Full data view for gene BACH1

Information The variants shown are described using the NM_206866.1 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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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     
?/? c.-29G>A r.(=) p.(=) g.30693573G>A Copied from the Exome Variant Server BACH1_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-21C>T r.(=) p.(=) g.30693581C>T Copied from the Exome Variant Server BACH1_000002 104/13006 2/8600 102/4406 - - - - - - -
?/? c.-6T>C r.(=) p.(=) g.30693596T>C Copied from the Exome Variant Server BACH1_000003 6/13006 0/8600 6/4406 - - - - - - -
?/? c.11G>A r.(?) p.(Ser4Asn) g.30693612G>A Copied from the Exome Variant Server BACH1_000004 11/13006 10/8600 1/4406 - - - - - - -
?/? c.21G>A r.(=) p.(=) g.30693622G>A Copied from the Exome Variant Server BACH1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.56A>G r.(?) p.(Asn19Ser) g.30693657A>G Copied from the Exome Variant Server BACH1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.30693679C>T Copied from the Exome Variant Server BACH1_000007 2/13006 0/8600 2/4406 - - - - - - -
?/? c.94G>C r.(?) p.(Val32Leu) g.30693695G>C Copied from the Exome Variant Server BACH1_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.112A>G r.(?) p.(Ile38Val) g.30693713A>G Copied from the Exome Variant Server BACH1_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.131G>A r.(?) p.(Arg44Gln) g.30693732G>A Copied from the Exome Variant Server BACH1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.146G>T r.(?) p.(Arg49Leu) g.30693747G>T Copied from the Exome Variant Server BACH1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.151G>A r.(?) p.(Val51Met) g.30693752G>A Copied from the Exome Variant Server BACH1_000012 2/13006 1/8600 1/4406 - - - - - - -
?/? c.158C>T r.(?) p.(Ala53Val) g.30693759C>T Copied from the Exome Variant Server BACH1_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.159G>A r.(=) p.(=) g.30693760G>A Copied from the Exome Variant Server BACH1_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.170G>C r.(?) p.(Ser57Thr) g.30693771G>C Copied from the Exome Variant Server BACH1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.182C>T r.(?) p.(Ser61Leu) g.30693783C>T Copied from the Exome Variant Server BACH1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.204T>A r.(?) p.(Asp68Glu) g.30693805T>A Copied from the Exome Variant Server BACH1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211C>G r.(?) p.(Leu71Val) g.30693812C>G Copied from the Exome Variant Server BACH1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234+16T>A r.(=) p.(=) g.30693851T>A Copied from the Exome Variant Server BACH1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.235-34A>G r.(=) p.(=) g.30698346A>G Copied from the Exome Variant Server BACH1_000020 2/12986 0/8592 2/4394 - - - - - - -
?/? c.235-23G>A r.(=) p.(=) g.30698357G>A Copied from the Exome Variant Server BACH1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.306T>C r.(=) p.(=) g.30698451T>C Copied from the Exome Variant Server BACH1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.341G>A r.(?) p.(Ser114Asn) g.30698486G>A Copied from the Exome Variant Server BACH1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.343G>T r.(?) p.(Val115Leu) g.30698488G>T Copied from the Exome Variant Server BACH1_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.362C>A r.(?) p.(Ser121Tyr) g.30698507C>A Copied from the Exome Variant Server BACH1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.406G>C r.(?) p.(Asp136His) g.30698551G>C Copied from the Exome Variant Server BACH1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.426del r.(?) p.(Lys144Asnfs*22) g.30698571del Copied from the Exome Variant Server BACH1_000027 9/12516 8/8254 1/4262 - - - - - - -
?/? c.434G>T r.(?) p.(Cys145Phe) g.30698579G>T Copied from the Exome Variant Server BACH1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441A>T r.(=) p.(=) g.30698586A>T Copied from the Exome Variant Server BACH1_000029 28/13006 0/8600 28/4406 - - - - - - -
