All transcript variants in gene RBBP6

Information The variants shown are described using the NM_006910.4 transcript reference sequence.

237 entries on 3 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.-31C>A r.(=) p.(=) g.24551917C>A Copied from the Exome Variant Server RBBP6_000001 1/12994 1/8600 0/4394
?/? c.-11C>T r.(=) p.(=) g.24551937C>T Copied from the Exome Variant Server RBBP6_000002 1/12994 0/8600 1/4394
?/? c.36C>A r.(=) p.(=) g.24551983C>A Copied from the Exome Variant Server RBBP6_000003 12/12994 11/8600 1/4394
?/? c.120A>G r.(=) p.(=) g.24552067A>G Copied from the Exome Variant Server RBBP6_000004 1/12994 0/8600 1/4394
?/? c.166+10G>T r.(=) p.(=) g.24552123G>T Copied from the Exome Variant Server RBBP6_000005 1/12994 1/8600 0/4394
?/? c.166+26T>C r.(=) p.(=) g.24552139T>C Copied from the Exome Variant Server RBBP6_000006 1/12994 1/8600 0/4394
?/? c.166+45_166+48del r.(=) p.(=) g.24552158_24552161del Copied from the Exome Variant Server RBBP6_000007 20/12514 8/8250 12/4264
?/? c.167-49C>T r.(=) p.(=) g.24557435C>T Copied from the Exome Variant Server RBBP6_000008 2/12834 0/8486 2/4348
?/? c.266+36_266+37insT r.(=) p.(=) g.24557619_24557620insT Copied from the Exome Variant Server RBBP6_000009 3043/12244 1945/8100 1098/4144
?/? c.267-37_267-36insT r.(=) p.(=) g.24560229_24560230insT Copied from the Exome Variant Server RBBP6_000010 2/12502 2/8242 0/4260
?/? c.267-31T>C r.(=) p.(=) g.24560235T>C Copied from the Exome Variant Server RBBP6_000011 1/12984 1/8590 0/4394
?/? c.284C>T r.(?) p.(Ala95Val) g.24560283C>T Copied from the Exome Variant Server RBBP6_000012 1/12990 1/8596 0/4394
?/? c.285G>A r.(=) p.(=) g.24560284G>A Copied from the Exome Variant Server RBBP6_000013 1/12990 0/8596 1/4394
?/? c.304-73A>G r.(=) p.(=) g.24564761A>G Copied from the Exome Variant Server RBBP6_000014 1/4566 0/3182 1/1384
?/? c.318C>T r.(=) p.(=) g.24564848C>T Copied from the Exome Variant Server RBBP6_000015 6/12990 1/8596 5/4394
?/? c.320C>T r.(?) p.(Ala107Val) g.24564850C>T Copied from the Exome Variant Server RBBP6_000016 1/12990 0/8596 1/4394
?/? c.349-50G>A r.(=) p.(=) g.24566886G>A Copied from the Exome Variant Server RBBP6_000017 1/12992 1/8598 0/4394
?/? c.420T>C r.(=) p.(=) g.24567007T>C Copied from the Exome Variant Server RBBP6_000018 1/12994 1/8600 0/4394
?/? c.433A>G r.(?) p.(Ile145Val) g.24567020A>G Copied from the Exome Variant Server RBBP6_000019 1/12994 0/8600 1/4394
?/? c.437+10T>C r.(=) p.(=) g.24567034T>C Copied from the Exome Variant Server RBBP6_000020 17/12992 1/8600 16/4392
?/? c.437+29G>T r.(=) p.(=) g.24567053G>T Copied from the Exome Variant Server RBBP6_000021 1/12992 0/8600 1/4392
?/? c.437+32A>T r.(=) p.(=) g.24567056A>T Copied from the Exome Variant Server RBBP6_000022 1/12990 1/8600 0/4390
?/? c.437+46del r.(=) p.(=) g.24567070del Copied from the Exome Variant Server RBBP6_000023 29/12504 20/8246 9/4258
?/? c.438-48A>G r.(=) p.(=) g.24567094A>G Copied from the Exome Variant Server RBBP6_000024 2/12992 2/8598 0/4394
