Full data view for gene NCOA7

Information The variants shown are described using the NM_001122842.2 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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.-64-12C>T r.(=) p.(=) g.126136425C>T Copied from the Exome Variant Server NCOA7_000001 232/4560 1/3176 231/1384 - - - - - - -
?/? c.-59C>T r.(=) p.(=) g.126136442C>T Copied from the Exome Variant Server NCOA7_000002 83/4564 7/3180 76/1384 - - - - - - -
?/? c.-42_-41del r.(=) p.(=) g.126136459_126136460del Copied from the Exome Variant Server NCOA7_000003 32/12516 24/8252 8/4264 - - - - - - -
?/? c.29G>A r.(?) p.(Arg10Gln) g.126136529G>A Copied from the Exome Variant Server NCOA7_000004 1/13004 1/8598 0/4406 - - - - - - -
?/? c.40T>C r.(?) p.(Tyr14His) g.126136540T>C Copied from the Exome Variant Server NCOA7_000005 1/13004 1/8598 0/4406 - - - - - - -
?/? c.50+37T>C r.(=) p.(=) g.126136587T>C Copied from the Exome Variant Server NCOA7_000006 2/13004 0/8598 2/4406 - - - - - - -
?/? c.51-21del r.(=) p.(=) g.126176145del Copied from the Exome Variant Server NCOA7_000007 13/12518 2/8254 11/4264 - - - - - - -
?/? c.64A>G r.(?) p.(Lys22Glu) g.126176179A>G Copied from the Exome Variant Server NCOA7_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.70G>A r.(?) p.(Ala24Thr) g.126176185G>A Copied from the Exome Variant Server NCOA7_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.121G>A r.(?) p.(Gly41Arg) g.126176236G>A Copied from the Exome Variant Server NCOA7_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.155C>A r.(?) p.(Pro52Gln) g.126176270C>A Copied from the Exome Variant Server NCOA7_000011 2/13006 2/8600 0/4406 - - - - - - -
?/? c.174T>A r.(=) p.(=) g.126176289T>A Copied from the Exome Variant Server NCOA7_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.186A>T r.(?) p.(Glu62Asp) g.126176301A>T Copied from the Exome Variant Server NCOA7_000013 25/13006 0/8600 25/4406 - - - - - - -
?/? c.235A>G r.(?) p.(Ile79Val) g.126176350A>G Copied from the Exome Variant Server NCOA7_000014 14/13006 14/8600 0/4406 - - - - - - -
?/? c.258A>G r.(=) p.(=) g.126176373A>G Copied from the Exome Variant Server NCOA7_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.271+50G>T r.(=) p.(=) g.126176436G>T Copied from the Exome Variant Server NCOA7_000016 1/12622 0/8474 1/4148 - - - - - - -
?/? c.305_307del r.(?) p.(Lys104del) g.126196068_126196070del Copied from the Exome Variant Server NCOA7_000017 1/12518 0/8254 1/4264 - - - - - - -
?/? c.313A>G r.(?) p.(Met105Val) g.126196076A>G Copied from the Exome Variant Server NCOA7_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.351+28T>C r.(=) p.(=) g.126196142T>C Copied from the Exome Variant Server NCOA7_000019 1182/13006 1074/8600 108/4406 - - - - - - -
?/? c.351+43A>T r.(=) p.(=) g.126196157A>T Copied from the Exome Variant Server NCOA7_000020 54/13006 0/8600 54/4406 - - - - - - -
?/? c.352-47_352-46insT r.(=) p.(=) g.126199362_126199363insT Copied from the Exome Variant Server NCOA7_000021 23/12504 13/8248 10/4256 - - - - - - -
?/? c.352-19A>G r.(=) p.(=) g.126199390A>G Copied from the Exome Variant Server NCOA7_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.352-11G>T r.(=) p.(=) g.126199398G>T Copied from the Exome Variant Server NCOA7_000023 55/13006 1/8600 54/4406 - - - - - - -
?/? c.352-10A>T r.(=) p.(=) g.126199399A>T Copied from the Exome Variant Server NCOA7_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.352G>T r.(?) p.(Ala118Ser) g.126199409G>T Copied from the Exome Variant Server NCOA7_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.363G>A r.(=) p.(=) g.126199420G>A Copied from the Exome Variant Server NCOA7_000026 58/13006 54/8600 4/4406 - - - - - - -
?/? c.460-31_460-28del r.(=) p.(=) g.126202205_126202208del Copied from the Exome Variant Server NCOA7_000027 1/12518 1/8254 0/4264 - - - - - - -
?/? c.460-25C>T r.(=) p.(=) g.126202211C>T Copied from the Exome Variant Server NCOA7_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.460-8A>G r.(=) p.(=) g.126202228A>G Copied from the Exome Variant Server NCOA7_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507A>G r.(=) p.(=) g.126202283A>G Copied from the Exome Variant Server NCOA7_000030 65/13006 0/8600 65/4406 - - - - - - -
?/? c.539C>T r.(?) p.(Pro180Leu) g.126202315C>T Copied from the Exome Variant Server NCOA7_000031 10/13006 10/8600 0/4406 - - - - - - -
?/? c.573+26A>T r.(=) p.(=) g.126202375A>T Copied from the Exome Variant Server NCOA7_000032 11/13006 0/8600 11/4406 - - - - - - -
?/? c.573+32A>G r.(=) p.(=) g.126202381A>G Copied from the Exome Variant Server NCOA7_000033 3/13006 3/8600 0/4406 - - - - - - -
