Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527491G>ACA309520TTN,TTN-AS1c.99931C>T (p.Gln33311Ter)
c.81016C>T (p.Gln27006Ter)
c.80815C>T (p.Gln26939Ter)
c.80440C>T (p.Gln26814Ter)
c.107635C>T (p.Gln35879Ter)
c.102712C>T (p.Gln34238Ter)
n.446+3855G>A
n.219+3855G>A
c.106732C>T (p.Gln35578Ter)
c.80626C>T (p.Gln26876Ter)
c.80485C>T (p.Gln26829Ter)
c.106528C>T (p.Gln35510Ter)
c.101926C>T (p.Gln33976Ter)
c.101923C>T (p.Gln33975Ter)
c.98965C>T (p.Gln32989Ter)
c.80581C>T (p.Gln26861Ter)
c.102076C>T (p.Gln34026Ter)
c.102073C>T (p.Gln34025Ter)
c.101506C>T (p.Gln33836Ter)
c.98848C>T (p.Gln32950Ter)
c.98767C>T (p.Gln32923Ter)
c.80530C>T (p.Gln26844Ter)
c.70384C>T (p.Gln23462Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527491G>CCA349399864TTN,TTN-AS1c.99931C>G (p.Gln33311Glu)
c.81016C>G (p.Gln27006Glu)
c.80815C>G (p.Gln26939Glu)
c.80440C>G (p.Gln26814Glu)
c.107635C>G (p.Gln35879Glu)
c.102712C>G (p.Gln34238Glu)
n.446+3855G>C
n.219+3855G>C
c.106732C>G (p.Gln35578Glu)
c.80626C>G (p.Gln26876Glu)
c.80485C>G (p.Gln26829Glu)
c.106528C>G (p.Gln35510Glu)
c.101926C>G (p.Gln33976Glu)
c.101923C>G (p.Gln33975Glu)
c.98965C>G (p.Gln32989Glu)
c.80581C>G (p.Gln26861Glu)
c.102076C>G (p.Gln34026Glu)
c.102073C>G (p.Gln34025Glu)
c.101506C>G (p.Gln33836Glu)
c.98848C>G (p.Gln32950Glu)
c.98767C>G (p.Gln32923Glu)
c.80530C>G (p.Gln26844Glu)
c.70384C>G (p.Gln23462Glu)
2g.178527491G=CA1310514491TTN,TTN-AS1c.99931C= (p.Gln33311=)
c.81016C= (p.Gln27006=)
c.80815C= (p.Gln26939=)
c.80440C= (p.Gln26814=)
c.107635C= (p.Gln35879=)
c.102712C= (p.Gln34238=)
n.446+3855G=
n.219+3855G=
c.106732C= (p.Gln35578=)
c.80626C= (p.Gln26876=)
c.80485C= (p.Gln26829=)
c.106528C= (p.Gln35510=)
c.101926C= (p.Gln33976=)
c.101923C= (p.Gln33975=)
c.98965C= (p.Gln32989=)
c.80581C= (p.Gln26861=)
c.102076C= (p.Gln34026=)
c.102073C= (p.Gln34025=)
c.101506C= (p.Gln33836=)
c.98848C= (p.Gln32950=)
c.98767C= (p.Gln32923=)
c.80530C= (p.Gln26844=)
c.70384C= (p.Gln23462=)
2g.178527491G>TCA349399866TTN,TTN-AS1c.99931C>A (p.Gln33311Lys)
c.81016C>A (p.Gln27006Lys)
c.80815C>A (p.Gln26939Lys)
c.80440C>A (p.Gln26814Lys)
c.107635C>A (p.Gln35879Lys)
c.102712C>A (p.Gln34238Lys)
n.446+3855G>T
n.219+3855G>T
c.106732C>A (p.Gln35578Lys)
c.80626C>A (p.Gln26876Lys)
c.80485C>A (p.Gln26829Lys)
c.106528C>A (p.Gln35510Lys)
c.101926C>A (p.Gln33976Lys)
c.101923C>A (p.Gln33975Lys)
c.98965C>A (p.Gln32989Lys)
c.80581C>A (p.Gln26861Lys)
c.102076C>A (p.Gln34026Lys)
c.102073C>A (p.Gln34025Lys)
c.101506C>A (p.Gln33836Lys)
c.98848C>A (p.Gln32950Lys)
c.98767C>A (p.Gln32923Lys)
c.80530C>A (p.Gln26844Lys)
c.70384C>A (p.Gln23462Lys)
2g.178527492T>ACA430234188TTN,TTN-AS1c.99930A>T (p.Thr33310=)
c.81015A>T (p.Thr27005=)
c.80814A>T (p.Thr26938=)
c.80439A>T (p.Thr26813=)
c.107634A>T (p.Thr35878=)
c.102711A>T (p.Thr34237=)
n.446+3856T>A
n.219+3856T>A
c.106731A>T (p.Thr35577=)
c.80625A>T (p.Thr26875=)
c.80484A>T (p.Thr26828=)
c.106527A>T (p.Thr35509=)
c.101925A>T (p.Thr33975=)
c.101922A>T (p.Thr33974=)
c.98964A>T (p.Thr32988=)
c.80580A>T (p.Thr26860=)
c.102075A>T (p.Thr34025=)
c.102072A>T (p.Thr34024=)
c.101505A>T (p.Thr33835=)
c.98847A>T (p.Thr32949=)
c.98766A>T (p.Thr32922=)
c.80529A>T (p.Thr26843=)
c.70383A>T (p.Thr23461=)
2g.178527492T>CCA10581823TTN,TTN-AS1c.99930A>G (p.Thr33310=)
c.81015A>G (p.Thr27005=)
c.80814A>G (p.Thr26938=)
c.80439A>G (p.Thr26813=)
c.107634A>G (p.Thr35878=)
c.102711A>G (p.Thr34237=)
n.446+3856T>C
n.219+3856T>C
c.106731A>G (p.Thr35577=)
c.80625A>G (p.Thr26875=)
c.80484A>G (p.Thr26828=)
c.106527A>G (p.Thr35509=)
c.101925A>G (p.Thr33975=)
c.101922A>G (p.Thr33974=)
c.98964A>G (p.Thr32988=)
c.80580A>G (p.Thr26860=)
c.102075A>G (p.Thr34025=)
c.102072A>G (p.Thr34024=)
c.101505A>G (p.Thr33835=)
c.98847A>G (p.Thr32949=)
c.98766A>G (p.Thr32922=)
c.80529A>G (p.Thr26843=)
c.70383A>G (p.Thr23461=)
 ClinVar dbSNP
2g.178527492T>GCA430234192TTN,TTN-AS1c.99930A>C (p.Thr33310=)
c.81015A>C (p.Thr27005=)
c.80814A>C (p.Thr26938=)
c.80439A>C (p.Thr26813=)
c.107634A>C (p.Thr35878=)
c.102711A>C (p.Thr34237=)
n.446+3856T>G
n.219+3856T>G
c.106731A>C (p.Thr35577=)
c.80625A>C (p.Thr26875=)
c.80484A>C (p.Thr26828=)
c.106527A>C (p.Thr35509=)
c.101925A>C (p.Thr33975=)
c.101922A>C (p.Thr33974=)
c.98964A>C (p.Thr32988=)
c.80580A>C (p.Thr26860=)
c.102075A>C (p.Thr34025=)
c.102072A>C (p.Thr34024=)
c.101505A>C (p.Thr33835=)
c.98847A>C (p.Thr32949=)
c.98766A>C (p.Thr32922=)
c.80529A>C (p.Thr26843=)
c.70383A>C (p.Thr23461=)
2g.178527492T=CA1310514492TTN,TTN-AS1c.99930A= (p.Thr33310=)
c.81015A= (p.Thr27005=)
c.80814A= (p.Thr26938=)
c.80439A= (p.Thr26813=)
c.107634A= (p.Thr35878=)
c.102711A= (p.Thr34237=)
n.446+3856T=
n.219+3856T=
c.106731A= (p.Thr35577=)
c.80625A= (p.Thr26875=)
c.80484A= (p.Thr26828=)
c.106527A= (p.Thr35509=)
c.101925A= (p.Thr33975=)
c.101922A= (p.Thr33974=)
c.98964A= (p.Thr32988=)
c.80580A= (p.Thr26860=)
c.102075A= (p.Thr34025=)
c.102072A= (p.Thr34024=)
c.101505A= (p.Thr33835=)
c.98847A= (p.Thr32949=)
c.98766A= (p.Thr32922=)
c.80529A= (p.Thr26843=)
c.70383A= (p.Thr23461=)
2g.178527493G>ACA349399870TTN,TTN-AS1c.99929C>T (p.Thr33310Ile)
c.81014C>T (p.Thr27005Ile)
c.80813C>T (p.Thr26938Ile)
c.80438C>T (p.Thr26813Ile)
c.107633C>T (p.Thr35878Ile)
c.102710C>T (p.Thr34237Ile)
n.446+3857G>A
n.219+3857G>A
c.106730C>T (p.Thr35577Ile)
c.80624C>T (p.Thr26875Ile)
c.80483C>T (p.Thr26828Ile)
c.106526C>T (p.Thr35509Ile)
c.101924C>T (p.Thr33975Ile)
c.101921C>T (p.Thr33974Ile)
c.98963C>T (p.Thr32988Ile)
c.80579C>T (p.Thr26860Ile)
c.102074C>T (p.Thr34025Ile)
c.102071C>T (p.Thr34024Ile)
c.101504C>T (p.Thr33835Ile)
c.98846C>T (p.Thr32949Ile)
c.98765C>T (p.Thr32922Ile)
c.80528C>T (p.Thr26843Ile)
c.70382C>T (p.Thr23461Ile)
 ClinVar dbSNP
2g.178527493G>CCA349399872TTN,TTN-AS1c.99929C>G (p.Thr33310Arg)
c.81014C>G (p.Thr27005Arg)
c.80813C>G (p.Thr26938Arg)
c.80438C>G (p.Thr26813Arg)
c.107633C>G (p.Thr35878Arg)
c.102710C>G (p.Thr34237Arg)
n.446+3857G>C
n.219+3857G>C
c.106730C>G (p.Thr35577Arg)
c.80624C>G (p.Thr26875Arg)
c.80483C>G (p.Thr26828Arg)
c.106526C>G (p.Thr35509Arg)
c.101924C>G (p.Thr33975Arg)
c.101921C>G (p.Thr33974Arg)
c.98963C>G (p.Thr32988Arg)
c.80579C>G (p.Thr26860Arg)
c.102074C>G (p.Thr34025Arg)
c.102071C>G (p.Thr34024Arg)
c.101504C>G (p.Thr33835Arg)
c.98846C>G (p.Thr32949Arg)
c.98765C>G (p.Thr32922Arg)
c.80528C>G (p.Thr26843Arg)
c.70382C>G (p.Thr23461Arg)
2g.178527493G=CA1310514493TTN,TTN-AS1c.99929C= (p.Thr33310=)
c.81014C= (p.Thr27005=)
c.80813C= (p.Thr26938=)
c.80438C= (p.Thr26813=)
c.107633C= (p.Thr35878=)
c.102710C= (p.Thr34237=)
n.446+3857G=
n.219+3857G=
c.106730C= (p.Thr35577=)
c.80624C= (p.Thr26875=)
c.80483C= (p.Thr26828=)
c.106526C= (p.Thr35509=)
c.101924C= (p.Thr33975=)
c.101921C= (p.Thr33974=)
c.98963C= (p.Thr32988=)
c.80579C= (p.Thr26860=)
c.102074C= (p.Thr34025=)
c.102071C= (p.Thr34024=)
c.101504C= (p.Thr33835=)
c.98846C= (p.Thr32949=)
c.98765C= (p.Thr32922=)
c.80528C= (p.Thr26843=)
c.70382C= (p.Thr23461=)
2g.178527493G>TCA349399869TTN,TTN-AS1c.99929C>A (p.Thr33310Lys)
c.81014C>A (p.Thr27005Lys)
c.80813C>A (p.Thr26938Lys)
c.80438C>A (p.Thr26813Lys)
c.107633C>A (p.Thr35878Lys)
c.102710C>A (p.Thr34237Lys)
n.446+3857G>T
n.219+3857G>T
c.106730C>A (p.Thr35577Lys)
c.80624C>A (p.Thr26875Lys)
c.80483C>A (p.Thr26828Lys)
c.106526C>A (p.Thr35509Lys)
c.101924C>A (p.Thr33975Lys)
c.101921C>A (p.Thr33974Lys)
c.98963C>A (p.Thr32988Lys)
c.80579C>A (p.Thr26860Lys)
c.102074C>A (p.Thr34025Lys)
c.102071C>A (p.Thr34024Lys)
c.101504C>A (p.Thr33835Lys)
c.98846C>A (p.Thr32949Lys)
c.98765C>A (p.Thr32922Lys)
c.80528C>A (p.Thr26843Lys)
c.70382C>A (p.Thr23461Lys)
2g.178527494T>ACA349399873TTN,TTN-AS1c.99928A>T (p.Thr33310Ser)
c.81013A>T (p.Thr27005Ser)
c.80812A>T (p.Thr26938Ser)
c.80437A>T (p.Thr26813Ser)
c.107632A>T (p.Thr35878Ser)
c.102709A>T (p.Thr34237Ser)
n.446+3858T>A
n.219+3858T>A
c.106729A>T (p.Thr35577Ser)
c.80623A>T (p.Thr26875Ser)
c.80482A>T (p.Thr26828Ser)
c.106525A>T (p.Thr35509Ser)
c.101923A>T (p.Thr33975Ser)
c.101920A>T (p.Thr33974Ser)
c.98962A>T (p.Thr32988Ser)
c.80578A>T (p.Thr26860Ser)
c.102073A>T (p.Thr34025Ser)
c.102070A>T (p.Thr34024Ser)
c.101503A>T (p.Thr33835Ser)
c.98845A>T (p.Thr32949Ser)
c.98764A>T (p.Thr32922Ser)
c.80527A>T (p.Thr26843Ser)
c.70381A>T (p.Thr23461Ser)
2g.178527494T>CCA349399875TTN,TTN-AS1c.99928A>G (p.Thr33310Ala)
c.81013A>G (p.Thr27005Ala)
c.80812A>G (p.Thr26938Ala)
c.80437A>G (p.Thr26813Ala)
c.107632A>G (p.Thr35878Ala)
c.102709A>G (p.Thr34237Ala)
n.446+3858T>C
n.219+3858T>C
c.106729A>G (p.Thr35577Ala)
c.80623A>G (p.Thr26875Ala)
c.80482A>G (p.Thr26828Ala)
c.106525A>G (p.Thr35509Ala)
c.101923A>G (p.Thr33975Ala)
c.101920A>G (p.Thr33974Ala)
c.98962A>G (p.Thr32988Ala)
c.80578A>G (p.Thr26860Ala)
c.102073A>G (p.Thr34025Ala)
c.102070A>G (p.Thr34024Ala)
c.101503A>G (p.Thr33835Ala)
c.98845A>G (p.Thr32949Ala)
c.98764A>G (p.Thr32922Ala)
c.80527A>G (p.Thr26843Ala)
c.70381A>G (p.Thr23461Ala)
 ClinVar
2g.178527494T>GCA349399877TTN,TTN-AS1c.99928A>C (p.Thr33310Pro)
c.81013A>C (p.Thr27005Pro)
c.80812A>C (p.Thr26938Pro)
c.80437A>C (p.Thr26813Pro)
c.107632A>C (p.Thr35878Pro)
c.102709A>C (p.Thr34237Pro)
n.446+3858T>G
n.219+3858T>G
c.106729A>C (p.Thr35577Pro)
c.80623A>C (p.Thr26875Pro)
c.80482A>C (p.Thr26828Pro)
c.106525A>C (p.Thr35509Pro)
c.101923A>C (p.Thr33975Pro)
c.101920A>C (p.Thr33974Pro)
c.98962A>C (p.Thr32988Pro)
c.80578A>C (p.Thr26860Pro)
c.102073A>C (p.Thr34025Pro)
c.102070A>C (p.Thr34024Pro)
c.101503A>C (p.Thr33835Pro)
c.98845A>C (p.Thr32949Pro)
c.98764A>C (p.Thr32922Pro)
c.80527A>C (p.Thr26843Pro)
c.70381A>C (p.Thr23461Pro)
2g.178527495C>ACA349399879TTN,TTN-AS1c.99927G>T (p.Met33309Ile)
c.81012G>T (p.Met27004Ile)
c.80811G>T (p.Met26937Ile)
c.80436G>T (p.Met26812Ile)
c.107631G>T (p.Met35877Ile)
c.102708G>T (p.Met34236Ile)
n.446+3859C>A
n.219+3859C>A
c.106728G>T (p.Met35576Ile)
c.80622G>T (p.Met26874Ile)
c.80481G>T (p.Met26827Ile)
c.106524G>T (p.Met35508Ile)
c.101922G>T (p.Met33974Ile)
c.101919G>T (p.Met33973Ile)
c.98961G>T (p.Met32987Ile)
c.80577G>T (p.Met26859Ile)
c.102072G>T (p.Met34024Ile)
c.102069G>T (p.Met34023Ile)
c.101502G>T (p.Met33834Ile)
c.98844G>T (p.Met32948Ile)
c.98763G>T (p.Met32921Ile)
c.80526G>T (p.Met26842Ile)
c.70380G>T (p.Met23460Ile)
2g.178527495C=CA1310514495TTN,TTN-AS1c.99927G= (p.Met33309=)
c.81012G= (p.Met27004=)
c.80811G= (p.Met26937=)
c.80436G= (p.Met26812=)
c.107631G= (p.Met35877=)
c.102708G= (p.Met34236=)
n.446+3859C=
n.219+3859C=
c.106728G= (p.Met35576=)
c.80622G= (p.Met26874=)
c.80481G= (p.Met26827=)
c.106524G= (p.Met35508=)
c.101922G= (p.Met33974=)
c.101919G= (p.Met33973=)
c.98961G= (p.Met32987=)
c.80577G= (p.Met26859=)
c.102072G= (p.Met34024=)
c.102069G= (p.Met34023=)
c.101502G= (p.Met33834=)
c.98844G= (p.Met32948=)
c.98763G= (p.Met32921=)
c.80526G= (p.Met26842=)
c.70380G= (p.Met23460=)
2g.178527495C>GCA349399880TTN,TTN-AS1c.99927G>C (p.Met33309Ile)
c.81012G>C (p.Met27004Ile)
c.80811G>C (p.Met26937Ile)
c.80436G>C (p.Met26812Ile)
c.107631G>C (p.Met35877Ile)
c.102708G>C (p.Met34236Ile)
n.446+3859C>G
n.219+3859C>G
c.106728G>C (p.Met35576Ile)
c.80622G>C (p.Met26874Ile)
c.80481G>C (p.Met26827Ile)
c.106524G>C (p.Met35508Ile)
c.101922G>C (p.Met33974Ile)
c.101919G>C (p.Met33973Ile)
c.98961G>C (p.Met32987Ile)
c.80577G>C (p.Met26859Ile)
c.102072G>C (p.Met34024Ile)
c.102069G>C (p.Met34023Ile)
c.101502G>C (p.Met33834Ile)
c.98844G>C (p.Met32948Ile)
c.98763G>C (p.Met32921Ile)
c.80526G>C (p.Met26842Ile)
c.70380G>C (p.Met23460Ile)
2g.178527495C>TCA349399881TTN,TTN-AS1c.99927G>A (p.Met33309Ile)
c.81012G>A (p.Met27004Ile)
c.80811G>A (p.Met26937Ile)
c.80436G>A (p.Met26812Ile)
c.107631G>A (p.Met35877Ile)
c.102708G>A (p.Met34236Ile)
n.446+3859C>T