?/? c.438-19del r.(=) p.(=) g.24567123del Copied from the Exome Variant Server RBBP6_000025 36/12514 24/8252 12/4262
?/? c.438-17T>A r.(=) p.(=) g.24567125T>A Copied from the Exome Variant Server RBBP6_000026 1/12994 0/8600 1/4394
?/? c.438-8C>T r.(=) p.(=) g.24567134C>T Copied from the Exome Variant Server RBBP6_000027 1/12994 1/8600 0/4394
?/? c.480G>A r.(=) p.(=) g.24567184G>A Copied from the Exome Variant Server RBBP6_000028 11/12994 10/8600 1/4394
?/? c.504A>C r.(=) p.(=) g.24567208A>C Copied from the Exome Variant Server RBBP6_000029 67/12994 61/8600 6/4394
?/? c.534+21A>G r.(=) p.(=) g.24567259A>G Copied from the Exome Variant Server RBBP6_000030 1/12994 0/8600 1/4394
?/? c.534+26A>C r.(=) p.(=) g.24567264A>C Copied from the Exome Variant Server RBBP6_000031 1/12992 1/8598 0/4394
?/? c.535-23C>G r.(=) p.(=) g.24567606C>G Copied from the Exome Variant Server RBBP6_000032 1/12982 0/8590 1/4392
?/? c.594C>T r.(=) p.(=) g.24567688C>T Copied from the Exome Variant Server RBBP6_000033 2/12994 0/8600 2/4394
?/? c.657A>G r.(=) p.(=) g.24567751A>G Copied from the Exome Variant Server RBBP6_000034 6/12994 0/8600 6/4394
?/? c.674+34C>T r.(=) p.(=) g.24567802C>T Copied from the Exome Variant Server RBBP6_000035 1/12994 0/8600 1/4394
?/? c.674+39G>A r.(=) p.(=) g.24567807G>A Copied from the Exome Variant Server RBBP6_000036 1/12994 1/8600 0/4394
?/? c.675-29T>C r.(=) p.(=) g.24570797T>C Copied from the Exome Variant Server RBBP6_000037 2/12994 2/8600 0/4394
?/? c.675-20A>G r.(=) p.(=) g.24570806A>G Copied from the Exome Variant Server RBBP6_000038 1/12994 1/8600 0/4394
?/? c.693G>A r.(=) p.(=) g.24570844G>A Copied from the Exome Variant Server RBBP6_000039 502/12994 461/8600 41/4394
?/? c.732T>A r.(=) p.(=) g.24570883T>A Copied from the Exome Variant Server RBBP6_000040 1/12994 1/8600 0/4394
?/? c.848-48_848-47del r.(=) p.(=) g.24572885_24572886del Copied from the Exome Variant Server RBBP6_000041 3125/12518 1989/8254 1136/4264
?/? c.848-15A>C r.(=) p.(=) g.24572918A>C Copied from the Exome Variant Server RBBP6_000042 1/12992 0/8598 1/4394
?/? c.861A>C r.(=) p.(=) g.24572946A>C Copied from the Exome Variant Server RBBP6_000043 696/12994 10/8600 686/4394
?/? c.867G>T r.(=) p.(=) g.24572952G>T Copied from the Exome Variant Server RBBP6_000044 1/12994 1/8600 0/4394
?/? c.885A>G r.(=) p.(=) g.24572970A>G Copied from the Exome Variant Server RBBP6_000045 3/12994 3/8600 0/4394
?/? c.951+8T>A r.(=) p.(=) g.24573044T>A Copied from the Exome Variant Server RBBP6_000046 1/12994 1/8600 0/4394
?/? c.952-38A>G r.(=) p.(=) g.24573107A>G Copied from the Exome Variant Server RBBP6_000047 2/12994 2/8600 0/4394
?/? c.959A>G r.(?) p.(Asn320Ser) g.24573152A>G Copied from the Exome Variant Server RBBP6_000048 1/12994 0/8600 1/4394
?/? c.968A>G r.(?) p.(Lys323Arg) g.24573161A>G Copied from the Exome Variant Server RBBP6_000049 1/12994 0/8600 1/4394
?/? c.983A>T r.(?) p.(Tyr328Phe) g.24573176A>T Copied from the Exome Variant Server RBBP6_000050 1/12994 1/8600 0/4394
