Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178590925T>ACA349479417TTN,TTN-AS1c.53096A>T (p.His17699Leu)
c.34181A>T (p.His11394Leu)
c.33980A>T (p.His11327Leu)
c.33605A>T (p.His11202Leu)
c.60800A>T (p.His20267Leu)
c.55877A>T (p.His18626Leu)
n.597-6671T>A
n.3189-214T>A
c.59897A>T (p.His19966Leu)
c.33791A>T (p.His11264Leu)
c.33650A>T (p.His11217Leu)
c.59693A>T (p.His19898Leu)
c.55091A>T (p.His18364Leu)
c.55088A>T (p.His18363Leu)
c.52130A>T (p.His17377Leu)
c.33746A>T (p.His11249Leu)
c.55241A>T (p.His18414Leu)
c.55238A>T (p.His18413Leu)
c.54671A>T (p.His18224Leu)
c.52013A>T (p.His17338Leu)
c.51932A>T (p.His17311Leu)
c.33695A>T (p.His11232Leu)
c.23549A>T (p.His7850Leu)
2g.178590925T>CCA349479418TTN,TTN-AS1c.53096A>G (p.His17699Arg)
c.34181A>G (p.His11394Arg)
c.33980A>G (p.His11327Arg)
c.33605A>G (p.His11202Arg)
c.60800A>G (p.His20267Arg)
c.55877A>G (p.His18626Arg)
n.597-6671T>C
n.3189-214T>C
c.59897A>G (p.His19966Arg)
c.33791A>G (p.His11264Arg)
c.33650A>G (p.His11217Arg)
c.59693A>G (p.His19898Arg)
c.55091A>G (p.His18364Arg)
c.55088A>G (p.His18363Arg)
c.52130A>G (p.His17377Arg)
c.33746A>G (p.His11249Arg)
c.55241A>G (p.His18414Arg)
c.55238A>G (p.His18413Arg)
c.54671A>G (p.His18224Arg)
c.52013A>G (p.His17338Arg)
c.51932A>G (p.His17311Arg)
c.33695A>G (p.His11232Arg)
c.23549A>G (p.His7850Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178590925T>GCA349479419TTN,TTN-AS1c.53096A>C (p.His17699Pro)
c.34181A>C (p.His11394Pro)
c.33980A>C (p.His11327Pro)
c.33605A>C (p.His11202Pro)
c.60800A>C (p.His20267Pro)
c.55877A>C (p.His18626Pro)
n.597-6671T>G
n.3189-214T>G
c.59897A>C (p.His19966Pro)
c.33791A>C (p.His11264Pro)
c.33650A>C (p.His11217Pro)
c.59693A>C (p.His19898Pro)
c.55091A>C (p.His18364Pro)
c.55088A>C (p.His18363Pro)
c.52130A>C (p.His17377Pro)
c.33746A>C (p.His11249Pro)
c.55241A>C (p.His18414Pro)
c.55238A>C (p.His18413Pro)
c.54671A>C (p.His18224Pro)
c.52013A>C (p.His17338Pro)
c.51932A>C (p.His17311Pro)
c.33695A>C (p.His11232Pro)
c.23549A>C (p.His7850Pro)
2g.178590925T=CA1310539666TTN,TTN-AS1c.53096A= (p.His17699=)
c.34181A= (p.His11394=)
c.33980A= (p.His11327=)
c.33605A= (p.His11202=)
c.60800A= (p.His20267=)
c.55877A= (p.His18626=)
n.597-6671T=
n.3189-214T=
c.59897A= (p.His19966=)
c.33791A= (p.His11264=)
c.33650A= (p.His11217=)
c.59693A= (p.His19898=)
c.55091A= (p.His18364=)
c.55088A= (p.His18363=)
c.52130A= (p.His17377=)
c.33746A= (p.His11249=)
c.55241A= (p.His18414=)
c.55238A= (p.His18413=)
c.54671A= (p.His18224=)
c.52013A= (p.His17338=)
c.51932A= (p.His17311=)
c.33695A= (p.His11232=)
c.23549A= (p.His7850=)
2g.178590926G>ACA349479421TTN,TTN-AS1c.53095C>T (p.His17699Tyr)
c.34180C>T (p.His11394Tyr)
c.33979C>T (p.His11327Tyr)
c.33604C>T (p.His11202Tyr)
c.60799C>T (p.His20267Tyr)
c.55876C>T (p.His18626Tyr)
n.597-6670G>A
n.3189-213G>A
c.59896C>T (p.His19966Tyr)
c.33790C>T (p.His11264Tyr)
c.33649C>T (p.His11217Tyr)
c.59692C>T (p.His19898Tyr)
c.55090C>T (p.His18364Tyr)
c.55087C>T (p.His18363Tyr)
c.52129C>T (p.His17377Tyr)
c.33745C>T (p.His11249Tyr)
c.55240C>T (p.His18414Tyr)
c.55237C>T (p.His18413Tyr)
c.54670C>T (p.His18224Tyr)
c.52012C>T (p.His17338Tyr)
c.51931C>T (p.His17311Tyr)
c.33694C>T (p.His11232Tyr)
c.23548C>T (p.His7850Tyr)
 gnomAD v4
2g.178590926G>CCA349479423TTN,TTN-AS1c.53095C>G (p.His17699Asp)
c.34180C>G (p.His11394Asp)
c.33979C>G (p.His11327Asp)
c.33604C>G (p.His11202Asp)
c.60799C>G (p.His20267Asp)
c.55876C>G (p.His18626Asp)
n.597-6670G>C
n.3189-213G>C
c.59896C>G (p.His19966Asp)
c.33790C>G (p.His11264Asp)
c.33649C>G (p.His11217Asp)
c.59692C>G (p.His19898Asp)
c.55090C>G (p.His18364Asp)
c.55087C>G (p.His18363Asp)
c.52129C>G (p.His17377Asp)
c.33745C>G (p.His11249Asp)
c.55240C>G (p.His18414Asp)
c.55237C>G (p.His18413Asp)
c.54670C>G (p.His18224Asp)
c.52012C>G (p.His17338Asp)
c.51931C>G (p.His17311Asp)
c.33694C>G (p.His11232Asp)
c.23548C>G (p.His7850Asp)
2g.178590926G>TCA349479420TTN,TTN-AS1c.53095C>A (p.His17699Asn)
