All transcript variants in gene NNT

Information The variants shown are described using the NM_182977.2 transcript reference sequence.

161 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.-26T>C r.(=) p.(=) g.43609272T>C Copied from the Exome Variant Server NNT_000001 3184/13006 2901/8600 283/4406
?/? c.-23G>A r.(=) p.(=) g.43609275G>A Copied from the Exome Variant Server NNT_000002 10/13006 0/8600 10/4406
?/? c.-18T>C r.(=) p.(=) g.43609280T>C Copied from the Exome Variant Server NNT_000003 1/13006 1/8600 0/4406
?/? c.46C>T r.(=) p.(=) g.43609343C>T Copied from the Exome Variant Server NNT_000004 8776/13006 4907/8600 3869/4406
?/? c.48A>G r.(=) p.(=) g.43609345A>G Copied from the Exome Variant Server NNT_000005 1/13006 1/8600 0/4406
?/? c.57T>C r.(=) p.(=) g.43609354T>C Copied from the Exome Variant Server NNT_000006 1/13006 0/8600 1/4406
?/? c.58T>C r.(=) p.(=) g.43609355T>C Copied from the Exome Variant Server NNT_000007 1/13006 1/8600 0/4406
?/? c.72G>A r.(=) p.(=) g.43609369G>A Copied from the Exome Variant Server NNT_000008 1/13006 1/8600 0/4406
?/? c.80G>A r.(?) p.(Arg27His) g.43609377G>A Copied from the Exome Variant Server NNT_000009 68/13006 3/8600 65/4406
?/? c.96T>G r.(?) p.(Phe32Leu) g.43609393T>G Copied from the Exome Variant Server NNT_000010 1/13006 1/8600 0/4406
?/? c.124C>T r.(=) p.(=) g.43609421C>T Copied from the Exome Variant Server NNT_000011 1/13006 0/8600 1/4406
?/? c.129G>C r.(?) p.(Trp43Cys) g.43609426G>C Copied from the Exome Variant Server NNT_000012 5/13006 5/8600 0/4406
?/? c.138G>A r.(=) p.(=) g.43609435G>A Copied from the Exome Variant Server NNT_000013 1/13006 1/8600 0/4406
?/? c.141T>G r.(=) p.(=) g.43609438T>G Copied from the Exome Variant Server NNT_000014 2/13006 0/8600 2/4406
?/? c.144A>G r.(=) p.(=) g.43609441A>G Copied from the Exome Variant Server NNT_000015 5/13006 5/8600 0/4406
?/? c.151+22T>C r.(=) p.(=) g.43609470T>C Copied from the Exome Variant Server NNT_000016 1/13006 1/8600 0/4406
?/? c.151+50_151+51insT r.(=) p.(=) g.43609498_43609499insT Copied from the Exome Variant Server NNT_000017 3/12510 3/8252 0/4258
?/? c.152-27del r.(=) p.(=) g.43612983del Copied from the Exome Variant Server NNT_000018 480/12488 381/8250 99/4238
?/? c.188A>G r.(?) p.(Lys63Arg) g.43613046A>G Copied from the Exome Variant Server NNT_000019 405/13006 361/8600 44/4406
?/? c.265G>A r.(?) p.(Val89Ile) g.43613123G>A Copied from the Exome Variant Server NNT_000020 1/13006 1/8600 0/4406
?/? c.305C>T r.(?) p.(Ser102Leu) g.43613163C>T Copied from the Exome Variant Server NNT_000021 1/13006 0/8600 1/4406
?/? c.320G>C r.(?) p.(Arg107Thr) g.43613178G>C Copied from the Exome Variant Server NNT_000022 1/13006 0/8600 1/4406
?/? c.382-22T>A r.(=) p.(=) g.43615928T>A Copied from the Exome Variant Server NNT_000023 5/12946 0/8590 5/4356
?/? c.450G>A r.(=) p.(=) g.43616018G>A Copied from the Exome Variant Server NNT_000024 1/13006 1/8600 0/4406