?/? c.999A>G r.(=) p.(=) g.24573192A>G Copied from the Exome Variant Server RBBP6_000051 6/12994 4/8600 2/4394
?/? c.1024C>T r.(?) p.(Pro342Ser) g.24573217C>T Copied from the Exome Variant Server RBBP6_000052 15/12994 0/8600 15/4394
?/? c.1086A>G r.(?) p.(Ile362Met) g.24573279A>G Copied from the Exome Variant Server RBBP6_000053 1/12994 0/8600 1/4394
?/? c.1087T>C r.(?) p.(Ser363Pro) g.24573280T>C Copied from the Exome Variant Server RBBP6_000054 5/12994 2/8600 3/4394
?/? c.1117G>T r.(?) p.(Val373Leu) g.24573310G>T Copied from the Exome Variant Server RBBP6_000055 1/12994 0/8600 1/4394
?/? c.1131A>G r.(=) p.(=) g.24573324A>G Copied from the Exome Variant Server RBBP6_000056 2/12994 2/8600 0/4394
?/? c.1144C>T r.(?) p.(Pro382Ser) g.24573337C>T Copied from the Exome Variant Server RBBP6_000057 4/12994 4/8600 0/4394
?/? c.1158A>G r.(=) p.(=) g.24573351A>G Copied from the Exome Variant Server RBBP6_000058 6/12994 0/8600 6/4394
?/? c.1175C>A r.(?) p.(Ser392Tyr) g.24573368C>A Copied from the Exome Variant Server RBBP6_000059 1/12994 0/8600 1/4394
?/? c.1206G>A r.(=) p.(=) g.24573399G>A Copied from the Exome Variant Server RBBP6_000060 2/12994 0/8600 2/4394
?/? c.1219G>A r.(?) p.(Ala407Thr) g.24573412G>A Copied from the Exome Variant Server RBBP6_000061 1/12994 0/8600 1/4394
?/? c.1234A>G r.(?) p.(Ile412Val) g.24573427A>G Copied from the Exome Variant Server RBBP6_000062 1/12994 1/8600 0/4394
?/? c.1252A>G r.(?) p.(Ile418Val) g.24573445A>G Copied from the Exome Variant Server RBBP6_000063 1/12994 0/8600 1/4394
?/? c.1289+22T>C r.(=) p.(=) g.24573504T>C Copied from the Exome Variant Server RBBP6_000064 1/12990 1/8596 0/4394
?/? c.1356A>G r.(=) p.(=) g.24574586A>G Copied from the Exome Variant Server RBBP6_000065 1/12942 0/8580 1/4362
?/? c.1367C>A r.(?) p.(Thr456Asn) g.24574597C>A Copied from the Exome Variant Server RBBP6_000066 23/12936 0/8578 23/4358
?/? c.1386+4A>G r.spl? p.? g.24574620A>G Copied from the Exome Variant Server RBBP6_000067 1/12940 0/8576 1/4364
?/? c.1386+30del r.(=) p.(=) g.24574646del Copied from the Exome Variant Server RBBP6_000068 3410/12380 2277/8210 1133/4170
?/? c.1387-44T>A r.(=) p.(=) g.24574700T>A Copied from the Exome Variant Server RBBP6_000069 1/12780 1/8536 0/4244
?/? c.1387-24G>T r.(=) p.(=) g.24574720G>T Copied from the Exome Variant Server RBBP6_000070 208/12990 1/8598 207/4392
?/? c.1443T>C r.(=) p.(=) g.24574800T>C Copied from the Exome Variant Server RBBP6_000071 1/12994 1/8600 0/4394
?/? c.1465+12C>G r.(=) p.(=) g.24574834C>G Copied from the Exome Variant Server RBBP6_000072 1/12994 1/8600 0/4394
?/? c.1465+24G>C r.(=) p.(=) g.24574846G>C Copied from the Exome Variant Server RBBP6_000073 6/12994 0/8600 6/4394
?/? c.1465+26C>T r.(=) p.(=) g.24574848C>T Copied from the Exome Variant Server RBBP6_000074 1/12994 0/8600 1/4394
?/? c.1466-27del r.(=) p.(=) g.24574904del Copied from the Exome Variant Server RBBP6_000075 69/12518 37/8254 32/4264
