Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178551581T>CCA2662127064TTN,TTN-AS1c.83566+49A>G (n.83566+49A>G)
c.64651+49A>G (n.64651+49A>G)
c.64450+49A>G (n.64450+49A>G)
c.64075+49A>G (n.64075+49A>G)
c.91270+49A>G (n.91270+49A>G)
c.86347+49A>G (n.86347+49A>G)
n.447-19719T>C
n.2043+9220T>C
c.90367+49A>G (n.90367+49A>G)
c.64261+49A>G (n.64261+49A>G)
c.64120+49A>G (n.64120+49A>G)
c.90163+49A>G (n.90163+49A>G)
c.85561+49A>G (n.85561+49A>G)
c.85558+49A>G (n.85558+49A>G)
c.82600+49A>G (n.82600+49A>G)
c.64216+49A>G (n.64216+49A>G)
c.85711+49A>G (n.85711+49A>G)
c.85708+49A>G (n.85708+49A>G)
c.85141+49A>G (n.85141+49A>G)
c.82483+49A>G (n.82483+49A>G)
c.82402+49A>G (n.82402+49A>G)
c.64165+49A>G (n.64165+49A>G)
c.54019+49A>G (n.54019+49A>G)
 gnomAD v4
2g.178551582A>CCA2662127067TTN,TTN-AS1c.83566+48T>G (n.83566+48T>G)
c.64651+48T>G (n.64651+48T>G)
c.64450+48T>G (n.64450+48T>G)
c.64075+48T>G (n.64075+48T>G)
c.91270+48T>G (n.91270+48T>G)
c.86347+48T>G (n.86347+48T>G)
n.447-19718A>C
n.2043+9221A>C
c.90367+48T>G (n.90367+48T>G)
c.64261+48T>G (n.64261+48T>G)
c.64120+48T>G (n.64120+48T>G)
c.90163+48T>G (n.90163+48T>G)
c.85561+48T>G (n.85561+48T>G)
c.85558+48T>G (n.85558+48T>G)
c.82600+48T>G (n.82600+48T>G)
c.64216+48T>G (n.64216+48T>G)
c.85711+48T>G (n.85711+48T>G)
c.85708+48T>G (n.85708+48T>G)
c.85141+48T>G (n.85141+48T>G)
c.82483+48T>G (n.82483+48T>G)
c.82402+48T>G (n.82402+48T>G)
c.64165+48T>G (n.64165+48T>G)
c.54019+48T>G (n.54019+48T>G)
 gnomAD v4
2g.178551582_178551583dupCA2662127065TTN,TTN-AS1c.83566+47_83566+48dup (n.83566+47_83566+48dup)
c.64651+47_64651+48dup (n.64651+47_64651+48dup)
c.64450+47_64450+48dup (n.64450+47_64450+48dup)
c.64075+47_64075+48dup (n.64075+47_64075+48dup)
c.91270+47_91270+48dup (n.91270+47_91270+48dup)
c.86347+47_86347+48dup (n.86347+47_86347+48dup)
n.447-19718_447-19717dup
n.2043+9221_2043+9222dup
c.90367+47_90367+48dup (n.90367+47_90367+48dup)
c.64261+47_64261+48dup (n.64261+47_64261+48dup)
c.64120+47_64120+48dup (n.64120+47_64120+48dup)
c.90163+47_90163+48dup (n.90163+47_90163+48dup)
c.85561+47_85561+48dup (n.85561+47_85561+48dup)
c.85558+47_85558+48dup (n.85558+47_85558+48dup)
c.82600+47_82600+48dup (n.82600+47_82600+48dup)
c.64216+47_64216+48dup (n.64216+47_64216+48dup)
c.85711+47_85711+48dup (n.85711+47_85711+48dup)
c.85708+47_85708+48dup (n.85708+47_85708+48dup)
c.85141+47_85141+48dup (n.85141+47_85141+48dup)
c.82483+47_82483+48dup (n.82483+47_82483+48dup)
c.82402+47_82402+48dup (n.82402+47_82402+48dup)
c.64165+47_64165+48dup (n.64165+47_64165+48dup)
c.54019+47_54019+48dup (n.54019+47_54019+48dup)
 gnomAD v4
2g.178551587G>CCA2662127070TTN,TTN-AS1c.83566+43C>G (n.83566+43C>G)
c.64651+43C>G (n.64651+43C>G)
c.64450+43C>G (n.64450+43C>G)
c.64075+43C>G (n.64075+43C>G)
c.91270+43C>G (n.91270+43C>G)
c.86347+43C>G (n.86347+43C>G)
n.447-19713G>C
n.2043+9226G>C
c.90367+43C>G (n.90367+43C>G)
c.64261+43C>G (n.64261+43C>G)
c.64120+43C>G (n.64120+43C>G)
c.90163+43C>G (n.90163+43C>G)
c.85561+43C>G (n.85561+43C>G)
c.85558+43C>G (n.85558+43C>G)
c.82600+43C>G (n.82600+43C>G)
c.64216+43C>G (n.64216+43C>G)
c.85711+43C>G (n.85711+43C>G)
c.85708+43C>G (n.85708+43C>G)
c.85141+43C>G (n.85141+43C>G)
c.82483+43C>G (n.82483+43C>G)
c.82402+43C>G (n.82402+43C>G)
c.64165+43C>G (n.64165+43C>G)
c.54019+43C>G (n.54019+43C>G)
 gnomAD v4
2g.178551587G>TCA2577170417TTN,TTN-AS1c.83566+43C>A (n.83566+43C>A)
c.64651+43C>A (n.64651+43C>A)
c.64450+43C>A (n.64450+43C>A)
c.64075+43C>A (n.64075+43C>A)
c.91270+43C>A (n.91270+43C>A)
c.86347+43C>A (n.86347+43C>A)
n.447-19713G>T
n.2043+9226G>T
c.90367+43C>A (n.90367+43C>A)
c.64261+43C>A (n.64261+43C>A)
c.64120+43C>A (n.64120+43C>A)
c.90163+43C>A (n.90163+43C>A)
c.85561+43C>A (n.85561+43C>A)
c.85558+43C>A (n.85558+43C>A)
c.82600+43C>A (n.82600+43C>A)
c.64216+43C>A (n.64216+43C>A)
c.85711+43C>A (n.85711+43C>A)
c.85708+43C>A (n.85708+43C>A)
c.85141+43C>A (n.85141+43C>A)
c.82483+43C>A (n.82483+43C>A)
c.82402+43C>A (n.82402+43C>A)
c.64165+43C>A (n.64165+43C>A)
c.54019+43C>A (n.54019+43C>A)
 gnomAD v4
2g.178551589T>GCA2662127072TTN,TTN-AS1c.83566+41A>C (n.83566+41A>C)
c.64651+41A>C (n.64651+41A>C)
c.64450+41A>C (n.64450+41A>C)
c.64075+41A>C (n.64075+41A>C)
c.91270+41A>C (n.91270+41A>C)
c.86347+41A>C (n.86347+41A>C)
n.447-19711T>G
n.2043+9228T>G
c.90367+41A>C (n.90367+41A>C)
c.64261+41A>C (n.64261+41A>C)
c.64120+41A>C (n.64120+41A>C)
c.90163+41A>C (n.90163+41A>C)
c.85561+41A>C (n.85561+41A>C)
c.85558+41A>C (n.85558+41A>C)
c.82600+41A>C (n.82600+41A>C)
c.64216+41A>C (n.64216+41A>C)
c.85711+41A>C (n.85711+41A>C)
c.85708+41A>C (n.85708+41A>C)
c.85141+41A>C (n.85141+41A>C)
c.82483+41A>C (n.82483+41A>C)
c.82402+41A>C (n.82402+41A>C)
c.64165+41A>C (n.64165+41A>C)
c.54019+41A>C (n.54019+41A>C)
 gnomAD v4
2g.178551590C>ACA2662127074TTN,TTN-AS1c.83566+40G>T (n.83566+40G>T)
c.64651+40G>T (n.64651+40G>T)
c.64450+40G>T (n.64450+40G>T)
c.64075+40G>T (n.64075+40G>T)
c.91270+40G>T (n.91270+40G>T)
c.86347+40G>T (n.86347+40G>T)
n.447-19710C>A
n.2043+9229C>A
c.90367+40G>T (n.90367+40G>T)
c.64261+40G>T (n.64261+40G>T)
c.64120+40G>T (n.64120+40G>T)
c.90163+40G>T (n.90163+40G>T)
c.85561+40G>T (n.85561+40G>T)
c.85558+40G>T (n.85558+40G>T)
c.82600+40G>T (n.82600+40G>T)
c.64216+40G>T (n.64216+40G>T)
c.85711+40G>T (n.85711+40G>T)
c.85708+40G>T (n.85708+40G>T)
c.85141+40G>T (n.85141+40G>T)
c.82483+40G>T (n.82483+40G>T)
c.82402+40G>T (n.82402+40G>T)
c.64165+40G>T (n.64165+40G>T)
c.54019+40G>T (n.54019+40G>T)
 gnomAD v4
2g.178551590C=CA1310521102TTN,TTN-AS1c.83566+40G= (n.83566+40G=)
c.64651+40G= (n.64651+40G=)
c.64450+40G= (n.64450+40G=)
c.64075+40G= (n.64075+40G=)
c.91270+40G= (n.91270+40G=)
c.86347+40G= (n.86347+40G=)
n.447-19710C=
n.2043+9229C=
c.90367+40G= (n.90367+40G=)
c.64261+40G= (n.64261+40G=)
c.64120+40G= (n.64120+40G=)
c.90163+40G= (n.90163+40G=)
c.85561+40G= (n.85561+40G=)
c.85558+40G= (n.85558+40G=)
c.82600+40G= (n.82600+40G=)
c.64216+40G= (n.64216+40G=)
c.85711+40G= (n.85711+40G=)
c.85708+40G= (n.85708+40G=)
c.85141+40G= (n.85141+40G=)
c.82483+40G= (n.82483+40G=)
c.82402+40G= (n.82402+40G=)
c.64165+40G= (n.64165+40G=)
c.54019+40G= (n.54019+40G=)
2g.178551590C>TCA1310521103TTN,TTN-AS1c.83566+40G>A (n.83566+40G>A)
c.64651+40G>A (n.64651+40G>A)
c.64450+40G>A (n.64450+40G>A)
c.64075+40G>A (n.64075+40G>A)
c.91270+40G>A (n.91270+40G>A)
c.86347+40G>A (n.86347+40G>A)
n.447-19710C>T
n.2043+9229C>T
c.90367+40G>A (n.90367+40G>A)
c.64261+40G>A (n.64261+40G>A)
c.64120+40G>A (n.64120+40G>A)
c.90163+40G>A (n.90163+40G>A)
c.85561+40G>A (n.85561+40G>A)
c.85558+40G>A (n.85558+40G>A)
c.82600+40G>A (n.82600+40G>A)
c.64216+40G>A (n.64216+40G>A)
c.85711+40G>A (n.85711+40G>A)
c.85708+40G>A (n.85708+40G>A)
c.85141+40G>A (n.85141+40G>A)
c.82483+40G>A (n.82483+40G>A)
c.82402+40G>A (n.82402+40G>A)
c.64165+40G>A (n.64165+40G>A)
c.54019+40G>A (n.54019+40G>A)
 dbSNP
2g.178551591A=CA1310521104TTN,TTN-AS1c.83566+39T= (n.83566+39T=)
c.64651+39T= (n.64651+39T=)
c.64450+39T= (n.64450+39T=)
c.64075+39T= (n.64075+39T=)
c.91270+39T= (n.91270+39T=)
c.86347+39T= (n.86347+39T=)
n.447-19709A=
n.2043+9230A=
c.90367+39T= (n.90367+39T=)
c.64261+39T= (n.64261+39T=)
c.64120+39T= (n.64120+39T=)
c.90163+39T= (n.90163+39T=)
c.85561+39T= (n.85561+39T=)
c.85558+39T= (n.85558+39T=)
c.82600+39T= (n.82600+39T=)
c.64216+39T= (n.64216+39T=)
c.85711+39T= (n.85711+39T=)
c.85708+39T= (n.85708+39T=)
c.85141+39T= (n.85141+39T=)
c.82483+39T= (n.82483+39T=)
c.82402+39T= (n.82402+39T=)
c.64165+39T= (n.64165+39T=)
c.54019+39T= (n.54019+39T=)
2g.178551591A>GCA538091245TTN,TTN-AS1c.83566+39T>C (n.83566+39T>C)
c.64651+39T>C (n.64651+39T>C)
c.64450+39T>C (n.64450+39T>C)
c.64075+39T>C (n.64075+39T>C)
c.91270+39T>C (n.91270+39T>C)
c.86347+39T>C (n.86347+39T>C)
n.447-19709A>G
n.2043+9230A>G
c.90367+39T>C (n.90367+39T>C)
c.64261+39T>C (n.64261+39T>C)
c.64120+39T>C (n.64120+39T>C)
c.90163+39T>C (n.90163+39T>C)
c.85561+39T>C (n.85561+39T>C)
c.85558+39T>C (n.85558+39T>C)
c.82600+39T>C (n.82600+39T>C)
c.64216+39T>C (n.64216+39T>C)
c.85711+39T>C (n.85711+39T>C)
c.85708+39T>C (n.85708+39T>C)
c.85141+39T>C (n.85141+39T>C)
c.82483+39T>C (n.82483+39T>C)
c.82402+39T>C (n.82402+39T>C)
c.64165+39T>C (n.64165+39T>C)
c.54019+39T>C (n.54019+39T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178551592A=CA1310521106TTN,TTN-AS1c.83566+38T= (n.83566+38T=)
c.64651+38T= (n.64651+38T=)
c.64450+38T= (n.64450+38T=)
c.64075+38T= (n.64075+38T=)
c.91270+38T= (n.91270+38T=)
c.86347+38T= (n.86347+38T=)
n.447-19708A=
n.2043+9231A=
c.90367+38T= (n.90367+38T=)
c.64261+38T= (n.64261+38T=)
c.64120+38T= (n.64120+38T=)
c.90163+38T= (n.90163+38T=)
c.85561+38T= (n.85561+38T=)
c.85558+38T= (n.85558+38T=)
c.82600+38T= (n.82600+38T=)
c.64216+38T= (n.64216+38T=)
c.85711+38T= (n.85711+38T=)
c.85708+38T= (n.85708+38T=)
c.85141+38T= (n.85141+38T=)
c.82483+38T= (n.82483+38T=)
c.82402+38T= (n.82402+38T=)
c.64165+38T= (n.64165+38T=)
c.54019+38T= (n.54019+38T=)
2g.178551592A>GCA1987661TTN,TTN-AS1c.83566+38T>C (n.83566+38T>C)
c.64651+38T>C (n.64651+38T>C)
c.64450+38T>C (n.64450+38T>C)
c.64075+38T>C (n.64075+38T>C)
c.91270+38T>C (n.91270+38T>C)
c.86347+38T>C (n.86347+38T>C)
n.447-19708A>G
n.2043+9231A>G
c.90367+38T>C (n.90367+38T>C)
c.64261+38T>C (n.64261+38T>C)
c.64120+38T>C (n.64120+38T>C)
c.90163+38T>C (n.90163+38T>C)
c.85561+38T>C (n.85561+38T>C)
c.85558+38T>C (n.85558+38T>C)
c.82600+38T>C (n.82600+38T>C)
c.64216+38T>C (n.64216+38T>C)
c.85711+38T>C (n.85711+38T>C)
c.85708+38T>C (n.85708+38T>C)
c.85141+38T>C (n.85141+38T>C)
c.82483+38T>C (n.82483+38T>C)
c.82402+38T>C (n.82402+38T>C)
c.64165+38T>C (n.64165+38T>C)
c.54019+38T>C (n.54019+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178551593T>CCA1987662TTN,TTN-AS1c.83566+37A>G (n.83566+37A>G)
c.64651+37A>G (n.64651+37A>G)
c.64450+37A>G (n.64450+37A>G)
c.64075+37A>G (n.64075+37A>G)
c.91270+37A>G (n.91270+37A>G)
c.86347+37A>G (n.86347+37A>G)
n.447-19707T>C
n.2043+9232T>C
c.90367+37A>G (n.90367+37A>G)
c.64261+37A>G (n.64261+37A>G)
c.64120+37A>G (n.64120+37A>G)
c.90163+37A>G (n.90163+37A>G)
c.85561+37A>G (n.85561+37A>G)
c.85558+37A>G (n.85558+37A>G)
c.82600+37A>G (n.82600+37A>G)
c.64216+37A>G (n.64216+37A>G)
c.85711+37A>G (n.85711+37A>G)
c.85708+37A>G (n.85708+37A>G)
c.85141+37A>G (n.85141+37A>G)
c.82483+37A>G (n.82483+37A>G)
c.82402+37A>G (n.82402+37A>G)
c.64165+37A>G (n.64165+37A>G)
c.54019+37A>G (n.54019+37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551593T=CA1310521108TTN,TTN-AS1c.83566+37A= (n.83566+37A=)
c.64651+37A= (n.64651+37A=)
c.64450+37A= (n.64450+37A=)
c.64075+37A= (n.64075+37A=)
c.91270+37A= (n.91270+37A=)
c.86347+37A= (n.86347+37A=)
n.447-19707T=
n.2043+9232T=
c.90367+37A= (n.90367+37A=)
c.64261+37A= (n.64261+37A=)
c.64120+37A= (n.64120+37A=)
c.90163+37A= (n.90163+37A=)
c.85561+37A= (n.85561+37A=)
c.85558+37A= (n.85558+37A=)
c.82600+37A= (n.82600+37A=)
c.64216+37A= (n.64216+37A=)
c.85711+37A= (n.85711+37A=)
c.85708+37A= (n.85708+37A=)
c.85141+37A= (n.85141+37A=)
c.82483+37A= (n.82483+37A=)
c.82402+37A= (n.82402+37A=)
c.64165+37A= (n.64165+37A=)
c.54019+37A= (n.54019+37A=)
2g.178551595G>ACA538091246TTN,TTN-AS1c.83566+35C>T (n.83566+35C>T)
c.64651+35C>T (n.64651+35C>T)
c.64450+35C>T (n.64450+35C>T)
c.64075+35C>T (n.64075+35C>T)
c.91270+35C>T (n.91270+35C>T)
c.86347+35C>T (n.86347+35C>T)
n.447-19705G>A
n.2043+9234G>A
c.90367+35C>T (n.90367+35C>T)
c.64261+35C>T (n.64261+35C>T)
c.64120+35C>T (n.64120+35C>T)
c.90163+35C>T (n.90163+35C>T)
c.85561+35C>T (n.85561+35C>T)
c.85558+35C>T (n.85558+35C>T)
c.82600+35C>T (n.82600+35C>T)
c.64216+35C>T (n.64216+35C>T)
c.85711+35C>T (n.85711+35C>T)
c.85708+35C>T (n.85708+35C>T)
c.85141+35C>T (n.85141+35C>T)
c.82483+35C>T (n.82483+35C>T)
c.82402+35C>T (n.82402+35C>T)
c.64165+35C>T (n.64165+35C>T)
c.54019+35C>T (n.54019+35C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178551595G=CA1310521110TTN,TTN-AS1c.83566+35C= (n.83566+35C=)
c.64651+35C= (n.64651+35C=)
c.64450+35C= (n.64450+35C=)
c.64075+35C= (n.64075+35C=)
c.91270+35C= (n.91270+35C=)
c.86347+35C= (n.86347+35C=)
n.447-19705G=
n.2043+9234G=
c.90367+35C= (n.90367+35C=)
c.64261+35C= (n.64261+35C=)
c.64120+35C= (n.64120+35C=)
c.90163+35C= (n.90163+35C=)
c.85561+35C= (n.85561+35C=)
c.85558+35C= (n.85558+35C=)
c.82600+35C= (n.82600+35C=)
c.64216+35C= (n.64216+35C=)
c.85711+35C= (n.85711+35C=)
c.85708+35C= (n.85708+35C=)
c.85141+35C= (n.85141+35C=)
c.82483+35C= (n.82483+35C=)
c.82402+35C= (n.82402+35C=)
c.64165+35C= (n.64165+35C=)
c.54019+35C= (n.54019+35C=)
2g.178551595G>TCA2662127089TTN,TTN-AS1c.83566+35C>A (n.83566+35C>A)
c.64651+35C>A (n.64651+35C>A)
c.64450+35C>A (n.64450+35C>A)
c.64075+35C>A (n.64075+35C>A)
c.91270+35C>A (n.91270+35C>A)
c.86347+35C>A (n.86347+35C>A)
n.447-19705G>T
n.2043+9234G>T
c.90367+35C>A (n.90367+35C>A)
c.64261+35C>A (n.64261+35C>A)
c.64120+35C>A (n.64120+35C>A)
c.90163+35C>A (n.90163+35C>A)
c.85561+35C>A (n.85561+35C>A)
c.85558+35C>A (n.85558+35C>A)
c.82600+35C>A (n.82600+35C>A)
c.64216+35C>A (n.64216+35C>A)
c.85711+35C>A (n.85711+35C>A)
c.85708+35C>A (n.85708+35C>A)
c.85141+35C>A (n.85141+35C>A)
c.82483+35C>A (n.82483+35C>A)
c.82402+35C>A (n.82402+35C>A)
c.64165+35C>A (n.64165+35C>A)
c.54019+35C>A (n.54019+35C>A)
 gnomAD v4
2g.178551598A>GCA2577170418TTN,TTN-AS1c.83566+32T>C (n.83566+32T>C)
c.64651+32T>C (n.64651+32T>C)
c.64450+32T>C (n.64450+32T>C)
c.64075+32T>C (n.64075+32T>C)
c.91270+32T>C (n.91270+32T>C)
c.86347+32T>C (n.86347+32T>C)
n.447-19702A>G
n.2043+9237A>G
c.90367+32T>C (n.90367+32T>C)
c.64261+32T>C (n.64261+32T>C)
c.64120+32T>C (n.64120+32T>C)
c.90163+32T>C (n.90163+32T>C)
c.85561+32T>C (n.85561+32T>C)
c.85558+32T>C (n.85558+32T>C)
c.82600+32T>C (n.82600+32T>C)
c.64216+32T>C (n.64216+32T>C)
c.85711+32T>C (n.85711+32T>C)
c.85708+32T>C (n.85708+32T>C)
c.85141+32T>C (n.85141+32T>C)
c.82483+32T>C (n.82483+32T>C)
c.82402+32T>C (n.82402+32T>C)
c.64165+32T>C (n.64165+32T>C)
c.54019+32T>C (n.54019+32T>C)
 gnomAD v4
2g.178551599A=CA1310521111TTN,TTN-AS1c.83566+31T= (n.83566+31T=)
c.64651+31T= (n.64651+31T=)
c.64450+31T= (n.64450+31T=)
c.64075+31T= (n.64075+31T=)
c.91270+31T= (n.91270+31T=)
c.86347+31T= (n.86347+31T=)
n.447-19701A=
n.2043+9238A=
c.90367+31T= (n.90367+31T=)
c.64261+31T= (n.64261+31T=)
c.64120+31T= (n.64120+31T=)
c.90163+31T= (n.90163+31T=)
c.85561+31T= (n.85561+31T=)
c.85558+31T= (n.85558+31T=)
c.82600+31T= (n.82600+31T=)
c.64216+31T= (n.64216+31T=)
c.85711+31T= (n.85711+31T=)
c.85708+31T= (n.85708+31T=)
c.85141+31T= (n.85141+31T=)
c.82483+31T= (n.82483+31T=)
c.82402+31T= (n.82402+31T=)
c.64165+31T= (n.64165+31T=)
c.54019+31T= (n.54019+31T=)
2g.178551599A>CCA1987663TTN,TTN-AS1c.83566+31T>G (n.83566+31T>G)
c.64651+31T>G (n.64651+31T>G)
c.64450+31T>G (n.64450+31T>G)
c.64075+31T>G (n.64075+31T>G)
c.91270+31T>G (n.91270+31T>G)
c.86347+31T>G (n.86347+31T>G)
n.447-19701A>C
n.2043+9238A>C
c.90367+31T>G (n.90367+31T>G)
c.64261+31T>G (n.64261+31T>G)
c.64120+31T>G (n.64120+31T>G)
c.90163+31T>G (n.90163+31T>G)
c.85561+31T>G (n.85561+31T>G)
c.85558+31T>G (n.85558+31T>G)
c.82600+31T>G (n.82600+31T>G)
c.64216+31T>G (n.64216+31T>G)
c.85711+31T>G (n.85711+31T>G)
c.85708+31T>G (n.85708+31T>G)
c.85141+31T>G (n.85141+31T>G)
c.82483+31T>G (n.82483+31T>G)
c.82402+31T>G (n.82402+31T>G)
c.64165+31T>G (n.64165+31T>G)
c.54019+31T>G (n.54019+31T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178551607G>ACA2577170419TTN,TTN-AS1c.83566+23C>T (n.83566+23C>T)
c.64651+23C>T (n.64651+23C>T)
c.64450+23C>T (n.64450+23C>T)
c.64075+23C>T (n.64075+23C>T)
c.91270+23C>T (n.91270+23C>T)
c.86347+23C>T (n.86347+23C>T)
n.447-19693G>A
n.2043+9246G>A
c.90367+23C>T (n.90367+23C>T)
c.64261+23C>T (n.64261+23C>T)
c.64120+23C>T (n.64120+23C>T)
c.90163+23C>T (n.90163+23C>T)
c.85561+23C>T (n.85561+23C>T)
c.85558+23C>T (n.85558+23C>T)
c.82600+23C>T (n.82600+23C>T)
c.64216+23C>T (n.64216+23C>T)
c.85711+23C>T (n.85711+23C>T)
c.85708+23C>T (n.85708+23C>T)
c.85141+23C>T (n.85141+23C>T)
c.82483+23C>T (n.82483+23C>T)
c.82402+23C>T (n.82402+23C>T)
c.64165+23C>T (n.64165+23C>T)
c.54019+23C>T (n.54019+23C>T)
 gnomAD v4
2g.178551607G>CCA60977056TTN,TTN-AS1c.83566+23C>G (n.83566+23C>G)
c.64651+23C>G (n.64651+23C>G)
c.64450+23C>G (n.64450+23C>G)
c.64075+23C>G (n.64075+23C>G)
c.91270+23C>G (n.91270+23C>G)
c.86347+23C>G (n.86347+23C>G)
n.447-19693G>C
n.2043+9246G>C
c.90367+23C>G (n.90367+23C>G)
c.64261+23C>G (n.64261+23C>G)
c.64120+23C>G (n.64120+23C>G)
c.90163+23C>G (n.90163+23C>G)
c.85561+23C>G (n.85561+23C>G)
c.85558+23C>G (n.85558+23C>G)
c.82600+23C>G (n.82600+23C>G)
c.64216+23C>G (n.64216+23C>G)
c.85711+23C>G (n.85711+23C>G)
c.85708+23C>G (n.85708+23C>G)
c.85141+23C>G (n.85141+23C>G)
c.82483+23C>G (n.82483+23C>G)
c.82402+23C>G (n.82402+23C>G)
c.64165+23C>G (n.64165+23C>G)
c.54019+23C>G (n.54019+23C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.178551607G=CA1310521112TTN,TTN-AS1c.83566+23C= (n.83566+23C=)
c.64651+23C= (n.64651+23C=)
c.64450+23C= (n.64450+23C=)
c.64075+23C= (n.64075+23C=)
c.91270+23C= (n.91270+23C=)
c.86347+23C= (n.86347+23C=)
n.447-19693G=
n.2043+9246G=
c.90367+23C= (n.90367+23C=)
c.64261+23C= (n.64261+23C=)
c.64120+23C= (n.64120+23C=)
c.90163+23C= (n.90163+23C=)
c.85561+23C= (n.85561+23C=)
c.85558+23C= (n.85558+23C=)
c.82600+23C= (n.82600+23C=)
c.64216+23C= (n.64216+23C=)
c.85711+23C= (n.85711+23C=)
c.85708+23C= (n.85708+23C=)
c.85141+23C= (n.85141+23C=)
c.82483+23C= (n.82483+23C=)
c.82402+23C= (n.82402+23C=)
c.64165+23C= (n.64165+23C=)
c.54019+23C= (n.54019+23C=)
2g.178551613G>CCA2662127111TTN,TTN-AS1c.83566+17C>G (n.83566+17C>G)
