Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546440A>CCA349469034TTN,TTN-AS1c.87187T>G (p.Ser29063Ala)
c.68272T>G (p.Ser22758Ala)
c.68071T>G (p.Ser22691Ala)
c.67696T>G (p.Ser22566Ala)
c.94891T>G (p.Ser31631Ala)
c.89968T>G (p.Ser29990Ala)
n.446+22804A>C
n.2043+4079A>C
c.93988T>G (p.Ser31330Ala)
c.67882T>G (p.Ser22628Ala)
c.67741T>G (p.Ser22581Ala)
c.93784T>G (p.Ser31262Ala)
c.89182T>G (p.Ser29728Ala)
c.89179T>G (p.Ser29727Ala)
c.86221T>G (p.Ser28741Ala)
c.67837T>G (p.Ser22613Ala)
c.89332T>G (p.Ser29778Ala)
c.89329T>G (p.Ser29777Ala)
c.88762T>G (p.Ser29588Ala)
c.86104T>G (p.Ser28702Ala)
c.86023T>G (p.Ser28675Ala)
c.67786T>G (p.Ser22596Ala)
c.57640T>G (p.Ser19214Ala)
2g.178546440A>GCA349469037TTN,TTN-AS1c.87187T>C (p.Ser29063Pro)
c.68272T>C (p.Ser22758Pro)
c.68071T>C (p.Ser22691Pro)
c.67696T>C (p.Ser22566Pro)
c.94891T>C (p.Ser31631Pro)
c.89968T>C (p.Ser29990Pro)
n.446+22804A>G
n.2043+4079A>G
c.93988T>C (p.Ser31330Pro)
c.67882T>C (p.Ser22628Pro)
c.67741T>C (p.Ser22581Pro)
c.93784T>C (p.Ser31262Pro)
c.89182T>C (p.Ser29728Pro)
c.89179T>C (p.Ser29727Pro)
c.86221T>C (p.Ser28741Pro)
c.67837T>C (p.Ser22613Pro)
c.89332T>C (p.Ser29778Pro)
c.89329T>C (p.Ser29777Pro)
c.88762T>C (p.Ser29588Pro)
c.86104T>C (p.Ser28702Pro)
c.86023T>C (p.Ser28675Pro)
c.67786T>C (p.Ser22596Pro)
c.57640T>C (p.Ser19214Pro)
2g.178546440A>TCA349469045TTN,TTN-AS1c.87187T>A (p.Ser29063Thr)
c.68272T>A (p.Ser22758Thr)
c.68071T>A (p.Ser22691Thr)
c.67696T>A (p.Ser22566Thr)
c.94891T>A (p.Ser31631Thr)
c.89968T>A (p.Ser29990Thr)
n.446+22804A>T
n.2043+4079A>T
c.93988T>A (p.Ser31330Thr)
c.67882T>A (p.Ser22628Thr)
c.67741T>A (p.Ser22581Thr)
c.93784T>A (p.Ser31262Thr)
c.89182T>A (p.Ser29728Thr)
c.89179T>A (p.Ser29727Thr)
c.86221T>A (p.Ser28741Thr)
c.67837T>A (p.Ser22613Thr)
c.89332T>A (p.Ser29778Thr)
c.89329T>A (p.Ser29777Thr)
c.88762T>A (p.Ser29588Thr)
c.86104T>A (p.Ser28702Thr)
c.86023T>A (p.Ser28675Thr)
c.67786T>A (p.Ser22596Thr)
c.57640T>A (p.Ser19214Thr)
2g.178546441A=CA1310523077TTN,TTN-AS1c.87186T= (p.Gly29062=)
c.68271T= (p.Gly22757=)
c.68070T= (p.Gly22690=)
c.67695T= (p.Gly22565=)
c.94890T= (p.Gly31630=)
c.89967T= (p.Gly29989=)
n.446+22805A=
n.2043+4080A=
c.93987T= (p.Gly31329=)
c.67881T= (p.Gly22627=)
c.67740T= (p.Gly22580=)
c.93783T= (p.Gly31261=)
c.89181T= (p.Gly29727=)
c.89178T= (p.Gly29726=)
c.86220T= (p.Gly28740=)
c.67836T= (p.Gly22612=)
c.89331T= (p.Gly29777=)
c.89328T= (p.Gly29776=)
c.88761T= (p.Gly29587=)
c.86103T= (p.Gly28701=)
c.86022T= (p.Gly28674=)
c.67785T= (p.Gly22595=)
c.57639T= (p.Gly19213=)
2g.178546441A>CCA430242275TTN,TTN-AS1c.87186T>G (p.Gly29062=)
c.68271T>G (p.Gly22757=)
c.68070T>G (p.Gly22690=)
c.67695T>G (p.Gly22565=)
c.94890T>G (p.Gly31630=)
c.89967T>G (p.Gly29989=)
n.446+22805A>C
n.2043+4080A>C
c.93987T>G (p.Gly31329=)
c.67881T>G (p.Gly22627=)
c.67740T>G (p.Gly22580=)
c.93783T>G (p.Gly31261=)
c.89181T>G (p.Gly29727=)
c.89178T>G (p.Gly29726=)
c.86220T>G (p.Gly28740=)
c.67836T>G (p.Gly22612=)
c.89331T>G (p.Gly29777=)
c.89328T>G (p.Gly29776=)
c.88761T>G (p.Gly29587=)
c.86103T>G (p.Gly28701=)
c.86022T>G (p.Gly28674=)
c.67785T>G (p.Gly22595=)
c.57639T>G (p.Gly19213=)
 dbSNP
2g.178546441A>GCA430242276TTN,TTN-AS1c.87186T>C (p.Gly29062=)
c.68271T>C (p.Gly22757=)
c.68070T>C (p.Gly22690=)
c.67695T>C (p.Gly22565=)
c.94890T>C (p.Gly31630=)
c.89967T>C (p.Gly29989=)
n.446+22805A>G
n.2043+4080A>G
c.93987T>C (p.Gly31329=)
c.67881T>C (p.Gly22627=)
c.67740T>C (p.Gly22580=)
c.93783T>C (p.Gly31261=)
c.89181T>C (p.Gly29727=)
c.89178T>C (p.Gly29726=)
c.86220T>C (p.Gly28740=)
c.67836T>C (p.Gly22612=)
c.89331T>C (p.Gly29777=)
c.89328T>C (p.Gly29776=)
c.88761T>C (p.Gly29587=)
c.86103T>C (p.Gly28701=)
c.86022T>C (p.Gly28674=)
c.67785T>C (p.Gly22595=)
c.57639T>C (p.Gly19213=)
2g.178546441A>TCA430242277TTN,TTN-AS1c.87186T>A (p.Gly29062=)
c.68271T>A (p.Gly22757=)
c.68070T>A (p.Gly22690=)
c.67695T>A (p.Gly22565=)
c.94890T>A (p.Gly31630=)
c.89967T>A (p.Gly29989=)
n.446+22805A>T
n.2043+4080A>T
c.93987T>A (p.Gly31329=)
c.67881T>A (p.Gly22627=)
c.67740T>A (p.Gly22580=)
c.93783T>A (p.Gly31261=)
c.89181T>A (p.Gly29727=)
c.89178T>A (p.Gly29726=)
c.86220T>A (p.Gly28740=)
c.67836T>A (p.Gly22612=)
c.89331T>A (p.Gly29777=)
c.89328T>A (p.Gly29776=)
c.88761T>A (p.Gly29587=)
c.86103T>A (p.Gly28701=)
c.86022T>A (p.Gly28674=)
c.67785T>A (p.Gly22595=)
c.57639T>A (p.Gly19213=)
2g.178546442C>ACA349469052TTN,TTN-AS1c.87185G>T (p.Gly29062Val)
c.68270G>T (p.Gly22757Val)
c.68069G>T (p.Gly22690Val)
c.67694G>T (p.Gly22565Val)
c.94889G>T (p.Gly31630Val)
c.89966G>T (p.Gly29989Val)
n.446+22806C>A
n.2043+4081C>A
c.93986G>T (p.Gly31329Val)
c.67880G>T (p.Gly22627Val)
c.67739G>T (p.Gly22580Val)
c.93782G>T (p.Gly31261Val)
c.89180G>T (p.Gly29727Val)
c.89177G>T (p.Gly29726Val)
c.86219G>T (p.Gly28740Val)
c.67835G>T (p.Gly22612Val)
c.89330G>T (p.Gly29777Val)
c.89327G>T (p.Gly29776Val)
c.88760G>T (p.Gly29587Val)
c.86102G>T (p.Gly28701Val)
c.86021G>T (p.Gly28674Val)
c.67784G>T (p.Gly22595Val)
c.57638G>T (p.Gly19213Val)
2g.178546442C=CA1310523079TTN,TTN-AS1c.87185G= (p.Gly29062=)
c.68270G= (p.Gly22757=)
c.68069G= (p.Gly22690=)
c.67694G= (p.Gly22565=)
c.94889G= (p.Gly31630=)
c.89966G= (p.Gly29989=)
n.446+22806C=
n.2043+4081C=
c.93986G= (p.Gly31329=)
c.67880G= (p.Gly22627=)
c.67739G= (p.Gly22580=)
c.93782G= (p.Gly31261=)
c.89180G= (p.Gly29727=)
c.89177G= (p.Gly29726=)
c.86219G= (p.Gly28740=)
c.67835G= (p.Gly22612=)
c.89330G= (p.Gly29777=)
c.89327G= (p.Gly29776=)
c.88760G= (p.Gly29587=)
c.86102G= (p.Gly28701=)
c.86021G= (p.Gly28674=)
c.67784G= (p.Gly22595=)
c.57638G= (p.Gly19213=)
2g.178546442C>GCA349469063TTN,TTN-AS1c.87185G>C (p.Gly29062Ala)
c.68270G>C (p.Gly22757Ala)
c.68069G>C (p.Gly22690Ala)
c.67694G>C (p.Gly22565Ala)
c.94889G>C (p.Gly31630Ala)
c.89966G>C (p.Gly29989Ala)
n.446+22806C>G
n.2043+4081C>G
c.93986G>C (p.Gly31329Ala)
c.67880G>C (p.Gly22627Ala)
c.67739G>C (p.Gly22580Ala)
c.93782G>C (p.Gly31261Ala)
c.89180G>C (p.Gly29727Ala)
c.89177G>C (p.Gly29726Ala)
c.86219G>C (p.Gly28740Ala)
c.67835G>C (p.Gly22612Ala)
c.89330G>C (p.Gly29777Ala)
c.89327G>C (p.Gly29776Ala)
c.88760G>C (p.Gly29587Ala)
c.86102G>C (p.Gly28701Ala)
c.86021G>C (p.Gly28674Ala)
c.67784G>C (p.Gly22595Ala)
c.57638G>C (p.Gly19213Ala)
2g.178546442C>TCA1987048TTN,TTN-AS1c.87185G>A (p.Gly29062Asp)
c.68270G>A (p.Gly22757Asp)
c.68069G>A (p.Gly22690Asp)
c.67694G>A (p.Gly22565Asp)
c.94889G>A (p.Gly31630Asp)
c.89966G>A (p.Gly29989Asp)
n.446+22806C>T
n.2043+4081C>T
c.93986G>A (p.Gly31329Asp)
c.67880G>A (p.Gly22627Asp)
c.67739G>A (p.Gly22580Asp)
c.93782G>A (p.Gly31261Asp)
c.89180G>A (p.Gly29727Asp)
c.89177G>A (p.Gly29726Asp)
c.86219G>A (p.Gly28740Asp)
c.67835G>A (p.Gly22612Asp)
c.89330G>A (p.Gly29777Asp)
c.89327G>A (p.Gly29776Asp)
c.88760G>A (p.Gly29587Asp)
c.86102G>A (p.Gly28701Asp)
c.86021G>A (p.Gly28674Asp)
c.67784G>A (p.Gly22595Asp)
c.57638G>A (p.Gly19213Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546443C>ACA349469071TTN,TTN-AS1c.87184G>T (p.Gly29062Cys)
c.68269G>T (p.Gly22757Cys)
c.68068G>T (p.Gly22690Cys)
c.67693G>T (p.Gly22565Cys)
c.94888G>T (p.Gly31630Cys)
c.89965G>T (p.Gly29989Cys)
n.446+22807C>A
n.2043+4082C>A
c.93985G>T (p.Gly31329Cys)
c.67879G>T (p.Gly22627Cys)
c.67738G>T (p.Gly22580Cys)
c.93781G>T (p.Gly31261Cys)
c.89179G>T (p.Gly29727Cys)
c.89176G>T (p.Gly29726Cys)
c.86218G>T (p.Gly28740Cys)
c.67834G>T (p.Gly22612Cys)
c.89329G>T (p.Gly29777Cys)
c.89326G>T (p.Gly29776Cys)
c.88759G>T (p.Gly29587Cys)
c.86101G>T (p.Gly28701Cys)
c.86020G>T (p.Gly28674Cys)
c.67783G>T (p.Gly22595Cys)
c.57637G>T (p.Gly19213Cys)
2g.178546443C=CA1310523081TTN,TTN-AS1c.87184G= (p.Gly29062=)
c.68269G= (p.Gly22757=)
c.68068G= (p.Gly22690=)
c.67693G= (p.Gly22565=)
c.94888G= (p.Gly31630=)
c.89965G= (p.Gly29989=)
n.446+22807C=
n.2043+4082C=
c.93985G= (p.Gly31329=)
c.67879G= (p.Gly22627=)
c.67738G= (p.Gly22580=)
c.93781G= (p.Gly31261=)
c.89179G= (p.Gly29727=)
c.89176G= (p.Gly29726=)
c.86218G= (p.Gly28740=)
c.67834G= (p.Gly22612=)
c.89329G= (p.Gly29777=)
c.89326G= (p.Gly29776=)
c.88759G= (p.Gly29587=)
c.86101G= (p.Gly28701=)
c.86020G= (p.Gly28674=)
c.67783G= (p.Gly22595=)
c.57637G= (p.Gly19213=)
2g.178546443C>GCA349469082TTN,TTN-AS1c.87184G>C (p.Gly29062Arg)
c.68269G>C (p.Gly22757Arg)
c.68068G>C (p.Gly22690Arg)
c.67693G>C (p.Gly22565Arg)
c.94888G>C (p.Gly31630Arg)
c.89965G>C (p.Gly29989Arg)
n.446+22807C>G
n.2043+4082C>G
c.93985G>C (p.Gly31329Arg)
c.67879G>C (p.Gly22627Arg)
c.67738G>C (p.Gly22580Arg)
c.93781G>C (p.Gly31261Arg)
c.89179G>C (p.Gly29727Arg)
c.89176G>C (p.Gly29726Arg)
c.86218G>C (p.Gly28740Arg)
c.67834G>C (p.Gly22612Arg)
c.89329G>C (p.Gly29777Arg)
c.89326G>C (p.Gly29776Arg)
c.88759G>C (p.Gly29587Arg)
c.86101G>C (p.Gly28701Arg)
c.86020G>C (p.Gly28674Arg)
c.67783G>C (p.Gly22595Arg)
c.57637G>C (p.Gly19213Arg)
 dbSNP gnomAD v4
2g.178546443C>TCA349469072TTN,TTN-AS1c.87184G>A (p.Gly29062Ser)
c.68269G>A (p.Gly22757Ser)
c.68068G>A (p.Gly22690Ser)
c.67693G>A (p.Gly22565Ser)
c.94888G>A (p.Gly31630Ser)
c.89965G>A (p.Gly29989Ser)
n.446+22807C>T
n.2043+4082C>T
c.93985G>A (p.Gly31329Ser)
c.67879G>A (p.Gly22627Ser)
c.67738G>A (p.Gly22580Ser)
c.93781G>A (p.Gly31261Ser)
c.89179G>A (p.Gly29727Ser)
c.89176G>A (p.Gly29726Ser)
c.86218G>A (p.Gly28740Ser)
c.67834G>A (p.Gly22612Ser)
c.89329G>A (p.Gly29777Ser)
c.89326G>A (p.Gly29776Ser)
c.88759G>A (p.Gly29587Ser)
c.86101G>A (p.Gly28701Ser)
c.86020G>A (p.Gly28674Ser)
c.67783G>A (p.Gly22595Ser)
c.57637G>A (p.Gly19213Ser)
2g.178546444T>ACA430242279TTN,TTN-AS1c.87183A>T (p.Ala29061=)
c.68268A>T (p.Ala22756=)
c.68067A>T (p.Ala22689=)
c.67692A>T (p.Ala22564=)
c.94887A>T (p.Ala31629=)
c.89964A>T (p.Ala29988=)
n.446+22808T>A
n.2043+4083T>A
c.93984A>T (p.Ala31328=)
c.67878A>T (p.Ala22626=)
c.67737A>T (p.Ala22579=)
c.93780A>T (p.Ala31260=)
c.89178A>T (p.Ala29726=)
c.89175A>T (p.Ala29725=)
c.86217A>T (p.Ala28739=)
c.67833A>T (p.Ala22611=)
c.89328A>T (p.Ala29776=)
c.89325A>T (p.Ala29775=)
c.88758A>T (p.Ala29586=)
c.86100A>T (p.Ala28700=)
c.86019A>T (p.Ala28673=)
c.67782A>T (p.Ala22594=)
c.57636A>T (p.Ala19212=)
2g.178546444T>CCA430242280TTN,TTN-AS1c.87183A>G (p.Ala29061=)
c.68268A>G (p.Ala22756=)
c.68067A>G (p.Ala22689=)
c.67692A>G (p.Ala22564=)
c.94887A>G (p.Ala31629=)
c.89964A>G (p.Ala29988=)
n.446+22808T>C
n.2043+4083T>C
c.93984A>G (p.Ala31328=)
c.67878A>G (p.Ala22626=)
c.67737A>G (p.Ala22579=)
c.93780A>G (p.Ala31260=)
c.89178A>G (p.Ala29726=)
c.89175A>G (p.Ala29725=)
c.86217A>G (p.Ala28739=)
c.67833A>G (p.Ala22611=)
c.89328A>G (p.Ala29776=)
c.89325A>G (p.Ala29775=)
c.88758A>G (p.Ala29586=)
c.86100A>G (p.Ala28700=)
c.86019A>G (p.Ala28673=)
c.67782A>G (p.Ala22594=)
c.57636A>G (p.Ala19212=)
2g.178546444T>GCA430242281TTN,TTN-AS1c.87183A>C (p.Ala29061=)
c.68268A>C (p.Ala22756=)
c.68067A>C (p.Ala22689=)
c.67692A>C (p.Ala22564=)
c.94887A>C (p.Ala31629=)
c.89964A>C (p.Ala29988=)
n.446+22808T>G
n.2043+4083T>G
c.93984A>C (p.Ala31328=)
c.67878A>C (p.Ala22626=)
c.67737A>C (p.Ala22579=)
c.93780A>C (p.Ala31260=)
c.89178A>C (p.Ala29726=)
c.89175A>C (p.Ala29725=)
c.86217A>C (p.Ala28739=)
c.67833A>C (p.Ala22611=)
c.89328A>C (p.Ala29776=)
c.89325A>C (p.Ala29775=)
c.88758A>C (p.Ala29586=)
c.86100A>C (p.Ala28700=)
c.86019A>C (p.Ala28673=)
c.67782A>C (p.Ala22594=)
c.57636A>C (p.Ala19212=)
 gnomAD v4
2g.178546445G>ACA349469085TTN,TTN-AS1c.87182C>T (p.Ala29061Val)
c.68267C>T (p.Ala22756Val)
c.68066C>T (p.Ala22689Val)
c.67691C>T (p.Ala22564Val)
c.94886C>T (p.Ala31629Val)
c.89963C>T (p.Ala29988Val)
n.446+22809G>A
n.2043+4084G>A
c.93983C>T (p.Ala31328Val)
c.67877C>T (p.Ala22626Val)
c.67736C>T (p.Ala22579Val)
c.93779C>T (p.Ala31260Val)
c.89177C>T (p.Ala29726Val)
c.89174C>T (p.Ala29725Val)
c.86216C>T (p.Ala28739Val)
c.67832C>T (p.Ala22611Val)
c.89327C>T (p.Ala29776Val)
c.89324C>T (p.Ala29775Val)
c.88757C>T (p.Ala29586Val)
c.86099C>T (p.Ala28700Val)
c.86018C>T (p.Ala28673Val)
c.67781C>T (p.Ala22594Val)
c.57635C>T (p.Ala19212Val)
2g.178546445G>CCA349469090TTN,TTN-AS1c.87182C>G (p.Ala29061Gly)
c.68267C>G (p.Ala22756Gly)
c.68066C>G (p.Ala22689Gly)
c.67691C>G (p.Ala22564Gly)
c.94886C>G (p.Ala31629Gly)
c.89963C>G (p.Ala29988Gly)
n.446+22809G>C
n.2043+4084G>C
c.93983C>G (p.Ala31328Gly)
c.67877C>G (p.Ala22626Gly)
c.67736C>G (p.Ala22579Gly)
c.93779C>G (p.Ala31260Gly)
c.89177C>G (p.Ala29726Gly)
c.89174C>G (p.Ala29725Gly)
c.86216C>G (p.Ala28739Gly)
c.67832C>G (p.Ala22611Gly)
c.89327C>G (p.Ala29776Gly)
c.89324C>G (p.Ala29775Gly)
c.88757C>G (p.Ala29586Gly)
c.86099C>G (p.Ala28700Gly)
c.86018C>G (p.Ala28673Gly)
c.67781C>G (p.Ala22594Gly)
c.57635C>G (p.Ala19212Gly)
2g.178546445G>TCA349469089TTN,TTN-AS1c.87182C>A (p.Ala29061Glu)
c.68267C>A (p.Ala22756Glu)
c.68066C>A (p.Ala22689Glu)
c.67691C>A (p.Ala22564Glu)
c.94886C>A (p.Ala31629Glu)
c.89963C>A (p.Ala29988Glu)
n.446+22809G>T
n.2043+4084G>T
c.93983C>A (p.Ala31328Glu)
c.67877C>A (p.Ala22626Glu)
c.67736C>A (p.Ala22579Glu)
c.93779C>A (p.Ala31260Glu)
c.89177C>A (p.Ala29726Glu)
c.89174C>A (p.Ala29725Glu)
c.86216C>A (p.Ala28739Glu)
c.67832C>A (p.Ala22611Glu)
c.89327C>A (p.Ala29776Glu)
c.89324C>A (p.Ala29775Glu)
c.88757C>A (p.Ala29586Glu)
c.86099C>A (p.Ala28700Glu)
c.86018C>A (p.Ala28673Glu)
c.67781C>A (p.Ala22594Glu)
c.57635C>A (p.Ala19212Glu)
2g.178546446C>ACA349469091TTN,TTN-AS1c.87181G>T (p.Ala29061Ser)
c.68266G>T (p.Ala22756Ser)
c.68065G>T (p.Ala22689Ser)
c.67690G>T (p.Ala22564Ser)
c.94885G>T (p.Ala31629Ser)
c.89962G>T (p.Ala29988Ser)
n.446+22810C>A
n.2043+4085C>A
c.93982G>T (p.Ala31328Ser)
c.67876G>T (p.Ala22626Ser)
c.67735G>T (p.Ala22579Ser)
c.93778G>T (p.Ala31260Ser)
c.89176G>T (p.Ala29726Ser)
c.89173G>T (p.Ala29725Ser)
c.86215G>T (p.Ala28739Ser)
c.67831G>T (p.Ala22611Ser)
c.89326G>T (p.Ala29776Ser)
c.89323G>T (p.Ala29775Ser)
c.88756G>T (p.Ala29586Ser)
c.86098G>T (p.Ala28700Ser)
c.86017G>T (p.Ala28673Ser)
c.67780G>T (p.Ala22594Ser)
c.57634G>T (p.Ala19212Ser)
2g.178546446C=CA1310523083TTN,TTN-AS1c.87181G= (p.Ala29061=)
c.68266G= (p.Ala22756=)
c.68065G= (p.Ala22689=)
c.67690G= (p.Ala22564=)
c.94885G= (p.Ala31629=)
c.89962G= (p.Ala29988=)
n.446+22810C=
n.2043+4085C=
c.93982G= (p.Ala31328=)
c.67876G= (p.Ala22626=)
c.67735G= (p.Ala22579=)
c.93778G= (p.Ala31260=)
c.89176G= (p.Ala29726=)
c.89173G= (p.Ala29725=)
c.86215G= (p.Ala28739=)
c.67831G= (p.Ala22611=)
c.89326G= (p.Ala29776=)
c.89323G= (p.Ala29775=)
c.88756G= (p.Ala29586=)
c.86098G= (p.Ala28700=)
c.86017G= (p.Ala28673=)
c.67780G= (p.Ala22594=)
c.57634G= (p.Ala19212=)
2g.178546446C>GCA349469093TTN,TTN-AS1c.87181G>C (p.Ala29061Pro)
c.68266G>C (p.Ala22756Pro)
c.68065G>C (p.Ala22689Pro)
c.67690G>C (p.Ala22564Pro)
c.94885G>C (p.Ala31629Pro)
c.89962G>C (p.Ala29988Pro)
n.446+22810C>G
n.2043+4085C>G
c.93982G>C (p.Ala31328Pro)
c.67876G>C (p.Ala22626Pro)
c.67735G>C (p.Ala22579Pro)
c.93778G>C (p.Ala31260Pro)
c.89176G>C (p.Ala29726Pro)
c.89173G>C (p.Ala29725Pro)
c.86215G>C (p.Ala28739Pro)
c.67831G>C (p.Ala22611Pro)
c.89326G>C (p.Ala29776Pro)
c.89323G>C (p.Ala29775Pro)
c.88756G>C (p.Ala29586Pro)
c.86098G>C (p.Ala28700Pro)
c.86017G>C (p.Ala28673Pro)
c.67780G>C (p.Ala22594Pro)
c.57634G>C (p.Ala19212Pro)
2g.178546446C>TCA1987049TTN,TTN-AS1c.87181G>A (p.Ala29061Thr)
c.68266G>A (p.Ala22756Thr)
c.68065G>A (p.Ala22689Thr)
c.67690G>A (p.Ala22564Thr)
c.94885G>A (p.Ala31629Thr)
c.89962G>A (p.Ala29988Thr)
n.446+22810C>T
n.2043+4085C>T
c.93982G>A (p.Ala31328Thr)
c.67876G>A (p.Ala22626Thr)
c.67735G>A (p.Ala22579Thr)
c.93778G>A (p.Ala31260Thr)
c.89176G>A (p.Ala29726Thr)
c.89173G>A (p.Ala29725Thr)
c.86215G>A (p.Ala28739Thr)
c.67831G>A (p.Ala22611Thr)
c.89326G>A (p.Ala29776Thr)
c.89323G>A (p.Ala29775Thr)
c.88756G>A (p.Ala29586Thr)
c.86098G>A (p.Ala28700Thr)
c.86017G>A (p.Ala28673Thr)
c.67780G>A (p.Ala22594Thr)
c.57634G>A (p.Ala19212Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546447T>ACA349469096TTN,TTN-AS1c.87180A>T (p.Arg29060Ser)
c.68265A>T (p.Arg22755Ser)
c.68064A>T (p.Arg22688Ser)
c.67689A>T (p.Arg22563Ser)
c.94884A>T (p.Arg31628Ser)
c.89961A>T (p.Arg29987Ser)
n.446+22811T>A
n.2043+4086T>A
c.93981A>T (p.Arg31327Ser)
c.67875A>T (p.Arg22625Ser)
c.67734A>T (p.Arg22578Ser)
c.93777A>T (p.Arg31259Ser)
c.89175A>T (p.Arg29725Ser)
c.89172A>T (p.Arg29724Ser)
c.86214A>T (p.Arg28738Ser)
c.67830A>T (p.Arg22610Ser)
c.89325A>T (p.Arg29775Ser)
c.89322A>T (p.Arg29774Ser)
c.88755A>T (p.Arg29585Ser)
c.86097A>T (p.Arg28699Ser)
c.86016A>T (p.Arg28672Ser)
c.67779A>T (p.Arg22593Ser)
c.57633A>T (p.Arg19211Ser)
2g.178546447T>CCA430242285TTN,TTN-AS1c.87180A>G (p.Arg29060=)
c.68265A>G (p.Arg22755=)
c.68064A>G (p.Arg22688=)
c.67689A>G (p.Arg22563=)
c.94884A>G (p.Arg31628=)
c.89961A>G (p.Arg29987=)
n.446+22811T>C
n.2043+4086T>C
c.93981A>G (p.Arg31327=)
c.67875A>G (p.Arg22625=)
c.67734A>G (p.Arg22578=)
c.93777A>G (p.Arg31259=)
c.89175A>G (p.Arg29725=)
c.89172A>G (p.Arg29724=)
c.86214A>G (p.Arg28738=)
c.67830A>G (p.Arg22610=)
c.89325A>G (p.Arg29775=)
c.89322A>G (p.Arg29774=)
c.88755A>G (p.Arg29585=)
c.86097A>G (p.Arg28699=)
c.86016A>G (p.Arg28672=)
c.67779A>G (p.Arg22593=)
c.57633A>G (p.Arg19211=)
 ClinVar
2g.178546447T>GCA349469099TTN,TTN-AS1c.87180A>C (p.Arg29060Ser)
c.68265A>C (p.Arg22755Ser)
c.68064A>C (p.Arg22688Ser)
c.67689A>C (p.Arg22563Ser)
c.94884A>C (p.Arg31628Ser)
c.89961A>C (p.Arg29987Ser)
n.446+22811T>G
n.2043+4086T>G
c.93981A>C (p.Arg31327Ser)
c.67875A>C (p.Arg22625Ser)
c.67734A>C (p.Arg22578Ser)
c.93777A>C (p.Arg31259Ser)
c.89175A>C (p.Arg29725Ser)
c.89172A>C (p.Arg29724Ser)
c.86214A>C (p.Arg28738Ser)
c.67830A>C (p.Arg22610Ser)
c.89325A>C (p.Arg29775Ser)
c.89322A>C (p.Arg29774Ser)
c.88755A>C (p.Arg29585Ser)
c.86097A>C (p.Arg28699Ser)
c.86016A>C (p.Arg28672Ser)
c.67779A>C (p.Arg22593Ser)
c.57633A>C (p.Arg19211Ser)
2g.178546448C>ACA349469105TTN,TTN-AS1c.87179G>T (p.Arg29060Ile)
c.68264G>T (p.Arg22755Ile)
c.68063G>T (p.Arg22688Ile)
c.67688G>T (p.Arg22563Ile)
c.94883G>T (p.Arg31628Ile)
c.89960G>T (p.Arg29987Ile)
n.446+22812C>A
n.2043+4087C>A
c.93980G>T (p.Arg31327Ile)
c.67874G>T (p.Arg22625Ile)
c.67733G>T (p.Arg22578Ile)
c.93776G>T (p.Arg31259Ile)
c.89174G>T (p.Arg29725Ile)
c.89171G>T (p.Arg29724Ile)
c.86213G>T (p.Arg28738Ile)
c.67829G>T (p.Arg22610Ile)
c.89324G>T (p.Arg29775Ile)
c.89321G>T (p.Arg29774Ile)
c.88754G>T (p.Arg29585Ile)
c.86096G>T (p.Arg28699Ile)
c.86015G>T (p.Arg28672Ile)
c.67778G>T (p.Arg22593Ile)
c.57632G>T (p.Arg19211Ile)
2g.178546448C=CA1310523085TTN,TTN-AS1c.87179G= (p.Arg29060=)
c.68264G= (p.Arg22755=)
c.68063G= (p.Arg22688=)
c.67688G= (p.Arg22563=)
c.94883G= (p.Arg31628=)
c.89960G= (p.Arg29987=)
n.446+22812C=
n.2043+4087C=
c.93980G= (p.Arg31327=)
c.67874G= (p.Arg22625=)
c.67733G= (p.Arg22578=)
c.93776G= (p.Arg31259=)
c.89174G= (p.Arg29725=)
c.89171G= (p.Arg29724=)
c.86213G= (p.Arg28738=)
c.67829G= (p.Arg22610=)
c.89324G= (p.Arg29775=)
c.89321G= (p.Arg29774=)
c.88754G= (p.Arg29585=)
c.86096G= (p.Arg28699=)
c.86015G= (p.Arg28672=)
c.67778G= (p.Arg22593=)
c.57632G= (p.Arg19211=)
2g.178546448C>GCA349469110TTN,TTN-AS1c.87179G>C (p.Arg29060Thr)
c.68264G>C (p.Arg22755Thr)
c.68063G>C (p.Arg22688Thr)
c.67688G>C (p.Arg22563Thr)
c.94883G>C (p.Arg31628Thr)
c.89960G>C (p.Arg29987Thr)
n.446+22812C>G
n.2043+4087C>G
c.93980G>C (p.Arg31327Thr)
c.67874G>C (p.Arg22625Thr)
c.67733G>C (p.Arg22578Thr)
c.93776G>C (p.Arg31259Thr)
c.89174G>C (p.Arg29725Thr)
c.89171G>C (p.Arg29724Thr)
c.86213G>C (p.Arg28738Thr)
c.67829G>C (p.Arg22610Thr)
c.89324G>C (p.Arg29775Thr)
c.89321G>C (p.Arg29774Thr)
c.88754G>C (p.Arg29585Thr)
c.86096G>C (p.Arg28699Thr)
c.86015G>C (p.Arg28672Thr)
c.67778G>C (p.Arg22593Thr)
c.57632G>C (p.Arg19211Thr)
2g.178546448C>TCA349469115TTN,TTN-AS1c.87179G>A (p.Arg29060Lys)
c.68264G>A (p.Arg22755Lys)
c.68063G>A (p.Arg22688Lys)
c.67688G>A (p.Arg22563Lys)
c.94883G>A (p.Arg31628Lys)
c.89960G>A (p.Arg29987Lys)
n.446+22812C>T
n.2043+4087C>T
c.93980G>A (p.Arg31327Lys)
c.67874G>A (p.Arg22625Lys)
c.67733G>A (p.Arg22578Lys)
c.93776G>A (p.Arg31259Lys)
c.89174G>A (p.Arg29725Lys)
c.89171G>A (p.Arg29724Lys)
c.86213G>A (p.Arg28738Lys)
c.67829G>A (p.Arg22610Lys)
c.89324G>A (p.Arg29775Lys)
c.89321G>A (p.Arg29774Lys)
c.88754G>A (p.Arg29585Lys)
c.86096G>A (p.Arg28699Lys)
c.86015G>A (p.Arg28672Lys)
c.67778G>A (p.Arg22593Lys)
c.57632G>A (p.Arg19211Lys)
 dbSNP gnomAD v4
2g.178546449T>ACA349469119TTN,TTN-AS1c.87178A>T (p.Arg29060Ter)
c.68263A>T (p.Arg22755Ter)
c.68062A>T (p.Arg22688Ter)
c.67687A>T (p.Arg22563Ter)
c.94882A>T (p.Arg31628Ter)
c.89959A>T (p.Arg29987Ter)
n.446+22813T>A
n.2043+4088T>A
c.93979A>T (p.Arg31327Ter)
c.67873A>T (p.Arg22625Ter)
c.67732A>T (p.Arg22578Ter)
c.93775A>T (p.Arg31259Ter)
c.89173A>T (p.Arg29725Ter)
c.89170A>T (p.Arg29724Ter)
c.86212A>T (p.Arg28738Ter)
c.67828A>T (p.Arg22610Ter)
c.89323A>T (p.Arg29775Ter)
c.89320A>T (p.Arg29774Ter)
c.88753A>T (p.Arg29585Ter)
c.86095A>T (p.Arg28699Ter)
c.86014A>T (p.Arg28672Ter)
c.67777A>T (p.Arg22593Ter)
c.57631A>T (p.Arg19211Ter)
2g.178546449T>CCA349469125TTN,TTN-AS1c.87178A>G (p.Arg29060Gly)
c.68263A>G (p.Arg22755Gly)
c.68062A>G (p.Arg22688Gly)
c.67687A>G (p.Arg22563Gly)
c.94882A>G (p.Arg31628Gly)
c.89959A>G (p.Arg29987Gly)
n.446+22813T>C
n.2043+4088T>C
c.93979A>G (p.Arg31327Gly)
c.67873A>G (p.Arg22625Gly)
c.67732A>G (p.Arg22578Gly)
c.93775A>G (p.Arg31259Gly)
c.89173A>G (p.Arg29725Gly)
c.89170A>G (p.Arg29724Gly)
c.86212A>G (p.Arg28738Gly)
c.67828A>G (p.Arg22610Gly)
c.89323A>G (p.Arg29775Gly)
c.89320A>G (p.Arg29774Gly)
c.88753A>G (p.Arg29585Gly)
c.86095A>G (p.Arg28699Gly)
c.86014A>G (p.Arg28672Gly)
c.67777A>G (p.Arg22593Gly)
c.57631A>G (p.Arg19211Gly)
2g.178546449T>GCA430242286TTN,TTN-AS1c.87178A>C (p.Arg29060=)
c.68263A>C (p.Arg22755=)
c.68062A>C (p.Arg22688=)
c.67687A>C (p.Arg22563=)
c.94882A>C (p.Arg31628=)
c.89959A>C (p.Arg29987=)
n.446+22813T>G
n.2043+4088T>G
c.93979A>C (p.Arg31327=)
c.67873A>C (p.Arg22625=)
c.67732A>C (p.Arg22578=)
c.93775A>C (p.Arg31259=)
c.89173A>C (p.Arg29725=)
c.89170A>C (p.Arg29724=)
c.86212A>C (p.Arg28738=)
c.67828A>C (p.Arg22610=)
c.89323A>C (p.Arg29775=)
c.89320A>C (p.Arg29774=)
c.88753A>C (p.Arg29585=)
c.86095A>C (p.Arg28699=)
c.86014A>C (p.Arg28672=)
c.67777A>C (p.Arg22593=)
c.57631A>C (p.Arg19211=)
 gnomAD v4
2g.178546450G>ACA1987050TTN,TTN-AS1c.87177C>T (p.Ile29059=)
c.68262C>T (p.Ile22754=)
c.68061C>T (p.Ile22687=)
c.67686C>T (p.Ile22562=)
c.94881C>T (p.Ile31627=)
c.89958C>T (p.Ile29986=)
n.446+22814G>A
n.2043+4089G>A
c.93978C>T (p.Ile31326=)
c.67872C>T (p.Ile22624=)
c.67731C>T (p.Ile22577=)
c.93774C>T (p.Ile31258=)
c.89172C>T (p.Ile29724=)
c.89169C>T (p.Ile29723=)
c.86211C>T (p.Ile28737=)
c.67827C>T (p.Ile22609=)