c.34180C>A (p.His11394Asn)
c.33979C>A (p.His11327Asn)
c.33604C>A (p.His11202Asn)
c.60799C>A (p.His20267Asn)
c.55876C>A (p.His18626Asn)
n.597-6670G>T
n.3189-213G>T
c.59896C>A (p.His19966Asn)
c.33790C>A (p.His11264Asn)
c.33649C>A (p.His11217Asn)
c.59692C>A (p.His19898Asn)
c.55090C>A (p.His18364Asn)
c.55087C>A (p.His18363Asn)
c.52129C>A (p.His17377Asn)
c.33745C>A (p.His11249Asn)
c.55240C>A (p.His18414Asn)
c.55237C>A (p.His18413Asn)
c.54670C>A (p.His18224Asn)
c.52012C>A (p.His17338Asn)
c.51931C>A (p.His17311Asn)
c.33694C>A (p.His11232Asn)
c.23548C>A (p.His7850Asn)
2g.178590927C>ACA349479425TTN,TTN-AS1c.53094G>T (p.Lys17698Asn)
c.34179G>T (p.Lys11393Asn)
c.33978G>T (p.Lys11326Asn)
c.33603G>T (p.Lys11201Asn)
c.60798G>T (p.Lys20266Asn)
c.55875G>T (p.Lys18625Asn)
n.597-6669C>A
n.3189-212C>A
c.59895G>T (p.Lys19965Asn)
c.33789G>T (p.Lys11263Asn)
c.33648G>T (p.Lys11216Asn)
c.59691G>T (p.Lys19897Asn)
c.55089G>T (p.Lys18363Asn)
c.55086G>T (p.Lys18362Asn)
c.52128G>T (p.Lys17376Asn)
c.33744G>T (p.Lys11248Asn)
c.55239G>T (p.Lys18413Asn)
c.55236G>T (p.Lys18412Asn)
c.54669G>T (p.Lys18223Asn)
c.52011G>T (p.Lys17337Asn)
c.51930G>T (p.Lys17310Asn)
c.33693G>T (p.Lys11231Asn)
c.23547G>T (p.Lys7849Asn)
2g.178590927C>GCA349479428TTN,TTN-AS1c.53094G>C (p.Lys17698Asn)
c.34179G>C (p.Lys11393Asn)
c.33978G>C (p.Lys11326Asn)
c.33603G>C (p.Lys11201Asn)
c.60798G>C (p.Lys20266Asn)
c.55875G>C (p.Lys18625Asn)
n.597-6669C>G
n.3189-212C>G
c.59895G>C (p.Lys19965Asn)
c.33789G>C (p.Lys11263Asn)
c.33648G>C (p.Lys11216Asn)
c.59691G>C (p.Lys19897Asn)
c.55089G>C (p.Lys18363Asn)
c.55086G>C (p.Lys18362Asn)
c.52128G>C (p.Lys17376Asn)
c.33744G>C (p.Lys11248Asn)
c.55239G>C (p.Lys18413Asn)
c.55236G>C (p.Lys18412Asn)
c.54669G>C (p.Lys18223Asn)
c.52011G>C (p.Lys17337Asn)
c.51930G>C (p.Lys17310Asn)
c.33693G>C (p.Lys11231Asn)
c.23547G>C (p.Lys7849Asn)
2g.178590927C>TCA430266236TTN,TTN-AS1c.53094G>A (p.Lys17698=)
c.34179G>A (p.Lys11393=)
c.33978G>A (p.Lys11326=)
c.33603G>A (p.Lys11201=)
c.60798G>A (p.Lys20266=)
c.55875G>A (p.Lys18625=)
n.597-6669C>T
n.3189-212C>T
c.59895G>A (p.Lys19965=)
c.33789G>A (p.Lys11263=)
c.33648G>A (p.Lys11216=)
c.59691G>A (p.Lys19897=)
c.55089G>A (p.Lys18363=)
c.55086G>A (p.Lys18362=)
c.52128G>A (p.Lys17376=)
c.33744G>A (p.Lys11248=)
c.55239G>A (p.Lys18413=)
c.55236G>A (p.Lys18412=)
c.54669G>A (p.Lys18223=)
c.52011G>A (p.Lys17337=)
c.51930G>A (p.Lys17310=)
c.33693G>A (p.Lys11231=)
c.23547G>A (p.Lys7849=)
2g.178590928T>ACA349479431TTN,TTN-AS1c.53093A>T (p.Lys17698Met)
c.34178A>T (p.Lys11393Met)
c.33977A>T (p.Lys11326Met)
c.33602A>T (p.Lys11201Met)
c.60797A>T (p.Lys20266Met)
c.55874A>T (p.Lys18625Met)
n.597-6668T>A
n.3189-211T>A
c.59894A>T (p.Lys19965Met)
c.33788A>T (p.Lys11263Met)
c.33647A>T (p.Lys11216Met)
c.59690A>T (p.Lys19897Met)
c.55088A>T (p.Lys18363Met)
c.55085A>T (p.Lys18362Met)
c.52127A>T (p.Lys17376Met)
c.33743A>T (p.Lys11248Met)
c.55238A>T (p.Lys18413Met)
c.55235A>T (p.Lys18412Met)
c.54668A>T (p.Lys18223Met)
c.52010A>T (p.Lys17337Met)
c.51929A>T (p.Lys17310Met)
c.33692A>T (p.Lys11231Met)
c.23546A>T (p.Lys7849Met)
2g.178590928T>CCA349479432TTN,TTN-AS1c.53093A>G (p.Lys17698Arg)
c.34178A>G (p.Lys11393Arg)
c.33977A>G (p.Lys11326Arg)
c.33602A>G (p.Lys11201Arg)
c.60797A>G (p.Lys20266Arg)
c.55874A>G (p.Lys18625Arg)
n.597-6668T>C
n.3189-211T>C
c.59894A>G (p.Lys19965Arg)
c.33788A>G (p.Lys11263Arg)
c.33647A>G (p.Lys11216Arg)
c.59690A>G (p.Lys19897Arg)
c.55088A>G (p.Lys18363Arg)
c.55085A>G (p.Lys18362Arg)
c.52127A>G (p.Lys17376Arg)
c.33743A>G (p.Lys11248Arg)
c.55238A>G (p.Lys18413Arg)
c.55235A>G (p.Lys18412Arg)
c.54668A>G (p.Lys18223Arg)
c.52010A>G (p.Lys17337Arg)
c.51929A>G (p.Lys17310Arg)
c.33692A>G (p.Lys11231Arg)
c.23546A>G (p.Lys7849Arg)
2g.178590928T>GCA349479435TTN,TTN-AS1c.53093A>C (p.Lys17698Thr)
c.34178A>C (p.Lys11393Thr)
c.33977A>C (p.Lys11326Thr)
c.33602A>C (p.Lys11201Thr)
c.60797A>C (p.Lys20266Thr)
c.55874A>C (p.Lys18625Thr)
