All transcript variants in gene KLHL7

Information The variants shown are described using the NM_018846.4 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-818C>T r.(=) p.(=) g.23145620C>T Copied from the Exome Variant Server KLHL7_000001 1/12976 1/8588 0/4388
?/? c.-760G>A r.(=) p.(=) g.23145678G>A Copied from the Exome Variant Server KLHL7_000002 1/13004 0/8600 1/4404
?/? c.-689A>G r.(=) p.(=) g.23145749A>G Copied from the Exome Variant Server KLHL7_000003 1/13004 0/8600 1/4404
?/? c.-24-5814A>G r.(=) p.(=) g.23157582A>G Copied from the Exome Variant Server KLHL7_000004 205/13006 5/8600 200/4406
?/? c.-24-5794T>C r.(=) p.(=) g.23157602T>C Copied from the Exome Variant Server KLHL7_000005 1/13006 1/8600 0/4406
?/? c.-24-5791T>C r.(=) p.(=) g.23157605T>C Copied from the Exome Variant Server KLHL7_000006 4/13006 4/8600 0/4406
?/? c.-24-5788T>C r.(=) p.(=) g.23157608T>C Copied from the Exome Variant Server KLHL7_000007 1/13006 0/8600 1/4406
?/? c.-24-5781A>T r.(=) p.(=) g.23157615A>T Copied from the Exome Variant Server KLHL7_000008 4/13006 0/8600 4/4406
?/? c.-24-5778A>G r.(=) p.(=) g.23157618A>G Copied from the Exome Variant Server KLHL7_000009 1/13006 0/8600 1/4406
?/? c.-24-5765C>T r.(=) p.(=) g.23157631C>T Copied from the Exome Variant Server KLHL7_000010 235/13006 0/8600 235/4406
?/? c.-24-5764G>A r.(=) p.(=) g.23157632G>A Copied from the Exome Variant Server KLHL7_000011 1/13006 1/8600 0/4406
?/? c.-24-5756G>T r.(=) p.(=) g.23157640G>T Copied from the Exome Variant Server KLHL7_000012 6/4566 6/3182 0/1384
?/? c.-24-5756_-24-5755insT r.(=) p.(=) g.23157640_23157641insT Copied from the Exome Variant Server KLHL7_000013 1/12518 0/8254 1/4264
?/? c.-24-36G>T r.(=) p.(=) g.23163360G>T Copied from the Exome Variant Server KLHL7_000014 1/13004 1/8600 0/4404
?/? c.-22A>G r.(=) p.(=) g.23163398A>G Copied from the Exome Variant Server KLHL7_000015 8/13006 0/8600 8/4406
?/? c.-19G>A r.(=) p.(=) g.23163401G>A Copied from the Exome Variant Server KLHL7_000016 1/13006 1/8600 0/4406
?/? c.-4C>G r.(=) p.(=) g.23163416C>G Copied from the Exome Variant Server KLHL7_000017 4/13006 0/8600 4/4406
?/? c.79+39A>G r.(=) p.(=) g.23163537A>G Copied from the Exome Variant Server KLHL7_000018 1/13006 1/8600 0/4406
?/? c.80-31A>G r.(=) p.(=) g.23164276A>G Copied from the Exome Variant Server KLHL7_000019 1/13004 0/8598 1/4406
?/? c.173+3G>A r.spl? p.? g.23164403G>A Copied from the Exome Variant Server KLHL7_000020 1/13006 1/8600 0/4406
?/? c.173+40del r.(=) p.(=) g.23164440del Copied from the Exome Variant Server KLHL7_000021 2/12514 1/8252 1/4262
?/? c.173+43A>T r.(=) p.(=) g.23164443A>T Copied from the Exome Variant Server KLHL7_000023 14/13004 0/8598 14/4406
?/? c.174-35A>G r.(=) p.(=) g.23164632A>G Copied from the Exome Variant Server KLHL7_000025 1/13000 0/8600 1/4400
?/? c.208C>T r.(=) p.(=) g.23164701C>T Copied from the Exome Variant Server KLHL7_000027 5956/13000 3175/8598 2781/4402
?/? c.272A>G r.(?) p.(Glu91Gly) g.23164765A>G Copied from the Exome Variant Server KLHL7_000029 1/13004 1/8598 0/4406
?/? c.299-41A>T r.(=) p.(=) g.23180347A>T Copied from the Exome Variant Server KLHL7_000022 54/12992 0/8592 54/4400
?/? c.299-37A>C r.(=) p.(=) g.23180351A>C Copied from the Exome Variant Server KLHL7_000024 1/13002 0/8598 1/4404