c.89322C>T (p.Ile29774=)
c.89319C>T (p.Ile29773=)
c.88752C>T (p.Ile29584=)
c.86094C>T (p.Ile28698=)
c.86013C>T (p.Ile28671=)
c.67776C>T (p.Ile22592=)
c.57630C>T (p.Ile19210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546450G>CCA349469150TTN,TTN-AS1c.87177C>G (p.Ile29059Met)
c.68262C>G (p.Ile22754Met)
c.68061C>G (p.Ile22687Met)
c.67686C>G (p.Ile22562Met)
c.94881C>G (p.Ile31627Met)
c.89958C>G (p.Ile29986Met)
n.446+22814G>C
n.2043+4089G>C
c.93978C>G (p.Ile31326Met)
c.67872C>G (p.Ile22624Met)
c.67731C>G (p.Ile22577Met)
c.93774C>G (p.Ile31258Met)
c.89172C>G (p.Ile29724Met)
c.89169C>G (p.Ile29723Met)
c.86211C>G (p.Ile28737Met)
c.67827C>G (p.Ile22609Met)
c.89322C>G (p.Ile29774Met)
c.89319C>G (p.Ile29773Met)
c.88752C>G (p.Ile29584Met)
c.86094C>G (p.Ile28698Met)
c.86013C>G (p.Ile28671Met)
c.67776C>G (p.Ile22592Met)
c.57630C>G (p.Ile19210Met)
 gnomAD v4
2g.178546450G=CA1310523086TTN,TTN-AS1c.87177C= (p.Ile29059=)
c.68262C= (p.Ile22754=)
c.68061C= (p.Ile22687=)
c.67686C= (p.Ile22562=)
c.94881C= (p.Ile31627=)
c.89958C= (p.Ile29986=)
n.446+22814G=
n.2043+4089G=
c.93978C= (p.Ile31326=)
c.67872C= (p.Ile22624=)
c.67731C= (p.Ile22577=)
c.93774C= (p.Ile31258=)
c.89172C= (p.Ile29724=)
c.89169C= (p.Ile29723=)
c.86211C= (p.Ile28737=)
c.67827C= (p.Ile22609=)
c.89322C= (p.Ile29774=)
c.89319C= (p.Ile29773=)
c.88752C= (p.Ile29584=)
c.86094C= (p.Ile28698=)
c.86013C= (p.Ile28671=)
c.67776C= (p.Ile22592=)
c.57630C= (p.Ile19210=)
2g.178546450G>TCA430242287TTN,TTN-AS1c.87177C>A (p.Ile29059=)
c.68262C>A (p.Ile22754=)
c.68061C>A (p.Ile22687=)
c.67686C>A (p.Ile22562=)
c.94881C>A (p.Ile31627=)
c.89958C>A (p.Ile29986=)
n.446+22814G>T
n.2043+4089G>T
c.93978C>A (p.Ile31326=)
c.67872C>A (p.Ile22624=)
c.67731C>A (p.Ile22577=)
c.93774C>A (p.Ile31258=)
c.89172C>A (p.Ile29724=)
c.89169C>A (p.Ile29723=)
c.86211C>A (p.Ile28737=)
c.67827C>A (p.Ile22609=)
c.89322C>A (p.Ile29774=)
c.89319C>A (p.Ile29773=)
c.88752C>A (p.Ile29584=)
c.86094C>A (p.Ile28698=)
c.86013C>A (p.Ile28671=)
c.67776C>A (p.Ile22592=)
c.57630C>A (p.Ile19210=)
2g.178546451A=CA1310523088TTN,TTN-AS1c.87176T= (p.Ile29059=)
c.68261T= (p.Ile22754=)
c.68060T= (p.Ile22687=)
c.67685T= (p.Ile22562=)
c.94880T= (p.Ile31627=)
c.89957T= (p.Ile29986=)
n.446+22815A=
n.2043+4090A=
c.93977T= (p.Ile31326=)
c.67871T= (p.Ile22624=)
c.67730T= (p.Ile22577=)
c.93773T= (p.Ile31258=)
c.89171T= (p.Ile29724=)
c.89168T= (p.Ile29723=)
c.86210T= (p.Ile28737=)
c.67826T= (p.Ile22609=)
c.89321T= (p.Ile29774=)
c.89318T= (p.Ile29773=)
c.88751T= (p.Ile29584=)
c.86093T= (p.Ile28698=)
c.86012T= (p.Ile28671=)
c.67775T= (p.Ile22592=)
c.57629T= (p.Ile19210=)
2g.178546451A>CCA349469154TTN,TTN-AS1c.87176T>G (p.Ile29059Ser)
c.68261T>G (p.Ile22754Ser)
c.68060T>G (p.Ile22687Ser)
c.67685T>G (p.Ile22562Ser)
c.94880T>G (p.Ile31627Ser)
c.89957T>G (p.Ile29986Ser)
n.446+22815A>C
n.2043+4090A>C
c.93977T>G (p.Ile31326Ser)
c.67871T>G (p.Ile22624Ser)
c.67730T>G (p.Ile22577Ser)
c.93773T>G (p.Ile31258Ser)
c.89171T>G (p.Ile29724Ser)
c.89168T>G (p.Ile29723Ser)
c.86210T>G (p.Ile28737Ser)
c.67826T>G (p.Ile22609Ser)
c.89321T>G (p.Ile29774Ser)
c.89318T>G (p.Ile29773Ser)
c.88751T>G (p.Ile29584Ser)
c.86093T>G (p.Ile28698Ser)
c.86012T>G (p.Ile28671Ser)
c.67775T>G (p.Ile22592Ser)
c.57629T>G (p.Ile19210Ser)
2g.178546451A>GCA1987051TTN,TTN-AS1c.87176T>C (p.Ile29059Thr)
c.68261T>C (p.Ile22754Thr)
c.68060T>C (p.Ile22687Thr)
c.67685T>C (p.Ile22562Thr)
c.94880T>C (p.Ile31627Thr)
c.89957T>C (p.Ile29986Thr)
n.446+22815A>G
n.2043+4090A>G
c.93977T>C (p.Ile31326Thr)
c.67871T>C (p.Ile22624Thr)
c.67730T>C (p.Ile22577Thr)
c.93773T>C (p.Ile31258Thr)
c.89171T>C (p.Ile29724Thr)
c.89168T>C (p.Ile29723Thr)
c.86210T>C (p.Ile28737Thr)
c.67826T>C (p.Ile22609Thr)
c.89321T>C (p.Ile29774Thr)
c.89318T>C (p.Ile29773Thr)
c.88751T>C (p.Ile29584Thr)
c.86093T>C (p.Ile28698Thr)
c.86012T>C (p.Ile28671Thr)
c.67775T>C (p.Ile22592Thr)
c.57629T>C (p.Ile19210Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546451A>TCA349469164TTN,TTN-AS1c.87176T>A (p.Ile29059Asn)
c.68261T>A (p.Ile22754Asn)
c.68060T>A (p.Ile22687Asn)
c.67685T>A (p.Ile22562Asn)
c.94880T>A (p.Ile31627Asn)
c.89957T>A (p.Ile29986Asn)
n.446+22815A>T
n.2043+4090A>T
c.93977T>A (p.Ile31326Asn)
c.67871T>A (p.Ile22624Asn)
c.67730T>A (p.Ile22577Asn)
c.93773T>A (p.Ile31258Asn)
c.89171T>A (p.Ile29724Asn)
c.89168T>A (p.Ile29723Asn)
c.86210T>A (p.Ile28737Asn)
c.67826T>A (p.Ile22609Asn)
c.89321T>A (p.Ile29774Asn)
c.89318T>A (p.Ile29773Asn)
c.88751T>A (p.Ile29584Asn)
c.86093T>A (p.Ile28698Asn)
c.86012T>A (p.Ile28671Asn)
c.67775T>A (p.Ile22592Asn)
c.57629T>A (p.Ile19210Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178546452T>ACA349469193TTN,TTN-AS1c.87175A>T (p.Ile29059Phe)
c.68260A>T (p.Ile22754Phe)
c.68059A>T (p.Ile22687Phe)
c.67684A>T (p.Ile22562Phe)
c.94879A>T (p.Ile31627Phe)
c.89956A>T (p.Ile29986Phe)
n.446+22816T>A
n.2043+4091T>A
c.93976A>T (p.Ile31326Phe)
c.67870A>T (p.Ile22624Phe)
c.67729A>T (p.Ile22577Phe)
c.93772A>T (p.Ile31258Phe)
c.89170A>T (p.Ile29724Phe)
c.89167A>T (p.Ile29723Phe)
c.86209A>T (p.Ile28737Phe)
c.67825A>T (p.Ile22609Phe)
c.89320A>T (p.Ile29774Phe)
c.89317A>T (p.Ile29773Phe)
c.88750A>T (p.Ile29584Phe)
c.86092A>T (p.Ile28698Phe)
c.86011A>T (p.Ile28671Phe)
c.67774A>T (p.Ile22592Phe)
c.57628A>T (p.Ile19210Phe)
2g.178546452T>CCA349469168TTN,TTN-AS1c.87175A>G (p.Ile29059Val)
c.68260A>G (p.Ile22754Val)
c.68059A>G (p.Ile22687Val)
c.67684A>G (p.Ile22562Val)
c.94879A>G (p.Ile31627Val)
c.89956A>G (p.Ile29986Val)
n.446+22816T>C
n.2043+4091T>C
c.93976A>G (p.Ile31326Val)
c.67870A>G (p.Ile22624Val)
c.67729A>G (p.Ile22577Val)
c.93772A>G (p.Ile31258Val)
c.89170A>G (p.Ile29724Val)
c.89167A>G (p.Ile29723Val)
c.86209A>G (p.Ile28737Val)
c.67825A>G (p.Ile22609Val)
c.89320A>G (p.Ile29774Val)
c.89317A>G (p.Ile29773Val)
c.88750A>G (p.Ile29584Val)
c.86092A>G (p.Ile28698Val)
c.86011A>G (p.Ile28671Val)
c.67774A>G (p.Ile22592Val)
c.57628A>G (p.Ile19210Val)
2g.178546452T>GCA349469187TTN,TTN-AS1c.87175A>C (p.Ile29059Leu)
c.68260A>C (p.Ile22754Leu)
c.68059A>C (p.Ile22687Leu)
c.67684A>C (p.Ile22562Leu)
c.94879A>C (p.Ile31627Leu)
c.89956A>C (p.Ile29986Leu)
n.446+22816T>G
n.2043+4091T>G
c.93976A>C (p.Ile31326Leu)
c.67870A>C (p.Ile22624Leu)
c.67729A>C (p.Ile22577Leu)
c.93772A>C (p.Ile31258Leu)
c.89170A>C (p.Ile29724Leu)
c.89167A>C (p.Ile29723Leu)
c.86209A>C (p.Ile28737Leu)
c.67825A>C (p.Ile22609Leu)
c.89320A>C (p.Ile29774Leu)
c.89317A>C (p.Ile29773Leu)
c.88750A>C (p.Ile29584Leu)
c.86092A>C (p.Ile28698Leu)
c.86011A>C (p.Ile28671Leu)
c.67774A>C (p.Ile22592Leu)
c.57628A>C (p.Ile19210Leu)
 gnomAD v4
2g.178546453G>ACA430242289TTN,TTN-AS1c.87174C>T (p.Thr29058=)
c.68259C>T (p.Thr22753=)
c.68058C>T (p.Thr22686=)
c.67683C>T (p.Thr22561=)
c.94878C>T (p.Thr31626=)
c.89955C>T (p.Thr29985=)
n.446+22817G>A
n.2043+4092G>A
c.93975C>T (p.Thr31325=)
c.67869C>T (p.Thr22623=)
c.67728C>T (p.Thr22576=)
c.93771C>T (p.Thr31257=)
c.89169C>T (p.Thr29723=)
c.89166C>T (p.Thr29722=)
c.86208C>T (p.Thr28736=)
c.67824C>T (p.Thr22608=)
c.89319C>T (p.Thr29773=)
c.89316C>T (p.Thr29772=)
c.88749C>T (p.Thr29583=)
c.86091C>T (p.Thr28697=)
c.86010C>T (p.Thr28670=)
c.67773C>T (p.Thr22591=)
c.57627C>T (p.Thr19209=)
2g.178546453G>CCA430242290TTN,TTN-AS1c.87174C>G (p.Thr29058=)
c.68259C>G (p.Thr22753=)
c.68058C>G (p.Thr22686=)
c.67683C>G (p.Thr22561=)
c.94878C>G (p.Thr31626=)
c.89955C>G (p.Thr29985=)
n.446+22817G>C
n.2043+4092G>C
c.93975C>G (p.Thr31325=)
c.67869C>G (p.Thr22623=)
c.67728C>G (p.Thr22576=)
c.93771C>G (p.Thr31257=)
c.89169C>G (p.Thr29723=)
c.89166C>G (p.Thr29722=)
c.86208C>G (p.Thr28736=)
c.67824C>G (p.Thr22608=)
c.89319C>G (p.Thr29773=)
c.89316C>G (p.Thr29772=)
c.88749C>G (p.Thr29583=)
c.86091C>G (p.Thr28697=)
c.86010C>G (p.Thr28670=)
c.67773C>G (p.Thr22591=)
c.57627C>G (p.Thr19209=)
2g.178546453G>TCA430242291TTN,TTN-AS1c.87174C>A (p.Thr29058=)
c.68259C>A (p.Thr22753=)
c.68058C>A (p.Thr22686=)
c.67683C>A (p.Thr22561=)
c.94878C>A (p.Thr31626=)
c.89955C>A (p.Thr29985=)
n.446+22817G>T
n.2043+4092G>T
c.93975C>A (p.Thr31325=)
c.67869C>A (p.Thr22623=)
c.67728C>A (p.Thr22576=)
c.93771C>A (p.Thr31257=)
c.89169C>A (p.Thr29723=)
c.89166C>A (p.Thr29722=)
c.86208C>A (p.Thr28736=)
c.67824C>A (p.Thr22608=)
c.89319C>A (p.Thr29773=)
c.89316C>A (p.Thr29772=)
c.88749C>A (p.Thr29583=)
c.86091C>A (p.Thr28697=)
c.86010C>A (p.Thr28670=)
c.67773C>A (p.Thr22591=)
c.57627C>A (p.Thr19209=)
 gnomAD v4
2g.178546454G>ACA1987052TTN,TTN-AS1c.87173C>T (p.Thr29058Ile)
c.68258C>T (p.Thr22753Ile)
c.68057C>T (p.Thr22686Ile)
c.67682C>T (p.Thr22561Ile)
c.94877C>T (p.Thr31626Ile)
c.89954C>T (p.Thr29985Ile)
n.446+22818G>A
n.2043+4093G>A
c.93974C>T (p.Thr31325Ile)
c.67868C>T (p.Thr22623Ile)
c.67727C>T (p.Thr22576Ile)
c.93770C>T (p.Thr31257Ile)
c.89168C>T (p.Thr29723Ile)
c.89165C>T (p.Thr29722Ile)
c.86207C>T (p.Thr28736Ile)
c.67823C>T (p.Thr22608Ile)
c.89318C>T (p.Thr29773Ile)
c.89315C>T (p.Thr29772Ile)
c.88748C>T (p.Thr29583Ile)
c.86090C>T (p.Thr28697Ile)
c.86009C>T (p.Thr28670Ile)
c.67772C>T (p.Thr22591Ile)
c.57626C>T (p.Thr19209Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546454G>CCA349469207TTN,TTN-AS1c.87173C>G (p.Thr29058Ser)
c.68258C>G (p.Thr22753Ser)
c.68057C>G (p.Thr22686Ser)
c.67682C>G (p.Thr22561Ser)
c.94877C>G (p.Thr31626Ser)
c.89954C>G (p.Thr29985Ser)
n.446+22818G>C
n.2043+4093G>C
c.93974C>G (p.Thr31325Ser)
c.67868C>G (p.Thr22623Ser)
c.67727C>G (p.Thr22576Ser)
c.93770C>G (p.Thr31257Ser)
c.89168C>G (p.Thr29723Ser)
c.89165C>G (p.Thr29722Ser)
c.86207C>G (p.Thr28736Ser)
c.67823C>G (p.Thr22608Ser)
c.89318C>G (p.Thr29773Ser)
c.89315C>G (p.Thr29772Ser)
c.88748C>G (p.Thr29583Ser)
c.86090C>G (p.Thr28697Ser)
c.86009C>G (p.Thr28670Ser)
c.67772C>G (p.Thr22591Ser)
c.57626C>G (p.Thr19209Ser)
2g.178546454G=CA1310523091TTN,TTN-AS1c.87173C= (p.Thr29058=)
c.68258C= (p.Thr22753=)
c.68057C= (p.Thr22686=)
c.67682C= (p.Thr22561=)
c.94877C= (p.Thr31626=)
c.89954C= (p.Thr29985=)
n.446+22818G=
n.2043+4093G=
c.93974C= (p.Thr31325=)
c.67868C= (p.Thr22623=)
c.67727C= (p.Thr22576=)
c.93770C= (p.Thr31257=)
c.89168C= (p.Thr29723=)
c.89165C= (p.Thr29722=)
c.86207C= (p.Thr28736=)
c.67823C= (p.Thr22608=)
c.89318C= (p.Thr29773=)
c.89315C= (p.Thr29772=)
c.88748C= (p.Thr29583=)
c.86090C= (p.Thr28697=)
c.86009C= (p.Thr28670=)
c.67772C= (p.Thr22591=)
c.57626C= (p.Thr19209=)
2g.178546454G>TCA1987053TTN,TTN-AS1c.87173C>A (p.Thr29058Asn)
c.68258C>A (p.Thr22753Asn)
c.68057C>A (p.Thr22686Asn)
c.67682C>A (p.Thr22561Asn)
c.94877C>A (p.Thr31626Asn)
c.89954C>A (p.Thr29985Asn)
n.446+22818G>T
n.2043+4093G>T
c.93974C>A (p.Thr31325Asn)
c.67868C>A (p.Thr22623Asn)
c.67727C>A (p.Thr22576Asn)
c.93770C>A (p.Thr31257Asn)
c.89168C>A (p.Thr29723Asn)
c.89165C>A (p.Thr29722Asn)
c.86207C>A (p.Thr28736Asn)
c.67823C>A (p.Thr22608Asn)
c.89318C>A (p.Thr29773Asn)
c.89315C>A (p.Thr29772Asn)
c.88748C>A (p.Thr29583Asn)
c.86090C>A (p.Thr28697Asn)
c.86009C>A (p.Thr28670Asn)
c.67772C>A (p.Thr22591Asn)
c.57626C>A (p.Thr19209Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546455T>ACA349469213TTN,TTN-AS1c.87172A>T (p.Thr29058Ser)
c.68257A>T (p.Thr22753Ser)
c.68056A>T (p.Thr22686Ser)
c.67681A>T (p.Thr22561Ser)
c.94876A>T (p.Thr31626Ser)
c.89953A>T (p.Thr29985Ser)
n.446+22819T>A
n.2043+4094T>A
c.93973A>T (p.Thr31325Ser)
c.67867A>T (p.Thr22623Ser)
c.67726A>T (p.Thr22576Ser)
c.93769A>T (p.Thr31257Ser)
c.89167A>T (p.Thr29723Ser)
c.89164A>T (p.Thr29722Ser)
c.86206A>T (p.Thr28736Ser)
c.67822A>T (p.Thr22608Ser)
c.89317A>T (p.Thr29773Ser)
c.89314A>T (p.Thr29772Ser)
c.88747A>T (p.Thr29583Ser)
c.86089A>T (p.Thr28697Ser)
c.86008A>T (p.Thr28670Ser)
c.67771A>T (p.Thr22591Ser)
c.57625A>T (p.Thr19209Ser)
2g.178546455T>CCA349469214TTN,TTN-AS1c.87172A>G (p.Thr29058Ala)
c.68257A>G (p.Thr22753Ala)
c.68056A>G (p.Thr22686Ala)
c.67681A>G (p.Thr22561Ala)
c.94876A>G (p.Thr31626Ala)
c.89953A>G (p.Thr29985Ala)
n.446+22819T>C
n.2043+4094T>C
c.93973A>G (p.Thr31325Ala)
c.67867A>G (p.Thr22623Ala)
c.67726A>G (p.Thr22576Ala)
c.93769A>G (p.Thr31257Ala)
c.89167A>G (p.Thr29723Ala)
c.89164A>G (p.Thr29722Ala)
c.86206A>G (p.Thr28736Ala)
c.67822A>G (p.Thr22608Ala)
c.89317A>G (p.Thr29773Ala)
c.89314A>G (p.Thr29772Ala)
c.88747A>G (p.Thr29583Ala)
c.86089A>G (p.Thr28697Ala)
c.86008A>G (p.Thr28670Ala)
c.67771A>G (p.Thr22591Ala)
c.57625A>G (p.Thr19209Ala)
2g.178546455T>GCA349469220TTN,TTN-AS1c.87172A>C (p.Thr29058Pro)
c.68257A>C (p.Thr22753Pro)
c.68056A>C (p.Thr22686Pro)
c.67681A>C (p.Thr22561Pro)
c.94876A>C (p.Thr31626Pro)
c.89953A>C (p.Thr29985Pro)
n.446+22819T>G
n.2043+4094T>G
c.93973A>C (p.Thr31325Pro)
c.67867A>C (p.Thr22623Pro)
c.67726A>C (p.Thr22576Pro)
c.93769A>C (p.Thr31257Pro)
c.89167A>C (p.Thr29723Pro)
c.89164A>C (p.Thr29722Pro)
c.86206A>C (p.Thr28736Pro)
c.67822A>C (p.Thr22608Pro)
c.89317A>C (p.Thr29773Pro)
c.89314A>C (p.Thr29772Pro)
c.88747A>C (p.Thr29583Pro)
c.86089A>C (p.Thr28697Pro)
c.86008A>C (p.Thr28670Pro)
c.67771A>C (p.Thr22591Pro)
c.57625A>C (p.Thr19209Pro)
2g.178546456A=CA1310523093TTN,TTN-AS1c.87171T= (p.Val29057=)
c.68256T= (p.Val22752=)
c.68055T= (p.Val22685=)
c.67680T= (p.Val22560=)
c.94875T= (p.Val31625=)
c.89952T= (p.Val29984=)
n.446+22820A=
n.2043+4095A=
c.93972T= (p.Val31324=)
c.67866T= (p.Val22622=)
c.67725T= (p.Val22575=)
c.93768T= (p.Val31256=)
c.89166T= (p.Val29722=)
c.89163T= (p.Val29721=)
c.86205T= (p.Val28735=)
c.67821T= (p.Val22607=)
c.89316T= (p.Val29772=)
c.89313T= (p.Val29771=)
c.88746T= (p.Val29582=)
c.86088T= (p.Val28696=)
c.86007T= (p.Val28669=)
c.67770T= (p.Val22590=)
c.57624T= (p.Val19208=)
2g.178546456A>CCA430242293TTN,TTN-AS1c.87171T>G (p.Val29057=)
c.68256T>G (p.Val22752=)
c.68055T>G (p.Val22685=)
c.67680T>G (p.Val22560=)
c.94875T>G (p.Val31625=)
c.89952T>G (p.Val29984=)
n.446+22820A>C
n.2043+4095A>C
c.93972T>G (p.Val31324=)
c.67866T>G (p.Val22622=)
c.67725T>G (p.Val22575=)
c.93768T>G (p.Val31256=)
c.89166T>G (p.Val29722=)
c.89163T>G (p.Val29721=)
c.86205T>G (p.Val28735=)
c.67821T>G (p.Val22607=)
c.89316T>G (p.Val29772=)
c.89313T>G (p.Val29771=)
c.88746T>G (p.Val29582=)
c.86088T>G (p.Val28696=)
c.86007T>G (p.Val28669=)
c.67770T>G (p.Val22590=)
c.57624T>G (p.Val19208=)
2g.178546456A>GCA60972364TTN,TTN-AS1c.87171T>C (p.Val29057=)
c.68256T>C (p.Val22752=)
c.68055T>C (p.Val22685=)
c.67680T>C (p.Val22560=)
c.94875T>C (p.Val31625=)
c.89952T>C (p.Val29984=)
n.446+22820A>G
n.2043+4095A>G
c.93972T>C (p.Val31324=)
c.67866T>C (p.Val22622=)
c.67725T>C (p.Val22575=)
c.93768T>C (p.Val31256=)
c.89166T>C (p.Val29722=)
c.89163T>C (p.Val29721=)
c.86205T>C (p.Val28735=)
c.67821T>C (p.Val22607=)
c.89316T>C (p.Val29772=)
c.89313T>C (p.Val29771=)
c.88746T>C (p.Val29582=)
c.86088T>C (p.Val28696=)
c.86007T>C (p.Val28669=)
c.67770T>C (p.Val22590=)
c.57624T>C (p.Val19208=)
 ClinVar dbSNP gnomAD v4
2g.178546456A>TCA430242294TTN,TTN-AS1c.87171T>A (p.Val29057=)
c.68256T>A (p.Val22752=)
c.68055T>A (p.Val22685=)
c.67680T>A (p.Val22560=)
c.94875T>A (p.Val31625=)
c.89952T>A (p.Val29984=)
n.446+22820A>T
n.2043+4095A>T
c.93972T>A (p.Val31324=)
c.67866T>A (p.Val22622=)
c.67725T>A (p.Val22575=)
c.93768T>A (p.Val31256=)
c.89166T>A (p.Val29722=)
c.89163T>A (p.Val29721=)
c.86205T>A (p.Val28735=)
c.67821T>A (p.Val22607=)
c.89316T>A (p.Val29772=)
c.89313T>A (p.Val29771=)
c.88746T>A (p.Val29582=)
c.86088T>A (p.Val28696=)
c.86007T>A (p.Val28669=)
c.67770T>A (p.Val22590=)
c.57624T>A (p.Val19208=)
2g.178546457A>CCA349469247TTN,TTN-AS1c.87170T>G (p.Val29057Gly)
c.68255T>G (p.Val22752Gly)
c.68054T>G (p.Val22685Gly)
c.67679T>G (p.Val22560Gly)
c.94874T>G (p.Val31625Gly)
c.89951T>G (p.Val29984Gly)
n.446+22821A>C
n.2043+4096A>C
c.93971T>G (p.Val31324Gly)
c.67865T>G (p.Val22622Gly)
c.67724T>G (p.Val22575Gly)
c.93767T>G (p.Val31256Gly)
c.89165T>G (p.Val29722Gly)
c.89162T>G (p.Val29721Gly)
c.86204T>G (p.Val28735Gly)
c.67820T>G (p.Val22607Gly)
c.89315T>G (p.Val29772Gly)
c.89312T>G (p.Val29771Gly)
c.88745T>G (p.Val29582Gly)
c.86087T>G (p.Val28696Gly)
c.86006T>G (p.Val28669Gly)
c.67769T>G (p.Val22590Gly)
c.57623T>G (p.Val19208Gly)
2g.178546457A>GCA349469248TTN,TTN-AS1c.87170T>C (p.Val29057Ala)
c.68255T>C (p.Val22752Ala)
c.68054T>C (p.Val22685Ala)
c.67679T>C (p.Val22560Ala)
c.94874T>C (p.Val31625Ala)
c.89951T>C (p.Val29984Ala)
n.446+22821A>G
n.2043+4096A>G
c.93971T>C (p.Val31324Ala)
c.67865T>C (p.Val22622Ala)
c.67724T>C (p.Val22575Ala)
c.93767T>C (p.Val31256Ala)
c.89165T>C (p.Val29722Ala)
c.89162T>C (p.Val29721Ala)
c.86204T>C (p.Val28735Ala)
c.67820T>C (p.Val22607Ala)
c.89315T>C (p.Val29772Ala)
c.89312T>C (p.Val29771Ala)
c.88745T>C (p.Val29582Ala)
c.86087T>C (p.Val28696Ala)
c.86006T>C (p.Val28669Ala)
c.67769T>C (p.Val22590Ala)
c.57623T>C (p.Val19208Ala)
2g.178546457A>TCA349469250TTN,TTN-AS1c.87170T>A (p.Val29057Asp)
c.68255T>A (p.Val22752Asp)
c.68054T>A (p.Val22685Asp)
c.67679T>A (p.Val22560Asp)
c.94874T>A (p.Val31625Asp)
c.89951T>A (p.Val29984Asp)
n.446+22821A>T
n.2043+4096A>T
c.93971T>A (p.Val31324Asp)
c.67865T>A (p.Val22622Asp)
c.67724T>A (p.Val22575Asp)
c.93767T>A (p.Val31256Asp)
c.89165T>A (p.Val29722Asp)
c.89162T>A (p.Val29721Asp)
c.86204T>A (p.Val28735Asp)
c.67820T>A (p.Val22607Asp)
c.89315T>A (p.Val29772Asp)
c.89312T>A (p.Val29771Asp)
c.88745T>A (p.Val29582Asp)
c.86087T>A (p.Val28696Asp)
c.86006T>A (p.Val28669Asp)
c.67769T>A (p.Val22590Asp)
c.57623T>A (p.Val19208Asp)
2g.178546458C>ACA349469257TTN,TTN-AS1c.87169G>T (p.Val29057Phe)
c.68254G>T (p.Val22752Phe)
c.68053G>T (p.Val22685Phe)
c.67678G>T (p.Val22560Phe)
c.94873G>T (p.Val31625Phe)
c.89950G>T (p.Val29984Phe)
n.446+22822C>A
n.2043+4097C>A
c.93970G>T (p.Val31324Phe)
c.67864G>T (p.Val22622Phe)
c.67723G>T (p.Val22575Phe)
c.93766G>T (p.Val31256Phe)
c.89164G>T (p.Val29722Phe)
c.89161G>T (p.Val29721Phe)
c.86203G>T (p.Val28735Phe)
c.67819G>T (p.Val22607Phe)
c.89314G>T (p.Val29772Phe)
c.89311G>T (p.Val29771Phe)
c.88744G>T (p.Val29582Phe)
c.86086G>T (p.Val28696Phe)
c.86005G>T (p.Val28669Phe)
c.67768G>T (p.Val22590Phe)
c.57622G>T (p.Val19208Phe)
2g.178546458C=CA1310523095TTN,TTN-AS1c.87169G= (p.Val29057=)
c.68254G= (p.Val22752=)
c.68053G= (p.Val22685=)
c.67678G= (p.Val22560=)
c.94873G= (p.Val31625=)
c.89950G= (p.Val29984=)
n.446+22822C=
n.2043+4097C=
c.93970G= (p.Val31324=)
c.67864G= (p.Val22622=)
c.67723G= (p.Val22575=)
c.93766G= (p.Val31256=)
c.89164G= (p.Val29722=)
c.89161G= (p.Val29721=)
c.86203G= (p.Val28735=)
c.67819G= (p.Val22607=)
c.89314G= (p.Val29772=)
c.89311G= (p.Val29771=)
c.88744G= (p.Val29582=)
c.86086G= (p.Val28696=)
c.86005G= (p.Val28669=)
c.67768G= (p.Val22590=)
c.57622G= (p.Val19208=)
2g.178546458C>GCA349469255TTN,TTN-AS1c.87169G>C (p.Val29057Leu)
c.68254G>C (p.Val22752Leu)
c.68053G>C (p.Val22685Leu)
c.67678G>C (p.Val22560Leu)
c.94873G>C (p.Val31625Leu)
c.89950G>C (p.Val29984Leu)
n.446+22822C>G
n.2043+4097C>G
c.93970G>C (p.Val31324Leu)
c.67864G>C (p.Val22622Leu)
c.67723G>C (p.Val22575Leu)
c.93766G>C (p.Val31256Leu)
c.89164G>C (p.Val29722Leu)
c.89161G>C (p.Val29721Leu)
c.86203G>C (p.Val28735Leu)
c.67819G>C (p.Val22607Leu)
c.89314G>C (p.Val29772Leu)
c.89311G>C (p.Val29771Leu)
c.88744G>C (p.Val29582Leu)
c.86086G>C (p.Val28696Leu)
c.86005G>C (p.Val28669Leu)
c.67768G>C (p.Val22590Leu)
c.57622G>C (p.Val19208Leu)
2g.178546458C>TCA349469254TTN,TTN-AS1c.87169G>A (p.Val29057Ile)
c.68254G>A (p.Val22752Ile)
c.68053G>A (p.Val22685Ile)
c.67678G>A (p.Val22560Ile)
c.94873G>A (p.Val31625Ile)
c.89950G>A (p.Val29984Ile)
n.446+22822C>T
n.2043+4097C>T
c.93970G>A (p.Val31324Ile)
c.67864G>A (p.Val22622Ile)
c.67723G>A (p.Val22575Ile)
c.93766G>A (p.Val31256Ile)
c.89164G>A (p.Val29722Ile)
c.89161G>A (p.Val29721Ile)
c.86203G>A (p.Val28735Ile)
c.67819G>A (p.Val22607Ile)
c.89314G>A (p.Val29772Ile)
c.89311G>A (p.Val29771Ile)
c.88744G>A (p.Val29582Ile)
c.86086G>A (p.Val28696Ile)
c.86005G>A (p.Val28669Ile)
c.67768G>A (p.Val22590Ile)
c.57622G>A (p.Val19208Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178546459C>ACA430242295TTN,TTN-AS1c.87168G>T (p.Leu29056=)
c.68253G>T (p.Leu22751=)
c.68052G>T (p.Leu22684=)
c.67677G>T (p.Leu22559=)
c.94872G>T (p.Leu31624=)
c.89949G>T (p.Leu29983=)
n.446+22823C>A
n.2043+4098C>A
c.93969G>T (p.Leu31323=)
c.67863G>T (p.Leu22621=)
c.67722G>T (p.Leu22574=)
c.93765G>T (p.Leu31255=)
c.89163G>T (p.Leu29721=)
c.89160G>T (p.Leu29720=)
c.86202G>T (p.Leu28734=)
c.67818G>T (p.Leu22606=)
c.89313G>T (p.Leu29771=)
c.89310G>T (p.Leu29770=)
c.88743G>T (p.Leu29581=)
c.86085G>T (p.Leu28695=)
c.86004G>T (p.Leu28668=)
c.67767G>T (p.Leu22589=)
c.57621G>T (p.Leu19207=)
2g.178546459C>GCA430242296TTN,TTN-AS1c.87168G>C (p.Leu29056=)
c.68253G>C (p.Leu22751=)
c.68052G>C (p.Leu22684=)
c.67677G>C (p.Leu22559=)
c.94872G>C (p.Leu31624=)
c.89949G>C (p.Leu29983=)
n.446+22823C>G
n.2043+4098C>G
c.93969G>C (p.Leu31323=)
c.67863G>C (p.Leu22621=)
c.67722G>C (p.Leu22574=)
c.93765G>C (p.Leu31255=)
c.89163G>C (p.Leu29721=)
c.89160G>C (p.Leu29720=)
c.86202G>C (p.Leu28734=)
c.67818G>C (p.Leu22606=)
c.89313G>C (p.Leu29771=)
c.89310G>C (p.Leu29770=)
c.88743G>C (p.Leu29581=)
c.86085G>C (p.Leu28695=)
c.86004G>C (p.Leu28668=)
c.67767G>C (p.Leu22589=)
c.57621G>C (p.Leu19207=)
2g.178546459C>TCA430242297TTN,TTN-AS1c.87168G>A (p.Leu29056=)
c.68253G>A (p.Leu22751=)
c.68052G>A (p.Leu22684=)
c.67677G>A (p.Leu22559=)
c.94872G>A (p.Leu31624=)
c.89949G>A (p.Leu29983=)
n.446+22823C>T
n.2043+4098C>T
c.93969G>A (p.Leu31323=)
c.67863G>A (p.Leu22621=)
c.67722G>A (p.Leu22574=)
c.93765G>A (p.Leu31255=)
c.89163G>A (p.Leu29721=)
c.89160G>A (p.Leu29720=)
c.86202G>A (p.Leu28734=)
c.67818G>A (p.Leu22606=)
c.89313G>A (p.Leu29771=)
c.89310G>A (p.Leu29770=)
c.88743G>A (p.Leu29581=)
c.86085G>A (p.Leu28695=)
c.86004G>A (p.Leu28668=)
c.67767G>A (p.Leu22589=)
c.57621G>A (p.Leu19207=)
 gnomAD v4
2g.178546460A>CCA349469259TTN,TTN-AS1c.87167T>G (p.Leu29056Arg)
c.68252T>G (p.Leu22751Arg)
c.68051T>G (p.Leu22684Arg)
c.67676T>G (p.Leu22559Arg)
c.94871T>G (p.Leu31624Arg)
c.89948T>G (p.Leu29983Arg)
n.446+22824A>C
n.2043+4099A>C
c.93968T>G (p.Leu31323Arg)
c.67862T>G (p.Leu22621Arg)
c.67721T>G (p.Leu22574Arg)
c.93764T>G (p.Leu31255Arg)
c.89162T>G (p.Leu29721Arg)
c.89159T>G (p.Leu29720Arg)
c.86201T>G (p.Leu28734Arg)
c.67817T>G (p.Leu22606Arg)
c.89312T>G (p.Leu29771Arg)
c.89309T>G (p.Leu29770Arg)
c.88742T>G (p.Leu29581Arg)
c.86084T>G (p.Leu28695Arg)
c.86003T>G (p.Leu28668Arg)
c.67766T>G (p.Leu22589Arg)
c.57620T>G (p.Leu19207Arg)
2g.178546460A>GCA349469260TTN,TTN-AS1c.87167T>C (p.Leu29056Pro)
c.68252T>C (p.Leu22751Pro)
c.68051T>C (p.Leu22684Pro)
c.67676T>C (p.Leu22559Pro)
c.94871T>C (p.Leu31624Pro)
c.89948T>C (p.Leu29983Pro)
