All transcript variants in gene NF2

Information The variants shown are described using the NM_000268.3 transcript reference sequence.

108 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.-48A>C r.(=) p.(=) g.29999940A>C Copied from the Exome Variant Server NF2_000001 3/12634 0/8368 3/4266
?/? c.12C>T r.(=) p.(=) g.29999999C>T Copied from the Exome Variant Server NF2_000002 16/13000 0/8598 16/4402
?/? c.36C>T r.(=) p.(=) g.30000023C>T Copied from the Exome Variant Server NF2_000003 1/13004 1/8600 0/4404
?/? c.94G>A r.(?) p.(Glu32Lys) g.30000081G>A Copied from the Exome Variant Server NF2_000004 1/13006 0/8600 1/4406
?/? c.115-20C>A r.(=) p.(=) g.30032720C>A Copied from the Exome Variant Server NF2_000005 1/13006 1/8600 0/4406
?/? c.133G>T r.(?) p.(Asp45Tyr) g.30032758G>T Copied from the Exome Variant Server NF2_000006 1/13006 0/8600 1/4406
?/? c.186T>C r.(=) p.(=) g.30032811T>C Copied from the Exome Variant Server NF2_000007 1/13006 1/8600 0/4406
?/? c.240+15C>T r.(=) p.(=) g.30032880C>T Copied from the Exome Variant Server NF2_000008 1/13006 1/8600 0/4406
?/? c.241-48A>T r.(=) p.(=) g.30035031A>T Copied from the Exome Variant Server NF2_000009 2/13006 0/8600 2/4406
?/? c.241-31T>C r.(=) p.(=) g.30035048T>C Copied from the Exome Variant Server NF2_000010 1/13006 0/8600 1/4406
?/? c.241-27T>C r.(=) p.(=) g.30035052T>C Copied from the Exome Variant Server NF2_000011 1/13006 0/8600 1/4406
?/? c.246G>A r.(=) p.(=) g.30035084G>A Copied from the Exome Variant Server NF2_000012 1/13006 1/8600 0/4406
?/? c.252T>C r.(=) p.(=) g.30035090T>C Copied from the Exome Variant Server NF2_000013 1/13006 1/8600 0/4406
?/? c.255T>C r.(=) p.(=) g.30035093T>C Copied from the Exome Variant Server NF2_000014 1/13006 1/8600 0/4406
?/? c.256G>A r.(?) p.(Val86Ile) g.30035094G>A Copied from the Exome Variant Server NF2_000015 1/13006 0/8600 1/4406
?/? c.274G>A r.(?) p.(Val92Ile) g.30035112G>A Copied from the Exome Variant Server NF2_000016 1/13006 0/8600 1/4406
?/? c.325C>T r.(=) p.(=) g.30035163C>T Copied from the Exome Variant Server NF2_000017 2/13006 2/8600 0/4406
?/? c.347A>G r.(?) p.(His116Arg) g.30035185A>G Copied from the Exome Variant Server NF2_000018 1/13006 0/8600 1/4406
?/? c.363+19del r.(=) p.(=) g.30035220del Copied from the Exome Variant Server NF2_000019 1/12518 1/8254 0/4264
?/? c.363+24C>T r.(=) p.(=) g.30035225C>T Copied from the Exome Variant Server NF2_000020 1/13006 1/8600 0/4406
?/? c.364-39A>C r.(=) p.(=) g.30038152A>C Copied from the Exome Variant Server NF2_000021 1722/13006 1531/8600 191/4406
?/? c.368A>G r.(?) p.(Lys123Arg) g.30038195A>G Copied from the Exome Variant Server NF2_000022 1/13006 1/8600 0/4406
?/? c.448-17C>T r.(=) p.(=) g.30050629C>T Copied from the Exome Variant Server NF2_000023 23/13006 0/8600 23/4406
?/? c.459C>T r.(=) p.(=) g.30050657C>T Copied from the Exome Variant Server NF2_000024 1/13006 1/8600 0/4406