?/? c.452A>G r.(?) p.(Gln151Arg) g.30698597A>G Copied from the Exome Variant Server BACH1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474A>G r.(=) p.(=) g.30698619A>G Copied from the Exome Variant Server BACH1_000031 1/13004 1/8600 0/4404 - - - - - - -
?/? c.587C>T r.(?) p.(Ser196Leu) g.30698732C>T Copied from the Exome Variant Server BACH1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.601G>T r.(?) p.(Asp201Tyr) g.30698746G>T Copied from the Exome Variant Server BACH1_000033 3/13006 2/8600 1/4406 - - - - - - -
?/? c.603C>G r.(?) p.(Asp201Glu) g.30698748C>G Copied from the Exome Variant Server BACH1_000034 38/13006 32/8600 6/4406 - - - - - - -
?/? c.618A>T r.(=) p.(=) g.30698763A>T Copied from the Exome Variant Server BACH1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.628A>G r.(?) p.(Met210Val) g.30698773A>G Copied from the Exome Variant Server BACH1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.632G>C r.(?) p.(Cys211Ser) g.30698777G>C Copied from the Exome Variant Server BACH1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.636A>T r.(?) p.(Leu212Phe) g.30698781A>T Copied from the Exome Variant Server BACH1_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.725G>A r.(?) p.(Gly242Glu) g.30698870G>A Copied from the Exome Variant Server BACH1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.729A>T r.(?) p.(Glu243Asp) g.30698874A>T Copied from the Exome Variant Server BACH1_000041 96/13006 0/8600 96/4406 - - - - - - -
?/? c.738C>T r.(=) p.(=) g.30698883C>T Copied from the Exome Variant Server BACH1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.802C>T r.(?) p.(Pro268Ser) g.30698947C>T Copied from the Exome Variant Server BACH1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.808T>G r.(?) p.(Cys270Gly) g.30698953T>G Copied from the Exome Variant Server BACH1_000047 24/13006 21/8600 3/4406 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.30698985C>T Copied from the Exome Variant Server BACH1_000049 4/13006 0/8600 4/4406 - - - - - - -
?/? c.853G>A r.(?) p.(Ala285Thr) g.30698998G>A Copied from the Exome Variant Server BACH1_000051 9/13004 8/8598 1/4406 - - - - - - -
?/? c.872C>T r.(?) p.(Thr291Met) g.30699017C>T Copied from the Exome Variant Server BACH1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.30699018G>A Copied from the Exome Variant Server BACH1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.901A>G r.(?) p.(Thr301Ala) g.30699046A>G Copied from the Exome Variant Server BACH1_000057 3/13006 0/8600 3/4406 - - - - - - -
?/? c.929C>T r.(?) p.(Pro310Leu) g.30699074C>T Copied from the Exome Variant Server BACH1_000060 1/13004 1/8598 0/4406 - - - - - - -
?/? c.940T>C r.(?) p.(Ser314Pro) g.30699085T>C Copied from the Exome Variant Server BACH1_000062 338/13004 3/8598 335/4406 - - - - - - -
?/? c.992A>G r.(?) p.(Gln331Arg) g.30699137A>G Copied from the Exome Variant Server BACH1_000040 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1096G>T r.(?) p.(Asp366Tyr) g.30699241G>T Copied from the Exome Variant Server BACH1_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1162A>G r.(?) p.(Ser388Gly) g.30699307A>G Copied from the Exome Variant Server BACH1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1172G>A r.(?) p.(Arg391Gln) g.30699317G>A Copied from the Exome Variant Server BACH1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1212C>T r.(=) p.(=) g.30699357C>T Copied from the Exome Variant Server BACH1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1223C>T r.(?) p.(Thr408Met) g.30699368C>T Copied from the Exome Variant Server BACH1_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1281G>C r.(?) p.(Gln427His) g.30699426G>C Copied from the Exome Variant Server BACH1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1318A>G r.(?) p.(Ile440Val) g.30699463A>G Copied from the Exome Variant Server BACH1_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1368A>G r.(=) p.(=) g.30699513A>G Copied from the Exome Variant Server BACH1_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1392A>G r.(?) p.(Ile464Met) g.30699537A>G Copied from the Exome Variant Server BACH1_000058 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1403G>A r.(?) p.(Ser468Asn) g.30699548G>A Copied from the Exome Variant Server BACH1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1412G>C r.(?) p.(Gly471Ala) g.30699557G>C Copied from the Exome Variant Server BACH1_000061 161/13006 141/8600 20/4406 - - - - - - -
