All transcript variants in gene FER

Information The variants shown are described using the NM_005246.2 transcript reference sequence.

151 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19A>T r.(=) p.(=) g.108133865A>T Copied from the Exome Variant Server FER_000002 262/13004 233/8600 29/4404
?/? c.-19del r.(=) p.(=) g.108133865del Copied from the Exome Variant Server FER_000001 4/12518 3/8254 1/4264
?/? c.57C>T r.(=) p.(=) g.108133940C>T Copied from the Exome Variant Server FER_000003 1/13004 1/8600 0/4404
?/? c.67C>T r.(?) p.(Arg23Trp) g.108133950C>T Copied from the Exome Variant Server FER_000004 1/13004 1/8600 0/4404
?/? c.84A>G r.(=) p.(=) g.108133967A>G Copied from the Exome Variant Server FER_000005 2776/13004 1534/8600 1242/4404
?/? c.94A>G r.(?) p.(Met32Val) g.108133977A>G Copied from the Exome Variant Server FER_000006 1/13004 1/8600 0/4404
?/? c.180A>G r.(=) p.(=) g.108134063A>G Copied from the Exome Variant Server FER_000007 1/13004 0/8600 1/4404
?/? c.189T>C r.(=) p.(=) g.108134072T>C Copied from the Exome Variant Server FER_000008 76/13004 1/8600 75/4404
?/? c.195C>T r.(=) p.(=) g.108134078C>T Copied from the Exome Variant Server FER_000009 1/13004 0/8600 1/4404
?/? c.197A>G r.(?) p.(Asn66Ser) g.108134080A>G Copied from the Exome Variant Server FER_000010 1/13004 0/8600 1/4404
?/? c.199G>A r.(?) p.(Val67Ile) g.108134082G>A Copied from the Exome Variant Server FER_000011 1/13004 1/8600 0/4404
?/? c.207+8G>T r.(=) p.(=) g.108134098G>T Copied from the Exome Variant Server FER_000012 1/13002 1/8598 0/4404
?/? c.207+22_207+23del r.(=) p.(=) g.108134112_108134113del Copied from the Exome Variant Server FER_000013 1/12510 1/8248 0/4262
?/? c.208-40T>G r.(=) p.(=) g.108168431T>G Copied from the Exome Variant Server FER_000014 1/12996 1/8600 0/4396
?/? c.208-20C>G r.(=) p.(=) g.108168451C>G Copied from the Exome Variant Server FER_000015 102/13000 1/8600 101/4400
?/? c.208-16T>G r.(=) p.(=) g.108168455T>G Copied from the Exome Variant Server FER_000016 42/12998 0/8596 42/4402
?/? c.234A>G r.(=) p.(=) g.108168497A>G Copied from the Exome Variant Server FER_000017 4/13004 0/8600 4/4404
?/? c.316G>T r.(?) p.(Asp106Tyr) g.108168579G>T Copied from the Exome Variant Server FER_000018 1/13004 1/8600 0/4404
?/? c.381+4C>A r.spl? p.? g.108168648C>A Copied from the Exome Variant Server FER_000020 1/13004 0/8600 1/4404
?/? c.381+51C>T r.(=) p.(=) g.108168695C>T Copied from the Exome Variant Server FER_000022 2/13004 0/8600 2/4404
?/? c.382-33T>A r.(=) p.(=) g.108171376T>A Copied from the Exome Variant Server FER_000024 1/12702 0/8444 1/4258
?/? c.382-31A>C r.(=) p.(=) g.108171378A>C Copied from the Exome Variant Server FER_000026 1/12722 1/8452 0/4270
?/? c.382G>T r.(?) p.(Val128Phe) g.108171409G>T Copied from the Exome Variant Server FER_000027 61/12882 55/8526 6/4356
?/? c.417C>T r.(=) p.(=) g.108171444C>T Copied from the Exome Variant Server FER_000030 71/12896 59/8530 12/4366
