Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527310_178527447delCA2753331151TTN,TTN-AS1c.99976+2_99977del
c.81061+2_81062del
c.80860+2_80861del
c.80485+2_80486del
c.107680+2_107681del
c.102757+2_102758del
n.446+3674_446+3811del
n.219+3674_219+3811del
c.106777+2_106778del
c.80671+2_80672del
c.80530+2_80531del
c.106573+2_106574del
c.101971+2_101972del
c.101968+2_101969del
c.99010+2_99011del
c.80626+2_80627del
c.102121+2_102122del
c.102118+2_102119del
c.101551+2_101552del
c.98893+2_98894del
c.98812+2_98813del
c.80575+2_80576del
c.70429+2_70430del
2g.178527435T>GCA2662122150TTN,TTN-AS1c.99976+11A>C (n.99976+11A>C)
c.81061+11A>C (n.81061+11A>C)
c.80860+11A>C (n.80860+11A>C)
c.80485+11A>C (n.80485+11A>C)
c.107680+11A>C (n.107680+11A>C)
c.102757+11A>C (n.102757+11A>C)
n.446+3799T>G
n.219+3799T>G
c.106777+11A>C (n.106777+11A>C)
c.80671+11A>C (n.80671+11A>C)
c.80530+11A>C (n.80530+11A>C)
c.106573+11A>C (n.106573+11A>C)
c.101971+11A>C (n.101971+11A>C)
c.101968+11A>C (n.101968+11A>C)
c.99010+11A>C (n.99010+11A>C)
c.80626+11A>C (n.80626+11A>C)
c.102121+11A>C (n.102121+11A>C)
c.102118+11A>C (n.102118+11A>C)
c.101551+11A>C (n.101551+11A>C)
c.98893+11A>C (n.98893+11A>C)
c.98812+11A>C (n.98812+11A>C)
c.80575+11A>C (n.80575+11A>C)
c.70429+11A>C (n.70429+11A>C)
 gnomAD v4
2g.178527436T>CCA538434929TTN,TTN-AS1c.99976+10A>G (n.99976+10A>G)
c.81061+10A>G (n.81061+10A>G)
c.80860+10A>G (n.80860+10A>G)
c.80485+10A>G (n.80485+10A>G)
c.107680+10A>G (n.107680+10A>G)
c.102757+10A>G (n.102757+10A>G)
n.446+3800T>C
n.219+3800T>C
c.106777+10A>G (n.106777+10A>G)
c.80671+10A>G (n.80671+10A>G)
c.80530+10A>G (n.80530+10A>G)
c.106573+10A>G (n.106573+10A>G)
c.101971+10A>G (n.101971+10A>G)
c.101968+10A>G (n.101968+10A>G)
c.99010+10A>G (n.99010+10A>G)
c.80626+10A>G (n.80626+10A>G)
c.102121+10A>G (n.102121+10A>G)
c.102118+10A>G (n.102118+10A>G)
c.101551+10A>G (n.101551+10A>G)
c.98893+10A>G (n.98893+10A>G)
c.98812+10A>G (n.98812+10A>G)
c.80575+10A>G (n.80575+10A>G)
c.70429+10A>G (n.70429+10A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178527436T=CA1310514472TTN,TTN-AS1c.99976+10A= (n.99976+10A=)
c.81061+10A= (n.81061+10A=)
c.80860+10A= (n.80860+10A=)
c.80485+10A= (n.80485+10A=)
c.107680+10A= (n.107680+10A=)
c.102757+10A= (n.102757+10A=)
n.446+3800T=
n.219+3800T=
c.106777+10A= (n.106777+10A=)
c.80671+10A= (n.80671+10A=)
c.80530+10A= (n.80530+10A=)
c.106573+10A= (n.106573+10A=)
c.101971+10A= (n.101971+10A=)
c.101968+10A= (n.101968+10A=)
c.99010+10A= (n.99010+10A=)
c.80626+10A= (n.80626+10A=)
c.102121+10A= (n.102121+10A=)
c.102118+10A= (n.102118+10A=)
c.101551+10A= (n.101551+10A=)
c.98893+10A= (n.98893+10A=)
c.98812+10A= (n.98812+10A=)
c.80575+10A= (n.80575+10A=)
c.70429+10A= (n.70429+10A=)
2g.178527437A=CA1310514473TTN,TTN-AS1c.99976+9T= (n.99976+9T=)
c.81061+9T= (n.81061+9T=)
c.80860+9T= (n.80860+9T=)
c.80485+9T= (n.80485+9T=)
c.107680+9T= (n.107680+9T=)
c.102757+9T= (n.102757+9T=)
n.446+3801A=
n.219+3801A=
c.106777+9T= (n.106777+9T=)
c.80671+9T= (n.80671+9T=)
c.80530+9T= (n.80530+9T=)
c.106573+9T= (n.106573+9T=)
c.101971+9T= (n.101971+9T=)
c.101968+9T= (n.101968+9T=)
c.99010+9T= (n.99010+9T=)
c.80626+9T= (n.80626+9T=)
c.102121+9T= (n.102121+9T=)
c.102118+9T= (n.102118+9T=)
c.101551+9T= (n.101551+9T=)
c.98893+9T= (n.98893+9T=)
c.98812+9T= (n.98812+9T=)
c.80575+9T= (n.80575+9T=)
c.70429+9T= (n.70429+9T=)
2g.178527437A>GCA1984911TTN,TTN-AS1c.99976+9T>C (n.99976+9T>C)
c.81061+9T>C (n.81061+9T>C)
c.80860+9T>C (n.80860+9T>C)
c.80485+9T>C (n.80485+9T>C)
c.107680+9T>C (n.107680+9T>C)
c.102757+9T>C (n.102757+9T>C)
n.446+3801A>G
n.219+3801A>G
c.106777+9T>C (n.106777+9T>C)
c.80671+9T>C (n.80671+9T>C)
c.80530+9T>C (n.80530+9T>C)
c.106573+9T>C (n.106573+9T>C)
c.101971+9T>C (n.101971+9T>C)
c.101968+9T>C (n.101968+9T>C)
c.99010+9T>C (n.99010+9T>C)
c.80626+9T>C (n.80626+9T>C)
c.102121+9T>C (n.102121+9T>C)
c.102118+9T>C (n.102118+9T>C)
c.101551+9T>C (n.101551+9T>C)
c.98893+9T>C (n.98893+9T>C)
c.98812+9T>C (n.98812+9T>C)
c.80575+9T>C (n.80575+9T>C)
c.70429+9T>C (n.70429+9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527438T>CCA1984912TTN,TTN-AS1c.99976+8A>G (n.99976+8A>G)
c.81061+8A>G (n.81061+8A>G)
c.80860+8A>G (n.80860+8A>G)
c.80485+8A>G (n.80485+8A>G)
c.107680+8A>G (n.107680+8A>G)
c.102757+8A>G (n.102757+8A>G)
n.446+3802T>C
n.219+3802T>C
c.106777+8A>G (n.106777+8A>G)
c.80671+8A>G (n.80671+8A>G)
c.80530+8A>G (n.80530+8A>G)
c.106573+8A>G (n.106573+8A>G)
c.101971+8A>G (n.101971+8A>G)
c.101968+8A>G (n.101968+8A>G)
c.99010+8A>G (n.99010+8A>G)
c.80626+8A>G (n.80626+8A>G)
c.102121+8A>G (n.102121+8A>G)
c.102118+8A>G (n.102118+8A>G)
c.101551+8A>G (n.101551+8A>G)
c.98893+8A>G (n.98893+8A>G)
c.98812+8A>G (n.98812+8A>G)
c.80575+8A>G (n.80575+8A>G)
c.70429+8A>G (n.70429+8A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527438T=CA1310514474TTN,TTN-AS1c.99976+8A= (n.99976+8A=)
c.81061+8A= (n.81061+8A=)
c.80860+8A= (n.80860+8A=)
c.80485+8A= (n.80485+8A=)
c.107680+8A= (n.107680+8A=)
c.102757+8A= (n.102757+8A=)
n.446+3802T=
n.219+3802T=
c.106777+8A= (n.106777+8A=)
c.80671+8A= (n.80671+8A=)
c.80530+8A= (n.80530+8A=)
c.106573+8A= (n.106573+8A=)
c.101971+8A= (n.101971+8A=)
c.101968+8A= (n.101968+8A=)
c.99010+8A= (n.99010+8A=)
c.80626+8A= (n.80626+8A=)
c.102121+8A= (n.102121+8A=)
c.102118+8A= (n.102118+8A=)
c.101551+8A= (n.101551+8A=)
c.98893+8A= (n.98893+8A=)
c.98812+8A= (n.98812+8A=)
c.80575+8A= (n.80575+8A=)
c.70429+8A= (n.70429+8A=)
2g.178527440G>CCA2577170189TTN,TTN-AS1c.99976+6C>G (n.99976+6C>G)
c.81061+6C>G (n.81061+6C>G)
c.80860+6C>G (n.80860+6C>G)
c.80485+6C>G (n.80485+6C>G)
c.107680+6C>G (n.107680+6C>G)
c.102757+6C>G (n.102757+6C>G)
n.446+3804G>C
n.219+3804G>C
c.106777+6C>G (n.106777+6C>G)
c.80671+6C>G (n.80671+6C>G)
c.80530+6C>G (n.80530+6C>G)
c.106573+6C>G (n.106573+6C>G)
c.101971+6C>G (n.101971+6C>G)
c.101968+6C>G (n.101968+6C>G)
c.99010+6C>G (n.99010+6C>G)
c.80626+6C>G (n.80626+6C>G)
c.102121+6C>G (n.102121+6C>G)
c.102118+6C>G (n.102118+6C>G)
c.101551+6C>G (n.101551+6C>G)
c.98893+6C>G (n.98893+6C>G)
c.98812+6C>G (n.98812+6C>G)
c.80575+6C>G (n.80575+6C>G)
c.70429+6C>G (n.70429+6C>G)
2g.178527441C=CA1310514475TTN,TTN-AS1c.99976+5G= (n.99976+5G=)
c.81061+5G= (n.81061+5G=)
c.80860+5G= (n.80860+5G=)
c.80485+5G= (n.80485+5G=)
c.107680+5G= (n.107680+5G=)
c.102757+5G= (n.102757+5G=)
n.446+3805C=
n.219+3805C=
c.106777+5G= (n.106777+5G=)
c.80671+5G= (n.80671+5G=)
c.80530+5G= (n.80530+5G=)
c.106573+5G= (n.106573+5G=)
c.101971+5G= (n.101971+5G=)
c.101968+5G= (n.101968+5G=)
c.99010+5G= (n.99010+5G=)
c.80626+5G= (n.80626+5G=)
c.102121+5G= (n.102121+5G=)
c.102118+5G= (n.102118+5G=)
c.101551+5G= (n.101551+5G=)
c.98893+5G= (n.98893+5G=)
c.98812+5G= (n.98812+5G=)
c.80575+5G= (n.80575+5G=)
c.70429+5G= (n.70429+5G=)
2g.178527441C>TCA761282055TTN,TTN-AS1c.99976+5G>A (n.99976+5G>A)
c.81061+5G>A (n.81061+5G>A)
c.80860+5G>A (n.80860+5G>A)
c.80485+5G>A (n.80485+5G>A)
c.107680+5G>A (n.107680+5G>A)
c.102757+5G>A (n.102757+5G>A)
n.446+3805C>T
n.219+3805C>T
c.106777+5G>A (n.106777+5G>A)
c.80671+5G>A (n.80671+5G>A)
c.80530+5G>A (n.80530+5G>A)
c.106573+5G>A (n.106573+5G>A)
c.101971+5G>A (n.101971+5G>A)
c.101968+5G>A (n.101968+5G>A)
c.99010+5G>A (n.99010+5G>A)
c.80626+5G>A (n.80626+5G>A)
c.102121+5G>A (n.102121+5G>A)
c.102118+5G>A (n.102118+5G>A)
c.101551+5G>A (n.101551+5G>A)
c.98893+5G>A (n.98893+5G>A)
c.98812+5G>A (n.98812+5G>A)
c.80575+5G>A (n.80575+5G>A)
c.70429+5G>A (n.70429+5G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.178527442T>CCA2662122168TTN,TTN-AS1c.99976+4A>G (n.99976+4A>G)
c.81061+4A>G (n.81061+4A>G)
c.80860+4A>G (n.80860+4A>G)
c.80485+4A>G (n.80485+4A>G)
c.107680+4A>G (n.107680+4A>G)
c.102757+4A>G (n.102757+4A>G)
n.446+3806T>C
n.219+3806T>C
c.106777+4A>G (n.106777+4A>G)
c.80671+4A>G (n.80671+4A>G)
c.80530+4A>G (n.80530+4A>G)
c.106573+4A>G (n.106573+4A>G)
c.101971+4A>G (n.101971+4A>G)
c.101968+4A>G (n.101968+4A>G)
c.99010+4A>G (n.99010+4A>G)
c.80626+4A>G (n.80626+4A>G)
c.102121+4A>G (n.102121+4A>G)
c.102118+4A>G (n.102118+4A>G)
c.101551+4A>G (n.101551+4A>G)
c.98893+4A>G (n.98893+4A>G)
c.98812+4A>G (n.98812+4A>G)
c.80575+4A>G (n.80575+4A>G)
c.70429+4A>G (n.70429+4A>G)
 gnomAD v4
2g.178527442T>GCA2580064614TTN,TTN-AS1c.99976+4A>C (n.99976+4A>C)
c.81061+4A>C (n.81061+4A>C)
c.80860+4A>C (n.80860+4A>C)
c.80485+4A>C (n.80485+4A>C)
c.107680+4A>C (n.107680+4A>C)
c.102757+4A>C (n.102757+4A>C)
n.446+3806T>G
n.219+3806T>G
c.106777+4A>C (n.106777+4A>C)
c.80671+4A>C (n.80671+4A>C)
c.80530+4A>C (n.80530+4A>C)
c.106573+4A>C (n.106573+4A>C)
c.101971+4A>C (n.101971+4A>C)
c.101968+4A>C (n.101968+4A>C)
c.99010+4A>C (n.99010+4A>C)
c.80626+4A>C (n.80626+4A>C)
c.102121+4A>C (n.102121+4A>C)
c.102118+4A>C (n.102118+4A>C)
c.101551+4A>C (n.101551+4A>C)
c.98893+4A>C (n.98893+4A>C)
c.98812+4A>C (n.98812+4A>C)
c.80575+4A>C (n.80575+4A>C)
c.70429+4A>C (n.70429+4A>C)
 ClinVar gnomAD v4
2g.178527444A>CCA349399692TTN,TTN-AS1c.99976+2T>G (n.99976+2T>G)
c.81061+2T>G (n.81061+2T>G)
c.80860+2T>G (n.80860+2T>G)
c.80485+2T>G (n.80485+2T>G)
c.107680+2T>G (n.107680+2T>G)
c.102757+2T>G (n.102757+2T>G)
n.446+3808A>C
n.219+3808A>C
c.106777+2T>G (n.106777+2T>G)
c.80671+2T>G (n.80671+2T>G)
c.80530+2T>G (n.80530+2T>G)
c.106573+2T>G (n.106573+2T>G)
c.101971+2T>G (n.101971+2T>G)
c.101968+2T>G (n.101968+2T>G)
c.99010+2T>G (n.99010+2T>G)
c.80626+2T>G (n.80626+2T>G)
c.102121+2T>G (n.102121+2T>G)
c.102118+2T>G (n.102118+2T>G)
c.101551+2T>G (n.101551+2T>G)
c.98893+2T>G (n.98893+2T>G)
c.98812+2T>G (n.98812+2T>G)
c.80575+2T>G (n.80575+2T>G)
c.70429+2T>G (n.70429+2T>G)
 gnomAD v4
2g.178527444A>GCA349399694TTN,TTN-AS1c.99976+2T>C (n.99976+2T>C)
c.81061+2T>C (n.81061+2T>C)
c.80860+2T>C (n.80860+2T>C)
c.80485+2T>C (n.80485+2T>C)
c.107680+2T>C (n.107680+2T>C)
c.102757+2T>C (n.102757+2T>C)
n.446+3808A>G
n.219+3808A>G
c.106777+2T>C (n.106777+2T>C)
c.80671+2T>C (n.80671+2T>C)
c.80530+2T>C (n.80530+2T>C)
c.106573+2T>C (n.106573+2T>C)
c.101971+2T>C (n.101971+2T>C)
c.101968+2T>C (n.101968+2T>C)
c.99010+2T>C (n.99010+2T>C)
c.80626+2T>C (n.80626+2T>C)
c.102121+2T>C (n.102121+2T>C)
c.102118+2T>C (n.102118+2T>C)
c.101551+2T>C (n.101551+2T>C)
c.98893+2T>C (n.98893+2T>C)
c.98812+2T>C (n.98812+2T>C)
c.80575+2T>C (n.80575+2T>C)
c.70429+2T>C (n.70429+2T>C)
2g.178527444A>TCA349399695TTN,TTN-AS1c.99976+2T>A (n.99976+2T>A)
c.81061+2T>A (n.81061+2T>A)
c.80860+2T>A (n.80860+2T>A)
c.80485+2T>A (n.80485+2T>A)
c.107680+2T>A (n.107680+2T>A)
c.102757+2T>A (n.102757+2T>A)
n.446+3808A>T
n.219+3808A>T
c.106777+2T>A (n.106777+2T>A)
c.80671+2T>A (n.80671+2T>A)
c.80530+2T>A (n.80530+2T>A)
c.106573+2T>A (n.106573+2T>A)
c.101971+2T>A (n.101971+2T>A)
c.101968+2T>A (n.101968+2T>A)
c.99010+2T>A (n.99010+2T>A)
c.80626+2T>A (n.80626+2T>A)
c.102121+2T>A (n.102121+2T>A)
c.102118+2T>A (n.102118+2T>A)
c.101551+2T>A (n.101551+2T>A)
c.98893+2T>A (n.98893+2T>A)
c.98812+2T>A (n.98812+2T>A)
c.80575+2T>A (n.80575+2T>A)
c.70429+2T>A (n.70429+2T>A)
2g.178527445C>ACA349399697TTN,TTN-AS1c.99976+1G>T (n.99976+1G>T)
c.81061+1G>T (n.81061+1G>T)
c.80860+1G>T (n.80860+1G>T)
c.80485+1G>T (n.80485+1G>T)
c.107680+1G>T (n.107680+1G>T)
c.102757+1G>T (n.102757+1G>T)
n.446+3809C>A
n.219+3809C>A
c.106777+1G>T (n.106777+1G>T)
c.80671+1G>T (n.80671+1G>T)
c.80530+1G>T (n.80530+1G>T)
c.106573+1G>T (n.106573+1G>T)
c.101971+1G>T (n.101971+1G>T)
c.101968+1G>T (n.101968+1G>T)
c.99010+1G>T (n.99010+1G>T)
c.80626+1G>T (n.80626+1G>T)
c.102121+1G>T (n.102121+1G>T)
c.102118+1G>T (n.102118+1G>T)
c.101551+1G>T (n.101551+1G>T)
c.98893+1G>T (n.98893+1G>T)
c.98812+1G>T (n.98812+1G>T)
c.80575+1G>T (n.80575+1G>T)
c.70429+1G>T (n.70429+1G>T)
2g.178527445C>GCA349399698TTN,TTN-AS1c.99976+1G>C (n.99976+1G>C)
c.81061+1G>C (n.81061+1G>C)
c.80860+1G>C (n.80860+1G>C)
c.80485+1G>C (n.80485+1G>C)
c.107680+1G>C (n.107680+1G>C)
c.102757+1G>C (n.102757+1G>C)
n.446+3809C>G
n.219+3809C>G
c.106777+1G>C (n.106777+1G>C)
c.80671+1G>C (n.80671+1G>C)
c.80530+1G>C (n.80530+1G>C)
c.106573+1G>C (n.106573+1G>C)
c.101971+1G>C (n.101971+1G>C)
c.101968+1G>C (n.101968+1G>C)
c.99010+1G>C (n.99010+1G>C)
c.80626+1G>C (n.80626+1G>C)
c.102121+1G>C (n.102121+1G>C)
c.102118+1G>C (n.102118+1G>C)
c.101551+1G>C (n.101551+1G>C)
c.98893+1G>C (n.98893+1G>C)
c.98812+1G>C (n.98812+1G>C)
c.80575+1G>C (n.80575+1G>C)
c.70429+1G>C (n.70429+1G>C)
2g.178527445C>TCA349399699TTN,TTN-AS1c.99976+1G>A (n.99976+1G>A)
c.81061+1G>A (n.81061+1G>A)
c.80860+1G>A (n.80860+1G>A)
c.80485+1G>A (n.80485+1G>A)
c.107680+1G>A (n.107680+1G>A)
c.102757+1G>A (n.102757+1G>A)
n.446+3809C>T
n.219+3809C>T
c.106777+1G>A (n.106777+1G>A)
c.80671+1G>A (n.80671+1G>A)
c.80530+1G>A (n.80530+1G>A)
c.106573+1G>A (n.106573+1G>A)
c.101971+1G>A (n.101971+1G>A)
c.101968+1G>A (n.101968+1G>A)
c.99010+1G>A (n.99010+1G>A)
c.80626+1G>A (n.80626+1G>A)
c.102121+1G>A (n.102121+1G>A)
c.102118+1G>A (n.102118+1G>A)
c.101551+1G>A (n.101551+1G>A)
c.98893+1G>A (n.98893+1G>A)
c.98812+1G>A (n.98812+1G>A)
c.80575+1G>A (n.80575+1G>A)
c.70429+1G>A (n.70429+1G>A)
2g.178527446C>ACA349399703TTN,TTN-AS1c.99976G>T (p.Gly33326Ter)
c.81061G>T (p.Gly27021Ter)
c.80860G>T (p.Gly26954Ter)
c.80485G>T (p.Gly26829Ter)
c.107680G>T (p.Gly35894Ter)
c.102757G>T (p.Gly34253Ter)
n.446+3810C>A
n.219+3810C>A
c.106777G>T (p.Gly35593Ter)
c.80671G>T (p.Gly26891Ter)
c.80530G>T (p.Gly26844Ter)
c.106573G>T (p.Gly35525Ter)
c.101971G>T (p.Gly33991Ter)
c.101968G>T (p.Gly33990Ter)
c.99010G>T (p.Gly33004Ter)
c.80626G>T (p.Gly26876Ter)
c.102121G>T (p.Gly34041Ter)
c.102118G>T (p.Gly34040Ter)
c.101551G>T (p.Gly33851Ter)
c.98893G>T (p.Gly32965Ter)
c.98812G>T (p.Gly32938Ter)
c.80575G>T (p.Gly26859Ter)
c.70429G>T (p.Gly23477Ter)
2g.178527446C>GCA349399700TTN,TTN-AS1c.99976G>C (p.Gly33326Arg)
c.81061G>C (p.Gly27021Arg)
c.80860G>C (p.Gly26954Arg)
c.80485G>C (p.Gly26829Arg)
c.107680G>C (p.Gly35894Arg)
c.102757G>C (p.Gly34253Arg)
n.446+3810C>G
n.219+3810C>G
c.106777G>C (p.Gly35593Arg)
c.80671G>C (p.Gly26891Arg)
c.80530G>C (p.Gly26844Arg)
c.106573G>C (p.Gly35525Arg)
c.101971G>C (p.Gly33991Arg)
c.101968G>C (p.Gly33990Arg)
c.99010G>C (p.Gly33004Arg)
c.80626G>C (p.Gly26876Arg)
c.102121G>C (p.Gly34041Arg)
c.102118G>C (p.Gly34040Arg)
c.101551G>C (p.Gly33851Arg)
c.98893G>C (p.Gly32965Arg)
c.98812G>C (p.Gly32938Arg)
c.80575G>C (p.Gly26859Arg)
c.70429G>C (p.Gly23477Arg)
2g.178527446C>TCA349399701TTN,TTN-AS1c.99976G>A (p.Gly33326Arg)
c.81061G>A (p.Gly27021Arg)
c.80860G>A (p.Gly26954Arg)
c.80485G>A (p.Gly26829Arg)
c.107680G>A (p.Gly35894Arg)
c.102757G>A (p.Gly34253Arg)
n.446+3810C>T
n.219+3810C>T
c.106777G>A (p.Gly35593Arg)
c.80671G>A (p.Gly26891Arg)
c.80530G>A (p.Gly26844Arg)
c.106573G>A (p.Gly35525Arg)
c.101971G>A (p.Gly33991Arg)
c.101968G>A (p.Gly33990Arg)
c.99010G>A (p.Gly33004Arg)
c.80626G>A (p.Gly26876Arg)
c.102121G>A (p.Gly34041Arg)
c.102118G>A (p.Gly34040Arg)
c.101551G>A (p.Gly33851Arg)
c.98893G>A (p.Gly32965Arg)
c.98812G>A (p.Gly32938Arg)
c.80575G>A (p.Gly26859Arg)
c.70429G>A (p.Gly23477Arg)
2g.178527447T>ACA1984913TTN,TTN-AS1c.99975A>T (p.Arg33325Ser)
c.81060A>T (p.Arg27020Ser)
c.80859A>T (p.Arg26953Ser)
c.80484A>T (p.Arg26828Ser)
c.107679A>T (p.Arg35893Ser)
c.102756A>T (p.Arg34252Ser)
n.446+3811T>A
n.219+3811T>A
c.106776A>T (p.Arg35592Ser)
c.80670A>T (p.Arg26890Ser)
c.80529A>T (p.Arg26843Ser)
c.106572A>T (p.Arg35524Ser)
c.101970A>T (p.Arg33990Ser)
c.101967A>T (p.Arg33989Ser)
c.99009A>T (p.Arg33003Ser)
c.80625A>T (p.Arg26875Ser)
c.102120A>T (p.Arg34040Ser)
c.102117A>T (p.Arg34039Ser)
c.101550A>T (p.Arg33850Ser)
c.98892A>T (p.Arg32964Ser)
c.98811A>T (p.Arg32937Ser)
c.80574A>T (p.Arg26858Ser)
c.70428A>T (p.Arg23476Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.178527447T>CCA430234091TTN,TTN-AS1c.99975A>G (p.Arg33325=)
c.81060A>G (p.Arg27020=)
c.80859A>G (p.Arg26953=)
c.80484A>G (p.Arg26828=)
c.107679A>G (p.Arg35893=)
c.102756A>G (p.Arg34252=)
n.446+3811T>C
n.219+3811T>C
c.106776A>G (p.Arg35592=)
c.80670A>G (p.Arg26890=)
c.80529A>G (p.Arg26843=)
c.106572A>G (p.Arg35524=)
c.101970A>G (p.Arg33990=)
c.101967A>G (p.Arg33989=)
c.99009A>G (p.Arg33003=)
c.80625A>G (p.Arg26875=)
c.102120A>G (p.Arg34040=)
c.102117A>G (p.Arg34039=)
c.101550A>G (p.Arg33850=)
c.98892A>G (p.Arg32964=)
c.98811A>G (p.Arg32937=)
c.80574A>G (p.Arg26858=)
c.70428A>G (p.Arg23476=)
2g.178527447T>GCA349399705TTN,TTN-AS1c.99975A>C (p.Arg33325Ser)
c.81060A>C (p.Arg27020Ser)
c.80859A>C (p.Arg26953Ser)
c.80484A>C (p.Arg26828Ser)
c.107679A>C (p.Arg35893Ser)
c.102756A>C (p.Arg34252Ser)
n.446+3811T>G
n.219+3811T>G
c.106776A>C (p.Arg35592Ser)
c.80670A>C (p.Arg26890Ser)
c.80529A>C (p.Arg26843Ser)
c.106572A>C (p.Arg35524Ser)
c.101970A>C (p.Arg33990Ser)
c.101967A>C (p.Arg33989Ser)
c.99009A>C (p.Arg33003Ser)
c.80625A>C (p.Arg26875Ser)
c.102120A>C (p.Arg34040Ser)
c.102117A>C (p.Arg34039Ser)
c.101550A>C (p.Arg33850Ser)
c.98892A>C (p.Arg32964Ser)
c.98811A>C (p.Arg32937Ser)
c.80574A>C (p.Arg26858Ser)
c.70428A>C (p.Arg23476Ser)
2g.178527447T=CA1310514476TTN,TTN-AS1c.99975A= (p.Arg33325=)
c.81060A= (p.Arg27020=)
c.80859A= (p.Arg26953=)
c.80484A= (p.Arg26828=)
c.107679A= (p.Arg35893=)
c.102756A= (p.Arg34252=)
n.446+3811T=
n.219+3811T=
c.106776A= (p.Arg35592=)
c.80670A= (p.Arg26890=)
c.80529A= (p.Arg26843=)
c.106572A= (p.Arg35524=)
c.101970A= (p.Arg33990=)
c.101967A= (p.Arg33989=)
c.99009A= (p.Arg33003=)
c.80625A= (p.Arg26875=)
c.102120A= (p.Arg34040=)
c.102117A= (p.Arg34039=)
c.101550A= (p.Arg33850=)
c.98892A= (p.Arg32964=)
c.98811A= (p.Arg32937=)
c.80574A= (p.Arg26858=)
c.70428A= (p.Arg23476=)
2g.178527448C>ACA349399706TTN,TTN-AS1c.99974G>T (p.Arg33325Ile)
c.81059G>T (p.Arg27020Ile)
c.80858G>T (p.Arg26953Ile)
c.80483G>T (p.Arg26828Ile)
c.107678G>T (p.Arg35893Ile)
c.102755G>T (p.Arg34252Ile)
n.446+3812C>A
n.219+3812C>A
c.106775G>T (p.Arg35592Ile)
c.80669G>T (p.Arg26890Ile)
c.80528G>T (p.Arg26843Ile)
c.106571G>T (p.Arg35524Ile)
c.101969G>T (p.Arg33990Ile)
c.101966G>T (p.Arg33989Ile)
c.99008G>T (p.Arg33003Ile)
c.80624G>T (p.Arg26875Ile)
c.102119G>T (p.Arg34040Ile)
c.102116G>T (p.Arg34039Ile)
c.101549G>T (p.Arg33850Ile)
c.98891G>T (p.Arg32964Ile)
c.98810G>T (p.Arg32937Ile)
c.80573G>T (p.Arg26858Ile)
c.70427G>T (p.Arg23476Ile)
2g.178527448C=CA1310514477TTN,TTN-AS1c.99974G= (p.Arg33325=)
c.81059G= (p.Arg27020=)
c.80858G= (p.Arg26953=)
c.80483G= (p.Arg26828=)
c.107678G= (p.Arg35893=)
c.102755G= (p.Arg34252=)
n.446+3812C=
n.219+3812C=
c.106775G= (p.Arg35592=)
c.80669G= (p.Arg26890=)
c.80528G= (p.Arg26843=)
c.106571G= (p.Arg35524=)
c.101969G= (p.Arg33990=)
c.101966G= (p.Arg33989=)
c.99008G= (p.Arg33003=)
c.80624G= (p.Arg26875=)
c.102119G= (p.Arg34040=)
c.102116G= (p.Arg34039=)
c.101549G= (p.Arg33850=)
c.98891G= (p.Arg32964=)
c.98810G= (p.Arg32937=)
c.80573G= (p.Arg26858=)
c.70427G= (p.Arg23476=)
2g.178527448C>GCA349399708TTN,TTN-AS1c.99974G>C (p.Arg33325Thr)
c.81059G>C (p.Arg27020Thr)
c.80858G>C (p.Arg26953Thr)
c.80483G>C (p.Arg26828Thr)
c.107678G>C (p.Arg35893Thr)
c.102755G>C (p.Arg34252Thr)
n.446+3812C>G
n.219+3812C>G
c.106775G>C (p.Arg35592Thr)
c.80669G>C (p.Arg26890Thr)
c.80528G>C (p.Arg26843Thr)
c.106571G>C (p.Arg35524Thr)
c.101969G>C (p.Arg33990Thr)
c.101966G>C (p.Arg33989Thr)
c.99008G>C (p.Arg33003Thr)
c.80624G>C (p.Arg26875Thr)
c.102119G>C (p.Arg34040Thr)
c.102116G>C (p.Arg34039Thr)
c.101549G>C (p.Arg33850Thr)
c.98891G>C (p.Arg32964Thr)
c.98810G>C (p.Arg32937Thr)
c.80573G>C (p.Arg26858Thr)
c.70427G>C (p.Arg23476Thr)
 dbSNP gnomAD v4
2g.178527448C>TCA349399709TTN,TTN-AS1c.99974G>A (p.Arg33325Lys)
c.81059G>A (p.Arg27020Lys)
c.80858G>A (p.Arg26953Lys)
c.80483G>A (p.Arg26828Lys)
c.107678G>A (p.Arg35893Lys)
c.102755G>A (p.Arg34252Lys)
n.446+3812C>T
n.219+3812C>T
c.106775G>A (p.Arg35592Lys)
c.80669G>A (p.Arg26890Lys)
c.80528G>A (p.Arg26843Lys)
c.106571G>A (p.Arg35524Lys)
c.101969G>A (p.Arg33990Lys)
c.101966G>A (p.Arg33989Lys)
c.99008G>A (p.Arg33003Lys)
c.80624G>A (p.Arg26875Lys)
c.102119G>A (p.Arg34040Lys)
c.102116G>A (p.Arg34039Lys)
c.101549G>A (p.Arg33850Lys)
c.98891G>A (p.Arg32964Lys)
c.98810G>A (p.Arg32937Lys)
c.80573G>A (p.Arg26858Lys)
c.70427G>A (p.Arg23476Lys)
2g.178527449T>ACA349399710TTN,TTN-AS1c.99973A>T (p.Arg33325Ter)
c.81058A>T (p.Arg27020Ter)
c.80857A>T (p.Arg26953Ter)
c.80482A>T (p.Arg26828Ter)
c.107677A>T (p.Arg35893Ter)
c.102754A>T (p.Arg34252Ter)
n.446+3813T>A
n.219+3813T>A
c.106774A>T (p.Arg35592Ter)
c.80668A>T (p.Arg26890Ter)
c.80527A>T (p.Arg26843Ter)
c.106570A>T (p.Arg35524Ter)
c.101968A>T (p.Arg33990Ter)
c.101965A>T (p.Arg33989Ter)
c.99007A>T (p.Arg33003Ter)
c.80623A>T (p.Arg26875Ter)
c.102118A>T (p.Arg34040Ter)
c.102115A>T (p.Arg34039Ter)
c.101548A>T (p.Arg33850Ter)
c.98890A>T (p.Arg32964Ter)
c.98809A>T (p.Arg32937Ter)
c.80572A>T (p.Arg26858Ter)
c.70426A>T (p.Arg23476Ter)
2g.178527449T>CCA349399712TTN,TTN-AS1c.99973A>G (p.Arg33325Gly)
c.81058A>G (p.Arg27020Gly)
c.80857A>G (p.Arg26953Gly)
c.80482A>G (p.Arg26828Gly)
c.107677A>G (p.Arg35893Gly)
c.102754A>G (p.Arg34252Gly)
n.446+3813T>C
n.219+3813T>C
c.106774A>G (p.Arg35592Gly)
c.80668A>G (p.Arg26890Gly)
c.80527A>G (p.Arg26843Gly)
c.106570A>G (p.Arg35524Gly)
c.101968A>G (p.Arg33990Gly)
c.101965A>G (p.Arg33989Gly)
c.99007A>G (p.Arg33003Gly)
c.80623A>G (p.Arg26875Gly)
c.102118A>G (p.Arg34040Gly)
c.102115A>G (p.Arg34039Gly)
c.101548A>G (p.Arg33850Gly)
c.98890A>G (p.Arg32964Gly)
c.98809A>G (p.Arg32937Gly)
c.80572A>G (p.Arg26858Gly)
c.70426A>G (p.Arg23476Gly)
2g.178527449T>GCA430234095TTN,TTN-AS1c.99973A>C (p.Arg33325=)
c.81058A>C (p.Arg27020=)
c.80857A>C (p.Arg26953=)
c.80482A>C (p.Arg26828=)
c.107677A>C (p.Arg35893=)
c.102754A>C (p.Arg34252=)
n.446+3813T>G
n.219+3813T>G
c.106774A>C (p.Arg35592=)
c.80668A>C (p.Arg26890=)
c.80527A>C (p.Arg26843=)
c.106570A>C (p.Arg35524=)
c.101968A>C (p.Arg33990=)
c.101965A>C (p.Arg33989=)
c.99007A>C (p.Arg33003=)
c.80623A>C (p.Arg26875=)
c.102118A>C (p.Arg34040=)
c.102115A>C (p.Arg34039=)
c.101548A>C (p.Arg33850=)
c.98890A>C (p.Arg32964=)
c.98809A>C (p.Arg32937=)
c.80572A>C (p.Arg26858=)
c.70426A>C (p.Arg23476=)
2g.178527450T>ACA430234099TTN,TTN-AS1c.99972A>T (p.Ile33324=)
c.81057A>T (p.Ile27019=)
c.80856A>T (p.Ile26952=)
c.80481A>T (p.Ile26827=)
c.107676A>T (p.Ile35892=)
c.102753A>T (p.Ile34251=)
n.446+3814T>A
n.219+3814T>A
c.106773A>T (p.Ile35591=)
c.80667A>T (p.Ile26889=)
c.80526A>T (p.Ile26842=)
c.106569A>T (p.Ile35523=)
c.101967A>T (p.Ile33989=)
c.101964A>T (p.Ile33988=)
c.99006A>T (p.Ile33002=)
c.80622A>T (p.Ile26874=)
c.102117A>T (p.Ile34039=)
c.102114A>T (p.Ile34038=)
c.101547A>T (p.Ile33849=)
c.98889A>T (p.Ile32963=)
c.98808A>T (p.Ile32936=)
c.80571A>T (p.Ile26857=)
c.70425A>T (p.Ile23475=)
2g.178527450T>CCA349399714TTN,TTN-AS1c.99972A>G (p.Ile33324Met)
c.81057A>G (p.Ile27019Met)
c.80856A>G (p.Ile26952Met)
c.80481A>G (p.Ile26827Met)
c.107676A>G (p.Ile35892Met)
c.102753A>G (p.Ile34251Met)
n.446+3814T>C
n.219+3814T>C
c.106773A>G (p.Ile35591Met)
c.80667A>G (p.Ile26889Met)
c.80526A>G (p.Ile26842Met)
c.106569A>G (p.Ile35523Met)
c.101967A>G (p.Ile33989Met)
c.101964A>G (p.Ile33988Met)
c.99006A>G (p.Ile33002Met)
c.80622A>G (p.Ile26874Met)
c.102117A>G (p.Ile34039Met)
c.102114A>G (p.Ile34038Met)
c.101547A>G (p.Ile33849Met)
c.98889A>G (p.Ile32963Met)
c.98808A>G (p.Ile32936Met)
c.80571A>G (p.Ile26857Met)
c.70425A>G (p.Ile23475Met)
2g.178527450T>GCA430234097TTN,TTN-AS1c.99972A>C (p.Ile33324=)
c.81057A>C (p.Ile27019=)
c.80856A>C (p.Ile26952=)
c.80481A>C (p.Ile26827=)
c.107676A>C (p.Ile35892=)
c.102753A>C (p.Ile34251=)
n.446+3814T>G
n.219+3814T>G
c.106773A>C (p.Ile35591=)
c.80667A>C (p.Ile26889=)
c.80526A>C (p.Ile26842=)
c.106569A>C (p.Ile35523=)
c.101967A>C (p.Ile33989=)
c.101964A>C (p.Ile33988=)
c.99006A>C (p.Ile33002=)
c.80622A>C (p.Ile26874=)
c.102117A>C (p.Ile34039=)
c.102114A>C (p.Ile34038=)
c.101547A>C (p.Ile33849=)
c.98889A>C (p.Ile32963=)
c.98808A>C (p.Ile32936=)
c.80571A>C (p.Ile26857=)
c.70425A>C (p.Ile23475=)
2g.178527451A>CCA349399716TTN,TTN-AS1c.99971T>G (p.Ile33324Arg)
c.81056T>G (p.Ile27019Arg)
c.80855T>G (p.Ile26952Arg)
c.80480T>G (p.Ile26827Arg)
c.107675T>G (p.Ile35892Arg)
c.102752T>G (p.Ile34251Arg)
n.446+3815A>C
n.219+3815A>C
c.106772T>G (p.Ile35591Arg)
c.80666T>G (p.Ile26889Arg)
c.80525T>G (p.Ile26842Arg)
c.106568T>G (p.Ile35523Arg)
c.101966T>G (p.Ile33989Arg)
c.101963T>G (p.Ile33988Arg)
c.99005T>G (p.Ile33002Arg)
c.80621T>G (p.Ile26874Arg)
c.102116T>G (p.Ile34039Arg)
c.102113T>G (p.Ile34038Arg)
c.101546T>G (p.Ile33849Arg)
c.98888T>G (p.Ile32963Arg)
c.98807T>G (p.Ile32936Arg)
c.80570T>G (p.Ile26857Arg)
c.70424T>G (p.Ile23475Arg)
2g.178527451A>GCA349399717TTN,TTN-AS1c.99971T>C (p.Ile33324Thr)
c.81056T>C (p.Ile27019Thr)
c.80855T>C (p.Ile26952Thr)
c.80480T>C (p.Ile26827Thr)
c.107675T>C (p.Ile35892Thr)
c.102752T>C (p.Ile34251Thr)
n.446+3815A>G
n.219+3815A>G
c.106772T>C (p.Ile35591Thr)
c.80666T>C (p.Ile26889Thr)
c.80525T>C (p.Ile26842Thr)
c.106568T>C (p.Ile35523Thr)
c.101966T>C (p.Ile33989Thr)
c.101963T>C (p.Ile33988Thr)
c.99005T>C (p.Ile33002Thr)
c.80621T>C (p.Ile26874Thr)
c.102116T>C (p.Ile34039Thr)
c.102113T>C (p.Ile34038Thr)
c.101546T>C (p.Ile33849Thr)
c.98888T>C (p.Ile32963Thr)
c.98807T>C (p.Ile32936Thr)
c.80570T>C (p.Ile26857Thr)
c.70424T>C (p.Ile23475Thr)
2g.178527451A>TCA349399719TTN,TTN-AS1c.99971T>A (p.Ile33324Lys)
c.81056T>A (p.Ile27019Lys)
c.80855T>A (p.Ile26952Lys)
c.80480T>A (p.Ile26827Lys)
c.107675T>A (p.Ile35892Lys)
c.102752T>A (p.Ile34251Lys)
n.446+3815A>T
n.219+3815A>T
c.106772T>A (p.Ile35591Lys)
c.80666T>A (p.Ile26889Lys)
c.80525T>A (p.Ile26842Lys)
c.106568T>A (p.Ile35523Lys)
c.101966T>A (p.Ile33989Lys)
c.101963T>A (p.Ile33988Lys)
c.99005T>A (p.Ile33002Lys)
c.80621T>A (p.Ile26874Lys)
c.102116T>A (p.Ile34039Lys)
c.102113T>A (p.Ile34038Lys)
c.101546T>A (p.Ile33849Lys)
c.98888T>A (p.Ile32963Lys)
c.98807T>A (p.Ile32936Lys)
c.80570T>A (p.Ile26857Lys)
c.70424T>A (p.Ile23475Lys)
2g.178527452T>ACA349399724TTN,TTN-AS1c.99970A>T (p.Ile33324Leu)
c.81055A>T (p.Ile27019Leu)
c.80854A>T (p.Ile26952Leu)
c.80479A>T (p.Ile26827Leu)
c.107674A>T (p.Ile35892Leu)
c.102751A>T (p.Ile34251Leu)
n.446+3816T>A
n.219+3816T>A
c.106771A>T (p.Ile35591Leu)
c.80665A>T (p.Ile26889Leu)
c.80524A>T (p.Ile26842Leu)
c.106567A>T (p.Ile35523Leu)
c.101965A>T (p.Ile33989Leu)
c.101962A>T (p.Ile33988Leu)
c.99004A>T (p.Ile33002Leu)
c.80620A>T (p.Ile26874Leu)
c.102115A>T (p.Ile34039Leu)
c.102112A>T (p.Ile34038Leu)
c.101545A>T (p.Ile33849Leu)
c.98887A>T (p.Ile32963Leu)
c.98806A>T (p.Ile32936Leu)
c.80569A>T (p.Ile26857Leu)
c.70423A>T (p.Ile23475Leu)
2g.178527452T>CCA349399722TTN,TTN-AS1c.99970A>G (p.Ile33324Val)
c.81055A>G (p.Ile27019Val)
c.80854A>G (p.Ile26952Val)
