根据突变情况来查它对应的基因组位置

Jimmy

现在一个突变的表现方式太多太多了！~
介绍这个神器：http://bioinformatics.mdanderson.org/transvarweb/
下面所有的突变情况，都可以回溯到基因组！！！

Task:        Reverse Annotation: Protein
Reference Genome:        GRCh37/hg19
Annotation Database:        RefSeq
Identifier Examples:        
DHODH:p.G152R
NP_006266.2:p.G240Afs*50
NP_006209:p.E545K
AATK:p.P1331_A1332insTP
AADACL4:p.W263_I267delWRDAI
ABCC3:p.Y556_V557delinsRRR
A1BG:p.G132fs*2

Task:        Reverse Annotation: cDNA
Reference Genome:        GRCh37/hg19
Annotation Database:        CCDS
Identifier Examples:        

PIK3CA:c.1633G>A
A1CF:c.508_509delinsTT
ACIN1:c.1930_1931insAT
A4GNT:c.694_696delTTG