Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546504_178546600delCA2753330800TTN,TTN-AS1c.87124+1_87125-1del
c.68209+1_68210-1del
c.68008+1_68009-1del
c.67633+1_67634-1del
c.94828+1_94829-1del
c.89905+1_89906-1del
n.446+22868_446+22964del
n.2043+4143_2043+4239del
c.93925+1_93926-1del
c.67819+1_67820-1del
c.67678+1_67679-1del
c.93721+1_93722-1del
c.89119+1_89120-1del
c.89116+1_89117-1del
c.86158+1_86159-1del
c.67774+1_67775-1del
c.89269+1_89270-1del
c.89266+1_89267-1del
c.88699+1_88700-1del
c.86041+1_86042-1del
c.85960+1_85961-1del
c.67723+1_67724-1del
c.57577+1_57578-1del
2g.178546534A=CA1310523163TTN,TTN-AS1c.87125-32T= (n.87125-32T=)
c.68210-32T= (n.68210-32T=)
c.68009-32T= (n.68009-32T=)
c.67634-32T= (n.67634-32T=)
c.94829-32T= (n.94829-32T=)
c.89906-32T= (n.89906-32T=)
n.446+22898A=
n.2043+4173A=
c.93926-32T= (n.93926-32T=)
c.67820-32T= (n.67820-32T=)
c.67679-32T= (n.67679-32T=)
c.93722-32T= (n.93722-32T=)
c.89120-32T= (n.89120-32T=)
c.89117-32T= (n.89117-32T=)
c.86159-32T= (n.86159-32T=)
c.67775-32T= (n.67775-32T=)
c.89270-32T= (n.89270-32T=)
c.89267-32T= (n.89267-32T=)
c.88700-32T= (n.88700-32T=)
c.86042-32T= (n.86042-32T=)
c.85961-32T= (n.85961-32T=)
c.67724-32T= (n.67724-32T=)
c.57578-32T= (n.57578-32T=)
2g.178546534A>GCA1987066TTN,TTN-AS1c.87125-32T>C (n.87125-32T>C)
c.68210-32T>C (n.68210-32T>C)
c.68009-32T>C (n.68009-32T>C)
c.67634-32T>C (n.67634-32T>C)
c.94829-32T>C (n.94829-32T>C)
c.89906-32T>C (n.89906-32T>C)
n.446+22898A>G
n.2043+4173A>G
c.93926-32T>C (n.93926-32T>C)
c.67820-32T>C (n.67820-32T>C)
c.67679-32T>C (n.67679-32T>C)
c.93722-32T>C (n.93722-32T>C)
c.89120-32T>C (n.89120-32T>C)
c.89117-32T>C (n.89117-32T>C)
c.86159-32T>C (n.86159-32T>C)
c.67775-32T>C (n.67775-32T>C)
c.89270-32T>C (n.89270-32T>C)
c.89267-32T>C (n.89267-32T>C)
c.88700-32T>C (n.88700-32T>C)
c.86042-32T>C (n.86042-32T>C)
c.85961-32T>C (n.85961-32T>C)
c.67724-32T>C (n.67724-32T>C)
c.57578-32T>C (n.57578-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546535T>CCA1987067TTN,TTN-AS1c.87125-33A>G (n.87125-33A>G)
c.68210-33A>G (n.68210-33A>G)
c.68009-33A>G (n.68009-33A>G)
c.67634-33A>G (n.67634-33A>G)
c.94829-33A>G (n.94829-33A>G)
c.89906-33A>G (n.89906-33A>G)
n.446+22899T>C
n.2043+4174T>C
c.93926-33A>G (n.93926-33A>G)
c.67820-33A>G (n.67820-33A>G)
c.67679-33A>G (n.67679-33A>G)
c.93722-33A>G (n.93722-33A>G)
c.89120-33A>G (n.89120-33A>G)
c.89117-33A>G (n.89117-33A>G)
c.86159-33A>G (n.86159-33A>G)
c.67775-33A>G (n.67775-33A>G)
c.89270-33A>G (n.89270-33A>G)
c.89267-33A>G (n.89267-33A>G)
c.88700-33A>G (n.88700-33A>G)
c.86042-33A>G (n.86042-33A>G)
c.85961-33A>G (n.85961-33A>G)
c.67724-33A>G (n.67724-33A>G)
c.57578-33A>G (n.57578-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546535T=CA1310523167TTN,TTN-AS1c.87125-33A= (n.87125-33A=)
c.68210-33A= (n.68210-33A=)
c.68009-33A= (n.68009-33A=)
c.67634-33A= (n.67634-33A=)
c.94829-33A= (n.94829-33A=)
c.89906-33A= (n.89906-33A=)
n.446+22899T=
n.2043+4174T=
c.93926-33A= (n.93926-33A=)
c.67820-33A= (n.67820-33A=)
c.67679-33A= (n.67679-33A=)
c.93722-33A= (n.93722-33A=)
c.89120-33A= (n.89120-33A=)
c.89117-33A= (n.89117-33A=)
c.86159-33A= (n.86159-33A=)
c.67775-33A= (n.67775-33A=)
c.89270-33A= (n.89270-33A=)
c.89267-33A= (n.89267-33A=)
c.88700-33A= (n.88700-33A=)
c.86042-33A= (n.86042-33A=)
c.85961-33A= (n.85961-33A=)
c.67724-33A= (n.67724-33A=)
c.57578-33A= (n.57578-33A=)
2g.178546536C>ACA60972432TTN,TTN-AS1c.87125-34G>T (n.87125-34G>T)
c.68210-34G>T (n.68210-34G>T)
c.68009-34G>T (n.68009-34G>T)
c.67634-34G>T (n.67634-34G>T)
c.94829-34G>T (n.94829-34G>T)
c.89906-34G>T (n.89906-34G>T)
n.446+22900C>A
n.2043+4175C>A
c.93926-34G>T (n.93926-34G>T)
c.67820-34G>T (n.67820-34G>T)
c.67679-34G>T (n.67679-34G>T)
c.93722-34G>T (n.93722-34G>T)
c.89120-34G>T (n.89120-34G>T)
c.89117-34G>T (n.89117-34G>T)
c.86159-34G>T (n.86159-34G>T)
c.67775-34G>T (n.67775-34G>T)
c.89270-34G>T (n.89270-34G>T)
c.89267-34G>T (n.89267-34G>T)
c.88700-34G>T (n.88700-34G>T)
c.86042-34G>T (n.86042-34G>T)
c.85961-34G>T (n.85961-34G>T)
c.67724-34G>T (n.67724-34G>T)
c.57578-34G>T (n.57578-34G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178546536C=CA1310523171TTN,TTN-AS1c.87125-34G= (n.87125-34G=)
c.68210-34G= (n.68210-34G=)
c.68009-34G= (n.68009-34G=)
c.67634-34G= (n.67634-34G=)
c.94829-34G= (n.94829-34G=)
c.89906-34G= (n.89906-34G=)
n.446+22900C=
n.2043+4175C=
c.93926-34G= (n.93926-34G=)
c.67820-34G= (n.67820-34G=)
c.67679-34G= (n.67679-34G=)
c.93722-34G= (n.93722-34G=)
c.89120-34G= (n.89120-34G=)
c.89117-34G= (n.89117-34G=)
c.86159-34G= (n.86159-34G=)
c.67775-34G= (n.67775-34G=)
c.89270-34G= (n.89270-34G=)
c.89267-34G= (n.89267-34G=)
c.88700-34G= (n.88700-34G=)
c.86042-34G= (n.86042-34G=)
c.85961-34G= (n.85961-34G=)
c.67724-34G= (n.67724-34G=)
c.57578-34G= (n.57578-34G=)
2g.178546536C>TCA60972436TTN,TTN-AS1c.87125-34G>A (n.87125-34G>A)
c.68210-34G>A (n.68210-34G>A)
c.68009-34G>A (n.68009-34G>A)
c.67634-34G>A (n.67634-34G>A)
c.94829-34G>A (n.94829-34G>A)
c.89906-34G>A (n.89906-34G>A)
n.446+22900C>T
n.2043+4175C>T
c.93926-34G>A (n.93926-34G>A)
c.67820-34G>A (n.67820-34G>A)
c.67679-34G>A (n.67679-34G>A)
c.93722-34G>A (n.93722-34G>A)
c.89120-34G>A (n.89120-34G>A)
c.89117-34G>A (n.89117-34G>A)
c.86159-34G>A (n.86159-34G>A)
c.67775-34G>A (n.67775-34G>A)
c.89270-34G>A (n.89270-34G>A)
c.89267-34G>A (n.89267-34G>A)
c.88700-34G>A (n.88700-34G>A)
c.86042-34G>A (n.86042-34G>A)
c.85961-34G>A (n.85961-34G>A)
c.67724-34G>A (n.67724-34G>A)
c.57578-34G>A (n.57578-34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546538G>CCA2662126075TTN,TTN-AS1c.87125-36C>G (n.87125-36C>G)
c.68210-36C>G (n.68210-36C>G)
c.68009-36C>G (n.68009-36C>G)
c.67634-36C>G (n.67634-36C>G)
c.94829-36C>G (n.94829-36C>G)
c.89906-36C>G (n.89906-36C>G)
n.446+22902G>C
n.2043+4177G>C
c.93926-36C>G (n.93926-36C>G)
c.67820-36C>G (n.67820-36C>G)
c.67679-36C>G (n.67679-36C>G)
c.93722-36C>G (n.93722-36C>G)
c.89120-36C>G (n.89120-36C>G)
c.89117-36C>G (n.89117-36C>G)
c.86159-36C>G (n.86159-36C>G)
c.67775-36C>G (n.67775-36C>G)
c.89270-36C>G (n.89270-36C>G)
c.89267-36C>G (n.89267-36C>G)
c.88700-36C>G (n.88700-36C>G)
c.86042-36C>G (n.86042-36C>G)
c.85961-36C>G (n.85961-36C>G)
c.67724-36C>G (n.67724-36C>G)
c.57578-36C>G (n.57578-36C>G)
 gnomAD v4
2g.178546539A>GCA2662126079TTN,TTN-AS1c.87125-37T>C (n.87125-37T>C)
c.68210-37T>C (n.68210-37T>C)
c.68009-37T>C (n.68009-37T>C)
c.67634-37T>C (n.67634-37T>C)
c.94829-37T>C (n.94829-37T>C)
c.89906-37T>C (n.89906-37T>C)
n.446+22903A>G
n.2043+4178A>G
c.93926-37T>C (n.93926-37T>C)
c.67820-37T>C (n.67820-37T>C)
c.67679-37T>C (n.67679-37T>C)
c.93722-37T>C (n.93722-37T>C)
c.89120-37T>C (n.89120-37T>C)
c.89117-37T>C (n.89117-37T>C)
c.86159-37T>C (n.86159-37T>C)
c.67775-37T>C (n.67775-37T>C)
c.89270-37T>C (n.89270-37T>C)
c.89267-37T>C (n.89267-37T>C)
c.88700-37T>C (n.88700-37T>C)
c.86042-37T>C (n.86042-37T>C)
c.85961-37T>C (n.85961-37T>C)
c.67724-37T>C (n.67724-37T>C)
c.57578-37T>C (n.57578-37T>C)
 gnomAD v4
2g.178546539dupCA2662126077TTN,TTN-AS1c.87125-37dup (n.87125-37dup)
c.68210-37dup (n.68210-37dup)
c.68009-37dup (n.68009-37dup)
c.67634-37dup (n.67634-37dup)
c.94829-37dup (n.94829-37dup)
c.89906-37dup (n.89906-37dup)
n.446+22903dup
n.2043+4178dup
c.93926-37dup (n.93926-37dup)
c.67820-37dup (n.67820-37dup)
c.67679-37dup (n.67679-37dup)
c.93722-37dup (n.93722-37dup)
c.89120-37dup (n.89120-37dup)
c.89117-37dup (n.89117-37dup)
c.86159-37dup (n.86159-37dup)
c.67775-37dup (n.67775-37dup)
c.89270-37dup (n.89270-37dup)
c.89267-37dup (n.89267-37dup)
c.88700-37dup (n.88700-37dup)
c.86042-37dup (n.86042-37dup)
c.85961-37dup (n.85961-37dup)
c.67724-37dup (n.67724-37dup)
c.57578-37dup (n.57578-37dup)
 gnomAD v4
2g.178546544T>ACA1987068TTN,TTN-AS1c.87125-42A>T (n.87125-42A>T)
c.68210-42A>T (n.68210-42A>T)
c.68009-42A>T (n.68009-42A>T)
c.67634-42A>T (n.67634-42A>T)
c.94829-42A>T (n.94829-42A>T)
c.89906-42A>T (n.89906-42A>T)
n.446+22908T>A
n.2043+4183T>A
c.93926-42A>T (n.93926-42A>T)
c.67820-42A>T (n.67820-42A>T)
c.67679-42A>T (n.67679-42A>T)
c.93722-42A>T (n.93722-42A>T)
c.89120-42A>T (n.89120-42A>T)
c.89117-42A>T (n.89117-42A>T)
c.86159-42A>T (n.86159-42A>T)
c.67775-42A>T (n.67775-42A>T)
c.89270-42A>T (n.89270-42A>T)
c.89267-42A>T (n.89267-42A>T)
c.88700-42A>T (n.88700-42A>T)
c.86042-42A>T (n.86042-42A>T)
c.85961-42A>T (n.85961-42A>T)
c.67724-42A>T (n.67724-42A>T)
c.57578-42A>T (n.57578-42A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546544T=CA1310523176TTN,TTN-AS1c.87125-42A= (n.87125-42A=)
c.68210-42A= (n.68210-42A=)
c.68009-42A= (n.68009-42A=)
c.67634-42A= (n.67634-42A=)
c.94829-42A= (n.94829-42A=)
c.89906-42A= (n.89906-42A=)
n.446+22908T=
n.2043+4183T=
c.93926-42A= (n.93926-42A=)
c.67820-42A= (n.67820-42A=)
c.67679-42A= (n.67679-42A=)
c.93722-42A= (n.93722-42A=)
c.89120-42A= (n.89120-42A=)
c.89117-42A= (n.89117-42A=)
c.86159-42A= (n.86159-42A=)
c.67775-42A= (n.67775-42A=)
c.89270-42A= (n.89270-42A=)
c.89267-42A= (n.89267-42A=)
c.88700-42A= (n.88700-42A=)
c.86042-42A= (n.86042-42A=)
c.85961-42A= (n.85961-42A=)
c.67724-42A= (n.67724-42A=)
c.57578-42A= (n.57578-42A=)
2g.178546546A>GCA2662126086TTN,TTN-AS1c.87125-44T>C (n.87125-44T>C)
c.68210-44T>C (n.68210-44T>C)
c.68009-44T>C (n.68009-44T>C)
c.67634-44T>C (n.67634-44T>C)
c.94829-44T>C (n.94829-44T>C)
c.89906-44T>C (n.89906-44T>C)
n.446+22910A>G
n.2043+4185A>G
c.93926-44T>C (n.93926-44T>C)
c.67820-44T>C (n.67820-44T>C)
c.67679-44T>C (n.67679-44T>C)
c.93722-44T>C (n.93722-44T>C)
c.89120-44T>C (n.89120-44T>C)
c.89117-44T>C (n.89117-44T>C)
c.86159-44T>C (n.86159-44T>C)
c.67775-44T>C (n.67775-44T>C)
c.89270-44T>C (n.89270-44T>C)
c.89267-44T>C (n.89267-44T>C)
c.88700-44T>C (n.88700-44T>C)
c.86042-44T>C (n.86042-44T>C)
c.85961-44T>C (n.85961-44T>C)
c.67724-44T>C (n.67724-44T>C)
c.57578-44T>C (n.57578-44T>C)
 gnomAD v4
2g.178546551C>ACA2662126089TTN,TTN-AS1c.87125-49G>T (n.87125-49G>T)
c.68210-49G>T (n.68210-49G>T)
c.68009-49G>T (n.68009-49G>T)
c.67634-49G>T (n.67634-49G>T)
c.94829-49G>T (n.94829-49G>T)
c.89906-49G>T (n.89906-49G>T)
n.446+22915C>A
n.2043+4190C>A
c.93926-49G>T (n.93926-49G>T)
c.67820-49G>T (n.67820-49G>T)
c.67679-49G>T (n.67679-49G>T)
c.93722-49G>T (n.93722-49G>T)
c.89120-49G>T (n.89120-49G>T)
c.89117-49G>T (n.89117-49G>T)
c.86159-49G>T (n.86159-49G>T)
c.67775-49G>T (n.67775-49G>T)
c.89270-49G>T (n.89270-49G>T)
c.89267-49G>T (n.89267-49G>T)
c.88700-49G>T (n.88700-49G>T)
c.86042-49G>T (n.86042-49G>T)
c.85961-49G>T (n.85961-49G>T)
c.67724-49G>T (n.67724-49G>T)
c.57578-49G>T (n.57578-49G>T)
 gnomAD v4
2g.178546553C>TCA2662126090TTN,TTN-AS1c.87124+47G>A (n.87124+47G>A)
c.68209+47G>A (n.68209+47G>A)
c.68008+47G>A (n.68008+47G>A)
c.67633+47G>A (n.67633+47G>A)
c.94828+47G>A (n.94828+47G>A)
c.89905+47G>A (n.89905+47G>A)
n.446+22917C>T
n.2043+4192C>T
c.93925+47G>A (n.93925+47G>A)
c.67819+47G>A (n.67819+47G>A)
c.67678+47G>A (n.67678+47G>A)
c.93721+47G>A (n.93721+47G>A)
c.89119+47G>A (n.89119+47G>A)
c.89116+47G>A (n.89116+47G>A)
c.86158+47G>A (n.86158+47G>A)
c.67774+47G>A (n.67774+47G>A)
c.89269+47G>A (n.89269+47G>A)
c.89266+47G>A (n.89266+47G>A)
c.88699+47G>A (n.88699+47G>A)
c.86041+47G>A (n.86041+47G>A)
c.85960+47G>A (n.85960+47G>A)
c.67723+47G>A (n.67723+47G>A)
c.57577+47G>A (n.57577+47G>A)
 gnomAD v4
2g.178546555T>CCA538435118TTN,TTN-AS1c.87124+45A>G (n.87124+45A>G)
c.68209+45A>G (n.68209+45A>G)
c.68008+45A>G (n.68008+45A>G)
c.67633+45A>G (n.67633+45A>G)
c.94828+45A>G (n.94828+45A>G)
c.89905+45A>G (n.89905+45A>G)
n.446+22919T>C
n.2043+4194T>C
c.93925+45A>G (n.93925+45A>G)
c.67819+45A>G (n.67819+45A>G)
c.67678+45A>G (n.67678+45A>G)
c.93721+45A>G (n.93721+45A>G)
c.89119+45A>G (n.89119+45A>G)
c.89116+45A>G (n.89116+45A>G)
c.86158+45A>G (n.86158+45A>G)
c.67774+45A>G (n.67774+45A>G)
c.89269+45A>G (n.89269+45A>G)
c.89266+45A>G (n.89266+45A>G)
c.88699+45A>G (n.88699+45A>G)
c.86041+45A>G (n.86041+45A>G)
c.85960+45A>G (n.85960+45A>G)
c.67723+45A>G (n.67723+45A>G)
c.57577+45A>G (n.57577+45A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178546555T=CA1310523179TTN,TTN-AS1c.87124+45A= (n.87124+45A=)
c.68209+45A= (n.68209+45A=)
c.68008+45A= (n.68008+45A=)
c.67633+45A= (n.67633+45A=)
c.94828+45A= (n.94828+45A=)
c.89905+45A= (n.89905+45A=)
n.446+22919T=
n.2043+4194T=
c.93925+45A= (n.93925+45A=)
c.67819+45A= (n.67819+45A=)
c.67678+45A= (n.67678+45A=)
c.93721+45A= (n.93721+45A=)
c.89119+45A= (n.89119+45A=)
c.89116+45A= (n.89116+45A=)
c.86158+45A= (n.86158+45A=)
c.67774+45A= (n.67774+45A=)
c.89269+45A= (n.89269+45A=)
c.89266+45A= (n.89266+45A=)
c.88699+45A= (n.88699+45A=)
c.86041+45A= (n.86041+45A=)
c.85960+45A= (n.85960+45A=)
c.67723+45A= (n.67723+45A=)
c.57577+45A= (n.57577+45A=)
2g.178546556A=CA1310523184TTN,TTN-AS1c.87124+44T= (n.87124+44T=)
c.68209+44T= (n.68209+44T=)
c.68008+44T= (n.68008+44T=)
c.67633+44T= (n.67633+44T=)
c.94828+44T= (n.94828+44T=)
c.89905+44T= (n.89905+44T=)
n.446+22920A=
n.2043+4195A=
c.93925+44T= (n.93925+44T=)
c.67819+44T= (n.67819+44T=)
c.67678+44T= (n.67678+44T=)
c.93721+44T= (n.93721+44T=)
c.89119+44T= (n.89119+44T=)
c.89116+44T= (n.89116+44T=)
c.86158+44T= (n.86158+44T=)
c.67774+44T= (n.67774+44T=)
c.89269+44T= (n.89269+44T=)
c.89266+44T= (n.89266+44T=)
c.88699+44T= (n.88699+44T=)
c.86041+44T= (n.86041+44T=)
c.85960+44T= (n.85960+44T=)
c.67723+44T= (n.67723+44T=)
c.57577+44T= (n.57577+44T=)
2g.178546556A>GCA430242383TTN,TTN-AS1c.87124+44T>C (n.87124+44T>C)
c.68209+44T>C (n.68209+44T>C)
c.68008+44T>C (n.68008+44T>C)
c.67633+44T>C (n.67633+44T>C)
c.94828+44T>C (n.94828+44T>C)
c.89905+44T>C (n.89905+44T>C)
n.446+22920A>G
n.2043+4195A>G
c.93925+44T>C (n.93925+44T>C)
c.67819+44T>C (n.67819+44T>C)
c.67678+44T>C (n.67678+44T>C)
c.93721+44T>C (n.93721+44T>C)
c.89119+44T>C (n.89119+44T>C)
c.89116+44T>C (n.89116+44T>C)
c.86158+44T>C (n.86158+44T>C)
c.67774+44T>C (n.67774+44T>C)
c.89269+44T>C (n.89269+44T>C)
c.89266+44T>C (n.89266+44T>C)
c.88699+44T>C (n.88699+44T>C)
c.86041+44T>C (n.86041+44T>C)
c.85960+44T>C (n.85960+44T>C)
c.67723+44T>C (n.67723+44T>C)
c.57577+44T>C (n.57577+44T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178546558delCA2577170340TTN,TTN-AS1c.87124+44del (n.87124+44del)
c.68209+44del (n.68209+44del)
c.68008+44del (n.68008+44del)
c.67633+44del (n.67633+44del)
c.94828+44del (n.94828+44del)
c.89905+44del (n.89905+44del)
n.446+22922del
n.2043+4197del
c.93925+44del (n.93925+44del)
c.67819+44del (n.67819+44del)
c.67678+44del (n.67678+44del)
c.93721+44del (n.93721+44del)
c.89119+44del (n.89119+44del)
c.89116+44del (n.89116+44del)
c.86158+44del (n.86158+44del)
c.67774+44del (n.67774+44del)
c.89269+44del (n.89269+44del)
c.89266+44del (n.89266+44del)
c.88699+44del (n.88699+44del)
c.86041+44del (n.86041+44del)
c.85960+44del (n.85960+44del)
c.67723+44del (n.67723+44del)
c.57577+44del (n.57577+44del)
2g.178546557A=CA1310523187TTN,TTN-AS1c.87124+43T= (n.87124+43T=)
c.68209+43T= (n.68209+43T=)
c.68008+43T= (n.68008+43T=)
c.67633+43T= (n.67633+43T=)
c.94828+43T= (n.94828+43T=)
c.89905+43T= (n.89905+43T=)
n.446+22921A=
n.2043+4196A=
c.93925+43T= (n.93925+43T=)
c.67819+43T= (n.67819+43T=)
c.67678+43T= (n.67678+43T=)
c.93721+43T= (n.93721+43T=)
c.89119+43T= (n.89119+43T=)
c.89116+43T= (n.89116+43T=)
c.86158+43T= (n.86158+43T=)
c.67774+43T= (n.67774+43T=)
c.89269+43T= (n.89269+43T=)
c.89266+43T= (n.89266+43T=)
c.88699+43T= (n.88699+43T=)
c.86041+43T= (n.86041+43T=)
c.85960+43T= (n.85960+43T=)
c.67723+43T= (n.67723+43T=)
c.57577+43T= (n.57577+43T=)
2g.178546557A>CCA1987069TTN,TTN-AS1c.87124+43T>G (n.87124+43T>G)
c.68209+43T>G (n.68209+43T>G)
c.68008+43T>G (n.68008+43T>G)
c.67633+43T>G (n.67633+43T>G)
c.94828+43T>G (n.94828+43T>G)
c.89905+43T>G (n.89905+43T>G)
n.446+22921A>C
n.2043+4196A>C
c.93925+43T>G (n.93925+43T>G)
c.67819+43T>G (n.67819+43T>G)
c.67678+43T>G (n.67678+43T>G)
c.93721+43T>G (n.93721+43T>G)
c.89119+43T>G (n.89119+43T>G)
c.89116+43T>G (n.89116+43T>G)
c.86158+43T>G (n.86158+43T>G)
c.67774+43T>G (n.67774+43T>G)
c.89269+43T>G (n.89269+43T>G)
c.89266+43T>G (n.89266+43T>G)
c.88699+43T>G (n.88699+43T>G)
c.86041+43T>G (n.86041+43T>G)
c.85960+43T>G (n.85960+43T>G)
c.67723+43T>G (n.67723+43T>G)
c.57577+43T>G (n.57577+43T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546557A>GCA2662126100TTN,TTN-AS1c.87124+43T>C (n.87124+43T>C)
c.68209+43T>C (n.68209+43T>C)
c.68008+43T>C (n.68008+43T>C)
c.67633+43T>C (n.67633+43T>C)
c.94828+43T>C (n.94828+43T>C)
c.89905+43T>C (n.89905+43T>C)
n.446+22921A>G
n.2043+4196A>G
c.93925+43T>C (n.93925+43T>C)
c.67819+43T>C (n.67819+43T>C)