n.219+3859C>T
c.106728G>A (p.Met35576Ile)
c.80622G>A (p.Met26874Ile)
c.80481G>A (p.Met26827Ile)
c.106524G>A (p.Met35508Ile)
c.101922G>A (p.Met33974Ile)
c.101919G>A (p.Met33973Ile)
c.98961G>A (p.Met32987Ile)
c.80577G>A (p.Met26859Ile)
c.102072G>A (p.Met34024Ile)
c.102069G>A (p.Met34023Ile)
c.101502G>A (p.Met33834Ile)
c.98844G>A (p.Met32948Ile)
c.98763G>A (p.Met32921Ile)
c.80526G>A (p.Met26842Ile)
c.70380G>A (p.Met23460Ile)
 ClinVar dbSNP gnomAD v4
2g.178527495_178527497delinsCATCA1310514494TTN,TTN-AS1c.99925_99927delinsATG (p.Met33309=)
c.81010_81012delinsATG (p.Met27004=)
c.80809_80811delinsATG (p.Met26937=)
c.80434_80436delinsATG (p.Met26812=)
c.107629_107631delinsATG (p.Met35877=)
c.102706_102708delinsATG (p.Met34236=)
n.446+3859_446+3861delinsCAT
n.219+3859_219+3861delinsCAT
c.106726_106728delinsATG (p.Met35576=)
c.80620_80622delinsATG (p.Met26874=)
c.80479_80481delinsATG (p.Met26827=)
c.106522_106524delinsATG (p.Met35508=)
c.101920_101922delinsATG (p.Met33974=)
c.101917_101919delinsATG (p.Met33973=)
c.98959_98961delinsATG (p.Met32987=)
c.80575_80577delinsATG (p.Met26859=)
c.102070_102072delinsATG (p.Met34024=)
c.102067_102069delinsATG (p.Met34023=)
c.101500_101502delinsATG (p.Met33834=)
c.98842_98844delinsATG (p.Met32948=)
c.98761_98763delinsATG (p.Met32921=)
c.80524_80526delinsATG (p.Met26842=)
c.70378_70380delinsATG (p.Met23460=)
2g.178527496A=CA1310514496TTN,TTN-AS1c.99926T= (p.Met33309=)
c.81011T= (p.Met27004=)
c.80810T= (p.Met26937=)
c.80435T= (p.Met26812=)
c.107630T= (p.Met35877=)
c.102707T= (p.Met34236=)
n.446+3860A=
n.219+3860A=
c.106727T= (p.Met35576=)
c.80621T= (p.Met26874=)
c.80480T= (p.Met26827=)
c.106523T= (p.Met35508=)
c.101921T= (p.Met33974=)
c.101918T= (p.Met33973=)
c.98960T= (p.Met32987=)
c.80576T= (p.Met26859=)
c.102071T= (p.Met34024=)
c.102068T= (p.Met34023=)
c.101501T= (p.Met33834=)
c.98843T= (p.Met32948=)
c.98762T= (p.Met32921=)
c.80525T= (p.Met26842=)
c.70379T= (p.Met23460=)
2g.178527496A>CCA349399883TTN,TTN-AS1c.99926T>G (p.Met33309Arg)
c.81011T>G (p.Met27004Arg)
c.80810T>G (p.Met26937Arg)
c.80435T>G (p.Met26812Arg)
c.107630T>G (p.Met35877Arg)
c.102707T>G (p.Met34236Arg)
n.446+3860A>C
n.219+3860A>C
c.106727T>G (p.Met35576Arg)
c.80621T>G (p.Met26874Arg)
c.80480T>G (p.Met26827Arg)
c.106523T>G (p.Met35508Arg)
c.101921T>G (p.Met33974Arg)
c.101918T>G (p.Met33973Arg)
c.98960T>G (p.Met32987Arg)
c.80576T>G (p.Met26859Arg)
c.102071T>G (p.Met34024Arg)
c.102068T>G (p.Met34023Arg)
c.101501T>G (p.Met33834Arg)
c.98843T>G (p.Met32948Arg)
c.98762T>G (p.Met32921Arg)
c.80525T>G (p.Met26842Arg)
c.70379T>G (p.Met23460Arg)
2g.178527496A>GCA1984917TTN,TTN-AS1c.99926T>C (p.Met33309Thr)
c.81011T>C (p.Met27004Thr)
c.80810T>C (p.Met26937Thr)
c.80435T>C (p.Met26812Thr)
c.107630T>C (p.Met35877Thr)
c.102707T>C (p.Met34236Thr)
n.446+3860A>G
n.219+3860A>G
c.106727T>C (p.Met35576Thr)
c.80621T>C (p.Met26874Thr)
c.80480T>C (p.Met26827Thr)
c.106523T>C (p.Met35508Thr)
c.101921T>C (p.Met33974Thr)
c.101918T>C (p.Met33973Thr)
c.98960T>C (p.Met32987Thr)
c.80576T>C (p.Met26859Thr)
c.102071T>C (p.Met34024Thr)
c.102068T>C (p.Met34023Thr)
c.101501T>C (p.Met33834Thr)
c.98843T>C (p.Met32948Thr)
c.98762T>C (p.Met32921Thr)
c.80525T>C (p.Met26842Thr)
c.70379T>C (p.Met23460Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527496A>TCA349399885TTN,TTN-AS1c.99926T>A (p.Met33309Lys)
c.81011T>A (p.Met27004Lys)
c.80810T>A (p.Met26937Lys)
c.80435T>A (p.Met26812Lys)
c.107630T>A (p.Met35877Lys)
c.102707T>A (p.Met34236Lys)
n.446+3860A>T
n.219+3860A>T
c.106727T>A (p.Met35576Lys)
c.80621T>A (p.Met26874Lys)
c.80480T>A (p.Met26827Lys)
c.106523T>A (p.Met35508Lys)
c.101921T>A (p.Met33974Lys)
c.101918T>A (p.Met33973Lys)
c.98960T>A (p.Met32987Lys)
c.80576T>A (p.Met26859Lys)
c.102071T>A (p.Met34024Lys)
c.102068T>A (p.Met34023Lys)
c.101501T>A (p.Met33834Lys)
c.98843T>A (p.Met32948Lys)
c.98762T>A (p.Met32921Lys)
c.80525T>A (p.Met26842Lys)
c.70379T>A (p.Met23460Lys)
2g.178527498_178527499delCA761282174TTN,TTN-AS1c.99925_99926del (p.Met33309AspfsTer8)
c.81010_81011del (p.Met27004AspfsTer8)
c.80809_80810del (p.Met26937AspfsTer8)
c.80434_80435del (p.Met26812AspfsTer8)
c.107629_107630del (p.Met35877AspfsTer8)
c.102706_102707del (p.Met34236AspfsTer8)
n.446+3862_446+3863del
n.219+3862_219+3863del
c.106726_106727del (p.Met35576AspfsTer8)
c.80620_80621del (p.Met26874AspfsTer8)
c.80479_80480del (p.Met26827AspfsTer8)
c.106522_106523del (p.Met35508AspfsTer8)
c.101920_101921del (p.Met33974AspfsTer8)
c.101917_101918del (p.Met33973AspfsTer8)
c.98959_98960del (p.Met32987AspfsTer8)
c.80575_80576del (p.Met26859AspfsTer8)
c.102070_102071del (p.Met34024AspfsTer8)
c.102067_102068del (p.Met34023AspfsTer8)
c.101500_101501del (p.Met33834AspfsTer8)
c.98842_98843del (p.Met32948AspfsTer8)
c.98761_98762del (p.Met32921AspfsTer8)
c.80524_80525del (p.Met26842AspfsTer8)
c.70378_70379del (p.Met23460AspfsTer8)
 dbSNP gnomAD v3 gnomAD v4
2g.178527497T>ACA349399887TTN,TTN-AS1c.99925A>T (p.Met33309Leu)
c.81010A>T (p.Met27004Leu)
c.80809A>T (p.Met26937Leu)
c.80434A>T (p.Met26812Leu)
c.107629A>T (p.Met35877Leu)
c.102706A>T (p.Met34236Leu)
n.446+3861T>A
n.219+3861T>A
c.106726A>T (p.Met35576Leu)
c.80620A>T (p.Met26874Leu)
c.80479A>T (p.Met26827Leu)
c.106522A>T (p.Met35508Leu)
c.101920A>T (p.Met33974Leu)
c.101917A>T (p.Met33973Leu)
c.98959A>T (p.Met32987Leu)
c.80575A>T (p.Met26859Leu)
c.102070A>T (p.Met34024Leu)
c.102067A>T (p.Met34023Leu)
c.101500A>T (p.Met33834Leu)
c.98842A>T (p.Met32948Leu)
c.98761A>T (p.Met32921Leu)
c.80524A>T (p.Met26842Leu)
c.70378A>T (p.Met23460Leu)
2g.178527497T>CCA349399888TTN,TTN-AS1c.99925A>G (p.Met33309Val)
c.81010A>G (p.Met27004Val)
c.80809A>G (p.Met26937Val)
c.80434A>G (p.Met26812Val)
c.107629A>G (p.Met35877Val)
c.102706A>G (p.Met34236Val)
n.446+3861T>C
n.219+3861T>C
c.106726A>G (p.Met35576Val)
c.80620A>G (p.Met26874Val)
c.80479A>G (p.Met26827Val)
c.106522A>G (p.Met35508Val)
c.101920A>G (p.Met33974Val)
c.101917A>G (p.Met33973Val)
c.98959A>G (p.Met32987Val)
c.80575A>G (p.Met26859Val)
c.102070A>G (p.Met34024Val)
c.102067A>G (p.Met34023Val)
c.101500A>G (p.Met33834Val)
c.98842A>G (p.Met32948Val)
c.98761A>G (p.Met32921Val)
c.80524A>G (p.Met26842Val)
c.70378A>G (p.Met23460Val)
2g.178527497T>GCA349399890TTN,TTN-AS1c.99925A>C (p.Met33309Leu)
c.81010A>C (p.Met27004Leu)
c.80809A>C (p.Met26937Leu)
c.80434A>C (p.Met26812Leu)
c.107629A>C (p.Met35877Leu)
c.102706A>C (p.Met34236Leu)
n.446+3861T>G
n.219+3861T>G
c.106726A>C (p.Met35576Leu)
c.80620A>C (p.Met26874Leu)
c.80479A>C (p.Met26827Leu)
c.106522A>C (p.Met35508Leu)
c.101920A>C (p.Met33974Leu)
c.101917A>C (p.Met33973Leu)
c.98959A>C (p.Met32987Leu)
c.80575A>C (p.Met26859Leu)
c.102070A>C (p.Met34024Leu)
c.102067A>C (p.Met34023Leu)
c.101500A>C (p.Met33834Leu)
c.98842A>C (p.Met32948Leu)
c.98761A>C (p.Met32921Leu)
c.80524A>C (p.Met26842Leu)
c.70378A>C (p.Met23460Leu)
2g.178527497_178527498delinsTACA1310514497TTN,TTN-AS1c.99924_99925delinsTA (p.Asn33308=)
c.81009_81010delinsTA (p.Asn27003=)
c.80808_80809delinsTA (p.Asn26936=)
c.80433_80434delinsTA (p.Asn26811=)
c.107628_107629delinsTA (p.Asn35876=)
c.102705_102706delinsTA (p.Asn34235=)
n.446+3861_446+3862delinsTA
n.219+3861_219+3862delinsTA
c.106725_106726delinsTA (p.Asn35575=)
c.80619_80620delinsTA (p.Asn26873=)
c.80478_80479delinsTA (p.Asn26826=)
c.106521_106522delinsTA (p.Asn35507=)
c.101919_101920delinsTA (p.Asn33973=)
c.101916_101917delinsTA (p.Asn33972=)
c.98958_98959delinsTA (p.Asn32986=)
c.80574_80575delinsTA (p.Asn26858=)
c.102069_102070delinsTA (p.Asn34023=)
c.102066_102067delinsTA (p.Asn34022=)
c.101499_101500delinsTA (p.Asn33833=)
c.98841_98842delinsTA (p.Asn32947=)
c.98760_98761delinsTA (p.Asn32920=)
c.80523_80524delinsTA (p.Asn26841=)
c.70377_70378delinsTA (p.Asn23459=)
2g.178527498delCA1984918TTN,TTN-AS1c.99924del (p.Asn33308LysfsTer2)
c.81009del (p.Asn27003LysfsTer2)
c.80808del (p.Asn26936LysfsTer2)
c.80433del (p.Asn26811LysfsTer2)
c.107628del (p.Asn35876LysfsTer2)
c.102705del (p.Asn34235LysfsTer2)
n.446+3862del
n.219+3862del
c.106725del (p.Asn35575LysfsTer2)
c.80619del (p.Asn26873LysfsTer2)
c.80478del (p.Asn26826LysfsTer2)
c.106521del (p.Asn35507LysfsTer2)
c.101919del (p.Asn33973LysfsTer2)
c.101916del (p.Asn33972LysfsTer2)
c.98958del (p.Asn32986LysfsTer2)
c.80574del (p.Asn26858LysfsTer2)
c.102069del (p.Asn34023LysfsTer2)
c.102066del (p.Asn34022LysfsTer2)
c.101499del (p.Asn33833LysfsTer2)
c.98841del (p.Asn32947LysfsTer2)
c.98760del (p.Asn32920LysfsTer2)
c.80523del (p.Asn26841LysfsTer2)
c.70377del (p.Asn23459LysfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527498A>CCA349399894TTN,TTN-AS1c.99924T>G (p.Asn33308Lys)
c.81009T>G (p.Asn27003Lys)
c.80808T>G (p.Asn26936Lys)
c.80433T>G (p.Asn26811Lys)
c.107628T>G (p.Asn35876Lys)
c.102705T>G (p.Asn34235Lys)
n.446+3862A>C
n.219+3862A>C
c.106725T>G (p.Asn35575Lys)
c.80619T>G (p.Asn26873Lys)
c.80478T>G (p.Asn26826Lys)
c.106521T>G (p.Asn35507Lys)
c.101919T>G (p.Asn33973Lys)
c.101916T>G (p.Asn33972Lys)
c.98958T>G (p.Asn32986Lys)
c.80574T>G (p.Asn26858Lys)
c.102069T>G (p.Asn34023Lys)
c.102066T>G (p.Asn34022Lys)
c.101499T>G (p.Asn33833Lys)
c.98841T>G (p.Asn32947Lys)
c.98760T>G (p.Asn32920Lys)
c.80523T>G (p.Asn26841Lys)
c.70377T>G (p.Asn23459Lys)
2g.178527498A>GCA430234207TTN,TTN-AS1c.99924T>C (p.Asn33308=)
c.81009T>C (p.Asn27003=)
c.80808T>C (p.Asn26936=)
c.80433T>C (p.Asn26811=)
c.107628T>C (p.Asn35876=)
c.102705T>C (p.Asn34235=)
n.446+3862A>G
n.219+3862A>G
c.106725T>C (p.Asn35575=)
c.80619T>C (p.Asn26873=)
c.80478T>C (p.Asn26826=)
c.106521T>C (p.Asn35507=)
c.101919T>C (p.Asn33973=)
c.101916T>C (p.Asn33972=)
c.98958T>C (p.Asn32986=)
c.80574T>C (p.Asn26858=)
c.102069T>C (p.Asn34023=)
c.102066T>C (p.Asn34022=)
c.101499T>C (p.Asn33833=)
c.98841T>C (p.Asn32947=)
c.98760T>C (p.Asn32920=)
c.80523T>C (p.Asn26841=)
c.70377T>C (p.Asn23459=)
2g.178527498A>TCA349399893TTN,TTN-AS1c.99924T>A (p.Asn33308Lys)
c.81009T>A (p.Asn27003Lys)
c.80808T>A (p.Asn26936Lys)
c.80433T>A (p.Asn26811Lys)
c.107628T>A (p.Asn35876Lys)
c.102705T>A (p.Asn34235Lys)
n.446+3862A>T
n.219+3862A>T
c.106725T>A (p.Asn35575Lys)
c.80619T>A (p.Asn26873Lys)
c.80478T>A (p.Asn26826Lys)
c.106521T>A (p.Asn35507Lys)
c.101919T>A (p.Asn33973Lys)
c.101916T>A (p.Asn33972Lys)
c.98958T>A (p.Asn32986Lys)
c.80574T>A (p.Asn26858Lys)
c.102069T>A (p.Asn34023Lys)
c.102066T>A (p.Asn34022Lys)
c.101499T>A (p.Asn33833Lys)
c.98841T>A (p.Asn32947Lys)
c.98760T>A (p.Asn32920Lys)
c.80523T>A (p.Asn26841Lys)
c.70377T>A (p.Asn23459Lys)
2g.178527499T>ACA349399896TTN,TTN-AS1c.99923A>T (p.Asn33308Ile)
c.81008A>T (p.Asn27003Ile)
c.80807A>T (p.Asn26936Ile)
c.80432A>T (p.Asn26811Ile)
c.107627A>T (p.Asn35876Ile)
c.102704A>T (p.Asn34235Ile)
n.446+3863T>A
n.219+3863T>A
c.106724A>T (p.Asn35575Ile)
c.80618A>T (p.Asn26873Ile)
c.80477A>T (p.Asn26826Ile)
c.106520A>T (p.Asn35507Ile)
c.101918A>T (p.Asn33973Ile)
c.101915A>T (p.Asn33972Ile)
c.98957A>T (p.Asn32986Ile)
c.80573A>T (p.Asn26858Ile)
c.102068A>T (p.Asn34023Ile)
c.102065A>T (p.Asn34022Ile)
c.101498A>T (p.Asn33833Ile)
c.98840A>T (p.Asn32947Ile)
c.98759A>T (p.Asn32920Ile)
c.80522A>T (p.Asn26841Ile)
c.70376A>T (p.Asn23459Ile)
2g.178527499T>CCA1984919TTN,TTN-AS1c.99923A>G (p.Asn33308Ser)
c.81008A>G (p.Asn27003Ser)
c.80807A>G (p.Asn26936Ser)
c.80432A>G (p.Asn26811Ser)
c.107627A>G (p.Asn35876Ser)
c.102704A>G (p.Asn34235Ser)
n.446+3863T>C
n.219+3863T>C
c.106724A>G (p.Asn35575Ser)
c.80618A>G (p.Asn26873Ser)
c.80477A>G (p.Asn26826Ser)
c.106520A>G (p.Asn35507Ser)
c.101918A>G (p.Asn33973Ser)
c.101915A>G (p.Asn33972Ser)
c.98957A>G (p.Asn32986Ser)
c.80573A>G (p.Asn26858Ser)
c.102068A>G (p.Asn34023Ser)
c.102065A>G (p.Asn34022Ser)