?/? c.465C>T r.(=) p.(=) g.30050663C>T Copied from the Exome Variant Server NF2_000025 1/13006 1/8600 0/4406
?/? c.478C>T r.(?) p.(Arg160Trp) g.30050676C>T Copied from the Exome Variant Server NF2_000026 1/13006 1/8600 0/4406
?/? c.516+32A>G r.(=) p.(=) g.30050746A>G Copied from the Exome Variant Server NF2_000027 4/13006 4/8600 0/4406
?/? c.517-29G>A r.(=) p.(=) g.30051554G>A Copied from the Exome Variant Server NF2_000028 1/13006 1/8600 0/4406
?/? c.543G>A r.(=) p.(=) g.30051609G>A Copied from the Exome Variant Server NF2_000029 1/13006 1/8600 0/4406
?/? c.576C>T r.(=) p.(=) g.30051642C>T Copied from the Exome Variant Server NF2_000030 1/13006 1/8600 0/4406
?/? c.599+7C>A r.(=) p.(=) g.30051672C>A Copied from the Exome Variant Server NF2_000031 1/13006 1/8600 0/4406
?/? c.600-28A>G r.(=) p.(=) g.30054150A>G Copied from the Exome Variant Server NF2_000032 1/13006 1/8600 0/4406
?/? c.600-14C>T r.(=) p.(=) g.30054164C>T Copied from the Exome Variant Server NF2_000033 1/13006 1/8600 0/4406
?/? c.600-13G>A r.(=) p.(=) g.30054165G>A Copied from the Exome Variant Server NF2_000034 2/13006 1/8600 1/4406
?/? c.613A>G r.(?) p.(Met205Val) g.30054191A>G Copied from the Exome Variant Server NF2_000035 2/13006 1/8600 1/4406
?/? c.651C>T r.(=) p.(=) g.30054229C>T Copied from the Exome Variant Server NF2_000036 1/13006 0/8600 1/4406
?/? c.675+49T>C r.(=) p.(=) g.30054302T>C Copied from the Exome Variant Server NF2_000037 2/13006 0/8600 2/4406
?/? c.676-35G>A r.(=) p.(=) g.30057159G>A Copied from the Exome Variant Server NF2_000038 2/13006 0/8600 2/4406
?/? c.676-33C>T r.(=) p.(=) g.30057161C>T Copied from the Exome Variant Server NF2_000039 3/13006 1/8600 2/4406
?/? c.676-9G>T r.(=) p.(=) g.30057185G>T Copied from the Exome Variant Server NF2_000040 1/13006 0/8600 1/4406
?/? c.683A>G r.(?) p.(Lys228Arg) g.30057201A>G Copied from the Exome Variant Server NF2_000041 2/13006 2/8600 0/4406
?/? c.738T>C r.(=) p.(=) g.30057256T>C Copied from the Exome Variant Server NF2_000042 1/13006 0/8600 1/4406
?/? c.795G>A r.(=) p.(=) g.30057313G>A Copied from the Exome Variant Server NF2_000043 1/13006 0/8600 1/4406
?/? c.810+8_810+9del r.(=) p.(=) g.30057336_30057337del Copied from the Exome Variant Server NF2_000044 1/12518 1/8254 0/4264
?/? c.810+21A>G r.(=) p.(=) g.30057349A>G Copied from the Exome Variant Server NF2_000045 1/13006 0/8600 1/4406
?/? c.810+46G>A r.(=) p.(=) g.30057374G>A Copied from the Exome Variant Server NF2_000046 1/13006 1/8600 0/4406
?/? c.811-40del r.(=) p.(=) g.30060939del Copied from the Exome Variant Server NF2_000047 14/12518 10/8254 4/4264
?/? c.811-30C>G r.(=) p.(=) g.30060949C>G Copied from the Exome Variant Server NF2_000048 1/13006 1/8600 0/4406
?/? c.811-17C>G r.(=) p.(=) g.30060962C>G Copied from the Exome Variant Server NF2_000049 12/13006 0/8600 12/4406
?/? c.861C>T r.(=) p.(=) g.30061029C>T Copied from the Exome Variant Server NF2_000050 1/13006 1/8600 0/4406