n.446+22824A>G
n.2043+4099A>G
c.93968T>C (p.Leu31323Pro)
c.67862T>C (p.Leu22621Pro)
c.67721T>C (p.Leu22574Pro)
c.93764T>C (p.Leu31255Pro)
c.89162T>C (p.Leu29721Pro)
c.89159T>C (p.Leu29720Pro)
c.86201T>C (p.Leu28734Pro)
c.67817T>C (p.Leu22606Pro)
c.89312T>C (p.Leu29771Pro)
c.89309T>C (p.Leu29770Pro)
c.88742T>C (p.Leu29581Pro)
c.86084T>C (p.Leu28695Pro)
c.86003T>C (p.Leu28668Pro)
c.67766T>C (p.Leu22589Pro)
c.57620T>C (p.Leu19207Pro)
2g.178546460A>TCA349469262TTN,TTN-AS1c.87167T>A (p.Leu29056Gln)
c.68252T>A (p.Leu22751Gln)
c.68051T>A (p.Leu22684Gln)
c.67676T>A (p.Leu22559Gln)
c.94871T>A (p.Leu31624Gln)
c.89948T>A (p.Leu29983Gln)
n.446+22824A>T
n.2043+4099A>T
c.93968T>A (p.Leu31323Gln)
c.67862T>A (p.Leu22621Gln)
c.67721T>A (p.Leu22574Gln)
c.93764T>A (p.Leu31255Gln)
c.89162T>A (p.Leu29721Gln)
c.89159T>A (p.Leu29720Gln)
c.86201T>A (p.Leu28734Gln)
c.67817T>A (p.Leu22606Gln)
c.89312T>A (p.Leu29771Gln)
c.89309T>A (p.Leu29770Gln)
c.88742T>A (p.Leu29581Gln)
c.86084T>A (p.Leu28695Gln)
c.86003T>A (p.Leu28668Gln)
c.67766T>A (p.Leu22589Gln)
c.57620T>A (p.Leu19207Gln)
2g.178546461G>ACA430242299TTN,TTN-AS1c.87166C>T (p.Leu29056=)
c.68251C>T (p.Leu22751=)
c.68050C>T (p.Leu22684=)
c.67675C>T (p.Leu22559=)
c.94870C>T (p.Leu31624=)
c.89947C>T (p.Leu29983=)
n.446+22825G>A
n.2043+4100G>A
c.93967C>T (p.Leu31323=)
c.67861C>T (p.Leu22621=)
c.67720C>T (p.Leu22574=)
c.93763C>T (p.Leu31255=)
c.89161C>T (p.Leu29721=)
c.89158C>T (p.Leu29720=)
c.86200C>T (p.Leu28734=)
c.67816C>T (p.Leu22606=)
c.89311C>T (p.Leu29771=)
c.89308C>T (p.Leu29770=)
c.88741C>T (p.Leu29581=)
c.86083C>T (p.Leu28695=)
c.86002C>T (p.Leu28668=)
c.67765C>T (p.Leu22589=)
c.57619C>T (p.Leu19207=)
2g.178546461G>CCA349469266TTN,TTN-AS1c.87166C>G (p.Leu29056Val)
c.68251C>G (p.Leu22751Val)
c.68050C>G (p.Leu22684Val)
c.67675C>G (p.Leu22559Val)
c.94870C>G (p.Leu31624Val)
c.89947C>G (p.Leu29983Val)
n.446+22825G>C
n.2043+4100G>C
c.93967C>G (p.Leu31323Val)
c.67861C>G (p.Leu22621Val)
c.67720C>G (p.Leu22574Val)
c.93763C>G (p.Leu31255Val)
c.89161C>G (p.Leu29721Val)
c.89158C>G (p.Leu29720Val)
c.86200C>G (p.Leu28734Val)
c.67816C>G (p.Leu22606Val)
c.89311C>G (p.Leu29771Val)
c.89308C>G (p.Leu29770Val)
c.88741C>G (p.Leu29581Val)
c.86083C>G (p.Leu28695Val)
c.86002C>G (p.Leu28668Val)
c.67765C>G (p.Leu22589Val)
c.57619C>G (p.Leu19207Val)
2g.178546461G>TCA349469284TTN,TTN-AS1c.87166C>A (p.Leu29056Met)
c.68251C>A (p.Leu22751Met)
c.68050C>A (p.Leu22684Met)
c.67675C>A (p.Leu22559Met)
c.94870C>A (p.Leu31624Met)
c.89947C>A (p.Leu29983Met)
n.446+22825G>T
n.2043+4100G>T
c.93967C>A (p.Leu31323Met)
c.67861C>A (p.Leu22621Met)
c.67720C>A (p.Leu22574Met)
c.93763C>A (p.Leu31255Met)
c.89161C>A (p.Leu29721Met)
c.89158C>A (p.Leu29720Met)
c.86200C>A (p.Leu28734Met)
c.67816C>A (p.Leu22606Met)
c.89311C>A (p.Leu29771Met)
c.89308C>A (p.Leu29770Met)
c.88741C>A (p.Leu29581Met)
c.86083C>A (p.Leu28695Met)
c.86002C>A (p.Leu28668Met)
c.67765C>A (p.Leu22589Met)
c.57619C>A (p.Leu19207Met)
2g.178546462A=CA1310523097TTN,TTN-AS1c.87165T= (p.Asp29055=)
c.68250T= (p.Asp22750=)
c.68049T= (p.Asp22683=)
c.67674T= (p.Asp22558=)
c.94869T= (p.Asp31623=)
c.89946T= (p.Asp29982=)
n.446+22826A=
n.2043+4101A=
c.93966T= (p.Asp31322=)
c.67860T= (p.Asp22620=)
c.67719T= (p.Asp22573=)
c.93762T= (p.Asp31254=)
c.89160T= (p.Asp29720=)
c.89157T= (p.Asp29719=)
c.86199T= (p.Asp28733=)
c.67815T= (p.Asp22605=)
c.89310T= (p.Asp29770=)
c.89307T= (p.Asp29769=)
c.88740T= (p.Asp29580=)
c.86082T= (p.Asp28694=)
c.86001T= (p.Asp28667=)
c.67764T= (p.Asp22588=)
c.57618T= (p.Asp19206=)
2g.178546462A>CCA349469287TTN,TTN-AS1c.87165T>G (p.Asp29055Glu)
c.68250T>G (p.Asp22750Glu)
c.68049T>G (p.Asp22683Glu)
c.67674T>G (p.Asp22558Glu)
c.94869T>G (p.Asp31623Glu)
c.89946T>G (p.Asp29982Glu)
n.446+22826A>C
n.2043+4101A>C
c.93966T>G (p.Asp31322Glu)
c.67860T>G (p.Asp22620Glu)
c.67719T>G (p.Asp22573Glu)
c.93762T>G (p.Asp31254Glu)
c.89160T>G (p.Asp29720Glu)
c.89157T>G (p.Asp29719Glu)
c.86199T>G (p.Asp28733Glu)
c.67815T>G (p.Asp22605Glu)
c.89310T>G (p.Asp29770Glu)
c.89307T>G (p.Asp29769Glu)
c.88740T>G (p.Asp29580Glu)
c.86082T>G (p.Asp28694Glu)
c.86001T>G (p.Asp28667Glu)
c.67764T>G (p.Asp22588Glu)
c.57618T>G (p.Asp19206Glu)
2g.178546462A>GCA1987054TTN,TTN-AS1c.87165T>C (p.Asp29055=)
c.68250T>C (p.Asp22750=)
c.68049T>C (p.Asp22683=)
c.67674T>C (p.Asp22558=)
c.94869T>C (p.Asp31623=)
c.89946T>C (p.Asp29982=)
n.446+22826A>G
n.2043+4101A>G
c.93966T>C (p.Asp31322=)
c.67860T>C (p.Asp22620=)
c.67719T>C (p.Asp22573=)
c.93762T>C (p.Asp31254=)
c.89160T>C (p.Asp29720=)
c.89157T>C (p.Asp29719=)
c.86199T>C (p.Asp28733=)
c.67815T>C (p.Asp22605=)
c.89310T>C (p.Asp29770=)
c.89307T>C (p.Asp29769=)
c.88740T>C (p.Asp29580=)
c.86082T>C (p.Asp28694=)
c.86001T>C (p.Asp28667=)
c.67764T>C (p.Asp22588=)
c.57618T>C (p.Asp19206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546462A>TCA349469294TTN,TTN-AS1c.87165T>A (p.Asp29055Glu)
c.68250T>A (p.Asp22750Glu)
c.68049T>A (p.Asp22683Glu)
c.67674T>A (p.Asp22558Glu)
c.94869T>A (p.Asp31623Glu)
c.89946T>A (p.Asp29982Glu)
n.446+22826A>T
n.2043+4101A>T
c.93966T>A (p.Asp31322Glu)
c.67860T>A (p.Asp22620Glu)
c.67719T>A (p.Asp22573Glu)
c.93762T>A (p.Asp31254Glu)
c.89160T>A (p.Asp29720Glu)
c.89157T>A (p.Asp29719Glu)
c.86199T>A (p.Asp28733Glu)
c.67815T>A (p.Asp22605Glu)
c.89310T>A (p.Asp29770Glu)
c.89307T>A (p.Asp29769Glu)
c.88740T>A (p.Asp29580Glu)
c.86082T>A (p.Asp28694Glu)
c.86001T>A (p.Asp28667Glu)
c.67764T>A (p.Asp22588Glu)
c.57618T>A (p.Asp19206Glu)
2g.178546463T>ACA349469298TTN,TTN-AS1c.87164A>T (p.Asp29055Val)
c.68249A>T (p.Asp22750Val)
c.68048A>T (p.Asp22683Val)
c.67673A>T (p.Asp22558Val)
c.94868A>T (p.Asp31623Val)
c.89945A>T (p.Asp29982Val)
n.446+22827T>A
n.2043+4102T>A
c.93965A>T (p.Asp31322Val)
c.67859A>T (p.Asp22620Val)
c.67718A>T (p.Asp22573Val)
c.93761A>T (p.Asp31254Val)
c.89159A>T (p.Asp29720Val)
c.89156A>T (p.Asp29719Val)
c.86198A>T (p.Asp28733Val)
c.67814A>T (p.Asp22605Val)
c.89309A>T (p.Asp29770Val)
c.89306A>T (p.Asp29769Val)
c.88739A>T (p.Asp29580Val)
c.86081A>T (p.Asp28694Val)
c.86000A>T (p.Asp28667Val)
c.67763A>T (p.Asp22588Val)
c.57617A>T (p.Asp19206Val)
2g.178546463T>CCA349469321TTN,TTN-AS1c.87164A>G (p.Asp29055Gly)
c.68249A>G (p.Asp22750Gly)
c.68048A>G (p.Asp22683Gly)
c.67673A>G (p.Asp22558Gly)
c.94868A>G (p.Asp31623Gly)
c.89945A>G (p.Asp29982Gly)
n.446+22827T>C
n.2043+4102T>C
c.93965A>G (p.Asp31322Gly)
c.67859A>G (p.Asp22620Gly)
c.67718A>G (p.Asp22573Gly)
c.93761A>G (p.Asp31254Gly)
c.89159A>G (p.Asp29720Gly)
c.89156A>G (p.Asp29719Gly)
c.86198A>G (p.Asp28733Gly)
c.67814A>G (p.Asp22605Gly)
c.89309A>G (p.Asp29770Gly)
c.89306A>G (p.Asp29769Gly)
c.88739A>G (p.Asp29580Gly)
c.86081A>G (p.Asp28694Gly)
c.86000A>G (p.Asp28667Gly)
c.67763A>G (p.Asp22588Gly)
c.57617A>G (p.Asp19206Gly)
 gnomAD v4
2g.178546463T>GCA349469325TTN,TTN-AS1c.87164A>C (p.Asp29055Ala)
c.68249A>C (p.Asp22750Ala)
c.68048A>C (p.Asp22683Ala)
c.67673A>C (p.Asp22558Ala)
c.94868A>C (p.Asp31623Ala)
c.89945A>C (p.Asp29982Ala)
n.446+22827T>G
n.2043+4102T>G
c.93965A>C (p.Asp31322Ala)
c.67859A>C (p.Asp22620Ala)
c.67718A>C (p.Asp22573Ala)
c.93761A>C (p.Asp31254Ala)
c.89159A>C (p.Asp29720Ala)
c.89156A>C (p.Asp29719Ala)
c.86198A>C (p.Asp28733Ala)
c.67814A>C (p.Asp22605Ala)
c.89309A>C (p.Asp29770Ala)
c.89306A>C (p.Asp29769Ala)
c.88739A>C (p.Asp29580Ala)
c.86081A>C (p.Asp28694Ala)
c.86000A>C (p.Asp28667Ala)
c.67763A>C (p.Asp22588Ala)
c.57617A>C (p.Asp19206Ala)
2g.178546464C>ACA349469347TTN,TTN-AS1c.87163G>T (p.Asp29055Tyr)
c.68248G>T (p.Asp22750Tyr)
c.68047G>T (p.Asp22683Tyr)
c.67672G>T (p.Asp22558Tyr)
c.94867G>T (p.Asp31623Tyr)
c.89944G>T (p.Asp29982Tyr)
n.446+22828C>A
n.2043+4103C>A
c.93964G>T (p.Asp31322Tyr)
c.67858G>T (p.Asp22620Tyr)
c.67717G>T (p.Asp22573Tyr)
c.93760G>T (p.Asp31254Tyr)
c.89158G>T (p.Asp29720Tyr)
c.89155G>T (p.Asp29719Tyr)
c.86197G>T (p.Asp28733Tyr)
c.67813G>T (p.Asp22605Tyr)
c.89308G>T (p.Asp29770Tyr)
c.89305G>T (p.Asp29769Tyr)
c.88738G>T (p.Asp29580Tyr)
c.86080G>T (p.Asp28694Tyr)
c.85999G>T (p.Asp28667Tyr)
c.67762G>T (p.Asp22588Tyr)
c.57616G>T (p.Asp19206Tyr)
2g.178546464C>GCA349469342TTN,TTN-AS1c.87163G>C (p.Asp29055His)
c.68248G>C (p.Asp22750His)
c.68047G>C (p.Asp22683His)
c.67672G>C (p.Asp22558His)
c.94867G>C (p.Asp31623His)
c.89944G>C (p.Asp29982His)
n.446+22828C>G
n.2043+4103C>G
c.93964G>C (p.Asp31322His)
c.67858G>C (p.Asp22620His)
c.67717G>C (p.Asp22573His)
c.93760G>C (p.Asp31254His)
c.89158G>C (p.Asp29720His)
c.89155G>C (p.Asp29719His)
c.86197G>C (p.Asp28733His)
c.67813G>C (p.Asp22605His)
c.89308G>C (p.Asp29770His)
c.89305G>C (p.Asp29769His)
c.88738G>C (p.Asp29580His)
c.86080G>C (p.Asp28694His)
c.85999G>C (p.Asp28667His)
c.67762G>C (p.Asp22588His)
c.57616G>C (p.Asp19206His)
2g.178546464C>TCA349469332TTN,TTN-AS1c.87163G>A (p.Asp29055Asn)
c.68248G>A (p.Asp22750Asn)
c.68047G>A (p.Asp22683Asn)
c.67672G>A (p.Asp22558Asn)
c.94867G>A (p.Asp31623Asn)
c.89944G>A (p.Asp29982Asn)
n.446+22828C>T
n.2043+4103C>T
c.93964G>A (p.Asp31322Asn)
c.67858G>A (p.Asp22620Asn)
c.67717G>A (p.Asp22573Asn)
c.93760G>A (p.Asp31254Asn)
c.89158G>A (p.Asp29720Asn)
c.89155G>A (p.Asp29719Asn)
c.86197G>A (p.Asp28733Asn)
c.67813G>A (p.Asp22605Asn)
c.89308G>A (p.Asp29770Asn)
c.89305G>A (p.Asp29769Asn)
c.88738G>A (p.Asp29580Asn)
c.86080G>A (p.Asp28694Asn)
c.85999G>A (p.Asp28667Asn)
c.67762G>A (p.Asp22588Asn)
c.57616G>A (p.Asp19206Asn)
2g.178546466_178546484delCA2662125890TTN,TTN-AS1c.87145_87163del (p.Asp29049IlefsTer?)
c.68230_68248del (p.Asp22744IlefsTer?)
c.68029_68047del (p.Asp22677IlefsTer?)
c.67654_67672del (p.Asp22552IlefsTer?)
c.94849_94867del (p.Asp31617IlefsTer?)
c.89926_89944del (p.Asp29976IlefsTer?)
n.446+22830_446+22848del
n.2043+4105_2043+4123del
c.93946_93964del (p.Asp31316IlefsTer?)
c.67840_67858del (p.Asp22614IlefsTer?)
c.67699_67717del (p.Asp22567IlefsTer?)
c.93742_93760del (p.Asp31248IlefsTer?)
c.89140_89158del (p.Asp29714IlefsTer?)
c.89137_89155del (p.Asp29713IlefsTer?)
c.86179_86197del (p.Asp28727IlefsTer?)
c.67795_67813del (p.Asp22599IlefsTer?)
c.89290_89308del (p.Asp29764IlefsTer?)
c.89287_89305del (p.Asp29763IlefsTer?)
c.88720_88738del (p.Asp29574IlefsTer?)
c.86062_86080del (p.Asp28688IlefsTer?)
c.85981_85999del (p.Asp28661IlefsTer?)
c.67744_67762del (p.Asp22582IlefsTer?)
c.57598_57616del (p.Asp19200IlefsTer?)
 gnomAD v4
2g.178546465A=CA1310523099TTN,TTN-AS1c.87162T= (p.Gly29054=)
c.68247T= (p.Gly22749=)
c.68046T= (p.Gly22682=)
c.67671T= (p.Gly22557=)
c.94866T= (p.Gly31622=)
c.89943T= (p.Gly29981=)
n.446+22829A=
n.2043+4104A=
c.93963T= (p.Gly31321=)
c.67857T= (p.Gly22619=)
c.67716T= (p.Gly22572=)
c.93759T= (p.Gly31253=)
c.89157T= (p.Gly29719=)
c.89154T= (p.Gly29718=)
c.86196T= (p.Gly28732=)
c.67812T= (p.Gly22604=)
c.89307T= (p.Gly29769=)
c.89304T= (p.Gly29768=)
c.88737T= (p.Gly29579=)
c.86079T= (p.Gly28693=)
c.85998T= (p.Gly28666=)
c.67761T= (p.Gly22587=)
c.57615T= (p.Gly19205=)
2g.178546465A>CCA430242300TTN,TTN-AS1c.87162T>G (p.Gly29054=)
c.68247T>G (p.Gly22749=)
c.68046T>G (p.Gly22682=)
c.67671T>G (p.Gly22557=)
c.94866T>G (p.Gly31622=)
c.89943T>G (p.Gly29981=)
n.446+22829A>C
n.2043+4104A>C
c.93963T>G (p.Gly31321=)
c.67857T>G (p.Gly22619=)
c.67716T>G (p.Gly22572=)
c.93759T>G (p.Gly31253=)
c.89157T>G (p.Gly29719=)
c.89154T>G (p.Gly29718=)
c.86196T>G (p.Gly28732=)
c.67812T>G (p.Gly22604=)
c.89307T>G (p.Gly29769=)
c.89304T>G (p.Gly29768=)
c.88737T>G (p.Gly29579=)
c.86079T>G (p.Gly28693=)
c.85998T>G (p.Gly28666=)
c.67761T>G (p.Gly22587=)
c.57615T>G (p.Gly19205=)
 dbSNP
2g.178546465A>GCA430242301TTN,TTN-AS1c.87162T>C (p.Gly29054=)
c.68247T>C (p.Gly22749=)
c.68046T>C (p.Gly22682=)
c.67671T>C (p.Gly22557=)
c.94866T>C (p.Gly31622=)
c.89943T>C (p.Gly29981=)
n.446+22829A>G
n.2043+4104A>G
c.93963T>C (p.Gly31321=)
c.67857T>C (p.Gly22619=)
c.67716T>C (p.Gly22572=)
c.93759T>C (p.Gly31253=)
c.89157T>C (p.Gly29719=)
c.89154T>C (p.Gly29718=)
c.86196T>C (p.Gly28732=)
c.67812T>C (p.Gly22604=)
c.89307T>C (p.Gly29769=)
c.89304T>C (p.Gly29768=)
c.88737T>C (p.Gly29579=)
c.86079T>C (p.Gly28693=)
c.85998T>C (p.Gly28666=)
c.67761T>C (p.Gly22587=)
c.57615T>C (p.Gly19205=)
2g.178546465A>TCA430242303TTN,TTN-AS1c.87162T>A (p.Gly29054=)
c.68247T>A (p.Gly22749=)
c.68046T>A (p.Gly22682=)
c.67671T>A (p.Gly22557=)
c.94866T>A (p.Gly31622=)
c.89943T>A (p.Gly29981=)
n.446+22829A>T
n.2043+4104A>T
c.93963T>A (p.Gly31321=)
c.67857T>A (p.Gly22619=)
c.67716T>A (p.Gly22572=)
c.93759T>A (p.Gly31253=)
c.89157T>A (p.Gly29719=)
c.89154T>A (p.Gly29718=)
c.86196T>A (p.Gly28732=)
c.67812T>A (p.Gly22604=)
c.89307T>A (p.Gly29769=)
c.89304T>A (p.Gly29768=)
c.88737T>A (p.Gly29579=)
c.86079T>A (p.Gly28693=)
c.85998T>A (p.Gly28666=)
c.67761T>A (p.Gly22587=)
c.57615T>A (p.Gly19205=)
2g.178546466C>ACA349469365TTN,TTN-AS1c.87161G>T (p.Gly29054Val)
c.68246G>T (p.Gly22749Val)
c.68045G>T (p.Gly22682Val)
c.67670G>T (p.Gly22557Val)
c.94865G>T (p.Gly31622Val)
c.89942G>T (p.Gly29981Val)
n.446+22830C>A
n.2043+4105C>A
c.93962G>T (p.Gly31321Val)
c.67856G>T (p.Gly22619Val)
c.67715G>T (p.Gly22572Val)
c.93758G>T (p.Gly31253Val)
c.89156G>T (p.Gly29719Val)
c.89153G>T (p.Gly29718Val)
c.86195G>T (p.Gly28732Val)
c.67811G>T (p.Gly22604Val)
c.89306G>T (p.Gly29769Val)
c.89303G>T (p.Gly29768Val)
c.88736G>T (p.Gly29579Val)
c.86078G>T (p.Gly28693Val)
c.85997G>T (p.Gly28666Val)
c.67760G>T (p.Gly22587Val)
c.57614G>T (p.Gly19205Val)
2g.178546466C>GCA349469369TTN,TTN-AS1c.87161G>C (p.Gly29054Ala)
c.68246G>C (p.Gly22749Ala)
c.68045G>C (p.Gly22682Ala)
c.67670G>C (p.Gly22557Ala)
c.94865G>C (p.Gly31622Ala)
c.89942G>C (p.Gly29981Ala)
n.446+22830C>G
n.2043+4105C>G
c.93962G>C (p.Gly31321Ala)
c.67856G>C (p.Gly22619Ala)
c.67715G>C (p.Gly22572Ala)
c.93758G>C (p.Gly31253Ala)
c.89156G>C (p.Gly29719Ala)
c.89153G>C (p.Gly29718Ala)
c.86195G>C (p.Gly28732Ala)
c.67811G>C (p.Gly22604Ala)
c.89306G>C (p.Gly29769Ala)
c.89303G>C (p.Gly29768Ala)
c.88736G>C (p.Gly29579Ala)
c.86078G>C (p.Gly28693Ala)
c.85997G>C (p.Gly28666Ala)
c.67760G>C (p.Gly22587Ala)
c.57614G>C (p.Gly19205Ala)
2g.178546466C>TCA349469374TTN,TTN-AS1c.87161G>A (p.Gly29054Asp)
c.68246G>A (p.Gly22749Asp)
c.68045G>A (p.Gly22682Asp)
c.67670G>A (p.Gly22557Asp)
c.94865G>A (p.Gly31622Asp)
c.89942G>A (p.Gly29981Asp)
n.446+22830C>T
n.2043+4105C>T
c.93962G>A (p.Gly31321Asp)
c.67856G>A (p.Gly22619Asp)
c.67715G>A (p.Gly22572Asp)
c.93758G>A (p.Gly31253Asp)
c.89156G>A (p.Gly29719Asp)
c.89153G>A (p.Gly29718Asp)
c.86195G>A (p.Gly28732Asp)
c.67811G>A (p.Gly22604Asp)
c.89306G>A (p.Gly29769Asp)
c.89303G>A (p.Gly29768Asp)
c.88736G>A (p.Gly29579Asp)
c.86078G>A (p.Gly28693Asp)
c.85997G>A (p.Gly28666Asp)
c.67760G>A (p.Gly22587Asp)
c.57614G>A (p.Gly19205Asp)
 gnomAD v4
2g.178546467C>ACA349469376TTN,TTN-AS1c.87160G>T (p.Gly29054Cys)
c.68245G>T (p.Gly22749Cys)
c.68044G>T (p.Gly22682Cys)
c.67669G>T (p.Gly22557Cys)
c.94864G>T (p.Gly31622Cys)
c.89941G>T (p.Gly29981Cys)
n.446+22831C>A
n.2043+4106C>A
c.93961G>T (p.Gly31321Cys)
c.67855G>T (p.Gly22619Cys)
c.67714G>T (p.Gly22572Cys)
c.93757G>T (p.Gly31253Cys)
c.89155G>T (p.Gly29719Cys)
c.89152G>T (p.Gly29718Cys)
c.86194G>T (p.Gly28732Cys)
c.67810G>T (p.Gly22604Cys)
c.89305G>T (p.Gly29769Cys)
c.89302G>T (p.Gly29768Cys)
c.88735G>T (p.Gly29579Cys)
c.86077G>T (p.Gly28693Cys)
c.85996G>T (p.Gly28666Cys)
c.67759G>T (p.Gly22587Cys)
c.57613G>T (p.Gly19205Cys)
2g.178546467C=CA1310523102TTN,TTN-AS1c.87160G= (p.Gly29054=)
c.68245G= (p.Gly22749=)
c.68044G= (p.Gly22682=)
c.67669G= (p.Gly22557=)
c.94864G= (p.Gly31622=)
c.89941G= (p.Gly29981=)
n.446+22831C=
n.2043+4106C=
c.93961G= (p.Gly31321=)
c.67855G= (p.Gly22619=)
c.67714G= (p.Gly22572=)
c.93757G= (p.Gly31253=)
c.89155G= (p.Gly29719=)
c.89152G= (p.Gly29718=)
c.86194G= (p.Gly28732=)
c.67810G= (p.Gly22604=)
c.89305G= (p.Gly29769=)
c.89302G= (p.Gly29768=)
c.88735G= (p.Gly29579=)
c.86077G= (p.Gly28693=)
c.85996G= (p.Gly28666=)
c.67759G= (p.Gly22587=)
c.57613G= (p.Gly19205=)
2g.178546467C>GCA349469382TTN,TTN-AS1c.87160G>C (p.Gly29054Arg)
c.68245G>C (p.Gly22749Arg)
c.68044G>C (p.Gly22682Arg)
c.67669G>C (p.Gly22557Arg)
c.94864G>C (p.Gly31622Arg)
c.89941G>C (p.Gly29981Arg)
n.446+22831C>G
n.2043+4106C>G
c.93961G>C (p.Gly31321Arg)
c.67855G>C (p.Gly22619Arg)
c.67714G>C (p.Gly22572Arg)
c.93757G>C (p.Gly31253Arg)
c.89155G>C (p.Gly29719Arg)
c.89152G>C (p.Gly29718Arg)
c.86194G>C (p.Gly28732Arg)
c.67810G>C (p.Gly22604Arg)
c.89305G>C (p.Gly29769Arg)
c.89302G>C (p.Gly29768Arg)
c.88735G>C (p.Gly29579Arg)
c.86077G>C (p.Gly28693Arg)
c.85996G>C (p.Gly28666Arg)
c.67759G>C (p.Gly22587Arg)
c.57613G>C (p.Gly19205Arg)
2g.178546467C>TCA349469384TTN,TTN-AS1c.87160G>A (p.Gly29054Ser)
c.68245G>A (p.Gly22749Ser)
c.68044G>A (p.Gly22682Ser)
c.67669G>A (p.Gly22557Ser)
c.94864G>A (p.Gly31622Ser)
c.89941G>A (p.Gly29981Ser)
n.446+22831C>T
n.2043+4106C>T
c.93961G>A (p.Gly31321Ser)
c.67855G>A (p.Gly22619Ser)
c.67714G>A (p.Gly22572Ser)
c.93757G>A (p.Gly31253Ser)
c.89155G>A (p.Gly29719Ser)
c.89152G>A (p.Gly29718Ser)
c.86194G>A (p.Gly28732Ser)
c.67810G>A (p.Gly22604Ser)
c.89305G>A (p.Gly29769Ser)
c.89302G>A (p.Gly29768Ser)
c.88735G>A (p.Gly29579Ser)
c.86077G>A (p.Gly28693Ser)
c.85996G>A (p.Gly28666Ser)
c.67759G>A (p.Gly22587Ser)
c.57613G>A (p.Gly19205Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546468G>ACA295527TTN,TTN-AS1c.87159C>T (p.His29053=)
c.68244C>T (p.His22748=)
c.68043C>T (p.His22681=)
c.67668C>T (p.His22556=)
c.94863C>T (p.His31621=)
c.89940C>T (p.His29980=)
n.446+22832G>A
n.2043+4107G>A
c.93960C>T (p.His31320=)
c.67854C>T (p.His22618=)
c.67713C>T (p.His22571=)
c.93756C>T (p.His31252=)
c.89154C>T (p.His29718=)
c.89151C>T (p.His29717=)
c.86193C>T (p.His28731=)
c.67809C>T (p.His22603=)
c.89304C>T (p.His29768=)
c.89301C>T (p.His29767=)
c.88734C>T (p.His29578=)
c.86076C>T (p.His28692=)
c.85995C>T (p.His28665=)
c.67758C>T (p.His22586=)
c.57612C>T (p.His19204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546468G>CCA349469397TTN,TTN-AS1c.87159C>G (p.His29053Gln)
c.68244C>G (p.His22748Gln)
c.68043C>G (p.His22681Gln)
c.67668C>G (p.His22556Gln)
c.94863C>G (p.His31621Gln)
c.89940C>G (p.His29980Gln)
n.446+22832G>C
n.2043+4107G>C
c.93960C>G (p.His31320Gln)
c.67854C>G (p.His22618Gln)
c.67713C>G (p.His22571Gln)
c.93756C>G (p.His31252Gln)
c.89154C>G (p.His29718Gln)
c.89151C>G (p.His29717Gln)
c.86193C>G (p.His28731Gln)
c.67809C>G (p.His22603Gln)
c.89304C>G (p.His29768Gln)
c.89301C>G (p.His29767Gln)
c.88734C>G (p.His29578Gln)
c.86076C>G (p.His28692Gln)
c.85995C>G (p.His28665Gln)
c.67758C>G (p.His22586Gln)
c.57612C>G (p.His19204Gln)
2g.178546468G=CA1310523104TTN,TTN-AS1c.87159C= (p.His29053=)
c.68244C= (p.His22748=)
c.68043C= (p.His22681=)
c.67668C= (p.His22556=)
c.94863C= (p.His31621=)
c.89940C= (p.His29980=)
n.446+22832G=
n.2043+4107G=
c.93960C= (p.His31320=)
c.67854C= (p.His22618=)
c.67713C= (p.His22571=)
c.93756C= (p.His31252=)
c.89154C= (p.His29718=)
c.89151C= (p.His29717=)
c.86193C= (p.His28731=)
c.67809C= (p.His22603=)
c.89304C= (p.His29768=)
c.89301C= (p.His29767=)
c.88734C= (p.His29578=)
c.86076C= (p.His28692=)
c.85995C= (p.His28665=)
c.67758C= (p.His22586=)
c.57612C= (p.His19204=)
2g.178546468G>TCA349469398TTN,TTN-AS1c.87159C>A (p.His29053Gln)
c.68244C>A (p.His22748Gln)
c.68043C>A (p.His22681Gln)
c.67668C>A (p.His22556Gln)
c.94863C>A (p.His31621Gln)
c.89940C>A (p.His29980Gln)
n.446+22832G>T
n.2043+4107G>T
c.93960C>A (p.His31320Gln)
c.67854C>A (p.His22618Gln)
c.67713C>A (p.His22571Gln)
c.93756C>A (p.His31252Gln)
c.89154C>A (p.His29718Gln)
c.89151C>A (p.His29717Gln)
c.86193C>A (p.His28731Gln)
c.67809C>A (p.His22603Gln)
c.89304C>A (p.His29768Gln)
c.89301C>A (p.His29767Gln)
c.88734C>A (p.His29578Gln)
c.86076C>A (p.His28692Gln)
c.85995C>A (p.His28665Gln)
c.67758C>A (p.His22586Gln)
c.57612C>A (p.His19204Gln)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178546469T>ACA349469399TTN,TTN-AS1c.87158A>T (p.His29053Leu)
c.68243A>T (p.His22748Leu)
c.68042A>T (p.His22681Leu)
c.67667A>T (p.His22556Leu)
c.94862A>T (p.His31621Leu)
c.89939A>T (p.His29980Leu)
n.446+22833T>A
n.2043+4108T>A
c.93959A>T (p.His31320Leu)
c.67853A>T (p.His22618Leu)
c.67712A>T (p.His22571Leu)
c.93755A>T (p.His31252Leu)
c.89153A>T (p.His29718Leu)
c.89150A>T (p.His29717Leu)
c.86192A>T (p.His28731Leu)
c.67808A>T (p.His22603Leu)
c.89303A>T (p.His29768Leu)
c.89300A>T (p.His29767Leu)
c.88733A>T (p.His29578Leu)
c.86075A>T (p.His28692Leu)
c.85994A>T (p.His28665Leu)
c.67757A>T (p.His22586Leu)
c.57611A>T (p.His19204Leu)
2g.178546469T>CCA349469400TTN,TTN-AS1c.87158A>G (p.His29053Arg)
c.68243A>G (p.His22748Arg)
c.68042A>G (p.His22681Arg)
c.67667A>G (p.His22556Arg)
c.94862A>G (p.His31621Arg)
c.89939A>G (p.His29980Arg)
n.446+22833T>C
n.2043+4108T>C
c.93959A>G (p.His31320Arg)
c.67853A>G (p.His22618Arg)
c.67712A>G (p.His22571Arg)
c.93755A>G (p.His31252Arg)
c.89153A>G (p.His29718Arg)
c.89150A>G (p.His29717Arg)
c.86192A>G (p.His28731Arg)
c.67808A>G (p.His22603Arg)
c.89303A>G (p.His29768Arg)
c.89300A>G (p.His29767Arg)
c.88733A>G (p.His29578Arg)
c.86075A>G (p.His28692Arg)
c.85994A>G (p.His28665Arg)
c.67757A>G (p.His22586Arg)
c.57611A>G (p.His19204Arg)
2g.178546469T>GCA349469403TTN,TTN-AS1c.87158A>C (p.His29053Pro)
c.68243A>C (p.His22748Pro)
c.68042A>C (p.His22681Pro)
c.67667A>C (p.His22556Pro)
c.94862A>C (p.His31621Pro)
c.89939A>C (p.His29980Pro)
n.446+22833T>G
n.2043+4108T>G
c.93959A>C (p.His31320Pro)
c.67853A>C (p.His22618Pro)
c.67712A>C (p.His22571Pro)
c.93755A>C (p.His31252Pro)
c.89153A>C (p.His29718Pro)
c.89150A>C (p.His29717Pro)
c.86192A>C (p.His28731Pro)
c.67808A>C (p.His22603Pro)
c.89303A>C (p.His29768Pro)
c.89300A>C (p.His29767Pro)
c.88733A>C (p.His29578Pro)
c.86075A>C (p.His28692Pro)
c.85994A>C (p.His28665Pro)
c.67757A>C (p.His22586Pro)
c.57611A>C (p.His19204Pro)
2g.178546470G>ACA349469431TTN,TTN-AS1c.87157C>T (p.His29053Tyr)
c.68242C>T (p.His22748Tyr)
c.68041C>T (p.His22681Tyr)
c.67666C>T (p.His22556Tyr)
c.94861C>T (p.His31621Tyr)
c.89938C>T (p.His29980Tyr)
n.446+22834G>A
n.2043+4109G>A
c.93958C>T (p.His31320Tyr)
c.67852C>T (p.His22618Tyr)
c.67711C>T (p.His22571Tyr)
c.93754C>T (p.His31252Tyr)
c.89152C>T (p.His29718Tyr)
c.89149C>T (p.His29717Tyr)
c.86191C>T (p.His28731Tyr)
c.67807C>T (p.His22603Tyr)
c.89302C>T (p.His29768Tyr)
c.89299C>T (p.His29767Tyr)
c.88732C>T (p.His29578Tyr)
c.86074C>T (p.His28692Tyr)
c.85993C>T (p.His28665Tyr)
c.67756C>T (p.His22586Tyr)
c.57610C>T (p.His19204Tyr)
2g.178546470G>CCA349469412TTN,TTN-AS1c.87157C>G (p.His29053Asp)
c.68242C>G (p.His22748Asp)
c.68041C>G (p.His22681Asp)
c.67666C>G (p.His22556Asp)
c.94861C>G (p.His31621Asp)