c.67678+43T>C (n.67678+43T>C)
c.93721+43T>C (n.93721+43T>C)
c.89119+43T>C (n.89119+43T>C)
c.89116+43T>C (n.89116+43T>C)
c.86158+43T>C (n.86158+43T>C)
c.67774+43T>C (n.67774+43T>C)
c.89269+43T>C (n.89269+43T>C)
c.89266+43T>C (n.89266+43T>C)
c.88699+43T>C (n.88699+43T>C)
c.86041+43T>C (n.86041+43T>C)
c.85960+43T>C (n.85960+43T>C)
c.67723+43T>C (n.67723+43T>C)
c.57577+43T>C (n.57577+43T>C)
 gnomAD v4
2g.178546558A>GCA2662126105TTN,TTN-AS1c.87124+42T>C (n.87124+42T>C)
c.68209+42T>C (n.68209+42T>C)
c.68008+42T>C (n.68008+42T>C)
c.67633+42T>C (n.67633+42T>C)
c.94828+42T>C (n.94828+42T>C)
c.89905+42T>C (n.89905+42T>C)
n.446+22922A>G
n.2043+4197A>G
c.93925+42T>C (n.93925+42T>C)
c.67819+42T>C (n.67819+42T>C)
c.67678+42T>C (n.67678+42T>C)
c.93721+42T>C (n.93721+42T>C)
c.89119+42T>C (n.89119+42T>C)
c.89116+42T>C (n.89116+42T>C)
c.86158+42T>C (n.86158+42T>C)
c.67774+42T>C (n.67774+42T>C)
c.89269+42T>C (n.89269+42T>C)
c.89266+42T>C (n.89266+42T>C)
c.88699+42T>C (n.88699+42T>C)
c.86041+42T>C (n.86041+42T>C)
c.85960+42T>C (n.85960+42T>C)
c.67723+42T>C (n.67723+42T>C)
c.57577+42T>C (n.57577+42T>C)
 gnomAD v4
2g.178546559T>CCA2662126107TTN,TTN-AS1c.87124+41A>G (n.87124+41A>G)
c.68209+41A>G (n.68209+41A>G)
c.68008+41A>G (n.68008+41A>G)
c.67633+41A>G (n.67633+41A>G)
c.94828+41A>G (n.94828+41A>G)
c.89905+41A>G (n.89905+41A>G)
n.446+22923T>C
n.2043+4198T>C
c.93925+41A>G (n.93925+41A>G)
c.67819+41A>G (n.67819+41A>G)
c.67678+41A>G (n.67678+41A>G)
c.93721+41A>G (n.93721+41A>G)
c.89119+41A>G (n.89119+41A>G)
c.89116+41A>G (n.89116+41A>G)
c.86158+41A>G (n.86158+41A>G)
c.67774+41A>G (n.67774+41A>G)
c.89269+41A>G (n.89269+41A>G)
c.89266+41A>G (n.89266+41A>G)
c.88699+41A>G (n.88699+41A>G)
c.86041+41A>G (n.86041+41A>G)
c.85960+41A>G (n.85960+41A>G)
c.67723+41A>G (n.67723+41A>G)
c.57577+41A>G (n.57577+41A>G)
 gnomAD v4
2g.178546563G>CCA1310523192TTN,TTN-AS1c.87124+37C>G (n.87124+37C>G)
c.68209+37C>G (n.68209+37C>G)
c.68008+37C>G (n.68008+37C>G)
c.67633+37C>G (n.67633+37C>G)
c.94828+37C>G (n.94828+37C>G)
c.89905+37C>G (n.89905+37C>G)
n.446+22927G>C
n.2043+4202G>C
c.93925+37C>G (n.93925+37C>G)
c.67819+37C>G (n.67819+37C>G)
c.67678+37C>G (n.67678+37C>G)
c.93721+37C>G (n.93721+37C>G)
c.89119+37C>G (n.89119+37C>G)
c.89116+37C>G (n.89116+37C>G)
c.86158+37C>G (n.86158+37C>G)
c.67774+37C>G (n.67774+37C>G)
c.89269+37C>G (n.89269+37C>G)
c.89266+37C>G (n.89266+37C>G)
c.88699+37C>G (n.88699+37C>G)
c.86041+37C>G (n.86041+37C>G)
c.85960+37C>G (n.85960+37C>G)
c.67723+37C>G (n.67723+37C>G)
c.57577+37C>G (n.57577+37C>G)
 dbSNP
2g.178546563G=CA1310523190TTN,TTN-AS1c.87124+37C= (n.87124+37C=)
c.68209+37C= (n.68209+37C=)
c.68008+37C= (n.68008+37C=)
c.67633+37C= (n.67633+37C=)
c.94828+37C= (n.94828+37C=)
c.89905+37C= (n.89905+37C=)
n.446+22927G=
n.2043+4202G=
c.93925+37C= (n.93925+37C=)
c.67819+37C= (n.67819+37C=)
c.67678+37C= (n.67678+37C=)
c.93721+37C= (n.93721+37C=)
c.89119+37C= (n.89119+37C=)
c.89116+37C= (n.89116+37C=)
c.86158+37C= (n.86158+37C=)
c.67774+37C= (n.67774+37C=)
c.89269+37C= (n.89269+37C=)
c.89266+37C= (n.89266+37C=)
c.88699+37C= (n.88699+37C=)
c.86041+37C= (n.86041+37C=)
c.85960+37C= (n.85960+37C=)
c.67723+37C= (n.67723+37C=)
c.57577+37C= (n.57577+37C=)
2g.178546564A=CA1310523194TTN,TTN-AS1c.87124+36T= (n.87124+36T=)
c.68209+36T= (n.68209+36T=)
c.68008+36T= (n.68008+36T=)
c.67633+36T= (n.67633+36T=)
c.94828+36T= (n.94828+36T=)
c.89905+36T= (n.89905+36T=)
n.446+22928A=
n.2043+4203A=
c.93925+36T= (n.93925+36T=)
c.67819+36T= (n.67819+36T=)
c.67678+36T= (n.67678+36T=)
c.93721+36T= (n.93721+36T=)
c.89119+36T= (n.89119+36T=)
c.89116+36T= (n.89116+36T=)
c.86158+36T= (n.86158+36T=)
c.67774+36T= (n.67774+36T=)
c.89269+36T= (n.89269+36T=)
c.89266+36T= (n.89266+36T=)
c.88699+36T= (n.88699+36T=)
c.86041+36T= (n.86041+36T=)
c.85960+36T= (n.85960+36T=)
c.67723+36T= (n.67723+36T=)
c.57577+36T= (n.57577+36T=)
2g.178546564A>GCA1987070TTN,TTN-AS1c.87124+36T>C (n.87124+36T>C)
c.68209+36T>C (n.68209+36T>C)
c.68008+36T>C (n.68008+36T>C)
c.67633+36T>C (n.67633+36T>C)
c.94828+36T>C (n.94828+36T>C)
c.89905+36T>C (n.89905+36T>C)
n.446+22928A>G
n.2043+4203A>G
c.93925+36T>C (n.93925+36T>C)
c.67819+36T>C (n.67819+36T>C)
c.67678+36T>C (n.67678+36T>C)
c.93721+36T>C (n.93721+36T>C)
c.89119+36T>C (n.89119+36T>C)
c.89116+36T>C (n.89116+36T>C)
c.86158+36T>C (n.86158+36T>C)
c.67774+36T>C (n.67774+36T>C)
c.89269+36T>C (n.89269+36T>C)
c.89266+36T>C (n.89266+36T>C)
c.88699+36T>C (n.88699+36T>C)
c.86041+36T>C (n.86041+36T>C)
c.85960+36T>C (n.85960+36T>C)
c.67723+36T>C (n.67723+36T>C)
c.57577+36T>C (n.57577+36T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546567A=CA1310523197TTN,TTN-AS1c.87124+33T= (n.87124+33T=)
c.68209+33T= (n.68209+33T=)
c.68008+33T= (n.68008+33T=)
c.67633+33T= (n.67633+33T=)
c.94828+33T= (n.94828+33T=)
c.89905+33T= (n.89905+33T=)
n.446+22931A=
n.2043+4206A=
c.93925+33T= (n.93925+33T=)
c.67819+33T= (n.67819+33T=)
c.67678+33T= (n.67678+33T=)
c.93721+33T= (n.93721+33T=)
c.89119+33T= (n.89119+33T=)
c.89116+33T= (n.89116+33T=)
c.86158+33T= (n.86158+33T=)
c.67774+33T= (n.67774+33T=)
c.89269+33T= (n.89269+33T=)
c.89266+33T= (n.89266+33T=)
c.88699+33T= (n.88699+33T=)
c.86041+33T= (n.86041+33T=)
c.85960+33T= (n.85960+33T=)
c.67723+33T= (n.67723+33T=)
c.57577+33T= (n.57577+33T=)
2g.178546567A>CCA1310523198TTN,TTN-AS1c.87124+33T>G (n.87124+33T>G)
c.68209+33T>G (n.68209+33T>G)
c.68008+33T>G (n.68008+33T>G)
c.67633+33T>G (n.67633+33T>G)
c.94828+33T>G (n.94828+33T>G)
c.89905+33T>G (n.89905+33T>G)
n.446+22931A>C
n.2043+4206A>C
c.93925+33T>G (n.93925+33T>G)
c.67819+33T>G (n.67819+33T>G)
c.67678+33T>G (n.67678+33T>G)
c.93721+33T>G (n.93721+33T>G)
c.89119+33T>G (n.89119+33T>G)
c.89116+33T>G (n.89116+33T>G)
c.86158+33T>G (n.86158+33T>G)
c.67774+33T>G (n.67774+33T>G)
c.89269+33T>G (n.89269+33T>G)
c.89266+33T>G (n.89266+33T>G)
c.88699+33T>G (n.88699+33T>G)
c.86041+33T>G (n.86041+33T>G)
c.85960+33T>G (n.85960+33T>G)
c.67723+33T>G (n.67723+33T>G)
c.57577+33T>G (n.57577+33T>G)
 dbSNP
2g.178546567A>GCA2662126111TTN,TTN-AS1c.87124+33T>C (n.87124+33T>C)
c.68209+33T>C (n.68209+33T>C)
c.68008+33T>C (n.68008+33T>C)
c.67633+33T>C (n.67633+33T>C)
c.94828+33T>C (n.94828+33T>C)
c.89905+33T>C (n.89905+33T>C)
n.446+22931A>G
n.2043+4206A>G
c.93925+33T>C (n.93925+33T>C)
c.67819+33T>C (n.67819+33T>C)
c.67678+33T>C (n.67678+33T>C)
c.93721+33T>C (n.93721+33T>C)
c.89119+33T>C (n.89119+33T>C)
c.89116+33T>C (n.89116+33T>C)
c.86158+33T>C (n.86158+33T>C)
c.67774+33T>C (n.67774+33T>C)
c.89269+33T>C (n.89269+33T>C)
c.89266+33T>C (n.89266+33T>C)
c.88699+33T>C (n.88699+33T>C)
c.86041+33T>C (n.86041+33T>C)
c.85960+33T>C (n.85960+33T>C)
c.67723+33T>C (n.67723+33T>C)
c.57577+33T>C (n.57577+33T>C)
 gnomAD v4
2g.178546568T>CCA1310523202TTN,TTN-AS1c.87124+32A>G (n.87124+32A>G)
c.68209+32A>G (n.68209+32A>G)
c.68008+32A>G (n.68008+32A>G)
c.67633+32A>G (n.67633+32A>G)
c.94828+32A>G (n.94828+32A>G)
c.89905+32A>G (n.89905+32A>G)
n.446+22932T>C
n.2043+4207T>C
c.93925+32A>G (n.93925+32A>G)
c.67819+32A>G (n.67819+32A>G)
c.67678+32A>G (n.67678+32A>G)
c.93721+32A>G (n.93721+32A>G)
c.89119+32A>G (n.89119+32A>G)
c.89116+32A>G (n.89116+32A>G)
c.86158+32A>G (n.86158+32A>G)
c.67774+32A>G (n.67774+32A>G)
c.89269+32A>G (n.89269+32A>G)
c.89266+32A>G (n.89266+32A>G)
c.88699+32A>G (n.88699+32A>G)
c.86041+32A>G (n.86041+32A>G)
c.85960+32A>G (n.85960+32A>G)
c.67723+32A>G (n.67723+32A>G)
c.57577+32A>G (n.57577+32A>G)
 dbSNP
2g.178546568T=CA1310523200TTN,TTN-AS1c.87124+32A= (n.87124+32A=)
c.68209+32A= (n.68209+32A=)
c.68008+32A= (n.68008+32A=)
c.67633+32A= (n.67633+32A=)
c.94828+32A= (n.94828+32A=)
c.89905+32A= (n.89905+32A=)
n.446+22932T=
n.2043+4207T=
c.93925+32A= (n.93925+32A=)
c.67819+32A= (n.67819+32A=)
c.67678+32A= (n.67678+32A=)
c.93721+32A= (n.93721+32A=)
c.89119+32A= (n.89119+32A=)
c.89116+32A= (n.89116+32A=)
c.86158+32A= (n.86158+32A=)
c.67774+32A= (n.67774+32A=)
c.89269+32A= (n.89269+32A=)
c.89266+32A= (n.89266+32A=)
c.88699+32A= (n.88699+32A=)
c.86041+32A= (n.86041+32A=)
c.85960+32A= (n.85960+32A=)
c.67723+32A= (n.67723+32A=)
c.57577+32A= (n.57577+32A=)
2g.178546571T>CCA2577170341TTN,TTN-AS1c.87124+29A>G (n.87124+29A>G)
c.68209+29A>G (n.68209+29A>G)
c.68008+29A>G (n.68008+29A>G)
c.67633+29A>G (n.67633+29A>G)
c.94828+29A>G (n.94828+29A>G)
c.89905+29A>G (n.89905+29A>G)
n.446+22935T>C
n.2043+4210T>C
c.93925+29A>G (n.93925+29A>G)
c.67819+29A>G (n.67819+29A>G)
c.67678+29A>G (n.67678+29A>G)
c.93721+29A>G (n.93721+29A>G)
c.89119+29A>G (n.89119+29A>G)
c.89116+29A>G (n.89116+29A>G)
c.86158+29A>G (n.86158+29A>G)
c.67774+29A>G (n.67774+29A>G)
c.89269+29A>G (n.89269+29A>G)
c.89266+29A>G (n.89266+29A>G)
c.88699+29A>G (n.88699+29A>G)
c.86041+29A>G (n.86041+29A>G)
c.85960+29A>G (n.85960+29A>G)
c.67723+29A>G (n.67723+29A>G)
c.57577+29A>G (n.57577+29A>G)
2g.178546572A>GCA2662126114TTN,TTN-AS1c.87124+28T>C (n.87124+28T>C)
c.68209+28T>C (n.68209+28T>C)
c.68008+28T>C (n.68008+28T>C)
c.67633+28T>C (n.67633+28T>C)
c.94828+28T>C (n.94828+28T>C)
c.89905+28T>C (n.89905+28T>C)
n.446+22936A>G
n.2043+4211A>G
c.93925+28T>C (n.93925+28T>C)
c.67819+28T>C (n.67819+28T>C)
c.67678+28T>C (n.67678+28T>C)
c.93721+28T>C (n.93721+28T>C)
c.89119+28T>C (n.89119+28T>C)
c.89116+28T>C (n.89116+28T>C)
c.86158+28T>C (n.86158+28T>C)
c.67774+28T>C (n.67774+28T>C)
c.89269+28T>C (n.89269+28T>C)
c.89266+28T>C (n.89266+28T>C)
c.88699+28T>C (n.88699+28T>C)
c.86041+28T>C (n.86041+28T>C)
c.85960+28T>C (n.85960+28T>C)
c.67723+28T>C (n.67723+28T>C)
c.57577+28T>C (n.57577+28T>C)
 gnomAD v4
2g.178546572A>TCA2662126117TTN,TTN-AS1c.87124+28T>A (n.87124+28T>A)
c.68209+28T>A (n.68209+28T>A)
c.68008+28T>A (n.68008+28T>A)
c.67633+28T>A (n.67633+28T>A)
c.94828+28T>A (n.94828+28T>A)
c.89905+28T>A (n.89905+28T>A)
n.446+22936A>T
n.2043+4211A>T
c.93925+28T>A (n.93925+28T>A)
c.67819+28T>A (n.67819+28T>A)
c.67678+28T>A (n.67678+28T>A)
c.93721+28T>A (n.93721+28T>A)
c.89119+28T>A (n.89119+28T>A)
c.89116+28T>A (n.89116+28T>A)
c.86158+28T>A (n.86158+28T>A)
c.67774+28T>A (n.67774+28T>A)
c.89269+28T>A (n.89269+28T>A)
c.89266+28T>A (n.89266+28T>A)
c.88699+28T>A (n.88699+28T>A)
c.86041+28T>A (n.86041+28T>A)
c.85960+28T>A (n.85960+28T>A)
c.67723+28T>A (n.67723+28T>A)
c.57577+28T>A (n.57577+28T>A)
 gnomAD v4
2g.178546573A=CA1310523204TTN,TTN-AS1c.87124+27T= (n.87124+27T=)
c.68209+27T= (n.68209+27T=)
c.68008+27T= (n.68008+27T=)
c.67633+27T= (n.67633+27T=)
c.94828+27T= (n.94828+27T=)
c.89905+27T= (n.89905+27T=)
n.446+22937A=
n.2043+4212A=
c.93925+27T= (n.93925+27T=)
c.67819+27T= (n.67819+27T=)
c.67678+27T= (n.67678+27T=)
c.93721+27T= (n.93721+27T=)
c.89119+27T= (n.89119+27T=)
c.89116+27T= (n.89116+27T=)
c.86158+27T= (n.86158+27T=)
c.67774+27T= (n.67774+27T=)
c.89269+27T= (n.89269+27T=)
c.89266+27T= (n.89266+27T=)
c.88699+27T= (n.88699+27T=)
c.86041+27T= (n.86041+27T=)
c.85960+27T= (n.85960+27T=)
c.67723+27T= (n.67723+27T=)
c.57577+27T= (n.57577+27T=)
2g.178546573A>GCA1987071TTN,TTN-AS1c.87124+27T>C (n.87124+27T>C)
c.68209+27T>C (n.68209+27T>C)
c.68008+27T>C (n.68008+27T>C)
c.67633+27T>C (n.67633+27T>C)
c.94828+27T>C (n.94828+27T>C)
c.89905+27T>C (n.89905+27T>C)
n.446+22937A>G
n.2043+4212A>G
c.93925+27T>C (n.93925+27T>C)
c.67819+27T>C (n.67819+27T>C)
c.67678+27T>C (n.67678+27T>C)
c.93721+27T>C (n.93721+27T>C)
c.89119+27T>C (n.89119+27T>C)
c.89116+27T>C (n.89116+27T>C)
c.86158+27T>C (n.86158+27T>C)
c.67774+27T>C (n.67774+27T>C)
c.89269+27T>C (n.89269+27T>C)
c.89266+27T>C (n.89266+27T>C)
c.88699+27T>C (n.88699+27T>C)
c.86041+27T>C (n.86041+27T>C)
c.85960+27T>C (n.85960+27T>C)
c.67723+27T>C (n.67723+27T>C)
c.57577+27T>C (n.57577+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546577G>CCA1987072TTN,TTN-AS1c.87124+23C>G (n.87124+23C>G)
c.68209+23C>G (n.68209+23C>G)
c.68008+23C>G (n.68008+23C>G)
c.67633+23C>G (n.67633+23C>G)
c.94828+23C>G (n.94828+23C>G)
c.89905+23C>G (n.89905+23C>G)
n.446+22941G>C
n.2043+4216G>C
c.93925+23C>G (n.93925+23C>G)
c.67819+23C>G (n.67819+23C>G)
c.67678+23C>G (n.67678+23C>G)
c.93721+23C>G (n.93721+23C>G)
c.89119+23C>G (n.89119+23C>G)
c.89116+23C>G (n.89116+23C>G)
c.86158+23C>G (n.86158+23C>G)
c.67774+23C>G (n.67774+23C>G)
c.89269+23C>G (n.89269+23C>G)
c.89266+23C>G (n.89266+23C>G)
c.88699+23C>G (n.88699+23C>G)
c.86041+23C>G (n.86041+23C>G)
c.85960+23C>G (n.85960+23C>G)
c.67723+23C>G (n.67723+23C>G)
c.57577+23C>G (n.57577+23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546577G=CA1310523207TTN,TTN-AS1c.87124+23C= (n.87124+23C=)
c.68209+23C= (n.68209+23C=)
c.68008+23C= (n.68008+23C=)
c.67633+23C= (n.67633+23C=)
c.94828+23C= (n.94828+23C=)
c.89905+23C= (n.89905+23C=)
n.446+22941G=
n.2043+4216G=
c.93925+23C= (n.93925+23C=)
c.67819+23C= (n.67819+23C=)
c.67678+23C= (n.67678+23C=)
c.93721+23C= (n.93721+23C=)
c.89119+23C= (n.89119+23C=)
c.89116+23C= (n.89116+23C=)
c.86158+23C= (n.86158+23C=)
c.67774+23C= (n.67774+23C=)
c.89269+23C= (n.89269+23C=)
c.89266+23C= (n.89266+23C=)
c.88699+23C= (n.88699+23C=)
c.86041+23C= (n.86041+23C=)
c.85960+23C= (n.85960+23C=)
c.67723+23C= (n.67723+23C=)
c.57577+23C= (n.57577+23C=)
2g.178546578G=CA1310523209TTN,TTN-AS1c.87124+22C= (n.87124+22C=)
c.68209+22C= (n.68209+22C=)
c.68008+22C= (n.68008+22C=)
c.67633+22C= (n.67633+22C=)
c.94828+22C= (n.94828+22C=)
c.89905+22C= (n.89905+22C=)
n.446+22942G=
n.2043+4217G=
c.93925+22C= (n.93925+22C=)
c.67819+22C= (n.67819+22C=)
c.67678+22C= (n.67678+22C=)
c.93721+22C= (n.93721+22C=)
c.89119+22C= (n.89119+22C=)
c.89116+22C= (n.89116+22C=)
c.86158+22C= (n.86158+22C=)
c.67774+22C= (n.67774+22C=)
c.89269+22C= (n.89269+22C=)
c.89266+22C= (n.89266+22C=)
c.88699+22C= (n.88699+22C=)
c.86041+22C= (n.86041+22C=)
c.85960+22C= (n.85960+22C=)
c.67723+22C= (n.67723+22C=)
c.57577+22C= (n.57577+22C=)
2g.178546578G>TCA1039708227TTN,TTN-AS1c.87124+22C>A (n.87124+22C>A)
c.68209+22C>A (n.68209+22C>A)
c.68008+22C>A (n.68008+22C>A)
c.67633+22C>A (n.67633+22C>A)
c.94828+22C>A (n.94828+22C>A)
c.89905+22C>A (n.89905+22C>A)
n.446+22942G>T
n.2043+4217G>T
c.93925+22C>A (n.93925+22C>A)
c.67819+22C>A (n.67819+22C>A)
c.67678+22C>A (n.67678+22C>A)
c.93721+22C>A (n.93721+22C>A)
c.89119+22C>A (n.89119+22C>A)
c.89116+22C>A (n.89116+22C>A)
c.86158+22C>A (n.86158+22C>A)
c.67774+22C>A (n.67774+22C>A)
c.89269+22C>A (n.89269+22C>A)
c.89266+22C>A (n.89266+22C>A)
c.88699+22C>A (n.88699+22C>A)
c.86041+22C>A (n.86041+22C>A)
c.85960+22C>A (n.85960+22C>A)
c.67723+22C>A (n.67723+22C>A)
c.57577+22C>A (n.57577+22C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.178546579A>GCA2662126130TTN,TTN-AS1c.87124+21T>C (n.87124+21T>C)
c.68209+21T>C (n.68209+21T>C)
c.68008+21T>C (n.68008+21T>C)
c.67633+21T>C (n.67633+21T>C)
c.94828+21T>C (n.94828+21T>C)
c.89905+21T>C (n.89905+21T>C)
n.446+22943A>G
n.2043+4218A>G
c.93925+21T>C (n.93925+21T>C)
c.67819+21T>C (n.67819+21T>C)
c.67678+21T>C (n.67678+21T>C)
c.93721+21T>C (n.93721+21T>C)
c.89119+21T>C (n.89119+21T>C)
c.89116+21T>C (n.89116+21T>C)
c.86158+21T>C (n.86158+21T>C)
c.67774+21T>C (n.67774+21T>C)
c.89269+21T>C (n.89269+21T>C)
c.89266+21T>C (n.89266+21T>C)
c.88699+21T>C (n.88699+21T>C)
c.86041+21T>C (n.86041+21T>C)
c.85960+21T>C (n.85960+21T>C)
c.67723+21T>C (n.67723+21T>C)
c.57577+21T>C (n.57577+21T>C)
 gnomAD v4
2g.178546580G>CCA2662126134TTN,TTN-AS1c.87124+20C>G (n.87124+20C>G)
c.68209+20C>G (n.68209+20C>G)
c.68008+20C>G (n.68008+20C>G)
c.67633+20C>G (n.67633+20C>G)
c.94828+20C>G (n.94828+20C>G)
c.89905+20C>G (n.89905+20C>G)
n.446+22944G>C
n.2043+4219G>C
c.93925+20C>G (n.93925+20C>G)
c.67819+20C>G (n.67819+20C>G)
c.67678+20C>G (n.67678+20C>G)
c.93721+20C>G (n.93721+20C>G)
c.89119+20C>G (n.89119+20C>G)
c.89116+20C>G (n.89116+20C>G)
c.86158+20C>G (n.86158+20C>G)
c.67774+20C>G (n.67774+20C>G)
c.89269+20C>G (n.89269+20C>G)
c.89266+20C>G (n.89266+20C>G)
c.88699+20C>G (n.88699+20C>G)
c.86041+20C>G (n.86041+20C>G)
c.85960+20C>G (n.85960+20C>G)
c.67723+20C>G (n.67723+20C>G)
c.57577+20C>G (n.57577+20C>G)
 gnomAD v4
2g.178546581A=CA1310523210TTN,TTN-AS1c.87124+19T= (n.87124+19T=)
c.68209+19T= (n.68209+19T=)
c.68008+19T= (n.68008+19T=)
c.67633+19T= (n.67633+19T=)
c.94828+19T= (n.94828+19T=)
c.89905+19T= (n.89905+19T=)
n.446+22945A=
n.2043+4220A=
c.93925+19T= (n.93925+19T=)
c.67819+19T= (n.67819+19T=)
c.67678+19T= (n.67678+19T=)
c.93721+19T= (n.93721+19T=)
c.89119+19T= (n.89119+19T=)
c.89116+19T= (n.89116+19T=)
c.86158+19T= (n.86158+19T=)
c.67774+19T= (n.67774+19T=)
c.89269+19T= (n.89269+19T=)
c.89266+19T= (n.89266+19T=)
c.88699+19T= (n.88699+19T=)
c.86041+19T= (n.86041+19T=)
c.85960+19T= (n.85960+19T=)
c.67723+19T= (n.67723+19T=)
c.57577+19T= (n.57577+19T=)