n.597-6668T>G
n.3189-211T>G
c.59894A>C (p.Lys19965Thr)
c.33788A>C (p.Lys11263Thr)
c.33647A>C (p.Lys11216Thr)
c.59690A>C (p.Lys19897Thr)
c.55088A>C (p.Lys18363Thr)
c.55085A>C (p.Lys18362Thr)
c.52127A>C (p.Lys17376Thr)
c.33743A>C (p.Lys11248Thr)
c.55238A>C (p.Lys18413Thr)
c.55235A>C (p.Lys18412Thr)
c.54668A>C (p.Lys18223Thr)
c.52010A>C (p.Lys17337Thr)
c.51929A>C (p.Lys17310Thr)
c.33692A>C (p.Lys11231Thr)
c.23546A>C (p.Lys7849Thr)
2g.178590929T>ACA349479447TTN,TTN-AS1c.53092A>T (p.Lys17698Ter)
c.34177A>T (p.Lys11393Ter)
c.33976A>T (p.Lys11326Ter)
c.33601A>T (p.Lys11201Ter)
c.60796A>T (p.Lys20266Ter)
c.55873A>T (p.Lys18625Ter)
n.597-6667T>A
n.3189-210T>A
c.59893A>T (p.Lys19965Ter)
c.33787A>T (p.Lys11263Ter)
c.33646A>T (p.Lys11216Ter)
c.59689A>T (p.Lys19897Ter)
c.55087A>T (p.Lys18363Ter)
c.55084A>T (p.Lys18362Ter)
c.52126A>T (p.Lys17376Ter)
c.33742A>T (p.Lys11248Ter)
c.55237A>T (p.Lys18413Ter)
c.55234A>T (p.Lys18412Ter)
c.54667A>T (p.Lys18223Ter)
c.52009A>T (p.Lys17337Ter)
c.51928A>T (p.Lys17310Ter)
c.33691A>T (p.Lys11231Ter)
c.23545A>T (p.Lys7849Ter)
2g.178590929T>CCA1992446TTN,TTN-AS1c.53092A>G (p.Lys17698Glu)
c.34177A>G (p.Lys11393Glu)
c.33976A>G (p.Lys11326Glu)
c.33601A>G (p.Lys11201Glu)
c.60796A>G (p.Lys20266Glu)
c.55873A>G (p.Lys18625Glu)
n.597-6667T>C
n.3189-210T>C
c.59893A>G (p.Lys19965Glu)
c.33787A>G (p.Lys11263Glu)
c.33646A>G (p.Lys11216Glu)
c.59689A>G (p.Lys19897Glu)
c.55087A>G (p.Lys18363Glu)
c.55084A>G (p.Lys18362Glu)
c.52126A>G (p.Lys17376Glu)
c.33742A>G (p.Lys11248Glu)
c.55237A>G (p.Lys18413Glu)
c.55234A>G (p.Lys18412Glu)
c.54667A>G (p.Lys18223Glu)
c.52009A>G (p.Lys17337Glu)
c.51928A>G (p.Lys17310Glu)
c.33691A>G (p.Lys11231Glu)
c.23545A>G (p.Lys7849Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590929T>GCA349479440TTN,TTN-AS1c.53092A>C (p.Lys17698Gln)
c.34177A>C (p.Lys11393Gln)
c.33976A>C (p.Lys11326Gln)
c.33601A>C (p.Lys11201Gln)
c.60796A>C (p.Lys20266Gln)
c.55873A>C (p.Lys18625Gln)
n.597-6667T>G
n.3189-210T>G
c.59893A>C (p.Lys19965Gln)
c.33787A>C (p.Lys11263Gln)
c.33646A>C (p.Lys11216Gln)
c.59689A>C (p.Lys19897Gln)
c.55087A>C (p.Lys18363Gln)
c.55084A>C (p.Lys18362Gln)
c.52126A>C (p.Lys17376Gln)
c.33742A>C (p.Lys11248Gln)
c.55237A>C (p.Lys18413Gln)
c.55234A>C (p.Lys18412Gln)
c.54667A>C (p.Lys18223Gln)
c.52009A>C (p.Lys17337Gln)
c.51928A>C (p.Lys17310Gln)
c.33691A>C (p.Lys11231Gln)
c.23545A>C (p.Lys7849Gln)
2g.178590929T=CA1310539667TTN,TTN-AS1c.53092A= (p.Lys17698=)
c.34177A= (p.Lys11393=)
c.33976A= (p.Lys11326=)
c.33601A= (p.Lys11201=)
c.60796A= (p.Lys20266=)
c.55873A= (p.Lys18625=)
n.597-6667T=
n.3189-210T=
c.59893A= (p.Lys19965=)
c.33787A= (p.Lys11263=)
c.33646A= (p.Lys11216=)
c.59689A= (p.Lys19897=)
c.55087A= (p.Lys18363=)
c.55084A= (p.Lys18362=)
c.52126A= (p.Lys17376=)
c.33742A= (p.Lys11248=)
c.55237A= (p.Lys18413=)
c.55234A= (p.Lys18412=)
c.54667A= (p.Lys18223=)
c.52009A= (p.Lys17337=)
c.51928A= (p.Lys17310=)
c.33691A= (p.Lys11231=)
c.23545A= (p.Lys7849=)
2g.178590930A>CCA430266245TTN,TTN-AS1c.53091T>G (p.Ala17697=)
c.34176T>G (p.Ala11392=)
c.33975T>G (p.Ala11325=)
c.33600T>G (p.Ala11200=)
c.60795T>G (p.Ala20265=)
c.55872T>G (p.Ala18624=)
n.597-6666A>C
n.3189-209A>C
c.59892T>G (p.Ala19964=)
c.33786T>G (p.Ala11262=)
c.33645T>G (p.Ala11215=)
c.59688T>G (p.Ala19896=)
c.55086T>G (p.Ala18362=)
c.55083T>G (p.Ala18361=)
c.52125T>G (p.Ala17375=)
c.33741T>G (p.Ala11247=)
c.55236T>G (p.Ala18412=)
c.55233T>G (p.Ala18411=)
c.54666T>G (p.Ala18222=)
c.52008T>G (p.Ala17336=)
c.51927T>G (p.Ala17309=)
c.33690T>G (p.Ala11230=)
c.23544T>G (p.Ala7848=)
 gnomAD v4
2g.178590930A>GCA430266239TTN,TTN-AS1c.53091T>C (p.Ala17697=)
c.34176T>C (p.Ala11392=)
c.33975T>C (p.Ala11325=)
c.33600T>C (p.Ala11200=)
c.60795T>C (p.Ala20265=)
c.55872T>C (p.Ala18624=)
n.597-6666A>G
n.3189-209A>G
c.59892T>C (p.Ala19964=)
c.33786T>C (p.Ala11262=)
c.33645T>C (p.Ala11215=)
c.59688T>C (p.Ala19896=)
c.55086T>C (p.Ala18362=)