?/? c.574-17del r.(=) p.(=) g.126203555del Copied from the Exome Variant Server NCOA7_000034 18/12518 13/8254 5/4264 - - - - - - -
?/? c.574-16T>A r.(=) p.(=) g.126203556T>A Copied from the Exome Variant Server NCOA7_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.598T>C r.(=) p.(=) g.126203596T>C Copied from the Exome Variant Server NCOA7_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.699+40A>G r.(=) p.(=) g.126203737A>G Copied from the Exome Variant Server NCOA7_000038 1/12970 0/8578 1/4392 - - - - - - -
?/? c.700-31A>C r.(=) p.(=) g.126206274A>C Copied from the Exome Variant Server NCOA7_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.700-22G>C r.(=) p.(=) g.126206283G>C Copied from the Exome Variant Server NCOA7_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.700-4G>C r.spl? p.? g.126206301G>C Copied from the Exome Variant Server NCOA7_000039 7/13006 5/8600 2/4406 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.126206418C>T Copied from the Exome Variant Server NCOA7_000041 18/13006 0/8600 18/4406 - - - - - - -
?/? c.837G>T r.(=) p.(=) g.126206442G>T Copied from the Exome Variant Server NCOA7_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.873T>C r.(=) p.(=) g.126206478T>C Copied from the Exome Variant Server NCOA7_000043 27/13006 0/8600 27/4406 - - - - - - -
?/? c.884+8_884+11del r.(=) p.(=) g.126206497_126206500del Copied from the Exome Variant Server NCOA7_000044 1/12518 0/8254 1/4264 - - - - - - -
?/? c.903C>T r.(=) p.(=) g.126210136C>T Copied from the Exome Variant Server NCOA7_000045 23/13006 0/8600 23/4406 - - - - - - -
?/? c.915A>C r.(?) p.(Glu305Asp) g.126210148A>C Copied from the Exome Variant Server NCOA7_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.952A>C r.(?) p.(Asn318His) g.126210185A>C Copied from the Exome Variant Server NCOA7_000047 95/13006 2/8600 93/4406 - - - - - - -
?/? c.965G>A r.(?) p.(Arg322Gln) g.126210198G>A Copied from the Exome Variant Server NCOA7_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.988A>G r.(?) p.(Met330Val) g.126210221A>G Copied from the Exome Variant Server NCOA7_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1128G>A r.(=) p.(=) g.126210361G>A Copied from the Exome Variant Server NCOA7_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.126210385C>T Copied from the Exome Variant Server NCOA7_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1157C>T r.(?) p.(Thr386Ile) g.126210390C>T Copied from the Exome Variant Server NCOA7_000055 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1162T>G r.(?) p.(Ser388Ala) g.126210395T>G Copied from the Exome Variant Server NCOA7_000057 6224/13006 4329/8600 1895/4406 - - - - - - -
?/? c.1285C>A r.(?) p.(Leu429Ile) g.126210518C>A Copied from the Exome Variant Server NCOA7_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1307G>A r.(?) p.(Arg436Gln) g.126210540G>A Copied from the Exome Variant Server NCOA7_000061 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1315G>A r.(?) p.(Ala439Thr) g.126210548G>A Copied from the Exome Variant Server NCOA7_000063 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1330A>C r.(?) p.(Asn444His) g.126210563A>C Copied from the Exome Variant Server NCOA7_000065 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1338T>C r.(=) p.(=) g.126210571T>C Copied from the Exome Variant Server NCOA7_000067 1/12994 0/8598 1/4396 - - - - - - -
?/? c.1341C>T r.(=) p.(=) g.126210574C>T Copied from the Exome Variant Server NCOA7_000069 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1342G>A r.(?) p.(Val448Met) g.126210575G>A Copied from the Exome Variant Server NCOA7_000071 1/12994 0/8594 1/4400 - - - - - - -
?/? c.1363G>A r.(?) p.(Ala455Thr) g.126210596G>A Copied from the Exome Variant Server NCOA7_000073 2/12998 2/8594 0/4404 - - - - - - -
?/? c.1409C>T r.(?) p.(Ala470Val) g.126210642C>T Copied from the Exome Variant Server NCOA7_000075 1/12996 1/8598 0/4398 - - - - - - -
?/? c.1410G>A r.(=) p.(=) g.126210643G>A Copied from the Exome Variant Server NCOA7_000077 1/12994 0/8596 1/4398 - - - - - - -
?/? c.1431G>T r.(?) p.(Glu477Asp) g.126210664G>T Copied from the Exome Variant Server NCOA7_000050 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1473G>A r.(=) p.(=) g.126210706G>A Copied from the Exome Variant Server NCOA7_000052 19/13004 0/8600 19/4404 - - - - - - -
?/? c.1494C>T r.(=) p.(=) g.126210727C>T Copied from the Exome Variant Server NCOA7_000054 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1504A>G r.(?) p.(Ile502Val) g.126210737A>G Copied from the Exome Variant Server NCOA7_000056 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1524A>C r.(?) p.(Lys508Asn) g.126210757A>C Copied from the Exome Variant Server NCOA7_000058 2/13002 1/8600 1/4402 - - - - - - -
