Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA p.Met122ArgfsTer20 (p.M122Rfs*20)
(
ENST00000714058.1,
ENST00000714055.1,
ENST00000302262.8,
ENST00000390015.7,
ENST00000570803.6,
ENST00000714062.1,
ENST00000714057.1,
ENST00000714054.1,
ENST00000577106.6 )
GAA p.Glu176ArgfsTer45 (p.E176Rfs*45) ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1 )
GAA p.Asn177ProfsTer11 (p.N177Pfs*11) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6 )
GAA p.Val351CysfsTer41 (p.V351Cfs*41) ( ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Glu471ProfsTer5 (p.E471Pfs*5) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Tyr609Ter (p.Y609*) ( ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1 )
GAA p.Asn675del (p.N675del) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA p.His714ThrfsTer50 (p.H714Tfs*50) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Lys849ArgfsTer38 (p.K849Rfs*38) ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA p.Met122ArgfsTer20 (p.M122Rfs*20) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu176ArgfsTer45 (p.E176Rfs*45) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asn177ProfsTer11 (p.N177Pfs*11) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Val351CysfsTer41 (p.V351Cfs*41) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu471ProfsTer5 (p.E471Pfs*5) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Tyr609Ter (p.Y609*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asn675del (p.N675del) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.His714ThrfsTer50 (p.H714Tfs*50) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Lys849ArgfsTer38 (p.K849Rfs*38) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Tyr256ArgfsTer6 (p.Y256Rfs*6) ( ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Trp376CysfsTer16 (p.W376Cfs*16) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6 )
GAA p.Tyr256ArgfsTer6 (p.Y256Rfs*6) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Trp376CysfsTer16 (p.W376Cfs*16) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA c.-32-13T>G ( ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.? (p.?) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Gln58Ter (p.Q58*) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1 )
GAA p.Cys103Gly (p.C103G) ( ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1 )
GAA p.Gln115Ter (p.Q115*) ( ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Arg190His (p.R190H) ( ENST00000390015.7, ENST00000302262.8, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg190Leu (p.R190L) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1 )
GAA p.Gly219Arg (p.G219R) ( ENST00000570803.6, ENST00000577106.6, ENST00000302262.8, ENST00000390015.7, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg224Trp (p.R224W) ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA p.Glu262Lys (p.E262K) ( ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Leu299Pro (p.L299P) ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1 )
GAA p.Leu299Arg (p.L299R) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Gly309Arg (p.G309R) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Gly335Glu (p.G335E) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Gln386Ter (p.Q386*) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Arg437Cys (p.R437C) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Lys479= (p.K479=) ( ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA c.1438-1G>C ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1 )
GAA c.1438-1G>T ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA p.Trp481Arg (p.W481R) ( ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1 )
GAA p.Asp489Asn (p.D489N) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Trp516Ter (p.W516*) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1 )
GAA p.Met519Thr (p.M519T) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Glu521Lys (p.E521K) ( ENST00000570803.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714062.1, ENST00000390015.7, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1 )
GAA p.Ser601Trp (p.S601W) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Gly615Arg (p.G615R) ( ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Asp645Asn (p.D645N) ( ENST00000577106.6, ENST00000714054.1, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Asp645His (p.D645H) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Asp645Glu (p.D645E) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1 )
GAA p.Asp645= (p.D645=) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Gly648Ser (p.G648S) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1 )
GAA p.Arg660His (p.R660H) ( ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Met671Thr (p.M671T) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6 )
GAA p.Met671Arg (p.M671R) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Arg672Trp (p.R672W) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000302262.8, ENST00000714058.1 )
GAA p.Arg702Cys (p.R702C) ( ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Arg702His (p.R702H) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6 )
GAA p.Arg702Leu (p.R702L) ( ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Arg725Trp (p.R725W) ( ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA p.Gln838Ter (p.Q838*) ( ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Arg854Ter (p.R854*) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Arg870Ter (p.R870*) ( ENST00000714058.1, ENST00000714055.1, ENST00000302262.8, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1 )
GAA c.2646+2T>A ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1 )
GAA c.-32-13T>G ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.? (p.?) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gln58Ter (p.Q58*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Cys103Gly (p.C103G) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gln115Ter (p.Q115*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg190His (p.R190H) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg190Leu (p.R190L) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly219Arg (p.G219R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg224Trp (p.R224W) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu262Lys (p.E262K) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Leu299Pro (p.L299P) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Leu299Arg (p.L299R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly309Arg (p.G309R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly335Glu (p.G335E) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gln386Ter (p.Q386*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg437Cys (p.R437C) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Lys479= (p.K479=) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA c.1438-1G>C ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA c.1438-1G>T ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Trp481Arg (p.W481R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp489Asn (p.D489N) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Trp516Ter (p.W516*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Met519Thr (p.M519T) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu521Lys (p.E521K) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Ser601Trp (p.S601W) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly615Arg (p.G615R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645Asn (p.D645N) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645His (p.D645H) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645Glu (p.D645E) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645= (p.D645=) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly648Ser (p.G648S) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg660His (p.R660H) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Met671Thr (p.M671T) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Met671Arg (p.M671R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg672Trp (p.R672W) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg702Cys (p.R702C) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg702His (p.R702H) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg702Leu (p.R702L) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg725Trp (p.R725W) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gln838Ter (p.Q838*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg854Ter (p.R854*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Arg870Ter (p.R870*) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA c.2646+2T>A ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Tyr609Ter (p.Y609*)
GAA p.Gln692GlyfsTer6 (p.Q692Gfs*6)
GAA p.Ala694GlyfsTer43 (p.A694Gfs*43)
GAA p.Tyr609Ter (p.Y609*)
GAA p.Gln692GlyfsTer6 (p.Q692Gfs*6)
GAA p.Ala694GlyfsTer43 (p.A694Gfs*43) - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.499337113635194
- Year of publication
- NA
Drugs