c.55083T>C (p.Ala18361=)
c.52125T>C (p.Ala17375=)
c.33741T>C (p.Ala11247=)
c.55236T>C (p.Ala18412=)
c.55233T>C (p.Ala18411=)
c.54666T>C (p.Ala18222=)
c.52008T>C (p.Ala17336=)
c.51927T>C (p.Ala17309=)
c.33690T>C (p.Ala11230=)
c.23544T>C (p.Ala7848=)
2g.178590930A>TCA430266242TTN,TTN-AS1c.53091T>A (p.Ala17697=)
c.34176T>A (p.Ala11392=)
c.33975T>A (p.Ala11325=)
c.33600T>A (p.Ala11200=)
c.60795T>A (p.Ala20265=)
c.55872T>A (p.Ala18624=)
n.597-6666A>T
n.3189-209A>T
c.59892T>A (p.Ala19964=)
c.33786T>A (p.Ala11262=)
c.33645T>A (p.Ala11215=)
c.59688T>A (p.Ala19896=)
c.55086T>A (p.Ala18362=)
c.55083T>A (p.Ala18361=)
c.52125T>A (p.Ala17375=)
c.33741T>A (p.Ala11247=)
c.55236T>A (p.Ala18412=)
c.55233T>A (p.Ala18411=)
c.54666T>A (p.Ala18222=)
c.52008T>A (p.Ala17336=)
c.51927T>A (p.Ala17309=)
c.33690T>A (p.Ala11230=)
c.23544T>A (p.Ala7848=)
2g.178590931G>ACA349479450TTN,TTN-AS1c.53090C>T (p.Ala17697Val)
c.34175C>T (p.Ala11392Val)
c.33974C>T (p.Ala11325Val)
c.33599C>T (p.Ala11200Val)
c.60794C>T (p.Ala20265Val)
c.55871C>T (p.Ala18624Val)
n.597-6665G>A
n.3189-208G>A
c.59891C>T (p.Ala19964Val)
c.33785C>T (p.Ala11262Val)
c.33644C>T (p.Ala11215Val)
c.59687C>T (p.Ala19896Val)
c.55085C>T (p.Ala18362Val)
c.55082C>T (p.Ala18361Val)
c.52124C>T (p.Ala17375Val)
c.33740C>T (p.Ala11247Val)
c.55235C>T (p.Ala18412Val)
c.55232C>T (p.Ala18411Val)
c.54665C>T (p.Ala18222Val)
c.52007C>T (p.Ala17336Val)
c.51926C>T (p.Ala17309Val)
c.33689C>T (p.Ala11230Val)
c.23543C>T (p.Ala7848Val)
2g.178590931G>CCA349479453TTN,TTN-AS1c.53090C>G (p.Ala17697Gly)
c.34175C>G (p.Ala11392Gly)
c.33974C>G (p.Ala11325Gly)
c.33599C>G (p.Ala11200Gly)
c.60794C>G (p.Ala20265Gly)
c.55871C>G (p.Ala18624Gly)
n.597-6665G>C
n.3189-208G>C
c.59891C>G (p.Ala19964Gly)
c.33785C>G (p.Ala11262Gly)
c.33644C>G (p.Ala11215Gly)
c.59687C>G (p.Ala19896Gly)
c.55085C>G (p.Ala18362Gly)
c.55082C>G (p.Ala18361Gly)
c.52124C>G (p.Ala17375Gly)
c.33740C>G (p.Ala11247Gly)
c.55235C>G (p.Ala18412Gly)
c.55232C>G (p.Ala18411Gly)
c.54665C>G (p.Ala18222Gly)
c.52007C>G (p.Ala17336Gly)
c.51926C>G (p.Ala17309Gly)
c.33689C>G (p.Ala11230Gly)
c.23543C>G (p.Ala7848Gly)
2g.178590931G>TCA349479455TTN,TTN-AS1c.53090C>A (p.Ala17697Asp)
c.34175C>A (p.Ala11392Asp)
c.33974C>A (p.Ala11325Asp)
c.33599C>A (p.Ala11200Asp)
c.60794C>A (p.Ala20265Asp)
c.55871C>A (p.Ala18624Asp)
n.597-6665G>T
n.3189-208G>T
c.59891C>A (p.Ala19964Asp)
c.33785C>A (p.Ala11262Asp)
c.33644C>A (p.Ala11215Asp)
c.59687C>A (p.Ala19896Asp)
c.55085C>A (p.Ala18362Asp)
c.55082C>A (p.Ala18361Asp)
c.52124C>A (p.Ala17375Asp)
c.33740C>A (p.Ala11247Asp)
c.55235C>A (p.Ala18412Asp)
c.55232C>A (p.Ala18411Asp)
c.54665C>A (p.Ala18222Asp)
c.52007C>A (p.Ala17336Asp)
c.51926C>A (p.Ala17309Asp)
c.33689C>A (p.Ala11230Asp)
c.23543C>A (p.Ala7848Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178590932C>ACA349479460TTN,TTN-AS1c.53089G>T (p.Ala17697Ser)
c.34174G>T (p.Ala11392Ser)
c.33973G>T (p.Ala11325Ser)
c.33598G>T (p.Ala11200Ser)
c.60793G>T (p.Ala20265Ser)
c.55870G>T (p.Ala18624Ser)
n.597-6664C>A
n.3189-207C>A
c.59890G>T (p.Ala19964Ser)
c.33784G>T (p.Ala11262Ser)
c.33643G>T (p.Ala11215Ser)
c.59686G>T (p.Ala19896Ser)
c.55084G>T (p.Ala18362Ser)
c.55081G>T (p.Ala18361Ser)
c.52123G>T (p.Ala17375Ser)
c.33739G>T (p.Ala11247Ser)
c.55234G>T (p.Ala18412Ser)
c.55231G>T (p.Ala18411Ser)
c.54664G>T (p.Ala18222Ser)
c.52006G>T (p.Ala17336Ser)
c.51925G>T (p.Ala17309Ser)
c.33688G>T (p.Ala11230Ser)
c.23542G>T (p.Ala7848Ser)
2g.178590932C=CA1310539669TTN,TTN-AS1c.53089G= (p.Ala17697=)
c.34174G= (p.Ala11392=)
c.33973G= (p.Ala11325=)
c.33598G= (p.Ala11200=)
c.60793G= (p.Ala20265=)
c.55870G= (p.Ala18624=)
n.597-6664C=
n.3189-207C=
c.59890G= (p.Ala19964=)
c.33784G= (p.Ala11262=)
c.33643G= (p.Ala11215=)
c.59686G= (p.Ala19896=)
c.55084G= (p.Ala18362=)
c.55081G= (p.Ala18361=)
c.52123G= (p.Ala17375=)
c.33739G= (p.Ala11247=)
c.55234G= (p.Ala18412=)
c.55231G= (p.Ala18411=)
c.54664G= (p.Ala18222=)
