All transcript variants in gene BBX

Information The variants shown are described using the NM_020235.5 transcript reference sequence.

150 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.-9-25_-9-24insTC r.(=) p.(=) g.107429274_107429275insTC Copied from the Exome Variant Server BBX_000001 8/12520 7/8254 1/4266
?/? c.-5C>T r.(=) p.(=) g.107429303C>T Copied from the Exome Variant Server BBX_000002 1/13006 1/8600 0/4406
?/? c.1A>C r.? p.? g.107429308A>C Copied from the Exome Variant Server BBX_000003 1/13006 0/8600 1/4406
?/? c.8G>A r.(?) p.(Gly3Asp) g.107429315G>A Copied from the Exome Variant Server BBX_000004 2/13006 0/8600 2/4406
?/? c.14A>G r.(?) p.(Asn5Ser) g.107429321A>G Copied from the Exome Variant Server BBX_000005 260/13006 0/8600 260/4406
?/? c.120_128del r.(?) p.(Glu44_Glu46del) g.107429427_107429435del Copied from the Exome Variant Server BBX_000006 2/12520 2/8254 0/4266
?/? c.162+10A>G r.(=) p.(=) g.107429479A>G Copied from the Exome Variant Server BBX_000007 1/13006 0/8600 1/4406
?/? c.162+21A>G r.(=) p.(=) g.107429490A>G Copied from the Exome Variant Server BBX_000008 1/13004 0/8598 1/4406
?/? c.162+32G>A r.(=) p.(=) g.107429501G>A Copied from the Exome Variant Server BBX_000009 4/12990 0/8590 4/4400
?/? c.177G>A r.(=) p.(=) g.107435468G>A Copied from the Exome Variant Server BBX_000010 1/13006 1/8600 0/4406
?/? c.179C>T r.(?) p.(Ala60Val) g.107435470C>T Copied from the Exome Variant Server BBX_000011 25/13006 0/8600 25/4406
?/? c.180C>T r.(=) p.(=) g.107435471C>T Copied from the Exome Variant Server BBX_000012 23/13006 22/8600 1/4406
?/? c.181G>A r.(?) p.(Asp61Asn) g.107435472G>A Copied from the Exome Variant Server BBX_000013 1/13006 1/8600 0/4406
?/? c.182A>G r.(?) p.(Asp61Gly) g.107435473A>G Copied from the Exome Variant Server BBX_000014 1/13006 1/8600 0/4406
?/? c.192G>C r.(?) p.(Glu64Asp) g.107435483G>C Copied from the Exome Variant Server BBX_000015 2/13006 1/8600 1/4406
?/? c.224C>T r.(?) p.(Ser75Leu) g.107435515C>T Copied from the Exome Variant Server BBX_000016 1/13006 1/8600 0/4406
?/? c.236G>A r.(?) p.(Arg79Gln) g.107435527G>A Copied from the Exome Variant Server BBX_000017 3/13006 3/8600 0/4406
?/? c.241C>T r.(?) p.(Arg81Trp) g.107435532C>T Copied from the Exome Variant Server BBX_000018 39/13006 33/8600 6/4406
?/? c.277C>T r.(?) p.(Arg93Cys) g.107435568C>T Copied from the Exome Variant Server BBX_000020 1/13006 1/8600 0/4406
?/? c.287C>G r.(?) p.(Ser96Cys) g.107435578C>G Copied from the Exome Variant Server BBX_000022 1/13006 0/8600 1/4406
?/? c.296G>A r.(?) p.(Arg99His) g.107435587G>A Copied from the Exome Variant Server BBX_000024 1/13006 1/8600 0/4406
?/? c.306C>T r.(=) p.(=) g.107435597C>T Copied from the Exome Variant Server BBX_000026 1/13006 0/8600 1/4406
?/? c.314T>G r.(?) p.(Leu105Arg) g.107435605T>G Copied from the Exome Variant Server BBX_000028 26/13006 0/8600 26/4406
?/? c.336G>A r.(=) p.(=) g.107435627G>A Copied from the Exome Variant Server BBX_000030 1/13006 1/8600 0/4406