?/? c.299-23_299-19del r.(=) p.(=) g.23180365_23180369del Copied from the Exome Variant Server KLHL7_000026 1/12516 1/8252 0/4264
?/? c.301A>T r.(?) p.(Ile101Leu) g.23180390A>T Copied from the Exome Variant Server KLHL7_000028 1/13006 0/8600 1/4406
?/? c.315G>A r.(=) p.(=) g.23180404G>A Copied from the Exome Variant Server KLHL7_000030 53/13006 0/8600 53/4406
?/? c.324A>G r.(=) p.(=) g.23180413A>G Copied from the Exome Variant Server KLHL7_000031 1/13006 1/8600 0/4406
?/? c.329G>T r.(?) p.(Cys110Phe) g.23180418G>T Copied from the Exome Variant Server KLHL7_000032 1/13006 0/8600 1/4406
?/? c.381A>G r.(=) p.(=) g.23180470A>G Copied from the Exome Variant Server KLHL7_000033 1/13006 1/8600 0/4406
?/? c.450T>A r.(=) p.(=) g.23180539T>A Copied from the Exome Variant Server KLHL7_000034 1/13006 0/8600 1/4406
?/? c.474G>A r.(=) p.(=) g.23180563G>A Copied from the Exome Variant Server KLHL7_000035 1/13006 0/8600 1/4406
?/? c.474+46A>G r.(=) p.(=) g.23180609A>G Copied from the Exome Variant Server KLHL7_000036 2/13004 2/8598 0/4406
?/? c.475-8C>G r.(=) p.(=) g.23183462C>G Copied from the Exome Variant Server KLHL7_000037 1/13006 1/8600 0/4406
?/? c.485C>T r.(?) p.(Ala162Val) g.23183480C>T Copied from the Exome Variant Server KLHL7_000038 2/13006 0/8600 2/4406
?/? c.594G>A r.(=) p.(=) g.23183589G>A Copied from the Exome Variant Server KLHL7_000039 4/13006 3/8600 1/4406
?/? c.649+5G>C r.spl? p.? g.23183649G>C Copied from the Exome Variant Server KLHL7_000041 2/13006 0/8600 2/4406
?/? c.650-50A>G r.(=) p.(=) g.23191636A>G Copied from the Exome Variant Server KLHL7_000043 5998/13006 3060/8600 2938/4406
?/? c.650-40G>A r.(=) p.(=) g.23191646G>A Copied from the Exome Variant Server KLHL7_000045 1/13006 0/8600 1/4406
?/? c.650-36G>A r.(=) p.(=) g.23191650G>A Copied from the Exome Variant Server KLHL7_000047 1/13006 1/8600 0/4406
?/? c.650-22G>A r.(=) p.(=) g.23191664G>A Copied from the Exome Variant Server KLHL7_000049 5998/13006 3060/8600 2938/4406
?/? c.650-5T>C r.spl? p.? g.23191681T>C Copied from the Exome Variant Server KLHL7_000051 1/13006 1/8600 0/4406
?/? c.665A>G r.(?) p.(His222Arg) g.23191701A>G Copied from the Exome Variant Server KLHL7_000053 1/13006 1/8600 0/4406
?/? c.676C>A r.(?) p.(Pro226Thr) g.23191712C>A Copied from the Exome Variant Server KLHL7_000055 1/13006 1/8600 0/4406
?/? c.762A>G r.(=) p.(=) g.23191798A>G Copied from the Exome Variant Server KLHL7_000057 1/13006 1/8600 0/4406
?/? c.792+30G>C r.(=) p.(=) g.23191858G>C Copied from the Exome Variant Server KLHL7_000059 1/13006 0/8600 1/4406
?/? c.793-44T>C r.(=) p.(=) g.23205273T>C Copied from the Exome Variant Server KLHL7_000061 1/12990 1/8592 0/4398
?/? c.793-2A>G r.spl? p.? g.23205315A>G Copied from the Exome Variant Server KLHL7_000040 1/13006 1/8600 0/4406
?/? c.810C>T r.(=) p.(=) g.23205334C>T Copied from the Exome Variant Server KLHL7_000042 4/13006 0/8600 4/4406
?/? c.963G>A r.(=) p.(=) g.23205487G>A Copied from the Exome Variant Server KLHL7_000044 1/13006 1/8600 0/4406
?/? c.978_979insCTTG r.(?) p.(Ala329Cysfs*26) g.23205502_23205503insCTTG Copied from the Exome Variant Server KLHL7_000046 1/12518 1/8254 0/4264
?/? c.1033+39T>C r.(=) p.(=) g.23205596T>C Copied from the Exome Variant Server KLHL7_000048 41/13004 0/8600 41/4404
?/? c.1105C>G r.(?) p.(Leu369Val) g.23207526C>G Copied from the Exome Variant Server KLHL7_000050 1/13006 1/8600 0/4406