c.52006G= (p.Ala17336=)
c.51925G= (p.Ala17309=)
c.33688G= (p.Ala11230=)
c.23542G= (p.Ala7848=)
2g.178590932C>GCA349479463TTN,TTN-AS1c.53089G>C (p.Ala17697Pro)
c.34174G>C (p.Ala11392Pro)
c.33973G>C (p.Ala11325Pro)
c.33598G>C (p.Ala11200Pro)
c.60793G>C (p.Ala20265Pro)
c.55870G>C (p.Ala18624Pro)
n.597-6664C>G
n.3189-207C>G
c.59890G>C (p.Ala19964Pro)
c.33784G>C (p.Ala11262Pro)
c.33643G>C (p.Ala11215Pro)
c.59686G>C (p.Ala19896Pro)
c.55084G>C (p.Ala18362Pro)
c.55081G>C (p.Ala18361Pro)
c.52123G>C (p.Ala17375Pro)
c.33739G>C (p.Ala11247Pro)
c.55234G>C (p.Ala18412Pro)
c.55231G>C (p.Ala18411Pro)
c.54664G>C (p.Ala18222Pro)
c.52006G>C (p.Ala17336Pro)
c.51925G>C (p.Ala17309Pro)
c.33688G>C (p.Ala11230Pro)
c.23542G>C (p.Ala7848Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178590932C>TCA349479465TTN,TTN-AS1c.53089G>A (p.Ala17697Thr)
c.34174G>A (p.Ala11392Thr)
c.33973G>A (p.Ala11325Thr)
c.33598G>A (p.Ala11200Thr)
c.60793G>A (p.Ala20265Thr)
c.55870G>A (p.Ala18624Thr)
n.597-6664C>T
n.3189-207C>T
c.59890G>A (p.Ala19964Thr)
c.33784G>A (p.Ala11262Thr)
c.33643G>A (p.Ala11215Thr)
c.59686G>A (p.Ala19896Thr)
c.55084G>A (p.Ala18362Thr)
c.55081G>A (p.Ala18361Thr)
c.52123G>A (p.Ala17375Thr)
c.33739G>A (p.Ala11247Thr)
c.55234G>A (p.Ala18412Thr)
c.55231G>A (p.Ala18411Thr)
c.54664G>A (p.Ala18222Thr)
c.52006G>A (p.Ala17336Thr)
c.51925G>A (p.Ala17309Thr)
c.33688G>A (p.Ala11230Thr)
c.23542G>A (p.Ala7848Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178590933A>CCA430266249TTN,TTN-AS1c.53088T>G (p.Val17696=)
c.34173T>G (p.Val11391=)
c.33972T>G (p.Val11324=)
c.33597T>G (p.Val11199=)
c.60792T>G (p.Val20264=)
c.55869T>G (p.Val18623=)
n.597-6663A>C
n.3189-206A>C
c.59889T>G (p.Val19963=)
c.33783T>G (p.Val11261=)
c.33642T>G (p.Val11214=)
c.59685T>G (p.Val19895=)
c.55083T>G (p.Val18361=)
c.55080T>G (p.Val18360=)
c.52122T>G (p.Val17374=)
c.33738T>G (p.Val11246=)
c.55233T>G (p.Val18411=)
c.55230T>G (p.Val18410=)
c.54663T>G (p.Val18221=)
c.52005T>G (p.Val17335=)
c.51924T>G (p.Val17308=)
c.33687T>G (p.Val11229=)
c.23541T>G (p.Val7847=)
2g.178590933A>GCA430266252TTN,TTN-AS1c.53088T>C (p.Val17696=)
c.34173T>C (p.Val11391=)
c.33972T>C (p.Val11324=)
c.33597T>C (p.Val11199=)
c.60792T>C (p.Val20264=)
c.55869T>C (p.Val18623=)
n.597-6663A>G
n.3189-206A>G
c.59889T>C (p.Val19963=)
c.33783T>C (p.Val11261=)
c.33642T>C (p.Val11214=)
c.59685T>C (p.Val19895=)
c.55083T>C (p.Val18361=)
c.55080T>C (p.Val18360=)
c.52122T>C (p.Val17374=)
c.33738T>C (p.Val11246=)
c.55233T>C (p.Val18411=)
c.55230T>C (p.Val18410=)
c.54663T>C (p.Val18221=)
c.52005T>C (p.Val17335=)
c.51924T>C (p.Val17308=)
c.33687T>C (p.Val11229=)
c.23541T>C (p.Val7847=)
2g.178590933A>TCA430266253TTN,TTN-AS1c.53088T>A (p.Val17696=)
c.34173T>A (p.Val11391=)
c.33972T>A (p.Val11324=)
c.33597T>A (p.Val11199=)
c.60792T>A (p.Val20264=)
c.55869T>A (p.Val18623=)
n.597-6663A>T
n.3189-206A>T
c.59889T>A (p.Val19963=)
c.33783T>A (p.Val11261=)
c.33642T>A (p.Val11214=)
c.59685T>A (p.Val19895=)
c.55083T>A (p.Val18361=)
c.55080T>A (p.Val18360=)
c.52122T>A (p.Val17374=)
c.33738T>A (p.Val11246=)
c.55233T>A (p.Val18411=)
c.55230T>A (p.Val18410=)
c.54663T>A (p.Val18221=)
c.52005T>A (p.Val17335=)
c.51924T>A (p.Val17308=)
c.33687T>A (p.Val11229=)
c.23541T>A (p.Val7847=)
2g.178590934A=CA1310539671TTN,TTN-AS1c.53087T= (p.Val17696=)
c.34172T= (p.Val11391=)
c.33971T= (p.Val11324=)
c.33596T= (p.Val11199=)
c.60791T= (p.Val20264=)
c.55868T= (p.Val18623=)
n.597-6662A=
n.3189-205A=
c.59888T= (p.Val19963=)
c.33782T= (p.Val11261=)
c.33641T= (p.Val11214=)
c.59684T= (p.Val19895=)
c.55082T= (p.Val18361=)
c.55079T= (p.Val18360=)
c.52121T= (p.Val17374=)
c.33737T= (p.Val11246=)
c.55232T= (p.Val18411=)
c.55229T= (p.Val18410=)
c.54662T= (p.Val18221=)
c.52004T= (p.Val17335=)
c.51923T= (p.Val17308=)
c.33686T= (p.Val11229=)
c.23540T= (p.Val7847=)
2g.178590934A>CCA349479477TTN,TTN-AS1c.53087T>G (p.Val17696Gly)
c.34172T>G (p.Val11391Gly)
c.33971T>G (p.Val11324Gly)