?/? c.353G>A r.(?) p.(Trp118*) g.107435644G>A Copied from the Exome Variant Server BBX_000032 1/13006 1/8600 0/4406
?/? c.368C>T r.(?) p.(Pro123Leu) g.107435659C>T Copied from the Exome Variant Server BBX_000019 1/13006 0/8600 1/4406
?/? c.405+14A>G r.(=) p.(=) g.107435710A>G Copied from the Exome Variant Server BBX_000021 2/13006 2/8600 0/4406
?/? c.405+32T>C r.(=) p.(=) g.107435728T>C Copied from the Exome Variant Server BBX_000023 91/13006 0/8600 91/4406
?/? c.406-45A>G r.(=) p.(=) g.107447567A>G Copied from the Exome Variant Server BBX_000025 11/13006 1/8600 10/4406
?/? c.406-16G>T r.(=) p.(=) g.107447596G>T Copied from the Exome Variant Server BBX_000027 16/13006 15/8600 1/4406
?/? c.406-8A>G r.(=) p.(=) g.107447604A>G Copied from the Exome Variant Server BBX_000029 1/13006 1/8600 0/4406
?/? c.425A>G r.(?) p.(Lys142Arg) g.107447631A>G Copied from the Exome Variant Server BBX_000031 1/13006 0/8600 1/4406
?/? c.447G>T r.(?) p.(Trp149Cys) g.107447653G>T Copied from the Exome Variant Server BBX_000033 1/13006 1/8600 0/4406
?/? c.494A>G r.(?) p.(Asn165Ser) g.107447700A>G Copied from the Exome Variant Server BBX_000034 1/13006 1/8600 0/4406
?/? c.496C>A r.(?) p.(Pro166Thr) g.107447702C>A Copied from the Exome Variant Server BBX_000035 1/13006 1/8600 0/4406
?/? c.556A>G r.(?) p.(Lys186Glu) g.107447762A>G Copied from the Exome Variant Server BBX_000036 1/13006 1/8600 0/4406
?/? c.601+42G>A r.(=) p.(=) g.107447849G>A Copied from the Exome Variant Server BBX_000037 2/13006 2/8600 0/4406
?/? c.601+50T>A r.(=) p.(=) g.107447857T>A Copied from the Exome Variant Server BBX_000038 4357/13006 3372/8600 985/4406
?/? c.602-46T>C r.(=) p.(=) g.107451757T>C Copied from the Exome Variant Server BBX_000039 260/13006 4/8600 256/4406
?/? c.602-32A>G r.(=) p.(=) g.107451771A>G Copied from the Exome Variant Server BBX_000040 99/13004 92/8598 7/4406
?/? c.642T>A r.(=) p.(=) g.107451843T>A Copied from the Exome Variant Server BBX_000041 4/13006 4/8600 0/4406
?/? c.666A>C r.(=) p.(=) g.107451867A>C Copied from the Exome Variant Server BBX_000042 1/13006 1/8600 0/4406
?/? c.669+21C>T r.(=) p.(=) g.107451891C>T Copied from the Exome Variant Server BBX_000043 1/13006 1/8600 0/4406
?/? c.669+37C>T r.(=) p.(=) g.107451907C>T Copied from the Exome Variant Server BBX_000044 12951/13006 8599/8600 4352/4406
?/? c.669+43G>A r.(=) p.(=) g.107451913G>A Copied from the Exome Variant Server BBX_000045 1/13006 0/8600 1/4406
?/? c.670-20del r.(=) p.(=) g.107463457del Copied from the Exome Variant Server BBX_000046 4348/12520 3243/8254 1105/4266
?/? c.704A>G r.(?) p.(Glu235Gly) g.107463511A>G Copied from the Exome Variant Server BBX_000047 1/13006 0/8600 1/4406
?/? c.719G>T r.(?) p.(Arg240Leu) g.107463526G>T Copied from the Exome Variant Server BBX_000048 2/13006 2/8600 0/4406
?/? c.748G>A r.(?) p.(Glu250Lys) g.107463555G>A Copied from the Exome Variant Server BBX_000049 1/13006 1/8600 0/4406