c.101498A>G (p.Asn33833Ser)
c.98840A>G (p.Asn32947Ser)
c.98759A>G (p.Asn32920Ser)
c.80522A>G (p.Asn26841Ser)
c.70376A>G (p.Asn23459Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527499T>GCA349399898TTN,TTN-AS1c.99923A>C (p.Asn33308Thr)
c.81008A>C (p.Asn27003Thr)
c.80807A>C (p.Asn26936Thr)
c.80432A>C (p.Asn26811Thr)
c.107627A>C (p.Asn35876Thr)
c.102704A>C (p.Asn34235Thr)
n.446+3863T>G
n.219+3863T>G
c.106724A>C (p.Asn35575Thr)
c.80618A>C (p.Asn26873Thr)
c.80477A>C (p.Asn26826Thr)
c.106520A>C (p.Asn35507Thr)
c.101918A>C (p.Asn33973Thr)
c.101915A>C (p.Asn33972Thr)
c.98957A>C (p.Asn32986Thr)
c.80573A>C (p.Asn26858Thr)
c.102068A>C (p.Asn34023Thr)
c.102065A>C (p.Asn34022Thr)
c.101498A>C (p.Asn33833Thr)
c.98840A>C (p.Asn32947Thr)
c.98759A>C (p.Asn32920Thr)
c.80522A>C (p.Asn26841Thr)
c.70376A>C (p.Asn23459Thr)
2g.178527499T=CA1310514498TTN,TTN-AS1c.99923A= (p.Asn33308=)
c.81008A= (p.Asn27003=)
c.80807A= (p.Asn26936=)
c.80432A= (p.Asn26811=)
c.107627A= (p.Asn35876=)
c.102704A= (p.Asn34235=)
n.446+3863T=
n.219+3863T=
c.106724A= (p.Asn35575=)
c.80618A= (p.Asn26873=)
c.80477A= (p.Asn26826=)
c.106520A= (p.Asn35507=)
c.101918A= (p.Asn33973=)
c.101915A= (p.Asn33972=)
c.98957A= (p.Asn32986=)
c.80573A= (p.Asn26858=)
c.102068A= (p.Asn34023=)
c.102065A= (p.Asn34022=)
c.101498A= (p.Asn33833=)
c.98840A= (p.Asn32947=)
c.98759A= (p.Asn32920=)
c.80522A= (p.Asn26841=)
c.70376A= (p.Asn23459=)
2g.178527500T>ACA349399900TTN,TTN-AS1c.99922A>T (p.Asn33308Tyr)
c.81007A>T (p.Asn27003Tyr)
c.80806A>T (p.Asn26936Tyr)
c.80431A>T (p.Asn26811Tyr)
c.107626A>T (p.Asn35876Tyr)
c.102703A>T (p.Asn34235Tyr)
n.446+3864T>A
n.219+3864T>A
c.106723A>T (p.Asn35575Tyr)
c.80617A>T (p.Asn26873Tyr)
c.80476A>T (p.Asn26826Tyr)
c.106519A>T (p.Asn35507Tyr)
c.101917A>T (p.Asn33973Tyr)
c.101914A>T (p.Asn33972Tyr)
c.98956A>T (p.Asn32986Tyr)
c.80572A>T (p.Asn26858Tyr)
c.102067A>T (p.Asn34023Tyr)
c.102064A>T (p.Asn34022Tyr)
c.101497A>T (p.Asn33833Tyr)
c.98839A>T (p.Asn32947Tyr)
c.98758A>T (p.Asn32920Tyr)
c.80521A>T (p.Asn26841Tyr)
c.70375A>T (p.Asn23459Tyr)
2g.178527500T>CCA349399901TTN,TTN-AS1c.99922A>G (p.Asn33308Asp)
c.81007A>G (p.Asn27003Asp)
c.80806A>G (p.Asn26936Asp)
c.80431A>G (p.Asn26811Asp)
c.107626A>G (p.Asn35876Asp)
c.102703A>G (p.Asn34235Asp)
n.446+3864T>C
n.219+3864T>C
c.106723A>G (p.Asn35575Asp)
c.80617A>G (p.Asn26873Asp)
c.80476A>G (p.Asn26826Asp)
c.106519A>G (p.Asn35507Asp)
c.101917A>G (p.Asn33973Asp)
c.101914A>G (p.Asn33972Asp)
c.98956A>G (p.Asn32986Asp)
c.80572A>G (p.Asn26858Asp)
c.102067A>G (p.Asn34023Asp)
c.102064A>G (p.Asn34022Asp)
c.101497A>G (p.Asn33833Asp)
c.98839A>G (p.Asn32947Asp)
c.98758A>G (p.Asn32920Asp)
c.80521A>G (p.Asn26841Asp)
c.70375A>G (p.Asn23459Asp)
2g.178527500T>GCA349399903TTN,TTN-AS1c.99922A>C (p.Asn33308His)
c.81007A>C (p.Asn27003His)
c.80806A>C (p.Asn26936His)
c.80431A>C (p.Asn26811His)
c.107626A>C (p.Asn35876His)
c.102703A>C (p.Asn34235His)
n.446+3864T>G
n.219+3864T>G
c.106723A>C (p.Asn35575His)
c.80617A>C (p.Asn26873His)
c.80476A>C (p.Asn26826His)
c.106519A>C (p.Asn35507His)
c.101917A>C (p.Asn33973His)
c.101914A>C (p.Asn33972His)
c.98956A>C (p.Asn32986His)
c.80572A>C (p.Asn26858His)
c.102067A>C (p.Asn34023His)
c.102064A>C (p.Asn34022His)
c.101497A>C (p.Asn33833His)
c.98839A>C (p.Asn32947His)
c.98758A>C (p.Asn32920His)
c.80521A>C (p.Asn26841His)
c.70375A>C (p.Asn23459His)
2g.178527502_178527505dupCA913189590TTN,TTN-AS1c.99919_99922dup (p.Asn33308IlefsTer2)
c.81004_81007dup (p.Asn27003IlefsTer2)
c.80803_80806dup (p.Asn26936IlefsTer2)
c.80428_80431dup (p.Asn26811IlefsTer2)
c.107623_107626dup (p.Asn35876IlefsTer2)
c.102700_102703dup (p.Asn34235IlefsTer2)
n.446+3866_446+3869dup
n.219+3866_219+3869dup
c.106720_106723dup (p.Asn35575IlefsTer2)
c.80614_80617dup (p.Asn26873IlefsTer2)
c.80473_80476dup (p.Asn26826IlefsTer2)
c.106516_106519dup (p.Asn35507IlefsTer2)
c.101914_101917dup (p.Asn33973IlefsTer2)
c.101911_101914dup (p.Asn33972IlefsTer2)
c.98953_98956dup (p.Asn32986IlefsTer2)
c.80569_80572dup (p.Asn26858IlefsTer2)
c.102064_102067dup (p.Asn34023IlefsTer2)
c.102061_102064dup (p.Asn34022IlefsTer2)
c.101494_101497dup (p.Asn33833IlefsTer2)
c.98836_98839dup (p.Asn32947IlefsTer2)
c.98755_98758dup (p.Asn32920IlefsTer2)
c.80518_80521dup (p.Asn26841IlefsTer2)
c.70372_70375dup (p.Asn23459IlefsTer2)
 ClinVar dbSNP
2g.178527501A>CCA430234213TTN,TTN-AS1c.99921T>G (p.Ser33307=)
c.81006T>G (p.Ser27002=)
c.80805T>G (p.Ser26935=)
c.80430T>G (p.Ser26810=)
c.107625T>G (p.Ser35875=)
c.102702T>G (p.Ser34234=)
n.446+3865A>C
n.219+3865A>C
c.106722T>G (p.Ser35574=)
c.80616T>G (p.Ser26872=)
c.80475T>G (p.Ser26825=)
c.106518T>G (p.Ser35506=)
c.101916T>G (p.Ser33972=)
c.101913T>G (p.Ser33971=)
c.98955T>G (p.Ser32985=)
c.80571T>G (p.Ser26857=)
c.102066T>G (p.Ser34022=)
c.102063T>G (p.Ser34021=)
c.101496T>G (p.Ser33832=)
c.98838T>G (p.Ser32946=)
c.98757T>G (p.Ser32919=)
c.80520T>G (p.Ser26840=)
c.70374T>G (p.Ser23458=)
2g.178527501A>GCA430234214TTN,TTN-AS1c.99921T>C (p.Ser33307=)
c.81006T>C (p.Ser27002=)
c.80805T>C (p.Ser26935=)
c.80430T>C (p.Ser26810=)
c.107625T>C (p.Ser35875=)
c.102702T>C (p.Ser34234=)
n.446+3865A>G
n.219+3865A>G
c.106722T>C (p.Ser35574=)
c.80616T>C (p.Ser26872=)
c.80475T>C (p.Ser26825=)
c.106518T>C (p.Ser35506=)
c.101916T>C (p.Ser33972=)
c.101913T>C (p.Ser33971=)
c.98955T>C (p.Ser32985=)
c.80571T>C (p.Ser26857=)
c.102066T>C (p.Ser34022=)
c.102063T>C (p.Ser34021=)
c.101496T>C (p.Ser33832=)
c.98838T>C (p.Ser32946=)
c.98757T>C (p.Ser32919=)
c.80520T>C (p.Ser26840=)
c.70374T>C (p.Ser23458=)
2g.178527501A>TCA430234215TTN,TTN-AS1c.99921T>A (p.Ser33307=)
c.81006T>A (p.Ser27002=)
c.80805T>A (p.Ser26935=)
c.80430T>A (p.Ser26810=)
c.107625T>A (p.Ser35875=)
c.102702T>A (p.Ser34234=)
n.446+3865A>T
n.219+3865A>T
c.106722T>A (p.Ser35574=)
c.80616T>A (p.Ser26872=)
c.80475T>A (p.Ser26825=)
c.106518T>A (p.Ser35506=)
c.101916T>A (p.Ser33972=)
c.101913T>A (p.Ser33971=)
c.98955T>A (p.Ser32985=)
c.80571T>A (p.Ser26857=)
c.102066T>A (p.Ser34022=)
c.102063T>A (p.Ser34021=)
c.101496T>A (p.Ser33832=)
c.98838T>A (p.Ser32946=)
c.98757T>A (p.Ser32919=)
c.80520T>A (p.Ser26840=)
c.70374T>A (p.Ser23458=)
2g.178527502G>ACA349399905TTN,TTN-AS1c.99920C>T (p.Ser33307Phe)
c.81005C>T (p.Ser27002Phe)
c.80804C>T (p.Ser26935Phe)
c.80429C>T (p.Ser26810Phe)
c.107624C>T (p.Ser35875Phe)
c.102701C>T (p.Ser34234Phe)
n.446+3866G>A
n.219+3866G>A
c.106721C>T (p.Ser35574Phe)
c.80615C>T (p.Ser26872Phe)
c.80474C>T (p.Ser26825Phe)
c.106517C>T (p.Ser35506Phe)
c.101915C>T (p.Ser33972Phe)
c.101912C>T (p.Ser33971Phe)
c.98954C>T (p.Ser32985Phe)
c.80570C>T (p.Ser26857Phe)
c.102065C>T (p.Ser34022Phe)
c.102062C>T (p.Ser34021Phe)
c.101495C>T (p.Ser33832Phe)
c.98837C>T (p.Ser32946Phe)
c.98756C>T (p.Ser32919Phe)
c.80519C>T (p.Ser26840Phe)
c.70373C>T (p.Ser23458Phe)
2g.178527502G>CCA349399906TTN,TTN-AS1c.99920C>G (p.Ser33307Cys)
c.81005C>G (p.Ser27002Cys)
c.80804C>G (p.Ser26935Cys)
c.80429C>G (p.Ser26810Cys)
c.107624C>G (p.Ser35875Cys)
c.102701C>G (p.Ser34234Cys)
n.446+3866G>C
n.219+3866G>C
c.106721C>G (p.Ser35574Cys)
c.80615C>G (p.Ser26872Cys)
c.80474C>G (p.Ser26825Cys)
c.106517C>G (p.Ser35506Cys)
c.101915C>G (p.Ser33972Cys)
c.101912C>G (p.Ser33971Cys)
c.98954C>G (p.Ser32985Cys)
c.80570C>G (p.Ser26857Cys)
c.102065C>G (p.Ser34022Cys)
c.102062C>G (p.Ser34021Cys)
c.101495C>G (p.Ser33832Cys)
c.98837C>G (p.Ser32946Cys)
c.98756C>G (p.Ser32919Cys)
c.80519C>G (p.Ser26840Cys)
c.70373C>G (p.Ser23458Cys)
 gnomAD v4
2g.178527502G>TCA349399907TTN,TTN-AS1c.99920C>A (p.Ser33307Tyr)
c.81005C>A (p.Ser27002Tyr)
c.80804C>A (p.Ser26935Tyr)
c.80429C>A (p.Ser26810Tyr)
c.107624C>A (p.Ser35875Tyr)
c.102701C>A (p.Ser34234Tyr)
n.446+3866G>T
n.219+3866G>T
c.106721C>A (p.Ser35574Tyr)
c.80615C>A (p.Ser26872Tyr)
c.80474C>A (p.Ser26825Tyr)
c.106517C>A (p.Ser35506Tyr)
c.101915C>A (p.Ser33972Tyr)
c.101912C>A (p.Ser33971Tyr)
c.98954C>A (p.Ser32985Tyr)
c.80570C>A (p.Ser26857Tyr)
c.102065C>A (p.Ser34022Tyr)
c.102062C>A (p.Ser34021Tyr)
c.101495C>A (p.Ser33832Tyr)
c.98837C>A (p.Ser32946Tyr)
c.98756C>A (p.Ser32919Tyr)
c.80519C>A (p.Ser26840Tyr)
c.70373C>A (p.Ser23458Tyr)
2g.178527503A>CCA349399908TTN,TTN-AS1c.99919T>G (p.Ser33307Ala)
c.81004T>G (p.Ser27002Ala)
c.80803T>G (p.Ser26935Ala)
c.80428T>G (p.Ser26810Ala)
c.107623T>G (p.Ser35875Ala)
c.102700T>G (p.Ser34234Ala)
n.446+3867A>C
n.219+3867A>C
c.106720T>G (p.Ser35574Ala)
c.80614T>G (p.Ser26872Ala)
c.80473T>G (p.Ser26825Ala)
c.106516T>G (p.Ser35506Ala)
c.101914T>G (p.Ser33972Ala)
c.101911T>G (p.Ser33971Ala)
c.98953T>G (p.Ser32985Ala)
c.80569T>G (p.Ser26857Ala)
c.102064T>G (p.Ser34022Ala)
c.102061T>G (p.Ser34021Ala)
c.101494T>G (p.Ser33832Ala)
c.98836T>G (p.Ser32946Ala)
c.98755T>G (p.Ser32919Ala)
c.80518T>G (p.Ser26840Ala)
c.70372T>G (p.Ser23458Ala)
2g.178527503A>GCA349399909TTN,TTN-AS1c.99919T>C (p.Ser33307Pro)
c.81004T>C (p.Ser27002Pro)
c.80803T>C (p.Ser26935Pro)
c.80428T>C (p.Ser26810Pro)
c.107623T>C (p.Ser35875Pro)
c.102700T>C (p.Ser34234Pro)
n.446+3867A>G
n.219+3867A>G
c.106720T>C (p.Ser35574Pro)
c.80614T>C (p.Ser26872Pro)
c.80473T>C (p.Ser26825Pro)
c.106516T>C (p.Ser35506Pro)
c.101914T>C (p.Ser33972Pro)
c.101911T>C (p.Ser33971Pro)
c.98953T>C (p.Ser32985Pro)
c.80569T>C (p.Ser26857Pro)
c.102064T>C (p.Ser34022Pro)
c.102061T>C (p.Ser34021Pro)
c.101494T>C (p.Ser33832Pro)
c.98836T>C (p.Ser32946Pro)
c.98755T>C (p.Ser32919Pro)
c.80518T>C (p.Ser26840Pro)
c.70372T>C (p.Ser23458Pro)
 ClinVar
2g.178527503A>TCA349399910TTN,TTN-AS1c.99919T>A (p.Ser33307Thr)
c.81004T>A (p.Ser27002Thr)
c.80803T>A (p.Ser26935Thr)
c.80428T>A (p.Ser26810Thr)
c.107623T>A (p.Ser35875Thr)
c.102700T>A (p.Ser34234Thr)
n.446+3867A>T
n.219+3867A>T
c.106720T>A (p.Ser35574Thr)
c.80614T>A (p.Ser26872Thr)
c.80473T>A (p.Ser26825Thr)
c.106516T>A (p.Ser35506Thr)
c.101914T>A (p.Ser33972Thr)
c.101911T>A (p.Ser33971Thr)
c.98953T>A (p.Ser32985Thr)
c.80569T>A (p.Ser26857Thr)
c.102064T>A (p.Ser34022Thr)
c.102061T>A (p.Ser34021Thr)
c.101494T>A (p.Ser33832Thr)
c.98836T>A (p.Ser32946Thr)
c.98755T>A (p.Ser32919Thr)
c.80518T>A (p.Ser26840Thr)
c.70372T>A (p.Ser23458Thr)
2g.178527504T>ACA1984920TTN,TTN-AS1c.99918A>T (p.Ile33306=)
c.81003A>T (p.Ile27001=)
c.80802A>T (p.Ile26934=)
c.80427A>T (p.Ile26809=)
c.107622A>T (p.Ile35874=)
c.102699A>T (p.Ile34233=)
n.446+3868T>A
n.219+3868T>A
c.106719A>T (p.Ile35573=)
c.80613A>T (p.Ile26871=)
c.80472A>T (p.Ile26824=)
c.106515A>T (p.Ile35505=)
c.101913A>T (p.Ile33971=)
c.101910A>T (p.Ile33970=)
c.98952A>T (p.Ile32984=)
c.80568A>T (p.Ile26856=)
c.102063A>T (p.Ile34021=)
c.102060A>T (p.Ile34020=)
c.101493A>T (p.Ile33831=)
c.98835A>T (p.Ile32945=)
c.98754A>T (p.Ile32918=)
c.80517A>T (p.Ile26839=)
c.70371A>T (p.Ile23457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527504T>CCA349399912TTN,TTN-AS1c.99918A>G (p.Ile33306Met)
c.81003A>G (p.Ile27001Met)
c.80802A>G (p.Ile26934Met)
c.80427A>G (p.Ile26809Met)
c.107622A>G (p.Ile35874Met)
c.102699A>G (p.Ile34233Met)
n.446+3868T>C
n.219+3868T>C
c.106719A>G (p.Ile35573Met)
c.80613A>G (p.Ile26871Met)
c.80472A>G (p.Ile26824Met)
c.106515A>G (p.Ile35505Met)
c.101913A>G (p.Ile33971Met)
c.101910A>G (p.Ile33970Met)
c.98952A>G (p.Ile32984Met)
c.80568A>G (p.Ile26856Met)
c.102063A>G (p.Ile34021Met)
c.102060A>G (p.Ile34020Met)
c.101493A>G (p.Ile33831Met)
c.98835A>G (p.Ile32945Met)
c.98754A>G (p.Ile32918Met)
c.80517A>G (p.Ile26839Met)
c.70371A>G (p.Ile23457Met)
2g.178527504T>GCA430234226TTN,TTN-AS1c.99918A>C (p.Ile33306=)
c.81003A>C (p.Ile27001=)
c.80802A>C (p.Ile26934=)
c.80427A>C (p.Ile26809=)
c.107622A>C (p.Ile35874=)
c.102699A>C (p.Ile34233=)
n.446+3868T>G
n.219+3868T>G
c.106719A>C (p.Ile35573=)
c.80613A>C (p.Ile26871=)
