Unique variants in gene OFD1

Information The variants shown are described using the NM_003611.2 transcript reference sequence.

148 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-19C>G r.(=) p.(=) g.13753172C>G Copied from the Exome Variant Server OFD1_000001 4/10539 0/6716 4/3823
1 c.-4C>G r.(=) p.(=) g.13753187C>G Copied from the Exome Variant Server OFD1_000002 1/10550 1/6722 0/3828
1 c.12+16C>T r.(=) p.(=) g.13753218C>T Copied from the Exome Variant Server OFD1_000003 1/10560 1/6727 0/3833
1 c.12+28G>C r.(=) p.(=) g.13753230G>C Copied from the Exome Variant Server OFD1_000004 16/10560 0/6727 16/3833
1 c.12+79T>G r.(=) p.(=) g.13753281T>G Copied from the Exome Variant Server OFD1_000005 80/3600 1/2391 79/1209
1 c.13-51G>A r.(=) p.(=) g.13753316G>A Copied from the Exome Variant Server OFD1_000006 1/10563 0/6728 1/3835
1 c.16A>G r.(?) p.(Asn6Asp) g.13753370A>G Copied from the Exome Variant Server OFD1_000007 1/10563 1/6728 0/3835
1 c.54A>G r.(=) p.(=) g.13753408A>G Copied from the Exome Variant Server OFD1_000008 4/10563 3/6728 1/3835
1 c.94A>G r.(?) p.(Ile32Val) g.13753448A>G Copied from the Exome Variant Server OFD1_000009 1/10563 1/6728 0/3835
1 c.111+22G>T r.(=) p.(=) g.13753487G>T Copied from the Exome Variant Server OFD1_000010 1/10563 1/6728 0/3835
1 c.111+45C>G r.(=) p.(=) g.13753510C>G Copied from the Exome Variant Server OFD1_000011 1/10562 1/6728 0/3834
1 c.216C>A r.(=) p.(=) g.13754701C>A Copied from the Exome Variant Server OFD1_000012 2/10563 0/6728 2/3835
1 c.264A>G r.(=) p.(=) g.13754749A>G Copied from the Exome Variant Server OFD1_000013 4/10563 0/6728 4/3835
1 c.270A>C r.(=) p.(=) g.13754755A>C Copied from the Exome Variant Server OFD1_000014 2/10563 2/6728 0/3835
1 c.276T>C r.(=) p.(=) g.13754761T>C Copied from the Exome Variant Server OFD1_000015 2/10563 0/6728 2/3835
1 c.312+12C>G r.(=) p.(=) g.13754809C>G Copied from the Exome Variant Server OFD1_000016 1/10563 0/6728 1/3835
1 c.355C>A r.(?) p.(Pro119Thr) g.13757007C>A Copied from the Exome Variant Server OFD1_000017 2/10554 1/6719 1/3835
1 c.381+27A>G r.(=) p.(=) g.13757060A>G Copied from the Exome Variant Server OFD1_000018 7/10548 7/6715 0/3833
1 c.412+9C>T r.(=) p.(=) g.13757160C>T Copied from the Exome Variant Server OFD1_000019 1/10538 1/6709 0/3829
1 c.451C>T r.(?) p.(His151Tyr) g.13762572C>T Copied from the Exome Variant Server OFD1_000020 3/10560 3/6725 0/3835
1 c.476T>C r.(?) p.(Met159Thr) g.13762597T>C Copied from the Exome Variant Server OFD1_000021 3/10562 0/6727 3/3835
1 c.517+8T>C r.(=) p.(=) g.13762646T>C Copied from the Exome Variant Server OFD1_000022 2/10560 2/6725 0/3835
1 c.517+20T>C r.(=) p.(=) g.13762658T>C Copied from the Exome Variant Server OFD1_000023 16/10558 0/6723 16/3835
1 c.518-51C>T r.(=) p.(=) g.13764387C>T Copied from the Exome Variant Server OFD1_000024 2/10522 0/6717 2/3805
1 c.518-32A>G r.(=) p.(=) g.13764406A>G Copied from the Exome Variant Server OFD1_000025 2/10556 0/6723 2/3833
1 c.518-27C>A r.(=) p.(=) g.13764411C>A Copied from the Exome Variant Server OFD1_000026 1/10556 1/6725 0/3831
1 c.550G>A r.(?) p.(Ala184Thr) g.13764470G>A Copied from the Exome Variant Server OFD1_000027 1/10563 0/6728 1/3835
1 c.567G>A r.(=) p.(=) g.13764487G>A Copied from the Exome Variant Server OFD1_000028 2/10563 2/6728 0/3835
1 c.569G>A r.(?) p.(Arg190His) g.13764489G>A Copied from the Exome Variant Server OFD1_000029 1/10563 0/6728 1/3835
1 c.654+27_654+28del r.(=) p.(=) g.13764601_13764602del Copied from the Exome Variant Server OFD1_000030 5/10172 5/6459 0/3713
1 c.654+29G>T r.(=) p.(=) g.13764603G>T Copied from the Exome Variant Server OFD1_000031 1/10532 0/6704 1/3828
1 c.654+41T>C r.(=) p.(=) g.13764615T>C Copied from the Exome Variant Server OFD1_000032 3/10499 0/6680 3/3819
1 c.655-32G>C r.(=) p.(=) g.13764867G>C Copied from the Exome Variant Server OFD1_000033 16/10337 1/6635 15/3702
1 c.702del r.(?) p.(Lys237Serfs*6) g.13764946del Copied from the Exome Variant Server OFD1_000035 119/10200 88/6479 31/3721
1 c.714T>C r.(=) p.(=) g.13764958T>C Copied from the Exome Variant Server OFD1_000036 68/10562 0/6727 68/3835
1 c.780C>T r.(=) p.(=) g.13765024C>T Copied from the Exome Variant Server OFD1_000038 1/10562 0/6727 1/3835
1 c.781G>A r.(?) p.(Val261Ile) g.13765025G>A Copied from the Exome Variant Server OFD1_000034 2/10562 1/6727 1/3835
1 c.788G>A r.(?) p.(Arg263Gln) g.13765032G>A Copied from the Exome Variant Server OFD1_000037 2/10562 2/6727 0/3835
1 c.802C>T r.(?) p.(Leu268Phe) g.13765046C>T Copied from the Exome Variant Server OFD1_000039 1/10560 1/6727 0/3833
1 c.828+51G>A r.(=) p.(=) g.13765123G>A Copied from the Exome Variant Server OFD1_000040 257/10352 61/6569 196/3783
1 c.829-35G>T r.(=) p.(=) g.13767511G>T Copied from the Exome Variant Server OFD1_000041 2/10556 2/6722 0/3834
1 c.829-6A>G r.(=) p.(=) g.13767540A>G Copied from the Exome Variant Server OFD1_000042 1/10558 0/6723 1/3835
1 c.851C>G r.(?) p.(Ala284Gly) g.13767568C>G Copied from the Exome Variant Server OFD1_000043 1/10559 1/6724 0/3835
1 c.853C>G r.(?) p.(Gln285Glu) g.13767570C>G Copied from the Exome Variant Server OFD1_000044 1/10560 0/6725 1/3835
1 c.878T>C r.(?) p.(Met293Thr) g.13767595T>C Copied from the Exome Variant Server OFD1_000045 1/10558 0/6723 1/3835
1 c.919G>A r.(?) p.(Val307Ile) g.13767636G>A Copied from the Exome Variant Server OFD1_000046 5/10562 0/6727 5/3835
1 c.935+36G>A r.(=) p.(=) g.13767688G>A Copied from the Exome Variant Server OFD1_000047 1/10561 0/6726 1/3835
1 c.935+39_935+41del r.(=) p.(=) g.13767691_13767693del Copied from the Exome Variant Server OFD1_000048 1/10198 1/6479 0/3719
1 c.936-30A>G r.(=) p.(=) g.13769338A>G Copied from the Exome Variant Server OFD1_000049 2/10513 0/6708 2/3805
1 c.936-2A>G r.spl? p.? g.13769366A>G Copied from the Exome Variant Server OFD1_000050 1/10554 1/6723 0/3831
1 c.1020G>A r.(=) p.(=) g.13769452G>A Copied from the Exome Variant Server OFD1_000051 74/10563 0/6728 74/3835
1 c.1056-56_1056-55del r.(=) p.(=) g.13771431_13771432del Copied from the Exome Variant Server OFD1_000052 10/10205 7/6484 3/3721
1 c.1056-44_1056-43insA r.(=) p.(=) g.13771443_13771444insA Copied from the Exome Variant Server OFD1_000053 4/10205 0/6484 4/3721
1 c.1102C>G r.(?) p.(Leu368Val) g.13771533C>G Copied from the Exome Variant Server OFD1_000054 1/10563 1/6728 0/3835
1 c.1106T>C r.(?) p.(Ile369Thr) g.13771537T>C Copied from the Exome Variant Server OFD1_000055 1/10563 0/6728 1/3835
1 c.1111G>A r.(?) p.(Asp371Asn) g.13771542G>A Copied from the Exome Variant Server OFD1_000056 1/10563 1/6728 0/3835
1 c.1129+8T>A r.(=) p.(=) g.13771568T>A Copied from the Exome Variant Server OFD1_000057 2/10563 0/6728 2/3835
1 c.1129+16A>G r.(=) p.(=) g.13771576A>G Copied from the Exome Variant Server OFD1_000058 2472/10563 1500/6728 972/3835
1 c.1129+50T>A r.(=) p.(=) g.13771610T>A Copied from the Exome Variant Server OFD1_000059 1/10560 1/6725 0/3835
1 c.1197T>C r.(=) p.(=) g.13773337T>C Copied from the Exome Variant Server OFD1_000060 1/10562 1/6727 0/3835
1 c.1221+29A>G r.(=) p.(=) g.13773390A>G Copied from the Exome Variant Server OFD1_000061 1/10560 1/6727 0/3833
1 c.1221+46T>C r.(=) p.(=) g.13773407T>C Copied from the Exome Variant Server OFD1_000062 1/10557 0/6724 1/3833
1 c.1221+47A>G r.(=) p.(=) g.13773408A>G Copied from the Exome Variant Server OFD1_000063 11/10557 0/6724 11/3833
1 c.1253T>C r.(?) p.(Leu418Ser) g.13774728T>C Copied from the Exome Variant Server OFD1_000064 1/10562 1/6727 0/3835
1 c.1264A>G r.(?) p.(Lys422Glu) g.13774739A>G Copied from the Exome Variant Server OFD1_000065 82/10562 0/6727 82/3835
1 c.1276A>G r.(?) p.(Met426Val) g.13774751A>G Copied from the Exome Variant Server OFD1_000066 1/10562 1/6727 0/3835
1 c.1294A>G r.(?) p.(Lys432Glu) g.13774769A>G Copied from the Exome Variant Server OFD1_000067 6/10562 6/6727 0/3835
1 c.1347A>G r.(=) p.(=) g.13774822A>G Copied from the Exome Variant Server OFD1_000068 2/10562 2/6727 0/3835
1 c.1399C>T r.(?) p.(Arg467Cys) g.13774874C>T Copied from the Exome Variant Server OFD1_000069 1/10562 0/6727 1/3835
1 c.1400G>A r.(?) p.(Arg467His) g.13774875G>A Copied from the Exome Variant Server OFD1_000070 1/10562 1/6727 0/3835
1 c.1411+11_1411+13del r.(=) p.(=) g.13774897_13774899del Copied from the Exome Variant Server OFD1_000071 1/10203 0/6482 1/3721
1 c.1411+44C>A r.(=) p.(=) g.13774930C>A Copied from the Exome Variant Server OFD1_000072 1/10559 1/6727 0/3832
1 c.1460G>A r.(?) p.(Arg487Gln) g.13775827G>A Copied from the Exome Variant Server OFD1_000073 2/10563 1/6728 1/3835
1 c.1536A>G r.(=) p.(=) g.13775903A>G Copied from the Exome Variant Server OFD1_000074 2/10563 2/6728 0/3835
1 c.1542+21G>A r.(=) p.(=) g.13775930G>A Copied from the Exome Variant Server OFD1_000076 201/10563 0/6728 201/3835
