server BARHL2_000050 1/12968 0/8572 1/4396
?/? c.-41G>A r.(=) p.(=) g.91182793C>T Copied from the Exome Variant Server BARHL2_000049 13/12970 11/8572 2/4398
?/? c.-38G>T r.(=) p.(=) g.91182790C>A Copied from the Exome Variant Server BARHL2_000048 1/12980 0/8584 1/4396
?/? c.13G>C r.(?) p.(Gly5Arg) g.91182740C>G Copied from the Exome Variant Server BARHL2_000047 1/13004 1/8600 0/4404
?/? c.40G>T r.(?) p.(Asp14Tyr) g.91182713C>A Copied from the Exome Variant Server BARHL2_000046 1/13006 1/8600 0/4406
?/? c.44C>G r.(?) p.(Thr15Arg) g.91182709G>C Copied from the Exome Variant Server BARHL2_000045 1/13006 0/8600 1/4406
?/? c.60C>T r.(=) p.(=) g.91182693G>A Copied from the Exome Variant Server BARHL2_000044 1/13006 1/8600 0/4406
?/? c.125A>G r.(?) p.(Asp42Gly) g.91182628T>C Copied from the Exome Variant Server BARHL2_000043 1/13006 1/8600 0/4406
?/? c.162G>T r.(?) p.(Glu54Asp) g.91182591C>A Copied from the Exome Variant Server BARHL2_000042 2/13006 2/8600 0/4406
?/? c.171C>T r.(=) p.(=) g.91182582G>A Copied from the Exome Variant Server BARHL2_000041 2/13006 2/8600 0/4406
?/? c.172G>T r.(?) p.(Val58Leu) g.91182581C>A Copied from the Exome Variant Server BARHL2_000040 1/13006 1/8600 0/4406
?/? c.204C>A r.(=) p.(=) g.91182549G>T Copied from the Exome Variant Server BARHL2_000039 4/13006 0/8600 4/4406
?/? c.222G>T r.(?) p.(Glu74Asp) g.91182531C>A Copied from the Exome Variant Server BARHL2_000038 1/13006 1/8600 0/4406
?/? c.225G>T r.(=) p.(=) g.91182528C>A Copied from the Exome Variant Server BARHL2_000037 1/13006 0/8600 1/4406
?/? c.280_281insAGC r.(?) p.(Gln93dup) g.91182472_91182473insGCT Copied from the Exome Variant Server BARHL2_000036 25/11204 4/7452 21/3752
?/? c.289_291del r.(?) p.(Pro97del) g.91182462_91182464del Copied from the Exome Variant Server BARHL2_000035 86/9650 63/6558 23/3092
?/? c.369_371del r.(?) p.(Pro125del) g.91182382_91182384del Copied from the Exome Variant Server BARHL2_000034 217/8774 155/5944 62/2830
?/? c.441C>T r.(=) p.(=) g.91182312G>A Copied from the Exome Variant Server BARHL2_000033 4/13000 3/8596 1/4404
?/? c.495C>G r.(=) p.(=) g.91182258G>C Copied from the Exome Variant Server BARHL2_000032 51/13006 0/8600 51/4406
?/? c.506A>G r.(?) p.(His169Arg) g.91182247T>C Copied from the Exome Variant Server BARHL2_000031 1/13006 0/8600 1/4406
?/? c.539A>G r.(?) p.(Glu180Gly) g.91182214T>C Copied from the Exome Variant Server BARHL2_000030 13/13006 3/8600 10/4406
?/? c.565G>A r.(?) p.(Glu189Lys) g.91182188C>T Copied from the Exome Variant Server BARHL2_000029 1/13006 0/8600 1/4406
?/? c.568G>A r.(?) p.(Asp190Asn) g.91182185C>T Copied from the Exome Variant Server BARHL2_000028 1/13006 0/8600 1/4406
?/? c.592C>T r.(?) p.(Arg198Trp) g.91182161G>A Copied from the Exome Variant Server BARHL2_000027 1/13006 1/8600 0/4406
?/? c.625+26G>A r.(=) p.(=) g.91182102C>T Copied from the Exome Variant Server BARHL2_000026 77/13006 0/8600 77/4406