c.33596T>G (p.Val11199Gly)
c.60791T>G (p.Val20264Gly)
c.55868T>G (p.Val18623Gly)
n.597-6662A>C
n.3189-205A>C
c.59888T>G (p.Val19963Gly)
c.33782T>G (p.Val11261Gly)
c.33641T>G (p.Val11214Gly)
c.59684T>G (p.Val19895Gly)
c.55082T>G (p.Val18361Gly)
c.55079T>G (p.Val18360Gly)
c.52121T>G (p.Val17374Gly)
c.33737T>G (p.Val11246Gly)
c.55232T>G (p.Val18411Gly)
c.55229T>G (p.Val18410Gly)
c.54662T>G (p.Val18221Gly)
c.52004T>G (p.Val17335Gly)
c.51923T>G (p.Val17308Gly)
c.33686T>G (p.Val11229Gly)
c.23540T>G (p.Val7847Gly)
 dbSNP
2g.178590934A>GCA1992447TTN,TTN-AS1c.53087T>C (p.Val17696Ala)
c.34172T>C (p.Val11391Ala)
c.33971T>C (p.Val11324Ala)
c.33596T>C (p.Val11199Ala)
c.60791T>C (p.Val20264Ala)
c.55868T>C (p.Val18623Ala)
n.597-6662A>G
n.3189-205A>G
c.59888T>C (p.Val19963Ala)
c.33782T>C (p.Val11261Ala)
c.33641T>C (p.Val11214Ala)
c.59684T>C (p.Val19895Ala)
c.55082T>C (p.Val18361Ala)
c.55079T>C (p.Val18360Ala)
c.52121T>C (p.Val17374Ala)
c.33737T>C (p.Val11246Ala)
c.55232T>C (p.Val18411Ala)
c.55229T>C (p.Val18410Ala)
c.54662T>C (p.Val18221Ala)
c.52004T>C (p.Val17335Ala)
c.51923T>C (p.Val17308Ala)
c.33686T>C (p.Val11229Ala)
c.23540T>C (p.Val7847Ala)
 dbSNP ExAC gnomAD v2
2g.178590934A>TCA349479474TTN,TTN-AS1c.53087T>A (p.Val17696Asp)
c.34172T>A (p.Val11391Asp)
c.33971T>A (p.Val11324Asp)
c.33596T>A (p.Val11199Asp)
c.60791T>A (p.Val20264Asp)
c.55868T>A (p.Val18623Asp)
n.597-6662A>T
n.3189-205A>T
c.59888T>A (p.Val19963Asp)
c.33782T>A (p.Val11261Asp)
c.33641T>A (p.Val11214Asp)
c.59684T>A (p.Val19895Asp)
c.55082T>A (p.Val18361Asp)
c.55079T>A (p.Val18360Asp)
c.52121T>A (p.Val17374Asp)
c.33737T>A (p.Val11246Asp)
c.55232T>A (p.Val18411Asp)
c.55229T>A (p.Val18410Asp)
c.54662T>A (p.Val18221Asp)
c.52004T>A (p.Val17335Asp)
c.51923T>A (p.Val17308Asp)
c.33686T>A (p.Val11229Asp)
c.23540T>A (p.Val7847Asp)
 gnomAD v4
2g.178590935C>ACA349479482TTN,TTN-AS1c.53086G>T (p.Val17696Phe)
c.34171G>T (p.Val11391Phe)
c.33970G>T (p.Val11324Phe)
c.33595G>T (p.Val11199Phe)
c.60790G>T (p.Val20264Phe)
c.55867G>T (p.Val18623Phe)
n.597-6661C>A
n.3189-204C>A
c.59887G>T (p.Val19963Phe)
c.33781G>T (p.Val11261Phe)
c.33640G>T (p.Val11214Phe)
c.59683G>T (p.Val19895Phe)
c.55081G>T (p.Val18361Phe)
c.55078G>T (p.Val18360Phe)
c.52120G>T (p.Val17374Phe)
c.33736G>T (p.Val11246Phe)
c.55231G>T (p.Val18411Phe)
c.55228G>T (p.Val18410Phe)
c.54661G>T (p.Val18221Phe)
c.52003G>T (p.Val17335Phe)
c.51922G>T (p.Val17308Phe)
c.33685G>T (p.Val11229Phe)
c.23539G>T (p.Val7847Phe)
2g.178590935C>GCA349479485TTN,TTN-AS1c.53086G>C (p.Val17696Leu)
c.34171G>C (p.Val11391Leu)
c.33970G>C (p.Val11324Leu)
c.33595G>C (p.Val11199Leu)
c.60790G>C (p.Val20264Leu)
c.55867G>C (p.Val18623Leu)
n.597-6661C>G
n.3189-204C>G
c.59887G>C (p.Val19963Leu)
c.33781G>C (p.Val11261Leu)
c.33640G>C (p.Val11214Leu)
c.59683G>C (p.Val19895Leu)
c.55081G>C (p.Val18361Leu)
c.55078G>C (p.Val18360Leu)
c.52120G>C (p.Val17374Leu)
c.33736G>C (p.Val11246Leu)
c.55231G>C (p.Val18411Leu)
c.55228G>C (p.Val18410Leu)
c.54661G>C (p.Val18221Leu)
c.52003G>C (p.Val17335Leu)
c.51922G>C (p.Val17308Leu)
c.33685G>C (p.Val11229Leu)
c.23539G>C (p.Val7847Leu)
 gnomAD v4
2g.178590935C>TCA349479489TTN,TTN-AS1c.53086G>A (p.Val17696Ile)
c.34171G>A (p.Val11391Ile)
c.33970G>A (p.Val11324Ile)
c.33595G>A (p.Val11199Ile)
c.60790G>A (p.Val20264Ile)
c.55867G>A (p.Val18623Ile)
n.597-6661C>T
n.3189-204C>T
c.59887G>A (p.Val19963Ile)
c.33781G>A (p.Val11261Ile)
c.33640G>A (p.Val11214Ile)
c.59683G>A (p.Val19895Ile)
c.55081G>A (p.Val18361Ile)
c.55078G>A (p.Val18360Ile)
c.52120G>A (p.Val17374Ile)
c.33736G>A (p.Val11246Ile)
c.55231G>A (p.Val18411Ile)
c.55228G>A (p.Val18410Ile)
c.54661G>A (p.Val18221Ile)
c.52003G>A (p.Val17335Ile)
c.51922G>A (p.Val17308Ile)
c.33685G>A (p.Val11229Ile)
c.23539G>A (p.Val7847Ile)
2g.178590936A=CA1310539673TTN,TTN-AS1c.53085T= (p.Thr17695=)
c.34170T= (p.Thr11390=)
c.33969T= (p.Thr11323=)
c.33594T= (p.Thr11198=)
c.60789T= (p.Thr20263=)