c.64651+17C>G (n.64651+17C>G)
c.64450+17C>G (n.64450+17C>G)
c.64075+17C>G (n.64075+17C>G)
c.91270+17C>G (n.91270+17C>G)
c.86347+17C>G (n.86347+17C>G)
n.447-19687G>C
n.2043+9252G>C
c.90367+17C>G (n.90367+17C>G)
c.64261+17C>G (n.64261+17C>G)
c.64120+17C>G (n.64120+17C>G)
c.90163+17C>G (n.90163+17C>G)
c.85561+17C>G (n.85561+17C>G)
c.85558+17C>G (n.85558+17C>G)
c.82600+17C>G (n.82600+17C>G)
c.64216+17C>G (n.64216+17C>G)
c.85711+17C>G (n.85711+17C>G)
c.85708+17C>G (n.85708+17C>G)
c.85141+17C>G (n.85141+17C>G)
c.82483+17C>G (n.82483+17C>G)
c.82402+17C>G (n.82402+17C>G)
c.64165+17C>G (n.64165+17C>G)
c.54019+17C>G (n.54019+17C>G)
 gnomAD v4
2g.178551613G>TCA2662127113TTN,TTN-AS1c.83566+17C>A (n.83566+17C>A)
c.64651+17C>A (n.64651+17C>A)
c.64450+17C>A (n.64450+17C>A)
c.64075+17C>A (n.64075+17C>A)
c.91270+17C>A (n.91270+17C>A)
c.86347+17C>A (n.86347+17C>A)
n.447-19687G>T
n.2043+9252G>T
c.90367+17C>A (n.90367+17C>A)
c.64261+17C>A (n.64261+17C>A)
c.64120+17C>A (n.64120+17C>A)
c.90163+17C>A (n.90163+17C>A)
c.85561+17C>A (n.85561+17C>A)
c.85558+17C>A (n.85558+17C>A)
c.82600+17C>A (n.82600+17C>A)
c.64216+17C>A (n.64216+17C>A)
c.85711+17C>A (n.85711+17C>A)
c.85708+17C>A (n.85708+17C>A)
c.85141+17C>A (n.85141+17C>A)
c.82483+17C>A (n.82483+17C>A)
c.82402+17C>A (n.82402+17C>A)
c.64165+17C>A (n.64165+17C>A)
c.54019+17C>A (n.54019+17C>A)
 gnomAD v4
2g.178551615A=CA1310521113TTN,TTN-AS1c.83566+15T= (n.83566+15T=)
c.64651+15T= (n.64651+15T=)
c.64450+15T= (n.64450+15T=)
c.64075+15T= (n.64075+15T=)
c.91270+15T= (n.91270+15T=)
c.86347+15T= (n.86347+15T=)
n.447-19685A=
n.2043+9254A=
c.90367+15T= (n.90367+15T=)
c.64261+15T= (n.64261+15T=)
c.64120+15T= (n.64120+15T=)
c.90163+15T= (n.90163+15T=)
c.85561+15T= (n.85561+15T=)
c.85558+15T= (n.85558+15T=)
c.82600+15T= (n.82600+15T=)
c.64216+15T= (n.64216+15T=)
c.85711+15T= (n.85711+15T=)
c.85708+15T= (n.85708+15T=)
c.85141+15T= (n.85141+15T=)
c.82483+15T= (n.82483+15T=)
c.82402+15T= (n.82402+15T=)
c.64165+15T= (n.64165+15T=)
c.54019+15T= (n.54019+15T=)
2g.178551615A>GCA1987664TTN,TTN-AS1c.83566+15T>C (n.83566+15T>C)
c.64651+15T>C (n.64651+15T>C)
c.64450+15T>C (n.64450+15T>C)
c.64075+15T>C (n.64075+15T>C)
c.91270+15T>C (n.91270+15T>C)
c.86347+15T>C (n.86347+15T>C)
n.447-19685A>G
n.2043+9254A>G
c.90367+15T>C (n.90367+15T>C)
c.64261+15T>C (n.64261+15T>C)
c.64120+15T>C (n.64120+15T>C)
c.90163+15T>C (n.90163+15T>C)
c.85561+15T>C (n.85561+15T>C)
c.85558+15T>C (n.85558+15T>C)
c.82600+15T>C (n.82600+15T>C)
c.64216+15T>C (n.64216+15T>C)
c.85711+15T>C (n.85711+15T>C)
c.85708+15T>C (n.85708+15T>C)
c.85141+15T>C (n.85141+15T>C)
c.82483+15T>C (n.82483+15T>C)
c.82402+15T>C (n.82402+15T>C)
c.64165+15T>C (n.64165+15T>C)
c.54019+15T>C (n.54019+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551617A>CCA2577170420TTN,TTN-AS1c.83566+13T>G (n.83566+13T>G)
c.64651+13T>G (n.64651+13T>G)
c.64450+13T>G (n.64450+13T>G)
c.64075+13T>G (n.64075+13T>G)
c.91270+13T>G (n.91270+13T>G)
c.86347+13T>G (n.86347+13T>G)
n.447-19683A>C
n.2043+9256A>C
c.90367+13T>G (n.90367+13T>G)
c.64261+13T>G (n.64261+13T>G)
c.64120+13T>G (n.64120+13T>G)
c.90163+13T>G (n.90163+13T>G)
c.85561+13T>G (n.85561+13T>G)
c.85558+13T>G (n.85558+13T>G)
c.82600+13T>G (n.82600+13T>G)
c.64216+13T>G (n.64216+13T>G)
c.85711+13T>G (n.85711+13T>G)
c.85708+13T>G (n.85708+13T>G)
c.85141+13T>G (n.85141+13T>G)
c.82483+13T>G (n.82483+13T>G)
c.82402+13T>G (n.82402+13T>G)
c.64165+13T>G (n.64165+13T>G)
c.54019+13T>G (n.54019+13T>G)
 ClinVar
2g.178551619T>CCA2662127117TTN,TTN-AS1c.83566+11A>G (n.83566+11A>G)
c.64651+11A>G (n.64651+11A>G)
c.64450+11A>G (n.64450+11A>G)
c.64075+11A>G (n.64075+11A>G)
c.91270+11A>G (n.91270+11A>G)
c.86347+11A>G (n.86347+11A>G)
n.447-19681T>C
n.2043+9258T>C
c.90367+11A>G (n.90367+11A>G)
c.64261+11A>G (n.64261+11A>G)
c.64120+11A>G (n.64120+11A>G)
c.90163+11A>G (n.90163+11A>G)
c.85561+11A>G (n.85561+11A>G)
c.85558+11A>G (n.85558+11A>G)
c.82600+11A>G (n.82600+11A>G)
c.64216+11A>G (n.64216+11A>G)
c.85711+11A>G (n.85711+11A>G)
c.85708+11A>G (n.85708+11A>G)
c.85141+11A>G (n.85141+11A>G)
c.82483+11A>G (n.82483+11A>G)
c.82402+11A>G (n.82402+11A>G)
c.64165+11A>G (n.64165+11A>G)
c.54019+11A>G (n.54019+11A>G)
 gnomAD v4
2g.178551621A=CA1310521114TTN,TTN-AS1c.83566+9T= (n.83566+9T=)
c.64651+9T= (n.64651+9T=)
c.64450+9T= (n.64450+9T=)
c.64075+9T= (n.64075+9T=)
c.91270+9T= (n.91270+9T=)
c.86347+9T= (n.86347+9T=)
n.447-19679A=
n.2043+9260A=
c.90367+9T= (n.90367+9T=)
c.64261+9T= (n.64261+9T=)
c.64120+9T= (n.64120+9T=)
c.90163+9T= (n.90163+9T=)
c.85561+9T= (n.85561+9T=)
c.85558+9T= (n.85558+9T=)
c.82600+9T= (n.82600+9T=)
c.64216+9T= (n.64216+9T=)
c.85711+9T= (n.85711+9T=)
c.85708+9T= (n.85708+9T=)
c.85141+9T= (n.85141+9T=)
c.82483+9T= (n.82483+9T=)
c.82402+9T= (n.82402+9T=)
c.64165+9T= (n.64165+9T=)
c.54019+9T= (n.54019+9T=)
2g.178551621A>CCA1310521115TTN,TTN-AS1c.83566+9T>G (n.83566+9T>G)
c.64651+9T>G (n.64651+9T>G)
c.64450+9T>G (n.64450+9T>G)
c.64075+9T>G (n.64075+9T>G)
c.91270+9T>G (n.91270+9T>G)
c.86347+9T>G (n.86347+9T>G)
n.447-19679A>C
n.2043+9260A>C
c.90367+9T>G (n.90367+9T>G)
c.64261+9T>G (n.64261+9T>G)
c.64120+9T>G (n.64120+9T>G)
c.90163+9T>G (n.90163+9T>G)
c.85561+9T>G (n.85561+9T>G)
c.85558+9T>G (n.85558+9T>G)
c.82600+9T>G (n.82600+9T>G)
c.64216+9T>G (n.64216+9T>G)
c.85711+9T>G (n.85711+9T>G)
c.85708+9T>G (n.85708+9T>G)
c.85141+9T>G (n.85141+9T>G)
c.82483+9T>G (n.82483+9T>G)
c.82402+9T>G (n.82402+9T>G)
c.64165+9T>G (n.64165+9T>G)
c.54019+9T>G (n.54019+9T>G)
 dbSNP
2g.178551621A>GCA2580064766TTN,TTN-AS1c.83566+9T>C (n.83566+9T>C)
c.64651+9T>C (n.64651+9T>C)
c.64450+9T>C (n.64450+9T>C)
c.64075+9T>C (n.64075+9T>C)
c.91270+9T>C (n.91270+9T>C)
c.86347+9T>C (n.86347+9T>C)
n.447-19679A>G
n.2043+9260A>G
c.90367+9T>C (n.90367+9T>C)
c.64261+9T>C (n.64261+9T>C)
c.64120+9T>C (n.64120+9T>C)
c.90163+9T>C (n.90163+9T>C)
c.85561+9T>C (n.85561+9T>C)
c.85558+9T>C (n.85558+9T>C)
c.82600+9T>C (n.82600+9T>C)
c.64216+9T>C (n.64216+9T>C)
c.85711+9T>C (n.85711+9T>C)
c.85708+9T>C (n.85708+9T>C)
c.85141+9T>C (n.85141+9T>C)
c.82483+9T>C (n.82483+9T>C)
c.82402+9T>C (n.82402+9T>C)
c.64165+9T>C (n.64165+9T>C)
c.54019+9T>C (n.54019+9T>C)
 ClinVar gnomAD v4
2g.178551622T>ACA2662127127TTN,TTN-AS1c.83566+8A>T (n.83566+8A>T)
c.64651+8A>T (n.64651+8A>T)
c.64450+8A>T (n.64450+8A>T)
c.64075+8A>T (n.64075+8A>T)
c.91270+8A>T (n.91270+8A>T)
c.86347+8A>T (n.86347+8A>T)
n.447-19678T>A
n.2043+9261T>A
c.90367+8A>T (n.90367+8A>T)
c.64261+8A>T (n.64261+8A>T)
c.64120+8A>T (n.64120+8A>T)
c.90163+8A>T (n.90163+8A>T)
c.85561+8A>T (n.85561+8A>T)
c.85558+8A>T (n.85558+8A>T)
c.82600+8A>T (n.82600+8A>T)
c.64216+8A>T (n.64216+8A>T)
c.85711+8A>T (n.85711+8A>T)
c.85708+8A>T (n.85708+8A>T)
c.85141+8A>T (n.85141+8A>T)
c.82483+8A>T (n.82483+8A>T)
c.82402+8A>T (n.82402+8A>T)
c.64165+8A>T (n.64165+8A>T)
c.54019+8A>T (n.54019+8A>T)
 ClinVar gnomAD v4
2g.178551622T>CCA2753331234TTN,TTN-AS1c.83566+8A>G (n.83566+8A>G)
c.64651+8A>G (n.64651+8A>G)
c.64450+8A>G (n.64450+8A>G)
c.64075+8A>G (n.64075+8A>G)
c.91270+8A>G (n.91270+8A>G)
c.86347+8A>G (n.86347+8A>G)
n.447-19678T>C
n.2043+9261T>C
c.90367+8A>G (n.90367+8A>G)
c.64261+8A>G (n.64261+8A>G)
c.64120+8A>G (n.64120+8A>G)
c.90163+8A>G (n.90163+8A>G)
c.85561+8A>G (n.85561+8A>G)
c.85558+8A>G (n.85558+8A>G)
c.82600+8A>G (n.82600+8A>G)
c.64216+8A>G (n.64216+8A>G)
c.85711+8A>G (n.85711+8A>G)
c.85708+8A>G (n.85708+8A>G)
c.85141+8A>G (n.85141+8A>G)
c.82483+8A>G (n.82483+8A>G)
c.82402+8A>G (n.82402+8A>G)
c.64165+8A>G (n.64165+8A>G)
c.54019+8A>G (n.54019+8A>G)
2g.178551623C>ACA2570838913TTN,TTN-AS1c.83566+7G>T (n.83566+7G>T)
c.64651+7G>T (n.64651+7G>T)
c.64450+7G>T (n.64450+7G>T)
c.64075+7G>T (n.64075+7G>T)
c.91270+7G>T (n.91270+7G>T)
c.86347+7G>T (n.86347+7G>T)
n.447-19677C>A
n.2043+9262C>A
c.90367+7G>T (n.90367+7G>T)
c.64261+7G>T (n.64261+7G>T)
c.64120+7G>T (n.64120+7G>T)
c.90163+7G>T (n.90163+7G>T)
c.85561+7G>T (n.85561+7G>T)
c.85558+7G>T (n.85558+7G>T)
c.82600+7G>T (n.82600+7G>T)
c.64216+7G>T (n.64216+7G>T)
c.85711+7G>T (n.85711+7G>T)
c.85708+7G>T (n.85708+7G>T)
c.85141+7G>T (n.85141+7G>T)
c.82483+7G>T (n.82483+7G>T)
c.82402+7G>T (n.82402+7G>T)
c.64165+7G>T (n.64165+7G>T)
c.54019+7G>T (n.54019+7G>T)
 ClinVar
2g.178551624A=CA1310521116TTN,TTN-AS1c.83566+6T= (n.83566+6T=)
c.64651+6T= (n.64651+6T=)
c.64450+6T= (n.64450+6T=)
c.64075+6T= (n.64075+6T=)
c.91270+6T= (n.91270+6T=)
c.86347+6T= (n.86347+6T=)
n.447-19676A=
n.2043+9263A=
c.90367+6T= (n.90367+6T=)
c.64261+6T= (n.64261+6T=)
c.64120+6T= (n.64120+6T=)
c.90163+6T= (n.90163+6T=)
c.85561+6T= (n.85561+6T=)
c.85558+6T= (n.85558+6T=)
c.82600+6T= (n.82600+6T=)
c.64216+6T= (n.64216+6T=)
c.85711+6T= (n.85711+6T=)
c.85708+6T= (n.85708+6T=)
c.85141+6T= (n.85141+6T=)
c.82483+6T= (n.82483+6T=)
c.82402+6T= (n.82402+6T=)
c.64165+6T= (n.64165+6T=)
c.54019+6T= (n.54019+6T=)
2g.178551624A>GCA761285727TTN,TTN-AS1c.83566+6T>C (n.83566+6T>C)
c.64651+6T>C (n.64651+6T>C)
c.64450+6T>C (n.64450+6T>C)
c.64075+6T>C (n.64075+6T>C)
c.91270+6T>C (n.91270+6T>C)
c.86347+6T>C (n.86347+6T>C)
n.447-19676A>G
n.2043+9263A>G
c.90367+6T>C (n.90367+6T>C)
c.64261+6T>C (n.64261+6T>C)
c.64120+6T>C (n.64120+6T>C)
c.90163+6T>C (n.90163+6T>C)
c.85561+6T>C (n.85561+6T>C)
c.85558+6T>C (n.85558+6T>C)
c.82600+6T>C (n.82600+6T>C)
c.64216+6T>C (n.64216+6T>C)
c.85711+6T>C (n.85711+6T>C)
c.85708+6T>C (n.85708+6T>C)
c.85141+6T>C (n.85141+6T>C)
c.82483+6T>C (n.82483+6T>C)
c.82402+6T>C (n.82402+6T>C)
c.64165+6T>C (n.64165+6T>C)
c.54019+6T>C (n.54019+6T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178551625C>TCA2499215316TTN,TTN-AS1c.83566+5G>A (n.83566+5G>A)
c.64651+5G>A (n.64651+5G>A)
c.64450+5G>A (n.64450+5G>A)
c.64075+5G>A (n.64075+5G>A)
c.91270+5G>A (n.91270+5G>A)
c.86347+5G>A (n.86347+5G>A)
n.447-19675C>T
n.2043+9264C>T
c.90367+5G>A (n.90367+5G>A)
c.64261+5G>A (n.64261+5G>A)
c.64120+5G>A (n.64120+5G>A)
c.90163+5G>A (n.90163+5G>A)
c.85561+5G>A (n.85561+5G>A)
c.85558+5G>A (n.85558+5G>A)
c.82600+5G>A (n.82600+5G>A)
c.64216+5G>A (n.64216+5G>A)
c.85711+5G>A (n.85711+5G>A)
c.85708+5G>A (n.85708+5G>A)
c.85141+5G>A (n.85141+5G>A)
c.82483+5G>A (n.82483+5G>A)
c.82402+5G>A (n.82402+5G>A)
c.64165+5G>A (n.64165+5G>A)
c.54019+5G>A (n.54019+5G>A)
 ClinVar dbSNP
2g.178551626T>CCA1139657386TTN,TTN-AS1c.83566+4A>G (n.83566+4A>G)
c.64651+4A>G (n.64651+4A>G)
c.64450+4A>G (n.64450+4A>G)
c.64075+4A>G (n.64075+4A>G)
c.91270+4A>G (n.91270+4A>G)
c.86347+4A>G (n.86347+4A>G)
n.447-19674T>C
n.2043+9265T>C
c.90367+4A>G (n.90367+4A>G)
c.64261+4A>G (n.64261+4A>G)
c.64120+4A>G (n.64120+4A>G)
c.90163+4A>G (n.90163+4A>G)
c.85561+4A>G (n.85561+4A>G)
c.85558+4A>G (n.85558+4A>G)
c.82600+4A>G (n.82600+4A>G)
c.64216+4A>G (n.64216+4A>G)
c.85711+4A>G (n.85711+4A>G)
c.85708+4A>G (n.85708+4A>G)
c.85141+4A>G (n.85141+4A>G)
c.82483+4A>G (n.82483+4A>G)
c.82402+4A>G (n.82402+4A>G)
c.64165+4A>G (n.64165+4A>G)
c.54019+4A>G (n.54019+4A>G)
 ClinVar dbSNP
2g.178551626T=CA1310521118TTN,TTN-AS1c.83566+4A= (n.83566+4A=)
c.64651+4A= (n.64651+4A=)
c.64450+4A= (n.64450+4A=)
c.64075+4A= (n.64075+4A=)
c.91270+4A= (n.91270+4A=)
c.86347+4A= (n.86347+4A=)
n.447-19674T=
n.2043+9265T=
c.90367+4A= (n.90367+4A=)
c.64261+4A= (n.64261+4A=)
c.64120+4A= (n.64120+4A=)
c.90163+4A= (n.90163+4A=)
c.85561+4A= (n.85561+4A=)
c.85558+4A= (n.85558+4A=)
c.82600+4A= (n.82600+4A=)
c.64216+4A= (n.64216+4A=)
c.85711+4A= (n.85711+4A=)
c.85708+4A= (n.85708+4A=)
c.85141+4A= (n.85141+4A=)
c.82483+4A= (n.82483+4A=)
c.82402+4A= (n.82402+4A=)
c.64165+4A= (n.64165+4A=)
c.54019+4A= (n.54019+4A=)
2g.178551628A=CA1310521120TTN,TTN-AS1c.83566+2T= (n.83566+2T=)
c.64651+2T= (n.64651+2T=)
c.64450+2T= (n.64450+2T=)
c.64075+2T= (n.64075+2T=)
c.91270+2T= (n.91270+2T=)
c.86347+2T= (n.86347+2T=)
n.447-19672A=
n.2043+9267A=
c.90367+2T= (n.90367+2T=)
c.64261+2T= (n.64261+2T=)
c.64120+2T= (n.64120+2T=)
c.90163+2T= (n.90163+2T=)
c.85561+2T= (n.85561+2T=)
c.85558+2T= (n.85558+2T=)
c.82600+2T= (n.82600+2T=)
c.64216+2T= (n.64216+2T=)
c.85711+2T= (n.85711+2T=)
c.85708+2T= (n.85708+2T=)
c.85141+2T= (n.85141+2T=)
c.82483+2T= (n.82483+2T=)
c.82402+2T= (n.82402+2T=)
c.64165+2T= (n.64165+2T=)
c.54019+2T= (n.54019+2T=)
2g.178551628A>CCA349502516TTN,TTN-AS1c.83566+2T>G (n.83566+2T>G)
c.64651+2T>G (n.64651+2T>G)
c.64450+2T>G (n.64450+2T>G)
c.64075+2T>G (n.64075+2T>G)
c.91270+2T>G (n.91270+2T>G)
c.86347+2T>G (n.86347+2T>G)
n.447-19672A>C
n.2043+9267A>C
c.90367+2T>G (n.90367+2T>G)
c.64261+2T>G (n.64261+2T>G)
c.64120+2T>G (n.64120+2T>G)
c.90163+2T>G (n.90163+2T>G)
c.85561+2T>G (n.85561+2T>G)
c.85558+2T>G (n.85558+2T>G)
c.82600+2T>G (n.82600+2T>G)
c.64216+2T>G (n.64216+2T>G)
c.85711+2T>G (n.85711+2T>G)
c.85708+2T>G (n.85708+2T>G)
c.85141+2T>G (n.85141+2T>G)
c.82483+2T>G (n.82483+2T>G)
c.82402+2T>G (n.82402+2T>G)
c.64165+2T>G (n.64165+2T>G)
c.54019+2T>G (n.54019+2T>G)
2g.178551628A>GCA349502520TTN,TTN-AS1c.83566+2T>C (n.83566+2T>C)
c.64651+2T>C (n.64651+2T>C)
c.64450+2T>C (n.64450+2T>C)
c.64075+2T>C (n.64075+2T>C)
c.91270+2T>C (n.91270+2T>C)
c.86347+2T>C (n.86347+2T>C)
n.447-19672A>G
n.2043+9267A>G
c.90367+2T>C (n.90367+2T>C)
c.64261+2T>C (n.64261+2T>C)
c.64120+2T>C (n.64120+2T>C)
c.90163+2T>C (n.90163+2T>C)
c.85561+2T>C (n.85561+2T>C)
c.85558+2T>C (n.85558+2T>C)
c.82600+2T>C (n.82600+2T>C)
c.64216+2T>C (n.64216+2T>C)
c.85711+2T>C (n.85711+2T>C)
c.85708+2T>C (n.85708+2T>C)
c.85141+2T>C (n.85141+2T>C)
c.82483+2T>C (n.82483+2T>C)
c.82402+2T>C (n.82402+2T>C)
c.64165+2T>C (n.64165+2T>C)
c.54019+2T>C (n.54019+2T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178551628A>TCA349502522TTN,TTN-AS1c.83566+2T>A (n.83566+2T>A)
c.64651+2T>A (n.64651+2T>A)
c.64450+2T>A (n.64450+2T>A)
c.64075+2T>A (n.64075+2T>A)
c.91270+2T>A (n.91270+2T>A)
c.86347+2T>A (n.86347+2T>A)
n.447-19672A>T
n.2043+9267A>T
c.90367+2T>A (n.90367+2T>A)
c.64261+2T>A (n.64261+2T>A)
c.64120+2T>A (n.64120+2T>A)
c.90163+2T>A (n.90163+2T>A)
c.85561+2T>A (n.85561+2T>A)
c.85558+2T>A (n.85558+2T>A)
c.82600+2T>A (n.82600+2T>A)
c.64216+2T>A (n.64216+2T>A)
c.85711+2T>A (n.85711+2T>A)
c.85708+2T>A (n.85708+2T>A)
c.85141+2T>A (n.85141+2T>A)
c.82483+2T>A (n.82483+2T>A)
c.82402+2T>A (n.82402+2T>A)
c.64165+2T>A (n.64165+2T>A)
c.54019+2T>A (n.54019+2T>A)
2g.178551629C>ACA349502535TTN,TTN-AS1c.83566+1G>T (n.83566+1G>T)
c.64651+1G>T (n.64651+1G>T)
c.64450+1G>T (n.64450+1G>T)
c.64075+1G>T (n.64075+1G>T)
c.91270+1G>T (n.91270+1G>T)
c.86347+1G>T (n.86347+1G>T)
n.447-19671C>A
n.2043+9268C>A
c.90367+1G>T (n.90367+1G>T)
c.64261+1G>T (n.64261+1G>T)
c.64120+1G>T (n.64120+1G>T)
c.90163+1G>T (n.90163+1G>T)
c.85561+1G>T (n.85561+1G>T)
c.85558+1G>T (n.85558+1G>T)
c.82600+1G>T (n.82600+1G>T)
c.64216+1G>T (n.64216+1G>T)
c.85711+1G>T (n.85711+1G>T)
c.85708+1G>T (n.85708+1G>T)
c.85141+1G>T (n.85141+1G>T)
c.82483+1G>T (n.82483+1G>T)
c.82402+1G>T (n.82402+1G>T)
c.64165+1G>T (n.64165+1G>T)
c.54019+1G>T (n.54019+1G>T)
2g.178551629C>GCA349502532TTN,TTN-AS1c.83566+1G>C (n.83566+1G>C)
c.64651+1G>C (n.64651+1G>C)
c.64450+1G>C (n.64450+1G>C)
c.64075+1G>C (n.64075+1G>C)
c.91270+1G>C (n.91270+1G>C)
c.86347+1G>C (n.86347+1G>C)
n.447-19671C>G
n.2043+9268C>G
c.90367+1G>C (n.90367+1G>C)
c.64261+1G>C (n.64261+1G>C)
c.64120+1G>C (n.64120+1G>C)
c.90163+1G>C (n.90163+1G>C)
c.85561+1G>C (n.85561+1G>C)
c.85558+1G>C (n.85558+1G>C)
c.82600+1G>C (n.82600+1G>C)
c.64216+1G>C (n.64216+1G>C)
c.85711+1G>C (n.85711+1G>C)
c.85708+1G>C (n.85708+1G>C)
c.85141+1G>C (n.85141+1G>C)
c.82483+1G>C (n.82483+1G>C)
c.82402+1G>C (n.82402+1G>C)
c.64165+1G>C (n.64165+1G>C)
c.54019+1G>C (n.54019+1G>C)
 gnomAD v4
2g.178551629C>TCA349502524TTN,TTN-AS1c.83566+1G>A (n.83566+1G>A)
c.64651+1G>A (n.64651+1G>A)
c.64450+1G>A (n.64450+1G>A)
c.64075+1G>A (n.64075+1G>A)
c.91270+1G>A (n.91270+1G>A)
c.86347+1G>A (n.86347+1G>A)
n.447-19671C>T
n.2043+9268C>T
c.90367+1G>A (n.90367+1G>A)
c.64261+1G>A (n.64261+1G>A)
c.64120+1G>A (n.64120+1G>A)
c.90163+1G>A (n.90163+1G>A)
c.85561+1G>A (n.85561+1G>A)
c.85558+1G>A (n.85558+1G>A)
c.82600+1G>A (n.82600+1G>A)
c.64216+1G>A (n.64216+1G>A)
c.85711+1G>A (n.85711+1G>A)
c.85708+1G>A (n.85708+1G>A)
c.85141+1G>A (n.85141+1G>A)
c.82483+1G>A (n.82483+1G>A)
c.82402+1G>A (n.82402+1G>A)
c.64165+1G>A (n.64165+1G>A)
c.54019+1G>A (n.54019+1G>A)
 ClinVar dbSNP gnomAD v4
2g.178551630C>ACA349502537TTN,TTN-AS1c.83566G>T (p.Asp27856Tyr)
c.64651G>T (p.Asp21551Tyr)
c.64450G>T (p.Asp21484Tyr)
c.64075G>T (p.Asp21359Tyr)
c.91270G>T (p.Asp30424Tyr)
c.86347G>T (p.Asp28783Tyr)
n.447-19670C>A
n.2043+9269C>A
c.90367G>T (p.Asp30123Tyr)
c.64261G>T (p.Asp21421Tyr)
c.64120G>T (p.Asp21374Tyr)
c.90163G>T (p.Asp30055Tyr)
c.85561G>T (p.Asp28521Tyr)
c.85558G>T (p.Asp28520Tyr)
c.82600G>T (p.Asp27534Tyr)
c.64216G>T (p.Asp21406Tyr)
c.85711G>T (p.Asp28571Tyr)
c.85708G>T (p.Asp28570Tyr)
c.85141G>T (p.Asp28381Tyr)
c.82483G>T (p.Asp27495Tyr)
c.82402G>T (p.Asp27468Tyr)
c.64165G>T (p.Asp21389Tyr)
c.54019G>T (p.Asp18007Tyr)
2g.178551630C>GCA349502539TTN,TTN-AS1c.83566G>C (p.Asp27856His)
c.64651G>C (p.Asp21551His)
c.64450G>C (p.Asp21484His)
c.64075G>C (p.Asp21359His)
c.91270G>C (p.Asp30424His)
c.86347G>C (p.Asp28783His)
n.447-19670C>G
n.2043+9269C>G
c.90367G>C (p.Asp30123His)
c.64261G>C (p.Asp21421His)
c.64120G>C (p.Asp21374His)
c.90163G>C (p.Asp30055His)
c.85561G>C (p.Asp28521His)
c.85558G>C (p.Asp28520His)
c.82600G>C (p.Asp27534His)
c.64216G>C (p.Asp21406His)
c.85711G>C (p.Asp28571His)
c.85708G>C (p.Asp28570His)
c.85141G>C (p.Asp28381His)
c.82483G>C (p.Asp27495His)
c.82402G>C (p.Asp27468His)
c.64165G>C (p.Asp21389His)
c.54019G>C (p.Asp18007His)
2g.178551630C>TCA349502542TTN,TTN-AS1c.83566G>A (p.Asp27856Asn)
c.64651G>A (p.Asp21551Asn)