2g.178546581A>GCA538435119TTN,TTN-AS1c.87124+19T>C (n.87124+19T>C)
c.68209+19T>C (n.68209+19T>C)
c.68008+19T>C (n.68008+19T>C)
c.67633+19T>C (n.67633+19T>C)
c.94828+19T>C (n.94828+19T>C)
c.89905+19T>C (n.89905+19T>C)
n.446+22945A>G
n.2043+4220A>G
c.93925+19T>C (n.93925+19T>C)
c.67819+19T>C (n.67819+19T>C)
c.67678+19T>C (n.67678+19T>C)
c.93721+19T>C (n.93721+19T>C)
c.89119+19T>C (n.89119+19T>C)
c.89116+19T>C (n.89116+19T>C)
c.86158+19T>C (n.86158+19T>C)
c.67774+19T>C (n.67774+19T>C)
c.89269+19T>C (n.89269+19T>C)
c.89266+19T>C (n.89266+19T>C)
c.88699+19T>C (n.88699+19T>C)
c.86041+19T>C (n.86041+19T>C)
c.85960+19T>C (n.85960+19T>C)
c.67723+19T>C (n.67723+19T>C)
c.57577+19T>C (n.57577+19T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178546582A>TCA2753330810TTN,TTN-AS1c.87124+18T>A (n.87124+18T>A)
c.68209+18T>A (n.68209+18T>A)
c.68008+18T>A (n.68008+18T>A)
c.67633+18T>A (n.67633+18T>A)
c.94828+18T>A (n.94828+18T>A)
c.89905+18T>A (n.89905+18T>A)
n.446+22946A>T
n.2043+4221A>T
c.93925+18T>A (n.93925+18T>A)
c.67819+18T>A (n.67819+18T>A)
c.67678+18T>A (n.67678+18T>A)
c.93721+18T>A (n.93721+18T>A)
c.89119+18T>A (n.89119+18T>A)
c.89116+18T>A (n.89116+18T>A)
c.86158+18T>A (n.86158+18T>A)
c.67774+18T>A (n.67774+18T>A)
c.89269+18T>A (n.89269+18T>A)
c.89266+18T>A (n.89266+18T>A)
c.88699+18T>A (n.88699+18T>A)
c.86041+18T>A (n.86041+18T>A)
c.85960+18T>A (n.85960+18T>A)
c.67723+18T>A (n.67723+18T>A)
c.57577+18T>A (n.57577+18T>A)
2g.178546583T>CCA16603983TTN,TTN-AS1c.87124+17A>G (n.87124+17A>G)
c.68209+17A>G (n.68209+17A>G)
c.68008+17A>G (n.68008+17A>G)
c.67633+17A>G (n.67633+17A>G)
c.94828+17A>G (n.94828+17A>G)
c.89905+17A>G (n.89905+17A>G)
n.446+22947T>C
n.2043+4222T>C
c.93925+17A>G (n.93925+17A>G)
c.67819+17A>G (n.67819+17A>G)
c.67678+17A>G (n.67678+17A>G)
c.93721+17A>G (n.93721+17A>G)
c.89119+17A>G (n.89119+17A>G)
c.89116+17A>G (n.89116+17A>G)
c.86158+17A>G (n.86158+17A>G)
c.67774+17A>G (n.67774+17A>G)
c.89269+17A>G (n.89269+17A>G)
c.89266+17A>G (n.89266+17A>G)
c.88699+17A>G (n.88699+17A>G)
c.86041+17A>G (n.86041+17A>G)
c.85960+17A>G (n.85960+17A>G)
c.67723+17A>G (n.67723+17A>G)
c.57577+17A>G (n.57577+17A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546583T>GCA2740095977TTN,TTN-AS1c.87124+17A>C (n.87124+17A>C)
c.68209+17A>C (n.68209+17A>C)
c.68008+17A>C (n.68008+17A>C)
c.67633+17A>C (n.67633+17A>C)
c.94828+17A>C (n.94828+17A>C)
c.89905+17A>C (n.89905+17A>C)
n.446+22947T>G
n.2043+4222T>G
c.93925+17A>C (n.93925+17A>C)
c.67819+17A>C (n.67819+17A>C)
c.67678+17A>C (n.67678+17A>C)
c.93721+17A>C (n.93721+17A>C)
c.89119+17A>C (n.89119+17A>C)
c.89116+17A>C (n.89116+17A>C)
c.86158+17A>C (n.86158+17A>C)
c.67774+17A>C (n.67774+17A>C)
c.89269+17A>C (n.89269+17A>C)
c.89266+17A>C (n.89266+17A>C)
c.88699+17A>C (n.88699+17A>C)
c.86041+17A>C (n.86041+17A>C)
c.85960+17A>C (n.85960+17A>C)
c.67723+17A>C (n.67723+17A>C)
c.57577+17A>C (n.57577+17A>C)
 ClinVar
2g.178546583T=CA1310523214TTN,TTN-AS1c.87124+17A= (n.87124+17A=)
c.68209+17A= (n.68209+17A=)
c.68008+17A= (n.68008+17A=)
c.67633+17A= (n.67633+17A=)
c.94828+17A= (n.94828+17A=)
c.89905+17A= (n.89905+17A=)
n.446+22947T=
n.2043+4222T=
c.93925+17A= (n.93925+17A=)
c.67819+17A= (n.67819+17A=)
c.67678+17A= (n.67678+17A=)
c.93721+17A= (n.93721+17A=)
c.89119+17A= (n.89119+17A=)
c.89116+17A= (n.89116+17A=)
c.86158+17A= (n.86158+17A=)
c.67774+17A= (n.67774+17A=)
c.89269+17A= (n.89269+17A=)
c.89266+17A= (n.89266+17A=)
c.88699+17A= (n.88699+17A=)
c.86041+17A= (n.86041+17A=)
c.85960+17A= (n.85960+17A=)
c.67723+17A= (n.67723+17A=)
c.57577+17A= (n.57577+17A=)
2g.178546584G>ACA60972450TTN,TTN-AS1c.87124+16C>T (n.87124+16C>T)
c.68209+16C>T (n.68209+16C>T)
c.68008+16C>T (n.68008+16C>T)
c.67633+16C>T (n.67633+16C>T)
c.94828+16C>T (n.94828+16C>T)
c.89905+16C>T (n.89905+16C>T)
n.446+22948G>A
n.2043+4223G>A
c.93925+16C>T (n.93925+16C>T)
c.67819+16C>T (n.67819+16C>T)
c.67678+16C>T (n.67678+16C>T)
c.93721+16C>T (n.93721+16C>T)
c.89119+16C>T (n.89119+16C>T)
c.89116+16C>T (n.89116+16C>T)
c.86158+16C>T (n.86158+16C>T)
c.67774+16C>T (n.67774+16C>T)
c.89269+16C>T (n.89269+16C>T)
c.89266+16C>T (n.89266+16C>T)
c.88699+16C>T (n.88699+16C>T)
c.86041+16C>T (n.86041+16C>T)
c.85960+16C>T (n.85960+16C>T)
c.67723+16C>T (n.67723+16C>T)
c.57577+16C>T (n.57577+16C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546584G=CA1310523217TTN,TTN-AS1c.87124+16C= (n.87124+16C=)
c.68209+16C= (n.68209+16C=)
c.68008+16C= (n.68008+16C=)
c.67633+16C= (n.67633+16C=)
c.94828+16C= (n.94828+16C=)
c.89905+16C= (n.89905+16C=)
n.446+22948G=
n.2043+4223G=
c.93925+16C= (n.93925+16C=)
c.67819+16C= (n.67819+16C=)
c.67678+16C= (n.67678+16C=)
c.93721+16C= (n.93721+16C=)
c.89119+16C= (n.89119+16C=)
c.89116+16C= (n.89116+16C=)
c.86158+16C= (n.86158+16C=)
c.67774+16C= (n.67774+16C=)
c.89269+16C= (n.89269+16C=)
c.89266+16C= (n.89266+16C=)
c.88699+16C= (n.88699+16C=)
c.86041+16C= (n.86041+16C=)
c.85960+16C= (n.85960+16C=)
c.67723+16C= (n.67723+16C=)
c.57577+16C= (n.57577+16C=)
2g.178546585T>CCA2740345981TTN,TTN-AS1c.87124+15A>G (n.87124+15A>G)
c.68209+15A>G (n.68209+15A>G)
c.68008+15A>G (n.68008+15A>G)
c.67633+15A>G (n.67633+15A>G)
c.94828+15A>G (n.94828+15A>G)
c.89905+15A>G (n.89905+15A>G)
n.446+22949T>C
n.2043+4224T>C
c.93925+15A>G (n.93925+15A>G)
c.67819+15A>G (n.67819+15A>G)
c.67678+15A>G (n.67678+15A>G)
c.93721+15A>G (n.93721+15A>G)
c.89119+15A>G (n.89119+15A>G)
c.89116+15A>G (n.89116+15A>G)
c.86158+15A>G (n.86158+15A>G)
c.67774+15A>G (n.67774+15A>G)
c.89269+15A>G (n.89269+15A>G)
c.89266+15A>G (n.89266+15A>G)
c.88699+15A>G (n.88699+15A>G)
c.86041+15A>G (n.86041+15A>G)
c.85960+15A>G (n.85960+15A>G)
c.67723+15A>G (n.67723+15A>G)
c.57577+15A>G (n.57577+15A>G)
2g.178546586delCA2753330817TTN,TTN-AS1c.87124+15del (n.87124+15del)
c.68209+15del (n.68209+15del)
c.68008+15del (n.68008+15del)
c.67633+15del (n.67633+15del)
c.94828+15del (n.94828+15del)
c.89905+15del (n.89905+15del)
n.446+22950del
n.2043+4225del
c.93925+15del (n.93925+15del)
c.67819+15del (n.67819+15del)
c.67678+15del (n.67678+15del)
c.93721+15del (n.93721+15del)
c.89119+15del (n.89119+15del)
c.89116+15del (n.89116+15del)
c.86158+15del (n.86158+15del)
c.67774+15del (n.67774+15del)
c.89269+15del (n.89269+15del)
c.89266+15del (n.89266+15del)
c.88699+15del (n.88699+15del)
c.86041+15del (n.86041+15del)
c.85960+15del (n.85960+15del)
c.67723+15del (n.67723+15del)
c.57577+15del (n.57577+15del)
2g.178546589C>ACA538435120TTN,TTN-AS1c.87124+11G>T (n.87124+11G>T)
c.68209+11G>T (n.68209+11G>T)
c.68008+11G>T (n.68008+11G>T)
c.67633+11G>T (n.67633+11G>T)
c.94828+11G>T (n.94828+11G>T)
c.89905+11G>T (n.89905+11G>T)
n.446+22953C>A
n.2043+4228C>A
c.93925+11G>T (n.93925+11G>T)
c.67819+11G>T (n.67819+11G>T)
c.67678+11G>T (n.67678+11G>T)
c.93721+11G>T (n.93721+11G>T)
c.89119+11G>T (n.89119+11G>T)
c.89116+11G>T (n.89116+11G>T)
c.86158+11G>T (n.86158+11G>T)
c.67774+11G>T (n.67774+11G>T)
c.89269+11G>T (n.89269+11G>T)
c.89266+11G>T (n.89266+11G>T)
c.88699+11G>T (n.88699+11G>T)
c.86041+11G>T (n.86041+11G>T)
c.85960+11G>T (n.85960+11G>T)
c.67723+11G>T (n.67723+11G>T)
c.57577+11G>T (n.57577+11G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546589C=CA1310523220TTN,TTN-AS1c.87124+11G= (n.87124+11G=)
c.68209+11G= (n.68209+11G=)
c.68008+11G= (n.68008+11G=)
c.67633+11G= (n.67633+11G=)
c.94828+11G= (n.94828+11G=)
c.89905+11G= (n.89905+11G=)
n.446+22953C=
n.2043+4228C=
c.93925+11G= (n.93925+11G=)
c.67819+11G= (n.67819+11G=)
c.67678+11G= (n.67678+11G=)
c.93721+11G= (n.93721+11G=)
c.89119+11G= (n.89119+11G=)
c.89116+11G= (n.89116+11G=)
c.86158+11G= (n.86158+11G=)
c.67774+11G= (n.67774+11G=)
c.89269+11G= (n.89269+11G=)
c.89266+11G= (n.89266+11G=)
c.88699+11G= (n.88699+11G=)
c.86041+11G= (n.86041+11G=)
c.85960+11G= (n.85960+11G=)
c.67723+11G= (n.67723+11G=)
c.57577+11G= (n.57577+11G=)
2g.178546589C>TCA1310523221TTN,TTN-AS1c.87124+11G>A (n.87124+11G>A)
c.68209+11G>A (n.68209+11G>A)
c.68008+11G>A (n.68008+11G>A)
c.67633+11G>A (n.67633+11G>A)
c.94828+11G>A (n.94828+11G>A)
c.89905+11G>A (n.89905+11G>A)
n.446+22953C>T
n.2043+4228C>T
c.93925+11G>A (n.93925+11G>A)
c.67819+11G>A (n.67819+11G>A)
c.67678+11G>A (n.67678+11G>A)
c.93721+11G>A (n.93721+11G>A)
c.89119+11G>A (n.89119+11G>A)
c.89116+11G>A (n.89116+11G>A)
c.86158+11G>A (n.86158+11G>A)
c.67774+11G>A (n.67774+11G>A)
c.89269+11G>A (n.89269+11G>A)
c.89266+11G>A (n.89266+11G>A)
c.88699+11G>A (n.88699+11G>A)
c.86041+11G>A (n.86041+11G>A)
c.85960+11G>A (n.85960+11G>A)
c.67723+11G>A (n.67723+11G>A)
c.57577+11G>A (n.57577+11G>A)
 dbSNP
2g.178546590T>CCA60972451TTN,TTN-AS1c.87124+10A>G (n.87124+10A>G)
c.68209+10A>G (n.68209+10A>G)
c.68008+10A>G (n.68008+10A>G)
c.67633+10A>G (n.67633+10A>G)
c.94828+10A>G (n.94828+10A>G)
c.89905+10A>G (n.89905+10A>G)
n.446+22954T>C
n.2043+4229T>C
c.93925+10A>G (n.93925+10A>G)
c.67819+10A>G (n.67819+10A>G)
c.67678+10A>G (n.67678+10A>G)
c.93721+10A>G (n.93721+10A>G)
c.89119+10A>G (n.89119+10A>G)
c.89116+10A>G (n.89116+10A>G)
c.86158+10A>G (n.86158+10A>G)
c.67774+10A>G (n.67774+10A>G)
c.89269+10A>G (n.89269+10A>G)
c.89266+10A>G (n.89266+10A>G)
c.88699+10A>G (n.88699+10A>G)
c.86041+10A>G (n.86041+10A>G)
c.85960+10A>G (n.85960+10A>G)
c.67723+10A>G (n.67723+10A>G)
c.57577+10A>G (n.57577+10A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546590T=CA1310523222TTN,TTN-AS1c.87124+10A= (n.87124+10A=)
c.68209+10A= (n.68209+10A=)
c.68008+10A= (n.68008+10A=)
c.67633+10A= (n.67633+10A=)
c.94828+10A= (n.94828+10A=)
c.89905+10A= (n.89905+10A=)
n.446+22954T=
n.2043+4229T=
c.93925+10A= (n.93925+10A=)
c.67819+10A= (n.67819+10A=)
c.67678+10A= (n.67678+10A=)
c.93721+10A= (n.93721+10A=)
c.89119+10A= (n.89119+10A=)
c.89116+10A= (n.89116+10A=)
c.86158+10A= (n.86158+10A=)
c.67774+10A= (n.67774+10A=)
c.89269+10A= (n.89269+10A=)
c.89266+10A= (n.89266+10A=)
c.88699+10A= (n.88699+10A=)
c.86041+10A= (n.86041+10A=)
c.85960+10A= (n.85960+10A=)
c.67723+10A= (n.67723+10A=)
c.57577+10A= (n.57577+10A=)
2g.178546591A=CA1310523223TTN,TTN-AS1c.87124+9T= (n.87124+9T=)
c.68209+9T= (n.68209+9T=)
c.68008+9T= (n.68008+9T=)
c.67633+9T= (n.67633+9T=)
c.94828+9T= (n.94828+9T=)
c.89905+9T= (n.89905+9T=)
n.446+22955A=
n.2043+4230A=
c.93925+9T= (n.93925+9T=)
c.67819+9T= (n.67819+9T=)
c.67678+9T= (n.67678+9T=)
c.93721+9T= (n.93721+9T=)
c.89119+9T= (n.89119+9T=)
c.89116+9T= (n.89116+9T=)
c.86158+9T= (n.86158+9T=)
c.67774+9T= (n.67774+9T=)
c.89269+9T= (n.89269+9T=)
c.89266+9T= (n.89266+9T=)
c.88699+9T= (n.88699+9T=)
c.86041+9T= (n.86041+9T=)
c.85960+9T= (n.85960+9T=)
c.67723+9T= (n.67723+9T=)
c.57577+9T= (n.57577+9T=)
2g.178546591A>GCA761283445TTN,TTN-AS1c.87124+9T>C (n.87124+9T>C)
c.68209+9T>C (n.68209+9T>C)
c.68008+9T>C (n.68008+9T>C)
c.67633+9T>C (n.67633+9T>C)
c.94828+9T>C (n.94828+9T>C)
c.89905+9T>C (n.89905+9T>C)
n.446+22955A>G
n.2043+4230A>G
c.93925+9T>C (n.93925+9T>C)
c.67819+9T>C (n.67819+9T>C)
c.67678+9T>C (n.67678+9T>C)
c.93721+9T>C (n.93721+9T>C)
c.89119+9T>C (n.89119+9T>C)
c.89116+9T>C (n.89116+9T>C)
c.86158+9T>C (n.86158+9T>C)
c.67774+9T>C (n.67774+9T>C)
c.89269+9T>C (n.89269+9T>C)
c.89266+9T>C (n.89266+9T>C)
c.88699+9T>C (n.88699+9T>C)
c.86041+9T>C (n.86041+9T>C)
c.85960+9T>C (n.85960+9T>C)
c.67723+9T>C (n.67723+9T>C)
c.57577+9T>C (n.57577+9T>C)
 ClinVar dbSNP
2g.178546594T>GCA658795980TTN,TTN-AS1c.87124+6A>C (n.87124+6A>C)
c.68209+6A>C (n.68209+6A>C)
c.68008+6A>C (n.68008+6A>C)
c.67633+6A>C (n.67633+6A>C)
c.94828+6A>C (n.94828+6A>C)
c.89905+6A>C (n.89905+6A>C)
n.446+22958T>G
n.2043+4233T>G
c.93925+6A>C (n.93925+6A>C)
c.67819+6A>C (n.67819+6A>C)
c.67678+6A>C (n.67678+6A>C)
c.93721+6A>C (n.93721+6A>C)
c.89119+6A>C (n.89119+6A>C)
c.89116+6A>C (n.89116+6A>C)
c.86158+6A>C (n.86158+6A>C)
c.67774+6A>C (n.67774+6A>C)
c.89269+6A>C (n.89269+6A>C)
c.89266+6A>C (n.89266+6A>C)
c.88699+6A>C (n.88699+6A>C)
c.86041+6A>C (n.86041+6A>C)
c.85960+6A>C (n.85960+6A>C)
c.67723+6A>C (n.67723+6A>C)
c.57577+6A>C (n.57577+6A>C)
 ClinVar dbSNP
2g.178546594T=CA1310523225TTN,TTN-AS1c.87124+6A= (n.87124+6A=)
c.68209+6A= (n.68209+6A=)
c.68008+6A= (n.68008+6A=)
c.67633+6A= (n.67633+6A=)
c.94828+6A= (n.94828+6A=)
c.89905+6A= (n.89905+6A=)
n.446+22958T=
n.2043+4233T=
c.93925+6A= (n.93925+6A=)
c.67819+6A= (n.67819+6A=)
c.67678+6A= (n.67678+6A=)
c.93721+6A= (n.93721+6A=)
c.89119+6A= (n.89119+6A=)
c.89116+6A= (n.89116+6A=)
c.86158+6A= (n.86158+6A=)
c.67774+6A= (n.67774+6A=)
c.89269+6A= (n.89269+6A=)
c.89266+6A= (n.89266+6A=)
c.88699+6A= (n.88699+6A=)
c.86041+6A= (n.86041+6A=)
c.85960+6A= (n.85960+6A=)
c.67723+6A= (n.67723+6A=)
c.57577+6A= (n.57577+6A=)
2g.178546595C>TCA2662126147TTN,TTN-AS1c.87124+5G>A (n.87124+5G>A)
c.68209+5G>A (n.68209+5G>A)
c.68008+5G>A (n.68008+5G>A)
c.67633+5G>A (n.67633+5G>A)
c.94828+5G>A (n.94828+5G>A)
c.89905+5G>A (n.89905+5G>A)
n.446+22959C>T
n.2043+4234C>T
c.93925+5G>A (n.93925+5G>A)
c.67819+5G>A (n.67819+5G>A)
c.67678+5G>A (n.67678+5G>A)
c.93721+5G>A (n.93721+5G>A)
c.89119+5G>A (n.89119+5G>A)
c.89116+5G>A (n.89116+5G>A)
c.86158+5G>A (n.86158+5G>A)
c.67774+5G>A (n.67774+5G>A)
c.89269+5G>A (n.89269+5G>A)
c.89266+5G>A (n.89266+5G>A)
c.88699+5G>A (n.88699+5G>A)
c.86041+5G>A (n.86041+5G>A)
c.85960+5G>A (n.85960+5G>A)
c.67723+5G>A (n.67723+5G>A)
c.57577+5G>A (n.57577+5G>A)
 gnomAD v4
2g.178546596C>ACA538435121TTN,TTN-AS1c.87124+4G>T (n.87124+4G>T)
c.68209+4G>T (n.68209+4G>T)
c.68008+4G>T (n.68008+4G>T)
c.67633+4G>T (n.67633+4G>T)
c.94828+4G>T (n.94828+4G>T)
c.89905+4G>T (n.89905+4G>T)
n.446+22960C>A
n.2043+4235C>A
c.93925+4G>T (n.93925+4G>T)
c.67819+4G>T (n.67819+4G>T)
c.67678+4G>T (n.67678+4G>T)
c.93721+4G>T (n.93721+4G>T)
c.89119+4G>T (n.89119+4G>T)
c.89116+4G>T (n.89116+4G>T)
c.86158+4G>T (n.86158+4G>T)
c.67774+4G>T (n.67774+4G>T)
c.89269+4G>T (n.89269+4G>T)
c.89266+4G>T (n.89266+4G>T)
c.88699+4G>T (n.88699+4G>T)
c.86041+4G>T (n.86041+4G>T)
c.85960+4G>T (n.85960+4G>T)
c.67723+4G>T (n.67723+4G>T)
c.57577+4G>T (n.57577+4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546596C=CA1310523227TTN,TTN-AS1c.87124+4G= (n.87124+4G=)
c.68209+4G= (n.68209+4G=)
c.68008+4G= (n.68008+4G=)
c.67633+4G= (n.67633+4G=)
c.94828+4G= (n.94828+4G=)
c.89905+4G= (n.89905+4G=)
n.446+22960C=
n.2043+4235C=
c.93925+4G= (n.93925+4G=)
c.67819+4G= (n.67819+4G=)
c.67678+4G= (n.67678+4G=)
c.93721+4G= (n.93721+4G=)
c.89119+4G= (n.89119+4G=)
c.89116+4G= (n.89116+4G=)
c.86158+4G= (n.86158+4G=)
c.67774+4G= (n.67774+4G=)
c.89269+4G= (n.89269+4G=)
c.89266+4G= (n.89266+4G=)
c.88699+4G= (n.88699+4G=)
c.86041+4G= (n.86041+4G=)
c.85960+4G= (n.85960+4G=)
c.67723+4G= (n.67723+4G=)
c.57577+4G= (n.57577+4G=)
2g.178546596C>TCA2577170344TTN,TTN-AS1c.87124+4G>A (n.87124+4G>A)
c.68209+4G>A (n.68209+4G>A)
c.68008+4G>A (n.68008+4G>A)
c.67633+4G>A (n.67633+4G>A)
c.94828+4G>A (n.94828+4G>A)
c.89905+4G>A (n.89905+4G>A)
n.446+22960C>T
n.2043+4235C>T
c.93925+4G>A (n.93925+4G>A)
c.67819+4G>A (n.67819+4G>A)
c.67678+4G>A (n.67678+4G>A)
c.93721+4G>A (n.93721+4G>A)
c.89119+4G>A (n.89119+4G>A)
c.89116+4G>A (n.89116+4G>A)
c.86158+4G>A (n.86158+4G>A)
c.67774+4G>A (n.67774+4G>A)
c.89269+4G>A (n.89269+4G>A)
c.89266+4G>A (n.89266+4G>A)
c.88699+4G>A (n.88699+4G>A)
c.86041+4G>A (n.86041+4G>A)
c.85960+4G>A (n.85960+4G>A)
c.67723+4G>A (n.67723+4G>A)
c.57577+4G>A (n.57577+4G>A)
 gnomAD v4
2g.178546598A>CCA349469817TTN,TTN-AS1c.87124+2T>G (n.87124+2T>G)
c.68209+2T>G (n.68209+2T>G)
c.68008+2T>G (n.68008+2T>G)
c.67633+2T>G (n.67633+2T>G)
c.94828+2T>G (n.94828+2T>G)
c.89905+2T>G (n.89905+2T>G)
n.446+22962A>C
n.2043+4237A>C
c.93925+2T>G (n.93925+2T>G)
c.67819+2T>G (n.67819+2T>G)
c.67678+2T>G (n.67678+2T>G)
c.93721+2T>G (n.93721+2T>G)
c.89119+2T>G (n.89119+2T>G)
c.89116+2T>G (n.89116+2T>G)
c.86158+2T>G (n.86158+2T>G)
c.67774+2T>G (n.67774+2T>G)
c.89269+2T>G (n.89269+2T>G)
c.89266+2T>G (n.89266+2T>G)
c.88699+2T>G (n.88699+2T>G)
c.86041+2T>G (n.86041+2T>G)
c.85960+2T>G (n.85960+2T>G)
c.67723+2T>G (n.67723+2T>G)
c.57577+2T>G (n.57577+2T>G)
2g.178546598A>GCA349469825TTN,TTN-AS1c.87124+2T>C (n.87124+2T>C)
c.68209+2T>C (n.68209+2T>C)
c.68008+2T>C (n.68008+2T>C)
c.67633+2T>C (n.67633+2T>C)
c.94828+2T>C (n.94828+2T>C)
c.89905+2T>C (n.89905+2T>C)
n.446+22962A>G
n.2043+4237A>G
c.93925+2T>C (n.93925+2T>C)
c.67819+2T>C (n.67819+2T>C)
c.67678+2T>C (n.67678+2T>C)
c.93721+2T>C (n.93721+2T>C)
c.89119+2T>C (n.89119+2T>C)
c.89116+2T>C (n.89116+2T>C)
c.86158+2T>C (n.86158+2T>C)
c.67774+2T>C (n.67774+2T>C)
c.89269+2T>C (n.89269+2T>C)
c.89266+2T>C (n.89266+2T>C)
c.88699+2T>C (n.88699+2T>C)
c.86041+2T>C (n.86041+2T>C)
c.85960+2T>C (n.85960+2T>C)
c.67723+2T>C (n.67723+2T>C)
c.57577+2T>C (n.57577+2T>C)
