Genename Variants
NEB(NM_001271208,nebulin,8560aa) g.2:152466406G>A,c.12247C>T,p.R4083C
NEB(NM_001271208,nebulin,8560aa) g.2:152466337C>T,c.12316G>A,p.D4106N
NEB(NM_001271208,nebulin,8560aa) g.2:152448640T>C,c.14734A>G,p.N4912D
NEB(NM_001271208,nebulin,8560aa) g.2:152436012T>G,c.16544A>C,p.K5515T
NEB(NM_001271208,nebulin,8560aa) g.2:152435887T>C,c.16669A>G,p.I5557V
NEB(NM_001271208,nebulin,8560aa) g.2:152432811A>T,c.16762T>A,p.S5588T
NEB(NM_001271208,nebulin,8560aa) g.2:152427093T>A,c.17036A>T,p.D5679V
NEB(NM_001271208,nebulin,8560aa) g.2:152425820C>T,c.17497G>A,p.V5833I
NEB(NM_001271208,nebulin,8560aa) g.2:152424933T>A,c.17635-2A>T,p.5879Acceptor
NEB(NM_001271208,nebulin,8560aa) g.2:152424933_152424934insA,c.17635-2insT,p.5879Acceptorins
NEB(NM_001271208,nebulin,8560aa) g.2:152424885A>G,c.17681T>C,p.L5894P
NEB(NM_001271208,nebulin,8560aa) g.2:152423951C>T,c.17887G>A,p.V5963I
NEB(NM_001271208,nebulin,8560aa) g.2:152422076C>G,c.18305G>C,p.R6102T
NEB(NM_001271208,nebulin,8560aa) g.2:152420428G>A,c.18488C>T,p.A6163V
NEB(NM_001271208,nebulin,8560aa) g.2:152420386C>T,c.18530G>A,p.R6177H
NEB(NM_001271208,nebulin,8560aa) g.2:152420191G>C,c.18622C>G,p.L6208V
NEB(NM_001271208,nebulin,8560aa) g.2:152419216A>G,c.18800T>C,p.L6267P
NEB(NM_001271208,nebulin,8560aa) g.2:152419207C>T,c.18809G>A,p.R6270Q
NEB(NM_001271208,nebulin,8560aa) g.2:152419193G>C,c.18823C>G,p.Q6275E
NEB(NM_001271208,nebulin,8560aa) g.2:152418638C>T,c.18982G>A,p.D6328N
NEB(NM_001271208,nebulin,8560aa) g.2:152417125T>C,c.19295A>G,p.Q6432R
NEB(NM_001271208,nebulin,8560aa) g.2:152410418C>T,c.19550G>A,p.R6517H
NEB(NM_001271208,nebulin,8560aa) g.2:152409968C>T,c.19675G>A,p.V6559I
NEB(NM_001271208,nebulin,8560aa) g.2:152409271A>C,c.19751T>G,p.M6584R
NEB(NM_001271208,nebulin,8560aa) g.2:152404901G>A,c.20078C>T,p.T6693I
NEB(NM_001271208,nebulin,8560aa) g.2:152404890C>T,c.20089G>A,p.G6697R
NEB(NM_001271208,nebulin,8560aa) g.2:152404881G>T,c.20098C>A,p.L6700I
NEB(NM_001271208,nebulin,8560aa) g.2:152404218T>A,c.20192A>T,p.D6731V
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org