?/? c.480T>C r.(=) p.(=) g.43616048T>C Copied from the Exome Variant Server NNT_000025 3/13006 0/8600 3/4406
?/? c.523C>A r.(?) p.(Leu175Met) g.43616091C>A Copied from the Exome Variant Server NNT_000026 11/13006 10/8600 1/4406
?/? c.552A>G r.(=) p.(=) g.43616120A>G Copied from the Exome Variant Server NNT_000027 1/13006 1/8600 0/4406
?/? c.587C>G r.(?) p.(Ala196Gly) g.43616155C>G Copied from the Exome Variant Server NNT_000028 1/13006 1/8600 0/4406
?/? c.597G>A r.(=) p.(=) g.43616165G>A Copied from the Exome Variant Server NNT_000029 2/13006 1/8600 1/4406
?/? c.599+33C>T r.(=) p.(=) g.43616200C>T Copied from the Exome Variant Server NNT_000030 3/13006 2/8600 1/4406
?/? c.599+34G>A r.(=) p.(=) g.43616201G>A Copied from the Exome Variant Server NNT_000031 1/13006 1/8600 0/4406
?/? c.599+47A>G r.(=) p.(=) g.43616214A>G Copied from the Exome Variant Server NNT_000033 1/13006 1/8600 0/4406
?/? c.600-32_600-29del r.(=) p.(=) g.43619102_43619105del Copied from the Exome Variant Server NNT_000035 89/10150 61/6954 28/3196
?/? c.600-32_600-29dup r.(=) p.(=) g.43619102_43619105dup Copied from the Exome Variant Server NNT_000037 76/10150 11/6954 65/3196
?/? c.687+43_687+47del r.(=) p.(=) g.43619264_43619268del Copied from the Exome Variant Server NNT_000039 5/12520 5/8254 0/4266
?/? c.688-22C>T r.(=) p.(=) g.43624112C>T Copied from the Exome Variant Server NNT_000041 2/13006 0/8600 2/4406
?/? c.743C>G r.(?) p.(Ser248Trp) g.43624189C>G Copied from the Exome Variant Server NNT_000043 1/13006 1/8600 0/4406
?/? c.776+43T>G r.(=) p.(=) g.43624265T>G Copied from the Exome Variant Server NNT_000032 1/13006 0/8600 1/4406
?/? c.777-51C>G r.(=) p.(=) g.43628251C>G Copied from the Exome Variant Server NNT_000034 16/13000 15/8600 1/4400
?/? c.788T>C r.(?) p.(Leu263Ser) g.43628313T>C Copied from the Exome Variant Server NNT_000036 1/13006 0/8600 1/4406
?/? c.790G>A r.(?) p.(Glu264Lys) g.43628315G>A Copied from the Exome Variant Server NNT_000038 2/13006 0/8600 2/4406
?/? c.826G>A r.(?) p.(Val276Met) g.43628351G>A Copied from the Exome Variant Server NNT_000040 1/13006 0/8600 1/4406
?/? c.837G>A r.(=) p.(=) g.43628362G>A Copied from the Exome Variant Server NNT_000042 2/13006 0/8600 2/4406
?/? c.871G>C r.(?) p.(Glu291Gln) g.43628396G>C Copied from the Exome Variant Server NNT_000044 1/13006 1/8600 0/4406
?/? c.916C>G r.(?) p.(Gln306Glu) g.43628441C>G Copied from the Exome Variant Server NNT_000045 1/13006 1/8600 0/4406
?/? c.964+40A>C r.(=) p.(=) g.43628529A>C Copied from the Exome Variant Server NNT_000046 1/13006 1/8600 0/4406
?/? c.964+44del r.(=) p.(=) g.43628533del Copied from the Exome Variant Server NNT_000048 394/12512 325/8250 69/4262
?/? c.964+44dup r.(=) p.(=) g.43628533dup Copied from the Exome Variant Server NNT_000047 63/12512 45/8250 18/4262
?/? c.964+53del r.(=) p.(=) g.43628542del Copied from the Exome Variant Server NNT_000049 30/12502 17/8248 13/4254
?/? c.989A>G r.(?) p.(Asn330Ser) g.43644318A>G Copied from the Exome Variant Server NNT_000050 7/13006 0/8600 7/4406
