All transcript variants in gene FH

Information The variants shown are described using the NM_000143.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-33G>A r.(=) p.(=) g.241683055C>T Copied from the Exome Variant Server FH_000072 1/11024 1/7330 0/3694
?/? c.-11C>T r.(=) p.(=) g.241683033G>A Copied from the Exome Variant Server FH_000071 11/11308 10/7538 1/3770
?/? c.-3A>G r.(=) p.(=) g.241683025T>C Copied from the Exome Variant Server FH_000070 1/11396 1/7598 0/3798
?/? c.2T>C r.? p.? g.241683021A>G Copied from the Exome Variant Server FH_000069 1/11376 1/7582 0/3794
?/? c.33G>C r.(=) p.(=) g.241682990C>G Copied from the Exome Variant Server FH_000068 1/11052 1/7376 0/3676
?/? c.35G>T r.(?) p.(Arg12Leu) g.241682988C>A Copied from the Exome Variant Server FH_000067 1/11010 0/7338 1/3672
?/? c.50C>T r.(?) p.(Ala17Val) g.241682973G>A Copied from the Exome Variant Server FH_000066 4/10582 0/7012 4/3570
?/? c.53C>T r.(?) p.(Pro18Leu) g.241682970G>A Copied from the Exome Variant Server FH_000065 44/10588 0/7000 44/3588
?/? c.105G>A r.(=) p.(=) g.241682918C>T Copied from the Exome Variant Server FH_000064 33/9970 0/6536 33/3434
?/? c.189A>G r.(=) p.(=) g.241680560T>C Copied from the Exome Variant Server FH_000063 1/13006 0/8600 1/4406
?/? c.194A>G r.(?) p.(Asp65Gly) g.241680555T>C Copied from the Exome Variant Server FH_000062 1/13006 1/8600 0/4406
?/? c.207C>T r.(=) p.(=) g.241680542G>A Copied from the Exome Variant Server FH_000061 1/13006 1/8600 0/4406
?/? c.217G>A r.(?) p.(Val73Met) g.241680532C>T Copied from the Exome Variant Server FH_000060 1/13006 1/8600 0/4406
?/? c.222A>T r.(?) p.(Arg74Ser) g.241680527T>A Copied from the Exome Variant Server FH_000059 1/13006 1/8600 0/4406
?/? c.228G>C r.(=) p.(=) g.241680521C>G Copied from the Exome Variant Server FH_000058 1/13006 0/8600 1/4406
?/? c.259C>T r.(?) p.(Arg87Cys) g.241680490G>A Copied from the Exome Variant Server FH_000056 1/13006 0/8600 1/4406
?/? c.268-22A>T r.(=) p.(=) g.241677035T>A Copied from the Exome Variant Server FH_000054 283/12998 200/8594 83/4404
?/? c.305C>T r.(?) p.(Ala102Val) g.241676976G>A Copied from the Exome Variant Server FH_000052 1/13006 1/8600 0/4406
?/? c.306G>A r.(=) p.(=) g.241676975C>T Copied from the Exome Variant Server FH_000050 10/13006 0/8600 10/4406
?/? c.309C>T r.(=) p.(=) g.241676972G>A Copied from the Exome Variant Server FH_000048 389/13006 3/8600 386/4406
?/? c.346A>T r.(?) p.(Ile116Phe) g.241676935T>A Copied from the Exome Variant Server FH_000047 1/13006 1/8600 0/4406
?/? c.379-15A>T r.(=) p.(=) g.241675458T>A Copied from the Exome Variant Server FH_000045 1/13006 0/8600 1/4406
?/? c.379-7_379-6insT r.(=) p.(=) g.241675449_241675450insA Copied from the Exome Variant Server FH_000057 1/12518 1/8252 0/4266
