Unique variants in gene NBN

Information The variants shown are described using the NM_002485.4 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-15T>A r.(=) p.(=) g.90996804A>T Copied from the Exome Variant Server NBN_000136 1/12984 1/8590 0/4394
1 c.-12G>A r.(=) p.(=) g.90996801C>T Copied from the Exome Variant Server NBN_000135 1/12984 0/8592 1/4392
1 c.21C>T r.(=) p.(=) g.90996769G>A Copied from the Exome Variant Server NBN_000134 1/12986 1/8586 0/4400
1 c.37+5G>A r.spl? p.? g.90996748C>T Copied from the Exome Variant Server NBN_000133 89/13000 9/8598 80/4402
1 c.37+7G>A r.(=) p.(=) g.90996746C>T Copied from the Exome Variant Server NBN_000132 1/13000 1/8598 0/4402
1 c.37+10G>C r.(=) p.(=) g.90996743C>G Copied from the Exome Variant Server NBN_000131 3/12998 3/8596 0/4402
1 c.37+11A>G r.(=) p.(=) g.90996742T>C Copied from the Exome Variant Server NBN_000130 64/12998 0/8596 64/4402
1 c.37+23G>A r.(=) p.(=) g.90996730C>T Copied from the Exome Variant Server NBN_000129 3/13000 0/8596 3/4404
1 c.37+30A>G r.(=) p.(=) g.90996723T>C Copied from the Exome Variant Server NBN_000128 112/13000 1/8596 111/4404
1 c.37+37C>T r.(=) p.(=) g.90996716G>A Copied from the Exome Variant Server NBN_000127 1/13000 0/8596 1/4404
1 c.38-51A>C r.(=) p.(=) g.90995134T>G Copied from the Exome Variant Server NBN_000126 5/12998 0/8596 5/4402
1 c.38-31T>G r.(=) p.(=) g.90995114A>C Copied from the Exome Variant Server NBN_000125 2/13006 0/8600 2/4406
1 c.38-20_38-19insT r.(=) p.(=) g.90995102_90995103insA Copied from the Exome Variant Server NBN_000124 4/12514 1/8250 3/4264
1 c.64G>A r.(?) p.(Val22Ile) g.90995057C>T Copied from the Exome Variant Server NBN_000123 1/13006 1/8600 0/4406
1 c.102G>A r.(=) p.(=) g.90995019C>T Copied from the Exome Variant Server NBN_000122 4073/13006 2706/8600 1367/4406
1 c.115C>A r.(?) p.(Gln39Lys) g.90995006G>T Copied from the Exome Variant Server NBN_000121 1/13006 1/8600 0/4406
1 c.127C>T r.(?) p.(Arg43*) g.90994994G>A Copied from the Exome Variant Server NBN_000120 1/13006 1/8600 0/4406
1 c.171+27T>A r.(=) p.(=) g.90994923A>T Copied from the Exome Variant Server NBN_000119 1/13006 1/8600 0/4406
1 c.171+33G>C r.(=) p.(=) g.90994917C>G Copied from the Exome Variant Server NBN_000118 1/13006 0/8600 1/4406
1 c.172-43T>A r.(=) p.(=) g.90993794A>T Copied from the Exome Variant Server NBN_000117 1/12982 1/8588 0/4394
1 c.172-42A>C r.(=) p.(=) g.90993793T>G Copied from the Exome Variant Server NBN_000116 1/12982 1/8588 0/4394
1 c.172-17A>G r.(=) p.(=) g.90993768T>C Copied from the Exome Variant Server NBN_000115 1/13002 1/8598 0/4404
1 c.211_212insGA r.(?) p.(Asn71Argfs*22) g.90993711_90993712insTC Copied from the Exome Variant Server NBN_000114 1/12516 1/8252 0/4264
1 c.278C>T r.(?) p.(Ser93Leu) g.90993645G>A Copied from the Exome Variant Server NBN_000113 4/13006 4/8600 0/4406
1 c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T Copied from the Exome Variant Server NBN_000112 29/13006 22/8600 7/4406