?/? c.750+8A>G r.(=) p.(=) g.107463565A>G Copied from the Exome Variant Server BBX_000050 1/13006 1/8600 0/4406
?/? c.751-32T>C r.(=) p.(=) g.107466780T>C Copied from the Exome Variant Server BBX_000051 1/13004 1/8600 0/4404
?/? c.751-31T>C r.(=) p.(=) g.107466781T>C Copied from the Exome Variant Server BBX_000052 2/13004 2/8600 0/4404
?/? c.779C>T r.(?) p.(Ala260Val) g.107466840C>T Copied from the Exome Variant Server BBX_000053 16/13006 15/8600 1/4406
?/? c.825+4T>C r.spl? p.? g.107466890T>C Copied from the Exome Variant Server BBX_000054 2/13006 0/8600 2/4406
?/? c.825+6G>A r.(=) p.(=) g.107466892G>A Copied from the Exome Variant Server BBX_000055 1/13006 0/8600 1/4406
?/? c.826-46del r.(=) p.(=) g.107474399del Copied from the Exome Variant Server BBX_000056 17/12520 1/8254 16/4266
?/? c.826-45del r.(=) p.(=) g.107474400del Copied from the Exome Variant Server BBX_000057 17/12520 1/8254 16/4266
?/? c.831T>C r.(=) p.(=) g.107474450T>C Copied from the Exome Variant Server BBX_000058 4/13006 4/8600 0/4406
?/? c.835A>G r.(?) p.(Asn279Asp) g.107474454A>G Copied from the Exome Variant Server BBX_000059 1/13006 1/8600 0/4406
?/? c.843G>A r.(=) p.(=) g.107474462G>A Copied from the Exome Variant Server BBX_000060 1/13006 0/8600 1/4406
?/? c.906+1G>A r.spl? p.? g.107474526G>A Copied from the Exome Variant Server BBX_000061 1/13006 1/8600 0/4406
?/? c.906+9C>G r.(=) p.(=) g.107474534C>G Copied from the Exome Variant Server BBX_000062 1/13006 0/8600 1/4406
?/? c.906+31T>A r.(=) p.(=) g.107474556T>A Copied from the Exome Variant Server BBX_000063 6/13006 3/8600 3/4406
?/? c.906+61_906+64del r.(=) p.(=) g.107474586_107474589del Copied from the Exome Variant Server BBX_000064 245/12518 0/8252 245/4266
?/? c.907-33C>T r.(=) p.(=) g.107491442C>T Copied from the Exome Variant Server BBX_000065 2/12906 2/8564 0/4342
?/? c.1026G>A r.(?) p.(Met342Ile) g.107491594G>A Copied from the Exome Variant Server BBX_000066 2/12952 0/8580 2/4372
?/? c.1041A>G r.(=) p.(=) g.107491609A>G Copied from the Exome Variant Server BBX_000067 1/12956 0/8578 1/4378
?/? c.1077G>A r.(=) p.(=) g.107491645G>A Copied from the Exome Variant Server BBX_000069 1/12976 0/8590 1/4386
?/? c.1137T>A r.(?) p.(Asp379Glu) g.107491705T>A Copied from the Exome Variant Server BBX_000071 1/13000 1/8596 0/4404
?/? c.1181A>G r.(?) p.(Lys394Arg) g.107491749A>G Copied from the Exome Variant Server BBX_000073 1/13002 0/8596 1/4406
?/? c.1191_1193del r.(?) p.(Glu399del) g.107491759_107491761del Copied from the Exome Variant Server BBX_000076 1108/12516 978/8250 130/4266
?/? c.1204A>G r.(?) p.(Lys402Glu) g.107491772A>G Copied from the Exome Variant Server BBX_000078 1/13006 1/8600 0/4406
?/? c.1263T>A r.(?) p.(Asp421Glu) g.107491831T>A Copied from the Exome Variant Server BBX_000079 1/13006 0/8600 1/4406
?/? c.1324G>A r.(?) p.(Ala442Thr) g.107491892G>A Copied from the Exome Variant Server BBX_000081 93/13006 84/8600 9/4406
?/? c.1379A>G r.(?) p.(Asp460Gly) g.107491947A>G Copied from the Exome Variant Server BBX_000084 1/13004 1/8598 0/4406