c.80479A>G (p.Ile26827Val)
c.107674A>G (p.Ile35892Val)
c.102751A>G (p.Ile34251Val)
n.446+3816T>C
n.219+3816T>C
c.106771A>G (p.Ile35591Val)
c.80665A>G (p.Ile26889Val)
c.80524A>G (p.Ile26842Val)
c.106567A>G (p.Ile35523Val)
c.101965A>G (p.Ile33989Val)
c.101962A>G (p.Ile33988Val)
c.99004A>G (p.Ile33002Val)
c.80620A>G (p.Ile26874Val)
c.102115A>G (p.Ile34039Val)
c.102112A>G (p.Ile34038Val)
c.101545A>G (p.Ile33849Val)
c.98887A>G (p.Ile32963Val)
c.98806A>G (p.Ile32936Val)
c.80569A>G (p.Ile26857Val)
c.70423A>G (p.Ile23475Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178527452T>GCA349399720TTN,TTN-AS1c.99970A>C (p.Ile33324Leu)
c.81055A>C (p.Ile27019Leu)
c.80854A>C (p.Ile26952Leu)
c.80479A>C (p.Ile26827Leu)
c.107674A>C (p.Ile35892Leu)
c.102751A>C (p.Ile34251Leu)
n.446+3816T>G
n.219+3816T>G
c.106771A>C (p.Ile35591Leu)
c.80665A>C (p.Ile26889Leu)
c.80524A>C (p.Ile26842Leu)
c.106567A>C (p.Ile35523Leu)
c.101965A>C (p.Ile33989Leu)
c.101962A>C (p.Ile33988Leu)
c.99004A>C (p.Ile33002Leu)
c.80620A>C (p.Ile26874Leu)
c.102115A>C (p.Ile34039Leu)
c.102112A>C (p.Ile34038Leu)
c.101545A>C (p.Ile33849Leu)
c.98887A>C (p.Ile32963Leu)
c.98806A>C (p.Ile32936Leu)
c.80569A>C (p.Ile26857Leu)
c.70423A>C (p.Ile23475Leu)
 ClinVar gnomAD v4
2g.178527452T=CA1310514478TTN,TTN-AS1c.99970A= (p.Ile33324=)
c.81055A= (p.Ile27019=)
c.80854A= (p.Ile26952=)
c.80479A= (p.Ile26827=)
c.107674A= (p.Ile35892=)
c.102751A= (p.Ile34251=)
n.446+3816T=
n.219+3816T=
c.106771A= (p.Ile35591=)
c.80665A= (p.Ile26889=)
c.80524A= (p.Ile26842=)
c.106567A= (p.Ile35523=)
c.101965A= (p.Ile33989=)
c.101962A= (p.Ile33988=)
c.99004A= (p.Ile33002=)
c.80620A= (p.Ile26874=)
c.102115A= (p.Ile34039=)
c.102112A= (p.Ile34038=)
c.101545A= (p.Ile33849=)
c.98887A= (p.Ile32963=)
c.98806A= (p.Ile32936=)
c.80569A= (p.Ile26857=)
c.70423A= (p.Ile23475=)
2g.178527453G>ACA430234105TTN,TTN-AS1c.99969C>T (p.Gly33323=)
c.81054C>T (p.Gly27018=)
c.80853C>T (p.Gly26951=)
c.80478C>T (p.Gly26826=)
c.107673C>T (p.Gly35891=)
c.102750C>T (p.Gly34250=)
n.446+3817G>A
n.219+3817G>A
c.106770C>T (p.Gly35590=)
c.80664C>T (p.Gly26888=)
c.80523C>T (p.Gly26841=)
c.106566C>T (p.Gly35522=)
c.101964C>T (p.Gly33988=)
c.101961C>T (p.Gly33987=)
c.99003C>T (p.Gly33001=)
c.80619C>T (p.Gly26873=)
c.102114C>T (p.Gly34038=)
c.102111C>T (p.Gly34037=)
c.101544C>T (p.Gly33848=)
c.98886C>T (p.Gly32962=)
c.98805C>T (p.Gly32935=)
c.80568C>T (p.Gly26856=)
c.70422C>T (p.Gly23474=)
2g.178527453G>CCA430234107TTN,TTN-AS1c.99969C>G (p.Gly33323=)
c.81054C>G (p.Gly27018=)
c.80853C>G (p.Gly26951=)
c.80478C>G (p.Gly26826=)
c.107673C>G (p.Gly35891=)
c.102750C>G (p.Gly34250=)
n.446+3817G>C
n.219+3817G>C
c.106770C>G (p.Gly35590=)
c.80664C>G (p.Gly26888=)
c.80523C>G (p.Gly26841=)
c.106566C>G (p.Gly35522=)
c.101964C>G (p.Gly33988=)
c.101961C>G (p.Gly33987=)
c.99003C>G (p.Gly33001=)
c.80619C>G (p.Gly26873=)
c.102114C>G (p.Gly34038=)
c.102111C>G (p.Gly34037=)
c.101544C>G (p.Gly33848=)
c.98886C>G (p.Gly32962=)
c.98805C>G (p.Gly32935=)
c.80568C>G (p.Gly26856=)
c.70422C>G (p.Gly23474=)
2g.178527453G>TCA430234106TTN,TTN-AS1c.99969C>A (p.Gly33323=)
c.81054C>A (p.Gly27018=)
c.80853C>A (p.Gly26951=)
c.80478C>A (p.Gly26826=)
c.107673C>A (p.Gly35891=)
c.102750C>A (p.Gly34250=)
n.446+3817G>T
n.219+3817G>T
c.106770C>A (p.Gly35590=)
c.80664C>A (p.Gly26888=)
c.80523C>A (p.Gly26841=)
c.106566C>A (p.Gly35522=)
c.101964C>A (p.Gly33988=)
c.101961C>A (p.Gly33987=)
c.99003C>A (p.Gly33001=)
c.80619C>A (p.Gly26873=)
c.102114C>A (p.Gly34038=)
c.102111C>A (p.Gly34037=)
c.101544C>A (p.Gly33848=)
c.98886C>A (p.Gly32962=)
c.98805C>A (p.Gly32935=)
c.80568C>A (p.Gly26856=)
c.70422C>A (p.Gly23474=)
2g.178527454C>ACA349399726TTN,TTN-AS1c.99968G>T (p.Gly33323Val)
c.81053G>T (p.Gly27018Val)
c.80852G>T (p.Gly26951Val)
c.80477G>T (p.Gly26826Val)
c.107672G>T (p.Gly35891Val)
c.102749G>T (p.Gly34250Val)
n.446+3818C>A
n.219+3818C>A
c.106769G>T (p.Gly35590Val)
c.80663G>T (p.Gly26888Val)
c.80522G>T (p.Gly26841Val)
c.106565G>T (p.Gly35522Val)
c.101963G>T (p.Gly33988Val)
c.101960G>T (p.Gly33987Val)
c.99002G>T (p.Gly33001Val)
c.80618G>T (p.Gly26873Val)
c.102113G>T (p.Gly34038Val)
c.102110G>T (p.Gly34037Val)
c.101543G>T (p.Gly33848Val)
c.98885G>T (p.Gly32962Val)
c.98804G>T (p.Gly32935Val)
c.80567G>T (p.Gly26856Val)
c.70421G>T (p.Gly23474Val)
2g.178527454C=CA1310514479TTN,TTN-AS1c.99968G= (p.Gly33323=)
c.81053G= (p.Gly27018=)
c.80852G= (p.Gly26951=)
c.80477G= (p.Gly26826=)
c.107672G= (p.Gly35891=)
c.102749G= (p.Gly34250=)
n.446+3818C=
n.219+3818C=
c.106769G= (p.Gly35590=)
c.80663G= (p.Gly26888=)
c.80522G= (p.Gly26841=)
c.106565G= (p.Gly35522=)
c.101963G= (p.Gly33988=)
c.101960G= (p.Gly33987=)
c.99002G= (p.Gly33001=)
c.80618G= (p.Gly26873=)
c.102113G= (p.Gly34038=)
c.102110G= (p.Gly34037=)
c.101543G= (p.Gly33848=)
c.98885G= (p.Gly32962=)
c.98804G= (p.Gly32935=)
c.80567G= (p.Gly26856=)
c.70421G= (p.Gly23474=)
2g.178527454C>GCA349399727TTN,TTN-AS1c.99968G>C (p.Gly33323Ala)
c.81053G>C (p.Gly27018Ala)
c.80852G>C (p.Gly26951Ala)
c.80477G>C (p.Gly26826Ala)
c.107672G>C (p.Gly35891Ala)
c.102749G>C (p.Gly34250Ala)
n.446+3818C>G
n.219+3818C>G
c.106769G>C (p.Gly35590Ala)
c.80663G>C (p.Gly26888Ala)
c.80522G>C (p.Gly26841Ala)
c.106565G>C (p.Gly35522Ala)
c.101963G>C (p.Gly33988Ala)
c.101960G>C (p.Gly33987Ala)
c.99002G>C (p.Gly33001Ala)
c.80618G>C (p.Gly26873Ala)
c.102113G>C (p.Gly34038Ala)
c.102110G>C (p.Gly34037Ala)
c.101543G>C (p.Gly33848Ala)
c.98885G>C (p.Gly32962Ala)
c.98804G>C (p.Gly32935Ala)
c.80567G>C (p.Gly26856Ala)
c.70421G>C (p.Gly23474Ala)
2g.178527454C>TCA349399728TTN,TTN-AS1c.99968G>A (p.Gly33323Asp)
c.81053G>A (p.Gly27018Asp)
c.80852G>A (p.Gly26951Asp)
c.80477G>A (p.Gly26826Asp)
c.107672G>A (p.Gly35891Asp)
c.102749G>A (p.Gly34250Asp)
n.446+3818C>T
n.219+3818C>T
c.106769G>A (p.Gly35590Asp)
c.80663G>A (p.Gly26888Asp)
c.80522G>A (p.Gly26841Asp)
c.106565G>A (p.Gly35522Asp)
c.101963G>A (p.Gly33988Asp)
c.101960G>A (p.Gly33987Asp)
c.99002G>A (p.Gly33001Asp)
c.80618G>A (p.Gly26873Asp)
c.102113G>A (p.Gly34038Asp)
c.102110G>A (p.Gly34037Asp)
c.101543G>A (p.Gly33848Asp)
c.98885G>A (p.Gly32962Asp)
c.98804G>A (p.Gly32935Asp)
c.80567G>A (p.Gly26856Asp)
c.70421G>A (p.Gly23474Asp)
 dbSNP
2g.178527455C>ACA349399730TTN,TTN-AS1c.99967G>T (p.Gly33323Cys)
c.81052G>T (p.Gly27018Cys)
c.80851G>T (p.Gly26951Cys)
c.80476G>T (p.Gly26826Cys)
c.107671G>T (p.Gly35891Cys)
c.102748G>T (p.Gly34250Cys)
n.446+3819C>A
n.219+3819C>A
c.106768G>T (p.Gly35590Cys)
c.80662G>T (p.Gly26888Cys)
c.80521G>T (p.Gly26841Cys)
c.106564G>T (p.Gly35522Cys)
c.101962G>T (p.Gly33988Cys)
c.101959G>T (p.Gly33987Cys)
c.99001G>T (p.Gly33001Cys)
c.80617G>T (p.Gly26873Cys)
c.102112G>T (p.Gly34038Cys)
c.102109G>T (p.Gly34037Cys)
c.101542G>T (p.Gly33848Cys)
c.98884G>T (p.Gly32962Cys)
c.98803G>T (p.Gly32935Cys)
c.80566G>T (p.Gly26856Cys)
c.70420G>T (p.Gly23474Cys)
2g.178527455C=CA1310514480TTN,TTN-AS1c.99967G= (p.Gly33323=)
c.81052G= (p.Gly27018=)
c.80851G= (p.Gly26951=)
c.80476G= (p.Gly26826=)
c.107671G= (p.Gly35891=)
c.102748G= (p.Gly34250=)
n.446+3819C=
n.219+3819C=
c.106768G= (p.Gly35590=)
c.80662G= (p.Gly26888=)
c.80521G= (p.Gly26841=)
c.106564G= (p.Gly35522=)
c.101962G= (p.Gly33988=)
c.101959G= (p.Gly33987=)
c.99001G= (p.Gly33001=)
c.80617G= (p.Gly26873=)
c.102112G= (p.Gly34038=)
c.102109G= (p.Gly34037=)
c.101542G= (p.Gly33848=)
c.98884G= (p.Gly32962=)
c.98803G= (p.Gly32935=)
c.80566G= (p.Gly26856=)
c.70420G= (p.Gly23474=)
2g.178527455C>GCA349399732TTN,TTN-AS1c.99967G>C (p.Gly33323Arg)
c.81052G>C (p.Gly27018Arg)
c.80851G>C (p.Gly26951Arg)
c.80476G>C (p.Gly26826Arg)
c.107671G>C (p.Gly35891Arg)
c.102748G>C (p.Gly34250Arg)
n.446+3819C>G
n.219+3819C>G
c.106768G>C (p.Gly35590Arg)
c.80662G>C (p.Gly26888Arg)
c.80521G>C (p.Gly26841Arg)
c.106564G>C (p.Gly35522Arg)
c.101962G>C (p.Gly33988Arg)
c.101959G>C (p.Gly33987Arg)
c.99001G>C (p.Gly33001Arg)
c.80617G>C (p.Gly26873Arg)
c.102112G>C (p.Gly34038Arg)
c.102109G>C (p.Gly34037Arg)
c.101542G>C (p.Gly33848Arg)
c.98884G>C (p.Gly32962Arg)
c.98803G>C (p.Gly32935Arg)
c.80566G>C (p.Gly26856Arg)
c.70420G>C (p.Gly23474Arg)
2g.178527455C>TCA1984914TTN,TTN-AS1c.99967G>A (p.Gly33323Ser)
c.81052G>A (p.Gly27018Ser)
c.80851G>A (p.Gly26951Ser)
c.80476G>A (p.Gly26826Ser)
c.107671G>A (p.Gly35891Ser)
c.102748G>A (p.Gly34250Ser)
n.446+3819C>T
n.219+3819C>T
c.106768G>A (p.Gly35590Ser)
c.80662G>A (p.Gly26888Ser)
c.80521G>A (p.Gly26841Ser)
c.106564G>A (p.Gly35522Ser)
c.101962G>A (p.Gly33988Ser)
c.101959G>A (p.Gly33987Ser)
c.99001G>A (p.Gly33001Ser)
c.80617G>A (p.Gly26873Ser)
c.102112G>A (p.Gly34038Ser)
c.102109G>A (p.Gly34037Ser)
c.101542G>A (p.Gly33848Ser)
c.98884G>A (p.Gly32962Ser)
c.98803G>A (p.Gly32935Ser)
c.80566G>A (p.Gly26856Ser)
c.70420G>A (p.Gly23474Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527456T>ACA430234110TTN,TTN-AS1c.99966A>T (p.Ala33322=)
c.81051A>T (p.Ala27017=)
c.80850A>T (p.Ala26950=)
c.80475A>T (p.Ala26825=)
c.107670A>T (p.Ala35890=)
c.102747A>T (p.Ala34249=)
n.446+3820T>A
n.219+3820T>A
c.106767A>T (p.Ala35589=)
c.80661A>T (p.Ala26887=)
c.80520A>T (p.Ala26840=)
c.106563A>T (p.Ala35521=)
c.101961A>T (p.Ala33987=)
c.101958A>T (p.Ala33986=)
c.99000A>T (p.Ala33000=)
c.80616A>T (p.Ala26872=)
c.102111A>T (p.Ala34037=)
c.102108A>T (p.Ala34036=)
c.101541A>T (p.Ala33847=)
c.98883A>T (p.Ala32961=)
c.98802A>T (p.Ala32934=)
c.80565A>T (p.Ala26855=)
c.70419A>T (p.Ala23473=)
2g.178527456T>CCA430234111TTN,TTN-AS1c.99966A>G (p.Ala33322=)
c.81051A>G (p.Ala27017=)
c.80850A>G (p.Ala26950=)
c.80475A>G (p.Ala26825=)
c.107670A>G (p.Ala35890=)
c.102747A>G (p.Ala34249=)
n.446+3820T>C
n.219+3820T>C
c.106767A>G (p.Ala35589=)
c.80661A>G (p.Ala26887=)
c.80520A>G (p.Ala26840=)
c.106563A>G (p.Ala35521=)
c.101961A>G (p.Ala33987=)
c.101958A>G (p.Ala33986=)
c.99000A>G (p.Ala33000=)
c.80616A>G (p.Ala26872=)
c.102111A>G (p.Ala34037=)
c.102108A>G (p.Ala34036=)
c.101541A>G (p.Ala33847=)
c.98883A>G (p.Ala32961=)
c.98802A>G (p.Ala32934=)
c.80565A>G (p.Ala26855=)
c.70419A>G (p.Ala23473=)
2g.178527456T>GCA430234112TTN,TTN-AS1c.99966A>C (p.Ala33322=)
c.81051A>C (p.Ala27017=)
c.80850A>C (p.Ala26950=)
c.80475A>C (p.Ala26825=)
c.107670A>C (p.Ala35890=)
c.102747A>C (p.Ala34249=)
n.446+3820T>G
n.219+3820T>G
c.106767A>C (p.Ala35589=)
c.80661A>C (p.Ala26887=)
c.80520A>C (p.Ala26840=)
c.106563A>C (p.Ala35521=)
c.101961A>C (p.Ala33987=)
c.101958A>C (p.Ala33986=)
c.99000A>C (p.Ala33000=)
c.80616A>C (p.Ala26872=)
c.102111A>C (p.Ala34037=)
c.102108A>C (p.Ala34036=)
c.101541A>C (p.Ala33847=)
c.98883A>C (p.Ala32961=)
c.98802A>C (p.Ala32934=)
c.80565A>C (p.Ala26855=)
c.70419A>C (p.Ala23473=)
2g.178527457G>ACA349399736TTN,TTN-AS1c.99965C>T (p.Ala33322Val)
c.81050C>T (p.Ala27017Val)
c.80849C>T (p.Ala26950Val)
c.80474C>T (p.Ala26825Val)
c.107669C>T (p.Ala35890Val)
c.102746C>T (p.Ala34249Val)
n.446+3821G>A
n.219+3821G>A
c.106766C>T (p.Ala35589Val)
c.80660C>T (p.Ala26887Val)
c.80519C>T (p.Ala26840Val)
c.106562C>T (p.Ala35521Val)
c.101960C>T (p.Ala33987Val)
c.101957C>T (p.Ala33986Val)
c.98999C>T (p.Ala33000Val)
c.80615C>T (p.Ala26872Val)
c.102110C>T (p.Ala34037Val)
c.102107C>T (p.Ala34036Val)
c.101540C>T (p.Ala33847Val)
c.98882C>T (p.Ala32961Val)
c.98801C>T (p.Ala32934Val)
c.80564C>T (p.Ala26855Val)
c.70418C>T (p.Ala23473Val)
 gnomAD v4
2g.178527457G>CCA349399734TTN,TTN-AS1c.99965C>G (p.Ala33322Gly)
c.81050C>G (p.Ala27017Gly)
c.80849C>G (p.Ala26950Gly)
c.80474C>G (p.Ala26825Gly)
c.107669C>G (p.Ala35890Gly)
c.102746C>G (p.Ala34249Gly)
n.446+3821G>C
n.219+3821G>C
c.106766C>G (p.Ala35589Gly)
c.80660C>G (p.Ala26887Gly)
c.80519C>G (p.Ala26840Gly)
c.106562C>G (p.Ala35521Gly)
c.101960C>G (p.Ala33987Gly)
c.101957C>G (p.Ala33986Gly)
c.98999C>G (p.Ala33000Gly)
c.80615C>G (p.Ala26872Gly)
c.102110C>G (p.Ala34037Gly)
c.102107C>G (p.Ala34036Gly)
c.101540C>G (p.Ala33847Gly)
c.98882C>G (p.Ala32961Gly)
c.98801C>G (p.Ala32934Gly)
c.80564C>G (p.Ala26855Gly)
c.70418C>G (p.Ala23473Gly)
2g.178527457G>TCA349399735TTN,TTN-AS1c.99965C>A (p.Ala33322Glu)
c.81050C>A (p.Ala27017Glu)
c.80849C>A (p.Ala26950Glu)
c.80474C>A (p.Ala26825Glu)
c.107669C>A (p.Ala35890Glu)
c.102746C>A (p.Ala34249Glu)
n.446+3821G>T
n.219+3821G>T
c.106766C>A (p.Ala35589Glu)
c.80660C>A (p.Ala26887Glu)
c.80519C>A (p.Ala26840Glu)
c.106562C>A (p.Ala35521Glu)
c.101960C>A (p.Ala33987Glu)
c.101957C>A (p.Ala33986Glu)
c.98999C>A (p.Ala33000Glu)
c.80615C>A (p.Ala26872Glu)
c.102110C>A (p.Ala34037Glu)
c.102107C>A (p.Ala34036Glu)
c.101540C>A (p.Ala33847Glu)
c.98882C>A (p.Ala32961Glu)
c.98801C>A (p.Ala32934Glu)
c.80564C>A (p.Ala26855Glu)
c.70418C>A (p.Ala23473Glu)
2g.178527458C>ACA349399737TTN,TTN-AS1c.99964G>T (p.Ala33322Ser)
c.81049G>T (p.Ala27017Ser)
c.80848G>T (p.Ala26950Ser)
c.80473G>T (p.Ala26825Ser)
c.107668G>T (p.Ala35890Ser)
c.102745G>T (p.Ala34249Ser)
n.446+3822C>A
n.219+3822C>A
c.106765G>T (p.Ala35589Ser)
c.80659G>T (p.Ala26887Ser)
c.80518G>T (p.Ala26840Ser)
c.106561G>T (p.Ala35521Ser)
c.101959G>T (p.Ala33987Ser)
c.101956G>T (p.Ala33986Ser)
c.98998G>T (p.Ala33000Ser)
c.80614G>T (p.Ala26872Ser)
c.102109G>T (p.Ala34037Ser)
c.102106G>T (p.Ala34036Ser)
c.101539G>T (p.Ala33847Ser)
c.98881G>T (p.Ala32961Ser)
c.98800G>T (p.Ala32934Ser)
c.80563G>T (p.Ala26855Ser)
c.70417G>T (p.Ala23473Ser)
2g.178527458C>GCA349399739TTN,TTN-AS1c.99964G>C (p.Ala33322Pro)
c.81049G>C (p.Ala27017Pro)
c.80848G>C (p.Ala26950Pro)
c.80473G>C (p.Ala26825Pro)
c.107668G>C (p.Ala35890Pro)
c.102745G>C (p.Ala34249Pro)
n.446+3822C>G
n.219+3822C>G
c.106765G>C (p.Ala35589Pro)
c.80659G>C (p.Ala26887Pro)
c.80518G>C (p.Ala26840Pro)
c.106561G>C (p.Ala35521Pro)
c.101959G>C (p.Ala33987Pro)
c.101956G>C (p.Ala33986Pro)
c.98998G>C (p.Ala33000Pro)
c.80614G>C (p.Ala26872Pro)
c.102109G>C (p.Ala34037Pro)
c.102106G>C (p.Ala34036Pro)
c.101539G>C (p.Ala33847Pro)
c.98881G>C (p.Ala32961Pro)
c.98800G>C (p.Ala32934Pro)
c.80563G>C (p.Ala26855Pro)
c.70417G>C (p.Ala23473Pro)
2g.178527458C>TCA349399740TTN,TTN-AS1c.99964G>A (p.Ala33322Thr)
c.81049G>A (p.Ala27017Thr)
c.80848G>A (p.Ala26950Thr)
c.80473G>A (p.Ala26825Thr)
c.107668G>A (p.Ala35890Thr)
c.102745G>A (p.Ala34249Thr)
n.446+3822C>T
n.219+3822C>T
c.106765G>A (p.Ala35589Thr)
c.80659G>A (p.Ala26887Thr)
c.80518G>A (p.Ala26840Thr)
c.106561G>A (p.Ala35521Thr)
c.101959G>A (p.Ala33987Thr)
c.101956G>A (p.Ala33986Thr)
c.98998G>A (p.Ala33000Thr)
c.80614G>A (p.Ala26872Thr)
c.102109G>A (p.Ala34037Thr)
c.102106G>A (p.Ala34036Thr)
c.101539G>A (p.Ala33847Thr)
c.98881G>A (p.Ala32961Thr)
c.98800G>A (p.Ala32934Thr)
c.80563G>A (p.Ala26855Thr)
c.70417G>A (p.Ala23473Thr)
2g.178527459T>ACA349399742TTN,TTN-AS1c.99963A>T (p.Lys33321Asn)
c.81048A>T (p.Lys27016Asn)
c.80847A>T (p.Lys26949Asn)
c.80472A>T (p.Lys26824Asn)
c.107667A>T (p.Lys35889Asn)
c.102744A>T (p.Lys34248Asn)
n.446+3823T>A
n.219+3823T>A
c.106764A>T (p.Lys35588Asn)
c.80658A>T (p.Lys26886Asn)
c.80517A>T (p.Lys26839Asn)
c.106560A>T (p.Lys35520Asn)
c.101958A>T (p.Lys33986Asn)
c.101955A>T (p.Lys33985Asn)
c.98997A>T (p.Lys32999Asn)
c.80613A>T (p.Lys26871Asn)
c.102108A>T (p.Lys34036Asn)
c.102105A>T (p.Lys34035Asn)
c.101538A>T (p.Lys33846Asn)
c.98880A>T (p.Lys32960Asn)
c.98799A>T (p.Lys32933Asn)
c.80562A>T (p.Lys26854Asn)
c.70416A>T (p.Lys23472Asn)
2g.178527459T>CCA430234119TTN,TTN-AS1c.99963A>G (p.Lys33321=)
c.81048A>G (p.Lys27016=)
c.80847A>G (p.Lys26949=)
c.80472A>G (p.Lys26824=)
c.107667A>G (p.Lys35889=)
c.102744A>G (p.Lys34248=)
n.446+3823T>C
n.219+3823T>C
c.106764A>G (p.Lys35588=)
c.80658A>G (p.Lys26886=)
c.80517A>G (p.Lys26839=)
c.106560A>G (p.Lys35520=)
c.101958A>G (p.Lys33986=)
c.101955A>G (p.Lys33985=)
c.98997A>G (p.Lys32999=)
c.80613A>G (p.Lys26871=)
c.102108A>G (p.Lys34036=)
c.102105A>G (p.Lys34035=)
c.101538A>G (p.Lys33846=)
c.98880A>G (p.Lys32960=)
c.98799A>G (p.Lys32933=)
c.80562A>G (p.Lys26854=)
c.70416A>G (p.Lys23472=)
2g.178527459T>GCA349399744TTN,TTN-AS1c.99963A>C (p.Lys33321Asn)
c.81048A>C (p.Lys27016Asn)
c.80847A>C (p.Lys26949Asn)
c.80472A>C (p.Lys26824Asn)
c.107667A>C (p.Lys35889Asn)
c.102744A>C (p.Lys34248Asn)
n.446+3823T>G
n.219+3823T>G
c.106764A>C (p.Lys35588Asn)
c.80658A>C (p.Lys26886Asn)
c.80517A>C (p.Lys26839Asn)
c.106560A>C (p.Lys35520Asn)
c.101958A>C (p.Lys33986Asn)
c.101955A>C (p.Lys33985Asn)
c.98997A>C (p.Lys32999Asn)
c.80613A>C (p.Lys26871Asn)
c.102108A>C (p.Lys34036Asn)
c.102105A>C (p.Lys34035Asn)
c.101538A>C (p.Lys33846Asn)
c.98880A>C (p.Lys32960Asn)
c.98799A>C (p.Lys32933Asn)
c.80562A>C (p.Lys26854Asn)
c.70416A>C (p.Lys23472Asn)
2g.178527460T>ACA349399745TTN,TTN-AS1c.99962A>T (p.Lys33321Ile)
c.81047A>T (p.Lys27016Ile)
c.80846A>T (p.Lys26949Ile)
c.80471A>T (p.Lys26824Ile)
c.107666A>T (p.Lys35889Ile)
c.102743A>T (p.Lys34248Ile)
n.446+3824T>A
n.219+3824T>A
c.106763A>T (p.Lys35588Ile)
c.80657A>T (p.Lys26886Ile)
c.80516A>T (p.Lys26839Ile)
c.106559A>T (p.Lys35520Ile)
c.101957A>T (p.Lys33986Ile)
c.101954A>T (p.Lys33985Ile)
c.98996A>T (p.Lys32999Ile)
c.80612A>T (p.Lys26871Ile)
c.102107A>T (p.Lys34036Ile)
c.102104A>T (p.Lys34035Ile)
c.101537A>T (p.Lys33846Ile)
c.98879A>T (p.Lys32960Ile)
c.98798A>T (p.Lys32933Ile)
c.80561A>T (p.Lys26854Ile)
c.70415A>T (p.Lys23472Ile)
2g.178527460T>CCA349399748TTN,TTN-AS1c.99962A>G (p.Lys33321Arg)
c.81047A>G (p.Lys27016Arg)
c.80846A>G (p.Lys26949Arg)
c.80471A>G (p.Lys26824Arg)
c.107666A>G (p.Lys35889Arg)
c.102743A>G (p.Lys34248Arg)
n.446+3824T>C
n.219+3824T>C
c.106763A>G (p.Lys35588Arg)
c.80657A>G (p.Lys26886Arg)
c.80516A>G (p.Lys26839Arg)
c.106559A>G (p.Lys35520Arg)
c.101957A>G (p.Lys33986Arg)
c.101954A>G (p.Lys33985Arg)
c.98996A>G (p.Lys32999Arg)
c.80612A>G (p.Lys26871Arg)
c.102107A>G (p.Lys34036Arg)
c.102104A>G (p.Lys34035Arg)
c.101537A>G (p.Lys33846Arg)
c.98879A>G (p.Lys32960Arg)
c.98798A>G (p.Lys32933Arg)
c.80561A>G (p.Lys26854Arg)
c.70415A>G (p.Lys23472Arg)
2g.178527460T>GCA349399747TTN,TTN-AS1c.99962A>C (p.Lys33321Thr)
c.81047A>C (p.Lys27016Thr)
c.80846A>C (p.Lys26949Thr)
c.80471A>C (p.Lys26824Thr)
c.107666A>C (p.Lys35889Thr)
c.102743A>C (p.Lys34248Thr)
n.446+3824T>G
n.219+3824T>G
c.106763A>C (p.Lys35588Thr)
c.80657A>C (p.Lys26886Thr)
c.80516A>C (p.Lys26839Thr)
c.106559A>C (p.Lys35520Thr)
c.101957A>C (p.Lys33986Thr)
c.101954A>C (p.Lys33985Thr)
c.98996A>C (p.Lys32999Thr)
c.80612A>C (p.Lys26871Thr)
c.102107A>C (p.Lys34036Thr)
c.102104A>C (p.Lys34035Thr)
c.101537A>C (p.Lys33846Thr)
c.98879A>C (p.Lys32960Thr)
c.98798A>C (p.Lys32933Thr)
c.80561A>C (p.Lys26854Thr)
c.70415A>C (p.Lys23472Thr)
2g.178527461T>ACA349399750TTN,TTN-AS1c.99961A>T (p.Lys33321Ter)
c.81046A>T (p.Lys27016Ter)
c.80845A>T (p.Lys26949Ter)
c.80470A>T (p.Lys26824Ter)
c.107665A>T (p.Lys35889Ter)
c.102742A>T (p.Lys34248Ter)
n.446+3825T>A
n.219+3825T>A
c.106762A>T (p.Lys35588Ter)
c.80656A>T (p.Lys26886Ter)
c.80515A>T (p.Lys26839Ter)
c.106558A>T (p.Lys35520Ter)
c.101956A>T (p.Lys33986Ter)
c.101953A>T (p.Lys33985Ter)
c.98995A>T (p.Lys32999Ter)
c.80611A>T (p.Lys26871Ter)
c.102106A>T (p.Lys34036Ter)
c.102103A>T (p.Lys34035Ter)
c.101536A>T (p.Lys33846Ter)
c.98878A>T (p.Lys32960Ter)
c.98797A>T (p.Lys32933Ter)
c.80560A>T (p.Lys26854Ter)
c.70414A>T (p.Lys23472Ter)
2g.178527461T>CCA349399751TTN,TTN-AS1c.99961A>G (p.Lys33321Glu)
c.81046A>G (p.Lys27016Glu)
c.80845A>G (p.Lys26949Glu)
c.80470A>G (p.Lys26824Glu)
c.107665A>G (p.Lys35889Glu)
c.102742A>G (p.Lys34248Glu)
n.446+3825T>C
n.219+3825T>C
c.106762A>G (p.Lys35588Glu)
c.80656A>G (p.Lys26886Glu)
c.80515A>G (p.Lys26839Glu)
c.106558A>G (p.Lys35520Glu)
c.101956A>G (p.Lys33986Glu)
c.101953A>G (p.Lys33985Glu)
c.98995A>G (p.Lys32999Glu)
c.80611A>G (p.Lys26871Glu)
c.102106A>G (p.Lys34036Glu)
c.102103A>G (p.Lys34035Glu)
c.101536A>G (p.Lys33846Glu)
c.98878A>G (p.Lys32960Glu)
c.98797A>G (p.Lys32933Glu)
c.80560A>G (p.Lys26854Glu)
c.70414A>G (p.Lys23472Glu)
2g.178527461T>GCA1984915TTN,TTN-AS1c.99961A>C (p.Lys33321Gln)
c.81046A>C (p.Lys27016Gln)
c.80845A>C (p.Lys26949Gln)
c.80470A>C (p.Lys26824Gln)
c.107665A>C (p.Lys35889Gln)
c.102742A>C (p.Lys34248Gln)
n.446+3825T>G
n.219+3825T>G
c.106762A>C (p.Lys35588Gln)
c.80656A>C (p.Lys26886Gln)
c.80515A>C (p.Lys26839Gln)
c.106558A>C (p.Lys35520Gln)
c.101956A>C (p.Lys33986Gln)
c.101953A>C (p.Lys33985Gln)
c.98995A>C (p.Lys32999Gln)
c.80611A>C (p.Lys26871Gln)
c.102106A>C (p.Lys34036Gln)
c.102103A>C (p.Lys34035Gln)
c.101536A>C (p.Lys33846Gln)
c.98878A>C (p.Lys32960Gln)
c.98797A>C (p.Lys32933Gln)
c.80560A>C (p.Lys26854Gln)
c.70414A>C (p.Lys23472Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527461T=CA1310514481TTN,TTN-AS1c.99961A= (p.Lys33321=)
c.81046A= (p.Lys27016=)
c.80845A= (p.Lys26949=)
c.80470A= (p.Lys26824=)
c.107665A= (p.Lys35889=)
c.102742A= (p.Lys34248=)
n.446+3825T=
n.219+3825T=
c.106762A= (p.Lys35588=)
c.80656A= (p.Lys26886=)
c.80515A= (p.Lys26839=)
c.106558A= (p.Lys35520=)
c.101956A= (p.Lys33986=)
c.101953A= (p.Lys33985=)
c.98995A= (p.Lys32999=)
c.80611A= (p.Lys26871=)
c.102106A= (p.Lys34036=)
c.102103A= (p.Lys34035=)
c.101536A= (p.Lys33846=)
c.98878A= (p.Lys32960=)
c.98797A= (p.Lys32933=)
c.80560A= (p.Lys26854=)
c.70414A= (p.Lys23472=)
2g.178527462A>CCA430234125TTN,TTN-AS1c.99960T>G (p.Leu33320=)
c.81045T>G (p.Leu27015=)
c.80844T>G (p.Leu26948=)
c.80469T>G (p.Leu26823=)
c.107664T>G (p.Leu35888=)
c.102741T>G (p.Leu34247=)
n.446+3826A>C
n.219+3826A>C
c.106761T>G (p.Leu35587=)
c.80655T>G (p.Leu26885=)
c.80514T>G (p.Leu26838=)
c.106557T>G (p.Leu35519=)
c.101955T>G (p.Leu33985=)
c.101952T>G (p.Leu33984=)
c.98994T>G (p.Leu32998=)
c.80610T>G (p.Leu26870=)
c.102105T>G (p.Leu34035=)
c.102102T>G (p.Leu34034=)
c.101535T>G (p.Leu33845=)
c.98877T>G (p.Leu32959=)
c.98796T>G (p.Leu32932=)
c.80559T>G (p.Leu26853=)
c.70413T>G (p.Leu23471=)
2g.178527462A>GCA430234126TTN,TTN-AS1c.99960T>C (p.Leu33320=)
c.81045T>C (p.Leu27015=)
c.80844T>C (p.Leu26948=)
c.80469T>C (p.Leu26823=)
c.107664T>C (p.Leu35888=)
c.102741T>C (p.Leu34247=)
n.446+3826A>G
n.219+3826A>G
c.106761T>C (p.Leu35587=)
c.80655T>C (p.Leu26885=)
c.80514T>C (p.Leu26838=)
c.106557T>C (p.Leu35519=)
c.101955T>C (p.Leu33985=)
c.101952T>C (p.Leu33984=)
c.98994T>C (p.Leu32998=)
c.80610T>C (p.Leu26870=)
c.102105T>C (p.Leu34035=)
c.102102T>C (p.Leu34034=)
c.101535T>C (p.Leu33845=)
c.98877T>C (p.Leu32959=)
c.98796T>C (p.Leu32932=)
c.80559T>C (p.Leu26853=)
c.70413T>C (p.Leu23471=)
2g.178527462A>TCA430234128TTN,TTN-AS1c.99960T>A (p.Leu33320=)
c.81045T>A (p.Leu27015=)
c.80844T>A (p.Leu26948=)
c.80469T>A (p.Leu26823=)
c.107664T>A (p.Leu35888=)
c.102741T>A (p.Leu34247=)
n.446+3826A>T
n.219+3826A>T
c.106761T>A (p.Leu35587=)
c.80655T>A (p.Leu26885=)
c.80514T>A (p.Leu26838=)
c.106557T>A (p.Leu35519=)
c.101955T>A (p.Leu33985=)
c.101952T>A (p.Leu33984=)
c.98994T>A (p.Leu32998=)
c.80610T>A (p.Leu26870=)
c.102105T>A (p.Leu34035=)
c.102102T>A (p.Leu34034=)
c.101535T>A (p.Leu33845=)
c.98877T>A (p.Leu32959=)
c.98796T>A (p.Leu32932=)
c.80559T>A (p.Leu26853=)
c.70413T>A (p.Leu23471=)
2g.178527463delCA2662122203TTN,TTN-AS1c.99960del (p.Ala33322GlnfsTer3)
c.81045del (p.Ala27017GlnfsTer3)
c.80844del (p.Ala26950GlnfsTer3)
c.80469del (p.Ala26825GlnfsTer3)
c.107664del (p.Ala35890GlnfsTer3)
c.102741del (p.Ala34249GlnfsTer3)
n.446+3827del
n.219+3827del
c.106761del (p.Ala35589GlnfsTer3)
c.80655del (p.Ala26887GlnfsTer3)
c.80514del (p.Ala26840GlnfsTer3)
c.106557del (p.Ala35521GlnfsTer3)
c.101955del (p.Ala33987GlnfsTer3)
c.101952del (p.Ala33986GlnfsTer3)
c.98994del (p.Ala33000GlnfsTer3)
c.80610del (p.Ala26872GlnfsTer3)
c.102105del (p.Ala34037GlnfsTer3)
c.102102del (p.Ala34036GlnfsTer3)
c.101535del (p.Ala33847GlnfsTer3)
c.98877del (p.Ala32961GlnfsTer3)
c.98796del (p.Ala32934GlnfsTer3)
c.80559del (p.Ala26855GlnfsTer3)
c.70413del (p.Ala23473GlnfsTer3)
 gnomAD v4
2g.178527463A>CCA349399752TTN,TTN-AS1c.99959T>G (p.Leu33320Arg)
c.81044T>G (p.Leu27015Arg)
c.80843T>G (p.Leu26948Arg)
c.80468T>G (p.Leu26823Arg)
c.107663T>G (p.Leu35888Arg)
c.102740T>G (p.Leu34247Arg)
n.446+3827A>C
n.219+3827A>C
c.106760T>G (p.Leu35587Arg)
c.80654T>G (p.Leu26885Arg)
c.80513T>G (p.Leu26838Arg)
c.106556T>G (p.Leu35519Arg)
c.101954T>G (p.Leu33985Arg)
c.101951T>G (p.Leu33984Arg)
c.98993T>G (p.Leu32998Arg)
c.80609T>G (p.Leu26870Arg)
c.102104T>G (p.Leu34035Arg)
c.102101T>G (p.Leu34034Arg)
c.101534T>G (p.Leu33845Arg)
c.98876T>G (p.Leu32959Arg)
c.98795T>G (p.Leu32932Arg)
c.80558T>G (p.Leu26853Arg)
c.70412T>G (p.Leu23471Arg)
2g.178527463A>GCA349399753TTN,TTN-AS1c.99959T>C (p.Leu33320Pro)
c.81044T>C (p.Leu27015Pro)
c.80843T>C (p.Leu26948Pro)
c.80468T>C (p.Leu26823Pro)
c.107663T>C (p.Leu35888Pro)
c.102740T>C (p.Leu34247Pro)
n.446+3827A>G
n.219+3827A>G
c.106760T>C (p.Leu35587Pro)
c.80654T>C (p.Leu26885Pro)
c.80513T>C (p.Leu26838Pro)
c.106556T>C (p.Leu35519Pro)
c.101954T>C (p.Leu33985Pro)
c.101951T>C (p.Leu33984Pro)
c.98993T>C (p.Leu32998Pro)
c.80609T>C (p.Leu26870Pro)
c.102104T>C (p.Leu34035Pro)
c.102101T>C (p.Leu34034Pro)
c.101534T>C (p.Leu33845Pro)
c.98876T>C (p.Leu32959Pro)
c.98795T>C (p.Leu32932Pro)
c.80558T>C (p.Leu26853Pro)
c.70412T>C (p.Leu23471Pro)
2g.178527463A>TCA349399755TTN,TTN-AS1c.99959T>A (p.Leu33320His)
c.81044T>A (p.Leu27015His)
c.80843T>A (p.Leu26948His)
c.80468T>A (p.Leu26823His)
c.107663T>A (p.Leu35888His)
c.102740T>A (p.Leu34247His)
n.446+3827A>T
n.219+3827A>T
c.106760T>A (p.Leu35587His)
c.80654T>A (p.Leu26885His)
c.80513T>A (p.Leu26838His)
c.106556T>A (p.Leu35519His)
c.101954T>A (p.Leu33985His)
c.101951T>A (p.Leu33984His)
c.98993T>A (p.Leu32998His)
c.80609T>A (p.Leu26870His)
c.102104T>A (p.Leu34035His)
c.102101T>A (p.Leu34034His)
c.101534T>A (p.Leu33845His)
c.98876T>A (p.Leu32959His)
c.98795T>A (p.Leu32932His)
c.80558T>A (p.Leu26853His)
c.70412T>A (p.Leu23471His)
2g.178527464G>ACA349399757TTN,TTN-AS1c.99958C>T (p.Leu33320Phe)
c.81043C>T (p.Leu27015Phe)
c.80842C>T (p.Leu26948Phe)
c.80467C>T (p.Leu26823Phe)
c.107662C>T (p.Leu35888Phe)
c.102739C>T (p.Leu34247Phe)
n.446+3828G>A
n.219+3828G>A
c.106759C>T (p.Leu35587Phe)
c.80653C>T (p.Leu26885Phe)
c.80512C>T (p.Leu26838Phe)
c.106555C>T (p.Leu35519Phe)
c.101953C>T (p.Leu33985Phe)
c.101950C>T (p.Leu33984Phe)
c.98992C>T (p.Leu32998Phe)
c.80608C>T (p.Leu26870Phe)
c.102103C>T (p.Leu34035Phe)
c.102100C>T (p.Leu34034Phe)
c.101533C>T (p.Leu33845Phe)
c.98875C>T (p.Leu32959Phe)
c.98794C>T (p.Leu32932Phe)
c.80557C>T (p.Leu26853Phe)
c.70411C>T (p.Leu23471Phe)
 gnomAD v4
2g.178527464G>CCA349399759TTN,TTN-AS1c.99958C>G (p.Leu33320Val)
c.81043C>G (p.Leu27015Val)
c.80842C>G (p.Leu26948Val)
c.80467C>G (p.Leu26823Val)
c.107662C>G (p.Leu35888Val)
c.102739C>G (p.Leu34247Val)
n.446+3828G>C
n.219+3828G>C
c.106759C>G (p.Leu35587Val)
c.80653C>G (p.Leu26885Val)
c.80512C>G (p.Leu26838Val)
c.106555C>G (p.Leu35519Val)
c.101953C>G (p.Leu33985Val)
c.101950C>G (p.Leu33984Val)