1 c.320+51A>T r.(=) p.(=) g.90993552T>A Copied from the Exome Variant Server NBN_000111 1/12990 0/8596 1/4394
1 c.321-29G>A r.(=) p.(=) g.90993150C>T Copied from the Exome Variant Server NBN_000110 346/13004 10/8598 336/4406
1 c.321-23A>G r.(=) p.(=) g.90993144T>C Copied from the Exome Variant Server NBN_000109 1/13004 0/8598 1/4406
1 c.333G>A r.(=) p.(=) g.90993109C>T Copied from the Exome Variant Server NBN_000107 1/13006 1/8600 0/4406
1 c.381T>C r.(=) p.(=) g.90993061A>G Copied from the Exome Variant Server NBN_000105 47/13006 39/8600 8/4406
1 c.390A>G r.(=) p.(=) g.90993052T>C Copied from the Exome Variant Server NBN_000102 2/13006 2/8600 0/4406
1 c.393T>G r.(=) p.(=) g.90993049A>C Copied from the Exome Variant Server NBN_000101 1/13006 1/8600 0/4406
1 c.425A>G r.(?) p.(Asn142Ser) g.90993017T>C Copied from the Exome Variant Server NBN_000099 1/13006 1/8600 0/4406
1 c.426T>C r.(=) p.(=) g.90993016A>G Copied from the Exome Variant Server NBN_000097 2/13006 2/8600 0/4406
1 c.441C>T r.(=) p.(=) g.90993001G>A Copied from the Exome Variant Server NBN_000108 7/13006 0/8600 7/4406
1 c.456G>A r.(?) p.(Met152Ile) g.90992986C>T Copied from the Exome Variant Server NBN_000106 1/13006 1/8600 0/4406
1 c.480+20C>G r.(=) p.(=) g.90992942G>C Copied from the Exome Variant Server NBN_000104 1/13006 0/8600 1/4406
1 c.481-34G>A r.(=) p.(=) g.90990585C>T Copied from the Exome Variant Server NBN_000103 1/13000 0/8596 1/4404
1 c.481-30A>G r.(=) p.(=) g.90990581T>C Copied from the Exome Variant Server NBN_000100 1/13000 1/8596 0/4404
1 c.481-18_481-17del r.(=) p.(=) g.90990568_90990569del Copied from the Exome Variant Server NBN_000098 1/12516 1/8254 0/4262
1 c.505C>T r.(?) p.(Arg169Cys) g.90990527G>A Copied from the Exome Variant Server NBN_000096 1/13006 0/8600 1/4406
1 c.511A>G r.(?) p.(Ile171Val) g.90990521T>C Copied from the Exome Variant Server NBN_000095 16/13006 14/8600 2/4406
1 c.553G>C r.(?) p.(Glu185Gln) g.90990479C>G Copied from the Exome Variant Server NBN_000094 3727/13006 2697/8600 1030/4406
1 c.584+32T>C r.(=) p.(=) g.90990416A>G Copied from the Exome Variant Server NBN_000093 7/12996 0/8592 7/4404
1 c.585-43C>T r.(=) p.(=) g.90983561G>A Copied from the Exome Variant Server NBN_000092 2/12642 2/8450 0/4192
1 c.585-42_585-40del r.(=) p.(=) g.90983558_90983560del Copied from the Exome Variant Server NBN_000091 5/12178 0/8104 5/4074
1 c.628G>T r.(?) p.(Val210Phe) g.90983475C>A Copied from the Exome Variant Server NBN_000090 13/12992 12/8590 1/4402
1 c.633T>A r.(?) p.(Asp211Glu) g.90983470A>T Copied from the Exome Variant Server NBN_000089 1/12994 1/8592 0/4402
1 c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A Copied from the Exome Variant Server NBN_000088 32/12994 32/8592 0/4402
1 c.656A>G r.(?) p.(Lys219Arg) g.90983447T>C Copied from the Exome Variant Server NBN_000087 1/12996 0/8594 1/4402