c.80472A>C (p.Ile26824=)
c.106515A>C (p.Ile35505=)
c.101913A>C (p.Ile33971=)
c.101910A>C (p.Ile33970=)
c.98952A>C (p.Ile32984=)
c.80568A>C (p.Ile26856=)
c.102063A>C (p.Ile34021=)
c.102060A>C (p.Ile34020=)
c.101493A>C (p.Ile33831=)
c.98835A>C (p.Ile32945=)
c.98754A>C (p.Ile32918=)
c.80517A>C (p.Ile26839=)
c.70371A>C (p.Ile23457=)
2g.178527504T=CA1310514499TTN,TTN-AS1c.99918A= (p.Ile33306=)
c.81003A= (p.Ile27001=)
c.80802A= (p.Ile26934=)
c.80427A= (p.Ile26809=)
c.107622A= (p.Ile35874=)
c.102699A= (p.Ile34233=)
n.446+3868T=
n.219+3868T=
c.106719A= (p.Ile35573=)
c.80613A= (p.Ile26871=)
c.80472A= (p.Ile26824=)
c.106515A= (p.Ile35505=)
c.101913A= (p.Ile33971=)
c.101910A= (p.Ile33970=)
c.98952A= (p.Ile32984=)
c.80568A= (p.Ile26856=)
c.102063A= (p.Ile34021=)
c.102060A= (p.Ile34020=)
c.101493A= (p.Ile33831=)
c.98835A= (p.Ile32945=)
c.98754A= (p.Ile32918=)
c.80517A= (p.Ile26839=)
c.70371A= (p.Ile23457=)
2g.178527505A=CA1310514500TTN,TTN-AS1c.99917T= (p.Ile33306=)
c.81002T= (p.Ile27001=)
c.80801T= (p.Ile26934=)
c.80426T= (p.Ile26809=)
c.107621T= (p.Ile35874=)
c.102698T= (p.Ile34233=)
n.446+3869A=
n.219+3869A=
c.106718T= (p.Ile35573=)
c.80612T= (p.Ile26871=)
c.80471T= (p.Ile26824=)
c.106514T= (p.Ile35505=)
c.101912T= (p.Ile33971=)
c.101909T= (p.Ile33970=)
c.98951T= (p.Ile32984=)
c.80567T= (p.Ile26856=)
c.102062T= (p.Ile34021=)
c.102059T= (p.Ile34020=)
c.101492T= (p.Ile33831=)
c.98834T= (p.Ile32945=)
c.98753T= (p.Ile32918=)
c.80516T= (p.Ile26839=)
c.70370T= (p.Ile23457=)
2g.178527505A>CCA349399915TTN,TTN-AS1c.99917T>G (p.Ile33306Arg)
c.81002T>G (p.Ile27001Arg)
c.80801T>G (p.Ile26934Arg)
c.80426T>G (p.Ile26809Arg)
c.107621T>G (p.Ile35874Arg)
c.102698T>G (p.Ile34233Arg)
n.446+3869A>C
n.219+3869A>C
c.106718T>G (p.Ile35573Arg)
c.80612T>G (p.Ile26871Arg)
c.80471T>G (p.Ile26824Arg)
c.106514T>G (p.Ile35505Arg)
c.101912T>G (p.Ile33971Arg)
c.101909T>G (p.Ile33970Arg)
c.98951T>G (p.Ile32984Arg)
c.80567T>G (p.Ile26856Arg)
c.102062T>G (p.Ile34021Arg)
c.102059T>G (p.Ile34020Arg)
c.101492T>G (p.Ile33831Arg)
c.98834T>G (p.Ile32945Arg)
c.98753T>G (p.Ile32918Arg)
c.80516T>G (p.Ile26839Arg)
c.70370T>G (p.Ile23457Arg)
2g.178527505A>GCA349399917TTN,TTN-AS1c.99917T>C (p.Ile33306Thr)
c.81002T>C (p.Ile27001Thr)
c.80801T>C (p.Ile26934Thr)
c.80426T>C (p.Ile26809Thr)
c.107621T>C (p.Ile35874Thr)
c.102698T>C (p.Ile34233Thr)
n.446+3869A>G
n.219+3869A>G
c.106718T>C (p.Ile35573Thr)
c.80612T>C (p.Ile26871Thr)
c.80471T>C (p.Ile26824Thr)
c.106514T>C (p.Ile35505Thr)
c.101912T>C (p.Ile33971Thr)
c.101909T>C (p.Ile33970Thr)
c.98951T>C (p.Ile32984Thr)
c.80567T>C (p.Ile26856Thr)
c.102062T>C (p.Ile34021Thr)
c.102059T>C (p.Ile34020Thr)
c.101492T>C (p.Ile33831Thr)
c.98834T>C (p.Ile32945Thr)
c.98753T>C (p.Ile32918Thr)
c.80516T>C (p.Ile26839Thr)
c.70370T>C (p.Ile23457Thr)
2g.178527505A>TCA349399914TTN,TTN-AS1c.99917T>A (p.Ile33306Lys)
c.81002T>A (p.Ile27001Lys)
c.80801T>A (p.Ile26934Lys)
c.80426T>A (p.Ile26809Lys)
c.107621T>A (p.Ile35874Lys)
c.102698T>A (p.Ile34233Lys)
n.446+3869A>T
n.219+3869A>T
c.106718T>A (p.Ile35573Lys)
c.80612T>A (p.Ile26871Lys)
c.80471T>A (p.Ile26824Lys)
c.106514T>A (p.Ile35505Lys)
c.101912T>A (p.Ile33971Lys)
c.101909T>A (p.Ile33970Lys)
c.98951T>A (p.Ile32984Lys)
c.80567T>A (p.Ile26856Lys)
c.102062T>A (p.Ile34021Lys)
c.102059T>A (p.Ile34020Lys)
c.101492T>A (p.Ile33831Lys)
c.98834T>A (p.Ile32945Lys)
c.98753T>A (p.Ile32918Lys)
c.80516T>A (p.Ile26839Lys)
c.70370T>A (p.Ile23457Lys)
 dbSNP
2g.178527506T>ACA349399919TTN,TTN-AS1c.99916A>T (p.Ile33306Leu)
c.81001A>T (p.Ile27001Leu)
c.80800A>T (p.Ile26934Leu)
c.80425A>T (p.Ile26809Leu)
c.107620A>T (p.Ile35874Leu)
c.102697A>T (p.Ile34233Leu)
n.446+3870T>A
n.219+3870T>A
c.106717A>T (p.Ile35573Leu)
c.80611A>T (p.Ile26871Leu)
c.80470A>T (p.Ile26824Leu)
c.106513A>T (p.Ile35505Leu)
c.101911A>T (p.Ile33971Leu)
c.101908A>T (p.Ile33970Leu)
c.98950A>T (p.Ile32984Leu)
c.80566A>T (p.Ile26856Leu)
c.102061A>T (p.Ile34021Leu)
c.102058A>T (p.Ile34020Leu)
c.101491A>T (p.Ile33831Leu)
c.98833A>T (p.Ile32945Leu)
c.98752A>T (p.Ile32918Leu)
c.80515A>T (p.Ile26839Leu)
c.70369A>T (p.Ile23457Leu)
2g.178527506T>CCA349399921TTN,TTN-AS1c.99916A>G (p.Ile33306Val)
c.81001A>G (p.Ile27001Val)
c.80800A>G (p.Ile26934Val)
c.80425A>G (p.Ile26809Val)
c.107620A>G (p.Ile35874Val)
c.102697A>G (p.Ile34233Val)
n.446+3870T>C
n.219+3870T>C
c.106717A>G (p.Ile35573Val)
c.80611A>G (p.Ile26871Val)
c.80470A>G (p.Ile26824Val)
c.106513A>G (p.Ile35505Val)
c.101911A>G (p.Ile33971Val)
c.101908A>G (p.Ile33970Val)
c.98950A>G (p.Ile32984Val)
c.80566A>G (p.Ile26856Val)
c.102061A>G (p.Ile34021Val)
c.102058A>G (p.Ile34020Val)
c.101491A>G (p.Ile33831Val)
c.98833A>G (p.Ile32945Val)
c.98752A>G (p.Ile32918Val)
c.80515A>G (p.Ile26839Val)
c.70369A>G (p.Ile23457Val)
 gnomAD v4
2g.178527506T>GCA349399922TTN,TTN-AS1c.99916A>C (p.Ile33306Leu)
c.81001A>C (p.Ile27001Leu)
c.80800A>C (p.Ile26934Leu)
c.80425A>C (p.Ile26809Leu)
c.107620A>C (p.Ile35874Leu)
c.102697A>C (p.Ile34233Leu)
n.446+3870T>G
n.219+3870T>G
c.106717A>C (p.Ile35573Leu)
c.80611A>C (p.Ile26871Leu)
c.80470A>C (p.Ile26824Leu)
c.106513A>C (p.Ile35505Leu)
c.101911A>C (p.Ile33971Leu)
c.101908A>C (p.Ile33970Leu)
c.98950A>C (p.Ile32984Leu)
c.80566A>C (p.Ile26856Leu)
c.102061A>C (p.Ile34021Leu)
c.102058A>C (p.Ile34020Leu)
c.101491A>C (p.Ile33831Leu)
c.98833A>C (p.Ile32945Leu)
c.98752A>C (p.Ile32918Leu)
c.80515A>C (p.Ile26839Leu)
c.70369A>C (p.Ile23457Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527506T=CA1310514501TTN,TTN-AS1c.99916A= (p.Ile33306=)
c.81001A= (p.Ile27001=)
c.80800A= (p.Ile26934=)
c.80425A= (p.Ile26809=)
c.107620A= (p.Ile35874=)
c.102697A= (p.Ile34233=)
n.446+3870T=
n.219+3870T=
c.106717A= (p.Ile35573=)
c.80611A= (p.Ile26871=)
c.80470A= (p.Ile26824=)
c.106513A= (p.Ile35505=)
c.101911A= (p.Ile33971=)
c.101908A= (p.Ile33970=)
c.98950A= (p.Ile32984=)
c.80566A= (p.Ile26856=)
c.102061A= (p.Ile34021=)
c.102058A= (p.Ile34020=)
c.101491A= (p.Ile33831=)
c.98833A= (p.Ile32945=)
c.98752A= (p.Ile32918=)
c.80515A= (p.Ile26839=)
c.70369A= (p.Ile23457=)
2g.178527507T>ACA430234233TTN,TTN-AS1c.99915A>T (p.Gly33305=)
c.81000A>T (p.Gly27000=)
c.80799A>T (p.Gly26933=)
c.80424A>T (p.Gly26808=)
c.107619A>T (p.Gly35873=)
c.102696A>T (p.Gly34232=)
n.446+3871T>A
n.219+3871T>A
c.106716A>T (p.Gly35572=)
c.80610A>T (p.Gly26870=)
c.80469A>T (p.Gly26823=)
c.106512A>T (p.Gly35504=)
c.101910A>T (p.Gly33970=)
c.101907A>T (p.Gly33969=)
c.98949A>T (p.Gly32983=)
c.80565A>T (p.Gly26855=)
c.102060A>T (p.Gly34020=)
c.102057A>T (p.Gly34019=)
c.101490A>T (p.Gly33830=)
c.98832A>T (p.Gly32944=)
c.98751A>T (p.Gly32917=)
c.80514A>T (p.Gly26838=)
c.70368A>T (p.Gly23456=)
 dbSNP gnomAD v2
2g.178527507T>CCA430234235TTN,TTN-AS1c.99915A>G (p.Gly33305=)
c.81000A>G (p.Gly27000=)
c.80799A>G (p.Gly26933=)
c.80424A>G (p.Gly26808=)
c.107619A>G (p.Gly35873=)
c.102696A>G (p.Gly34232=)
n.446+3871T>C
n.219+3871T>C
c.106716A>G (p.Gly35572=)
c.80610A>G (p.Gly26870=)
c.80469A>G (p.Gly26823=)
c.106512A>G (p.Gly35504=)
c.101910A>G (p.Gly33970=)
c.101907A>G (p.Gly33969=)
c.98949A>G (p.Gly32983=)
c.80565A>G (p.Gly26855=)
c.102060A>G (p.Gly34020=)
c.102057A>G (p.Gly34019=)
c.101490A>G (p.Gly33830=)
c.98832A>G (p.Gly32944=)
c.98751A>G (p.Gly32917=)
c.80514A>G (p.Gly26838=)
c.70368A>G (p.Gly23456=)
2g.178527507T>GCA430234237TTN,TTN-AS1c.99915A>C (p.Gly33305=)
c.81000A>C (p.Gly27000=)
c.80799A>C (p.Gly26933=)
c.80424A>C (p.Gly26808=)
c.107619A>C (p.Gly35873=)
c.102696A>C (p.Gly34232=)
n.446+3871T>G
n.219+3871T>G
c.106716A>C (p.Gly35572=)
c.80610A>C (p.Gly26870=)
c.80469A>C (p.Gly26823=)
c.106512A>C (p.Gly35504=)
c.101910A>C (p.Gly33970=)
c.101907A>C (p.Gly33969=)
c.98949A>C (p.Gly32983=)
c.80565A>C (p.Gly26855=)
c.102060A>C (p.Gly34020=)
c.102057A>C (p.Gly34019=)
c.101490A>C (p.Gly33830=)
c.98832A>C (p.Gly32944=)
c.98751A>C (p.Gly32917=)
c.80514A>C (p.Gly26838=)
c.70368A>C (p.Gly23456=)
2g.178527507T=CA1310514502TTN,TTN-AS1c.99915A= (p.Gly33305=)
c.81000A= (p.Gly27000=)
c.80799A= (p.Gly26933=)
c.80424A= (p.Gly26808=)
c.107619A= (p.Gly35873=)
c.102696A= (p.Gly34232=)
n.446+3871T=
n.219+3871T=
c.106716A= (p.Gly35572=)
c.80610A= (p.Gly26870=)
c.80469A= (p.Gly26823=)
c.106512A= (p.Gly35504=)
c.101910A= (p.Gly33970=)
c.101907A= (p.Gly33969=)
c.98949A= (p.Gly32983=)
c.80565A= (p.Gly26855=)
c.102060A= (p.Gly34020=)
c.102057A= (p.Gly34019=)
c.101490A= (p.Gly33830=)
c.98832A= (p.Gly32944=)
c.98751A= (p.Gly32917=)
c.80514A= (p.Gly26838=)
c.70368A= (p.Gly23456=)
2g.178527508C>ACA349399924TTN,TTN-AS1c.99914G>T (p.Gly33305Val)
c.80999G>T (p.Gly27000Val)
c.80798G>T (p.Gly26933Val)
c.80423G>T (p.Gly26808Val)
c.107618G>T (p.Gly35873Val)
c.102695G>T (p.Gly34232Val)
n.446+3872C>A
n.219+3872C>A
c.106715G>T (p.Gly35572Val)
c.80609G>T (p.Gly26870Val)
c.80468G>T (p.Gly26823Val)
c.106511G>T (p.Gly35504Val)
c.101909G>T (p.Gly33970Val)
c.101906G>T (p.Gly33969Val)
c.98948G>T (p.Gly32983Val)
c.80564G>T (p.Gly26855Val)
c.102059G>T (p.Gly34020Val)
c.102056G>T (p.Gly34019Val)
c.101489G>T (p.Gly33830Val)
c.98831G>T (p.Gly32944Val)
c.98750G>T (p.Gly32917Val)
c.80513G>T (p.Gly26838Val)
c.70367G>T (p.Gly23456Val)
2g.178527508C=CA1310514503TTN,TTN-AS1c.99914G= (p.Gly33305=)
c.80999G= (p.Gly27000=)
c.80798G= (p.Gly26933=)
c.80423G= (p.Gly26808=)
c.107618G= (p.Gly35873=)
c.102695G= (p.Gly34232=)
n.446+3872C=
n.219+3872C=
c.106715G= (p.Gly35572=)
c.80609G= (p.Gly26870=)
c.80468G= (p.Gly26823=)
c.106511G= (p.Gly35504=)
c.101909G= (p.Gly33970=)
c.101906G= (p.Gly33969=)
c.98948G= (p.Gly32983=)
c.80564G= (p.Gly26855=)
c.102059G= (p.Gly34020=)
c.102056G= (p.Gly34019=)
c.101489G= (p.Gly33830=)
c.98831G= (p.Gly32944=)
c.98750G= (p.Gly32917=)
c.80513G= (p.Gly26838=)
c.70367G= (p.Gly23456=)
2g.178527508C>GCA349399925TTN,TTN-AS1c.99914G>C (p.Gly33305Ala)
c.80999G>C (p.Gly27000Ala)
c.80798G>C (p.Gly26933Ala)
c.80423G>C (p.Gly26808Ala)
c.107618G>C (p.Gly35873Ala)
c.102695G>C (p.Gly34232Ala)
n.446+3872C>G
n.219+3872C>G
c.106715G>C (p.Gly35572Ala)
c.80609G>C (p.Gly26870Ala)
c.80468G>C (p.Gly26823Ala)
c.106511G>C (p.Gly35504Ala)
c.101909G>C (p.Gly33970Ala)
c.101906G>C (p.Gly33969Ala)
c.98948G>C (p.Gly32983Ala)
c.80564G>C (p.Gly26855Ala)
c.102059G>C (p.Gly34020Ala)
c.102056G>C (p.Gly34019Ala)
c.101489G>C (p.Gly33830Ala)
c.98831G>C (p.Gly32944Ala)
c.98750G>C (p.Gly32917Ala)
c.80513G>C (p.Gly26838Ala)
c.70367G>C (p.Gly23456Ala)
2g.178527508C>TCA1984921TTN,TTN-AS1c.99914G>A (p.Gly33305Glu)
c.80999G>A (p.Gly27000Glu)
c.80798G>A (p.Gly26933Glu)
c.80423G>A (p.Gly26808Glu)
c.107618G>A (p.Gly35873Glu)
c.102695G>A (p.Gly34232Glu)
n.446+3872C>T
n.219+3872C>T
c.106715G>A (p.Gly35572Glu)
c.80609G>A (p.Gly26870Glu)
c.80468G>A (p.Gly26823Glu)
c.106511G>A (p.Gly35504Glu)
c.101909G>A (p.Gly33970Glu)
c.101906G>A (p.Gly33969Glu)
c.98948G>A (p.Gly32983Glu)
c.80564G>A (p.Gly26855Glu)
c.102059G>A (p.Gly34020Glu)
c.102056G>A (p.Gly34019Glu)
c.101489G>A (p.Gly33830Glu)
c.98831G>A (p.Gly32944Glu)
c.98750G>A (p.Gly32917Glu)
c.80513G>A (p.Gly26838Glu)
c.70367G>A (p.Gly23456Glu)
 dbSNP ExAC gnomAD v2
2g.178527509C>ACA349399928TTN,TTN-AS1c.99913G>T (p.Gly33305Ter)
c.80998G>T (p.Gly27000Ter)
c.80797G>T (p.Gly26933Ter)
c.80422G>T (p.Gly26808Ter)
c.107617G>T (p.Gly35873Ter)
c.102694G>T (p.Gly34232Ter)
n.446+3873C>A
n.219+3873C>A
c.106714G>T (p.Gly35572Ter)
c.80608G>T (p.Gly26870Ter)
c.80467G>T (p.Gly26823Ter)
c.106510G>T (p.Gly35504Ter)
c.101908G>T (p.Gly33970Ter)
c.101905G>T (p.Gly33969Ter)
c.98947G>T (p.Gly32983Ter)
c.80563G>T (p.Gly26855Ter)
c.102058G>T (p.Gly34020Ter)
c.102055G>T (p.Gly34019Ter)
c.101488G>T (p.Gly33830Ter)
c.98830G>T (p.Gly32944Ter)
c.98749G>T (p.Gly32917Ter)
c.80512G>T (p.Gly26838Ter)