c.64450G>A (p.Asp21484Asn)
c.64075G>A (p.Asp21359Asn)
c.91270G>A (p.Asp30424Asn)
c.86347G>A (p.Asp28783Asn)
n.447-19670C>T
n.2043+9269C>T
c.90367G>A (p.Asp30123Asn)
c.64261G>A (p.Asp21421Asn)
c.64120G>A (p.Asp21374Asn)
c.90163G>A (p.Asp30055Asn)
c.85561G>A (p.Asp28521Asn)
c.85558G>A (p.Asp28520Asn)
c.82600G>A (p.Asp27534Asn)
c.64216G>A (p.Asp21406Asn)
c.85711G>A (p.Asp28571Asn)
c.85708G>A (p.Asp28570Asn)
c.85141G>A (p.Asp28381Asn)
c.82483G>A (p.Asp27495Asn)
c.82402G>A (p.Asp27468Asn)
c.64165G>A (p.Asp21389Asn)
c.54019G>A (p.Asp18007Asn)
2g.178551631T>ACA430103974TTN,TTN-AS1c.83565A>T (p.Val27855=)
c.64650A>T (p.Val21550=)
c.64449A>T (p.Val21483=)
c.64074A>T (p.Val21358=)
c.91269A>T (p.Val30423=)
c.86346A>T (p.Val28782=)
n.447-19669T>A
n.2043+9270T>A
c.90366A>T (p.Val30122=)
c.64260A>T (p.Val21420=)
c.64119A>T (p.Val21373=)
c.90162A>T (p.Val30054=)
c.85560A>T (p.Val28520=)
c.85557A>T (p.Val28519=)
c.82599A>T (p.Val27533=)
c.64215A>T (p.Val21405=)
c.85710A>T (p.Val28570=)
c.85707A>T (p.Val28569=)
c.85140A>T (p.Val28380=)
c.82482A>T (p.Val27494=)
c.82401A>T (p.Val27467=)
c.64164A>T (p.Val21388=)
c.54018A>T (p.Val18006=)
2g.178551631T>CCA430103975TTN,TTN-AS1c.83565A>G (p.Val27855=)
c.64650A>G (p.Val21550=)
c.64449A>G (p.Val21483=)
c.64074A>G (p.Val21358=)
c.91269A>G (p.Val30423=)
c.86346A>G (p.Val28782=)
n.447-19669T>C
n.2043+9270T>C
c.90366A>G (p.Val30122=)
c.64260A>G (p.Val21420=)
c.64119A>G (p.Val21373=)
c.90162A>G (p.Val30054=)
c.85560A>G (p.Val28520=)
c.85557A>G (p.Val28519=)
c.82599A>G (p.Val27533=)
c.64215A>G (p.Val21405=)
c.85710A>G (p.Val28570=)
c.85707A>G (p.Val28569=)
c.85140A>G (p.Val28380=)
c.82482A>G (p.Val27494=)
c.82401A>G (p.Val27467=)
c.64164A>G (p.Val21388=)
c.54018A>G (p.Val18006=)
2g.178551631T>GCA430103976TTN,TTN-AS1c.83565A>C (p.Val27855=)
c.64650A>C (p.Val21550=)
c.64449A>C (p.Val21483=)
c.64074A>C (p.Val21358=)
c.91269A>C (p.Val30423=)
c.86346A>C (p.Val28782=)
n.447-19669T>G
n.2043+9270T>G
c.90366A>C (p.Val30122=)
c.64260A>C (p.Val21420=)
c.64119A>C (p.Val21373=)
c.90162A>C (p.Val30054=)
c.85560A>C (p.Val28520=)
c.85557A>C (p.Val28519=)
c.82599A>C (p.Val27533=)
c.64215A>C (p.Val21405=)
c.85710A>C (p.Val28570=)
c.85707A>C (p.Val28569=)
c.85140A>C (p.Val28380=)
c.82482A>C (p.Val27494=)
c.82401A>C (p.Val27467=)
c.64164A>C (p.Val21388=)
c.54018A>C (p.Val18006=)
2g.178551632A>CCA349502543TTN,TTN-AS1c.83564T>G (p.Val27855Gly)
c.64649T>G (p.Val21550Gly)
c.64448T>G (p.Val21483Gly)
c.64073T>G (p.Val21358Gly)
c.91268T>G (p.Val30423Gly)
c.86345T>G (p.Val28782Gly)
n.447-19668A>C
n.2043+9271A>C
c.90365T>G (p.Val30122Gly)
c.64259T>G (p.Val21420Gly)
c.64118T>G (p.Val21373Gly)
c.90161T>G (p.Val30054Gly)
c.85559T>G (p.Val28520Gly)
c.85556T>G (p.Val28519Gly)
c.82598T>G (p.Val27533Gly)
c.64214T>G (p.Val21405Gly)
c.85709T>G (p.Val28570Gly)
c.85706T>G (p.Val28569Gly)
c.85139T>G (p.Val28380Gly)
c.82481T>G (p.Val27494Gly)
c.82400T>G (p.Val27467Gly)
c.64163T>G (p.Val21388Gly)
c.54017T>G (p.Val18006Gly)
2g.178551632A>GCA349502544TTN,TTN-AS1c.83564T>C (p.Val27855Ala)
c.64649T>C (p.Val21550Ala)
c.64448T>C (p.Val21483Ala)
c.64073T>C (p.Val21358Ala)
c.91268T>C (p.Val30423Ala)
c.86345T>C (p.Val28782Ala)
n.447-19668A>G
n.2043+9271A>G
c.90365T>C (p.Val30122Ala)
c.64259T>C (p.Val21420Ala)
c.64118T>C (p.Val21373Ala)
c.90161T>C (p.Val30054Ala)
c.85559T>C (p.Val28520Ala)
c.85556T>C (p.Val28519Ala)
c.82598T>C (p.Val27533Ala)
c.64214T>C (p.Val21405Ala)
c.85709T>C (p.Val28570Ala)
c.85706T>C (p.Val28569Ala)
c.85139T>C (p.Val28380Ala)
c.82481T>C (p.Val27494Ala)
c.82400T>C (p.Val27467Ala)
c.64163T>C (p.Val21388Ala)
c.54017T>C (p.Val18006Ala)
2g.178551632A>TCA349502545TTN,TTN-AS1c.83564T>A (p.Val27855Glu)
c.64649T>A (p.Val21550Glu)
c.64448T>A (p.Val21483Glu)
c.64073T>A (p.Val21358Glu)
c.91268T>A (p.Val30423Glu)
c.86345T>A (p.Val28782Glu)
n.447-19668A>T
n.2043+9271A>T
c.90365T>A (p.Val30122Glu)
c.64259T>A (p.Val21420Glu)
c.64118T>A (p.Val21373Glu)
c.90161T>A (p.Val30054Glu)
c.85559T>A (p.Val28520Glu)
c.85556T>A (p.Val28519Glu)
c.82598T>A (p.Val27533Glu)
c.64214T>A (p.Val21405Glu)
c.85709T>A (p.Val28570Glu)
c.85706T>A (p.Val28569Glu)
c.85139T>A (p.Val28380Glu)
c.82481T>A (p.Val27494Glu)
c.82400T>A (p.Val27467Glu)
c.64163T>A (p.Val21388Glu)
c.54017T>A (p.Val18006Glu)
2g.178551633C>ACA349502546TTN,TTN-AS1c.83563G>T (p.Val27855Leu)
c.64648G>T (p.Val21550Leu)
c.64447G>T (p.Val21483Leu)
c.64072G>T (p.Val21358Leu)
c.91267G>T (p.Val30423Leu)
c.86344G>T (p.Val28782Leu)
n.447-19667C>A
n.2043+9272C>A
c.90364G>T (p.Val30122Leu)
c.64258G>T (p.Val21420Leu)
c.64117G>T (p.Val21373Leu)
c.90160G>T (p.Val30054Leu)
c.85558G>T (p.Val28520Leu)
c.85555G>T (p.Val28519Leu)
c.82597G>T (p.Val27533Leu)
c.64213G>T (p.Val21405Leu)
c.85708G>T (p.Val28570Leu)
c.85705G>T (p.Val28569Leu)
c.85138G>T (p.Val28380Leu)
c.82480G>T (p.Val27494Leu)
c.82399G>T (p.Val27467Leu)
c.64162G>T (p.Val21388Leu)
c.54016G>T (p.Val18006Leu)
2g.178551633C=CA1310521122TTN,TTN-AS1c.83563G= (p.Val27855=)
c.64648G= (p.Val21550=)
c.64447G= (p.Val21483=)
c.64072G= (p.Val21358=)
c.91267G= (p.Val30423=)
c.86344G= (p.Val28782=)
n.447-19667C=
n.2043+9272C=
c.90364G= (p.Val30122=)
c.64258G= (p.Val21420=)
c.64117G= (p.Val21373=)
c.90160G= (p.Val30054=)
c.85558G= (p.Val28520=)
c.85555G= (p.Val28519=)
c.82597G= (p.Val27533=)
c.64213G= (p.Val21405=)
c.85708G= (p.Val28570=)
c.85705G= (p.Val28569=)
c.85138G= (p.Val28380=)
c.82480G= (p.Val27494=)
c.82399G= (p.Val27467=)
c.64162G= (p.Val21388=)
c.54016G= (p.Val18006=)
2g.178551633C>GCA349502547TTN,TTN-AS1c.83563G>C (p.Val27855Leu)
c.64648G>C (p.Val21550Leu)
c.64447G>C (p.Val21483Leu)
c.64072G>C (p.Val21358Leu)
c.91267G>C (p.Val30423Leu)
c.86344G>C (p.Val28782Leu)
n.447-19667C>G
n.2043+9272C>G
c.90364G>C (p.Val30122Leu)
c.64258G>C (p.Val21420Leu)
c.64117G>C (p.Val21373Leu)
c.90160G>C (p.Val30054Leu)
c.85558G>C (p.Val28520Leu)
c.85555G>C (p.Val28519Leu)
c.82597G>C (p.Val27533Leu)
c.64213G>C (p.Val21405Leu)
c.85708G>C (p.Val28570Leu)
c.85705G>C (p.Val28569Leu)
c.85138G>C (p.Val28380Leu)
c.82480G>C (p.Val27494Leu)
c.82399G>C (p.Val27467Leu)
c.64162G>C (p.Val21388Leu)
c.54016G>C (p.Val18006Leu)
 gnomAD v4
2g.178551633C>TCA349502548TTN,TTN-AS1c.83563G>A (p.Val27855Ile)
c.64648G>A (p.Val21550Ile)
c.64447G>A (p.Val21483Ile)
c.64072G>A (p.Val21358Ile)
c.91267G>A (p.Val30423Ile)
c.86344G>A (p.Val28782Ile)
n.447-19667C>T
n.2043+9272C>T
c.90364G>A (p.Val30122Ile)
c.64258G>A (p.Val21420Ile)
c.64117G>A (p.Val21373Ile)
c.90160G>A (p.Val30054Ile)
c.85558G>A (p.Val28520Ile)
c.85555G>A (p.Val28519Ile)
c.82597G>A (p.Val27533Ile)
c.64213G>A (p.Val21405Ile)
c.85708G>A (p.Val28570Ile)
c.85705G>A (p.Val28569Ile)
c.85138G>A (p.Val28380Ile)
c.82480G>A (p.Val27494Ile)
c.82399G>A (p.Val27467Ile)
c.64162G>A (p.Val21388Ile)
c.54016G>A (p.Val18006Ile)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.178551634T>ACA430103980TTN,TTN-AS1c.83562A>T (p.Pro27854=)
c.64647A>T (p.Pro21549=)
c.64446A>T (p.Pro21482=)
c.64071A>T (p.Pro21357=)
c.91266A>T (p.Pro30422=)
c.86343A>T (p.Pro28781=)
n.447-19666T>A
n.2043+9273T>A
c.90363A>T (p.Pro30121=)
c.64257A>T (p.Pro21419=)
c.64116A>T (p.Pro21372=)
c.90159A>T (p.Pro30053=)
c.85557A>T (p.Pro28519=)
c.85554A>T (p.Pro28518=)
c.82596A>T (p.Pro27532=)
c.64212A>T (p.Pro21404=)
c.85707A>T (p.Pro28569=)
c.85704A>T (p.Pro28568=)
c.85137A>T (p.Pro28379=)
c.82479A>T (p.Pro27493=)
c.82398A>T (p.Pro27466=)
c.64161A>T (p.Pro21387=)
c.54015A>T (p.Pro18005=)
2g.178551634T>CCA430103981TTN,TTN-AS1c.83562A>G (p.Pro27854=)
c.64647A>G (p.Pro21549=)
c.64446A>G (p.Pro21482=)
c.64071A>G (p.Pro21357=)
c.91266A>G (p.Pro30422=)
c.86343A>G (p.Pro28781=)
n.447-19666T>C
n.2043+9273T>C
c.90363A>G (p.Pro30121=)
c.64257A>G (p.Pro21419=)
c.64116A>G (p.Pro21372=)
c.90159A>G (p.Pro30053=)
c.85557A>G (p.Pro28519=)
c.85554A>G (p.Pro28518=)
c.82596A>G (p.Pro27532=)
c.64212A>G (p.Pro21404=)
c.85707A>G (p.Pro28569=)
c.85704A>G (p.Pro28568=)
c.85137A>G (p.Pro28379=)
c.82479A>G (p.Pro27493=)
c.82398A>G (p.Pro27466=)
c.64161A>G (p.Pro21387=)
c.54015A>G (p.Pro18005=)
2g.178551634T>GCA430103982TTN,TTN-AS1c.83562A>C (p.Pro27854=)
c.64647A>C (p.Pro21549=)
c.64446A>C (p.Pro21482=)
c.64071A>C (p.Pro21357=)
c.91266A>C (p.Pro30422=)
c.86343A>C (p.Pro28781=)
n.447-19666T>G
n.2043+9273T>G
c.90363A>C (p.Pro30121=)
c.64257A>C (p.Pro21419=)
c.64116A>C (p.Pro21372=)
c.90159A>C (p.Pro30053=)
c.85557A>C (p.Pro28519=)
c.85554A>C (p.Pro28518=)
c.82596A>C (p.Pro27532=)
c.64212A>C (p.Pro21404=)
c.85707A>C (p.Pro28569=)
c.85704A>C (p.Pro28568=)
c.85137A>C (p.Pro28379=)
c.82479A>C (p.Pro27493=)
c.82398A>C (p.Pro27466=)
c.64161A>C (p.Pro21387=)
c.54015A>C (p.Pro18005=)
2g.178551635G>ACA349502550TTN,TTN-AS1c.83561C>T (p.Pro27854Leu)
c.64646C>T (p.Pro21549Leu)
c.64445C>T (p.Pro21482Leu)
c.64070C>T (p.Pro21357Leu)
c.91265C>T (p.Pro30422Leu)
c.86342C>T (p.Pro28781Leu)
n.447-19665G>A
n.2043+9274G>A
c.90362C>T (p.Pro30121Leu)
c.64256C>T (p.Pro21419Leu)
c.64115C>T (p.Pro21372Leu)
c.90158C>T (p.Pro30053Leu)
c.85556C>T (p.Pro28519Leu)
c.85553C>T (p.Pro28518Leu)
c.82595C>T (p.Pro27532Leu)
c.64211C>T (p.Pro21404Leu)
c.85706C>T (p.Pro28569Leu)
c.85703C>T (p.Pro28568Leu)
c.85136C>T (p.Pro28379Leu)
c.82478C>T (p.Pro27493Leu)
c.82397C>T (p.Pro27466Leu)
c.64160C>T (p.Pro21387Leu)
c.54014C>T (p.Pro18005Leu)
 gnomAD v4
2g.178551635G>CCA349502553TTN,TTN-AS1c.83561C>G (p.Pro27854Arg)
c.64646C>G (p.Pro21549Arg)
c.64445C>G (p.Pro21482Arg)
c.64070C>G (p.Pro21357Arg)
c.91265C>G (p.Pro30422Arg)
c.86342C>G (p.Pro28781Arg)
n.447-19665G>C
n.2043+9274G>C
c.90362C>G (p.Pro30121Arg)
c.64256C>G (p.Pro21419Arg)
c.64115C>G (p.Pro21372Arg)
c.90158C>G (p.Pro30053Arg)
c.85556C>G (p.Pro28519Arg)
c.85553C>G (p.Pro28518Arg)
c.82595C>G (p.Pro27532Arg)
c.64211C>G (p.Pro21404Arg)
c.85706C>G (p.Pro28569Arg)
c.85703C>G (p.Pro28568Arg)
c.85136C>G (p.Pro28379Arg)
c.82478C>G (p.Pro27493Arg)
c.82397C>G (p.Pro27466Arg)
c.64160C>G (p.Pro21387Arg)
c.54014C>G (p.Pro18005Arg)
2g.178551635G>TCA349502554TTN,TTN-AS1c.83561C>A (p.Pro27854Gln)
c.64646C>A (p.Pro21549Gln)
c.64445C>A (p.Pro21482Gln)
c.64070C>A (p.Pro21357Gln)
c.91265C>A (p.Pro30422Gln)
c.86342C>A (p.Pro28781Gln)
n.447-19665G>T
n.2043+9274G>T
c.90362C>A (p.Pro30121Gln)
c.64256C>A (p.Pro21419Gln)
c.64115C>A (p.Pro21372Gln)
c.90158C>A (p.Pro30053Gln)
c.85556C>A (p.Pro28519Gln)
c.85553C>A (p.Pro28518Gln)
c.82595C>A (p.Pro27532Gln)
c.64211C>A (p.Pro21404Gln)
c.85706C>A (p.Pro28569Gln)
c.85703C>A (p.Pro28568Gln)
c.85136C>A (p.Pro28379Gln)
c.82478C>A (p.Pro27493Gln)
c.82397C>A (p.Pro27466Gln)
c.64160C>A (p.Pro21387Gln)
c.54014C>A (p.Pro18005Gln)
2g.178551636delCA645531283TTN,TTN-AS1c.83561del (p.Pro27854GlnfsTer2)
c.64646del (p.Pro21549GlnfsTer2)
c.64445del (p.Pro21482GlnfsTer2)
c.64070del (p.Pro21357GlnfsTer2)
c.91265del (p.Pro30422GlnfsTer2)
c.86342del (p.Pro28781GlnfsTer2)
n.447-19664del
n.2043+9275del
c.90362del (p.Pro30121GlnfsTer2)
c.64256del (p.Pro21419GlnfsTer2)
c.64115del (p.Pro21372GlnfsTer2)
c.90158del (p.Pro30053GlnfsTer2)
c.85556del (p.Pro28519GlnfsTer2)
c.85553del (p.Pro28518GlnfsTer2)
c.82595del (p.Pro27532GlnfsTer2)
c.64211del (p.Pro21404GlnfsTer2)
c.85706del (p.Pro28569GlnfsTer2)
c.85703del (p.Pro28568GlnfsTer2)
c.85136del (p.Pro28379GlnfsTer2)
c.82478del (p.Pro27493GlnfsTer2)
c.82397del (p.Pro27466GlnfsTer2)
c.64160del (p.Pro21387GlnfsTer2)
c.54014del (p.Pro18005GlnfsTer2)
 COSMIC COSMIC COSMIC COSMIC
2g.178551636G>ACA349502557TTN,TTN-AS1c.83560C>T (p.Pro27854Ser)
c.64645C>T (p.Pro21549Ser)
c.64444C>T (p.Pro21482Ser)
c.64069C>T (p.Pro21357Ser)
c.91264C>T (p.Pro30422Ser)
c.86341C>T (p.Pro28781Ser)
n.447-19664G>A
n.2043+9275G>A
c.90361C>T (p.Pro30121Ser)
c.64255C>T (p.Pro21419Ser)
c.64114C>T (p.Pro21372Ser)
c.90157C>T (p.Pro30053Ser)
c.85555C>T (p.Pro28519Ser)
c.85552C>T (p.Pro28518Ser)
c.82594C>T (p.Pro27532Ser)
c.64210C>T (p.Pro21404Ser)
c.85705C>T (p.Pro28569Ser)
c.85702C>T (p.Pro28568Ser)
c.85135C>T (p.Pro28379Ser)
c.82477C>T (p.Pro27493Ser)
c.82396C>T (p.Pro27466Ser)
c.64159C>T (p.Pro21387Ser)
c.54013C>T (p.Pro18005Ser)
2g.178551636G>CCA349502558TTN,TTN-AS1c.83560C>G (p.Pro27854Ala)
c.64645C>G (p.Pro21549Ala)
c.64444C>G (p.Pro21482Ala)
c.64069C>G (p.Pro21357Ala)
c.91264C>G (p.Pro30422Ala)
c.86341C>G (p.Pro28781Ala)
n.447-19664G>C
n.2043+9275G>C
c.90361C>G (p.Pro30121Ala)
c.64255C>G (p.Pro21419Ala)
c.64114C>G (p.Pro21372Ala)
c.90157C>G (p.Pro30053Ala)
c.85555C>G (p.Pro28519Ala)
c.85552C>G (p.Pro28518Ala)
c.82594C>G (p.Pro27532Ala)
c.64210C>G (p.Pro21404Ala)
c.85705C>G (p.Pro28569Ala)
c.85702C>G (p.Pro28568Ala)
c.85135C>G (p.Pro28379Ala)
c.82477C>G (p.Pro27493Ala)
c.82396C>G (p.Pro27466Ala)
c.64159C>G (p.Pro21387Ala)
c.54013C>G (p.Pro18005Ala)
2g.178551636G>TCA349502555TTN,TTN-AS1c.83560C>A (p.Pro27854Thr)
c.64645C>A (p.Pro21549Thr)
c.64444C>A (p.Pro21482Thr)
c.64069C>A (p.Pro21357Thr)
c.91264C>A (p.Pro30422Thr)
c.86341C>A (p.Pro28781Thr)
n.447-19664G>T
n.2043+9275G>T
c.90361C>A (p.Pro30121Thr)
c.64255C>A (p.Pro21419Thr)
c.64114C>A (p.Pro21372Thr)
c.90157C>A (p.Pro30053Thr)
c.85555C>A (p.Pro28519Thr)
c.85552C>A (p.Pro28518Thr)
c.82594C>A (p.Pro27532Thr)
c.64210C>A (p.Pro21404Thr)
c.85705C>A (p.Pro28569Thr)
c.85702C>A (p.Pro28568Thr)
c.85135C>A (p.Pro28379Thr)
c.82477C>A (p.Pro27493Thr)
c.82396C>A (p.Pro27466Thr)
c.64159C>A (p.Pro21387Thr)
c.54013C>A (p.Pro18005Thr)
2g.178551637A>CCA430103987TTN,TTN-AS1c.83559T>G (p.Ser27853=)
c.64644T>G (p.Ser21548=)
c.64443T>G (p.Ser21481=)
c.64068T>G (p.Ser21356=)
c.91263T>G (p.Ser30421=)
c.86340T>G (p.Ser28780=)
n.447-19663A>C
n.2043+9276A>C
c.90360T>G (p.Ser30120=)
c.64254T>G (p.Ser21418=)
c.64113T>G (p.Ser21371=)
c.90156T>G (p.Ser30052=)
c.85554T>G (p.Ser28518=)
c.85551T>G (p.Ser28517=)
c.82593T>G (p.Ser27531=)
c.64209T>G (p.Ser21403=)
c.85704T>G (p.Ser28568=)
c.85701T>G (p.Ser28567=)
c.85134T>G (p.Ser28378=)
c.82476T>G (p.Ser27492=)
c.82395T>G (p.Ser27465=)
c.64158T>G (p.Ser21386=)
c.54012T>G (p.Ser18004=)
2g.178551637A>GCA430103988TTN,TTN-AS1c.83559T>C (p.Ser27853=)
c.64644T>C (p.Ser21548=)
c.64443T>C (p.Ser21481=)
c.64068T>C (p.Ser21356=)
c.91263T>C (p.Ser30421=)
c.86340T>C (p.Ser28780=)
n.447-19663A>G
n.2043+9276A>G
c.90360T>C (p.Ser30120=)
c.64254T>C (p.Ser21418=)
c.64113T>C (p.Ser21371=)
c.90156T>C (p.Ser30052=)
c.85554T>C (p.Ser28518=)
c.85551T>C (p.Ser28517=)
c.82593T>C (p.Ser27531=)
c.64209T>C (p.Ser21403=)
c.85704T>C (p.Ser28568=)
c.85701T>C (p.Ser28567=)
c.85134T>C (p.Ser28378=)
c.82476T>C (p.Ser27492=)
c.82395T>C (p.Ser27465=)
c.64158T>C (p.Ser21386=)
c.54012T>C (p.Ser18004=)
2g.178551637A>TCA430103989TTN,TTN-AS1c.83559T>A (p.Ser27853=)
c.64644T>A (p.Ser21548=)
c.64443T>A (p.Ser21481=)
c.64068T>A (p.Ser21356=)
c.91263T>A (p.Ser30421=)
c.86340T>A (p.Ser28780=)
n.447-19663A>T
n.2043+9276A>T
c.90360T>A (p.Ser30120=)
c.64254T>A (p.Ser21418=)
c.64113T>A (p.Ser21371=)
c.90156T>A (p.Ser30052=)
c.85554T>A (p.Ser28518=)
c.85551T>A (p.Ser28517=)
c.82593T>A (p.Ser27531=)
c.64209T>A (p.Ser21403=)
c.85704T>A (p.Ser28568=)
c.85701T>A (p.Ser28567=)
c.85134T>A (p.Ser28378=)
c.82476T>A (p.Ser27492=)
c.82395T>A (p.Ser27465=)
c.64158T>A (p.Ser21386=)
c.54012T>A (p.Ser18004=)
2g.178551638delCA2662127155TTN,TTN-AS1c.83558del (p.Ser27853PhefsTer3)
c.64643del (p.Ser21548PhefsTer3)
c.64442del (p.Ser21481PhefsTer3)
c.64067del (p.Ser21356PhefsTer3)
c.91262del (p.Ser30421PhefsTer3)
c.86339del (p.Ser28780PhefsTer3)
n.447-19662del
n.2043+9277del
c.90359del (p.Ser30120PhefsTer3)
c.64253del (p.Ser21418PhefsTer3)
c.64112del (p.Ser21371PhefsTer3)
c.90155del (p.Ser30052PhefsTer3)
c.85553del (p.Ser28518PhefsTer3)
c.85550del (p.Ser28517PhefsTer3)
c.82592del (p.Ser27531PhefsTer3)
c.64208del (p.Ser21403PhefsTer3)
c.85703del (p.Ser28568PhefsTer3)
c.85700del (p.Ser28567PhefsTer3)
c.85133del (p.Ser28378PhefsTer3)
c.82475del (p.Ser27492PhefsTer3)
c.82394del (p.Ser27465PhefsTer3)
c.64157del (p.Ser21386PhefsTer3)
c.54011del (p.Ser18004PhefsTer3)
 gnomAD v4
2g.178551638G>ACA349502560TTN,TTN-AS1c.83558C>T (p.Ser27853Phe)
c.64643C>T (p.Ser21548Phe)
c.64442C>T (p.Ser21481Phe)
c.64067C>T (p.Ser21356Phe)
c.91262C>T (p.Ser30421Phe)
c.86339C>T (p.Ser28780Phe)
n.447-19662G>A
n.2043+9277G>A
c.90359C>T (p.Ser30120Phe)
c.64253C>T (p.Ser21418Phe)
c.64112C>T (p.Ser21371Phe)
c.90155C>T (p.Ser30052Phe)
c.85553C>T (p.Ser28518Phe)
c.85550C>T (p.Ser28517Phe)
c.82592C>T (p.Ser27531Phe)
c.64208C>T (p.Ser21403Phe)
c.85703C>T (p.Ser28568Phe)
c.85700C>T (p.Ser28567Phe)
c.85133C>T (p.Ser28378Phe)
c.82475C>T (p.Ser27492Phe)
c.82394C>T (p.Ser27465Phe)
c.64157C>T (p.Ser21386Phe)
c.54011C>T (p.Ser18004Phe)
 COSMIC COSMIC COSMIC COSMIC
2g.178551638G>CCA349502562TTN,TTN-AS1c.83558C>G (p.Ser27853Cys)
c.64643C>G (p.Ser21548Cys)
c.64442C>G (p.Ser21481Cys)
c.64067C>G (p.Ser21356Cys)
c.91262C>G (p.Ser30421Cys)
c.86339C>G (p.Ser28780Cys)
n.447-19662G>C
n.2043+9277G>C
c.90359C>G (p.Ser30120Cys)
c.64253C>G (p.Ser21418Cys)
c.64112C>G (p.Ser21371Cys)
c.90155C>G (p.Ser30052Cys)
c.85553C>G (p.Ser28518Cys)
c.85550C>G (p.Ser28517Cys)
c.82592C>G (p.Ser27531Cys)
c.64208C>G (p.Ser21403Cys)
c.85703C>G (p.Ser28568Cys)
c.85700C>G (p.Ser28567Cys)
c.85133C>G (p.Ser28378Cys)
c.82475C>G (p.Ser27492Cys)
c.82394C>G (p.Ser27465Cys)
c.64157C>G (p.Ser21386Cys)
c.54011C>G (p.Ser18004Cys)
2g.178551638G>TCA349502568TTN,TTN-AS1c.83558C>A (p.Ser27853Tyr)
c.64643C>A (p.Ser21548Tyr)
c.64442C>A (p.Ser21481Tyr)
c.64067C>A (p.Ser21356Tyr)
c.91262C>A (p.Ser30421Tyr)
c.86339C>A (p.Ser28780Tyr)
n.447-19662G>T
n.2043+9277G>T
c.90359C>A (p.Ser30120Tyr)
c.64253C>A (p.Ser21418Tyr)
c.64112C>A (p.Ser21371Tyr)
c.90155C>A (p.Ser30052Tyr)
c.85553C>A (p.Ser28518Tyr)
c.85550C>A (p.Ser28517Tyr)
c.82592C>A (p.Ser27531Tyr)
c.64208C>A (p.Ser21403Tyr)
c.85703C>A (p.Ser28568Tyr)
c.85700C>A (p.Ser28567Tyr)
c.85133C>A (p.Ser28378Tyr)
c.82475C>A (p.Ser27492Tyr)
c.82394C>A (p.Ser27465Tyr)
c.64157C>A (p.Ser21386Tyr)
c.54011C>A (p.Ser18004Tyr)
2g.178551639A=CA1310521124TTN,TTN-AS1c.83557T= (p.Ser27853=)
c.64642T= (p.Ser21548=)
c.64441T= (p.Ser21481=)
c.64066T= (p.Ser21356=)
c.91261T= (p.Ser30421=)
c.86338T= (p.Ser28780=)
n.447-19661A=
n.2043+9278A=
c.90358T= (p.Ser30120=)
c.64252T= (p.Ser21418=)
c.64111T= (p.Ser21371=)
c.90154T= (p.Ser30052=)
c.85552T= (p.Ser28518=)
c.85549T= (p.Ser28517=)
c.82591T= (p.Ser27531=)
c.64207T= (p.Ser21403=)
c.85702T= (p.Ser28568=)
c.85699T= (p.Ser28567=)
c.85132T= (p.Ser28378=)
c.82474T= (p.Ser27492=)
c.82393T= (p.Ser27465=)
c.64156T= (p.Ser21386=)
c.54010T= (p.Ser18004=)
2g.178551639A>CCA349502570TTN,TTN-AS1c.83557T>G (p.Ser27853Ala)
c.64642T>G (p.Ser21548Ala)
c.64441T>G (p.Ser21481Ala)
c.64066T>G (p.Ser21356Ala)
c.91261T>G (p.Ser30421Ala)
c.86338T>G (p.Ser28780Ala)
n.447-19661A>C
n.2043+9278A>C
c.90358T>G (p.Ser30120Ala)
c.64252T>G (p.Ser21418Ala)
c.64111T>G (p.Ser21371Ala)
c.90154T>G (p.Ser30052Ala)
c.85552T>G (p.Ser28518Ala)
c.85549T>G (p.Ser28517Ala)
c.82591T>G (p.Ser27531Ala)
c.64207T>G (p.Ser21403Ala)
c.85702T>G (p.Ser28568Ala)
c.85699T>G (p.Ser28567Ala)
c.85132T>G (p.Ser28378Ala)
c.82474T>G (p.Ser27492Ala)
c.82393T>G (p.Ser27465Ala)
c.64156T>G (p.Ser21386Ala)
c.54010T>G (p.Ser18004Ala)
 gnomAD v4
2g.178551639A>GCA349502571TTN,TTN-AS1c.83557T>C (p.Ser27853Pro)
c.64642T>C (p.Ser21548Pro)
c.64441T>C (p.Ser21481Pro)
c.64066T>C (p.Ser21356Pro)
c.91261T>C (p.Ser30421Pro)
c.86338T>C (p.Ser28780Pro)
n.447-19661A>G
n.2043+9278A>G
c.90358T>C (p.Ser30120Pro)
c.64252T>C (p.Ser21418Pro)
c.64111T>C (p.Ser21371Pro)
c.90154T>C (p.Ser30052Pro)
c.85552T>C (p.Ser28518Pro)
c.85549T>C (p.Ser28517Pro)
c.82591T>C (p.Ser27531Pro)
c.64207T>C (p.Ser21403Pro)
c.85702T>C (p.Ser28568Pro)
c.85699T>C (p.Ser28567Pro)
c.85132T>C (p.Ser28378Pro)
c.82474T>C (p.Ser27492Pro)
c.82393T>C (p.Ser27465Pro)
c.64156T>C (p.Ser21386Pro)
c.54010T>C (p.Ser18004Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178551639A>TCA349502572TTN,TTN-AS1c.83557T>A (p.Ser27853Thr)
c.64642T>A (p.Ser21548Thr)
c.64441T>A (p.Ser21481Thr)
c.64066T>A (p.Ser21356Thr)
c.91261T>A (p.Ser30421Thr)
c.86338T>A (p.Ser28780Thr)
n.447-19661A>T
n.2043+9278A>T
c.90358T>A (p.Ser30120Thr)
c.64252T>A (p.Ser21418Thr)
c.64111T>A (p.Ser21371Thr)
c.90154T>A (p.Ser30052Thr)
c.85552T>A (p.Ser28518Thr)
c.85549T>A (p.Ser28517Thr)
c.82591T>A (p.Ser27531Thr)
c.64207T>A (p.Ser21403Thr)
c.85702T>A (p.Ser28568Thr)
c.85699T>A (p.Ser28567Thr)
c.85132T>A (p.Ser28378Thr)
c.82474T>A (p.Ser27492Thr)
c.82393T>A (p.Ser27465Thr)
c.64156T>A (p.Ser21386Thr)
c.54010T>A (p.Ser18004Thr)
2g.178551640A=CA1310521126TTN,TTN-AS1c.83556T= (p.Val27852=)
c.64641T= (p.Val21547=)
c.64440T= (p.Val21480=)
c.64065T= (p.Val21355=)
c.91260T= (p.Val30420=)
c.86337T= (p.Val28779=)
n.447-19660A=
n.2043+9279A=
c.90357T= (p.Val30119=)
c.64251T= (p.Val21417=)
c.64110T= (p.Val21370=)
c.90153T= (p.Val30051=)
c.85551T= (p.Val28517=)
c.85548T= (p.Val28516=)
c.82590T= (p.Val27530=)
c.64206T= (p.Val21402=)
c.85701T= (p.Val28567=)
c.85698T= (p.Val28566=)
c.85131T= (p.Val28377=)
c.82473T= (p.Val27491=)
c.82392T= (p.Val27464=)
c.64155T= (p.Val21385=)
c.54009T= (p.Val18003=)
2g.178551640A>CCA430103993TTN,TTN-AS1c.83556T>G (p.Val27852=)
c.64641T>G (p.Val21547=)
c.64440T>G (p.Val21480=)
c.64065T>G (p.Val21355=)
c.91260T>G (p.Val30420=)
c.86337T>G (p.Val28779=)
n.447-19660A>C
n.2043+9279A>C
c.90357T>G (p.Val30119=)
c.64251T>G (p.Val21417=)
c.64110T>G (p.Val21370=)
c.90153T>G (p.Val30051=)
c.85551T>G (p.Val28517=)
c.85548T>G (p.Val28516=)
c.82590T>G (p.Val27530=)
c.64206T>G (p.Val21402=)
c.85701T>G (p.Val28567=)
c.85698T>G (p.Val28566=)
c.85131T>G (p.Val28377=)
c.82473T>G (p.Val27491=)
c.82392T>G (p.Val27464=)
c.64155T>G (p.Val21385=)
c.54009T>G (p.Val18003=)
2g.178551640A>GCA430103995TTN,TTN-AS1c.83556T>C (p.Val27852=)
c.64641T>C (p.Val21547=)
c.64440T>C (p.Val21480=)
c.64065T>C (p.Val21355=)
c.91260T>C (p.Val30420=)
c.86337T>C (p.Val28779=)
n.447-19660A>G
n.2043+9279A>G
c.90357T>C (p.Val30119=)
c.64251T>C (p.Val21417=)
c.64110T>C (p.Val21370=)
c.90153T>C (p.Val30051=)
c.85551T>C (p.Val28517=)
c.85548T>C (p.Val28516=)
c.82590T>C (p.Val27530=)
c.64206T>C (p.Val21402=)
c.85701T>C (p.Val28567=)
c.85698T>C (p.Val28566=)
c.85131T>C (p.Val28377=)
c.82473T>C (p.Val27491=)
c.82392T>C (p.Val27464=)
c.64155T>C (p.Val21385=)
c.54009T>C (p.Val18003=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178551640A>TCA430103997TTN,TTN-AS1c.83556T>A (p.Val27852=)
c.64641T>A (p.Val21547=)
c.64440T>A (p.Val21480=)
c.64065T>A (p.Val21355=)
c.91260T>A (p.Val30420=)
c.86337T>A (p.Val28779=)
n.447-19660A>T
n.2043+9279A>T
c.90357T>A (p.Val30119=)
c.64251T>A (p.Val21417=)
c.64110T>A (p.Val21370=)
c.90153T>A (p.Val30051=)
c.85551T>A (p.Val28517=)
c.85548T>A (p.Val28516=)
c.82590T>A (p.Val27530=)
c.64206T>A (p.Val21402=)
c.85701T>A (p.Val28567=)
c.85698T>A (p.Val28566=)
c.85131T>A (p.Val28377=)
c.82473T>A (p.Val27491=)
c.82392T>A (p.Val27464=)
c.64155T>A (p.Val21385=)
c.54009T>A (p.Val18003=)
2g.178551641A=CA1310521129TTN,TTN-AS1c.83555T= (p.Val27852=)
c.64640T= (p.Val21547=)
c.64439T= (p.Val21480=)
c.64064T= (p.Val21355=)
c.91259T= (p.Val30420=)
c.86336T= (p.Val28779=)
n.447-19659A=
n.2043+9280A=
c.90356T= (p.Val30119=)
c.64250T= (p.Val21417=)
c.64109T= (p.Val21370=)
c.90152T= (p.Val30051=)
c.85550T= (p.Val28517=)
c.85547T= (p.Val28516=)
c.82589T= (p.Val27530=)
c.64205T= (p.Val21402=)
c.85700T= (p.Val28567=)
c.85697T= (p.Val28566=)
c.85130T= (p.Val28377=)
c.82472T= (p.Val27491=)
c.82391T= (p.Val27464=)
c.64154T= (p.Val21385=)
c.54008T= (p.Val18003=)
2g.178551641A>CCA349502574TTN,TTN-AS1c.83555T>G (p.Val27852Gly)
c.64640T>G (p.Val21547Gly)
c.64439T>G (p.Val21480Gly)
c.64064T>G (p.Val21355Gly)
c.91259T>G (p.Val30420Gly)
c.86336T>G (p.Val28779Gly)
n.447-19659A>C
n.2043+9280A>C
c.90356T>G (p.Val30119Gly)
c.64250T>G (p.Val21417Gly)
c.64109T>G (p.Val21370Gly)
c.90152T>G (p.Val30051Gly)
c.85550T>G (p.Val28517Gly)
c.85547T>G (p.Val28516Gly)
c.82589T>G (p.Val27530Gly)
c.64205T>G (p.Val21402Gly)
c.85700T>G (p.Val28567Gly)
c.85697T>G (p.Val28566Gly)
c.85130T>G (p.Val28377Gly)
c.82472T>G (p.Val27491Gly)
c.82391T>G (p.Val27464Gly)
c.64154T>G (p.Val21385Gly)
c.54008T>G (p.Val18003Gly)
2g.178551641A>GCA1987665TTN,TTN-AS1c.83555T>C (p.Val27852Ala)
c.64640T>C (p.Val21547Ala)
c.64439T>C (p.Val21480Ala)
c.64064T>C (p.Val21355Ala)
c.91259T>C (p.Val30420Ala)
c.86336T>C (p.Val28779Ala)
n.447-19659A>G
n.2043+9280A>G
c.90356T>C (p.Val30119Ala)
c.64250T>C (p.Val21417Ala)
c.64109T>C (p.Val21370Ala)
c.90152T>C (p.Val30051Ala)
c.85550T>C (p.Val28517Ala)
c.85547T>C (p.Val28516Ala)
c.82589T>C (p.Val27530Ala)
c.64205T>C (p.Val21402Ala)
c.85700T>C (p.Val28567Ala)
c.85697T>C (p.Val28566Ala)
c.85130T>C (p.Val28377Ala)
c.82472T>C (p.Val27491Ala)
c.82391T>C (p.Val27464Ala)
c.64154T>C (p.Val21385Ala)
c.54008T>C (p.Val18003Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551641A>TCA1987666TTN,TTN-AS1c.83555T>A (p.Val27852Asp)
c.64640T>A (p.Val21547Asp)
c.64439T>A (p.Val21480Asp)
c.64064T>A (p.Val21355Asp)
c.91259T>A (p.Val30420Asp)
c.86336T>A (p.Val28779Asp)
n.447-19659A>T
n.2043+9280A>T
c.90356T>A (p.Val30119Asp)
c.64250T>A (p.Val21417Asp)
c.64109T>A (p.Val21370Asp)
c.90152T>A (p.Val30051Asp)
c.85550T>A (p.Val28517Asp)
c.85547T>A (p.Val28516Asp)
c.82589T>A (p.Val27530Asp)
c.64205T>A (p.Val21402Asp)
c.85700T>A (p.Val28567Asp)
c.85697T>A (p.Val28566Asp)
c.85130T>A (p.Val28377Asp)
c.82472T>A (p.Val27491Asp)
c.82391T>A (p.Val27464Asp)
c.64154T>A (p.Val21385Asp)
c.54008T>A (p.Val18003Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551642C>ACA349502586TTN,TTN-AS1c.83554G>T (p.Val27852Phe)
c.64639G>T (p.Val21547Phe)
c.64438G>T (p.Val21480Phe)
c.64063G>T (p.Val21355Phe)
c.91258G>T (p.Val30420Phe)
c.86335G>T (p.Val28779Phe)
n.447-19658C>A
n.2043+9281C>A
c.90355G>T (p.Val30119Phe)
c.64249G>T (p.Val21417Phe)
c.64108G>T (p.Val21370Phe)
c.90151G>T (p.Val30051Phe)
c.85549G>T (p.Val28517Phe)
c.85546G>T (p.Val28516Phe)
c.82588G>T (p.Val27530Phe)
c.64204G>T (p.Val21402Phe)
c.85699G>T (p.Val28567Phe)
c.85696G>T (p.Val28566Phe)
c.85129G>T (p.Val28377Phe)
c.82471G>T (p.Val27491Phe)
c.82390G>T (p.Val27464Phe)
c.64153G>T (p.Val21385Phe)
c.54007G>T (p.Val18003Phe)
 gnomAD v4
2g.178551642C>GCA349502597TTN,TTN-AS1c.83554G>C (p.Val27852Leu)
c.64639G>C (p.Val21547Leu)
c.64438G>C (p.Val21480Leu)
c.64063G>C (p.Val21355Leu)
c.91258G>C (p.Val30420Leu)
c.86335G>C (p.Val28779Leu)
n.447-19658C>G
n.2043+9281C>G
c.90355G>C (p.Val30119Leu)
c.64249G>C (p.Val21417Leu)
c.64108G>C (p.Val21370Leu)
c.90151G>C (p.Val30051Leu)
c.85549G>C (p.Val28517Leu)
c.85546G>C (p.Val28516Leu)
c.82588G>C (p.Val27530Leu)
c.64204G>C (p.Val21402Leu)
c.85699G>C (p.Val28567Leu)
c.85696G>C (p.Val28566Leu)
c.85129G>C (p.Val28377Leu)
c.82471G>C (p.Val27491Leu)
c.82390G>C (p.Val27464Leu)
c.64153G>C (p.Val21385Leu)
c.54007G>C (p.Val18003Leu)
2g.178551642C>TCA349502598TTN,TTN-AS1c.83554G>A (p.Val27852Ile)
c.64639G>A (p.Val21547Ile)
c.64438G>A (p.Val21480Ile)
c.64063G>A (p.Val21355Ile)
c.91258G>A (p.Val30420Ile)
c.86335G>A (p.Val28779Ile)
n.447-19658C>T
n.2043+9281C>T
c.90355G>A (p.Val30119Ile)
c.64249G>A (p.Val21417Ile)
c.64108G>A (p.Val21370Ile)
c.90151G>A (p.Val30051Ile)
c.85549G>A (p.Val28517Ile)
c.85546G>A (p.Val28516Ile)
c.82588G>A (p.Val27530Ile)
c.64204G>A (p.Val21402Ile)
c.85699G>A (p.Val28567Ile)
c.85696G>A (p.Val28566Ile)
c.85129G>A (p.Val28377Ile)
c.82471G>A (p.Val27491Ile)
c.82390G>A (p.Val27464Ile)
c.64153G>A (p.Val21385Ile)
c.54007G>A (p.Val18003Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178551643delCA2697549255TTN,TTN-AS1c.83553del (p.Val27852PhefsTer4)
c.64638del (p.Val21547PhefsTer4)
c.64437del (p.Val21480PhefsTer4)
c.64062del (p.Val21355PhefsTer4)
c.91257del (p.Val30420PhefsTer4)
c.86334del (p.Val28779PhefsTer4)
n.447-19657del
n.2043+9282del
c.90354del (p.Val30119PhefsTer4)
c.64248del (p.Val21417PhefsTer4)
c.64107del (p.Val21370PhefsTer4)
c.90150del (p.Val30051PhefsTer4)
c.85548del (p.Val28517PhefsTer4)
c.85545del (p.Val28516PhefsTer4)
c.82587del (p.Val27530PhefsTer4)
c.64203del (p.Val21402PhefsTer4)
c.85698del (p.Val28567PhefsTer4)
c.85695del (p.Val28566PhefsTer4)
c.85128del (p.Val28377PhefsTer4)
c.82470del (p.Val27491PhefsTer4)
c.82389del (p.Val27464PhefsTer4)
c.64152del (p.Val21385PhefsTer4)
c.54006del (p.Val18003PhefsTer4)
 ClinVar
2g.178551643A=CA1310521131TTN,TTN-AS1c.83553T= (p.Ala27851=)
c.64638T= (p.Ala21546=)
c.64437T= (p.Ala21479=)
c.64062T= (p.Ala21354=)
c.91257T= (p.Ala30419=)
c.86334T= (p.Ala28778=)
n.447-19657A=
n.2043+9282A=
c.90354T= (p.Ala30118=)
c.64248T= (p.Ala21416=)
c.64107T= (p.Ala21369=)
c.90150T= (p.Ala30050=)
c.85548T= (p.Ala28516=)
c.85545T= (p.Ala28515=)
c.82587T= (p.Ala27529=)
c.64203T= (p.Ala21401=)
c.85698T= (p.Ala28566=)
c.85695T= (p.Ala28565=)
c.85128T= (p.Ala28376=)
c.82470T= (p.Ala27490=)
c.82389T= (p.Ala27463=)
c.64152T= (p.Ala21384=)
c.54006T= (p.Ala18002=)
2g.178551643A>CCA430103999TTN,TTN-AS1c.83553T>G (p.Ala27851=)
c.64638T>G (p.Ala21546=)
c.64437T>G (p.Ala21479=)
c.64062T>G (p.Ala21354=)
c.91257T>G (p.Ala30419=)
c.86334T>G (p.Ala28778=)
n.447-19657A>C
n.2043+9282A>C
c.90354T>G (p.Ala30118=)
c.64248T>G (p.Ala21416=)
c.64107T>G (p.Ala21369=)
c.90150T>G (p.Ala30050=)
c.85548T>G (p.Ala28516=)
c.85545T>G (p.Ala28515=)
c.82587T>G (p.Ala27529=)
c.64203T>G (p.Ala21401=)
c.85698T>G (p.Ala28566=)
c.85695T>G (p.Ala28565=)
c.85128T>G (p.Ala28376=)
c.82470T>G (p.Ala27490=)
c.82389T>G (p.Ala27463=)
c.64152T>G (p.Ala21384=)
c.54006T>G (p.Ala18002=)
2g.178551643A>GCA16603982TTN,TTN-AS1c.83553T>C (p.Ala27851=)
c.64638T>C (p.Ala21546=)
c.64437T>C (p.Ala21479=)
c.64062T>C (p.Ala21354=)
c.91257T>C (p.Ala30419=)
c.86334T>C (p.Ala28778=)
n.447-19657A>G
n.2043+9282A>G
c.90354T>C (p.Ala30118=)
c.64248T>C (p.Ala21416=)
c.64107T>C (p.Ala21369=)
c.90150T>C (p.Ala30050=)
c.85548T>C (p.Ala28516=)
c.85545T>C (p.Ala28515=)
c.82587T>C (p.Ala27529=)
c.64203T>C (p.Ala21401=)
c.85698T>C (p.Ala28566=)
c.85695T>C (p.Ala28565=)
c.85128T>C (p.Ala28376=)
c.82470T>C (p.Ala27490=)
c.82389T>C (p.Ala27463=)
c.64152T>C (p.Ala21384=)
c.54006T>C (p.Ala18002=)
 ClinVar dbSNP
2g.178551643A>TCA430104000TTN,TTN-AS1c.83553T>A (p.Ala27851=)
c.64638T>A (p.Ala21546=)
c.64437T>A (p.Ala21479=)
c.64062T>A (p.Ala21354=)
c.91257T>A (p.Ala30419=)
c.86334T>A (p.Ala28778=)
n.447-19657A>T
n.2043+9282A>T
c.90354T>A (p.Ala30118=)
c.64248T>A (p.Ala21416=)
c.64107T>A (p.Ala21369=)
c.90150T>A (p.Ala30050=)
c.85548T>A (p.Ala28516=)
c.85545T>A (p.Ala28515=)
c.82587T>A (p.Ala27529=)
c.64203T>A (p.Ala21401=)
c.85698T>A (p.Ala28566=)
c.85695T>A (p.Ala28565=)
c.85128T>A (p.Ala28376=)
c.82470T>A (p.Ala27490=)
c.82389T>A (p.Ala27463=)
c.64152T>A (p.Ala21384=)
c.54006T>A (p.Ala18002=)
2g.178551644G>ACA349502607TTN,TTN-AS1c.83552C>T (p.Ala27851Val)
c.64637C>T (p.Ala21546Val)
c.64436C>T (p.Ala21479Val)
c.64061C>T (p.Ala21354Val)
c.91256C>T (p.Ala30419Val)
c.86333C>T (p.Ala28778Val)
n.447-19656G>A
n.2043+9283G>A
c.90353C>T (p.Ala30118Val)
c.64247C>T (p.Ala21416Val)
c.64106C>T (p.Ala21369Val)
c.90149C>T (p.Ala30050Val)
c.85547C>T (p.Ala28516Val)
c.85544C>T (p.Ala28515Val)
c.82586C>T (p.Ala27529Val)
c.64202C>T (p.Ala21401Val)
c.85697C>T (p.Ala28566Val)
c.85694C>T (p.Ala28565Val)
c.85127C>T (p.Ala28376Val)
c.82469C>T (p.Ala27490Val)
c.82388C>T (p.Ala27463Val)
c.64151C>T (p.Ala21384Val)
c.54005C>T (p.Ala18002Val)
 gnomAD v4
2g.178551644G>CCA349502610TTN,TTN-AS1c.83552C>G (p.Ala27851Gly)
c.64637C>G (p.Ala21546Gly)
c.64436C>G (p.Ala21479Gly)
c.64061C>G (p.Ala21354Gly)
c.91256C>G (p.Ala30419Gly)
c.86333C>G (p.Ala28778Gly)
n.447-19656G>C
n.2043+9283G>C
c.90353C>G (p.Ala30118Gly)
c.64247C>G (p.Ala21416Gly)
c.64106C>G (p.Ala21369Gly)
c.90149C>G (p.Ala30050Gly)
c.85547C>G (p.Ala28516Gly)
c.85544C>G (p.Ala28515Gly)
c.82586C>G (p.Ala27529Gly)
c.64202C>G (p.Ala21401Gly)
c.85697C>G (p.Ala28566Gly)
c.85694C>G (p.Ala28565Gly)
c.85127C>G (p.Ala28376Gly)
c.82469C>G (p.Ala27490Gly)
c.82388C>G (p.Ala27463Gly)
c.64151C>G (p.Ala21384Gly)
c.54005C>G (p.Ala18002Gly)
2g.178551644G>TCA349502603TTN,TTN-AS1c.83552C>A (p.Ala27851Asp)
c.64637C>A (p.Ala21546Asp)
c.64436C>A (p.Ala21479Asp)
c.64061C>A (p.Ala21354Asp)
c.91256C>A (p.Ala30419Asp)
c.86333C>A (p.Ala28778Asp)
n.447-19656G>T
n.2043+9283G>T
c.90353C>A (p.Ala30118Asp)
c.64247C>A (p.Ala21416Asp)
c.64106C>A (p.Ala21369Asp)
c.90149C>A (p.Ala30050Asp)
c.85547C>A (p.Ala28516Asp)
c.85544C>A (p.Ala28515Asp)
c.82586C>A (p.Ala27529Asp)
c.64202C>A (p.Ala21401Asp)
c.85697C>A (p.Ala28566Asp)
c.85694C>A (p.Ala28565Asp)
c.85127C>A (p.Ala28376Asp)
c.82469C>A (p.Ala27490Asp)
c.82388C>A (p.Ala27463Asp)
c.64151C>A (p.Ala21384Asp)
c.54005C>A (p.Ala18002Asp)
2g.178551645C>ACA349502617TTN,TTN-AS1c.83551G>T (p.Ala27851Ser)
c.64636G>T (p.Ala21546Ser)
c.64435G>T (p.Ala21479Ser)
c.64060G>T (p.Ala21354Ser)
c.91255G>T (p.Ala30419Ser)
c.86332G>T (p.Ala28778Ser)
n.447-19655C>A
n.2043+9284C>A
c.90352G>T (p.Ala30118Ser)
c.64246G>T (p.Ala21416Ser)
c.64105G>T (p.Ala21369Ser)
c.90148G>T (p.Ala30050Ser)
c.85546G>T (p.Ala28516Ser)
c.85543G>T (p.Ala28515Ser)
c.82585G>T (p.Ala27529Ser)
c.64201G>T (p.Ala21401Ser)
c.85696G>T (p.Ala28566Ser)
c.85693G>T (p.Ala28565Ser)
c.85126G>T (p.Ala28376Ser)
c.82468G>T (p.Ala27490Ser)
c.82387G>T (p.Ala27463Ser)
c.64150G>T (p.Ala21384Ser)
c.54004G>T (p.Ala18002Ser)
2g.178551645C>GCA349502624TTN,TTN-AS1c.83551G>C (p.Ala27851Pro)
c.64636G>C (p.Ala21546Pro)
c.64435G>C (p.Ala21479Pro)
c.64060G>C (p.Ala21354Pro)
c.91255G>C (p.Ala30419Pro)
c.86332G>C (p.Ala28778Pro)
n.447-19655C>G
n.2043+9284C>G
c.90352G>C (p.Ala30118Pro)
c.64246G>C (p.Ala21416Pro)
c.64105G>C (p.Ala21369Pro)
c.90148G>C (p.Ala30050Pro)
c.85546G>C (p.Ala28516Pro)
c.85543G>C (p.Ala28515Pro)
c.82585G>C (p.Ala27529Pro)
c.64201G>C (p.Ala21401Pro)
c.85696G>C (p.Ala28566Pro)
c.85693G>C (p.Ala28565Pro)
c.85126G>C (p.Ala28376Pro)
c.82468G>C (p.Ala27490Pro)
c.82387G>C (p.Ala27463Pro)
c.64150G>C (p.Ala21384Pro)
c.54004G>C (p.Ala18002Pro)
 gnomAD v4
2g.178551645C>TCA349502625TTN,TTN-AS1c.83551G>A (p.Ala27851Thr)
c.64636G>A (p.Ala21546Thr)
c.64435G>A (p.Ala21479Thr)
c.64060G>A (p.Ala21354Thr)
c.91255G>A (p.Ala30419Thr)
c.86332G>A (p.Ala28778Thr)
n.447-19655C>T
n.2043+9284C>T
c.90352G>A (p.Ala30118Thr)
c.64246G>A (p.Ala21416Thr)
c.64105G>A (p.Ala21369Thr)
c.90148G>A (p.Ala30050Thr)
c.85546G>A (p.Ala28516Thr)
c.85543G>A (p.Ala28515Thr)
c.82585G>A (p.Ala27529Thr)
c.64201G>A (p.Ala21401Thr)
c.85696G>A (p.Ala28566Thr)
c.85693G>A (p.Ala28565Thr)
c.85126G>A (p.Ala28376Thr)
c.82468G>A (p.Ala27490Thr)
c.82387G>A (p.Ala27463Thr)
c.64150G>A (p.Ala21384Thr)
c.54004G>A (p.Ala18002Thr)
 gnomAD v4
2g.178551646T>ACA349502628TTN,TTN-AS1c.83550A>T (p.Leu27850Phe)
c.64635A>T (p.Leu21545Phe)
c.64434A>T (p.Leu21478Phe)
c.64059A>T (p.Leu21353Phe)
c.91254A>T (p.Leu30418Phe)
c.86331A>T (p.Leu28777Phe)
n.447-19654T>A
n.2043+9285T>A
c.90351A>T (p.Leu30117Phe)
c.64245A>T (p.Leu21415Phe)
c.64104A>T (p.Leu21368Phe)
c.90147A>T (p.Leu30049Phe)
c.85545A>T (p.Leu28515Phe)
c.85542A>T (p.Leu28514Phe)
c.82584A>T (p.Leu27528Phe)
c.64200A>T (p.Leu21400Phe)
c.85695A>T (p.Leu28565Phe)
c.85692A>T (p.Leu28564Phe)
c.85125A>T (p.Leu28375Phe)
c.82467A>T (p.Leu27489Phe)
c.82386A>T (p.Leu27462Phe)
c.64149A>T (p.Leu21383Phe)
c.54003A>T (p.Leu18001Phe)
 ClinVar
2g.178551646T>CCA430104007TTN,TTN-AS1c.83550A>G (p.Leu27850=)
c.64635A>G (p.Leu21545=)
c.64434A>G (p.Leu21478=)
c.64059A>G (p.Leu21353=)
c.91254A>G (p.Leu30418=)
c.86331A>G (p.Leu28777=)
n.447-19654T>C
n.2043+9285T>C
c.90351A>G (p.Leu30117=)
c.64245A>G (p.Leu21415=)
c.64104A>G (p.Leu21368=)
c.90147A>G (p.Leu30049=)
c.85545A>G (p.Leu28515=)
c.85542A>G (p.Leu28514=)
c.82584A>G (p.Leu27528=)
c.64200A>G (p.Leu21400=)
c.85695A>G (p.Leu28565=)
c.85692A>G (p.Leu28564=)
c.85125A>G (p.Leu28375=)
c.82467A>G (p.Leu27489=)
c.82386A>G (p.Leu27462=)
c.64149A>G (p.Leu21383=)
c.54003A>G (p.Leu18001=)
2g.178551646T>GCA349502629TTN,TTN-AS1c.83550A>C (p.Leu27850Phe)
c.64635A>C (p.Leu21545Phe)
c.64434A>C (p.Leu21478Phe)
c.64059A>C (p.Leu21353Phe)
c.91254A>C (p.Leu30418Phe)
c.86331A>C (p.Leu28777Phe)
n.447-19654T>G
n.2043+9285T>G
c.90351A>C (p.Leu30117Phe)
c.64245A>C (p.Leu21415Phe)
c.64104A>C (p.Leu21368Phe)
c.90147A>C (p.Leu30049Phe)
c.85545A>C (p.Leu28515Phe)
c.85542A>C (p.Leu28514Phe)
c.82584A>C (p.Leu27528Phe)
c.64200A>C (p.Leu21400Phe)
c.85695A>C (p.Leu28565Phe)
c.85692A>C (p.Leu28564Phe)
c.85125A>C (p.Leu28375Phe)
c.82467A>C (p.Leu27489Phe)
c.82386A>C (p.Leu27462Phe)
c.64149A>C (p.Leu21383Phe)
c.54003A>C (p.Leu18001Phe)
2g.178551647A>CCA349502632TTN,TTN-AS1c.83549T>G (p.Leu27850Ter)
c.64634T>G (p.Leu21545Ter)
c.64433T>G (p.Leu21478Ter)
c.64058T>G (p.Leu21353Ter)
c.91253T>G (p.Leu30418Ter)
c.86330T>G (p.Leu28777Ter)
n.447-19653A>C
n.2043+9286A>C
c.90350T>G (p.Leu30117Ter)
c.64244T>G (p.Leu21415Ter)
c.64103T>G (p.Leu21368Ter)
c.90146T>G (p.Leu30049Ter)
c.85544T>G (p.Leu28515Ter)
c.85541T>G (p.Leu28514Ter)
c.82583T>G (p.Leu27528Ter)
c.64199T>G (p.Leu21400Ter)
c.85694T>G (p.Leu28565Ter)
c.85691T>G (p.Leu28564Ter)
c.85124T>G (p.Leu28375Ter)
c.82466T>G (p.Leu27489Ter)
c.82385T>G (p.Leu27462Ter)
c.64148T>G (p.Leu21383Ter)
c.54002T>G (p.Leu18001Ter)
2g.178551647A>GCA349502630TTN,TTN-AS1c.83549T>C (p.Leu27850Ser)
c.64634T>C (p.Leu21545Ser)
c.64433T>C (p.Leu21478Ser)
c.64058T>C (p.Leu21353Ser)
c.91253T>C (p.Leu30418Ser)
c.86330T>C (p.Leu28777Ser)
n.447-19653A>G
n.2043+9286A>G
c.90350T>C (p.Leu30117Ser)
c.64244T>C (p.Leu21415Ser)
c.64103T>C (p.Leu21368Ser)
c.90146T>C (p.Leu30049Ser)
c.85544T>C (p.Leu28515Ser)
c.85541T>C (p.Leu28514Ser)
c.82583T>C (p.Leu27528Ser)
c.64199T>C (p.Leu21400Ser)
c.85694T>C (p.Leu28565Ser)
c.85691T>C (p.Leu28564Ser)
c.85124T>C (p.Leu28375Ser)
c.82466T>C (p.Leu27489Ser)
c.82385T>C (p.Leu27462Ser)
c.64148T>C (p.Leu21383Ser)
c.54002T>C (p.Leu18001Ser)
2g.178551647A>TCA349502631TTN,TTN-AS1c.83549T>A (p.Leu27850Ter)
c.64634T>A (p.Leu21545Ter)
c.64433T>A (p.Leu21478Ter)
c.64058T>A (p.Leu21353Ter)
c.91253T>A (p.Leu30418Ter)
c.86330T>A (p.Leu28777Ter)
n.447-19653A>T
n.2043+9286A>T
c.90350T>A (p.Leu30117Ter)
c.64244T>A (p.Leu21415Ter)
c.64103T>A (p.Leu21368Ter)
c.90146T>A (p.Leu30049Ter)
c.85544T>A (p.Leu28515Ter)
c.85541T>A (p.Leu28514Ter)
c.82583T>A (p.Leu27528Ter)
c.64199T>A (p.Leu21400Ter)
c.85694T>A (p.Leu28565Ter)
c.85691T>A (p.Leu28564Ter)
c.85124T>A (p.Leu28375Ter)
c.82466T>A (p.Leu27489Ter)
c.82385T>A (p.Leu27462Ter)
c.64148T>A (p.Leu21383Ter)
c.54002T>A (p.Leu18001Ter)
2g.178551648A>CCA349502633TTN,TTN-AS1c.83548T>G (p.Leu27850Val)
c.64633T>G (p.Leu21545Val)
c.64432T>G (p.Leu21478Val)
c.64057T>G (p.Leu21353Val)
c.91252T>G (p.Leu30418Val)
c.86329T>G (p.Leu28777Val)
n.447-19652A>C
n.2043+9287A>C
c.90349T>G (p.Leu30117Val)
c.64243T>G (p.Leu21415Val)
c.64102T>G (p.Leu21368Val)
c.90145T>G (p.Leu30049Val)
c.85543T>G (p.Leu28515Val)
c.85540T>G (p.Leu28514Val)
c.82582T>G (p.Leu27528Val)
c.64198T>G (p.Leu21400Val)
c.85693T>G (p.Leu28565Val)
c.85690T>G (p.Leu28564Val)
c.85123T>G (p.Leu28375Val)
c.82465T>G (p.Leu27489Val)
c.82384T>G (p.Leu27462Val)
c.64147T>G (p.Leu21383Val)
c.54001T>G (p.Leu18001Val)
2g.178551648A>GCA430104008TTN,TTN-AS1c.83548T>C (p.Leu27850=)
c.64633T>C (p.Leu21545=)
c.64432T>C (p.Leu21478=)
c.64057T>C (p.Leu21353=)
c.91252T>C (p.Leu30418=)
c.86329T>C (p.Leu28777=)
n.447-19652A>G
n.2043+9287A>G
c.90349T>C (p.Leu30117=)
c.64243T>C (p.Leu21415=)
c.64102T>C (p.Leu21368=)
c.90145T>C (p.Leu30049=)
c.85543T>C (p.Leu28515=)
c.85540T>C (p.Leu28514=)
c.82582T>C (p.Leu27528=)
c.64198T>C (p.Leu21400=)
c.85693T>C (p.Leu28565=)
c.85690T>C (p.Leu28564=)
c.85123T>C (p.Leu28375=)
c.82465T>C (p.Leu27489=)
c.82384T>C (p.Leu27462=)
c.64147T>C (p.Leu21383=)
c.54001T>C (p.Leu18001=)
2g.178551648A>TCA349502635TTN,TTN-AS1c.83548T>A (p.Leu27850Ile)
c.64633T>A (p.Leu21545Ile)
c.64432T>A (p.Leu21478Ile)
c.64057T>A (p.Leu21353Ile)
c.91252T>A (p.Leu30418Ile)
c.86329T>A (p.Leu28777Ile)
n.447-19652A>T
n.2043+9287A>T
c.90349T>A (p.Leu30117Ile)
c.64243T>A (p.Leu21415Ile)
c.64102T>A (p.Leu21368Ile)
c.90145T>A (p.Leu30049Ile)
c.85543T>A (p.Leu28515Ile)
c.85540T>A (p.Leu28514Ile)
c.82582T>A (p.Leu27528Ile)
c.64198T>A (p.Leu21400Ile)
c.85693T>A (p.Leu28565Ile)
c.85690T>A (p.Leu28564Ile)
c.85123T>A (p.Leu28375Ile)
c.82465T>A (p.Leu27489Ile)
c.82384T>A (p.Leu27462Ile)
c.64147T>A (p.Leu21383Ile)
c.54001T>A (p.Leu18001Ile)
2g.178551649G>ACA430104011TTN,TTN-AS1c.83547C>T (p.Thr27849=)
c.64632C>T (p.Thr21544=)
c.64431C>T (p.Thr21477=)
c.64056C>T (p.Thr21352=)
c.91251C>T (p.Thr30417=)
c.86328C>T (p.Thr28776=)
n.447-19651G>A
n.2043+9288G>A
c.90348C>T (p.Thr30116=)
c.64242C>T (p.Thr21414=)
c.64101C>T (p.Thr21367=)
c.90144C>T (p.Thr30048=)
c.85542C>T (p.Thr28514=)
c.85539C>T (p.Thr28513=)
c.82581C>T (p.Thr27527=)
c.64197C>T (p.Thr21399=)
c.85692C>T (p.Thr28564=)
c.85689C>T (p.Thr28563=)
c.85122C>T (p.Thr28374=)
c.82464C>T (p.Thr27488=)
c.82383C>T (p.Thr27461=)
c.64146C>T (p.Thr21382=)
c.54000C>T (p.Thr18000=)
2g.178551649G>CCA430104013TTN,TTN-AS1c.83547C>G (p.Thr27849=)
c.64632C>G (p.Thr21544=)
c.64431C>G (p.Thr21477=)
c.64056C>G (p.Thr21352=)
c.91251C>G (p.Thr30417=)
c.86328C>G (p.Thr28776=)
n.447-19651G>C
n.2043+9288G>C
c.90348C>G (p.Thr30116=)
c.64242C>G (p.Thr21414=)
c.64101C>G (p.Thr21367=)
c.90144C>G (p.Thr30048=)
c.85542C>G (p.Thr28514=)
c.85539C>G (p.Thr28513=)
c.82581C>G (p.Thr27527=)
c.64197C>G (p.Thr21399=)
c.85692C>G (p.Thr28564=)
c.85689C>G (p.Thr28563=)
c.85122C>G (p.Thr28374=)
c.82464C>G (p.Thr27488=)
c.82383C>G (p.Thr27461=)
c.64146C>G (p.Thr21382=)
c.54000C>G (p.Thr18000=)
2g.178551649G>TCA430104014TTN,TTN-AS1c.83547C>A (p.Thr27849=)
c.64632C>A (p.Thr21544=)
c.64431C>A (p.Thr21477=)
c.64056C>A (p.Thr21352=)
c.91251C>A (p.Thr30417=)
c.86328C>A (p.Thr28776=)
n.447-19651G>T
n.2043+9288G>T
c.90348C>A (p.Thr30116=)
c.64242C>A (p.Thr21414=)
c.64101C>A (p.Thr21367=)
c.90144C>A (p.Thr30048=)
c.85542C>A (p.Thr28514=)
c.85539C>A (p.Thr28513=)
c.82581C>A (p.Thr27527=)
c.64197C>A (p.Thr21399=)
c.85692C>A (p.Thr28564=)
c.85689C>A (p.Thr28563=)
c.85122C>A (p.Thr28374=)
c.82464C>A (p.Thr27488=)
c.82383C>A (p.Thr27461=)
c.64146C>A (p.Thr21382=)
c.54000C>A (p.Thr18000=)
2g.178551650G>ACA349502638TTN,TTN-AS1c.83546C>T (p.Thr27849Ile)
c.64631C>T (p.Thr21544Ile)
c.64430C>T (p.Thr21477Ile)
c.64055C>T (p.Thr21352Ile)
c.91250C>T (p.Thr30417Ile)
c.86327C>T (p.Thr28776Ile)
n.447-19650G>A
n.2043+9289G>A
c.90347C>T (p.Thr30116Ile)
c.64241C>T (p.Thr21414Ile)
c.64100C>T (p.Thr21367Ile)
c.90143C>T (p.Thr30048Ile)
c.85541C>T (p.Thr28514Ile)
c.85538C>T (p.Thr28513Ile)
c.82580C>T (p.Thr27527Ile)
c.64196C>T (p.Thr21399Ile)
c.85691C>T (p.Thr28564Ile)
c.85688C>T (p.Thr28563Ile)
c.85121C>T (p.Thr28374Ile)
c.82463C>T (p.Thr27488Ile)
c.82382C>T (p.Thr27461Ile)
c.64145C>T (p.Thr21382Ile)
c.53999C>T (p.Thr18000Ile)
2g.178551650G>CCA349502639TTN,TTN-AS1c.83546C>G (p.Thr27849Ser)
c.64631C>G (p.Thr21544Ser)
c.64430C>G (p.Thr21477Ser)
c.64055C>G (p.Thr21352Ser)
c.91250C>G (p.Thr30417Ser)
c.86327C>G (p.Thr28776Ser)
n.447-19650G>C
n.2043+9289G>C
c.90347C>G (p.Thr30116Ser)
c.64241C>G (p.Thr21414Ser)
c.64100C>G (p.Thr21367Ser)
c.90143C>G (p.Thr30048Ser)
c.85541C>G (p.Thr28514Ser)
c.85538C>G (p.Thr28513Ser)
c.82580C>G (p.Thr27527Ser)
c.64196C>G (p.Thr21399Ser)
c.85691C>G (p.Thr28564Ser)
c.85688C>G (p.Thr28563Ser)
c.85121C>G (p.Thr28374Ser)
c.82463C>G (p.Thr27488Ser)
c.82382C>G (p.Thr27461Ser)
c.64145C>G (p.Thr21382Ser)
c.53999C>G (p.Thr18000Ser)
2g.178551650G>TCA349502640TTN,TTN-AS1c.83546C>A (p.Thr27849Asn)
c.64631C>A (p.Thr21544Asn)
c.64430C>A (p.Thr21477Asn)
c.64055C>A (p.Thr21352Asn)
c.91250C>A (p.Thr30417Asn)
c.86327C>A (p.Thr28776Asn)
n.447-19650G>T
n.2043+9289G>T
c.90347C>A (p.Thr30116Asn)
c.64241C>A (p.Thr21414Asn)
c.64100C>A (p.Thr21367Asn)
c.90143C>A (p.Thr30048Asn)
c.85541C>A (p.Thr28514Asn)
c.85538C>A (p.Thr28513Asn)
c.82580C>A (p.Thr27527Asn)
c.64196C>A (p.Thr21399Asn)
c.85691C>A (p.Thr28564Asn)
c.85688C>A (p.Thr28563Asn)
c.85121C>A (p.Thr28374Asn)
c.82463C>A (p.Thr27488Asn)
c.82382C>A (p.Thr27461Asn)
c.64145C>A (p.Thr21382Asn)
c.53999C>A (p.Thr18000Asn)
2g.178551651T>ACA349502643TTN,TTN-AS1c.83545A>T (p.Thr27849Ser)
c.64630A>T (p.Thr21544Ser)
c.64429A>T (p.Thr21477Ser)
c.64054A>T (p.Thr21352Ser)
c.91249A>T (p.Thr30417Ser)
c.86326A>T (p.Thr28776Ser)
n.447-19649T>A
n.2043+9290T>A
c.90346A>T (p.Thr30116Ser)
c.64240A>T (p.Thr21414Ser)
c.64099A>T (p.Thr21367Ser)
c.90142A>T (p.Thr30048Ser)
c.85540A>T (p.Thr28514Ser)
c.85537A>T (p.Thr28513Ser)
c.82579A>T (p.Thr27527Ser)
c.64195A>T (p.Thr21399Ser)
c.85690A>T (p.Thr28564Ser)
c.85687A>T (p.Thr28563Ser)
c.85120A>T (p.Thr28374Ser)
c.82462A>T (p.Thr27488Ser)
c.82381A>T (p.Thr27461Ser)
c.64144A>T (p.Thr21382Ser)
c.53998A>T (p.Thr18000Ser)
2g.178551651T>CCA349502642TTN,TTN-AS1c.83545A>G (p.Thr27849Ala)
c.64630A>G (p.Thr21544Ala)
c.64429A>G (p.Thr21477Ala)
c.64054A>G (p.Thr21352Ala)
c.91249A>G (p.Thr30417Ala)
c.86326A>G (p.Thr28776Ala)
n.447-19649T>C
n.2043+9290T>C
c.90346A>G (p.Thr30116Ala)
c.64240A>G (p.Thr21414Ala)
c.64099A>G (p.Thr21367Ala)
c.90142A>G (p.Thr30048Ala)
c.85540A>G (p.Thr28514Ala)
c.85537A>G (p.Thr28513Ala)
c.82579A>G (p.Thr27527Ala)
c.64195A>G (p.Thr21399Ala)
c.85690A>G (p.Thr28564Ala)
c.85687A>G (p.Thr28563Ala)
c.85120A>G (p.Thr28374Ala)
c.82462A>G (p.Thr27488Ala)
c.82381A>G (p.Thr27461Ala)
c.64144A>G (p.Thr21382Ala)
c.53998A>G (p.Thr18000Ala)
2g.178551651T>GCA349502641TTN,TTN-AS1c.83545A>C (p.Thr27849Pro)
c.64630A>C (p.Thr21544Pro)
c.64429A>C (p.Thr21477Pro)
c.64054A>C (p.Thr21352Pro)
c.91249A>C (p.Thr30417Pro)
c.86326A>C (p.Thr28776Pro)
n.447-19649T>G
n.2043+9290T>G
c.90346A>C (p.Thr30116Pro)
c.64240A>C (p.Thr21414Pro)
c.64099A>C (p.Thr21367Pro)
c.90142A>C (p.Thr30048Pro)
c.85540A>C (p.Thr28514Pro)
c.85537A>C (p.Thr28513Pro)
c.82579A>C (p.Thr27527Pro)
c.64195A>C (p.Thr21399Pro)
c.85690A>C (p.Thr28564Pro)
c.85687A>C (p.Thr28563Pro)
c.85120A>C (p.Thr28374Pro)
c.82462A>C (p.Thr27488Pro)
c.82381A>C (p.Thr27461Pro)
c.64144A>C (p.Thr21382Pro)
c.53998A>C (p.Thr18000Pro)
2g.178551652A>CCA349502645TTN,TTN-AS1c.83544T>G (p.Phe27848Leu)
c.64629T>G (p.Phe21543Leu)
c.64428T>G (p.Phe21476Leu)
c.64053T>G (p.Phe21351Leu)
c.91248T>G (p.Phe30416Leu)
c.86325T>G (p.Phe28775Leu)
n.447-19648A>C
n.2043+9291A>C
c.90345T>G (p.Phe30115Leu)
c.64239T>G (p.Phe21413Leu)
c.64098T>G (p.Phe21366Leu)
c.90141T>G (p.Phe30047Leu)
c.85539T>G (p.Phe28513Leu)
c.85536T>G (p.Phe28512Leu)
c.82578T>G (p.Phe27526Leu)
c.64194T>G (p.Phe21398Leu)
c.85689T>G (p.Phe28563Leu)
c.85686T>G (p.Phe28562Leu)
c.85119T>G (p.Phe28373Leu)
c.82461T>G (p.Phe27487Leu)
c.82380T>G (p.Phe27460Leu)
c.64143T>G (p.Phe21381Leu)
c.53997T>G (p.Phe17999Leu)
2g.178551652A>GCA430104019TTN,TTN-AS1c.83544T>C (p.Phe27848=)
c.64629T>C (p.Phe21543=)
c.64428T>C (p.Phe21476=)
c.64053T>C (p.Phe21351=)
c.91248T>C (p.Phe30416=)
c.86325T>C (p.Phe28775=)
n.447-19648A>G
n.2043+9291A>G
c.90345T>C (p.Phe30115=)
c.64239T>C (p.Phe21413=)
c.64098T>C (p.Phe21366=)
c.90141T>C (p.Phe30047=)
c.85539T>C (p.Phe28513=)
c.85536T>C (p.Phe28512=)
c.82578T>C (p.Phe27526=)
c.64194T>C (p.Phe21398=)
c.85689T>C (p.Phe28563=)
c.85686T>C (p.Phe28562=)
c.85119T>C (p.Phe28373=)
c.82461T>C (p.Phe27487=)
c.82380T>C (p.Phe27460=)
c.64143T>C (p.Phe21381=)
c.53997T>C (p.Phe17999=)
2g.178551652A>TCA349502647TTN,TTN-AS1c.83544T>A (p.Phe27848Leu)
c.64629T>A (p.Phe21543Leu)
c.64428T>A (p.Phe21476Leu)
c.64053T>A (p.Phe21351Leu)
c.91248T>A (p.Phe30416Leu)
c.86325T>A (p.Phe28775Leu)
n.447-19648A>T
n.2043+9291A>T
c.90345T>A (p.Phe30115Leu)
c.64239T>A (p.Phe21413Leu)
c.64098T>A (p.Phe21366Leu)
c.90141T>A (p.Phe30047Leu)
c.85539T>A (p.Phe28513Leu)
c.85536T>A (p.Phe28512Leu)
c.82578T>A (p.Phe27526Leu)
c.64194T>A (p.Phe21398Leu)
c.85689T>A (p.Phe28563Leu)
c.85686T>A (p.Phe28562Leu)
c.85119T>A (p.Phe28373Leu)
c.82461T>A (p.Phe27487Leu)
c.82380T>A (p.Phe27460Leu)
c.64143T>A (p.Phe21381Leu)
c.53997T>A (p.Phe17999Leu)
2g.178551653A>CCA349502648TTN,TTN-AS1c.83543T>G (p.Phe27848Cys)
c.64628T>G (p.Phe21543Cys)
c.64427T>G (p.Phe21476Cys)
c.64052T>G (p.Phe21351Cys)
c.91247T>G (p.Phe30416Cys)
c.86324T>G (p.Phe28775Cys)
n.447-19647A>C
n.2043+9292A>C
c.90344T>G (p.Phe30115Cys)
c.64238T>G (p.Phe21413Cys)
c.64097T>G (p.Phe21366Cys)
c.90140T>G (p.Phe30047Cys)
c.85538T>G (p.Phe28513Cys)
c.85535T>G (p.Phe28512Cys)
c.82577T>G (p.Phe27526Cys)
c.64193T>G (p.Phe21398Cys)
c.85688T>G (p.Phe28563Cys)
c.85685T>G (p.Phe28562Cys)
c.85118T>G (p.Phe28373Cys)
c.82460T>G (p.Phe27487Cys)
c.82379T>G (p.Phe27460Cys)
c.64142T>G (p.Phe21381Cys)
c.53996T>G (p.Phe17999Cys)
2g.178551653A>GCA349502657TTN,TTN-AS1c.83543T>C (p.Phe27848Ser)
c.64628T>C (p.Phe21543Ser)
c.64427T>C (p.Phe21476Ser)
c.64052T>C (p.Phe21351Ser)
c.91247T>C (p.Phe30416Ser)
c.86324T>C (p.Phe28775Ser)
n.447-19647A>G
n.2043+9292A>G
c.90344T>C (p.Phe30115Ser)
c.64238T>C (p.Phe21413Ser)
c.64097T>C (p.Phe21366Ser)
c.90140T>C (p.Phe30047Ser)
c.85538T>C (p.Phe28513Ser)
c.85535T>C (p.Phe28512Ser)
c.82577T>C (p.Phe27526Ser)
c.64193T>C (p.Phe21398Ser)
c.85688T>C (p.Phe28563Ser)
c.85685T>C (p.Phe28562Ser)
c.85118T>C (p.Phe28373Ser)
c.82460T>C (p.Phe27487Ser)
c.82379T>C (p.Phe27460Ser)
c.64142T>C (p.Phe21381Ser)
c.53996T>C (p.Phe17999Ser)
2g.178551653A>TCA349502655TTN,TTN-AS1c.83543T>A (p.Phe27848Tyr)
c.64628T>A (p.Phe21543Tyr)
c.64427T>A (p.Phe21476Tyr)
c.64052T>A (p.Phe21351Tyr)
c.91247T>A (p.Phe30416Tyr)
c.86324T>A (p.Phe28775Tyr)
n.447-19647A>T
n.2043+9292A>T
c.90344T>A (p.Phe30115Tyr)
c.64238T>A (p.Phe21413Tyr)
c.64097T>A (p.Phe21366Tyr)
c.90140T>A (p.Phe30047Tyr)
c.85538T>A (p.Phe28513Tyr)
c.85535T>A (p.Phe28512Tyr)
c.82577T>A (p.Phe27526Tyr)
c.64193T>A (p.Phe21398Tyr)
c.85688T>A (p.Phe28563Tyr)
c.85685T>A (p.Phe28562Tyr)
c.85118T>A (p.Phe28373Tyr)
c.82460T>A (p.Phe27487Tyr)
c.82379T>A (p.Phe27460Tyr)
c.64142T>A (p.Phe21381Tyr)
c.53996T>A (p.Phe17999Tyr)
2g.178551654A>CCA349502660TTN,TTN-AS1c.83542T>G (p.Phe27848Val)
c.64627T>G (p.Phe21543Val)
c.64426T>G (p.Phe21476Val)
c.64051T>G (p.Phe21351Val)
c.91246T>G (p.Phe30416Val)
c.86323T>G (p.Phe28775Val)
n.447-19646A>C
n.2043+9293A>C
c.90343T>G (p.Phe30115Val)
c.64237T>G (p.Phe21413Val)
c.64096T>G (p.Phe21366Val)
c.90139T>G (p.Phe30047Val)
c.85537T>G (p.Phe28513Val)
c.85534T>G (p.Phe28512Val)
c.82576T>G (p.Phe27526Val)
c.64192T>G (p.Phe21398Val)
c.85687T>G (p.Phe28563Val)
c.85684T>G (p.Phe28562Val)
c.85117T>G (p.Phe28373Val)
c.82459T>G (p.Phe27487Val)
c.82378T>G (p.Phe27460Val)
c.64141T>G (p.Phe21381Val)
c.53995T>G (p.Phe17999Val)
2g.178551654A>GCA349502669TTN,TTN-AS1c.83542T>C (p.Phe27848Leu)
c.64627T>C (p.Phe21543Leu)
c.64426T>C (p.Phe21476Leu)
c.64051T>C (p.Phe21351Leu)
c.91246T>C (p.Phe30416Leu)
c.86323T>C (p.Phe28775Leu)
n.447-19646A>G
n.2043+9293A>G
c.90343T>C (p.Phe30115Leu)
c.64237T>C (p.Phe21413Leu)
c.64096T>C (p.Phe21366Leu)
c.90139T>C (p.Phe30047Leu)
c.85537T>C (p.Phe28513Leu)
c.85534T>C (p.Phe28512Leu)
c.82576T>C (p.Phe27526Leu)
c.64192T>C (p.Phe21398Leu)
c.85687T>C (p.Phe28563Leu)
c.85684T>C (p.Phe28562Leu)
c.85117T>C (p.Phe28373Leu)
c.82459T>C (p.Phe27487Leu)
c.82378T>C (p.Phe27460Leu)
c.64141T>C (p.Phe21381Leu)
c.53995T>C (p.Phe17999Leu)
2g.178551654A>TCA349502672TTN,TTN-AS1c.83542T>A (p.Phe27848Ile)
c.64627T>A (p.Phe21543Ile)
c.64426T>A (p.Phe21476Ile)
c.64051T>A (p.Phe21351Ile)
c.91246T>A (p.Phe30416Ile)
c.86323T>A (p.Phe28775Ile)
n.447-19646A>T
n.2043+9293A>T
c.90343T>A (p.Phe30115Ile)
c.64237T>A (p.Phe21413Ile)
c.64096T>A (p.Phe21366Ile)
c.90139T>A (p.Phe30047Ile)
c.85537T>A (p.Phe28513Ile)
c.85534T>A (p.Phe28512Ile)
c.82576T>A (p.Phe27526Ile)
c.64192T>A (p.Phe21398Ile)
c.85687T>A (p.Phe28563Ile)
c.85684T>A (p.Phe28562Ile)
c.85117T>A (p.Phe28373Ile)
c.82459T>A (p.Phe27487Ile)
c.82378T>A (p.Phe27460Ile)
c.64141T>A (p.Phe21381Ile)
c.53995T>A (p.Phe17999Ile)
2g.178551655T>ACA349502674TTN,TTN-AS1c.83541A>T (p.Lys27847Asn)
c.64626A>T (p.Lys21542Asn)
c.64425A>T (p.Lys21475Asn)
c.64050A>T (p.Lys21350Asn)
c.91245A>T (p.Lys30415Asn)
c.86322A>T (p.Lys28774Asn)
n.447-19645T>A
n.2043+9294T>A
c.90342A>T (p.Lys30114Asn)
c.64236A>T (p.Lys21412Asn)
c.64095A>T (p.Lys21365Asn)
c.90138A>T (p.Lys30046Asn)
c.85536A>T (p.Lys28512Asn)
c.85533A>T (p.Lys28511Asn)
c.82575A>T (p.Lys27525Asn)
c.64191A>T (p.Lys21397Asn)
c.85686A>T (p.Lys28562Asn)
c.85683A>T (p.Lys28561Asn)
c.85116A>T (p.Lys28372Asn)
c.82458A>T (p.Lys27486Asn)
c.82377A>T (p.Lys27459Asn)
c.64140A>T (p.Lys21380Asn)
c.53994A>T (p.Lys17998Asn)
2g.178551655T>CCA430104024TTN,TTN-AS1c.83541A>G (p.Lys27847=)
c.64626A>G (p.Lys21542=)
c.64425A>G (p.Lys21475=)
c.64050A>G (p.Lys21350=)
c.91245A>G (p.Lys30415=)
c.86322A>G (p.Lys28774=)
n.447-19645T>C
n.2043+9294T>C
c.90342A>G (p.Lys30114=)
c.64236A>G (p.Lys21412=)
c.64095A>G (p.Lys21365=)
c.90138A>G (p.Lys30046=)
c.85536A>G (p.Lys28512=)
c.85533A>G (p.Lys28511=)
c.82575A>G (p.Lys27525=)
c.64191A>G (p.Lys21397=)
c.85686A>G (p.Lys28562=)
c.85683A>G (p.Lys28561=)
c.85116A>G (p.Lys28372=)
c.82458A>G (p.Lys27486=)
c.82377A>G (p.Lys27459=)
c.64140A>G (p.Lys21380=)
c.53994A>G (p.Lys17998=)
 ClinVar gnomAD v4
2g.178551655T>GCA349502677TTN,TTN-AS1c.83541A>C (p.Lys27847Asn)
c.64626A>C (p.Lys21542Asn)
c.64425A>C (p.Lys21475Asn)
c.64050A>C (p.Lys21350Asn)
c.91245A>C (p.Lys30415Asn)
c.86322A>C (p.Lys28774Asn)
n.447-19645T>G
n.2043+9294T>G
c.90342A>C (p.Lys30114Asn)
c.64236A>C (p.Lys21412Asn)
c.64095A>C (p.Lys21365Asn)
c.90138A>C (p.Lys30046Asn)
c.85536A>C (p.Lys28512Asn)
c.85533A>C (p.Lys28511Asn)
c.82575A>C (p.Lys27525Asn)
c.64191A>C (p.Lys21397Asn)
c.85686A>C (p.Lys28562Asn)
c.85683A>C (p.Lys28561Asn)
c.85116A>C (p.Lys28372Asn)
c.82458A>C (p.Lys27486Asn)
c.82377A>C (p.Lys27459Asn)
c.64140A>C (p.Lys21380Asn)
c.53994A>C (p.Lys17998Asn)
 gnomAD v4
2g.178551656T>ACA349502678TTN,TTN-AS1c.83540A>T (p.Lys27847Ile)
c.64625A>T (p.Lys21542Ile)
c.64424A>T (p.Lys21475Ile)
c.64049A>T (p.Lys21350Ile)
c.91244A>T (p.Lys30415Ile)
c.86321A>T (p.Lys28774Ile)
n.447-19644T>A
n.2043+9295T>A
c.90341A>T (p.Lys30114Ile)
c.64235A>T (p.Lys21412Ile)
c.64094A>T (p.Lys21365Ile)
c.90137A>T (p.Lys30046Ile)
c.85535A>T (p.Lys28512Ile)
c.85532A>T (p.Lys28511Ile)
c.82574A>T (p.Lys27525Ile)
c.64190A>T (p.Lys21397Ile)
c.85685A>T (p.Lys28562Ile)
c.85682A>T (p.Lys28561Ile)
c.85115A>T (p.Lys28372Ile)
c.82457A>T (p.Lys27486Ile)
c.82376A>T (p.Lys27459Ile)
c.64139A>T (p.Lys21380Ile)
c.53993A>T (p.Lys17998Ile)
2g.178551656T>CCA349502680TTN,TTN-AS1c.83540A>G (p.Lys27847Arg)
c.64625A>G (p.Lys21542Arg)
c.64424A>G (p.Lys21475Arg)
c.64049A>G (p.Lys21350Arg)
c.91244A>G (p.Lys30415Arg)
c.86321A>G (p.Lys28774Arg)
n.447-19644T>C
n.2043+9295T>C
c.90341A>G (p.Lys30114Arg)
c.64235A>G (p.Lys21412Arg)
c.64094A>G (p.Lys21365Arg)
c.90137A>G (p.Lys30046Arg)
c.85535A>G (p.Lys28512Arg)
c.85532A>G (p.Lys28511Arg)
c.82574A>G (p.Lys27525Arg)
c.64190A>G (p.Lys21397Arg)
c.85685A>G (p.Lys28562Arg)
c.85682A>G (p.Lys28561Arg)
c.85115A>G (p.Lys28372Arg)
c.82457A>G (p.Lys27486Arg)
c.82376A>G (p.Lys27459Arg)
c.64139A>G (p.Lys21380Arg)
c.53993A>G (p.Lys17998Arg)
2g.178551656T>GCA349502681TTN,TTN-AS1c.83540A>C (p.Lys27847Thr)
c.64625A>C (p.Lys21542Thr)
c.64424A>C (p.Lys21475Thr)
c.64049A>C (p.Lys21350Thr)
c.91244A>C (p.Lys30415Thr)
c.86321A>C (p.Lys28774Thr)
n.447-19644T>G
n.2043+9295T>G
c.90341A>C (p.Lys30114Thr)
c.64235A>C (p.Lys21412Thr)
c.64094A>C (p.Lys21365Thr)
c.90137A>C (p.Lys30046Thr)
c.85535A>C (p.Lys28512Thr)
c.85532A>C (p.Lys28511Thr)
c.82574A>C (p.Lys27525Thr)
c.64190A>C (p.Lys21397Thr)
c.85685A>C (p.Lys28562Thr)
c.85682A>C (p.Lys28561Thr)
c.85115A>C (p.Lys28372Thr)
c.82457A>C (p.Lys27486Thr)
c.82376A>C (p.Lys27459Thr)
c.64139A>C (p.Lys21380Thr)
c.53993A>C (p.Lys17998Thr)
2g.178551657T>ACA349502684TTN,TTN-AS1c.83539A>T (p.Lys27847Ter)
c.64624A>T (p.Lys21542Ter)
c.64423A>T (p.Lys21475Ter)
c.64048A>T (p.Lys21350Ter)
c.91243A>T (p.Lys30415Ter)
c.86320A>T (p.Lys28774Ter)
n.447-19643T>A
n.2043+9296T>A
c.90340A>T (p.Lys30114Ter)
c.64234A>T (p.Lys21412Ter)
c.64093A>T (p.Lys21365Ter)
c.90136A>T (p.Lys30046Ter)
c.85534A>T (p.Lys28512Ter)
c.85531A>T (p.Lys28511Ter)
c.82573A>T (p.Lys27525Ter)
c.64189A>T (p.Lys21397Ter)
c.85684A>T (p.Lys28562Ter)
c.85681A>T (p.Lys28561Ter)
c.85114A>T (p.Lys28372Ter)
c.82456A>T (p.Lys27486Ter)
c.82375A>T (p.Lys27459Ter)
c.64138A>T (p.Lys21380Ter)
c.53992A>T (p.Lys17998Ter)
2g.178551657T>CCA349502686TTN,TTN-AS1c.83539A>G (p.Lys27847Glu)
c.64624A>G (p.Lys21542Glu)
c.64423A>G (p.Lys21475Glu)
c.64048A>G (p.Lys21350Glu)
c.91243A>G (p.Lys30415Glu)
c.86320A>G (p.Lys28774Glu)
n.447-19643T>C
n.2043+9296T>C
c.90340A>G (p.Lys30114Glu)
c.64234A>G (p.Lys21412Glu)
c.64093A>G (p.Lys21365Glu)
c.90136A>G (p.Lys30046Glu)
c.85534A>G (p.Lys28512Glu)
c.85531A>G (p.Lys28511Glu)
c.82573A>G (p.Lys27525Glu)
c.64189A>G (p.Lys21397Glu)
c.85684A>G (p.Lys28562Glu)
c.85681A>G (p.Lys28561Glu)
c.85114A>G (p.Lys28372Glu)
c.82456A>G (p.Lys27486Glu)
c.82375A>G (p.Lys27459Glu)
c.64138A>G (p.Lys21380Glu)
c.53992A>G (p.Lys17998Glu)
2g.178551657T>GCA349502689TTN,TTN-AS1c.83539A>C (p.Lys27847Gln)
c.64624A>C (p.Lys21542Gln)
c.64423A>C (p.Lys21475Gln)
c.64048A>C (p.Lys21350Gln)
c.91243A>C (p.Lys30415Gln)
c.86320A>C (p.Lys28774Gln)
n.447-19643T>G
n.2043+9296T>G
c.90340A>C (p.Lys30114Gln)
c.64234A>C (p.Lys21412Gln)
c.64093A>C (p.Lys21365Gln)
c.90136A>C (p.Lys30046Gln)
c.85534A>C (p.Lys28512Gln)
c.85531A>C (p.Lys28511Gln)
c.82573A>C (p.Lys27525Gln)
c.64189A>C (p.Lys21397Gln)
c.85684A>C (p.Lys28562Gln)
c.85681A>C (p.Lys28561Gln)
c.85114A>C (p.Lys28372Gln)
c.82456A>C (p.Lys27486Gln)
c.82375A>C (p.Lys27459Gln)
c.64138A>C (p.Lys21380Gln)
c.53992A>C (p.Lys17998Gln)
2g.178551658G>ACA430104027TTN,TTN-AS1c.83538C>T (p.Ser27846=)
c.64623C>T (p.Ser21541=)
c.64422C>T (p.Ser21474=)
c.64047C>T (p.Ser21349=)
c.91242C>T (p.Ser30414=)
c.86319C>T (p.Ser28773=)
n.447-19642G>A
n.2043+9297G>A
c.90339C>T (p.Ser30113=)
c.64233C>T (p.Ser21411=)
c.64092C>T (p.Ser21364=)
c.90135C>T (p.Ser30045=)
c.85533C>T (p.Ser28511=)
c.85530C>T (p.Ser28510=)
c.82572C>T (p.Ser27524=)
c.64188C>T (p.Ser21396=)
c.85683C>T (p.Ser28561=)
c.85680C>T (p.Ser28560=)
c.85113C>T (p.Ser28371=)
c.82455C>T (p.Ser27485=)
c.82374C>T (p.Ser27458=)
c.64137C>T (p.Ser21379=)
c.53991C>T (p.Ser17997=)
 gnomAD v4
2g.178551658G>CCA349502705TTN,TTN-AS1c.83538C>G (p.Ser27846Arg)
c.64623C>G (p.Ser21541Arg)
c.64422C>G (p.Ser21474Arg)
c.64047C>G (p.Ser21349Arg)
c.91242C>G (p.Ser30414Arg)
c.86319C>G (p.Ser28773Arg)
n.447-19642G>C
n.2043+9297G>C
c.90339C>G (p.Ser30113Arg)
c.64233C>G (p.Ser21411Arg)
c.64092C>G (p.Ser21364Arg)
c.90135C>G (p.Ser30045Arg)
c.85533C>G (p.Ser28511Arg)
c.85530C>G (p.Ser28510Arg)
c.82572C>G (p.Ser27524Arg)
c.64188C>G (p.Ser21396Arg)
c.85683C>G (p.Ser28561Arg)
c.85680C>G (p.Ser28560Arg)
c.85113C>G (p.Ser28371Arg)
c.82455C>G (p.Ser27485Arg)
c.82374C>G (p.Ser27458Arg)
c.64137C>G (p.Ser21379Arg)
c.53991C>G (p.Ser17997Arg)
2g.178551658G>TCA349502692TTN,TTN-AS1c.83538C>A (p.Ser27846Arg)
c.64623C>A (p.Ser21541Arg)
c.64422C>A (p.Ser21474Arg)
c.64047C>A (p.Ser21349Arg)
c.91242C>A (p.Ser30414Arg)
c.86319C>A (p.Ser28773Arg)
n.447-19642G>T
n.2043+9297G>T
c.90339C>A (p.Ser30113Arg)
c.64233C>A (p.Ser21411Arg)
c.64092C>A (p.Ser21364Arg)
c.90135C>A (p.Ser30045Arg)
c.85533C>A (p.Ser28511Arg)
c.85530C>A (p.Ser28510Arg)
c.82572C>A (p.Ser27524Arg)
c.64188C>A (p.Ser21396Arg)
c.85683C>A (p.Ser28561Arg)
c.85680C>A (p.Ser28560Arg)
c.85113C>A (p.Ser28371Arg)
c.82455C>A (p.Ser27485Arg)
c.82374C>A (p.Ser27458Arg)
c.64137C>A (p.Ser21379Arg)
c.53991C>A (p.Ser17997Arg)
2g.178551659C>ACA349502709TTN,TTN-AS1c.83537G>T (p.Ser27846Ile)
c.64622G>T (p.Ser21541Ile)
c.64421G>T (p.Ser21474Ile)
c.64046G>T (p.Ser21349Ile)
c.91241G>T (p.Ser30414Ile)
c.86318G>T (p.Ser28773Ile)
n.447-19641C>A
n.2043+9298C>A
c.90338G>T (p.Ser30113Ile)
c.64232G>T (p.Ser21411Ile)
c.64091G>T (p.Ser21364Ile)
c.90134G>T (p.Ser30045Ile)
c.85532G>T (p.Ser28511Ile)
c.85529G>T (p.Ser28510Ile)
c.82571G>T (p.Ser27524Ile)
c.64187G>T (p.Ser21396Ile)
c.85682G>T (p.Ser28561Ile)
c.85679G>T (p.Ser28560Ile)
c.85112G>T (p.Ser28371Ile)
c.82454G>T (p.Ser27485Ile)
c.82373G>T (p.Ser27458Ile)
c.64136G>T (p.Ser21379Ile)
c.53990G>T (p.Ser17997Ile)
2g.178551659C=CA1310521133TTN,TTN-AS1c.83537G= (p.Ser27846=)
c.64622G= (p.Ser21541=)
c.64421G= (p.Ser21474=)
c.64046G= (p.Ser21349=)
c.91241G= (p.Ser30414=)
c.86318G= (p.Ser28773=)
n.447-19641C=
n.2043+9298C=
c.90338G= (p.Ser30113=)
c.64232G= (p.Ser21411=)
c.64091G= (p.Ser21364=)
c.90134G= (p.Ser30045=)
c.85532G= (p.Ser28511=)
c.85529G= (p.Ser28510=)
c.82571G= (p.Ser27524=)
c.64187G= (p.Ser21396=)
c.85682G= (p.Ser28561=)
c.85679G= (p.Ser28560=)
c.85112G= (p.Ser28371=)
c.82454G= (p.Ser27485=)
c.82373G= (p.Ser27458=)
c.64136G= (p.Ser21379=)
c.53990G= (p.Ser17997=)
2g.178551659C>GCA349502714TTN,TTN-AS1c.83537G>C (p.Ser27846Thr)
c.64622G>C (p.Ser21541Thr)
c.64421G>C (p.Ser21474Thr)
c.64046G>C (p.Ser21349Thr)
c.91241G>C (p.Ser30414Thr)
c.86318G>C (p.Ser28773Thr)
n.447-19641C>G
n.2043+9298C>G
c.90338G>C (p.Ser30113Thr)
c.64232G>C (p.Ser21411Thr)
c.64091G>C (p.Ser21364Thr)
c.90134G>C (p.Ser30045Thr)
c.85532G>C (p.Ser28511Thr)
c.85529G>C (p.Ser28510Thr)
c.82571G>C (p.Ser27524Thr)
c.64187G>C (p.Ser21396Thr)
c.85682G>C (p.Ser28561Thr)
c.85679G>C (p.Ser28560Thr)
c.85112G>C (p.Ser28371Thr)
c.82454G>C (p.Ser27485Thr)
c.82373G>C (p.Ser27458Thr)
c.64136G>C (p.Ser21379Thr)
c.53990G>C (p.Ser17997Thr)
 gnomAD v4
2g.178551659C>TCA349502718TTN,TTN-AS1c.83537G>A (p.Ser27846Asn)
c.64622G>A (p.Ser21541Asn)
c.64421G>A (p.Ser21474Asn)
c.64046G>A (p.Ser21349Asn)
c.91241G>A (p.Ser30414Asn)
c.86318G>A (p.Ser28773Asn)
n.447-19641C>T
n.2043+9298C>T
c.90338G>A (p.Ser30113Asn)
c.64232G>A (p.Ser21411Asn)
c.64091G>A (p.Ser21364Asn)
c.90134G>A (p.Ser30045Asn)
c.85532G>A (p.Ser28511Asn)
c.85529G>A (p.Ser28510Asn)
c.82571G>A (p.Ser27524Asn)
c.64187G>A (p.Ser21396Asn)
c.85682G>A (p.Ser28561Asn)
c.85679G>A (p.Ser28560Asn)
c.85112G>A (p.Ser28371Asn)
c.82454G>A (p.Ser27485Asn)
c.82373G>A (p.Ser27458Asn)
c.64136G>A (p.Ser21379Asn)
c.53990G>A (p.Ser17997Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178551660T>ACA1987667TTN,TTN-AS1c.83536A>T (p.Ser27846Cys)
c.64621A>T (p.Ser21541Cys)
c.64420A>T (p.Ser21474Cys)
c.64045A>T (p.Ser21349Cys)
c.91240A>T (p.Ser30414Cys)
c.86317A>T (p.Ser28773Cys)
n.447-19640T>A
n.2043+9299T>A
c.90337A>T (p.Ser30113Cys)
c.64231A>T (p.Ser21411Cys)
c.64090A>T (p.Ser21364Cys)
c.90133A>T (p.Ser30045Cys)
c.85531A>T (p.Ser28511Cys)
c.85528A>T (p.Ser28510Cys)
c.82570A>T (p.Ser27524Cys)
c.64186A>T (p.Ser21396Cys)
c.85681A>T (p.Ser28561Cys)
c.85678A>T (p.Ser28560Cys)
c.85111A>T (p.Ser28371Cys)
c.82453A>T (p.Ser27485Cys)
c.82372A>T (p.Ser27458Cys)
c.64135A>T (p.Ser21379Cys)
c.53989A>T (p.Ser17997Cys)
 dbSNP ExAC
2g.178551660T>CCA349502732TTN,TTN-AS1c.83536A>G (p.Ser27846Gly)
c.64621A>G (p.Ser21541Gly)
c.64420A>G (p.Ser21474Gly)
c.64045A>G (p.Ser21349Gly)
c.91240A>G (p.Ser30414Gly)
c.86317A>G (p.Ser28773Gly)
n.447-19640T>C
n.2043+9299T>C
c.90337A>G (p.Ser30113Gly)
c.64231A>G (p.Ser21411Gly)
c.64090A>G (p.Ser21364Gly)
c.90133A>G (p.Ser30045Gly)
c.85531A>G (p.Ser28511Gly)
c.85528A>G (p.Ser28510Gly)
c.82570A>G (p.Ser27524Gly)
c.64186A>G (p.Ser21396Gly)
c.85681A>G (p.Ser28561Gly)
c.85678A>G (p.Ser28560Gly)
c.85111A>G (p.Ser28371Gly)
c.82453A>G (p.Ser27485Gly)
c.82372A>G (p.Ser27458Gly)
c.64135A>G (p.Ser21379Gly)
c.53989A>G (p.Ser17997Gly)
2g.178551660T>GCA349502736TTN,TTN-AS1c.83536A>C (p.Ser27846Arg)
c.64621A>C (p.Ser21541Arg)
c.64420A>C (p.Ser21474Arg)
c.64045A>C (p.Ser21349Arg)
c.91240A>C (p.Ser30414Arg)
c.86317A>C (p.Ser28773Arg)
n.447-19640T>G
n.2043+9299T>G
c.90337A>C (p.Ser30113Arg)
c.64231A>C (p.Ser21411Arg)
c.64090A>C (p.Ser21364Arg)
c.90133A>C (p.Ser30045Arg)
c.85531A>C (p.Ser28511Arg)
c.85528A>C (p.Ser28510Arg)
c.82570A>C (p.Ser27524Arg)
c.64186A>C (p.Ser21396Arg)
c.85681A>C (p.Ser28561Arg)
c.85678A>C (p.Ser28560Arg)
c.85111A>C (p.Ser28371Arg)
c.82453A>C (p.Ser27485Arg)
c.82372A>C (p.Ser27458Arg)
c.64135A>C (p.Ser21379Arg)
c.53989A>C (p.Ser17997Arg)
2g.178551660T=CA1310521135TTN,TTN-AS1c.83536A= (p.Ser27846=)
c.64621A= (p.Ser21541=)
c.64420A= (p.Ser21474=)
c.64045A= (p.Ser21349=)
c.91240A= (p.Ser30414=)
c.86317A= (p.Ser28773=)
n.447-19640T=
n.2043+9299T=
c.90337A= (p.Ser30113=)
c.64231A= (p.Ser21411=)
c.64090A= (p.Ser21364=)
c.90133A= (p.Ser30045=)
c.85531A= (p.Ser28511=)
c.85528A= (p.Ser28510=)
c.82570A= (p.Ser27524=)
c.64186A= (p.Ser21396=)
c.85681A= (p.Ser28561=)
c.85678A= (p.Ser28560=)
c.85111A= (p.Ser28371=)
c.82453A= (p.Ser27485=)
c.82372A= (p.Ser27458=)
c.64135A= (p.Ser21379=)
c.53989A= (p.Ser17997=)
2g.178551661T>ACA430104032TTN,TTN-AS1c.83535A>T (p.Pro27845=)
c.64620A>T (p.Pro21540=)
c.64419A>T (p.Pro21473=)
c.64044A>T (p.Pro21348=)
c.91239A>T (p.Pro30413=)
c.86316A>T (p.Pro28772=)
n.447-19639T>A
n.2043+9300T>A
c.90336A>T (p.Pro30112=)
c.64230A>T (p.Pro21410=)
c.64089A>T (p.Pro21363=)
c.90132A>T (p.Pro30044=)
c.85530A>T (p.Pro28510=)
c.85527A>T (p.Pro28509=)
c.82569A>T (p.Pro27523=)
c.64185A>T (p.Pro21395=)
c.85680A>T (p.Pro28560=)
c.85677A>T (p.Pro28559=)
c.85110A>T (p.Pro28370=)
c.82452A>T (p.Pro27484=)
c.82371A>T (p.Pro27457=)
c.64134A>T (p.Pro21378=)
c.53988A>T (p.Pro17996=)
2g.178551661T>CCA430104034TTN,TTN-AS1c.83535A>G (p.Pro27845=)
c.64620A>G (p.Pro21540=)
c.64419A>G (p.Pro21473=)
c.64044A>G (p.Pro21348=)
c.91239A>G (p.Pro30413=)
c.86316A>G (p.Pro28772=)
n.447-19639T>C
n.2043+9300T>C
c.90336A>G (p.Pro30112=)
c.64230A>G (p.Pro21410=)
c.64089A>G (p.Pro21363=)
c.90132A>G (p.Pro30044=)
c.85530A>G (p.Pro28510=)
c.85527A>G (p.Pro28509=)
c.82569A>G (p.Pro27523=)
c.64185A>G (p.Pro21395=)
c.85680A>G (p.Pro28560=)
c.85677A>G (p.Pro28559=)
c.85110A>G (p.Pro28370=)
c.82452A>G (p.Pro27484=)
c.82371A>G (p.Pro27457=)
c.64134A>G (p.Pro21378=)
c.53988A>G (p.Pro17996=)
2g.178551661T>GCA430104035TTN,TTN-AS1c.83535A>C (p.Pro27845=)
c.64620A>C (p.Pro21540=)
c.64419A>C (p.Pro21473=)
c.64044A>C (p.Pro21348=)
c.91239A>C (p.Pro30413=)
c.86316A>C (p.Pro28772=)
n.447-19639T>G
n.2043+9300T>G
c.90336A>C (p.Pro30112=)
c.64230A>C (p.Pro21410=)
c.64089A>C (p.Pro21363=)
c.90132A>C (p.Pro30044=)
c.85530A>C (p.Pro28510=)
c.85527A>C (p.Pro28509=)
c.82569A>C (p.Pro27523=)
c.64185A>C (p.Pro21395=)
c.85680A>C (p.Pro28560=)
c.85677A>C (p.Pro28559=)
c.85110A>C (p.Pro28370=)
c.82452A>C (p.Pro27484=)
c.82371A>C (p.Pro27457=)
c.64134A>C (p.Pro21378=)
c.53988A>C (p.Pro17996=)
2g.178551662G>ACA349502740TTN,TTN-AS1c.83534C>T (p.Pro27845Leu)
c.64619C>T (p.Pro21540Leu)
c.64418C>T (p.Pro21473Leu)
c.64043C>T (p.Pro21348Leu)
c.91238C>T (p.Pro30413Leu)
c.86315C>T (p.Pro28772Leu)
n.447-19638G>A
n.2043+9301G>A
c.90335C>T (p.Pro30112Leu)
c.64229C>T (p.Pro21410Leu)
c.64088C>T (p.Pro21363Leu)
c.90131C>T (p.Pro30044Leu)
c.85529C>T (p.Pro28510Leu)
c.85526C>T (p.Pro28509Leu)
c.82568C>T (p.Pro27523Leu)
c.64184C>T (p.Pro21395Leu)
c.85679C>T (p.Pro28560Leu)
c.85676C>T (p.Pro28559Leu)
c.85109C>T (p.Pro28370Leu)
c.82451C>T (p.Pro27484Leu)
c.82370C>T (p.Pro27457Leu)
c.64133C>T (p.Pro21378Leu)
c.53987C>T (p.Pro17996Leu)
2g.178551662G>CCA349502742TTN,TTN-AS1c.83534C>G (p.Pro27845Arg)
c.64619C>G (p.Pro21540Arg)
c.64418C>G (p.Pro21473Arg)
c.64043C>G (p.Pro21348Arg)
c.91238C>G (p.Pro30413Arg)
c.86315C>G (p.Pro28772Arg)
n.447-19638G>C
n.2043+9301G>C
c.90335C>G (p.Pro30112Arg)
c.64229C>G (p.Pro21410Arg)
c.64088C>G (p.Pro21363Arg)
c.90131C>G (p.Pro30044Arg)
c.85529C>G (p.Pro28510Arg)
c.85526C>G (p.Pro28509Arg)
c.82568C>G (p.Pro27523Arg)
c.64184C>G (p.Pro21395Arg)
c.85679C>G (p.Pro28560Arg)
c.85676C>G (p.Pro28559Arg)
c.85109C>G (p.Pro28370Arg)
c.82451C>G (p.Pro27484Arg)
c.82370C>G (p.Pro27457Arg)
c.64133C>G (p.Pro21378Arg)
c.53987C>G (p.Pro17996Arg)
2g.178551662G>TCA349502743TTN,TTN-AS1c.83534C>A (p.Pro27845Gln)
c.64619C>A (p.Pro21540Gln)
c.64418C>A (p.Pro21473Gln)
c.64043C>A (p.Pro21348Gln)
c.91238C>A (p.Pro30413Gln)
c.86315C>A (p.Pro28772Gln)
n.447-19638G>T
n.2043+9301G>T
c.90335C>A (p.Pro30112Gln)
c.64229C>A (p.Pro21410Gln)
c.64088C>A (p.Pro21363Gln)
c.90131C>A (p.Pro30044Gln)
c.85529C>A (p.Pro28510Gln)
c.85526C>A (p.Pro28509Gln)
c.82568C>A (p.Pro27523Gln)
c.64184C>A (p.Pro21395Gln)
c.85679C>A (p.Pro28560Gln)
c.85676C>A (p.Pro28559Gln)
c.85109C>A (p.Pro28370Gln)
c.82451C>A (p.Pro27484Gln)
c.82370C>A (p.Pro27457Gln)
c.64133C>A (p.Pro21378Gln)
c.53987C>A (p.Pro17996Gln)
2g.178551663G>ACA349502748TTN,TTN-AS1c.83533C>T (p.Pro27845Ser)
c.64618C>T (p.Pro21540Ser)
c.64417C>T (p.Pro21473Ser)
c.64042C>T (p.Pro21348Ser)
c.91237C>T (p.Pro30413Ser)
c.86314C>T (p.Pro28772Ser)
n.447-19637G>A
n.2043+9302G>A
c.90334C>T (p.Pro30112Ser)
c.64228C>T (p.Pro21410Ser)
c.64087C>T (p.Pro21363Ser)
c.90130C>T (p.Pro30044Ser)
c.85528C>T (p.Pro28510Ser)
c.85525C>T (p.Pro28509Ser)
c.82567C>T (p.Pro27523Ser)
c.64183C>T (p.Pro21395Ser)
c.85678C>T (p.Pro28560Ser)
c.85675C>T (p.Pro28559Ser)
c.85108C>T (p.Pro28370Ser)
c.82450C>T (p.Pro27484Ser)
c.82369C>T (p.Pro27457Ser)
c.64132C>T (p.Pro21378Ser)
c.53986C>T (p.Pro17996Ser)
 gnomAD v4
2g.178551663G>CCA349502750TTN,TTN-AS1c.83533C>G (p.Pro27845Ala)
c.64618C>G (p.Pro21540Ala)
c.64417C>G (p.Pro21473Ala)
c.64042C>G (p.Pro21348Ala)
c.91237C>G (p.Pro30413Ala)
c.86314C>G (p.Pro28772Ala)
n.447-19637G>C
n.2043+9302G>C
c.90334C>G (p.Pro30112Ala)
c.64228C>G (p.Pro21410Ala)
c.64087C>G (p.Pro21363Ala)
c.90130C>G (p.Pro30044Ala)
c.85528C>G (p.Pro28510Ala)
c.85525C>G (p.Pro28509Ala)
c.82567C>G (p.Pro27523Ala)
c.64183C>G (p.Pro21395Ala)
c.85678C>G (p.Pro28560Ala)
c.85675C>G (p.Pro28559Ala)
c.85108C>G (p.Pro28370Ala)
c.82450C>G (p.Pro27484Ala)
c.82369C>G (p.Pro27457Ala)
c.64132C>G (p.Pro21378Ala)
c.53986C>G (p.Pro17996Ala)
2g.178551663G>TCA349502751TTN,TTN-AS1c.83533C>A (p.Pro27845Thr)
c.64618C>A (p.Pro21540Thr)
c.64417C>A (p.Pro21473Thr)
c.64042C>A (p.Pro21348Thr)
c.91237C>A (p.Pro30413Thr)
c.86314C>A (p.Pro28772Thr)
n.447-19637G>T
n.2043+9302G>T
c.90334C>A (p.Pro30112Thr)
c.64228C>A (p.Pro21410Thr)
c.64087C>A (p.Pro21363Thr)
c.90130C>A (p.Pro30044Thr)
c.85528C>A (p.Pro28510Thr)
c.85525C>A (p.Pro28509Thr)
c.82567C>A (p.Pro27523Thr)
c.64183C>A (p.Pro21395Thr)
c.85678C>A (p.Pro28560Thr)
c.85675C>A (p.Pro28559Thr)
c.85108C>A (p.Pro28370Thr)
c.82450C>A (p.Pro27484Thr)
c.82369C>A (p.Pro27457Thr)
c.64132C>A (p.Pro21378Thr)
c.53986C>A (p.Pro17996Thr)
2g.178551664G>ACA430104040TTN,TTN-AS1c.83532C>T (p.Asp27844=)
c.64617C>T (p.Asp21539=)
c.64416C>T (p.Asp21472=)
c.64041C>T (p.Asp21347=)
c.91236C>T (p.Asp30412=)
c.86313C>T (p.Asp28771=)
n.447-19636G>A
n.2043+9303G>A
c.90333C>T (p.Asp30111=)
c.64227C>T (p.Asp21409=)
c.64086C>T (p.Asp21362=)
c.90129C>T (p.Asp30043=)