?/? c.879T>C r.(=) p.(=) g.30061047T>C Copied from the Exome Variant Server NF2_000051 2/13004 0/8600 2/4404
?/? c.885+10G>C r.(=) p.(=) g.30061063G>C Copied from the Exome Variant Server NF2_000052 1/13004 1/8600 0/4404
?/? c.885+36G>A r.(=) p.(=) g.30061089G>A Copied from the Exome Variant Server NF2_000053 1/13006 0/8600 1/4406
?/? c.885+52T>C r.(=) p.(=) g.30061105T>C Copied from the Exome Variant Server NF2_000054 1/7272 0/4618 1/2654
?/? c.886-37T>C r.(=) p.(=) g.30064285T>C Copied from the Exome Variant Server NF2_000055 2/13006 0/8600 2/4406
?/? c.886-32A>G r.(=) p.(=) g.30064290A>G Copied from the Exome Variant Server NF2_000056 7/13006 0/8600 7/4406
?/? c.886-19T>G r.(=) p.(=) g.30064303T>G Copied from the Exome Variant Server NF2_000057 1/13006 0/8600 1/4406
?/? c.886-15C>T r.(=) p.(=) g.30064307C>T Copied from the Exome Variant Server NF2_000058 4/13006 3/8600 1/4406
?/? c.912T>C r.(=) p.(=) g.30064348T>C Copied from the Exome Variant Server NF2_000059 1/13006 1/8600 0/4406
?/? c.948G>T r.(?) p.(Leu316Phe) g.30064384G>T Copied from the Exome Variant Server NF2_000060 1/13006 1/8600 0/4406
?/? c.999+15G>A r.(=) p.(=) g.30064450G>A Copied from the Exome Variant Server NF2_000061 3/13006 3/8600 0/4406
?/? c.999+39_999+40insG r.(=) p.(=) g.30064474_30064475insG Copied from the Exome Variant Server NF2_000062 1/12518 0/8254 1/4264
?/? c.1000-35G>A r.(=) p.(=) g.30067780G>A Copied from the Exome Variant Server NF2_000063 40/13006 0/8600 40/4406
?/? c.1000-16T>C r.(=) p.(=) g.30067799T>C Copied from the Exome Variant Server NF2_000064 3/13006 2/8600 1/4406
?/? c.1006C>T r.(?) p.(Arg336Trp) g.30067821C>T Copied from the Exome Variant Server NF2_000065 1/13006 0/8600 1/4406
?/? c.1056G>A r.(=) p.(=) g.30067871G>A Copied from the Exome Variant Server NF2_000066 1/13006 1/8600 0/4406
?/? c.1113C>T r.(=) p.(=) g.30067928C>T Copied from the Exome Variant Server NF2_000067 1/13006 0/8600 1/4406
?/? c.1122+25C>G r.(=) p.(=) g.30067962C>G Copied from the Exome Variant Server NF2_000068 1/13006 1/8600 0/4406
?/? c.1122+36T>C r.(=) p.(=) g.30067973T>C Copied from the Exome Variant Server NF2_000069 2/13006 2/8600 0/4406
?/? c.1123-51C>T r.(=) p.(=) g.30069207C>T Copied from the Exome Variant Server NF2_000070 1358/12598 1254/8336 104/4262
?/? c.1123-24A>G r.(=) p.(=) g.30069234A>G Copied from the Exome Variant Server NF2_000071 1/12888 1/8534 0/4354
?/? c.1123-6C>T r.(=) p.(=) g.30069252C>T Copied from the Exome Variant Server NF2_000072 22/12958 0/8570 22/4388
?/? c.1206C>T r.(=) p.(=) g.30069341C>T Copied from the Exome Variant Server NF2_000073 2/13004 1/8600 1/4404
?/? c.1257G>C r.(=) p.(=) g.30069392G>C Copied from the Exome Variant Server NF2_000074 1/13006 1/8600 0/4406
?/? c.1273C>T r.(=) p.(=) g.30069408C>T Copied from the Exome Variant Server NF2_000075 1/13006 1/8600 0/4406
?/? c.1311A>G r.(=) p.(=) g.30069446A>G Copied from the Exome Variant Server NF2_000076 1/13006 1/8600 0/4406
?/? c.1340+5G>A r.spl? p.? g.30069480G>A Copied from the Exome Variant Server NF2_000077 1/13006 1/8600 0/4406
?/? c.1340+8G>T r.(=) p.(=) g.30069483G>T Copied from the Exome Variant Server NF2_000078 8/13004 8/8600 0/4404
?/? c.1340+24C>T r.(=) p.(=) g.30069499C>T Copied from the Exome Variant Server NF2_000079 2/12998 2/8598 0/4400
?/? c.1340+29G>A r.(=) p.(=) g.30069504G>A Copied from the Exome Variant Server NF2_000080 22/12994 0/8594 22/4400
?/? c.1340+40C>T r.(=) p.(=) g.30069515C>T Copied from the Exome Variant Server NF2_000081 1/12972 0/8582 1/4390
?/? c.1385G>A r.(?) p.(Arg462His) g.30070869G>A Copied from the Exome Variant Server NF2_000082 1/12922 0/8540 1/4382
?/? c.1386C>T r.(=) p.(=) g.30070870C>T Copied from the Exome Variant Server NF2_000083 7/12922 0/8540 7/4382
?/? c.1387G>A r.(?) p.(Glu463Lys) g.30070871G>A Copied from the Exome Variant Server NF2_000084 9/12920 0/8540 9/4380
?/? c.1416C>T r.(=) p.(=) g.30070900C>T Copied from the Exome Variant Server NF2_000085 7/12922 0/8554 7/4368
?/? c.1446+5G>A r.spl? p.? g.30070935G>A Copied from the Exome Variant Server NF2_000086 1/12872 1/8516 0/4356
?/? c.1451T>C r.(?) p.(Met484Thr) g.30074189T>C Copied from the Exome Variant Server NF2_000087 9/13006 0/8600 9/4406
?/? c.1455C>T r.(=) p.(=) g.30074193C>T Copied from the Exome Variant Server NF2_000088 1/13006 0/8600 1/4406
?/? c.1459A>G r.(?) p.(Ile487Val) g.30074197A>G Copied from the Exome Variant Server NF2_000089 1/13006 1/8600 0/4406
?/? c.1470G>T r.(=) p.(=) g.30074208G>T Copied from the Exome Variant Server NF2_000090 1/13006 0/8600 1/4406
?/? c.1532A>T r.(?) p.(Asp511Val) g.30074270A>T Copied from the Exome Variant Server NF2_000091 1/13006 1/8600 0/4406
?/? c.1540A>G r.(?) p.(Met514Val) g.30074278A>G Copied from the Exome Variant Server NF2_000092 1/13006 1/8600 0/4406
?/? c.1574+35G>A r.(=) p.(=) g.30074347G>A Copied from the Exome Variant Server NF2_000093 1/13006 0/8600 1/4406
?/? c.1574+37G>A r.(=) p.(=) g.30074349G>A Copied from the Exome Variant Server NF2_000094 4/13006 0/8600 4/4406
?/? c.1575-44A>G r.(=) p.(=) g.30077384A>G Copied from the Exome Variant Server NF2_000095 3/13006 3/8600 0/4406
?/? c.1639G>A r.(?) p.(Glu547Lys) g.30077492G>A Copied from the Exome Variant Server NF2_000096 3/13006 3/8600 0/4406
?/? c.1737+21G>A r.(=) p.(=) g.30077611G>A Copied from the Exome Variant Server NF2_000097 1/13006 0/8600 1/4406
?/? c.1737+1374A>G r.(=) p.(=) g.30078964A>G Copied from the Exome Variant Server NF2_000098 1/13006 1/8600 0/4406
?/? c.1737+1501G>A r.(=) p.(=) g.30079091G>A Copied from the Exome Variant Server NF2_000099 11/13006 0/8600 11/4406
?/? c.1737+1523C>T r.(=) p.(=) g.30079113C>T Copied from the Exome Variant Server NF2_000100 5/4566 4/3182 1/1384
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