c.70366G>T (p.Gly23456Ter)
 ClinVar
2g.178527509C=CA1310514504TTN,TTN-AS1c.99913G= (p.Gly33305=)
c.80998G= (p.Gly27000=)
c.80797G= (p.Gly26933=)
c.80422G= (p.Gly26808=)
c.107617G= (p.Gly35873=)
c.102694G= (p.Gly34232=)
n.446+3873C=
n.219+3873C=
c.106714G= (p.Gly35572=)
c.80608G= (p.Gly26870=)
c.80467G= (p.Gly26823=)
c.106510G= (p.Gly35504=)
c.101908G= (p.Gly33970=)
c.101905G= (p.Gly33969=)
c.98947G= (p.Gly32983=)
c.80563G= (p.Gly26855=)
c.102058G= (p.Gly34020=)
c.102055G= (p.Gly34019=)
c.101488G= (p.Gly33830=)
c.98830G= (p.Gly32944=)
c.98749G= (p.Gly32917=)
c.80512G= (p.Gly26838=)
c.70366G= (p.Gly23456=)
2g.178527509C>GCA1984922TTN,TTN-AS1c.99913G>C (p.Gly33305Arg)
c.80998G>C (p.Gly27000Arg)
c.80797G>C (p.Gly26933Arg)
c.80422G>C (p.Gly26808Arg)
c.107617G>C (p.Gly35873Arg)
c.102694G>C (p.Gly34232Arg)
n.446+3873C>G
n.219+3873C>G
c.106714G>C (p.Gly35572Arg)
c.80608G>C (p.Gly26870Arg)
c.80467G>C (p.Gly26823Arg)
c.106510G>C (p.Gly35504Arg)
c.101908G>C (p.Gly33970Arg)
c.101905G>C (p.Gly33969Arg)
c.98947G>C (p.Gly32983Arg)
c.80563G>C (p.Gly26855Arg)
c.102058G>C (p.Gly34020Arg)
c.102055G>C (p.Gly34019Arg)
c.101488G>C (p.Gly33830Arg)
c.98830G>C (p.Gly32944Arg)
c.98749G>C (p.Gly32917Arg)
c.80512G>C (p.Gly26838Arg)
c.70366G>C (p.Gly23456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527509C>TCA1984923TTN,TTN-AS1c.99913G>A (p.Gly33305Arg)
c.80998G>A (p.Gly27000Arg)
c.80797G>A (p.Gly26933Arg)
c.80422G>A (p.Gly26808Arg)
c.107617G>A (p.Gly35873Arg)
c.102694G>A (p.Gly34232Arg)
n.446+3873C>T
n.219+3873C>T
c.106714G>A (p.Gly35572Arg)
c.80608G>A (p.Gly26870Arg)
c.80467G>A (p.Gly26823Arg)
c.106510G>A (p.Gly35504Arg)
c.101908G>A (p.Gly33970Arg)
c.101905G>A (p.Gly33969Arg)
c.98947G>A (p.Gly32983Arg)
c.80563G>A (p.Gly26855Arg)
c.102058G>A (p.Gly34020Arg)
c.102055G>A (p.Gly34019Arg)
c.101488G>A (p.Gly33830Arg)
c.98830G>A (p.Gly32944Arg)
c.98749G>A (p.Gly32917Arg)
c.80512G>A (p.Gly26838Arg)
c.70366G>A (p.Gly23456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527510C>ACA349399931TTN,TTN-AS1c.99912G>T (p.Met33304Ile)
c.80997G>T (p.Met26999Ile)
c.80796G>T (p.Met26932Ile)
c.80421G>T (p.Met26807Ile)
c.107616G>T (p.Met35872Ile)
c.102693G>T (p.Met34231Ile)
n.446+3874C>A
n.219+3874C>A
c.106713G>T (p.Met35571Ile)
c.80607G>T (p.Met26869Ile)
c.80466G>T (p.Met26822Ile)
c.106509G>T (p.Met35503Ile)
c.101907G>T (p.Met33969Ile)
c.101904G>T (p.Met33968Ile)
c.98946G>T (p.Met32982Ile)
c.80562G>T (p.Met26854Ile)
c.102057G>T (p.Met34019Ile)
c.102054G>T (p.Met34018Ile)
c.101487G>T (p.Met33829Ile)
c.98829G>T (p.Met32943Ile)
c.98748G>T (p.Met32916Ile)
c.80511G>T (p.Met26837Ile)
c.70365G>T (p.Met23455Ile)
2g.178527510C>GCA349399933TTN,TTN-AS1c.99912G>C (p.Met33304Ile)
c.80997G>C (p.Met26999Ile)
c.80796G>C (p.Met26932Ile)
c.80421G>C (p.Met26807Ile)
c.107616G>C (p.Met35872Ile)
c.102693G>C (p.Met34231Ile)
n.446+3874C>G
n.219+3874C>G
c.106713G>C (p.Met35571Ile)
c.80607G>C (p.Met26869Ile)
c.80466G>C (p.Met26822Ile)
c.106509G>C (p.Met35503Ile)
c.101907G>C (p.Met33969Ile)
c.101904G>C (p.Met33968Ile)
c.98946G>C (p.Met32982Ile)
c.80562G>C (p.Met26854Ile)
c.102057G>C (p.Met34019Ile)
c.102054G>C (p.Met34018Ile)
c.101487G>C (p.Met33829Ile)
c.98829G>C (p.Met32943Ile)
c.98748G>C (p.Met32916Ile)
c.80511G>C (p.Met26837Ile)
c.70365G>C (p.Met23455Ile)
2g.178527510C>TCA349399934TTN,TTN-AS1c.99912G>A (p.Met33304Ile)
c.80997G>A (p.Met26999Ile)
c.80796G>A (p.Met26932Ile)
c.80421G>A (p.Met26807Ile)
c.107616G>A (p.Met35872Ile)
c.102693G>A (p.Met34231Ile)
n.446+3874C>T
n.219+3874C>T
c.106713G>A (p.Met35571Ile)
c.80607G>A (p.Met26869Ile)
c.80466G>A (p.Met26822Ile)
c.106509G>A (p.Met35503Ile)
c.101907G>A (p.Met33969Ile)
c.101904G>A (p.Met33968Ile)
c.98946G>A (p.Met32982Ile)
c.80562G>A (p.Met26854Ile)
c.102057G>A (p.Met34019Ile)
c.102054G>A (p.Met34018Ile)
c.101487G>A (p.Met33829Ile)
c.98829G>A (p.Met32943Ile)
c.98748G>A (p.Met32916Ile)
c.80511G>A (p.Met26837Ile)
c.70365G>A (p.Met23455Ile)
2g.178527511A>CCA349399937TTN,TTN-AS1c.99911T>G (p.Met33304Arg)
c.80996T>G (p.Met26999Arg)
c.80795T>G (p.Met26932Arg)
c.80420T>G (p.Met26807Arg)
c.107615T>G (p.Met35872Arg)
c.102692T>G (p.Met34231Arg)
n.446+3875A>C
n.219+3875A>C
c.106712T>G (p.Met35571Arg)
c.80606T>G (p.Met26869Arg)
c.80465T>G (p.Met26822Arg)
c.106508T>G (p.Met35503Arg)
c.101906T>G (p.Met33969Arg)
c.101903T>G (p.Met33968Arg)
c.98945T>G (p.Met32982Arg)
c.80561T>G (p.Met26854Arg)
c.102056T>G (p.Met34019Arg)
c.102053T>G (p.Met34018Arg)
c.101486T>G (p.Met33829Arg)
c.98828T>G (p.Met32943Arg)
c.98747T>G (p.Met32916Arg)
c.80510T>G (p.Met26837Arg)
c.70364T>G (p.Met23455Arg)
2g.178527511A>GCA349399936TTN,TTN-AS1c.99911T>C (p.Met33304Thr)
c.80996T>C (p.Met26999Thr)
c.80795T>C (p.Met26932Thr)
c.80420T>C (p.Met26807Thr)
c.107615T>C (p.Met35872Thr)
c.102692T>C (p.Met34231Thr)
n.446+3875A>G
n.219+3875A>G
c.106712T>C (p.Met35571Thr)
c.80606T>C (p.Met26869Thr)
c.80465T>C (p.Met26822Thr)
c.106508T>C (p.Met35503Thr)
c.101906T>C (p.Met33969Thr)
c.101903T>C (p.Met33968Thr)
c.98945T>C (p.Met32982Thr)
c.80561T>C (p.Met26854Thr)
c.102056T>C (p.Met34019Thr)
c.102053T>C (p.Met34018Thr)
c.101486T>C (p.Met33829Thr)
c.98828T>C (p.Met32943Thr)
c.98747T>C (p.Met32916Thr)
c.80510T>C (p.Met26837Thr)
c.70364T>C (p.Met23455Thr)
 dbSNP gnomAD v4
2g.178527511A>TCA349399935TTN,TTN-AS1c.99911T>A (p.Met33304Lys)
c.80996T>A (p.Met26999Lys)
c.80795T>A (p.Met26932Lys)
c.80420T>A (p.Met26807Lys)
c.107615T>A (p.Met35872Lys)
c.102692T>A (p.Met34231Lys)
n.446+3875A>T
n.219+3875A>T
c.106712T>A (p.Met35571Lys)
c.80606T>A (p.Met26869Lys)
c.80465T>A (p.Met26822Lys)
c.106508T>A (p.Met35503Lys)
c.101906T>A (p.Met33969Lys)
c.101903T>A (p.Met33968Lys)
c.98945T>A (p.Met32982Lys)
c.80561T>A (p.Met26854Lys)
c.102056T>A (p.Met34019Lys)
c.102053T>A (p.Met34018Lys)
c.101486T>A (p.Met33829Lys)
c.98828T>A (p.Met32943Lys)
c.98747T>A (p.Met32916Lys)
c.80510T>A (p.Met26837Lys)
c.70364T>A (p.Met23455Lys)
2g.178527512T>ACA349399938TTN,TTN-AS1c.99910A>T (p.Met33304Leu)
c.80995A>T (p.Met26999Leu)
c.80794A>T (p.Met26932Leu)
c.80419A>T (p.Met26807Leu)
c.107614A>T (p.Met35872Leu)
c.102691A>T (p.Met34231Leu)
n.446+3876T>A
n.219+3876T>A
c.106711A>T (p.Met35571Leu)
c.80605A>T (p.Met26869Leu)
c.80464A>T (p.Met26822Leu)
c.106507A>T (p.Met35503Leu)
c.101905A>T (p.Met33969Leu)
c.101902A>T (p.Met33968Leu)
c.98944A>T (p.Met32982Leu)
c.80560A>T (p.Met26854Leu)
c.102055A>T (p.Met34019Leu)
c.102052A>T (p.Met34018Leu)
c.101485A>T (p.Met33829Leu)
c.98827A>T (p.Met32943Leu)
c.98746A>T (p.Met32916Leu)
c.80509A>T (p.Met26837Leu)
c.70363A>T (p.Met23455Leu)
2g.178527512T>CCA1984924TTN,TTN-AS1c.99910A>G (p.Met33304Val)
c.80995A>G (p.Met26999Val)
c.80794A>G (p.Met26932Val)
c.80419A>G (p.Met26807Val)
c.107614A>G (p.Met35872Val)
c.102691A>G (p.Met34231Val)
n.446+3876T>C
n.219+3876T>C
c.106711A>G (p.Met35571Val)
c.80605A>G (p.Met26869Val)
c.80464A>G (p.Met26822Val)
c.106507A>G (p.Met35503Val)
c.101905A>G (p.Met33969Val)
c.101902A>G (p.Met33968Val)
c.98944A>G (p.Met32982Val)
c.80560A>G (p.Met26854Val)
c.102055A>G (p.Met34019Val)
c.102052A>G (p.Met34018Val)
c.101485A>G (p.Met33829Val)
c.98827A>G (p.Met32943Val)
c.98746A>G (p.Met32916Val)
c.80509A>G (p.Met26837Val)
c.70363A>G (p.Met23455Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527512T>GCA349399940TTN,TTN-AS1c.99910A>C (p.Met33304Leu)
c.80995A>C (p.Met26999Leu)
c.80794A>C (p.Met26932Leu)
c.80419A>C (p.Met26807Leu)
c.107614A>C (p.Met35872Leu)
c.102691A>C (p.Met34231Leu)
n.446+3876T>G
n.219+3876T>G
c.106711A>C (p.Met35571Leu)
c.80605A>C (p.Met26869Leu)
c.80464A>C (p.Met26822Leu)
c.106507A>C (p.Met35503Leu)
c.101905A>C (p.Met33969Leu)
c.101902A>C (p.Met33968Leu)
c.98944A>C (p.Met32982Leu)
c.80560A>C (p.Met26854Leu)
c.102055A>C (p.Met34019Leu)
c.102052A>C (p.Met34018Leu)
c.101485A>C (p.Met33829Leu)
c.98827A>C (p.Met32943Leu)
c.98746A>C (p.Met32916Leu)
c.80509A>C (p.Met26837Leu)
c.70363A>C (p.Met23455Leu)
2g.178527512T=CA1310508145TTN,TTN-AS1c.99910A= (p.Met33304=)
c.80995A= (p.Met26999=)
c.80794A= (p.Met26932=)
c.80419A= (p.Met26807=)
c.107614A= (p.Met35872=)
c.102691A= (p.Met34231=)
n.446+3876T=
n.219+3876T=
c.106711A= (p.Met35571=)
c.80605A= (p.Met26869=)
c.80464A= (p.Met26822=)
c.106507A= (p.Met35503=)
c.101905A= (p.Met33969=)
c.101902A= (p.Met33968=)
c.98944A= (p.Met32982=)
c.80560A= (p.Met26854=)
c.102055A= (p.Met34019=)
c.102052A= (p.Met34018=)
c.101485A= (p.Met33829=)
c.98827A= (p.Met32943=)
c.98746A= (p.Met32916=)
c.80509A= (p.Met26837=)
c.70363A= (p.Met23455=)
2g.178527513A>CCA349399942TTN,TTN-AS1c.99909T>G (p.Phe33303Leu)
c.80994T>G (p.Phe26998Leu)
c.80793T>G (p.Phe26931Leu)
c.80418T>G (p.Phe26806Leu)
c.107613T>G (p.Phe35871Leu)
c.102690T>G (p.Phe34230Leu)
n.446+3877A>C
n.219+3877A>C
c.106710T>G (p.Phe35570Leu)
c.80604T>G (p.Phe26868Leu)
c.80463T>G (p.Phe26821Leu)
c.106506T>G (p.Phe35502Leu)
c.101904T>G (p.Phe33968Leu)
c.101901T>G (p.Phe33967Leu)
c.98943T>G (p.Phe32981Leu)
c.80559T>G (p.Phe26853Leu)
c.102054T>G (p.Phe34018Leu)
c.102051T>G (p.Phe34017Leu)
c.101484T>G (p.Phe33828Leu)
c.98826T>G (p.Phe32942Leu)
c.98745T>G (p.Phe32915Leu)
c.80508T>G (p.Phe26836Leu)
c.70362T>G (p.Phe23454Leu)
2g.178527513A>GCA430234248TTN,TTN-AS1c.99909T>C (p.Phe33303=)
c.80994T>C (p.Phe26998=)
c.80793T>C (p.Phe26931=)
c.80418T>C (p.Phe26806=)
c.107613T>C (p.Phe35871=)
c.102690T>C (p.Phe34230=)
n.446+3877A>G
n.219+3877A>G
c.106710T>C (p.Phe35570=)
c.80604T>C (p.Phe26868=)
c.80463T>C (p.Phe26821=)
c.106506T>C (p.Phe35502=)
c.101904T>C (p.Phe33968=)
c.101901T>C (p.Phe33967=)
c.98943T>C (p.Phe32981=)
c.80559T>C (p.Phe26853=)
c.102054T>C (p.Phe34018=)
c.102051T>C (p.Phe34017=)
c.101484T>C (p.Phe33828=)
c.98826T>C (p.Phe32942=)
c.98745T>C (p.Phe32915=)
c.80508T>C (p.Phe26836=)
c.70362T>C (p.Phe23454=)
2g.178527513A>TCA349399944TTN,TTN-AS1c.99909T>A (p.Phe33303Leu)
c.80994T>A (p.Phe26998Leu)
c.80793T>A (p.Phe26931Leu)
c.80418T>A (p.Phe26806Leu)
c.107613T>A (p.Phe35871Leu)
c.102690T>A (p.Phe34230Leu)
n.446+3877A>T
n.219+3877A>T
c.106710T>A (p.Phe35570Leu)
c.80604T>A (p.Phe26868Leu)
c.80463T>A (p.Phe26821Leu)
c.106506T>A (p.Phe35502Leu)
c.101904T>A (p.Phe33968Leu)
c.101901T>A (p.Phe33967Leu)
c.98943T>A (p.Phe32981Leu)
c.80559T>A (p.Phe26853Leu)
c.102054T>A (p.Phe34018Leu)
c.102051T>A (p.Phe34017Leu)
c.101484T>A (p.Phe33828Leu)
c.98826T>A (p.Phe32942Leu)
c.98745T>A (p.Phe32915Leu)
c.80508T>A (p.Phe26836Leu)
c.70362T>A (p.Phe23454Leu)
2g.178527514A>CCA349399946TTN,TTN-AS1c.99908T>G (p.Phe33303Cys)
c.80993T>G (p.Phe26998Cys)
c.80792T>G (p.Phe26931Cys)
c.80417T>G (p.Phe26806Cys)
c.107612T>G (p.Phe35871Cys)
c.102689T>G (p.Phe34230Cys)
n.446+3878A>C
n.219+3878A>C
c.106709T>G (p.Phe35570Cys)
c.80603T>G (p.Phe26868Cys)
c.80462T>G (p.Phe26821Cys)
c.106505T>G (p.Phe35502Cys)
c.101903T>G (p.Phe33968Cys)
c.101900T>G (p.Phe33967Cys)
c.98942T>G (p.Phe32981Cys)
c.80558T>G (p.Phe26853Cys)
c.102053T>G (p.Phe34018Cys)
c.102050T>G (p.Phe34017Cys)
c.101483T>G (p.Phe33828Cys)
c.98825T>G (p.Phe32942Cys)
c.98744T>G (p.Phe32915Cys)
c.80507T>G (p.Phe26836Cys)
c.70361T>G (p.Phe23454Cys)
2g.178527514A>GCA349399948TTN,TTN-AS1c.99908T>C (p.Phe33303Ser)
c.80993T>C (p.Phe26998Ser)
c.80792T>C (p.Phe26931Ser)
c.80417T>C (p.Phe26806Ser)
c.107612T>C (p.Phe35871Ser)
c.102689T>C (p.Phe34230Ser)
n.446+3878A>G
n.219+3878A>G
c.106709T>C (p.Phe35570Ser)
c.80603T>C (p.Phe26868Ser)
c.80462T>C (p.Phe26821Ser)
c.106505T>C (p.Phe35502Ser)
c.101903T>C (p.Phe33968Ser)
c.101900T>C (p.Phe33967Ser)
c.98942T>C (p.Phe32981Ser)
c.80558T>C (p.Phe26853Ser)
c.102053T>C (p.Phe34018Ser)
c.102050T>C (p.Phe34017Ser)
c.101483T>C (p.Phe33828Ser)
c.98825T>C (p.Phe32942Ser)
c.98744T>C (p.Phe32915Ser)