?/? c.1142A>G r.(?) p.(Asn381Ser) g.23207563A>G Copied from the Exome Variant Server KLHL7_000052 1/13006 0/8600 1/4406
?/? c.1173A>G r.(=) p.(=) g.23207594A>G Copied from the Exome Variant Server KLHL7_000054 1/13006 1/8600 0/4406
?/? c.1207T>A r.(?) p.(Cys403Ser) g.23207628T>A Copied from the Exome Variant Server KLHL7_000056 1/13006 1/8600 0/4406
?/? c.1235+36T>C r.(=) p.(=) g.23207692T>C Copied from the Exome Variant Server KLHL7_000058 1/13006 0/8600 1/4406
?/? c.1235+44A>G r.(=) p.(=) g.23207700A>G Copied from the Exome Variant Server KLHL7_000060 1/13002 0/8598 1/4404
?/? c.1236-12T>C r.(=) p.(=) g.23212555T>C Copied from the Exome Variant Server KLHL7_000062 1/13006 1/8600 0/4406
?/? c.1252C>T r.(?) p.(Pro418Ser) g.23212583C>T Copied from the Exome Variant Server KLHL7_000063 1/13006 1/8600 0/4406
?/? c.1268G>C r.(?) p.(Arg423Thr) g.23212599G>C Copied from the Exome Variant Server KLHL7_000064 1/13006 1/8600 0/4406
?/? c.1278T>G r.(?) p.(His426Gln) g.23212609T>G Copied from the Exome Variant Server KLHL7_000065 1/13006 0/8600 1/4406
?/? c.1281G>C r.(=) p.(=) g.23212612G>C Copied from the Exome Variant Server KLHL7_000066 2/13006 0/8600 2/4406
?/? c.1296A>G r.(=) p.(=) g.23212627A>G Copied from the Exome Variant Server KLHL7_000067 61/13006 53/8600 8/4406
?/? c.1334-44G>T r.(=) p.(=) g.23213590G>T Copied from the Exome Variant Server KLHL7_000068 1/13006 1/8600 0/4406
?/? c.1334-37T>C r.(=) p.(=) g.23213597T>C Copied from the Exome Variant Server KLHL7_000069 2/13004 2/8598 0/4406
?/? c.1359C>T r.(=) p.(=) g.23213659C>T Copied from the Exome Variant Server KLHL7_000070 2/13006 1/8600 1/4406
?/? c.1374C>T r.(=) p.(=) g.23213674C>T Copied from the Exome Variant Server KLHL7_000071 1/13006 1/8600 0/4406
?/? c.1407G>A r.(=) p.(=) g.23213707G>A Copied from the Exome Variant Server KLHL7_000072 1/13006 1/8600 0/4406
?/? c.1434T>C r.(=) p.(=) g.23213734T>C Copied from the Exome Variant Server KLHL7_000073 297/13006 28/8600 269/4406
?/? c.1440T>C r.(=) p.(=) g.23213740T>C Copied from the Exome Variant Server KLHL7_000074 2/13006 2/8600 0/4406
?/? c.1442T>C r.(?) p.(Ile481Thr) g.23213742T>C Copied from the Exome Variant Server KLHL7_000075 1/13006 0/8600 1/4406
?/? c.1482A>G r.(=) p.(=) g.23213782A>G Copied from the Exome Variant Server KLHL7_000076 1/13006 1/8600 0/4406
?/? c.1494C>T r.(=) p.(=) g.23213794C>T Copied from the Exome Variant Server KLHL7_000077 2/13006 2/8600 0/4406
?/? c.1495G>A r.(?) p.(Glu499Lys) g.23213795G>A Copied from the Exome Variant Server KLHL7_000078 1/13006 1/8600 0/4406
?/? c.1506C>T r.(=) p.(=) g.23213806C>T Copied from the Exome Variant Server KLHL7_000079 4/13006 4/8600 0/4406
?/? c.1557A>G r.(=) p.(=) g.23213857A>G Copied from the Exome Variant Server KLHL7_000080 1/13006 1/8600 0/4406
?/? c.1606C>G r.(?) p.(Leu536Val) g.23213906C>G Copied from the Exome Variant Server KLHL7_000081 1/13006 0/8600 1/4406
?/? c.*7A>G r.(=) p.(=) g.23213924A>G Copied from the Exome Variant Server KLHL7_000082 153/13006 0/8600 153/4406
?/? c.*17_*27del r.(=) p.(=) g.23213934_23213944del Copied from the Exome Variant Server KLHL7_000083 53/12516 5/8254 48/4262
?/? c.*23A>C r.(=) p.(=) g.23213940A>C Copied from the Exome Variant Server KLHL7_000084 1/13002 0/8600 1/4402
?/? c.*24T>C r.(=) p.(=) g.23213941T>C Copied from the Exome Variant Server KLHL7_000085 7/13002 0/8600 7/4402
Legend