c.85527C>T (p.Asp28509=)
c.85524C>T (p.Asp28508=)
c.82566C>T (p.Asp27522=)
c.64182C>T (p.Asp21394=)
c.85677C>T (p.Asp28559=)
c.85674C>T (p.Asp28558=)
c.85107C>T (p.Asp28369=)
c.82449C>T (p.Asp27483=)
c.82368C>T (p.Asp27456=)
c.64131C>T (p.Asp21377=)
c.53985C>T (p.Asp17995=)
2g.178551664G>CCA349502753TTN,TTN-AS1c.83532C>G (p.Asp27844Glu)
c.64617C>G (p.Asp21539Glu)
c.64416C>G (p.Asp21472Glu)
c.64041C>G (p.Asp21347Glu)
c.91236C>G (p.Asp30412Glu)
c.86313C>G (p.Asp28771Glu)
n.447-19636G>C
n.2043+9303G>C
c.90333C>G (p.Asp30111Glu)
c.64227C>G (p.Asp21409Glu)
c.64086C>G (p.Asp21362Glu)
c.90129C>G (p.Asp30043Glu)
c.85527C>G (p.Asp28509Glu)
c.85524C>G (p.Asp28508Glu)
c.82566C>G (p.Asp27522Glu)
c.64182C>G (p.Asp21394Glu)
c.85677C>G (p.Asp28559Glu)
c.85674C>G (p.Asp28558Glu)
c.85107C>G (p.Asp28369Glu)
c.82449C>G (p.Asp27483Glu)
c.82368C>G (p.Asp27456Glu)
c.64131C>G (p.Asp21377Glu)
c.53985C>G (p.Asp17995Glu)
2g.178551664G>TCA349502752TTN,TTN-AS1c.83532C>A (p.Asp27844Glu)
c.64617C>A (p.Asp21539Glu)
c.64416C>A (p.Asp21472Glu)
c.64041C>A (p.Asp21347Glu)
c.91236C>A (p.Asp30412Glu)
c.86313C>A (p.Asp28771Glu)
n.447-19636G>T
n.2043+9303G>T
c.90333C>A (p.Asp30111Glu)
c.64227C>A (p.Asp21409Glu)
c.64086C>A (p.Asp21362Glu)
c.90129C>A (p.Asp30043Glu)
c.85527C>A (p.Asp28509Glu)
c.85524C>A (p.Asp28508Glu)
c.82566C>A (p.Asp27522Glu)
c.64182C>A (p.Asp21394Glu)
c.85677C>A (p.Asp28559Glu)
c.85674C>A (p.Asp28558Glu)
c.85107C>A (p.Asp28369Glu)
c.82449C>A (p.Asp27483Glu)
c.82368C>A (p.Asp27456Glu)
c.64131C>A (p.Asp21377Glu)
c.53985C>A (p.Asp17995Glu)
2g.178551665T>ACA349502757TTN,TTN-AS1c.83531A>T (p.Asp27844Val)
c.64616A>T (p.Asp21539Val)
c.64415A>T (p.Asp21472Val)
c.64040A>T (p.Asp21347Val)
c.91235A>T (p.Asp30412Val)
c.86312A>T (p.Asp28771Val)
n.447-19635T>A
n.2043+9304T>A
c.90332A>T (p.Asp30111Val)
c.64226A>T (p.Asp21409Val)
c.64085A>T (p.Asp21362Val)
c.90128A>T (p.Asp30043Val)
c.85526A>T (p.Asp28509Val)
c.85523A>T (p.Asp28508Val)
c.82565A>T (p.Asp27522Val)
c.64181A>T (p.Asp21394Val)
c.85676A>T (p.Asp28559Val)
c.85673A>T (p.Asp28558Val)
c.85106A>T (p.Asp28369Val)
c.82448A>T (p.Asp27483Val)
c.82367A>T (p.Asp27456Val)
c.64130A>T (p.Asp21377Val)
c.53984A>T (p.Asp17995Val)
2g.178551665T>CCA349502760TTN,TTN-AS1c.83531A>G (p.Asp27844Gly)
c.64616A>G (p.Asp21539Gly)
c.64415A>G (p.Asp21472Gly)
c.64040A>G (p.Asp21347Gly)
c.91235A>G (p.Asp30412Gly)
c.86312A>G (p.Asp28771Gly)
n.447-19635T>C
n.2043+9304T>C
c.90332A>G (p.Asp30111Gly)
c.64226A>G (p.Asp21409Gly)
c.64085A>G (p.Asp21362Gly)
c.90128A>G (p.Asp30043Gly)
c.85526A>G (p.Asp28509Gly)
c.85523A>G (p.Asp28508Gly)
c.82565A>G (p.Asp27522Gly)
c.64181A>G (p.Asp21394Gly)
c.85676A>G (p.Asp28559Gly)
c.85673A>G (p.Asp28558Gly)
c.85106A>G (p.Asp28369Gly)
c.82448A>G (p.Asp27483Gly)
c.82367A>G (p.Asp27456Gly)
c.64130A>G (p.Asp21377Gly)
c.53984A>G (p.Asp17995Gly)
 gnomAD v4
2g.178551665T>GCA349502766TTN,TTN-AS1c.83531A>C (p.Asp27844Ala)
c.64616A>C (p.Asp21539Ala)
c.64415A>C (p.Asp21472Ala)
c.64040A>C (p.Asp21347Ala)
c.91235A>C (p.Asp30412Ala)
c.86312A>C (p.Asp28771Ala)
n.447-19635T>G
n.2043+9304T>G
c.90332A>C (p.Asp30111Ala)
c.64226A>C (p.Asp21409Ala)
c.64085A>C (p.Asp21362Ala)
c.90128A>C (p.Asp30043Ala)
c.85526A>C (p.Asp28509Ala)
c.85523A>C (p.Asp28508Ala)
c.82565A>C (p.Asp27522Ala)
c.64181A>C (p.Asp21394Ala)
c.85676A>C (p.Asp28559Ala)
c.85673A>C (p.Asp28558Ala)
c.85106A>C (p.Asp28369Ala)
c.82448A>C (p.Asp27483Ala)
c.82367A>C (p.Asp27456Ala)
c.64130A>C (p.Asp21377Ala)
c.53984A>C (p.Asp17995Ala)
2g.178551666C>ACA349502770TTN,TTN-AS1c.83530G>T (p.Asp27844Tyr)
c.64615G>T (p.Asp21539Tyr)
c.64414G>T (p.Asp21472Tyr)
c.64039G>T (p.Asp21347Tyr)
c.91234G>T (p.Asp30412Tyr)
c.86311G>T (p.Asp28771Tyr)
n.447-19634C>A
n.2043+9305C>A
c.90331G>T (p.Asp30111Tyr)
c.64225G>T (p.Asp21409Tyr)
c.64084G>T (p.Asp21362Tyr)
c.90127G>T (p.Asp30043Tyr)
c.85525G>T (p.Asp28509Tyr)
c.85522G>T (p.Asp28508Tyr)
c.82564G>T (p.Asp27522Tyr)
c.64180G>T (p.Asp21394Tyr)
c.85675G>T (p.Asp28559Tyr)
c.85672G>T (p.Asp28558Tyr)
c.85105G>T (p.Asp28369Tyr)
c.82447G>T (p.Asp27483Tyr)
c.82366G>T (p.Asp27456Tyr)
c.64129G>T (p.Asp21377Tyr)
c.53983G>T (p.Asp17995Tyr)
 dbSNP
2g.178551666C=CA1310521137TTN,TTN-AS1c.83530G= (p.Asp27844=)
c.64615G= (p.Asp21539=)
c.64414G= (p.Asp21472=)
c.64039G= (p.Asp21347=)
c.91234G= (p.Asp30412=)
c.86311G= (p.Asp28771=)
n.447-19634C=
n.2043+9305C=
c.90331G= (p.Asp30111=)
c.64225G= (p.Asp21409=)
c.64084G= (p.Asp21362=)
c.90127G= (p.Asp30043=)
c.85525G= (p.Asp28509=)
c.85522G= (p.Asp28508=)
c.82564G= (p.Asp27522=)
c.64180G= (p.Asp21394=)
c.85675G= (p.Asp28559=)
c.85672G= (p.Asp28558=)
c.85105G= (p.Asp28369=)
c.82447G= (p.Asp27483=)
c.82366G= (p.Asp27456=)
c.64129G= (p.Asp21377=)
c.53983G= (p.Asp17995=)
2g.178551666C>GCA349502771TTN,TTN-AS1c.83530G>C (p.Asp27844His)
c.64615G>C (p.Asp21539His)
c.64414G>C (p.Asp21472His)
c.64039G>C (p.Asp21347His)
c.91234G>C (p.Asp30412His)
c.86311G>C (p.Asp28771His)
n.447-19634C>G
n.2043+9305C>G
c.90331G>C (p.Asp30111His)
c.64225G>C (p.Asp21409His)
c.64084G>C (p.Asp21362His)
c.90127G>C (p.Asp30043His)
c.85525G>C (p.Asp28509His)
c.85522G>C (p.Asp28508His)
c.82564G>C (p.Asp27522His)
c.64180G>C (p.Asp21394His)
c.85675G>C (p.Asp28559His)
c.85672G>C (p.Asp28558His)
c.85105G>C (p.Asp28369His)
c.82447G>C (p.Asp27483His)
c.82366G>C (p.Asp27456His)
c.64129G>C (p.Asp21377His)
c.53983G>C (p.Asp17995His)
2g.178551666C>TCA349502774TTN,TTN-AS1c.83530G>A (p.Asp27844Asn)
c.64615G>A (p.Asp21539Asn)
c.64414G>A (p.Asp21472Asn)
c.64039G>A (p.Asp21347Asn)
c.91234G>A (p.Asp30412Asn)
c.86311G>A (p.Asp28771Asn)
n.447-19634C>T
n.2043+9305C>T
c.90331G>A (p.Asp30111Asn)
c.64225G>A (p.Asp21409Asn)
c.64084G>A (p.Asp21362Asn)
c.90127G>A (p.Asp30043Asn)
c.85525G>A (p.Asp28509Asn)
c.85522G>A (p.Asp28508Asn)
c.82564G>A (p.Asp27522Asn)
c.64180G>A (p.Asp21394Asn)
c.85675G>A (p.Asp28559Asn)
c.85672G>A (p.Asp28558Asn)
c.85105G>A (p.Asp28369Asn)
c.82447G>A (p.Asp27483Asn)
c.82366G>A (p.Asp27456Asn)
c.64129G>A (p.Asp21377Asn)
c.53983G>A (p.Asp17995Asn)
 gnomAD v4
2g.178551667A>CCA349502781TTN,TTN-AS1c.83529T>G (p.Ser27843Arg)
c.64614T>G (p.Ser21538Arg)
c.64413T>G (p.Ser21471Arg)
c.64038T>G (p.Ser21346Arg)
c.91233T>G (p.Ser30411Arg)
c.86310T>G (p.Ser28770Arg)
n.447-19633A>C
n.2043+9306A>C
c.90330T>G (p.Ser30110Arg)
c.64224T>G (p.Ser21408Arg)
c.64083T>G (p.Ser21361Arg)
c.90126T>G (p.Ser30042Arg)
c.85524T>G (p.Ser28508Arg)
c.85521T>G (p.Ser28507Arg)
c.82563T>G (p.Ser27521Arg)
c.64179T>G (p.Ser21393Arg)
c.85674T>G (p.Ser28558Arg)
c.85671T>G (p.Ser28557Arg)
c.85104T>G (p.Ser28368Arg)
c.82446T>G (p.Ser27482Arg)
c.82365T>G (p.Ser27455Arg)
c.64128T>G (p.Ser21376Arg)
c.53982T>G (p.Ser17994Arg)
2g.178551667A>GCA430104047TTN,TTN-AS1c.83529T>C (p.Ser27843=)
c.64614T>C (p.Ser21538=)
c.64413T>C (p.Ser21471=)
c.64038T>C (p.Ser21346=)
c.91233T>C (p.Ser30411=)
c.86310T>C (p.Ser28770=)
n.447-19633A>G
n.2043+9306A>G
c.90330T>C (p.Ser30110=)
c.64224T>C (p.Ser21408=)
c.64083T>C (p.Ser21361=)
c.90126T>C (p.Ser30042=)
c.85524T>C (p.Ser28508=)
c.85521T>C (p.Ser28507=)
c.82563T>C (p.Ser27521=)
c.64179T>C (p.Ser21393=)
c.85674T>C (p.Ser28558=)
c.85671T>C (p.Ser28557=)
c.85104T>C (p.Ser28368=)
c.82446T>C (p.Ser27482=)
c.82365T>C (p.Ser27455=)
c.64128T>C (p.Ser21376=)
c.53982T>C (p.Ser17994=)
2g.178551667A>TCA349502777TTN,TTN-AS1c.83529T>A (p.Ser27843Arg)
c.64614T>A (p.Ser21538Arg)
c.64413T>A (p.Ser21471Arg)
c.64038T>A (p.Ser21346Arg)
c.91233T>A (p.Ser30411Arg)
c.86310T>A (p.Ser28770Arg)
n.447-19633A>T
n.2043+9306A>T
c.90330T>A (p.Ser30110Arg)
c.64224T>A (p.Ser21408Arg)
c.64083T>A (p.Ser21361Arg)
c.90126T>A (p.Ser30042Arg)
c.85524T>A (p.Ser28508Arg)
c.85521T>A (p.Ser28507Arg)
c.82563T>A (p.Ser27521Arg)
c.64179T>A (p.Ser21393Arg)
c.85674T>A (p.Ser28558Arg)
c.85671T>A (p.Ser28557Arg)
c.85104T>A (p.Ser28368Arg)
c.82446T>A (p.Ser27482Arg)
c.82365T>A (p.Ser27455Arg)
c.64128T>A (p.Ser21376Arg)
c.53982T>A (p.Ser17994Arg)
2g.178551668C>ACA349502784TTN,TTN-AS1c.83528G>T (p.Ser27843Ile)
c.64613G>T (p.Ser21538Ile)
c.64412G>T (p.Ser21471Ile)
c.64037G>T (p.Ser21346Ile)
c.91232G>T (p.Ser30411Ile)
c.86309G>T (p.Ser28770Ile)
n.447-19632C>A
n.2043+9307C>A
c.90329G>T (p.Ser30110Ile)
c.64223G>T (p.Ser21408Ile)
c.64082G>T (p.Ser21361Ile)
c.90125G>T (p.Ser30042Ile)
c.85523G>T (p.Ser28508Ile)
c.85520G>T (p.Ser28507Ile)
c.82562G>T (p.Ser27521Ile)
c.64178G>T (p.Ser21393Ile)
c.85673G>T (p.Ser28558Ile)
c.85670G>T (p.Ser28557Ile)
c.85103G>T (p.Ser28368Ile)
c.82445G>T (p.Ser27482Ile)
c.82364G>T (p.Ser27455Ile)
c.64127G>T (p.Ser21376Ile)
c.53981G>T (p.Ser17994Ile)
2g.178551668C=CA1310521138TTN,TTN-AS1c.83528G= (p.Ser27843=)
c.64613G= (p.Ser21538=)
c.64412G= (p.Ser21471=)
c.64037G= (p.Ser21346=)
c.91232G= (p.Ser30411=)
c.86309G= (p.Ser28770=)
n.447-19632C=
n.2043+9307C=
c.90329G= (p.Ser30110=)
c.64223G= (p.Ser21408=)
c.64082G= (p.Ser21361=)
c.90125G= (p.Ser30042=)
c.85523G= (p.Ser28508=)
c.85520G= (p.Ser28507=)
c.82562G= (p.Ser27521=)
c.64178G= (p.Ser21393=)
c.85673G= (p.Ser28558=)
c.85670G= (p.Ser28557=)
c.85103G= (p.Ser28368=)
c.82445G= (p.Ser27482=)
c.82364G= (p.Ser27455=)
c.64127G= (p.Ser21376=)
c.53981G= (p.Ser17994=)
2g.178551668C>GCA349502786TTN,TTN-AS1c.83528G>C (p.Ser27843Thr)
c.64613G>C (p.Ser21538Thr)
c.64412G>C (p.Ser21471Thr)
c.64037G>C (p.Ser21346Thr)
c.91232G>C (p.Ser30411Thr)
c.86309G>C (p.Ser28770Thr)
n.447-19632C>G
n.2043+9307C>G
c.90329G>C (p.Ser30110Thr)
c.64223G>C (p.Ser21408Thr)
c.64082G>C (p.Ser21361Thr)
c.90125G>C (p.Ser30042Thr)
c.85523G>C (p.Ser28508Thr)
c.85520G>C (p.Ser28507Thr)
c.82562G>C (p.Ser27521Thr)
c.64178G>C (p.Ser21393Thr)
c.85673G>C (p.Ser28558Thr)
c.85670G>C (p.Ser28557Thr)
c.85103G>C (p.Ser28368Thr)
c.82445G>C (p.Ser27482Thr)
c.82364G>C (p.Ser27455Thr)
c.64127G>C (p.Ser21376Thr)
c.53981G>C (p.Ser17994Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178551668C>TCA349502792TTN,TTN-AS1c.83528G>A (p.Ser27843Asn)
c.64613G>A (p.Ser21538Asn)
c.64412G>A (p.Ser21471Asn)
c.64037G>A (p.Ser21346Asn)
c.91232G>A (p.Ser30411Asn)
c.86309G>A (p.Ser28770Asn)
n.447-19632C>T
n.2043+9307C>T
c.90329G>A (p.Ser30110Asn)
c.64223G>A (p.Ser21408Asn)
c.64082G>A (p.Ser21361Asn)
c.90125G>A (p.Ser30042Asn)
c.85523G>A (p.Ser28508Asn)
c.85520G>A (p.Ser28507Asn)
c.82562G>A (p.Ser27521Asn)
c.64178G>A (p.Ser21393Asn)
c.85673G>A (p.Ser28558Asn)
c.85670G>A (p.Ser28557Asn)
c.85103G>A (p.Ser28368Asn)
c.82445G>A (p.Ser27482Asn)
c.82364G>A (p.Ser27455Asn)
c.64127G>A (p.Ser21376Asn)
c.53981G>A (p.Ser17994Asn)
 gnomAD v4
2g.178551669T>ACA349502801TTN,TTN-AS1c.83527A>T (p.Ser27843Cys)
c.64612A>T (p.Ser21538Cys)
c.64411A>T (p.Ser21471Cys)
c.64036A>T (p.Ser21346Cys)
c.91231A>T (p.Ser30411Cys)
c.86308A>T (p.Ser28770Cys)
n.447-19631T>A
n.2043+9308T>A
c.90328A>T (p.Ser30110Cys)
c.64222A>T (p.Ser21408Cys)
c.64081A>T (p.Ser21361Cys)
c.90124A>T (p.Ser30042Cys)
c.85522A>T (p.Ser28508Cys)
c.85519A>T (p.Ser28507Cys)
c.82561A>T (p.Ser27521Cys)
c.64177A>T (p.Ser21393Cys)
c.85672A>T (p.Ser28558Cys)
c.85669A>T (p.Ser28557Cys)
c.85102A>T (p.Ser28368Cys)
c.82444A>T (p.Ser27482Cys)
c.82363A>T (p.Ser27455Cys)
c.64126A>T (p.Ser21376Cys)
c.53980A>T (p.Ser17994Cys)
2g.178551669T>CCA349502802TTN,TTN-AS1c.83527A>G (p.Ser27843Gly)
c.64612A>G (p.Ser21538Gly)
c.64411A>G (p.Ser21471Gly)
c.64036A>G (p.Ser21346Gly)
c.91231A>G (p.Ser30411Gly)
c.86308A>G (p.Ser28770Gly)
n.447-19631T>C
n.2043+9308T>C
c.90328A>G (p.Ser30110Gly)
c.64222A>G (p.Ser21408Gly)
c.64081A>G (p.Ser21361Gly)
c.90124A>G (p.Ser30042Gly)
c.85522A>G (p.Ser28508Gly)
c.85519A>G (p.Ser28507Gly)
c.82561A>G (p.Ser27521Gly)
c.64177A>G (p.Ser21393Gly)
c.85672A>G (p.Ser28558Gly)
c.85669A>G (p.Ser28557Gly)
c.85102A>G (p.Ser28368Gly)
c.82444A>G (p.Ser27482Gly)
c.82363A>G (p.Ser27455Gly)
c.64126A>G (p.Ser21376Gly)
c.53980A>G (p.Ser17994Gly)
2g.178551669T>GCA349502803TTN,TTN-AS1c.83527A>C (p.Ser27843Arg)
c.64612A>C (p.Ser21538Arg)
c.64411A>C (p.Ser21471Arg)
c.64036A>C (p.Ser21346Arg)
c.91231A>C (p.Ser30411Arg)
c.86308A>C (p.Ser28770Arg)
n.447-19631T>G
n.2043+9308T>G
c.90328A>C (p.Ser30110Arg)
c.64222A>C (p.Ser21408Arg)
c.64081A>C (p.Ser21361Arg)
c.90124A>C (p.Ser30042Arg)
c.85522A>C (p.Ser28508Arg)
c.85519A>C (p.Ser28507Arg)
c.82561A>C (p.Ser27521Arg)
c.64177A>C (p.Ser21393Arg)
c.85672A>C (p.Ser28558Arg)
c.85669A>C (p.Ser28557Arg)
c.85102A>C (p.Ser28368Arg)
c.82444A>C (p.Ser27482Arg)
c.82363A>C (p.Ser27455Arg)
c.64126A>C (p.Ser21376Arg)
c.53980A>C (p.Ser17994Arg)
2g.178551670A>CCA430104048TTN,TTN-AS1c.83526T>G (p.Pro27842=)
c.64611T>G (p.Pro21537=)
c.64410T>G (p.Pro21470=)
c.64035T>G (p.Pro21345=)
c.91230T>G (p.Pro30410=)
c.86307T>G (p.Pro28769=)
n.447-19630A>C
n.2043+9309A>C
c.90327T>G (p.Pro30109=)
c.64221T>G (p.Pro21407=)
c.64080T>G (p.Pro21360=)
c.90123T>G (p.Pro30041=)
c.85521T>G (p.Pro28507=)
c.85518T>G (p.Pro28506=)
c.82560T>G (p.Pro27520=)
c.64176T>G (p.Pro21392=)
c.85671T>G (p.Pro28557=)
c.85668T>G (p.Pro28556=)
c.85101T>G (p.Pro28367=)
c.82443T>G (p.Pro27481=)
c.82362T>G (p.Pro27454=)
c.64125T>G (p.Pro21375=)
c.53979T>G (p.Pro17993=)
2g.178551670A>GCA430104052TTN,TTN-AS1c.83526T>C (p.Pro27842=)
c.64611T>C (p.Pro21537=)
c.64410T>C (p.Pro21470=)
c.64035T>C (p.Pro21345=)
c.91230T>C (p.Pro30410=)
c.86307T>C (p.Pro28769=)
n.447-19630A>G
n.2043+9309A>G
c.90327T>C (p.Pro30109=)
c.64221T>C (p.Pro21407=)
c.64080T>C (p.Pro21360=)
c.90123T>C (p.Pro30041=)
c.85521T>C (p.Pro28507=)
c.85518T>C (p.Pro28506=)
c.82560T>C (p.Pro27520=)
c.64176T>C (p.Pro21392=)
c.85671T>C (p.Pro28557=)
c.85668T>C (p.Pro28556=)
c.85101T>C (p.Pro28367=)
c.82443T>C (p.Pro27481=)
c.82362T>C (p.Pro27454=)
c.64125T>C (p.Pro21375=)
c.53979T>C (p.Pro17993=)
2g.178551670A>TCA430104050TTN,TTN-AS1c.83526T>A (p.Pro27842=)
c.64611T>A (p.Pro21537=)
c.64410T>A (p.Pro21470=)
c.64035T>A (p.Pro21345=)
c.91230T>A (p.Pro30410=)
c.86307T>A (p.Pro28769=)
n.447-19630A>T
n.2043+9309A>T
c.90327T>A (p.Pro30109=)
c.64221T>A (p.Pro21407=)
c.64080T>A (p.Pro21360=)
c.90123T>A (p.Pro30041=)
c.85521T>A (p.Pro28507=)
c.85518T>A (p.Pro28506=)
c.82560T>A (p.Pro27520=)
c.64176T>A (p.Pro21392=)
c.85671T>A (p.Pro28557=)
c.85668T>A (p.Pro28556=)
c.85101T>A (p.Pro28367=)
c.82443T>A (p.Pro27481=)
c.82362T>A (p.Pro27454=)
c.64125T>A (p.Pro21375=)
c.53979T>A (p.Pro17993=)
2g.178551671G>ACA349502808TTN,TTN-AS1c.83525C>T (p.Pro27842Leu)
c.64610C>T (p.Pro21537Leu)
c.64409C>T (p.Pro21470Leu)
c.64034C>T (p.Pro21345Leu)
c.91229C>T (p.Pro30410Leu)
c.86306C>T (p.Pro28769Leu)
n.447-19629G>A
n.2043+9310G>A
c.90326C>T (p.Pro30109Leu)
c.64220C>T (p.Pro21407Leu)
c.64079C>T (p.Pro21360Leu)
c.90122C>T (p.Pro30041Leu)
c.85520C>T (p.Pro28507Leu)
c.85517C>T (p.Pro28506Leu)
c.82559C>T (p.Pro27520Leu)
c.64175C>T (p.Pro21392Leu)
c.85670C>T (p.Pro28557Leu)
c.85667C>T (p.Pro28556Leu)
c.85100C>T (p.Pro28367Leu)
c.82442C>T (p.Pro27481Leu)
c.82361C>T (p.Pro27454Leu)
c.64124C>T (p.Pro21375Leu)
c.53978C>T (p.Pro17993Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178551671G>CCA349502816TTN,TTN-AS1c.83525C>G (p.Pro27842Arg)
c.64610C>G (p.Pro21537Arg)
c.64409C>G (p.Pro21470Arg)
c.64034C>G (p.Pro21345Arg)
c.91229C>G (p.Pro30410Arg)
c.86306C>G (p.Pro28769Arg)
n.447-19629G>C
n.2043+9310G>C
c.90326C>G (p.Pro30109Arg)
c.64220C>G (p.Pro21407Arg)
c.64079C>G (p.Pro21360Arg)
c.90122C>G (p.Pro30041Arg)
c.85520C>G (p.Pro28507Arg)
c.85517C>G (p.Pro28506Arg)
c.82559C>G (p.Pro27520Arg)
c.64175C>G (p.Pro21392Arg)
c.85670C>G (p.Pro28557Arg)
c.85667C>G (p.Pro28556Arg)
c.85100C>G (p.Pro28367Arg)
c.82442C>G (p.Pro27481Arg)
c.82361C>G (p.Pro27454Arg)
c.64124C>G (p.Pro21375Arg)
c.53978C>G (p.Pro17993Arg)
2g.178551671G>TCA349502813TTN,TTN-AS1c.83525C>A (p.Pro27842His)
c.64610C>A (p.Pro21537His)
c.64409C>A (p.Pro21470His)
c.64034C>A (p.Pro21345His)
c.91229C>A (p.Pro30410His)
c.86306C>A (p.Pro28769His)
n.447-19629G>T
n.2043+9310G>T
c.90326C>A (p.Pro30109His)
c.64220C>A (p.Pro21407His)
c.64079C>A (p.Pro21360His)
c.90122C>A (p.Pro30041His)
c.85520C>A (p.Pro28507His)
c.85517C>A (p.Pro28506His)
c.82559C>A (p.Pro27520His)
c.64175C>A (p.Pro21392His)
c.85670C>A (p.Pro28557His)
c.85667C>A (p.Pro28556His)
c.85100C>A (p.Pro28367His)
c.82442C>A (p.Pro27481His)
c.82361C>A (p.Pro27454His)
c.64124C>A (p.Pro21375His)
c.53978C>A (p.Pro17993His)
2g.178551672G>ACA349502818TTN,TTN-AS1c.83524C>T (p.Pro27842Ser)
c.64609C>T (p.Pro21537Ser)
c.64408C>T (p.Pro21470Ser)
c.64033C>T (p.Pro21345Ser)
c.91228C>T (p.Pro30410Ser)
c.86305C>T (p.Pro28769Ser)
n.447-19628G>A
n.2043+9311G>A
c.90325C>T (p.Pro30109Ser)
c.64219C>T (p.Pro21407Ser)
c.64078C>T (p.Pro21360Ser)
c.90121C>T (p.Pro30041Ser)
c.85519C>T (p.Pro28507Ser)
c.85516C>T (p.Pro28506Ser)
c.82558C>T (p.Pro27520Ser)
c.64174C>T (p.Pro21392Ser)
c.85669C>T (p.Pro28557Ser)
c.85666C>T (p.Pro28556Ser)
c.85099C>T (p.Pro28367Ser)
c.82441C>T (p.Pro27481Ser)
c.82360C>T (p.Pro27454Ser)
c.64123C>T (p.Pro21375Ser)
c.53977C>T (p.Pro17993Ser)
2g.178551672G>CCA349502824TTN,TTN-AS1c.83524C>G (p.Pro27842Ala)
c.64609C>G (p.Pro21537Ala)
c.64408C>G (p.Pro21470Ala)
c.64033C>G (p.Pro21345Ala)
c.91228C>G (p.Pro30410Ala)
c.86305C>G (p.Pro28769Ala)
n.447-19628G>C
n.2043+9311G>C
c.90325C>G (p.Pro30109Ala)
c.64219C>G (p.Pro21407Ala)
c.64078C>G (p.Pro21360Ala)
c.90121C>G (p.Pro30041Ala)
c.85519C>G (p.Pro28507Ala)
c.85516C>G (p.Pro28506Ala)
c.82558C>G (p.Pro27520Ala)
c.64174C>G (p.Pro21392Ala)
c.85669C>G (p.Pro28557Ala)
c.85666C>G (p.Pro28556Ala)
c.85099C>G (p.Pro28367Ala)
c.82441C>G (p.Pro27481Ala)
c.82360C>G (p.Pro27454Ala)
c.64123C>G (p.Pro21375Ala)
c.53977C>G (p.Pro17993Ala)
2g.178551672G>TCA349502825TTN,TTN-AS1c.83524C>A (p.Pro27842Thr)
c.64609C>A (p.Pro21537Thr)
c.64408C>A (p.Pro21470Thr)