c.89938C>G (p.His29980Asp)
n.446+22834G>C
n.2043+4109G>C
c.93958C>G (p.His31320Asp)
c.67852C>G (p.His22618Asp)
c.67711C>G (p.His22571Asp)
c.93754C>G (p.His31252Asp)
c.89152C>G (p.His29718Asp)
c.89149C>G (p.His29717Asp)
c.86191C>G (p.His28731Asp)
c.67807C>G (p.His22603Asp)
c.89302C>G (p.His29768Asp)
c.89299C>G (p.His29767Asp)
c.88732C>G (p.His29578Asp)
c.86074C>G (p.His28692Asp)
c.85993C>G (p.His28665Asp)
c.67756C>G (p.His22586Asp)
c.57610C>G (p.His19204Asp)
2g.178546470G>TCA349469406TTN,TTN-AS1c.87157C>A (p.His29053Asn)
c.68242C>A (p.His22748Asn)
c.68041C>A (p.His22681Asn)
c.67666C>A (p.His22556Asn)
c.94861C>A (p.His31621Asn)
c.89938C>A (p.His29980Asn)
n.446+22834G>T
n.2043+4109G>T
c.93958C>A (p.His31320Asn)
c.67852C>A (p.His22618Asn)
c.67711C>A (p.His22571Asn)
c.93754C>A (p.His31252Asn)
c.89152C>A (p.His29718Asn)
c.89149C>A (p.His29717Asn)
c.86191C>A (p.His28731Asn)
c.67807C>A (p.His22603Asn)
c.89302C>A (p.His29768Asn)
c.89299C>A (p.His29767Asn)
c.88732C>A (p.His29578Asn)
c.86074C>A (p.His28692Asn)
c.85993C>A (p.His28665Asn)
c.67756C>A (p.His22586Asn)
c.57610C>A (p.His19204Asn)
2g.178546471T>ACA349469437TTN,TTN-AS1c.87156A>T (p.Leu29052Phe)
c.68241A>T (p.Leu22747Phe)
c.68040A>T (p.Leu22680Phe)
c.67665A>T (p.Leu22555Phe)
c.94860A>T (p.Leu31620Phe)
c.89937A>T (p.Leu29979Phe)
n.446+22835T>A
n.2043+4110T>A
c.93957A>T (p.Leu31319Phe)
c.67851A>T (p.Leu22617Phe)
c.67710A>T (p.Leu22570Phe)
c.93753A>T (p.Leu31251Phe)
c.89151A>T (p.Leu29717Phe)
c.89148A>T (p.Leu29716Phe)
c.86190A>T (p.Leu28730Phe)
c.67806A>T (p.Leu22602Phe)
c.89301A>T (p.Leu29767Phe)
c.89298A>T (p.Leu29766Phe)
c.88731A>T (p.Leu29577Phe)
c.86073A>T (p.Leu28691Phe)
c.85992A>T (p.Leu28664Phe)
c.67755A>T (p.Leu22585Phe)
c.57609A>T (p.Leu19203Phe)
2g.178546471T>CCA430242307TTN,TTN-AS1c.87156A>G (p.Leu29052=)
c.68241A>G (p.Leu22747=)
c.68040A>G (p.Leu22680=)
c.67665A>G (p.Leu22555=)
c.94860A>G (p.Leu31620=)
c.89937A>G (p.Leu29979=)
n.446+22835T>C
n.2043+4110T>C
c.93957A>G (p.Leu31319=)
c.67851A>G (p.Leu22617=)
c.67710A>G (p.Leu22570=)
c.93753A>G (p.Leu31251=)
c.89151A>G (p.Leu29717=)
c.89148A>G (p.Leu29716=)
c.86190A>G (p.Leu28730=)
c.67806A>G (p.Leu22602=)
c.89301A>G (p.Leu29767=)
c.89298A>G (p.Leu29766=)
c.88731A>G (p.Leu29577=)
c.86073A>G (p.Leu28691=)
c.85992A>G (p.Leu28664=)
c.67755A>G (p.Leu22585=)
c.57609A>G (p.Leu19203=)
2g.178546471T>GCA349469441TTN,TTN-AS1c.87156A>C (p.Leu29052Phe)
c.68241A>C (p.Leu22747Phe)
c.68040A>C (p.Leu22680Phe)
c.67665A>C (p.Leu22555Phe)
c.94860A>C (p.Leu31620Phe)
c.89937A>C (p.Leu29979Phe)
n.446+22835T>G
n.2043+4110T>G
c.93957A>C (p.Leu31319Phe)
c.67851A>C (p.Leu22617Phe)
c.67710A>C (p.Leu22570Phe)
c.93753A>C (p.Leu31251Phe)
c.89151A>C (p.Leu29717Phe)
c.89148A>C (p.Leu29716Phe)
c.86190A>C (p.Leu28730Phe)
c.67806A>C (p.Leu22602Phe)
c.89301A>C (p.Leu29767Phe)
c.89298A>C (p.Leu29766Phe)
c.88731A>C (p.Leu29577Phe)
c.86073A>C (p.Leu28691Phe)
c.85992A>C (p.Leu28664Phe)
c.67755A>C (p.Leu22585Phe)
c.57609A>C (p.Leu19203Phe)
2g.178546472A=CA1310523106TTN,TTN-AS1c.87155T= (p.Leu29052=)
c.68240T= (p.Leu22747=)
c.68039T= (p.Leu22680=)
c.67664T= (p.Leu22555=)
c.94859T= (p.Leu31620=)
c.89936T= (p.Leu29979=)
n.446+22836A=
n.2043+4111A=
c.93956T= (p.Leu31319=)
c.67850T= (p.Leu22617=)
c.67709T= (p.Leu22570=)
c.93752T= (p.Leu31251=)
c.89150T= (p.Leu29717=)
c.89147T= (p.Leu29716=)
c.86189T= (p.Leu28730=)
c.67805T= (p.Leu22602=)
c.89300T= (p.Leu29767=)
c.89297T= (p.Leu29766=)
c.88730T= (p.Leu29577=)
c.86072T= (p.Leu28691=)
c.85991T= (p.Leu28664=)
c.67754T= (p.Leu22585=)
c.57608T= (p.Leu19203=)
2g.178546472A>CCA1987055TTN,TTN-AS1c.87155T>G (p.Leu29052Ter)
c.68240T>G (p.Leu22747Ter)
c.68039T>G (p.Leu22680Ter)
c.67664T>G (p.Leu22555Ter)
c.94859T>G (p.Leu31620Ter)
c.89936T>G (p.Leu29979Ter)
n.446+22836A>C
n.2043+4111A>C
c.93956T>G (p.Leu31319Ter)
c.67850T>G (p.Leu22617Ter)
c.67709T>G (p.Leu22570Ter)
c.93752T>G (p.Leu31251Ter)
c.89150T>G (p.Leu29717Ter)
c.89147T>G (p.Leu29716Ter)
c.86189T>G (p.Leu28730Ter)
c.67805T>G (p.Leu22602Ter)
c.89300T>G (p.Leu29767Ter)
c.89297T>G (p.Leu29766Ter)
c.88730T>G (p.Leu29577Ter)
c.86072T>G (p.Leu28691Ter)
c.85991T>G (p.Leu28664Ter)
c.67754T>G (p.Leu22585Ter)
c.57608T>G (p.Leu19203Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546472A>GCA349469452TTN,TTN-AS1c.87155T>C (p.Leu29052Ser)
c.68240T>C (p.Leu22747Ser)
c.68039T>C (p.Leu22680Ser)
c.67664T>C (p.Leu22555Ser)
c.94859T>C (p.Leu31620Ser)
c.89936T>C (p.Leu29979Ser)
n.446+22836A>G
n.2043+4111A>G
c.93956T>C (p.Leu31319Ser)
c.67850T>C (p.Leu22617Ser)
c.67709T>C (p.Leu22570Ser)
c.93752T>C (p.Leu31251Ser)
c.89150T>C (p.Leu29717Ser)
c.89147T>C (p.Leu29716Ser)
c.86189T>C (p.Leu28730Ser)
c.67805T>C (p.Leu22602Ser)
c.89300T>C (p.Leu29767Ser)
c.89297T>C (p.Leu29766Ser)
c.88730T>C (p.Leu29577Ser)
c.86072T>C (p.Leu28691Ser)
c.85991T>C (p.Leu28664Ser)
c.67754T>C (p.Leu22585Ser)
c.57608T>C (p.Leu19203Ser)
 dbSNP
2g.178546472A>TCA349469457TTN,TTN-AS1c.87155T>A (p.Leu29052Ter)
c.68240T>A (p.Leu22747Ter)
c.68039T>A (p.Leu22680Ter)
c.67664T>A (p.Leu22555Ter)
c.94859T>A (p.Leu31620Ter)
c.89936T>A (p.Leu29979Ter)
n.446+22836A>T
n.2043+4111A>T
c.93956T>A (p.Leu31319Ter)
c.67850T>A (p.Leu22617Ter)
c.67709T>A (p.Leu22570Ter)
c.93752T>A (p.Leu31251Ter)
c.89150T>A (p.Leu29717Ter)
c.89147T>A (p.Leu29716Ter)
c.86189T>A (p.Leu28730Ter)
c.67805T>A (p.Leu22602Ter)
c.89300T>A (p.Leu29767Ter)
c.89297T>A (p.Leu29766Ter)
c.88730T>A (p.Leu29577Ter)
c.86072T>A (p.Leu28691Ter)
c.85991T>A (p.Leu28664Ter)
c.67754T>A (p.Leu22585Ter)
c.57608T>A (p.Leu19203Ter)
2g.178546472_178546479delinsAATCGGGCCA1310523107TTN,TTN-AS1c.87148_87155delinsGCCCGATT (p.Ala29050=)
c.68233_68240delinsGCCCGATT (p.Ala22745=)
c.68032_68039delinsGCCCGATT (p.Ala22678=)
c.67657_67664delinsGCCCGATT (p.Ala22553=)
c.94852_94859delinsGCCCGATT (p.Ala31618=)
c.89929_89936delinsGCCCGATT (p.Ala29977=)
n.446+22836_446+22843delinsAATCGGGC
n.2043+4111_2043+4118delinsAATCGGGC
c.93949_93956delinsGCCCGATT (p.Ala31317=)
c.67843_67850delinsGCCCGATT (p.Ala22615=)
c.67702_67709delinsGCCCGATT (p.Ala22568=)
c.93745_93752delinsGCCCGATT (p.Ala31249=)
c.89143_89150delinsGCCCGATT (p.Ala29715=)
c.89140_89147delinsGCCCGATT (p.Ala29714=)
c.86182_86189delinsGCCCGATT (p.Ala28728=)
c.67798_67805delinsGCCCGATT (p.Ala22600=)
c.89293_89300delinsGCCCGATT (p.Ala29765=)
c.89290_89297delinsGCCCGATT (p.Ala29764=)
c.88723_88730delinsGCCCGATT (p.Ala29575=)
c.86065_86072delinsGCCCGATT (p.Ala28689=)
c.85984_85991delinsGCCCGATT (p.Ala28662=)
c.67747_67754delinsGCCCGATT (p.Ala22583=)
c.57601_57608delinsGCCCGATT (p.Ala19201=)
2g.178546473A>CCA349469463TTN,TTN-AS1c.87154T>G (p.Leu29052Val)
c.68239T>G (p.Leu22747Val)
c.68038T>G (p.Leu22680Val)
c.67663T>G (p.Leu22555Val)
c.94858T>G (p.Leu31620Val)
c.89935T>G (p.Leu29979Val)
n.446+22837A>C
n.2043+4112A>C
c.93955T>G (p.Leu31319Val)
c.67849T>G (p.Leu22617Val)
c.67708T>G (p.Leu22570Val)
c.93751T>G (p.Leu31251Val)
c.89149T>G (p.Leu29717Val)
c.89146T>G (p.Leu29716Val)
c.86188T>G (p.Leu28730Val)
c.67804T>G (p.Leu22602Val)
c.89299T>G (p.Leu29767Val)
c.89296T>G (p.Leu29766Val)
c.88729T>G (p.Leu29577Val)
c.86071T>G (p.Leu28691Val)
c.85990T>G (p.Leu28664Val)
c.67753T>G (p.Leu22585Val)
c.57607T>G (p.Leu19203Val)
2g.178546473A>GCA430242309TTN,TTN-AS1c.87154T>C (p.Leu29052=)
c.68239T>C (p.Leu22747=)
c.68038T>C (p.Leu22680=)
c.67663T>C (p.Leu22555=)
c.94858T>C (p.Leu31620=)
c.89935T>C (p.Leu29979=)
n.446+22837A>G
n.2043+4112A>G
c.93955T>C (p.Leu31319=)
c.67849T>C (p.Leu22617=)
c.67708T>C (p.Leu22570=)
c.93751T>C (p.Leu31251=)
c.89149T>C (p.Leu29717=)
c.89146T>C (p.Leu29716=)
c.86188T>C (p.Leu28730=)
c.67804T>C (p.Leu22602=)
c.89299T>C (p.Leu29767=)
c.89296T>C (p.Leu29766=)
c.88729T>C (p.Leu29577=)
c.86071T>C (p.Leu28691=)
c.85990T>C (p.Leu28664=)
c.67753T>C (p.Leu22585=)
c.57607T>C (p.Leu19203=)
2g.178546473A>TCA349469465TTN,TTN-AS1c.87154T>A (p.Leu29052Ile)
c.68239T>A (p.Leu22747Ile)
c.68038T>A (p.Leu22680Ile)
c.67663T>A (p.Leu22555Ile)
c.94858T>A (p.Leu31620Ile)
c.89935T>A (p.Leu29979Ile)
n.446+22837A>T
n.2043+4112A>T
c.93955T>A (p.Leu31319Ile)
c.67849T>A (p.Leu22617Ile)
c.67708T>A (p.Leu22570Ile)
c.93751T>A (p.Leu31251Ile)
c.89149T>A (p.Leu29717Ile)
c.89146T>A (p.Leu29716Ile)
c.86188T>A (p.Leu28730Ile)
c.67804T>A (p.Leu22602Ile)
c.89299T>A (p.Leu29767Ile)
c.89296T>A (p.Leu29766Ile)
c.88729T>A (p.Leu29577Ile)
c.86071T>A (p.Leu28691Ile)
c.85990T>A (p.Leu28664Ile)
c.67753T>A (p.Leu22585Ile)
c.57607T>A (p.Leu19203Ile)
2g.178546476_178546482delCA353038TTN,TTN-AS1c.87148_87154del (p.Ala29050TyrfsTer?)
c.68233_68239del (p.Ala22745TyrfsTer?)
c.68032_68038del (p.Ala22678TyrfsTer?)
c.67657_67663del (p.Ala22553TyrfsTer?)
c.94852_94858del (p.Ala31618TyrfsTer?)
c.89929_89935del (p.Ala29977TyrfsTer?)
n.446+22840_446+22846del
n.2043+4115_2043+4121del
c.93949_93955del (p.Ala31317TyrfsTer?)
c.67843_67849del (p.Ala22615TyrfsTer?)
c.67702_67708del (p.Ala22568TyrfsTer?)
c.93745_93751del (p.Ala31249TyrfsTer?)
c.89143_89149del (p.Ala29715TyrfsTer?)
c.89140_89146del (p.Ala29714TyrfsTer?)
c.86182_86188del (p.Ala28728TyrfsTer?)
c.67798_67804del (p.Ala22600TyrfsTer?)
c.89293_89299del (p.Ala29765TyrfsTer?)
c.89290_89296del (p.Ala29764TyrfsTer?)
c.88723_88729del (p.Ala29575TyrfsTer?)
c.86065_86071del (p.Ala28689TyrfsTer?)
c.85984_85990del (p.Ala28662TyrfsTer?)
c.67747_67753del (p.Ala22583TyrfsTer?)
c.57601_57607del (p.Ala19201TyrfsTer?)
 ClinVar dbSNP
2g.178546474T>ACA430242311TTN,TTN-AS1c.87153A>T (p.Arg29051=)
c.68238A>T (p.Arg22746=)
c.68037A>T (p.Arg22679=)
c.67662A>T (p.Arg22554=)
c.94857A>T (p.Arg31619=)
c.89934A>T (p.Arg29978=)
n.446+22838T>A
n.2043+4113T>A
c.93954A>T (p.Arg31318=)
c.67848A>T (p.Arg22616=)
c.67707A>T (p.Arg22569=)
c.93750A>T (p.Arg31250=)
c.89148A>T (p.Arg29716=)
c.89145A>T (p.Arg29715=)
c.86187A>T (p.Arg28729=)
c.67803A>T (p.Arg22601=)
c.89298A>T (p.Arg29766=)
c.89295A>T (p.Arg29765=)
c.88728A>T (p.Arg29576=)
c.86070A>T (p.Arg28690=)
c.85989A>T (p.Arg28663=)
c.67752A>T (p.Arg22584=)
c.57606A>T (p.Arg19202=)
2g.178546474T>CCA430242312TTN,TTN-AS1c.87153A>G (p.Arg29051=)
c.68238A>G (p.Arg22746=)
c.68037A>G (p.Arg22679=)
c.67662A>G (p.Arg22554=)
c.94857A>G (p.Arg31619=)
c.89934A>G (p.Arg29978=)
n.446+22838T>C
n.2043+4113T>C
c.93954A>G (p.Arg31318=)
c.67848A>G (p.Arg22616=)
c.67707A>G (p.Arg22569=)
c.93750A>G (p.Arg31250=)
c.89148A>G (p.Arg29716=)
c.89145A>G (p.Arg29715=)
c.86187A>G (p.Arg28729=)
c.67803A>G (p.Arg22601=)
c.89298A>G (p.Arg29766=)
c.89295A>G (p.Arg29765=)
c.88728A>G (p.Arg29576=)
c.86070A>G (p.Arg28690=)
c.85989A>G (p.Arg28663=)
c.67752A>G (p.Arg22584=)
c.57606A>G (p.Arg19202=)
 gnomAD v4
2g.178546474T>GCA430242313TTN,TTN-AS1c.87153A>C (p.Arg29051=)
c.68238A>C (p.Arg22746=)
c.68037A>C (p.Arg22679=)
c.67662A>C (p.Arg22554=)
c.94857A>C (p.Arg31619=)
c.89934A>C (p.Arg29978=)
n.446+22838T>G
n.2043+4113T>G
c.93954A>C (p.Arg31318=)
c.67848A>C (p.Arg22616=)
c.67707A>C (p.Arg22569=)
c.93750A>C (p.Arg31250=)
c.89148A>C (p.Arg29716=)
c.89145A>C (p.Arg29715=)
c.86187A>C (p.Arg28729=)
c.67803A>C (p.Arg22601=)
c.89298A>C (p.Arg29766=)
c.89295A>C (p.Arg29765=)
c.88728A>C (p.Arg29576=)
c.86070A>C (p.Arg28690=)
c.85989A>C (p.Arg28663=)
c.67752A>C (p.Arg22584=)
c.57606A>C (p.Arg19202=)
2g.178546475C>ACA349469474TTN,TTN-AS1c.87152G>T (p.Arg29051Leu)
c.68237G>T (p.Arg22746Leu)
c.68036G>T (p.Arg22679Leu)
c.67661G>T (p.Arg22554Leu)
c.94856G>T (p.Arg31619Leu)
c.89933G>T (p.Arg29978Leu)
n.446+22839C>A
n.2043+4114C>A
c.93953G>T (p.Arg31318Leu)
c.67847G>T (p.Arg22616Leu)
c.67706G>T (p.Arg22569Leu)
c.93749G>T (p.Arg31250Leu)
c.89147G>T (p.Arg29716Leu)
c.89144G>T (p.Arg29715Leu)
c.86186G>T (p.Arg28729Leu)
c.67802G>T (p.Arg22601Leu)
c.89297G>T (p.Arg29766Leu)
c.89294G>T (p.Arg29765Leu)
c.88727G>T (p.Arg29576Leu)
c.86069G>T (p.Arg28690Leu)
c.85988G>T (p.Arg28663Leu)
c.67751G>T (p.Arg22584Leu)
c.57605G>T (p.Arg19202Leu)
2g.178546475C=CA1310523111TTN,TTN-AS1c.87152G= (p.Arg29051=)
c.68237G= (p.Arg22746=)
c.68036G= (p.Arg22679=)
c.67661G= (p.Arg22554=)
c.94856G= (p.Arg31619=)
c.89933G= (p.Arg29978=)
n.446+22839C=
n.2043+4114C=
c.93953G= (p.Arg31318=)
c.67847G= (p.Arg22616=)
c.67706G= (p.Arg22569=)
c.93749G= (p.Arg31250=)
c.89147G= (p.Arg29716=)
c.89144G= (p.Arg29715=)
c.86186G= (p.Arg28729=)
c.67802G= (p.Arg22601=)
c.89297G= (p.Arg29766=)
c.89294G= (p.Arg29765=)
c.88727G= (p.Arg29576=)
c.86069G= (p.Arg28690=)
c.85988G= (p.Arg28663=)
c.67751G= (p.Arg22584=)
c.57605G= (p.Arg19202=)
2g.178546475C>GCA349469477TTN,TTN-AS1c.87152G>C (p.Arg29051Pro)
c.68237G>C (p.Arg22746Pro)
c.68036G>C (p.Arg22679Pro)
c.67661G>C (p.Arg22554Pro)
c.94856G>C (p.Arg31619Pro)
c.89933G>C (p.Arg29978Pro)
n.446+22839C>G
n.2043+4114C>G
c.93953G>C (p.Arg31318Pro)
c.67847G>C (p.Arg22616Pro)
c.67706G>C (p.Arg22569Pro)
c.93749G>C (p.Arg31250Pro)
c.89147G>C (p.Arg29716Pro)
c.89144G>C (p.Arg29715Pro)
c.86186G>C (p.Arg28729Pro)
c.67802G>C (p.Arg22601Pro)
c.89297G>C (p.Arg29766Pro)
c.89294G>C (p.Arg29765Pro)
c.88727G>C (p.Arg29576Pro)
c.86069G>C (p.Arg28690Pro)
c.85988G>C (p.Arg28663Pro)
c.67751G>C (p.Arg22584Pro)
c.57605G>C (p.Arg19202Pro)
 gnomAD v4
2g.178546475C>TCA310965TTN,TTN-AS1c.87152G>A (p.Arg29051Gln)
c.68237G>A (p.Arg22746Gln)
c.68036G>A (p.Arg22679Gln)
c.67661G>A (p.Arg22554Gln)
c.94856G>A (p.Arg31619Gln)
c.89933G>A (p.Arg29978Gln)
n.446+22839C>T
n.2043+4114C>T
c.93953G>A (p.Arg31318Gln)
c.67847G>A (p.Arg22616Gln)
c.67706G>A (p.Arg22569Gln)
c.93749G>A (p.Arg31250Gln)
c.89147G>A (p.Arg29716Gln)
c.89144G>A (p.Arg29715Gln)
c.86186G>A (p.Arg28729Gln)
c.67802G>A (p.Arg22601Gln)
c.89297G>A (p.Arg29766Gln)
c.89294G>A (p.Arg29765Gln)
c.88727G>A (p.Arg29576Gln)
c.86069G>A (p.Arg28690Gln)
c.85988G>A (p.Arg28663Gln)
c.67751G>A (p.Arg22584Gln)
c.57605G>A (p.Arg19202Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546476G>ACA353192TTN,TTN-AS1c.87151C>T (p.Arg29051Ter)
c.68236C>T (p.Arg22746Ter)
c.68035C>T (p.Arg22679Ter)
c.67660C>T (p.Arg22554Ter)
c.94855C>T (p.Arg31619Ter)
c.89932C>T (p.Arg29978Ter)
n.446+22840G>A
n.2043+4115G>A
c.93952C>T (p.Arg31318Ter)
c.67846C>T (p.Arg22616Ter)
c.67705C>T (p.Arg22569Ter)
c.93748C>T (p.Arg31250Ter)
c.89146C>T (p.Arg29716Ter)
c.89143C>T (p.Arg29715Ter)
c.86185C>T (p.Arg28729Ter)
c.67801C>T (p.Arg22601Ter)
c.89296C>T (p.Arg29766Ter)
c.89293C>T (p.Arg29765Ter)
c.88726C>T (p.Arg29576Ter)
c.86068C>T (p.Arg28690Ter)
c.85987C>T (p.Arg28663Ter)
c.67750C>T (p.Arg22584Ter)
c.57604C>T (p.Arg19202Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546476G>CCA349469492TTN,TTN-AS1c.87151C>G (p.Arg29051Gly)
c.68236C>G (p.Arg22746Gly)
c.68035C>G (p.Arg22679Gly)
c.67660C>G (p.Arg22554Gly)
c.94855C>G (p.Arg31619Gly)
c.89932C>G (p.Arg29978Gly)
n.446+22840G>C
n.2043+4115G>C
c.93952C>G (p.Arg31318Gly)
c.67846C>G (p.Arg22616Gly)
c.67705C>G (p.Arg22569Gly)
c.93748C>G (p.Arg31250Gly)
c.89146C>G (p.Arg29716Gly)
c.89143C>G (p.Arg29715Gly)
c.86185C>G (p.Arg28729Gly)
c.67801C>G (p.Arg22601Gly)
c.89296C>G (p.Arg29766Gly)
c.89293C>G (p.Arg29765Gly)
c.88726C>G (p.Arg29576Gly)
c.86068C>G (p.Arg28690Gly)
c.85987C>G (p.Arg28663Gly)
c.67750C>G (p.Arg22584Gly)
c.57604C>G (p.Arg19202Gly)
2g.178546476G=CA1310523114TTN,TTN-AS1c.87151C= (p.Arg29051=)
c.68236C= (p.Arg22746=)
c.68035C= (p.Arg22679=)
c.67660C= (p.Arg22554=)
c.94855C= (p.Arg31619=)
c.89932C= (p.Arg29978=)
n.446+22840G=
n.2043+4115G=
c.93952C= (p.Arg31318=)
c.67846C= (p.Arg22616=)
c.67705C= (p.Arg22569=)
c.93748C= (p.Arg31250=)
c.89146C= (p.Arg29716=)
c.89143C= (p.Arg29715=)
c.86185C= (p.Arg28729=)
c.67801C= (p.Arg22601=)
c.89296C= (p.Arg29766=)
c.89293C= (p.Arg29765=)
c.88726C= (p.Arg29576=)
c.86068C= (p.Arg28690=)
c.85987C= (p.Arg28663=)
c.67750C= (p.Arg22584=)
c.57604C= (p.Arg19202=)
2g.178546476G>TCA430242315TTN,TTN-AS1c.87151C>A (p.Arg29051=)
c.68236C>A (p.Arg22746=)
c.68035C>A (p.Arg22679=)
c.67660C>A (p.Arg22554=)
c.94855C>A (p.Arg31619=)
c.89932C>A (p.Arg29978=)
n.446+22840G>T
n.2043+4115G>T
c.93952C>A (p.Arg31318=)
c.67846C>A (p.Arg22616=)
c.67705C>A (p.Arg22569=)
c.93748C>A (p.Arg31250=)
c.89146C>A (p.Arg29716=)
c.89143C>A (p.Arg29715=)
c.86185C>A (p.Arg28729=)
c.67801C>A (p.Arg22601=)
c.89296C>A (p.Arg29766=)
c.89293C>A (p.Arg29765=)
c.88726C>A (p.Arg29576=)
c.86068C>A (p.Arg28690=)
c.85987C>A (p.Arg28663=)
c.67750C>A (p.Arg22584=)
c.57604C>A (p.Arg19202=)
2g.178546477G>ACA430242319TTN,TTN-AS1c.87150C>T (p.Ala29050=)
c.68235C>T (p.Ala22745=)
c.68034C>T (p.Ala22678=)
c.67659C>T (p.Ala22553=)
c.94854C>T (p.Ala31618=)
c.89931C>T (p.Ala29977=)
n.446+22841G>A
n.2043+4116G>A
c.93951C>T (p.Ala31317=)
c.67845C>T (p.Ala22615=)
c.67704C>T (p.Ala22568=)
c.93747C>T (p.Ala31249=)
c.89145C>T (p.Ala29715=)
c.89142C>T (p.Ala29714=)
c.86184C>T (p.Ala28728=)
c.67800C>T (p.Ala22600=)
c.89295C>T (p.Ala29765=)
c.89292C>T (p.Ala29764=)
c.88725C>T (p.Ala29575=)
c.86067C>T (p.Ala28689=)
c.85986C>T (p.Ala28662=)
c.67749C>T (p.Ala22583=)
c.57603C>T (p.Ala19201=)
2g.178546477G>CCA430242321TTN,TTN-AS1c.87150C>G (p.Ala29050=)
c.68235C>G (p.Ala22745=)
c.68034C>G (p.Ala22678=)
c.67659C>G (p.Ala22553=)
c.94854C>G (p.Ala31618=)
c.89931C>G (p.Ala29977=)
n.446+22841G>C
n.2043+4116G>C
c.93951C>G (p.Ala31317=)
c.67845C>G (p.Ala22615=)
c.67704C>G (p.Ala22568=)
c.93747C>G (p.Ala31249=)
c.89145C>G (p.Ala29715=)
c.89142C>G (p.Ala29714=)
c.86184C>G (p.Ala28728=)
c.67800C>G (p.Ala22600=)
c.89295C>G (p.Ala29765=)
c.89292C>G (p.Ala29764=)
c.88725C>G (p.Ala29575=)
c.86067C>G (p.Ala28689=)
c.85986C>G (p.Ala28662=)
c.67749C>G (p.Ala22583=)
c.57603C>G (p.Ala19201=)
2g.178546477G>TCA430242317TTN,TTN-AS1c.87150C>A (p.Ala29050=)
c.68235C>A (p.Ala22745=)
c.68034C>A (p.Ala22678=)
c.67659C>A (p.Ala22553=)
c.94854C>A (p.Ala31618=)
c.89931C>A (p.Ala29977=)
n.446+22841G>T
n.2043+4116G>T
c.93951C>A (p.Ala31317=)
c.67845C>A (p.Ala22615=)
c.67704C>A (p.Ala22568=)
c.93747C>A (p.Ala31249=)
c.89145C>A (p.Ala29715=)
c.89142C>A (p.Ala29714=)
c.86184C>A (p.Ala28728=)
c.67800C>A (p.Ala22600=)
c.89295C>A (p.Ala29765=)
c.89292C>A (p.Ala29764=)
c.88725C>A (p.Ala29575=)
c.86067C>A (p.Ala28689=)
c.85986C>A (p.Ala28662=)
c.67749C>A (p.Ala22583=)
c.57603C>A (p.Ala19201=)
2g.178546478G>ACA349469501TTN,TTN-AS1c.87149C>T (p.Ala29050Val)
c.68234C>T (p.Ala22745Val)
c.68033C>T (p.Ala22678Val)
c.67658C>T (p.Ala22553Val)
c.94853C>T (p.Ala31618Val)
c.89930C>T (p.Ala29977Val)
n.446+22842G>A
n.2043+4117G>A
c.93950C>T (p.Ala31317Val)
c.67844C>T (p.Ala22615Val)
c.67703C>T (p.Ala22568Val)
c.93746C>T (p.Ala31249Val)
c.89144C>T (p.Ala29715Val)
c.89141C>T (p.Ala29714Val)
c.86183C>T (p.Ala28728Val)
c.67799C>T (p.Ala22600Val)
c.89294C>T (p.Ala29765Val)
c.89291C>T (p.Ala29764Val)
c.88724C>T (p.Ala29575Val)
c.86066C>T (p.Ala28689Val)
c.85985C>T (p.Ala28662Val)
c.67748C>T (p.Ala22583Val)
c.57602C>T (p.Ala19201Val)
 dbSNP gnomAD v2
2g.178546478G>CCA349469498TTN,TTN-AS1c.87149C>G (p.Ala29050Gly)
c.68234C>G (p.Ala22745Gly)
c.68033C>G (p.Ala22678Gly)
c.67658C>G (p.Ala22553Gly)
c.94853C>G (p.Ala31618Gly)
c.89930C>G (p.Ala29977Gly)
n.446+22842G>C
n.2043+4117G>C
c.93950C>G (p.Ala31317Gly)
c.67844C>G (p.Ala22615Gly)
c.67703C>G (p.Ala22568Gly)
c.93746C>G (p.Ala31249Gly)
c.89144C>G (p.Ala29715Gly)
c.89141C>G (p.Ala29714Gly)
c.86183C>G (p.Ala28728Gly)
c.67799C>G (p.Ala22600Gly)
c.89294C>G (p.Ala29765Gly)
c.89291C>G (p.Ala29764Gly)
c.88724C>G (p.Ala29575Gly)
c.86066C>G (p.Ala28689Gly)
c.85985C>G (p.Ala28662Gly)
c.67748C>G (p.Ala22583Gly)
c.57602C>G (p.Ala19201Gly)
2g.178546478G=CA1310523116TTN,TTN-AS1c.87149C= (p.Ala29050=)
c.68234C= (p.Ala22745=)
c.68033C= (p.Ala22678=)
c.67658C= (p.Ala22553=)
c.94853C= (p.Ala31618=)
c.89930C= (p.Ala29977=)
n.446+22842G=
n.2043+4117G=
c.93950C= (p.Ala31317=)
c.67844C= (p.Ala22615=)
c.67703C= (p.Ala22568=)
c.93746C= (p.Ala31249=)
c.89144C= (p.Ala29715=)
c.89141C= (p.Ala29714=)
c.86183C= (p.Ala28728=)
c.67799C= (p.Ala22600=)
c.89294C= (p.Ala29765=)
c.89291C= (p.Ala29764=)
c.88724C= (p.Ala29575=)
c.86066C= (p.Ala28689=)
c.85985C= (p.Ala28662=)
c.67748C= (p.Ala22583=)
c.57602C= (p.Ala19201=)
2g.178546478G>TCA349469495TTN,TTN-AS1c.87149C>A (p.Ala29050Asp)
c.68234C>A (p.Ala22745Asp)
c.68033C>A (p.Ala22678Asp)
c.67658C>A (p.Ala22553Asp)
c.94853C>A (p.Ala31618Asp)
c.89930C>A (p.Ala29977Asp)
n.446+22842G>T
n.2043+4117G>T
c.93950C>A (p.Ala31317Asp)
c.67844C>A (p.Ala22615Asp)
c.67703C>A (p.Ala22568Asp)
c.93746C>A (p.Ala31249Asp)
c.89144C>A (p.Ala29715Asp)
c.89141C>A (p.Ala29714Asp)
c.86183C>A (p.Ala28728Asp)
c.67799C>A (p.Ala22600Asp)
c.89294C>A (p.Ala29765Asp)
c.89291C>A (p.Ala29764Asp)
c.88724C>A (p.Ala29575Asp)
c.86066C>A (p.Ala28689Asp)
c.85985C>A (p.Ala28662Asp)
c.67748C>A (p.Ala22583Asp)
c.57602C>A (p.Ala19201Asp)
2g.178546479C>ACA349469509TTN,TTN-AS1c.87148G>T (p.Ala29050Ser)
c.68233G>T (p.Ala22745Ser)
c.68032G>T (p.Ala22678Ser)
c.67657G>T (p.Ala22553Ser)
c.94852G>T (p.Ala31618Ser)
c.89929G>T (p.Ala29977Ser)
n.446+22843C>A
n.2043+4118C>A
c.93949G>T (p.Ala31317Ser)
c.67843G>T (p.Ala22615Ser)
c.67702G>T (p.Ala22568Ser)
c.93745G>T (p.Ala31249Ser)
c.89143G>T (p.Ala29715Ser)
c.89140G>T (p.Ala29714Ser)
c.86182G>T (p.Ala28728Ser)
c.67798G>T (p.Ala22600Ser)
c.89293G>T (p.Ala29765Ser)
c.89290G>T (p.Ala29764Ser)
c.88723G>T (p.Ala29575Ser)
c.86065G>T (p.Ala28689Ser)
c.85984G>T (p.Ala28662Ser)
c.67747G>T (p.Ala22583Ser)
c.57601G>T (p.Ala19201Ser)
2g.178546479C=CA1310523117TTN,TTN-AS1c.87148G= (p.Ala29050=)
c.68233G= (p.Ala22745=)
c.68032G= (p.Ala22678=)
c.67657G= (p.Ala22553=)
c.94852G= (p.Ala31618=)
c.89929G= (p.Ala29977=)
n.446+22843C=
n.2043+4118C=
c.93949G= (p.Ala31317=)
c.67843G= (p.Ala22615=)
c.67702G= (p.Ala22568=)
c.93745G= (p.Ala31249=)
c.89143G= (p.Ala29715=)
c.89140G= (p.Ala29714=)
c.86182G= (p.Ala28728=)
c.67798G= (p.Ala22600=)
c.89293G= (p.Ala29765=)
c.89290G= (p.Ala29764=)
c.88723G= (p.Ala29575=)
c.86065G= (p.Ala28689=)
c.85984G= (p.Ala28662=)
c.67747G= (p.Ala22583=)
c.57601G= (p.Ala19201=)
2g.178546479C>GCA349469518TTN,TTN-AS1c.87148G>C (p.Ala29050Pro)
c.68233G>C (p.Ala22745Pro)
c.68032G>C (p.Ala22678Pro)
c.67657G>C (p.Ala22553Pro)
c.94852G>C (p.Ala31618Pro)
c.89929G>C (p.Ala29977Pro)
n.446+22843C>G
n.2043+4118C>G
c.93949G>C (p.Ala31317Pro)
c.67843G>C (p.Ala22615Pro)
c.67702G>C (p.Ala22568Pro)
c.93745G>C (p.Ala31249Pro)
c.89143G>C (p.Ala29715Pro)
c.89140G>C (p.Ala29714Pro)
c.86182G>C (p.Ala28728Pro)
c.67798G>C (p.Ala22600Pro)
c.89293G>C (p.Ala29765Pro)
c.89290G>C (p.Ala29764Pro)
c.88723G>C (p.Ala29575Pro)
c.86065G>C (p.Ala28689Pro)
c.85984G>C (p.Ala28662Pro)
c.67747G>C (p.Ala22583Pro)