c.80507T>C (p.Phe26836Ser)
c.70361T>C (p.Phe23454Ser)
2g.178527514A>TCA349399949TTN,TTN-AS1c.99908T>A (p.Phe33303Tyr)
c.80993T>A (p.Phe26998Tyr)
c.80792T>A (p.Phe26931Tyr)
c.80417T>A (p.Phe26806Tyr)
c.107612T>A (p.Phe35871Tyr)
c.102689T>A (p.Phe34230Tyr)
n.446+3878A>T
n.219+3878A>T
c.106709T>A (p.Phe35570Tyr)
c.80603T>A (p.Phe26868Tyr)
c.80462T>A (p.Phe26821Tyr)
c.106505T>A (p.Phe35502Tyr)
c.101903T>A (p.Phe33968Tyr)
c.101900T>A (p.Phe33967Tyr)
c.98942T>A (p.Phe32981Tyr)
c.80558T>A (p.Phe26853Tyr)
c.102053T>A (p.Phe34018Tyr)
c.102050T>A (p.Phe34017Tyr)
c.101483T>A (p.Phe33828Tyr)
c.98825T>A (p.Phe32942Tyr)
c.98744T>A (p.Phe32915Tyr)
c.80507T>A (p.Phe26836Tyr)
c.70361T>A (p.Phe23454Tyr)
2g.178527515A>CCA349399951TTN,TTN-AS1c.99907T>G (p.Phe33303Val)
c.80992T>G (p.Phe26998Val)
c.80791T>G (p.Phe26931Val)
c.80416T>G (p.Phe26806Val)
c.107611T>G (p.Phe35871Val)
c.102688T>G (p.Phe34230Val)
n.446+3879A>C
n.219+3879A>C
c.106708T>G (p.Phe35570Val)
c.80602T>G (p.Phe26868Val)
c.80461T>G (p.Phe26821Val)
c.106504T>G (p.Phe35502Val)
c.101902T>G (p.Phe33968Val)
c.101899T>G (p.Phe33967Val)
c.98941T>G (p.Phe32981Val)
c.80557T>G (p.Phe26853Val)
c.102052T>G (p.Phe34018Val)
c.102049T>G (p.Phe34017Val)
c.101482T>G (p.Phe33828Val)
c.98824T>G (p.Phe32942Val)
c.98743T>G (p.Phe32915Val)
c.80506T>G (p.Phe26836Val)
c.70360T>G (p.Phe23454Val)
2g.178527515A>GCA349399952TTN,TTN-AS1c.99907T>C (p.Phe33303Leu)
c.80992T>C (p.Phe26998Leu)
c.80791T>C (p.Phe26931Leu)
c.80416T>C (p.Phe26806Leu)
c.107611T>C (p.Phe35871Leu)
c.102688T>C (p.Phe34230Leu)
n.446+3879A>G
n.219+3879A>G
c.106708T>C (p.Phe35570Leu)
c.80602T>C (p.Phe26868Leu)
c.80461T>C (p.Phe26821Leu)
c.106504T>C (p.Phe35502Leu)
c.101902T>C (p.Phe33968Leu)
c.101899T>C (p.Phe33967Leu)
c.98941T>C (p.Phe32981Leu)
c.80557T>C (p.Phe26853Leu)
c.102052T>C (p.Phe34018Leu)
c.102049T>C (p.Phe34017Leu)
c.101482T>C (p.Phe33828Leu)
c.98824T>C (p.Phe32942Leu)
c.98743T>C (p.Phe32915Leu)
c.80506T>C (p.Phe26836Leu)
c.70360T>C (p.Phe23454Leu)
2g.178527515A>TCA349399954TTN,TTN-AS1c.99907T>A (p.Phe33303Ile)
c.80992T>A (p.Phe26998Ile)
c.80791T>A (p.Phe26931Ile)
c.80416T>A (p.Phe26806Ile)
c.107611T>A (p.Phe35871Ile)
c.102688T>A (p.Phe34230Ile)
n.446+3879A>T
n.219+3879A>T
c.106708T>A (p.Phe35570Ile)
c.80602T>A (p.Phe26868Ile)
c.80461T>A (p.Phe26821Ile)
c.106504T>A (p.Phe35502Ile)
c.101902T>A (p.Phe33968Ile)
c.101899T>A (p.Phe33967Ile)
c.98941T>A (p.Phe32981Ile)
c.80557T>A (p.Phe26853Ile)
c.102052T>A (p.Phe34018Ile)
c.102049T>A (p.Phe34017Ile)
c.101482T>A (p.Phe33828Ile)
c.98824T>A (p.Phe32942Ile)
c.98743T>A (p.Phe32915Ile)
c.80506T>A (p.Phe26836Ile)
c.70360T>A (p.Phe23454Ile)
2g.178527516G>ACA430234253TTN,TTN-AS1c.99906C>T (p.Ser33302=)
c.80991C>T (p.Ser26997=)
c.80790C>T (p.Ser26930=)
c.80415C>T (p.Ser26805=)
c.107610C>T (p.Ser35870=)
c.102687C>T (p.Ser34229=)
n.446+3880G>A
n.219+3880G>A
c.106707C>T (p.Ser35569=)
c.80601C>T (p.Ser26867=)
c.80460C>T (p.Ser26820=)
c.106503C>T (p.Ser35501=)
c.101901C>T (p.Ser33967=)
c.101898C>T (p.Ser33966=)
c.98940C>T (p.Ser32980=)
c.80556C>T (p.Ser26852=)
c.102051C>T (p.Ser34017=)
c.102048C>T (p.Ser34016=)
c.101481C>T (p.Ser33827=)
c.98823C>T (p.Ser32941=)
c.98742C>T (p.Ser32914=)
c.80505C>T (p.Ser26835=)
c.70359C>T (p.Ser23453=)
 dbSNP
2g.178527516G>CCA349399956TTN,TTN-AS1c.99906C>G (p.Ser33302Arg)
c.80991C>G (p.Ser26997Arg)
c.80790C>G (p.Ser26930Arg)
c.80415C>G (p.Ser26805Arg)
c.107610C>G (p.Ser35870Arg)
c.102687C>G (p.Ser34229Arg)
n.446+3880G>C
n.219+3880G>C
c.106707C>G (p.Ser35569Arg)
c.80601C>G (p.Ser26867Arg)
c.80460C>G (p.Ser26820Arg)
c.106503C>G (p.Ser35501Arg)
c.101901C>G (p.Ser33967Arg)
c.101898C>G (p.Ser33966Arg)
c.98940C>G (p.Ser32980Arg)
c.80556C>G (p.Ser26852Arg)
c.102051C>G (p.Ser34017Arg)
c.102048C>G (p.Ser34016Arg)
c.101481C>G (p.Ser33827Arg)
c.98823C>G (p.Ser32941Arg)
c.98742C>G (p.Ser32914Arg)
c.80505C>G (p.Ser26835Arg)
c.70359C>G (p.Ser23453Arg)
2g.178527516G=CA1310508149TTN,TTN-AS1c.99906C= (p.Ser33302=)
c.80991C= (p.Ser26997=)
c.80790C= (p.Ser26930=)
c.80415C= (p.Ser26805=)
c.107610C= (p.Ser35870=)
c.102687C= (p.Ser34229=)
n.446+3880G=
n.219+3880G=
c.106707C= (p.Ser35569=)
c.80601C= (p.Ser26867=)
c.80460C= (p.Ser26820=)
c.106503C= (p.Ser35501=)
c.101901C= (p.Ser33967=)
c.101898C= (p.Ser33966=)
c.98940C= (p.Ser32980=)
c.80556C= (p.Ser26852=)
c.102051C= (p.Ser34017=)
c.102048C= (p.Ser34016=)
c.101481C= (p.Ser33827=)
c.98823C= (p.Ser32941=)
c.98742C= (p.Ser32914=)
c.80505C= (p.Ser26835=)
c.70359C= (p.Ser23453=)
2g.178527516G>TCA349399957TTN,TTN-AS1c.99906C>A (p.Ser33302Arg)
c.80991C>A (p.Ser26997Arg)
c.80790C>A (p.Ser26930Arg)
c.80415C>A (p.Ser26805Arg)
c.107610C>A (p.Ser35870Arg)
c.102687C>A (p.Ser34229Arg)
n.446+3880G>T
n.219+3880G>T
c.106707C>A (p.Ser35569Arg)
c.80601C>A (p.Ser26867Arg)
c.80460C>A (p.Ser26820Arg)
c.106503C>A (p.Ser35501Arg)
c.101901C>A (p.Ser33967Arg)
c.101898C>A (p.Ser33966Arg)
c.98940C>A (p.Ser32980Arg)
c.80556C>A (p.Ser26852Arg)
c.102051C>A (p.Ser34017Arg)
c.102048C>A (p.Ser34016Arg)
c.101481C>A (p.Ser33827Arg)
c.98823C>A (p.Ser32941Arg)
c.98742C>A (p.Ser32914Arg)
c.80505C>A (p.Ser26835Arg)
c.70359C>A (p.Ser23453Arg)
2g.178527517C>ACA349399961TTN,TTN-AS1c.99905G>T (p.Ser33302Ile)
c.80990G>T (p.Ser26997Ile)
c.80789G>T (p.Ser26930Ile)
c.80414G>T (p.Ser26805Ile)
c.107609G>T (p.Ser35870Ile)
c.102686G>T (p.Ser34229Ile)
n.446+3881C>A
n.219+3881C>A
c.106706G>T (p.Ser35569Ile)
c.80600G>T (p.Ser26867Ile)
c.80459G>T (p.Ser26820Ile)
c.106502G>T (p.Ser35501Ile)
c.101900G>T (p.Ser33967Ile)
c.101897G>T (p.Ser33966Ile)
c.98939G>T (p.Ser32980Ile)
c.80555G>T (p.Ser26852Ile)
c.102050G>T (p.Ser34017Ile)
c.102047G>T (p.Ser34016Ile)
c.101480G>T (p.Ser33827Ile)
c.98822G>T (p.Ser32941Ile)
c.98741G>T (p.Ser32914Ile)
c.80504G>T (p.Ser26835Ile)
c.70358G>T (p.Ser23453Ile)
2g.178527517C>GCA349399963TTN,TTN-AS1c.99905G>C (p.Ser33302Thr)
c.80990G>C (p.Ser26997Thr)
c.80789G>C (p.Ser26930Thr)
c.80414G>C (p.Ser26805Thr)
c.107609G>C (p.Ser35870Thr)
c.102686G>C (p.Ser34229Thr)
n.446+3881C>G
n.219+3881C>G
c.106706G>C (p.Ser35569Thr)
c.80600G>C (p.Ser26867Thr)
c.80459G>C (p.Ser26820Thr)
c.106502G>C (p.Ser35501Thr)
c.101900G>C (p.Ser33967Thr)
c.101897G>C (p.Ser33966Thr)
c.98939G>C (p.Ser32980Thr)
c.80555G>C (p.Ser26852Thr)
c.102050G>C (p.Ser34017Thr)
c.102047G>C (p.Ser34016Thr)
c.101480G>C (p.Ser33827Thr)
c.98822G>C (p.Ser32941Thr)
c.98741G>C (p.Ser32914Thr)
c.80504G>C (p.Ser26835Thr)
c.70358G>C (p.Ser23453Thr)
2g.178527517C>TCA349399959TTN,TTN-AS1c.99905G>A (p.Ser33302Asn)
c.80990G>A (p.Ser26997Asn)
c.80789G>A (p.Ser26930Asn)
c.80414G>A (p.Ser26805Asn)
c.107609G>A (p.Ser35870Asn)
c.102686G>A (p.Ser34229Asn)
n.446+3881C>T
n.219+3881C>T
c.106706G>A (p.Ser35569Asn)
c.80600G>A (p.Ser26867Asn)
c.80459G>A (p.Ser26820Asn)
c.106502G>A (p.Ser35501Asn)
c.101900G>A (p.Ser33967Asn)
c.101897G>A (p.Ser33966Asn)
c.98939G>A (p.Ser32980Asn)
c.80555G>A (p.Ser26852Asn)
c.102050G>A (p.Ser34017Asn)
c.102047G>A (p.Ser34016Asn)
c.101480G>A (p.Ser33827Asn)
c.98822G>A (p.Ser32941Asn)
c.98741G>A (p.Ser32914Asn)
c.80504G>A (p.Ser26835Asn)
c.70358G>A (p.Ser23453Asn)
2g.178527518T>ACA349399964TTN,TTN-AS1c.99904A>T (p.Ser33302Cys)
c.80989A>T (p.Ser26997Cys)
c.80788A>T (p.Ser26930Cys)
c.80413A>T (p.Ser26805Cys)
c.107608A>T (p.Ser35870Cys)
c.102685A>T (p.Ser34229Cys)
n.446+3882T>A
n.219+3882T>A
c.106705A>T (p.Ser35569Cys)
c.80599A>T (p.Ser26867Cys)
c.80458A>T (p.Ser26820Cys)
c.106501A>T (p.Ser35501Cys)
c.101899A>T (p.Ser33967Cys)
c.101896A>T (p.Ser33966Cys)
c.98938A>T (p.Ser32980Cys)
c.80554A>T (p.Ser26852Cys)
c.102049A>T (p.Ser34017Cys)
c.102046A>T (p.Ser34016Cys)
c.101479A>T (p.Ser33827Cys)
c.98821A>T (p.Ser32941Cys)
c.98740A>T (p.Ser32914Cys)
c.80503A>T (p.Ser26835Cys)
c.70357A>T (p.Ser23453Cys)
2g.178527518T>CCA349399966TTN,TTN-AS1c.99904A>G (p.Ser33302Gly)
c.80989A>G (p.Ser26997Gly)
c.80788A>G (p.Ser26930Gly)
c.80413A>G (p.Ser26805Gly)
c.107608A>G (p.Ser35870Gly)
c.102685A>G (p.Ser34229Gly)
n.446+3882T>C
n.219+3882T>C
c.106705A>G (p.Ser35569Gly)
c.80599A>G (p.Ser26867Gly)
c.80458A>G (p.Ser26820Gly)
c.106501A>G (p.Ser35501Gly)
c.101899A>G (p.Ser33967Gly)
c.101896A>G (p.Ser33966Gly)
c.98938A>G (p.Ser32980Gly)
c.80554A>G (p.Ser26852Gly)
c.102049A>G (p.Ser34017Gly)
c.102046A>G (p.Ser34016Gly)
c.101479A>G (p.Ser33827Gly)
c.98821A>G (p.Ser32941Gly)
c.98740A>G (p.Ser32914Gly)
c.80503A>G (p.Ser26835Gly)
c.70357A>G (p.Ser23453Gly)
2g.178527518T>GCA349399967TTN,TTN-AS1c.99904A>C (p.Ser33302Arg)
c.80989A>C (p.Ser26997Arg)
c.80788A>C (p.Ser26930Arg)
c.80413A>C (p.Ser26805Arg)
c.107608A>C (p.Ser35870Arg)
c.102685A>C (p.Ser34229Arg)
n.446+3882T>G
n.219+3882T>G
c.106705A>C (p.Ser35569Arg)
c.80599A>C (p.Ser26867Arg)
c.80458A>C (p.Ser26820Arg)
c.106501A>C (p.Ser35501Arg)
c.101899A>C (p.Ser33967Arg)
c.101896A>C (p.Ser33966Arg)
c.98938A>C (p.Ser32980Arg)
c.80554A>C (p.Ser26852Arg)
c.102049A>C (p.Ser34017Arg)
c.102046A>C (p.Ser34016Arg)
c.101479A>C (p.Ser33827Arg)
c.98821A>C (p.Ser32941Arg)
c.98740A>C (p.Ser32914Arg)
c.80503A>C (p.Ser26835Arg)
c.70357A>C (p.Ser23453Arg)
2g.178527519G>ACA430234258TTN,TTN-AS1c.99903C>T (p.Ser33301=)
c.80988C>T (p.Ser26996=)
c.80787C>T (p.Ser26929=)
c.80412C>T (p.Ser26804=)
c.107607C>T (p.Ser35869=)
c.102684C>T (p.Ser34228=)
n.446+3883G>A
n.219+3883G>A
c.106704C>T (p.Ser35568=)
c.80598C>T (p.Ser26866=)
c.80457C>T (p.Ser26819=)
c.106500C>T (p.Ser35500=)
c.101898C>T (p.Ser33966=)
c.101895C>T (p.Ser33965=)
c.98937C>T (p.Ser32979=)
c.80553C>T (p.Ser26851=)
c.102048C>T (p.Ser34016=)
c.102045C>T (p.Ser34015=)
c.101478C>T (p.Ser33826=)
c.98820C>T (p.Ser32940=)
c.98739C>T (p.Ser32913=)
c.80502C>T (p.Ser26834=)
c.70356C>T (p.Ser23452=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527519G>CCA349399969TTN,TTN-AS1c.99903C>G (p.Ser33301Arg)
c.80988C>G (p.Ser26996Arg)
c.80787C>G (p.Ser26929Arg)
c.80412C>G (p.Ser26804Arg)
c.107607C>G (p.Ser35869Arg)
c.102684C>G (p.Ser34228Arg)
n.446+3883G>C
n.219+3883G>C
c.106704C>G (p.Ser35568Arg)
c.80598C>G (p.Ser26866Arg)
c.80457C>G (p.Ser26819Arg)
c.106500C>G (p.Ser35500Arg)
c.101898C>G (p.Ser33966Arg)
c.101895C>G (p.Ser33965Arg)
c.98937C>G (p.Ser32979Arg)
c.80553C>G (p.Ser26851Arg)
c.102048C>G (p.Ser34016Arg)
c.102045C>G (p.Ser34015Arg)
c.101478C>G (p.Ser33826Arg)
c.98820C>G (p.Ser32940Arg)
c.98739C>G (p.Ser32913Arg)
c.80502C>G (p.Ser26834Arg)
c.70356C>G (p.Ser23452Arg)
2g.178527519G=CA1310508151TTN,TTN-AS1c.99903C= (p.Ser33301=)
c.80988C= (p.Ser26996=)
c.80787C= (p.Ser26929=)
c.80412C= (p.Ser26804=)
c.107607C= (p.Ser35869=)
c.102684C= (p.Ser34228=)
n.446+3883G=
n.219+3883G=
c.106704C= (p.Ser35568=)
c.80598C= (p.Ser26866=)
c.80457C= (p.Ser26819=)
c.106500C= (p.Ser35500=)
c.101898C= (p.Ser33966=)
c.101895C= (p.Ser33965=)
c.98937C= (p.Ser32979=)
c.80553C= (p.Ser26851=)
c.102048C= (p.Ser34016=)
c.102045C= (p.Ser34015=)
c.101478C= (p.Ser33826=)
c.98820C= (p.Ser32940=)
c.98739C= (p.Ser32913=)
c.80502C= (p.Ser26834=)
c.70356C= (p.Ser23452=)
2g.178527519G>TCA349399971TTN,TTN-AS1c.99903C>A (p.Ser33301Arg)
c.80988C>A (p.Ser26996Arg)
c.80787C>A (p.Ser26929Arg)
c.80412C>A (p.Ser26804Arg)
c.107607C>A (p.Ser35869Arg)
c.102684C>A (p.Ser34228Arg)
n.446+3883G>T
n.219+3883G>T
c.106704C>A (p.Ser35568Arg)
c.80598C>A (p.Ser26866Arg)
c.80457C>A (p.Ser26819Arg)
c.106500C>A (p.Ser35500Arg)
c.101898C>A (p.Ser33966Arg)
c.101895C>A (p.Ser33965Arg)
c.98937C>A (p.Ser32979Arg)
c.80553C>A (p.Ser26851Arg)
c.102048C>A (p.Ser34016Arg)
c.102045C>A (p.Ser34015Arg)
c.101478C>A (p.Ser33826Arg)
c.98820C>A (p.Ser32940Arg)
c.98739C>A (p.Ser32913Arg)
c.80502C>A (p.Ser26834Arg)
c.70356C>A (p.Ser23452Arg)
2g.178527520C>ACA349399975TTN,TTN-AS1c.99902G>T (p.Ser33301Ile)