?/? c.1017A>C r.(?) p.(Glu339Asp) g.43644346A>C Copied from the Exome Variant Server NNT_000051 1/13006 0/8600 1/4406
?/? c.1084C>G r.(?) p.(Leu362Val) g.43644413C>G Copied from the Exome Variant Server NNT_000052 1/13006 0/8600 1/4406
?/? c.1093C>T r.(?) p.(His365Tyr) g.43644422C>T Copied from the Exome Variant Server NNT_000053 1/13006 1/8600 0/4406
?/? c.1098+15G>A r.(=) p.(=) g.43644442G>A Copied from the Exome Variant Server NNT_000054 397/13006 357/8600 40/4406
?/? c.1098+17T>C r.(=) p.(=) g.43644444T>C Copied from the Exome Variant Server NNT_000055 129/13006 4/8600 125/4406
?/? c.1099-18A>C r.(=) p.(=) g.43644695A>C Copied from the Exome Variant Server NNT_000056 1/13006 1/8600 0/4406
?/? c.1099-9T>A r.(=) p.(=) g.43644704T>A Copied from the Exome Variant Server NNT_000057 1/13006 1/8600 0/4406
?/? c.1253C>T r.(?) p.(Thr418Met) g.43644867C>T Copied from the Exome Variant Server NNT_000058 1/13006 1/8600 0/4406
?/? c.1264G>A r.(?) p.(Val422Ile) g.43644878G>A Copied from the Exome Variant Server NNT_000059 1/13006 0/8600 1/4406
?/? c.1280T>C r.(?) p.(Val427Ala) g.43644894T>C Copied from the Exome Variant Server NNT_000060 1/13006 1/8600 0/4406
?/? c.1290+10G>C r.(=) p.(=) g.43644914G>C Copied from the Exome Variant Server NNT_000061 1/13006 1/8600 0/4406
?/? c.1290+47T>C r.(=) p.(=) g.43644951T>C Copied from the Exome Variant Server NNT_000062 5/12978 0/8588 5/4390
?/? c.1291-24G>A r.(=) p.(=) g.43645435G>A Copied from the Exome Variant Server NNT_000063 3/13002 1/8600 2/4402
?/? c.1295G>A r.(?) p.(Gly432Asp) g.43645463G>A Copied from the Exome Variant Server NNT_000064 1/13006 0/8600 1/4406
?/? c.1322C>T r.(?) p.(Pro441Leu) g.43645490C>T Copied from the Exome Variant Server NNT_000065 1/13006 1/8600 0/4406
?/? c.1340G>A r.(?) p.(Gly447Asp) g.43645508G>A Copied from the Exome Variant Server NNT_000066 1/13006 1/8600 0/4406
?/? c.1358A>C r.(?) p.(Lys453Thr) g.43645526A>C Copied from the Exome Variant Server NNT_000067 1/13006 1/8600 0/4406
?/? c.1377A>G r.(=) p.(=) g.43645545A>G Copied from the Exome Variant Server NNT_000068 5/13006 5/8600 0/4406
?/? c.1383A>G r.(=) p.(=) g.43645551A>G Copied from the Exome Variant Server NNT_000069 1/13006 0/8600 1/4406
?/? c.1424C>T r.(?) p.(Thr475Met) g.43645592C>T Copied from the Exome Variant Server NNT_000070 9/13006 0/8600 9/4406
?/? c.1444+52_1444+53del r.(=) p.(=) g.43645664_43645665del Copied from the Exome Variant Server NNT_000071 726/10878 512/7298 214/3580
?/? c.1444+52_1444+53dup r.(=) p.(=) g.43645664_43645665dup Copied from the Exome Variant Server NNT_000072 361/10878 253/7298 108/3580
?/? c.1445-32G>A r.(=) p.(=) g.43649217G>A Copied from the Exome Variant Server NNT_000073 1/13006 1/8600 0/4406
?/? c.1445-29C>G r.(=) p.(=) g.43649220C>G Copied from the Exome Variant Server NNT_000074 3/13006 0/8600 3/4406
?/? c.1445-23C>T r.(=) p.(=) g.43649226C>T Copied from the Exome Variant Server NNT_000075 1/13006 0/8600 1/4406
?/? c.1445-15A>G r.(=) p.(=) g.43649234A>G Copied from the Exome Variant Server NNT_000076 1/13006 0/8600 1/4406
?/? c.1500G>A r.(=) p.(=) g.43649304G>A Copied from the Exome Variant Server NNT_000077 1/13006 0/8600 1/4406
?/? c.1545C>T r.(=) p.(=) g.43649349C>T Copied from the Exome Variant Server NNT_000078 9/13006 0/8600 9/4406
?/? c.1602C>T r.(=) p.(=) g.43649406C>T Copied from the Exome Variant Server NNT_000079 2/13006 1/8600 1/4406
?/? c.1606+38C>T r.(=) p.(=) g.43649448C>T Copied from the Exome Variant Server NNT_000080 1/13006 1/8600 0/4406
?/? c.1607-38C>G r.(=) p.(=) g.43650541C>G Copied from the Exome Variant Server NNT_000081 1/13006 1/8600 0/4406
?/? c.1717+4T>C r.spl? p.? g.43650693T>C Copied from the Exome Variant Server NNT_000082 1/13006 1/8600 0/4406
?/? c.1717+46T>C r.(=) p.(=) g.43650735T>C Copied from the Exome Variant Server NNT_000084 943/13006 298/8600 645/4406
?/? c.1759C>T r.(?) p.(Arg587Cys) g.43651882C>T Copied from the Exome Variant Server NNT_000086 3/13006 0/8600 3/4406
?/? c.1765A>T r.(?) p.(Thr589Ser) g.43651888A>T Copied from the Exome Variant Server NNT_000088 1/13006 0/8600 1/4406
?/? c.1771C>T r.(?) p.(Pro591Ser) g.43651894C>T Copied from the Exome Variant Server NNT_000090 1/13006 1/8600 0/4406
?/? c.1812C>A r.(=) p.(=) g.43651935C>A Copied from the Exome Variant Server NNT_000092 1/13006 1/8600 0/4406
?/? c.1817T>C r.(?) p.(Val606Ala) g.43651940T>C Copied from the Exome Variant Server NNT_000083 1/13006 1/8600 0/4406
?/? c.1863+9C>T r.(=) p.(=) g.43651995C>T Copied from the Exome Variant Server NNT_000085 2/13006 1/8600 1/4406
?/? c.1864-5A>T r.spl? p.? g.43653115A>T Copied from the Exome Variant Server NNT_000087 5/13006 4/8600 1/4406
?/? c.1880C>T r.(?) p.(Ser627Leu) g.43653136C>T Copied from the Exome Variant Server NNT_000089 2/13006 0/8600 2/4406
?/? c.1897G>A r.(?) p.(Gly633Ser) g.43653153G>A Copied from the Exome Variant Server NNT_000091 1/13006 0/8600 1/4406
?/? c.1944T>C r.(=) p.(=) g.43653200T>C Copied from the Exome Variant Server NNT_000093 1/13006 1/8600 0/4406
?/? c.1955T>C r.(?) p.(Met652Thr) g.43653211T>C Copied from the Exome Variant Server NNT_000094 1/13006 0/8600 1/4406
?/? c.1987C>T r.(?) p.(Leu663Phe) g.43653243C>T Copied from the Exome Variant Server NNT_000095 398/13006 358/8600 40/4406
?/? c.1989C>T r.(=) p.(=) g.43653245C>T Copied from the Exome Variant Server NNT_000096 2/13006 2/8600 0/4406
?/? c.1990G>A r.(?) p.(Gly664Arg) g.43653246G>A Copied from the Exome Variant Server NNT_000097 1/13006 1/8600 0/4406
?/? c.1998A>G r.(=) p.(=) g.43653254A>G Copied from the Exome Variant Server NNT_000098 3/13006 3/8600 0/4406
?/? c.2059+9T>C r.(=) p.(=) g.43653324T>C Copied from the Exome Variant Server NNT_000099 7/13006 7/8600 0/4406
?/? c.2059+12T>C r.(=) p.(=) g.43653327T>C Copied from the Exome Variant Server NNT_000100 1/13006 1/8600 0/4406
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