?/? c.1415G>A r.(?) p.(Cys472Tyr) g.30699560G>A Copied from the Exome Variant Server BACH1_000063 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1440C>T r.(=) p.(=) g.30699585C>T Copied from the Exome Variant Server BACH1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1492A>T r.(?) p.(Ile498Phe) g.30699637A>T Copied from the Exome Variant Server BACH1_000065 12/13006 10/8600 2/4406 - - - - - - -
?/? c.1512T>G r.(=) p.(=) g.30699657T>G Copied from the Exome Variant Server BACH1_000066 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1534A>T r.(?) p.(Ser512Cys) g.30699679A>T Copied from the Exome Variant Server BACH1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1542C>G r.(=) p.(=) g.30699687C>G Copied from the Exome Variant Server BACH1_000068 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1552A>G r.(?) p.(Arg518Gly) g.30699697A>G Copied from the Exome Variant Server BACH1_000069 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1643A>G r.(?) p.(His548Arg) g.30701881A>G Copied from the Exome Variant Server BACH1_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1724_1725insC r.(?) p.(Lys576Glnfs*5) g.30701962_30701963insC Copied from the Exome Variant Server BACH1_000071 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1777-50G>C r.(=) p.(=) g.30714670G>C Copied from the Exome Variant Server BACH1_000072 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1777-26T>C r.(=) p.(=) g.30714694T>C Copied from the Exome Variant Server BACH1_000073 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1777-20_1777-19del r.(=) p.(=) g.30714700_30714701del Copied from the Exome Variant Server BACH1_000074 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1816A>G r.(?) p.(Ile606Val) g.30714759A>G Copied from the Exome Variant Server BACH1_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1830G>A r.(=) p.(=) g.30714773G>A Copied from the Exome Variant Server BACH1_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1833T>C r.(=) p.(=) g.30714776T>C Copied from the Exome Variant Server BACH1_000077 6410/13006 3593/8600 2817/4406 - - - - - - -
?/? c.1914C>T r.(=) p.(=) g.30714857C>T Copied from the Exome Variant Server BACH1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1967A>T r.(?) p.(Asp656Val) g.30714910A>T Copied from the Exome Variant Server BACH1_000079 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1999C>T r.(?) p.(Pro667Ser) g.30714942C>T Copied from the Exome Variant Server BACH1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2035G>C r.(?) p.(Val679Leu) g.30714978G>C Copied from the Exome Variant Server BACH1_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2052C>T r.(=) p.(=) g.30714995C>T Copied from the Exome Variant Server BACH1_000082 7/13006 0/8600 7/4406 - - - - - - -
?/? c.2076C>T r.(=) p.(=) g.30715019C>T Copied from the Exome Variant Server BACH1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2081G>A r.(?) p.(Arg694Gln) g.30715024G>A Copied from the Exome Variant Server BACH1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2087A>G r.(?) p.(Gln696Arg) g.30715030A>G Copied from the Exome Variant Server BACH1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2114C>A r.(?) p.(Thr705Asn) g.30715057C>A Copied from the Exome Variant Server BACH1_000086 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2115C>T r.(=) p.(=) g.30715058C>T Copied from the Exome Variant Server BACH1_000087 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2135C>T r.(?) p.(Ala712Val) g.30715078C>T Copied from the Exome Variant Server BACH1_000088 7/13002 0/8598 7/4404 - - - - - - -
?/? c.2144G>A r.(?) p.(Cys715Tyr) g.30715087G>A Copied from the Exome Variant Server BACH1_000089 1/13002 1/8596 0/4406 - - - - - - -
?/? c.2146C>T r.(?) p.(Arg716Cys) g.30715089C>T Copied from the Exome Variant Server BACH1_000090 2/13002 0/8596 2/4406 - - - - - - -
?/? c.*51A>C r.(=) p.(=) g.30715205A>C Copied from the Exome Variant Server BACH1_000091 1/12666 1/8356 0/4310 - - - - - - -
Legend