?/? c.399T>C r.(=) p.(=) g.241675423A>G Copied from the Exome Variant Server FH_000055 1/13006 1/8600 0/4406
?/? c.477T>C r.(=) p.(=) g.241675345A>G Copied from the Exome Variant Server FH_000053 1/13006 0/8600 1/4406
?/? c.504del r.(?) p.(Glu168Aspfs*34) g.241675318del Copied from the Exome Variant Server FH_000051 69/12518 44/8252 25/4266
?/? c.521C>G r.(?) p.(Pro174Arg) g.241675301G>C Copied from the Exome Variant Server FH_000049 2/13006 0/8600 2/4406
?/? c.534C>T r.(=) p.(=) g.241675288G>A Copied from the Exome Variant Server FH_000046 1/13006 1/8600 0/4406
?/? c.552C>T r.(=) p.(=) g.241675270G>A Copied from the Exome Variant Server FH_000044 2/13006 0/8600 2/4406
?/? c.555+27_555+28insT r.(=) p.(=) g.241675239_241675240insA Copied from the Exome Variant Server FH_000043 58/12520 1/8254 57/4266
?/? c.556-28T>C r.(=) p.(=) g.241672113A>G Copied from the Exome Variant Server FH_000042 13/12996 12/8598 1/4398
?/? c.556-4A>G r.spl? p.? g.241672089T>C Copied from the Exome Variant Server FH_000041 2/13006 2/8600 0/4406
?/? c.639G>A r.(=) p.(=) g.241672002C>T Copied from the Exome Variant Server FH_000040 1/13006 1/8600 0/4406
?/? c.674T>C r.(?) p.(Phe225Ser) g.241671967A>G Copied from the Exome Variant Server FH_000039 1/13006 1/8600 0/4406
?/? c.700A>G r.(?) p.(Thr234Ala) g.241671941T>C Copied from the Exome Variant Server FH_000038 1/13006 1/8600 0/4406
?/? c.759A>G r.(=) p.(=) g.241669448T>C Copied from the Exome Variant Server FH_000037 4/13006 0/8600 4/4406
?/? c.792T>C r.(=) p.(=) g.241669415A>G Copied from the Exome Variant Server FH_000036 1/13006 0/8600 1/4406
?/? c.805A>G r.(?) p.(Ile269Val) g.241669402T>C Copied from the Exome Variant Server FH_000035 1/13006 0/8600 1/4406
?/? c.883G>A r.(?) p.(Ala295Thr) g.241669324C>T Copied from the Exome Variant Server FH_000034 5/13006 0/8600 5/4406
?/? c.894T>C r.(=) p.(=) g.241669313A>G Copied from the Exome Variant Server FH_000033 1/13006 0/8600 1/4406
?/? c.904+47G>A r.(=) p.(=) g.241669256C>T Copied from the Exome Variant Server FH_000032 212/13006 193/8600 19/4406
?/? c.904+49G>C r.(=) p.(=) g.241669254C>G Copied from the Exome Variant Server FH_000031 7/13006 0/8600 7/4406
?/? c.905-39A>G r.(=) p.(=) g.241667584T>C Copied from the Exome Variant Server FH_000030 18/12964 17/8588 1/4376
?/? c.905-30A>T r.(=) p.(=) g.241667575T>A Copied from the Exome Variant Server FH_000029 1/12988 0/8594 1/4394
?/? c.905-21G>A r.(=) p.(=) g.241667566C>T Copied from the Exome Variant Server FH_000028 11/13004 0/8600 11/4404
?/? c.927G>A r.(=) p.(=) g.241667523C>T Copied from the Exome Variant Server FH_000027 287/13006 202/8600 85/4406
?/? c.957C>T r.(=) p.(=) g.241667493G>A Copied from the Exome Variant Server FH_000026 1/13006 0/8600 1/4406
?/? c.982A>C r.(?) p.(Met328Leu) g.241667468T>G Copied from the Exome Variant Server FH_000025 1/13006 0/8600 1/4406