c.98992C>G (p.Leu32998Val)
c.80608C>G (p.Leu26870Val)
c.102103C>G (p.Leu34035Val)
c.102100C>G (p.Leu34034Val)
c.101533C>G (p.Leu33845Val)
c.98875C>G (p.Leu32959Val)
c.98794C>G (p.Leu32932Val)
c.80557C>G (p.Leu26853Val)
c.70411C>G (p.Leu23471Val)
2g.178527464G>TCA349399760TTN,TTN-AS1c.99958C>A (p.Leu33320Ile)
c.81043C>A (p.Leu27015Ile)
c.80842C>A (p.Leu26948Ile)
c.80467C>A (p.Leu26823Ile)
c.107662C>A (p.Leu35888Ile)
c.102739C>A (p.Leu34247Ile)
n.446+3828G>T
n.219+3828G>T
c.106759C>A (p.Leu35587Ile)
c.80653C>A (p.Leu26885Ile)
c.80512C>A (p.Leu26838Ile)
c.106555C>A (p.Leu35519Ile)
c.101953C>A (p.Leu33985Ile)
c.101950C>A (p.Leu33984Ile)
c.98992C>A (p.Leu32998Ile)
c.80608C>A (p.Leu26870Ile)
c.102103C>A (p.Leu34035Ile)
c.102100C>A (p.Leu34034Ile)
c.101533C>A (p.Leu33845Ile)
c.98875C>A (p.Leu32959Ile)
c.98794C>A (p.Leu32932Ile)
c.80557C>A (p.Leu26853Ile)
c.70411C>A (p.Leu23471Ile)
2g.178527465C>ACA349399761TTN,TTN-AS1c.99957G>T (p.Met33319Ile)
c.81042G>T (p.Met27014Ile)
c.80841G>T (p.Met26947Ile)
c.80466G>T (p.Met26822Ile)
c.107661G>T (p.Met35887Ile)
c.102738G>T (p.Met34246Ile)
n.446+3829C>A
n.219+3829C>A
c.106758G>T (p.Met35586Ile)
c.80652G>T (p.Met26884Ile)
c.80511G>T (p.Met26837Ile)
c.106554G>T (p.Met35518Ile)
c.101952G>T (p.Met33984Ile)
c.101949G>T (p.Met33983Ile)
c.98991G>T (p.Met32997Ile)
c.80607G>T (p.Met26869Ile)
c.102102G>T (p.Met34034Ile)
c.102099G>T (p.Met34033Ile)
c.101532G>T (p.Met33844Ile)
c.98874G>T (p.Met32958Ile)
c.98793G>T (p.Met32931Ile)
c.80556G>T (p.Met26852Ile)
c.70410G>T (p.Met23470Ile)
2g.178527465C=CA1310514482TTN,TTN-AS1c.99957G= (p.Met33319=)
c.81042G= (p.Met27014=)
c.80841G= (p.Met26947=)
c.80466G= (p.Met26822=)
c.107661G= (p.Met35887=)
c.102738G= (p.Met34246=)
n.446+3829C=
n.219+3829C=
c.106758G= (p.Met35586=)
c.80652G= (p.Met26884=)
c.80511G= (p.Met26837=)
c.106554G= (p.Met35518=)
c.101952G= (p.Met33984=)
c.101949G= (p.Met33983=)
c.98991G= (p.Met32997=)
c.80607G= (p.Met26869=)
c.102102G= (p.Met34034=)
c.102099G= (p.Met34033=)
c.101532G= (p.Met33844=)
c.98874G= (p.Met32958=)
c.98793G= (p.Met32931=)
c.80556G= (p.Met26852=)
c.70410G= (p.Met23470=)
2g.178527465C>GCA349399763TTN,TTN-AS1c.99957G>C (p.Met33319Ile)
c.81042G>C (p.Met27014Ile)
c.80841G>C (p.Met26947Ile)
c.80466G>C (p.Met26822Ile)
c.107661G>C (p.Met35887Ile)
c.102738G>C (p.Met34246Ile)
n.446+3829C>G
n.219+3829C>G
c.106758G>C (p.Met35586Ile)
c.80652G>C (p.Met26884Ile)
c.80511G>C (p.Met26837Ile)
c.106554G>C (p.Met35518Ile)
c.101952G>C (p.Met33984Ile)
c.101949G>C (p.Met33983Ile)
c.98991G>C (p.Met32997Ile)
c.80607G>C (p.Met26869Ile)
c.102102G>C (p.Met34034Ile)
c.102099G>C (p.Met34033Ile)
c.101532G>C (p.Met33844Ile)
c.98874G>C (p.Met32958Ile)
c.98793G>C (p.Met32931Ile)
c.80556G>C (p.Met26852Ile)
c.70410G>C (p.Met23470Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178527465C>TCA1984916TTN,TTN-AS1c.99957G>A (p.Met33319Ile)
c.81042G>A (p.Met27014Ile)
c.80841G>A (p.Met26947Ile)
c.80466G>A (p.Met26822Ile)
c.107661G>A (p.Met35887Ile)
c.102738G>A (p.Met34246Ile)
n.446+3829C>T
n.219+3829C>T
c.106758G>A (p.Met35586Ile)
c.80652G>A (p.Met26884Ile)
c.80511G>A (p.Met26837Ile)
c.106554G>A (p.Met35518Ile)
c.101952G>A (p.Met33984Ile)
c.101949G>A (p.Met33983Ile)
c.98991G>A (p.Met32997Ile)
c.80607G>A (p.Met26869Ile)
c.102102G>A (p.Met34034Ile)
c.102099G>A (p.Met34033Ile)
c.101532G>A (p.Met33844Ile)
c.98874G>A (p.Met32958Ile)
c.98793G>A (p.Met32931Ile)
c.80556G>A (p.Met26852Ile)
c.70410G>A (p.Met23470Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527466A>CCA349399771TTN,TTN-AS1c.99956T>G (p.Met33319Arg)
c.81041T>G (p.Met27014Arg)
c.80840T>G (p.Met26947Arg)
c.80465T>G (p.Met26822Arg)
c.107660T>G (p.Met35887Arg)
c.102737T>G (p.Met34246Arg)
n.446+3830A>C
n.219+3830A>C
c.106757T>G (p.Met35586Arg)
c.80651T>G (p.Met26884Arg)
c.80510T>G (p.Met26837Arg)
c.106553T>G (p.Met35518Arg)
c.101951T>G (p.Met33984Arg)
c.101948T>G (p.Met33983Arg)
c.98990T>G (p.Met32997Arg)
c.80606T>G (p.Met26869Arg)
c.102101T>G (p.Met34034Arg)
c.102098T>G (p.Met34033Arg)
c.101531T>G (p.Met33844Arg)
c.98873T>G (p.Met32958Arg)
c.98792T>G (p.Met32931Arg)
c.80555T>G (p.Met26852Arg)
c.70409T>G (p.Met23470Arg)
2g.178527466A>GCA349399769TTN,TTN-AS1c.99956T>C (p.Met33319Thr)
c.81041T>C (p.Met27014Thr)
c.80840T>C (p.Met26947Thr)
c.80465T>C (p.Met26822Thr)
c.107660T>C (p.Met35887Thr)
c.102737T>C (p.Met34246Thr)
n.446+3830A>G
n.219+3830A>G
c.106757T>C (p.Met35586Thr)
c.80651T>C (p.Met26884Thr)
c.80510T>C (p.Met26837Thr)
c.106553T>C (p.Met35518Thr)
c.101951T>C (p.Met33984Thr)
c.101948T>C (p.Met33983Thr)
c.98990T>C (p.Met32997Thr)
c.80606T>C (p.Met26869Thr)
c.102101T>C (p.Met34034Thr)
c.102098T>C (p.Met34033Thr)
c.101531T>C (p.Met33844Thr)
c.98873T>C (p.Met32958Thr)
c.98792T>C (p.Met32931Thr)
c.80555T>C (p.Met26852Thr)
c.70409T>C (p.Met23470Thr)
2g.178527466A>TCA349399768TTN,TTN-AS1c.99956T>A (p.Met33319Lys)
c.81041T>A (p.Met27014Lys)
c.80840T>A (p.Met26947Lys)
c.80465T>A (p.Met26822Lys)
c.107660T>A (p.Met35887Lys)
c.102737T>A (p.Met34246Lys)
n.446+3830A>T
n.219+3830A>T
c.106757T>A (p.Met35586Lys)
c.80651T>A (p.Met26884Lys)
c.80510T>A (p.Met26837Lys)
c.106553T>A (p.Met35518Lys)
c.101951T>A (p.Met33984Lys)
c.101948T>A (p.Met33983Lys)
c.98990T>A (p.Met32997Lys)
c.80606T>A (p.Met26869Lys)
c.102101T>A (p.Met34034Lys)
c.102098T>A (p.Met34033Lys)
c.101531T>A (p.Met33844Lys)
c.98873T>A (p.Met32958Lys)
c.98792T>A (p.Met32931Lys)
c.80555T>A (p.Met26852Lys)
c.70409T>A (p.Met23470Lys)
2g.178527467T>ACA349399775TTN,TTN-AS1c.99955A>T (p.Met33319Leu)
c.81040A>T (p.Met27014Leu)
c.80839A>T (p.Met26947Leu)
c.80464A>T (p.Met26822Leu)
c.107659A>T (p.Met35887Leu)
c.102736A>T (p.Met34246Leu)
n.446+3831T>A
n.219+3831T>A
c.106756A>T (p.Met35586Leu)
c.80650A>T (p.Met26884Leu)
c.80509A>T (p.Met26837Leu)
c.106552A>T (p.Met35518Leu)
c.101950A>T (p.Met33984Leu)
c.101947A>T (p.Met33983Leu)
c.98989A>T (p.Met32997Leu)
c.80605A>T (p.Met26869Leu)
c.102100A>T (p.Met34034Leu)
c.102097A>T (p.Met34033Leu)
c.101530A>T (p.Met33844Leu)
c.98872A>T (p.Met32958Leu)
c.98791A>T (p.Met32931Leu)
c.80554A>T (p.Met26852Leu)
c.70408A>T (p.Met23470Leu)
2g.178527467T>CCA349399773TTN,TTN-AS1c.99955A>G (p.Met33319Val)
c.81040A>G (p.Met27014Val)
c.80839A>G (p.Met26947Val)
c.80464A>G (p.Met26822Val)
c.107659A>G (p.Met35887Val)
c.102736A>G (p.Met34246Val)
n.446+3831T>C
n.219+3831T>C
c.106756A>G (p.Met35586Val)
c.80650A>G (p.Met26884Val)
c.80509A>G (p.Met26837Val)
c.106552A>G (p.Met35518Val)
c.101950A>G (p.Met33984Val)
c.101947A>G (p.Met33983Val)
c.98989A>G (p.Met32997Val)
c.80605A>G (p.Met26869Val)
c.102100A>G (p.Met34034Val)
c.102097A>G (p.Met34033Val)
c.101530A>G (p.Met33844Val)
c.98872A>G (p.Met32958Val)
c.98791A>G (p.Met32931Val)
c.80554A>G (p.Met26852Val)
c.70408A>G (p.Met23470Val)
2g.178527467T>GCA349399776TTN,TTN-AS1c.99955A>C (p.Met33319Leu)
c.81040A>C (p.Met27014Leu)
c.80839A>C (p.Met26947Leu)
c.80464A>C (p.Met26822Leu)
c.107659A>C (p.Met35887Leu)
c.102736A>C (p.Met34246Leu)
n.446+3831T>G
n.219+3831T>G
c.106756A>C (p.Met35586Leu)
c.80650A>C (p.Met26884Leu)
c.80509A>C (p.Met26837Leu)
c.106552A>C (p.Met35518Leu)
c.101950A>C (p.Met33984Leu)
c.101947A>C (p.Met33983Leu)
c.98989A>C (p.Met32997Leu)
c.80605A>C (p.Met26869Leu)
c.102100A>C (p.Met34034Leu)
c.102097A>C (p.Met34033Leu)
c.101530A>C (p.Met33844Leu)
c.98872A>C (p.Met32958Leu)
c.98791A>C (p.Met32931Leu)
c.80554A>C (p.Met26852Leu)
c.70408A>C (p.Met23470Leu)
2g.178527468T>ACA349399778TTN,TTN-AS1c.99954A>T (p.Lys33318Asn)
c.81039A>T (p.Lys27013Asn)
c.80838A>T (p.Lys26946Asn)
c.80463A>T (p.Lys26821Asn)
c.107658A>T (p.Lys35886Asn)
c.102735A>T (p.Lys34245Asn)
n.446+3832T>A
n.219+3832T>A
c.106755A>T (p.Lys35585Asn)
c.80649A>T (p.Lys26883Asn)
c.80508A>T (p.Lys26836Asn)
c.106551A>T (p.Lys35517Asn)
c.101949A>T (p.Lys33983Asn)
c.101946A>T (p.Lys33982Asn)
c.98988A>T (p.Lys32996Asn)
c.80604A>T (p.Lys26868Asn)
c.102099A>T (p.Lys34033Asn)
c.102096A>T (p.Lys34032Asn)
c.101529A>T (p.Lys33843Asn)
c.98871A>T (p.Lys32957Asn)
c.98790A>T (p.Lys32930Asn)
c.80553A>T (p.Lys26851Asn)
c.70407A>T (p.Lys23469Asn)
2g.178527468T>CCA430234137TTN,TTN-AS1c.99954A>G (p.Lys33318=)
c.81039A>G (p.Lys27013=)
c.80838A>G (p.Lys26946=)
c.80463A>G (p.Lys26821=)
c.107658A>G (p.Lys35886=)
c.102735A>G (p.Lys34245=)
n.446+3832T>C
n.219+3832T>C
c.106755A>G (p.Lys35585=)
c.80649A>G (p.Lys26883=)
c.80508A>G (p.Lys26836=)
c.106551A>G (p.Lys35517=)
c.101949A>G (p.Lys33983=)
c.101946A>G (p.Lys33982=)
c.98988A>G (p.Lys32996=)
c.80604A>G (p.Lys26868=)
c.102099A>G (p.Lys34033=)
c.102096A>G (p.Lys34032=)
c.101529A>G (p.Lys33843=)
c.98871A>G (p.Lys32957=)
c.98790A>G (p.Lys32930=)
c.80553A>G (p.Lys26851=)
c.70407A>G (p.Lys23469=)
2g.178527468T>GCA349399779TTN,TTN-AS1c.99954A>C (p.Lys33318Asn)
c.81039A>C (p.Lys27013Asn)
c.80838A>C (p.Lys26946Asn)
c.80463A>C (p.Lys26821Asn)
c.107658A>C (p.Lys35886Asn)
c.102735A>C (p.Lys34245Asn)
n.446+3832T>G
n.219+3832T>G
c.106755A>C (p.Lys35585Asn)
c.80649A>C (p.Lys26883Asn)
c.80508A>C (p.Lys26836Asn)
c.106551A>C (p.Lys35517Asn)
c.101949A>C (p.Lys33983Asn)
c.101946A>C (p.Lys33982Asn)
c.98988A>C (p.Lys32996Asn)
c.80604A>C (p.Lys26868Asn)
c.102099A>C (p.Lys34033Asn)
c.102096A>C (p.Lys34032Asn)
c.101529A>C (p.Lys33843Asn)
c.98871A>C (p.Lys32957Asn)
c.98790A>C (p.Lys32930Asn)
c.80553A>C (p.Lys26851Asn)
c.70407A>C (p.Lys23469Asn)
2g.178527469T>ACA349399781TTN,TTN-AS1c.99953A>T (p.Lys33318Ile)
c.81038A>T (p.Lys27013Ile)
c.80837A>T (p.Lys26946Ile)
c.80462A>T (p.Lys26821Ile)
c.107657A>T (p.Lys35886Ile)
c.102734A>T (p.Lys34245Ile)
n.446+3833T>A
n.219+3833T>A
c.106754A>T (p.Lys35585Ile)
c.80648A>T (p.Lys26883Ile)
c.80507A>T (p.Lys26836Ile)
c.106550A>T (p.Lys35517Ile)
c.101948A>T (p.Lys33983Ile)
c.101945A>T (p.Lys33982Ile)
c.98987A>T (p.Lys32996Ile)
c.80603A>T (p.Lys26868Ile)
c.102098A>T (p.Lys34033Ile)
c.102095A>T (p.Lys34032Ile)
c.101528A>T (p.Lys33843Ile)
c.98870A>T (p.Lys32957Ile)
c.98789A>T (p.Lys32930Ile)
c.80552A>T (p.Lys26851Ile)
c.70406A>T (p.Lys23469Ile)
2g.178527469T>CCA183096TTN,TTN-AS1c.99953A>G (p.Lys33318Arg)
c.81038A>G (p.Lys27013Arg)
c.80837A>G (p.Lys26946Arg)
c.80462A>G (p.Lys26821Arg)
c.107657A>G (p.Lys35886Arg)
c.102734A>G (p.Lys34245Arg)
n.446+3833T>C
n.219+3833T>C
c.106754A>G (p.Lys35585Arg)
c.80648A>G (p.Lys26883Arg)
c.80507A>G (p.Lys26836Arg)
c.106550A>G (p.Lys35517Arg)
c.101948A>G (p.Lys33983Arg)
c.101945A>G (p.Lys33982Arg)
c.98987A>G (p.Lys32996Arg)
c.80603A>G (p.Lys26868Arg)
c.102098A>G (p.Lys34033Arg)
c.102095A>G (p.Lys34032Arg)
c.101528A>G (p.Lys33843Arg)
c.98870A>G (p.Lys32957Arg)
c.98789A>G (p.Lys32930Arg)
c.80552A>G (p.Lys26851Arg)
c.70406A>G (p.Lys23469Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527469T>GCA349399782TTN,TTN-AS1c.99953A>C (p.Lys33318Thr)
c.81038A>C (p.Lys27013Thr)
c.80837A>C (p.Lys26946Thr)
c.80462A>C (p.Lys26821Thr)
c.107657A>C (p.Lys35886Thr)
c.102734A>C (p.Lys34245Thr)
n.446+3833T>G
n.219+3833T>G
c.106754A>C (p.Lys35585Thr)
c.80648A>C (p.Lys26883Thr)
c.80507A>C (p.Lys26836Thr)
c.106550A>C (p.Lys35517Thr)
c.101948A>C (p.Lys33983Thr)
c.101945A>C (p.Lys33982Thr)
c.98987A>C (p.Lys32996Thr)
c.80603A>C (p.Lys26868Thr)
c.102098A>C (p.Lys34033Thr)
c.102095A>C (p.Lys34032Thr)
c.101528A>C (p.Lys33843Thr)
c.98870A>C (p.Lys32957Thr)
c.98789A>C (p.Lys32930Thr)
c.80552A>C (p.Lys26851Thr)
c.70406A>C (p.Lys23469Thr)
2g.178527469T=CA1310514483TTN,TTN-AS1c.99953A= (p.Lys33318=)
c.81038A= (p.Lys27013=)
c.80837A= (p.Lys26946=)
c.80462A= (p.Lys26821=)
c.107657A= (p.Lys35886=)
c.102734A= (p.Lys34245=)
n.446+3833T=
n.219+3833T=
c.106754A= (p.Lys35585=)
c.80648A= (p.Lys26883=)
c.80507A= (p.Lys26836=)
c.106550A= (p.Lys35517=)
c.101948A= (p.Lys33983=)
c.101945A= (p.Lys33982=)
c.98987A= (p.Lys32996=)
c.80603A= (p.Lys26868=)
c.102098A= (p.Lys34033=)
c.102095A= (p.Lys34032=)
c.101528A= (p.Lys33843=)
c.98870A= (p.Lys32957=)
c.98789A= (p.Lys32930=)
c.80552A= (p.Lys26851=)
c.70406A= (p.Lys23469=)
2g.178527470T>ACA349399786TTN,TTN-AS1c.99952A>T (p.Lys33318Ter)
c.81037A>T (p.Lys27013Ter)
c.80836A>T (p.Lys26946Ter)
c.80461A>T (p.Lys26821Ter)
c.107656A>T (p.Lys35886Ter)
c.102733A>T (p.Lys34245Ter)
n.446+3834T>A
n.219+3834T>A
c.106753A>T (p.Lys35585Ter)
c.80647A>T (p.Lys26883Ter)
c.80506A>T (p.Lys26836Ter)
c.106549A>T (p.Lys35517Ter)
c.101947A>T (p.Lys33983Ter)
c.101944A>T (p.Lys33982Ter)
c.98986A>T (p.Lys32996Ter)
c.80602A>T (p.Lys26868Ter)
c.102097A>T (p.Lys34033Ter)
c.102094A>T (p.Lys34032Ter)
c.101527A>T (p.Lys33843Ter)
c.98869A>T (p.Lys32957Ter)
c.98788A>T (p.Lys32930Ter)
c.80551A>T (p.Lys26851Ter)
c.70405A>T (p.Lys23469Ter)
2g.178527470T>CCA349399787TTN,TTN-AS1c.99952A>G (p.Lys33318Glu)
c.81037A>G (p.Lys27013Glu)
c.80836A>G (p.Lys26946Glu)
c.80461A>G (p.Lys26821Glu)
c.107656A>G (p.Lys35886Glu)
c.102733A>G (p.Lys34245Glu)
n.446+3834T>C
n.219+3834T>C
c.106753A>G (p.Lys35585Glu)
c.80647A>G (p.Lys26883Glu)
c.80506A>G (p.Lys26836Glu)
c.106549A>G (p.Lys35517Glu)
c.101947A>G (p.Lys33983Glu)
c.101944A>G (p.Lys33982Glu)
c.98986A>G (p.Lys32996Glu)
c.80602A>G (p.Lys26868Glu)
c.102097A>G (p.Lys34033Glu)
c.102094A>G (p.Lys34032Glu)
c.101527A>G (p.Lys33843Glu)
c.98869A>G (p.Lys32957Glu)
c.98788A>G (p.Lys32930Glu)
c.80551A>G (p.Lys26851Glu)
c.70405A>G (p.Lys23469Glu)
 gnomAD v4
2g.178527470T>GCA349399788TTN,TTN-AS1c.99952A>C (p.Lys33318Gln)
c.81037A>C (p.Lys27013Gln)
c.80836A>C (p.Lys26946Gln)
c.80461A>C (p.Lys26821Gln)
c.107656A>C (p.Lys35886Gln)
c.102733A>C (p.Lys34245Gln)
n.446+3834T>G
n.219+3834T>G
c.106753A>C (p.Lys35585Gln)
c.80647A>C (p.Lys26883Gln)
c.80506A>C (p.Lys26836Gln)
c.106549A>C (p.Lys35517Gln)
c.101947A>C (p.Lys33983Gln)
c.101944A>C (p.Lys33982Gln)
c.98986A>C (p.Lys32996Gln)
c.80602A>C (p.Lys26868Gln)
c.102097A>C (p.Lys34033Gln)
c.102094A>C (p.Lys34032Gln)
c.101527A>C (p.Lys33843Gln)
c.98869A>C (p.Lys32957Gln)
c.98788A>C (p.Lys32930Gln)
c.80551A>C (p.Lys26851Gln)
c.70405A>C (p.Lys23469Gln)
2g.178527471A>CCA349399790TTN,TTN-AS1c.99951T>G (p.Ser33317Arg)
c.81036T>G (p.Ser27012Arg)
c.80835T>G (p.Ser26945Arg)
c.80460T>G (p.Ser26820Arg)
c.107655T>G (p.Ser35885Arg)
c.102732T>G (p.Ser34244Arg)
n.446+3835A>C
n.219+3835A>C
c.106752T>G (p.Ser35584Arg)
c.80646T>G (p.Ser26882Arg)
c.80505T>G (p.Ser26835Arg)
c.106548T>G (p.Ser35516Arg)
c.101946T>G (p.Ser33982Arg)
c.101943T>G (p.Ser33981Arg)
c.98985T>G (p.Ser32995Arg)
c.80601T>G (p.Ser26867Arg)
c.102096T>G (p.Ser34032Arg)
c.102093T>G (p.Ser34031Arg)
c.101526T>G (p.Ser33842Arg)
c.98868T>G (p.Ser32956Arg)
c.98787T>G (p.Ser32929Arg)
c.80550T>G (p.Ser26850Arg)
c.70404T>G (p.Ser23468Arg)
2g.178527471A>GCA430234144TTN,TTN-AS1c.99951T>C (p.Ser33317=)
c.81036T>C (p.Ser27012=)
c.80835T>C (p.Ser26945=)
c.80460T>C (p.Ser26820=)
c.107655T>C (p.Ser35885=)
c.102732T>C (p.Ser34244=)
n.446+3835A>G
n.219+3835A>G
c.106752T>C (p.Ser35584=)
c.80646T>C (p.Ser26882=)
c.80505T>C (p.Ser26835=)
c.106548T>C (p.Ser35516=)
c.101946T>C (p.Ser33982=)
c.101943T>C (p.Ser33981=)
c.98985T>C (p.Ser32995=)
c.80601T>C (p.Ser26867=)
c.102096T>C (p.Ser34032=)
c.102093T>C (p.Ser34031=)
c.101526T>C (p.Ser33842=)
c.98868T>C (p.Ser32956=)
c.98787T>C (p.Ser32929=)
c.80550T>C (p.Ser26850=)
c.70404T>C (p.Ser23468=)
2g.178527471A>TCA349399792TTN,TTN-AS1c.99951T>A (p.Ser33317Arg)
c.81036T>A (p.Ser27012Arg)
c.80835T>A (p.Ser26945Arg)
c.80460T>A (p.Ser26820Arg)
c.107655T>A (p.Ser35885Arg)
c.102732T>A (p.Ser34244Arg)
n.446+3835A>T
n.219+3835A>T
c.106752T>A (p.Ser35584Arg)
c.80646T>A (p.Ser26882Arg)
c.80505T>A (p.Ser26835Arg)
c.106548T>A (p.Ser35516Arg)
c.101946T>A (p.Ser33982Arg)
c.101943T>A (p.Ser33981Arg)
c.98985T>A (p.Ser32995Arg)
c.80601T>A (p.Ser26867Arg)
c.102096T>A (p.Ser34032Arg)
c.102093T>A (p.Ser34031Arg)
c.101526T>A (p.Ser33842Arg)
c.98868T>A (p.Ser32956Arg)
c.98787T>A (p.Ser32929Arg)
c.80550T>A (p.Ser26850Arg)
c.70404T>A (p.Ser23468Arg)
2g.178527472C>ACA349399794TTN,TTN-AS1c.99950G>T (p.Ser33317Ile)
c.81035G>T (p.Ser27012Ile)
c.80834G>T (p.Ser26945Ile)
c.80459G>T (p.Ser26820Ile)
c.107654G>T (p.Ser35885Ile)
c.102731G>T (p.Ser34244Ile)
n.446+3836C>A
n.219+3836C>A
c.106751G>T (p.Ser35584Ile)
c.80645G>T (p.Ser26882Ile)
c.80504G>T (p.Ser26835Ile)
c.106547G>T (p.Ser35516Ile)
c.101945G>T (p.Ser33982Ile)
c.101942G>T (p.Ser33981Ile)
c.98984G>T (p.Ser32995Ile)
c.80600G>T (p.Ser26867Ile)
c.102095G>T (p.Ser34032Ile)
c.102092G>T (p.Ser34031Ile)
c.101525G>T (p.Ser33842Ile)
c.98867G>T (p.Ser32956Ile)
c.98786G>T (p.Ser32929Ile)
c.80549G>T (p.Ser26850Ile)
c.70403G>T (p.Ser23468Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178527472C=CA1310514484TTN,TTN-AS1c.99950G= (p.Ser33317=)
c.81035G= (p.Ser27012=)
c.80834G= (p.Ser26945=)
c.80459G= (p.Ser26820=)
c.107654G= (p.Ser35885=)
c.102731G= (p.Ser34244=)
n.446+3836C=
n.219+3836C=
c.106751G= (p.Ser35584=)
c.80645G= (p.Ser26882=)
c.80504G= (p.Ser26835=)
c.106547G= (p.Ser35516=)
c.101945G= (p.Ser33982=)
c.101942G= (p.Ser33981=)
c.98984G= (p.Ser32995=)
c.80600G= (p.Ser26867=)
c.102095G= (p.Ser34032=)
c.102092G= (p.Ser34031=)
c.101525G= (p.Ser33842=)
c.98867G= (p.Ser32956=)
c.98786G= (p.Ser32929=)
c.80549G= (p.Ser26850=)
c.70403G= (p.Ser23468=)
2g.178527472C>GCA349399795TTN,TTN-AS1c.99950G>C (p.Ser33317Thr)
c.81035G>C (p.Ser27012Thr)
c.80834G>C (p.Ser26945Thr)
c.80459G>C (p.Ser26820Thr)
c.107654G>C (p.Ser35885Thr)
c.102731G>C (p.Ser34244Thr)
n.446+3836C>G
n.219+3836C>G
c.106751G>C (p.Ser35584Thr)
c.80645G>C (p.Ser26882Thr)
c.80504G>C (p.Ser26835Thr)
c.106547G>C (p.Ser35516Thr)
c.101945G>C (p.Ser33982Thr)
c.101942G>C (p.Ser33981Thr)
c.98984G>C (p.Ser32995Thr)
c.80600G>C (p.Ser26867Thr)
c.102095G>C (p.Ser34032Thr)
c.102092G>C (p.Ser34031Thr)
c.101525G>C (p.Ser33842Thr)
c.98867G>C (p.Ser32956Thr)
c.98786G>C (p.Ser32929Thr)
c.80549G>C (p.Ser26850Thr)
c.70403G>C (p.Ser23468Thr)
 dbSNP
2g.178527472C>TCA349399797TTN,TTN-AS1c.99950G>A (p.Ser33317Asn)
c.81035G>A (p.Ser27012Asn)
c.80834G>A (p.Ser26945Asn)
c.80459G>A (p.Ser26820Asn)
c.107654G>A (p.Ser35885Asn)
c.102731G>A (p.Ser34244Asn)
n.446+3836C>T
n.219+3836C>T
c.106751G>A (p.Ser35584Asn)
c.80645G>A (p.Ser26882Asn)
c.80504G>A (p.Ser26835Asn)
c.106547G>A (p.Ser35516Asn)
c.101945G>A (p.Ser33982Asn)
c.101942G>A (p.Ser33981Asn)
c.98984G>A (p.Ser32995Asn)
c.80600G>A (p.Ser26867Asn)
c.102095G>A (p.Ser34032Asn)
c.102092G>A (p.Ser34031Asn)
c.101525G>A (p.Ser33842Asn)
c.98867G>A (p.Ser32956Asn)
c.98786G>A (p.Ser32929Asn)
c.80549G>A (p.Ser26850Asn)
c.70403G>A (p.Ser23468Asn)
2g.178527473T>ACA349399799TTN,TTN-AS1c.99949A>T (p.Ser33317Cys)
c.81034A>T (p.Ser27012Cys)
c.80833A>T (p.Ser26945Cys)
c.80458A>T (p.Ser26820Cys)
c.107653A>T (p.Ser35885Cys)
c.102730A>T (p.Ser34244Cys)
n.446+3837T>A
n.219+3837T>A
c.106750A>T (p.Ser35584Cys)
c.80644A>T (p.Ser26882Cys)
c.80503A>T (p.Ser26835Cys)
c.106546A>T (p.Ser35516Cys)
c.101944A>T (p.Ser33982Cys)
c.101941A>T (p.Ser33981Cys)
c.98983A>T (p.Ser32995Cys)
c.80599A>T (p.Ser26867Cys)
c.102094A>T (p.Ser34032Cys)
c.102091A>T (p.Ser34031Cys)
c.101524A>T (p.Ser33842Cys)
c.98866A>T (p.Ser32956Cys)
c.98785A>T (p.Ser32929Cys)
c.80548A>T (p.Ser26850Cys)
c.70402A>T (p.Ser23468Cys)
2g.178527473T>CCA349399800TTN,TTN-AS1c.99949A>G (p.Ser33317Gly)
c.81034A>G (p.Ser27012Gly)
c.80833A>G (p.Ser26945Gly)
c.80458A>G (p.Ser26820Gly)
c.107653A>G (p.Ser35885Gly)
c.102730A>G (p.Ser34244Gly)
n.446+3837T>C
n.219+3837T>C
c.106750A>G (p.Ser35584Gly)
c.80644A>G (p.Ser26882Gly)
c.80503A>G (p.Ser26835Gly)
c.106546A>G (p.Ser35516Gly)
c.101944A>G (p.Ser33982Gly)
c.101941A>G (p.Ser33981Gly)
c.98983A>G (p.Ser32995Gly)
c.80599A>G (p.Ser26867Gly)
c.102094A>G (p.Ser34032Gly)
c.102091A>G (p.Ser34031Gly)
c.101524A>G (p.Ser33842Gly)
c.98866A>G (p.Ser32956Gly)
c.98785A>G (p.Ser32929Gly)
c.80548A>G (p.Ser26850Gly)
c.70402A>G (p.Ser23468Gly)
 ClinVar
2g.178527473T>GCA349399802TTN,TTN-AS1c.99949A>C (p.Ser33317Arg)
c.81034A>C (p.Ser27012Arg)
c.80833A>C (p.Ser26945Arg)
c.80458A>C (p.Ser26820Arg)
c.107653A>C (p.Ser35885Arg)
c.102730A>C (p.Ser34244Arg)
n.446+3837T>G
n.219+3837T>G
c.106750A>C (p.Ser35584Arg)
c.80644A>C (p.Ser26882Arg)
c.80503A>C (p.Ser26835Arg)
c.106546A>C (p.Ser35516Arg)
c.101944A>C (p.Ser33982Arg)
c.101941A>C (p.Ser33981Arg)
c.98983A>C (p.Ser32995Arg)
c.80599A>C (p.Ser26867Arg)
c.102094A>C (p.Ser34032Arg)
c.102091A>C (p.Ser34031Arg)
c.101524A>C (p.Ser33842Arg)
c.98866A>C (p.Ser32956Arg)
c.98785A>C (p.Ser32929Arg)
c.80548A>C (p.Ser26850Arg)
c.70402A>C (p.Ser23468Arg)
2g.178527474A>CCA430234152TTN,TTN-AS1c.99948T>G (p.Thr33316=)
c.81033T>G (p.Thr27011=)
c.80832T>G (p.Thr26944=)
c.80457T>G (p.Thr26819=)
c.107652T>G (p.Thr35884=)
c.102729T>G (p.Thr34243=)
n.446+3838A>C
n.219+3838A>C
c.106749T>G (p.Thr35583=)
c.80643T>G (p.Thr26881=)
c.80502T>G (p.Thr26834=)
c.106545T>G (p.Thr35515=)
c.101943T>G (p.Thr33981=)
c.101940T>G (p.Thr33980=)
c.98982T>G (p.Thr32994=)
c.80598T>G (p.Thr26866=)
c.102093T>G (p.Thr34031=)
c.102090T>G (p.Thr34030=)
c.101523T>G (p.Thr33841=)
c.98865T>G (p.Thr32955=)
c.98784T>G (p.Thr32928=)
c.80547T>G (p.Thr26849=)
c.70401T>G (p.Thr23467=)
2g.178527474A>GCA430234154TTN,TTN-AS1c.99948T>C (p.Thr33316=)
c.81033T>C (p.Thr27011=)
c.80832T>C (p.Thr26944=)
c.80457T>C (p.Thr26819=)
c.107652T>C (p.Thr35884=)
c.102729T>C (p.Thr34243=)
n.446+3838A>G
n.219+3838A>G
c.106749T>C (p.Thr35583=)
c.80643T>C (p.Thr26881=)
c.80502T>C (p.Thr26834=)
c.106545T>C (p.Thr35515=)
c.101943T>C (p.Thr33981=)
c.101940T>C (p.Thr33980=)
c.98982T>C (p.Thr32994=)
c.80598T>C (p.Thr26866=)
c.102093T>C (p.Thr34031=)
c.102090T>C (p.Thr34030=)
c.101523T>C (p.Thr33841=)
c.98865T>C (p.Thr32955=)
c.98784T>C (p.Thr32928=)
c.80547T>C (p.Thr26849=)
c.70401T>C (p.Thr23467=)
2g.178527474A>TCA430234153TTN,TTN-AS1c.99948T>A (p.Thr33316=)
c.81033T>A (p.Thr27011=)
c.80832T>A (p.Thr26944=)
c.80457T>A (p.Thr26819=)
c.107652T>A (p.Thr35884=)
c.102729T>A (p.Thr34243=)
n.446+3838A>T
n.219+3838A>T
c.106749T>A (p.Thr35583=)
c.80643T>A (p.Thr26881=)
c.80502T>A (p.Thr26834=)
c.106545T>A (p.Thr35515=)
c.101943T>A (p.Thr33981=)
c.101940T>A (p.Thr33980=)
c.98982T>A (p.Thr32994=)
c.80598T>A (p.Thr26866=)
c.102093T>A (p.Thr34031=)
c.102090T>A (p.Thr34030=)
c.101523T>A (p.Thr33841=)
c.98865T>A (p.Thr32955=)
c.98784T>A (p.Thr32928=)
c.80547T>A (p.Thr26849=)
c.70401T>A (p.Thr23467=)
2g.178527475G>ACA349399807TTN,TTN-AS1c.99947C>T (p.Thr33316Ile)
c.81032C>T (p.Thr27011Ile)
c.80831C>T (p.Thr26944Ile)
c.80456C>T (p.Thr26819Ile)
c.107651C>T (p.Thr35884Ile)
c.102728C>T (p.Thr34243Ile)
n.446+3839G>A
n.219+3839G>A
c.106748C>T (p.Thr35583Ile)
c.80642C>T (p.Thr26881Ile)
c.80501C>T (p.Thr26834Ile)
c.106544C>T (p.Thr35515Ile)
c.101942C>T (p.Thr33981Ile)
c.101939C>T (p.Thr33980Ile)
c.98981C>T (p.Thr32994Ile)
c.80597C>T (p.Thr26866Ile)
c.102092C>T (p.Thr34031Ile)
c.102089C>T (p.Thr34030Ile)
c.101522C>T (p.Thr33841Ile)
c.98864C>T (p.Thr32955Ile)
c.98783C>T (p.Thr32928Ile)
c.80546C>T (p.Thr26849Ile)
c.70400C>T (p.Thr23467Ile)
2g.178527475G>CCA349399804TTN,TTN-AS1c.99947C>G (p.Thr33316Ser)
c.81032C>G (p.Thr27011Ser)
c.80831C>G (p.Thr26944Ser)
c.80456C>G (p.Thr26819Ser)
c.107651C>G (p.Thr35884Ser)
c.102728C>G (p.Thr34243Ser)
n.446+3839G>C
n.219+3839G>C
c.106748C>G (p.Thr35583Ser)
c.80642C>G (p.Thr26881Ser)
c.80501C>G (p.Thr26834Ser)
c.106544C>G (p.Thr35515Ser)
c.101942C>G (p.Thr33981Ser)
c.101939C>G (p.Thr33980Ser)
c.98981C>G (p.Thr32994Ser)
c.80597C>G (p.Thr26866Ser)
c.102092C>G (p.Thr34031Ser)
c.102089C>G (p.Thr34030Ser)
c.101522C>G (p.Thr33841Ser)
c.98864C>G (p.Thr32955Ser)
c.98783C>G (p.Thr32928Ser)
c.80546C>G (p.Thr26849Ser)
c.70400C>G (p.Thr23467Ser)
2g.178527475G>TCA349399805TTN,TTN-AS1c.99947C>A (p.Thr33316Asn)
c.81032C>A (p.Thr27011Asn)
c.80831C>A (p.Thr26944Asn)
c.80456C>A (p.Thr26819Asn)
c.107651C>A (p.Thr35884Asn)
c.102728C>A (p.Thr34243Asn)
n.446+3839G>T
n.219+3839G>T
c.106748C>A (p.Thr35583Asn)
c.80642C>A (p.Thr26881Asn)
c.80501C>A (p.Thr26834Asn)
c.106544C>A (p.Thr35515Asn)
c.101942C>A (p.Thr33981Asn)
c.101939C>A (p.Thr33980Asn)
c.98981C>A (p.Thr32994Asn)
c.80597C>A (p.Thr26866Asn)
c.102092C>A (p.Thr34031Asn)
c.102089C>A (p.Thr34030Asn)
c.101522C>A (p.Thr33841Asn)
c.98864C>A (p.Thr32955Asn)
c.98783C>A (p.Thr32928Asn)
c.80546C>A (p.Thr26849Asn)
c.70400C>A (p.Thr23467Asn)
2g.178527476T>ACA349399809TTN,TTN-AS1c.99946A>T (p.Thr33316Ser)
c.81031A>T (p.Thr27011Ser)
c.80830A>T (p.Thr26944Ser)
c.80455A>T (p.Thr26819Ser)
c.107650A>T (p.Thr35884Ser)
c.102727A>T (p.Thr34243Ser)
n.446+3840T>A
n.219+3840T>A
c.106747A>T (p.Thr35583Ser)
c.80641A>T (p.Thr26881Ser)
c.80500A>T (p.Thr26834Ser)
c.106543A>T (p.Thr35515Ser)
c.101941A>T (p.Thr33981Ser)
c.101938A>T (p.Thr33980Ser)
c.98980A>T (p.Thr32994Ser)
c.80596A>T (p.Thr26866Ser)
c.102091A>T (p.Thr34031Ser)
c.102088A>T (p.Thr34030Ser)
c.101521A>T (p.Thr33841Ser)
c.98863A>T (p.Thr32955Ser)
c.98782A>T (p.Thr32928Ser)
c.80545A>T (p.Thr26849Ser)
c.70399A>T (p.Thr23467Ser)
2g.178527476T>CCA349399810TTN,TTN-AS1c.99946A>G (p.Thr33316Ala)
c.81031A>G (p.Thr27011Ala)
c.80830A>G (p.Thr26944Ala)
c.80455A>G (p.Thr26819Ala)
c.107650A>G (p.Thr35884Ala)
c.102727A>G (p.Thr34243Ala)
n.446+3840T>C
n.219+3840T>C
c.106747A>G (p.Thr35583Ala)
c.80641A>G (p.Thr26881Ala)
c.80500A>G (p.Thr26834Ala)
c.106543A>G (p.Thr35515Ala)
c.101941A>G (p.Thr33981Ala)
c.101938A>G (p.Thr33980Ala)
c.98980A>G (p.Thr32994Ala)
c.80596A>G (p.Thr26866Ala)
c.102091A>G (p.Thr34031Ala)
c.102088A>G (p.Thr34030Ala)
c.101521A>G (p.Thr33841Ala)
c.98863A>G (p.Thr32955Ala)
c.98782A>G (p.Thr32928Ala)
c.80545A>G (p.Thr26849Ala)
c.70399A>G (p.Thr23467Ala)
2g.178527476T>GCA349399812TTN,TTN-AS1c.99946A>C (p.Thr33316Pro)
c.81031A>C (p.Thr27011Pro)
c.80830A>C (p.Thr26944Pro)
c.80455A>C (p.Thr26819Pro)
c.107650A>C (p.Thr35884Pro)
c.102727A>C (p.Thr34243Pro)
n.446+3840T>G
n.219+3840T>G
c.106747A>C (p.Thr35583Pro)
c.80641A>C (p.Thr26881Pro)
c.80500A>C (p.Thr26834Pro)
c.106543A>C (p.Thr35515Pro)
c.101941A>C (p.Thr33981Pro)
c.101938A>C (p.Thr33980Pro)
c.98980A>C (p.Thr32994Pro)
c.80596A>C (p.Thr26866Pro)
c.102091A>C (p.Thr34031Pro)
c.102088A>C (p.Thr34030Pro)
c.101521A>C (p.Thr33841Pro)
c.98863A>C (p.Thr32955Pro)
c.98782A>C (p.Thr32928Pro)
c.80545A>C (p.Thr26849Pro)
c.70399A>C (p.Thr23467Pro)
2g.178527477delCA2580064621TTN,TTN-AS1c.99946del (p.Thr33316LeufsTer9)
c.81031del (p.Thr27011LeufsTer9)
c.80830del (p.Thr26944LeufsTer9)
c.80455del (p.Thr26819LeufsTer9)
c.107650del (p.Thr35884LeufsTer9)
c.102727del (p.Thr34243LeufsTer9)
n.446+3841del
n.219+3841del
c.106747del (p.Thr35583LeufsTer9)
c.80641del (p.Thr26881LeufsTer9)
c.80500del (p.Thr26834LeufsTer9)
c.106543del (p.Thr35515LeufsTer9)
c.101941del (p.Thr33981LeufsTer9)
c.101938del (p.Thr33980LeufsTer9)