?/? c.444T>C r.(=) p.(=) g.108171471T>C Copied from the Exome Variant Server FER_000032 1/12860 1/8508 0/4352
?/? c.456G>A r.(=) p.(=) g.108171483G>A Copied from the Exome Variant Server FER_000019 879/12854 727/8502 152/4352
?/? c.481+9A>C r.(=) p.(=) g.108171517A>C Copied from the Exome Variant Server FER_000021 1/12772 1/8474 0/4298
?/? c.481+24T>C r.(=) p.(=) g.108171532T>C Copied from the Exome Variant Server FER_000023 86/12720 0/8444 86/4276
?/? c.481+51G>A r.(=) p.(=) g.108171559G>A Copied from the Exome Variant Server FER_000025 3/12474 0/8368 3/4106
?/? c.482-51A>G r.(=) p.(=) g.108203417A>G Copied from the Exome Variant Server FER_000028 37/12998 29/8594 8/4404
?/? c.482-16_482-15del r.(=) p.(=) g.108203452_108203453del Copied from the Exome Variant Server FER_000029 58/12518 32/8254 26/4264
?/? c.482-16_482-15dup r.(=) p.(=) g.108203452_108203453dup Copied from the Exome Variant Server FER_000031 59/12518 48/8254 11/4264
?/? c.482-15del r.(=) p.(=) g.108203453del Copied from the Exome Variant Server FER_000034 3024/12518 1759/8254 1265/4264
?/? c.482-15dup r.(=) p.(=) g.108203453dup Copied from the Exome Variant Server FER_000033 1821/12518 1322/8254 499/4264
?/? c.526A>G r.(?) p.(Met176Val) g.108203512A>G Copied from the Exome Variant Server FER_000035 1/13004 1/8600 0/4404
?/? c.551A>G r.(?) p.(Gln184Arg) g.108203537A>G Copied from the Exome Variant Server FER_000036 1/13004 1/8600 0/4404
?/? c.565T>C r.(=) p.(=) g.108203551T>C Copied from the Exome Variant Server FER_000037 4/13004 0/8600 4/4404
?/? c.602A>G r.(?) p.(Asp201Gly) g.108203588A>G Copied from the Exome Variant Server FER_000038 1/13004 0/8600 1/4404
?/? c.621T>C r.(=) p.(=) g.108203607T>C Copied from the Exome Variant Server FER_000039 1/13004 0/8600 1/4404
?/? c.648A>G r.(=) p.(=) g.108203634A>G Copied from the Exome Variant Server FER_000040 1/13002 1/8600 0/4402
?/? c.665+21A>G r.(=) p.(=) g.108203672A>G Copied from the Exome Variant Server FER_000041 1/12996 1/8594 0/4402
?/? c.675A>G r.(?) p.(Ile225Met) g.108207075A>G Copied from the Exome Variant Server FER_000042 1/13000 0/8596 1/4404
?/? c.724A>T r.(?) p.(Asn242Tyr) g.108207124A>T Copied from the Exome Variant Server FER_000043 1/12992 1/8588 0/4404
?/? c.733A>G r.(?) p.(Lys245Glu) g.108207133A>G Copied from the Exome Variant Server FER_000044 1/12990 1/8586 0/4404
?/? c.739A>T r.(?) p.(Ile247Phe) g.108207139A>T Copied from the Exome Variant Server FER_000045 1/12996 1/8592 0/4404
?/? c.749C>T r.(?) p.(Ser250Leu) g.108207149C>T Copied from the Exome Variant Server FER_000046 1/12998 0/8594 1/4404
?/? c.772A>G r.(?) p.(Thr258Ala) g.108207172A>G Copied from the Exome Variant Server FER_000047 1/13000 1/8596 0/4404
?/? c.782A>G r.(?) p.(Asn261Ser) g.108207182A>G Copied from the Exome Variant Server FER_000048 1/13000 1/8596 0/4404
?/? c.803+40A>G r.(=) p.(=) g.108207243A>G Copied from the Exome Variant Server FER_000049 8/12988 7/8586 1/4402
?/? c.834G>A r.(=) p.(=) g.108207824G>A Copied from the Exome Variant Server FER_000050 1/12982 1/8582 0/4400