?/? c.1108+31A>G r.(=) p.(=) g.241667311T>C Copied from the Exome Variant Server FH_000024 1/13004 0/8598 1/4406
?/? c.1109-51A>T r.(=) p.(=) g.241665921T>A Copied from the Exome Variant Server FH_000023 13/13006 0/8600 13/4406
?/? c.1109-35_1109-34del r.(=) p.(=) g.241665904_241665905del Copied from the Exome Variant Server FH_000022 41/12520 0/8254 41/4266
?/? c.1127A>C r.(?) p.(Gln376Pro) g.241665852T>G Copied from the Exome Variant Server FH_000021 1/13006 1/8600 0/4406
?/? c.1236+5G>A r.spl? p.? g.241665738C>T Copied from the Exome Variant Server FH_000020 1/13006 0/8600 1/4406
?/? c.1236+14C>T r.(=) p.(=) g.241665729G>A Copied from the Exome Variant Server FH_000019 83/13006 0/8600 83/4406
?/? c.1237-7C>T r.(=) p.(=) g.241663897G>A Copied from the Exome Variant Server FH_000018 7/13006 0/8600 7/4406
?/? c.1237-5C>T r.spl? p.? g.241663895G>A Copied from the Exome Variant Server FH_000017 1/13006 1/8600 0/4406
?/? c.1299C>T r.(=) p.(=) g.241663828G>A Copied from the Exome Variant Server FH_000016 1/13006 1/8600 0/4406
?/? c.1302C>T r.(=) p.(=) g.241663825G>A Copied from the Exome Variant Server FH_000015 433/13006 5/8600 428/4406
?/? c.1303G>A r.(?) p.(Val435Met) g.241663824C>T Copied from the Exome Variant Server FH_000014 4/13006 1/8600 3/4406
?/? c.1314C>T r.(=) p.(=) g.241663813G>A Copied from the Exome Variant Server FH_000013 2/13002 2/8596 0/4406
?/? c.1347G>C r.(?) p.(Met449Ile) g.241663780C>G Copied from the Exome Variant Server FH_000012 1/13006 0/8600 1/4406
?/? c.1390+36G>A r.(=) p.(=) g.241663701C>T Copied from the Exome Variant Server FH_000011 2/13006 2/8600 0/4406
?/? c.1391-43T>C r.(=) p.(=) g.241661313A>G Copied from the Exome Variant Server FH_000010 1/13006 0/8600 1/4406
?/? c.1391-40C>G r.(=) p.(=) g.241661310G>C Copied from the Exome Variant Server FH_000009 4/13006 4/8600 0/4406
?/? c.1391-22C>T r.(=) p.(=) g.241661292G>A Copied from the Exome Variant Server FH_000008 1/13006 0/8600 1/4406
?/? c.1391-21G>A r.(=) p.(=) g.241661291C>T Copied from the Exome Variant Server FH_000007 2/13006 2/8600 0/4406
?/? c.1421C>T r.(?) p.(Thr474Ile) g.241661240G>A Copied from the Exome Variant Server FH_000006 1/13006 1/8600 0/4406
?/? c.1433_1434insAAA r.(?) p.(Lys477dup) g.241661227_241661228insTTT Copied from the Exome Variant Server FH_000005 15/12520 15/8254 0/4266
?/? c.1461C>T r.(=) p.(=) g.241661200G>A Copied from the Exome Variant Server FH_000004 1/13006 0/8600 1/4406
?/? c.1470C>T r.(=) p.(=) g.241661191G>A Copied from the Exome Variant Server FH_000003 1/13006 1/8600 0/4406
?/? c.*7T>A r.(=) p.(=) g.241661121A>T Copied from the Exome Variant Server FH_000002 1/12988 1/8588 0/4400
?/? c.*27A>G r.(=) p.(=) g.241661101T>C Copied from the Exome Variant Server FH_000001 2/12794 1/8460 1/4334
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