c.98980del (p.Thr32994LeufsTer9)
c.80596del (p.Thr26866LeufsTer9)
c.102091del (p.Thr34031LeufsTer9)
c.102088del (p.Thr34030LeufsTer9)
c.101521del (p.Thr33841LeufsTer9)
c.98863del (p.Thr32955LeufsTer9)
c.98782del (p.Thr32928LeufsTer9)
c.80545del (p.Thr26849LeufsTer9)
c.70399del (p.Thr23467LeufsTer9)
 ClinVar
2g.178527477T>ACA430234157TTN,TTN-AS1c.99945A>T (p.Ser33315=)
c.81030A>T (p.Ser27010=)
c.80829A>T (p.Ser26943=)
c.80454A>T (p.Ser26818=)
c.107649A>T (p.Ser35883=)
c.102726A>T (p.Ser34242=)
n.446+3841T>A
n.219+3841T>A
c.106746A>T (p.Ser35582=)
c.80640A>T (p.Ser26880=)
c.80499A>T (p.Ser26833=)
c.106542A>T (p.Ser35514=)
c.101940A>T (p.Ser33980=)
c.101937A>T (p.Ser33979=)
c.98979A>T (p.Ser32993=)
c.80595A>T (p.Ser26865=)
c.102090A>T (p.Ser34030=)
c.102087A>T (p.Ser34029=)
c.101520A>T (p.Ser33840=)
c.98862A>T (p.Ser32954=)
c.98781A>T (p.Ser32927=)
c.80544A>T (p.Ser26848=)
c.70398A>T (p.Ser23466=)
 ClinVar dbSNP
2g.178527477T>CCA430234158TTN,TTN-AS1c.99945A>G (p.Ser33315=)
c.81030A>G (p.Ser27010=)
c.80829A>G (p.Ser26943=)
c.80454A>G (p.Ser26818=)
c.107649A>G (p.Ser35883=)
c.102726A>G (p.Ser34242=)
n.446+3841T>C
n.219+3841T>C
c.106746A>G (p.Ser35582=)
c.80640A>G (p.Ser26880=)
c.80499A>G (p.Ser26833=)
c.106542A>G (p.Ser35514=)
c.101940A>G (p.Ser33980=)
c.101937A>G (p.Ser33979=)
c.98979A>G (p.Ser32993=)
c.80595A>G (p.Ser26865=)
c.102090A>G (p.Ser34030=)
c.102087A>G (p.Ser34029=)
c.101520A>G (p.Ser33840=)
c.98862A>G (p.Ser32954=)
c.98781A>G (p.Ser32927=)
c.80544A>G (p.Ser26848=)
c.70398A>G (p.Ser23466=)
2g.178527477T>GCA430234159TTN,TTN-AS1c.99945A>C (p.Ser33315=)
c.81030A>C (p.Ser27010=)
c.80829A>C (p.Ser26943=)
c.80454A>C (p.Ser26818=)
c.107649A>C (p.Ser35883=)
c.102726A>C (p.Ser34242=)
n.446+3841T>G
n.219+3841T>G
c.106746A>C (p.Ser35582=)
c.80640A>C (p.Ser26880=)
c.80499A>C (p.Ser26833=)
c.106542A>C (p.Ser35514=)
c.101940A>C (p.Ser33980=)
c.101937A>C (p.Ser33979=)
c.98979A>C (p.Ser32993=)
c.80595A>C (p.Ser26865=)
c.102090A>C (p.Ser34030=)
c.102087A>C (p.Ser34029=)
c.101520A>C (p.Ser33840=)
c.98862A>C (p.Ser32954=)
c.98781A>C (p.Ser32927=)
c.80544A>C (p.Ser26848=)
c.70398A>C (p.Ser23466=)
2g.178527477T=CA1310514485TTN,TTN-AS1c.99945A= (p.Ser33315=)
c.81030A= (p.Ser27010=)
c.80829A= (p.Ser26943=)
c.80454A= (p.Ser26818=)
c.107649A= (p.Ser35883=)
c.102726A= (p.Ser34242=)
n.446+3841T=
n.219+3841T=
c.106746A= (p.Ser35582=)
c.80640A= (p.Ser26880=)
c.80499A= (p.Ser26833=)
c.106542A= (p.Ser35514=)
c.101940A= (p.Ser33980=)
c.101937A= (p.Ser33979=)
c.98979A= (p.Ser32993=)
c.80595A= (p.Ser26865=)
c.102090A= (p.Ser34030=)
c.102087A= (p.Ser34029=)
c.101520A= (p.Ser33840=)
c.98862A= (p.Ser32954=)
c.98781A= (p.Ser32927=)
c.80544A= (p.Ser26848=)
c.70398A= (p.Ser23466=)
2g.178527478G>ACA349399814TTN,TTN-AS1c.99944C>T (p.Ser33315Leu)
c.81029C>T (p.Ser27010Leu)
c.80828C>T (p.Ser26943Leu)
c.80453C>T (p.Ser26818Leu)
c.107648C>T (p.Ser35883Leu)
c.102725C>T (p.Ser34242Leu)
n.446+3842G>A
n.219+3842G>A
c.106745C>T (p.Ser35582Leu)
c.80639C>T (p.Ser26880Leu)
c.80498C>T (p.Ser26833Leu)
c.106541C>T (p.Ser35514Leu)
c.101939C>T (p.Ser33980Leu)
c.101936C>T (p.Ser33979Leu)
c.98978C>T (p.Ser32993Leu)
c.80594C>T (p.Ser26865Leu)
c.102089C>T (p.Ser34030Leu)
c.102086C>T (p.Ser34029Leu)
c.101519C>T (p.Ser33840Leu)
c.98861C>T (p.Ser32954Leu)
c.98780C>T (p.Ser32927Leu)
c.80543C>T (p.Ser26848Leu)
c.70397C>T (p.Ser23466Leu)
 gnomAD v4
2g.178527478G>CCA349399815TTN,TTN-AS1c.99944C>G (p.Ser33315Ter)
c.81029C>G (p.Ser27010Ter)
c.80828C>G (p.Ser26943Ter)
c.80453C>G (p.Ser26818Ter)
c.107648C>G (p.Ser35883Ter)
c.102725C>G (p.Ser34242Ter)
n.446+3842G>C
n.219+3842G>C
c.106745C>G (p.Ser35582Ter)
c.80639C>G (p.Ser26880Ter)
c.80498C>G (p.Ser26833Ter)
c.106541C>G (p.Ser35514Ter)
c.101939C>G (p.Ser33980Ter)
c.101936C>G (p.Ser33979Ter)
c.98978C>G (p.Ser32993Ter)
c.80594C>G (p.Ser26865Ter)
c.102089C>G (p.Ser34030Ter)
c.102086C>G (p.Ser34029Ter)
c.101519C>G (p.Ser33840Ter)
c.98861C>G (p.Ser32954Ter)
c.98780C>G (p.Ser32927Ter)
c.80543C>G (p.Ser26848Ter)
c.70397C>G (p.Ser23466Ter)
2g.178527478G>TCA349399816TTN,TTN-AS1c.99944C>A (p.Ser33315Ter)
c.81029C>A (p.Ser27010Ter)
c.80828C>A (p.Ser26943Ter)
c.80453C>A (p.Ser26818Ter)
c.107648C>A (p.Ser35883Ter)
c.102725C>A (p.Ser34242Ter)
n.446+3842G>T
n.219+3842G>T
c.106745C>A (p.Ser35582Ter)
c.80639C>A (p.Ser26880Ter)
c.80498C>A (p.Ser26833Ter)
c.106541C>A (p.Ser35514Ter)
c.101939C>A (p.Ser33980Ter)
c.101936C>A (p.Ser33979Ter)
c.98978C>A (p.Ser32993Ter)
c.80594C>A (p.Ser26865Ter)
c.102089C>A (p.Ser34030Ter)
c.102086C>A (p.Ser34029Ter)
c.101519C>A (p.Ser33840Ter)
c.98861C>A (p.Ser32954Ter)
c.98780C>A (p.Ser32927Ter)
c.80543C>A (p.Ser26848Ter)
c.70397C>A (p.Ser23466Ter)
2g.178527478_178527479delinsGACA1310514486TTN,TTN-AS1c.99943_99944delinsTC (p.Ser33315=)
c.81028_81029delinsTC (p.Ser27010=)
c.80827_80828delinsTC (p.Ser26943=)
c.80452_80453delinsTC (p.Ser26818=)
c.107647_107648delinsTC (p.Ser35883=)
c.102724_102725delinsTC (p.Ser34242=)
n.446+3842_446+3843delinsGA
n.219+3842_219+3843delinsGA
c.106744_106745delinsTC (p.Ser35582=)
c.80638_80639delinsTC (p.Ser26880=)
c.80497_80498delinsTC (p.Ser26833=)
c.106540_106541delinsTC (p.Ser35514=)
c.101938_101939delinsTC (p.Ser33980=)
c.101935_101936delinsTC (p.Ser33979=)
c.98977_98978delinsTC (p.Ser32993=)
c.80593_80594delinsTC (p.Ser26865=)
c.102088_102089delinsTC (p.Ser34030=)
c.102085_102086delinsTC (p.Ser34029=)
c.101518_101519delinsTC (p.Ser33840=)
c.98860_98861delinsTC (p.Ser32954=)
c.98779_98780delinsTC (p.Ser32927=)
c.80542_80543delinsTC (p.Ser26848=)
c.70396_70397delinsTC (p.Ser23466=)
2g.178527479delCA343100TTN,TTN-AS1c.99943del (p.Ser33315GlnfsTer10)
c.81028del (p.Ser27010GlnfsTer10)
c.80827del (p.Ser26943GlnfsTer10)
c.80452del (p.Ser26818GlnfsTer10)
c.107647del (p.Ser35883GlnfsTer10)
c.102724del (p.Ser34242GlnfsTer10)
n.446+3843del
n.219+3843del
c.106744del (p.Ser35582GlnfsTer10)
c.80638del (p.Ser26880GlnfsTer10)
c.80497del (p.Ser26833GlnfsTer10)
c.106540del (p.Ser35514GlnfsTer10)
c.101938del (p.Ser33980GlnfsTer10)
c.101935del (p.Ser33979GlnfsTer10)
c.98977del (p.Ser32993GlnfsTer10)
c.80593del (p.Ser26865GlnfsTer10)
c.102088del (p.Ser34030GlnfsTer10)
c.102085del (p.Ser34029GlnfsTer10)
c.101518del (p.Ser33840GlnfsTer10)
c.98860del (p.Ser32954GlnfsTer10)
c.98779del (p.Ser32927GlnfsTer10)
c.80542del (p.Ser26848GlnfsTer10)
c.70396del (p.Ser23466GlnfsTer10)
 ClinVar dbSNP
2g.178527479A=CA1310514487TTN,TTN-AS1c.99943T= (p.Ser33315=)
c.81028T= (p.Ser27010=)
c.80827T= (p.Ser26943=)
c.80452T= (p.Ser26818=)
c.107647T= (p.Ser35883=)
c.102724T= (p.Ser34242=)
n.446+3843A=
n.219+3843A=
c.106744T= (p.Ser35582=)
c.80638T= (p.Ser26880=)
c.80497T= (p.Ser26833=)
c.106540T= (p.Ser35514=)
c.101938T= (p.Ser33980=)
c.101935T= (p.Ser33979=)
c.98977T= (p.Ser32993=)
c.80593T= (p.Ser26865=)
c.102088T= (p.Ser34030=)
c.102085T= (p.Ser34029=)
c.101518T= (p.Ser33840=)
c.98860T= (p.Ser32954=)
c.98779T= (p.Ser32927=)
c.80542T= (p.Ser26848=)
c.70396T= (p.Ser23466=)
2g.178527479A>CCA349399818TTN,TTN-AS1c.99943T>G (p.Ser33315Ala)
c.81028T>G (p.Ser27010Ala)
c.80827T>G (p.Ser26943Ala)
c.80452T>G (p.Ser26818Ala)
c.107647T>G (p.Ser35883Ala)
c.102724T>G (p.Ser34242Ala)
n.446+3843A>C
n.219+3843A>C
c.106744T>G (p.Ser35582Ala)
c.80638T>G (p.Ser26880Ala)
c.80497T>G (p.Ser26833Ala)
c.106540T>G (p.Ser35514Ala)
c.101938T>G (p.Ser33980Ala)
c.101935T>G (p.Ser33979Ala)
c.98977T>G (p.Ser32993Ala)
c.80593T>G (p.Ser26865Ala)
c.102088T>G (p.Ser34030Ala)
c.102085T>G (p.Ser34029Ala)
c.101518T>G (p.Ser33840Ala)
c.98860T>G (p.Ser32954Ala)
c.98779T>G (p.Ser32927Ala)
c.80542T>G (p.Ser26848Ala)
c.70396T>G (p.Ser23466Ala)
 ClinVar dbSNP gnomAD v4
2g.178527479A>GCA349399820TTN,TTN-AS1c.99943T>C (p.Ser33315Pro)
c.81028T>C (p.Ser27010Pro)
c.80827T>C (p.Ser26943Pro)
c.80452T>C (p.Ser26818Pro)
c.107647T>C (p.Ser35883Pro)
c.102724T>C (p.Ser34242Pro)
n.446+3843A>G
n.219+3843A>G
c.106744T>C (p.Ser35582Pro)
c.80638T>C (p.Ser26880Pro)
c.80497T>C (p.Ser26833Pro)
c.106540T>C (p.Ser35514Pro)
c.101938T>C (p.Ser33980Pro)
c.101935T>C (p.Ser33979Pro)
c.98977T>C (p.Ser32993Pro)
c.80593T>C (p.Ser26865Pro)
c.102088T>C (p.Ser34030Pro)
c.102085T>C (p.Ser34029Pro)
c.101518T>C (p.Ser33840Pro)
c.98860T>C (p.Ser32954Pro)
c.98779T>C (p.Ser32927Pro)
c.80542T>C (p.Ser26848Pro)
c.70396T>C (p.Ser23466Pro)
2g.178527479A>TCA349399821TTN,TTN-AS1c.99943T>A (p.Ser33315Thr)
c.81028T>A (p.Ser27010Thr)
c.80827T>A (p.Ser26943Thr)
c.80452T>A (p.Ser26818Thr)
c.107647T>A (p.Ser35883Thr)
c.102724T>A (p.Ser34242Thr)
n.446+3843A>T
n.219+3843A>T
c.106744T>A (p.Ser35582Thr)
c.80638T>A (p.Ser26880Thr)
c.80497T>A (p.Ser26833Thr)
c.106540T>A (p.Ser35514Thr)
c.101938T>A (p.Ser33980Thr)
c.101935T>A (p.Ser33979Thr)
c.98977T>A (p.Ser32993Thr)
c.80593T>A (p.Ser26865Thr)
c.102088T>A (p.Ser34030Thr)
c.102085T>A (p.Ser34029Thr)
c.101518T>A (p.Ser33840Thr)
c.98860T>A (p.Ser32954Thr)
c.98779T>A (p.Ser32927Thr)
c.80542T>A (p.Ser26848Thr)
c.70396T>A (p.Ser23466Thr)
2g.178527480G>ACA430234167TTN,TTN-AS1c.99942C>T (p.Ser33314=)
c.81027C>T (p.Ser27009=)
c.80826C>T (p.Ser26942=)
c.80451C>T (p.Ser26817=)
c.107646C>T (p.Ser35882=)
c.102723C>T (p.Ser34241=)
n.446+3844G>A
n.219+3844G>A
c.106743C>T (p.Ser35581=)
c.80637C>T (p.Ser26879=)
c.80496C>T (p.Ser26832=)
c.106539C>T (p.Ser35513=)
c.101937C>T (p.Ser33979=)
c.101934C>T (p.Ser33978=)
c.98976C>T (p.Ser32992=)
c.80592C>T (p.Ser26864=)
c.102087C>T (p.Ser34029=)
c.102084C>T (p.Ser34028=)
c.101517C>T (p.Ser33839=)
c.98859C>T (p.Ser32953=)
c.98778C>T (p.Ser32926=)
c.80541C>T (p.Ser26847=)
c.70395C>T (p.Ser23465=)
2g.178527480G>CCA349399824TTN,TTN-AS1c.99942C>G (p.Ser33314Arg)
c.81027C>G (p.Ser27009Arg)
c.80826C>G (p.Ser26942Arg)
c.80451C>G (p.Ser26817Arg)
c.107646C>G (p.Ser35882Arg)
c.102723C>G (p.Ser34241Arg)
n.446+3844G>C
n.219+3844G>C
c.106743C>G (p.Ser35581Arg)
c.80637C>G (p.Ser26879Arg)
c.80496C>G (p.Ser26832Arg)
c.106539C>G (p.Ser35513Arg)
c.101937C>G (p.Ser33979Arg)
c.101934C>G (p.Ser33978Arg)
c.98976C>G (p.Ser32992Arg)
c.80592C>G (p.Ser26864Arg)
c.102087C>G (p.Ser34029Arg)
c.102084C>G (p.Ser34028Arg)
c.101517C>G (p.Ser33839Arg)
c.98859C>G (p.Ser32953Arg)
c.98778C>G (p.Ser32926Arg)
c.80541C>G (p.Ser26847Arg)
c.70395C>G (p.Ser23465Arg)
2g.178527480G>TCA349399822TTN,TTN-AS1c.99942C>A (p.Ser33314Arg)
c.81027C>A (p.Ser27009Arg)
c.80826C>A (p.Ser26942Arg)
c.80451C>A (p.Ser26817Arg)
c.107646C>A (p.Ser35882Arg)
c.102723C>A (p.Ser34241Arg)
n.446+3844G>T
n.219+3844G>T
c.106743C>A (p.Ser35581Arg)
c.80637C>A (p.Ser26879Arg)
c.80496C>A (p.Ser26832Arg)
c.106539C>A (p.Ser35513Arg)
c.101937C>A (p.Ser33979Arg)
c.101934C>A (p.Ser33978Arg)
c.98976C>A (p.Ser32992Arg)
c.80592C>A (p.Ser26864Arg)
c.102087C>A (p.Ser34029Arg)
c.102084C>A (p.Ser34028Arg)
c.101517C>A (p.Ser33839Arg)
c.98859C>A (p.Ser32953Arg)
c.98778C>A (p.Ser32926Arg)
c.80541C>A (p.Ser26847Arg)
c.70395C>A (p.Ser23465Arg)
2g.178527481C>ACA349399826TTN,TTN-AS1c.99941G>T (p.Ser33314Ile)
c.81026G>T (p.Ser27009Ile)
c.80825G>T (p.Ser26942Ile)
c.80450G>T (p.Ser26817Ile)
c.107645G>T (p.Ser35882Ile)
c.102722G>T (p.Ser34241Ile)
n.446+3845C>A
n.219+3845C>A
c.106742G>T (p.Ser35581Ile)
c.80636G>T (p.Ser26879Ile)
c.80495G>T (p.Ser26832Ile)
c.106538G>T (p.Ser35513Ile)
c.101936G>T (p.Ser33979Ile)
c.101933G>T (p.Ser33978Ile)
c.98975G>T (p.Ser32992Ile)
c.80591G>T (p.Ser26864Ile)
c.102086G>T (p.Ser34029Ile)
c.102083G>T (p.Ser34028Ile)
c.101516G>T (p.Ser33839Ile)
c.98858G>T (p.Ser32953Ile)
c.98777G>T (p.Ser32926Ile)
c.80540G>T (p.Ser26847Ile)
c.70394G>T (p.Ser23465Ile)
 ClinVar gnomAD v4
2g.178527481C=CA1310514489TTN,TTN-AS1c.99941G= (p.Ser33314=)
c.81026G= (p.Ser27009=)
c.80825G= (p.Ser26942=)
c.80450G= (p.Ser26817=)
c.107645G= (p.Ser35882=)
c.102722G= (p.Ser34241=)
n.446+3845C=
n.219+3845C=
c.106742G= (p.Ser35581=)
c.80636G= (p.Ser26879=)
c.80495G= (p.Ser26832=)
c.106538G= (p.Ser35513=)
c.101936G= (p.Ser33979=)
c.101933G= (p.Ser33978=)
c.98975G= (p.Ser32992=)
c.80591G= (p.Ser26864=)
c.102086G= (p.Ser34029=)
c.102083G= (p.Ser34028=)
c.101516G= (p.Ser33839=)
c.98858G= (p.Ser32953=)
c.98777G= (p.Ser32926=)
c.80540G= (p.Ser26847=)
c.70394G= (p.Ser23465=)
2g.178527481C>GCA349399828TTN,TTN-AS1c.99941G>C (p.Ser33314Thr)
c.81026G>C (p.Ser27009Thr)
c.80825G>C (p.Ser26942Thr)
c.80450G>C (p.Ser26817Thr)
c.107645G>C (p.Ser35882Thr)
c.102722G>C (p.Ser34241Thr)
n.446+3845C>G
n.219+3845C>G
c.106742G>C (p.Ser35581Thr)
c.80636G>C (p.Ser26879Thr)
c.80495G>C (p.Ser26832Thr)
c.106538G>C (p.Ser35513Thr)
c.101936G>C (p.Ser33979Thr)
c.101933G>C (p.Ser33978Thr)
c.98975G>C (p.Ser32992Thr)
c.80591G>C (p.Ser26864Thr)
c.102086G>C (p.Ser34029Thr)
c.102083G>C (p.Ser34028Thr)
c.101516G>C (p.Ser33839Thr)
c.98858G>C (p.Ser32953Thr)
c.98777G>C (p.Ser32926Thr)
c.80540G>C (p.Ser26847Thr)
c.70394G>C (p.Ser23465Thr)
2g.178527481C>TCA349399829TTN,TTN-AS1c.99941G>A (p.Ser33314Asn)
c.81026G>A (p.Ser27009Asn)
c.80825G>A (p.Ser26942Asn)
c.80450G>A (p.Ser26817Asn)
c.107645G>A (p.Ser35882Asn)
c.102722G>A (p.Ser34241Asn)
n.446+3845C>T
n.219+3845C>T
c.106742G>A (p.Ser35581Asn)
c.80636G>A (p.Ser26879Asn)
c.80495G>A (p.Ser26832Asn)
c.106538G>A (p.Ser35513Asn)
c.101936G>A (p.Ser33979Asn)
c.101933G>A (p.Ser33978Asn)
c.98975G>A (p.Ser32992Asn)
c.80591G>A (p.Ser26864Asn)
c.102086G>A (p.Ser34029Asn)
c.102083G>A (p.Ser34028Asn)
c.101516G>A (p.Ser33839Asn)
c.98858G>A (p.Ser32953Asn)
c.98777G>A (p.Ser32926Asn)
c.80540G>A (p.Ser26847Asn)
c.70394G>A (p.Ser23465Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527481_178527482delinsCTCA1310514488TTN,TTN-AS1c.99940_99941delinsAG (p.Ser33314=)
c.81025_81026delinsAG (p.Ser27009=)
c.80824_80825delinsAG (p.Ser26942=)
c.80449_80450delinsAG (p.Ser26817=)
c.107644_107645delinsAG (p.Ser35882=)
c.102721_102722delinsAG (p.Ser34241=)
n.446+3845_446+3846delinsCT
n.219+3845_219+3846delinsCT
c.106741_106742delinsAG (p.Ser35581=)
c.80635_80636delinsAG (p.Ser26879=)
c.80494_80495delinsAG (p.Ser26832=)
c.106537_106538delinsAG (p.Ser35513=)
c.101935_101936delinsAG (p.Ser33979=)
c.101932_101933delinsAG (p.Ser33978=)
c.98974_98975delinsAG (p.Ser32992=)
c.80590_80591delinsAG (p.Ser26864=)
c.102085_102086delinsAG (p.Ser34029=)
c.102082_102083delinsAG (p.Ser34028=)
c.101515_101516delinsAG (p.Ser33839=)
c.98857_98858delinsAG (p.Ser32953=)
c.98776_98777delinsAG (p.Ser32926=)
c.80539_80540delinsAG (p.Ser26847=)
c.70393_70394delinsAG (p.Ser23465=)
2g.178527482T>ACA349399830TTN,TTN-AS1c.99940A>T (p.Ser33314Cys)
c.81025A>T (p.Ser27009Cys)
c.80824A>T (p.Ser26942Cys)
c.80449A>T (p.Ser26817Cys)
c.107644A>T (p.Ser35882Cys)
c.102721A>T (p.Ser34241Cys)
n.446+3846T>A
n.219+3846T>A
c.106741A>T (p.Ser35581Cys)
c.80635A>T (p.Ser26879Cys)
c.80494A>T (p.Ser26832Cys)
c.106537A>T (p.Ser35513Cys)
c.101935A>T (p.Ser33979Cys)
c.101932A>T (p.Ser33978Cys)
c.98974A>T (p.Ser32992Cys)
c.80590A>T (p.Ser26864Cys)
c.102085A>T (p.Ser34029Cys)
c.102082A>T (p.Ser34028Cys)
c.101515A>T (p.Ser33839Cys)
c.98857A>T (p.Ser32953Cys)
c.98776A>T (p.Ser32926Cys)
c.80539A>T (p.Ser26847Cys)
c.70393A>T (p.Ser23465Cys)
2g.178527482T>CCA349399832TTN,TTN-AS1c.99940A>G (p.Ser33314Gly)
c.81025A>G (p.Ser27009Gly)
c.80824A>G (p.Ser26942Gly)
c.80449A>G (p.Ser26817Gly)
c.107644A>G (p.Ser35882Gly)
c.102721A>G (p.Ser34241Gly)
n.446+3846T>C
n.219+3846T>C
c.106741A>G (p.Ser35581Gly)
c.80635A>G (p.Ser26879Gly)
c.80494A>G (p.Ser26832Gly)
c.106537A>G (p.Ser35513Gly)
c.101935A>G (p.Ser33979Gly)
c.101932A>G (p.Ser33978Gly)
c.98974A>G (p.Ser32992Gly)
c.80590A>G (p.Ser26864Gly)
c.102085A>G (p.Ser34029Gly)
c.102082A>G (p.Ser34028Gly)
c.101515A>G (p.Ser33839Gly)
c.98857A>G (p.Ser32953Gly)
c.98776A>G (p.Ser32926Gly)
c.80539A>G (p.Ser26847Gly)
c.70393A>G (p.Ser23465Gly)
2g.178527482T>GCA349399834TTN,TTN-AS1c.99940A>C (p.Ser33314Arg)
c.81025A>C (p.Ser27009Arg)
c.80824A>C (p.Ser26942Arg)
c.80449A>C (p.Ser26817Arg)
c.107644A>C (p.Ser35882Arg)
c.102721A>C (p.Ser34241Arg)
n.446+3846T>G
n.219+3846T>G
c.106741A>C (p.Ser35581Arg)
c.80635A>C (p.Ser26879Arg)
c.80494A>C (p.Ser26832Arg)
c.106537A>C (p.Ser35513Arg)
c.101935A>C (p.Ser33979Arg)
c.101932A>C (p.Ser33978Arg)
c.98974A>C (p.Ser32992Arg)
c.80590A>C (p.Ser26864Arg)
c.102085A>C (p.Ser34029Arg)
c.102082A>C (p.Ser34028Arg)
c.101515A>C (p.Ser33839Arg)
c.98857A>C (p.Ser32953Arg)
c.98776A>C (p.Ser32926Arg)
c.80539A>C (p.Ser26847Arg)
c.70393A>C (p.Ser23465Arg)
2g.178527484delCA538434930TTN,TTN-AS1c.99940del (p.Ser33314AlafsTer11)
c.81025del (p.Ser27009AlafsTer11)
c.80824del (p.Ser26942AlafsTer11)
c.80449del (p.Ser26817AlafsTer11)
c.107644del (p.Ser35882AlafsTer11)
c.102721del (p.Ser34241AlafsTer11)
n.446+3848del
n.219+3848del
c.106741del (p.Ser35581AlafsTer11)
c.80635del (p.Ser26879AlafsTer11)
c.80494del (p.Ser26832AlafsTer11)
c.106537del (p.Ser35513AlafsTer11)
c.101935del (p.Ser33979AlafsTer11)
c.101932del (p.Ser33978AlafsTer11)
c.98974del (p.Ser32992AlafsTer11)
c.80590del (p.Ser26864AlafsTer11)
c.102085del (p.Ser34029AlafsTer11)
c.102082del (p.Ser34028AlafsTer11)
c.101515del (p.Ser33839AlafsTer11)
c.98857del (p.Ser32953AlafsTer11)
c.98776del (p.Ser32926AlafsTer11)
c.80539del (p.Ser26847AlafsTer11)
c.70393del (p.Ser23465AlafsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527483T>ACA349399837TTN,TTN-AS1c.99939A>T (p.Glu33313Asp)
c.81024A>T (p.Glu27008Asp)
c.80823A>T (p.Glu26941Asp)
c.80448A>T (p.Glu26816Asp)
c.107643A>T (p.Glu35881Asp)
c.102720A>T (p.Glu34240Asp)
n.446+3847T>A
n.219+3847T>A
c.106740A>T (p.Glu35580Asp)
c.80634A>T (p.Glu26878Asp)
c.80493A>T (p.Glu26831Asp)
c.106536A>T (p.Glu35512Asp)
c.101934A>T (p.Glu33978Asp)
c.101931A>T (p.Glu33977Asp)
c.98973A>T (p.Glu32991Asp)
c.80589A>T (p.Glu26863Asp)
c.102084A>T (p.Glu34028Asp)
c.102081A>T (p.Glu34027Asp)
c.101514A>T (p.Glu33838Asp)
c.98856A>T (p.Glu32952Asp)
c.98775A>T (p.Glu32925Asp)
c.80538A>T (p.Glu26846Asp)
c.70392A>T (p.Glu23464Asp)
2g.178527483T>CCA430234170TTN,TTN-AS1c.99939A>G (p.Glu33313=)
c.81024A>G (p.Glu27008=)
c.80823A>G (p.Glu26941=)
c.80448A>G (p.Glu26816=)
c.107643A>G (p.Glu35881=)
c.102720A>G (p.Glu34240=)
n.446+3847T>C
n.219+3847T>C
c.106740A>G (p.Glu35580=)
c.80634A>G (p.Glu26878=)
c.80493A>G (p.Glu26831=)
c.106536A>G (p.Glu35512=)
c.101934A>G (p.Glu33978=)
c.101931A>G (p.Glu33977=)
c.98973A>G (p.Glu32991=)
c.80589A>G (p.Glu26863=)
c.102084A>G (p.Glu34028=)
c.102081A>G (p.Glu34027=)
c.101514A>G (p.Glu33838=)
c.98856A>G (p.Glu32952=)
c.98775A>G (p.Glu32925=)
c.80538A>G (p.Glu26846=)
c.70392A>G (p.Glu23464=)
 gnomAD v4
2g.178527483T>GCA349399836TTN,TTN-AS1c.99939A>C (p.Glu33313Asp)
c.81024A>C (p.Glu27008Asp)
c.80823A>C (p.Glu26941Asp)
c.80448A>C (p.Glu26816Asp)
c.107643A>C (p.Glu35881Asp)
c.102720A>C (p.Glu34240Asp)
n.446+3847T>G
n.219+3847T>G
c.106740A>C (p.Glu35580Asp)
c.80634A>C (p.Glu26878Asp)
c.80493A>C (p.Glu26831Asp)
c.106536A>C (p.Glu35512Asp)
c.101934A>C (p.Glu33978Asp)
c.101931A>C (p.Glu33977Asp)
c.98973A>C (p.Glu32991Asp)
c.80589A>C (p.Glu26863Asp)
c.102084A>C (p.Glu34028Asp)
c.102081A>C (p.Glu34027Asp)
c.101514A>C (p.Glu33838Asp)
c.98856A>C (p.Glu32952Asp)
c.98775A>C (p.Glu32925Asp)
c.80538A>C (p.Glu26846Asp)
c.70392A>C (p.Glu23464Asp)
2g.178527484T>ACA349399838TTN,TTN-AS1c.99938A>T (p.Glu33313Val)
c.81023A>T (p.Glu27008Val)
c.80822A>T (p.Glu26941Val)
c.80447A>T (p.Glu26816Val)
c.107642A>T (p.Glu35881Val)
c.102719A>T (p.Glu34240Val)
n.446+3848T>A
n.219+3848T>A
c.106739A>T (p.Glu35580Val)
c.80633A>T (p.Glu26878Val)
c.80492A>T (p.Glu26831Val)
c.106535A>T (p.Glu35512Val)
c.101933A>T (p.Glu33978Val)
c.101930A>T (p.Glu33977Val)
c.98972A>T (p.Glu32991Val)
c.80588A>T (p.Glu26863Val)
c.102083A>T (p.Glu34028Val)
c.102080A>T (p.Glu34027Val)
c.101513A>T (p.Glu33838Val)
c.98855A>T (p.Glu32952Val)
c.98774A>T (p.Glu32925Val)
c.80537A>T (p.Glu26846Val)
c.70391A>T (p.Glu23464Val)
2g.178527484T>CCA349399839TTN,TTN-AS1c.99938A>G (p.Glu33313Gly)
c.81023A>G (p.Glu27008Gly)
c.80822A>G (p.Glu26941Gly)
c.80447A>G (p.Glu26816Gly)
c.107642A>G (p.Glu35881Gly)
c.102719A>G (p.Glu34240Gly)
n.446+3848T>C
n.219+3848T>C
c.106739A>G (p.Glu35580Gly)
c.80633A>G (p.Glu26878Gly)
c.80492A>G (p.Glu26831Gly)
c.106535A>G (p.Glu35512Gly)
c.101933A>G (p.Glu33978Gly)
c.101930A>G (p.Glu33977Gly)
c.98972A>G (p.Glu32991Gly)
c.80588A>G (p.Glu26863Gly)
c.102083A>G (p.Glu34028Gly)
c.102080A>G (p.Glu34027Gly)
c.101513A>G (p.Glu33838Gly)
c.98855A>G (p.Glu32952Gly)
c.98774A>G (p.Glu32925Gly)
c.80537A>G (p.Glu26846Gly)
c.70391A>G (p.Glu23464Gly)
 ClinVar dbSNP
2g.178527484T>GCA349399840TTN,TTN-AS1c.99938A>C (p.Glu33313Ala)
c.81023A>C (p.Glu27008Ala)
c.80822A>C (p.Glu26941Ala)
c.80447A>C (p.Glu26816Ala)
c.107642A>C (p.Glu35881Ala)
c.102719A>C (p.Glu34240Ala)
n.446+3848T>G
n.219+3848T>G
c.106739A>C (p.Glu35580Ala)
c.80633A>C (p.Glu26878Ala)
c.80492A>C (p.Glu26831Ala)
c.106535A>C (p.Glu35512Ala)
c.101933A>C (p.Glu33978Ala)
c.101930A>C (p.Glu33977Ala)
c.98972A>C (p.Glu32991Ala)
c.80588A>C (p.Glu26863Ala)
c.102083A>C (p.Glu34028Ala)
c.102080A>C (p.Glu34027Ala)
c.101513A>C (p.Glu33838Ala)
c.98855A>C (p.Glu32952Ala)
c.98774A>C (p.Glu32925Ala)
c.80537A>C (p.Glu26846Ala)
c.70391A>C (p.Glu23464Ala)
2g.178527484T=CA1310514490TTN,TTN-AS1c.99938A= (p.Glu33313=)
c.81023A= (p.Glu27008=)
c.80822A= (p.Glu26941=)
c.80447A= (p.Glu26816=)
c.107642A= (p.Glu35881=)
c.102719A= (p.Glu34240=)
n.446+3848T=
n.219+3848T=
c.106739A= (p.Glu35580=)
c.80633A= (p.Glu26878=)
c.80492A= (p.Glu26831=)
c.106535A= (p.Glu35512=)
c.101933A= (p.Glu33978=)
c.101930A= (p.Glu33977=)
c.98972A= (p.Glu32991=)
c.80588A= (p.Glu26863=)
c.102083A= (p.Glu34028=)
c.102080A= (p.Glu34027=)
c.101513A= (p.Glu33838=)
c.98855A= (p.Glu32952=)
c.98774A= (p.Glu32925=)
c.80537A= (p.Glu26846=)
c.70391A= (p.Glu23464=)
2g.178527485C>ACA349399842TTN,TTN-AS1c.99937G>T (p.Glu33313Ter)
c.81022G>T (p.Glu27008Ter)
c.80821G>T (p.Glu26941Ter)
c.80446G>T (p.Glu26816Ter)
c.107641G>T (p.Glu35881Ter)
c.102718G>T (p.Glu34240Ter)
n.446+3849C>A
n.219+3849C>A
c.106738G>T (p.Glu35580Ter)
c.80632G>T (p.Glu26878Ter)
c.80491G>T (p.Glu26831Ter)
c.106534G>T (p.Glu35512Ter)
c.101932G>T (p.Glu33978Ter)
c.101929G>T (p.Glu33977Ter)
c.98971G>T (p.Glu32991Ter)
c.80587G>T (p.Glu26863Ter)
c.102082G>T (p.Glu34028Ter)
c.102079G>T (p.Glu34027Ter)
c.101512G>T (p.Glu33838Ter)
c.98854G>T (p.Glu32952Ter)
c.98773G>T (p.Glu32925Ter)
c.80536G>T (p.Glu26846Ter)
c.70390G>T (p.Glu23464Ter)
 ClinVar gnomAD v4
2g.178527485C>GCA349399844TTN,TTN-AS1c.99937G>C (p.Glu33313Gln)
c.81022G>C (p.Glu27008Gln)
c.80821G>C (p.Glu26941Gln)
c.80446G>C (p.Glu26816Gln)
c.107641G>C (p.Glu35881Gln)
c.102718G>C (p.Glu34240Gln)
n.446+3849C>G
n.219+3849C>G
c.106738G>C (p.Glu35580Gln)
c.80632G>C (p.Glu26878Gln)
c.80491G>C (p.Glu26831Gln)
c.106534G>C (p.Glu35512Gln)
c.101932G>C (p.Glu33978Gln)
c.101929G>C (p.Glu33977Gln)
c.98971G>C (p.Glu32991Gln)
c.80587G>C (p.Glu26863Gln)
c.102082G>C (p.Glu34028Gln)
c.102079G>C (p.Glu34027Gln)
c.101512G>C (p.Glu33838Gln)
c.98854G>C (p.Glu32952Gln)
c.98773G>C (p.Glu32925Gln)
c.80536G>C (p.Glu26846Gln)
c.70390G>C (p.Glu23464Gln)
2g.178527485C>TCA349399845TTN,TTN-AS1c.99937G>A (p.Glu33313Lys)
c.81022G>A (p.Glu27008Lys)
c.80821G>A (p.Glu26941Lys)
c.80446G>A (p.Glu26816Lys)
c.107641G>A (p.Glu35881Lys)
c.102718G>A (p.Glu34240Lys)
n.446+3849C>T
n.219+3849C>T
c.106738G>A (p.Glu35580Lys)
c.80632G>A (p.Glu26878Lys)
c.80491G>A (p.Glu26831Lys)
c.106534G>A (p.Glu35512Lys)
c.101932G>A (p.Glu33978Lys)
c.101929G>A (p.Glu33977Lys)
c.98971G>A (p.Glu32991Lys)
c.80587G>A (p.Glu26863Lys)
c.102082G>A (p.Glu34028Lys)
c.102079G>A (p.Glu34027Lys)
c.101512G>A (p.Glu33838Lys)
c.98854G>A (p.Glu32952Lys)
c.98773G>A (p.Glu32925Lys)
c.80536G>A (p.Glu26846Lys)
c.70390G>A (p.Glu23464Lys)
 gnomAD v4
2g.178527486C>ACA430234176TTN,TTN-AS1c.99936G>T (p.Leu33312=)
c.81021G>T (p.Leu27007=)
c.80820G>T (p.Leu26940=)
c.80445G>T (p.Leu26815=)
c.107640G>T (p.Leu35880=)
c.102717G>T (p.Leu34239=)
n.446+3850C>A
n.219+3850C>A
c.106737G>T (p.Leu35579=)
c.80631G>T (p.Leu26877=)
c.80490G>T (p.Leu26830=)
c.106533G>T (p.Leu35511=)
c.101931G>T (p.Leu33977=)
c.101928G>T (p.Leu33976=)
c.98970G>T (p.Leu32990=)
c.80586G>T (p.Leu26862=)
c.102081G>T (p.Leu34027=)
c.102078G>T (p.Leu34026=)
c.101511G>T (p.Leu33837=)
c.98853G>T (p.Leu32951=)
c.98772G>T (p.Leu32924=)
c.80535G>T (p.Leu26845=)
c.70389G>T (p.Leu23463=)
2g.178527486C>GCA430234177TTN,TTN-AS1c.99936G>C (p.Leu33312=)
c.81021G>C (p.Leu27007=)
c.80820G>C (p.Leu26940=)
c.80445G>C (p.Leu26815=)
c.107640G>C (p.Leu35880=)
c.102717G>C (p.Leu34239=)
n.446+3850C>G
n.219+3850C>G
c.106737G>C (p.Leu35579=)
c.80631G>C (p.Leu26877=)
c.80490G>C (p.Leu26830=)
c.106533G>C (p.Leu35511=)
c.101931G>C (p.Leu33977=)
c.101928G>C (p.Leu33976=)
c.98970G>C (p.Leu32990=)
c.80586G>C (p.Leu26862=)
c.102081G>C (p.Leu34027=)
c.102078G>C (p.Leu34026=)
c.101511G>C (p.Leu33837=)
c.98853G>C (p.Leu32951=)
c.98772G>C (p.Leu32924=)
c.80535G>C (p.Leu26845=)
c.70389G>C (p.Leu23463=)
2g.178527486C>TCA430234178TTN,TTN-AS1c.99936G>A (p.Leu33312=)
c.81021G>A (p.Leu27007=)
c.80820G>A (p.Leu26940=)
c.80445G>A (p.Leu26815=)
c.107640G>A (p.Leu35880=)
c.102717G>A (p.Leu34239=)
n.446+3850C>T
n.219+3850C>T
c.106737G>A (p.Leu35579=)
c.80631G>A (p.Leu26877=)
c.80490G>A (p.Leu26830=)
c.106533G>A (p.Leu35511=)
c.101931G>A (p.Leu33977=)
c.101928G>A (p.Leu33976=)
c.98970G>A (p.Leu32990=)
c.80586G>A (p.Leu26862=)
c.102081G>A (p.Leu34027=)
c.102078G>A (p.Leu34026=)
c.101511G>A (p.Leu33837=)
c.98853G>A (p.Leu32951=)
c.98772G>A (p.Leu32924=)
c.80535G>A (p.Leu26845=)
c.70389G>A (p.Leu23463=)
2g.178527487A>CCA349399847TTN,TTN-AS1c.99935T>G (p.Leu33312Arg)
c.81020T>G (p.Leu27007Arg)
c.80819T>G (p.Leu26940Arg)
c.80444T>G (p.Leu26815Arg)
c.107639T>G (p.Leu35880Arg)
c.102716T>G (p.Leu34239Arg)
n.446+3851A>C
n.219+3851A>C
c.106736T>G (p.Leu35579Arg)
c.80630T>G (p.Leu26877Arg)
c.80489T>G (p.Leu26830Arg)
c.106532T>G (p.Leu35511Arg)
c.101930T>G (p.Leu33977Arg)
c.101927T>G (p.Leu33976Arg)
c.98969T>G (p.Leu32990Arg)
c.80585T>G (p.Leu26862Arg)
c.102080T>G (p.Leu34027Arg)
c.102077T>G (p.Leu34026Arg)
c.101510T>G (p.Leu33837Arg)
c.98852T>G (p.Leu32951Arg)
c.98771T>G (p.Leu32924Arg)
c.80534T>G (p.Leu26845Arg)
c.70388T>G (p.Leu23463Arg)
2g.178527487A>GCA349399850TTN,TTN-AS1c.99935T>C (p.Leu33312Pro)
c.81020T>C (p.Leu27007Pro)
c.80819T>C (p.Leu26940Pro)
c.80444T>C (p.Leu26815Pro)
c.107639T>C (p.Leu35880Pro)
c.102716T>C (p.Leu34239Pro)
n.446+3851A>G
n.219+3851A>G
c.106736T>C (p.Leu35579Pro)
c.80630T>C (p.Leu26877Pro)
c.80489T>C (p.Leu26830Pro)
c.106532T>C (p.Leu35511Pro)
c.101930T>C (p.Leu33977Pro)
c.101927T>C (p.Leu33976Pro)
c.98969T>C (p.Leu32990Pro)
c.80585T>C (p.Leu26862Pro)
c.102080T>C (p.Leu34027Pro)
c.102077T>C (p.Leu34026Pro)
c.101510T>C (p.Leu33837Pro)
c.98852T>C (p.Leu32951Pro)
c.98771T>C (p.Leu32924Pro)
c.80534T>C (p.Leu26845Pro)
c.70388T>C (p.Leu23463Pro)
 gnomAD v4
2g.178527487A>TCA349399848TTN,TTN-AS1c.99935T>A (p.Leu33312Gln)
c.81020T>A (p.Leu27007Gln)
c.80819T>A (p.Leu26940Gln)
c.80444T>A (p.Leu26815Gln)
c.107639T>A (p.Leu35880Gln)
c.102716T>A (p.Leu34239Gln)
n.446+3851A>T
n.219+3851A>T
c.106736T>A (p.Leu35579Gln)
c.80630T>A (p.Leu26877Gln)
c.80489T>A (p.Leu26830Gln)
c.106532T>A (p.Leu35511Gln)
c.101930T>A (p.Leu33977Gln)
c.101927T>A (p.Leu33976Gln)
c.98969T>A (p.Leu32990Gln)
c.80585T>A (p.Leu26862Gln)
c.102080T>A (p.Leu34027Gln)
c.102077T>A (p.Leu34026Gln)
c.101510T>A (p.Leu33837Gln)
c.98852T>A (p.Leu32951Gln)
c.98771T>A (p.Leu32924Gln)
c.80534T>A (p.Leu26845Gln)
c.70388T>A (p.Leu23463Gln)
2g.178527488G>ACA430234181TTN,TTN-AS1c.99934C>T (p.Leu33312=)
c.81019C>T (p.Leu27007=)
c.80818C>T (p.Leu26940=)
c.80443C>T (p.Leu26815=)
c.107638C>T (p.Leu35880=)
c.102715C>T (p.Leu34239=)
n.446+3852G>A
n.219+3852G>A
c.106735C>T (p.Leu35579=)
c.80629C>T (p.Leu26877=)
c.80488C>T (p.Leu26830=)
c.106531C>T (p.Leu35511=)
c.101929C>T (p.Leu33977=)
c.101926C>T (p.Leu33976=)
c.98968C>T (p.Leu32990=)
c.80584C>T (p.Leu26862=)
c.102079C>T (p.Leu34027=)
c.102076C>T (p.Leu34026=)
c.101509C>T (p.Leu33837=)
c.98851C>T (p.Leu32951=)
c.98770C>T (p.Leu32924=)
c.80533C>T (p.Leu26845=)
c.70387C>T (p.Leu23463=)
2g.178527488G>CCA349399852TTN,TTN-AS1c.99934C>G (p.Leu33312Val)
c.81019C>G (p.Leu27007Val)
c.80818C>G (p.Leu26940Val)
c.80443C>G (p.Leu26815Val)
c.107638C>G (p.Leu35880Val)
c.102715C>G (p.Leu34239Val)
n.446+3852G>C
n.219+3852G>C
c.106735C>G (p.Leu35579Val)
c.80629C>G (p.Leu26877Val)
c.80488C>G (p.Leu26830Val)
c.106531C>G (p.Leu35511Val)
c.101929C>G (p.Leu33977Val)
c.101926C>G (p.Leu33976Val)
c.98968C>G (p.Leu32990Val)
c.80584C>G (p.Leu26862Val)
c.102079C>G (p.Leu34027Val)
c.102076C>G (p.Leu34026Val)
c.101509C>G (p.Leu33837Val)
c.98851C>G (p.Leu32951Val)
c.98770C>G (p.Leu32924Val)
c.80533C>G (p.Leu26845Val)
c.70387C>G (p.Leu23463Val)
2g.178527488G>TCA349399854TTN,TTN-AS1c.99934C>A (p.Leu33312Met)
c.81019C>A (p.Leu27007Met)
c.80818C>A (p.Leu26940Met)
c.80443C>A (p.Leu26815Met)
c.107638C>A (p.Leu35880Met)
c.102715C>A (p.Leu34239Met)
n.446+3852G>T
n.219+3852G>T
c.106735C>A (p.Leu35579Met)
c.80629C>A (p.Leu26877Met)
c.80488C>A (p.Leu26830Met)
c.106531C>A (p.Leu35511Met)
c.101929C>A (p.Leu33977Met)
c.101926C>A (p.Leu33976Met)
c.98968C>A (p.Leu32990Met)
c.80584C>A (p.Leu26862Met)
c.102079C>A (p.Leu34027Met)
c.102076C>A (p.Leu34026Met)
c.101509C>A (p.Leu33837Met)
c.98851C>A (p.Leu32951Met)
c.98770C>A (p.Leu32924Met)
c.80533C>A (p.Leu26845Met)
c.70387C>A (p.Leu23463Met)
2g.178527489T>ACA349399855TTN,TTN-AS1c.99933A>T (p.Gln33311His)
c.81018A>T (p.Gln27006His)
c.80817A>T (p.Gln26939His)
c.80442A>T (p.Gln26814His)
c.107637A>T (p.Gln35879His)
c.102714A>T (p.Gln34238His)
n.446+3853T>A
n.219+3853T>A
c.106734A>T (p.Gln35578His)
c.80628A>T (p.Gln26876His)
c.80487A>T (p.Gln26829His)
c.106530A>T (p.Gln35510His)
c.101928A>T (p.Gln33976His)
c.101925A>T (p.Gln33975His)
c.98967A>T (p.Gln32989His)
c.80583A>T (p.Gln26861His)
c.102078A>T (p.Gln34026His)
c.102075A>T (p.Gln34025His)
c.101508A>T (p.Gln33836His)
c.98850A>T (p.Gln32950His)
c.98769A>T (p.Gln32923His)
c.80532A>T (p.Gln26844His)
c.70386A>T (p.Gln23462His)
2g.178527489T>CCA430234183TTN,TTN-AS1c.99933A>G (p.Gln33311=)
c.81018A>G (p.Gln27006=)
c.80817A>G (p.Gln26939=)
c.80442A>G (p.Gln26814=)
c.107637A>G (p.Gln35879=)
c.102714A>G (p.Gln34238=)
n.446+3853T>C
n.219+3853T>C
c.106734A>G (p.Gln35578=)
c.80628A>G (p.Gln26876=)
c.80487A>G (p.Gln26829=)
c.106530A>G (p.Gln35510=)
c.101928A>G (p.Gln33976=)
c.101925A>G (p.Gln33975=)
c.98967A>G (p.Gln32989=)
c.80583A>G (p.Gln26861=)
c.102078A>G (p.Gln34026=)
c.102075A>G (p.Gln34025=)
c.101508A>G (p.Gln33836=)
c.98850A>G (p.Gln32950=)
c.98769A>G (p.Gln32923=)
c.80532A>G (p.Gln26844=)
c.70386A>G (p.Gln23462=)
2g.178527489T>GCA349399857TTN,TTN-AS1c.99933A>C (p.Gln33311His)
c.81018A>C (p.Gln27006His)
c.80817A>C (p.Gln26939His)
c.80442A>C (p.Gln26814His)
c.107637A>C (p.Gln35879His)
c.102714A>C (p.Gln34238His)
n.446+3853T>G
n.219+3853T>G
c.106734A>C (p.Gln35578His)
c.80628A>C (p.Gln26876His)
c.80487A>C (p.Gln26829His)
c.106530A>C (p.Gln35510His)
c.101928A>C (p.Gln33976His)
c.101925A>C (p.Gln33975His)
c.98967A>C (p.Gln32989His)
c.80583A>C (p.Gln26861His)
c.102078A>C (p.Gln34026His)
c.102075A>C (p.Gln34025His)
c.101508A>C (p.Gln33836His)
c.98850A>C (p.Gln32950His)
c.98769A>C (p.Gln32923His)
c.80532A>C (p.Gln26844His)
c.70386A>C (p.Gln23462His)
2g.178527490T>ACA349399859TTN,TTN-AS1c.99932A>T (p.Gln33311Leu)
c.81017A>T (p.Gln27006Leu)
c.80816A>T (p.Gln26939Leu)
c.80441A>T (p.Gln26814Leu)
c.107636A>T (p.Gln35879Leu)
c.102713A>T (p.Gln34238Leu)
n.446+3854T>A
n.219+3854T>A
c.106733A>T (p.Gln35578Leu)
c.80627A>T (p.Gln26876Leu)
c.80486A>T (p.Gln26829Leu)
c.106529A>T (p.Gln35510Leu)
c.101927A>T (p.Gln33976Leu)
c.101924A>T (p.Gln33975Leu)
c.98966A>T (p.Gln32989Leu)
c.80582A>T (p.Gln26861Leu)
c.102077A>T (p.Gln34026Leu)
c.102074A>T (p.Gln34025Leu)
c.101507A>T (p.Gln33836Leu)
c.98849A>T (p.Gln32950Leu)
c.98768A>T (p.Gln32923Leu)
c.80531A>T (p.Gln26844Leu)
c.70385A>T (p.Gln23462Leu)
2g.178527490T>CCA349399860TTN,TTN-AS1c.99932A>G (p.Gln33311Arg)
c.81017A>G (p.Gln27006Arg)
c.80816A>G (p.Gln26939Arg)
c.80441A>G (p.Gln26814Arg)
c.107636A>G (p.Gln35879Arg)
c.102713A>G (p.Gln34238Arg)
n.446+3854T>C
n.219+3854T>C
c.106733A>G (p.Gln35578Arg)
c.80627A>G (p.Gln26876Arg)
c.80486A>G (p.Gln26829Arg)
c.106529A>G (p.Gln35510Arg)
c.101927A>G (p.Gln33976Arg)
c.101924A>G (p.Gln33975Arg)
c.98966A>G (p.Gln32989Arg)
c.80582A>G (p.Gln26861Arg)
c.102077A>G (p.Gln34026Arg)
c.102074A>G (p.Gln34025Arg)
c.101507A>G (p.Gln33836Arg)
c.98849A>G (p.Gln32950Arg)
c.98768A>G (p.Gln32923Arg)
c.80531A>G (p.Gln26844Arg)
c.70385A>G (p.Gln23462Arg)
2g.178527490T>GCA349399862TTN,TTN-AS1c.99932A>C (p.Gln33311Pro)
c.81017A>C (p.Gln27006Pro)
c.80816A>C (p.Gln26939Pro)
c.80441A>C (p.Gln26814Pro)
c.107636A>C (p.Gln35879Pro)
c.102713A>C (p.Gln34238Pro)
n.446+3854T>G
n.219+3854T>G
c.106733A>C (p.Gln35578Pro)
c.80627A>C (p.Gln26876Pro)
c.80486A>C (p.Gln26829Pro)
c.106529A>C (p.Gln35510Pro)
c.101927A>C (p.Gln33976Pro)
c.101924A>C (p.Gln33975Pro)
c.98966A>C (p.Gln32989Pro)
c.80582A>C (p.Gln26861Pro)
c.102077A>C (p.Gln34026Pro)
c.102074A>C (p.Gln34025Pro)
c.101507A>C (p.Gln33836Pro)
c.98849A>C (p.Gln32950Pro)
c.98768A>C (p.Gln32923Pro)
c.80531A>C (p.Gln26844Pro)
c.70385A>C (p.Gln23462Pro)
2g.178527491G>ACA309520TTN,TTN-AS1c.99931C>T (p.Gln33311Ter)
c.81016C>T (p.Gln27006Ter)
c.80815C>T (p.Gln26939Ter)
c.80440C>T (p.Gln26814Ter)
c.107635C>T (p.Gln35879Ter)
c.102712C>T (p.Gln34238Ter)
n.446+3855G>A
n.219+3855G>A
c.106732C>T (p.Gln35578Ter)
c.80626C>T (p.Gln26876Ter)
c.80485C>T (p.Gln26829Ter)
c.106528C>T (p.Gln35510Ter)
c.101926C>T (p.Gln33976Ter)
c.101923C>T (p.Gln33975Ter)
c.98965C>T (p.Gln32989Ter)
c.80581C>T (p.Gln26861Ter)
c.102076C>T (p.Gln34026Ter)
c.102073C>T (p.Gln34025Ter)
c.101506C>T (p.Gln33836Ter)
c.98848C>T (p.Gln32950Ter)
c.98767C>T (p.Gln32923Ter)
c.80530C>T (p.Gln26844Ter)
c.70384C>T (p.Gln23462Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527491G>CCA349399864TTN,TTN-AS1c.99931C>G (p.Gln33311Glu)
c.81016C>G (p.Gln27006Glu)
c.80815C>G (p.Gln26939Glu)
c.80440C>G (p.Gln26814Glu)
c.107635C>G (p.Gln35879Glu)
c.102712C>G (p.Gln34238Glu)
n.446+3855G>C
n.219+3855G>C
c.106732C>G (p.Gln35578Glu)
c.80626C>G (p.Gln26876Glu)
c.80485C>G (p.Gln26829Glu)
c.106528C>G (p.Gln35510Glu)
c.101926C>G (p.Gln33976Glu)
c.101923C>G (p.Gln33975Glu)
c.98965C>G (p.Gln32989Glu)
c.80581C>G (p.Gln26861Glu)
c.102076C>G (p.Gln34026Glu)
c.102073C>G (p.Gln34025Glu)
c.101506C>G (p.Gln33836Glu)
c.98848C>G (p.Gln32950Glu)
c.98767C>G (p.Gln32923Glu)
c.80530C>G (p.Gln26844Glu)
c.70384C>G (p.Gln23462Glu)
2g.178527491G=CA1310514491TTN,TTN-AS1c.99931C= (p.Gln33311=)
c.81016C= (p.Gln27006=)
c.80815C= (p.Gln26939=)
c.80440C= (p.Gln26814=)
c.107635C= (p.Gln35879=)
c.102712C= (p.Gln34238=)
n.446+3855G=
n.219+3855G=
c.106732C= (p.Gln35578=)
c.80626C= (p.Gln26876=)
c.80485C= (p.Gln26829=)
c.106528C= (p.Gln35510=)
c.101926C= (p.Gln33976=)
c.101923C= (p.Gln33975=)
c.98965C= (p.Gln32989=)
c.80581C= (p.Gln26861=)
c.102076C= (p.Gln34026=)
c.102073C= (p.Gln34025=)
c.101506C= (p.Gln33836=)
c.98848C= (p.Gln32950=)
c.98767C= (p.Gln32923=)
c.80530C= (p.Gln26844=)
c.70384C= (p.Gln23462=)
2g.178527491G>TCA349399866TTN,TTN-AS1c.99931C>A (p.Gln33311Lys)
c.81016C>A (p.Gln27006Lys)
c.80815C>A (p.Gln26939Lys)
c.80440C>A (p.Gln26814Lys)
c.107635C>A (p.Gln35879Lys)
c.102712C>A (p.Gln34238Lys)
n.446+3855G>T
n.219+3855G>T
c.106732C>A (p.Gln35578Lys)
c.80626C>A (p.Gln26876Lys)
c.80485C>A (p.Gln26829Lys)
c.106528C>A (p.Gln35510Lys)
c.101926C>A (p.Gln33976Lys)
c.101923C>A (p.Gln33975Lys)
c.98965C>A (p.Gln32989Lys)
c.80581C>A (p.Gln26861Lys)
c.102076C>A (p.Gln34026Lys)
c.102073C>A (p.Gln34025Lys)
c.101506C>A (p.Gln33836Lys)
c.98848C>A (p.Gln32950Lys)
c.98767C>A (p.Gln32923Lys)
c.80530C>A (p.Gln26844Lys)
c.70384C>A (p.Gln23462Lys)
2g.178527492T>ACA430234188TTN,TTN-AS1c.99930A>T (p.Thr33310=)
c.81015A>T (p.Thr27005=)
c.80814A>T (p.Thr26938=)
c.80439A>T (p.Thr26813=)
c.107634A>T (p.Thr35878=)
c.102711A>T (p.Thr34237=)
n.446+3856T>A
n.219+3856T>A
c.106731A>T (p.Thr35577=)
c.80625A>T (p.Thr26875=)
c.80484A>T (p.Thr26828=)
c.106527A>T (p.Thr35509=)
c.101925A>T (p.Thr33975=)
c.101922A>T (p.Thr33974=)
c.98964A>T (p.Thr32988=)
c.80580A>T (p.Thr26860=)
c.102075A>T (p.Thr34025=)
c.102072A>T (p.Thr34024=)
c.101505A>T (p.Thr33835=)
c.98847A>T (p.Thr32949=)
c.98766A>T (p.Thr32922=)
c.80529A>T (p.Thr26843=)
c.70383A>T (p.Thr23461=)
2g.178527492T>CCA10581823TTN,TTN-AS1c.99930A>G (p.Thr33310=)
c.81015A>G (p.Thr27005=)
c.80814A>G (p.Thr26938=)
c.80439A>G (p.Thr26813=)
c.107634A>G (p.Thr35878=)
c.102711A>G (p.Thr34237=)
n.446+3856T>C
n.219+3856T>C
c.106731A>G (p.Thr35577=)
c.80625A>G (p.Thr26875=)
c.80484A>G (p.Thr26828=)
c.106527A>G (p.Thr35509=)
c.101925A>G (p.Thr33975=)
c.101922A>G (p.Thr33974=)
c.98964A>G (p.Thr32988=)
c.80580A>G (p.Thr26860=)
c.102075A>G (p.Thr34025=)
c.102072A>G (p.Thr34024=)
c.101505A>G (p.Thr33835=)
c.98847A>G (p.Thr32949=)
c.98766A>G (p.Thr32922=)
c.80529A>G (p.Thr26843=)
c.70383A>G (p.Thr23461=)
 ClinVar dbSNP
2g.178527492T>GCA430234192TTN,TTN-AS1c.99930A>C (p.Thr33310=)
c.81015A>C (p.Thr27005=)
c.80814A>C (p.Thr26938=)
c.80439A>C (p.Thr26813=)
c.107634A>C (p.Thr35878=)
c.102711A>C (p.Thr34237=)
n.446+3856T>G
n.219+3856T>G
c.106731A>C (p.Thr35577=)
c.80625A>C (p.Thr26875=)
c.80484A>C (p.Thr26828=)
c.106527A>C (p.Thr35509=)
c.101925A>C (p.Thr33975=)
c.101922A>C (p.Thr33974=)
c.98964A>C (p.Thr32988=)
c.80580A>C (p.Thr26860=)
c.102075A>C (p.Thr34025=)
c.102072A>C (p.Thr34024=)
c.101505A>C (p.Thr33835=)
c.98847A>C (p.Thr32949=)
c.98766A>C (p.Thr32922=)
c.80529A>C (p.Thr26843=)
c.70383A>C (p.Thr23461=)
2g.178527492T=CA1310514492TTN,TTN-AS1c.99930A= (p.Thr33310=)
c.81015A= (p.Thr27005=)
c.80814A= (p.Thr26938=)
c.80439A= (p.Thr26813=)
c.107634A= (p.Thr35878=)
c.102711A= (p.Thr34237=)
n.446+3856T=
n.219+3856T=
c.106731A= (p.Thr35577=)
c.80625A= (p.Thr26875=)
c.80484A= (p.Thr26828=)
c.106527A= (p.Thr35509=)
c.101925A= (p.Thr33975=)
c.101922A= (p.Thr33974=)
c.98964A= (p.Thr32988=)
c.80580A= (p.Thr26860=)
c.102075A= (p.Thr34025=)
c.102072A= (p.Thr34024=)
c.101505A= (p.Thr33835=)
c.98847A= (p.Thr32949=)
c.98766A= (p.Thr32922=)
c.80529A= (p.Thr26843=)
c.70383A= (p.Thr23461=)
2g.178527493G>ACA349399870TTN,TTN-AS1c.99929C>T (p.Thr33310Ile)
c.81014C>T (p.Thr27005Ile)
c.80813C>T (p.Thr26938Ile)
c.80438C>T (p.Thr26813Ile)
c.107633C>T (p.Thr35878Ile)
c.102710C>T (p.Thr34237Ile)
n.446+3857G>A
n.219+3857G>A
c.106730C>T (p.Thr35577Ile)
c.80624C>T (p.Thr26875Ile)
c.80483C>T (p.Thr26828Ile)
c.106526C>T (p.Thr35509Ile)
c.101924C>T (p.Thr33975Ile)
c.101921C>T (p.Thr33974Ile)
c.98963C>T (p.Thr32988Ile)
c.80579C>T (p.Thr26860Ile)
c.102074C>T (p.Thr34025Ile)
c.102071C>T (p.Thr34024Ile)
c.101504C>T (p.Thr33835Ile)
c.98846C>T (p.Thr32949Ile)
c.98765C>T (p.Thr32922Ile)
c.80528C>T (p.Thr26843Ile)
c.70382C>T (p.Thr23461Ile)
 ClinVar dbSNP
2g.178527493G>CCA349399872TTN,TTN-AS1c.99929C>G (p.Thr33310Arg)
c.81014C>G (p.Thr27005Arg)
c.80813C>G (p.Thr26938Arg)
c.80438C>G (p.Thr26813Arg)
c.107633C>G (p.Thr35878Arg)
c.102710C>G (p.Thr34237Arg)
n.446+3857G>C
n.219+3857G>C
c.106730C>G (p.Thr35577Arg)
c.80624C>G (p.Thr26875Arg)
c.80483C>G (p.Thr26828Arg)
c.106526C>G (p.Thr35509Arg)
c.101924C>G (p.Thr33975Arg)
c.101921C>G (p.Thr33974Arg)
c.98963C>G (p.Thr32988Arg)
c.80579C>G (p.Thr26860Arg)
c.102074C>G (p.Thr34025Arg)
c.102071C>G (p.Thr34024Arg)
c.101504C>G (p.Thr33835Arg)
c.98846C>G (p.Thr32949Arg)
c.98765C>G (p.Thr32922Arg)
c.80528C>G (p.Thr26843Arg)
c.70382C>G (p.Thr23461Arg)
2g.178527493G=CA1310514493TTN,TTN-AS1c.99929C= (p.Thr33310=)
c.81014C= (p.Thr27005=)
c.80813C= (p.Thr26938=)
c.80438C= (p.Thr26813=)
c.107633C= (p.Thr35878=)
c.102710C= (p.Thr34237=)
n.446+3857G=
n.219+3857G=
c.106730C= (p.Thr35577=)
c.80624C= (p.Thr26875=)
c.80483C= (p.Thr26828=)
c.106526C= (p.Thr35509=)
c.101924C= (p.Thr33975=)
c.101921C= (p.Thr33974=)
c.98963C= (p.Thr32988=)
c.80579C= (p.Thr26860=)
c.102074C= (p.Thr34025=)
c.102071C= (p.Thr34024=)
c.101504C= (p.Thr33835=)
c.98846C= (p.Thr32949=)
c.98765C= (p.Thr32922=)
c.80528C= (p.Thr26843=)
c.70382C= (p.Thr23461=)
2g.178527493G>TCA349399869TTN,TTN-AS1c.99929C>A (p.Thr33310Lys)
c.81014C>A (p.Thr27005Lys)
c.80813C>A (p.Thr26938Lys)
c.80438C>A (p.Thr26813Lys)
c.107633C>A (p.Thr35878Lys)
c.102710C>A (p.Thr34237Lys)
n.446+3857G>T
n.219+3857G>T
c.106730C>A (p.Thr35577Lys)
c.80624C>A (p.Thr26875Lys)
c.80483C>A (p.Thr26828Lys)
c.106526C>A (p.Thr35509Lys)
c.101924C>A (p.Thr33975Lys)
c.101921C>A (p.Thr33974Lys)
c.98963C>A (p.Thr32988Lys)
c.80579C>A (p.Thr26860Lys)
c.102074C>A (p.Thr34025Lys)
c.102071C>A (p.Thr34024Lys)
c.101504C>A (p.Thr33835Lys)
c.98846C>A (p.Thr32949Lys)
c.98765C>A (p.Thr32922Lys)
c.80528C>A (p.Thr26843Lys)
c.70382C>A (p.Thr23461Lys)
2g.178527494T>ACA349399873TTN,TTN-AS1c.99928A>T (p.Thr33310Ser)
c.81013A>T (p.Thr27005Ser)
c.80812A>T (p.Thr26938Ser)
c.80437A>T (p.Thr26813Ser)
c.107632A>T (p.Thr35878Ser)
c.102709A>T (p.Thr34237Ser)
n.446+3858T>A
n.219+3858T>A
c.106729A>T (p.Thr35577Ser)
c.80623A>T (p.Thr26875Ser)
c.80482A>T (p.Thr26828Ser)
c.106525A>T (p.Thr35509Ser)
c.101923A>T (p.Thr33975Ser)
c.101920A>T (p.Thr33974Ser)
c.98962A>T (p.Thr32988Ser)
c.80578A>T (p.Thr26860Ser)
c.102073A>T (p.Thr34025Ser)
c.102070A>T (p.Thr34024Ser)
c.101503A>T (p.Thr33835Ser)
c.98845A>T (p.Thr32949Ser)
c.98764A>T (p.Thr32922Ser)
c.80527A>T (p.Thr26843Ser)
c.70381A>T (p.Thr23461Ser)
2g.178527494T>CCA349399875TTN,TTN-AS1c.99928A>G (p.Thr33310Ala)
c.81013A>G (p.Thr27005Ala)
c.80812A>G (p.Thr26938Ala)
c.80437A>G (p.Thr26813Ala)
c.107632A>G (p.Thr35878Ala)
c.102709A>G (p.Thr34237Ala)
n.446+3858T>C
n.219+3858T>C
c.106729A>G (p.Thr35577Ala)
c.80623A>G (p.Thr26875Ala)
c.80482A>G (p.Thr26828Ala)
c.106525A>G (p.Thr35509Ala)
c.101923A>G (p.Thr33975Ala)
c.101920A>G (p.Thr33974Ala)
c.98962A>G (p.Thr32988Ala)
c.80578A>G (p.Thr26860Ala)
c.102073A>G (p.Thr34025Ala)
c.102070A>G (p.Thr34024Ala)
c.101503A>G (p.Thr33835Ala)
c.98845A>G (p.Thr32949Ala)
c.98764A>G (p.Thr32922Ala)
c.80527A>G (p.Thr26843Ala)
c.70381A>G (p.Thr23461Ala)
 ClinVar
2g.178527494T>GCA349399877TTN,TTN-AS1c.99928A>C (p.Thr33310Pro)
c.81013A>C (p.Thr27005Pro)
c.80812A>C (p.Thr26938Pro)
c.80437A>C (p.Thr26813Pro)
c.107632A>C (p.Thr35878Pro)
c.102709A>C (p.Thr34237Pro)
n.446+3858T>G
n.219+3858T>G
c.106729A>C (p.Thr35577Pro)
c.80623A>C (p.Thr26875Pro)
c.80482A>C (p.Thr26828Pro)
c.106525A>C (p.Thr35509Pro)
c.101923A>C (p.Thr33975Pro)
c.101920A>C (p.Thr33974Pro)
c.98962A>C (p.Thr32988Pro)
c.80578A>C (p.Thr26860Pro)
c.102073A>C (p.Thr34025Pro)
c.102070A>C (p.Thr34024Pro)
c.101503A>C (p.Thr33835Pro)
c.98845A>C (p.Thr32949Pro)
c.98764A>C (p.Thr32922Pro)
c.80527A>C (p.Thr26843Pro)
c.70381A>C (p.Thr23461Pro)
2g.178527495C>ACA349399879TTN,TTN-AS1c.99927G>T (p.Met33309Ile)
c.81012G>T (p.Met27004Ile)
c.80811G>T (p.Met26937Ile)
c.80436G>T (p.Met26812Ile)
c.107631G>T (p.Met35877Ile)
c.102708G>T (p.Met34236Ile)
n.446+3859C>A
n.219+3859C>A
c.106728G>T (p.Met35576Ile)
c.80622G>T (p.Met26874Ile)
c.80481G>T (p.Met26827Ile)
c.106524G>T (p.Met35508Ile)
c.101922G>T (p.Met33974Ile)
c.101919G>T (p.Met33973Ile)
c.98961G>T (p.Met32987Ile)
c.80577G>T (p.Met26859Ile)
c.102072G>T (p.Met34024Ile)
c.102069G>T (p.Met34023Ile)
c.101502G>T (p.Met33834Ile)
c.98844G>T (p.Met32948Ile)
c.98763G>T (p.Met32921Ile)
c.80526G>T (p.Met26842Ile)
c.70380G>T (p.Met23460Ile)
2g.178527495C=CA1310514495TTN,TTN-AS1c.99927G= (p.Met33309=)
c.81012G= (p.Met27004=)
c.80811G= (p.Met26937=)
c.80436G= (p.Met26812=)
c.107631G= (p.Met35877=)
c.102708G= (p.Met34236=)
n.446+3859C=
n.219+3859C=
c.106728G= (p.Met35576=)
c.80622G= (p.Met26874=)
c.80481G= (p.Met26827=)
c.106524G= (p.Met35508=)
c.101922G= (p.Met33974=)
c.101919G= (p.Met33973=)
c.98961G= (p.Met32987=)
c.80577G= (p.Met26859=)
c.102072G= (p.Met34024=)
c.102069G= (p.Met34023=)
c.101502G= (p.Met33834=)
c.98844G= (p.Met32948=)
c.98763G= (p.Met32921=)
c.80526G= (p.Met26842=)
c.70380G= (p.Met23460=)
2g.178527495C>GCA349399880TTN,TTN-AS1c.99927G>C (p.Met33309Ile)
c.81012G>C (p.Met27004Ile)
c.80811G>C (p.Met26937Ile)
c.80436G>C (p.Met26812Ile)
c.107631G>C (p.Met35877Ile)
c.102708G>C (p.Met34236Ile)
n.446+3859C>G
n.219+3859C>G
c.106728G>C (p.Met35576Ile)
c.80622G>C (p.Met26874Ile)
c.80481G>C (p.Met26827Ile)
c.106524G>C (p.Met35508Ile)
c.101922G>C (p.Met33974Ile)
c.101919G>C (p.Met33973Ile)
c.98961G>C (p.Met32987Ile)
c.80577G>C (p.Met26859Ile)
c.102072G>C (p.Met34024Ile)
c.102069G>C (p.Met34023Ile)
c.101502G>C (p.Met33834Ile)
c.98844G>C (p.Met32948Ile)
c.98763G>C (p.Met32921Ile)
c.80526G>C (p.Met26842Ile)
c.70380G>C (p.Met23460Ile)
2g.178527495C>TCA349399881TTN,TTN-AS1c.99927G>A (p.Met33309Ile)
c.81012G>A (p.Met27004Ile)
c.80811G>A (p.Met26937Ile)
c.80436G>A (p.Met26812Ile)
c.107631G>A (p.Met35877Ile)
c.102708G>A (p.Met34236Ile)
n.446+3859C>T
n.219+3859C>T
c.106728G>A (p.Met35576Ile)
c.80622G>A (p.Met26874Ile)
c.80481G>A (p.Met26827Ile)
c.106524G>A (p.Met35508Ile)
c.101922G>A (p.Met33974Ile)
c.101919G>A (p.Met33973Ile)
c.98961G>A (p.Met32987Ile)
c.80577G>A (p.Met26859Ile)
c.102072G>A (p.Met34024Ile)
c.102069G>A (p.Met34023Ile)
c.101502G>A (p.Met33834Ile)
c.98844G>A (p.Met32948Ile)
c.98763G>A (p.Met32921Ile)
c.80526G>A (p.Met26842Ile)
c.70380G>A (p.Met23460Ile)
 ClinVar dbSNP gnomAD v4
2g.178527495_178527497delinsCATCA1310514494TTN,TTN-AS1c.99925_99927delinsATG (p.Met33309=)
c.81010_81012delinsATG (p.Met27004=)
c.80809_80811delinsATG (p.Met26937=)
c.80434_80436delinsATG (p.Met26812=)
c.107629_107631delinsATG (p.Met35877=)
c.102706_102708delinsATG (p.Met34236=)
n.446+3859_446+3861delinsCAT
n.219+3859_219+3861delinsCAT
c.106726_106728delinsATG (p.Met35576=)
c.80620_80622delinsATG (p.Met26874=)
c.80479_80481delinsATG (p.Met26827=)
c.106522_106524delinsATG (p.Met35508=)
c.101920_101922delinsATG (p.Met33974=)
c.101917_101919delinsATG (p.Met33973=)
c.98959_98961delinsATG (p.Met32987=)
c.80575_80577delinsATG (p.Met26859=)
c.102070_102072delinsATG (p.Met34024=)
c.102067_102069delinsATG (p.Met34023=)
c.101500_101502delinsATG (p.Met33834=)
c.98842_98844delinsATG (p.Met32948=)
c.98761_98763delinsATG (p.Met32921=)
c.80524_80526delinsATG (p.Met26842=)
c.70378_70380delinsATG (p.Met23460=)
2g.178527496A=CA1310514496TTN,TTN-AS1c.99926T= (p.Met33309=)
c.81011T= (p.Met27004=)
c.80810T= (p.Met26937=)
c.80435T= (p.Met26812=)
c.107630T= (p.Met35877=)
c.102707T= (p.Met34236=)
n.446+3860A=
n.219+3860A=
c.106727T= (p.Met35576=)
c.80621T= (p.Met26874=)
c.80480T= (p.Met26827=)
c.106523T= (p.Met35508=)
c.101921T= (p.Met33974=)
c.101918T= (p.Met33973=)
c.98960T= (p.Met32987=)
c.80576T= (p.Met26859=)
c.102071T= (p.Met34024=)
c.102068T= (p.Met34023=)
c.101501T= (p.Met33834=)
c.98843T= (p.Met32948=)
c.98762T= (p.Met32921=)
c.80525T= (p.Met26842=)
c.70379T= (p.Met23460=)
2g.178527496A>CCA349399883TTN,TTN-AS1c.99926T>G (p.Met33309Arg)
c.81011T>G (p.Met27004Arg)
c.80810T>G (p.Met26937Arg)
c.80435T>G (p.Met26812Arg)
c.107630T>G (p.Met35877Arg)
c.102707T>G (p.Met34236Arg)
n.446+3860A>C
n.219+3860A>C
c.106727T>G (p.Met35576Arg)
c.80621T>G (p.Met26874Arg)
c.80480T>G (p.Met26827Arg)
c.106523T>G (p.Met35508Arg)
c.101921T>G (p.Met33974Arg)
c.101918T>G (p.Met33973Arg)
c.98960T>G (p.Met32987Arg)
c.80576T>G (p.Met26859Arg)
c.102071T>G (p.Met34024Arg)
c.102068T>G (p.Met34023Arg)
c.101501T>G (p.Met33834Arg)
c.98843T>G (p.Met32948Arg)
c.98762T>G (p.Met32921Arg)
c.80525T>G (p.Met26842Arg)
c.70379T>G (p.Met23460Arg)
2g.178527496A>GCA1984917TTN,TTN-AS1c.99926T>C (p.Met33309Thr)
c.81011T>C (p.Met27004Thr)
c.80810T>C (p.Met26937Thr)
c.80435T>C (p.Met26812Thr)
c.107630T>C (p.Met35877Thr)
c.102707T>C (p.Met34236Thr)
n.446+3860A>G
n.219+3860A>G
c.106727T>C (p.Met35576Thr)
c.80621T>C (p.Met26874Thr)
c.80480T>C (p.Met26827Thr)
c.106523T>C (p.Met35508Thr)
c.101921T>C (p.Met33974Thr)
c.101918T>C (p.Met33973Thr)
c.98960T>C (p.Met32987Thr)
c.80576T>C (p.Met26859Thr)
c.102071T>C (p.Met34024Thr)
c.102068T>C (p.Met34023Thr)
c.101501T>C (p.Met33834Thr)
c.98843T>C (p.Met32948Thr)
c.98762T>C (p.Met32921Thr)
c.80525T>C (p.Met26842Thr)
c.70379T>C (p.Met23460Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527496A>TCA349399885TTN,TTN-AS1c.99926T>A (p.Met33309Lys)
c.81011T>A (p.Met27004Lys)
c.80810T>A (p.Met26937Lys)
c.80435T>A (p.Met26812Lys)
c.107630T>A (p.Met35877Lys)
c.102707T>A (p.Met34236Lys)
n.446+3860A>T
n.219+3860A>T
c.106727T>A (p.Met35576Lys)
c.80621T>A (p.Met26874Lys)
c.80480T>A (p.Met26827Lys)
c.106523T>A (p.Met35508Lys)
c.101921T>A (p.Met33974Lys)
c.101918T>A (p.Met33973Lys)
c.98960T>A (p.Met32987Lys)
c.80576T>A (p.Met26859Lys)
c.102071T>A (p.Met34024Lys)
c.102068T>A (p.Met34023Lys)
c.101501T>A (p.Met33834Lys)
c.98843T>A (p.Met32948Lys)
c.98762T>A (p.Met32921Lys)
c.80525T>A (p.Met26842Lys)
c.70379T>A (p.Met23460Lys)
2g.178527498_178527499delCA761282174TTN,TTN-AS1c.99925_99926del (p.Met33309AspfsTer8)
c.81010_81011del (p.Met27004AspfsTer8)
c.80809_80810del (p.Met26937AspfsTer8)
c.80434_80435del (p.Met26812AspfsTer8)
c.107629_107630del (p.Met35877AspfsTer8)
c.102706_102707del (p.Met34236AspfsTer8)
n.446+3862_446+3863del
n.219+3862_219+3863del
c.106726_106727del (p.Met35576AspfsTer8)
c.80620_80621del (p.Met26874AspfsTer8)
c.80479_80480del (p.Met26827AspfsTer8)
c.106522_106523del (p.Met35508AspfsTer8)
c.101920_101921del (p.Met33974AspfsTer8)
c.101917_101918del (p.Met33973AspfsTer8)
c.98959_98960del (p.Met32987AspfsTer8)
c.80575_80576del (p.Met26859AspfsTer8)
c.102070_102071del (p.Met34024AspfsTer8)
c.102067_102068del (p.Met34023AspfsTer8)
c.101500_101501del (p.Met33834AspfsTer8)
c.98842_98843del (p.Met32948AspfsTer8)
c.98761_98762del (p.Met32921AspfsTer8)
c.80524_80525del (p.Met26842AspfsTer8)
c.70378_70379del (p.Met23460AspfsTer8)
 dbSNP gnomAD v3 gnomAD v4
2g.178527497T>ACA349399887TTN,TTN-AS1c.99925A>T (p.Met33309Leu)
c.81010A>T (p.Met27004Leu)
c.80809A>T (p.Met26937Leu)
c.80434A>T (p.Met26812Leu)
c.107629A>T (p.Met35877Leu)
c.102706A>T (p.Met34236Leu)
n.446+3861T>A
n.219+3861T>A
c.106726A>T (p.Met35576Leu)
c.80620A>T (p.Met26874Leu)
c.80479A>T (p.Met26827Leu)
c.106522A>T (p.Met35508Leu)
c.101920A>T (p.Met33974Leu)
c.101917A>T (p.Met33973Leu)
c.98959A>T (p.Met32987Leu)
c.80575A>T (p.Met26859Leu)
c.102070A>T (p.Met34024Leu)
c.102067A>T (p.Met34023Leu)
c.101500A>T (p.Met33834Leu)
c.98842A>T (p.Met32948Leu)
c.98761A>T (p.Met32921Leu)
c.80524A>T (p.Met26842Leu)
c.70378A>T (p.Met23460Leu)
2g.178527497T>CCA349399888TTN,TTN-AS1c.99925A>G (p.Met33309Val)
c.81010A>G (p.Met27004Val)
c.80809A>G (p.Met26937Val)
c.80434A>G (p.Met26812Val)
c.107629A>G (p.Met35877Val)
c.102706A>G (p.Met34236Val)
n.446+3861T>C
n.219+3861T>C
c.106726A>G (p.Met35576Val)
c.80620A>G (p.Met26874Val)
c.80479A>G (p.Met26827Val)
c.106522A>G (p.Met35508Val)
c.101920A>G (p.Met33974Val)
c.101917A>G (p.Met33973Val)
c.98959A>G (p.Met32987Val)
c.80575A>G (p.Met26859Val)
c.102070A>G (p.Met34024Val)
c.102067A>G (p.Met34023Val)
c.101500A>G (p.Met33834Val)
c.98842A>G (p.Met32948Val)
c.98761A>G (p.Met32921Val)
c.80524A>G (p.Met26842Val)
c.70378A>G (p.Met23460Val)
2g.178527497T>GCA349399890TTN,TTN-AS1c.99925A>C (p.Met33309Leu)
c.81010A>C (p.Met27004Leu)
c.80809A>C (p.Met26937Leu)
c.80434A>C (p.Met26812Leu)
c.107629A>C (p.Met35877Leu)
c.102706A>C (p.Met34236Leu)
n.446+3861T>G
n.219+3861T>G
c.106726A>C (p.Met35576Leu)
c.80620A>C (p.Met26874Leu)
c.80479A>C (p.Met26827Leu)
c.106522A>C (p.Met35508Leu)
c.101920A>C (p.Met33974Leu)
c.101917A>C (p.Met33973Leu)
c.98959A>C (p.Met32987Leu)
c.80575A>C (p.Met26859Leu)
c.102070A>C (p.Met34024Leu)
c.102067A>C (p.Met34023Leu)
c.101500A>C (p.Met33834Leu)
c.98842A>C (p.Met32948Leu)
c.98761A>C (p.Met32921Leu)
c.80524A>C (p.Met26842Leu)
c.70378A>C (p.Met23460Leu)
2g.178527497_178527498delinsTACA1310514497TTN,TTN-AS1c.99924_99925delinsTA (p.Asn33308=)
c.81009_81010delinsTA (p.Asn27003=)
c.80808_80809delinsTA (p.Asn26936=)
c.80433_80434delinsTA (p.Asn26811=)
c.107628_107629delinsTA (p.Asn35876=)
c.102705_102706delinsTA (p.Asn34235=)
n.446+3861_446+3862delinsTA
n.219+3861_219+3862delinsTA
c.106725_106726delinsTA (p.Asn35575=)
c.80619_80620delinsTA (p.Asn26873=)
c.80478_80479delinsTA (p.Asn26826=)
c.106521_106522delinsTA (p.Asn35507=)
c.101919_101920delinsTA (p.Asn33973=)
c.101916_101917delinsTA (p.Asn33972=)
c.98958_98959delinsTA (p.Asn32986=)
c.80574_80575delinsTA (p.Asn26858=)
c.102069_102070delinsTA (p.Asn34023=)
c.102066_102067delinsTA (p.Asn34022=)
c.101499_101500delinsTA (p.Asn33833=)
c.98841_98842delinsTA (p.Asn32947=)
c.98760_98761delinsTA (p.Asn32920=)
c.80523_80524delinsTA (p.Asn26841=)
c.70377_70378delinsTA (p.Asn23459=)
2g.178527498delCA1984918TTN,TTN-AS1c.99924del (p.Asn33308LysfsTer2)
c.81009del (p.Asn27003LysfsTer2)
c.80808del (p.Asn26936LysfsTer2)
c.80433del (p.Asn26811LysfsTer2)
c.107628del (p.Asn35876LysfsTer2)
c.102705del (p.Asn34235LysfsTer2)
n.446+3862del
n.219+3862del
c.106725del (p.Asn35575LysfsTer2)
c.80619del (p.Asn26873LysfsTer2)
c.80478del (p.Asn26826LysfsTer2)
c.106521del (p.Asn35507LysfsTer2)
c.101919del (p.Asn33973LysfsTer2)
c.101916del (p.Asn33972LysfsTer2)
c.98958del (p.Asn32986LysfsTer2)
c.80574del (p.Asn26858LysfsTer2)
c.102069del (p.Asn34023LysfsTer2)
c.102066del (p.Asn34022LysfsTer2)
c.101499del (p.Asn33833LysfsTer2)
c.98841del (p.Asn32947LysfsTer2)
c.98760del (p.Asn32920LysfsTer2)
c.80523del (p.Asn26841LysfsTer2)
c.70377del (p.Asn23459LysfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527498A>CCA349399894TTN,TTN-AS1c.99924T>G (p.Asn33308Lys)
c.81009T>G (p.Asn27003Lys)
c.80808T>G (p.Asn26936Lys)
c.80433T>G (p.Asn26811Lys)
c.107628T>G (p.Asn35876Lys)
c.102705T>G (p.Asn34235Lys)
n.446+3862A>C
n.219+3862A>C
c.106725T>G (p.Asn35575Lys)
c.80619T>G (p.Asn26873Lys)
c.80478T>G (p.Asn26826Lys)
c.106521T>G (p.Asn35507Lys)
c.101919T>G (p.Asn33973Lys)
c.101916T>G (p.Asn33972Lys)
c.98958T>G (p.Asn32986Lys)
c.80574T>G (p.Asn26858Lys)
c.102069T>G (p.Asn34023Lys)
c.102066T>G (p.Asn34022Lys)
c.101499T>G (p.Asn33833Lys)
c.98841T>G (p.Asn32947Lys)
c.98760T>G (p.Asn32920Lys)
c.80523T>G (p.Asn26841Lys)
c.70377T>G (p.Asn23459Lys)
2g.178527498A>GCA430234207TTN,TTN-AS1c.99924T>C (p.Asn33308=)
c.81009T>C (p.Asn27003=)
c.80808T>C (p.Asn26936=)
c.80433T>C (p.Asn26811=)
c.107628T>C (p.Asn35876=)
c.102705T>C (p.Asn34235=)
n.446+3862A>G
n.219+3862A>G
c.106725T>C (p.Asn35575=)
c.80619T>C (p.Asn26873=)
c.80478T>C (p.Asn26826=)
c.106521T>C (p.Asn35507=)
c.101919T>C (p.Asn33973=)
c.101916T>C (p.Asn33972=)
c.98958T>C (p.Asn32986=)
c.80574T>C (p.Asn26858=)
c.102069T>C (p.Asn34023=)
c.102066T>C (p.Asn34022=)
c.101499T>C (p.Asn33833=)
c.98841T>C (p.Asn32947=)
c.98760T>C (p.Asn32920=)
c.80523T>C (p.Asn26841=)
c.70377T>C (p.Asn23459=)
2g.178527498A>TCA349399893TTN,TTN-AS1c.99924T>A (p.Asn33308Lys)
c.81009T>A (p.Asn27003Lys)
c.80808T>A (p.Asn26936Lys)
c.80433T>A (p.Asn26811Lys)
c.107628T>A (p.Asn35876Lys)
c.102705T>A (p.Asn34235Lys)
n.446+3862A>T
n.219+3862A>T
c.106725T>A (p.Asn35575Lys)
c.80619T>A (p.Asn26873Lys)
c.80478T>A (p.Asn26826Lys)
c.106521T>A (p.Asn35507Lys)
c.101919T>A (p.Asn33973Lys)
c.101916T>A (p.Asn33972Lys)
c.98958T>A (p.Asn32986Lys)
c.80574T>A (p.Asn26858Lys)
c.102069T>A (p.Asn34023Lys)
c.102066T>A (p.Asn34022Lys)
c.101499T>A (p.Asn33833Lys)
c.98841T>A (p.Asn32947Lys)
c.98760T>A (p.Asn32920Lys)
c.80523T>A (p.Asn26841Lys)
c.70377T>A (p.Asn23459Lys)
2g.178527499T>ACA349399896TTN,TTN-AS1c.99923A>T (p.Asn33308Ile)
c.81008A>T (p.Asn27003Ile)
c.80807A>T (p.Asn26936Ile)
c.80432A>T (p.Asn26811Ile)
c.107627A>T (p.Asn35876Ile)
c.102704A>T (p.Asn34235Ile)
n.446+3863T>A
n.219+3863T>A
c.106724A>T (p.Asn35575Ile)
c.80618A>T (p.Asn26873Ile)
c.80477A>T (p.Asn26826Ile)
c.106520A>T (p.Asn35507Ile)
c.101918A>T (p.Asn33973Ile)
c.101915A>T (p.Asn33972Ile)
c.98957A>T (p.Asn32986Ile)
c.80573A>T (p.Asn26858Ile)
c.102068A>T (p.Asn34023Ile)
c.102065A>T (p.Asn34022Ile)
c.101498A>T (p.Asn33833Ile)
c.98840A>T (p.Asn32947Ile)
c.98759A>T (p.Asn32920Ile)
c.80522A>T (p.Asn26841Ile)
c.70376A>T (p.Asn23459Ile)
2g.178527499T>CCA1984919TTN,TTN-AS1c.99923A>G (p.Asn33308Ser)
c.81008A>G (p.Asn27003Ser)
c.80807A>G (p.Asn26936Ser)
c.80432A>G (p.Asn26811Ser)
c.107627A>G (p.Asn35876Ser)
c.102704A>G (p.Asn34235Ser)
n.446+3863T>C
n.219+3863T>C
c.106724A>G (p.Asn35575Ser)
c.80618A>G (p.Asn26873Ser)
c.80477A>G (p.Asn26826Ser)
c.106520A>G (p.Asn35507Ser)
c.101918A>G (p.Asn33973Ser)
c.101915A>G (p.Asn33972Ser)
c.98957A>G (p.Asn32986Ser)
c.80573A>G (p.Asn26858Ser)
c.102068A>G (p.Asn34023Ser)
c.102065A>G (p.Asn34022Ser)
c.101498A>G (p.Asn33833Ser)
c.98840A>G (p.Asn32947Ser)
c.98759A>G (p.Asn32920Ser)
c.80522A>G (p.Asn26841Ser)
c.70376A>G (p.Asn23459Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527499T>GCA349399898TTN,TTN-AS1c.99923A>C (p.Asn33308Thr)
c.81008A>C (p.Asn27003Thr)
c.80807A>C (p.Asn26936Thr)
c.80432A>C (p.Asn26811Thr)
c.107627A>C (p.Asn35876Thr)
c.102704A>C (p.Asn34235Thr)
n.446+3863T>G
n.219+3863T>G
c.106724A>C (p.Asn35575Thr)
c.80618A>C (p.Asn26873Thr)
c.80477A>C (p.Asn26826Thr)
c.106520A>C (p.Asn35507Thr)
c.101918A>C (p.Asn33973Thr)
c.101915A>C (p.Asn33972Thr)
c.98957A>C (p.Asn32986Thr)
c.80573A>C (p.Asn26858Thr)
c.102068A>C (p.Asn34023Thr)
c.102065A>C (p.Asn34022Thr)
c.101498A>C (p.Asn33833Thr)
c.98840A>C (p.Asn32947Thr)
c.98759A>C (p.Asn32920Thr)
c.80522A>C (p.Asn26841Thr)
c.70376A>C (p.Asn23459Thr)
2g.178527499T=CA1310514498TTN,TTN-AS1c.99923A= (p.Asn33308=)
c.81008A= (p.Asn27003=)
c.80807A= (p.Asn26936=)
c.80432A= (p.Asn26811=)
c.107627A= (p.Asn35876=)
c.102704A= (p.Asn34235=)
n.446+3863T=
n.219+3863T=
c.106724A= (p.Asn35575=)
c.80618A= (p.Asn26873=)
c.80477A= (p.Asn26826=)
c.106520A= (p.Asn35507=)
c.101918A= (p.Asn33973=)
c.101915A= (p.Asn33972=)
c.98957A= (p.Asn32986=)
c.80573A= (p.Asn26858=)
c.102068A= (p.Asn34023=)
c.102065A= (p.Asn34022=)
c.101498A= (p.Asn33833=)
c.98840A= (p.Asn32947=)
c.98759A= (p.Asn32920=)
c.80522A= (p.Asn26841=)
c.70376A= (p.Asn23459=)
2g.178527500T>ACA349399900TTN,TTN-AS1c.99922A>T (p.Asn33308Tyr)
c.81007A>T (p.Asn27003Tyr)
c.80806A>T (p.Asn26936Tyr)
c.80431A>T (p.Asn26811Tyr)
c.107626A>T (p.Asn35876Tyr)
c.102703A>T (p.Asn34235Tyr)
n.446+3864T>A
n.219+3864T>A
c.106723A>T (p.Asn35575Tyr)
c.80617A>T (p.Asn26873Tyr)
c.80476A>T (p.Asn26826Tyr)
c.106519A>T (p.Asn35507Tyr)
c.101917A>T (p.Asn33973Tyr)
c.101914A>T (p.Asn33972Tyr)
c.98956A>T (p.Asn32986Tyr)
c.80572A>T (p.Asn26858Tyr)
c.102067A>T (p.Asn34023Tyr)
c.102064A>T (p.Asn34022Tyr)
c.101497A>T (p.Asn33833Tyr)
c.98839A>T (p.Asn32947Tyr)
c.98758A>T (p.Asn32920Tyr)
c.80521A>T (p.Asn26841Tyr)
c.70375A>T (p.Asn23459Tyr)
2g.178527500T>CCA349399901TTN,TTN-AS1c.99922A>G (p.Asn33308Asp)
c.81007A>G (p.Asn27003Asp)
c.80806A>G (p.Asn26936Asp)
c.80431A>G (p.Asn26811Asp)
c.107626A>G (p.Asn35876Asp)
c.102703A>G (p.Asn34235Asp)
n.446+3864T>C
n.219+3864T>C
c.106723A>G (p.Asn35575Asp)
c.80617A>G (p.Asn26873Asp)
c.80476A>G (p.Asn26826Asp)
c.106519A>G (p.Asn35507Asp)
c.101917A>G (p.Asn33973Asp)
c.101914A>G (p.Asn33972Asp)
c.98956A>G (p.Asn32986Asp)
c.80572A>G (p.Asn26858Asp)
c.102067A>G (p.Asn34023Asp)
c.102064A>G (p.Asn34022Asp)
c.101497A>G (p.Asn33833Asp)
c.98839A>G (p.Asn32947Asp)
c.98758A>G (p.Asn32920Asp)
c.80521A>G (p.Asn26841Asp)
c.70375A>G (p.Asn23459Asp)
2g.178527500T>GCA349399903TTN,TTN-AS1c.99922A>C (p.Asn33308His)
c.81007A>C (p.Asn27003His)
c.80806A>C (p.Asn26936His)
c.80431A>C (p.Asn26811His)
c.107626A>C (p.Asn35876His)
c.102703A>C (p.Asn34235His)
n.446+3864T>G
n.219+3864T>G
c.106723A>C (p.Asn35575His)
c.80617A>C (p.Asn26873His)
c.80476A>C (p.Asn26826His)
c.106519A>C (p.Asn35507His)
c.101917A>C (p.Asn33973His)
c.101914A>C (p.Asn33972His)
c.98956A>C (p.Asn32986His)
c.80572A>C (p.Asn26858His)
c.102067A>C (p.Asn34023His)
c.102064A>C (p.Asn34022His)
c.101497A>C (p.Asn33833His)
c.98839A>C (p.Asn32947His)
c.98758A>C (p.Asn32920His)
c.80521A>C (p.Asn26841His)
c.70375A>C (p.Asn23459His)
2g.178527502_178527505dupCA913189590TTN,TTN-AS1c.99919_99922dup (p.Asn33308IlefsTer2)
c.81004_81007dup (p.Asn27003IlefsTer2)
c.80803_80806dup (p.Asn26936IlefsTer2)
c.80428_80431dup (p.Asn26811IlefsTer2)
c.107623_107626dup (p.Asn35876IlefsTer2)
c.102700_102703dup (p.Asn34235IlefsTer2)
n.446+3866_446+3869dup
n.219+3866_219+3869dup
c.106720_106723dup (p.Asn35575IlefsTer2)
c.80614_80617dup (p.Asn26873IlefsTer2)
c.80473_80476dup (p.Asn26826IlefsTer2)
c.106516_106519dup (p.Asn35507IlefsTer2)
c.101914_101917dup (p.Asn33973IlefsTer2)
c.101911_101914dup (p.Asn33972IlefsTer2)
c.98953_98956dup (p.Asn32986IlefsTer2)
c.80569_80572dup (p.Asn26858IlefsTer2)
c.102064_102067dup (p.Asn34023IlefsTer2)
c.102061_102064dup (p.Asn34022IlefsTer2)
c.101494_101497dup (p.Asn33833IlefsTer2)
c.98836_98839dup (p.Asn32947IlefsTer2)
c.98755_98758dup (p.Asn32920IlefsTer2)
c.80518_80521dup (p.Asn26841IlefsTer2)
c.70372_70375dup (p.Asn23459IlefsTer2)
 ClinVar dbSNP
2g.178527501A>CCA430234213TTN,TTN-AS1c.99921T>G (p.Ser33307=)
c.81006T>G (p.Ser27002=)
c.80805T>G (p.Ser26935=)
c.80430T>G (p.Ser26810=)
c.107625T>G (p.Ser35875=)
c.102702T>G (p.Ser34234=)
n.446+3865A>C
n.219+3865A>C
c.106722T>G (p.Ser35574=)
c.80616T>G (p.Ser26872=)
c.80475T>G (p.Ser26825=)
c.106518T>G (p.Ser35506=)
c.101916T>G (p.Ser33972=)
c.101913T>G (p.Ser33971=)
c.98955T>G (p.Ser32985=)
c.80571T>G (p.Ser26857=)
c.102066T>G (p.Ser34022=)
c.102063T>G (p.Ser34021=)
c.101496T>G (p.Ser33832=)
c.98838T>G (p.Ser32946=)
c.98757T>G (p.Ser32919=)
c.80520T>G (p.Ser26840=)
c.70374T>G (p.Ser23458=)
2g.178527501A>GCA430234214TTN,TTN-AS1c.99921T>C (p.Ser33307=)
c.81006T>C (p.Ser27002=)
c.80805T>C (p.Ser26935=)
c.80430T>C (p.Ser26810=)
c.107625T>C (p.Ser35875=)
c.102702T>C (p.Ser34234=)
n.446+3865A>G
n.219+3865A>G
c.106722T>C (p.Ser35574=)
c.80616T>C (p.Ser26872=)
c.80475T>C (p.Ser26825=)
c.106518T>C (p.Ser35506=)
c.101916T>C (p.Ser33972=)
c.101913T>C (p.Ser33971=)
c.98955T>C (p.Ser32985=)
c.80571T>C (p.Ser26857=)
c.102066T>C (p.Ser34022=)
c.102063T>C (p.Ser34021=)
c.101496T>C (p.Ser33832=)
c.98838T>C (p.Ser32946=)
c.98757T>C (p.Ser32919=)
c.80520T>C (p.Ser26840=)
c.70374T>C (p.Ser23458=)
2g.178527501A>TCA430234215TTN,TTN-AS1c.99921T>A (p.Ser33307=)
c.81006T>A (p.Ser27002=)
c.80805T>A (p.Ser26935=)
c.80430T>A (p.Ser26810=)
c.107625T>A (p.Ser35875=)
c.102702T>A (p.Ser34234=)
n.446+3865A>T
n.219+3865A>T
c.106722T>A (p.Ser35574=)
c.80616T>A (p.Ser26872=)
c.80475T>A (p.Ser26825=)
c.106518T>A (p.Ser35506=)
c.101916T>A (p.Ser33972=)
c.101913T>A (p.Ser33971=)
c.98955T>A (p.Ser32985=)
c.80571T>A (p.Ser26857=)
c.102066T>A (p.Ser34022=)
c.102063T>A (p.Ser34021=)
c.101496T>A (p.Ser33832=)
c.98838T>A (p.Ser32946=)
c.98757T>A (p.Ser32919=)
c.80520T>A (p.Ser26840=)
c.70374T>A (p.Ser23458=)
2g.178527502G>ACA349399905TTN,TTN-AS1c.99920C>T (p.Ser33307Phe)
c.81005C>T (p.Ser27002Phe)
c.80804C>T (p.Ser26935Phe)
c.80429C>T (p.Ser26810Phe)
c.107624C>T (p.Ser35875Phe)
c.102701C>T (p.Ser34234Phe)
n.446+3866G>A
n.219+3866G>A
c.106721C>T (p.Ser35574Phe)
c.80615C>T (p.Ser26872Phe)
c.80474C>T (p.Ser26825Phe)
c.106517C>T (p.Ser35506Phe)
c.101915C>T (p.Ser33972Phe)
c.101912C>T (p.Ser33971Phe)
c.98954C>T (p.Ser32985Phe)
c.80570C>T (p.Ser26857Phe)
c.102065C>T (p.Ser34022Phe)
c.102062C>T (p.Ser34021Phe)
c.101495C>T (p.Ser33832Phe)
c.98837C>T (p.Ser32946Phe)
c.98756C>T (p.Ser32919Phe)
c.80519C>T (p.Ser26840Phe)
c.70373C>T (p.Ser23458Phe)
2g.178527502G>CCA349399906TTN,TTN-AS1c.99920C>G (p.Ser33307Cys)
c.81005C>G (p.Ser27002Cys)
c.80804C>G (p.Ser26935Cys)
c.80429C>G (p.Ser26810Cys)
c.107624C>G (p.Ser35875Cys)
c.102701C>G (p.Ser34234Cys)
n.446+3866G>C
n.219+3866G>C
c.106721C>G (p.Ser35574Cys)
c.80615C>G (p.Ser26872Cys)
c.80474C>G (p.Ser26825Cys)
c.106517C>G (p.Ser35506Cys)
c.101915C>G (p.Ser33972Cys)
c.101912C>G (p.Ser33971Cys)
c.98954C>G (p.Ser32985Cys)
c.80570C>G (p.Ser26857Cys)
c.102065C>G (p.Ser34022Cys)
c.102062C>G (p.Ser34021Cys)
c.101495C>G (p.Ser33832Cys)
c.98837C>G (p.Ser32946Cys)
c.98756C>G (p.Ser32919Cys)
c.80519C>G (p.Ser26840Cys)
c.70373C>G (p.Ser23458Cys)
 gnomAD v4
2g.178527502G>TCA349399907TTN,TTN-AS1c.99920C>A (p.Ser33307Tyr)
c.81005C>A (p.Ser27002Tyr)
c.80804C>A (p.Ser26935Tyr)
c.80429C>A (p.Ser26810Tyr)
c.107624C>A (p.Ser35875Tyr)
c.102701C>A (p.Ser34234Tyr)
n.446+3866G>T
n.219+3866G>T
c.106721C>A (p.Ser35574Tyr)
c.80615C>A (p.Ser26872Tyr)
c.80474C>A (p.Ser26825Tyr)
c.106517C>A (p.Ser35506Tyr)
c.101915C>A (p.Ser33972Tyr)
c.101912C>A (p.Ser33971Tyr)
c.98954C>A (p.Ser32985Tyr)
c.80570C>A (p.Ser26857Tyr)
c.102065C>A (p.Ser34022Tyr)
c.102062C>A (p.Ser34021Tyr)
c.101495C>A (p.Ser33832Tyr)
c.98837C>A (p.Ser32946Tyr)
c.98756C>A (p.Ser32919Tyr)
c.80519C>A (p.Ser26840Tyr)
c.70373C>A (p.Ser23458Tyr)
2g.178527503A>CCA349399908TTN,TTN-AS1c.99919T>G (p.Ser33307Ala)
c.81004T>G (p.Ser27002Ala)
c.80803T>G (p.Ser26935Ala)
c.80428T>G (p.Ser26810Ala)
c.107623T>G (p.Ser35875Ala)
c.102700T>G (p.Ser34234Ala)
n.446+3867A>C
n.219+3867A>C
c.106720T>G (p.Ser35574Ala)
c.80614T>G (p.Ser26872Ala)
c.80473T>G (p.Ser26825Ala)
c.106516T>G (p.Ser35506Ala)
c.101914T>G (p.Ser33972Ala)
c.101911T>G (p.Ser33971Ala)
c.98953T>G (p.Ser32985Ala)
c.80569T>G (p.Ser26857Ala)
c.102064T>G (p.Ser34022Ala)
c.102061T>G (p.Ser34021Ala)
c.101494T>G (p.Ser33832Ala)
c.98836T>G (p.Ser32946Ala)
c.98755T>G (p.Ser32919Ala)
c.80518T>G (p.Ser26840Ala)
c.70372T>G (p.Ser23458Ala)
2g.178527503A>GCA349399909TTN,TTN-AS1c.99919T>C (p.Ser33307Pro)
c.81004T>C (p.Ser27002Pro)
c.80803T>C (p.Ser26935Pro)
c.80428T>C (p.Ser26810Pro)
c.107623T>C (p.Ser35875Pro)
c.102700T>C (p.Ser34234Pro)
n.446+3867A>G
n.219+3867A>G
c.106720T>C (p.Ser35574Pro)
c.80614T>C (p.Ser26872Pro)
c.80473T>C (p.Ser26825Pro)
c.106516T>C (p.Ser35506Pro)
c.101914T>C (p.Ser33972Pro)
c.101911T>C (p.Ser33971Pro)
c.98953T>C (p.Ser32985Pro)
c.80569T>C (p.Ser26857Pro)
c.102064T>C (p.Ser34022Pro)
c.102061T>C (p.Ser34021Pro)
c.101494T>C (p.Ser33832Pro)
c.98836T>C (p.Ser32946Pro)
c.98755T>C (p.Ser32919Pro)
c.80518T>C (p.Ser26840Pro)
c.70372T>C (p.Ser23458Pro)
 ClinVar
2g.178527503A>TCA349399910TTN,TTN-AS1c.99919T>A (p.Ser33307Thr)
c.81004T>A (p.Ser27002Thr)
c.80803T>A (p.Ser26935Thr)
c.80428T>A (p.Ser26810Thr)
c.107623T>A (p.Ser35875Thr)
c.102700T>A (p.Ser34234Thr)
n.446+3867A>T
n.219+3867A>T
c.106720T>A (p.Ser35574Thr)
c.80614T>A (p.Ser26872Thr)
c.80473T>A (p.Ser26825Thr)
c.106516T>A (p.Ser35506Thr)
c.101914T>A (p.Ser33972Thr)
c.101911T>A (p.Ser33971Thr)
c.98953T>A (p.Ser32985Thr)
c.80569T>A (p.Ser26857Thr)
c.102064T>A (p.Ser34022Thr)
c.102061T>A (p.Ser34021Thr)
c.101494T>A (p.Ser33832Thr)
c.98836T>A (p.Ser32946Thr)
c.98755T>A (p.Ser32919Thr)
c.80518T>A (p.Ser26840Thr)
c.70372T>A (p.Ser23458Thr)
2g.178527504T>ACA1984920TTN,TTN-AS1c.99918A>T (p.Ile33306=)
c.81003A>T (p.Ile27001=)
c.80802A>T (p.Ile26934=)
c.80427A>T (p.Ile26809=)
c.107622A>T (p.Ile35874=)
c.102699A>T (p.Ile34233=)
n.446+3868T>A
n.219+3868T>A
c.106719A>T (p.Ile35573=)
c.80613A>T (p.Ile26871=)
c.80472A>T (p.Ile26824=)
c.106515A>T (p.Ile35505=)
c.101913A>T (p.Ile33971=)
c.101910A>T (p.Ile33970=)
c.98952A>T (p.Ile32984=)
c.80568A>T (p.Ile26856=)
c.102063A>T (p.Ile34021=)
c.102060A>T (p.Ile34020=)
c.101493A>T (p.Ile33831=)
c.98835A>T (p.Ile32945=)
c.98754A>T (p.Ile32918=)
c.80517A>T (p.Ile26839=)
c.70371A>T (p.Ile23457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527504T>CCA349399912TTN,TTN-AS1c.99918A>G (p.Ile33306Met)
c.81003A>G (p.Ile27001Met)
c.80802A>G (p.Ile26934Met)
c.80427A>G (p.Ile26809Met)
c.107622A>G (p.Ile35874Met)
c.102699A>G (p.Ile34233Met)
n.446+3868T>C
n.219+3868T>C
c.106719A>G (p.Ile35573Met)
c.80613A>G (p.Ile26871Met)
c.80472A>G (p.Ile26824Met)
c.106515A>G (p.Ile35505Met)
c.101913A>G (p.Ile33971Met)
c.101910A>G (p.Ile33970Met)
c.98952A>G (p.Ile32984Met)
c.80568A>G (p.Ile26856Met)
c.102063A>G (p.Ile34021Met)
c.102060A>G (p.Ile34020Met)
c.101493A>G (p.Ile33831Met)
c.98835A>G (p.Ile32945Met)
c.98754A>G (p.Ile32918Met)
c.80517A>G (p.Ile26839Met)
c.70371A>G (p.Ile23457Met)
2g.178527504T>GCA430234226TTN,TTN-AS1c.99918A>C (p.Ile33306=)
c.81003A>C (p.Ile27001=)
c.80802A>C (p.Ile26934=)
c.80427A>C (p.Ile26809=)
c.107622A>C (p.Ile35874=)
c.102699A>C (p.Ile34233=)
n.446+3868T>G
n.219+3868T>G
c.106719A>C (p.Ile35573=)
c.80613A>C (p.Ile26871=)
c.80472A>C (p.Ile26824=)
c.106515A>C (p.Ile35505=)
c.101913A>C (p.Ile33971=)
c.101910A>C (p.Ile33970=)
c.98952A>C (p.Ile32984=)
c.80568A>C (p.Ile26856=)
c.102063A>C (p.Ile34021=)
c.102060A>C (p.Ile34020=)
c.101493A>C (p.Ile33831=)
c.98835A>C (p.Ile32945=)
c.98754A>C (p.Ile32918=)
c.80517A>C (p.Ile26839=)
c.70371A>C (p.Ile23457=)
2g.178527504T=CA1310514499TTN,TTN-AS1c.99918A= (p.Ile33306=)
c.81003A= (p.Ile27001=)
c.80802A= (p.Ile26934=)
c.80427A= (p.Ile26809=)
c.107622A= (p.Ile35874=)
c.102699A= (p.Ile34233=)
n.446+3868T=
n.219+3868T=
c.106719A= (p.Ile35573=)
c.80613A= (p.Ile26871=)
c.80472A= (p.Ile26824=)
c.106515A= (p.Ile35505=)
c.101913A= (p.Ile33971=)
c.101910A= (p.Ile33970=)
c.98952A= (p.Ile32984=)
c.80568A= (p.Ile26856=)
c.102063A= (p.Ile34021=)
c.102060A= (p.Ile34020=)
c.101493A= (p.Ile33831=)
c.98835A= (p.Ile32945=)
c.98754A= (p.Ile32918=)
c.80517A= (p.Ile26839=)
c.70371A= (p.Ile23457=)
2g.178527505A=CA1310514500TTN,TTN-AS1c.99917T= (p.Ile33306=)
c.81002T= (p.Ile27001=)
c.80801T= (p.Ile26934=)
c.80426T= (p.Ile26809=)
c.107621T= (p.Ile35874=)
c.102698T= (p.Ile34233=)
n.446+3869A=
n.219+3869A=
c.106718T= (p.Ile35573=)
c.80612T= (p.Ile26871=)
c.80471T= (p.Ile26824=)
c.106514T= (p.Ile35505=)
c.101912T= (p.Ile33971=)
c.101909T= (p.Ile33970=)
c.98951T= (p.Ile32984=)
c.80567T= (p.Ile26856=)
c.102062T= (p.Ile34021=)
c.102059T= (p.Ile34020=)
c.101492T= (p.Ile33831=)
c.98834T= (p.Ile32945=)
c.98753T= (p.Ile32918=)
c.80516T= (p.Ile26839=)
c.70370T= (p.Ile23457=)
2g.178527505A>CCA349399915TTN,TTN-AS1c.99917T>G (p.Ile33306Arg)
c.81002T>G (p.Ile27001Arg)
c.80801T>G (p.Ile26934Arg)
c.80426T>G (p.Ile26809Arg)
c.107621T>G (p.Ile35874Arg)
c.102698T>G (p.Ile34233Arg)
n.446+3869A>C
n.219+3869A>C
c.106718T>G (p.Ile35573Arg)
c.80612T>G (p.Ile26871Arg)
c.80471T>G (p.Ile26824Arg)
c.106514T>G (p.Ile35505Arg)
c.101912T>G (p.Ile33971Arg)
c.101909T>G (p.Ile33970Arg)
c.98951T>G (p.Ile32984Arg)
c.80567T>G (p.Ile26856Arg)
c.102062T>G (p.Ile34021Arg)
c.102059T>G (p.Ile34020Arg)
c.101492T>G (p.Ile33831Arg)
c.98834T>G (p.Ile32945Arg)
c.98753T>G (p.Ile32918Arg)
c.80516T>G (p.Ile26839Arg)
c.70370T>G (p.Ile23457Arg)
2g.178527505A>GCA349399917TTN,TTN-AS1c.99917T>C (p.Ile33306Thr)
c.81002T>C (p.Ile27001Thr)
c.80801T>C (p.Ile26934Thr)
c.80426T>C (p.Ile26809Thr)
c.107621T>C (p.Ile35874Thr)
c.102698T>C (p.Ile34233Thr)
n.446+3869A>G
n.219+3869A>G
c.106718T>C (p.Ile35573Thr)
c.80612T>C (p.Ile26871Thr)
c.80471T>C (p.Ile26824Thr)
c.106514T>C (p.Ile35505Thr)
c.101912T>C (p.Ile33971Thr)
c.101909T>C (p.Ile33970Thr)
c.98951T>C (p.Ile32984Thr)
c.80567T>C (p.Ile26856Thr)
c.102062T>C (p.Ile34021Thr)
c.102059T>C (p.Ile34020Thr)
c.101492T>C (p.Ile33831Thr)
c.98834T>C (p.Ile32945Thr)
c.98753T>C (p.Ile32918Thr)
c.80516T>C (p.Ile26839Thr)
c.70370T>C (p.Ile23457Thr)
2g.178527505A>TCA349399914TTN,TTN-AS1c.99917T>A (p.Ile33306Lys)
c.81002T>A (p.Ile27001Lys)
c.80801T>A (p.Ile26934Lys)
c.80426T>A (p.Ile26809Lys)
c.107621T>A (p.Ile35874Lys)
c.102698T>A (p.Ile34233Lys)
n.446+3869A>T
n.219+3869A>T
c.106718T>A (p.Ile35573Lys)
c.80612T>A (p.Ile26871Lys)
c.80471T>A (p.Ile26824Lys)
c.106514T>A (p.Ile35505Lys)
c.101912T>A (p.Ile33971Lys)
c.101909T>A (p.Ile33970Lys)
c.98951T>A (p.Ile32984Lys)
c.80567T>A (p.Ile26856Lys)
c.102062T>A (p.Ile34021Lys)
c.102059T>A (p.Ile34020Lys)
c.101492T>A (p.Ile33831Lys)
c.98834T>A (p.Ile32945Lys)
c.98753T>A (p.Ile32918Lys)
c.80516T>A (p.Ile26839Lys)
c.70370T>A (p.Ile23457Lys)
 dbSNP
2g.178527506T>ACA349399919TTN,TTN-AS1c.99916A>T (p.Ile33306Leu)
c.81001A>T (p.Ile27001Leu)
c.80800A>T (p.Ile26934Leu)
c.80425A>T (p.Ile26809Leu)
c.107620A>T (p.Ile35874Leu)
c.102697A>T (p.Ile34233Leu)
n.446+3870T>A
n.219+3870T>A
c.106717A>T (p.Ile35573Leu)
c.80611A>T (p.Ile26871Leu)
c.80470A>T (p.Ile26824Leu)
c.106513A>T (p.Ile35505Leu)
c.101911A>T (p.Ile33971Leu)
c.101908A>T (p.Ile33970Leu)
c.98950A>T (p.Ile32984Leu)
c.80566A>T (p.Ile26856Leu)
c.102061A>T (p.Ile34021Leu)
c.102058A>T (p.Ile34020Leu)
c.101491A>T (p.Ile33831Leu)
c.98833A>T (p.Ile32945Leu)
c.98752A>T (p.Ile32918Leu)
c.80515A>T (p.Ile26839Leu)
c.70369A>T (p.Ile23457Leu)
2g.178527506T>CCA349399921TTN,TTN-AS1c.99916A>G (p.Ile33306Val)
c.81001A>G (p.Ile27001Val)
c.80800A>G (p.Ile26934Val)
c.80425A>G (p.Ile26809Val)
c.107620A>G (p.Ile35874Val)
c.102697A>G (p.Ile34233Val)
n.446+3870T>C
n.219+3870T>C
c.106717A>G (p.Ile35573Val)
c.80611A>G (p.Ile26871Val)
c.80470A>G (p.Ile26824Val)
c.106513A>G (p.Ile35505Val)
c.101911A>G (p.Ile33971Val)
c.101908A>G (p.Ile33970Val)
c.98950A>G (p.Ile32984Val)
c.80566A>G (p.Ile26856Val)
c.102061A>G (p.Ile34021Val)
c.102058A>G (p.Ile34020Val)
c.101491A>G (p.Ile33831Val)
c.98833A>G (p.Ile32945Val)
c.98752A>G (p.Ile32918Val)
c.80515A>G (p.Ile26839Val)
c.70369A>G (p.Ile23457Val)
 gnomAD v4
2g.178527506T>GCA349399922TTN,TTN-AS1c.99916A>C (p.Ile33306Leu)
c.81001A>C (p.Ile27001Leu)
c.80800A>C (p.Ile26934Leu)
c.80425A>C (p.Ile26809Leu)
c.107620A>C (p.Ile35874Leu)
c.102697A>C (p.Ile34233Leu)
n.446+3870T>G
n.219+3870T>G
c.106717A>C (p.Ile35573Leu)
c.80611A>C (p.Ile26871Leu)
c.80470A>C (p.Ile26824Leu)
c.106513A>C (p.Ile35505Leu)
c.101911A>C (p.Ile33971Leu)
c.101908A>C (p.Ile33970Leu)
c.98950A>C (p.Ile32984Leu)
c.80566A>C (p.Ile26856Leu)
c.102061A>C (p.Ile34021Leu)
c.102058A>C (p.Ile34020Leu)
c.101491A>C (p.Ile33831Leu)
c.98833A>C (p.Ile32945Leu)
c.98752A>C (p.Ile32918Leu)
c.80515A>C (p.Ile26839Leu)
c.70369A>C (p.Ile23457Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527506T=CA1310514501TTN,TTN-AS1c.99916A= (p.Ile33306=)
c.81001A= (p.Ile27001=)
c.80800A= (p.Ile26934=)
c.80425A= (p.Ile26809=)
c.107620A= (p.Ile35874=)
c.102697A= (p.Ile34233=)
n.446+3870T=
n.219+3870T=
c.106717A= (p.Ile35573=)
c.80611A= (p.Ile26871=)
c.80470A= (p.Ile26824=)
c.106513A= (p.Ile35505=)
c.101911A= (p.Ile33971=)
c.101908A= (p.Ile33970=)
c.98950A= (p.Ile32984=)
c.80566A= (p.Ile26856=)
c.102061A= (p.Ile34021=)
c.102058A= (p.Ile34020=)
c.101491A= (p.Ile33831=)
c.98833A= (p.Ile32945=)
c.98752A= (p.Ile32918=)
c.80515A= (p.Ile26839=)
c.70369A= (p.Ile23457=)
2g.178527507T>ACA430234233TTN,TTN-AS1c.99915A>T (p.Gly33305=)
c.81000A>T (p.Gly27000=)
c.80799A>T (p.Gly26933=)
c.80424A>T (p.Gly26808=)
c.107619A>T (p.Gly35873=)
c.102696A>T (p.Gly34232=)
n.446+3871T>A
n.219+3871T>A
c.106716A>T (p.Gly35572=)
c.80610A>T (p.Gly26870=)
c.80469A>T (p.Gly26823=)
c.106512A>T (p.Gly35504=)
c.101910A>T (p.Gly33970=)
c.101907A>T (p.Gly33969=)
c.98949A>T (p.Gly32983=)
c.80565A>T (p.Gly26855=)
c.102060A>T (p.Gly34020=)
c.102057A>T (p.Gly34019=)
c.101490A>T (p.Gly33830=)
c.98832A>T (p.Gly32944=)
c.98751A>T (p.Gly32917=)
c.80514A>T (p.Gly26838=)
c.70368A>T (p.Gly23456=)
 dbSNP gnomAD v2
2g.178527507T>CCA430234235TTN,TTN-AS1c.99915A>G (p.Gly33305=)
c.81000A>G (p.Gly27000=)
c.80799A>G (p.Gly26933=)
c.80424A>G (p.Gly26808=)
c.107619A>G (p.Gly35873=)
c.102696A>G (p.Gly34232=)
n.446+3871T>C
n.219+3871T>C
c.106716A>G (p.Gly35572=)
c.80610A>G (p.Gly26870=)
c.80469A>G (p.Gly26823=)
c.106512A>G (p.Gly35504=)
c.101910A>G (p.Gly33970=)
c.101907A>G (p.Gly33969=)
c.98949A>G (p.Gly32983=)
c.80565A>G (p.Gly26855=)
c.102060A>G (p.Gly34020=)
c.102057A>G (p.Gly34019=)
c.101490A>G (p.Gly33830=)
c.98832A>G (p.Gly32944=)
c.98751A>G (p.Gly32917=)
c.80514A>G (p.Gly26838=)
c.70368A>G (p.Gly23456=)
2g.178527507T>GCA430234237TTN,TTN-AS1c.99915A>C (p.Gly33305=)
c.81000A>C (p.Gly27000=)
c.80799A>C (p.Gly26933=)
c.80424A>C (p.Gly26808=)
c.107619A>C (p.Gly35873=)
c.102696A>C (p.Gly34232=)
n.446+3871T>G
n.219+3871T>G
c.106716A>C (p.Gly35572=)
c.80610A>C (p.Gly26870=)
c.80469A>C (p.Gly26823=)
c.106512A>C (p.Gly35504=)
c.101910A>C (p.Gly33970=)
c.101907A>C (p.Gly33969=)
c.98949A>C (p.Gly32983=)
c.80565A>C (p.Gly26855=)
c.102060A>C (p.Gly34020=)
c.102057A>C (p.Gly34019=)
c.101490A>C (p.Gly33830=)
c.98832A>C (p.Gly32944=)
c.98751A>C (p.Gly32917=)
c.80514A>C (p.Gly26838=)
c.70368A>C (p.Gly23456=)
2g.178527507T=CA1310514502TTN,TTN-AS1c.99915A= (p.Gly33305=)
c.81000A= (p.Gly27000=)
c.80799A= (p.Gly26933=)
c.80424A= (p.Gly26808=)
c.107619A= (p.Gly35873=)
c.102696A= (p.Gly34232=)
n.446+3871T=
n.219+3871T=
c.106716A= (p.Gly35572=)
c.80610A= (p.Gly26870=)
c.80469A= (p.Gly26823=)
c.106512A= (p.Gly35504=)
c.101910A= (p.Gly33970=)
c.101907A= (p.Gly33969=)
c.98949A= (p.Gly32983=)
c.80565A= (p.Gly26855=)
c.102060A= (p.Gly34020=)
c.102057A= (p.Gly34019=)
c.101490A= (p.Gly33830=)
c.98832A= (p.Gly32944=)
c.98751A= (p.Gly32917=)
c.80514A= (p.Gly26838=)
c.70368A= (p.Gly23456=)
2g.178527508C>ACA349399924TTN,TTN-AS1c.99914G>T (p.Gly33305Val)
c.80999G>T (p.Gly27000Val)
c.80798G>T (p.Gly26933Val)
c.80423G>T (p.Gly26808Val)
c.107618G>T (p.Gly35873Val)
c.102695G>T (p.Gly34232Val)
n.446+3872C>A
n.219+3872C>A
c.106715G>T (p.Gly35572Val)
c.80609G>T (p.Gly26870Val)
c.80468G>T (p.Gly26823Val)
c.106511G>T (p.Gly35504Val)
c.101909G>T (p.Gly33970Val)
c.101906G>T (p.Gly33969Val)
c.98948G>T (p.Gly32983Val)
c.80564G>T (p.Gly26855Val)
c.102059G>T (p.Gly34020Val)
c.102056G>T (p.Gly34019Val)
c.101489G>T (p.Gly33830Val)
c.98831G>T (p.Gly32944Val)
c.98750G>T (p.Gly32917Val)
c.80513G>T (p.Gly26838Val)
c.70367G>T (p.Gly23456Val)
2g.178527508C=CA1310514503TTN,TTN-AS1c.99914G= (p.Gly33305=)
c.80999G= (p.Gly27000=)
c.80798G= (p.Gly26933=)
c.80423G= (p.Gly26808=)
c.107618G= (p.Gly35873=)
c.102695G= (p.Gly34232=)
n.446+3872C=
n.219+3872C=
c.106715G= (p.Gly35572=)
c.80609G= (p.Gly26870=)
c.80468G= (p.Gly26823=)
c.106511G= (p.Gly35504=)
c.101909G= (p.Gly33970=)
c.101906G= (p.Gly33969=)
c.98948G= (p.Gly32983=)
c.80564G= (p.Gly26855=)
c.102059G= (p.Gly34020=)
c.102056G= (p.Gly34019=)
c.101489G= (p.Gly33830=)
c.98831G= (p.Gly32944=)
c.98750G= (p.Gly32917=)
c.80513G= (p.Gly26838=)
c.70367G= (p.Gly23456=)
2g.178527508C>GCA349399925TTN,TTN-AS1c.99914G>C (p.Gly33305Ala)
c.80999G>C (p.Gly27000Ala)
c.80798G>C (p.Gly26933Ala)
c.80423G>C (p.Gly26808Ala)
c.107618G>C (p.Gly35873Ala)
c.102695G>C (p.Gly34232Ala)
n.446+3872C>G
n.219+3872C>G
c.106715G>C (p.Gly35572Ala)
c.80609G>C (p.Gly26870Ala)
c.80468G>C (p.Gly26823Ala)
c.106511G>C (p.Gly35504Ala)
c.101909G>C (p.Gly33970Ala)
c.101906G>C (p.Gly33969Ala)
c.98948G>C (p.Gly32983Ala)
c.80564G>C (p.Gly26855Ala)
c.102059G>C (p.Gly34020Ala)
c.102056G>C (p.Gly34019Ala)
c.101489G>C (p.Gly33830Ala)
c.98831G>C (p.Gly32944Ala)
c.98750G>C (p.Gly32917Ala)
c.80513G>C (p.Gly26838Ala)
c.70367G>C (p.Gly23456Ala)
2g.178527508C>TCA1984921TTN,TTN-AS1c.99914G>A (p.Gly33305Glu)
c.80999G>A (p.Gly27000Glu)
c.80798G>A (p.Gly26933Glu)
c.80423G>A (p.Gly26808Glu)
c.107618G>A (p.Gly35873Glu)
c.102695G>A (p.Gly34232Glu)
n.446+3872C>T
n.219+3872C>T
c.106715G>A (p.Gly35572Glu)
c.80609G>A (p.Gly26870Glu)
c.80468G>A (p.Gly26823Glu)
c.106511G>A (p.Gly35504Glu)
c.101909G>A (p.Gly33970Glu)
c.101906G>A (p.Gly33969Glu)
c.98948G>A (p.Gly32983Glu)
c.80564G>A (p.Gly26855Glu)
c.102059G>A (p.Gly34020Glu)
c.102056G>A (p.Gly34019Glu)
c.101489G>A (p.Gly33830Glu)
c.98831G>A (p.Gly32944Glu)
c.98750G>A (p.Gly32917Glu)
c.80513G>A (p.Gly26838Glu)
c.70367G>A (p.Gly23456Glu)
 dbSNP ExAC gnomAD v2
2g.178527509C>ACA349399928TTN,TTN-AS1c.99913G>T (p.Gly33305Ter)
c.80998G>T (p.Gly27000Ter)
c.80797G>T (p.Gly26933Ter)
c.80422G>T (p.Gly26808Ter)
c.107617G>T (p.Gly35873Ter)
c.102694G>T (p.Gly34232Ter)
n.446+3873C>A
n.219+3873C>A
c.106714G>T (p.Gly35572Ter)
c.80608G>T (p.Gly26870Ter)
c.80467G>T (p.Gly26823Ter)
c.106510G>T (p.Gly35504Ter)
c.101908G>T (p.Gly33970Ter)
c.101905G>T (p.Gly33969Ter)
c.98947G>T (p.Gly32983Ter)
c.80563G>T (p.Gly26855Ter)
c.102058G>T (p.Gly34020Ter)
c.102055G>T (p.Gly34019Ter)
c.101488G>T (p.Gly33830Ter)