c.64033C>A (p.Pro21345Thr)
c.91228C>A (p.Pro30410Thr)
c.86305C>A (p.Pro28769Thr)
n.447-19628G>T
n.2043+9311G>T
c.90325C>A (p.Pro30109Thr)
c.64219C>A (p.Pro21407Thr)
c.64078C>A (p.Pro21360Thr)
c.90121C>A (p.Pro30041Thr)
c.85519C>A (p.Pro28507Thr)
c.85516C>A (p.Pro28506Thr)
c.82558C>A (p.Pro27520Thr)
c.64174C>A (p.Pro21392Thr)
c.85669C>A (p.Pro28557Thr)
c.85666C>A (p.Pro28556Thr)
c.85099C>A (p.Pro28367Thr)
c.82441C>A (p.Pro27481Thr)
c.82360C>A (p.Pro27454Thr)
c.64123C>A (p.Pro21375Thr)
c.53977C>A (p.Pro17993Thr)
2g.178551673T>ACA430104054TTN,TTN-AS1c.83523A>T (p.Ser27841=)
c.64608A>T (p.Ser21536=)
c.64407A>T (p.Ser21469=)
c.64032A>T (p.Ser21344=)
c.91227A>T (p.Ser30409=)
c.86304A>T (p.Ser28768=)
n.447-19627T>A
n.2043+9312T>A
c.90324A>T (p.Ser30108=)
c.64218A>T (p.Ser21406=)
c.64077A>T (p.Ser21359=)
c.90120A>T (p.Ser30040=)
c.85518A>T (p.Ser28506=)
c.85515A>T (p.Ser28505=)
c.82557A>T (p.Ser27519=)
c.64173A>T (p.Ser21391=)
c.85668A>T (p.Ser28556=)
c.85665A>T (p.Ser28555=)
c.85098A>T (p.Ser28366=)
c.82440A>T (p.Ser27480=)
c.82359A>T (p.Ser27453=)
c.64122A>T (p.Ser21374=)
c.53976A>T (p.Ser17992=)
2g.178551673T>CCA430104056TTN,TTN-AS1c.83523A>G (p.Ser27841=)
c.64608A>G (p.Ser21536=)
c.64407A>G (p.Ser21469=)
c.64032A>G (p.Ser21344=)
c.91227A>G (p.Ser30409=)
c.86304A>G (p.Ser28768=)
n.447-19627T>C
n.2043+9312T>C
c.90324A>G (p.Ser30108=)
c.64218A>G (p.Ser21406=)
c.64077A>G (p.Ser21359=)
c.90120A>G (p.Ser30040=)
c.85518A>G (p.Ser28506=)
c.85515A>G (p.Ser28505=)
c.82557A>G (p.Ser27519=)
c.64173A>G (p.Ser21391=)
c.85668A>G (p.Ser28556=)
c.85665A>G (p.Ser28555=)
c.85098A>G (p.Ser28366=)
c.82440A>G (p.Ser27480=)
c.82359A>G (p.Ser27453=)
c.64122A>G (p.Ser21374=)
c.53976A>G (p.Ser17992=)
2g.178551673T>GCA430104058TTN,TTN-AS1c.83523A>C (p.Ser27841=)
c.64608A>C (p.Ser21536=)
c.64407A>C (p.Ser21469=)
c.64032A>C (p.Ser21344=)
c.91227A>C (p.Ser30409=)
c.86304A>C (p.Ser28768=)
n.447-19627T>G
n.2043+9312T>G
c.90324A>C (p.Ser30108=)
c.64218A>C (p.Ser21406=)
c.64077A>C (p.Ser21359=)
c.90120A>C (p.Ser30040=)
c.85518A>C (p.Ser28506=)
c.85515A>C (p.Ser28505=)
c.82557A>C (p.Ser27519=)
c.64173A>C (p.Ser21391=)
c.85668A>C (p.Ser28556=)
c.85665A>C (p.Ser28555=)
c.85098A>C (p.Ser28366=)
c.82440A>C (p.Ser27480=)
c.82359A>C (p.Ser27453=)
c.64122A>C (p.Ser21374=)
c.53976A>C (p.Ser17992=)
2g.178551674G>ACA60977073TTN,TTN-AS1c.83522C>T (p.Ser27841Leu)
c.64607C>T (p.Ser21536Leu)
c.64406C>T (p.Ser21469Leu)
c.64031C>T (p.Ser21344Leu)
c.91226C>T (p.Ser30409Leu)
c.86303C>T (p.Ser28768Leu)
n.447-19626G>A
n.2043+9313G>A
c.90323C>T (p.Ser30108Leu)
c.64217C>T (p.Ser21406Leu)
c.64076C>T (p.Ser21359Leu)
c.90119C>T (p.Ser30040Leu)
c.85517C>T (p.Ser28506Leu)
c.85514C>T (p.Ser28505Leu)
c.82556C>T (p.Ser27519Leu)
c.64172C>T (p.Ser21391Leu)
c.85667C>T (p.Ser28556Leu)
c.85664C>T (p.Ser28555Leu)
c.85097C>T (p.Ser28366Leu)
c.82439C>T (p.Ser27480Leu)
c.82358C>T (p.Ser27453Leu)
c.64121C>T (p.Ser21374Leu)
c.53975C>T (p.Ser17992Leu)
 dbSNP
2g.178551674G>CCA349502838TTN,TTN-AS1c.83522C>G (p.Ser27841Ter)
c.64607C>G (p.Ser21536Ter)
c.64406C>G (p.Ser21469Ter)
c.64031C>G (p.Ser21344Ter)
c.91226C>G (p.Ser30409Ter)
c.86303C>G (p.Ser28768Ter)
n.447-19626G>C
n.2043+9313G>C
c.90323C>G (p.Ser30108Ter)
c.64217C>G (p.Ser21406Ter)
c.64076C>G (p.Ser21359Ter)
c.90119C>G (p.Ser30040Ter)
c.85517C>G (p.Ser28506Ter)
c.85514C>G (p.Ser28505Ter)
c.82556C>G (p.Ser27519Ter)
c.64172C>G (p.Ser21391Ter)
c.85667C>G (p.Ser28556Ter)
c.85664C>G (p.Ser28555Ter)
c.85097C>G (p.Ser28366Ter)
c.82439C>G (p.Ser27480Ter)
c.82358C>G (p.Ser27453Ter)
c.64121C>G (p.Ser21374Ter)
c.53975C>G (p.Ser17992Ter)
2g.178551674G=CA1310521140TTN,TTN-AS1c.83522C= (p.Ser27841=)
c.64607C= (p.Ser21536=)
c.64406C= (p.Ser21469=)
c.64031C= (p.Ser21344=)
c.91226C= (p.Ser30409=)
c.86303C= (p.Ser28768=)
n.447-19626G=
n.2043+9313G=
c.90323C= (p.Ser30108=)
c.64217C= (p.Ser21406=)
c.64076C= (p.Ser21359=)
c.90119C= (p.Ser30040=)
c.85517C= (p.Ser28506=)
c.85514C= (p.Ser28505=)
c.82556C= (p.Ser27519=)
c.64172C= (p.Ser21391=)
c.85667C= (p.Ser28556=)
c.85664C= (p.Ser28555=)
c.85097C= (p.Ser28366=)
c.82439C= (p.Ser27480=)
c.82358C= (p.Ser27453=)
c.64121C= (p.Ser21374=)
c.53975C= (p.Ser17992=)
2g.178551674G>TCA349502840TTN,TTN-AS1c.83522C>A (p.Ser27841Ter)
c.64607C>A (p.Ser21536Ter)
c.64406C>A (p.Ser21469Ter)
c.64031C>A (p.Ser21344Ter)
c.91226C>A (p.Ser30409Ter)
c.86303C>A (p.Ser28768Ter)
n.447-19626G>T
n.2043+9313G>T
c.90323C>A (p.Ser30108Ter)
c.64217C>A (p.Ser21406Ter)
c.64076C>A (p.Ser21359Ter)
c.90119C>A (p.Ser30040Ter)
c.85517C>A (p.Ser28506Ter)
c.85514C>A (p.Ser28505Ter)
c.82556C>A (p.Ser27519Ter)
c.64172C>A (p.Ser21391Ter)
c.85667C>A (p.Ser28556Ter)
c.85664C>A (p.Ser28555Ter)
c.85097C>A (p.Ser28366Ter)
c.82439C>A (p.Ser27480Ter)
c.82358C>A (p.Ser27453Ter)
c.64121C>A (p.Ser21374Ter)
c.53975C>A (p.Ser17992Ter)
2g.178551675A>CCA349502845TTN,TTN-AS1c.83521T>G (p.Ser27841Ala)
c.64606T>G (p.Ser21536Ala)
c.64405T>G (p.Ser21469Ala)
c.64030T>G (p.Ser21344Ala)
c.91225T>G (p.Ser30409Ala)
c.86302T>G (p.Ser28768Ala)
n.447-19625A>C
n.2043+9314A>C
c.90322T>G (p.Ser30108Ala)
c.64216T>G (p.Ser21406Ala)
c.64075T>G (p.Ser21359Ala)
c.90118T>G (p.Ser30040Ala)
c.85516T>G (p.Ser28506Ala)
c.85513T>G (p.Ser28505Ala)
c.82555T>G (p.Ser27519Ala)
c.64171T>G (p.Ser21391Ala)
c.85666T>G (p.Ser28556Ala)
c.85663T>G (p.Ser28555Ala)
c.85096T>G (p.Ser28366Ala)
c.82438T>G (p.Ser27480Ala)
c.82357T>G (p.Ser27453Ala)
c.64120T>G (p.Ser21374Ala)
c.53974T>G (p.Ser17992Ala)
2g.178551675A>GCA349502846TTN,TTN-AS1c.83521T>C (p.Ser27841Pro)
c.64606T>C (p.Ser21536Pro)
c.64405T>C (p.Ser21469Pro)
c.64030T>C (p.Ser21344Pro)
c.91225T>C (p.Ser30409Pro)
c.86302T>C (p.Ser28768Pro)
n.447-19625A>G
n.2043+9314A>G
c.90322T>C (p.Ser30108Pro)
c.64216T>C (p.Ser21406Pro)
c.64075T>C (p.Ser21359Pro)
c.90118T>C (p.Ser30040Pro)
c.85516T>C (p.Ser28506Pro)
c.85513T>C (p.Ser28505Pro)
c.82555T>C (p.Ser27519Pro)
c.64171T>C (p.Ser21391Pro)
c.85666T>C (p.Ser28556Pro)
c.85663T>C (p.Ser28555Pro)
c.85096T>C (p.Ser28366Pro)
c.82438T>C (p.Ser27480Pro)
c.82357T>C (p.Ser27453Pro)
c.64120T>C (p.Ser21374Pro)
c.53974T>C (p.Ser17992Pro)
2g.178551675A>TCA349502855TTN,TTN-AS1c.83521T>A (p.Ser27841Thr)
c.64606T>A (p.Ser21536Thr)
c.64405T>A (p.Ser21469Thr)
c.64030T>A (p.Ser21344Thr)
c.91225T>A (p.Ser30409Thr)
c.86302T>A (p.Ser28768Thr)
n.447-19625A>T
n.2043+9314A>T
c.90322T>A (p.Ser30108Thr)
c.64216T>A (p.Ser21406Thr)
c.64075T>A (p.Ser21359Thr)
c.90118T>A (p.Ser30040Thr)
c.85516T>A (p.Ser28506Thr)
c.85513T>A (p.Ser28505Thr)
c.82555T>A (p.Ser27519Thr)
c.64171T>A (p.Ser21391Thr)
c.85666T>A (p.Ser28556Thr)
c.85663T>A (p.Ser28555Thr)
c.85096T>A (p.Ser28366Thr)
c.82438T>A (p.Ser27480Thr)
c.82357T>A (p.Ser27453Thr)
c.64120T>A (p.Ser21374Thr)
c.53974T>A (p.Ser17992Thr)
2g.178551676G>ACA16603867TTN,TTN-AS1c.83520C>T (p.Ser27840=)
c.64605C>T (p.Ser21535=)
c.64404C>T (p.Ser21468=)
c.64029C>T (p.Ser21343=)
c.91224C>T (p.Ser30408=)
c.86301C>T (p.Ser28767=)
n.447-19624G>A
n.2043+9315G>A
c.90321C>T (p.Ser30107=)
c.64215C>T (p.Ser21405=)
c.64074C>T (p.Ser21358=)
c.90117C>T (p.Ser30039=)
c.85515C>T (p.Ser28505=)
c.85512C>T (p.Ser28504=)
c.82554C>T (p.Ser27518=)
c.64170C>T (p.Ser21390=)
c.85665C>T (p.Ser28555=)
c.85662C>T (p.Ser28554=)
c.85095C>T (p.Ser28365=)
c.82437C>T (p.Ser27479=)
c.82356C>T (p.Ser27452=)
c.64119C>T (p.Ser21373=)
c.53973C>T (p.Ser17991=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178551676G>CCA349502856TTN,TTN-AS1c.83520C>G (p.Ser27840Arg)
c.64605C>G (p.Ser21535Arg)
c.64404C>G (p.Ser21468Arg)
c.64029C>G (p.Ser21343Arg)
c.91224C>G (p.Ser30408Arg)
c.86301C>G (p.Ser28767Arg)
n.447-19624G>C
n.2043+9315G>C
c.90321C>G (p.Ser30107Arg)
c.64215C>G (p.Ser21405Arg)
c.64074C>G (p.Ser21358Arg)
c.90117C>G (p.Ser30039Arg)
c.85515C>G (p.Ser28505Arg)
c.85512C>G (p.Ser28504Arg)
c.82554C>G (p.Ser27518Arg)
c.64170C>G (p.Ser21390Arg)
c.85665C>G (p.Ser28555Arg)
c.85662C>G (p.Ser28554Arg)
c.85095C>G (p.Ser28365Arg)
c.82437C>G (p.Ser27479Arg)
c.82356C>G (p.Ser27452Arg)
c.64119C>G (p.Ser21373Arg)
c.53973C>G (p.Ser17991Arg)
2g.178551676G=CA1310521142TTN,TTN-AS1c.83520C= (p.Ser27840=)
c.64605C= (p.Ser21535=)
c.64404C= (p.Ser21468=)
c.64029C= (p.Ser21343=)
c.91224C= (p.Ser30408=)
c.86301C= (p.Ser28767=)
n.447-19624G=
n.2043+9315G=
c.90321C= (p.Ser30107=)
c.64215C= (p.Ser21405=)
c.64074C= (p.Ser21358=)
c.90117C= (p.Ser30039=)
c.85515C= (p.Ser28505=)
c.85512C= (p.Ser28504=)
c.82554C= (p.Ser27518=)
c.64170C= (p.Ser21390=)
c.85665C= (p.Ser28555=)
c.85662C= (p.Ser28554=)
c.85095C= (p.Ser28365=)
c.82437C= (p.Ser27479=)
c.82356C= (p.Ser27452=)
c.64119C= (p.Ser21373=)
c.53973C= (p.Ser17991=)
2g.178551676G>TCA349502857TTN,TTN-AS1c.83520C>A (p.Ser27840Arg)
c.64605C>A (p.Ser21535Arg)
c.64404C>A (p.Ser21468Arg)
c.64029C>A (p.Ser21343Arg)
c.91224C>A (p.Ser30408Arg)
c.86301C>A (p.Ser28767Arg)
n.447-19624G>T
n.2043+9315G>T
c.90321C>A (p.Ser30107Arg)
c.64215C>A (p.Ser21405Arg)
c.64074C>A (p.Ser21358Arg)
c.90117C>A (p.Ser30039Arg)
c.85515C>A (p.Ser28505Arg)
c.85512C>A (p.Ser28504Arg)
c.82554C>A (p.Ser27518Arg)
c.64170C>A (p.Ser21390Arg)
c.85665C>A (p.Ser28555Arg)
c.85662C>A (p.Ser28554Arg)
c.85095C>A (p.Ser28365Arg)
c.82437C>A (p.Ser27479Arg)
c.82356C>A (p.Ser27452Arg)
c.64119C>A (p.Ser21373Arg)
c.53973C>A (p.Ser17991Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178551677C>ACA349502862TTN,TTN-AS1c.83519G>T (p.Ser27840Ile)
c.64604G>T (p.Ser21535Ile)
c.64403G>T (p.Ser21468Ile)
c.64028G>T (p.Ser21343Ile)
c.91223G>T (p.Ser30408Ile)
c.86300G>T (p.Ser28767Ile)
n.447-19623C>A
n.2043+9316C>A
c.90320G>T (p.Ser30107Ile)
c.64214G>T (p.Ser21405Ile)
c.64073G>T (p.Ser21358Ile)
c.90116G>T (p.Ser30039Ile)
c.85514G>T (p.Ser28505Ile)
c.85511G>T (p.Ser28504Ile)
c.82553G>T (p.Ser27518Ile)
c.64169G>T (p.Ser21390Ile)
c.85664G>T (p.Ser28555Ile)
c.85661G>T (p.Ser28554Ile)
c.85094G>T (p.Ser28365Ile)
c.82436G>T (p.Ser27479Ile)
c.82355G>T (p.Ser27452Ile)
c.64118G>T (p.Ser21373Ile)
c.53972G>T (p.Ser17991Ile)
2g.178551677C>GCA349502863TTN,TTN-AS1c.83519G>C (p.Ser27840Thr)
c.64604G>C (p.Ser21535Thr)
c.64403G>C (p.Ser21468Thr)
c.64028G>C (p.Ser21343Thr)
c.91223G>C (p.Ser30408Thr)
c.86300G>C (p.Ser28767Thr)
n.447-19623C>G
n.2043+9316C>G
c.90320G>C (p.Ser30107Thr)
c.64214G>C (p.Ser21405Thr)
c.64073G>C (p.Ser21358Thr)
c.90116G>C (p.Ser30039Thr)
c.85514G>C (p.Ser28505Thr)
c.85511G>C (p.Ser28504Thr)
c.82553G>C (p.Ser27518Thr)
c.64169G>C (p.Ser21390Thr)
c.85664G>C (p.Ser28555Thr)
c.85661G>C (p.Ser28554Thr)
c.85094G>C (p.Ser28365Thr)
c.82436G>C (p.Ser27479Thr)
c.82355G>C (p.Ser27452Thr)
c.64118G>C (p.Ser21373Thr)
c.53972G>C (p.Ser17991Thr)
2g.178551677C>TCA349502860TTN,TTN-AS1c.83519G>A (p.Ser27840Asn)
c.64604G>A (p.Ser21535Asn)
c.64403G>A (p.Ser21468Asn)
c.64028G>A (p.Ser21343Asn)
c.91223G>A (p.Ser30408Asn)
c.86300G>A (p.Ser28767Asn)
n.447-19623C>T
n.2043+9316C>T
c.90320G>A (p.Ser30107Asn)
c.64214G>A (p.Ser21405Asn)
c.64073G>A (p.Ser21358Asn)
c.90116G>A (p.Ser30039Asn)
c.85514G>A (p.Ser28505Asn)
c.85511G>A (p.Ser28504Asn)
c.82553G>A (p.Ser27518Asn)
c.64169G>A (p.Ser21390Asn)
c.85664G>A (p.Ser28555Asn)
c.85661G>A (p.Ser28554Asn)
c.85094G>A (p.Ser28365Asn)
c.82436G>A (p.Ser27479Asn)
c.82355G>A (p.Ser27452Asn)
c.64118G>A (p.Ser21373Asn)
c.53972G>A (p.Ser17991Asn)
2g.178551678T>ACA349502872TTN,TTN-AS1c.83518A>T (p.Ser27840Cys)
c.64603A>T (p.Ser21535Cys)
c.64402A>T (p.Ser21468Cys)
c.64027A>T (p.Ser21343Cys)
c.91222A>T (p.Ser30408Cys)
c.86299A>T (p.Ser28767Cys)
n.447-19622T>A
n.2043+9317T>A
c.90319A>T (p.Ser30107Cys)
c.64213A>T (p.Ser21405Cys)
c.64072A>T (p.Ser21358Cys)
c.90115A>T (p.Ser30039Cys)
c.85513A>T (p.Ser28505Cys)
c.85510A>T (p.Ser28504Cys)
c.82552A>T (p.Ser27518Cys)
c.64168A>T (p.Ser21390Cys)
c.85663A>T (p.Ser28555Cys)
c.85660A>T (p.Ser28554Cys)
c.85093A>T (p.Ser28365Cys)
c.82435A>T (p.Ser27479Cys)
c.82354A>T (p.Ser27452Cys)
c.64117A>T (p.Ser21373Cys)
c.53971A>T (p.Ser17991Cys)
2g.178551678T>CCA349502866TTN,TTN-AS1c.83518A>G (p.Ser27840Gly)
c.64603A>G (p.Ser21535Gly)
c.64402A>G (p.Ser21468Gly)
c.64027A>G (p.Ser21343Gly)
c.91222A>G (p.Ser30408Gly)
c.86299A>G (p.Ser28767Gly)
n.447-19622T>C
n.2043+9317T>C
c.90319A>G (p.Ser30107Gly)
c.64213A>G (p.Ser21405Gly)
c.64072A>G (p.Ser21358Gly)
c.90115A>G (p.Ser30039Gly)
c.85513A>G (p.Ser28505Gly)
c.85510A>G (p.Ser28504Gly)
c.82552A>G (p.Ser27518Gly)
c.64168A>G (p.Ser21390Gly)
c.85663A>G (p.Ser28555Gly)
c.85660A>G (p.Ser28554Gly)
c.85093A>G (p.Ser28365Gly)
c.82435A>G (p.Ser27479Gly)
c.82354A>G (p.Ser27452Gly)
c.64117A>G (p.Ser21373Gly)
c.53971A>G (p.Ser17991Gly)
 gnomAD v4
2g.178551678T>GCA349502870TTN,TTN-AS1c.83518A>C (p.Ser27840Arg)
c.64603A>C (p.Ser21535Arg)
c.64402A>C (p.Ser21468Arg)
c.64027A>C (p.Ser21343Arg)
c.91222A>C (p.Ser30408Arg)
c.86299A>C (p.Ser28767Arg)
n.447-19622T>G
n.2043+9317T>G
c.90319A>C (p.Ser30107Arg)
c.64213A>C (p.Ser21405Arg)
c.64072A>C (p.Ser21358Arg)
c.90115A>C (p.Ser30039Arg)
c.85513A>C (p.Ser28505Arg)
c.85510A>C (p.Ser28504Arg)
c.82552A>C (p.Ser27518Arg)
c.64168A>C (p.Ser21390Arg)
c.85663A>C (p.Ser28555Arg)
c.85660A>C (p.Ser28554Arg)
c.85093A>C (p.Ser28365Arg)
c.82435A>C (p.Ser27479Arg)
c.82354A>C (p.Ser27452Arg)
c.64117A>C (p.Ser21373Arg)
c.53971A>C (p.Ser17991Arg)
 gnomAD v4
2g.178551679T>ACA430104065TTN,TTN-AS1c.83517A>T (p.Leu27839=)
c.64602A>T (p.Leu21534=)
c.64401A>T (p.Leu21467=)
c.64026A>T (p.Leu21342=)
c.91221A>T (p.Leu30407=)
c.86298A>T (p.Leu28766=)
n.447-19621T>A
n.2043+9318T>A
c.90318A>T (p.Leu30106=)
c.64212A>T (p.Leu21404=)
c.64071A>T (p.Leu21357=)
c.90114A>T (p.Leu30038=)
c.85512A>T (p.Leu28504=)
c.85509A>T (p.Leu28503=)
c.82551A>T (p.Leu27517=)
c.64167A>T (p.Leu21389=)
c.85662A>T (p.Leu28554=)
c.85659A>T (p.Leu28553=)
c.85092A>T (p.Leu28364=)
c.82434A>T (p.Leu27478=)
c.82353A>T (p.Leu27451=)
c.64116A>T (p.Leu21372=)
c.53970A>T (p.Leu17990=)
2g.178551679T>CCA430104066TTN,TTN-AS1c.83517A>G (p.Leu27839=)
c.64602A>G (p.Leu21534=)
c.64401A>G (p.Leu21467=)
c.64026A>G (p.Leu21342=)
c.91221A>G (p.Leu30407=)
c.86298A>G (p.Leu28766=)
n.447-19621T>C
n.2043+9318T>C
c.90318A>G (p.Leu30106=)
c.64212A>G (p.Leu21404=)
c.64071A>G (p.Leu21357=)
c.90114A>G (p.Leu30038=)
c.85512A>G (p.Leu28504=)
c.85509A>G (p.Leu28503=)
c.82551A>G (p.Leu27517=)
c.64167A>G (p.Leu21389=)
c.85662A>G (p.Leu28554=)
c.85659A>G (p.Leu28553=)
c.85092A>G (p.Leu28364=)
c.82434A>G (p.Leu27478=)
c.82353A>G (p.Leu27451=)
c.64116A>G (p.Leu21372=)
c.53970A>G (p.Leu17990=)
2g.178551679T>GCA430104067TTN,TTN-AS1c.83517A>C (p.Leu27839=)
c.64602A>C (p.Leu21534=)
c.64401A>C (p.Leu21467=)
c.64026A>C (p.Leu21342=)
c.91221A>C (p.Leu30407=)
c.86298A>C (p.Leu28766=)
n.447-19621T>G
n.2043+9318T>G
c.90318A>C (p.Leu30106=)
c.64212A>C (p.Leu21404=)
c.64071A>C (p.Leu21357=)
c.90114A>C (p.Leu30038=)
c.85512A>C (p.Leu28504=)
c.85509A>C (p.Leu28503=)
c.82551A>C (p.Leu27517=)
c.64167A>C (p.Leu21389=)
c.85662A>C (p.Leu28554=)
c.85659A>C (p.Leu28553=)
c.85092A>C (p.Leu28364=)
c.82434A>C (p.Leu27478=)
c.82353A>C (p.Leu27451=)
c.64116A>C (p.Leu21372=)
c.53970A>C (p.Leu17990=)
2g.178551680A=CA1310521143TTN,TTN-AS1c.83516T= (p.Leu27839=)
c.64601T= (p.Leu21534=)
c.64400T= (p.Leu21467=)
c.64025T= (p.Leu21342=)
c.91220T= (p.Leu30407=)
c.86297T= (p.Leu28766=)
n.447-19620A=
n.2043+9319A=
c.90317T= (p.Leu30106=)
c.64211T= (p.Leu21404=)
c.64070T= (p.Leu21357=)
c.90113T= (p.Leu30038=)
c.85511T= (p.Leu28504=)
c.85508T= (p.Leu28503=)
c.82550T= (p.Leu27517=)
c.64166T= (p.Leu21389=)
c.85661T= (p.Leu28554=)
c.85658T= (p.Leu28553=)
c.85091T= (p.Leu28364=)
c.82433T= (p.Leu27478=)
c.82352T= (p.Leu27451=)
c.64115T= (p.Leu21372=)
c.53969T= (p.Leu17990=)
2g.178551680A>CCA349502877TTN,TTN-AS1c.83516T>G (p.Leu27839Arg)
c.64601T>G (p.Leu21534Arg)
c.64400T>G (p.Leu21467Arg)
c.64025T>G (p.Leu21342Arg)
c.91220T>G (p.Leu30407Arg)
c.86297T>G (p.Leu28766Arg)
n.447-19620A>C
n.2043+9319A>C
c.90317T>G (p.Leu30106Arg)
c.64211T>G (p.Leu21404Arg)
c.64070T>G (p.Leu21357Arg)
c.90113T>G (p.Leu30038Arg)
c.85511T>G (p.Leu28504Arg)
c.85508T>G (p.Leu28503Arg)
c.82550T>G (p.Leu27517Arg)
c.64166T>G (p.Leu21389Arg)
c.85661T>G (p.Leu28554Arg)
c.85658T>G (p.Leu28553Arg)
c.85091T>G (p.Leu28364Arg)
c.82433T>G (p.Leu27478Arg)
c.82352T>G (p.Leu27451Arg)
c.64115T>G (p.Leu21372Arg)
c.53969T>G (p.Leu17990Arg)
2g.178551680A>GCA1987668TTN,TTN-AS1c.83516T>C (p.Leu27839Pro)
c.64601T>C (p.Leu21534Pro)
c.64400T>C (p.Leu21467Pro)
c.64025T>C (p.Leu21342Pro)
c.91220T>C (p.Leu30407Pro)
c.86297T>C (p.Leu28766Pro)
n.447-19620A>G
n.2043+9319A>G
c.90317T>C (p.Leu30106Pro)
c.64211T>C (p.Leu21404Pro)
c.64070T>C (p.Leu21357Pro)
c.90113T>C (p.Leu30038Pro)
c.85511T>C (p.Leu28504Pro)
c.85508T>C (p.Leu28503Pro)
c.82550T>C (p.Leu27517Pro)
c.64166T>C (p.Leu21389Pro)
c.85661T>C (p.Leu28554Pro)
c.85658T>C (p.Leu28553Pro)
c.85091T>C (p.Leu28364Pro)
c.82433T>C (p.Leu27478Pro)
c.82352T>C (p.Leu27451Pro)
c.64115T>C (p.Leu21372Pro)
c.53969T>C (p.Leu17990Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178551680A>TCA349502880TTN,TTN-AS1c.83516T>A (p.Leu27839Gln)
c.64601T>A (p.Leu21534Gln)
c.64400T>A (p.Leu21467Gln)
c.64025T>A (p.Leu21342Gln)
c.91220T>A (p.Leu30407Gln)
c.86297T>A (p.Leu28766Gln)
n.447-19620A>T
n.2043+9319A>T
c.90317T>A (p.Leu30106Gln)
c.64211T>A (p.Leu21404Gln)
c.64070T>A (p.Leu21357Gln)
c.90113T>A (p.Leu30038Gln)
c.85511T>A (p.Leu28504Gln)
c.85508T>A (p.Leu28503Gln)
c.82550T>A (p.Leu27517Gln)
c.64166T>A (p.Leu21389Gln)
c.85661T>A (p.Leu28554Gln)
c.85658T>A (p.Leu28553Gln)
c.85091T>A (p.Leu28364Gln)
c.82433T>A (p.Leu27478Gln)
c.82352T>A (p.Leu27451Gln)
c.64115T>A (p.Leu21372Gln)
c.53969T>A (p.Leu17990Gln)

Number of alleles fetched