All transcript variants in gene NBN

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

117 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-37G>C r.(=) p.(=) g.90996826C>G - NBN_000022 - - - - Despoina Kalfakakou
./. - c.-30C>T r.(=) p.(=) g.90996819G>A - NBN_000021 - - - - Despoina Kalfakakou
./. - c.-30C>T r.(=) p.(=) g.90996819G>A - NBN_000021 - - - - Despoina Kalfakakou
./. - c.-4A>G r.(=) p.(=) g.90996793T>C - NBN_000046 - - - - Despoina Kalfakakou
./. - c.15G>C r.(=) p.(=) g.90996775C>G - NBN_000013 - - - - Despoina Kalfakakou
./. - c.27C>T r.(=) p.(=) g.90996763G>A - NBN_000023 - - - - Despoina Kalfakakou
./. - c.37+10G>C r.(=) p.(=) g.90996743C>G - NBN_000029 - - - - Despoina Kalfakakou
./. - c.37+10G>C r.(=) p.(=) g.90996743C>G - NBN_000029 - - - - Despoina Kalfakakou
./. - c.37+10G>C r.(=) p.(=) g.90996743C>G - NBN_000029 - - - - Despoina Kalfakakou
./. - c.37+10G>C r.(=) p.(=) g.90996743C>G - NBN_000029 - - - - Despoina Kalfakakou
./. - c.37+30A>G r.(=) p.(=) g.90996723T>C - NBN_000048 rs1805846 - - - Despoina Kalfakakou
./. - c.171+4T>C r.spl? p.? g.90994946A>G - NBN_000036 - - - - Despoina Kalfakakou
./. - c.171+4T>C r.spl? p.? g.90994946A>G - NBN_000036 - - - - Despoina Kalfakakou
./. - c.171+4T>C r.spl? p.? g.90994946A>G - NBN_000036 - - - - Despoina Kalfakakou
./. - c.171+4T>C r.spl? p.? g.90994946A>G - NBN_000036 - - - - Despoina Kalfakakou
./. - c.172-12C>G r.(=) p.(=) g.90993763G>C - NBN_000016 - - - - Despoina Kalfakakou
./. - c.172-12C>G r.(=) p.(=) g.90993763G>C - NBN_000016 - - - - Despoina Kalfakakou
./. - c.266G>A r.(?) p.(Arg89Gln) g.90993657C>T - NBN_000033 - - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) g.90993640C>T - NBN_000012 rs61753720 - - - Despoina Kalfakakou
./. - c.287G>T r.(?) p.(Gly96Val) g.90993636C>A - NBN_000026 - - - - Despoina Kalfakakou
./. - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - - - Despoina Kalfakakou
./. - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - - - Despoina Kalfakakou
./. - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - - - Despoina Kalfakakou
./. - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - - - Despoina Kalfakakou
./. - c.381T>C r.(=) p.(=) g.90993061A>G - NBN_000011 rs61754795 - - - Despoina Kalfakakou
./. - c.425A>G r.(?) p.(Asn142Ser) g.90993017T>C - NBN_000043 rs769414 - - - Despoina Kalfakakou
./. - c.425A>G r.(?) p.(Asn142Ser) g.90993017T>C - NBN_000043 rs769414 - - - Despoina Kalfakakou
./. - c.426T>C r.(=) p.(=) g.90993016A>G - NBN_000025 - - - - Despoina Kalfakakou
./. - c.456G>A r.(?) p.(Met152Ile) g.90992986C>T - NBN_000004 - - - - Despoina Kalfakakou
./. - c.481-44G>T r.(=) p.(=) g.90990595C>A - NBN_000047 - - - - Despoina Kalfakakou
./. - c.481-24A>G r.(=) p.(=) g.90990575T>C - NBN_000051 - - - - Despoina Kalfakakou
./. - c.505C>T r.(?) p.(Arg169Cys) g.90990527G>A - NBN_000010 - - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.511A>G r.(?) p.(Ile171Val) g.90990521T>C - NBN_000003 rs61754966 - - - Despoina Kalfakakou
./. - c.584+7T>A - - g.90990441A>T - NBN_000052 - - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.643C>T r.(?) p.(Arg215Trp) g.90983460G>A - NBN_000017 rs34767364 - - - Despoina Kalfakakou
./. - c.657_661del r.(?) p.(Lys219Asnfs*16) g.90983442_90983446del - NBN_000002 - - - - Despoina Kalfakakou
./. - c.657_661del r.(?) p.(Lys219Asnfs*16) g.90983442_90983446del - NBN_000002 - - - - Despoina Kalfakakou