c.55866T= (p.Thr18622=)
n.597-6660A=
n.3189-203A=
c.59886T= (p.Thr19962=)
c.33780T= (p.Thr11260=)
c.33639T= (p.Thr11213=)
c.59682T= (p.Thr19894=)
c.55080T= (p.Thr18360=)
c.55077T= (p.Thr18359=)
c.52119T= (p.Thr17373=)
c.33735T= (p.Thr11245=)
c.55230T= (p.Thr18410=)
c.55227T= (p.Thr18409=)
c.54660T= (p.Thr18220=)
c.52002T= (p.Thr17334=)
c.51921T= (p.Thr17307=)
c.33684T= (p.Thr11228=)
c.23538T= (p.Thr7846=)
2g.178590936A>CCA430266259TTN,TTN-AS1c.53085T>G (p.Thr17695=)
c.34170T>G (p.Thr11390=)
c.33969T>G (p.Thr11323=)
c.33594T>G (p.Thr11198=)
c.60789T>G (p.Thr20263=)
c.55866T>G (p.Thr18622=)
n.597-6660A>C
n.3189-203A>C
c.59886T>G (p.Thr19962=)
c.33780T>G (p.Thr11260=)
c.33639T>G (p.Thr11213=)
c.59682T>G (p.Thr19894=)
c.55080T>G (p.Thr18360=)
c.55077T>G (p.Thr18359=)
c.52119T>G (p.Thr17373=)
c.33735T>G (p.Thr11245=)
c.55230T>G (p.Thr18410=)
c.55227T>G (p.Thr18409=)
c.54660T>G (p.Thr18220=)
c.52002T>G (p.Thr17334=)
c.51921T>G (p.Thr17307=)
c.33684T>G (p.Thr11228=)
c.23538T>G (p.Thr7846=)
2g.178590936A>GCA430266255TTN,TTN-AS1c.53085T>C (p.Thr17695=)
c.34170T>C (p.Thr11390=)
c.33969T>C (p.Thr11323=)
c.33594T>C (p.Thr11198=)
c.60789T>C (p.Thr20263=)
c.55866T>C (p.Thr18622=)
n.597-6660A>G
n.3189-203A>G
c.59886T>C (p.Thr19962=)
c.33780T>C (p.Thr11260=)
c.33639T>C (p.Thr11213=)
c.59682T>C (p.Thr19894=)
c.55080T>C (p.Thr18360=)
c.55077T>C (p.Thr18359=)
c.52119T>C (p.Thr17373=)
c.33735T>C (p.Thr11245=)
c.55230T>C (p.Thr18410=)
c.55227T>C (p.Thr18409=)
c.54660T>C (p.Thr18220=)
c.52002T>C (p.Thr17334=)
c.51921T>C (p.Thr17307=)
c.33684T>C (p.Thr11228=)
c.23538T>C (p.Thr7846=)
 dbSNP
2g.178590936A>TCA430266258TTN,TTN-AS1c.53085T>A (p.Thr17695=)
c.34170T>A (p.Thr11390=)
c.33969T>A (p.Thr11323=)
c.33594T>A (p.Thr11198=)
c.60789T>A (p.Thr20263=)
c.55866T>A (p.Thr18622=)
n.597-6660A>T
n.3189-203A>T
c.59886T>A (p.Thr19962=)
c.33780T>A (p.Thr11260=)
c.33639T>A (p.Thr11213=)
c.59682T>A (p.Thr19894=)
c.55080T>A (p.Thr18360=)
c.55077T>A (p.Thr18359=)
c.52119T>A (p.Thr17373=)
c.33735T>A (p.Thr11245=)
c.55230T>A (p.Thr18410=)
c.55227T>A (p.Thr18409=)
c.54660T>A (p.Thr18220=)
c.52002T>A (p.Thr17334=)
c.51921T>A (p.Thr17307=)
c.33684T>A (p.Thr11228=)
c.23538T>A (p.Thr7846=)
2g.178590937G>ACA349479490TTN,TTN-AS1c.53084C>T (p.Thr17695Ile)
c.34169C>T (p.Thr11390Ile)
c.33968C>T (p.Thr11323Ile)
c.33593C>T (p.Thr11198Ile)
c.60788C>T (p.Thr20263Ile)
c.55865C>T (p.Thr18622Ile)
n.597-6659G>A
n.3189-202G>A
c.59885C>T (p.Thr19962Ile)
c.33779C>T (p.Thr11260Ile)
c.33638C>T (p.Thr11213Ile)
c.59681C>T (p.Thr19894Ile)
c.55079C>T (p.Thr18360Ile)
c.55076C>T (p.Thr18359Ile)
c.52118C>T (p.Thr17373Ile)
c.33734C>T (p.Thr11245Ile)
c.55229C>T (p.Thr18410Ile)
c.55226C>T (p.Thr18409Ile)
c.54659C>T (p.Thr18220Ile)
c.52001C>T (p.Thr17334Ile)
c.51920C>T (p.Thr17307Ile)
c.33683C>T (p.Thr11228Ile)
c.23537C>T (p.Thr7846Ile)
2g.178590937G>CCA349479491TTN,TTN-AS1c.53084C>G (p.Thr17695Ser)
c.34169C>G (p.Thr11390Ser)
c.33968C>G (p.Thr11323Ser)
c.33593C>G (p.Thr11198Ser)
c.60788C>G (p.Thr20263Ser)
c.55865C>G (p.Thr18622Ser)
n.597-6659G>C
n.3189-202G>C
c.59885C>G (p.Thr19962Ser)
c.33779C>G (p.Thr11260Ser)
c.33638C>G (p.Thr11213Ser)
c.59681C>G (p.Thr19894Ser)
c.55079C>G (p.Thr18360Ser)
c.55076C>G (p.Thr18359Ser)
c.52118C>G (p.Thr17373Ser)
c.33734C>G (p.Thr11245Ser)
c.55229C>G (p.Thr18410Ser)
c.55226C>G (p.Thr18409Ser)
c.54659C>G (p.Thr18220Ser)
c.52001C>G (p.Thr17334Ser)
c.51920C>G (p.Thr17307Ser)
c.33683C>G (p.Thr11228Ser)
c.23537C>G (p.Thr7846Ser)
2g.178590937G>TCA349479492TTN,TTN-AS1c.53084C>A (p.Thr17695Asn)
c.34169C>A (p.Thr11390Asn)
c.33968C>A (p.Thr11323Asn)
c.33593C>A (p.Thr11198Asn)
c.60788C>A (p.Thr20263Asn)
c.55865C>A (p.Thr18622Asn)
n.597-6659G>T
n.3189-202G>T
c.59885C>A (p.Thr19962Asn)
c.33779C>A (p.Thr11260Asn)
c.33638C>A (p.Thr11213Asn)
c.59681C>A (p.Thr19894Asn)
c.55079C>A (p.Thr18360Asn)
c.55076C>A (p.Thr18359Asn)
c.52118C>A (p.Thr17373Asn)
c.33734C>A (p.Thr11245Asn)