c.98830G>T (p.Gly32944Ter)
c.98749G>T (p.Gly32917Ter)
c.80512G>T (p.Gly26838Ter)
c.70366G>T (p.Gly23456Ter)
 ClinVar
2g.178527509C=CA1310514504TTN,TTN-AS1c.99913G= (p.Gly33305=)
c.80998G= (p.Gly27000=)
c.80797G= (p.Gly26933=)
c.80422G= (p.Gly26808=)
c.107617G= (p.Gly35873=)
c.102694G= (p.Gly34232=)
n.446+3873C=
n.219+3873C=
c.106714G= (p.Gly35572=)
c.80608G= (p.Gly26870=)
c.80467G= (p.Gly26823=)
c.106510G= (p.Gly35504=)
c.101908G= (p.Gly33970=)
c.101905G= (p.Gly33969=)
c.98947G= (p.Gly32983=)
c.80563G= (p.Gly26855=)
c.102058G= (p.Gly34020=)
c.102055G= (p.Gly34019=)
c.101488G= (p.Gly33830=)
c.98830G= (p.Gly32944=)
c.98749G= (p.Gly32917=)
c.80512G= (p.Gly26838=)
c.70366G= (p.Gly23456=)
2g.178527509C>GCA1984922TTN,TTN-AS1c.99913G>C (p.Gly33305Arg)
c.80998G>C (p.Gly27000Arg)
c.80797G>C (p.Gly26933Arg)
c.80422G>C (p.Gly26808Arg)
c.107617G>C (p.Gly35873Arg)
c.102694G>C (p.Gly34232Arg)
n.446+3873C>G
n.219+3873C>G
c.106714G>C (p.Gly35572Arg)
c.80608G>C (p.Gly26870Arg)
c.80467G>C (p.Gly26823Arg)
c.106510G>C (p.Gly35504Arg)
c.101908G>C (p.Gly33970Arg)
c.101905G>C (p.Gly33969Arg)
c.98947G>C (p.Gly32983Arg)
c.80563G>C (p.Gly26855Arg)
c.102058G>C (p.Gly34020Arg)
c.102055G>C (p.Gly34019Arg)
c.101488G>C (p.Gly33830Arg)
c.98830G>C (p.Gly32944Arg)
c.98749G>C (p.Gly32917Arg)
c.80512G>C (p.Gly26838Arg)
c.70366G>C (p.Gly23456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527509C>TCA1984923TTN,TTN-AS1c.99913G>A (p.Gly33305Arg)
c.80998G>A (p.Gly27000Arg)
c.80797G>A (p.Gly26933Arg)
c.80422G>A (p.Gly26808Arg)
c.107617G>A (p.Gly35873Arg)
c.102694G>A (p.Gly34232Arg)
n.446+3873C>T
n.219+3873C>T
c.106714G>A (p.Gly35572Arg)
c.80608G>A (p.Gly26870Arg)
c.80467G>A (p.Gly26823Arg)
c.106510G>A (p.Gly35504Arg)
c.101908G>A (p.Gly33970Arg)
c.101905G>A (p.Gly33969Arg)
c.98947G>A (p.Gly32983Arg)
c.80563G>A (p.Gly26855Arg)
c.102058G>A (p.Gly34020Arg)
c.102055G>A (p.Gly34019Arg)
c.101488G>A (p.Gly33830Arg)
c.98830G>A (p.Gly32944Arg)
c.98749G>A (p.Gly32917Arg)
c.80512G>A (p.Gly26838Arg)
c.70366G>A (p.Gly23456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527510C>ACA349399931TTN,TTN-AS1c.99912G>T (p.Met33304Ile)
c.80997G>T (p.Met26999Ile)
c.80796G>T (p.Met26932Ile)
c.80421G>T (p.Met26807Ile)
c.107616G>T (p.Met35872Ile)
c.102693G>T (p.Met34231Ile)
n.446+3874C>A
n.219+3874C>A
c.106713G>T (p.Met35571Ile)
c.80607G>T (p.Met26869Ile)
c.80466G>T (p.Met26822Ile)
c.106509G>T (p.Met35503Ile)
c.101907G>T (p.Met33969Ile)
c.101904G>T (p.Met33968Ile)
c.98946G>T (p.Met32982Ile)
c.80562G>T (p.Met26854Ile)
c.102057G>T (p.Met34019Ile)
c.102054G>T (p.Met34018Ile)
c.101487G>T (p.Met33829Ile)
c.98829G>T (p.Met32943Ile)
c.98748G>T (p.Met32916Ile)
c.80511G>T (p.Met26837Ile)
c.70365G>T (p.Met23455Ile)
2g.178527510C>GCA349399933TTN,TTN-AS1c.99912G>C (p.Met33304Ile)
c.80997G>C (p.Met26999Ile)
c.80796G>C (p.Met26932Ile)
c.80421G>C (p.Met26807Ile)
c.107616G>C (p.Met35872Ile)
c.102693G>C (p.Met34231Ile)
n.446+3874C>G
n.219+3874C>G
c.106713G>C (p.Met35571Ile)
c.80607G>C (p.Met26869Ile)
c.80466G>C (p.Met26822Ile)
c.106509G>C (p.Met35503Ile)
c.101907G>C (p.Met33969Ile)
c.101904G>C (p.Met33968Ile)
c.98946G>C (p.Met32982Ile)
c.80562G>C (p.Met26854Ile)
c.102057G>C (p.Met34019Ile)
c.102054G>C (p.Met34018Ile)
c.101487G>C (p.Met33829Ile)
c.98829G>C (p.Met32943Ile)
c.98748G>C (p.Met32916Ile)
c.80511G>C (p.Met26837Ile)
c.70365G>C (p.Met23455Ile)
2g.178527510C>TCA349399934TTN,TTN-AS1c.99912G>A (p.Met33304Ile)
c.80997G>A (p.Met26999Ile)
c.80796G>A (p.Met26932Ile)
c.80421G>A (p.Met26807Ile)
c.107616G>A (p.Met35872Ile)
c.102693G>A (p.Met34231Ile)
n.446+3874C>T
n.219+3874C>T
c.106713G>A (p.Met35571Ile)
c.80607G>A (p.Met26869Ile)
c.80466G>A (p.Met26822Ile)
c.106509G>A (p.Met35503Ile)
c.101907G>A (p.Met33969Ile)
c.101904G>A (p.Met33968Ile)
c.98946G>A (p.Met32982Ile)
c.80562G>A (p.Met26854Ile)
c.102057G>A (p.Met34019Ile)
c.102054G>A (p.Met34018Ile)
c.101487G>A (p.Met33829Ile)
c.98829G>A (p.Met32943Ile)
c.98748G>A (p.Met32916Ile)
c.80511G>A (p.Met26837Ile)
c.70365G>A (p.Met23455Ile)
2g.178527511A>CCA349399937TTN,TTN-AS1c.99911T>G (p.Met33304Arg)
c.80996T>G (p.Met26999Arg)
c.80795T>G (p.Met26932Arg)
c.80420T>G (p.Met26807Arg)
c.107615T>G (p.Met35872Arg)
c.102692T>G (p.Met34231Arg)
n.446+3875A>C
n.219+3875A>C
c.106712T>G (p.Met35571Arg)
c.80606T>G (p.Met26869Arg)
c.80465T>G (p.Met26822Arg)
c.106508T>G (p.Met35503Arg)
c.101906T>G (p.Met33969Arg)
c.101903T>G (p.Met33968Arg)
c.98945T>G (p.Met32982Arg)
c.80561T>G (p.Met26854Arg)
c.102056T>G (p.Met34019Arg)
c.102053T>G (p.Met34018Arg)
c.101486T>G (p.Met33829Arg)
c.98828T>G (p.Met32943Arg)
c.98747T>G (p.Met32916Arg)
c.80510T>G (p.Met26837Arg)
c.70364T>G (p.Met23455Arg)
2g.178527511A>GCA349399936TTN,TTN-AS1c.99911T>C (p.Met33304Thr)
c.80996T>C (p.Met26999Thr)
c.80795T>C (p.Met26932Thr)
c.80420T>C (p.Met26807Thr)
c.107615T>C (p.Met35872Thr)
c.102692T>C (p.Met34231Thr)
n.446+3875A>G
n.219+3875A>G
c.106712T>C (p.Met35571Thr)
c.80606T>C (p.Met26869Thr)
c.80465T>C (p.Met26822Thr)
c.106508T>C (p.Met35503Thr)
c.101906T>C (p.Met33969Thr)
c.101903T>C (p.Met33968Thr)
c.98945T>C (p.Met32982Thr)
c.80561T>C (p.Met26854Thr)
c.102056T>C (p.Met34019Thr)
c.102053T>C (p.Met34018Thr)
c.101486T>C (p.Met33829Thr)
c.98828T>C (p.Met32943Thr)
c.98747T>C (p.Met32916Thr)
c.80510T>C (p.Met26837Thr)
c.70364T>C (p.Met23455Thr)
 dbSNP gnomAD v4
2g.178527511A>TCA349399935TTN,TTN-AS1c.99911T>A (p.Met33304Lys)
c.80996T>A (p.Met26999Lys)
c.80795T>A (p.Met26932Lys)
c.80420T>A (p.Met26807Lys)
c.107615T>A (p.Met35872Lys)
c.102692T>A (p.Met34231Lys)
n.446+3875A>T
n.219+3875A>T
c.106712T>A (p.Met35571Lys)
c.80606T>A (p.Met26869Lys)
c.80465T>A (p.Met26822Lys)
c.106508T>A (p.Met35503Lys)
c.101906T>A (p.Met33969Lys)
c.101903T>A (p.Met33968Lys)
c.98945T>A (p.Met32982Lys)
c.80561T>A (p.Met26854Lys)
c.102056T>A (p.Met34019Lys)
c.102053T>A (p.Met34018Lys)
c.101486T>A (p.Met33829Lys)
c.98828T>A (p.Met32943Lys)
c.98747T>A (p.Met32916Lys)
c.80510T>A (p.Met26837Lys)
c.70364T>A (p.Met23455Lys)
2g.178527512T>ACA349399938TTN,TTN-AS1c.99910A>T (p.Met33304Leu)
c.80995A>T (p.Met26999Leu)
c.80794A>T (p.Met26932Leu)
c.80419A>T (p.Met26807Leu)
c.107614A>T (p.Met35872Leu)
c.102691A>T (p.Met34231Leu)
n.446+3876T>A
n.219+3876T>A
c.106711A>T (p.Met35571Leu)
c.80605A>T (p.Met26869Leu)
c.80464A>T (p.Met26822Leu)
c.106507A>T (p.Met35503Leu)
c.101905A>T (p.Met33969Leu)
c.101902A>T (p.Met33968Leu)
c.98944A>T (p.Met32982Leu)
c.80560A>T (p.Met26854Leu)
c.102055A>T (p.Met34019Leu)
c.102052A>T (p.Met34018Leu)
c.101485A>T (p.Met33829Leu)
c.98827A>T (p.Met32943Leu)
c.98746A>T (p.Met32916Leu)
c.80509A>T (p.Met26837Leu)
c.70363A>T (p.Met23455Leu)
2g.178527512T>CCA1984924TTN,TTN-AS1c.99910A>G (p.Met33304Val)
c.80995A>G (p.Met26999Val)
c.80794A>G (p.Met26932Val)
c.80419A>G (p.Met26807Val)
c.107614A>G (p.Met35872Val)
c.102691A>G (p.Met34231Val)
n.446+3876T>C
n.219+3876T>C
c.106711A>G (p.Met35571Val)
c.80605A>G (p.Met26869Val)
c.80464A>G (p.Met26822Val)
c.106507A>G (p.Met35503Val)
c.101905A>G (p.Met33969Val)
c.101902A>G (p.Met33968Val)
c.98944A>G (p.Met32982Val)
c.80560A>G (p.Met26854Val)
c.102055A>G (p.Met34019Val)
c.102052A>G (p.Met34018Val)
c.101485A>G (p.Met33829Val)
c.98827A>G (p.Met32943Val)
c.98746A>G (p.Met32916Val)
c.80509A>G (p.Met26837Val)
c.70363A>G (p.Met23455Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527512T>GCA349399940TTN,TTN-AS1c.99910A>C (p.Met33304Leu)
c.80995A>C (p.Met26999Leu)
c.80794A>C (p.Met26932Leu)
c.80419A>C (p.Met26807Leu)
c.107614A>C (p.Met35872Leu)
c.102691A>C (p.Met34231Leu)
n.446+3876T>G
n.219+3876T>G
c.106711A>C (p.Met35571Leu)
c.80605A>C (p.Met26869Leu)
c.80464A>C (p.Met26822Leu)
c.106507A>C (p.Met35503Leu)
c.101905A>C (p.Met33969Leu)
c.101902A>C (p.Met33968Leu)
c.98944A>C (p.Met32982Leu)
c.80560A>C (p.Met26854Leu)
c.102055A>C (p.Met34019Leu)
c.102052A>C (p.Met34018Leu)
c.101485A>C (p.Met33829Leu)
c.98827A>C (p.Met32943Leu)
c.98746A>C (p.Met32916Leu)
c.80509A>C (p.Met26837Leu)
c.70363A>C (p.Met23455Leu)
2g.178527512T=CA1310508145TTN,TTN-AS1c.99910A= (p.Met33304=)
c.80995A= (p.Met26999=)
c.80794A= (p.Met26932=)
c.80419A= (p.Met26807=)
c.107614A= (p.Met35872=)
c.102691A= (p.Met34231=)
n.446+3876T=
n.219+3876T=
c.106711A= (p.Met35571=)
c.80605A= (p.Met26869=)
c.80464A= (p.Met26822=)
c.106507A= (p.Met35503=)
c.101905A= (p.Met33969=)
c.101902A= (p.Met33968=)
c.98944A= (p.Met32982=)
c.80560A= (p.Met26854=)
c.102055A= (p.Met34019=)
c.102052A= (p.Met34018=)
c.101485A= (p.Met33829=)
c.98827A= (p.Met32943=)
c.98746A= (p.Met32916=)
c.80509A= (p.Met26837=)
c.70363A= (p.Met23455=)
2g.178527513A>CCA349399942TTN,TTN-AS1c.99909T>G (p.Phe33303Leu)
c.80994T>G (p.Phe26998Leu)
c.80793T>G (p.Phe26931Leu)
c.80418T>G (p.Phe26806Leu)
c.107613T>G (p.Phe35871Leu)
c.102690T>G (p.Phe34230Leu)
n.446+3877A>C
n.219+3877A>C
c.106710T>G (p.Phe35570Leu)
c.80604T>G (p.Phe26868Leu)
c.80463T>G (p.Phe26821Leu)
c.106506T>G (p.Phe35502Leu)
c.101904T>G (p.Phe33968Leu)
c.101901T>G (p.Phe33967Leu)
c.98943T>G (p.Phe32981Leu)
c.80559T>G (p.Phe26853Leu)
c.102054T>G (p.Phe34018Leu)
c.102051T>G (p.Phe34017Leu)
c.101484T>G (p.Phe33828Leu)
c.98826T>G (p.Phe32942Leu)
c.98745T>G (p.Phe32915Leu)
c.80508T>G (p.Phe26836Leu)
c.70362T>G (p.Phe23454Leu)
2g.178527513A>GCA430234248TTN,TTN-AS1c.99909T>C (p.Phe33303=)
c.80994T>C (p.Phe26998=)
c.80793T>C (p.Phe26931=)
c.80418T>C (p.Phe26806=)
c.107613T>C (p.Phe35871=)
c.102690T>C (p.Phe34230=)
n.446+3877A>G
n.219+3877A>G
c.106710T>C (p.Phe35570=)
c.80604T>C (p.Phe26868=)
c.80463T>C (p.Phe26821=)
c.106506T>C (p.Phe35502=)
c.101904T>C (p.Phe33968=)
c.101901T>C (p.Phe33967=)
c.98943T>C (p.Phe32981=)
c.80559T>C (p.Phe26853=)
c.102054T>C (p.Phe34018=)
c.102051T>C (p.Phe34017=)
c.101484T>C (p.Phe33828=)
c.98826T>C (p.Phe32942=)
c.98745T>C (p.Phe32915=)
c.80508T>C (p.Phe26836=)
c.70362T>C (p.Phe23454=)
2g.178527513A>TCA349399944TTN,TTN-AS1c.99909T>A (p.Phe33303Leu)
c.80994T>A (p.Phe26998Leu)
c.80793T>A (p.Phe26931Leu)
c.80418T>A (p.Phe26806Leu)
c.107613T>A (p.Phe35871Leu)
c.102690T>A (p.Phe34230Leu)
n.446+3877A>T
n.219+3877A>T
c.106710T>A (p.Phe35570Leu)
c.80604T>A (p.Phe26868Leu)
c.80463T>A (p.Phe26821Leu)
c.106506T>A (p.Phe35502Leu)
c.101904T>A (p.Phe33968Leu)
c.101901T>A (p.Phe33967Leu)
c.98943T>A (p.Phe32981Leu)
c.80559T>A (p.Phe26853Leu)
c.102054T>A (p.Phe34018Leu)
c.102051T>A (p.Phe34017Leu)
c.101484T>A (p.Phe33828Leu)
c.98826T>A (p.Phe32942Leu)
c.98745T>A (p.Phe32915Leu)
c.80508T>A (p.Phe26836Leu)
c.70362T>A (p.Phe23454Leu)
2g.178527514A>CCA349399946TTN,TTN-AS1c.99908T>G (p.Phe33303Cys)
c.80993T>G (p.Phe26998Cys)
c.80792T>G (p.Phe26931Cys)
c.80417T>G (p.Phe26806Cys)
c.107612T>G (p.Phe35871Cys)
c.102689T>G (p.Phe34230Cys)
n.446+3878A>C
n.219+3878A>C
c.106709T>G (p.Phe35570Cys)
c.80603T>G (p.Phe26868Cys)
c.80462T>G (p.Phe26821Cys)
c.106505T>G (p.Phe35502Cys)
c.101903T>G (p.Phe33968Cys)
c.101900T>G (p.Phe33967Cys)
c.98942T>G (p.Phe32981Cys)
c.80558T>G (p.Phe26853Cys)
c.102053T>G (p.Phe34018Cys)
c.102050T>G (p.Phe34017Cys)
c.101483T>G (p.Phe33828Cys)
c.98825T>G (p.Phe32942Cys)
c.98744T>G (p.Phe32915Cys)
c.80507T>G (p.Phe26836Cys)
c.70361T>G (p.Phe23454Cys)
2g.178527514A>GCA349399948TTN,TTN-AS1c.99908T>C (p.Phe33303Ser)
c.80993T>C (p.Phe26998Ser)
c.80792T>C (p.Phe26931Ser)
c.80417T>C (p.Phe26806Ser)
c.107612T>C (p.Phe35871Ser)
c.102689T>C (p.Phe34230Ser)
n.446+3878A>G
n.219+3878A>G
c.106709T>C (p.Phe35570Ser)
c.80603T>C (p.Phe26868Ser)
c.80462T>C (p.Phe26821Ser)
c.106505T>C (p.Phe35502Ser)
c.101903T>C (p.Phe33968Ser)
c.101900T>C (p.Phe33967Ser)
c.98942T>C (p.Phe32981Ser)
c.80558T>C (p.Phe26853Ser)
c.102053T>C (p.Phe34018Ser)
c.102050T>C (p.Phe34017Ser)
c.101483T>C (p.Phe33828Ser)
c.98825T>C (p.Phe32942Ser)
c.98744T>C (p.Phe32915Ser)
c.80507T>C (p.Phe26836Ser)
c.70361T>C (p.Phe23454Ser)
2g.178527514A>TCA349399949TTN,TTN-AS1c.99908T>A (p.Phe33303Tyr)
c.80993T>A (p.Phe26998Tyr)
c.80792T>A (p.Phe26931Tyr)
c.80417T>A (p.Phe26806Tyr)
c.107612T>A (p.Phe35871Tyr)
c.102689T>A (p.Phe34230Tyr)
n.446+3878A>T
n.219+3878A>T
c.106709T>A (p.Phe35570Tyr)
c.80603T>A (p.Phe26868Tyr)
c.80462T>A (p.Phe26821Tyr)
c.106505T>A (p.Phe35502Tyr)
c.101903T>A (p.Phe33968Tyr)
c.101900T>A (p.Phe33967Tyr)
c.98942T>A (p.Phe32981Tyr)
c.80558T>A (p.Phe26853Tyr)
c.102053T>A (p.Phe34018Tyr)
c.102050T>A (p.Phe34017Tyr)
c.101483T>A (p.Phe33828Tyr)
c.98825T>A (p.Phe32942Tyr)
c.98744T>A (p.Phe32915Tyr)
c.80507T>A (p.Phe26836Tyr)
c.70361T>A (p.Phe23454Tyr)
2g.178527515A>CCA349399951TTN,TTN-AS1c.99907T>G (p.Phe33303Val)
c.80992T>G (p.Phe26998Val)
c.80791T>G (p.Phe26931Val)
c.80416T>G (p.Phe26806Val)
c.107611T>G (p.Phe35871Val)
c.102688T>G (p.Phe34230Val)
n.446+3879A>C
n.219+3879A>C
c.106708T>G (p.Phe35570Val)
c.80602T>G (p.Phe26868Val)
c.80461T>G (p.Phe26821Val)
c.106504T>G (p.Phe35502Val)
c.101902T>G (p.Phe33968Val)
c.101899T>G (p.Phe33967Val)
c.98941T>G (p.Phe32981Val)
c.80557T>G (p.Phe26853Val)
c.102052T>G (p.Phe34018Val)
c.102049T>G (p.Phe34017Val)
c.101482T>G (p.Phe33828Val)
c.98824T>G (p.Phe32942Val)
c.98743T>G (p.Phe32915Val)
c.80506T>G (p.Phe26836Val)
c.70360T>G (p.Phe23454Val)
2g.178527515A>GCA349399952TTN,TTN-AS1c.99907T>C (p.Phe33303Leu)
c.80992T>C (p.Phe26998Leu)
c.80791T>C (p.Phe26931Leu)
c.80416T>C (p.Phe26806Leu)
c.107611T>C (p.Phe35871Leu)
c.102688T>C (p.Phe34230Leu)
n.446+3879A>G
n.219+3879A>G
c.106708T>C (p.Phe35570Leu)
c.80602T>C (p.Phe26868Leu)
c.80461T>C (p.Phe26821Leu)
c.106504T>C (p.Phe35502Leu)
c.101902T>C (p.Phe33968Leu)
c.101899T>C (p.Phe33967Leu)
c.98941T>C (p.Phe32981Leu)
c.80557T>C (p.Phe26853Leu)
c.102052T>C (p.Phe34018Leu)
c.102049T>C (p.Phe34017Leu)
c.101482T>C (p.Phe33828Leu)
c.98824T>C (p.Phe32942Leu)
c.98743T>C (p.Phe32915Leu)
c.80506T>C (p.Phe26836Leu)
c.70360T>C (p.Phe23454Leu)
2g.178527515A>TCA349399954TTN,TTN-AS1c.99907T>A (p.Phe33303Ile)
c.80992T>A (p.Phe26998Ile)
c.80791T>A (p.Phe26931Ile)
c.80416T>A (p.Phe26806Ile)
c.107611T>A (p.Phe35871Ile)
c.102688T>A (p.Phe34230Ile)
n.446+3879A>T
n.219+3879A>T
c.106708T>A (p.Phe35570Ile)
c.80602T>A (p.Phe26868Ile)
c.80461T>A (p.Phe26821Ile)
c.106504T>A (p.Phe35502Ile)
c.101902T>A (p.Phe33968Ile)
c.101899T>A (p.Phe33967Ile)
c.98941T>A (p.Phe32981Ile)
c.80557T>A (p.Phe26853Ile)
c.102052T>A (p.Phe34018Ile)
c.102049T>A (p.Phe34017Ile)
c.101482T>A (p.Phe33828Ile)
c.98824T>A (p.Phe32942Ile)
c.98743T>A (p.Phe32915Ile)
c.80506T>A (p.Phe26836Ile)
c.70360T>A (p.Phe23454Ile)
2g.178527516G>ACA430234253TTN,TTN-AS1c.99906C>T (p.Ser33302=)
c.80991C>T (p.Ser26997=)
c.80790C>T (p.Ser26930=)
c.80415C>T (p.Ser26805=)
c.107610C>T (p.Ser35870=)
c.102687C>T (p.Ser34229=)
n.446+3880G>A
n.219+3880G>A
c.106707C>T (p.Ser35569=)
c.80601C>T (p.Ser26867=)
c.80460C>T (p.Ser26820=)
c.106503C>T (p.Ser35501=)
c.101901C>T (p.Ser33967=)
c.101898C>T (p.Ser33966=)
c.98940C>T (p.Ser32980=)
c.80556C>T (p.Ser26852=)
c.102051C>T (p.Ser34017=)
c.102048C>T (p.Ser34016=)
c.101481C>T (p.Ser33827=)
c.98823C>T (p.Ser32941=)
c.98742C>T (p.Ser32914=)
c.80505C>T (p.Ser26835=)
c.70359C>T (p.Ser23453=)
 dbSNP
2g.178527516G>CCA349399956TTN,TTN-AS1c.99906C>G (p.Ser33302Arg)
c.80991C>G (p.Ser26997Arg)
c.80790C>G (p.Ser26930Arg)
c.80415C>G (p.Ser26805Arg)
c.107610C>G (p.Ser35870Arg)
c.102687C>G (p.Ser34229Arg)
n.446+3880G>C
n.219+3880G>C
c.106707C>G (p.Ser35569Arg)
c.80601C>G (p.Ser26867Arg)
c.80460C>G (p.Ser26820Arg)
c.106503C>G (p.Ser35501Arg)
c.101901C>G (p.Ser33967Arg)
c.101898C>G (p.Ser33966Arg)
c.98940C>G (p.Ser32980Arg)
c.80556C>G (p.Ser26852Arg)
c.102051C>G (p.Ser34017Arg)
c.102048C>G (p.Ser34016Arg)
c.101481C>G (p.Ser33827Arg)
c.98823C>G (p.Ser32941Arg)
c.98742C>G (p.Ser32914Arg)
c.80505C>G (p.Ser26835Arg)
c.70359C>G (p.Ser23453Arg)
2g.178527516G=CA1310508149TTN,TTN-AS1c.99906C= (p.Ser33302=)
c.80991C= (p.Ser26997=)
c.80790C= (p.Ser26930=)
c.80415C= (p.Ser26805=)
c.107610C= (p.Ser35870=)
c.102687C= (p.Ser34229=)
n.446+3880G=
n.219+3880G=
c.106707C= (p.Ser35569=)
c.80601C= (p.Ser26867=)
c.80460C= (p.Ser26820=)
c.106503C= (p.Ser35501=)
c.101901C= (p.Ser33967=)
c.101898C= (p.Ser33966=)
c.98940C= (p.Ser32980=)
c.80556C= (p.Ser26852=)
c.102051C= (p.Ser34017=)
c.102048C= (p.Ser34016=)
c.101481C= (p.Ser33827=)
c.98823C= (p.Ser32941=)
c.98742C= (p.Ser32914=)
c.80505C= (p.Ser26835=)
c.70359C= (p.Ser23453=)
2g.178527516G>TCA349399957TTN,TTN-AS1c.99906C>A (p.Ser33302Arg)
c.80991C>A (p.Ser26997Arg)
c.80790C>A (p.Ser26930Arg)
c.80415C>A (p.Ser26805Arg)
c.107610C>A (p.Ser35870Arg)
c.102687C>A (p.Ser34229Arg)
n.446+3880G>T
n.219+3880G>T
c.106707C>A (p.Ser35569Arg)
c.80601C>A (p.Ser26867Arg)
c.80460C>A (p.Ser26820Arg)
c.106503C>A (p.Ser35501Arg)
c.101901C>A (p.Ser33967Arg)
c.101898C>A (p.Ser33966Arg)
c.98940C>A (p.Ser32980Arg)
c.80556C>A (p.Ser26852Arg)
c.102051C>A (p.Ser34017Arg)
c.102048C>A (p.Ser34016Arg)
c.101481C>A (p.Ser33827Arg)
c.98823C>A (p.Ser32941Arg)
c.98742C>A (p.Ser32914Arg)
c.80505C>A (p.Ser26835Arg)
c.70359C>A (p.Ser23453Arg)
2g.178527517C>ACA349399961TTN,TTN-AS1c.99905G>T (p.Ser33302Ile)
c.80990G>T (p.Ser26997Ile)
c.80789G>T (p.Ser26930Ile)
c.80414G>T (p.Ser26805Ile)
c.107609G>T (p.Ser35870Ile)
c.102686G>T (p.Ser34229Ile)
n.446+3881C>A
n.219+3881C>A
c.106706G>T (p.Ser35569Ile)
c.80600G>T (p.Ser26867Ile)
c.80459G>T (p.Ser26820Ile)
c.106502G>T (p.Ser35501Ile)
c.101900G>T (p.Ser33967Ile)
c.101897G>T (p.Ser33966Ile)
c.98939G>T (p.Ser32980Ile)
c.80555G>T (p.Ser26852Ile)
c.102050G>T (p.Ser34017Ile)
c.102047G>T (p.Ser34016Ile)
c.101480G>T (p.Ser33827Ile)
c.98822G>T (p.Ser32941Ile)
c.98741G>T (p.Ser32914Ile)
c.80504G>T (p.Ser26835Ile)
c.70358G>T (p.Ser23453Ile)
2g.178527517C>GCA349399963TTN,TTN-AS1c.99905G>C (p.Ser33302Thr)
c.80990G>C (p.Ser26997Thr)
c.80789G>C (p.Ser26930Thr)
c.80414G>C (p.Ser26805Thr)
c.107609G>C (p.Ser35870Thr)
c.102686G>C (p.Ser34229Thr)
n.446+3881C>G
n.219+3881C>G
c.106706G>C (p.Ser35569Thr)
c.80600G>C (p.Ser26867Thr)
c.80459G>C (p.Ser26820Thr)
c.106502G>C (p.Ser35501Thr)
c.101900G>C (p.Ser33967Thr)
c.101897G>C (p.Ser33966Thr)
c.98939G>C (p.Ser32980Thr)
c.80555G>C (p.Ser26852Thr)
c.102050G>C (p.Ser34017Thr)
c.102047G>C (p.Ser34016Thr)
c.101480G>C (p.Ser33827Thr)
c.98822G>C (p.Ser32941Thr)
c.98741G>C (p.Ser32914Thr)
c.80504G>C (p.Ser26835Thr)
c.70358G>C (p.Ser23453Thr)
2g.178527517C>TCA349399959TTN,TTN-AS1c.99905G>A (p.Ser33302Asn)
c.80990G>A (p.Ser26997Asn)
c.80789G>A (p.Ser26930Asn)
c.80414G>A (p.Ser26805Asn)
c.107609G>A (p.Ser35870Asn)
c.102686G>A (p.Ser34229Asn)
n.446+3881C>T
n.219+3881C>T
c.106706G>A (p.Ser35569Asn)
c.80600G>A (p.Ser26867Asn)
c.80459G>A (p.Ser26820Asn)
c.106502G>A (p.Ser35501Asn)
c.101900G>A (p.Ser33967Asn)
c.101897G>A (p.Ser33966Asn)
c.98939G>A (p.Ser32980Asn)
c.80555G>A (p.Ser26852Asn)
c.102050G>A (p.Ser34017Asn)
c.102047G>A (p.Ser34016Asn)
c.101480G>A (p.Ser33827Asn)
c.98822G>A (p.Ser32941Asn)
c.98741G>A (p.Ser32914Asn)
c.80504G>A (p.Ser26835Asn)
c.70358G>A (p.Ser23453Asn)
2g.178527518T>ACA349399964TTN,TTN-AS1c.99904A>T (p.Ser33302Cys)
c.80989A>T (p.Ser26997Cys)
c.80788A>T (p.Ser26930Cys)
c.80413A>T (p.Ser26805Cys)
c.107608A>T (p.Ser35870Cys)
c.102685A>T (p.Ser34229Cys)
n.446+3882T>A
n.219+3882T>A
c.106705A>T (p.Ser35569Cys)
c.80599A>T (p.Ser26867Cys)
c.80458A>T (p.Ser26820Cys)
c.106501A>T (p.Ser35501Cys)
c.101899A>T (p.Ser33967Cys)
c.101896A>T (p.Ser33966Cys)
c.98938A>T (p.Ser32980Cys)
c.80554A>T (p.Ser26852Cys)
c.102049A>T (p.Ser34017Cys)
c.102046A>T (p.Ser34016Cys)
c.101479A>T (p.Ser33827Cys)
c.98821A>T (p.Ser32941Cys)
c.98740A>T (p.Ser32914Cys)
c.80503A>T (p.Ser26835Cys)
c.70357A>T (p.Ser23453Cys)
2g.178527518T>CCA349399966TTN,TTN-AS1c.99904A>G (p.Ser33302Gly)
c.80989A>G (p.Ser26997Gly)
c.80788A>G (p.Ser26930Gly)
c.80413A>G (p.Ser26805Gly)
c.107608A>G (p.Ser35870Gly)
c.102685A>G (p.Ser34229Gly)
n.446+3882T>C
n.219+3882T>C
c.106705A>G (p.Ser35569Gly)
c.80599A>G (p.Ser26867Gly)
c.80458A>G (p.Ser26820Gly)
c.106501A>G (p.Ser35501Gly)
c.101899A>G (p.Ser33967Gly)
c.101896A>G (p.Ser33966Gly)
c.98938A>G (p.Ser32980Gly)
c.80554A>G (p.Ser26852Gly)
c.102049A>G (p.Ser34017Gly)
c.102046A>G (p.Ser34016Gly)
c.101479A>G (p.Ser33827Gly)
c.98821A>G (p.Ser32941Gly)
c.98740A>G (p.Ser32914Gly)
c.80503A>G (p.Ser26835Gly)
c.70357A>G (p.Ser23453Gly)
2g.178527518T>GCA349399967TTN,TTN-AS1c.99904A>C (p.Ser33302Arg)
c.80989A>C (p.Ser26997Arg)
c.80788A>C (p.Ser26930Arg)
c.80413A>C (p.Ser26805Arg)
c.107608A>C (p.Ser35870Arg)
c.102685A>C (p.Ser34229Arg)
n.446+3882T>G
n.219+3882T>G
c.106705A>C (p.Ser35569Arg)
c.80599A>C (p.Ser26867Arg)
c.80458A>C (p.Ser26820Arg)
c.106501A>C (p.Ser35501Arg)
c.101899A>C (p.Ser33967Arg)
c.101896A>C (p.Ser33966Arg)
c.98938A>C (p.Ser32980Arg)
c.80554A>C (p.Ser26852Arg)
c.102049A>C (p.Ser34017Arg)
c.102046A>C (p.Ser34016Arg)
c.101479A>C (p.Ser33827Arg)
c.98821A>C (p.Ser32941Arg)
c.98740A>C (p.Ser32914Arg)
c.80503A>C (p.Ser26835Arg)
c.70357A>C (p.Ser23453Arg)
2g.178527519G>ACA430234258TTN,TTN-AS1c.99903C>T (p.Ser33301=)
c.80988C>T (p.Ser26996=)
c.80787C>T (p.Ser26929=)
c.80412C>T (p.Ser26804=)
c.107607C>T (p.Ser35869=)
c.102684C>T (p.Ser34228=)
n.446+3883G>A
n.219+3883G>A
c.106704C>T (p.Ser35568=)
c.80598C>T (p.Ser26866=)
c.80457C>T (p.Ser26819=)
c.106500C>T (p.Ser35500=)
c.101898C>T (p.Ser33966=)
c.101895C>T (p.Ser33965=)
c.98937C>T (p.Ser32979=)
c.80553C>T (p.Ser26851=)
c.102048C>T (p.Ser34016=)
c.102045C>T (p.Ser34015=)
c.101478C>T (p.Ser33826=)
c.98820C>T (p.Ser32940=)
c.98739C>T (p.Ser32913=)
c.80502C>T (p.Ser26834=)
c.70356C>T (p.Ser23452=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527519G>CCA349399969TTN,TTN-AS1c.99903C>G (p.Ser33301Arg)
c.80988C>G (p.Ser26996Arg)
c.80787C>G (p.Ser26929Arg)
c.80412C>G (p.Ser26804Arg)
c.107607C>G (p.Ser35869Arg)
c.102684C>G (p.Ser34228Arg)
n.446+3883G>C
n.219+3883G>C
c.106704C>G (p.Ser35568Arg)
c.80598C>G (p.Ser26866Arg)
c.80457C>G (p.Ser26819Arg)
c.106500C>G (p.Ser35500Arg)
c.101898C>G (p.Ser33966Arg)
c.101895C>G (p.Ser33965Arg)
c.98937C>G (p.Ser32979Arg)
c.80553C>G (p.Ser26851Arg)
c.102048C>G (p.Ser34016Arg)
c.102045C>G (p.Ser34015Arg)
c.101478C>G (p.Ser33826Arg)
c.98820C>G (p.Ser32940Arg)
c.98739C>G (p.Ser32913Arg)
c.80502C>G (p.Ser26834Arg)
c.70356C>G (p.Ser23452Arg)
2g.178527519G=CA1310508151TTN,TTN-AS1c.99903C= (p.Ser33301=)
c.80988C= (p.Ser26996=)
c.80787C= (p.Ser26929=)
c.80412C= (p.Ser26804=)
c.107607C= (p.Ser35869=)
c.102684C= (p.Ser34228=)
n.446+3883G=
n.219+3883G=
c.106704C= (p.Ser35568=)
c.80598C= (p.Ser26866=)
c.80457C= (p.Ser26819=)
c.106500C= (p.Ser35500=)
c.101898C= (p.Ser33966=)
c.101895C= (p.Ser33965=)
c.98937C= (p.Ser32979=)
c.80553C= (p.Ser26851=)
c.102048C= (p.Ser34016=)
c.102045C= (p.Ser34015=)
c.101478C= (p.Ser33826=)
c.98820C= (p.Ser32940=)
c.98739C= (p.Ser32913=)
c.80502C= (p.Ser26834=)
c.70356C= (p.Ser23452=)
2g.178527519G>TCA349399971TTN,TTN-AS1c.99903C>A (p.Ser33301Arg)
c.80988C>A (p.Ser26996Arg)
c.80787C>A (p.Ser26929Arg)
c.80412C>A (p.Ser26804Arg)
c.107607C>A (p.Ser35869Arg)
c.102684C>A (p.Ser34228Arg)
n.446+3883G>T
n.219+3883G>T
c.106704C>A (p.Ser35568Arg)
c.80598C>A (p.Ser26866Arg)
c.80457C>A (p.Ser26819Arg)
c.106500C>A (p.Ser35500Arg)
c.101898C>A (p.Ser33966Arg)
c.101895C>A (p.Ser33965Arg)
c.98937C>A (p.Ser32979Arg)
c.80553C>A (p.Ser26851Arg)
c.102048C>A (p.Ser34016Arg)
c.102045C>A (p.Ser34015Arg)
c.101478C>A (p.Ser33826Arg)
c.98820C>A (p.Ser32940Arg)
c.98739C>A (p.Ser32913Arg)
c.80502C>A (p.Ser26834Arg)
c.70356C>A (p.Ser23452Arg)
2g.178527520C>ACA349399975TTN,TTN-AS1c.99902G>T (p.Ser33301Ile)
c.80987G>T (p.Ser26996Ile)
c.80786G>T (p.Ser26929Ile)
c.80411G>T (p.Ser26804Ile)
c.107606G>T (p.Ser35869Ile)
c.102683G>T (p.Ser34228Ile)
n.446+3884C>A
n.219+3884C>A
c.106703G>T (p.Ser35568Ile)
c.80597G>T (p.Ser26866Ile)
c.80456G>T (p.Ser26819Ile)
c.106499G>T (p.Ser35500Ile)
c.101897G>T (p.Ser33966Ile)
c.101894G>T (p.Ser33965Ile)
c.98936G>T (p.Ser32979Ile)
c.80552G>T (p.Ser26851Ile)
c.102047G>T (p.Ser34016Ile)
c.102044G>T (p.Ser34015Ile)
c.101477G>T (p.Ser33826Ile)
c.98819G>T (p.Ser32940Ile)
c.98738G>T (p.Ser32913Ile)
c.80501G>T (p.Ser26834Ile)
c.70355G>T (p.Ser23452Ile)
2g.178527520C>GCA349399974TTN,TTN-AS1c.99902G>C (p.Ser33301Thr)
c.80987G>C (p.Ser26996Thr)
c.80786G>C (p.Ser26929Thr)
c.80411G>C (p.Ser26804Thr)
c.107606G>C (p.Ser35869Thr)
c.102683G>C (p.Ser34228Thr)
n.446+3884C>G
n.219+3884C>G
c.106703G>C (p.Ser35568Thr)
c.80597G>C (p.Ser26866Thr)
c.80456G>C (p.Ser26819Thr)
c.106499G>C (p.Ser35500Thr)
c.101897G>C (p.Ser33966Thr)
c.101894G>C (p.Ser33965Thr)
c.98936G>C (p.Ser32979Thr)
c.80552G>C (p.Ser26851Thr)
c.102047G>C (p.Ser34016Thr)
c.102044G>C (p.Ser34015Thr)
c.101477G>C (p.Ser33826Thr)
c.98819G>C (p.Ser32940Thr)
c.98738G>C (p.Ser32913Thr)
c.80501G>C (p.Ser26834Thr)
c.70355G>C (p.Ser23452Thr)
2g.178527520C>TCA349399972TTN,TTN-AS1c.99902G>A (p.Ser33301Asn)
c.80987G>A (p.Ser26996Asn)
c.80786G>A (p.Ser26929Asn)
c.80411G>A (p.Ser26804Asn)
c.107606G>A (p.Ser35869Asn)
c.102683G>A (p.Ser34228Asn)
n.446+3884C>T
n.219+3884C>T
c.106703G>A (p.Ser35568Asn)
c.80597G>A (p.Ser26866Asn)
c.80456G>A (p.Ser26819Asn)
c.106499G>A (p.Ser35500Asn)
c.101897G>A (p.Ser33966Asn)
c.101894G>A (p.Ser33965Asn)
c.98936G>A (p.Ser32979Asn)
c.80552G>A (p.Ser26851Asn)
c.102047G>A (p.Ser34016Asn)
c.102044G>A (p.Ser34015Asn)
c.101477G>A (p.Ser33826Asn)
c.98819G>A (p.Ser32940Asn)
c.98738G>A (p.Ser32913Asn)
c.80501G>A (p.Ser26834Asn)
c.70355G>A (p.Ser23452Asn)
2g.178527521T>ACA349399977TTN,TTN-AS1c.99901A>T (p.Ser33301Cys)
c.80986A>T (p.Ser26996Cys)
c.80785A>T (p.Ser26929Cys)
c.80410A>T (p.Ser26804Cys)
c.107605A>T (p.Ser35869Cys)
c.102682A>T (p.Ser34228Cys)
n.446+3885T>A
n.219+3885T>A
c.106702A>T (p.Ser35568Cys)
c.80596A>T (p.Ser26866Cys)
c.80455A>T (p.Ser26819Cys)
c.106498A>T (p.Ser35500Cys)
c.101896A>T (p.Ser33966Cys)
c.101893A>T (p.Ser33965Cys)
c.98935A>T (p.Ser32979Cys)
c.80551A>T (p.Ser26851Cys)
c.102046A>T (p.Ser34016Cys)
c.102043A>T (p.Ser34015Cys)
c.101476A>T (p.Ser33826Cys)
c.98818A>T (p.Ser32940Cys)
c.98737A>T (p.Ser32913Cys)
c.80500A>T (p.Ser26834Cys)
c.70354A>T (p.Ser23452Cys)
2g.178527521T>CCA141780TTN,TTN-AS1c.99901A>G (p.Ser33301Gly)
c.80986A>G (p.Ser26996Gly)
c.80785A>G (p.Ser26929Gly)
c.80410A>G (p.Ser26804Gly)
c.107605A>G (p.Ser35869Gly)
c.102682A>G (p.Ser34228Gly)
n.446+3885T>C
n.219+3885T>C
c.106702A>G (p.Ser35568Gly)
c.80596A>G (p.Ser26866Gly)
c.80455A>G (p.Ser26819Gly)
c.106498A>G (p.Ser35500Gly)
c.101896A>G (p.Ser33966Gly)
c.101893A>G (p.Ser33965Gly)
c.98935A>G (p.Ser32979Gly)
c.80551A>G (p.Ser26851Gly)
c.102046A>G (p.Ser34016Gly)
c.102043A>G (p.Ser34015Gly)
c.101476A>G (p.Ser33826Gly)
c.98818A>G (p.Ser32940Gly)
c.98737A>G (p.Ser32913Gly)
c.80500A>G (p.Ser26834Gly)