?/? c.1437G>A r.(=) p.(=) g.107492005G>A Copied from the Exome Variant Server BBX_000068 1/13006 1/8600 0/4406
?/? c.1455C>T r.(=) p.(=) g.107492023C>T Copied from the Exome Variant Server BBX_000070 5/13006 5/8600 0/4406
?/? c.1456G>A r.(?) p.(Val486Ile) g.107492024G>A Copied from the Exome Variant Server BBX_000072 1/13006 1/8600 0/4406
?/? c.1469T>C r.(?) p.(Ile490Thr) g.107492037T>C Copied from the Exome Variant Server BBX_000074 1/13006 0/8600 1/4406
?/? c.1476C>T r.(=) p.(=) g.107492044C>T Copied from the Exome Variant Server BBX_000075 1/13006 1/8600 0/4406
?/? c.1515T>C r.(=) p.(=) g.107492083T>C Copied from the Exome Variant Server BBX_000077 5/13006 4/8600 1/4406
?/? c.1542C>T r.(=) p.(=) g.107492110C>T Copied from the Exome Variant Server BBX_000080 5/13006 0/8600 5/4406
?/? c.1605G>A r.(=) p.(=) g.107492173G>A Copied from the Exome Variant Server BBX_000082 1/13006 0/8600 1/4406
?/? c.1620G>A r.(=) p.(=) g.107492188G>A Copied from the Exome Variant Server BBX_000083 1/13006 1/8600 0/4406
?/? c.1659A>G r.(=) p.(=) g.107492227A>G Copied from the Exome Variant Server BBX_000085 1/13006 1/8600 0/4406
?/? c.1672A>G r.(?) p.(Ile558Val) g.107492240A>G Copied from the Exome Variant Server BBX_000086 1/13006 1/8600 0/4406
?/? c.1689C>T r.(=) p.(=) g.107492257C>T Copied from the Exome Variant Server BBX_000087 1/13006 0/8600 1/4406
?/? c.1691T>A r.(?) p.(Ile564Asn) g.107492259T>A Copied from the Exome Variant Server BBX_000088 5/13006 2/8600 3/4406
?/? c.1721C>A r.(?) p.(Ala574Glu) g.107492289C>A Copied from the Exome Variant Server BBX_000089 1/13006 0/8600 1/4406
?/? c.1726C>T r.(?) p.(Pro576Ser) g.107492294C>T Copied from the Exome Variant Server BBX_000090 26/13006 2/8600 24/4406
?/? c.1728A>G r.(=) p.(=) g.107492296A>G Copied from the Exome Variant Server BBX_000091 1/13006 1/8600 0/4406
?/? c.1774G>A r.(?) p.(Ala592Thr) g.107492342G>A Copied from the Exome Variant Server BBX_000092 1/13006 0/8600 1/4406
?/? c.1857T>G r.(=) p.(=) g.107492425T>G Copied from the Exome Variant Server BBX_000093 1/13006 1/8600 0/4406
?/? c.1915+45G>A r.(=) p.(=) g.107492528G>A Copied from the Exome Variant Server BBX_000094 2/12990 2/8592 0/4398
?/? c.1916-25C>A r.(=) p.(=) g.107493541C>A Copied from the Exome Variant Server BBX_000095 7/13006 0/8600 7/4406
?/? c.1916-22C>A r.(=) p.(=) g.107493544C>A Copied from the Exome Variant Server BBX_000096 1/13006 0/8600 1/4406
?/? c.1916-17C>T r.(=) p.(=) g.107493549C>T Copied from the Exome Variant Server BBX_000097 680/13006 9/8600 671/4406
?/? c.1958G>C r.(?) p.(Gly653Ala) g.107493608G>C Copied from the Exome Variant Server BBX_000098 1/13006 1/8600 0/4406
?/? c.1970A>G r.(?) p.(Glu657Gly) g.107493620A>G Copied from the Exome Variant Server BBX_000099 1/13006 0/8600 1/4406
?/? c.2016G>A r.(=) p.(=) g.107493666G>A Copied from the Exome Variant Server BBX_000100 1/13006 1/8600 0/4406
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