?/? c.1564G>A r.(?) p.(Gly522Arg) g.126210797G>A Copied from the Exome Variant Server NCOA7_000060 53/12994 50/8590 3/4404 - - - - - - -
?/? c.1600T>A r.(?) p.(Leu534Ile) g.126210833T>A Copied from the Exome Variant Server NCOA7_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1613A>G r.(?) p.(Lys538Arg) g.126210846A>G Copied from the Exome Variant Server NCOA7_000064 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1703A>G r.(?) p.(Asp568Gly) g.126210936A>G Copied from the Exome Variant Server NCOA7_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1723G>A r.(?) p.(Gly575Arg) g.126210956G>A Copied from the Exome Variant Server NCOA7_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1737G>A r.(=) p.(=) g.126210970G>A Copied from the Exome Variant Server NCOA7_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1812C>G r.(?) p.(Asp604Glu) g.126211045C>G Copied from the Exome Variant Server NCOA7_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1873A>G r.(?) p.(Arg625Gly) g.126211106A>G Copied from the Exome Variant Server NCOA7_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1894+4A>C r.spl? p.? g.126211131A>C Copied from the Exome Variant Server NCOA7_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1895-43A>G r.(=) p.(=) g.126211745A>G Copied from the Exome Variant Server NCOA7_000078 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1895-38G>C r.(=) p.(=) g.126211750G>C Copied from the Exome Variant Server NCOA7_000079 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1895-23C>A r.(=) p.(=) g.126211765C>A Copied from the Exome Variant Server NCOA7_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1895-13G>A r.(=) p.(=) g.126211775G>A Copied from the Exome Variant Server NCOA7_000081 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1923C>G r.(?) p.(Ser641Arg) g.126211816C>G Copied from the Exome Variant Server NCOA7_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1928C>G r.(?) p.(Thr643Ser) g.126211821C>G Copied from the Exome Variant Server NCOA7_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2014G>A r.(?) p.(Gly672Ser) g.126211907G>A Copied from the Exome Variant Server NCOA7_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2057G>A r.(?) p.(Arg686Gln) g.126211950G>A Copied from the Exome Variant Server NCOA7_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2063+17A>G r.(=) p.(=) g.126211973A>G Copied from the Exome Variant Server NCOA7_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2063+51C>T r.(=) p.(=) g.126212007C>T Copied from the Exome Variant Server NCOA7_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2063+9254G>A r.(=) p.(=) g.126221210G>A Copied from the Exome Variant Server NCOA7_000088 2/5734 0/3982 2/1752 - - - - - - -
?/? c.2064-18_2064-13del r.(=) p.(=) g.126236461_126236466del Copied from the Exome Variant Server NCOA7_000089 71/12518 2/8254 69/4264 - - - - - - -
?/? c.2167A>G r.(?) p.(Met723Val) g.126236582A>G Copied from the Exome Variant Server NCOA7_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2190G>C r.(?) p.(Glu730Asp) g.126236605G>C Copied from the Exome Variant Server NCOA7_000091 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2211+3G>A r.spl? p.? g.126236629G>A Copied from the Exome Variant Server NCOA7_000092 12/13006 11/8600 1/4406 - - - - - - -
?/? c.2211+24C>T r.(=) p.(=) g.126236650C>T Copied from the Exome Variant Server NCOA7_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2211+25C>A r.(=) p.(=) g.126236651C>A Copied from the Exome Variant Server NCOA7_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2211+26G>A r.(=) p.(=) g.126236652G>A Copied from the Exome Variant Server NCOA7_000095 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2211+28C>T r.(=) p.(=) g.126236654C>T Copied from the Exome Variant Server NCOA7_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2211+29G>C r.(=) p.(=) g.126236655G>C Copied from the Exome Variant Server NCOA7_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2211+31A>T r.(=) p.(=) g.126236657A>T Copied from the Exome Variant Server NCOA7_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2211+36C>G r.(=) p.(=) g.126236662C>G Copied from the Exome Variant Server NCOA7_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2212-1674G>A r.(=) p.(=) g.126240415G>A Copied from the Exome Variant Server NCOA7_000100 1/5734 1/3982 0/1752 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »