All transcript variants in gene NF1

Information The variants shown are described using the NM_000267.3 transcript reference sequence.

520 entries on 6 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.-21del r.(=) p.(=) g.29422307del Copied from the Exome Variant Server NF1_000001 56/7878 39/5358 17/2520
?/? c.61-49G>A r.(=) p.(=) g.29482952G>A Copied from the Exome Variant Server NF1_000002 4/12994 3/8594 1/4400
?/? c.61-27C>T r.(=) p.(=) g.29482974C>T Copied from the Exome Variant Server NF1_000003 1/13000 1/8596 0/4404
?/? c.61-24_61-23insGT r.(=) p.(=) g.29482977_29482978insGT Copied from the Exome Variant Server NF1_000004 50/12512 23/8250 27/4262
?/? c.61-23del r.(=) p.(=) g.29482978del Copied from the Exome Variant Server NF1_000006 214/12512 158/8250 56/4262
?/? c.61-23dup r.(=) p.(=) g.29482978dup Copied from the Exome Variant Server NF1_000005 378/12512 158/8250 220/4262
?/? c.61-23_61-22insTT r.(=) p.(=) g.29482978_29482979insTT Copied from the Exome Variant Server NF1_000007 170/12512 95/8250 75/4262
?/? c.61-12del r.(=) p.(=) g.29482989del Copied from the Exome Variant Server NF1_000009 52/12512 42/8250 10/4262
?/? c.61-12dup r.(=) p.(=) g.29482989dup Copied from the Exome Variant Server NF1_000008 105/12512 34/8250 71/4262
?/? c.61-12_61-11insTT r.(=) p.(=) g.29482989_29482990insTT Copied from the Exome Variant Server NF1_000010 225/12512 111/8250 114/4262
?/? c.105T>C r.(=) p.(=) g.29483045T>C Copied from the Exome Variant Server NF1_000011 1/13006 1/8600 0/4406
?/? c.107C>G r.(?) p.(Thr36Ser) g.29483047C>G Copied from the Exome Variant Server NF1_000012 4/13006 4/8600 0/4406
?/? c.168C>T r.(=) p.(=) g.29483108C>T Copied from the Exome Variant Server NF1_000013 196/13004 180/8598 16/4406
?/? c.200A>G r.(?) p.(Asn67Ser) g.29483140A>G Copied from the Exome Variant Server NF1_000014 2/13006 2/8600 0/4406
?/? c.204+51G>C r.(=) p.(=) g.29483195G>C Copied from the Exome Variant Server NF1_000015 77/13002 70/8598 7/4404
?/? c.231A>T r.(?) p.(Lys77Asn) g.29486054A>T Copied from the Exome Variant Server NF1_000016 1/13002 1/8598 0/4404
?/? c.240_241del r.(?) p.(Gln83Valfs*23) g.29486063_29486064del Copied from the Exome Variant Server NF1_000017 1/12514 0/8252 1/4262
?/? c.288+24G>C r.(=) p.(=) g.29486135G>C Copied from the Exome Variant Server NF1_000018 1/13002 0/8598 1/4404
?/? c.288+41G>A r.(=) p.(=) g.29486152G>A Copied from the Exome Variant Server NF1_000019 7465/13002 6099/8596 1366/4406
?/? c.288+56C>A r.(=) p.(=) g.29486167C>A Copied from the Exome Variant Server NF1_000020 1/4566 0/3182 1/1384
?/? c.340C>T r.(=) p.(=) g.29490255C>T Copied from the Exome Variant Server NF1_000021 52/13006 1/8600 51/4406
?/? c.356A>G r.(?) p.(His119Arg) g.29490271A>G Copied from the Exome Variant Server NF1_000022 1/13006 1/8600 0/4406
?/? c.366C>T r.(=) p.(=) g.29490281C>T Copied from the Exome Variant Server NF1_000023 1/13006 1/8600 0/4406
?/? c.374G>A r.(?) p.(Arg125His) g.29490289G>A Copied from the Exome Variant Server NF1_000024 1/13006 1/8600 0/4406
?/? c.456A>C r.(=) p.(=) g.29490371A>C Copied from the Exome Variant Server NF1_000025 1/13006 1/8600 0/4406
?/? c.475A>G r.(?) p.(Thr159Ala) g.29490390A>G Copied from the Exome Variant Server NF1_000026 1/13006 1/8600 0/4406
?/? c.528T>A r.(?) p.(Asp176Glu) g.29496957T>A Copied from the Exome Variant Server NF1_000027 45/13004 42/8598 3/4406
?/? c.586+12T>C r.(=) p.(=) g.29497027T>C Copied from the Exome Variant Server NF1_000028 1/12980 1/8584 0/4396
?/? c.587-35C>G r.(=) p.(=) g.29508405C>G Copied from the Exome Variant Server NF1_000029 1/12836 1/8538 0/4298
?/? c.587-3C>T r.spl? p.? g.29508437C>T Copied from the Exome Variant Server NF1_000030 1/12964 1/8578 0/4386
?/? c.594A>T r.(=) p.(=) g.29508447A>T Copied from the Exome Variant Server NF1_000031 2/12984 2/8584 0/4400
?/? c.624G>A r.(=) p.(=) g.29508477G>A Copied from the Exome Variant Server NF1_000032 2/12996 0/8590 2/4406
?/? c.654+21T>C r.(=) p.(=) g.29508528T>C Copied from the Exome Variant Server NF1_000033 1/12990 0/8588 1/4402
?/? c.654+24T>C r.(=) p.(=) g.29508531T>C Copied from the Exome Variant Server NF1_000034 1/12982 1/8586 0/4396
?/? c.654+28A>G r.(=) p.(=) g.29508535A>G Copied from the Exome Variant Server NF1_000035 2/12982 2/8588 0/4394
?/? c.655-37A>C r.(=) p.(=) g.29508691A>C Copied from the Exome Variant Server NF1_000036 4/12988 4/8584 0/4404
?/? c.655-35A>C r.(=) p.(=) g.29508693A>C Copied from the Exome Variant Server NF1_000037 18/12988 0/8586 18/4402
?/? c.655-29T>C r.(=) p.(=) g.29508699T>C Copied from the Exome Variant Server NF1_000038 30/12990 28/8586 2/4404
?/? c.655-22A>C r.(=) p.(=) g.29508706A>C Copied from the Exome Variant Server NF1_000039 5/12992 0/8588 5/4404
?/? c.655-5T>C r.spl? p.? g.29508723T>C Copied from the Exome Variant Server NF1_000040 1/12996 0/8590 1/4406
?/? c.696A>G r.(=) p.(=) g.29508769A>G Copied from the Exome Variant Server NF1_000041 1/12998 1/8592 0/4406
?/? c.702G>A r.(=) p.(=) g.29508775G>A Copied from the Exome Variant Server NF1_000042 7466/12998 6101/8592 1365/4406
?/? c.731-6A>C r.(=) p.(=) g.29509520A>C Copied from the Exome Variant Server NF1_000043 4/13006 4/8600 0/4406
?/? c.843C>A r.(=) p.(=) g.29509638C>A Copied from the Exome Variant Server NF1_000044 1/13006 0/8600 1/4406
?/? c.846G>A r.(=) p.(=) g.29509641G>A Copied from the Exome Variant Server NF1_000045 22/13006 22/8600 0/4406
?/? c.864G>C r.(=) p.(=) g.29509659G>C Copied from the Exome Variant Server NF1_000046 1/13004 1/8600 0/4404
?/? c.889-30_889-26del r.(=) p.(=) g.29527410_29527414del Copied from the Exome Variant Server NF1_000047 21/12512 2/8250 19/4262
?/? c.889-17A>G r.(=) p.(=) g.29527423A>G Copied from the Exome Variant Server NF1_000048 1/13006 0/8600 1/4406
?/? c.937A>T r.(?) p.(Ser313Cys) g.29527488A>T Copied from the Exome Variant Server NF1_000049 1/13006 0/8600 1/4406
?/? c.960T>A r.(=) p.(=) g.29527511T>A Copied from the Exome Variant Server NF1_000050 1/13006 1/8600 0/4406
?/? c.1032A>G r.(=) p.(=) g.29527583A>G Copied from the Exome Variant Server NF1_000052 5/13006 5/8600 0/4406
?/? c.1062+21C>T r.(=) p.(=) g.29527634C>T Copied from the Exome Variant Server NF1_000051 1/13006 1/8600 0/4406
?/? c.1095A>T r.(=) p.(=) g.29528087A>T Copied from the Exome Variant Server NF1_000053 1/13004 1/8598 0/4406
?/? c.1137C>T r.(=) p.(=) g.29528129C>T Copied from the Exome Variant Server NF1_000054 6/13006 3/8600 3/4406
?/? c.1166A>G r.(?) p.(His389Arg) g.29528158A>G Copied from the Exome Variant Server NF1_000055 2/13006 2/8600 0/4406
?/? c.1173C>T r.(=) p.(=) g.29528165C>T Copied from the Exome Variant Server NF1_000056 1/13006 1/8600 0/4406
?/? c.1185+14T>C r.(=) p.(=) g.29528191T>C Copied from the Exome Variant Server NF1_000057 1/13006 1/8600 0/4406
?/? c.1185+25C>T r.(=) p.(=) g.29528202C>T Copied from the Exome Variant Server NF1_000058 3/13004 0/8598 3/4406
?/? c.1185+30T>C r.(=) p.(=) g.29528207T>C Copied from the Exome Variant Server NF1_000059 42/13004 0/8598 42/4406
?/? c.1186-45T>A r.(=) p.(=) g.29528384T>A Copied from the Exome Variant Server NF1_000060 1/12656 0/8438 1/4218
?/? c.1186-22del r.(=) p.(=) g.29528407del Copied from the Exome Variant Server NF1_000062 462/12350 309/8176 153/4174
?/? c.1186-22dup r.(=) p.(=) g.29528407dup Copied from the Exome Variant Server NF1_000061 193/12350 131/8176 62/4174
?/? c.1260+19G>C r.(=) p.(=) g.29528522G>C Copied from the Exome Variant Server NF1_000063 1/12992 1/8588 0/4404
?/? c.1260+59G>A r.(=) p.(=) g.29528562G>A Copied from the Exome Variant Server NF1_000064 125/4534 4/3150 121/1384
?/? c.1261-48_1261-47insA r.(=) p.(=) g.29533210_29533211insA Copied from the Exome Variant Server NF1_000065 1/12518 0/8254 1/4264
?/? c.1261-46C>T r.(=) p.(=) g.29533212C>T Copied from the Exome Variant Server NF1_000066 2/13006 0/8600 2/4406
?/? c.1261-22A>G r.(=) p.(=) g.29533236A>G Copied from the Exome Variant Server NF1_000067 1/13006 0/8600 1/4406
?/? c.1296G>A r.(=) p.(=) g.29533293G>A Copied from the Exome Variant Server NF1_000068 1/13006 1/8600 0/4406
?/? c.1379T>C r.(?) p.(Ile460Thr) g.29533376T>C Copied from the Exome Variant Server NF1_000069 1/13006 1/8600 0/4406
?/? c.1392G>A r.(=) p.(=) g.29533389G>A Copied from the Exome Variant Server NF1_000070 1/13006 0/8600 1/4406
?/? c.1393-32T>C r.(=) p.(=) g.29541437T>C Copied from the Exome Variant Server NF1_000071 6897/12232 5926/8212 971/4020
?/? c.1393-28T>C r.(=) p.(=) g.29541441T>C Copied from the Exome Variant Server NF1_000072 1/12356 1/8280 0/4076
?/? c.1466A>G r.(?) p.(Tyr489Cys) g.29541542A>G Copied from the Exome Variant Server NF1_000073 2/13004 1/8598 1/4406
?/? c.1479C>G r.(=) p.(=) g.29541555C>G Copied from the Exome Variant Server NF1_000074 2/13004 2/8598 0/4406
?/? c.1528-46C>T r.(=) p.(=) g.29545977C>T Copied from the Exome Variant Server NF1_000075 1/12894 1/8538 0/4356
?/? c.1528-35del r.(=) p.(=) g.29545988del Copied from the Exome Variant Server NF1_000077 5/12476 1/8236 4/4240
?/? c.1528-35dup r.(=) p.(=) g.29545988dup Copied from the Exome Variant Server NF1_000076 7231/12476 5825/8236 1406/4240
?/? c.1528-26T>C r.(=) p.(=) g.29545997T>C Copied from the Exome Variant Server NF1_000078 1/13000 0/8598 1/4402
?/? c.1528-14T>C r.(=) p.(=) g.29546009T>C Copied from the Exome Variant Server NF1_000079 1/13004 1/8598 0/4406
?/? c.1528-10T>C r.(=) p.(=) g.29546013T>C Copied from the Exome Variant Server NF1_000080 4/13004 4/8598 0/4406
?/? c.1588G>A r.(?) p.(Val530Ile) g.29546083G>A Copied from the Exome Variant Server NF1_000081 2/13006 2/8600 0/4406
?/? c.1599C>G r.(=) p.(=) g.29546094C>G Copied from the Exome Variant Server NF1_000082 1/13006 1/8600 0/4406
?/? c.1641+39T>C r.(=) p.(=) g.29546175T>C Copied from the Exome Variant Server NF1_000083 6971/13006 6094/8600 877/4406
?/? c.1642-30C>T r.(=) p.(=) g.29548838C>T Copied from the Exome Variant Server NF1_000084 4/12994 3/8590 1/4404
?/? c.1642-15T>G r.(=) p.(=) g.29548853T>G Copied from the Exome Variant Server NF1_000085 1/12990 1/8588 0/4402
?/? c.1662G>T r.(?) p.(Gln554His) g.29548888G>T Copied from the Exome Variant Server NF1_000086 1/12996 1/8592 0/4404
?/? c.1722-50G>A r.(=) p.(=) g.29550412G>A Copied from the Exome Variant Server NF1_000087 3/13000 2/8596 1/4404
?/? c.1806A>G r.(=) p.(=) g.29550546A>G Copied from the Exome Variant Server NF1_000088 1/13000 1/8594 0/4406
?/? c.1810T>C r.(=) p.(=) g.29550550T>C Copied from the Exome Variant Server NF1_000089 25/13002 21/8596 4/4406
?/? c.1845+13A>T r.(=) p.(=) g.29550598A>T Copied from the Exome Variant Server NF1_000090 135/12952 4/8568 131/4384
?/? c.1845+15_1845+16del r.(=) p.(=) g.29550600_29550601del Copied from the Exome Variant Server NF1_000091 1/12446 1/8218 0/4228
?/? c.1845+29G>A r.(=) p.(=) g.29550614G>A Copied from the Exome Variant Server NF1_000092 1/12912 1/8556 0/4356
?/? c.1845+45G>A r.(=) p.(=) g.29550630G>A Copied from the Exome Variant Server NF1_000093 34/12874 0/8540 34/4334
?/? c.1846-39C>T r.(=) p.(=) g.29552074C>T Copied from the Exome Variant Server NF1_000094 135/12960 4/8578 131/4382
?/? c.1846-22_1846-19del r.(=) p.(=) g.29552091_29552094del Copied from the Exome Variant Server NF1_000095 4/12496 2/8242 2/4254
?/? c.1846-16A>G r.(=) p.(=) g.29552097A>G Copied from the Exome Variant Server NF1_000096 1/12998 0/8594 1/4404
?/? c.1846-12A>T r.(=) p.(=) g.29552101A>T Copied from the Exome Variant Server NF1_000097 12/13000 1/8598 11/4402
?/? c.1894T>A r.(?) p.(Cys632Ser) g.29552161T>A Copied from the Exome Variant Server NF1_000098 1/13006 1/8600 0/4406
?/? c.1936G>T r.(?) p.(Asp646Tyr) g.29552203G>T Copied from the Exome Variant Server NF1_000099 1/13006 0/8600 1/4406
?/? c.1976G>A r.(?) p.(Arg659Gln) g.29552243G>A Copied from the Exome Variant Server NF1_000100 1/13006 1/8600 0/4406
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