1 c.1543-50G>T r.(=) p.(=) g.13776406G>T Copied from the Exome Variant Server OFD1_000078 1/10558 0/6723 1/3835
1 c.1543-19C>G r.(=) p.(=) g.13776437C>G Copied from the Exome Variant Server OFD1_000080 5/10561 5/6726 0/3835
1 c.1545T>C r.(=) p.(=) g.13776458T>C Copied from the Exome Variant Server OFD1_000082 1/10563 0/6728 1/3835
1 c.1559A>G r.(?) p.(Gln520Arg) g.13776472A>G Copied from the Exome Variant Server OFD1_000084 1/10563 0/6728 1/3835
1 c.1620C>T r.(=) p.(=) g.13776533C>T Copied from the Exome Variant Server OFD1_000086 1/10563 0/6728 1/3835
1 c.1622A>T r.(?) p.(Asp541Val) g.13776535A>T Copied from the Exome Variant Server OFD1_000088 2/10563 0/6728 2/3835
1 c.1634A>G r.(?) p.(Gln545Arg) g.13776547A>G Copied from the Exome Variant Server OFD1_000090 1/10563 1/6728 0/3835
1 c.1654+8A>G r.(=) p.(=) g.13776575A>G Copied from the Exome Variant Server OFD1_000092 15/10563 0/6728 15/3835
1 c.1654+9C>T r.(=) p.(=) g.13776576C>T Copied from the Exome Variant Server OFD1_000094 7/10561 7/6728 0/3833
1 c.1654+14T>A r.(=) p.(=) g.13776581T>A Copied from the Exome Variant Server OFD1_000096 11/10559 0/6727 11/3832
1 c.1703G>A r.(?) p.(Arg568His) g.13778282G>A Copied from the Exome Variant Server OFD1_000098 1/10563 1/6728 0/3835
1 c.1730A>G r.(?) p.(Asn577Ser) g.13778309A>G Copied from the Exome Variant Server OFD1_000075 1/10563 1/6728 0/3835
1 c.1829A>G r.(?) p.(Asn610Ser) g.13778408A>G Copied from the Exome Variant Server OFD1_000077 1/10563 1/6728 0/3835
1 c.1876G>C r.(?) p.(Glu626Gln) g.13778455G>C Copied from the Exome Variant Server OFD1_000079 2/10563 2/6728 0/3835
1 c.1923G>A r.(=) p.(=) g.13778502G>A Copied from the Exome Variant Server OFD1_000081 49/10563 48/6728 1/3835
1 c.2009C>T r.(?) p.(Pro670Leu) g.13778588C>T Copied from the Exome Variant Server OFD1_000083 1/10563 0/6728 1/3835
1 c.2025G>T r.(?) p.(Leu675Phe) g.13778604G>T Copied from the Exome Variant Server OFD1_000085 1/10562 0/6727 1/3835
1 c.2030A>T r.(?) p.(Glu677Val) g.13778609A>T Copied from the Exome Variant Server OFD1_000087 1/10562 0/6727 1/3835
1 c.2033C>G r.(?) p.(Ala678Gly) g.13778612C>G Copied from the Exome Variant Server OFD1_000089 21/10562 0/6727 21/3835
1 c.2044A>C r.(?) p.(Ile682Leu) g.13778623A>C Copied from the Exome Variant Server OFD1_000091 23/10562 0/6727 23/3835
1 c.2052C>T r.(=) p.(=) g.13778631C>T Copied from the Exome Variant Server OFD1_000093 141/10563 1/6728 140/3835
1 c.2060C>T r.(?) p.(Pro687Leu) g.13778639C>T Copied from the Exome Variant Server OFD1_000095 4/10563 4/6728 0/3835
1 c.2192C>T r.(?) p.(Ser731Phe) g.13778771C>T Copied from the Exome Variant Server OFD1_000097 1/10561 0/6726 1/3835
1 c.2202C>G r.(=) p.(=) g.13778781C>G Copied from the Exome Variant Server OFD1_000099 1/10562 0/6727 1/3835
1 c.2235C>T r.(=) p.(=) g.13778814C>T Copied from the Exome Variant Server OFD1_000100 2/10545 2/6721 0/3824
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