c.55229C>A (p.Thr18410Asn)
c.55226C>A (p.Thr18409Asn)
c.54659C>A (p.Thr18220Asn)
c.52001C>A (p.Thr17334Asn)
c.51920C>A (p.Thr17307Asn)
c.33683C>A (p.Thr11228Asn)
c.23537C>A (p.Thr7846Asn)
2g.178590938T>ACA349479495TTN,TTN-AS1c.53083A>T (p.Thr17695Ser)
c.34168A>T (p.Thr11390Ser)
c.33967A>T (p.Thr11323Ser)
c.33592A>T (p.Thr11198Ser)
c.60787A>T (p.Thr20263Ser)
c.55864A>T (p.Thr18622Ser)
n.597-6658T>A
n.3189-201T>A
c.59884A>T (p.Thr19962Ser)
c.33778A>T (p.Thr11260Ser)
c.33637A>T (p.Thr11213Ser)
c.59680A>T (p.Thr19894Ser)
c.55078A>T (p.Thr18360Ser)
c.55075A>T (p.Thr18359Ser)
c.52117A>T (p.Thr17373Ser)
c.33733A>T (p.Thr11245Ser)
c.55228A>T (p.Thr18410Ser)
c.55225A>T (p.Thr18409Ser)
c.54658A>T (p.Thr18220Ser)
c.52000A>T (p.Thr17334Ser)
c.51919A>T (p.Thr17307Ser)
c.33682A>T (p.Thr11228Ser)
c.23536A>T (p.Thr7846Ser)
2g.178590938T>CCA10587490TTN,TTN-AS1c.53083A>G (p.Thr17695Ala)
c.34168A>G (p.Thr11390Ala)
c.33967A>G (p.Thr11323Ala)
c.33592A>G (p.Thr11198Ala)
c.60787A>G (p.Thr20263Ala)
c.55864A>G (p.Thr18622Ala)
n.597-6658T>C
n.3189-201T>C
c.59884A>G (p.Thr19962Ala)
c.33778A>G (p.Thr11260Ala)
c.33637A>G (p.Thr11213Ala)
c.59680A>G (p.Thr19894Ala)
c.55078A>G (p.Thr18360Ala)
c.55075A>G (p.Thr18359Ala)
c.52117A>G (p.Thr17373Ala)
c.33733A>G (p.Thr11245Ala)
c.55228A>G (p.Thr18410Ala)
c.55225A>G (p.Thr18409Ala)
c.54658A>G (p.Thr18220Ala)
c.52000A>G (p.Thr17334Ala)
c.51919A>G (p.Thr17307Ala)
c.33682A>G (p.Thr11228Ala)
c.23536A>G (p.Thr7846Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178590938T>GCA349479499TTN,TTN-AS1c.53083A>C (p.Thr17695Pro)
c.34168A>C (p.Thr11390Pro)
c.33967A>C (p.Thr11323Pro)
c.33592A>C (p.Thr11198Pro)
c.60787A>C (p.Thr20263Pro)
c.55864A>C (p.Thr18622Pro)
n.597-6658T>G
n.3189-201T>G
c.59884A>C (p.Thr19962Pro)
c.33778A>C (p.Thr11260Pro)
c.33637A>C (p.Thr11213Pro)
c.59680A>C (p.Thr19894Pro)
c.55078A>C (p.Thr18360Pro)
c.55075A>C (p.Thr18359Pro)
c.52117A>C (p.Thr17373Pro)
c.33733A>C (p.Thr11245Pro)
c.55228A>C (p.Thr18410Pro)
c.55225A>C (p.Thr18409Pro)
c.54658A>C (p.Thr18220Pro)
c.52000A>C (p.Thr17334Pro)
c.51919A>C (p.Thr17307Pro)
c.33682A>C (p.Thr11228Pro)
c.23536A>C (p.Thr7846Pro)
2g.178590938T=CA1310539675TTN,TTN-AS1c.53083A= (p.Thr17695=)
c.34168A= (p.Thr11390=)
c.33967A= (p.Thr11323=)
c.33592A= (p.Thr11198=)
c.60787A= (p.Thr20263=)
c.55864A= (p.Thr18622=)
n.597-6658T=
n.3189-201T=
c.59884A= (p.Thr19962=)
c.33778A= (p.Thr11260=)
c.33637A= (p.Thr11213=)
c.59680A= (p.Thr19894=)
c.55078A= (p.Thr18360=)
c.55075A= (p.Thr18359=)
c.52117A= (p.Thr17373=)
c.33733A= (p.Thr11245=)
c.55228A= (p.Thr18410=)
c.55225A= (p.Thr18409=)
c.54658A= (p.Thr18220=)
c.52000A= (p.Thr17334=)
c.51919A= (p.Thr17307=)
c.33682A= (p.Thr11228=)
c.23536A= (p.Thr7846=)
2g.178590939A=CA1310539678TTN,TTN-AS1c.53082T= (p.Pro17694=)
c.34167T= (p.Pro11389=)
c.33966T= (p.Pro11322=)
c.33591T= (p.Pro11197=)
c.60786T= (p.Pro20262=)
c.55863T= (p.Pro18621=)
n.597-6657A=
n.3189-200A=
c.59883T= (p.Pro19961=)
c.33777T= (p.Pro11259=)
c.33636T= (p.Pro11212=)
c.59679T= (p.Pro19893=)
c.55077T= (p.Pro18359=)
c.55074T= (p.Pro18358=)
c.52116T= (p.Pro17372=)
c.33732T= (p.Pro11244=)
c.55227T= (p.Pro18409=)
c.55224T= (p.Pro18408=)
c.54657T= (p.Pro18219=)
c.51999T= (p.Pro17333=)
c.51918T= (p.Pro17306=)
c.33681T= (p.Pro11227=)
c.23535T= (p.Pro7845=)
2g.178590939A>CCA430266261TTN,TTN-AS1c.53082T>G (p.Pro17694=)
c.34167T>G (p.Pro11389=)
c.33966T>G (p.Pro11322=)
c.33591T>G (p.Pro11197=)
c.60786T>G (p.Pro20262=)
c.55863T>G (p.Pro18621=)
n.597-6657A>C
n.3189-200A>C
c.59883T>G (p.Pro19961=)
c.33777T>G (p.Pro11259=)
c.33636T>G (p.Pro11212=)
c.59679T>G (p.Pro19893=)
c.55077T>G (p.Pro18359=)
c.55074T>G (p.Pro18358=)
c.52116T>G (p.Pro17372=)
c.33732T>G (p.Pro11244=)
c.55227T>G (p.Pro18409=)
c.55224T>G (p.Pro18408=)
c.54657T>G (p.Pro18219=)
c.51999T>G (p.Pro17333=)
c.51918T>G (p.Pro17306=)
c.33681T>G (p.Pro11227=)
c.23535T>G (p.Pro7845=)

Number of alleles fetched