?/? c.1466-24A>G r.(=) p.(=) g.24574907A>G Copied from the Exome Variant Server RBBP6_000076 1/12994 1/8600 0/4394
?/? c.1466-14T>C r.(=) p.(=) g.24574917T>C Copied from the Exome Variant Server RBBP6_000077 1/12994 0/8600 1/4394
?/? c.1481A>G r.(?) p.(Asn494Ser) g.24574946A>G Copied from the Exome Variant Server RBBP6_000078 1/12994 1/8600 0/4394
?/? c.1489C>T r.(?) p.(Arg497Cys) g.24574954C>T Copied from the Exome Variant Server RBBP6_000079 1/12994 1/8600 0/4394
?/? c.1495G>A r.(?) p.(Gly499Ser) g.24574960G>A Copied from the Exome Variant Server RBBP6_000080 6/12994 0/8600 6/4394
?/? c.1520+18A>G r.(=) p.(=) g.24575003A>G Copied from the Exome Variant Server RBBP6_000081 1/12994 0/8600 1/4394
?/? c.1521-21A>G r.(=) p.(=) g.24576097A>G Copied from the Exome Variant Server RBBP6_000082 1/12994 0/8600 1/4394
?/? c.1521-6A>G r.(=) p.(=) g.24576112A>G Copied from the Exome Variant Server RBBP6_000083 292/12994 0/8600 292/4394
?/? c.1530A>G r.(=) p.(=) g.24576127A>G Copied from the Exome Variant Server RBBP6_000084 2/12994 0/8600 2/4394
?/? c.1575G>A r.(=) p.(=) g.24576172G>A Copied from the Exome Variant Server RBBP6_000085 1/12994 0/8600 1/4394
?/? c.1589+16A>G r.(=) p.(=) g.24576202A>G Copied from the Exome Variant Server RBBP6_000086 120/12990 4/8598 116/4392
?/? c.1589+21G>T r.(=) p.(=) g.24576207G>T Copied from the Exome Variant Server RBBP6_000087 3/12990 3/8598 0/4392
?/? c.1590-41del r.(=) p.(=) g.24578423del Copied from the Exome Variant Server RBBP6_000088 1/12506 0/8248 1/4258
?/? c.1590-6T>C r.(=) p.(=) g.24578458T>C Copied from the Exome Variant Server RBBP6_000089 7931/12994 4315/8600 3616/4394
?/? c.1600C>T r.(?) p.(Arg534Cys) g.24578474C>T Copied from the Exome Variant Server RBBP6_000090 1/12994 0/8600 1/4394
?/? c.1617C>T r.(=) p.(=) g.24578491C>T Copied from the Exome Variant Server RBBP6_000091 1/12994 0/8600 1/4394
?/? c.1728G>C r.(=) p.(=) g.24578602G>C Copied from the Exome Variant Server RBBP6_000092 1/12994 1/8600 0/4394
?/? c.1778C>T r.(?) p.(Pro593Leu) g.24578652C>T Copied from the Exome Variant Server RBBP6_000093 1/12994 1/8600 0/4394
?/? c.1782C>T r.(=) p.(=) g.24578656C>T Copied from the Exome Variant Server RBBP6_000094 1/12994 0/8600 1/4394
?/? c.1938A>G r.(=) p.(=) g.24578812A>G Copied from the Exome Variant Server RBBP6_000095 2/12994 1/8600 1/4394
?/? c.1952+43T>C r.(=) p.(=) g.24578869T>C Copied from the Exome Variant Server RBBP6_000096 1/12964 0/8592 1/4372
?/? c.1966T>A r.(?) p.(Ser656Thr) g.24579126T>A Copied from the Exome Variant Server RBBP6_000097 1/12994 1/8600 0/4394
?/? c.2054+19T>G r.(=) p.(=) g.24579233T>G Copied from the Exome Variant Server RBBP6_000098 2/12994 2/8600 0/4394
?/? c.2054+42del r.(=) p.(=) g.24579256del Copied from the Exome Variant Server RBBP6_000099 1/12512 1/8254 0/4258
?/? c.2055-43A>G r.(=) p.(=) g.24580023A>G Copied from the Exome Variant Server RBBP6_000100 2/12934 1/8560 1/4374
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