c.57601G>C (p.Ala19201Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546479C>TCA349469522TTN,TTN-AS1c.87148G>A (p.Ala29050Thr)
c.68233G>A (p.Ala22745Thr)
c.68032G>A (p.Ala22678Thr)
c.67657G>A (p.Ala22553Thr)
c.94852G>A (p.Ala31618Thr)
c.89929G>A (p.Ala29977Thr)
n.446+22843C>T
n.2043+4118C>T
c.93949G>A (p.Ala31317Thr)
c.67843G>A (p.Ala22615Thr)
c.67702G>A (p.Ala22568Thr)
c.93745G>A (p.Ala31249Thr)
c.89143G>A (p.Ala29715Thr)
c.89140G>A (p.Ala29714Thr)
c.86182G>A (p.Ala28728Thr)
c.67798G>A (p.Ala22600Thr)
c.89293G>A (p.Ala29765Thr)
c.89290G>A (p.Ala29764Thr)
c.88723G>A (p.Ala29575Thr)
c.86065G>A (p.Ala28689Thr)
c.85984G>A (p.Ala28662Thr)
c.67747G>A (p.Ala22583Thr)
c.57601G>A (p.Ala19201Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178546480A=CA1310523118TTN,TTN-AS1c.87147T= (p.Asp29049=)
c.68232T= (p.Asp22744=)
c.68031T= (p.Asp22677=)
c.67656T= (p.Asp22552=)
c.94851T= (p.Asp31617=)
c.89928T= (p.Asp29976=)
n.446+22844A=
n.2043+4119A=
c.93948T= (p.Asp31316=)
c.67842T= (p.Asp22614=)
c.67701T= (p.Asp22567=)
c.93744T= (p.Asp31248=)
c.89142T= (p.Asp29714=)
c.89139T= (p.Asp29713=)
c.86181T= (p.Asp28727=)
c.67797T= (p.Asp22599=)
c.89292T= (p.Asp29764=)
c.89289T= (p.Asp29763=)
c.88722T= (p.Asp29574=)
c.86064T= (p.Asp28688=)
c.85983T= (p.Asp28661=)
c.67746T= (p.Asp22582=)
c.57600T= (p.Asp19200=)
2g.178546480A>CCA349469525TTN,TTN-AS1c.87147T>G (p.Asp29049Glu)
c.68232T>G (p.Asp22744Glu)
c.68031T>G (p.Asp22677Glu)
c.67656T>G (p.Asp22552Glu)
c.94851T>G (p.Asp31617Glu)
c.89928T>G (p.Asp29976Glu)
n.446+22844A>C
n.2043+4119A>C
c.93948T>G (p.Asp31316Glu)
c.67842T>G (p.Asp22614Glu)
c.67701T>G (p.Asp22567Glu)
c.93744T>G (p.Asp31248Glu)
c.89142T>G (p.Asp29714Glu)
c.89139T>G (p.Asp29713Glu)
c.86181T>G (p.Asp28727Glu)
c.67797T>G (p.Asp22599Glu)
c.89292T>G (p.Asp29764Glu)
c.89289T>G (p.Asp29763Glu)
c.88722T>G (p.Asp29574Glu)
c.86064T>G (p.Asp28688Glu)
c.85983T>G (p.Asp28661Glu)
c.67746T>G (p.Asp22582Glu)
c.57600T>G (p.Asp19200Glu)
2g.178546480A>GCA430242326TTN,TTN-AS1c.87147T>C (p.Asp29049=)
c.68232T>C (p.Asp22744=)
c.68031T>C (p.Asp22677=)
c.67656T>C (p.Asp22552=)
c.94851T>C (p.Asp31617=)
c.89928T>C (p.Asp29976=)
n.446+22844A>G
n.2043+4119A>G
c.93948T>C (p.Asp31316=)
c.67842T>C (p.Asp22614=)
c.67701T>C (p.Asp22567=)
c.93744T>C (p.Asp31248=)
c.89142T>C (p.Asp29714=)
c.89139T>C (p.Asp29713=)
c.86181T>C (p.Asp28727=)
c.67797T>C (p.Asp22599=)
c.89292T>C (p.Asp29764=)
c.89289T>C (p.Asp29763=)
c.88722T>C (p.Asp29574=)
c.86064T>C (p.Asp28688=)
c.85983T>C (p.Asp28661=)
c.67746T>C (p.Asp22582=)
c.57600T>C (p.Asp19200=)
 gnomAD v4
2g.178546480A>TCA141313TTN,TTN-AS1c.87147T>A (p.Asp29049Glu)
c.68232T>A (p.Asp22744Glu)
c.68031T>A (p.Asp22677Glu)
c.67656T>A (p.Asp22552Glu)
c.94851T>A (p.Asp31617Glu)
c.89928T>A (p.Asp29976Glu)
n.446+22844A>T
n.2043+4119A>T
c.93948T>A (p.Asp31316Glu)
c.67842T>A (p.Asp22614Glu)
c.67701T>A (p.Asp22567Glu)
c.93744T>A (p.Asp31248Glu)
c.89142T>A (p.Asp29714Glu)
c.89139T>A (p.Asp29713Glu)
c.86181T>A (p.Asp28727Glu)
c.67797T>A (p.Asp22599Glu)
c.89292T>A (p.Asp29764Glu)
c.89289T>A (p.Asp29763Glu)
c.88722T>A (p.Asp29574Glu)
c.86064T>A (p.Asp28688Glu)
c.85983T>A (p.Asp28661Glu)
c.67746T>A (p.Asp22582Glu)
c.57600T>A (p.Asp19200Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546481T>ACA349469532TTN,TTN-AS1c.87146A>T (p.Asp29049Val)
c.68231A>T (p.Asp22744Val)
c.68030A>T (p.Asp22677Val)
c.67655A>T (p.Asp22552Val)
c.94850A>T (p.Asp31617Val)
c.89927A>T (p.Asp29976Val)
n.446+22845T>A
n.2043+4120T>A
c.93947A>T (p.Asp31316Val)
c.67841A>T (p.Asp22614Val)
c.67700A>T (p.Asp22567Val)
c.93743A>T (p.Asp31248Val)
c.89141A>T (p.Asp29714Val)
c.89138A>T (p.Asp29713Val)
c.86180A>T (p.Asp28727Val)
c.67796A>T (p.Asp22599Val)
c.89291A>T (p.Asp29764Val)
c.89288A>T (p.Asp29763Val)
c.88721A>T (p.Asp29574Val)
c.86063A>T (p.Asp28688Val)
c.85982A>T (p.Asp28661Val)
c.67745A>T (p.Asp22582Val)
c.57599A>T (p.Asp19200Val)
2g.178546481T>CCA349469541TTN,TTN-AS1c.87146A>G (p.Asp29049Gly)
c.68231A>G (p.Asp22744Gly)
c.68030A>G (p.Asp22677Gly)
c.67655A>G (p.Asp22552Gly)
c.94850A>G (p.Asp31617Gly)
c.89927A>G (p.Asp29976Gly)
n.446+22845T>C
n.2043+4120T>C
c.93947A>G (p.Asp31316Gly)
c.67841A>G (p.Asp22614Gly)
c.67700A>G (p.Asp22567Gly)
c.93743A>G (p.Asp31248Gly)
c.89141A>G (p.Asp29714Gly)
c.89138A>G (p.Asp29713Gly)
c.86180A>G (p.Asp28727Gly)
c.67796A>G (p.Asp22599Gly)
c.89291A>G (p.Asp29764Gly)
c.89288A>G (p.Asp29763Gly)
c.88721A>G (p.Asp29574Gly)
c.86063A>G (p.Asp28688Gly)
c.85982A>G (p.Asp28661Gly)
c.67745A>G (p.Asp22582Gly)
c.57599A>G (p.Asp19200Gly)
2g.178546481T>GCA349469546TTN,TTN-AS1c.87146A>C (p.Asp29049Ala)
c.68231A>C (p.Asp22744Ala)
c.68030A>C (p.Asp22677Ala)
c.67655A>C (p.Asp22552Ala)
c.94850A>C (p.Asp31617Ala)
c.89927A>C (p.Asp29976Ala)
n.446+22845T>G
n.2043+4120T>G
c.93947A>C (p.Asp31316Ala)
c.67841A>C (p.Asp22614Ala)
c.67700A>C (p.Asp22567Ala)
c.93743A>C (p.Asp31248Ala)
c.89141A>C (p.Asp29714Ala)
c.89138A>C (p.Asp29713Ala)
c.86180A>C (p.Asp28727Ala)
c.67796A>C (p.Asp22599Ala)
c.89291A>C (p.Asp29764Ala)
c.89288A>C (p.Asp29763Ala)
c.88721A>C (p.Asp29574Ala)
c.86063A>C (p.Asp28688Ala)
c.85982A>C (p.Asp28661Ala)
c.67745A>C (p.Asp22582Ala)
c.57599A>C (p.Asp19200Ala)
2g.178546482C>ACA349469549TTN,TTN-AS1c.87145G>T (p.Asp29049Tyr)
c.68230G>T (p.Asp22744Tyr)
c.68029G>T (p.Asp22677Tyr)
c.67654G>T (p.Asp22552Tyr)
c.94849G>T (p.Asp31617Tyr)
c.89926G>T (p.Asp29976Tyr)
n.446+22846C>A
n.2043+4121C>A
c.93946G>T (p.Asp31316Tyr)
c.67840G>T (p.Asp22614Tyr)
c.67699G>T (p.Asp22567Tyr)
c.93742G>T (p.Asp31248Tyr)
c.89140G>T (p.Asp29714Tyr)
c.89137G>T (p.Asp29713Tyr)
c.86179G>T (p.Asp28727Tyr)
c.67795G>T (p.Asp22599Tyr)
c.89290G>T (p.Asp29764Tyr)
c.89287G>T (p.Asp29763Tyr)
c.88720G>T (p.Asp29574Tyr)
c.86062G>T (p.Asp28688Tyr)
c.85981G>T (p.Asp28661Tyr)
c.67744G>T (p.Asp22582Tyr)
c.57598G>T (p.Asp19200Tyr)
2g.178546482C=CA1310523120TTN,TTN-AS1c.87145G= (p.Asp29049=)
c.68230G= (p.Asp22744=)
c.68029G= (p.Asp22677=)
c.67654G= (p.Asp22552=)
c.94849G= (p.Asp31617=)
c.89926G= (p.Asp29976=)
n.446+22846C=
n.2043+4121C=
c.93946G= (p.Asp31316=)
c.67840G= (p.Asp22614=)
c.67699G= (p.Asp22567=)
c.93742G= (p.Asp31248=)
c.89140G= (p.Asp29714=)
c.89137G= (p.Asp29713=)
c.86179G= (p.Asp28727=)
c.67795G= (p.Asp22599=)
c.89290G= (p.Asp29764=)
c.89287G= (p.Asp29763=)
c.88720G= (p.Asp29574=)
c.86062G= (p.Asp28688=)
c.85981G= (p.Asp28661=)
c.67744G= (p.Asp22582=)
c.57598G= (p.Asp19200=)
2g.178546482C>GCA349469550TTN,TTN-AS1c.87145G>C (p.Asp29049His)
c.68230G>C (p.Asp22744His)
c.68029G>C (p.Asp22677His)
c.67654G>C (p.Asp22552His)
c.94849G>C (p.Asp31617His)
c.89926G>C (p.Asp29976His)
n.446+22846C>G
n.2043+4121C>G
c.93946G>C (p.Asp31316His)
c.67840G>C (p.Asp22614His)
c.67699G>C (p.Asp22567His)
c.93742G>C (p.Asp31248His)
c.89140G>C (p.Asp29714His)
c.89137G>C (p.Asp29713His)
c.86179G>C (p.Asp28727His)
c.67795G>C (p.Asp22599His)
c.89290G>C (p.Asp29764His)
c.89287G>C (p.Asp29763His)
c.88720G>C (p.Asp29574His)
c.86062G>C (p.Asp28688His)
c.85981G>C (p.Asp28661His)
c.67744G>C (p.Asp22582His)
c.57598G>C (p.Asp19200His)
2g.178546482C>TCA1987056TTN,TTN-AS1c.87145G>A (p.Asp29049Asn)
c.68230G>A (p.Asp22744Asn)
c.68029G>A (p.Asp22677Asn)
c.67654G>A (p.Asp22552Asn)
c.94849G>A (p.Asp31617Asn)
c.89926G>A (p.Asp29976Asn)
n.446+22846C>T
n.2043+4121C>T
c.93946G>A (p.Asp31316Asn)
c.67840G>A (p.Asp22614Asn)
c.67699G>A (p.Asp22567Asn)
c.93742G>A (p.Asp31248Asn)
c.89140G>A (p.Asp29714Asn)
c.89137G>A (p.Asp29713Asn)
c.86179G>A (p.Asp28727Asn)
c.67795G>A (p.Asp22599Asn)
c.89290G>A (p.Asp29764Asn)
c.89287G>A (p.Asp29763Asn)
c.88720G>A (p.Asp29574Asn)
c.86062G>A (p.Asp28688Asn)
c.85981G>A (p.Asp28661Asn)
c.67744G>A (p.Asp22582Asn)
c.57598G>A (p.Asp19200Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546483C>ACA430242334TTN,TTN-AS1c.87144G>T (p.Leu29048=)
c.68229G>T (p.Leu22743=)
c.68028G>T (p.Leu22676=)
c.67653G>T (p.Leu22551=)
c.94848G>T (p.Leu31616=)
c.89925G>T (p.Leu29975=)
n.446+22847C>A
n.2043+4122C>A
c.93945G>T (p.Leu31315=)
c.67839G>T (p.Leu22613=)
c.67698G>T (p.Leu22566=)
c.93741G>T (p.Leu31247=)
c.89139G>T (p.Leu29713=)
c.89136G>T (p.Leu29712=)
c.86178G>T (p.Leu28726=)
c.67794G>T (p.Leu22598=)
c.89289G>T (p.Leu29763=)
c.89286G>T (p.Leu29762=)
c.88719G>T (p.Leu29573=)
c.86061G>T (p.Leu28687=)
c.85980G>T (p.Leu28660=)
c.67743G>T (p.Leu22581=)
c.57597G>T (p.Leu19199=)
2g.178546483C>GCA430242331TTN,TTN-AS1c.87144G>C (p.Leu29048=)
c.68229G>C (p.Leu22743=)
c.68028G>C (p.Leu22676=)
c.67653G>C (p.Leu22551=)
c.94848G>C (p.Leu31616=)
c.89925G>C (p.Leu29975=)
n.446+22847C>G
n.2043+4122C>G
c.93945G>C (p.Leu31315=)
c.67839G>C (p.Leu22613=)
c.67698G>C (p.Leu22566=)
c.93741G>C (p.Leu31247=)
c.89139G>C (p.Leu29713=)
c.89136G>C (p.Leu29712=)
c.86178G>C (p.Leu28726=)
c.67794G>C (p.Leu22598=)
c.89289G>C (p.Leu29763=)
c.89286G>C (p.Leu29762=)
c.88719G>C (p.Leu29573=)
c.86061G>C (p.Leu28687=)
c.85980G>C (p.Leu28660=)
c.67743G>C (p.Leu22581=)
c.57597G>C (p.Leu19199=)
2g.178546483C>TCA430242332TTN,TTN-AS1c.87144G>A (p.Leu29048=)
c.68229G>A (p.Leu22743=)
c.68028G>A (p.Leu22676=)
c.67653G>A (p.Leu22551=)
c.94848G>A (p.Leu31616=)
c.89925G>A (p.Leu29975=)
n.446+22847C>T
n.2043+4122C>T
c.93945G>A (p.Leu31315=)
c.67839G>A (p.Leu22613=)
c.67698G>A (p.Leu22566=)
c.93741G>A (p.Leu31247=)
c.89139G>A (p.Leu29713=)
c.89136G>A (p.Leu29712=)
c.86178G>A (p.Leu28726=)
c.67794G>A (p.Leu22598=)
c.89289G>A (p.Leu29763=)
c.89286G>A (p.Leu29762=)
c.88719G>A (p.Leu29573=)
c.86061G>A (p.Leu28687=)
c.85980G>A (p.Leu28660=)
c.67743G>A (p.Leu22581=)
c.57597G>A (p.Leu19199=)
2g.178546484A=CA1310523122TTN,TTN-AS1c.87143T= (p.Leu29048=)
c.68228T= (p.Leu22743=)
c.68027T= (p.Leu22676=)
c.67652T= (p.Leu22551=)
c.94847T= (p.Leu31616=)
c.89924T= (p.Leu29975=)
n.446+22848A=
n.2043+4123A=
c.93944T= (p.Leu31315=)
c.67838T= (p.Leu22613=)
c.67697T= (p.Leu22566=)
c.93740T= (p.Leu31247=)
c.89138T= (p.Leu29713=)
c.89135T= (p.Leu29712=)
c.86177T= (p.Leu28726=)
c.67793T= (p.Leu22598=)
c.89288T= (p.Leu29763=)
c.89285T= (p.Leu29762=)
c.88718T= (p.Leu29573=)
c.86060T= (p.Leu28687=)
c.85979T= (p.Leu28660=)
c.67742T= (p.Leu22581=)
c.57596T= (p.Leu19199=)
2g.178546484A>CCA349469551TTN,TTN-AS1c.87143T>G (p.Leu29048Arg)
c.68228T>G (p.Leu22743Arg)
c.68027T>G (p.Leu22676Arg)
c.67652T>G (p.Leu22551Arg)
c.94847T>G (p.Leu31616Arg)
c.89924T>G (p.Leu29975Arg)
n.446+22848A>C
n.2043+4123A>C
c.93944T>G (p.Leu31315Arg)
c.67838T>G (p.Leu22613Arg)
c.67697T>G (p.Leu22566Arg)
c.93740T>G (p.Leu31247Arg)
c.89138T>G (p.Leu29713Arg)
c.89135T>G (p.Leu29712Arg)
c.86177T>G (p.Leu28726Arg)
c.67793T>G (p.Leu22598Arg)
c.89288T>G (p.Leu29763Arg)
c.89285T>G (p.Leu29762Arg)
c.88718T>G (p.Leu29573Arg)
c.86060T>G (p.Leu28687Arg)
c.85979T>G (p.Leu28660Arg)
c.67742T>G (p.Leu22581Arg)
c.57596T>G (p.Leu19199Arg)
2g.178546484A>GCA349469552TTN,TTN-AS1c.87143T>C (p.Leu29048Pro)
c.68228T>C (p.Leu22743Pro)
c.68027T>C (p.Leu22676Pro)
c.67652T>C (p.Leu22551Pro)
c.94847T>C (p.Leu31616Pro)
c.89924T>C (p.Leu29975Pro)
n.446+22848A>G
n.2043+4123A>G
c.93944T>C (p.Leu31315Pro)
c.67838T>C (p.Leu22613Pro)
c.67697T>C (p.Leu22566Pro)
c.93740T>C (p.Leu31247Pro)
c.89138T>C (p.Leu29713Pro)
c.89135T>C (p.Leu29712Pro)
c.86177T>C (p.Leu28726Pro)
c.67793T>C (p.Leu22598Pro)
c.89288T>C (p.Leu29763Pro)
c.89285T>C (p.Leu29762Pro)
c.88718T>C (p.Leu29573Pro)
c.86060T>C (p.Leu28687Pro)
c.85979T>C (p.Leu28660Pro)
c.67742T>C (p.Leu22581Pro)
c.57596T>C (p.Leu19199Pro)
 dbSNP
2g.178546484A>TCA349469553TTN,TTN-AS1c.87143T>A (p.Leu29048Gln)
c.68228T>A (p.Leu22743Gln)
c.68027T>A (p.Leu22676Gln)
c.67652T>A (p.Leu22551Gln)
c.94847T>A (p.Leu31616Gln)
c.89924T>A (p.Leu29975Gln)
n.446+22848A>T
n.2043+4123A>T
c.93944T>A (p.Leu31315Gln)
c.67838T>A (p.Leu22613Gln)
c.67697T>A (p.Leu22566Gln)
c.93740T>A (p.Leu31247Gln)
c.89138T>A (p.Leu29713Gln)
c.89135T>A (p.Leu29712Gln)
c.86177T>A (p.Leu28726Gln)
c.67793T>A (p.Leu22598Gln)
c.89288T>A (p.Leu29763Gln)
c.89285T>A (p.Leu29762Gln)
c.88718T>A (p.Leu29573Gln)
c.86060T>A (p.Leu28687Gln)
c.85979T>A (p.Leu28660Gln)
c.67742T>A (p.Leu22581Gln)
c.57596T>A (p.Leu19199Gln)
 COSMIC COSMIC COSMIC COSMIC
2g.178546485G>ACA284090TTN,TTN-AS1c.87142C>T (p.Leu29048=)
c.68227C>T (p.Leu22743=)
c.68026C>T (p.Leu22676=)
c.67651C>T (p.Leu22551=)
c.94846C>T (p.Leu31616=)
c.89923C>T (p.Leu29975=)
n.446+22849G>A
n.2043+4124G>A
c.93943C>T (p.Leu31315=)
c.67837C>T (p.Leu22613=)
c.67696C>T (p.Leu22566=)
c.93739C>T (p.Leu31247=)
c.89137C>T (p.Leu29713=)
c.89134C>T (p.Leu29712=)
c.86176C>T (p.Leu28726=)
c.67792C>T (p.Leu22598=)
c.89287C>T (p.Leu29763=)
c.89284C>T (p.Leu29762=)
c.88717C>T (p.Leu29573=)
c.86059C>T (p.Leu28687=)
c.85978C>T (p.Leu28660=)
c.67741C>T (p.Leu22581=)
c.57595C>T (p.Leu19199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546485G>CCA349469557TTN,TTN-AS1c.87142C>G (p.Leu29048Val)
c.68227C>G (p.Leu22743Val)
c.68026C>G (p.Leu22676Val)
c.67651C>G (p.Leu22551Val)
c.94846C>G (p.Leu31616Val)
c.89923C>G (p.Leu29975Val)
n.446+22849G>C
n.2043+4124G>C
c.93943C>G (p.Leu31315Val)
c.67837C>G (p.Leu22613Val)
c.67696C>G (p.Leu22566Val)
c.93739C>G (p.Leu31247Val)
c.89137C>G (p.Leu29713Val)
c.89134C>G (p.Leu29712Val)
c.86176C>G (p.Leu28726Val)
c.67792C>G (p.Leu22598Val)
c.89287C>G (p.Leu29763Val)
c.89284C>G (p.Leu29762Val)
c.88717C>G (p.Leu29573Val)
c.86059C>G (p.Leu28687Val)
c.85978C>G (p.Leu28660Val)
c.67741C>G (p.Leu22581Val)
c.57595C>G (p.Leu19199Val)
2g.178546485G=CA1310523125TTN,TTN-AS1c.87142C= (p.Leu29048=)
c.68227C= (p.Leu22743=)
c.68026C= (p.Leu22676=)
c.67651C= (p.Leu22551=)
c.94846C= (p.Leu31616=)
c.89923C= (p.Leu29975=)
n.446+22849G=
n.2043+4124G=
c.93943C= (p.Leu31315=)
c.67837C= (p.Leu22613=)
c.67696C= (p.Leu22566=)
c.93739C= (p.Leu31247=)
c.89137C= (p.Leu29713=)
c.89134C= (p.Leu29712=)
c.86176C= (p.Leu28726=)
c.67792C= (p.Leu22598=)
c.89287C= (p.Leu29763=)
c.89284C= (p.Leu29762=)
c.88717C= (p.Leu29573=)
c.86059C= (p.Leu28687=)
c.85978C= (p.Leu28660=)
c.67741C= (p.Leu22581=)
c.57595C= (p.Leu19199=)
2g.178546485G>TCA349469554TTN,TTN-AS1c.87142C>A (p.Leu29048Met)
c.68227C>A (p.Leu22743Met)
c.68026C>A (p.Leu22676Met)
c.67651C>A (p.Leu22551Met)
c.94846C>A (p.Leu31616Met)
c.89923C>A (p.Leu29975Met)
n.446+22849G>T
n.2043+4124G>T
c.93943C>A (p.Leu31315Met)
c.67837C>A (p.Leu22613Met)
c.67696C>A (p.Leu22566Met)
c.93739C>A (p.Leu31247Met)
c.89137C>A (p.Leu29713Met)
c.89134C>A (p.Leu29712Met)
c.86176C>A (p.Leu28726Met)
c.67792C>A (p.Leu22598Met)
c.89287C>A (p.Leu29763Met)
c.89284C>A (p.Leu29762Met)
c.88717C>A (p.Leu29573Met)
c.86059C>A (p.Leu28687Met)
c.85978C>A (p.Leu28660Met)
c.67741C>A (p.Leu22581Met)
c.57595C>A (p.Leu19199Met)
 dbSNP
2g.178546486T>ACA349469566TTN,TTN-AS1c.87141A>T (p.Glu29047Asp)
c.68226A>T (p.Glu22742Asp)
c.68025A>T (p.Glu22675Asp)
c.67650A>T (p.Glu22550Asp)
c.94845A>T (p.Glu31615Asp)
c.89922A>T (p.Glu29974Asp)
n.446+22850T>A
n.2043+4125T>A
c.93942A>T (p.Glu31314Asp)
c.67836A>T (p.Glu22612Asp)
c.67695A>T (p.Glu22565Asp)
c.93738A>T (p.Glu31246Asp)
c.89136A>T (p.Glu29712Asp)
c.89133A>T (p.Glu29711Asp)
c.86175A>T (p.Glu28725Asp)
c.67791A>T (p.Glu22597Asp)
c.89286A>T (p.Glu29762Asp)
c.89283A>T (p.Glu29761Asp)
c.88716A>T (p.Glu29572Asp)
c.86058A>T (p.Glu28686Asp)
c.85977A>T (p.Glu28659Asp)
c.67740A>T (p.Glu22580Asp)
c.57594A>T (p.Glu19198Asp)
2g.178546486T>CCA430242340TTN,TTN-AS1c.87141A>G (p.Glu29047=)
c.68226A>G (p.Glu22742=)
c.68025A>G (p.Glu22675=)
c.67650A>G (p.Glu22550=)
c.94845A>G (p.Glu31615=)
c.89922A>G (p.Glu29974=)
n.446+22850T>C
n.2043+4125T>C
c.93942A>G (p.Glu31314=)
c.67836A>G (p.Glu22612=)
c.67695A>G (p.Glu22565=)
c.93738A>G (p.Glu31246=)
c.89136A>G (p.Glu29712=)
c.89133A>G (p.Glu29711=)
c.86175A>G (p.Glu28725=)
c.67791A>G (p.Glu22597=)
c.89286A>G (p.Glu29762=)
c.89283A>G (p.Glu29761=)
c.88716A>G (p.Glu29572=)
c.86058A>G (p.Glu28686=)
c.85977A>G (p.Glu28659=)
c.67740A>G (p.Glu22580=)
c.57594A>G (p.Glu19198=)
2g.178546486T>GCA349469569TTN,TTN-AS1c.87141A>C (p.Glu29047Asp)
c.68226A>C (p.Glu22742Asp)
c.68025A>C (p.Glu22675Asp)
c.67650A>C (p.Glu22550Asp)
c.94845A>C (p.Glu31615Asp)
c.89922A>C (p.Glu29974Asp)
n.446+22850T>G
n.2043+4125T>G
c.93942A>C (p.Glu31314Asp)
c.67836A>C (p.Glu22612Asp)
c.67695A>C (p.Glu22565Asp)
c.93738A>C (p.Glu31246Asp)
c.89136A>C (p.Glu29712Asp)
c.89133A>C (p.Glu29711Asp)
c.86175A>C (p.Glu28725Asp)
c.67791A>C (p.Glu22597Asp)
c.89286A>C (p.Glu29762Asp)
c.89283A>C (p.Glu29761Asp)
c.88716A>C (p.Glu29572Asp)
c.86058A>C (p.Glu28686Asp)
c.85977A>C (p.Glu28659Asp)
c.67740A>C (p.Glu22580Asp)
c.57594A>C (p.Glu19198Asp)
2g.178546487T>ACA349469574TTN,TTN-AS1c.87140A>T (p.Glu29047Val)
c.68225A>T (p.Glu22742Val)
c.68024A>T (p.Glu22675Val)
c.67649A>T (p.Glu22550Val)
c.94844A>T (p.Glu31615Val)
c.89921A>T (p.Glu29974Val)
n.446+22851T>A
n.2043+4126T>A
c.93941A>T (p.Glu31314Val)
c.67835A>T (p.Glu22612Val)
c.67694A>T (p.Glu22565Val)
c.93737A>T (p.Glu31246Val)
c.89135A>T (p.Glu29712Val)
c.89132A>T (p.Glu29711Val)
c.86174A>T (p.Glu28725Val)
c.67790A>T (p.Glu22597Val)
c.89285A>T (p.Glu29762Val)
c.89282A>T (p.Glu29761Val)
c.88715A>T (p.Glu29572Val)
c.86057A>T (p.Glu28686Val)
c.85976A>T (p.Glu28659Val)
c.67739A>T (p.Glu22580Val)
c.57593A>T (p.Glu19198Val)
2g.178546487T>CCA349469575TTN,TTN-AS1c.87140A>G (p.Glu29047Gly)
c.68225A>G (p.Glu22742Gly)
c.68024A>G (p.Glu22675Gly)
c.67649A>G (p.Glu22550Gly)
c.94844A>G (p.Glu31615Gly)
c.89921A>G (p.Glu29974Gly)
n.446+22851T>C
n.2043+4126T>C
c.93941A>G (p.Glu31314Gly)
c.67835A>G (p.Glu22612Gly)
c.67694A>G (p.Glu22565Gly)
c.93737A>G (p.Glu31246Gly)
c.89135A>G (p.Glu29712Gly)
c.89132A>G (p.Glu29711Gly)
c.86174A>G (p.Glu28725Gly)
c.67790A>G (p.Glu22597Gly)
c.89285A>G (p.Glu29762Gly)
c.89282A>G (p.Glu29761Gly)
c.88715A>G (p.Glu29572Gly)
c.86057A>G (p.Glu28686Gly)
c.85976A>G (p.Glu28659Gly)
c.67739A>G (p.Glu22580Gly)
c.57593A>G (p.Glu19198Gly)
2g.178546487T>GCA349469576TTN,TTN-AS1c.87140A>C (p.Glu29047Ala)
c.68225A>C (p.Glu22742Ala)
c.68024A>C (p.Glu22675Ala)
c.67649A>C (p.Glu22550Ala)
c.94844A>C (p.Glu31615Ala)
c.89921A>C (p.Glu29974Ala)
n.446+22851T>G
n.2043+4126T>G
c.93941A>C (p.Glu31314Ala)
c.67835A>C (p.Glu22612Ala)
c.67694A>C (p.Glu22565Ala)
c.93737A>C (p.Glu31246Ala)
c.89135A>C (p.Glu29712Ala)
c.89132A>C (p.Glu29711Ala)
c.86174A>C (p.Glu28725Ala)
c.67790A>C (p.Glu22597Ala)
c.89285A>C (p.Glu29762Ala)
c.89282A>C (p.Glu29761Ala)
c.88715A>C (p.Glu29572Ala)
c.86057A>C (p.Glu28686Ala)
c.85976A>C (p.Glu28659Ala)
c.67739A>C (p.Glu22580Ala)
c.57593A>C (p.Glu19198Ala)
2g.178546488C>ACA349469578TTN,TTN-AS1c.87139G>T (p.Glu29047Ter)
c.68224G>T (p.Glu22742Ter)
c.68023G>T (p.Glu22675Ter)
c.67648G>T (p.Glu22550Ter)
c.94843G>T (p.Glu31615Ter)
c.89920G>T (p.Glu29974Ter)
n.446+22852C>A
n.2043+4127C>A
c.93940G>T (p.Glu31314Ter)
c.67834G>T (p.Glu22612Ter)
c.67693G>T (p.Glu22565Ter)
c.93736G>T (p.Glu31246Ter)
c.89134G>T (p.Glu29712Ter)
c.89131G>T (p.Glu29711Ter)
c.86173G>T (p.Glu28725Ter)
c.67789G>T (p.Glu22597Ter)
c.89284G>T (p.Glu29762Ter)
c.89281G>T (p.Glu29761Ter)
c.88714G>T (p.Glu29572Ter)
c.86056G>T (p.Glu28686Ter)
c.85975G>T (p.Glu28659Ter)
c.67738G>T (p.Glu22580Ter)
c.57592G>T (p.Glu19198Ter)
2g.178546488C=CA1310523126TTN,TTN-AS1c.87139G= (p.Glu29047=)
c.68224G= (p.Glu22742=)
c.68023G= (p.Glu22675=)
c.67648G= (p.Glu22550=)
c.94843G= (p.Glu31615=)
c.89920G= (p.Glu29974=)
n.446+22852C=
n.2043+4127C=
c.93940G= (p.Glu31314=)
c.67834G= (p.Glu22612=)
c.67693G= (p.Glu22565=)
c.93736G= (p.Glu31246=)
c.89134G= (p.Glu29712=)
c.89131G= (p.Glu29711=)
c.86173G= (p.Glu28725=)
c.67789G= (p.Glu22597=)
c.89284G= (p.Glu29762=)
c.89281G= (p.Glu29761=)
c.88714G= (p.Glu29572=)
c.86056G= (p.Glu28686=)
c.85975G= (p.Glu28659=)
c.67738G= (p.Glu22580=)
c.57592G= (p.Glu19198=)
2g.178546488C>GCA349469582TTN,TTN-AS1c.87139G>C (p.Glu29047Gln)
c.68224G>C (p.Glu22742Gln)
c.68023G>C (p.Glu22675Gln)
c.67648G>C (p.Glu22550Gln)
c.94843G>C (p.Glu31615Gln)
c.89920G>C (p.Glu29974Gln)
n.446+22852C>G
n.2043+4127C>G
c.93940G>C (p.Glu31314Gln)
c.67834G>C (p.Glu22612Gln)
c.67693G>C (p.Glu22565Gln)
c.93736G>C (p.Glu31246Gln)
c.89134G>C (p.Glu29712Gln)
c.89131G>C (p.Glu29711Gln)
c.86173G>C (p.Glu28725Gln)
c.67789G>C (p.Glu22597Gln)
c.89284G>C (p.Glu29762Gln)
c.89281G>C (p.Glu29761Gln)
c.88714G>C (p.Glu29572Gln)
c.86056G>C (p.Glu28686Gln)
c.85975G>C (p.Glu28659Gln)
c.67738G>C (p.Glu22580Gln)
c.57592G>C (p.Glu19198Gln)
2g.178546488C>TCA1987057TTN,TTN-AS1c.87139G>A (p.Glu29047Lys)
c.68224G>A (p.Glu22742Lys)
c.68023G>A (p.Glu22675Lys)
c.67648G>A (p.Glu22550Lys)
c.94843G>A (p.Glu31615Lys)
c.89920G>A (p.Glu29974Lys)
n.446+22852C>T
n.2043+4127C>T
c.93940G>A (p.Glu31314Lys)
c.67834G>A (p.Glu22612Lys)
c.67693G>A (p.Glu22565Lys)
c.93736G>A (p.Glu31246Lys)
c.89134G>A (p.Glu29712Lys)
c.89131G>A (p.Glu29711Lys)
c.86173G>A (p.Glu28725Lys)
c.67789G>A (p.Glu22597Lys)
c.89284G>A (p.Glu29762Lys)
c.89281G>A (p.Glu29761Lys)
c.88714G>A (p.Glu29572Lys)
c.86056G>A (p.Glu28686Lys)
c.85975G>A (p.Glu28659Lys)
c.67738G>A (p.Glu22580Lys)
c.57592G>A (p.Glu19198Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546489G>ACA60972411TTN,TTN-AS1c.87138C>T (p.Ala29046=)
c.68223C>T (p.Ala22741=)
c.68022C>T (p.Ala22674=)
c.67647C>T (p.Ala22549=)
c.94842C>T (p.Ala31614=)
c.89919C>T (p.Ala29973=)
n.446+22853G>A
n.2043+4128G>A
c.93939C>T (p.Ala31313=)
c.67833C>T (p.Ala22611=)
c.67692C>T (p.Ala22564=)
c.93735C>T (p.Ala31245=)
c.89133C>T (p.Ala29711=)
c.89130C>T (p.Ala29710=)
c.86172C>T (p.Ala28724=)
c.67788C>T (p.Ala22596=)
c.89283C>T (p.Ala29761=)
c.89280C>T (p.Ala29760=)
c.88713C>T (p.Ala29571=)
c.86055C>T (p.Ala28685=)
c.85974C>T (p.Ala28658=)
c.67737C>T (p.Ala22579=)
c.57591C>T (p.Ala19197=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546489G>CCA430242347TTN,TTN-AS1c.87138C>G (p.Ala29046=)
c.68223C>G (p.Ala22741=)
c.68022C>G (p.Ala22674=)
c.67647C>G (p.Ala22549=)
c.94842C>G (p.Ala31614=)
c.89919C>G (p.Ala29973=)
n.446+22853G>C
n.2043+4128G>C
c.93939C>G (p.Ala31313=)
c.67833C>G (p.Ala22611=)
c.67692C>G (p.Ala22564=)
c.93735C>G (p.Ala31245=)
c.89133C>G (p.Ala29711=)
c.89130C>G (p.Ala29710=)
c.86172C>G (p.Ala28724=)
c.67788C>G (p.Ala22596=)
c.89283C>G (p.Ala29761=)
c.89280C>G (p.Ala29760=)
c.88713C>G (p.Ala29571=)
c.86055C>G (p.Ala28685=)
c.85974C>G (p.Ala28658=)
c.67737C>G (p.Ala22579=)
c.57591C>G (p.Ala19197=)
2g.178546489G=CA1310523128TTN,TTN-AS1c.87138C= (p.Ala29046=)
c.68223C= (p.Ala22741=)
c.68022C= (p.Ala22674=)
c.67647C= (p.Ala22549=)
c.94842C= (p.Ala31614=)
c.89919C= (p.Ala29973=)
n.446+22853G=
n.2043+4128G=
c.93939C= (p.Ala31313=)
c.67833C= (p.Ala22611=)