?/? c.626-22C>G r.(=) p.(=) g.91180335G>C Copied from the Exome Variant Server BARHL2_000025 102/13006 91/8600 11/4406
?/? c.626-15G>T r.(=) p.(=) g.91180328C>A Copied from the Exome Variant Server BARHL2_000024 1/13006 1/8600 0/4406
?/? c.636_638del r.(?) p.(Glu213del) g.91180301_91180303del Copied from the Exome Variant Server BARHL2_000023 6/12520 5/8254 1/4266
?/? c.720C>T r.(=) p.(=) g.91180219G>A Copied from the Exome Variant Server BARHL2_000022 9/13006 3/8600 6/4406
?/? c.723C>T r.(=) p.(=) g.91180216G>A Copied from the Exome Variant Server BARHL2_000021 5/13006 0/8600 5/4406
?/? c.759G>A r.(=) p.(=) g.91180180C>T Copied from the Exome Variant Server BARHL2_000020 1/13006 0/8600 1/4406
?/? c.768C>T r.(=) p.(=) g.91180171G>A Copied from the Exome Variant Server BARHL2_000019 1/13006 1/8600 0/4406
?/? c.774C>T r.(=) p.(=) g.91180165G>A Copied from the Exome Variant Server BARHL2_000018 1/13006 1/8600 0/4406
?/? c.822C>G r.(=) p.(=) g.91180117G>C Copied from the Exome Variant Server BARHL2_000017 1/13006 1/8600 0/4406
?/? c.851+27_851+28insA r.(=) p.(=) g.91180060_91180061insT Copied from the Exome Variant Server BARHL2_000016 1/12520 1/8254 0/4266
?/? c.851+39A>G r.(=) p.(=) g.91180049T>C Copied from the Exome Variant Server BARHL2_000015 2/13006 0/8600 2/4406
?/? c.852-12G>A r.(=) p.(=) g.91178193C>T Copied from the Exome Variant Server BARHL2_000014 1/12976 1/8580 0/4396
?/? c.876G>A r.(=) p.(=) g.91178157C>T Copied from the Exome Variant Server BARHL2_000013 1/12982 1/8582 0/4400
?/? c.897C>T r.(=) p.(=) g.91178136G>A Copied from the Exome Variant Server BARHL2_000012 4/13000 0/8598 4/4402
?/? c.939G>A r.(=) p.(=) g.91178094C>T Copied from the Exome Variant Server BARHL2_000011 2/13004 1/8600 1/4404
?/? c.957A>G r.(=) p.(=) g.91178076T>C Copied from the Exome Variant Server BARHL2_000010 1/13000 1/8596 0/4404
?/? c.995C>T r.(?) p.(Ala332Val) g.91178038G>A Copied from the Exome Variant Server BARHL2_000009 2/12516 2/8302 0/4214
?/? c.998_999insC r.(?) p.(Ala334Cysfs*41) g.91178034_91178035insG Copied from the Exome Variant Server BARHL2_000008 1104/11994 665/7924 439/4070
?/? c.1000G>A r.(?) p.(Ala334Thr) g.91178033C>T Copied from the Exome Variant Server BARHL2_000007 1/12946 0/8552 1/4394
?/? c.1036C>T r.(?) p.(Pro346Ser) g.91177997G>A Copied from the Exome Variant Server BARHL2_000006 1/13002 0/8596 1/4406
?/? c.1075C>T r.(?) p.(Arg359Cys) g.91177958G>A Copied from the Exome Variant Server BARHL2_000005 1/12992 1/8596 0/4396
?/? c.1076G>A r.(?) p.(Arg359His) g.91177957C>T Copied from the Exome Variant Server BARHL2_000004 1/12990 1/8594 0/4396
?/? c.1104G>A r.(=) p.(=) g.91177929C>T Copied from the Exome Variant Server BARHL2_000003 1/12954 1/8572 0/4382
?/? c.*5A>T r.(=) p.(=) g.91177864T>A Copied from the Exome Variant Server BARHL2_000002 104/12770 0/8432 104/4338
?/? c.*37T>C r.(=) p.(=) g.91177832A>G Copied from the Exome Variant Server BARHL2_000001 1/12494 0/8276 1/4218
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