1 c.657_661del r.(?) p.(Lys219Asnfs*16) g.90983442_90983446del Copied from the Exome Variant Server NBN_000086 181/12508 128/8248 53/4260
1 c.663C>T r.(=) p.(=) g.90983440G>A Copied from the Exome Variant Server NBN_000085 1/12996 1/8594 0/4402
1 c.702+23T>C r.(=) p.(=) g.90983378A>G Copied from the Exome Variant Server NBN_000084 1/12974 0/8576 1/4398
1 c.703-38_703-36del r.(=) p.(=) g.90982821_90982823del Copied from the Exome Variant Server NBN_000083 1/12468 0/8232 1/4236
1 c.703-29C>T r.(=) p.(=) g.90982814G>A Copied from the Exome Variant Server NBN_000082 109/12982 103/8586 6/4396
1 c.703-18G>A r.(=) p.(=) g.90982803C>T Copied from the Exome Variant Server NBN_000081 318/12998 277/8596 41/4402
1 c.783T>G r.(?) p.(Asn261Lys) g.90982705A>C Copied from the Exome Variant Server NBN_000080 1/13006 1/8600 0/4406
1 c.786C>A r.(?) p.(Phe262Leu) g.90982702G>T Copied from the Exome Variant Server NBN_000079 1/13006 0/8600 1/4406
1 c.788T>C r.(?) p.(Phe263Ser) g.90982700A>G Copied from the Exome Variant Server NBN_000078 8/13006 0/8600 8/4406
1 c.797C>T r.(?) p.(Pro266Leu) g.90982691G>A Copied from the Exome Variant Server NBN_000077 133/13006 0/8600 133/4406
1 c.798G>A r.(=) p.(=) g.90982690C>T Copied from the Exome Variant Server NBN_000076 1/13006 1/8600 0/4406
1 c.804G>A r.(=) p.(=) g.90982684C>T Copied from the Exome Variant Server NBN_000075 3/13006 1/8600 2/4406
1 c.819A>T r.(=) p.(=) g.90982669T>A Copied from the Exome Variant Server NBN_000074 1/13006 1/8600 0/4406
1 c.896+13T>G r.(=) p.(=) g.90982579A>C Copied from the Exome Variant Server NBN_000073 1/13006 1/8600 0/4406
1 c.896+27A>C r.(=) p.(=) g.90982565T>G Copied from the Exome Variant Server NBN_000072 195/13004 1/8598 194/4406
1 c.896+29_896+30insA r.(=) p.(=) g.90982562_90982563insT Copied from the Exome Variant Server NBN_000071 418/12512 4/8248 414/4264
1 c.896+36G>A r.(=) p.(=) g.90982556C>T Copied from the Exome Variant Server NBN_000070 321/12998 278/8596 43/4402
1 c.896+38A>G r.(=) p.(=) g.90982554T>C Copied from the Exome Variant Server NBN_000069 3/12998 3/8596 0/4402
1 c.897-42G>C r.(=) p.(=) g.90976777C>G Copied from the Exome Variant Server NBN_000068 102/12988 93/8590 9/4398
1 c.897-26A>G r.(=) p.(=) g.90976761T>C Copied from the Exome Variant Server NBN_000067 1/13000 1/8596 0/4404
1 c.930T>A r.(=) p.(=) g.90976702A>T Copied from the Exome Variant Server NBN_000066 1/13006 1/8600 0/4406
1 c.935T>C r.(?) p.(Leu312Ser) g.90976697A>G Copied from the Exome Variant Server NBN_000065 1/13006 0/8600 1/4406
1 c.936G>A r.(=) p.(=) g.90976696C>T Copied from the Exome Variant Server NBN_000064 1/13006 0/8600 1/4406
1 c.939G>A r.(=) p.(=) g.90976693C>T Copied from the Exome Variant Server NBN_000063 4/13006 0/8600 4/4406
1 c.994+11C>T r.(=) p.(=) g.90976627G>A Copied from the Exome Variant Server NBN_000062 1/13006 0/8600 1/4406