?/? c.849A>G r.(=) p.(=) g.108207839A>G Copied from the Exome Variant Server FER_000051 1/12980 1/8580 0/4400
?/? c.896A>G r.(?) p.(Asn299Ser) g.108207886A>G Copied from the Exome Variant Server FER_000052 1/12996 0/8596 1/4400
?/? c.898T>G r.(?) p.(Leu300Val) g.108207888T>G Copied from the Exome Variant Server FER_000053 7/12996 0/8596 7/4400
?/? c.922A>G r.(?) p.(Met308Val) g.108207912A>G Copied from the Exome Variant Server FER_000054 2/12990 2/8590 0/4400
?/? c.923+39A>G r.(=) p.(=) g.108207952A>G Copied from the Exome Variant Server FER_000055 1/12924 1/8538 0/4386
?/? c.928A>G r.(?) p.(Lys310Glu) g.108219101A>G Copied from the Exome Variant Server FER_000056 1/13004 1/8600 0/4404
?/? c.933G>A r.(=) p.(=) g.108219106G>A Copied from the Exome Variant Server FER_000057 1/13004 1/8600 0/4404
?/? c.939G>A r.(=) p.(=) g.108219112G>A Copied from the Exome Variant Server FER_000058 1/13004 0/8600 1/4404
?/? c.940G>C r.(?) p.(Glu314Gln) g.108219113G>C Copied from the Exome Variant Server FER_000059 1/13004 0/8600 1/4404
?/? c.966G>T r.(?) p.(Met322Ile) g.108219139G>T Copied from the Exome Variant Server FER_000060 1/13004 1/8600 0/4404
?/? c.1040A>G r.(?) p.(Lys347Arg) g.108219213A>G Copied from the Exome Variant Server FER_000061 1/13004 0/8600 1/4404
?/? c.1046+18A>C r.(=) p.(=) g.108219237A>C Copied from the Exome Variant Server FER_000062 2/13002 2/8600 0/4402
?/? c.1046+19A>G r.(=) p.(=) g.108219238A>G Copied from the Exome Variant Server FER_000063 18/13002 17/8600 1/4402
?/? c.1047-38T>G r.(=) p.(=) g.108233322T>G Copied from the Exome Variant Server FER_000064 1/12914 0/8568 1/4346
?/? c.1049T>C r.(?) p.(Ile350Thr) g.108233362T>C Copied from the Exome Variant Server FER_000065 70/13004 1/8600 69/4404
?/? c.1050T>C r.(=) p.(=) g.108233363T>C Copied from the Exome Variant Server FER_000066 1/13004 0/8600 1/4404
?/? c.1076C>T r.(?) p.(Ala359Val) g.108233389C>T Copied from the Exome Variant Server FER_000067 1/13004 1/8600 0/4404
?/? c.1083A>G r.(=) p.(=) g.108233396A>G Copied from the Exome Variant Server FER_000068 1/13004 1/8600 0/4404
?/? c.1104G>A r.(=) p.(=) g.108233417G>A Copied from the Exome Variant Server FER_000069 1/13004 1/8600 0/4404
?/? c.1122A>G r.(=) p.(=) g.108233435A>G Copied from the Exome Variant Server FER_000070 1/13004 1/8600 0/4404
?/? c.1149A>G r.(=) p.(=) g.108233462A>G Copied from the Exome Variant Server FER_000072 323/13004 0/8600 323/4404
?/? c.1174G>T r.(?) p.(Asp392Tyr) g.108233487G>T Copied from the Exome Variant Server FER_000074 10/13004 10/8600 0/4404
?/? c.1234A>G r.(?) p.(Met412Val) g.108233547A>G Copied from the Exome Variant Server FER_000076 324/13004 0/8600 324/4404
?/? c.1236+37A>T r.(=) p.(=) g.108233586A>T Copied from the Exome Variant Server FER_000079 1/13004 1/8600 0/4404
?/? c.1237-52T>C r.(=) p.(=) g.108281779T>C Copied from the Exome Variant Server FER_000081 1375/10300 1025/7164 350/3136