c.67692C= (p.Ala22564=)
c.93735C= (p.Ala31245=)
c.89133C= (p.Ala29711=)
c.89130C= (p.Ala29710=)
c.86172C= (p.Ala28724=)
c.67788C= (p.Ala22596=)
c.89283C= (p.Ala29761=)
c.89280C= (p.Ala29760=)
c.88713C= (p.Ala29571=)
c.86055C= (p.Ala28685=)
c.85974C= (p.Ala28658=)
c.67737C= (p.Ala22579=)
c.57591C= (p.Ala19197=)
2g.178546489G>TCA430242349TTN,TTN-AS1c.87138C>A (p.Ala29046=)
c.68223C>A (p.Ala22741=)
c.68022C>A (p.Ala22674=)
c.67647C>A (p.Ala22549=)
c.94842C>A (p.Ala31614=)
c.89919C>A (p.Ala29973=)
n.446+22853G>T
n.2043+4128G>T
c.93939C>A (p.Ala31313=)
c.67833C>A (p.Ala22611=)
c.67692C>A (p.Ala22564=)
c.93735C>A (p.Ala31245=)
c.89133C>A (p.Ala29711=)
c.89130C>A (p.Ala29710=)
c.86172C>A (p.Ala28724=)
c.67788C>A (p.Ala22596=)
c.89283C>A (p.Ala29761=)
c.89280C>A (p.Ala29760=)
c.88713C>A (p.Ala29571=)
c.86055C>A (p.Ala28685=)
c.85974C>A (p.Ala28658=)
c.67737C>A (p.Ala22579=)
c.57591C>A (p.Ala19197=)
2g.178546490G>ACA349469589TTN,TTN-AS1c.87137C>T (p.Ala29046Val)
c.68222C>T (p.Ala22741Val)
c.68021C>T (p.Ala22674Val)
c.67646C>T (p.Ala22549Val)
c.94841C>T (p.Ala31614Val)
c.89918C>T (p.Ala29973Val)
n.446+22854G>A
n.2043+4129G>A
c.93938C>T (p.Ala31313Val)
c.67832C>T (p.Ala22611Val)
c.67691C>T (p.Ala22564Val)
c.93734C>T (p.Ala31245Val)
c.89132C>T (p.Ala29711Val)
c.89129C>T (p.Ala29710Val)
c.86171C>T (p.Ala28724Val)
c.67787C>T (p.Ala22596Val)
c.89282C>T (p.Ala29761Val)
c.89279C>T (p.Ala29760Val)
c.88712C>T (p.Ala29571Val)
c.86054C>T (p.Ala28685Val)
c.85973C>T (p.Ala28658Val)
c.67736C>T (p.Ala22579Val)
c.57590C>T (p.Ala19197Val)
2g.178546490G>CCA349469590TTN,TTN-AS1c.87137C>G (p.Ala29046Gly)
c.68222C>G (p.Ala22741Gly)
c.68021C>G (p.Ala22674Gly)
c.67646C>G (p.Ala22549Gly)
c.94841C>G (p.Ala31614Gly)
c.89918C>G (p.Ala29973Gly)
n.446+22854G>C
n.2043+4129G>C
c.93938C>G (p.Ala31313Gly)
c.67832C>G (p.Ala22611Gly)
c.67691C>G (p.Ala22564Gly)
c.93734C>G (p.Ala31245Gly)
c.89132C>G (p.Ala29711Gly)
c.89129C>G (p.Ala29710Gly)
c.86171C>G (p.Ala28724Gly)
c.67787C>G (p.Ala22596Gly)
c.89282C>G (p.Ala29761Gly)
c.89279C>G (p.Ala29760Gly)
c.88712C>G (p.Ala29571Gly)
c.86054C>G (p.Ala28685Gly)
c.85973C>G (p.Ala28658Gly)
c.67736C>G (p.Ala22579Gly)
c.57590C>G (p.Ala19197Gly)
2g.178546490G>TCA349469605TTN,TTN-AS1c.87137C>A (p.Ala29046Asp)
c.68222C>A (p.Ala22741Asp)
c.68021C>A (p.Ala22674Asp)
c.67646C>A (p.Ala22549Asp)
c.94841C>A (p.Ala31614Asp)
c.89918C>A (p.Ala29973Asp)
n.446+22854G>T
n.2043+4129G>T
c.93938C>A (p.Ala31313Asp)
c.67832C>A (p.Ala22611Asp)
c.67691C>A (p.Ala22564Asp)
c.93734C>A (p.Ala31245Asp)
c.89132C>A (p.Ala29711Asp)
c.89129C>A (p.Ala29710Asp)
c.86171C>A (p.Ala28724Asp)
c.67787C>A (p.Ala22596Asp)
c.89282C>A (p.Ala29761Asp)
c.89279C>A (p.Ala29760Asp)
c.88712C>A (p.Ala29571Asp)
c.86054C>A (p.Ala28685Asp)
c.85973C>A (p.Ala28658Asp)
c.67736C>A (p.Ala22579Asp)
c.57590C>A (p.Ala19197Asp)
2g.178546491C>ACA349469611TTN,TTN-AS1c.87136G>T (p.Ala29046Ser)
c.68221G>T (p.Ala22741Ser)
c.68020G>T (p.Ala22674Ser)
c.67645G>T (p.Ala22549Ser)
c.94840G>T (p.Ala31614Ser)
c.89917G>T (p.Ala29973Ser)
n.446+22855C>A
n.2043+4130C>A
c.93937G>T (p.Ala31313Ser)
c.67831G>T (p.Ala22611Ser)
c.67690G>T (p.Ala22564Ser)
c.93733G>T (p.Ala31245Ser)
c.89131G>T (p.Ala29711Ser)
c.89128G>T (p.Ala29710Ser)
c.86170G>T (p.Ala28724Ser)
c.67786G>T (p.Ala22596Ser)
c.89281G>T (p.Ala29761Ser)
c.89278G>T (p.Ala29760Ser)
c.88711G>T (p.Ala29571Ser)
c.86053G>T (p.Ala28685Ser)
c.85972G>T (p.Ala28658Ser)
c.67735G>T (p.Ala22579Ser)
c.57589G>T (p.Ala19197Ser)
2g.178546491C=CA1310523129TTN,TTN-AS1c.87136G= (p.Ala29046=)
c.68221G= (p.Ala22741=)
c.68020G= (p.Ala22674=)
c.67645G= (p.Ala22549=)
c.94840G= (p.Ala31614=)
c.89917G= (p.Ala29973=)
n.446+22855C=
n.2043+4130C=
c.93937G= (p.Ala31313=)
c.67831G= (p.Ala22611=)
c.67690G= (p.Ala22564=)
c.93733G= (p.Ala31245=)
c.89131G= (p.Ala29711=)
c.89128G= (p.Ala29710=)
c.86170G= (p.Ala28724=)
c.67786G= (p.Ala22596=)
c.89281G= (p.Ala29761=)
c.89278G= (p.Ala29760=)
c.88711G= (p.Ala29571=)
c.86053G= (p.Ala28685=)
c.85972G= (p.Ala28658=)
c.67735G= (p.Ala22579=)
c.57589G= (p.Ala19197=)
2g.178546491C>GCA349469606TTN,TTN-AS1c.87136G>C (p.Ala29046Pro)
c.68221G>C (p.Ala22741Pro)
c.68020G>C (p.Ala22674Pro)
c.67645G>C (p.Ala22549Pro)
c.94840G>C (p.Ala31614Pro)
c.89917G>C (p.Ala29973Pro)
n.446+22855C>G
n.2043+4130C>G
c.93937G>C (p.Ala31313Pro)
c.67831G>C (p.Ala22611Pro)
c.67690G>C (p.Ala22564Pro)
c.93733G>C (p.Ala31245Pro)
c.89131G>C (p.Ala29711Pro)
c.89128G>C (p.Ala29710Pro)
c.86170G>C (p.Ala28724Pro)
c.67786G>C (p.Ala22596Pro)
c.89281G>C (p.Ala29761Pro)
c.89278G>C (p.Ala29760Pro)
c.88711G>C (p.Ala29571Pro)
c.86053G>C (p.Ala28685Pro)
c.85972G>C (p.Ala28658Pro)
c.67735G>C (p.Ala22579Pro)
c.57589G>C (p.Ala19197Pro)
2g.178546491C>TCA1987058TTN,TTN-AS1c.87136G>A (p.Ala29046Thr)
c.68221G>A (p.Ala22741Thr)
c.68020G>A (p.Ala22674Thr)
c.67645G>A (p.Ala22549Thr)
c.94840G>A (p.Ala31614Thr)
c.89917G>A (p.Ala29973Thr)
n.446+22855C>T
n.2043+4130C>T
c.93937G>A (p.Ala31313Thr)
c.67831G>A (p.Ala22611Thr)
c.67690G>A (p.Ala22564Thr)
c.93733G>A (p.Ala31245Thr)
c.89131G>A (p.Ala29711Thr)
c.89128G>A (p.Ala29710Thr)
c.86170G>A (p.Ala28724Thr)
c.67786G>A (p.Ala22596Thr)
c.89281G>A (p.Ala29761Thr)
c.89278G>A (p.Ala29760Thr)
c.88711G>A (p.Ala29571Thr)
c.86053G>A (p.Ala28685Thr)
c.85972G>A (p.Ala28658Thr)
c.67735G>A (p.Ala22579Thr)
c.57589G>A (p.Ala19197Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546492T>ACA349469618TTN,TTN-AS1c.87135A>T (p.Lys29045Asn)
c.68220A>T (p.Lys22740Asn)
c.68019A>T (p.Lys22673Asn)
c.67644A>T (p.Lys22548Asn)
c.94839A>T (p.Lys31613Asn)
c.89916A>T (p.Lys29972Asn)
n.446+22856T>A
n.2043+4131T>A
c.93936A>T (p.Lys31312Asn)
c.67830A>T (p.Lys22610Asn)
c.67689A>T (p.Lys22563Asn)
c.93732A>T (p.Lys31244Asn)
c.89130A>T (p.Lys29710Asn)
c.89127A>T (p.Lys29709Asn)
c.86169A>T (p.Lys28723Asn)
c.67785A>T (p.Lys22595Asn)
c.89280A>T (p.Lys29760Asn)
c.89277A>T (p.Lys29759Asn)
c.88710A>T (p.Lys29570Asn)
c.86052A>T (p.Lys28684Asn)
c.85971A>T (p.Lys28657Asn)
c.67734A>T (p.Lys22578Asn)
c.57588A>T (p.Lys19196Asn)
2g.178546492T>CCA430242354TTN,TTN-AS1c.87135A>G (p.Lys29045=)
c.68220A>G (p.Lys22740=)
c.68019A>G (p.Lys22673=)
c.67644A>G (p.Lys22548=)
c.94839A>G (p.Lys31613=)
c.89916A>G (p.Lys29972=)
n.446+22856T>C
n.2043+4131T>C
c.93936A>G (p.Lys31312=)
c.67830A>G (p.Lys22610=)
c.67689A>G (p.Lys22563=)
c.93732A>G (p.Lys31244=)
c.89130A>G (p.Lys29710=)
c.89127A>G (p.Lys29709=)
c.86169A>G (p.Lys28723=)
c.67785A>G (p.Lys22595=)
c.89280A>G (p.Lys29760=)
c.89277A>G (p.Lys29759=)
c.88710A>G (p.Lys29570=)
c.86052A>G (p.Lys28684=)
c.85971A>G (p.Lys28657=)
c.67734A>G (p.Lys22578=)
c.57588A>G (p.Lys19196=)
2g.178546492T>GCA349469619TTN,TTN-AS1c.87135A>C (p.Lys29045Asn)
c.68220A>C (p.Lys22740Asn)
c.68019A>C (p.Lys22673Asn)
c.67644A>C (p.Lys22548Asn)
c.94839A>C (p.Lys31613Asn)
c.89916A>C (p.Lys29972Asn)
n.446+22856T>G
n.2043+4131T>G
c.93936A>C (p.Lys31312Asn)
c.67830A>C (p.Lys22610Asn)
c.67689A>C (p.Lys22563Asn)
c.93732A>C (p.Lys31244Asn)
c.89130A>C (p.Lys29710Asn)
c.89127A>C (p.Lys29709Asn)
c.86169A>C (p.Lys28723Asn)
c.67785A>C (p.Lys22595Asn)
c.89280A>C (p.Lys29760Asn)
c.89277A>C (p.Lys29759Asn)
c.88710A>C (p.Lys29570Asn)
c.86052A>C (p.Lys28684Asn)
c.85971A>C (p.Lys28657Asn)
c.67734A>C (p.Lys22578Asn)
c.57588A>C (p.Lys19196Asn)
2g.178546493T>ACA349469631TTN,TTN-AS1c.87134A>T (p.Lys29045Ile)
c.68219A>T (p.Lys22740Ile)
c.68018A>T (p.Lys22673Ile)
c.67643A>T (p.Lys22548Ile)
c.94838A>T (p.Lys31613Ile)
c.89915A>T (p.Lys29972Ile)
n.446+22857T>A
n.2043+4132T>A
c.93935A>T (p.Lys31312Ile)
c.67829A>T (p.Lys22610Ile)
c.67688A>T (p.Lys22563Ile)
c.93731A>T (p.Lys31244Ile)
c.89129A>T (p.Lys29710Ile)
c.89126A>T (p.Lys29709Ile)
c.86168A>T (p.Lys28723Ile)
c.67784A>T (p.Lys22595Ile)
c.89279A>T (p.Lys29760Ile)
c.89276A>T (p.Lys29759Ile)
c.88709A>T (p.Lys29570Ile)
c.86051A>T (p.Lys28684Ile)
c.85970A>T (p.Lys28657Ile)
c.67733A>T (p.Lys22578Ile)
c.57587A>T (p.Lys19196Ile)
2g.178546493T>CCA349469632TTN,TTN-AS1c.87134A>G (p.Lys29045Arg)
c.68219A>G (p.Lys22740Arg)
c.68018A>G (p.Lys22673Arg)
c.67643A>G (p.Lys22548Arg)
c.94838A>G (p.Lys31613Arg)
c.89915A>G (p.Lys29972Arg)
n.446+22857T>C
n.2043+4132T>C
c.93935A>G (p.Lys31312Arg)
c.67829A>G (p.Lys22610Arg)
c.67688A>G (p.Lys22563Arg)
c.93731A>G (p.Lys31244Arg)
c.89129A>G (p.Lys29710Arg)
c.89126A>G (p.Lys29709Arg)
c.86168A>G (p.Lys28723Arg)
c.67784A>G (p.Lys22595Arg)
c.89279A>G (p.Lys29760Arg)
c.89276A>G (p.Lys29759Arg)
c.88709A>G (p.Lys29570Arg)
c.86051A>G (p.Lys28684Arg)
c.85970A>G (p.Lys28657Arg)
c.67733A>G (p.Lys22578Arg)
c.57587A>G (p.Lys19196Arg)
2g.178546493T>GCA349469633TTN,TTN-AS1c.87134A>C (p.Lys29045Thr)
c.68219A>C (p.Lys22740Thr)
c.68018A>C (p.Lys22673Thr)
c.67643A>C (p.Lys22548Thr)
c.94838A>C (p.Lys31613Thr)
c.89915A>C (p.Lys29972Thr)
n.446+22857T>G
n.2043+4132T>G
c.93935A>C (p.Lys31312Thr)
c.67829A>C (p.Lys22610Thr)
c.67688A>C (p.Lys22563Thr)
c.93731A>C (p.Lys31244Thr)
c.89129A>C (p.Lys29710Thr)
c.89126A>C (p.Lys29709Thr)
c.86168A>C (p.Lys28723Thr)
c.67784A>C (p.Lys22595Thr)
c.89279A>C (p.Lys29760Thr)
c.89276A>C (p.Lys29759Thr)
c.88709A>C (p.Lys29570Thr)
c.86051A>C (p.Lys28684Thr)
c.85970A>C (p.Lys28657Thr)
c.67733A>C (p.Lys22578Thr)
c.57587A>C (p.Lys19196Thr)
 gnomAD v4
2g.178546494T>ACA349469634TTN,TTN-AS1c.87133A>T (p.Lys29045Ter)
c.68218A>T (p.Lys22740Ter)
c.68017A>T (p.Lys22673Ter)
c.67642A>T (p.Lys22548Ter)
c.94837A>T (p.Lys31613Ter)
c.89914A>T (p.Lys29972Ter)
n.446+22858T>A
n.2043+4133T>A
c.93934A>T (p.Lys31312Ter)
c.67828A>T (p.Lys22610Ter)
c.67687A>T (p.Lys22563Ter)
c.93730A>T (p.Lys31244Ter)
c.89128A>T (p.Lys29710Ter)
c.89125A>T (p.Lys29709Ter)
c.86167A>T (p.Lys28723Ter)
c.67783A>T (p.Lys22595Ter)
c.89278A>T (p.Lys29760Ter)
c.89275A>T (p.Lys29759Ter)
c.88708A>T (p.Lys29570Ter)
c.86050A>T (p.Lys28684Ter)
c.85969A>T (p.Lys28657Ter)
c.67732A>T (p.Lys22578Ter)
c.57586A>T (p.Lys19196Ter)
2g.178546494T>CCA349469635TTN,TTN-AS1c.87133A>G (p.Lys29045Glu)
c.68218A>G (p.Lys22740Glu)
c.68017A>G (p.Lys22673Glu)
c.67642A>G (p.Lys22548Glu)
c.94837A>G (p.Lys31613Glu)
c.89914A>G (p.Lys29972Glu)
n.446+22858T>C
n.2043+4133T>C
c.93934A>G (p.Lys31312Glu)
c.67828A>G (p.Lys22610Glu)
c.67687A>G (p.Lys22563Glu)
c.93730A>G (p.Lys31244Glu)
c.89128A>G (p.Lys29710Glu)
c.89125A>G (p.Lys29709Glu)
c.86167A>G (p.Lys28723Glu)
c.67783A>G (p.Lys22595Glu)
c.89278A>G (p.Lys29760Glu)
c.89275A>G (p.Lys29759Glu)
c.88708A>G (p.Lys29570Glu)
c.86050A>G (p.Lys28684Glu)
c.85969A>G (p.Lys28657Glu)
c.67732A>G (p.Lys22578Glu)
c.57586A>G (p.Lys19196Glu)
2g.178546494T>GCA349469636TTN,TTN-AS1c.87133A>C (p.Lys29045Gln)
c.68218A>C (p.Lys22740Gln)
c.68017A>C (p.Lys22673Gln)
c.67642A>C (p.Lys22548Gln)
c.94837A>C (p.Lys31613Gln)
c.89914A>C (p.Lys29972Gln)
n.446+22858T>G
n.2043+4133T>G
c.93934A>C (p.Lys31312Gln)
c.67828A>C (p.Lys22610Gln)
c.67687A>C (p.Lys22563Gln)
c.93730A>C (p.Lys31244Gln)
c.89128A>C (p.Lys29710Gln)
c.89125A>C (p.Lys29709Gln)
c.86167A>C (p.Lys28723Gln)
c.67783A>C (p.Lys22595Gln)
c.89278A>C (p.Lys29760Gln)
c.89275A>C (p.Lys29759Gln)
c.88708A>C (p.Lys29570Gln)
c.86050A>C (p.Lys28684Gln)
c.85969A>C (p.Lys28657Gln)
c.67732A>C (p.Lys22578Gln)
c.57586A>C (p.Lys19196Gln)
2g.178546495G>ACA430242357TTN,TTN-AS1c.87132C>T (p.Pro29044=)
c.68217C>T (p.Pro22739=)
c.68016C>T (p.Pro22672=)
c.67641C>T (p.Pro22547=)
c.94836C>T (p.Pro31612=)
c.89913C>T (p.Pro29971=)
n.446+22859G>A
n.2043+4134G>A
c.93933C>T (p.Pro31311=)
c.67827C>T (p.Pro22609=)
c.67686C>T (p.Pro22562=)
c.93729C>T (p.Pro31243=)
c.89127C>T (p.Pro29709=)
c.89124C>T (p.Pro29708=)
c.86166C>T (p.Pro28722=)
c.67782C>T (p.Pro22594=)
c.89277C>T (p.Pro29759=)
c.89274C>T (p.Pro29758=)
c.88707C>T (p.Pro29569=)
c.86049C>T (p.Pro28683=)
c.85968C>T (p.Pro28656=)
c.67731C>T (p.Pro22577=)
c.57585C>T (p.Pro19195=)
 gnomAD v4
2g.178546495G>CCA430242359TTN,TTN-AS1c.87132C>G (p.Pro29044=)
c.68217C>G (p.Pro22739=)
c.68016C>G (p.Pro22672=)
c.67641C>G (p.Pro22547=)
c.94836C>G (p.Pro31612=)
c.89913C>G (p.Pro29971=)
n.446+22859G>C
n.2043+4134G>C
c.93933C>G (p.Pro31311=)
c.67827C>G (p.Pro22609=)
c.67686C>G (p.Pro22562=)
c.93729C>G (p.Pro31243=)
c.89127C>G (p.Pro29709=)
c.89124C>G (p.Pro29708=)
c.86166C>G (p.Pro28722=)
c.67782C>G (p.Pro22594=)
c.89277C>G (p.Pro29759=)
c.89274C>G (p.Pro29758=)
c.88707C>G (p.Pro29569=)
c.86049C>G (p.Pro28683=)
c.85968C>G (p.Pro28656=)
c.67731C>G (p.Pro22577=)
c.57585C>G (p.Pro19195=)
2g.178546495G>TCA430242360TTN,TTN-AS1c.87132C>A (p.Pro29044=)
c.68217C>A (p.Pro22739=)
c.68016C>A (p.Pro22672=)
c.67641C>A (p.Pro22547=)
c.94836C>A (p.Pro31612=)
c.89913C>A (p.Pro29971=)
n.446+22859G>T
n.2043+4134G>T
c.93933C>A (p.Pro31311=)
c.67827C>A (p.Pro22609=)
c.67686C>A (p.Pro22562=)
c.93729C>A (p.Pro31243=)
c.89127C>A (p.Pro29709=)
c.89124C>A (p.Pro29708=)
c.86166C>A (p.Pro28722=)
c.67782C>A (p.Pro22594=)
c.89277C>A (p.Pro29759=)
c.89274C>A (p.Pro29758=)
c.88707C>A (p.Pro29569=)
c.86049C>A (p.Pro28683=)
c.85968C>A (p.Pro28656=)
c.67731C>A (p.Pro22577=)
c.57585C>A (p.Pro19195=)
2g.178546496G>ACA349469638TTN,TTN-AS1c.87131C>T (p.Pro29044Leu)
c.68216C>T (p.Pro22739Leu)
c.68015C>T (p.Pro22672Leu)
c.67640C>T (p.Pro22547Leu)
c.94835C>T (p.Pro31612Leu)
c.89912C>T (p.Pro29971Leu)
n.446+22860G>A
n.2043+4135G>A
c.93932C>T (p.Pro31311Leu)
c.67826C>T (p.Pro22609Leu)
c.67685C>T (p.Pro22562Leu)
c.93728C>T (p.Pro31243Leu)
c.89126C>T (p.Pro29709Leu)
c.89123C>T (p.Pro29708Leu)
c.86165C>T (p.Pro28722Leu)
c.67781C>T (p.Pro22594Leu)
c.89276C>T (p.Pro29759Leu)
c.89273C>T (p.Pro29758Leu)
c.88706C>T (p.Pro29569Leu)
c.86048C>T (p.Pro28683Leu)
c.85967C>T (p.Pro28656Leu)
c.67730C>T (p.Pro22577Leu)
c.57584C>T (p.Pro19195Leu)
2g.178546496G>CCA349469641TTN,TTN-AS1c.87131C>G (p.Pro29044Arg)
c.68216C>G (p.Pro22739Arg)
c.68015C>G (p.Pro22672Arg)
c.67640C>G (p.Pro22547Arg)
c.94835C>G (p.Pro31612Arg)
c.89912C>G (p.Pro29971Arg)
n.446+22860G>C
n.2043+4135G>C
c.93932C>G (p.Pro31311Arg)
c.67826C>G (p.Pro22609Arg)
c.67685C>G (p.Pro22562Arg)
c.93728C>G (p.Pro31243Arg)
c.89126C>G (p.Pro29709Arg)
c.89123C>G (p.Pro29708Arg)
c.86165C>G (p.Pro28722Arg)
c.67781C>G (p.Pro22594Arg)
c.89276C>G (p.Pro29759Arg)
c.89273C>G (p.Pro29758Arg)
c.88706C>G (p.Pro29569Arg)
c.86048C>G (p.Pro28683Arg)
c.85967C>G (p.Pro28656Arg)
c.67730C>G (p.Pro22577Arg)
c.57584C>G (p.Pro19195Arg)
2g.178546496G>TCA349469642TTN,TTN-AS1c.87131C>A (p.Pro29044His)
c.68216C>A (p.Pro22739His)
c.68015C>A (p.Pro22672His)
c.67640C>A (p.Pro22547His)
c.94835C>A (p.Pro31612His)
c.89912C>A (p.Pro29971His)
n.446+22860G>T
n.2043+4135G>T
c.93932C>A (p.Pro31311His)
c.67826C>A (p.Pro22609His)
c.67685C>A (p.Pro22562His)
c.93728C>A (p.Pro31243His)
c.89126C>A (p.Pro29709His)
c.89123C>A (p.Pro29708His)
c.86165C>A (p.Pro28722His)
c.67781C>A (p.Pro22594His)
c.89276C>A (p.Pro29759His)
c.89273C>A (p.Pro29758His)
c.88706C>A (p.Pro29569His)
c.86048C>A (p.Pro28683His)
c.85967C>A (p.Pro28656His)
c.67730C>A (p.Pro22577His)
c.57584C>A (p.Pro19195His)
2g.178546497G>ACA60972416TTN,TTN-AS1c.87130C>T (p.Pro29044Ser)
c.68215C>T (p.Pro22739Ser)
c.68014C>T (p.Pro22672Ser)
c.67639C>T (p.Pro22547Ser)
c.94834C>T (p.Pro31612Ser)
c.89911C>T (p.Pro29971Ser)
n.446+22861G>A
n.2043+4136G>A
c.93931C>T (p.Pro31311Ser)
c.67825C>T (p.Pro22609Ser)
c.67684C>T (p.Pro22562Ser)
c.93727C>T (p.Pro31243Ser)
c.89125C>T (p.Pro29709Ser)
c.89122C>T (p.Pro29708Ser)
c.86164C>T (p.Pro28722Ser)
c.67780C>T (p.Pro22594Ser)
c.89275C>T (p.Pro29759Ser)
c.89272C>T (p.Pro29758Ser)
c.88705C>T (p.Pro29569Ser)
c.86047C>T (p.Pro28683Ser)
c.85966C>T (p.Pro28656Ser)
c.67729C>T (p.Pro22577Ser)
c.57583C>T (p.Pro19195Ser)
 dbSNP
2g.178546497G>CCA349469651TTN,TTN-AS1c.87130C>G (p.Pro29044Ala)
c.68215C>G (p.Pro22739Ala)
c.68014C>G (p.Pro22672Ala)
c.67639C>G (p.Pro22547Ala)
c.94834C>G (p.Pro31612Ala)
c.89911C>G (p.Pro29971Ala)
n.446+22861G>C
n.2043+4136G>C
c.93931C>G (p.Pro31311Ala)
c.67825C>G (p.Pro22609Ala)
c.67684C>G (p.Pro22562Ala)
c.93727C>G (p.Pro31243Ala)
c.89125C>G (p.Pro29709Ala)
c.89122C>G (p.Pro29708Ala)
c.86164C>G (p.Pro28722Ala)
c.67780C>G (p.Pro22594Ala)
c.89275C>G (p.Pro29759Ala)
c.89272C>G (p.Pro29758Ala)
c.88705C>G (p.Pro29569Ala)
c.86047C>G (p.Pro28683Ala)
c.85966C>G (p.Pro28656Ala)
c.67729C>G (p.Pro22577Ala)
c.57583C>G (p.Pro19195Ala)
2g.178546497G=CA1310523130TTN,TTN-AS1c.87130C= (p.Pro29044=)
c.68215C= (p.Pro22739=)
c.68014C= (p.Pro22672=)
c.67639C= (p.Pro22547=)
c.94834C= (p.Pro31612=)
c.89911C= (p.Pro29971=)
n.446+22861G=
n.2043+4136G=
c.93931C= (p.Pro31311=)
c.67825C= (p.Pro22609=)
c.67684C= (p.Pro22562=)
c.93727C= (p.Pro31243=)
c.89125C= (p.Pro29709=)
c.89122C= (p.Pro29708=)
c.86164C= (p.Pro28722=)
c.67780C= (p.Pro22594=)
c.89275C= (p.Pro29759=)
c.89272C= (p.Pro29758=)
c.88705C= (p.Pro29569=)
c.86047C= (p.Pro28683=)
c.85966C= (p.Pro28656=)
c.67729C= (p.Pro22577=)
c.57583C= (p.Pro19195=)
2g.178546497G>TCA349469647TTN,TTN-AS1c.87130C>A (p.Pro29044Thr)
c.68215C>A (p.Pro22739Thr)
c.68014C>A (p.Pro22672Thr)
c.67639C>A (p.Pro22547Thr)
c.94834C>A (p.Pro31612Thr)
c.89911C>A (p.Pro29971Thr)
n.446+22861G>T
n.2043+4136G>T
c.93931C>A (p.Pro31311Thr)
c.67825C>A (p.Pro22609Thr)
c.67684C>A (p.Pro22562Thr)
c.93727C>A (p.Pro31243Thr)
c.89125C>A (p.Pro29709Thr)
c.89122C>A (p.Pro29708Thr)
c.86164C>A (p.Pro28722Thr)
c.67780C>A (p.Pro22594Thr)
c.89275C>A (p.Pro29759Thr)
c.89272C>A (p.Pro29758Thr)
c.88705C>A (p.Pro29569Thr)
c.86047C>A (p.Pro28683Thr)
c.85966C>A (p.Pro28656Thr)
c.67729C>A (p.Pro22577Thr)
c.57583C>A (p.Pro19195Thr)
2g.178546498T>ACA430242363TTN,TTN-AS1c.87129A>T (p.Pro29043=)
c.68214A>T (p.Pro22738=)
c.68013A>T (p.Pro22671=)
c.67638A>T (p.Pro22546=)
c.94833A>T (p.Pro31611=)
c.89910A>T (p.Pro29970=)
n.446+22862T>A
n.2043+4137T>A
c.93930A>T (p.Pro31310=)
c.67824A>T (p.Pro22608=)
c.67683A>T (p.Pro22561=)
c.93726A>T (p.Pro31242=)
c.89124A>T (p.Pro29708=)
c.89121A>T (p.Pro29707=)
c.86163A>T (p.Pro28721=)
c.67779A>T (p.Pro22593=)
c.89274A>T (p.Pro29758=)
c.89271A>T (p.Pro29757=)
c.88704A>T (p.Pro29568=)
c.86046A>T (p.Pro28682=)
c.85965A>T (p.Pro28655=)
c.67728A>T (p.Pro22576=)
c.57582A>T (p.Pro19194=)
2g.178546498T>CCA430242364TTN,TTN-AS1c.87129A>G (p.Pro29043=)
c.68214A>G (p.Pro22738=)
c.68013A>G (p.Pro22671=)
c.67638A>G (p.Pro22546=)
c.94833A>G (p.Pro31611=)
c.89910A>G (p.Pro29970=)
n.446+22862T>C
n.2043+4137T>C
c.93930A>G (p.Pro31310=)
c.67824A>G (p.Pro22608=)
c.67683A>G (p.Pro22561=)
c.93726A>G (p.Pro31242=)
c.89124A>G (p.Pro29708=)
c.89121A>G (p.Pro29707=)
c.86163A>G (p.Pro28721=)
c.67779A>G (p.Pro22593=)
c.89274A>G (p.Pro29758=)
c.89271A>G (p.Pro29757=)
c.88704A>G (p.Pro29568=)
c.86046A>G (p.Pro28682=)
c.85965A>G (p.Pro28655=)
c.67728A>G (p.Pro22576=)
c.57582A>G (p.Pro19194=)
2g.178546498T>GCA430242362TTN,TTN-AS1c.87129A>C (p.Pro29043=)
c.68214A>C (p.Pro22738=)
c.68013A>C (p.Pro22671=)
c.67638A>C (p.Pro22546=)
c.94833A>C (p.Pro31611=)
c.89910A>C (p.Pro29970=)
n.446+22862T>G
n.2043+4137T>G
c.93930A>C (p.Pro31310=)
c.67824A>C (p.Pro22608=)
c.67683A>C (p.Pro22561=)
c.93726A>C (p.Pro31242=)
c.89124A>C (p.Pro29708=)
c.89121A>C (p.Pro29707=)
c.86163A>C (p.Pro28721=)
c.67779A>C (p.Pro22593=)
c.89274A>C (p.Pro29758=)
c.89271A>C (p.Pro29757=)
c.88704A>C (p.Pro29568=)
c.86046A>C (p.Pro28682=)
c.85965A>C (p.Pro28655=)
c.67728A>C (p.Pro22576=)
c.57582A>C (p.Pro19194=)
2g.178546499G>ACA349469659TTN,TTN-AS1c.87128C>T (p.Pro29043Leu)
c.68213C>T (p.Pro22738Leu)
c.68012C>T (p.Pro22671Leu)
c.67637C>T (p.Pro22546Leu)
c.94832C>T (p.Pro31611Leu)
c.89909C>T (p.Pro29970Leu)
n.446+22863G>A
n.2043+4138G>A
c.93929C>T (p.Pro31310Leu)
c.67823C>T (p.Pro22608Leu)
c.67682C>T (p.Pro22561Leu)
c.93725C>T (p.Pro31242Leu)
c.89123C>T (p.Pro29708Leu)
c.89120C>T (p.Pro29707Leu)
c.86162C>T (p.Pro28721Leu)
c.67778C>T (p.Pro22593Leu)
c.89273C>T (p.Pro29758Leu)
c.89270C>T (p.Pro29757Leu)
c.88703C>T (p.Pro29568Leu)
c.86045C>T (p.Pro28682Leu)
c.85964C>T (p.Pro28655Leu)
c.67727C>T (p.Pro22576Leu)
c.57581C>T (p.Pro19194Leu)
2g.178546499G>CCA349469668TTN,TTN-AS1c.87128C>G (p.Pro29043Arg)
c.68213C>G (p.Pro22738Arg)
c.68012C>G (p.Pro22671Arg)
c.67637C>G (p.Pro22546Arg)
c.94832C>G (p.Pro31611Arg)
c.89909C>G (p.Pro29970Arg)
n.446+22863G>C
n.2043+4138G>C
c.93929C>G (p.Pro31310Arg)
c.67823C>G (p.Pro22608Arg)
c.67682C>G (p.Pro22561Arg)
c.93725C>G (p.Pro31242Arg)
c.89123C>G (p.Pro29708Arg)
c.89120C>G (p.Pro29707Arg)
c.86162C>G (p.Pro28721Arg)
c.67778C>G (p.Pro22593Arg)
c.89273C>G (p.Pro29758Arg)
c.89270C>G (p.Pro29757Arg)
c.88703C>G (p.Pro29568Arg)
c.86045C>G (p.Pro28682Arg)
c.85964C>G (p.Pro28655Arg)
c.67727C>G (p.Pro22576Arg)
c.57581C>G (p.Pro19194Arg)
2g.178546499G>TCA349469665TTN,TTN-AS1c.87128C>A (p.Pro29043Gln)
c.68213C>A (p.Pro22738Gln)
c.68012C>A (p.Pro22671Gln)
c.67637C>A (p.Pro22546Gln)
c.94832C>A (p.Pro31611Gln)
c.89909C>A (p.Pro29970Gln)
n.446+22863G>T
n.2043+4138G>T
c.93929C>A (p.Pro31310Gln)
c.67823C>A (p.Pro22608Gln)
c.67682C>A (p.Pro22561Gln)
c.93725C>A (p.Pro31242Gln)
c.89123C>A (p.Pro29708Gln)
c.89120C>A (p.Pro29707Gln)
c.86162C>A (p.Pro28721Gln)
c.67778C>A (p.Pro22593Gln)
c.89273C>A (p.Pro29758Gln)
c.89270C>A (p.Pro29757Gln)
c.88703C>A (p.Pro29568Gln)
c.86045C>A (p.Pro28682Gln)
c.85964C>A (p.Pro28655Gln)
c.67727C>A (p.Pro22576Gln)
c.57581C>A (p.Pro19194Gln)
2g.178546500G>ACA349469678TTN,TTN-AS1c.87127C>T (p.Pro29043Ser)
c.68212C>T (p.Pro22738Ser)
c.68011C>T (p.Pro22671Ser)
c.67636C>T (p.Pro22546Ser)
c.94831C>T (p.Pro31611Ser)
c.89908C>T (p.Pro29970Ser)
n.446+22864G>A
n.2043+4139G>A
c.93928C>T (p.Pro31310Ser)
c.67822C>T (p.Pro22608Ser)
c.67681C>T (p.Pro22561Ser)
c.93724C>T (p.Pro31242Ser)
c.89122C>T (p.Pro29708Ser)
c.89119C>T (p.Pro29707Ser)
c.86161C>T (p.Pro28721Ser)
c.67777C>T (p.Pro22593Ser)
c.89272C>T (p.Pro29758Ser)
c.89269C>T (p.Pro29757Ser)
c.88702C>T (p.Pro29568Ser)
c.86044C>T (p.Pro28682Ser)
c.85963C>T (p.Pro28655Ser)
c.67726C>T (p.Pro22576Ser)
c.57580C>T (p.Pro19194Ser)
2g.178546500G>CCA349469699TTN,TTN-AS1c.87127C>G (p.Pro29043Ala)
c.68212C>G (p.Pro22738Ala)
c.68011C>G (p.Pro22671Ala)
c.67636C>G (p.Pro22546Ala)
c.94831C>G (p.Pro31611Ala)
c.89908C>G (p.Pro29970Ala)
n.446+22864G>C
n.2043+4139G>C
c.93928C>G (p.Pro31310Ala)
c.67822C>G (p.Pro22608Ala)
c.67681C>G (p.Pro22561Ala)
c.93724C>G (p.Pro31242Ala)
c.89122C>G (p.Pro29708Ala)
c.89119C>G (p.Pro29707Ala)
c.86161C>G (p.Pro28721Ala)
c.67777C>G (p.Pro22593Ala)
c.89272C>G (p.Pro29758Ala)
c.89269C>G (p.Pro29757Ala)
c.88702C>G (p.Pro29568Ala)
c.86044C>G (p.Pro28682Ala)
c.85963C>G (p.Pro28655Ala)
c.67726C>G (p.Pro22576Ala)
c.57580C>G (p.Pro19194Ala)
2g.178546500G>TCA349469693TTN,TTN-AS1c.87127C>A (p.Pro29043Thr)
c.68212C>A (p.Pro22738Thr)
c.68011C>A (p.Pro22671Thr)
c.67636C>A (p.Pro22546Thr)
c.94831C>A (p.Pro31611Thr)
c.89908C>A (p.Pro29970Thr)
n.446+22864G>T
n.2043+4139G>T
c.93928C>A (p.Pro31310Thr)
c.67822C>A (p.Pro22608Thr)
c.67681C>A (p.Pro22561Thr)
c.93724C>A (p.Pro31242Thr)
c.89122C>A (p.Pro29708Thr)
c.89119C>A (p.Pro29707Thr)
c.86161C>A (p.Pro28721Thr)
c.67777C>A (p.Pro22593Thr)
c.89272C>A (p.Pro29758Thr)
c.89269C>A (p.Pro29757Thr)
c.88702C>A (p.Pro29568Thr)
c.86044C>A (p.Pro28682Thr)
c.85963C>A (p.Pro28655Thr)
c.67726C>A (p.Pro22576Thr)
c.57580C>A (p.Pro19194Thr)
 gnomAD v4
2g.178546501A>CCA430242370TTN,TTN-AS1c.87126T>G (p.Ala29042=)
c.68211T>G (p.Ala22737=)
c.68010T>G (p.Ala22670=)
c.67635T>G (p.Ala22545=)
c.94830T>G (p.Ala31610=)
c.89907T>G (p.Ala29969=)
n.446+22865A>C
n.2043+4140A>C
c.93927T>G (p.Ala31309=)
c.67821T>G (p.Ala22607=)
c.67680T>G (p.Ala22560=)
c.93723T>G (p.Ala31241=)
c.89121T>G (p.Ala29707=)
c.89118T>G (p.Ala29706=)
c.86160T>G (p.Ala28720=)
c.67776T>G (p.Ala22592=)
c.89271T>G (p.Ala29757=)
c.89268T>G (p.Ala29756=)
c.88701T>G (p.Ala29567=)
c.86043T>G (p.Ala28681=)
c.85962T>G (p.Ala28654=)
c.67725T>G (p.Ala22575=)
c.57579T>G (p.Ala19193=)
2g.178546501A>GCA430242369TTN,TTN-AS1c.87126T>C (p.Ala29042=)
c.68211T>C (p.Ala22737=)
c.68010T>C (p.Ala22670=)
c.67635T>C (p.Ala22545=)
c.94830T>C (p.Ala31610=)
c.89907T>C (p.Ala29969=)
n.446+22865A>G
n.2043+4140A>G
c.93927T>C (p.Ala31309=)
c.67821T>C (p.Ala22607=)
c.67680T>C (p.Ala22560=)
c.93723T>C (p.Ala31241=)
c.89121T>C (p.Ala29707=)
c.89118T>C (p.Ala29706=)
c.86160T>C (p.Ala28720=)
c.67776T>C (p.Ala22592=)
c.89271T>C (p.Ala29757=)
c.89268T>C (p.Ala29756=)
c.88701T>C (p.Ala29567=)
c.86043T>C (p.Ala28681=)
c.85962T>C (p.Ala28654=)
c.67725T>C (p.Ala22575=)
c.57579T>C (p.Ala19193=)
2g.178546501A>TCA430242368TTN,TTN-AS1c.87126T>A (p.Ala29042=)
c.68211T>A (p.Ala22737=)
c.68010T>A (p.Ala22670=)
c.67635T>A (p.Ala22545=)
c.94830T>A (p.Ala31610=)
c.89907T>A (p.Ala29969=)
n.446+22865A>T
n.2043+4140A>T
c.93927T>A (p.Ala31309=)
c.67821T>A (p.Ala22607=)
c.67680T>A (p.Ala22560=)
c.93723T>A (p.Ala31241=)
c.89121T>A (p.Ala29707=)
c.89118T>A (p.Ala29706=)
c.86160T>A (p.Ala28720=)
c.67776T>A (p.Ala22592=)
c.89271T>A (p.Ala29757=)
c.89268T>A (p.Ala29756=)
c.88701T>A (p.Ala29567=)
c.86043T>A (p.Ala28681=)
c.85962T>A (p.Ala28654=)
c.67725T>A (p.Ala22575=)
c.57579T>A (p.Ala19193=)
2g.178546502G>ACA349469703TTN,TTN-AS1c.87125C>T (p.Ala29042Val)
c.68210C>T (p.Ala22737Val)
c.68009C>T (p.Ala22670Val)
c.67634C>T (p.Ala22545Val)
c.94829C>T (p.Ala31610Val)
c.89906C>T (p.Ala29969Val)
n.446+22866G>A
n.2043+4141G>A
c.93926C>T (p.Ala31309Val)
c.67820C>T (p.Ala22607Val)
c.67679C>T (p.Ala22560Val)
c.93722C>T (p.Ala31241Val)
c.89120C>T (p.Ala29707Val)
c.89117C>T (p.Ala29706Val)
c.86159C>T (p.Ala28720Val)
c.67775C>T (p.Ala22592Val)
c.89270C>T (p.Ala29757Val)
c.89267C>T (p.Ala29756Val)
c.88700C>T (p.Ala29567Val)
c.86042C>T (p.Ala28681Val)
c.85961C>T (p.Ala28654Val)
c.67724C>T (p.Ala22575Val)
c.57578C>T (p.Ala19193Val)
2g.178546502G>CCA349469721TTN,TTN-AS1c.87125C>G (p.Ala29042Gly)
c.68210C>G (p.Ala22737Gly)
c.68009C>G (p.Ala22670Gly)
c.67634C>G (p.Ala22545Gly)
c.94829C>G (p.Ala31610Gly)
c.89906C>G (p.Ala29969Gly)
n.446+22866G>C
n.2043+4141G>C
c.93926C>G (p.Ala31309Gly)
c.67820C>G (p.Ala22607Gly)
c.67679C>G (p.Ala22560Gly)
c.93722C>G (p.Ala31241Gly)
c.89120C>G (p.Ala29707Gly)
c.89117C>G (p.Ala29706Gly)
c.86159C>G (p.Ala28720Gly)
c.67775C>G (p.Ala22592Gly)
c.89270C>G (p.Ala29757Gly)
c.89267C>G (p.Ala29756Gly)
c.88700C>G (p.Ala29567Gly)
c.86042C>G (p.Ala28681Gly)
c.85961C>G (p.Ala28654Gly)
c.67724C>G (p.Ala22575Gly)
c.57578C>G (p.Ala19193Gly)
2g.178546502G>TCA349469724TTN,TTN-AS1c.87125C>A (p.Ala29042Asp)
c.68210C>A (p.Ala22737Asp)
c.68009C>A (p.Ala22670Asp)
c.67634C>A (p.Ala22545Asp)
c.94829C>A (p.Ala31610Asp)
c.89906C>A (p.Ala29969Asp)
n.446+22866G>T
n.2043+4141G>T
c.93926C>A (p.Ala31309Asp)
c.67820C>A (p.Ala22607Asp)
c.67679C>A (p.Ala22560Asp)
c.93722C>A (p.Ala31241Asp)
c.89120C>A (p.Ala29707Asp)
c.89117C>A (p.Ala29706Asp)
c.86159C>A (p.Ala28720Asp)
c.67775C>A (p.Ala22592Asp)
c.89270C>A (p.Ala29757Asp)
c.89267C>A (p.Ala29756Asp)
c.88700C>A (p.Ala29567Asp)
c.86042C>A (p.Ala28681Asp)
c.85961C>A (p.Ala28654Asp)
c.67724C>A (p.Ala22575Asp)
c.57578C>A (p.Ala19193Asp)
2g.178546503C>ACA349469735TTN,TTN-AS1c.87125-1G>T (n.87125-1G>T)
c.68210-1G>T (n.68210-1G>T)
c.68009-1G>T (n.68009-1G>T)
c.67634-1G>T (n.67634-1G>T)
c.94829-1G>T (n.94829-1G>T)
c.89906-1G>T (n.89906-1G>T)
n.446+22867C>A
n.2043+4142C>A
c.93926-1G>T (n.93926-1G>T)
c.67820-1G>T (n.67820-1G>T)
c.67679-1G>T (n.67679-1G>T)
c.93722-1G>T (n.93722-1G>T)
c.89120-1G>T (n.89120-1G>T)
c.89117-1G>T (n.89117-1G>T)
c.86159-1G>T (n.86159-1G>T)
c.67775-1G>T (n.67775-1G>T)
c.89270-1G>T (n.89270-1G>T)
c.89267-1G>T (n.89267-1G>T)
c.88700-1G>T (n.88700-1G>T)
c.86042-1G>T (n.86042-1G>T)
c.85961-1G>T (n.85961-1G>T)
c.67724-1G>T (n.67724-1G>T)
c.57578-1G>T (n.57578-1G>T)
2g.178546503C>GCA349469739TTN,TTN-AS1c.87125-1G>C (n.87125-1G>C)
c.68210-1G>C (n.68210-1G>C)
c.68009-1G>C (n.68009-1G>C)
c.67634-1G>C (n.67634-1G>C)
c.94829-1G>C (n.94829-1G>C)
c.89906-1G>C (n.89906-1G>C)
n.446+22867C>G
n.2043+4142C>G
c.93926-1G>C (n.93926-1G>C)
c.67820-1G>C (n.67820-1G>C)
c.67679-1G>C (n.67679-1G>C)
c.93722-1G>C (n.93722-1G>C)
c.89120-1G>C (n.89120-1G>C)
c.89117-1G>C (n.89117-1G>C)
c.86159-1G>C (n.86159-1G>C)
c.67775-1G>C (n.67775-1G>C)
c.89270-1G>C (n.89270-1G>C)
c.89267-1G>C (n.89267-1G>C)
c.88700-1G>C (n.88700-1G>C)
c.86042-1G>C (n.86042-1G>C)
c.85961-1G>C (n.85961-1G>C)
c.67724-1G>C (n.67724-1G>C)
c.57578-1G>C (n.57578-1G>C)
2g.178546503C>TCA349469746TTN,TTN-AS1c.87125-1G>A (n.87125-1G>A)
c.68210-1G>A (n.68210-1G>A)
c.68009-1G>A (n.68009-1G>A)
c.67634-1G>A (n.67634-1G>A)
c.94829-1G>A (n.94829-1G>A)
c.89906-1G>A (n.89906-1G>A)
n.446+22867C>T
n.2043+4142C>T
c.93926-1G>A (n.93926-1G>A)
c.67820-1G>A (n.67820-1G>A)
c.67679-1G>A (n.67679-1G>A)
c.93722-1G>A (n.93722-1G>A)
c.89120-1G>A (n.89120-1G>A)
c.89117-1G>A (n.89117-1G>A)
c.86159-1G>A (n.86159-1G>A)
c.67775-1G>A (n.67775-1G>A)
c.89270-1G>A (n.89270-1G>A)
c.89267-1G>A (n.89267-1G>A)
c.88700-1G>A (n.88700-1G>A)
c.86042-1G>A (n.86042-1G>A)
c.85961-1G>A (n.85961-1G>A)
c.67724-1G>A (n.67724-1G>A)
c.57578-1G>A (n.57578-1G>A)
 gnomAD v4
2g.178546504_178546600delCA2753330800TTN,TTN-AS1c.87124+1_87125-1del
c.68209+1_68210-1del
c.68008+1_68009-1del
c.67633+1_67634-1del
c.94828+1_94829-1del
c.89905+1_89906-1del
n.446+22868_446+22964del
n.2043+4143_2043+4239del
c.93925+1_93926-1del
c.67819+1_67820-1del
c.67678+1_67679-1del
c.93721+1_93722-1del
c.89119+1_89120-1del
c.89116+1_89117-1del
c.86158+1_86159-1del
c.67774+1_67775-1del
c.89269+1_89270-1del
c.89266+1_89267-1del
c.88699+1_88700-1del
c.86041+1_86042-1del
c.85960+1_85961-1del
c.67723+1_67724-1del
c.57577+1_57578-1del
2g.178546504T>ACA349469749TTN,TTN-AS1c.87125-2A>T (n.87125-2A>T)
c.68210-2A>T (n.68210-2A>T)
c.68009-2A>T (n.68009-2A>T)
c.67634-2A>T (n.67634-2A>T)
c.94829-2A>T (n.94829-2A>T)
c.89906-2A>T (n.89906-2A>T)
n.446+22868T>A
n.2043+4143T>A
c.93926-2A>T (n.93926-2A>T)
c.67820-2A>T (n.67820-2A>T)
c.67679-2A>T (n.67679-2A>T)
c.93722-2A>T (n.93722-2A>T)
c.89120-2A>T (n.89120-2A>T)
c.89117-2A>T (n.89117-2A>T)
c.86159-2A>T (n.86159-2A>T)
c.67775-2A>T (n.67775-2A>T)
c.89270-2A>T (n.89270-2A>T)
c.89267-2A>T (n.89267-2A>T)
c.88700-2A>T (n.88700-2A>T)
c.86042-2A>T (n.86042-2A>T)
c.85961-2A>T (n.85961-2A>T)
c.67724-2A>T (n.67724-2A>T)
c.57578-2A>T (n.57578-2A>T)
2g.178546504T>CCA349469755TTN,TTN-AS1c.87125-2A>G (n.87125-2A>G)
c.68210-2A>G (n.68210-2A>G)
c.68009-2A>G (n.68009-2A>G)
c.67634-2A>G (n.67634-2A>G)
c.94829-2A>G (n.94829-2A>G)
c.89906-2A>G (n.89906-2A>G)
n.446+22868T>C
n.2043+4143T>C
c.93926-2A>G (n.93926-2A>G)
c.67820-2A>G (n.67820-2A>G)
c.67679-2A>G (n.67679-2A>G)
c.93722-2A>G (n.93722-2A>G)
c.89120-2A>G (n.89120-2A>G)
c.89117-2A>G (n.89117-2A>G)
c.86159-2A>G (n.86159-2A>G)
c.67775-2A>G (n.67775-2A>G)
c.89270-2A>G (n.89270-2A>G)
c.89267-2A>G (n.89267-2A>G)
c.88700-2A>G (n.88700-2A>G)
c.86042-2A>G (n.86042-2A>G)
c.85961-2A>G (n.85961-2A>G)
c.67724-2A>G (n.67724-2A>G)
c.57578-2A>G (n.57578-2A>G)
 gnomAD v4
2g.178546504T>GCA349469756TTN,TTN-AS1c.87125-2A>C (n.87125-2A>C)
c.68210-2A>C (n.68210-2A>C)
c.68009-2A>C (n.68009-2A>C)
c.67634-2A>C (n.67634-2A>C)
c.94829-2A>C (n.94829-2A>C)
c.89906-2A>C (n.89906-2A>C)
n.446+22868T>G
n.2043+4143T>G
c.93926-2A>C (n.93926-2A>C)
c.67820-2A>C (n.67820-2A>C)
c.67679-2A>C (n.67679-2A>C)
c.93722-2A>C (n.93722-2A>C)
c.89120-2A>C (n.89120-2A>C)
c.89117-2A>C (n.89117-2A>C)
c.86159-2A>C (n.86159-2A>C)
c.67775-2A>C (n.67775-2A>C)
c.89270-2A>C (n.89270-2A>C)
c.89267-2A>C (n.89267-2A>C)
c.88700-2A>C (n.88700-2A>C)
c.86042-2A>C (n.86042-2A>C)
c.85961-2A>C (n.85961-2A>C)
c.67724-2A>C (n.67724-2A>C)
c.57578-2A>C (n.57578-2A>C)
2g.178546505G>ACA1987059TTN,TTN-AS1c.87125-3C>T (n.87125-3C>T)
c.68210-3C>T (n.68210-3C>T)
c.68009-3C>T (n.68009-3C>T)
c.67634-3C>T (n.67634-3C>T)
c.94829-3C>T (n.94829-3C>T)
c.89906-3C>T (n.89906-3C>T)
n.446+22869G>A
n.2043+4144G>A
c.93926-3C>T (n.93926-3C>T)
c.67820-3C>T (n.67820-3C>T)
c.67679-3C>T (n.67679-3C>T)
c.93722-3C>T (n.93722-3C>T)
c.89120-3C>T (n.89120-3C>T)
c.89117-3C>T (n.89117-3C>T)
c.86159-3C>T (n.86159-3C>T)
c.67775-3C>T (n.67775-3C>T)
c.89270-3C>T (n.89270-3C>T)
c.89267-3C>T (n.89267-3C>T)
c.88700-3C>T (n.88700-3C>T)
c.86042-3C>T (n.86042-3C>T)
c.85961-3C>T (n.85961-3C>T)
c.67724-3C>T (n.67724-3C>T)
c.57578-3C>T (n.57578-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546505G=CA1310523132TTN,TTN-AS1c.87125-3C= (n.87125-3C=)
c.68210-3C= (n.68210-3C=)
c.68009-3C= (n.68009-3C=)
c.67634-3C= (n.67634-3C=)
c.94829-3C= (n.94829-3C=)
c.89906-3C= (n.89906-3C=)
n.446+22869G=
n.2043+4144G=
c.93926-3C= (n.93926-3C=)
c.67820-3C= (n.67820-3C=)
c.67679-3C= (n.67679-3C=)
c.93722-3C= (n.93722-3C=)
c.89120-3C= (n.89120-3C=)
c.89117-3C= (n.89117-3C=)
c.86159-3C= (n.86159-3C=)
c.67775-3C= (n.67775-3C=)
c.89270-3C= (n.89270-3C=)
c.89267-3C= (n.89267-3C=)
c.88700-3C= (n.88700-3C=)
c.86042-3C= (n.86042-3C=)
c.85961-3C= (n.85961-3C=)
c.67724-3C= (n.67724-3C=)
c.57578-3C= (n.57578-3C=)
2g.178546509G>ACA2662126014TTN,TTN-AS1c.87125-7C>T (n.87125-7C>T)
c.68210-7C>T (n.68210-7C>T)
c.68009-7C>T (n.68009-7C>T)
c.67634-7C>T (n.67634-7C>T)
c.94829-7C>T (n.94829-7C>T)
c.89906-7C>T (n.89906-7C>T)
n.446+22873G>A
n.2043+4148G>A
c.93926-7C>T (n.93926-7C>T)
c.67820-7C>T (n.67820-7C>T)
c.67679-7C>T (n.67679-7C>T)
c.93722-7C>T (n.93722-7C>T)
c.89120-7C>T (n.89120-7C>T)
c.89117-7C>T (n.89117-7C>T)
c.86159-7C>T (n.86159-7C>T)
c.67775-7C>T (n.67775-7C>T)
c.89270-7C>T (n.89270-7C>T)
c.89267-7C>T (n.89267-7C>T)
c.88700-7C>T (n.88700-7C>T)
c.86042-7C>T (n.86042-7C>T)
c.85961-7C>T (n.85961-7C>T)
c.67724-7C>T (n.67724-7C>T)
c.57578-7C>T (n.57578-7C>T)
 gnomAD v4
2g.178546509G=CA1310523133TTN,TTN-AS1c.87125-7C= (n.87125-7C=)
c.68210-7C= (n.68210-7C=)
c.68009-7C= (n.68009-7C=)
c.67634-7C= (n.67634-7C=)
c.94829-7C= (n.94829-7C=)
c.89906-7C= (n.89906-7C=)
n.446+22873G=
n.2043+4148G=
c.93926-7C= (n.93926-7C=)
c.67820-7C= (n.67820-7C=)
c.67679-7C= (n.67679-7C=)
c.93722-7C= (n.93722-7C=)
c.89120-7C= (n.89120-7C=)
c.89117-7C= (n.89117-7C=)
c.86159-7C= (n.86159-7C=)
c.67775-7C= (n.67775-7C=)
c.89270-7C= (n.89270-7C=)
c.89267-7C= (n.89267-7C=)
c.88700-7C= (n.88700-7C=)
c.86042-7C= (n.86042-7C=)
c.85961-7C= (n.85961-7C=)
c.67724-7C= (n.67724-7C=)
c.57578-7C= (n.57578-7C=)
2g.178546509G>TCA538435116TTN,TTN-AS1c.87125-7C>A (n.87125-7C>A)
c.68210-7C>A (n.68210-7C>A)
c.68009-7C>A (n.68009-7C>A)
c.67634-7C>A (n.67634-7C>A)
c.94829-7C>A (n.94829-7C>A)
c.89906-7C>A (n.89906-7C>A)
n.446+22873G>T
n.2043+4148G>T
c.93926-7C>A (n.93926-7C>A)
c.67820-7C>A (n.67820-7C>A)
c.67679-7C>A (n.67679-7C>A)
c.93722-7C>A (n.93722-7C>A)
c.89120-7C>A (n.89120-7C>A)
c.89117-7C>A (n.89117-7C>A)
c.86159-7C>A (n.86159-7C>A)
c.67775-7C>A (n.67775-7C>A)
c.89270-7C>A (n.89270-7C>A)
c.89267-7C>A (n.89267-7C>A)
c.88700-7C>A (n.88700-7C>A)
c.86042-7C>A (n.86042-7C>A)
c.85961-7C>A (n.85961-7C>A)
c.67724-7C>A (n.67724-7C>A)
c.57578-7C>A (n.57578-7C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546511A=CA1310523136TTN,TTN-AS1c.87125-9T= (n.87125-9T=)
c.68210-9T= (n.68210-9T=)
c.68009-9T= (n.68009-9T=)
c.67634-9T= (n.67634-9T=)
c.94829-9T= (n.94829-9T=)
c.89906-9T= (n.89906-9T=)
n.446+22875A=
n.2043+4150A=
c.93926-9T= (n.93926-9T=)
c.67820-9T= (n.67820-9T=)
c.67679-9T= (n.67679-9T=)
c.93722-9T= (n.93722-9T=)
c.89120-9T= (n.89120-9T=)
c.89117-9T= (n.89117-9T=)
c.86159-9T= (n.86159-9T=)
c.67775-9T= (n.67775-9T=)
c.89270-9T= (n.89270-9T=)
c.89267-9T= (n.89267-9T=)
c.88700-9T= (n.88700-9T=)
c.86042-9T= (n.86042-9T=)
c.85961-9T= (n.85961-9T=)
c.67724-9T= (n.67724-9T=)
c.57578-9T= (n.57578-9T=)
2g.178546511A>GCA1310523135TTN,TTN-AS1c.87125-9T>C (n.87125-9T>C)
c.68210-9T>C (n.68210-9T>C)
c.68009-9T>C (n.68009-9T>C)
c.67634-9T>C (n.67634-9T>C)
c.94829-9T>C (n.94829-9T>C)
c.89906-9T>C (n.89906-9T>C)
n.446+22875A>G
n.2043+4150A>G
c.93926-9T>C (n.93926-9T>C)
c.67820-9T>C (n.67820-9T>C)
c.67679-9T>C (n.67679-9T>C)
c.93722-9T>C (n.93722-9T>C)
c.89120-9T>C (n.89120-9T>C)
c.89117-9T>C (n.89117-9T>C)
c.86159-9T>C (n.86159-9T>C)
c.67775-9T>C (n.67775-9T>C)
c.89270-9T>C (n.89270-9T>C)
c.89267-9T>C (n.89267-9T>C)
c.88700-9T>C (n.88700-9T>C)
c.86042-9T>C (n.86042-9T>C)
c.85961-9T>C (n.85961-9T>C)
c.67724-9T>C (n.67724-9T>C)
c.57578-9T>C (n.57578-9T>C)
 dbSNP
2g.178546512G>ACA1987060TTN,TTN-AS1c.87125-10C>T (n.87125-10C>T)
c.68210-10C>T (n.68210-10C>T)
c.68009-10C>T (n.68009-10C>T)
c.67634-10C>T (n.67634-10C>T)
c.94829-10C>T (n.94829-10C>T)
c.89906-10C>T (n.89906-10C>T)
n.446+22876G>A
n.2043+4151G>A
c.93926-10C>T (n.93926-10C>T)
c.67820-10C>T (n.67820-10C>T)
c.67679-10C>T (n.67679-10C>T)
c.93722-10C>T (n.93722-10C>T)
c.89120-10C>T (n.89120-10C>T)
c.89117-10C>T (n.89117-10C>T)
c.86159-10C>T (n.86159-10C>T)
c.67775-10C>T (n.67775-10C>T)
c.89270-10C>T (n.89270-10C>T)
c.89267-10C>T (n.89267-10C>T)
c.88700-10C>T (n.88700-10C>T)
c.86042-10C>T (n.86042-10C>T)
c.85961-10C>T (n.85961-10C>T)
c.67724-10C>T (n.67724-10C>T)
c.57578-10C>T (n.57578-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546512G=CA1310523138TTN,TTN-AS1c.87125-10C= (n.87125-10C=)
c.68210-10C= (n.68210-10C=)
c.68009-10C= (n.68009-10C=)
c.67634-10C= (n.67634-10C=)
c.94829-10C= (n.94829-10C=)
c.89906-10C= (n.89906-10C=)
n.446+22876G=
n.2043+4151G=
c.93926-10C= (n.93926-10C=)
c.67820-10C= (n.67820-10C=)
c.67679-10C= (n.67679-10C=)
c.93722-10C= (n.93722-10C=)
c.89120-10C= (n.89120-10C=)
c.89117-10C= (n.89117-10C=)
c.86159-10C= (n.86159-10C=)
c.67775-10C= (n.67775-10C=)
c.89270-10C= (n.89270-10C=)
c.89267-10C= (n.89267-10C=)
c.88700-10C= (n.88700-10C=)
c.86042-10C= (n.86042-10C=)
c.85961-10C= (n.85961-10C=)
c.67724-10C= (n.67724-10C=)
c.57578-10C= (n.57578-10C=)
2g.178546518delCA2662126018TTN,TTN-AS1c.87125-13del (n.87125-13del)
c.68210-13del (n.68210-13del)
c.68009-13del (n.68009-13del)
c.67634-13del (n.67634-13del)
c.94829-13del (n.94829-13del)
c.89906-13del (n.89906-13del)
n.446+22882del
n.2043+4157del
c.93926-13del (n.93926-13del)
c.67820-13del (n.67820-13del)
c.67679-13del (n.67679-13del)
c.93722-13del (n.93722-13del)
c.89120-13del (n.89120-13del)
c.89117-13del (n.89117-13del)
c.86159-13del (n.86159-13del)
c.67775-13del (n.67775-13del)
c.89270-13del (n.89270-13del)
c.89267-13del (n.89267-13del)
c.88700-13del (n.88700-13del)
c.86042-13del (n.86042-13del)
c.85961-13del (n.85961-13del)
c.67724-13del (n.67724-13del)
c.57578-13del (n.57578-13del)
 gnomAD v4
2g.178546517A>GCA430242375TTN,TTN-AS1c.87125-15T>C (n.87125-15T>C)
c.68210-15T>C (n.68210-15T>C)
c.68009-15T>C (n.68009-15T>C)
c.67634-15T>C (n.67634-15T>C)
c.94829-15T>C (n.94829-15T>C)
c.89906-15T>C (n.89906-15T>C)
n.446+22881A>G
n.2043+4156A>G
c.93926-15T>C (n.93926-15T>C)
c.67820-15T>C (n.67820-15T>C)
c.67679-15T>C (n.67679-15T>C)
c.93722-15T>C (n.93722-15T>C)
c.89120-15T>C (n.89120-15T>C)
c.89117-15T>C (n.89117-15T>C)
c.86159-15T>C (n.86159-15T>C)
c.67775-15T>C (n.67775-15T>C)
c.89270-15T>C (n.89270-15T>C)
c.89267-15T>C (n.89267-15T>C)
c.88700-15T>C (n.88700-15T>C)
c.86042-15T>C (n.86042-15T>C)
c.85961-15T>C (n.85961-15T>C)
c.67724-15T>C (n.67724-15T>C)
c.57578-15T>C (n.57578-15T>C)
2g.178546519delCA2573134089TTN,TTN-AS1c.87125-17del (n.87125-17del)
c.68210-17del (n.68210-17del)
c.68009-17del (n.68009-17del)
c.67634-17del (n.67634-17del)
c.94829-17del (n.94829-17del)
c.89906-17del (n.89906-17del)
n.446+22883del
n.2043+4158del
c.93926-17del (n.93926-17del)
c.67820-17del (n.67820-17del)
c.67679-17del (n.67679-17del)
c.93722-17del (n.93722-17del)
c.89120-17del (n.89120-17del)
c.89117-17del (n.89117-17del)
c.86159-17del (n.86159-17del)
c.67775-17del (n.67775-17del)
c.89270-17del (n.89270-17del)
c.89267-17del (n.89267-17del)
c.88700-17del (n.88700-17del)
c.86042-17del (n.86042-17del)
c.85961-17del (n.85961-17del)
c.67724-17del (n.67724-17del)
c.57578-17del (n.57578-17del)
 ClinVar dbSNP gnomAD v4
2g.178546519C>ACA60972426TTN,TTN-AS1c.87125-17G>T (n.87125-17G>T)
c.68210-17G>T (n.68210-17G>T)
c.68009-17G>T (n.68009-17G>T)
c.67634-17G>T (n.67634-17G>T)
c.94829-17G>T (n.94829-17G>T)
c.89906-17G>T (n.89906-17G>T)
n.446+22883C>A
n.2043+4158C>A
c.93926-17G>T (n.93926-17G>T)
c.67820-17G>T (n.67820-17G>T)
c.67679-17G>T (n.67679-17G>T)
c.93722-17G>T (n.93722-17G>T)
c.89120-17G>T (n.89120-17G>T)
c.89117-17G>T (n.89117-17G>T)
c.86159-17G>T (n.86159-17G>T)
c.67775-17G>T (n.67775-17G>T)
c.89270-17G>T (n.89270-17G>T)
c.89267-17G>T (n.89267-17G>T)
c.88700-17G>T (n.88700-17G>T)
c.86042-17G>T (n.86042-17G>T)
c.85961-17G>T (n.85961-17G>T)
c.67724-17G>T (n.67724-17G>T)
c.57578-17G>T (n.57578-17G>T)
 dbSNP
2g.178546519C=CA1310523140TTN,TTN-AS1c.87125-17G= (n.87125-17G=)
c.68210-17G= (n.68210-17G=)
c.68009-17G= (n.68009-17G=)
c.67634-17G= (n.67634-17G=)
c.94829-17G= (n.94829-17G=)
c.89906-17G= (n.89906-17G=)
n.446+22883C=
n.2043+4158C=
c.93926-17G= (n.93926-17G=)
c.67820-17G= (n.67820-17G=)
c.67679-17G= (n.67679-17G=)
c.93722-17G= (n.93722-17G=)
c.89120-17G= (n.89120-17G=)
c.89117-17G= (n.89117-17G=)
c.86159-17G= (n.86159-17G=)
c.67775-17G= (n.67775-17G=)
c.89270-17G= (n.89270-17G=)
c.89267-17G= (n.89267-17G=)
c.88700-17G= (n.88700-17G=)
c.86042-17G= (n.86042-17G=)
c.85961-17G= (n.85961-17G=)
c.67724-17G= (n.67724-17G=)
c.57578-17G= (n.57578-17G=)
2g.178546519C>GCA2542967865TTN,TTN-AS1c.87125-17G>C (n.87125-17G>C)
c.68210-17G>C (n.68210-17G>C)
c.68009-17G>C (n.68009-17G>C)
c.67634-17G>C (n.67634-17G>C)
c.94829-17G>C (n.94829-17G>C)
c.89906-17G>C (n.89906-17G>C)
n.446+22883C>G
n.2043+4158C>G
c.93926-17G>C (n.93926-17G>C)
c.67820-17G>C (n.67820-17G>C)
c.67679-17G>C (n.67679-17G>C)
c.93722-17G>C (n.93722-17G>C)
c.89120-17G>C (n.89120-17G>C)
c.89117-17G>C (n.89117-17G>C)
c.86159-17G>C (n.86159-17G>C)
c.67775-17G>C (n.67775-17G>C)
c.89270-17G>C (n.89270-17G>C)
c.89267-17G>C (n.89267-17G>C)
c.88700-17G>C (n.88700-17G>C)
c.86042-17G>C (n.86042-17G>C)
c.85961-17G>C (n.85961-17G>C)
c.67724-17G>C (n.67724-17G>C)
c.57578-17G>C (n.57578-17G>C)
 ClinVar dbSNP
2g.178546521_178546522delCA2577170338TTN,TTN-AS1c.87125-19_87125-18del (n.87125-19_87125-18del)
c.68210-19_68210-18del (n.68210-19_68210-18del)
c.68009-19_68009-18del (n.68009-19_68009-18del)
c.67634-19_67634-18del (n.67634-19_67634-18del)
c.94829-19_94829-18del (n.94829-19_94829-18del)
c.89906-19_89906-18del (n.89906-19_89906-18del)
n.446+22885_446+22886del
n.2043+4160_2043+4161del
c.93926-19_93926-18del (n.93926-19_93926-18del)
c.67820-19_67820-18del (n.67820-19_67820-18del)
c.67679-19_67679-18del (n.67679-19_67679-18del)
c.93722-19_93722-18del (n.93722-19_93722-18del)
c.89120-19_89120-18del (n.89120-19_89120-18del)
c.89117-19_89117-18del (n.89117-19_89117-18del)
c.86159-19_86159-18del (n.86159-19_86159-18del)
c.67775-19_67775-18del (n.67775-19_67775-18del)
c.89270-19_89270-18del (n.89270-19_89270-18del)
c.89267-19_89267-18del (n.89267-19_89267-18del)
c.88700-19_88700-18del (n.88700-19_88700-18del)
c.86042-19_86042-18del (n.86042-19_86042-18del)
c.85961-19_85961-18del (n.85961-19_85961-18del)
c.67724-19_67724-18del (n.67724-19_67724-18del)
c.57578-19_57578-18del (n.57578-19_57578-18del)
 gnomAD v4
2g.178546521G>ACA1987061TTN,TTN-AS1c.87125-19C>T (n.87125-19C>T)
c.68210-19C>T (n.68210-19C>T)
c.68009-19C>T (n.68009-19C>T)
c.67634-19C>T (n.67634-19C>T)
c.94829-19C>T (n.94829-19C>T)
c.89906-19C>T (n.89906-19C>T)
n.446+22885G>A
n.2043+4160G>A
c.93926-19C>T (n.93926-19C>T)
c.67820-19C>T (n.67820-19C>T)
c.67679-19C>T (n.67679-19C>T)
c.93722-19C>T (n.93722-19C>T)
c.89120-19C>T (n.89120-19C>T)
c.89117-19C>T (n.89117-19C>T)
c.86159-19C>T (n.86159-19C>T)
c.67775-19C>T (n.67775-19C>T)
c.89270-19C>T (n.89270-19C>T)
c.89267-19C>T (n.89267-19C>T)
c.88700-19C>T (n.88700-19C>T)
c.86042-19C>T (n.86042-19C>T)
c.85961-19C>T (n.85961-19C>T)
c.67724-19C>T (n.67724-19C>T)
c.57578-19C>T (n.57578-19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546521G=CA1310523142TTN,TTN-AS1c.87125-19C= (n.87125-19C=)
c.68210-19C= (n.68210-19C=)
c.68009-19C= (n.68009-19C=)
c.67634-19C= (n.67634-19C=)
c.94829-19C= (n.94829-19C=)
c.89906-19C= (n.89906-19C=)
n.446+22885G=
n.2043+4160G=
c.93926-19C= (n.93926-19C=)
c.67820-19C= (n.67820-19C=)
c.67679-19C= (n.67679-19C=)
c.93722-19C= (n.93722-19C=)
c.89120-19C= (n.89120-19C=)
c.89117-19C= (n.89117-19C=)
c.86159-19C= (n.86159-19C=)
c.67775-19C= (n.67775-19C=)
c.89270-19C= (n.89270-19C=)
c.89267-19C= (n.89267-19C=)
c.88700-19C= (n.88700-19C=)
c.86042-19C= (n.86042-19C=)
c.85961-19C= (n.85961-19C=)
c.67724-19C= (n.67724-19C=)
c.57578-19C= (n.57578-19C=)
2g.178546522A=CA1310523143TTN,TTN-AS1c.87125-20T= (n.87125-20T=)
c.68210-20T= (n.68210-20T=)
c.68009-20T= (n.68009-20T=)
c.67634-20T= (n.67634-20T=)
c.94829-20T= (n.94829-20T=)
c.89906-20T= (n.89906-20T=)
n.446+22886A=
n.2043+4161A=
c.93926-20T= (n.93926-20T=)
c.67820-20T= (n.67820-20T=)
c.67679-20T= (n.67679-20T=)
c.93722-20T= (n.93722-20T=)
c.89120-20T= (n.89120-20T=)
c.89117-20T= (n.89117-20T=)
c.86159-20T= (n.86159-20T=)
c.67775-20T= (n.67775-20T=)
c.89270-20T= (n.89270-20T=)
c.89267-20T= (n.89267-20T=)
c.88700-20T= (n.88700-20T=)
c.86042-20T= (n.86042-20T=)
c.85961-20T= (n.85961-20T=)
c.67724-20T= (n.67724-20T=)
c.57578-20T= (n.57578-20T=)
2g.178546522A>GCA761283430TTN,TTN-AS1c.87125-20T>C (n.87125-20T>C)
c.68210-20T>C (n.68210-20T>C)
c.68009-20T>C (n.68009-20T>C)
c.67634-20T>C (n.67634-20T>C)
c.94829-20T>C (n.94829-20T>C)
c.89906-20T>C (n.89906-20T>C)
n.446+22886A>G
n.2043+4161A>G
c.93926-20T>C (n.93926-20T>C)
c.67820-20T>C (n.67820-20T>C)
c.67679-20T>C (n.67679-20T>C)
c.93722-20T>C (n.93722-20T>C)
c.89120-20T>C (n.89120-20T>C)
c.89117-20T>C (n.89117-20T>C)
c.86159-20T>C (n.86159-20T>C)
c.67775-20T>C (n.67775-20T>C)
c.89270-20T>C (n.89270-20T>C)
c.89267-20T>C (n.89267-20T>C)
c.88700-20T>C (n.88700-20T>C)
c.86042-20T>C (n.86042-20T>C)
c.85961-20T>C (n.85961-20T>C)
c.67724-20T>C (n.67724-20T>C)
c.57578-20T>C (n.57578-20T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546524_178546525delCA2662126034TTN,TTN-AS1c.87125-21_87125-20del (n.87125-21_87125-20del)
c.68210-21_68210-20del (n.68210-21_68210-20del)
c.68009-21_68009-20del (n.68009-21_68009-20del)
c.67634-21_67634-20del (n.67634-21_67634-20del)
c.94829-21_94829-20del (n.94829-21_94829-20del)
c.89906-21_89906-20del (n.89906-21_89906-20del)
n.446+22888_446+22889del
n.2043+4163_2043+4164del
c.93926-21_93926-20del (n.93926-21_93926-20del)
c.67820-21_67820-20del (n.67820-21_67820-20del)
c.67679-21_67679-20del (n.67679-21_67679-20del)
c.93722-21_93722-20del (n.93722-21_93722-20del)
c.89120-21_89120-20del (n.89120-21_89120-20del)
c.89117-21_89117-20del (n.89117-21_89117-20del)
c.86159-21_86159-20del (n.86159-21_86159-20del)
c.67775-21_67775-20del (n.67775-21_67775-20del)
c.89270-21_89270-20del (n.89270-21_89270-20del)
c.89267-21_89267-20del (n.89267-21_89267-20del)
c.88700-21_88700-20del (n.88700-21_88700-20del)
c.86042-21_86042-20del (n.86042-21_86042-20del)
c.85961-21_85961-20del (n.85961-21_85961-20del)
c.67724-21_67724-20del (n.67724-21_67724-20del)
c.57578-21_57578-20del (n.57578-21_57578-20del)
 gnomAD v4
2g.178546523T>CCA2662126038TTN,TTN-AS1c.87125-21A>G (n.87125-21A>G)
c.68210-21A>G (n.68210-21A>G)
c.68009-21A>G (n.68009-21A>G)
c.67634-21A>G (n.67634-21A>G)
c.94829-21A>G (n.94829-21A>G)
c.89906-21A>G (n.89906-21A>G)
n.446+22887T>C
n.2043+4162T>C
c.93926-21A>G (n.93926-21A>G)
c.67820-21A>G (n.67820-21A>G)
c.67679-21A>G (n.67679-21A>G)
c.93722-21A>G (n.93722-21A>G)
c.89120-21A>G (n.89120-21A>G)
c.89117-21A>G (n.89117-21A>G)
c.86159-21A>G (n.86159-21A>G)
c.67775-21A>G (n.67775-21A>G)
c.89270-21A>G (n.89270-21A>G)
c.89267-21A>G (n.89267-21A>G)
c.88700-21A>G (n.88700-21A>G)
c.86042-21A>G (n.86042-21A>G)
c.85961-21A>G (n.85961-21A>G)
c.67724-21A>G (n.67724-21A>G)
c.57578-21A>G (n.57578-21A>G)
 gnomAD v4
2g.178546524A=CA1310523145TTN,TTN-AS1c.87125-22T= (n.87125-22T=)
c.68210-22T= (n.68210-22T=)
c.68009-22T= (n.68009-22T=)
c.67634-22T= (n.67634-22T=)
c.94829-22T= (n.94829-22T=)
c.89906-22T= (n.89906-22T=)
n.446+22888A=
n.2043+4163A=
c.93926-22T= (n.93926-22T=)
c.67820-22T= (n.67820-22T=)
c.67679-22T= (n.67679-22T=)
c.93722-22T= (n.93722-22T=)
c.89120-22T= (n.89120-22T=)
c.89117-22T= (n.89117-22T=)
c.86159-22T= (n.86159-22T=)
c.67775-22T= (n.67775-22T=)
c.89270-22T= (n.89270-22T=)
c.89267-22T= (n.89267-22T=)
c.88700-22T= (n.88700-22T=)
c.86042-22T= (n.86042-22T=)
c.85961-22T= (n.85961-22T=)
c.67724-22T= (n.67724-22T=)
c.57578-22T= (n.57578-22T=)
2g.178546524A>GCA1310523147TTN,TTN-AS1c.87125-22T>C (n.87125-22T>C)
c.68210-22T>C (n.68210-22T>C)
c.68009-22T>C (n.68009-22T>C)
c.67634-22T>C (n.67634-22T>C)
c.94829-22T>C (n.94829-22T>C)
c.89906-22T>C (n.89906-22T>C)
n.446+22888A>G
n.2043+4163A>G
c.93926-22T>C (n.93926-22T>C)
c.67820-22T>C (n.67820-22T>C)
c.67679-22T>C (n.67679-22T>C)
c.93722-22T>C (n.93722-22T>C)
c.89120-22T>C (n.89120-22T>C)
c.89117-22T>C (n.89117-22T>C)
c.86159-22T>C (n.86159-22T>C)
c.67775-22T>C (n.67775-22T>C)
c.89270-22T>C (n.89270-22T>C)
c.89267-22T>C (n.89267-22T>C)
c.88700-22T>C (n.88700-22T>C)
c.86042-22T>C (n.86042-22T>C)
c.85961-22T>C (n.85961-22T>C)
c.67724-22T>C (n.67724-22T>C)
c.57578-22T>C (n.57578-22T>C)
 dbSNP
2g.178546524A>TCA1987062TTN,TTN-AS1c.87125-22T>A (n.87125-22T>A)
c.68210-22T>A (n.68210-22T>A)
c.68009-22T>A (n.68009-22T>A)
c.67634-22T>A (n.67634-22T>A)
c.94829-22T>A (n.94829-22T>A)
c.89906-22T>A (n.89906-22T>A)
n.446+22888A>T
n.2043+4163A>T
c.93926-22T>A (n.93926-22T>A)
c.67820-22T>A (n.67820-22T>A)
c.67679-22T>A (n.67679-22T>A)
c.93722-22T>A (n.93722-22T>A)
c.89120-22T>A (n.89120-22T>A)
c.89117-22T>A (n.89117-22T>A)
c.86159-22T>A (n.86159-22T>A)
c.67775-22T>A (n.67775-22T>A)
c.89270-22T>A (n.89270-22T>A)
c.89267-22T>A (n.89267-22T>A)
c.88700-22T>A (n.88700-22T>A)
c.86042-22T>A (n.86042-22T>A)
c.85961-22T>A (n.85961-22T>A)
c.67724-22T>A (n.67724-22T>A)
c.57578-22T>A (n.57578-22T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546525T>ACA761283434TTN,TTN-AS1c.87125-23A>T (n.87125-23A>T)
c.68210-23A>T (n.68210-23A>T)
c.68009-23A>T (n.68009-23A>T)
c.67634-23A>T (n.67634-23A>T)
c.94829-23A>T (n.94829-23A>T)
c.89906-23A>T (n.89906-23A>T)
n.446+22889T>A
n.2043+4164T>A
c.93926-23A>T (n.93926-23A>T)
c.67820-23A>T (n.67820-23A>T)
c.67679-23A>T (n.67679-23A>T)
c.93722-23A>T (n.93722-23A>T)
c.89120-23A>T (n.89120-23A>T)
c.89117-23A>T (n.89117-23A>T)
c.86159-23A>T (n.86159-23A>T)
c.67775-23A>T (n.67775-23A>T)
c.89270-23A>T (n.89270-23A>T)
c.89267-23A>T (n.89267-23A>T)
c.88700-23A>T (n.88700-23A>T)
c.86042-23A>T (n.86042-23A>T)
c.85961-23A>T (n.85961-23A>T)
c.67724-23A>T (n.67724-23A>T)
c.57578-23A>T (n.57578-23A>T)
 dbSNP gnomAD v4
2g.178546525T>CCA1987063TTN,TTN-AS1c.87125-23A>G (n.87125-23A>G)
c.68210-23A>G (n.68210-23A>G)
c.68009-23A>G (n.68009-23A>G)
c.67634-23A>G (n.67634-23A>G)
c.94829-23A>G (n.94829-23A>G)
c.89906-23A>G (n.89906-23A>G)
n.446+22889T>C
n.2043+4164T>C
c.93926-23A>G (n.93926-23A>G)
c.67820-23A>G (n.67820-23A>G)
c.67679-23A>G (n.67679-23A>G)
c.93722-23A>G (n.93722-23A>G)
c.89120-23A>G (n.89120-23A>G)
c.89117-23A>G (n.89117-23A>G)
c.86159-23A>G (n.86159-23A>G)
c.67775-23A>G (n.67775-23A>G)
c.89270-23A>G (n.89270-23A>G)
c.89267-23A>G (n.89267-23A>G)
c.88700-23A>G (n.88700-23A>G)
c.86042-23A>G (n.86042-23A>G)
c.85961-23A>G (n.85961-23A>G)
c.67724-23A>G (n.67724-23A>G)
c.57578-23A>G (n.57578-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546525T>GCA2662126043TTN,TTN-AS1c.87125-23A>C (n.87125-23A>C)
c.68210-23A>C (n.68210-23A>C)
c.68009-23A>C (n.68009-23A>C)
c.67634-23A>C (n.67634-23A>C)
c.94829-23A>C (n.94829-23A>C)
c.89906-23A>C (n.89906-23A>C)
n.446+22889T>G
n.2043+4164T>G
c.93926-23A>C (n.93926-23A>C)
c.67820-23A>C (n.67820-23A>C)
c.67679-23A>C (n.67679-23A>C)
c.93722-23A>C (n.93722-23A>C)
c.89120-23A>C (n.89120-23A>C)
c.89117-23A>C (n.89117-23A>C)
c.86159-23A>C (n.86159-23A>C)
c.67775-23A>C (n.67775-23A>C)
c.89270-23A>C (n.89270-23A>C)
c.89267-23A>C (n.89267-23A>C)
c.88700-23A>C (n.88700-23A>C)
c.86042-23A>C (n.86042-23A>C)
c.85961-23A>C (n.85961-23A>C)
c.67724-23A>C (n.67724-23A>C)
c.57578-23A>C (n.57578-23A>C)
 gnomAD v4
2g.178546525T=CA1310523149TTN,TTN-AS1c.87125-23A= (n.87125-23A=)
c.68210-23A= (n.68210-23A=)
c.68009-23A= (n.68009-23A=)
c.67634-23A= (n.67634-23A=)
c.94829-23A= (n.94829-23A=)
c.89906-23A= (n.89906-23A=)
n.446+22889T=
n.2043+4164T=
c.93926-23A= (n.93926-23A=)
c.67820-23A= (n.67820-23A=)
c.67679-23A= (n.67679-23A=)
c.93722-23A= (n.93722-23A=)
c.89120-23A= (n.89120-23A=)
c.89117-23A= (n.89117-23A=)
c.86159-23A= (n.86159-23A=)
c.67775-23A= (n.67775-23A=)
c.89270-23A= (n.89270-23A=)
c.89267-23A= (n.89267-23A=)
c.88700-23A= (n.88700-23A=)
c.86042-23A= (n.86042-23A=)
c.85961-23A= (n.85961-23A=)
c.67724-23A= (n.67724-23A=)
c.57578-23A= (n.57578-23A=)
2g.178546526G>ACA1310523152TTN,TTN-AS1c.87125-24C>T (n.87125-24C>T)
c.68210-24C>T (n.68210-24C>T)
c.68009-24C>T (n.68009-24C>T)
c.67634-24C>T (n.67634-24C>T)
c.94829-24C>T (n.94829-24C>T)
c.89906-24C>T (n.89906-24C>T)
n.446+22890G>A
n.2043+4165G>A
c.93926-24C>T (n.93926-24C>T)
c.67820-24C>T (n.67820-24C>T)
c.67679-24C>T (n.67679-24C>T)
c.93722-24C>T (n.93722-24C>T)
c.89120-24C>T (n.89120-24C>T)
c.89117-24C>T (n.89117-24C>T)
c.86159-24C>T (n.86159-24C>T)
c.67775-24C>T (n.67775-24C>T)
c.89270-24C>T (n.89270-24C>T)
c.89267-24C>T (n.89267-24C>T)
c.88700-24C>T (n.88700-24C>T)
c.86042-24C>T (n.86042-24C>T)
c.85961-24C>T (n.85961-24C>T)
c.67724-24C>T (n.67724-24C>T)
c.57578-24C>T (n.57578-24C>T)
 dbSNP gnomAD v4
2g.178546526G=CA1310523151TTN,TTN-AS1c.87125-24C= (n.87125-24C=)
c.68210-24C= (n.68210-24C=)
c.68009-24C= (n.68009-24C=)
c.67634-24C= (n.67634-24C=)
c.94829-24C= (n.94829-24C=)
c.89906-24C= (n.89906-24C=)
n.446+22890G=
n.2043+4165G=
c.93926-24C= (n.93926-24C=)
c.67820-24C= (n.67820-24C=)
c.67679-24C= (n.67679-24C=)
c.93722-24C= (n.93722-24C=)
c.89120-24C= (n.89120-24C=)
c.89117-24C= (n.89117-24C=)
c.86159-24C= (n.86159-24C=)
c.67775-24C= (n.67775-24C=)
c.89270-24C= (n.89270-24C=)
c.89267-24C= (n.89267-24C=)
c.88700-24C= (n.88700-24C=)
c.86042-24C= (n.86042-24C=)
c.85961-24C= (n.85961-24C=)
c.67724-24C= (n.67724-24C=)
c.57578-24C= (n.57578-24C=)
2g.178546526G>TCA2502528607TTN,TTN-AS1c.87125-24C>A (n.87125-24C>A)
c.68210-24C>A (n.68210-24C>A)
c.68009-24C>A (n.68009-24C>A)
c.67634-24C>A (n.67634-24C>A)
c.94829-24C>A (n.94829-24C>A)
c.89906-24C>A (n.89906-24C>A)
n.446+22890G>T
n.2043+4165G>T
c.93926-24C>A (n.93926-24C>A)
c.67820-24C>A (n.67820-24C>A)
c.67679-24C>A (n.67679-24C>A)
c.93722-24C>A (n.93722-24C>A)
c.89120-24C>A (n.89120-24C>A)
c.89117-24C>A (n.89117-24C>A)
c.86159-24C>A (n.86159-24C>A)
c.67775-24C>A (n.67775-24C>A)
c.89270-24C>A (n.89270-24C>A)
c.89267-24C>A (n.89267-24C>A)
c.88700-24C>A (n.88700-24C>A)
c.86042-24C>A (n.86042-24C>A)
c.85961-24C>A (n.85961-24C>A)
c.67724-24C>A (n.67724-24C>A)
c.57578-24C>A (n.57578-24C>A)
 gnomAD v4
2g.178546528A=CA1310523154TTN,TTN-AS1c.87125-26T= (n.87125-26T=)
c.68210-26T= (n.68210-26T=)
c.68009-26T= (n.68009-26T=)
c.67634-26T= (n.67634-26T=)
c.94829-26T= (n.94829-26T=)
c.89906-26T= (n.89906-26T=)
n.446+22892A=
n.2043+4167A=
c.93926-26T= (n.93926-26T=)
c.67820-26T= (n.67820-26T=)
c.67679-26T= (n.67679-26T=)
c.93722-26T= (n.93722-26T=)
c.89120-26T= (n.89120-26T=)
c.89117-26T= (n.89117-26T=)
c.86159-26T= (n.86159-26T=)
c.67775-26T= (n.67775-26T=)
c.89270-26T= (n.89270-26T=)
c.89267-26T= (n.89267-26T=)
c.88700-26T= (n.88700-26T=)
c.86042-26T= (n.86042-26T=)
c.85961-26T= (n.85961-26T=)
c.67724-26T= (n.67724-26T=)
c.57578-26T= (n.57578-26T=)
2g.178546528A>GCA538435117TTN,TTN-AS1c.87125-26T>C (n.87125-26T>C)
c.68210-26T>C (n.68210-26T>C)
c.68009-26T>C (n.68009-26T>C)
c.67634-26T>C (n.67634-26T>C)
c.94829-26T>C (n.94829-26T>C)
c.89906-26T>C (n.89906-26T>C)
n.446+22892A>G
n.2043+4167A>G
c.93926-26T>C (n.93926-26T>C)
c.67820-26T>C (n.67820-26T>C)
c.67679-26T>C (n.67679-26T>C)
c.93722-26T>C (n.93722-26T>C)
c.89120-26T>C (n.89120-26T>C)
c.89117-26T>C (n.89117-26T>C)
c.86159-26T>C (n.86159-26T>C)
c.67775-26T>C (n.67775-26T>C)
c.89270-26T>C (n.89270-26T>C)
c.89267-26T>C (n.89267-26T>C)
c.88700-26T>C (n.88700-26T>C)
c.86042-26T>C (n.86042-26T>C)
c.85961-26T>C (n.85961-26T>C)
c.67724-26T>C (n.67724-26T>C)
c.57578-26T>C (n.57578-26T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546530G>ACA1987064TTN,TTN-AS1c.87125-28C>T (n.87125-28C>T)
c.68210-28C>T (n.68210-28C>T)
c.68009-28C>T (n.68009-28C>T)
c.67634-28C>T (n.67634-28C>T)
c.94829-28C>T (n.94829-28C>T)
c.89906-28C>T (n.89906-28C>T)
n.446+22894G>A
n.2043+4169G>A
c.93926-28C>T (n.93926-28C>T)
c.67820-28C>T (n.67820-28C>T)
c.67679-28C>T (n.67679-28C>T)
c.93722-28C>T (n.93722-28C>T)
c.89120-28C>T (n.89120-28C>T)
c.89117-28C>T (n.89117-28C>T)
c.86159-28C>T (n.86159-28C>T)
c.67775-28C>T (n.67775-28C>T)
c.89270-28C>T (n.89270-28C>T)
c.89267-28C>T (n.89267-28C>T)
c.88700-28C>T (n.88700-28C>T)
c.86042-28C>T (n.86042-28C>T)
c.85961-28C>T (n.85961-28C>T)
c.67724-28C>T (n.67724-28C>T)
c.57578-28C>T (n.57578-28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546530G=CA1310523156TTN,TTN-AS1c.87125-28C= (n.87125-28C=)
c.68210-28C= (n.68210-28C=)
c.68009-28C= (n.68009-28C=)
c.67634-28C= (n.67634-28C=)
c.94829-28C= (n.94829-28C=)
c.89906-28C= (n.89906-28C=)
n.446+22894G=
n.2043+4169G=
c.93926-28C= (n.93926-28C=)
c.67820-28C= (n.67820-28C=)
c.67679-28C= (n.67679-28C=)
c.93722-28C= (n.93722-28C=)
c.89120-28C= (n.89120-28C=)
c.89117-28C= (n.89117-28C=)
c.86159-28C= (n.86159-28C=)
c.67775-28C= (n.67775-28C=)
c.89270-28C= (n.89270-28C=)
c.89267-28C= (n.89267-28C=)
c.88700-28C= (n.88700-28C=)
c.86042-28C= (n.86042-28C=)
c.85961-28C= (n.85961-28C=)
c.67724-28C= (n.67724-28C=)
c.57578-28C= (n.57578-28C=)
2g.178546531A>GCA2662126057TTN,TTN-AS1c.87125-29T>C (n.87125-29T>C)
c.68210-29T>C (n.68210-29T>C)
c.68009-29T>C (n.68009-29T>C)
c.67634-29T>C (n.67634-29T>C)
c.94829-29T>C (n.94829-29T>C)
c.89906-29T>C (n.89906-29T>C)
n.446+22895A>G
n.2043+4170A>G
c.93926-29T>C (n.93926-29T>C)
c.67820-29T>C (n.67820-29T>C)
c.67679-29T>C (n.67679-29T>C)
c.93722-29T>C (n.93722-29T>C)
c.89120-29T>C (n.89120-29T>C)
c.89117-29T>C (n.89117-29T>C)
c.86159-29T>C (n.86159-29T>C)
c.67775-29T>C (n.67775-29T>C)
c.89270-29T>C (n.89270-29T>C)
c.89267-29T>C (n.89267-29T>C)
c.88700-29T>C (n.88700-29T>C)
c.86042-29T>C (n.86042-29T>C)
c.85961-29T>C (n.85961-29T>C)
c.67724-29T>C (n.67724-29T>C)
c.57578-29T>C (n.57578-29T>C)
 gnomAD v4
2g.178546532A=CA1310523158TTN,TTN-AS1c.87125-30T= (n.87125-30T=)
c.68210-30T= (n.68210-30T=)
c.68009-30T= (n.68009-30T=)
c.67634-30T= (n.67634-30T=)
c.94829-30T= (n.94829-30T=)
c.89906-30T= (n.89906-30T=)
n.446+22896A=
n.2043+4171A=
c.93926-30T= (n.93926-30T=)
c.67820-30T= (n.67820-30T=)
c.67679-30T= (n.67679-30T=)
c.93722-30T= (n.93722-30T=)
c.89120-30T= (n.89120-30T=)
c.89117-30T= (n.89117-30T=)
c.86159-30T= (n.86159-30T=)
c.67775-30T= (n.67775-30T=)
c.89270-30T= (n.89270-30T=)
c.89267-30T= (n.89267-30T=)
c.88700-30T= (n.88700-30T=)
c.86042-30T= (n.86042-30T=)
c.85961-30T= (n.85961-30T=)
c.67724-30T= (n.67724-30T=)
c.57578-30T= (n.57578-30T=)
2g.178546532A>GCA1987065TTN,TTN-AS1c.87125-30T>C (n.87125-30T>C)
c.68210-30T>C (n.68210-30T>C)
c.68009-30T>C (n.68009-30T>C)
c.67634-30T>C (n.67634-30T>C)
c.94829-30T>C (n.94829-30T>C)
c.89906-30T>C (n.89906-30T>C)
n.446+22896A>G
n.2043+4171A>G
c.93926-30T>C (n.93926-30T>C)
c.67820-30T>C (n.67820-30T>C)
c.67679-30T>C (n.67679-30T>C)
c.93722-30T>C (n.93722-30T>C)
c.89120-30T>C (n.89120-30T>C)
c.89117-30T>C (n.89117-30T>C)
c.86159-30T>C (n.86159-30T>C)
c.67775-30T>C (n.67775-30T>C)
c.89270-30T>C (n.89270-30T>C)
c.89267-30T>C (n.89267-30T>C)
c.88700-30T>C (n.88700-30T>C)
c.86042-30T>C (n.86042-30T>C)
c.85961-30T>C (n.85961-30T>C)
c.67724-30T>C (n.67724-30T>C)
c.57578-30T>C (n.57578-30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546532A>TCA2662126061TTN,TTN-AS1c.87125-30T>A (n.87125-30T>A)
c.68210-30T>A (n.68210-30T>A)
c.68009-30T>A (n.68009-30T>A)
c.67634-30T>A (n.67634-30T>A)
c.94829-30T>A (n.94829-30T>A)
c.89906-30T>A (n.89906-30T>A)
n.446+22896A>T
n.2043+4171A>T
c.93926-30T>A (n.93926-30T>A)
c.67820-30T>A (n.67820-30T>A)
c.67679-30T>A (n.67679-30T>A)
c.93722-30T>A (n.93722-30T>A)
c.89120-30T>A (n.89120-30T>A)
c.89117-30T>A (n.89117-30T>A)
c.86159-30T>A (n.86159-30T>A)
c.67775-30T>A (n.67775-30T>A)
c.89270-30T>A (n.89270-30T>A)
c.89267-30T>A (n.89267-30T>A)
c.88700-30T>A (n.88700-30T>A)
c.86042-30T>A (n.86042-30T>A)
c.85961-30T>A (n.85961-30T>A)
c.67724-30T>A (n.67724-30T>A)
c.57578-30T>A (n.57578-30T>A)
 gnomAD v4
2g.178546534A=CA1310523163TTN,TTN-AS1c.87125-32T= (n.87125-32T=)
c.68210-32T= (n.68210-32T=)
c.68009-32T= (n.68009-32T=)
c.67634-32T= (n.67634-32T=)
c.94829-32T= (n.94829-32T=)
c.89906-32T= (n.89906-32T=)
n.446+22898A=
n.2043+4173A=
c.93926-32T= (n.93926-32T=)
c.67820-32T= (n.67820-32T=)
c.67679-32T= (n.67679-32T=)
c.93722-32T= (n.93722-32T=)
c.89120-32T= (n.89120-32T=)
c.89117-32T= (n.89117-32T=)
c.86159-32T= (n.86159-32T=)
c.67775-32T= (n.67775-32T=)
c.89270-32T= (n.89270-32T=)
c.89267-32T= (n.89267-32T=)
c.88700-32T= (n.88700-32T=)
c.86042-32T= (n.86042-32T=)
c.85961-32T= (n.85961-32T=)
c.67724-32T= (n.67724-32T=)
c.57578-32T= (n.57578-32T=)
2g.178546534A>GCA1987066TTN,TTN-AS1c.87125-32T>C (n.87125-32T>C)
c.68210-32T>C (n.68210-32T>C)
c.68009-32T>C (n.68009-32T>C)
c.67634-32T>C (n.67634-32T>C)
c.94829-32T>C (n.94829-32T>C)
c.89906-32T>C (n.89906-32T>C)
n.446+22898A>G
n.2043+4173A>G
c.93926-32T>C (n.93926-32T>C)
c.67820-32T>C (n.67820-32T>C)
c.67679-32T>C (n.67679-32T>C)
c.93722-32T>C (n.93722-32T>C)
c.89120-32T>C (n.89120-32T>C)
c.89117-32T>C (n.89117-32T>C)
c.86159-32T>C (n.86159-32T>C)
c.67775-32T>C (n.67775-32T>C)
c.89270-32T>C (n.89270-32T>C)
c.89267-32T>C (n.89267-32T>C)
c.88700-32T>C (n.88700-32T>C)
c.86042-32T>C (n.86042-32T>C)
c.85961-32T>C (n.85961-32T>C)
c.67724-32T>C (n.67724-32T>C)
c.57578-32T>C (n.57578-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546535T>CCA1987067TTN,TTN-AS1c.87125-33A>G (n.87125-33A>G)
c.68210-33A>G (n.68210-33A>G)
c.68009-33A>G (n.68009-33A>G)
c.67634-33A>G (n.67634-33A>G)
c.94829-33A>G (n.94829-33A>G)
c.89906-33A>G (n.89906-33A>G)
n.446+22899T>C
n.2043+4174T>C
c.93926-33A>G (n.93926-33A>G)
c.67820-33A>G (n.67820-33A>G)
c.67679-33A>G (n.67679-33A>G)
c.93722-33A>G (n.93722-33A>G)
c.89120-33A>G (n.89120-33A>G)
c.89117-33A>G (n.89117-33A>G)
c.86159-33A>G (n.86159-33A>G)
c.67775-33A>G (n.67775-33A>G)
c.89270-33A>G (n.89270-33A>G)
c.89267-33A>G (n.89267-33A>G)
c.88700-33A>G (n.88700-33A>G)
c.86042-33A>G (n.86042-33A>G)
c.85961-33A>G (n.85961-33A>G)
c.67724-33A>G (n.67724-33A>G)
c.57578-33A>G (n.57578-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546535T=CA1310523167TTN,TTN-AS1c.87125-33A= (n.87125-33A=)
c.68210-33A= (n.68210-33A=)
c.68009-33A= (n.68009-33A=)
c.67634-33A= (n.67634-33A=)
c.94829-33A= (n.94829-33A=)
c.89906-33A= (n.89906-33A=)
n.446+22899T=
n.2043+4174T=
c.93926-33A= (n.93926-33A=)
c.67820-33A= (n.67820-33A=)
c.67679-33A= (n.67679-33A=)
c.93722-33A= (n.93722-33A=)
c.89120-33A= (n.89120-33A=)
c.89117-33A= (n.89117-33A=)
c.86159-33A= (n.86159-33A=)
c.67775-33A= (n.67775-33A=)
c.89270-33A= (n.89270-33A=)
c.89267-33A= (n.89267-33A=)
c.88700-33A= (n.88700-33A=)
c.86042-33A= (n.86042-33A=)
c.85961-33A= (n.85961-33A=)
c.67724-33A= (n.67724-33A=)
c.57578-33A= (n.57578-33A=)
2g.178546536C>ACA60972432TTN,TTN-AS1c.87125-34G>T (n.87125-34G>T)
c.68210-34G>T (n.68210-34G>T)
c.68009-34G>T (n.68009-34G>T)
c.67634-34G>T (n.67634-34G>T)
c.94829-34G>T (n.94829-34G>T)
c.89906-34G>T (n.89906-34G>T)
n.446+22900C>A
n.2043+4175C>A
c.93926-34G>T (n.93926-34G>T)
c.67820-34G>T (n.67820-34G>T)
c.67679-34G>T (n.67679-34G>T)
c.93722-34G>T (n.93722-34G>T)
c.89120-34G>T (n.89120-34G>T)
c.89117-34G>T (n.89117-34G>T)
c.86159-34G>T (n.86159-34G>T)
c.67775-34G>T (n.67775-34G>T)
c.89270-34G>T (n.89270-34G>T)
c.89267-34G>T (n.89267-34G>T)
c.88700-34G>T (n.88700-34G>T)
c.86042-34G>T (n.86042-34G>T)
c.85961-34G>T (n.85961-34G>T)
c.67724-34G>T (n.67724-34G>T)
c.57578-34G>T (n.57578-34G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178546536C=CA1310523171TTN,TTN-AS1c.87125-34G= (n.87125-34G=)
c.68210-34G= (n.68210-34G=)
c.68009-34G= (n.68009-34G=)
c.67634-34G= (n.67634-34G=)
c.94829-34G= (n.94829-34G=)
c.89906-34G= (n.89906-34G=)
n.446+22900C=
n.2043+4175C=
c.93926-34G= (n.93926-34G=)
c.67820-34G= (n.67820-34G=)
c.67679-34G= (n.67679-34G=)
c.93722-34G= (n.93722-34G=)
c.89120-34G= (n.89120-34G=)
c.89117-34G= (n.89117-34G=)
c.86159-34G= (n.86159-34G=)
c.67775-34G= (n.67775-34G=)
c.89270-34G= (n.89270-34G=)
c.89267-34G= (n.89267-34G=)
c.88700-34G= (n.88700-34G=)
c.86042-34G= (n.86042-34G=)
c.85961-34G= (n.85961-34G=)
c.67724-34G= (n.67724-34G=)
c.57578-34G= (n.57578-34G=)
2g.178546536C>TCA60972436TTN,TTN-AS1c.87125-34G>A (n.87125-34G>A)
c.68210-34G>A (n.68210-34G>A)
c.68009-34G>A (n.68009-34G>A)
c.67634-34G>A (n.67634-34G>A)
c.94829-34G>A (n.94829-34G>A)
c.89906-34G>A (n.89906-34G>A)
n.446+22900C>T
n.2043+4175C>T
c.93926-34G>A (n.93926-34G>A)
c.67820-34G>A (n.67820-34G>A)
c.67679-34G>A (n.67679-34G>A)
c.93722-34G>A (n.93722-34G>A)
c.89120-34G>A (n.89120-34G>A)
c.89117-34G>A (n.89117-34G>A)
c.86159-34G>A (n.86159-34G>A)
c.67775-34G>A (n.67775-34G>A)
c.89270-34G>A (n.89270-34G>A)
c.89267-34G>A (n.89267-34G>A)
c.88700-34G>A (n.88700-34G>A)
c.86042-34G>A (n.86042-34G>A)
c.85961-34G>A (n.85961-34G>A)
c.67724-34G>A (n.67724-34G>A)
c.57578-34G>A (n.57578-34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546538G>CCA2662126075TTN,TTN-AS1c.87125-36C>G (n.87125-36C>G)
c.68210-36C>G (n.68210-36C>G)
c.68009-36C>G (n.68009-36C>G)
c.67634-36C>G (n.67634-36C>G)
c.94829-36C>G (n.94829-36C>G)
c.89906-36C>G (n.89906-36C>G)
n.446+22902G>C
n.2043+4177G>C
c.93926-36C>G (n.93926-36C>G)
c.67820-36C>G (n.67820-36C>G)
c.67679-36C>G (n.67679-36C>G)
c.93722-36C>G (n.93722-36C>G)
c.89120-36C>G (n.89120-36C>G)
c.89117-36C>G (n.89117-36C>G)
c.86159-36C>G (n.86159-36C>G)
c.67775-36C>G (n.67775-36C>G)
c.89270-36C>G (n.89270-36C>G)
c.89267-36C>G (n.89267-36C>G)
c.88700-36C>G (n.88700-36C>G)
c.86042-36C>G (n.86042-36C>G)
c.85961-36C>G (n.85961-36C>G)
c.67724-36C>G (n.67724-36C>G)
c.57578-36C>G (n.57578-36C>G)
 gnomAD v4
2g.178546539A>GCA2662126079TTN,TTN-AS1c.87125-37T>C (n.87125-37T>C)
c.68210-37T>C (n.68210-37T>C)
c.68009-37T>C (n.68009-37T>C)
c.67634-37T>C (n.67634-37T>C)
c.94829-37T>C (n.94829-37T>C)
c.89906-37T>C (n.89906-37T>C)
n.446+22903A>G
n.2043+4178A>G
c.93926-37T>C (n.93926-37T>C)
c.67820-37T>C (n.67820-37T>C)
c.67679-37T>C (n.67679-37T>C)
c.93722-37T>C (n.93722-37T>C)
c.89120-37T>C (n.89120-37T>C)
c.89117-37T>C (n.89117-37T>C)
c.86159-37T>C (n.86159-37T>C)
c.67775-37T>C (n.67775-37T>C)
c.89270-37T>C (n.89270-37T>C)
c.89267-37T>C (n.89267-37T>C)
c.88700-37T>C (n.88700-37T>C)
c.86042-37T>C (n.86042-37T>C)
c.85961-37T>C (n.85961-37T>C)
c.67724-37T>C (n.67724-37T>C)
c.57578-37T>C (n.57578-37T>C)
 gnomAD v4
2g.178546539dupCA2662126077TTN,TTN-AS1c.87125-37dup (n.87125-37dup)
c.68210-37dup (n.68210-37dup)
c.68009-37dup (n.68009-37dup)
c.67634-37dup (n.67634-37dup)
c.94829-37dup (n.94829-37dup)
c.89906-37dup (n.89906-37dup)
n.446+22903dup
n.2043+4178dup
c.93926-37dup (n.93926-37dup)
c.67820-37dup (n.67820-37dup)
c.67679-37dup (n.67679-37dup)
c.93722-37dup (n.93722-37dup)
c.89120-37dup (n.89120-37dup)
c.89117-37dup (n.89117-37dup)
c.86159-37dup (n.86159-37dup)
c.67775-37dup (n.67775-37dup)
c.89270-37dup (n.89270-37dup)
c.89267-37dup (n.89267-37dup)
c.88700-37dup (n.88700-37dup)
c.86042-37dup (n.86042-37dup)
c.85961-37dup (n.85961-37dup)
c.67724-37dup (n.67724-37dup)
c.57578-37dup (n.57578-37dup)
 gnomAD v4

Number of alleles fetched