1 c.994+22T>C r.(=) p.(=) g.90976616A>G Copied from the Exome Variant Server NBN_000061 1/13006 0/8600 1/4406
1 c.995-21_995-18del r.(=) p.(=) g.90971100_90971103del Copied from the Exome Variant Server NBN_000060 1/12516 0/8252 1/4264
1 c.1089C>T r.(=) p.(=) g.90970988G>A Copied from the Exome Variant Server NBN_000059 3/13006 0/8600 3/4406
1 c.1091T>C r.(?) p.(Val364Ala) g.90970986A>G Copied from the Exome Variant Server NBN_000058 1/13006 1/8600 0/4406
1 c.1124+6G>T r.(=) p.(=) g.90970947C>A Copied from the Exome Variant Server NBN_000057 2/13006 0/8600 2/4406
1 c.1124+18C>T r.(=) p.(=) g.90970935G>A Copied from the Exome Variant Server NBN_000056 3700/13006 2696/8600 1004/4406
1 c.1124+19C>T r.(=) p.(=) g.90970934G>A Copied from the Exome Variant Server NBN_000055 134/13006 0/8600 134/4406
1 c.1124+20G>A r.(=) p.(=) g.90970933C>T Copied from the Exome Variant Server NBN_000054 3/13006 2/8600 1/4406
1 c.1124+39A>G r.(=) p.(=) g.90970914T>C Copied from the Exome Variant Server NBN_000053 2/13006 2/8600 0/4406
1 c.1125-47T>G r.(=) p.(=) g.90967830A>C Copied from the Exome Variant Server NBN_000052 2/12886 2/8566 0/4320
1 c.1154_1155del r.(?) p.(Lys385Serfs*27) g.90967753_90967754del Copied from the Exome Variant Server NBN_000051 1/12512 0/8250 1/4262
1 c.1197T>C r.(=) p.(=) g.90967711A>G Copied from the Exome Variant Server NBN_000050 6376/13004 3061/8600 3315/4404
1 c.1222A>G r.(?) p.(Lys408Glu) g.90967686T>C Copied from the Exome Variant Server NBN_000049 36/13006 0/8600 36/4406
1 c.1262T>C r.(?) p.(Leu421Ser) g.90967646A>G Copied from the Exome Variant Server NBN_000048 4/13006 3/8600 1/4406
1 c.1306T>C r.(=) p.(=) g.90967602A>G Copied from the Exome Variant Server NBN_000047 1/13006 1/8600 0/4406
1 c.1317A>G r.(?) p.(Ile439Met) g.90967591T>C Copied from the Exome Variant Server NBN_000046 25/13006 0/8600 25/4406
1 c.1343A>T r.(?) p.(Gln448Leu) g.90967565T>A Copied from the Exome Variant Server NBN_000045 1/13006 0/8600 1/4406
1 c.1354A>C r.(?) p.(Thr452Pro) g.90967554T>G Copied from the Exome Variant Server NBN_000044 15/13006 0/8600 15/4406
1 c.1382C>T r.(?) p.(Pro461Leu) g.90967526G>A Copied from the Exome Variant Server NBN_000043 2/13006 0/8600 2/4406
1 c.1397+41del r.(=) p.(=) g.90967470del Copied from the Exome Variant Server NBN_000042 80/12512 48/8248 32/4264
1 c.1397+41dup r.(=) p.(=) g.90967470dup Copied from the Exome Variant Server NBN_000041 239/12512 22/8248 217/4264
1 c.1397+45del r.(=) p.(=) g.90967466del Copied from the Exome Variant Server NBN_000040 586/12514 255/8250 331/4264
1 c.1397+45_1397+46del r.(=) p.(=) g.90967465_90967466del Copied from the Exome Variant Server NBN_000039 0/12514 0/8250 0/4264
1 c.1398-46G>A r.(=) p.(=) g.90965965C>T Copied from the Exome Variant Server NBN_000038 9/12744 0/8410 9/4334
1 c.1398-32G>C r.(=) p.(=) g.90965951C>G Copied from the Exome Variant Server NBN_000037 1/12830 1/8462 0/4368
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