Genename Variants
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37447445A>G,c.1663A>G,p.T555A
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37442591G>T,c.1630+1G>T,p.544Donor
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37442564T>C,c.1604T>C,p.I535T
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37440991C>T,c.1481C>T,p.P494L
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37438746T>G,c.1446T>G,p.F482L
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37438725C>G,c.1425C>G,p.N475K
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37438712T>C,c.1412T>C,p.I471T
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37433929G>T,c.1232G>T,p.R411M
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37431020G>A,c.1027G>A,p.A343T
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37430914T>G,c.921T>G,p.S307R
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37430903G>A,c.910G>A,p.E304K
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37430875C>G,c.882C>G,p.F294L
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37430859C>T,c.866C>T,p.A289V
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37430853A>G,c.860A>G,p.E287G
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37425564G>A,c.617G>A,p.R206Q
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37421199C>T,c.374C>T,p.T125M
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37419292G>T,c.328G>T,p.E110X
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37419218C>T,c.254C>T,p.T85M
ANKRD30A(NM_052997,ankyrin repeat domain 30A,1341aa) g.10:37414929C>T,c.46C>T,p.Q16X
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99342400C>T,c.874C>T,p.R292C
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99342085C>T,c.749C>T,p.P250L
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99338262C>T,c.437C>T,p.P146L
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99337626G>T,c.238G>T,p.G80W
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99337572G>A,c.184G>A,p.A62T
ANKRD2(NM_020349,ankyrin repeat domain 2 (stretch responsive muscle),360aa) g.10:99332519G>A,c.55G>A,p.E19K
ANKRD29(NM_173505,ankyrin repeat domain 29,301aa) g.18:21229138T>C,c.41A>G,p.N14S
ANKRD29(NM_173505,ankyrin repeat domain 29,301aa) g.18:21181236C>T,c.860G>A,p.R287H
ANKRD28(NM_001195098,ankyrin repeat domain 28,899aa) g.3:15762552A>G,c.314T>C,p.I105T
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