c.80987G>T (p.Ser26996Ile)
c.80786G>T (p.Ser26929Ile)
c.80411G>T (p.Ser26804Ile)
c.107606G>T (p.Ser35869Ile)
c.102683G>T (p.Ser34228Ile)
n.446+3884C>A
n.219+3884C>A
c.106703G>T (p.Ser35568Ile)
c.80597G>T (p.Ser26866Ile)
c.80456G>T (p.Ser26819Ile)
c.106499G>T (p.Ser35500Ile)
c.101897G>T (p.Ser33966Ile)
c.101894G>T (p.Ser33965Ile)
c.98936G>T (p.Ser32979Ile)
c.80552G>T (p.Ser26851Ile)
c.102047G>T (p.Ser34016Ile)
c.102044G>T (p.Ser34015Ile)
c.101477G>T (p.Ser33826Ile)
c.98819G>T (p.Ser32940Ile)
c.98738G>T (p.Ser32913Ile)
c.80501G>T (p.Ser26834Ile)
c.70355G>T (p.Ser23452Ile)
2g.178527520C>GCA349399974TTN,TTN-AS1c.99902G>C (p.Ser33301Thr)
c.80987G>C (p.Ser26996Thr)
c.80786G>C (p.Ser26929Thr)
c.80411G>C (p.Ser26804Thr)
c.107606G>C (p.Ser35869Thr)
c.102683G>C (p.Ser34228Thr)
n.446+3884C>G
n.219+3884C>G
c.106703G>C (p.Ser35568Thr)
c.80597G>C (p.Ser26866Thr)
c.80456G>C (p.Ser26819Thr)
c.106499G>C (p.Ser35500Thr)
c.101897G>C (p.Ser33966Thr)
c.101894G>C (p.Ser33965Thr)
c.98936G>C (p.Ser32979Thr)
c.80552G>C (p.Ser26851Thr)
c.102047G>C (p.Ser34016Thr)
c.102044G>C (p.Ser34015Thr)
c.101477G>C (p.Ser33826Thr)
c.98819G>C (p.Ser32940Thr)
c.98738G>C (p.Ser32913Thr)
c.80501G>C (p.Ser26834Thr)
c.70355G>C (p.Ser23452Thr)
2g.178527520C>TCA349399972TTN,TTN-AS1c.99902G>A (p.Ser33301Asn)
c.80987G>A (p.Ser26996Asn)
c.80786G>A (p.Ser26929Asn)
c.80411G>A (p.Ser26804Asn)
c.107606G>A (p.Ser35869Asn)
c.102683G>A (p.Ser34228Asn)
n.446+3884C>T
n.219+3884C>T
c.106703G>A (p.Ser35568Asn)
c.80597G>A (p.Ser26866Asn)
c.80456G>A (p.Ser26819Asn)
c.106499G>A (p.Ser35500Asn)
c.101897G>A (p.Ser33966Asn)
c.101894G>A (p.Ser33965Asn)
c.98936G>A (p.Ser32979Asn)
c.80552G>A (p.Ser26851Asn)
c.102047G>A (p.Ser34016Asn)
c.102044G>A (p.Ser34015Asn)
c.101477G>A (p.Ser33826Asn)
c.98819G>A (p.Ser32940Asn)
c.98738G>A (p.Ser32913Asn)
c.80501G>A (p.Ser26834Asn)
c.70355G>A (p.Ser23452Asn)
2g.178527521T>ACA349399977TTN,TTN-AS1c.99901A>T (p.Ser33301Cys)
c.80986A>T (p.Ser26996Cys)
c.80785A>T (p.Ser26929Cys)
c.80410A>T (p.Ser26804Cys)
c.107605A>T (p.Ser35869Cys)
c.102682A>T (p.Ser34228Cys)
n.446+3885T>A
n.219+3885T>A
c.106702A>T (p.Ser35568Cys)
c.80596A>T (p.Ser26866Cys)
c.80455A>T (p.Ser26819Cys)
c.106498A>T (p.Ser35500Cys)
c.101896A>T (p.Ser33966Cys)
c.101893A>T (p.Ser33965Cys)
c.98935A>T (p.Ser32979Cys)
c.80551A>T (p.Ser26851Cys)
c.102046A>T (p.Ser34016Cys)
c.102043A>T (p.Ser34015Cys)
c.101476A>T (p.Ser33826Cys)
c.98818A>T (p.Ser32940Cys)
c.98737A>T (p.Ser32913Cys)
c.80500A>T (p.Ser26834Cys)
c.70354A>T (p.Ser23452Cys)
2g.178527521T>CCA141780TTN,TTN-AS1c.99901A>G (p.Ser33301Gly)
c.80986A>G (p.Ser26996Gly)
c.80785A>G (p.Ser26929Gly)
c.80410A>G (p.Ser26804Gly)
c.107605A>G (p.Ser35869Gly)
c.102682A>G (p.Ser34228Gly)
n.446+3885T>C
n.219+3885T>C
c.106702A>G (p.Ser35568Gly)
c.80596A>G (p.Ser26866Gly)
c.80455A>G (p.Ser26819Gly)
c.106498A>G (p.Ser35500Gly)
c.101896A>G (p.Ser33966Gly)
c.101893A>G (p.Ser33965Gly)
c.98935A>G (p.Ser32979Gly)
c.80551A>G (p.Ser26851Gly)
c.102046A>G (p.Ser34016Gly)
c.102043A>G (p.Ser34015Gly)
c.101476A>G (p.Ser33826Gly)
c.98818A>G (p.Ser32940Gly)
c.98737A>G (p.Ser32913Gly)
c.80500A>G (p.Ser26834Gly)
c.70354A>G (p.Ser23452Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527521T>GCA349399979TTN,TTN-AS1c.99901A>C (p.Ser33301Arg)
c.80986A>C (p.Ser26996Arg)
c.80785A>C (p.Ser26929Arg)
c.80410A>C (p.Ser26804Arg)
c.107605A>C (p.Ser35869Arg)
c.102682A>C (p.Ser34228Arg)
n.446+3885T>G
n.219+3885T>G
c.106702A>C (p.Ser35568Arg)
c.80596A>C (p.Ser26866Arg)
c.80455A>C (p.Ser26819Arg)
c.106498A>C (p.Ser35500Arg)
c.101896A>C (p.Ser33966Arg)
c.101893A>C (p.Ser33965Arg)
c.98935A>C (p.Ser32979Arg)
c.80551A>C (p.Ser26851Arg)
c.102046A>C (p.Ser34016Arg)
c.102043A>C (p.Ser34015Arg)
c.101476A>C (p.Ser33826Arg)
c.98818A>C (p.Ser32940Arg)
c.98737A>C (p.Ser32913Arg)
c.80500A>C (p.Ser26834Arg)
c.70354A>C (p.Ser23452Arg)
2g.178527521T=CA1310508158TTN,TTN-AS1c.99901A= (p.Ser33301=)
c.80986A= (p.Ser26996=)
c.80785A= (p.Ser26929=)
c.80410A= (p.Ser26804=)
c.107605A= (p.Ser35869=)
c.102682A= (p.Ser34228=)
n.446+3885T=
n.219+3885T=
c.106702A= (p.Ser35568=)
c.80596A= (p.Ser26866=)
c.80455A= (p.Ser26819=)
c.106498A= (p.Ser35500=)
c.101896A= (p.Ser33966=)
c.101893A= (p.Ser33965=)
c.98935A= (p.Ser32979=)
c.80551A= (p.Ser26851=)
c.102046A= (p.Ser34016=)
c.102043A= (p.Ser34015=)
c.101476A= (p.Ser33826=)
c.98818A= (p.Ser32940=)
c.98737A= (p.Ser32913=)
c.80500A= (p.Ser26834=)
c.70354A= (p.Ser23452=)
2g.178527522G>ACA430234269TTN,TTN-AS1c.99900C>T (p.Ser33300=)
c.80985C>T (p.Ser26995=)
c.80784C>T (p.Ser26928=)
c.80409C>T (p.Ser26803=)
c.107604C>T (p.Ser35868=)
c.102681C>T (p.Ser34227=)
n.446+3886G>A
n.219+3886G>A
c.106701C>T (p.Ser35567=)
c.80595C>T (p.Ser26865=)
c.80454C>T (p.Ser26818=)
c.106497C>T (p.Ser35499=)
c.101895C>T (p.Ser33965=)
c.101892C>T (p.Ser33964=)
c.98934C>T (p.Ser32978=)
c.80550C>T (p.Ser26850=)
c.102045C>T (p.Ser34015=)
c.102042C>T (p.Ser34014=)
c.101475C>T (p.Ser33825=)
c.98817C>T (p.Ser32939=)
c.98736C>T (p.Ser32912=)
c.80499C>T (p.Ser26833=)
c.70353C>T (p.Ser23451=)
2g.178527522G>CCA430234271TTN,TTN-AS1c.99900C>G (p.Ser33300=)
c.80985C>G (p.Ser26995=)
c.80784C>G (p.Ser26928=)
c.80409C>G (p.Ser26803=)
c.107604C>G (p.Ser35868=)
c.102681C>G (p.Ser34227=)
n.446+3886G>C
n.219+3886G>C
c.106701C>G (p.Ser35567=)
c.80595C>G (p.Ser26865=)
c.80454C>G (p.Ser26818=)
c.106497C>G (p.Ser35499=)
c.101895C>G (p.Ser33965=)
c.101892C>G (p.Ser33964=)
c.98934C>G (p.Ser32978=)
c.80550C>G (p.Ser26850=)
c.102045C>G (p.Ser34015=)
c.102042C>G (p.Ser34014=)
c.101475C>G (p.Ser33825=)
c.98817C>G (p.Ser32939=)
c.98736C>G (p.Ser32912=)
c.80499C>G (p.Ser26833=)
c.70353C>G (p.Ser23451=)
2g.178527522G>TCA430234273TTN,TTN-AS1c.99900C>A (p.Ser33300=)
c.80985C>A (p.Ser26995=)
c.80784C>A (p.Ser26928=)
c.80409C>A (p.Ser26803=)
c.107604C>A (p.Ser35868=)
c.102681C>A (p.Ser34227=)
n.446+3886G>T
n.219+3886G>T
c.106701C>A (p.Ser35567=)
c.80595C>A (p.Ser26865=)
c.80454C>A (p.Ser26818=)
c.106497C>A (p.Ser35499=)
c.101895C>A (p.Ser33965=)
c.101892C>A (p.Ser33964=)
c.98934C>A (p.Ser32978=)
c.80550C>A (p.Ser26850=)
c.102045C>A (p.Ser34015=)
c.102042C>A (p.Ser34014=)
c.101475C>A (p.Ser33825=)
c.98817C>A (p.Ser32939=)
c.98736C>A (p.Ser32912=)
c.80499C>A (p.Ser26833=)
c.70353C>A (p.Ser23451=)
2g.178527523G>ACA349399981TTN,TTN-AS1c.99899C>T (p.Ser33300Phe)
c.80984C>T (p.Ser26995Phe)
c.80783C>T (p.Ser26928Phe)
c.80408C>T (p.Ser26803Phe)
c.107603C>T (p.Ser35868Phe)
c.102680C>T (p.Ser34227Phe)
n.446+3887G>A
n.219+3887G>A
c.106700C>T (p.Ser35567Phe)
c.80594C>T (p.Ser26865Phe)
c.80453C>T (p.Ser26818Phe)
c.106496C>T (p.Ser35499Phe)
c.101894C>T (p.Ser33965Phe)
c.101891C>T (p.Ser33964Phe)
c.98933C>T (p.Ser32978Phe)
c.80549C>T (p.Ser26850Phe)
c.102044C>T (p.Ser34015Phe)
c.102041C>T (p.Ser34014Phe)
c.101474C>T (p.Ser33825Phe)
c.98816C>T (p.Ser32939Phe)
c.98735C>T (p.Ser32912Phe)
c.80498C>T (p.Ser26833Phe)
c.70352C>T (p.Ser23451Phe)
2g.178527523G>CCA349399983TTN,TTN-AS1c.99899C>G (p.Ser33300Cys)
c.80984C>G (p.Ser26995Cys)
c.80783C>G (p.Ser26928Cys)
c.80408C>G (p.Ser26803Cys)
c.107603C>G (p.Ser35868Cys)
c.102680C>G (p.Ser34227Cys)
n.446+3887G>C
n.219+3887G>C
c.106700C>G (p.Ser35567Cys)
c.80594C>G (p.Ser26865Cys)
c.80453C>G (p.Ser26818Cys)
c.106496C>G (p.Ser35499Cys)
c.101894C>G (p.Ser33965Cys)
c.101891C>G (p.Ser33964Cys)
c.98933C>G (p.Ser32978Cys)
c.80549C>G (p.Ser26850Cys)
c.102044C>G (p.Ser34015Cys)
c.102041C>G (p.Ser34014Cys)
c.101474C>G (p.Ser33825Cys)
c.98816C>G (p.Ser32939Cys)
c.98735C>G (p.Ser32912Cys)
c.80498C>G (p.Ser26833Cys)
c.70352C>G (p.Ser23451Cys)
2g.178527523G>TCA349399984TTN,TTN-AS1c.99899C>A (p.Ser33300Tyr)
c.80984C>A (p.Ser26995Tyr)
c.80783C>A (p.Ser26928Tyr)
c.80408C>A (p.Ser26803Tyr)
c.107603C>A (p.Ser35868Tyr)
c.102680C>A (p.Ser34227Tyr)
n.446+3887G>T
n.219+3887G>T
c.106700C>A (p.Ser35567Tyr)
c.80594C>A (p.Ser26865Tyr)
c.80453C>A (p.Ser26818Tyr)
c.106496C>A (p.Ser35499Tyr)
c.101894C>A (p.Ser33965Tyr)
c.101891C>A (p.Ser33964Tyr)
c.98933C>A (p.Ser32978Tyr)
c.80549C>A (p.Ser26850Tyr)
c.102044C>A (p.Ser34015Tyr)
c.102041C>A (p.Ser34014Tyr)
c.101474C>A (p.Ser33825Tyr)
c.98816C>A (p.Ser32939Tyr)
c.98735C>A (p.Ser32912Tyr)
c.80498C>A (p.Ser26833Tyr)
c.70352C>A (p.Ser23451Tyr)
2g.178527524A>CCA349399988TTN,TTN-AS1c.99898T>G (p.Ser33300Ala)
c.80983T>G (p.Ser26995Ala)
c.80782T>G (p.Ser26928Ala)
c.80407T>G (p.Ser26803Ala)
c.107602T>G (p.Ser35868Ala)
c.102679T>G (p.Ser34227Ala)
n.446+3888A>C
n.219+3888A>C
c.106699T>G (p.Ser35567Ala)
c.80593T>G (p.Ser26865Ala)
c.80452T>G (p.Ser26818Ala)
c.106495T>G (p.Ser35499Ala)
c.101893T>G (p.Ser33965Ala)
c.101890T>G (p.Ser33964Ala)
c.98932T>G (p.Ser32978Ala)
c.80548T>G (p.Ser26850Ala)
c.102043T>G (p.Ser34015Ala)
c.102040T>G (p.Ser34014Ala)
c.101473T>G (p.Ser33825Ala)
c.98815T>G (p.Ser32939Ala)
c.98734T>G (p.Ser32912Ala)
c.80497T>G (p.Ser26833Ala)
c.70351T>G (p.Ser23451Ala)
2g.178527524A>GCA349399986TTN,TTN-AS1c.99898T>C (p.Ser33300Pro)
c.80983T>C (p.Ser26995Pro)
c.80782T>C (p.Ser26928Pro)
c.80407T>C (p.Ser26803Pro)
c.107602T>C (p.Ser35868Pro)
c.102679T>C (p.Ser34227Pro)
n.446+3888A>G
n.219+3888A>G
c.106699T>C (p.Ser35567Pro)
c.80593T>C (p.Ser26865Pro)
c.80452T>C (p.Ser26818Pro)
c.106495T>C (p.Ser35499Pro)
c.101893T>C (p.Ser33965Pro)
c.101890T>C (p.Ser33964Pro)
c.98932T>C (p.Ser32978Pro)
c.80548T>C (p.Ser26850Pro)
c.102043T>C (p.Ser34015Pro)
c.102040T>C (p.Ser34014Pro)
c.101473T>C (p.Ser33825Pro)
c.98815T>C (p.Ser32939Pro)
c.98734T>C (p.Ser32912Pro)
c.80497T>C (p.Ser26833Pro)
c.70351T>C (p.Ser23451Pro)
2g.178527524A>TCA349399987TTN,TTN-AS1c.99898T>A (p.Ser33300Thr)
c.80983T>A (p.Ser26995Thr)
c.80782T>A (p.Ser26928Thr)
c.80407T>A (p.Ser26803Thr)
c.107602T>A (p.Ser35868Thr)
c.102679T>A (p.Ser34227Thr)
n.446+3888A>T
n.219+3888A>T
c.106699T>A (p.Ser35567Thr)
c.80593T>A (p.Ser26865Thr)
c.80452T>A (p.Ser26818Thr)
c.106495T>A (p.Ser35499Thr)
c.101893T>A (p.Ser33965Thr)
c.101890T>A (p.Ser33964Thr)
c.98932T>A (p.Ser32978Thr)
c.80548T>A (p.Ser26850Thr)
c.102043T>A (p.Ser34015Thr)
c.102040T>A (p.Ser34014Thr)
c.101473T>A (p.Ser33825Thr)
c.98815T>A (p.Ser32939Thr)
c.98734T>A (p.Ser32912Thr)
c.80497T>A (p.Ser26833Thr)
c.70351T>A (p.Ser23451Thr)
2g.178527525A>CCA349399989TTN,TTN-AS1c.99897T>G (p.Ser33299Arg)
c.80982T>G (p.Ser26994Arg)
c.80781T>G (p.Ser26927Arg)
c.80406T>G (p.Ser26802Arg)
c.107601T>G (p.Ser35867Arg)
c.102678T>G (p.Ser34226Arg)
n.446+3889A>C
n.219+3889A>C
c.106698T>G (p.Ser35566Arg)
c.80592T>G (p.Ser26864Arg)
c.80451T>G (p.Ser26817Arg)
c.106494T>G (p.Ser35498Arg)
c.101892T>G (p.Ser33964Arg)
c.101889T>G (p.Ser33963Arg)
c.98931T>G (p.Ser32977Arg)
c.80547T>G (p.Ser26849Arg)
c.102042T>G (p.Ser34014Arg)
c.102039T>G (p.Ser34013Arg)
c.101472T>G (p.Ser33824Arg)
c.98814T>G (p.Ser32938Arg)
c.98733T>G (p.Ser32911Arg)
c.80496T>G (p.Ser26832Arg)
c.70350T>G (p.Ser23450Arg)
2g.178527525A>GCA430234279TTN,TTN-AS1c.99897T>C (p.Ser33299=)
c.80982T>C (p.Ser26994=)
c.80781T>C (p.Ser26927=)
c.80406T>C (p.Ser26802=)
c.107601T>C (p.Ser35867=)
c.102678T>C (p.Ser34226=)
n.446+3889A>G
n.219+3889A>G
c.106698T>C (p.Ser35566=)
c.80592T>C (p.Ser26864=)
c.80451T>C (p.Ser26817=)
c.106494T>C (p.Ser35498=)
c.101892T>C (p.Ser33964=)
c.101889T>C (p.Ser33963=)
c.98931T>C (p.Ser32977=)
c.80547T>C (p.Ser26849=)
c.102042T>C (p.Ser34014=)
c.102039T>C (p.Ser34013=)
c.101472T>C (p.Ser33824=)
c.98814T>C (p.Ser32938=)
c.98733T>C (p.Ser32911=)
c.80496T>C (p.Ser26832=)
c.70350T>C (p.Ser23450=)
2g.178527525A>TCA349399991TTN,TTN-AS1c.99897T>A (p.Ser33299Arg)
c.80982T>A (p.Ser26994Arg)
c.80781T>A (p.Ser26927Arg)
c.80406T>A (p.Ser26802Arg)
c.107601T>A (p.Ser35867Arg)
c.102678T>A (p.Ser34226Arg)