?/? c.1237-49A>G r.(=) p.(=) g.108281782A>G Copied from the Exome Variant Server FER_000071 135/13002 1/8598 134/4404
?/? c.1237-32G>C r.(=) p.(=) g.108281799G>C Copied from the Exome Variant Server FER_000073 1/13004 1/8600 0/4404
?/? c.1237-11A>G r.(=) p.(=) g.108281820A>G Copied from the Exome Variant Server FER_000075 1/13004 1/8600 0/4404
?/? c.1243A>C r.(?) p.(Lys415Gln) g.108281837A>C Copied from the Exome Variant Server FER_000077 2/13004 2/8600 0/4404
?/? c.1269T>G r.(=) p.(=) g.108281863T>G Copied from the Exome Variant Server FER_000078 3/13004 0/8600 3/4404
?/? c.1273C>T r.(?) p.(Arg425Cys) g.108281867C>T Copied from the Exome Variant Server FER_000080 1/13004 1/8600 0/4404
?/? c.1296T>C r.(=) p.(=) g.108281890T>C Copied from the Exome Variant Server FER_000082 1/13004 0/8600 1/4404
?/? c.1315C>G r.(?) p.(Leu439Val) g.108281909C>G Copied from the Exome Variant Server FER_000083 524/13004 482/8600 42/4404
?/? c.1317G>A r.(=) p.(=) g.108281911G>A Copied from the Exome Variant Server FER_000084 1/13004 0/8600 1/4404
?/? c.1329+10A>T r.(=) p.(=) g.108281933A>T Copied from the Exome Variant Server FER_000085 1/13002 1/8598 0/4404
?/? c.1329+15_1329+16del r.(=) p.(=) g.108281938_108281939del Copied from the Exome Variant Server FER_000086 1/12516 1/8252 0/4264
?/? c.1329+48C>A r.(=) p.(=) g.108281971C>A Copied from the Exome Variant Server FER_000087 11/13000 0/8596 11/4404
?/? c.1330-26del r.(=) p.(=) g.108290404del Copied from the Exome Variant Server FER_000089 2127/11850 1001/7908 1126/3942
?/? c.1330-26dup r.(=) p.(=) g.108290404dup Copied from the Exome Variant Server FER_000088 1304/11850 1078/7908 226/3942
?/? c.1330-14del r.(=) p.(=) g.108290416del Copied from the Exome Variant Server FER_000090 95/12232 38/8120 57/4112
?/? c.1330-11A>G r.(=) p.(=) g.108290419A>G Copied from the Exome Variant Server FER_000091 1/12934 1/8566 0/4368
?/? c.1446G>A r.(=) p.(=) g.108290546G>A Copied from the Exome Variant Server FER_000092 3/13004 3/8600 0/4404
?/? c.1469G>A r.(?) p.(Gly490Asp) g.108290569G>A Copied from the Exome Variant Server FER_000093 1/13002 1/8598 0/4404
?/? c.1529T>A r.(?) p.(Val510Asp) g.108290629T>A Copied from the Exome Variant Server FER_000094 1/13002 1/8598 0/4404
?/? c.1533+5G>A r.spl? p.? g.108290638G>A Copied from the Exome Variant Server FER_000095 1/13002 1/8598 0/4404
?/? c.1533+21A>G r.(=) p.(=) g.108290654A>G Copied from the Exome Variant Server FER_000096 1/13002 0/8598 1/4404
?/? c.1533+27A>G r.(=) p.(=) g.108290660A>G Copied from the Exome Variant Server FER_000097 1/13002 1/8598 0/4404
?/? c.1534-37T>G r.(=) p.(=) g.108294889T>G Copied from the Exome Variant Server FER_000098 2/13004 0/8600 2/4404
?/? c.1534-26A>G r.(=) p.(=) g.108294900A>G Copied from the Exome Variant Server FER_000099 2/13004 2/8600 0/4404
?/? c.1544G>A r.(?) p.(Arg515Gln) g.108294936G>A Copied from the Exome Variant Server FER_000100 1/13004 1/8600 0/4404
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