c.70354A>G (p.Ser23452Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527521T>GCA349399979TTN,TTN-AS1c.99901A>C (p.Ser33301Arg)
c.80986A>C (p.Ser26996Arg)
c.80785A>C (p.Ser26929Arg)
c.80410A>C (p.Ser26804Arg)
c.107605A>C (p.Ser35869Arg)
c.102682A>C (p.Ser34228Arg)
n.446+3885T>G
n.219+3885T>G
c.106702A>C (p.Ser35568Arg)
c.80596A>C (p.Ser26866Arg)
c.80455A>C (p.Ser26819Arg)
c.106498A>C (p.Ser35500Arg)
c.101896A>C (p.Ser33966Arg)
c.101893A>C (p.Ser33965Arg)
c.98935A>C (p.Ser32979Arg)
c.80551A>C (p.Ser26851Arg)
c.102046A>C (p.Ser34016Arg)
c.102043A>C (p.Ser34015Arg)
c.101476A>C (p.Ser33826Arg)
c.98818A>C (p.Ser32940Arg)
c.98737A>C (p.Ser32913Arg)
c.80500A>C (p.Ser26834Arg)
c.70354A>C (p.Ser23452Arg)
2g.178527521T=CA1310508158TTN,TTN-AS1c.99901A= (p.Ser33301=)
c.80986A= (p.Ser26996=)
c.80785A= (p.Ser26929=)
c.80410A= (p.Ser26804=)
c.107605A= (p.Ser35869=)
c.102682A= (p.Ser34228=)
n.446+3885T=
n.219+3885T=
c.106702A= (p.Ser35568=)
c.80596A= (p.Ser26866=)
c.80455A= (p.Ser26819=)
c.106498A= (p.Ser35500=)
c.101896A= (p.Ser33966=)
c.101893A= (p.Ser33965=)
c.98935A= (p.Ser32979=)
c.80551A= (p.Ser26851=)
c.102046A= (p.Ser34016=)
c.102043A= (p.Ser34015=)
c.101476A= (p.Ser33826=)
c.98818A= (p.Ser32940=)
c.98737A= (p.Ser32913=)
c.80500A= (p.Ser26834=)
c.70354A= (p.Ser23452=)
2g.178527522G>ACA430234269TTN,TTN-AS1c.99900C>T (p.Ser33300=)
c.80985C>T (p.Ser26995=)
c.80784C>T (p.Ser26928=)
c.80409C>T (p.Ser26803=)
c.107604C>T (p.Ser35868=)
c.102681C>T (p.Ser34227=)
n.446+3886G>A
n.219+3886G>A
c.106701C>T (p.Ser35567=)
c.80595C>T (p.Ser26865=)
c.80454C>T (p.Ser26818=)
c.106497C>T (p.Ser35499=)
c.101895C>T (p.Ser33965=)
c.101892C>T (p.Ser33964=)
c.98934C>T (p.Ser32978=)
c.80550C>T (p.Ser26850=)
c.102045C>T (p.Ser34015=)
c.102042C>T (p.Ser34014=)
c.101475C>T (p.Ser33825=)
c.98817C>T (p.Ser32939=)
c.98736C>T (p.Ser32912=)
c.80499C>T (p.Ser26833=)
c.70353C>T (p.Ser23451=)
2g.178527522G>CCA430234271TTN,TTN-AS1c.99900C>G (p.Ser33300=)
c.80985C>G (p.Ser26995=)
c.80784C>G (p.Ser26928=)
c.80409C>G (p.Ser26803=)
c.107604C>G (p.Ser35868=)
c.102681C>G (p.Ser34227=)
n.446+3886G>C
n.219+3886G>C
c.106701C>G (p.Ser35567=)
c.80595C>G (p.Ser26865=)
c.80454C>G (p.Ser26818=)
c.106497C>G (p.Ser35499=)
c.101895C>G (p.Ser33965=)
c.101892C>G (p.Ser33964=)
c.98934C>G (p.Ser32978=)
c.80550C>G (p.Ser26850=)
c.102045C>G (p.Ser34015=)
c.102042C>G (p.Ser34014=)
c.101475C>G (p.Ser33825=)
c.98817C>G (p.Ser32939=)
c.98736C>G (p.Ser32912=)
c.80499C>G (p.Ser26833=)
c.70353C>G (p.Ser23451=)
2g.178527522G>TCA430234273TTN,TTN-AS1c.99900C>A (p.Ser33300=)
c.80985C>A (p.Ser26995=)
c.80784C>A (p.Ser26928=)
c.80409C>A (p.Ser26803=)
c.107604C>A (p.Ser35868=)
c.102681C>A (p.Ser34227=)
n.446+3886G>T
n.219+3886G>T
c.106701C>A (p.Ser35567=)
c.80595C>A (p.Ser26865=)
c.80454C>A (p.Ser26818=)
c.106497C>A (p.Ser35499=)
c.101895C>A (p.Ser33965=)
c.101892C>A (p.Ser33964=)
c.98934C>A (p.Ser32978=)
c.80550C>A (p.Ser26850=)
c.102045C>A (p.Ser34015=)
c.102042C>A (p.Ser34014=)
c.101475C>A (p.Ser33825=)
c.98817C>A (p.Ser32939=)
c.98736C>A (p.Ser32912=)
c.80499C>A (p.Ser26833=)
c.70353C>A (p.Ser23451=)
2g.178527523G>ACA349399981TTN,TTN-AS1c.99899C>T (p.Ser33300Phe)
c.80984C>T (p.Ser26995Phe)
c.80783C>T (p.Ser26928Phe)
c.80408C>T (p.Ser26803Phe)
c.107603C>T (p.Ser35868Phe)
c.102680C>T (p.Ser34227Phe)
n.446+3887G>A
n.219+3887G>A
c.106700C>T (p.Ser35567Phe)
c.80594C>T (p.Ser26865Phe)
c.80453C>T (p.Ser26818Phe)
c.106496C>T (p.Ser35499Phe)
c.101894C>T (p.Ser33965Phe)
c.101891C>T (p.Ser33964Phe)
c.98933C>T (p.Ser32978Phe)
c.80549C>T (p.Ser26850Phe)
c.102044C>T (p.Ser34015Phe)
c.102041C>T (p.Ser34014Phe)
c.101474C>T (p.Ser33825Phe)
c.98816C>T (p.Ser32939Phe)
c.98735C>T (p.Ser32912Phe)
c.80498C>T (p.Ser26833Phe)
c.70352C>T (p.Ser23451Phe)
2g.178527523G>CCA349399983TTN,TTN-AS1c.99899C>G (p.Ser33300Cys)
c.80984C>G (p.Ser26995Cys)
c.80783C>G (p.Ser26928Cys)
c.80408C>G (p.Ser26803Cys)
c.107603C>G (p.Ser35868Cys)
c.102680C>G (p.Ser34227Cys)
n.446+3887G>C
n.219+3887G>C
c.106700C>G (p.Ser35567Cys)
c.80594C>G (p.Ser26865Cys)
c.80453C>G (p.Ser26818Cys)
c.106496C>G (p.Ser35499Cys)
c.101894C>G (p.Ser33965Cys)
c.101891C>G (p.Ser33964Cys)
c.98933C>G (p.Ser32978Cys)
c.80549C>G (p.Ser26850Cys)
c.102044C>G (p.Ser34015Cys)
c.102041C>G (p.Ser34014Cys)
c.101474C>G (p.Ser33825Cys)
c.98816C>G (p.Ser32939Cys)
c.98735C>G (p.Ser32912Cys)
c.80498C>G (p.Ser26833Cys)
c.70352C>G (p.Ser23451Cys)
2g.178527523G>TCA349399984TTN,TTN-AS1c.99899C>A (p.Ser33300Tyr)
c.80984C>A (p.Ser26995Tyr)
c.80783C>A (p.Ser26928Tyr)
c.80408C>A (p.Ser26803Tyr)
c.107603C>A (p.Ser35868Tyr)
c.102680C>A (p.Ser34227Tyr)
n.446+3887G>T
n.219+3887G>T
c.106700C>A (p.Ser35567Tyr)
c.80594C>A (p.Ser26865Tyr)
c.80453C>A (p.Ser26818Tyr)
c.106496C>A (p.Ser35499Tyr)
c.101894C>A (p.Ser33965Tyr)
c.101891C>A (p.Ser33964Tyr)
c.98933C>A (p.Ser32978Tyr)
c.80549C>A (p.Ser26850Tyr)
c.102044C>A (p.Ser34015Tyr)
c.102041C>A (p.Ser34014Tyr)
c.101474C>A (p.Ser33825Tyr)
c.98816C>A (p.Ser32939Tyr)
c.98735C>A (p.Ser32912Tyr)
c.80498C>A (p.Ser26833Tyr)
c.70352C>A (p.Ser23451Tyr)
2g.178527524A>CCA349399988TTN,TTN-AS1c.99898T>G (p.Ser33300Ala)
c.80983T>G (p.Ser26995Ala)
c.80782T>G (p.Ser26928Ala)
c.80407T>G (p.Ser26803Ala)
c.107602T>G (p.Ser35868Ala)
c.102679T>G (p.Ser34227Ala)
n.446+3888A>C
n.219+3888A>C
c.106699T>G (p.Ser35567Ala)
c.80593T>G (p.Ser26865Ala)
c.80452T>G (p.Ser26818Ala)
c.106495T>G (p.Ser35499Ala)
c.101893T>G (p.Ser33965Ala)
c.101890T>G (p.Ser33964Ala)
c.98932T>G (p.Ser32978Ala)
c.80548T>G (p.Ser26850Ala)
c.102043T>G (p.Ser34015Ala)
c.102040T>G (p.Ser34014Ala)
c.101473T>G (p.Ser33825Ala)
c.98815T>G (p.Ser32939Ala)
c.98734T>G (p.Ser32912Ala)
c.80497T>G (p.Ser26833Ala)
c.70351T>G (p.Ser23451Ala)
2g.178527524A>GCA349399986TTN,TTN-AS1c.99898T>C (p.Ser33300Pro)
c.80983T>C (p.Ser26995Pro)
c.80782T>C (p.Ser26928Pro)
c.80407T>C (p.Ser26803Pro)
c.107602T>C (p.Ser35868Pro)
c.102679T>C (p.Ser34227Pro)
n.446+3888A>G
n.219+3888A>G
c.106699T>C (p.Ser35567Pro)
c.80593T>C (p.Ser26865Pro)
c.80452T>C (p.Ser26818Pro)
c.106495T>C (p.Ser35499Pro)
c.101893T>C (p.Ser33965Pro)
c.101890T>C (p.Ser33964Pro)
c.98932T>C (p.Ser32978Pro)
c.80548T>C (p.Ser26850Pro)
c.102043T>C (p.Ser34015Pro)
c.102040T>C (p.Ser34014Pro)
c.101473T>C (p.Ser33825Pro)
c.98815T>C (p.Ser32939Pro)
c.98734T>C (p.Ser32912Pro)
c.80497T>C (p.Ser26833Pro)
c.70351T>C (p.Ser23451Pro)
2g.178527524A>TCA349399987TTN,TTN-AS1c.99898T>A (p.Ser33300Thr)
c.80983T>A (p.Ser26995Thr)
c.80782T>A (p.Ser26928Thr)
c.80407T>A (p.Ser26803Thr)
c.107602T>A (p.Ser35868Thr)
c.102679T>A (p.Ser34227Thr)
n.446+3888A>T
n.219+3888A>T
c.106699T>A (p.Ser35567Thr)
c.80593T>A (p.Ser26865Thr)
c.80452T>A (p.Ser26818Thr)
c.106495T>A (p.Ser35499Thr)
c.101893T>A (p.Ser33965Thr)
c.101890T>A (p.Ser33964Thr)
c.98932T>A (p.Ser32978Thr)
c.80548T>A (p.Ser26850Thr)
c.102043T>A (p.Ser34015Thr)
c.102040T>A (p.Ser34014Thr)
c.101473T>A (p.Ser33825Thr)
c.98815T>A (p.Ser32939Thr)
c.98734T>A (p.Ser32912Thr)
c.80497T>A (p.Ser26833Thr)
c.70351T>A (p.Ser23451Thr)
2g.178527525A>CCA349399989TTN,TTN-AS1c.99897T>G (p.Ser33299Arg)
c.80982T>G (p.Ser26994Arg)
c.80781T>G (p.Ser26927Arg)
c.80406T>G (p.Ser26802Arg)
c.107601T>G (p.Ser35867Arg)
c.102678T>G (p.Ser34226Arg)
n.446+3889A>C
n.219+3889A>C
c.106698T>G (p.Ser35566Arg)
c.80592T>G (p.Ser26864Arg)
c.80451T>G (p.Ser26817Arg)
c.106494T>G (p.Ser35498Arg)
c.101892T>G (p.Ser33964Arg)
c.101889T>G (p.Ser33963Arg)
c.98931T>G (p.Ser32977Arg)
c.80547T>G (p.Ser26849Arg)
c.102042T>G (p.Ser34014Arg)
c.102039T>G (p.Ser34013Arg)
c.101472T>G (p.Ser33824Arg)
c.98814T>G (p.Ser32938Arg)
c.98733T>G (p.Ser32911Arg)
c.80496T>G (p.Ser26832Arg)
c.70350T>G (p.Ser23450Arg)
2g.178527525A>GCA430234279TTN,TTN-AS1c.99897T>C (p.Ser33299=)
c.80982T>C (p.Ser26994=)
c.80781T>C (p.Ser26927=)
c.80406T>C (p.Ser26802=)
c.107601T>C (p.Ser35867=)
c.102678T>C (p.Ser34226=)
n.446+3889A>G
n.219+3889A>G
c.106698T>C (p.Ser35566=)
c.80592T>C (p.Ser26864=)
c.80451T>C (p.Ser26817=)
c.106494T>C (p.Ser35498=)
c.101892T>C (p.Ser33964=)
c.101889T>C (p.Ser33963=)
c.98931T>C (p.Ser32977=)
c.80547T>C (p.Ser26849=)
c.102042T>C (p.Ser34014=)
c.102039T>C (p.Ser34013=)
c.101472T>C (p.Ser33824=)
c.98814T>C (p.Ser32938=)
c.98733T>C (p.Ser32911=)
c.80496T>C (p.Ser26832=)
c.70350T>C (p.Ser23450=)
2g.178527525A>TCA349399991TTN,TTN-AS1c.99897T>A (p.Ser33299Arg)
c.80982T>A (p.Ser26994Arg)
c.80781T>A (p.Ser26927Arg)
c.80406T>A (p.Ser26802Arg)
c.107601T>A (p.Ser35867Arg)
c.102678T>A (p.Ser34226Arg)
n.446+3889A>T
n.219+3889A>T
c.106698T>A (p.Ser35566Arg)
c.80592T>A (p.Ser26864Arg)
c.80451T>A (p.Ser26817Arg)
c.106494T>A (p.Ser35498Arg)
c.101892T>A (p.Ser33964Arg)
c.101889T>A (p.Ser33963Arg)
c.98931T>A (p.Ser32977Arg)
c.80547T>A (p.Ser26849Arg)
c.102042T>A (p.Ser34014Arg)
c.102039T>A (p.Ser34013Arg)
c.101472T>A (p.Ser33824Arg)
c.98814T>A (p.Ser32938Arg)
c.98733T>A (p.Ser32911Arg)
c.80496T>A (p.Ser26832Arg)
c.70350T>A (p.Ser23450Arg)
2g.178527526C>ACA349399992TTN,TTN-AS1c.99896G>T (p.Ser33299Ile)
c.80981G>T (p.Ser26994Ile)
c.80780G>T (p.Ser26927Ile)
c.80405G>T (p.Ser26802Ile)
c.107600G>T (p.Ser35867Ile)
c.102677G>T (p.Ser34226Ile)
n.446+3890C>A
n.219+3890C>A
c.106697G>T (p.Ser35566Ile)
c.80591G>T (p.Ser26864Ile)
c.80450G>T (p.Ser26817Ile)
c.106493G>T (p.Ser35498Ile)
c.101891G>T (p.Ser33964Ile)
c.101888G>T (p.Ser33963Ile)
c.98930G>T (p.Ser32977Ile)
c.80546G>T (p.Ser26849Ile)
c.102041G>T (p.Ser34014Ile)
c.102038G>T (p.Ser34013Ile)
c.101471G>T (p.Ser33824Ile)
c.98813G>T (p.Ser32938Ile)
c.98732G>T (p.Ser32911Ile)
c.80495G>T (p.Ser26832Ile)
c.70349G>T (p.Ser23450Ile)
2g.178527526C>GCA349399993TTN,TTN-AS1c.99896G>C (p.Ser33299Thr)
c.80981G>C (p.Ser26994Thr)
c.80780G>C (p.Ser26927Thr)
c.80405G>C (p.Ser26802Thr)
c.107600G>C (p.Ser35867Thr)
c.102677G>C (p.Ser34226Thr)
n.446+3890C>G
n.219+3890C>G
c.106697G>C (p.Ser35566Thr)
c.80591G>C (p.Ser26864Thr)
c.80450G>C (p.Ser26817Thr)
c.106493G>C (p.Ser35498Thr)
c.101891G>C (p.Ser33964Thr)
c.101888G>C (p.Ser33963Thr)
c.98930G>C (p.Ser32977Thr)
c.80546G>C (p.Ser26849Thr)
c.102041G>C (p.Ser34014Thr)
c.102038G>C (p.Ser34013Thr)
c.101471G>C (p.Ser33824Thr)
c.98813G>C (p.Ser32938Thr)
c.98732G>C (p.Ser32911Thr)
c.80495G>C (p.Ser26832Thr)
c.70349G>C (p.Ser23450Thr)
2g.178527526C>TCA349399995TTN,TTN-AS1c.99896G>A (p.Ser33299Asn)
c.80981G>A (p.Ser26994Asn)
c.80780G>A (p.Ser26927Asn)
c.80405G>A (p.Ser26802Asn)
c.107600G>A (p.Ser35867Asn)
c.102677G>A (p.Ser34226Asn)
n.446+3890C>T
n.219+3890C>T
c.106697G>A (p.Ser35566Asn)
c.80591G>A (p.Ser26864Asn)
c.80450G>A (p.Ser26817Asn)
c.106493G>A (p.Ser35498Asn)
c.101891G>A (p.Ser33964Asn)
c.101888G>A (p.Ser33963Asn)
c.98930G>A (p.Ser32977Asn)
c.80546G>A (p.Ser26849Asn)
c.102041G>A (p.Ser34014Asn)
c.102038G>A (p.Ser34013Asn)
c.101471G>A (p.Ser33824Asn)
c.98813G>A (p.Ser32938Asn)
c.98732G>A (p.Ser32911Asn)
c.80495G>A (p.Ser26832Asn)
c.70349G>A (p.Ser23450Asn)
2g.178527527T>ACA349399999TTN,TTN-AS1c.99895A>T (p.Ser33299Cys)
c.80980A>T (p.Ser26994Cys)
c.80779A>T (p.Ser26927Cys)
c.80404A>T (p.Ser26802Cys)
c.107599A>T (p.Ser35867Cys)
c.102676A>T (p.Ser34226Cys)
n.446+3891T>A
n.219+3891T>A
c.106696A>T (p.Ser35566Cys)
c.80590A>T (p.Ser26864Cys)
c.80449A>T (p.Ser26817Cys)
c.106492A>T (p.Ser35498Cys)
c.101890A>T (p.Ser33964Cys)
c.101887A>T (p.Ser33963Cys)
c.98929A>T (p.Ser32977Cys)
c.80545A>T (p.Ser26849Cys)
c.102040A>T (p.Ser34014Cys)
c.102037A>T (p.Ser34013Cys)
c.101470A>T (p.Ser33824Cys)
c.98812A>T (p.Ser32938Cys)
c.98731A>T (p.Ser32911Cys)
c.80494A>T (p.Ser26832Cys)
c.70348A>T (p.Ser23450Cys)
2g.178527527T>CCA349399998TTN,TTN-AS1c.99895A>G (p.Ser33299Gly)
c.80980A>G (p.Ser26994Gly)
c.80779A>G (p.Ser26927Gly)
c.80404A>G (p.Ser26802Gly)
c.107599A>G (p.Ser35867Gly)
c.102676A>G (p.Ser34226Gly)
n.446+3891T>C
n.219+3891T>C
c.106696A>G (p.Ser35566Gly)
c.80590A>G (p.Ser26864Gly)
c.80449A>G (p.Ser26817Gly)
c.106492A>G (p.Ser35498Gly)
c.101890A>G (p.Ser33964Gly)
c.101887A>G (p.Ser33963Gly)
c.98929A>G (p.Ser32977Gly)
c.80545A>G (p.Ser26849Gly)
c.102040A>G (p.Ser34014Gly)
c.102037A>G (p.Ser34013Gly)
c.101470A>G (p.Ser33824Gly)
c.98812A>G (p.Ser32938Gly)
c.98731A>G (p.Ser32911Gly)
c.80494A>G (p.Ser26832Gly)
c.70348A>G (p.Ser23450Gly)
2g.178527527T>GCA349399997TTN,TTN-AS1c.99895A>C (p.Ser33299Arg)
c.80980A>C (p.Ser26994Arg)
c.80779A>C (p.Ser26927Arg)
c.80404A>C (p.Ser26802Arg)
c.107599A>C (p.Ser35867Arg)
c.102676A>C (p.Ser34226Arg)
n.446+3891T>G
n.219+3891T>G
c.106696A>C (p.Ser35566Arg)
c.80590A>C (p.Ser26864Arg)
c.80449A>C (p.Ser26817Arg)
c.106492A>C (p.Ser35498Arg)
c.101890A>C (p.Ser33964Arg)
c.101887A>C (p.Ser33963Arg)
c.98929A>C (p.Ser32977Arg)
c.80545A>C (p.Ser26849Arg)
c.102040A>C (p.Ser34014Arg)
c.102037A>C (p.Ser34013Arg)
c.101470A>C (p.Ser33824Arg)
c.98812A>C (p.Ser32938Arg)
c.98731A>C (p.Ser32911Arg)
c.80494A>C (p.Ser26832Arg)
c.70348A>C (p.Ser23450Arg)
2g.178527528C>ACA349400001TTN,TTN-AS1c.99894G>T (p.Met33298Ile)
c.80979G>T (p.Met26993Ile)
c.80778G>T (p.Met26926Ile)
c.80403G>T (p.Met26801Ile)
c.107598G>T (p.Met35866Ile)
c.102675G>T (p.Met34225Ile)
n.446+3892C>A
n.219+3892C>A
c.106695G>T (p.Met35565Ile)
c.80589G>T (p.Met26863Ile)
c.80448G>T (p.Met26816Ile)
c.106491G>T (p.Met35497Ile)
c.101889G>T (p.Met33963Ile)
c.101886G>T (p.Met33962Ile)
c.98928G>T (p.Met32976Ile)
c.80544G>T (p.Met26848Ile)
c.102039G>T (p.Met34013Ile)
c.102036G>T (p.Met34012Ile)
c.101469G>T (p.Met33823Ile)
c.98811G>T (p.Met32937Ile)
c.98730G>T (p.Met32910Ile)
c.80493G>T (p.Met26831Ile)
c.70347G>T (p.Met23449Ile)
2g.178527528C>GCA349400003TTN,TTN-AS1c.99894G>C (p.Met33298Ile)
c.80979G>C (p.Met26993Ile)
c.80778G>C (p.Met26926Ile)
c.80403G>C (p.Met26801Ile)
c.107598G>C (p.Met35866Ile)
c.102675G>C (p.Met34225Ile)
n.446+3892C>G
n.219+3892C>G
c.106695G>C (p.Met35565Ile)
c.80589G>C (p.Met26863Ile)
c.80448G>C (p.Met26816Ile)
c.106491G>C (p.Met35497Ile)
c.101889G>C (p.Met33963Ile)
c.101886G>C (p.Met33962Ile)
c.98928G>C (p.Met32976Ile)
c.80544G>C (p.Met26848Ile)
c.102039G>C (p.Met34013Ile)
c.102036G>C (p.Met34012Ile)
c.101469G>C (p.Met33823Ile)
c.98811G>C (p.Met32937Ile)
c.98730G>C (p.Met32910Ile)
c.80493G>C (p.Met26831Ile)
c.70347G>C (p.Met23449Ile)
2g.178527528C>TCA349400004TTN,TTN-AS1c.99894G>A (p.Met33298Ile)
c.80979G>A (p.Met26993Ile)
c.80778G>A (p.Met26926Ile)
c.80403G>A (p.Met26801Ile)
c.107598G>A (p.Met35866Ile)
c.102675G>A (p.Met34225Ile)
n.446+3892C>T
n.219+3892C>T
c.106695G>A (p.Met35565Ile)
c.80589G>A (p.Met26863Ile)
c.80448G>A (p.Met26816Ile)
c.106491G>A (p.Met35497Ile)
c.101889G>A (p.Met33963Ile)
c.101886G>A (p.Met33962Ile)
c.98928G>A (p.Met32976Ile)
c.80544G>A (p.Met26848Ile)
c.102039G>A (p.Met34013Ile)
c.102036G>A (p.Met34012Ile)
c.101469G>A (p.Met33823Ile)
c.98811G>A (p.Met32937Ile)
c.98730G>A (p.Met32910Ile)
c.80493G>A (p.Met26831Ile)
c.70347G>A (p.Met23449Ile)
2g.178527529delCA2577170191TTN,TTN-AS1c.99893del (p.Met33298ArgfsTer12)
c.80978del (p.Met26993ArgfsTer12)
c.80777del (p.Met26926ArgfsTer12)
c.80402del (p.Met26801ArgfsTer12)
c.107597del (p.Met35866ArgfsTer12)
c.102674del (p.Met34225ArgfsTer12)
n.446+3893del
n.219+3893del
c.106694del (p.Met35565ArgfsTer12)
c.80588del (p.Met26863ArgfsTer12)
c.80447del (p.Met26816ArgfsTer12)
c.106490del (p.Met35497ArgfsTer12)
c.101888del (p.Met33963ArgfsTer12)
c.101885del (p.Met33962ArgfsTer12)
c.98927del (p.Met32976ArgfsTer12)
c.80543del (p.Met26848ArgfsTer12)
c.102038del (p.Met34013ArgfsTer12)
c.102035del (p.Met34012ArgfsTer12)
c.101468del (p.Met33823ArgfsTer12)
c.98810del (p.Met32937ArgfsTer12)
c.98729del (p.Met32910ArgfsTer12)
c.80492del (p.Met26831ArgfsTer12)
c.70346del (p.Met23449ArgfsTer12)
2g.178527529A>CCA349400006TTN,TTN-AS1c.99893T>G (p.Met33298Arg)
c.80978T>G (p.Met26993Arg)
c.80777T>G (p.Met26926Arg)
c.80402T>G (p.Met26801Arg)
c.107597T>G (p.Met35866Arg)
c.102674T>G (p.Met34225Arg)
n.446+3893A>C
n.219+3893A>C
c.106694T>G (p.Met35565Arg)
c.80588T>G (p.Met26863Arg)
c.80447T>G (p.Met26816Arg)
c.106490T>G (p.Met35497Arg)
c.101888T>G (p.Met33963Arg)
c.101885T>G (p.Met33962Arg)
c.98927T>G (p.Met32976Arg)
c.80543T>G (p.Met26848Arg)
c.102038T>G (p.Met34013Arg)
c.102035T>G (p.Met34012Arg)
c.101468T>G (p.Met33823Arg)
c.98810T>G (p.Met32937Arg)
c.98729T>G (p.Met32910Arg)
c.80492T>G (p.Met26831Arg)
c.70346T>G (p.Met23449Arg)
2g.178527529A>GCA349400008TTN,TTN-AS1c.99893T>C (p.Met33298Thr)
c.80978T>C (p.Met26993Thr)
c.80777T>C (p.Met26926Thr)
c.80402T>C (p.Met26801Thr)
c.107597T>C (p.Met35866Thr)
c.102674T>C (p.Met34225Thr)
n.446+3893A>G
n.219+3893A>G
c.106694T>C (p.Met35565Thr)
c.80588T>C (p.Met26863Thr)
c.80447T>C (p.Met26816Thr)
c.106490T>C (p.Met35497Thr)
c.101888T>C (p.Met33963Thr)
c.101885T>C (p.Met33962Thr)
c.98927T>C (p.Met32976Thr)
c.80543T>C (p.Met26848Thr)
c.102038T>C (p.Met34013Thr)
c.102035T>C (p.Met34012Thr)
c.101468T>C (p.Met33823Thr)
c.98810T>C (p.Met32937Thr)
c.98729T>C (p.Met32910Thr)
c.80492T>C (p.Met26831Thr)
c.70346T>C (p.Met23449Thr)
2g.178527529A>TCA349400009TTN,TTN-AS1c.99893T>A (p.Met33298Lys)
c.80978T>A (p.Met26993Lys)
c.80777T>A (p.Met26926Lys)
c.80402T>A (p.Met26801Lys)
c.107597T>A (p.Met35866Lys)
c.102674T>A (p.Met34225Lys)
n.446+3893A>T
n.219+3893A>T
c.106694T>A (p.Met35565Lys)
c.80588T>A (p.Met26863Lys)
c.80447T>A (p.Met26816Lys)
c.106490T>A (p.Met35497Lys)
c.101888T>A (p.Met33963Lys)
c.101885T>A (p.Met33962Lys)
c.98927T>A (p.Met32976Lys)
c.80543T>A (p.Met26848Lys)
c.102038T>A (p.Met34013Lys)
c.102035T>A (p.Met34012Lys)
c.101468T>A (p.Met33823Lys)
c.98810T>A (p.Met32937Lys)
c.98729T>A (p.Met32910Lys)
c.80492T>A (p.Met26831Lys)
c.70346T>A (p.Met23449Lys)
 gnomAD v4
2g.178527530T>ACA349400011TTN,TTN-AS1c.99892A>T (p.Met33298Leu)
c.80977A>T (p.Met26993Leu)
c.80776A>T (p.Met26926Leu)
c.80401A>T (p.Met26801Leu)
c.107596A>T (p.Met35866Leu)
c.102673A>T (p.Met34225Leu)
n.446+3894T>A
n.219+3894T>A
c.106693A>T (p.Met35565Leu)
c.80587A>T (p.Met26863Leu)
c.80446A>T (p.Met26816Leu)
c.106489A>T (p.Met35497Leu)
c.101887A>T (p.Met33963Leu)
c.101884A>T (p.Met33962Leu)
c.98926A>T (p.Met32976Leu)
c.80542A>T (p.Met26848Leu)
c.102037A>T (p.Met34013Leu)
c.102034A>T (p.Met34012Leu)
c.101467A>T (p.Met33823Leu)
c.98809A>T (p.Met32937Leu)
c.98728A>T (p.Met32910Leu)
c.80491A>T (p.Met26831Leu)
c.70345A>T (p.Met23449Leu)
2g.178527530T>CCA349400014TTN,TTN-AS1c.99892A>G (p.Met33298Val)
c.80977A>G (p.Met26993Val)
c.80776A>G (p.Met26926Val)
c.80401A>G (p.Met26801Val)
c.107596A>G (p.Met35866Val)
c.102673A>G (p.Met34225Val)
n.446+3894T>C
n.219+3894T>C
c.106693A>G (p.Met35565Val)
c.80587A>G (p.Met26863Val)
c.80446A>G (p.Met26816Val)
c.106489A>G (p.Met35497Val)
c.101887A>G (p.Met33963Val)
c.101884A>G (p.Met33962Val)
c.98926A>G (p.Met32976Val)
c.80542A>G (p.Met26848Val)
c.102037A>G (p.Met34013Val)
c.102034A>G (p.Met34012Val)
c.101467A>G (p.Met33823Val)
c.98809A>G (p.Met32937Val)
c.98728A>G (p.Met32910Val)
c.80491A>G (p.Met26831Val)
c.70345A>G (p.Met23449Val)
2g.178527530T>GCA349400013TTN,TTN-AS1c.99892A>C (p.Met33298Leu)
c.80977A>C (p.Met26993Leu)
c.80776A>C (p.Met26926Leu)
c.80401A>C (p.Met26801Leu)
c.107596A>C (p.Met35866Leu)
c.102673A>C (p.Met34225Leu)
n.446+3894T>G
n.219+3894T>G
c.106693A>C (p.Met35565Leu)
c.80587A>C (p.Met26863Leu)
c.80446A>C (p.Met26816Leu)
c.106489A>C (p.Met35497Leu)
c.101887A>C (p.Met33963Leu)
c.101884A>C (p.Met33962Leu)
c.98926A>C (p.Met32976Leu)
c.80542A>C (p.Met26848Leu)
c.102037A>C (p.Met34013Leu)
c.102034A>C (p.Met34012Leu)
c.101467A>C (p.Met33823Leu)
c.98809A>C (p.Met32937Leu)
c.98728A>C (p.Met32910Leu)
c.80491A>C (p.Met26831Leu)
c.70345A>C (p.Met23449Leu)
2g.178527531T>ACA349400015TTN,TTN-AS1c.99891A>T (p.Glu33297Asp)
c.80976A>T (p.Glu26992Asp)
c.80775A>T (p.Glu26925Asp)
c.80400A>T (p.Glu26800Asp)
c.107595A>T (p.Glu35865Asp)
c.102672A>T (p.Glu34224Asp)
n.446+3895T>A
n.219+3895T>A
c.106692A>T (p.Glu35564Asp)
c.80586A>T (p.Glu26862Asp)
c.80445A>T (p.Glu26815Asp)
c.106488A>T (p.Glu35496Asp)
c.101886A>T (p.Glu33962Asp)
c.101883A>T (p.Glu33961Asp)
c.98925A>T (p.Glu32975Asp)
c.80541A>T (p.Glu26847Asp)
c.102036A>T (p.Glu34012Asp)
c.102033A>T (p.Glu34011Asp)
c.101466A>T (p.Glu33822Asp)
c.98808A>T (p.Glu32936Asp)
c.98727A>T (p.Glu32909Asp)
c.80490A>T (p.Glu26830Asp)
c.70344A>T (p.Glu23448Asp)
2g.178527531T>CCA430234294TTN,TTN-AS1c.99891A>G (p.Glu33297=)
c.80976A>G (p.Glu26992=)
c.80775A>G (p.Glu26925=)
c.80400A>G (p.Glu26800=)
c.107595A>G (p.Glu35865=)
c.102672A>G (p.Glu34224=)
n.446+3895T>C
n.219+3895T>C
c.106692A>G (p.Glu35564=)
c.80586A>G (p.Glu26862=)
c.80445A>G (p.Glu26815=)
c.106488A>G (p.Glu35496=)
c.101886A>G (p.Glu33962=)
c.101883A>G (p.Glu33961=)
c.98925A>G (p.Glu32975=)
c.80541A>G (p.Glu26847=)
c.102036A>G (p.Glu34012=)
c.102033A>G (p.Glu34011=)
c.101466A>G (p.Glu33822=)
c.98808A>G (p.Glu32936=)
c.98727A>G (p.Glu32909=)
c.80490A>G (p.Glu26830=)
c.70344A>G (p.Glu23448=)
2g.178527531T>GCA349400016TTN,TTN-AS1c.99891A>C (p.Glu33297Asp)
c.80976A>C (p.Glu26992Asp)
c.80775A>C (p.Glu26925Asp)
c.80400A>C (p.Glu26800Asp)
c.107595A>C (p.Glu35865Asp)
c.102672A>C (p.Glu34224Asp)
n.446+3895T>G
n.219+3895T>G
c.106692A>C (p.Glu35564Asp)
c.80586A>C (p.Glu26862Asp)
c.80445A>C (p.Glu26815Asp)
c.106488A>C (p.Glu35496Asp)
c.101886A>C (p.Glu33962Asp)
c.101883A>C (p.Glu33961Asp)
c.98925A>C (p.Glu32975Asp)
c.80541A>C (p.Glu26847Asp)
c.102036A>C (p.Glu34012Asp)
c.102033A>C (p.Glu34011Asp)
c.101466A>C (p.Glu33822Asp)
c.98808A>C (p.Glu32936Asp)
c.98727A>C (p.Glu32909Asp)
c.80490A>C (p.Glu26830Asp)
c.70344A>C (p.Glu23448Asp)
 ClinVar dbSNP
2g.178527531T=CA1310508162TTN,TTN-AS1c.99891A= (p.Glu33297=)
c.80976A= (p.Glu26992=)
c.80775A= (p.Glu26925=)
c.80400A= (p.Glu26800=)
c.107595A= (p.Glu35865=)
c.102672A= (p.Glu34224=)
n.446+3895T=
n.219+3895T=
c.106692A= (p.Glu35564=)
c.80586A= (p.Glu26862=)
c.80445A= (p.Glu26815=)
c.106488A= (p.Glu35496=)
c.101886A= (p.Glu33962=)
c.101883A= (p.Glu33961=)
c.98925A= (p.Glu32975=)
c.80541A= (p.Glu26847=)
c.102036A= (p.Glu34012=)
c.102033A= (p.Glu34011=)
c.101466A= (p.Glu33822=)
c.98808A= (p.Glu32936=)
c.98727A= (p.Glu32909=)
c.80490A= (p.Glu26830=)
c.70344A= (p.Glu23448=)
2g.178527532T>ACA349400017TTN,TTN-AS1c.99890A>T (p.Glu33297Val)
c.80975A>T (p.Glu26992Val)
c.80774A>T (p.Glu26925Val)
c.80399A>T (p.Glu26800Val)
c.107594A>T (p.Glu35865Val)
c.102671A>T (p.Glu34224Val)
n.446+3896T>A
n.219+3896T>A
c.106691A>T (p.Glu35564Val)
c.80585A>T (p.Glu26862Val)
c.80444A>T (p.Glu26815Val)
c.106487A>T (p.Glu35496Val)
c.101885A>T (p.Glu33962Val)
c.101882A>T (p.Glu33961Val)
c.98924A>T (p.Glu32975Val)
c.80540A>T (p.Glu26847Val)
c.102035A>T (p.Glu34012Val)
c.102032A>T (p.Glu34011Val)
c.101465A>T (p.Glu33822Val)
c.98807A>T (p.Glu32936Val)
c.98726A>T (p.Glu32909Val)
c.80489A>T (p.Glu26830Val)
c.70343A>T (p.Glu23448Val)
2g.178527532T>CCA349400018TTN,TTN-AS1c.99890A>G (p.Glu33297Gly)
c.80975A>G (p.Glu26992Gly)
c.80774A>G (p.Glu26925Gly)
c.80399A>G (p.Glu26800Gly)
c.107594A>G (p.Glu35865Gly)
c.102671A>G (p.Glu34224Gly)
n.446+3896T>C
n.219+3896T>C
c.106691A>G (p.Glu35564Gly)
c.80585A>G (p.Glu26862Gly)
c.80444A>G (p.Glu26815Gly)
c.106487A>G (p.Glu35496Gly)
c.101885A>G (p.Glu33962Gly)
c.101882A>G (p.Glu33961Gly)
c.98924A>G (p.Glu32975Gly)
c.80540A>G (p.Glu26847Gly)
c.102035A>G (p.Glu34012Gly)
c.102032A>G (p.Glu34011Gly)
c.101465A>G (p.Glu33822Gly)
c.98807A>G (p.Glu32936Gly)
c.98726A>G (p.Glu32909Gly)
c.80489A>G (p.Glu26830Gly)
c.70343A>G (p.Glu23448Gly)
2g.178527532T>GCA349400019TTN,TTN-AS1c.99890A>C (p.Glu33297Ala)
c.80975A>C (p.Glu26992Ala)
c.80774A>C (p.Glu26925Ala)
c.80399A>C (p.Glu26800Ala)
c.107594A>C (p.Glu35865Ala)
c.102671A>C (p.Glu34224Ala)
n.446+3896T>G
n.219+3896T>G
c.106691A>C (p.Glu35564Ala)
c.80585A>C (p.Glu26862Ala)
c.80444A>C (p.Glu26815Ala)
c.106487A>C (p.Glu35496Ala)
c.101885A>C (p.Glu33962Ala)
c.101882A>C (p.Glu33961Ala)
c.98924A>C (p.Glu32975Ala)
c.80540A>C (p.Glu26847Ala)
c.102035A>C (p.Glu34012Ala)
c.102032A>C (p.Glu34011Ala)
c.101465A>C (p.Glu33822Ala)
c.98807A>C (p.Glu32936Ala)
c.98726A>C (p.Glu32909Ala)
c.80489A>C (p.Glu26830Ala)
c.70343A>C (p.Glu23448Ala)
2g.178527533C>ACA349400020TTN,TTN-AS1c.99889G>T (p.Glu33297Ter)
c.80974G>T (p.Glu26992Ter)
c.80773G>T (p.Glu26925Ter)
c.80398G>T (p.Glu26800Ter)
c.107593G>T (p.Glu35865Ter)
c.102670G>T (p.Glu34224Ter)
n.446+3897C>A
n.219+3897C>A
c.106690G>T (p.Glu35564Ter)
c.80584G>T (p.Glu26862Ter)
c.80443G>T (p.Glu26815Ter)
c.106486G>T (p.Glu35496Ter)
c.101884G>T (p.Glu33962Ter)
c.101881G>T (p.Glu33961Ter)
c.98923G>T (p.Glu32975Ter)
c.80539G>T (p.Glu26847Ter)
c.102034G>T (p.Glu34012Ter)
c.102031G>T (p.Glu34011Ter)
c.101464G>T (p.Glu33822Ter)
c.98806G>T (p.Glu32936Ter)
c.98725G>T (p.Glu32909Ter)
c.80488G>T (p.Glu26830Ter)
c.70342G>T (p.Glu23448Ter)
2g.178527533C=CA1310508169TTN,TTN-AS1c.99889G= (p.Glu33297=)
c.80974G= (p.Glu26992=)
c.80773G= (p.Glu26925=)
c.80398G= (p.Glu26800=)
c.107593G= (p.Glu35865=)
c.102670G= (p.Glu34224=)
n.446+3897C=
n.219+3897C=
c.106690G= (p.Glu35564=)
c.80584G= (p.Glu26862=)
c.80443G= (p.Glu26815=)
c.106486G= (p.Glu35496=)
c.101884G= (p.Glu33962=)
c.101881G= (p.Glu33961=)
c.98923G= (p.Glu32975=)
c.80539G= (p.Glu26847=)
c.102034G= (p.Glu34012=)
c.102031G= (p.Glu34011=)
c.101464G= (p.Glu33822=)
c.98806G= (p.Glu32936=)
c.98725G= (p.Glu32909=)
c.80488G= (p.Glu26830=)
c.70342G= (p.Glu23448=)
2g.178527533C>GCA349400021TTN,TTN-AS1c.99889G>C (p.Glu33297Gln)
c.80974G>C (p.Glu26992Gln)
c.80773G>C (p.Glu26925Gln)
c.80398G>C (p.Glu26800Gln)
c.107593G>C (p.Glu35865Gln)
c.102670G>C (p.Glu34224Gln)
n.446+3897C>G
n.219+3897C>G
c.106690G>C (p.Glu35564Gln)
c.80584G>C (p.Glu26862Gln)
c.80443G>C (p.Glu26815Gln)
c.106486G>C (p.Glu35496Gln)
c.101884G>C (p.Glu33962Gln)
c.101881G>C (p.Glu33961Gln)
c.98923G>C (p.Glu32975Gln)
c.80539G>C (p.Glu26847Gln)
c.102034G>C (p.Glu34012Gln)
c.102031G>C (p.Glu34011Gln)
c.101464G>C (p.Glu33822Gln)
c.98806G>C (p.Glu32936Gln)
c.98725G>C (p.Glu32909Gln)
c.80488G>C (p.Glu26830Gln)
c.70342G>C (p.Glu23448Gln)
2g.178527533C>TCA1984925TTN,TTN-AS1c.99889G>A (p.Glu33297Lys)
c.80974G>A (p.Glu26992Lys)
c.80773G>A (p.Glu26925Lys)
c.80398G>A (p.Glu26800Lys)
c.107593G>A (p.Glu35865Lys)
c.102670G>A (p.Glu34224Lys)
n.446+3897C>T
n.219+3897C>T
c.106690G>A (p.Glu35564Lys)
c.80584G>A (p.Glu26862Lys)
c.80443G>A (p.Glu26815Lys)
c.106486G>A (p.Glu35496Lys)
c.101884G>A (p.Glu33962Lys)
c.101881G>A (p.Glu33961Lys)
c.98923G>A (p.Glu32975Lys)
c.80539G>A (p.Glu26847Lys)
c.102034G>A (p.Glu34012Lys)
c.102031G>A (p.Glu34011Lys)
c.101464G>A (p.Glu33822Lys)
c.98806G>A (p.Glu32936Lys)
c.98725G>A (p.Glu32909Lys)
c.80488G>A (p.Glu26830Lys)
c.70342G>A (p.Glu23448Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched