All transcript variants in gene FMR1

Information The variants shown are described using the NM_002024.5 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.18G>T r.(=) p.(=) g.146993715G>T Copied from the Exome Variant Server FMR1_000076 85/9636 79/6105 6/3531
?/? c.36T>C r.(=) p.(=) g.146993733T>C Copied from the Exome Variant Server FMR1_000077 1/9688 1/6111 0/3577
?/? c.52-47A>G r.(=) p.(=) g.147003404A>G Copied from the Exome Variant Server FMR1_000078 77/10512 72/6689 5/3823
?/? c.104+42A>G r.(=) p.(=) g.147003545A>G Copied from the Exome Variant Server FMR1_000071 92/10497 2/6681 90/3816
?/? c.104+45_104+46del r.(=) p.(=) g.147003548_147003549del Copied from the Exome Variant Server FMR1_000040 5/10118 2/6417 3/3701
?/? c.105-26A>G r.(=) p.(=) g.147007032A>G Copied from the Exome Variant Server FMR1_000041 1/10563 1/6728 0/3835
?/? c.105-8A>C r.(=) p.(=) g.147007050A>C Copied from the Exome Variant Server FMR1_000042 44/10562 0/6727 44/3835
?/? c.198+9_198+10insC r.(=) p.(=) g.147007160_147007161insC Copied from the Exome Variant Server FMR1_000043 1908/10204 1200/6483 708/3721
?/? c.198+10C>T r.(=) p.(=) g.147007161C>T Copied from the Exome Variant Server FMR1_000044 1/10562 0/6727 1/3835
?/? c.198+25A>G r.(=) p.(=) g.147007176A>G Copied from the Exome Variant Server FMR1_000045 1/10560 1/6725 0/3835
?/? c.199-25A>G r.(=) p.(=) g.147009815A>G Copied from the Exome Variant Server FMR1_000046 14/10562 0/6727 14/3835
?/? c.199-15G>A r.(=) p.(=) g.147009825G>A Copied from the Exome Variant Server FMR1_000047 1/10563 1/6728 0/3835
?/? c.270+33T>C r.(=) p.(=) g.147009944T>C Copied from the Exome Variant Server FMR1_000048 1/10553 1/6722 0/3831
?/? c.271-47_271-44del r.(=) p.(=) g.147010130_147010133del Copied from the Exome Variant Server FMR1_000049 4/10090 3/6435 1/3655
?/? c.271-19A>G r.(=) p.(=) g.147010158A>G Copied from the Exome Variant Server FMR1_000050 343/10547 3/6715 340/3832
?/? c.309C>T r.(=) p.(=) g.147010215C>T Copied from the Exome Variant Server FMR1_000051 4/10563 4/6728 0/3835
?/? c.352_357del r.(?) p.(Asn118_Lys119del) g.147010258_147010263del Copied from the Exome Variant Server FMR1_000052 14/10203 6/6482 8/3721
?/? c.375T>C r.(=) p.(=) g.147010281T>C Copied from the Exome Variant Server FMR1_000053 6/10563 5/6728 1/3835
?/? c.413G>A r.(?) p.(Arg138Gln) g.147010319G>A Copied from the Exome Variant Server FMR1_000054 1/10562 1/6728 0/3834
?/? c.414G>A r.(=) p.(=) g.147010320G>A Copied from the Exome Variant Server FMR1_000055 1179/10562 540/6728 639/3834
?/? c.419+43T>C r.(=) p.(=) g.147010368T>C Copied from the Exome Variant Server FMR1_000056 7/10538 7/6711 0/3827
?/? c.420-38G>A r.(=) p.(=) g.147011429G>A Copied from the Exome Variant Server FMR1_000057 3/10400 3/6652 0/3748
?/? c.420-21del r.(=) p.(=) g.147011446del Copied from the Exome Variant Server FMR1_000059 186/10089 126/6426 60/3663
?/? c.420-21dup r.(=) p.(=) g.147011446dup Copied from the Exome Variant Server FMR1_000058 142/10089 62/6426 80/3663
?/? c.433G>T r.(?) p.(Ala145Ser) g.147011480G>T Copied from the Exome Variant Server FMR1_000060 356/10563 3/6728 353/3835
?/? c.483T>C r.(=) p.(=) g.147011530T>C Copied from the Exome Variant Server FMR1_000061 1/10563 1/6728 0/3835
?/? c.513+34A>G r.(=) p.(=) g.147011594A>G Copied from the Exome Variant Server FMR1_000062 2/10563 0/6728 2/3835
?/? c.513+42G>C r.(=) p.(=) g.147011602G>C Copied from the Exome Variant Server FMR1_000063 1/10563 1/6728 0/3835
?/? c.514-28A>G r.(=) p.(=) g.147011619A>G Copied from the Exome Variant Server FMR1_000064 1/10563 1/6728 0/3835
?/? c.631-48T>C r.(=) p.(=) g.147013896T>C Copied from the Exome Variant Server FMR1_000072 1/10557 1/6724 0/3833
?/? c.631-12A>G r.(=) p.(=) g.147013932A>G Copied from the Exome Variant Server FMR1_000073 1/10563 1/6728 0/3835
?/? c.651G>A r.(=) p.(=) g.147013964G>A Copied from the Exome Variant Server FMR1_000074 6/10563 5/6728 1/3835
?/? c.747G>A r.(=) p.(=) g.147014060G>A Copied from the Exome Variant Server FMR1_000075 1/10563 0/6728 1/3835
?/? c.801+29_801+30insC r.(=) p.(=) g.147014143_147014144insC Copied from the Exome Variant Server FMR1_000065 1/10190 1/6473 0/3717
?/? c.801+31C>T r.(=) p.(=) g.147014145C>T Copied from the Exome Variant Server FMR1_000066 252/10558 231/6725 21/3833
?/? c.802-13C>A r.(=) p.(=) g.147014191C>A Copied from the Exome Variant Server FMR1_000067 1/10560 1/6727 0/3833
?/? c.818A>G r.(?) p.(Lys273Arg) g.147014220A>G Copied from the Exome Variant Server FMR1_000068 3/10558 3/6728 0/3830
?/? c.829A>G r.(?) p.(Ser277Gly) g.147014231A>G Copied from the Exome Variant Server FMR1_000069 1/10560 1/6728 0/3832
?/? c.880+48G>A r.(=) p.(=) g.147014330G>A Copied from the Exome Variant Server FMR1_000070 3/10537 3/6712 0/3825
?/? c.880+52A>G r.(=) p.(=) g.147014334A>G Copied from the Exome Variant Server FMR1_000026 1/6004 1/3598 0/2406
?/? c.881-40A>G r.(=) p.(=) g.147017983A>G Copied from the Exome Variant Server FMR1_000027 1/10560 0/6727 1/3833
?/? c.881-31T>G r.(=) p.(=) g.147017992T>G Copied from the Exome Variant Server FMR1_000028 1/10561 0/6728 1/3833
?/? c.990+14C>T r.(=) p.(=) g.147018146C>T Copied from the Exome Variant Server FMR1_000029 951/10563 464/6728 487/3835
?/? c.1033G>A r.(?) p.(Val345Ile) g.147019027G>A Copied from the Exome Variant Server FMR1_000030 1/10563 0/6728 1/3835
?/? c.1101A>G r.(=) p.(=) g.147019095A>G Copied from the Exome Variant Server FMR1_000031 2/10561 1/6726 1/3835
?/? c.1125+3A>G r.spl? p.? g.147019122A>G Copied from the Exome Variant Server FMR1_000032 1/10562 1/6727 0/3835
?/? c.1125+11C>T r.(=) p.(=) g.147019130C>T Copied from the Exome Variant Server FMR1_000033 1/10562 1/6727 0/3835
?/? c.1126-24C>G r.(=) p.(=) g.147019594C>G Copied from the Exome Variant Server FMR1_000001 1/10563 0/6728 1/3835
?/? c.1126-16C>A r.(=) p.(=) g.147019602C>A Copied from the Exome Variant Server FMR1_000002 1/10563 1/6728 0/3835
?/? c.1126-12A>G r.(=) p.(=) g.147019606A>G Copied from the Exome Variant Server FMR1_000003 1/10563 0/6728 1/3835
?/? c.1161C>T r.(=) p.(=) g.147019653C>T Copied from the Exome Variant Server FMR1_000004 1/10563 0/6728 1/3835
?/? c.1188+58_1188+59insTT r.(=) p.(=) g.147019738_147019739insTT Copied from the Exome Variant Server FMR1_000005 1/10200 0/6483 1/3717
?/? c.1189-44C>G r.(=) p.(=) g.147022051C>G Copied from the Exome Variant Server FMR1_000006 1/10563 0/6728 1/3835
?/? c.1189-42A>G r.(=) p.(=) g.147022053A>G Copied from the Exome Variant Server FMR1_000007 1/10563 1/6728 0/3835
?/? c.1189-17_1189-16insG r.(=) p.(=) g.147022078_147022079insG Copied from the Exome Variant Server FMR1_000008 1/10205 1/6484 0/3721
?/? c.1471+23A>C r.(=) p.(=) g.147024869A>C Copied from the Exome Variant Server FMR1_000009 1/10563 1/6728 0/3835
?/? c.1471+49T>C r.(=) p.(=) g.147024895T>C Copied from the Exome Variant Server FMR1_000010 1/10561 0/6728 1/3833
?/? c.1472-4A>G r.spl? p.? g.147026385A>G Copied from the Exome Variant Server FMR1_000011 1/10562 0/6727 1/3835
?/? c.1488A>G r.(=) p.(=) g.147026405A>G Copied from the Exome Variant Server FMR1_000012 1/10563 1/6728 0/3835
?/? c.1509A>G r.(=) p.(=) g.147026426A>G Copied from the Exome Variant Server FMR1_000013 1/10563 1/6728 0/3835
?/? c.1524C>T r.(=) p.(=) g.147026441C>T Copied from the Exome Variant Server FMR1_000014 1/10563 0/6728 1/3835
?/? c.1563G>T r.(?) p.(Glu521Asp) g.147026480G>T Copied from the Exome Variant Server FMR1_000015 1/10563 1/6728 0/3835
?/? c.1572C>T r.(=) p.(=) g.147026489C>T Copied from the Exome Variant Server FMR1_000016 17/10563 17/6728 0/3835
?/? c.1577T>C r.(?) p.(Leu526Pro) g.147026494T>C Copied from the Exome Variant Server FMR1_000017 1/10563 0/6728 1/3835
?/? c.1598G>A r.(?) p.(Arg533Gln) g.147026515G>A Copied from the Exome Variant Server FMR1_000018 1/10562 1/6727 0/3835
?/? c.1644A>C r.(=) p.(=) g.147026561A>C Copied from the Exome Variant Server FMR1_000019 1/10544 0/6715 1/3829
?/? c.1654+48T>C r.(=) p.(=) g.147026619T>C Copied from the Exome Variant Server FMR1_000020 216/9990 1/6327 215/3663
?/? c.1659C>T r.(=) p.(=) g.147027058C>T Copied from the Exome Variant Server FMR1_000021 1/10563 1/6728 0/3835
?/? c.1672C>A r.(=) p.(=) g.147027071C>A Copied from the Exome Variant Server FMR1_000022 1/10563 0/6728 1/3835
?/? c.1673G>A r.(?) p.(Arg558Gln) g.147027072G>A Copied from the Exome Variant Server FMR1_000023 1/10563 1/6728 0/3835
?/? c.1684C>T r.(?) p.(Arg562Cys) g.147027083C>T Copied from the Exome Variant Server FMR1_000024 1/10563 1/6728 0/3835
?/? c.1695T>C r.(=) p.(=) g.147027094T>C Copied from the Exome Variant Server FMR1_000025 1/10563 1/6728 0/3835
?/? c.1737+8C>A r.(=) p.(=) g.147027144C>A Copied from the Exome Variant Server FMR1_000034 338/10563 2/6728 336/3835
?/? c.1857C>T r.(=) p.(=) g.147030322C>T Copied from the Exome Variant Server FMR1_000035 18/10563 18/6728 0/3835
?/? c.1861G>A r.(?) p.(Val621Met) g.147030326G>A Copied from the Exome Variant Server FMR1_000036 1/10563 0/6728 1/3835
?/? c.*32C>G r.(=) p.(=) g.147030396C>G Copied from the Exome Variant Server FMR1_000037 17/10563 16/6728 1/3835
?/? c.*40G>A r.(=) p.(=) g.147030404G>A Copied from the Exome Variant Server FMR1_000038 3/10563 1/6728 2/3835
?/? c.*42A>G r.(=) p.(=) g.147030406A>G Copied from the Exome Variant Server FMR1_000039 1/10563 1/6728 0/3835
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