./. - c.657_661del r.(?) p.(Lys219Asnfs*16) g.90983442_90983446del - NBN_000002 - - - - Despoina Kalfakakou
./. - c.702+51A>T - - g.90983350T>A - NBN_000044 - - - - Despoina Kalfakakou
./. - c.702+51A>T r.(=) p.(=) g.90983350T>A - NBN_000044 - - - - Despoina Kalfakakou
./. - c.819A>T r.(=) p.(=) g.90982669T>A - NBN_000039 - - - - Despoina Kalfakakou
./. - c.819A>T r.(=) p.(=) g.90982669T>A - NBN_000039 - - - - Despoina Kalfakakou
./. - c.896+38A>G r.(=) p.(=) g.90982554T>C - NBN_000042 - - - - Despoina Kalfakakou
./. - c.896+38A>G r.(=) p.(=) g.90982554T>C - NBN_000042 - - - - Despoina Kalfakakou
./. - c.897-50A>G r.(=) p.(=) g.90976785T>C - NBN_000035 - - - - Despoina Kalfakakou
./. - c.897-50A>G r.(=) p.(=) g.90976785T>C - NBN_000035 - - - - Despoina Kalfakakou
./. - c.897-50A>G r.(=) p.(=) g.90976785T>C - NBN_000035 - - - - Despoina Kalfakakou
./. - c.897-35T>A r.(=) p.(=) g.90976770A>T - NBN_000050 - - - - Despoina Kalfakakou
./. - c.899A>G r.(?) p.(Gln300Arg) g.90976733T>C - NBN_000028 - - - - Despoina Kalfakakou
./. - c.938C>T r.(?) p.(Ala313Val) g.90976694G>A - NBN_000045 - - - - Despoina Kalfakakou
./. - c.994+36C>T r.(=) p.(=) g.90976602G>A - NBN_000030 - - - - Despoina Kalfakakou
./. - c.995-36G>T r.(=) p.(=) g.90971118C>A - NBN_000009 - - - - Despoina Kalfakakou
./. - c.1124+11_1124+13del r.(=) p.(=) g.90970940_90970942del - NBN_000027 - - - - Despoina Kalfakakou
./. - c.1124+11_1124+13del r.(=) p.(=) g.90970940_90970942del - NBN_000027 - - - - Despoina Kalfakakou
./. - c.1124+39A>G r.(=) p.(=) g.90970914T>C - NBN_000049 - - - - Despoina Kalfakakou
./. - c.1125-41A>G r.(=) p.(=) g.90967824T>C - NBN_000024 - - - - Despoina Kalfakakou
./. - c.1281A>G r.(=) p.(=) g.90967627T>C - NBN_000032 - - - - Despoina Kalfakakou
./. - c.1306T>C r.(=) p.(=) g.90967602A>G - NBN_000034 - - - - Despoina Kalfakakou
./. - c.1314T>C r.(=) p.(=) g.90967594A>G - NBN_000041 - - - - Despoina Kalfakakou
./. - c.1387A>G r.(?) p.(Thr463Ala) g.90967521T>C - NBN_000019 - - - - Despoina Kalfakakou
./. - c.1465C>T r.(?) p.(Leu489Phe) g.90965852G>A - NBN_000020 - - - - Despoina Kalfakakou
./. - c.1589C>G r.(?) p.(Ser530Cys) g.90965728G>C - NBN_000001 - - - - Despoina Kalfakakou
./. - c.1690G>A r.(?) p.(Glu564Lys) g.90965627C>T - NBN_000038 rs72550742 - - - Despoina Kalfakakou
./. - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 - - - - Despoina Kalfakakou
./. - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 - - - - Despoina Kalfakakou
./. - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 - - - - Despoina Kalfakakou
./. - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 - - - - Despoina Kalfakakou
./. - c.1720T>A r.(?) p.(Leu574Ile) g.90965597A>T - NBN_000008 - - - - Despoina Kalfakakou
./. - c.1754A>G r.(?) p.(Glu585Gly) g.90965563T>C - NBN_000031 - - - - Despoina Kalfakakou
./. - c.1754A>G r.(?) p.(Glu585Gly) g.90965563T>C - NBN_000031 - - - - Despoina Kalfakakou
./. - c.1915-24C>T r.(=) p.(=) g.90958547G>A - NBN_000007 - - - - Despoina Kalfakakou
./. - c.1915-24C>T r.(=) p.(=) g.90958547G>A - NBN_000007 - - - - Despoina Kalfakakou
./. - c.1915-24C>T r.(=) p.(=) g.90958547G>A - NBN_000007 - - - - Despoina Kalfakakou
./. - c.1915-22A>G r.(=) p.(=) g.90958545T>C - NBN_000037 - - - - Despoina Kalfakakou
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