2g.178546598A>TCA349469812TTN,TTN-AS1c.87124+2T>A (n.87124+2T>A)
c.68209+2T>A (n.68209+2T>A)
c.68008+2T>A (n.68008+2T>A)
c.67633+2T>A (n.67633+2T>A)
c.94828+2T>A (n.94828+2T>A)
c.89905+2T>A (n.89905+2T>A)
n.446+22962A>T
n.2043+4237A>T
c.93925+2T>A (n.93925+2T>A)
c.67819+2T>A (n.67819+2T>A)
c.67678+2T>A (n.67678+2T>A)
c.93721+2T>A (n.93721+2T>A)
c.89119+2T>A (n.89119+2T>A)
c.89116+2T>A (n.89116+2T>A)
c.86158+2T>A (n.86158+2T>A)
c.67774+2T>A (n.67774+2T>A)
c.89269+2T>A (n.89269+2T>A)
c.89266+2T>A (n.89266+2T>A)
c.88699+2T>A (n.88699+2T>A)
c.86041+2T>A (n.86041+2T>A)
c.85960+2T>A (n.85960+2T>A)
c.67723+2T>A (n.67723+2T>A)
c.57577+2T>A (n.57577+2T>A)
2g.178546599C>ACA349469828TTN,TTN-AS1c.87124+1G>T (n.87124+1G>T)
c.68209+1G>T (n.68209+1G>T)
c.68008+1G>T (n.68008+1G>T)
c.67633+1G>T (n.67633+1G>T)
c.94828+1G>T (n.94828+1G>T)
c.89905+1G>T (n.89905+1G>T)
n.446+22963C>A
n.2043+4238C>A
c.93925+1G>T (n.93925+1G>T)
c.67819+1G>T (n.67819+1G>T)
c.67678+1G>T (n.67678+1G>T)
c.93721+1G>T (n.93721+1G>T)
c.89119+1G>T (n.89119+1G>T)
c.89116+1G>T (n.89116+1G>T)
c.86158+1G>T (n.86158+1G>T)
c.67774+1G>T (n.67774+1G>T)
c.89269+1G>T (n.89269+1G>T)
c.89266+1G>T (n.89266+1G>T)
c.88699+1G>T (n.88699+1G>T)
c.86041+1G>T (n.86041+1G>T)
c.85960+1G>T (n.85960+1G>T)
c.67723+1G>T (n.67723+1G>T)
c.57577+1G>T (n.57577+1G>T)
2g.178546599C=CA1310523228TTN,TTN-AS1c.87124+1G= (n.87124+1G=)
c.68209+1G= (n.68209+1G=)
c.68008+1G= (n.68008+1G=)
c.67633+1G= (n.67633+1G=)
c.94828+1G= (n.94828+1G=)
c.89905+1G= (n.89905+1G=)
n.446+22963C=
n.2043+4238C=
c.93925+1G= (n.93925+1G=)
c.67819+1G= (n.67819+1G=)
c.67678+1G= (n.67678+1G=)
c.93721+1G= (n.93721+1G=)
c.89119+1G= (n.89119+1G=)
c.89116+1G= (n.89116+1G=)
c.86158+1G= (n.86158+1G=)
c.67774+1G= (n.67774+1G=)
c.89269+1G= (n.89269+1G=)
c.89266+1G= (n.89266+1G=)
c.88699+1G= (n.88699+1G=)
c.86041+1G= (n.86041+1G=)
c.85960+1G= (n.85960+1G=)
c.67723+1G= (n.67723+1G=)
c.57577+1G= (n.57577+1G=)
2g.178546599C>GCA349469832TTN,TTN-AS1c.87124+1G>C (n.87124+1G>C)
c.68209+1G>C (n.68209+1G>C)
c.68008+1G>C (n.68008+1G>C)
c.67633+1G>C (n.67633+1G>C)
c.94828+1G>C (n.94828+1G>C)
c.89905+1G>C (n.89905+1G>C)
n.446+22963C>G
n.2043+4238C>G
c.93925+1G>C (n.93925+1G>C)
c.67819+1G>C (n.67819+1G>C)
c.67678+1G>C (n.67678+1G>C)
c.93721+1G>C (n.93721+1G>C)
c.89119+1G>C (n.89119+1G>C)
c.89116+1G>C (n.89116+1G>C)
c.86158+1G>C (n.86158+1G>C)
c.67774+1G>C (n.67774+1G>C)
c.89269+1G>C (n.89269+1G>C)
c.89266+1G>C (n.89266+1G>C)
c.88699+1G>C (n.88699+1G>C)
c.86041+1G>C (n.86041+1G>C)
c.85960+1G>C (n.85960+1G>C)
c.67723+1G>C (n.67723+1G>C)
c.57577+1G>C (n.57577+1G>C)
2g.178546599C>TCA349469834TTN,TTN-AS1c.87124+1G>A (n.87124+1G>A)
c.68209+1G>A (n.68209+1G>A)
c.68008+1G>A (n.68008+1G>A)
c.67633+1G>A (n.67633+1G>A)
c.94828+1G>A (n.94828+1G>A)
c.89905+1G>A (n.89905+1G>A)
n.446+22963C>T
n.2043+4238C>T
c.93925+1G>A (n.93925+1G>A)
c.67819+1G>A (n.67819+1G>A)
c.67678+1G>A (n.67678+1G>A)
c.93721+1G>A (n.93721+1G>A)
c.89119+1G>A (n.89119+1G>A)
c.89116+1G>A (n.89116+1G>A)
c.86158+1G>A (n.86158+1G>A)
c.67774+1G>A (n.67774+1G>A)
c.89269+1G>A (n.89269+1G>A)
c.89266+1G>A (n.89266+1G>A)
c.88699+1G>A (n.88699+1G>A)
c.86041+1G>A (n.86041+1G>A)
c.85960+1G>A (n.85960+1G>A)
c.67723+1G>A (n.67723+1G>A)
c.57577+1G>A (n.57577+1G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.178546600C>ACA349469853TTN,TTN-AS1c.87124G>T (p.Ala29042Ser)
c.68209G>T (p.Ala22737Ser)
c.68008G>T (p.Ala22670Ser)
c.67633G>T (p.Ala22545Ser)
c.94828G>T (p.Ala31610Ser)
c.89905G>T (p.Ala29969Ser)
n.446+22964C>A
n.2043+4239C>A
c.93925G>T (p.Ala31309Ser)
c.67819G>T (p.Ala22607Ser)
c.67678G>T (p.Ala22560Ser)
c.93721G>T (p.Ala31241Ser)
c.89119G>T (p.Ala29707Ser)
c.89116G>T (p.Ala29706Ser)
c.86158G>T (p.Ala28720Ser)
c.67774G>T (p.Ala22592Ser)
c.89269G>T (p.Ala29757Ser)
c.89266G>T (p.Ala29756Ser)
c.88699G>T (p.Ala29567Ser)
c.86041G>T (p.Ala28681Ser)
c.85960G>T (p.Ala28654Ser)
c.67723G>T (p.Ala22575Ser)
c.57577G>T (p.Ala19193Ser)
 dbSNP gnomAD v2
2g.178546600C=CA1310523231TTN,TTN-AS1c.87124G= (p.Ala29042=)
c.68209G= (p.Ala22737=)
c.68008G= (p.Ala22670=)
c.67633G= (p.Ala22545=)
c.94828G= (p.Ala31610=)
c.89905G= (p.Ala29969=)
n.446+22964C=
n.2043+4239C=
c.93925G= (p.Ala31309=)
c.67819G= (p.Ala22607=)
c.67678G= (p.Ala22560=)
c.93721G= (p.Ala31241=)
c.89119G= (p.Ala29707=)
c.89116G= (p.Ala29706=)
c.86158G= (p.Ala28720=)
c.67774G= (p.Ala22592=)
c.89269G= (p.Ala29757=)
c.89266G= (p.Ala29756=)
c.88699G= (p.Ala29567=)
c.86041G= (p.Ala28681=)
c.85960G= (p.Ala28654=)
c.67723G= (p.Ala22575=)
c.57577G= (p.Ala19193=)
2g.178546600C>GCA349469863TTN,TTN-AS1c.87124G>C (p.Ala29042Pro)
c.68209G>C (p.Ala22737Pro)
c.68008G>C (p.Ala22670Pro)
c.67633G>C (p.Ala22545Pro)
c.94828G>C (p.Ala31610Pro)
c.89905G>C (p.Ala29969Pro)
n.446+22964C>G
n.2043+4239C>G
c.93925G>C (p.Ala31309Pro)
c.67819G>C (p.Ala22607Pro)
c.67678G>C (p.Ala22560Pro)
c.93721G>C (p.Ala31241Pro)
c.89119G>C (p.Ala29707Pro)
c.89116G>C (p.Ala29706Pro)
c.86158G>C (p.Ala28720Pro)
c.67774G>C (p.Ala22592Pro)
c.89269G>C (p.Ala29757Pro)
c.89266G>C (p.Ala29756Pro)
c.88699G>C (p.Ala29567Pro)
c.86041G>C (p.Ala28681Pro)
c.85960G>C (p.Ala28654Pro)
c.67723G>C (p.Ala22575Pro)
c.57577G>C (p.Ala19193Pro)
2g.178546600C>TCA141309TTN,TTN-AS1c.87124G>A (p.Ala29042Thr)
c.68209G>A (p.Ala22737Thr)
c.68008G>A (p.Ala22670Thr)
c.67633G>A (p.Ala22545Thr)
c.94828G>A (p.Ala31610Thr)
c.89905G>A (p.Ala29969Thr)
n.446+22964C>T
n.2043+4239C>T
c.93925G>A (p.Ala31309Thr)
c.67819G>A (p.Ala22607Thr)
c.67678G>A (p.Ala22560Thr)
c.93721G>A (p.Ala31241Thr)
c.89119G>A (p.Ala29707Thr)
c.89116G>A (p.Ala29706Thr)
c.86158G>A (p.Ala28720Thr)
c.67774G>A (p.Ala22592Thr)
c.89269G>A (p.Ala29757Thr)
c.89266G>A (p.Ala29756Thr)
c.88699G>A (p.Ala29567Thr)
c.86041G>A (p.Ala28681Thr)
c.85960G>A (p.Ala28654Thr)
c.67723G>A (p.Ala22575Thr)
c.57577G>A (p.Ala19193Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546601G>ACA1987073TTN,TTN-AS1c.87123C>T (p.Tyr29041=)
c.68208C>T (p.Tyr22736=)
c.68007C>T (p.Tyr22669=)
c.67632C>T (p.Tyr22544=)
c.94827C>T (p.Tyr31609=)
c.89904C>T (p.Tyr29968=)
n.446+22965G>A
n.2043+4240G>A
c.93924C>T (p.Tyr31308=)
c.67818C>T (p.Tyr22606=)
c.67677C>T (p.Tyr22559=)
c.93720C>T (p.Tyr31240=)
c.89118C>T (p.Tyr29706=)
c.89115C>T (p.Tyr29705=)
c.86157C>T (p.Tyr28719=)
c.67773C>T (p.Tyr22591=)
c.89268C>T (p.Tyr29756=)
c.89265C>T (p.Tyr29755=)
c.88698C>T (p.Tyr29566=)
c.86040C>T (p.Tyr28680=)
c.85959C>T (p.Tyr28653=)
c.67722C>T (p.Tyr22574=)
c.57576C>T (p.Tyr19192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546601G>CCA349469877TTN,TTN-AS1c.87123C>G (p.Tyr29041Ter)
c.68208C>G (p.Tyr22736Ter)
c.68007C>G (p.Tyr22669Ter)
c.67632C>G (p.Tyr22544Ter)
c.94827C>G (p.Tyr31609Ter)
c.89904C>G (p.Tyr29968Ter)
n.446+22965G>C
n.2043+4240G>C
c.93924C>G (p.Tyr31308Ter)
c.67818C>G (p.Tyr22606Ter)
c.67677C>G (p.Tyr22559Ter)
c.93720C>G (p.Tyr31240Ter)
c.89118C>G (p.Tyr29706Ter)
c.89115C>G (p.Tyr29705Ter)
c.86157C>G (p.Tyr28719Ter)
c.67773C>G (p.Tyr22591Ter)
c.89268C>G (p.Tyr29756Ter)
c.89265C>G (p.Tyr29755Ter)
c.88698C>G (p.Tyr29566Ter)
c.86040C>G (p.Tyr28680Ter)
c.85959C>G (p.Tyr28653Ter)
c.67722C>G (p.Tyr22574Ter)
c.57576C>G (p.Tyr19192Ter)
 ClinVar
2g.178546601G=CA1310523235TTN,TTN-AS1c.87123C= (p.Tyr29041=)
c.68208C= (p.Tyr22736=)
c.68007C= (p.Tyr22669=)
c.67632C= (p.Tyr22544=)
c.94827C= (p.Tyr31609=)
c.89904C= (p.Tyr29968=)
n.446+22965G=
n.2043+4240G=
c.93924C= (p.Tyr31308=)
c.67818C= (p.Tyr22606=)
c.67677C= (p.Tyr22559=)
c.93720C= (p.Tyr31240=)
c.89118C= (p.Tyr29706=)
c.89115C= (p.Tyr29705=)
c.86157C= (p.Tyr28719=)
c.67773C= (p.Tyr22591=)
c.89268C= (p.Tyr29756=)
c.89265C= (p.Tyr29755=)
c.88698C= (p.Tyr29566=)
c.86040C= (p.Tyr28680=)
c.85959C= (p.Tyr28653=)
c.67722C= (p.Tyr22574=)
c.57576C= (p.Tyr19192=)
2g.178546601G>TCA349469879TTN,TTN-AS1c.87123C>A (p.Tyr29041Ter)
c.68208C>A (p.Tyr22736Ter)
c.68007C>A (p.Tyr22669Ter)
c.67632C>A (p.Tyr22544Ter)
c.94827C>A (p.Tyr31609Ter)
c.89904C>A (p.Tyr29968Ter)
n.446+22965G>T
n.2043+4240G>T
c.93924C>A (p.Tyr31308Ter)
c.67818C>A (p.Tyr22606Ter)
c.67677C>A (p.Tyr22559Ter)
c.93720C>A (p.Tyr31240Ter)
c.89118C>A (p.Tyr29706Ter)
c.89115C>A (p.Tyr29705Ter)
c.86157C>A (p.Tyr28719Ter)
c.67773C>A (p.Tyr22591Ter)
c.89268C>A (p.Tyr29756Ter)
c.89265C>A (p.Tyr29755Ter)
c.88698C>A (p.Tyr29566Ter)
c.86040C>A (p.Tyr28680Ter)
c.85959C>A (p.Tyr28653Ter)
c.67722C>A (p.Tyr22574Ter)
c.57576C>A (p.Tyr19192Ter)
2g.178546602T>ACA349469883TTN,TTN-AS1c.87122A>T (p.Tyr29041Phe)
c.68207A>T (p.Tyr22736Phe)
c.68006A>T (p.Tyr22669Phe)
c.67631A>T (p.Tyr22544Phe)
c.94826A>T (p.Tyr31609Phe)
c.89903A>T (p.Tyr29968Phe)
n.446+22966T>A
n.2043+4241T>A
c.93923A>T (p.Tyr31308Phe)
c.67817A>T (p.Tyr22606Phe)
c.67676A>T (p.Tyr22559Phe)
c.93719A>T (p.Tyr31240Phe)
c.89117A>T (p.Tyr29706Phe)
c.89114A>T (p.Tyr29705Phe)
c.86156A>T (p.Tyr28719Phe)
c.67772A>T (p.Tyr22591Phe)
c.89267A>T (p.Tyr29756Phe)
c.89264A>T (p.Tyr29755Phe)
c.88697A>T (p.Tyr29566Phe)
c.86039A>T (p.Tyr28680Phe)
c.85958A>T (p.Tyr28653Phe)
c.67721A>T (p.Tyr22574Phe)
c.57575A>T (p.Tyr19192Phe)
2g.178546602T>CCA310962TTN,TTN-AS1c.87122A>G (p.Tyr29041Cys)
c.68207A>G (p.Tyr22736Cys)
c.68006A>G (p.Tyr22669Cys)
c.67631A>G (p.Tyr22544Cys)
c.94826A>G (p.Tyr31609Cys)
c.89903A>G (p.Tyr29968Cys)
n.446+22966T>C
n.2043+4241T>C
c.93923A>G (p.Tyr31308Cys)
c.67817A>G (p.Tyr22606Cys)
c.67676A>G (p.Tyr22559Cys)
c.93719A>G (p.Tyr31240Cys)
c.89117A>G (p.Tyr29706Cys)
c.89114A>G (p.Tyr29705Cys)
c.86156A>G (p.Tyr28719Cys)
c.67772A>G (p.Tyr22591Cys)
c.89267A>G (p.Tyr29756Cys)
c.89264A>G (p.Tyr29755Cys)
c.88697A>G (p.Tyr29566Cys)
c.86039A>G (p.Tyr28680Cys)
c.85958A>G (p.Tyr28653Cys)
c.67721A>G (p.Tyr22574Cys)
c.57575A>G (p.Tyr19192Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546602T>GCA349469895TTN,TTN-AS1c.87122A>C (p.Tyr29041Ser)
c.68207A>C (p.Tyr22736Ser)
c.68006A>C (p.Tyr22669Ser)
c.67631A>C (p.Tyr22544Ser)
c.94826A>C (p.Tyr31609Ser)
c.89903A>C (p.Tyr29968Ser)
n.446+22966T>G
n.2043+4241T>G
c.93923A>C (p.Tyr31308Ser)
c.67817A>C (p.Tyr22606Ser)
c.67676A>C (p.Tyr22559Ser)
c.93719A>C (p.Tyr31240Ser)
c.89117A>C (p.Tyr29706Ser)
c.89114A>C (p.Tyr29705Ser)
c.86156A>C (p.Tyr28719Ser)
c.67772A>C (p.Tyr22591Ser)
c.89267A>C (p.Tyr29756Ser)
c.89264A>C (p.Tyr29755Ser)
c.88697A>C (p.Tyr29566Ser)
c.86039A>C (p.Tyr28680Ser)
c.85958A>C (p.Tyr28653Ser)
c.67721A>C (p.Tyr22574Ser)
c.57575A>C (p.Tyr19192Ser)
2g.178546602T=CA1310523239TTN,TTN-AS1c.87122A= (p.Tyr29041=)
c.68207A= (p.Tyr22736=)
c.68006A= (p.Tyr22669=)
c.67631A= (p.Tyr22544=)
c.94826A= (p.Tyr31609=)
c.89903A= (p.Tyr29968=)
n.446+22966T=
n.2043+4241T=
c.93923A= (p.Tyr31308=)
c.67817A= (p.Tyr22606=)
c.67676A= (p.Tyr22559=)
c.93719A= (p.Tyr31240=)
c.89117A= (p.Tyr29706=)
c.89114A= (p.Tyr29705=)
c.86156A= (p.Tyr28719=)
c.67772A= (p.Tyr22591=)
c.89267A= (p.Tyr29756=)
c.89264A= (p.Tyr29755=)
c.88697A= (p.Tyr29566=)
c.86039A= (p.Tyr28680=)
c.85958A= (p.Tyr28653=)
c.67721A= (p.Tyr22574=)
c.57575A= (p.Tyr19192=)
2g.178546603A>CCA349469911TTN,TTN-AS1c.87121T>G (p.Tyr29041Asp)
c.68206T>G (p.Tyr22736Asp)
c.68005T>G (p.Tyr22669Asp)
c.67630T>G (p.Tyr22544Asp)
c.94825T>G (p.Tyr31609Asp)
c.89902T>G (p.Tyr29968Asp)
n.446+22967A>C
n.2043+4242A>C
c.93922T>G (p.Tyr31308Asp)
c.67816T>G (p.Tyr22606Asp)
c.67675T>G (p.Tyr22559Asp)
c.93718T>G (p.Tyr31240Asp)
c.89116T>G (p.Tyr29706Asp)
c.89113T>G (p.Tyr29705Asp)
c.86155T>G (p.Tyr28719Asp)
c.67771T>G (p.Tyr22591Asp)
c.89266T>G (p.Tyr29756Asp)
c.89263T>G (p.Tyr29755Asp)
c.88696T>G (p.Tyr29566Asp)
c.86038T>G (p.Tyr28680Asp)
c.85957T>G (p.Tyr28653Asp)
c.67720T>G (p.Tyr22574Asp)
c.57574T>G (p.Tyr19192Asp)
2g.178546603A>GCA349469923TTN,TTN-AS1c.87121T>C (p.Tyr29041His)
c.68206T>C (p.Tyr22736His)
c.68005T>C (p.Tyr22669His)
c.67630T>C (p.Tyr22544His)
c.94825T>C (p.Tyr31609His)
c.89902T>C (p.Tyr29968His)
n.446+22967A>G
n.2043+4242A>G
c.93922T>C (p.Tyr31308His)
c.67816T>C (p.Tyr22606His)
c.67675T>C (p.Tyr22559His)
c.93718T>C (p.Tyr31240His)
c.89116T>C (p.Tyr29706His)
c.89113T>C (p.Tyr29705His)
c.86155T>C (p.Tyr28719His)
c.67771T>C (p.Tyr22591His)
c.89266T>C (p.Tyr29756His)
c.89263T>C (p.Tyr29755His)
c.88696T>C (p.Tyr29566His)
c.86038T>C (p.Tyr28680His)
c.85957T>C (p.Tyr28653His)
c.67720T>C (p.Tyr22574His)
c.57574T>C (p.Tyr19192His)
2g.178546603A>TCA349469898TTN,TTN-AS1c.87121T>A (p.Tyr29041Asn)
c.68206T>A (p.Tyr22736Asn)
c.68005T>A (p.Tyr22669Asn)
c.67630T>A (p.Tyr22544Asn)
c.94825T>A (p.Tyr31609Asn)
c.89902T>A (p.Tyr29968Asn)
n.446+22967A>T
n.2043+4242A>T
c.93922T>A (p.Tyr31308Asn)
c.67816T>A (p.Tyr22606Asn)
c.67675T>A (p.Tyr22559Asn)
c.93718T>A (p.Tyr31240Asn)
c.89116T>A (p.Tyr29706Asn)
c.89113T>A (p.Tyr29705Asn)
c.86155T>A (p.Tyr28719Asn)
c.67771T>A (p.Tyr22591Asn)
c.89266T>A (p.Tyr29756Asn)
c.89263T>A (p.Tyr29755Asn)
c.88696T>A (p.Tyr29566Asn)
c.86038T>A (p.Tyr28680Asn)
c.85957T>A (p.Tyr28653Asn)
c.67720T>A (p.Tyr22574Asn)
c.57574T>A (p.Tyr19192Asn)
2g.178546604T>ACA349469924TTN,TTN-AS1c.87120A>T (p.Glu29040Asp)
c.68205A>T (p.Glu22735Asp)
c.68004A>T (p.Glu22668Asp)
c.67629A>T (p.Glu22543Asp)
c.94824A>T (p.Glu31608Asp)
c.89901A>T (p.Glu29967Asp)
n.446+22968T>A
n.2043+4243T>A
c.93921A>T (p.Glu31307Asp)
c.67815A>T (p.Glu22605Asp)
c.67674A>T (p.Glu22558Asp)
c.93717A>T (p.Glu31239Asp)
c.89115A>T (p.Glu29705Asp)
c.89112A>T (p.Glu29704Asp)
c.86154A>T (p.Glu28718Asp)
c.67770A>T (p.Glu22590Asp)
c.89265A>T (p.Glu29755Asp)
c.89262A>T (p.Glu29754Asp)
c.88695A>T (p.Glu29565Asp)
c.86037A>T (p.Glu28679Asp)
c.85956A>T (p.Glu28652Asp)
c.67719A>T (p.Glu22573Asp)
c.57573A>T (p.Glu19191Asp)
 gnomAD v4
2g.178546604T>CCA430242308TTN,TTN-AS1c.87120A>G (p.Glu29040=)
c.68205A>G (p.Glu22735=)
c.68004A>G (p.Glu22668=)
c.67629A>G (p.Glu22543=)
c.94824A>G (p.Glu31608=)
c.89901A>G (p.Glu29967=)
n.446+22968T>C
n.2043+4243T>C
c.93921A>G (p.Glu31307=)
c.67815A>G (p.Glu22605=)
c.67674A>G (p.Glu22558=)
c.93717A>G (p.Glu31239=)
c.89115A>G (p.Glu29705=)
c.89112A>G (p.Glu29704=)
c.86154A>G (p.Glu28718=)
c.67770A>G (p.Glu22590=)
c.89265A>G (p.Glu29755=)
c.89262A>G (p.Glu29754=)
c.88695A>G (p.Glu29565=)
c.86037A>G (p.Glu28679=)
c.85956A>G (p.Glu28652=)
c.67719A>G (p.Glu22573=)
c.57573A>G (p.Glu19191=)
2g.178546604T>GCA349469930TTN,TTN-AS1c.87120A>C (p.Glu29040Asp)
c.68205A>C (p.Glu22735Asp)
c.68004A>C (p.Glu22668Asp)
c.67629A>C (p.Glu22543Asp)
c.94824A>C (p.Glu31608Asp)
c.89901A>C (p.Glu29967Asp)
n.446+22968T>G
n.2043+4243T>G
c.93921A>C (p.Glu31307Asp)
c.67815A>C (p.Glu22605Asp)
c.67674A>C (p.Glu22558Asp)
c.93717A>C (p.Glu31239Asp)
c.89115A>C (p.Glu29705Asp)
c.89112A>C (p.Glu29704Asp)
c.86154A>C (p.Glu28718Asp)
c.67770A>C (p.Glu22590Asp)
c.89265A>C (p.Glu29755Asp)
c.89262A>C (p.Glu29754Asp)
c.88695A>C (p.Glu29565Asp)
c.86037A>C (p.Glu28679Asp)
c.85956A>C (p.Glu28652Asp)
c.67719A>C (p.Glu22573Asp)
c.57573A>C (p.Glu19191Asp)
2g.178546605T>ACA349469938TTN,TTN-AS1c.87119A>T (p.Glu29040Val)
c.68204A>T (p.Glu22735Val)
c.68003A>T (p.Glu22668Val)
c.67628A>T (p.Glu22543Val)
c.94823A>T (p.Glu31608Val)
c.89900A>T (p.Glu29967Val)
n.446+22969T>A
n.2043+4244T>A
c.93920A>T (p.Glu31307Val)
c.67814A>T (p.Glu22605Val)
c.67673A>T (p.Glu22558Val)
c.93716A>T (p.Glu31239Val)
c.89114A>T (p.Glu29705Val)
c.89111A>T (p.Glu29704Val)
c.86153A>T (p.Glu28718Val)
c.67769A>T (p.Glu22590Val)
c.89264A>T (p.Glu29755Val)
c.89261A>T (p.Glu29754Val)
c.88694A>T (p.Glu29565Val)
c.86036A>T (p.Glu28679Val)
c.85955A>T (p.Glu28652Val)
c.67718A>T (p.Glu22573Val)
c.57572A>T (p.Glu19191Val)
2g.178546605T>CCA349469943TTN,TTN-AS1c.87119A>G (p.Glu29040Gly)
c.68204A>G (p.Glu22735Gly)
c.68003A>G (p.Glu22668Gly)
c.67628A>G (p.Glu22543Gly)
c.94823A>G (p.Glu31608Gly)
c.89900A>G (p.Glu29967Gly)
n.446+22969T>C
n.2043+4244T>C
c.93920A>G (p.Glu31307Gly)
c.67814A>G (p.Glu22605Gly)
c.67673A>G (p.Glu22558Gly)
c.93716A>G (p.Glu31239Gly)
c.89114A>G (p.Glu29705Gly)
c.89111A>G (p.Glu29704Gly)
c.86153A>G (p.Glu28718Gly)
c.67769A>G (p.Glu22590Gly)
c.89264A>G (p.Glu29755Gly)
c.89261A>G (p.Glu29754Gly)
c.88694A>G (p.Glu29565Gly)
c.86036A>G (p.Glu28679Gly)
c.85955A>G (p.Glu28652Gly)
c.67718A>G (p.Glu22573Gly)
c.57572A>G (p.Glu19191Gly)
2g.178546605T>GCA349469947TTN,TTN-AS1c.87119A>C (p.Glu29040Ala)
c.68204A>C (p.Glu22735Ala)
c.68003A>C (p.Glu22668Ala)
c.67628A>C (p.Glu22543Ala)
c.94823A>C (p.Glu31608Ala)
c.89900A>C (p.Glu29967Ala)
n.446+22969T>G
n.2043+4244T>G
c.93920A>C (p.Glu31307Ala)
c.67814A>C (p.Glu22605Ala)
c.67673A>C (p.Glu22558Ala)
c.93716A>C (p.Glu31239Ala)
c.89114A>C (p.Glu29705Ala)
c.89111A>C (p.Glu29704Ala)
c.86153A>C (p.Glu28718Ala)
c.67769A>C (p.Glu22590Ala)
c.89264A>C (p.Glu29755Ala)
c.89261A>C (p.Glu29754Ala)
c.88694A>C (p.Glu29565Ala)
c.86036A>C (p.Glu28679Ala)
c.85955A>C (p.Glu28652Ala)
c.67718A>C (p.Glu22573Ala)
c.57572A>C (p.Glu19191Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178546606C>ACA349469974TTN,TTN-AS1c.87118G>T (p.Glu29040Ter)
c.68203G>T (p.Glu22735Ter)
c.68002G>T (p.Glu22668Ter)
c.67627G>T (p.Glu22543Ter)
c.94822G>T (p.Glu31608Ter)
c.89899G>T (p.Glu29967Ter)
n.446+22970C>A
n.2043+4245C>A
c.93919G>T (p.Glu31307Ter)
c.67813G>T (p.Glu22605Ter)
c.67672G>T (p.Glu22558Ter)
c.93715G>T (p.Glu31239Ter)
c.89113G>T (p.Glu29705Ter)
c.89110G>T (p.Glu29704Ter)
c.86152G>T (p.Glu28718Ter)
c.67768G>T (p.Glu22590Ter)
c.89263G>T (p.Glu29755Ter)
c.89260G>T (p.Glu29754Ter)
c.88693G>T (p.Glu29565Ter)
c.86035G>T (p.Glu28679Ter)
c.85954G>T (p.Glu28652Ter)
c.67717G>T (p.Glu22573Ter)
c.57571G>T (p.Glu19191Ter)
2g.178546606C>GCA349469962TTN,TTN-AS1c.87118G>C (p.Glu29040Gln)
c.68203G>C (p.Glu22735Gln)
c.68002G>C (p.Glu22668Gln)
c.67627G>C (p.Glu22543Gln)
c.94822G>C (p.Glu31608Gln)
c.89899G>C (p.Glu29967Gln)
n.446+22970C>G
n.2043+4245C>G
c.93919G>C (p.Glu31307Gln)
c.67813G>C (p.Glu22605Gln)
c.67672G>C (p.Glu22558Gln)
c.93715G>C (p.Glu31239Gln)
c.89113G>C (p.Glu29705Gln)
c.89110G>C (p.Glu29704Gln)
c.86152G>C (p.Glu28718Gln)
c.67768G>C (p.Glu22590Gln)
c.89263G>C (p.Glu29755Gln)
c.89260G>C (p.Glu29754Gln)
c.88693G>C (p.Glu29565Gln)
c.86035G>C (p.Glu28679Gln)
c.85954G>C (p.Glu28652Gln)
c.67717G>C (p.Glu22573Gln)
c.57571G>C (p.Glu19191Gln)
2g.178546606C>TCA349469971TTN,TTN-AS1c.87118G>A (p.Glu29040Lys)
c.68203G>A (p.Glu22735Lys)
c.68002G>A (p.Glu22668Lys)
c.67627G>A (p.Glu22543Lys)
c.94822G>A (p.Glu31608Lys)
c.89899G>A (p.Glu29967Lys)
n.446+22970C>T
n.2043+4245C>T
c.93919G>A (p.Glu31307Lys)
c.67813G>A (p.Glu22605Lys)
c.67672G>A (p.Glu22558Lys)
c.93715G>A (p.Glu31239Lys)
c.89113G>A (p.Glu29705Lys)
c.89110G>A (p.Glu29704Lys)
c.86152G>A (p.Glu28718Lys)
c.67768G>A (p.Glu22590Lys)
c.89263G>A (p.Glu29755Lys)
c.89260G>A (p.Glu29754Lys)
c.88693G>A (p.Glu29565Lys)
c.86035G>A (p.Glu28679Lys)
c.85954G>A (p.Glu28652Lys)
c.67717G>A (p.Glu22573Lys)
c.57571G>A (p.Glu19191Lys)
2g.178546607A>CCA349469979TTN,TTN-AS1c.87117T>G (p.Asp29039Glu)
c.68202T>G (p.Asp22734Glu)
c.68001T>G (p.Asp22667Glu)
c.67626T>G (p.Asp22542Glu)
c.94821T>G (p.Asp31607Glu)
c.89898T>G (p.Asp29966Glu)
n.446+22971A>C
n.2043+4246A>C
c.93918T>G (p.Asp31306Glu)
c.67812T>G (p.Asp22604Glu)
c.67671T>G (p.Asp22557Glu)
c.93714T>G (p.Asp31238Glu)
c.89112T>G (p.Asp29704Glu)
c.89109T>G (p.Asp29703Glu)
c.86151T>G (p.Asp28717Glu)
c.67767T>G (p.Asp22589Glu)
c.89262T>G (p.Asp29754Glu)
c.89259T>G (p.Asp29753Glu)
c.88692T>G (p.Asp29564Glu)
c.86034T>G (p.Asp28678Glu)
c.85953T>G (p.Asp28651Glu)
c.67716T>G (p.Asp22572Glu)
c.57570T>G (p.Asp19190Glu)
2g.178546607A>GCA430242310TTN,TTN-AS1c.87117T>C (p.Asp29039=)
c.68202T>C (p.Asp22734=)
c.68001T>C (p.Asp22667=)
c.67626T>C (p.Asp22542=)
c.94821T>C (p.Asp31607=)
c.89898T>C (p.Asp29966=)
n.446+22971A>G
n.2043+4246A>G
c.93918T>C (p.Asp31306=)
c.67812T>C (p.Asp22604=)
c.67671T>C (p.Asp22557=)
c.93714T>C (p.Asp31238=)
c.89112T>C (p.Asp29704=)
c.89109T>C (p.Asp29703=)
c.86151T>C (p.Asp28717=)
c.67767T>C (p.Asp22589=)
c.89262T>C (p.Asp29754=)
c.89259T>C (p.Asp29753=)
c.88692T>C (p.Asp29564=)
c.86034T>C (p.Asp28678=)
c.85953T>C (p.Asp28651=)
c.67716T>C (p.Asp22572=)
c.57570T>C (p.Asp19190=)
2g.178546607A>TCA349469982TTN,TTN-AS1c.87117T>A (p.Asp29039Glu)
c.68202T>A (p.Asp22734Glu)
c.68001T>A (p.Asp22667Glu)
c.67626T>A (p.Asp22542Glu)
c.94821T>A (p.Asp31607Glu)
c.89898T>A (p.Asp29966Glu)
n.446+22971A>T
n.2043+4246A>T
c.93918T>A (p.Asp31306Glu)
c.67812T>A (p.Asp22604Glu)
c.67671T>A (p.Asp22557Glu)
c.93714T>A (p.Asp31238Glu)
c.89112T>A (p.Asp29704Glu)
c.89109T>A (p.Asp29703Glu)
c.86151T>A (p.Asp28717Glu)
c.67767T>A (p.Asp22589Glu)
c.89262T>A (p.Asp29754Glu)
c.89259T>A (p.Asp29753Glu)
c.88692T>A (p.Asp29564Glu)
c.86034T>A (p.Asp28678Glu)
c.85953T>A (p.Asp28651Glu)
c.67716T>A (p.Asp22572Glu)
c.57570T>A (p.Asp19190Glu)
2g.178546608T>ACA349469988TTN,TTN-AS1c.87116A>T (p.Asp29039Val)
c.68201A>T (p.Asp22734Val)
c.68000A>T (p.Asp22667Val)
c.67625A>T (p.Asp22542Val)
c.94820A>T (p.Asp31607Val)
c.89897A>T (p.Asp29966Val)
n.446+22972T>A
n.2043+4247T>A
c.93917A>T (p.Asp31306Val)
c.67811A>T (p.Asp22604Val)
c.67670A>T (p.Asp22557Val)
c.93713A>T (p.Asp31238Val)
c.89111A>T (p.Asp29704Val)
c.89108A>T (p.Asp29703Val)
c.86150A>T (p.Asp28717Val)
c.67766A>T (p.Asp22589Val)
c.89261A>T (p.Asp29754Val)
c.89258A>T (p.Asp29753Val)
c.88691A>T (p.Asp29564Val)
c.86033A>T (p.Asp28678Val)
c.85952A>T (p.Asp28651Val)
c.67715A>T (p.Asp22572Val)
c.57569A>T (p.Asp19190Val)
2g.178546608T>CCA349469991TTN,TTN-AS1c.87116A>G (p.Asp29039Gly)
c.68201A>G (p.Asp22734Gly)
c.68000A>G (p.Asp22667Gly)
c.67625A>G (p.Asp22542Gly)
c.94820A>G (p.Asp31607Gly)
c.89897A>G (p.Asp29966Gly)
n.446+22972T>C
n.2043+4247T>C
c.93917A>G (p.Asp31306Gly)
c.67811A>G (p.Asp22604Gly)
c.67670A>G (p.Asp22557Gly)
c.93713A>G (p.Asp31238Gly)
c.89111A>G (p.Asp29704Gly)
c.89108A>G (p.Asp29703Gly)
c.86150A>G (p.Asp28717Gly)
c.67766A>G (p.Asp22589Gly)
c.89261A>G (p.Asp29754Gly)
c.89258A>G (p.Asp29753Gly)
c.88691A>G (p.Asp29564Gly)
c.86033A>G (p.Asp28678Gly)
c.85952A>G (p.Asp28651Gly)
c.67715A>G (p.Asp22572Gly)
c.57569A>G (p.Asp19190Gly)
2g.178546608T>GCA349469993TTN,TTN-AS1c.87116A>C (p.Asp29039Ala)
c.68201A>C (p.Asp22734Ala)
c.68000A>C (p.Asp22667Ala)
c.67625A>C (p.Asp22542Ala)
c.94820A>C (p.Asp31607Ala)
c.89897A>C (p.Asp29966Ala)
n.446+22972T>G
n.2043+4247T>G
c.93917A>C (p.Asp31306Ala)
c.67811A>C (p.Asp22604Ala)
c.67670A>C (p.Asp22557Ala)
c.93713A>C (p.Asp31238Ala)
c.89111A>C (p.Asp29704Ala)
c.89108A>C (p.Asp29703Ala)
c.86150A>C (p.Asp28717Ala)
c.67766A>C (p.Asp22589Ala)
c.89261A>C (p.Asp29754Ala)
c.89258A>C (p.Asp29753Ala)
c.88691A>C (p.Asp29564Ala)
c.86033A>C (p.Asp28678Ala)
c.85952A>C (p.Asp28651Ala)
c.67715A>C (p.Asp22572Ala)
c.57569A>C (p.Asp19190Ala)
2g.178546609C>ACA349470007TTN,TTN-AS1c.87115G>T (p.Asp29039Tyr)
c.68200G>T (p.Asp22734Tyr)
c.67999G>T (p.Asp22667Tyr)
c.67624G>T (p.Asp22542Tyr)
c.94819G>T (p.Asp31607Tyr)
c.89896G>T (p.Asp29966Tyr)
n.446+22973C>A
n.2043+4248C>A
c.93916G>T (p.Asp31306Tyr)
c.67810G>T (p.Asp22604Tyr)
c.67669G>T (p.Asp22557Tyr)
c.93712G>T (p.Asp31238Tyr)
c.89110G>T (p.Asp29704Tyr)
c.89107G>T (p.Asp29703Tyr)
c.86149G>T (p.Asp28717Tyr)
c.67765G>T (p.Asp22589Tyr)
c.89260G>T (p.Asp29754Tyr)
c.89257G>T (p.Asp29753Tyr)
c.88690G>T (p.Asp29564Tyr)
c.86032G>T (p.Asp28678Tyr)
c.85951G>T (p.Asp28651Tyr)
c.67714G>T (p.Asp22572Tyr)
c.57568G>T (p.Asp19190Tyr)
2g.178546609C>GCA349470006TTN,TTN-AS1c.87115G>C (p.Asp29039His)
c.68200G>C (p.Asp22734His)
c.67999G>C (p.Asp22667His)
c.67624G>C (p.Asp22542His)
c.94819G>C (p.Asp31607His)
c.89896G>C (p.Asp29966His)
n.446+22973C>G
n.2043+4248C>G
c.93916G>C (p.Asp31306His)
c.67810G>C (p.Asp22604His)
c.67669G>C (p.Asp22557His)
c.93712G>C (p.Asp31238His)
c.89110G>C (p.Asp29704His)
c.89107G>C (p.Asp29703His)
c.86149G>C (p.Asp28717His)
c.67765G>C (p.Asp22589His)
c.89260G>C (p.Asp29754His)
c.89257G>C (p.Asp29753His)
c.88690G>C (p.Asp29564His)
c.86032G>C (p.Asp28678His)
c.85951G>C (p.Asp28651His)
c.67714G>C (p.Asp22572His)
c.57568G>C (p.Asp19190His)
 COSMIC COSMIC COSMIC COSMIC
2g.178546609C>TCA349469996TTN,TTN-AS1c.87115G>A (p.Asp29039Asn)
c.68200G>A (p.Asp22734Asn)
c.67999G>A (p.Asp22667Asn)
c.67624G>A (p.Asp22542Asn)
c.94819G>A (p.Asp31607Asn)
c.89896G>A (p.Asp29966Asn)
n.446+22973C>T
n.2043+4248C>T
c.93916G>A (p.Asp31306Asn)
c.67810G>A (p.Asp22604Asn)
c.67669G>A (p.Asp22557Asn)
c.93712G>A (p.Asp31238Asn)
c.89110G>A (p.Asp29704Asn)
c.89107G>A (p.Asp29703Asn)
c.86149G>A (p.Asp28717Asn)
c.67765G>A (p.Asp22589Asn)
c.89260G>A (p.Asp29754Asn)
c.89257G>A (p.Asp29753Asn)
c.88690G>A (p.Asp29564Asn)
c.86032G>A (p.Asp28678Asn)
c.85951G>A (p.Asp28651Asn)
c.67714G>A (p.Asp22572Asn)
c.57568G>A (p.Asp19190Asn)
 gnomAD v4
2g.178546610T>ACA430242316TTN,TTN-AS1c.87114A>T (p.Arg29038=)
c.68199A>T (p.Arg22733=)
c.67998A>T (p.Arg22666=)
c.67623A>T (p.Arg22541=)
c.94818A>T (p.Arg31606=)
c.89895A>T (p.Arg29965=)
n.446+22974T>A
n.2043+4249T>A
c.93915A>T (p.Arg31305=)
c.67809A>T (p.Arg22603=)
c.67668A>T (p.Arg22556=)
c.93711A>T (p.Arg31237=)
c.89109A>T (p.Arg29703=)
c.89106A>T (p.Arg29702=)
c.86148A>T (p.Arg28716=)
c.67764A>T (p.Arg22588=)
c.89259A>T (p.Arg29753=)
c.89256A>T (p.Arg29752=)
c.88689A>T (p.Arg29563=)
c.86031A>T (p.Arg28677=)
c.85950A>T (p.Arg28650=)
c.67713A>T (p.Arg22571=)
c.57567A>T (p.Arg19189=)
2g.178546610T>CCA430242320TTN,TTN-AS1c.87114A>G (p.Arg29038=)
c.68199A>G (p.Arg22733=)
c.67998A>G (p.Arg22666=)
c.67623A>G (p.Arg22541=)
c.94818A>G (p.Arg31606=)
c.89895A>G (p.Arg29965=)
n.446+22974T>C
n.2043+4249T>C
c.93915A>G (p.Arg31305=)
c.67809A>G (p.Arg22603=)
c.67668A>G (p.Arg22556=)
c.93711A>G (p.Arg31237=)
c.89109A>G (p.Arg29703=)
c.89106A>G (p.Arg29702=)
c.86148A>G (p.Arg28716=)
c.67764A>G (p.Arg22588=)
c.89259A>G (p.Arg29753=)
c.89256A>G (p.Arg29752=)
c.88689A>G (p.Arg29563=)
c.86031A>G (p.Arg28677=)
c.85950A>G (p.Arg28650=)
c.67713A>G (p.Arg22571=)
c.57567A>G (p.Arg19189=)
2g.178546610T>GCA430242318TTN,TTN-AS1c.87114A>C (p.Arg29038=)
c.68199A>C (p.Arg22733=)
c.67998A>C (p.Arg22666=)
c.67623A>C (p.Arg22541=)
c.94818A>C (p.Arg31606=)
c.89895A>C (p.Arg29965=)
n.446+22974T>G
n.2043+4249T>G
c.93915A>C (p.Arg31305=)
c.67809A>C (p.Arg22603=)
c.67668A>C (p.Arg22556=)
c.93711A>C (p.Arg31237=)
c.89109A>C (p.Arg29703=)
c.89106A>C (p.Arg29702=)
c.86148A>C (p.Arg28716=)
c.67764A>C (p.Arg22588=)
c.89259A>C (p.Arg29753=)
c.89256A>C (p.Arg29752=)
c.88689A>C (p.Arg29563=)
c.86031A>C (p.Arg28677=)
c.85950A>C (p.Arg28650=)
c.67713A>C (p.Arg22571=)
c.57567A>C (p.Arg19189=)
2g.178546611C>ACA349470016TTN,TTN-AS1c.87113G>T (p.Arg29038Leu)
c.68198G>T (p.Arg22733Leu)
c.67997G>T (p.Arg22666Leu)
c.67622G>T (p.Arg22541Leu)
c.94817G>T (p.Arg31606Leu)
c.89894G>T (p.Arg29965Leu)
n.446+22975C>A
n.2043+4250C>A
c.93914G>T (p.Arg31305Leu)
c.67808G>T (p.Arg22603Leu)
c.67667G>T (p.Arg22556Leu)
c.93710G>T (p.Arg31237Leu)
c.89108G>T (p.Arg29703Leu)
c.89105G>T (p.Arg29702Leu)
c.86147G>T (p.Arg28716Leu)
c.67763G>T (p.Arg22588Leu)
c.89258G>T (p.Arg29753Leu)
c.89255G>T (p.Arg29752Leu)
c.88688G>T (p.Arg29563Leu)
c.86030G>T (p.Arg28677Leu)
c.85949G>T (p.Arg28650Leu)
c.67712G>T (p.Arg22571Leu)
c.57566G>T (p.Arg19189Leu)
2g.178546611C=CA1310523242TTN,TTN-AS1c.87113G= (p.Arg29038=)
c.68198G= (p.Arg22733=)
c.67997G= (p.Arg22666=)
c.67622G= (p.Arg22541=)
c.94817G= (p.Arg31606=)
c.89894G= (p.Arg29965=)
n.446+22975C=
n.2043+4250C=
c.93914G= (p.Arg31305=)
c.67808G= (p.Arg22603=)
c.67667G= (p.Arg22556=)
c.93710G= (p.Arg31237=)
c.89108G= (p.Arg29703=)
c.89105G= (p.Arg29702=)
c.86147G= (p.Arg28716=)
c.67763G= (p.Arg22588=)
c.89258G= (p.Arg29753=)
c.89255G= (p.Arg29752=)
c.88688G= (p.Arg29563=)
c.86030G= (p.Arg28677=)
c.85949G= (p.Arg28650=)
c.67712G= (p.Arg22571=)
c.57566G= (p.Arg19189=)
2g.178546611C>GCA349470031TTN,TTN-AS1c.87113G>C (p.Arg29038Pro)
c.68198G>C (p.Arg22733Pro)
c.67997G>C (p.Arg22666Pro)
c.67622G>C (p.Arg22541Pro)
c.94817G>C (p.Arg31606Pro)
c.89894G>C (p.Arg29965Pro)
n.446+22975C>G
n.2043+4250C>G
c.93914G>C (p.Arg31305Pro)
c.67808G>C (p.Arg22603Pro)
c.67667G>C (p.Arg22556Pro)
c.93710G>C (p.Arg31237Pro)
c.89108G>C (p.Arg29703Pro)
c.89105G>C (p.Arg29702Pro)
c.86147G>C (p.Arg28716Pro)
c.67763G>C (p.Arg22588Pro)
c.89258G>C (p.Arg29753Pro)
c.89255G>C (p.Arg29752Pro)
c.88688G>C (p.Arg29563Pro)
c.86030G>C (p.Arg28677Pro)
c.85949G>C (p.Arg28650Pro)
c.67712G>C (p.Arg22571Pro)
c.57566G>C (p.Arg19189Pro)
2g.178546611C>TCA1987074TTN,TTN-AS1c.87113G>A (p.Arg29038Gln)
c.68198G>A (p.Arg22733Gln)
c.67997G>A (p.Arg22666Gln)
c.67622G>A (p.Arg22541Gln)
c.94817G>A (p.Arg31606Gln)
c.89894G>A (p.Arg29965Gln)
n.446+22975C>T
n.2043+4250C>T
c.93914G>A (p.Arg31305Gln)
c.67808G>A (p.Arg22603Gln)
c.67667G>A (p.Arg22556Gln)
c.93710G>A (p.Arg31237Gln)
c.89108G>A (p.Arg29703Gln)
c.89105G>A (p.Arg29702Gln)
c.86147G>A (p.Arg28716Gln)
c.67763G>A (p.Arg22588Gln)
c.89258G>A (p.Arg29753Gln)
c.89255G>A (p.Arg29752Gln)
c.88688G>A (p.Arg29563Gln)
c.86030G>A (p.Arg28677Gln)
c.85949G>A (p.Arg28650Gln)
c.67712G>A (p.Arg22571Gln)
c.57566G>A (p.Arg19189Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546612G>ACA16610333TTN,TTN-AS1c.87112C>T (p.Arg29038Ter)
c.68197C>T (p.Arg22733Ter)
c.67996C>T (p.Arg22666Ter)
c.67621C>T (p.Arg22541Ter)
c.94816C>T (p.Arg31606Ter)
c.89893C>T (p.Arg29965Ter)
n.446+22976G>A
n.2043+4251G>A
c.93913C>T (p.Arg31305Ter)
c.67807C>T (p.Arg22603Ter)
c.67666C>T (p.Arg22556Ter)
c.93709C>T (p.Arg31237Ter)
c.89107C>T (p.Arg29703Ter)
c.89104C>T (p.Arg29702Ter)
c.86146C>T (p.Arg28716Ter)
c.67762C>T (p.Arg22588Ter)
c.89257C>T (p.Arg29753Ter)
c.89254C>T (p.Arg29752Ter)
c.88687C>T (p.Arg29563Ter)
c.86029C>T (p.Arg28677Ter)
c.85948C>T (p.Arg28650Ter)
c.67711C>T (p.Arg22571Ter)
c.57565C>T (p.Arg19189Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546612G>CCA349470053TTN,TTN-AS1c.87112C>G (p.Arg29038Gly)
c.68197C>G (p.Arg22733Gly)
c.67996C>G (p.Arg22666Gly)
c.67621C>G (p.Arg22541Gly)
c.94816C>G (p.Arg31606Gly)
c.89893C>G (p.Arg29965Gly)
n.446+22976G>C
n.2043+4251G>C
c.93913C>G (p.Arg31305Gly)
c.67807C>G (p.Arg22603Gly)
c.67666C>G (p.Arg22556Gly)
c.93709C>G (p.Arg31237Gly)
c.89107C>G (p.Arg29703Gly)
c.89104C>G (p.Arg29702Gly)
c.86146C>G (p.Arg28716Gly)
c.67762C>G (p.Arg22588Gly)
c.89257C>G (p.Arg29753Gly)
c.89254C>G (p.Arg29752Gly)
c.88687C>G (p.Arg29563Gly)
c.86029C>G (p.Arg28677Gly)
c.85948C>G (p.Arg28650Gly)
c.67711C>G (p.Arg22571Gly)
c.57565C>G (p.Arg19189Gly)
2g.178546612G=CA1310523245TTN,TTN-AS1c.87112C= (p.Arg29038=)
c.68197C= (p.Arg22733=)
c.67996C= (p.Arg22666=)
c.67621C= (p.Arg22541=)
c.94816C= (p.Arg31606=)
c.89893C= (p.Arg29965=)
n.446+22976G=
n.2043+4251G=
c.93913C= (p.Arg31305=)
c.67807C= (p.Arg22603=)
c.67666C= (p.Arg22556=)
c.93709C= (p.Arg31237=)
c.89107C= (p.Arg29703=)
c.89104C= (p.Arg29702=)
c.86146C= (p.Arg28716=)
c.67762C= (p.Arg22588=)
c.89257C= (p.Arg29753=)
c.89254C= (p.Arg29752=)
c.88687C= (p.Arg29563=)
c.86029C= (p.Arg28677=)
c.85948C= (p.Arg28650=)
c.67711C= (p.Arg22571=)
c.57565C= (p.Arg19189=)
2g.178546612G>TCA430242322TTN,TTN-AS1c.87112C>A (p.Arg29038=)
c.68197C>A (p.Arg22733=)
c.67996C>A (p.Arg22666=)
c.67621C>A (p.Arg22541=)
c.94816C>A (p.Arg31606=)
c.89893C>A (p.Arg29965=)
n.446+22976G>T
n.2043+4251G>T
c.93913C>A (p.Arg31305=)
c.67807C>A (p.Arg22603=)
c.67666C>A (p.Arg22556=)
c.93709C>A (p.Arg31237=)
c.89107C>A (p.Arg29703=)
c.89104C>A (p.Arg29702=)
c.86146C>A (p.Arg28716=)
c.67762C>A (p.Arg22588=)
c.89257C>A (p.Arg29753=)
c.89254C>A (p.Arg29752=)
c.88687C>A (p.Arg29563=)
c.86029C>A (p.Arg28677=)
c.85948C>A (p.Arg28650=)
c.67711C>A (p.Arg22571=)
c.57565C>A (p.Arg19189=)
2g.178546613dupCA2662126189TTN,TTN-AS1c.87112dup (p.Arg29038ProfsTer3)
c.68197dup (p.Arg22733ProfsTer3)
c.67996dup (p.Arg22666ProfsTer3)
c.67621dup (p.Arg22541ProfsTer3)
c.94816dup (p.Arg31606ProfsTer3)
c.89893dup (p.Arg29965ProfsTer3)
n.446+22977dup
n.2043+4252dup
c.93913dup (p.Arg31305ProfsTer3)
c.67807dup (p.Arg22603ProfsTer3)
c.67666dup (p.Arg22556ProfsTer3)
c.93709dup (p.Arg31237ProfsTer3)
c.89107dup (p.Arg29703ProfsTer3)
c.89104dup (p.Arg29702ProfsTer3)
c.86146dup (p.Arg28716ProfsTer3)
c.67762dup (p.Arg22588ProfsTer3)
c.89257dup (p.Arg29753ProfsTer3)
c.89254dup (p.Arg29752ProfsTer3)
c.88687dup (p.Arg29563ProfsTer3)
c.86029dup (p.Arg28677ProfsTer3)
c.85948dup (p.Arg28650ProfsTer3)
c.67711dup (p.Arg22571ProfsTer3)
c.57565dup (p.Arg19189ProfsTer3)
 gnomAD v4
2g.178546613G>ACA430242324TTN,TTN-AS1c.87111C>T (p.Cys29037=)
c.68196C>T (p.Cys22732=)
c.67995C>T (p.Cys22665=)
c.67620C>T (p.Cys22540=)
c.94815C>T (p.Cys31605=)
c.89892C>T (p.Cys29964=)
n.446+22977G>A
n.2043+4252G>A
c.93912C>T (p.Cys31304=)
c.67806C>T (p.Cys22602=)
c.67665C>T (p.Cys22555=)
c.93708C>T (p.Cys31236=)
c.89106C>T (p.Cys29702=)
c.89103C>T (p.Cys29701=)
c.86145C>T (p.Cys28715=)
c.67761C>T (p.Cys22587=)
c.89256C>T (p.Cys29752=)
c.89253C>T (p.Cys29751=)
c.88686C>T (p.Cys29562=)
c.86028C>T (p.Cys28676=)
c.85947C>T (p.Cys28649=)
c.67710C>T (p.Cys22570=)
c.57564C>T (p.Cys19188=)
2g.178546613G>CCA349470057TTN,TTN-AS1c.87111C>G (p.Cys29037Trp)
c.68196C>G (p.Cys22732Trp)
c.67995C>G (p.Cys22665Trp)
c.67620C>G (p.Cys22540Trp)
c.94815C>G (p.Cys31605Trp)
c.89892C>G (p.Cys29964Trp)
n.446+22977G>C
n.2043+4252G>C
c.93912C>G (p.Cys31304Trp)
c.67806C>G (p.Cys22602Trp)
c.67665C>G (p.Cys22555Trp)
c.93708C>G (p.Cys31236Trp)
c.89106C>G (p.Cys29702Trp)
c.89103C>G (p.Cys29701Trp)
c.86145C>G (p.Cys28715Trp)
c.67761C>G (p.Cys22587Trp)
c.89256C>G (p.Cys29752Trp)
c.89253C>G (p.Cys29751Trp)
c.88686C>G (p.Cys29562Trp)
c.86028C>G (p.Cys28676Trp)
c.85947C>G (p.Cys28649Trp)
c.67710C>G (p.Cys22570Trp)
c.57564C>G (p.Cys19188Trp)
2g.178546613G>TCA349470063TTN,TTN-AS1c.87111C>A (p.Cys29037Ter)
c.68196C>A (p.Cys22732Ter)
c.67995C>A (p.Cys22665Ter)
c.67620C>A (p.Cys22540Ter)
c.94815C>A (p.Cys31605Ter)
c.89892C>A (p.Cys29964Ter)
n.446+22977G>T
n.2043+4252G>T
c.93912C>A (p.Cys31304Ter)
c.67806C>A (p.Cys22602Ter)
c.67665C>A (p.Cys22555Ter)
c.93708C>A (p.Cys31236Ter)
c.89106C>A (p.Cys29702Ter)
c.89103C>A (p.Cys29701Ter)
c.86145C>A (p.Cys28715Ter)
c.67761C>A (p.Cys22587Ter)
c.89256C>A (p.Cys29752Ter)
c.89253C>A (p.Cys29751Ter)
c.88686C>A (p.Cys29562Ter)
c.86028C>A (p.Cys28676Ter)
c.85947C>A (p.Cys28649Ter)
c.67710C>A (p.Cys22570Ter)
c.57564C>A (p.Cys19188Ter)
2g.178546614C>ACA349470088TTN,TTN-AS1c.87110G>T (p.Cys29037Phe)
c.68195G>T (p.Cys22732Phe)
c.67994G>T (p.Cys22665Phe)
c.67619G>T (p.Cys22540Phe)
c.94814G>T (p.Cys31605Phe)
c.89891G>T (p.Cys29964Phe)
n.446+22978C>A
n.2043+4253C>A
c.93911G>T (p.Cys31304Phe)
c.67805G>T (p.Cys22602Phe)
c.67664G>T (p.Cys22555Phe)
c.93707G>T (p.Cys31236Phe)
c.89105G>T (p.Cys29702Phe)
c.89102G>T (p.Cys29701Phe)
c.86144G>T (p.Cys28715Phe)
c.67760G>T (p.Cys22587Phe)
c.89255G>T (p.Cys29752Phe)
c.89252G>T (p.Cys29751Phe)
c.88685G>T (p.Cys29562Phe)
c.86027G>T (p.Cys28676Phe)
c.85946G>T (p.Cys28649Phe)
c.67709G>T (p.Cys22570Phe)
c.57563G>T (p.Cys19188Phe)
2g.178546614C=CA1310523247TTN,TTN-AS1c.87110G= (p.Cys29037=)
c.68195G= (p.Cys22732=)
c.67994G= (p.Cys22665=)
c.67619G= (p.Cys22540=)
c.94814G= (p.Cys31605=)
c.89891G= (p.Cys29964=)
n.446+22978C=
n.2043+4253C=
c.93911G= (p.Cys31304=)
c.67805G= (p.Cys22602=)
c.67664G= (p.Cys22555=)
c.93707G= (p.Cys31236=)
c.89105G= (p.Cys29702=)
c.89102G= (p.Cys29701=)
c.86144G= (p.Cys28715=)
c.67760G= (p.Cys22587=)
c.89255G= (p.Cys29752=)
c.89252G= (p.Cys29751=)
c.88685G= (p.Cys29562=)
c.86027G= (p.Cys28676=)
c.85946G= (p.Cys28649=)
c.67709G= (p.Cys22570=)
c.57563G= (p.Cys19188=)
2g.178546614C>GCA349470089TTN,TTN-AS1c.87110G>C (p.Cys29037Ser)
c.68195G>C (p.Cys22732Ser)
c.67994G>C (p.Cys22665Ser)
c.67619G>C (p.Cys22540Ser)
c.94814G>C (p.Cys31605Ser)
c.89891G>C (p.Cys29964Ser)
n.446+22978C>G
n.2043+4253C>G
c.93911G>C (p.Cys31304Ser)
c.67805G>C (p.Cys22602Ser)
c.67664G>C (p.Cys22555Ser)
c.93707G>C (p.Cys31236Ser)
c.89105G>C (p.Cys29702Ser)
c.89102G>C (p.Cys29701Ser)
c.86144G>C (p.Cys28715Ser)
c.67760G>C (p.Cys22587Ser)
c.89255G>C (p.Cys29752Ser)
c.89252G>C (p.Cys29751Ser)
c.88685G>C (p.Cys29562Ser)
c.86027G>C (p.Cys28676Ser)
c.85946G>C (p.Cys28649Ser)
c.67709G>C (p.Cys22570Ser)
c.57563G>C (p.Cys19188Ser)
2g.178546614C>TCA60972476TTN,TTN-AS1c.87110G>A (p.Cys29037Tyr)
c.68195G>A (p.Cys22732Tyr)
c.67994G>A (p.Cys22665Tyr)
c.67619G>A (p.Cys22540Tyr)
c.94814G>A (p.Cys31605Tyr)
c.89891G>A (p.Cys29964Tyr)
n.446+22978C>T
n.2043+4253C>T
c.93911G>A (p.Cys31304Tyr)
c.67805G>A (p.Cys22602Tyr)
c.67664G>A (p.Cys22555Tyr)
c.93707G>A (p.Cys31236Tyr)
c.89105G>A (p.Cys29702Tyr)
c.89102G>A (p.Cys29701Tyr)
c.86144G>A (p.Cys28715Tyr)
c.67760G>A (p.Cys22587Tyr)
c.89255G>A (p.Cys29752Tyr)
c.89252G>A (p.Cys29751Tyr)
c.88685G>A (p.Cys29562Tyr)
c.86027G>A (p.Cys28676Tyr)
c.85946G>A (p.Cys28649Tyr)
c.67709G>A (p.Cys22570Tyr)
c.57563G>A (p.Cys19188Tyr)
 dbSNP gnomAD v4
2g.178546615A=CA1310523250TTN,TTN-AS1c.87109T= (p.Cys29037=)
c.68194T= (p.Cys22732=)
c.67993T= (p.Cys22665=)
c.67618T= (p.Cys22540=)
c.94813T= (p.Cys31605=)
c.89890T= (p.Cys29964=)
n.446+22979A=
n.2043+4254A=
c.93910T= (p.Cys31304=)
c.67804T= (p.Cys22602=)
c.67663T= (p.Cys22555=)
c.93706T= (p.Cys31236=)
c.89104T= (p.Cys29702=)
c.89101T= (p.Cys29701=)
c.86143T= (p.Cys28715=)
c.67759T= (p.Cys22587=)
c.89254T= (p.Cys29752=)
c.89251T= (p.Cys29751=)
c.88684T= (p.Cys29562=)
c.86026T= (p.Cys28676=)
c.85945T= (p.Cys28649=)
c.67708T= (p.Cys22570=)
c.57562T= (p.Cys19188=)
2g.178546615A>CCA349470094TTN,TTN-AS1c.87109T>G (p.Cys29037Gly)
c.68194T>G (p.Cys22732Gly)
c.67993T>G (p.Cys22665Gly)
c.67618T>G (p.Cys22540Gly)
c.94813T>G (p.Cys31605Gly)
c.89890T>G (p.Cys29964Gly)
n.446+22979A>C
n.2043+4254A>C
c.93910T>G (p.Cys31304Gly)
c.67804T>G (p.Cys22602Gly)
c.67663T>G (p.Cys22555Gly)
c.93706T>G (p.Cys31236Gly)
c.89104T>G (p.Cys29702Gly)
c.89101T>G (p.Cys29701Gly)
c.86143T>G (p.Cys28715Gly)
c.67759T>G (p.Cys22587Gly)
c.89254T>G (p.Cys29752Gly)
c.89251T>G (p.Cys29751Gly)
c.88684T>G (p.Cys29562Gly)
c.86026T>G (p.Cys28676Gly)
c.85945T>G (p.Cys28649Gly)
c.67708T>G (p.Cys22570Gly)
c.57562T>G (p.Cys19188Gly)
2g.178546615A>GCA349470099TTN,TTN-AS1c.87109T>C (p.Cys29037Arg)
c.68194T>C (p.Cys22732Arg)
c.67993T>C (p.Cys22665Arg)
c.67618T>C (p.Cys22540Arg)
c.94813T>C (p.Cys31605Arg)
c.89890T>C (p.Cys29964Arg)
n.446+22979A>G
n.2043+4254A>G
c.93910T>C (p.Cys31304Arg)
c.67804T>C (p.Cys22602Arg)
c.67663T>C (p.Cys22555Arg)
c.93706T>C (p.Cys31236Arg)
c.89104T>C (p.Cys29702Arg)
c.89101T>C (p.Cys29701Arg)
c.86143T>C (p.Cys28715Arg)
c.67759T>C (p.Cys22587Arg)
c.89254T>C (p.Cys29752Arg)
c.89251T>C (p.Cys29751Arg)
c.88684T>C (p.Cys29562Arg)
c.86026T>C (p.Cys28676Arg)
c.85945T>C (p.Cys28649Arg)
c.67708T>C (p.Cys22570Arg)
c.57562T>C (p.Cys19188Arg)
2g.178546615A>TCA349470102TTN,TTN-AS1c.87109T>A (p.Cys29037Ser)
c.68194T>A (p.Cys22732Ser)
c.67993T>A (p.Cys22665Ser)
c.67618T>A (p.Cys22540Ser)
c.94813T>A (p.Cys31605Ser)
c.89890T>A (p.Cys29964Ser)
n.446+22979A>T
n.2043+4254A>T
c.93910T>A (p.Cys31304Ser)
c.67804T>A (p.Cys22602Ser)
c.67663T>A (p.Cys22555Ser)
c.93706T>A (p.Cys31236Ser)
c.89104T>A (p.Cys29702Ser)
c.89101T>A (p.Cys29701Ser)
c.86143T>A (p.Cys28715Ser)
c.67759T>A (p.Cys22587Ser)
c.89254T>A (p.Cys29752Ser)
c.89251T>A (p.Cys29751Ser)
c.88684T>A (p.Cys29562Ser)
c.86026T>A (p.Cys28676Ser)
c.85945T>A (p.Cys28649Ser)
c.67708T>A (p.Cys22570Ser)
c.57562T>A (p.Cys19188Ser)
 dbSNP gnomAD v4
2g.178546616A>CCA430242328TTN,TTN-AS1c.87108T>G (p.Thr29036=)
c.68193T>G (p.Thr22731=)
c.67992T>G (p.Thr22664=)
c.67617T>G (p.Thr22539=)
c.94812T>G (p.Thr31604=)
c.89889T>G (p.Thr29963=)
n.446+22980A>C
n.2043+4255A>C
c.93909T>G (p.Thr31303=)
c.67803T>G (p.Thr22601=)
c.67662T>G (p.Thr22554=)
c.93705T>G (p.Thr31235=)
c.89103T>G (p.Thr29701=)
c.89100T>G (p.Thr29700=)
c.86142T>G (p.Thr28714=)
c.67758T>G (p.Thr22586=)
c.89253T>G (p.Thr29751=)
c.89250T>G (p.Thr29750=)
c.88683T>G (p.Thr29561=)
c.86025T>G (p.Thr28675=)
c.85944T>G (p.Thr28648=)
c.67707T>G (p.Thr22569=)
c.57561T>G (p.Thr19187=)
2g.178546616A>GCA430242329TTN,TTN-AS1c.87108T>C (p.Thr29036=)
c.68193T>C (p.Thr22731=)
c.67992T>C (p.Thr22664=)
c.67617T>C (p.Thr22539=)
c.94812T>C (p.Thr31604=)
c.89889T>C (p.Thr29963=)
n.446+22980A>G
n.2043+4255A>G
c.93909T>C (p.Thr31303=)
c.67803T>C (p.Thr22601=)
c.67662T>C (p.Thr22554=)
c.93705T>C (p.Thr31235=)
c.89103T>C (p.Thr29701=)
c.89100T>C (p.Thr29700=)
c.86142T>C (p.Thr28714=)
c.67758T>C (p.Thr22586=)
c.89253T>C (p.Thr29751=)
c.89250T>C (p.Thr29750=)
c.88683T>C (p.Thr29561=)
c.86025T>C (p.Thr28675=)
c.85944T>C (p.Thr28648=)
c.67707T>C (p.Thr22569=)
c.57561T>C (p.Thr19187=)
2g.178546616A>TCA430242330TTN,TTN-AS1c.87108T>A (p.Thr29036=)
c.68193T>A (p.Thr22731=)
c.67992T>A (p.Thr22664=)
c.67617T>A (p.Thr22539=)
c.94812T>A (p.Thr31604=)
c.89889T>A (p.Thr29963=)
n.446+22980A>T
n.2043+4255A>T
c.93909T>A (p.Thr31303=)
c.67803T>A (p.Thr22601=)
c.67662T>A (p.Thr22554=)
c.93705T>A (p.Thr31235=)
c.89103T>A (p.Thr29701=)
c.89100T>A (p.Thr29700=)
c.86142T>A (p.Thr28714=)
c.67758T>A (p.Thr22586=)
c.89253T>A (p.Thr29751=)
c.89250T>A (p.Thr29750=)
c.88683T>A (p.Thr29561=)
c.86025T>A (p.Thr28675=)
c.85944T>A (p.Thr28648=)
c.67707T>A (p.Thr22569=)
c.57561T>A (p.Thr19187=)
2g.178546617G>ACA349470126TTN,TTN-AS1c.87107C>T (p.Thr29036Ile)
c.68192C>T (p.Thr22731Ile)
c.67991C>T (p.Thr22664Ile)
c.67616C>T (p.Thr22539Ile)
c.94811C>T (p.Thr31604Ile)
c.89888C>T (p.Thr29963Ile)
n.446+22981G>A
n.2043+4256G>A
c.93908C>T (p.Thr31303Ile)
c.67802C>T (p.Thr22601Ile)
c.67661C>T (p.Thr22554Ile)
c.93704C>T (p.Thr31235Ile)
c.89102C>T (p.Thr29701Ile)
c.89099C>T (p.Thr29700Ile)
c.86141C>T (p.Thr28714Ile)
c.67757C>T (p.Thr22586Ile)
c.89252C>T (p.Thr29751Ile)
c.89249C>T (p.Thr29750Ile)
c.88682C>T (p.Thr29561Ile)
c.86024C>T (p.Thr28675Ile)
c.85943C>T (p.Thr28648Ile)
c.67706C>T (p.Thr22569Ile)
c.57560C>T (p.Thr19187Ile)
2g.178546617G>CCA349470118TTN,TTN-AS1c.87107C>G (p.Thr29036Ser)
c.68192C>G (p.Thr22731Ser)
c.67991C>G (p.Thr22664Ser)
c.67616C>G (p.Thr22539Ser)
c.94811C>G (p.Thr31604Ser)
c.89888C>G (p.Thr29963Ser)
n.446+22981G>C
n.2043+4256G>C
c.93908C>G (p.Thr31303Ser)
c.67802C>G (p.Thr22601Ser)
c.67661C>G (p.Thr22554Ser)
c.93704C>G (p.Thr31235Ser)
c.89102C>G (p.Thr29701Ser)
c.89099C>G (p.Thr29700Ser)
c.86141C>G (p.Thr28714Ser)
c.67757C>G (p.Thr22586Ser)
c.89252C>G (p.Thr29751Ser)
c.89249C>G (p.Thr29750Ser)
c.88682C>G (p.Thr29561Ser)
c.86024C>G (p.Thr28675Ser)
c.85943C>G (p.Thr28648Ser)
c.67706C>G (p.Thr22569Ser)
c.57560C>G (p.Thr19187Ser)
2g.178546617G>TCA349470108TTN,TTN-AS1c.87107C>A (p.Thr29036Asn)
c.68192C>A (p.Thr22731Asn)
c.67991C>A (p.Thr22664Asn)
c.67616C>A (p.Thr22539Asn)
c.94811C>A (p.Thr31604Asn)
c.89888C>A (p.Thr29963Asn)
n.446+22981G>T
n.2043+4256G>T
c.93908C>A (p.Thr31303Asn)
c.67802C>A (p.Thr22601Asn)
c.67661C>A (p.Thr22554Asn)
c.93704C>A (p.Thr31235Asn)
c.89102C>A (p.Thr29701Asn)
c.89099C>A (p.Thr29700Asn)
c.86141C>A (p.Thr28714Asn)
c.67757C>A (p.Thr22586Asn)
c.89252C>A (p.Thr29751Asn)
c.89249C>A (p.Thr29750Asn)
c.88682C>A (p.Thr29561Asn)
c.86024C>A (p.Thr28675Asn)
c.85943C>A (p.Thr28648Asn)
c.67706C>A (p.Thr22569Asn)
c.57560C>A (p.Thr19187Asn)
2g.178546618T>ACA349470130TTN,TTN-AS1c.87106A>T (p.Thr29036Ser)
c.68191A>T (p.Thr22731Ser)
c.67990A>T (p.Thr22664Ser)
c.67615A>T (p.Thr22539Ser)
c.94810A>T (p.Thr31604Ser)
c.89887A>T (p.Thr29963Ser)
n.446+22982T>A
n.2043+4257T>A
c.93907A>T (p.Thr31303Ser)
c.67801A>T (p.Thr22601Ser)
c.67660A>T (p.Thr22554Ser)
c.93703A>T (p.Thr31235Ser)
c.89101A>T (p.Thr29701Ser)
c.89098A>T (p.Thr29700Ser)
c.86140A>T (p.Thr28714Ser)
c.67756A>T (p.Thr22586Ser)
c.89251A>T (p.Thr29751Ser)
c.89248A>T (p.Thr29750Ser)
c.88681A>T (p.Thr29561Ser)
c.86023A>T (p.Thr28675Ser)
c.85942A>T (p.Thr28648Ser)
c.67705A>T (p.Thr22569Ser)
c.57559A>T (p.Thr19187Ser)
2g.178546618T>CCA349470138TTN,TTN-AS1c.87106A>G (p.Thr29036Ala)
c.68191A>G (p.Thr22731Ala)
c.67990A>G (p.Thr22664Ala)
c.67615A>G (p.Thr22539Ala)
c.94810A>G (p.Thr31604Ala)
c.89887A>G (p.Thr29963Ala)
n.446+22982T>C
n.2043+4257T>C
c.93907A>G (p.Thr31303Ala)
c.67801A>G (p.Thr22601Ala)
c.67660A>G (p.Thr22554Ala)
c.93703A>G (p.Thr31235Ala)
c.89101A>G (p.Thr29701Ala)
c.89098A>G (p.Thr29700Ala)
c.86140A>G (p.Thr28714Ala)
c.67756A>G (p.Thr22586Ala)
c.89251A>G (p.Thr29751Ala)
c.89248A>G (p.Thr29750Ala)
c.88681A>G (p.Thr29561Ala)
c.86023A>G (p.Thr28675Ala)
c.85942A>G (p.Thr28648Ala)
c.67705A>G (p.Thr22569Ala)
c.57559A>G (p.Thr19187Ala)
 gnomAD v4
2g.178546618T>GCA349470149TTN,TTN-AS1c.87106A>C (p.Thr29036Pro)
c.68191A>C (p.Thr22731Pro)
c.67990A>C (p.Thr22664Pro)
c.67615A>C (p.Thr22539Pro)
c.94810A>C (p.Thr31604Pro)
c.89887A>C (p.Thr29963Pro)
n.446+22982T>G
n.2043+4257T>G
c.93907A>C (p.Thr31303Pro)
c.67801A>C (p.Thr22601Pro)
c.67660A>C (p.Thr22554Pro)
c.93703A>C (p.Thr31235Pro)
c.89101A>C (p.Thr29701Pro)
c.89098A>C (p.Thr29700Pro)
c.86140A>C (p.Thr28714Pro)
c.67756A>C (p.Thr22586Pro)
c.89251A>C (p.Thr29751Pro)
c.89248A>C (p.Thr29750Pro)
c.88681A>C (p.Thr29561Pro)
c.86023A>C (p.Thr28675Pro)
c.85942A>C (p.Thr28648Pro)
c.67705A>C (p.Thr22569Pro)
c.57559A>C (p.Thr19187Pro)
 gnomAD v4
2g.178546619G>ACA430242338TTN,TTN-AS1c.87105C>T (p.Val29035=)
c.68190C>T (p.Val22730=)
c.67989C>T (p.Val22663=)
c.67614C>T (p.Val22538=)
c.94809C>T (p.Val31603=)
c.89886C>T (p.Val29962=)
n.446+22983G>A
n.2043+4258G>A
c.93906C>T (p.Val31302=)
c.67800C>T (p.Val22600=)
c.67659C>T (p.Val22553=)
c.93702C>T (p.Val31234=)
c.89100C>T (p.Val29700=)
c.89097C>T (p.Val29699=)
c.86139C>T (p.Val28713=)
c.67755C>T (p.Val22585=)
c.89250C>T (p.Val29750=)
c.89247C>T (p.Val29749=)
c.88680C>T (p.Val29560=)
c.86022C>T (p.Val28674=)
c.85941C>T (p.Val28647=)
c.67704C>T (p.Val22568=)
c.57558C>T (p.Val19186=)
2g.178546619G>CCA430242339TTN,TTN-AS1c.87105C>G (p.Val29035=)
c.68190C>G (p.Val22730=)
c.67989C>G (p.Val22663=)
c.67614C>G (p.Val22538=)
c.94809C>G (p.Val31603=)
c.89886C>G (p.Val29962=)
n.446+22983G>C
n.2043+4258G>C
c.93906C>G (p.Val31302=)
c.67800C>G (p.Val22600=)
c.67659C>G (p.Val22553=)
c.93702C>G (p.Val31234=)
c.89100C>G (p.Val29700=)
c.89097C>G (p.Val29699=)
c.86139C>G (p.Val28713=)
c.67755C>G (p.Val22585=)
c.89250C>G (p.Val29750=)
c.89247C>G (p.Val29749=)
c.88680C>G (p.Val29560=)
c.86022C>G (p.Val28674=)
c.85941C>G (p.Val28647=)
c.67704C>G (p.Val22568=)
c.57558C>G (p.Val19186=)
2g.178546619G>TCA430242337TTN,TTN-AS1c.87105C>A (p.Val29035=)
c.68190C>A (p.Val22730=)
c.67989C>A (p.Val22663=)
c.67614C>A (p.Val22538=)
c.94809C>A (p.Val31603=)
c.89886C>A (p.Val29962=)
n.446+22983G>T
n.2043+4258G>T
c.93906C>A (p.Val31302=)
c.67800C>A (p.Val22600=)
c.67659C>A (p.Val22553=)
c.93702C>A (p.Val31234=)
c.89100C>A (p.Val29700=)
c.89097C>A (p.Val29699=)
c.86139C>A (p.Val28713=)
c.67755C>A (p.Val22585=)
c.89250C>A (p.Val29750=)
c.89247C>A (p.Val29749=)
c.88680C>A (p.Val29560=)
c.86022C>A (p.Val28674=)
c.85941C>A (p.Val28647=)
c.67704C>A (p.Val22568=)
c.57558C>A (p.Val19186=)
2g.178546620A>CCA349470157TTN,TTN-AS1c.87104T>G (p.Val29035Gly)
c.68189T>G (p.Val22730Gly)
c.67988T>G (p.Val22663Gly)
c.67613T>G (p.Val22538Gly)
c.94808T>G (p.Val31603Gly)
c.89885T>G (p.Val29962Gly)
n.446+22984A>C
n.2043+4259A>C
c.93905T>G (p.Val31302Gly)
c.67799T>G (p.Val22600Gly)
c.67658T>G (p.Val22553Gly)
c.93701T>G (p.Val31234Gly)
c.89099T>G (p.Val29700Gly)
c.89096T>G (p.Val29699Gly)
c.86138T>G (p.Val28713Gly)
c.67754T>G (p.Val22585Gly)
c.89249T>G (p.Val29750Gly)
c.89246T>G (p.Val29749Gly)
c.88679T>G (p.Val29560Gly)
c.86021T>G (p.Val28674Gly)
c.85940T>G (p.Val28647Gly)
c.67703T>G (p.Val22568Gly)
c.57557T>G (p.Val19186Gly)
2g.178546620A>GCA349470160TTN,TTN-AS1c.87104T>C (p.Val29035Ala)
c.68189T>C (p.Val22730Ala)
c.67988T>C (p.Val22663Ala)
c.67613T>C (p.Val22538Ala)
c.94808T>C (p.Val31603Ala)
c.89885T>C (p.Val29962Ala)
n.446+22984A>G
n.2043+4259A>G
c.93905T>C (p.Val31302Ala)
c.67799T>C (p.Val22600Ala)
c.67658T>C (p.Val22553Ala)
c.93701T>C (p.Val31234Ala)
c.89099T>C (p.Val29700Ala)
c.89096T>C (p.Val29699Ala)
c.86138T>C (p.Val28713Ala)
c.67754T>C (p.Val22585Ala)
c.89249T>C (p.Val29750Ala)
c.89246T>C (p.Val29749Ala)
c.88679T>C (p.Val29560Ala)
c.86021T>C (p.Val28674Ala)
c.85940T>C (p.Val28647Ala)
c.67703T>C (p.Val22568Ala)
c.57557T>C (p.Val19186Ala)
2g.178546620A>TCA349470163TTN,TTN-AS1c.87104T>A (p.Val29035Asp)
c.68189T>A (p.Val22730Asp)
c.67988T>A (p.Val22663Asp)
c.67613T>A (p.Val22538Asp)
c.94808T>A (p.Val31603Asp)
c.89885T>A (p.Val29962Asp)
n.446+22984A>T
n.2043+4259A>T
c.93905T>A (p.Val31302Asp)
c.67799T>A (p.Val22600Asp)
c.67658T>A (p.Val22553Asp)
c.93701T>A (p.Val31234Asp)
c.89099T>A (p.Val29700Asp)
c.89096T>A (p.Val29699Asp)
c.86138T>A (p.Val28713Asp)
c.67754T>A (p.Val22585Asp)
c.89249T>A (p.Val29750Asp)
c.89246T>A (p.Val29749Asp)
c.88679T>A (p.Val29560Asp)
c.86021T>A (p.Val28674Asp)
c.85940T>A (p.Val28647Asp)
c.67703T>A (p.Val22568Asp)
c.57557T>A (p.Val19186Asp)
2g.178546621C>ACA16610334TTN,TTN-AS1c.87103G>T (p.Val29035Phe)
c.68188G>T (p.Val22730Phe)
c.67987G>T (p.Val22663Phe)
c.67612G>T (p.Val22538Phe)
c.94807G>T (p.Val31603Phe)
c.89884G>T (p.Val29962Phe)
n.446+22985C>A
n.2043+4260C>A
c.93904G>T (p.Val31302Phe)
c.67798G>T (p.Val22600Phe)
c.67657G>T (p.Val22553Phe)
c.93700G>T (p.Val31234Phe)
c.89098G>T (p.Val29700Phe)
c.89095G>T (p.Val29699Phe)
c.86137G>T (p.Val28713Phe)
c.67753G>T (p.Val22585Phe)
c.89248G>T (p.Val29750Phe)
c.89245G>T (p.Val29749Phe)
c.88678G>T (p.Val29560Phe)
c.86020G>T (p.Val28674Phe)
c.85939G>T (p.Val28647Phe)
c.67702G>T (p.Val22568Phe)
c.57556G>T (p.Val19186Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546621C=CA1310523254TTN,TTN-AS1c.87103G= (p.Val29035=)
c.68188G= (p.Val22730=)
c.67987G= (p.Val22663=)
c.67612G= (p.Val22538=)
c.94807G= (p.Val31603=)
c.89884G= (p.Val29962=)
n.446+22985C=
n.2043+4260C=
c.93904G= (p.Val31302=)
c.67798G= (p.Val22600=)
c.67657G= (p.Val22553=)
c.93700G= (p.Val31234=)
c.89098G= (p.Val29700=)
c.89095G= (p.Val29699=)
c.86137G= (p.Val28713=)
c.67753G= (p.Val22585=)
c.89248G= (p.Val29750=)
c.89245G= (p.Val29749=)
c.88678G= (p.Val29560=)
c.86020G= (p.Val28674=)
c.85939G= (p.Val28647=)
c.67702G= (p.Val22568=)
c.57556G= (p.Val19186=)
2g.178546621C>GCA349470169TTN,TTN-AS1c.87103G>C (p.Val29035Leu)
c.68188G>C (p.Val22730Leu)
c.67987G>C (p.Val22663Leu)
c.67612G>C (p.Val22538Leu)
c.94807G>C (p.Val31603Leu)
c.89884G>C (p.Val29962Leu)
n.446+22985C>G
n.2043+4260C>G
c.93904G>C (p.Val31302Leu)
c.67798G>C (p.Val22600Leu)
c.67657G>C (p.Val22553Leu)
c.93700G>C (p.Val31234Leu)
c.89098G>C (p.Val29700Leu)
c.89095G>C (p.Val29699Leu)
c.86137G>C (p.Val28713Leu)
c.67753G>C (p.Val22585Leu)
c.89248G>C (p.Val29750Leu)
c.89245G>C (p.Val29749Leu)
c.88678G>C (p.Val29560Leu)
c.86020G>C (p.Val28674Leu)
c.85939G>C (p.Val28647Leu)
c.67702G>C (p.Val22568Leu)
c.57556G>C (p.Val19186Leu)
2g.178546621C>TCA349470170TTN,TTN-AS1c.87103G>A (p.Val29035Ile)
c.68188G>A (p.Val22730Ile)
c.67987G>A (p.Val22663Ile)
c.67612G>A (p.Val22538Ile)
c.94807G>A (p.Val31603Ile)
c.89884G>A (p.Val29962Ile)
n.446+22985C>T
n.2043+4260C>T
c.93904G>A (p.Val31302Ile)
c.67798G>A (p.Val22600Ile)
c.67657G>A (p.Val22553Ile)
c.93700G>A (p.Val31234Ile)
c.89098G>A (p.Val29700Ile)
c.89095G>A (p.Val29699Ile)
c.86137G>A (p.Val28713Ile)
c.67753G>A (p.Val22585Ile)
c.89248G>A (p.Val29750Ile)
c.89245G>A (p.Val29749Ile)
c.88678G>A (p.Val29560Ile)
c.86020G>A (p.Val28674Ile)
c.85939G>A (p.Val28647Ile)
c.67702G>A (p.Val22568Ile)
c.57556G>A (p.Val19186Ile)
 gnomAD v4
2g.178546622A>CCA430242341TTN,TTN-AS1c.87102T>G (p.Pro29034=)
c.68187T>G (p.Pro22729=)
c.67986T>G (p.Pro22662=)
c.67611T>G (p.Pro22537=)
c.94806T>G (p.Pro31602=)
c.89883T>G (p.Pro29961=)
n.446+22986A>C
n.2043+4261A>C
c.93903T>G (p.Pro31301=)
c.67797T>G (p.Pro22599=)
c.67656T>G (p.Pro22552=)
c.93699T>G (p.Pro31233=)
c.89097T>G (p.Pro29699=)
c.89094T>G (p.Pro29698=)
c.86136T>G (p.Pro28712=)
c.67752T>G (p.Pro22584=)
c.89247T>G (p.Pro29749=)
c.89244T>G (p.Pro29748=)
c.88677T>G (p.Pro29559=)
c.86019T>G (p.Pro28673=)
c.85938T>G (p.Pro28646=)
c.67701T>G (p.Pro22567=)
c.57555T>G (p.Pro19185=)
2g.178546622A>GCA430242342TTN,TTN-AS1c.87102T>C (p.Pro29034=)
c.68187T>C (p.Pro22729=)
c.67986T>C (p.Pro22662=)
c.67611T>C (p.Pro22537=)
c.94806T>C (p.Pro31602=)
c.89883T>C (p.Pro29961=)
n.446+22986A>G
n.2043+4261A>G
c.93903T>C (p.Pro31301=)
c.67797T>C (p.Pro22599=)
c.67656T>C (p.Pro22552=)
c.93699T>C (p.Pro31233=)
c.89097T>C (p.Pro29699=)
c.89094T>C (p.Pro29698=)
c.86136T>C (p.Pro28712=)
c.67752T>C (p.Pro22584=)
c.89247T>C (p.Pro29749=)
c.89244T>C (p.Pro29748=)
c.88677T>C (p.Pro29559=)
c.86019T>C (p.Pro28673=)
c.85938T>C (p.Pro28646=)
c.67701T>C (p.Pro22567=)
c.57555T>C (p.Pro19185=)
2g.178546622A>TCA430242343TTN,TTN-AS1c.87102T>A (p.Pro29034=)
c.68187T>A (p.Pro22729=)
c.67986T>A (p.Pro22662=)
c.67611T>A (p.Pro22537=)
c.94806T>A (p.Pro31602=)
c.89883T>A (p.Pro29961=)
n.446+22986A>T
n.2043+4261A>T
c.93903T>A (p.Pro31301=)
c.67797T>A (p.Pro22599=)
c.67656T>A (p.Pro22552=)
c.93699T>A (p.Pro31233=)
c.89097T>A (p.Pro29699=)
c.89094T>A (p.Pro29698=)
c.86136T>A (p.Pro28712=)
c.67752T>A (p.Pro22584=)
c.89247T>A (p.Pro29749=)
c.89244T>A (p.Pro29748=)
c.88677T>A (p.Pro29559=)
c.86019T>A (p.Pro28673=)
c.85938T>A (p.Pro28646=)
c.67701T>A (p.Pro22567=)
c.57555T>A (p.Pro19185=)
2g.178546622_178546623delCA2580614426TTN,TTN-AS1c.87101_87102del (p.Pro29034ArgfsTer6)
c.68186_68187del (p.Pro22729ArgfsTer6)
c.67985_67986del (p.Pro22662ArgfsTer6)
c.67610_67611del (p.Pro22537ArgfsTer6)
c.94805_94806del (p.Pro31602ArgfsTer6)
c.89882_89883del (p.Pro29961ArgfsTer6)
n.446+22986_446+22987del
n.2043+4261_2043+4262del
c.93902_93903del (p.Pro31301ArgfsTer6)
c.67796_67797del (p.Pro22599ArgfsTer6)
c.67655_67656del (p.Pro22552ArgfsTer6)
c.93698_93699del (p.Pro31233ArgfsTer6)
c.89096_89097del (p.Pro29699ArgfsTer6)
c.89093_89094del (p.Pro29698ArgfsTer6)
c.86135_86136del (p.Pro28712ArgfsTer6)
c.67751_67752del (p.Pro22584ArgfsTer6)
c.89246_89247del (p.Pro29749ArgfsTer6)
c.89243_89244del (p.Pro29748ArgfsTer6)
c.88676_88677del (p.Pro29559ArgfsTer6)
c.86018_86019del (p.Pro28673ArgfsTer6)
c.85937_85938del (p.Pro28646ArgfsTer6)
c.67700_67701del (p.Pro22567ArgfsTer6)
c.57554_57555del (p.Pro19185ArgfsTer6)
 ClinVar gnomAD v4
2g.178546623G>ACA349470172TTN,TTN-AS1c.87101C>T (p.Pro29034Leu)
c.68186C>T (p.Pro22729Leu)
c.67985C>T (p.Pro22662Leu)
c.67610C>T (p.Pro22537Leu)
c.94805C>T (p.Pro31602Leu)
c.89882C>T (p.Pro29961Leu)
n.446+22987G>A
n.2043+4262G>A
c.93902C>T (p.Pro31301Leu)
c.67796C>T (p.Pro22599Leu)
c.67655C>T (p.Pro22552Leu)
c.93698C>T (p.Pro31233Leu)
c.89096C>T (p.Pro29699Leu)
c.89093C>T (p.Pro29698Leu)
c.86135C>T (p.Pro28712Leu)
c.67751C>T (p.Pro22584Leu)
c.89246C>T (p.Pro29749Leu)
c.89243C>T (p.Pro29748Leu)
c.88676C>T (p.Pro29559Leu)
c.86018C>T (p.Pro28673Leu)
c.85937C>T (p.Pro28646Leu)
c.67700C>T (p.Pro22567Leu)
c.57554C>T (p.Pro19185Leu)
2g.178546623G>CCA349470174TTN,TTN-AS1c.87101C>G (p.Pro29034Arg)
c.68186C>G (p.Pro22729Arg)
c.67985C>G (p.Pro22662Arg)
c.67610C>G (p.Pro22537Arg)
c.94805C>G (p.Pro31602Arg)
c.89882C>G (p.Pro29961Arg)
n.446+22987G>C
n.2043+4262G>C
c.93902C>G (p.Pro31301Arg)
c.67796C>G (p.Pro22599Arg)
c.67655C>G (p.Pro22552Arg)
c.93698C>G (p.Pro31233Arg)
c.89096C>G (p.Pro29699Arg)
c.89093C>G (p.Pro29698Arg)
c.86135C>G (p.Pro28712Arg)
c.67751C>G (p.Pro22584Arg)
c.89246C>G (p.Pro29749Arg)
c.89243C>G (p.Pro29748Arg)
c.88676C>G (p.Pro29559Arg)
c.86018C>G (p.Pro28673Arg)
c.85937C>G (p.Pro28646Arg)
c.67700C>G (p.Pro22567Arg)
c.57554C>G (p.Pro19185Arg)
2g.178546623G=CA1310523257TTN,TTN-AS1c.87101C= (p.Pro29034=)
c.68186C= (p.Pro22729=)
c.67985C= (p.Pro22662=)
c.67610C= (p.Pro22537=)
c.94805C= (p.Pro31602=)
c.89882C= (p.Pro29961=)
n.446+22987G=
n.2043+4262G=
c.93902C= (p.Pro31301=)
c.67796C= (p.Pro22599=)
c.67655C= (p.Pro22552=)
c.93698C= (p.Pro31233=)
c.89096C= (p.Pro29699=)
c.89093C= (p.Pro29698=)
c.86135C= (p.Pro28712=)
c.67751C= (p.Pro22584=)
c.89246C= (p.Pro29749=)
c.89243C= (p.Pro29748=)
c.88676C= (p.Pro29559=)
c.86018C= (p.Pro28673=)
c.85937C= (p.Pro28646=)
c.67700C= (p.Pro22567=)
c.57554C= (p.Pro19185=)
2g.178546623G>TCA349470178TTN,TTN-AS1c.87101C>A (p.Pro29034His)
c.68186C>A (p.Pro22729His)
c.67985C>A (p.Pro22662His)
c.67610C>A (p.Pro22537His)
c.94805C>A (p.Pro31602His)
c.89882C>A (p.Pro29961His)
n.446+22987G>T
n.2043+4262G>T
c.93902C>A (p.Pro31301His)
c.67796C>A (p.Pro22599His)
c.67655C>A (p.Pro22552His)
c.93698C>A (p.Pro31233His)
c.89096C>A (p.Pro29699His)
c.89093C>A (p.Pro29698His)
c.86135C>A (p.Pro28712His)
c.67751C>A (p.Pro22584His)
c.89246C>A (p.Pro29749His)
c.89243C>A (p.Pro29748His)
c.88676C>A (p.Pro29559His)
c.86018C>A (p.Pro28673His)
c.85937C>A (p.Pro28646His)
c.67700C>A (p.Pro22567His)
c.57554C>A (p.Pro19185His)
 dbSNP gnomAD v2
2g.178546624G>ACA349470180TTN,TTN-AS1c.87100C>T (p.Pro29034Ser)
c.68185C>T (p.Pro22729Ser)
c.67984C>T (p.Pro22662Ser)
c.67609C>T (p.Pro22537Ser)
c.94804C>T (p.Pro31602Ser)
c.89881C>T (p.Pro29961Ser)
n.446+22988G>A
n.2043+4263G>A
c.93901C>T (p.Pro31301Ser)
c.67795C>T (p.Pro22599Ser)
c.67654C>T (p.Pro22552Ser)
c.93697C>T (p.Pro31233Ser)
c.89095C>T (p.Pro29699Ser)
c.89092C>T (p.Pro29698Ser)
c.86134C>T (p.Pro28712Ser)
c.67750C>T (p.Pro22584Ser)
c.89245C>T (p.Pro29749Ser)
c.89242C>T (p.Pro29748Ser)
c.88675C>T (p.Pro29559Ser)
c.86017C>T (p.Pro28673Ser)
c.85936C>T (p.Pro28646Ser)
c.67699C>T (p.Pro22567Ser)
c.57553C>T (p.Pro19185Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178546624G>CCA349470181TTN,TTN-AS1c.87100C>G (p.Pro29034Ala)
c.68185C>G (p.Pro22729Ala)
c.67984C>G (p.Pro22662Ala)
c.67609C>G (p.Pro22537Ala)
c.94804C>G (p.Pro31602Ala)
c.89881C>G (p.Pro29961Ala)
n.446+22988G>C
n.2043+4263G>C
c.93901C>G (p.Pro31301Ala)
c.67795C>G (p.Pro22599Ala)
c.67654C>G (p.Pro22552Ala)
c.93697C>G (p.Pro31233Ala)
c.89095C>G (p.Pro29699Ala)
c.89092C>G (p.Pro29698Ala)
c.86134C>G (p.Pro28712Ala)
c.67750C>G (p.Pro22584Ala)
c.89245C>G (p.Pro29749Ala)
c.89242C>G (p.Pro29748Ala)
c.88675C>G (p.Pro29559Ala)
c.86017C>G (p.Pro28673Ala)
c.85936C>G (p.Pro28646Ala)
c.67699C>G (p.Pro22567Ala)
c.57553C>G (p.Pro19185Ala)
2g.178546624G=CA1310523261TTN,TTN-AS1c.87100C= (p.Pro29034=)
c.68185C= (p.Pro22729=)
c.67984C= (p.Pro22662=)
c.67609C= (p.Pro22537=)
c.94804C= (p.Pro31602=)
c.89881C= (p.Pro29961=)
n.446+22988G=
n.2043+4263G=
c.93901C= (p.Pro31301=)
c.67795C= (p.Pro22599=)
c.67654C= (p.Pro22552=)
c.93697C= (p.Pro31233=)
c.89095C= (p.Pro29699=)
c.89092C= (p.Pro29698=)
c.86134C= (p.Pro28712=)
c.67750C= (p.Pro22584=)
c.89245C= (p.Pro29749=)
c.89242C= (p.Pro29748=)
c.88675C= (p.Pro29559=)
c.86017C= (p.Pro28673=)
c.85936C= (p.Pro28646=)
c.67699C= (p.Pro22567=)
c.57553C= (p.Pro19185=)
2g.178546624G>TCA349470179TTN,TTN-AS1c.87100C>A (p.Pro29034Thr)
c.68185C>A (p.Pro22729Thr)
c.67984C>A (p.Pro22662Thr)
c.67609C>A (p.Pro22537Thr)
c.94804C>A (p.Pro31602Thr)
c.89881C>A (p.Pro29961Thr)
n.446+22988G>T
n.2043+4263G>T
c.93901C>A (p.Pro31301Thr)
c.67795C>A (p.Pro22599Thr)
c.67654C>A (p.Pro22552Thr)
c.93697C>A (p.Pro31233Thr)
c.89095C>A (p.Pro29699Thr)
c.89092C>A (p.Pro29698Thr)
c.86134C>A (p.Pro28712Thr)
c.67750C>A (p.Pro22584Thr)
c.89245C>A (p.Pro29749Thr)
c.89242C>A (p.Pro29748Thr)
c.88675C>A (p.Pro29559Thr)
c.86017C>A (p.Pro28673Thr)
c.85936C>A (p.Pro28646Thr)
c.67699C>A (p.Pro22567Thr)
c.57553C>A (p.Pro19185Thr)
2g.178546625G>ACA430242348TTN,TTN-AS1c.87099C>T (p.Gly29033=)
c.68184C>T (p.Gly22728=)
c.67983C>T (p.Gly22661=)
c.67608C>T (p.Gly22536=)
c.94803C>T (p.Gly31601=)
c.89880C>T (p.Gly29960=)
n.446+22989G>A
n.2043+4264G>A
c.93900C>T (p.Gly31300=)
c.67794C>T (p.Gly22598=)
c.67653C>T (p.Gly22551=)
c.93696C>T (p.Gly31232=)
c.89094C>T (p.Gly29698=)
c.89091C>T (p.Gly29697=)
c.86133C>T (p.Gly28711=)
c.67749C>T (p.Gly22583=)
c.89244C>T (p.Gly29748=)
c.89241C>T (p.Gly29747=)
c.88674C>T (p.Gly29558=)
c.86016C>T (p.Gly28672=)
c.85935C>T (p.Gly28645=)
c.67698C>T (p.Gly22566=)
c.57552C>T (p.Gly19184=)
2g.178546625G>CCA430242350TTN,TTN-AS1c.87099C>G (p.Gly29033=)
c.68184C>G (p.Gly22728=)
c.67983C>G (p.Gly22661=)
c.67608C>G (p.Gly22536=)
c.94803C>G (p.Gly31601=)
c.89880C>G (p.Gly29960=)
n.446+22989G>C
n.2043+4264G>C
c.93900C>G (p.Gly31300=)
c.67794C>G (p.Gly22598=)
c.67653C>G (p.Gly22551=)
c.93696C>G (p.Gly31232=)
c.89094C>G (p.Gly29698=)
c.89091C>G (p.Gly29697=)
c.86133C>G (p.Gly28711=)
c.67749C>G (p.Gly22583=)
c.89244C>G (p.Gly29748=)
c.89241C>G (p.Gly29747=)
c.88674C>G (p.Gly29558=)
c.86016C>G (p.Gly28672=)
c.85935C>G (p.Gly28645=)
c.67698C>G (p.Gly22566=)
c.57552C>G (p.Gly19184=)
2g.178546625G>TCA430242351TTN,TTN-AS1c.87099C>A (p.Gly29033=)
c.68184C>A (p.Gly22728=)
c.67983C>A (p.Gly22661=)
c.67608C>A (p.Gly22536=)
c.94803C>A (p.Gly31601=)
c.89880C>A (p.Gly29960=)
n.446+22989G>T
n.2043+4264G>T
c.93900C>A (p.Gly31300=)
c.67794C>A (p.Gly22598=)
c.67653C>A (p.Gly22551=)
c.93696C>A (p.Gly31232=)
c.89094C>A (p.Gly29698=)
c.89091C>A (p.Gly29697=)
c.86133C>A (p.Gly28711=)
c.67749C>A (p.Gly22583=)
c.89244C>A (p.Gly29748=)
c.89241C>A (p.Gly29747=)
c.88674C>A (p.Gly29558=)
c.86016C>A (p.Gly28672=)
c.85935C>A (p.Gly28645=)
c.67698C>A (p.Gly22566=)
c.57552C>A (p.Gly19184=)
2g.178546626C>ACA349470182TTN,TTN-AS1c.87098G>T (p.Gly29033Val)
c.68183G>T (p.Gly22728Val)
c.67982G>T (p.Gly22661Val)
c.67607G>T (p.Gly22536Val)
c.94802G>T (p.Gly31601Val)
c.89879G>T (p.Gly29960Val)
n.446+22990C>A
n.2043+4265C>A
c.93899G>T (p.Gly31300Val)
c.67793G>T (p.Gly22598Val)
c.67652G>T (p.Gly22551Val)
c.93695G>T (p.Gly31232Val)
c.89093G>T (p.Gly29698Val)
c.89090G>T (p.Gly29697Val)
c.86132G>T (p.Gly28711Val)
c.67748G>T (p.Gly22583Val)
c.89243G>T (p.Gly29748Val)
c.89240G>T (p.Gly29747Val)
c.88673G>T (p.Gly29558Val)
c.86015G>T (p.Gly28672Val)
c.85934G>T (p.Gly28645Val)
c.67697G>T (p.Gly22566Val)
c.57551G>T (p.Gly19184Val)
2g.178546626C=CA1310523263TTN,TTN-AS1c.87098G= (p.Gly29033=)
c.68183G= (p.Gly22728=)
c.67982G= (p.Gly22661=)
c.67607G= (p.Gly22536=)
c.94802G= (p.Gly31601=)
c.89879G= (p.Gly29960=)
n.446+22990C=
n.2043+4265C=
c.93899G= (p.Gly31300=)
c.67793G= (p.Gly22598=)
c.67652G= (p.Gly22551=)
c.93695G= (p.Gly31232=)
c.89093G= (p.Gly29698=)
c.89090G= (p.Gly29697=)
c.86132G= (p.Gly28711=)
c.67748G= (p.Gly22583=)
c.89243G= (p.Gly29748=)
c.89240G= (p.Gly29747=)
c.88673G= (p.Gly29558=)
c.86015G= (p.Gly28672=)
c.85934G= (p.Gly28645=)
c.67697G= (p.Gly22566=)
c.57551G= (p.Gly19184=)
2g.178546626C>GCA349470183TTN,TTN-AS1c.87098G>C (p.Gly29033Ala)
c.68183G>C (p.Gly22728Ala)
c.67982G>C (p.Gly22661Ala)
c.67607G>C (p.Gly22536Ala)
c.94802G>C (p.Gly31601Ala)
c.89879G>C (p.Gly29960Ala)
n.446+22990C>G
n.2043+4265C>G
c.93899G>C (p.Gly31300Ala)
c.67793G>C (p.Gly22598Ala)
c.67652G>C (p.Gly22551Ala)
c.93695G>C (p.Gly31232Ala)
c.89093G>C (p.Gly29698Ala)
c.89090G>C (p.Gly29697Ala)
c.86132G>C (p.Gly28711Ala)
c.67748G>C (p.Gly22583Ala)
c.89243G>C (p.Gly29748Ala)
c.89240G>C (p.Gly29747Ala)
c.88673G>C (p.Gly29558Ala)
c.86015G>C (p.Gly28672Ala)
c.85934G>C (p.Gly28645Ala)
c.67697G>C (p.Gly22566Ala)
c.57551G>C (p.Gly19184Ala)
2g.178546626C>TCA349470184TTN,TTN-AS1c.87098G>A (p.Gly29033Asp)
c.68183G>A (p.Gly22728Asp)
c.67982G>A (p.Gly22661Asp)
c.67607G>A (p.Gly22536Asp)
c.94802G>A (p.Gly31601Asp)
c.89879G>A (p.Gly29960Asp)
n.446+22990C>T
n.2043+4265C>T
c.93899G>A (p.Gly31300Asp)
c.67793G>A (p.Gly22598Asp)
c.67652G>A (p.Gly22551Asp)
c.93695G>A (p.Gly31232Asp)
c.89093G>A (p.Gly29698Asp)
c.89090G>A (p.Gly29697Asp)
c.86132G>A (p.Gly28711Asp)
c.67748G>A (p.Gly22583Asp)
c.89243G>A (p.Gly29748Asp)
c.89240G>A (p.Gly29747Asp)
c.88673G>A (p.Gly29558Asp)
c.86015G>A (p.Gly28672Asp)
c.85934G>A (p.Gly28645Asp)
c.67697G>A (p.Gly22566Asp)
c.57551G>A (p.Gly19184Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178546626_178546628delCA2560172974TTN,TTN-AS1c.87096_87098del (p.Gly29033del)
c.68181_68183del (p.Gly22728del)
c.67980_67982del (p.Gly22661del)
c.67605_67607del (p.Gly22536del)
c.94800_94802del (p.Gly31601del)
c.89877_89879del (p.Gly29960del)
n.446+22990_446+22992del
n.2043+4265_2043+4267del
c.93897_93899del (p.Gly31300del)
c.67791_67793del (p.Gly22598del)
c.67650_67652del (p.Gly22551del)
c.93693_93695del (p.Gly31232del)
c.89091_89093del (p.Gly29698del)
c.89088_89090del (p.Gly29697del)
c.86130_86132del (p.Gly28711del)
c.67746_67748del (p.Gly22583del)
c.89241_89243del (p.Gly29748del)
c.89238_89240del (p.Gly29747del)
c.88671_88673del (p.Gly29558del)
c.86013_86015del (p.Gly28672del)
c.85932_85934del (p.Gly28645del)
c.67695_67697del (p.Gly22566del)
c.57549_57551del (p.Gly19184del)
2g.178546627C>ACA349470186TTN,TTN-AS1c.87097G>T (p.Gly29033Cys)
c.68182G>T (p.Gly22728Cys)
c.67981G>T (p.Gly22661Cys)
c.67606G>T (p.Gly22536Cys)
c.94801G>T (p.Gly31601Cys)
c.89878G>T (p.Gly29960Cys)
n.446+22991C>A
n.2043+4266C>A
c.93898G>T (p.Gly31300Cys)
c.67792G>T (p.Gly22598Cys)
c.67651G>T (p.Gly22551Cys)
c.93694G>T (p.Gly31232Cys)
c.89092G>T (p.Gly29698Cys)
c.89089G>T (p.Gly29697Cys)
c.86131G>T (p.Gly28711Cys)
c.67747G>T (p.Gly22583Cys)
c.89242G>T (p.Gly29748Cys)
c.89239G>T (p.Gly29747Cys)
c.88672G>T (p.Gly29558Cys)
c.86014G>T (p.Gly28672Cys)
c.85933G>T (p.Gly28645Cys)
c.67696G>T (p.Gly22566Cys)
c.57550G>T (p.Gly19184Cys)
2g.178546627C=CA1310523265TTN,TTN-AS1c.87097G= (p.Gly29033=)
c.68182G= (p.Gly22728=)
c.67981G= (p.Gly22661=)
c.67606G= (p.Gly22536=)
c.94801G= (p.Gly31601=)
c.89878G= (p.Gly29960=)
n.446+22991C=
n.2043+4266C=
c.93898G= (p.Gly31300=)
c.67792G= (p.Gly22598=)
c.67651G= (p.Gly22551=)
c.93694G= (p.Gly31232=)
c.89092G= (p.Gly29698=)
c.89089G= (p.Gly29697=)
c.86131G= (p.Gly28711=)
c.67747G= (p.Gly22583=)
c.89242G= (p.Gly29748=)
c.89239G= (p.Gly29747=)
c.88672G= (p.Gly29558=)
c.86014G= (p.Gly28672=)
c.85933G= (p.Gly28645=)
c.67696G= (p.Gly22566=)
c.57550G= (p.Gly19184=)
2g.178546627C>GCA349470188TTN,TTN-AS1c.87097G>C (p.Gly29033Arg)
c.68182G>C (p.Gly22728Arg)
c.67981G>C (p.Gly22661Arg)
c.67606G>C (p.Gly22536Arg)
c.94801G>C (p.Gly31601Arg)
c.89878G>C (p.Gly29960Arg)
n.446+22991C>G
n.2043+4266C>G
c.93898G>C (p.Gly31300Arg)
c.67792G>C (p.Gly22598Arg)
c.67651G>C (p.Gly22551Arg)
c.93694G>C (p.Gly31232Arg)
c.89092G>C (p.Gly29698Arg)
c.89089G>C (p.Gly29697Arg)
c.86131G>C (p.Gly28711Arg)
c.67747G>C (p.Gly22583Arg)
c.89242G>C (p.Gly29748Arg)
c.89239G>C (p.Gly29747Arg)
c.88672G>C (p.Gly29558Arg)
c.86014G>C (p.Gly28672Arg)
c.85933G>C (p.Gly28645Arg)
c.67696G>C (p.Gly22566Arg)
c.57550G>C (p.Gly19184Arg)
2g.178546627C>TCA1987075TTN,TTN-AS1c.87097G>A (p.Gly29033Ser)
c.68182G>A (p.Gly22728Ser)
c.67981G>A (p.Gly22661Ser)
c.67606G>A (p.Gly22536Ser)
c.94801G>A (p.Gly31601Ser)
c.89878G>A (p.Gly29960Ser)
n.446+22991C>T
n.2043+4266C>T
c.93898G>A (p.Gly31300Ser)
c.67792G>A (p.Gly22598Ser)
c.67651G>A (p.Gly22551Ser)
c.93694G>A (p.Gly31232Ser)
c.89092G>A (p.Gly29698Ser)
c.89089G>A (p.Gly29697Ser)
c.86131G>A (p.Gly28711Ser)
c.67747G>A (p.Gly22583Ser)
c.89242G>A (p.Gly29748Ser)
c.89239G>A (p.Gly29747Ser)
c.88672G>A (p.Gly29558Ser)
c.86014G>A (p.Gly28672Ser)
c.85933G>A (p.Gly28645Ser)
c.67696G>A (p.Gly22566Ser)
c.57550G>A (p.Gly19184Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546628T>ACA430242352TTN,TTN-AS1c.87096A>T (p.Thr29032=)
c.68181A>T (p.Thr22727=)
c.67980A>T (p.Thr22660=)
c.67605A>T (p.Thr22535=)
c.94800A>T (p.Thr31600=)
c.89877A>T (p.Thr29959=)
n.446+22992T>A
n.2043+4267T>A
c.93897A>T (p.Thr31299=)
c.67791A>T (p.Thr22597=)
c.67650A>T (p.Thr22550=)
c.93693A>T (p.Thr31231=)
c.89091A>T (p.Thr29697=)
c.89088A>T (p.Thr29696=)
c.86130A>T (p.Thr28710=)
c.67746A>T (p.Thr22582=)
c.89241A>T (p.Thr29747=)
c.89238A>T (p.Thr29746=)
c.88671A>T (p.Thr29557=)
c.86013A>T (p.Thr28671=)
c.85932A>T (p.Thr28644=)
c.67695A>T (p.Thr22565=)
c.57549A>T (p.Thr19183=)
2g.178546628T>CCA430242353TTN,TTN-AS1c.87096A>G (p.Thr29032=)
c.68181A>G (p.Thr22727=)
c.67980A>G (p.Thr22660=)
c.67605A>G (p.Thr22535=)
c.94800A>G (p.Thr31600=)
c.89877A>G (p.Thr29959=)
n.446+22992T>C
n.2043+4267T>C
c.93897A>G (p.Thr31299=)
c.67791A>G (p.Thr22597=)
c.67650A>G (p.Thr22550=)
c.93693A>G (p.Thr31231=)
c.89091A>G (p.Thr29697=)
c.89088A>G (p.Thr29696=)
c.86130A>G (p.Thr28710=)
c.67746A>G (p.Thr22582=)
c.89241A>G (p.Thr29747=)
c.89238A>G (p.Thr29746=)
c.88671A>G (p.Thr29557=)
c.86013A>G (p.Thr28671=)
c.85932A>G (p.Thr28644=)
c.67695A>G (p.Thr22565=)
c.57549A>G (p.Thr19183=)
2g.178546628T>GCA430242355TTN,TTN-AS1c.87096A>C (p.Thr29032=)
c.68181A>C (p.Thr22727=)
c.67980A>C (p.Thr22660=)
c.67605A>C (p.Thr22535=)
c.94800A>C (p.Thr31600=)
c.89877A>C (p.Thr29959=)
n.446+22992T>G
n.2043+4267T>G
c.93897A>C (p.Thr31299=)
c.67791A>C (p.Thr22597=)
c.67650A>C (p.Thr22550=)
c.93693A>C (p.Thr31231=)
c.89091A>C (p.Thr29697=)
c.89088A>C (p.Thr29696=)
c.86130A>C (p.Thr28710=)
c.67746A>C (p.Thr22582=)
c.89241A>C (p.Thr29747=)
c.89238A>C (p.Thr29746=)
c.88671A>C (p.Thr29557=)
c.86013A>C (p.Thr28671=)
c.85932A>C (p.Thr28644=)
c.67695A>C (p.Thr22565=)
c.57549A>C (p.Thr19183=)
2g.178546629G>ACA349470193TTN,TTN-AS1c.87095C>T (p.Thr29032Ile)
c.68180C>T (p.Thr22727Ile)
c.67979C>T (p.Thr22660Ile)
c.67604C>T (p.Thr22535Ile)
c.94799C>T (p.Thr31600Ile)
c.89876C>T (p.Thr29959Ile)
n.446+22993G>A
n.2043+4268G>A
c.93896C>T (p.Thr31299Ile)
c.67790C>T (p.Thr22597Ile)
c.67649C>T (p.Thr22550Ile)
c.93692C>T (p.Thr31231Ile)
c.89090C>T (p.Thr29697Ile)
c.89087C>T (p.Thr29696Ile)
c.86129C>T (p.Thr28710Ile)
c.67745C>T (p.Thr22582Ile)
c.89240C>T (p.Thr29747Ile)
c.89237C>T (p.Thr29746Ile)
c.88670C>T (p.Thr29557Ile)
c.86012C>T (p.Thr28671Ile)
c.85931C>T (p.Thr28644Ile)
c.67694C>T (p.Thr22565Ile)
c.57548C>T (p.Thr19183Ile)
2g.178546629G>CCA349470199TTN,TTN-AS1c.87095C>G (p.Thr29032Arg)
c.68180C>G (p.Thr22727Arg)
c.67979C>G (p.Thr22660Arg)
c.67604C>G (p.Thr22535Arg)
c.94799C>G (p.Thr31600Arg)
c.89876C>G (p.Thr29959Arg)
n.446+22993G>C
n.2043+4268G>C
c.93896C>G (p.Thr31299Arg)
c.67790C>G (p.Thr22597Arg)
c.67649C>G (p.Thr22550Arg)
c.93692C>G (p.Thr31231Arg)
c.89090C>G (p.Thr29697Arg)
c.89087C>G (p.Thr29696Arg)
c.86129C>G (p.Thr28710Arg)
c.67745C>G (p.Thr22582Arg)
c.89240C>G (p.Thr29747Arg)
c.89237C>G (p.Thr29746Arg)
c.88670C>G (p.Thr29557Arg)
c.86012C>G (p.Thr28671Arg)
c.85931C>G (p.Thr28644Arg)
c.67694C>G (p.Thr22565Arg)
c.57548C>G (p.Thr19183Arg)
2g.178546629G>TCA349470205TTN,TTN-AS1c.87095C>A (p.Thr29032Lys)
c.68180C>A (p.Thr22727Lys)
c.67979C>A (p.Thr22660Lys)
c.67604C>A (p.Thr22535Lys)
c.94799C>A (p.Thr31600Lys)
c.89876C>A (p.Thr29959Lys)
n.446+22993G>T
n.2043+4268G>T
c.93896C>A (p.Thr31299Lys)
c.67790C>A (p.Thr22597Lys)
c.67649C>A (p.Thr22550Lys)
c.93692C>A (p.Thr31231Lys)
c.89090C>A (p.Thr29697Lys)
c.89087C>A (p.Thr29696Lys)
c.86129C>A (p.Thr28710Lys)
c.67745C>A (p.Thr22582Lys)
c.89240C>A (p.Thr29747Lys)
c.89237C>A (p.Thr29746Lys)
c.88670C>A (p.Thr29557Lys)
c.86012C>A (p.Thr28671Lys)
c.85931C>A (p.Thr28644Lys)
c.67694C>A (p.Thr22565Lys)
c.57548C>A (p.Thr19183Lys)
2g.178546630T>ACA349470224TTN,TTN-AS1c.87094A>T (p.Thr29032Ser)
c.68179A>T (p.Thr22727Ser)
c.67978A>T (p.Thr22660Ser)
c.67603A>T (p.Thr22535Ser)
c.94798A>T (p.Thr31600Ser)
c.89875A>T (p.Thr29959Ser)
n.446+22994T>A
n.2043+4269T>A
c.93895A>T (p.Thr31299Ser)
c.67789A>T (p.Thr22597Ser)
c.67648A>T (p.Thr22550Ser)
c.93691A>T (p.Thr31231Ser)
c.89089A>T (p.Thr29697Ser)
c.89086A>T (p.Thr29696Ser)
c.86128A>T (p.Thr28710Ser)
c.67744A>T (p.Thr22582Ser)
c.89239A>T (p.Thr29747Ser)
c.89236A>T (p.Thr29746Ser)
c.88669A>T (p.Thr29557Ser)
c.86011A>T (p.Thr28671Ser)
c.85930A>T (p.Thr28644Ser)
c.67693A>T (p.Thr22565Ser)
c.57547A>T (p.Thr19183Ser)
2g.178546630T>CCA349470236TTN,TTN-AS1c.87094A>G (p.Thr29032Ala)
c.68179A>G (p.Thr22727Ala)
c.67978A>G (p.Thr22660Ala)
c.67603A>G (p.Thr22535Ala)
c.94798A>G (p.Thr31600Ala)
c.89875A>G (p.Thr29959Ala)
n.446+22994T>C
n.2043+4269T>C
c.93895A>G (p.Thr31299Ala)
c.67789A>G (p.Thr22597Ala)
c.67648A>G (p.Thr22550Ala)
c.93691A>G (p.Thr31231Ala)
c.89089A>G (p.Thr29697Ala)
c.89086A>G (p.Thr29696Ala)
c.86128A>G (p.Thr28710Ala)
c.67744A>G (p.Thr22582Ala)
c.89239A>G (p.Thr29747Ala)
c.89236A>G (p.Thr29746Ala)
c.88669A>G (p.Thr29557Ala)
c.86011A>G (p.Thr28671Ala)
c.85930A>G (p.Thr28644Ala)
c.67693A>G (p.Thr22565Ala)
c.57547A>G (p.Thr19183Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178546630T>GCA349470241TTN,TTN-AS1c.87094A>C (p.Thr29032Pro)
c.68179A>C (p.Thr22727Pro)
c.67978A>C (p.Thr22660Pro)
c.67603A>C (p.Thr22535Pro)
c.94798A>C (p.Thr31600Pro)
c.89875A>C (p.Thr29959Pro)
n.446+22994T>G
n.2043+4269T>G
c.93895A>C (p.Thr31299Pro)
c.67789A>C (p.Thr22597Pro)
c.67648A>C (p.Thr22550Pro)
c.93691A>C (p.Thr31231Pro)
c.89089A>C (p.Thr29697Pro)
c.89086A>C (p.Thr29696Pro)
c.86128A>C (p.Thr28710Pro)
c.67744A>C (p.Thr22582Pro)
c.89239A>C (p.Thr29747Pro)
c.89236A>C (p.Thr29746Pro)
c.88669A>C (p.Thr29557Pro)
c.86011A>C (p.Thr28671Pro)
c.85930A>C (p.Thr28644Pro)
c.67693A>C (p.Thr22565Pro)
c.57547A>C (p.Thr19183Pro)
2g.178546630T=CA1310523267TTN,TTN-AS1c.87094A= (p.Thr29032=)
c.68179A= (p.Thr22727=)
c.67978A= (p.Thr22660=)
c.67603A= (p.Thr22535=)
c.94798A= (p.Thr31600=)
c.89875A= (p.Thr29959=)
n.446+22994T=
n.2043+4269T=
c.93895A= (p.Thr31299=)
c.67789A= (p.Thr22597=)
c.67648A= (p.Thr22550=)
c.93691A= (p.Thr31231=)
c.89089A= (p.Thr29697=)
c.89086A= (p.Thr29696=)
c.86128A= (p.Thr28710=)
c.67744A= (p.Thr22582=)
c.89239A= (p.Thr29747=)
c.89236A= (p.Thr29746=)
c.88669A= (p.Thr29557=)
c.86011A= (p.Thr28671=)
c.85930A= (p.Thr28644=)
c.67693A= (p.Thr22565=)
c.57547A= (p.Thr19183=)
2g.178546631A=CA1310523269TTN,TTN-AS1c.87093T= (p.Ser29031=)
c.68178T= (p.Ser22726=)
c.67977T= (p.Ser22659=)
c.67602T= (p.Ser22534=)
c.94797T= (p.Ser31599=)
c.89874T= (p.Ser29958=)
n.446+22995A=
n.2043+4270A=
c.93894T= (p.Ser31298=)
c.67788T= (p.Ser22596=)
c.67647T= (p.Ser22549=)
c.93690T= (p.Ser31230=)
c.89088T= (p.Ser29696=)
c.89085T= (p.Ser29695=)
c.86127T= (p.Ser28709=)
c.67743T= (p.Ser22581=)
c.89238T= (p.Ser29746=)
c.89235T= (p.Ser29745=)
c.88668T= (p.Ser29556=)
c.86010T= (p.Ser28670=)
c.85929T= (p.Ser28643=)
c.67692T= (p.Ser22564=)
c.57546T= (p.Ser19182=)
2g.178546631A>CCA430242356TTN,TTN-AS1c.87093T>G (p.Ser29031=)
c.68178T>G (p.Ser22726=)
c.67977T>G (p.Ser22659=)
c.67602T>G (p.Ser22534=)
c.94797T>G (p.Ser31599=)
c.89874T>G (p.Ser29958=)
n.446+22995A>C
n.2043+4270A>C
c.93894T>G (p.Ser31298=)
c.67788T>G (p.Ser22596=)
c.67647T>G (p.Ser22549=)
c.93690T>G (p.Ser31230=)
c.89088T>G (p.Ser29696=)
c.89085T>G (p.Ser29695=)
c.86127T>G (p.Ser28709=)
c.67743T>G (p.Ser22581=)
c.89238T>G (p.Ser29746=)
c.89235T>G (p.Ser29745=)
c.88668T>G (p.Ser29556=)
c.86010T>G (p.Ser28670=)
c.85929T>G (p.Ser28643=)
c.67692T>G (p.Ser22564=)
c.57546T>G (p.Ser19182=)
2g.178546631A>GCA60972488TTN,TTN-AS1c.87093T>C (p.Ser29031=)
c.68178T>C (p.Ser22726=)
c.67977T>C (p.Ser22659=)
c.67602T>C (p.Ser22534=)
c.94797T>C (p.Ser31599=)
c.89874T>C (p.Ser29958=)
n.446+22995A>G
n.2043+4270A>G
c.93894T>C (p.Ser31298=)
c.67788T>C (p.Ser22596=)
c.67647T>C (p.Ser22549=)
c.93690T>C (p.Ser31230=)
c.89088T>C (p.Ser29696=)
c.89085T>C (p.Ser29695=)
c.86127T>C (p.Ser28709=)
c.67743T>C (p.Ser22581=)
c.89238T>C (p.Ser29746=)
c.89235T>C (p.Ser29745=)
c.88668T>C (p.Ser29556=)
c.86010T>C (p.Ser28670=)
c.85929T>C (p.Ser28643=)
c.67692T>C (p.Ser22564=)
c.57546T>C (p.Ser19182=)
 ClinVar dbSNP gnomAD v4
2g.178546631A>TCA430242358TTN,TTN-AS1c.87093T>A (p.Ser29031=)
c.68178T>A (p.Ser22726=)
c.67977T>A (p.Ser22659=)
c.67602T>A (p.Ser22534=)
c.94797T>A (p.Ser31599=)
c.89874T>A (p.Ser29958=)
n.446+22995A>T
n.2043+4270A>T
c.93894T>A (p.Ser31298=)
c.67788T>A (p.Ser22596=)
c.67647T>A (p.Ser22549=)
c.93690T>A (p.Ser31230=)
c.89088T>A (p.Ser29696=)
c.89085T>A (p.Ser29695=)
c.86127T>A (p.Ser28709=)
c.67743T>A (p.Ser22581=)
c.89238T>A (p.Ser29746=)
c.89235T>A (p.Ser29745=)
c.88668T>A (p.Ser29556=)
c.86010T>A (p.Ser28670=)
c.85929T>A (p.Ser28643=)
c.67692T>A (p.Ser22564=)
c.57546T>A (p.Ser19182=)
2g.178546632G>ACA349470278TTN,TTN-AS1c.87092C>T (p.Ser29031Phe)
c.68177C>T (p.Ser22726Phe)
c.67976C>T (p.Ser22659Phe)
c.67601C>T (p.Ser22534Phe)
c.94796C>T (p.Ser31599Phe)
c.89873C>T (p.Ser29958Phe)
n.446+22996G>A
n.2043+4271G>A
c.93893C>T (p.Ser31298Phe)
c.67787C>T (p.Ser22596Phe)
c.67646C>T (p.Ser22549Phe)
c.93689C>T (p.Ser31230Phe)
c.89087C>T (p.Ser29696Phe)
c.89084C>T (p.Ser29695Phe)
c.86126C>T (p.Ser28709Phe)
c.67742C>T (p.Ser22581Phe)
c.89237C>T (p.Ser29746Phe)
c.89234C>T (p.Ser29745Phe)
c.88667C>T (p.Ser29556Phe)
c.86009C>T (p.Ser28670Phe)
c.85928C>T (p.Ser28643Phe)
c.67691C>T (p.Ser22564Phe)
c.57545C>T (p.Ser19182Phe)
 dbSNP gnomAD v4
2g.178546632G>CCA349470274TTN,TTN-AS1c.87092C>G (p.Ser29031Cys)
c.68177C>G (p.Ser22726Cys)
c.67976C>G (p.Ser22659Cys)
c.67601C>G (p.Ser22534Cys)
c.94796C>G (p.Ser31599Cys)
c.89873C>G (p.Ser29958Cys)
n.446+22996G>C
n.2043+4271G>C
c.93893C>G (p.Ser31298Cys)
c.67787C>G (p.Ser22596Cys)
c.67646C>G (p.Ser22549Cys)
c.93689C>G (p.Ser31230Cys)
c.89087C>G (p.Ser29696Cys)
c.89084C>G (p.Ser29695Cys)
c.86126C>G (p.Ser28709Cys)
c.67742C>G (p.Ser22581Cys)
c.89237C>G (p.Ser29746Cys)
c.89234C>G (p.Ser29745Cys)
c.88667C>G (p.Ser29556Cys)
c.86009C>G (p.Ser28670Cys)
c.85928C>G (p.Ser28643Cys)
c.67691C>G (p.Ser22564Cys)
c.57545C>G (p.Ser19182Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178546632G=CA1310523272TTN,TTN-AS1c.87092C= (p.Ser29031=)
c.68177C= (p.Ser22726=)
c.67976C= (p.Ser22659=)
c.67601C= (p.Ser22534=)
c.94796C= (p.Ser31599=)
c.89873C= (p.Ser29958=)
n.446+22996G=
n.2043+4271G=
c.93893C= (p.Ser31298=)
c.67787C= (p.Ser22596=)
c.67646C= (p.Ser22549=)
c.93689C= (p.Ser31230=)
c.89087C= (p.Ser29696=)
c.89084C= (p.Ser29695=)
c.86126C= (p.Ser28709=)
c.67742C= (p.Ser22581=)
c.89237C= (p.Ser29746=)
c.89234C= (p.Ser29745=)
c.88667C= (p.Ser29556=)
c.86009C= (p.Ser28670=)
c.85928C= (p.Ser28643=)
c.67691C= (p.Ser22564=)
c.57545C= (p.Ser19182=)
2g.178546632G>TCA349470263TTN,TTN-AS1c.87092C>A (p.Ser29031Tyr)
c.68177C>A (p.Ser22726Tyr)
c.67976C>A (p.Ser22659Tyr)
c.67601C>A (p.Ser22534Tyr)
c.94796C>A (p.Ser31599Tyr)
c.89873C>A (p.Ser29958Tyr)
n.446+22996G>T
n.2043+4271G>T
c.93893C>A (p.Ser31298Tyr)
c.67787C>A (p.Ser22596Tyr)
c.67646C>A (p.Ser22549Tyr)
c.93689C>A (p.Ser31230Tyr)
c.89087C>A (p.Ser29696Tyr)
c.89084C>A (p.Ser29695Tyr)
c.86126C>A (p.Ser28709Tyr)
c.67742C>A (p.Ser22581Tyr)
c.89237C>A (p.Ser29746Tyr)
c.89234C>A (p.Ser29745Tyr)
c.88667C>A (p.Ser29556Tyr)
c.86009C>A (p.Ser28670Tyr)
c.85928C>A (p.Ser28643Tyr)
c.67691C>A (p.Ser22564Tyr)
c.57545C>A (p.Ser19182Tyr)
2g.178546633A=CA1310523274TTN,TTN-AS1c.87091T= (p.Ser29031=)
c.68176T= (p.Ser22726=)
c.67975T= (p.Ser22659=)
c.67600T= (p.Ser22534=)
c.94795T= (p.Ser31599=)
c.89872T= (p.Ser29958=)
n.446+22997A=
n.2043+4272A=
c.93892T= (p.Ser31298=)
c.67786T= (p.Ser22596=)
c.67645T= (p.Ser22549=)
c.93688T= (p.Ser31230=)
c.89086T= (p.Ser29696=)
c.89083T= (p.Ser29695=)
c.86125T= (p.Ser28709=)
c.67741T= (p.Ser22581=)
c.89236T= (p.Ser29746=)
c.89233T= (p.Ser29745=)
c.88666T= (p.Ser29556=)
c.86008T= (p.Ser28670=)
c.85927T= (p.Ser28643=)
c.67690T= (p.Ser22564=)
c.57544T= (p.Ser19182=)
2g.178546633A>CCA349470289TTN,TTN-AS1c.87091T>G (p.Ser29031Ala)
c.68176T>G (p.Ser22726Ala)
c.67975T>G (p.Ser22659Ala)
c.67600T>G (p.Ser22534Ala)
c.94795T>G (p.Ser31599Ala)
c.89872T>G (p.Ser29958Ala)
n.446+22997A>C
n.2043+4272A>C
c.93892T>G (p.Ser31298Ala)
c.67786T>G (p.Ser22596Ala)
c.67645T>G (p.Ser22549Ala)
c.93688T>G (p.Ser31230Ala)
c.89086T>G (p.Ser29696Ala)
c.89083T>G (p.Ser29695Ala)
c.86125T>G (p.Ser28709Ala)
c.67741T>G (p.Ser22581Ala)
c.89236T>G (p.Ser29746Ala)
c.89233T>G (p.Ser29745Ala)
c.88666T>G (p.Ser29556Ala)
c.86008T>G (p.Ser28670Ala)
c.85927T>G (p.Ser28643Ala)
c.67690T>G (p.Ser22564Ala)
c.57544T>G (p.Ser19182Ala)
 dbSNP
2g.178546633A>GCA349470292TTN,TTN-AS1c.87091T>C (p.Ser29031Pro)
c.68176T>C (p.Ser22726Pro)
c.67975T>C (p.Ser22659Pro)
c.67600T>C (p.Ser22534Pro)
c.94795T>C (p.Ser31599Pro)
c.89872T>C (p.Ser29958Pro)
n.446+22997A>G
n.2043+4272A>G
c.93892T>C (p.Ser31298Pro)
c.67786T>C (p.Ser22596Pro)
c.67645T>C (p.Ser22549Pro)
c.93688T>C (p.Ser31230Pro)
c.89086T>C (p.Ser29696Pro)
c.89083T>C (p.Ser29695Pro)
c.86125T>C (p.Ser28709Pro)
c.67741T>C (p.Ser22581Pro)
c.89236T>C (p.Ser29746Pro)
c.89233T>C (p.Ser29745Pro)
c.88666T>C (p.Ser29556Pro)
c.86008T>C (p.Ser28670Pro)
c.85927T>C (p.Ser28643Pro)
c.67690T>C (p.Ser22564Pro)
c.57544T>C (p.Ser19182Pro)
2g.178546633A>TCA1987076TTN,TTN-AS1c.87091T>A (p.Ser29031Thr)
c.68176T>A (p.Ser22726Thr)
c.67975T>A (p.Ser22659Thr)
c.67600T>A (p.Ser22534Thr)
c.94795T>A (p.Ser31599Thr)
c.89872T>A (p.Ser29958Thr)
n.446+22997A>T
n.2043+4272A>T
c.93892T>A (p.Ser31298Thr)
c.67786T>A (p.Ser22596Thr)
c.67645T>A (p.Ser22549Thr)
c.93688T>A (p.Ser31230Thr)
c.89086T>A (p.Ser29696Thr)
c.89083T>A (p.Ser29695Thr)
c.86125T>A (p.Ser28709Thr)
c.67741T>A (p.Ser22581Thr)
c.89236T>A (p.Ser29746Thr)
c.89233T>A (p.Ser29745Thr)
c.88666T>A (p.Ser29556Thr)
c.86008T>A (p.Ser28670Thr)
c.85927T>A (p.Ser28643Thr)
c.67690T>A (p.Ser22564Thr)
c.57544T>A (p.Ser19182Thr)
 dbSNP ExAC gnomAD v2
2g.178546634T>ACA349470301TTN,TTN-AS1c.87090A>T (p.Glu29030Asp)
c.68175A>T (p.Glu22725Asp)
c.67974A>T (p.Glu22658Asp)
c.67599A>T (p.Glu22533Asp)
c.94794A>T (p.Glu31598Asp)
c.89871A>T (p.Glu29957Asp)
n.446+22998T>A
n.2043+4273T>A
c.93891A>T (p.Glu31297Asp)
c.67785A>T (p.Glu22595Asp)
c.67644A>T (p.Glu22548Asp)
c.93687A>T (p.Glu31229Asp)
c.89085A>T (p.Glu29695Asp)
c.89082A>T (p.Glu29694Asp)
c.86124A>T (p.Glu28708Asp)
c.67740A>T (p.Glu22580Asp)
c.89235A>T (p.Glu29745Asp)
c.89232A>T (p.Glu29744Asp)
c.88665A>T (p.Glu29555Asp)
c.86007A>T (p.Glu28669Asp)
c.85926A>T (p.Glu28642Asp)
c.67689A>T (p.Glu22563Asp)
c.57543A>T (p.Glu19181Asp)
2g.178546634T>CCA10606863TTN,TTN-AS1c.87090A>G (p.Glu29030=)
c.68175A>G (p.Glu22725=)
c.67974A>G (p.Glu22658=)
c.67599A>G (p.Glu22533=)
c.94794A>G (p.Glu31598=)
c.89871A>G (p.Glu29957=)
n.446+22998T>C
n.2043+4273T>C
c.93891A>G (p.Glu31297=)
c.67785A>G (p.Glu22595=)
c.67644A>G (p.Glu22548=)
c.93687A>G (p.Glu31229=)
c.89085A>G (p.Glu29695=)
c.89082A>G (p.Glu29694=)
c.86124A>G (p.Glu28708=)
c.67740A>G (p.Glu22580=)
c.89235A>G (p.Glu29745=)
c.89232A>G (p.Glu29744=)
c.88665A>G (p.Glu29555=)
c.86007A>G (p.Glu28669=)
c.85926A>G (p.Glu28642=)
c.67689A>G (p.Glu22563=)
c.57543A>G (p.Glu19181=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546634T>GCA349470304TTN,TTN-AS1c.87090A>C (p.Glu29030Asp)
c.68175A>C (p.Glu22725Asp)
c.67974A>C (p.Glu22658Asp)
c.67599A>C (p.Glu22533Asp)
c.94794A>C (p.Glu31598Asp)
c.89871A>C (p.Glu29957Asp)
n.446+22998T>G
n.2043+4273T>G
c.93891A>C (p.Glu31297Asp)
c.67785A>C (p.Glu22595Asp)
c.67644A>C (p.Glu22548Asp)
c.93687A>C (p.Glu31229Asp)
c.89085A>C (p.Glu29695Asp)
c.89082A>C (p.Glu29694Asp)
c.86124A>C (p.Glu28708Asp)
c.67740A>C (p.Glu22580Asp)
c.89235A>C (p.Glu29745Asp)
c.89232A>C (p.Glu29744Asp)
c.88665A>C (p.Glu29555Asp)
c.86007A>C (p.Glu28669Asp)
c.85926A>C (p.Glu28642Asp)
c.67689A>C (p.Glu22563Asp)
c.57543A>C (p.Glu19181Asp)
2g.178546634T=CA1310523276TTN,TTN-AS1c.87090A= (p.Glu29030=)
c.68175A= (p.Glu22725=)
c.67974A= (p.Glu22658=)
c.67599A= (p.Glu22533=)
c.94794A= (p.Glu31598=)
c.89871A= (p.Glu29957=)
n.446+22998T=
n.2043+4273T=
c.93891A= (p.Glu31297=)
c.67785A= (p.Glu22595=)
c.67644A= (p.Glu22548=)
c.93687A= (p.Glu31229=)
c.89085A= (p.Glu29695=)
c.89082A= (p.Glu29694=)
c.86124A= (p.Glu28708=)
c.67740A= (p.Glu22580=)
c.89235A= (p.Glu29745=)
c.89232A= (p.Glu29744=)
c.88665A= (p.Glu29555=)
c.86007A= (p.Glu28669=)
c.85926A= (p.Glu28642=)
c.67689A= (p.Glu22563=)
c.57543A= (p.Glu19181=)

Number of alleles fetched