n.446+3889A>T
n.219+3889A>T
c.106698T>A (p.Ser35566Arg)
c.80592T>A (p.Ser26864Arg)
c.80451T>A (p.Ser26817Arg)
c.106494T>A (p.Ser35498Arg)
c.101892T>A (p.Ser33964Arg)
c.101889T>A (p.Ser33963Arg)
c.98931T>A (p.Ser32977Arg)
c.80547T>A (p.Ser26849Arg)
c.102042T>A (p.Ser34014Arg)
c.102039T>A (p.Ser34013Arg)
c.101472T>A (p.Ser33824Arg)
c.98814T>A (p.Ser32938Arg)
c.98733T>A (p.Ser32911Arg)
c.80496T>A (p.Ser26832Arg)
c.70350T>A (p.Ser23450Arg)
2g.178527526C>ACA349399992TTN,TTN-AS1c.99896G>T (p.Ser33299Ile)
c.80981G>T (p.Ser26994Ile)
c.80780G>T (p.Ser26927Ile)
c.80405G>T (p.Ser26802Ile)
c.107600G>T (p.Ser35867Ile)
c.102677G>T (p.Ser34226Ile)
n.446+3890C>A
n.219+3890C>A
c.106697G>T (p.Ser35566Ile)
c.80591G>T (p.Ser26864Ile)
c.80450G>T (p.Ser26817Ile)
c.106493G>T (p.Ser35498Ile)
c.101891G>T (p.Ser33964Ile)
c.101888G>T (p.Ser33963Ile)
c.98930G>T (p.Ser32977Ile)
c.80546G>T (p.Ser26849Ile)
c.102041G>T (p.Ser34014Ile)
c.102038G>T (p.Ser34013Ile)
c.101471G>T (p.Ser33824Ile)
c.98813G>T (p.Ser32938Ile)
c.98732G>T (p.Ser32911Ile)
c.80495G>T (p.Ser26832Ile)
c.70349G>T (p.Ser23450Ile)
2g.178527526C>GCA349399993TTN,TTN-AS1c.99896G>C (p.Ser33299Thr)
c.80981G>C (p.Ser26994Thr)
c.80780G>C (p.Ser26927Thr)
c.80405G>C (p.Ser26802Thr)
c.107600G>C (p.Ser35867Thr)
c.102677G>C (p.Ser34226Thr)
n.446+3890C>G
n.219+3890C>G
c.106697G>C (p.Ser35566Thr)
c.80591G>C (p.Ser26864Thr)
c.80450G>C (p.Ser26817Thr)
c.106493G>C (p.Ser35498Thr)
c.101891G>C (p.Ser33964Thr)
c.101888G>C (p.Ser33963Thr)
c.98930G>C (p.Ser32977Thr)
c.80546G>C (p.Ser26849Thr)
c.102041G>C (p.Ser34014Thr)
c.102038G>C (p.Ser34013Thr)
c.101471G>C (p.Ser33824Thr)
c.98813G>C (p.Ser32938Thr)
c.98732G>C (p.Ser32911Thr)
c.80495G>C (p.Ser26832Thr)
c.70349G>C (p.Ser23450Thr)
2g.178527526C>TCA349399995TTN,TTN-AS1c.99896G>A (p.Ser33299Asn)
c.80981G>A (p.Ser26994Asn)
c.80780G>A (p.Ser26927Asn)
c.80405G>A (p.Ser26802Asn)
c.107600G>A (p.Ser35867Asn)
c.102677G>A (p.Ser34226Asn)
n.446+3890C>T
n.219+3890C>T
c.106697G>A (p.Ser35566Asn)
c.80591G>A (p.Ser26864Asn)
c.80450G>A (p.Ser26817Asn)
c.106493G>A (p.Ser35498Asn)
c.101891G>A (p.Ser33964Asn)
c.101888G>A (p.Ser33963Asn)
c.98930G>A (p.Ser32977Asn)
c.80546G>A (p.Ser26849Asn)
c.102041G>A (p.Ser34014Asn)
c.102038G>A (p.Ser34013Asn)
c.101471G>A (p.Ser33824Asn)
c.98813G>A (p.Ser32938Asn)
c.98732G>A (p.Ser32911Asn)
c.80495G>A (p.Ser26832Asn)
c.70349G>A (p.Ser23450Asn)
2g.178527527T>ACA349399999TTN,TTN-AS1c.99895A>T (p.Ser33299Cys)
c.80980A>T (p.Ser26994Cys)
c.80779A>T (p.Ser26927Cys)
c.80404A>T (p.Ser26802Cys)
c.107599A>T (p.Ser35867Cys)
c.102676A>T (p.Ser34226Cys)
n.446+3891T>A
n.219+3891T>A
c.106696A>T (p.Ser35566Cys)
c.80590A>T (p.Ser26864Cys)
c.80449A>T (p.Ser26817Cys)
c.106492A>T (p.Ser35498Cys)
c.101890A>T (p.Ser33964Cys)
c.101887A>T (p.Ser33963Cys)
c.98929A>T (p.Ser32977Cys)
c.80545A>T (p.Ser26849Cys)
c.102040A>T (p.Ser34014Cys)
c.102037A>T (p.Ser34013Cys)
c.101470A>T (p.Ser33824Cys)
c.98812A>T (p.Ser32938Cys)
c.98731A>T (p.Ser32911Cys)
c.80494A>T (p.Ser26832Cys)
c.70348A>T (p.Ser23450Cys)
2g.178527527T>CCA349399998TTN,TTN-AS1c.99895A>G (p.Ser33299Gly)
c.80980A>G (p.Ser26994Gly)
c.80779A>G (p.Ser26927Gly)
c.80404A>G (p.Ser26802Gly)
c.107599A>G (p.Ser35867Gly)
c.102676A>G (p.Ser34226Gly)
n.446+3891T>C
n.219+3891T>C
c.106696A>G (p.Ser35566Gly)
c.80590A>G (p.Ser26864Gly)
c.80449A>G (p.Ser26817Gly)
c.106492A>G (p.Ser35498Gly)
c.101890A>G (p.Ser33964Gly)
c.101887A>G (p.Ser33963Gly)
c.98929A>G (p.Ser32977Gly)
c.80545A>G (p.Ser26849Gly)
c.102040A>G (p.Ser34014Gly)
c.102037A>G (p.Ser34013Gly)
c.101470A>G (p.Ser33824Gly)
c.98812A>G (p.Ser32938Gly)
c.98731A>G (p.Ser32911Gly)
c.80494A>G (p.Ser26832Gly)
c.70348A>G (p.Ser23450Gly)
2g.178527527T>GCA349399997TTN,TTN-AS1c.99895A>C (p.Ser33299Arg)
c.80980A>C (p.Ser26994Arg)
c.80779A>C (p.Ser26927Arg)
c.80404A>C (p.Ser26802Arg)
c.107599A>C (p.Ser35867Arg)
c.102676A>C (p.Ser34226Arg)
n.446+3891T>G
n.219+3891T>G
c.106696A>C (p.Ser35566Arg)
c.80590A>C (p.Ser26864Arg)
c.80449A>C (p.Ser26817Arg)
c.106492A>C (p.Ser35498Arg)
c.101890A>C (p.Ser33964Arg)
c.101887A>C (p.Ser33963Arg)
c.98929A>C (p.Ser32977Arg)
c.80545A>C (p.Ser26849Arg)
c.102040A>C (p.Ser34014Arg)
c.102037A>C (p.Ser34013Arg)
c.101470A>C (p.Ser33824Arg)
c.98812A>C (p.Ser32938Arg)
c.98731A>C (p.Ser32911Arg)
c.80494A>C (p.Ser26832Arg)
c.70348A>C (p.Ser23450Arg)
2g.178527528C>ACA349400001TTN,TTN-AS1c.99894G>T (p.Met33298Ile)
c.80979G>T (p.Met26993Ile)
c.80778G>T (p.Met26926Ile)
c.80403G>T (p.Met26801Ile)
c.107598G>T (p.Met35866Ile)
c.102675G>T (p.Met34225Ile)
n.446+3892C>A
n.219+3892C>A
c.106695G>T (p.Met35565Ile)
c.80589G>T (p.Met26863Ile)
c.80448G>T (p.Met26816Ile)
c.106491G>T (p.Met35497Ile)
c.101889G>T (p.Met33963Ile)
c.101886G>T (p.Met33962Ile)
c.98928G>T (p.Met32976Ile)
c.80544G>T (p.Met26848Ile)
c.102039G>T (p.Met34013Ile)
c.102036G>T (p.Met34012Ile)
c.101469G>T (p.Met33823Ile)
c.98811G>T (p.Met32937Ile)
c.98730G>T (p.Met32910Ile)
c.80493G>T (p.Met26831Ile)
c.70347G>T (p.Met23449Ile)
2g.178527528C>GCA349400003TTN,TTN-AS1c.99894G>C (p.Met33298Ile)
c.80979G>C (p.Met26993Ile)
c.80778G>C (p.Met26926Ile)
c.80403G>C (p.Met26801Ile)
c.107598G>C (p.Met35866Ile)
c.102675G>C (p.Met34225Ile)
n.446+3892C>G
n.219+3892C>G
c.106695G>C (p.Met35565Ile)
c.80589G>C (p.Met26863Ile)
c.80448G>C (p.Met26816Ile)
c.106491G>C (p.Met35497Ile)
c.101889G>C (p.Met33963Ile)
c.101886G>C (p.Met33962Ile)
c.98928G>C (p.Met32976Ile)
c.80544G>C (p.Met26848Ile)
c.102039G>C (p.Met34013Ile)
c.102036G>C (p.Met34012Ile)
c.101469G>C (p.Met33823Ile)
c.98811G>C (p.Met32937Ile)
c.98730G>C (p.Met32910Ile)
c.80493G>C (p.Met26831Ile)
c.70347G>C (p.Met23449Ile)
2g.178527528C>TCA349400004TTN,TTN-AS1c.99894G>A (p.Met33298Ile)
c.80979G>A (p.Met26993Ile)
c.80778G>A (p.Met26926Ile)
c.80403G>A (p.Met26801Ile)
c.107598G>A (p.Met35866Ile)
c.102675G>A (p.Met34225Ile)
n.446+3892C>T
n.219+3892C>T
c.106695G>A (p.Met35565Ile)
c.80589G>A (p.Met26863Ile)
c.80448G>A (p.Met26816Ile)
c.106491G>A (p.Met35497Ile)
c.101889G>A (p.Met33963Ile)
c.101886G>A (p.Met33962Ile)
c.98928G>A (p.Met32976Ile)
c.80544G>A (p.Met26848Ile)
c.102039G>A (p.Met34013Ile)
c.102036G>A (p.Met34012Ile)
c.101469G>A (p.Met33823Ile)
c.98811G>A (p.Met32937Ile)
c.98730G>A (p.Met32910Ile)
c.80493G>A (p.Met26831Ile)
c.70347G>A (p.Met23449Ile)
2g.178527529delCA2577170191TTN,TTN-AS1c.99893del (p.Met33298ArgfsTer12)
c.80978del (p.Met26993ArgfsTer12)
c.80777del (p.Met26926ArgfsTer12)
c.80402del (p.Met26801ArgfsTer12)
c.107597del (p.Met35866ArgfsTer12)
c.102674del (p.Met34225ArgfsTer12)
n.446+3893del
n.219+3893del
c.106694del (p.Met35565ArgfsTer12)
c.80588del (p.Met26863ArgfsTer12)
c.80447del (p.Met26816ArgfsTer12)
c.106490del (p.Met35497ArgfsTer12)
c.101888del (p.Met33963ArgfsTer12)
c.101885del (p.Met33962ArgfsTer12)
c.98927del (p.Met32976ArgfsTer12)
c.80543del (p.Met26848ArgfsTer12)
c.102038del (p.Met34013ArgfsTer12)
c.102035del (p.Met34012ArgfsTer12)
c.101468del (p.Met33823ArgfsTer12)
c.98810del (p.Met32937ArgfsTer12)
c.98729del (p.Met32910ArgfsTer12)
c.80492del (p.Met26831ArgfsTer12)
c.70346del (p.Met23449ArgfsTer12)
2g.178527529A>CCA349400006TTN,TTN-AS1c.99893T>G (p.Met33298Arg)
c.80978T>G (p.Met26993Arg)
c.80777T>G (p.Met26926Arg)
c.80402T>G (p.Met26801Arg)
c.107597T>G (p.Met35866Arg)
c.102674T>G (p.Met34225Arg)
n.446+3893A>C
n.219+3893A>C
c.106694T>G (p.Met35565Arg)
c.80588T>G (p.Met26863Arg)
c.80447T>G (p.Met26816Arg)
c.106490T>G (p.Met35497Arg)
c.101888T>G (p.Met33963Arg)
c.101885T>G (p.Met33962Arg)
c.98927T>G (p.Met32976Arg)
c.80543T>G (p.Met26848Arg)
c.102038T>G (p.Met34013Arg)
c.102035T>G (p.Met34012Arg)
c.101468T>G (p.Met33823Arg)
c.98810T>G (p.Met32937Arg)
c.98729T>G (p.Met32910Arg)
c.80492T>G (p.Met26831Arg)
c.70346T>G (p.Met23449Arg)
2g.178527529A>GCA349400008TTN,TTN-AS1c.99893T>C (p.Met33298Thr)
c.80978T>C (p.Met26993Thr)
c.80777T>C (p.Met26926Thr)
c.80402T>C (p.Met26801Thr)
c.107597T>C (p.Met35866Thr)
c.102674T>C (p.Met34225Thr)
n.446+3893A>G
n.219+3893A>G
c.106694T>C (p.Met35565Thr)
c.80588T>C (p.Met26863Thr)
c.80447T>C (p.Met26816Thr)
c.106490T>C (p.Met35497Thr)
c.101888T>C (p.Met33963Thr)
c.101885T>C (p.Met33962Thr)
c.98927T>C (p.Met32976Thr)
c.80543T>C (p.Met26848Thr)
c.102038T>C (p.Met34013Thr)
c.102035T>C (p.Met34012Thr)
c.101468T>C (p.Met33823Thr)
c.98810T>C (p.Met32937Thr)
c.98729T>C (p.Met32910Thr)
c.80492T>C (p.Met26831Thr)
c.70346T>C (p.Met23449Thr)
2g.178527529A>TCA349400009TTN,TTN-AS1c.99893T>A (p.Met33298Lys)
c.80978T>A (p.Met26993Lys)
c.80777T>A (p.Met26926Lys)
c.80402T>A (p.Met26801Lys)
c.107597T>A (p.Met35866Lys)
c.102674T>A (p.Met34225Lys)
n.446+3893A>T
n.219+3893A>T
c.106694T>A (p.Met35565Lys)
c.80588T>A (p.Met26863Lys)
c.80447T>A (p.Met26816Lys)
c.106490T>A (p.Met35497Lys)
c.101888T>A (p.Met33963Lys)
c.101885T>A (p.Met33962Lys)
c.98927T>A (p.Met32976Lys)
c.80543T>A (p.Met26848Lys)
c.102038T>A (p.Met34013Lys)
c.102035T>A (p.Met34012Lys)
c.101468T>A (p.Met33823Lys)
c.98810T>A (p.Met32937Lys)
c.98729T>A (p.Met32910Lys)
c.80492T>A (p.Met26831Lys)
c.70346T>A (p.Met23449Lys)
 gnomAD v4
2g.178527530T>ACA349400011TTN,TTN-AS1c.99892A>T (p.Met33298Leu)
c.80977A>T (p.Met26993Leu)
c.80776A>T (p.Met26926Leu)
c.80401A>T (p.Met26801Leu)
c.107596A>T (p.Met35866Leu)
c.102673A>T (p.Met34225Leu)
n.446+3894T>A
n.219+3894T>A
c.106693A>T (p.Met35565Leu)
c.80587A>T (p.Met26863Leu)
c.80446A>T (p.Met26816Leu)
c.106489A>T (p.Met35497Leu)
c.101887A>T (p.Met33963Leu)
c.101884A>T (p.Met33962Leu)
c.98926A>T (p.Met32976Leu)
c.80542A>T (p.Met26848Leu)
c.102037A>T (p.Met34013Leu)
c.102034A>T (p.Met34012Leu)
c.101467A>T (p.Met33823Leu)
c.98809A>T (p.Met32937Leu)
c.98728A>T (p.Met32910Leu)
c.80491A>T (p.Met26831Leu)
c.70345A>T (p.Met23449Leu)
2g.178527530T>CCA349400014TTN,TTN-AS1c.99892A>G (p.Met33298Val)
c.80977A>G (p.Met26993Val)
c.80776A>G (p.Met26926Val)
c.80401A>G (p.Met26801Val)
c.107596A>G (p.Met35866Val)
c.102673A>G (p.Met34225Val)
n.446+3894T>C
n.219+3894T>C
c.106693A>G (p.Met35565Val)
c.80587A>G (p.Met26863Val)
c.80446A>G (p.Met26816Val)
c.106489A>G (p.Met35497Val)
c.101887A>G (p.Met33963Val)
c.101884A>G (p.Met33962Val)
c.98926A>G (p.Met32976Val)
c.80542A>G (p.Met26848Val)
c.102037A>G (p.Met34013Val)
c.102034A>G (p.Met34012Val)
c.101467A>G (p.Met33823Val)
c.98809A>G (p.Met32937Val)
c.98728A>G (p.Met32910Val)
c.80491A>G (p.Met26831Val)
c.70345A>G (p.Met23449Val)
2g.178527530T>GCA349400013TTN,TTN-AS1c.99892A>C (p.Met33298Leu)
c.80977A>C (p.Met26993Leu)
c.80776A>C (p.Met26926Leu)
c.80401A>C (p.Met26801Leu)
c.107596A>C (p.Met35866Leu)
c.102673A>C (p.Met34225Leu)
n.446+3894T>G
n.219+3894T>G
c.106693A>C (p.Met35565Leu)
c.80587A>C (p.Met26863Leu)
c.80446A>C (p.Met26816Leu)
c.106489A>C (p.Met35497Leu)
c.101887A>C (p.Met33963Leu)
c.101884A>C (p.Met33962Leu)
c.98926A>C (p.Met32976Leu)
c.80542A>C (p.Met26848Leu)
c.102037A>C (p.Met34013Leu)
c.102034A>C (p.Met34012Leu)
c.101467A>C (p.Met33823Leu)
c.98809A>C (p.Met32937Leu)
c.98728A>C (p.Met32910Leu)
c.80491A>C (p.Met26831Leu)
c.70345A>C (p.Met23449Leu)
2g.178527531T>ACA349400015TTN,TTN-AS1c.99891A>T (p.Glu33297Asp)
c.80976A>T (p.Glu26992Asp)
c.80775A>T (p.Glu26925Asp)
c.80400A>T (p.Glu26800Asp)
c.107595A>T (p.Glu35865Asp)
c.102672A>T (p.Glu34224Asp)
n.446+3895T>A
n.219+3895T>A
c.106692A>T (p.Glu35564Asp)
c.80586A>T (p.Glu26862Asp)
c.80445A>T (p.Glu26815Asp)
c.106488A>T (p.Glu35496Asp)
c.101886A>T (p.Glu33962Asp)
c.101883A>T (p.Glu33961Asp)
c.98925A>T (p.Glu32975Asp)
c.80541A>T (p.Glu26847Asp)
c.102036A>T (p.Glu34012Asp)
c.102033A>T (p.Glu34011Asp)
c.101466A>T (p.Glu33822Asp)
c.98808A>T (p.Glu32936Asp)
c.98727A>T (p.Glu32909Asp)
c.80490A>T (p.Glu26830Asp)
c.70344A>T (p.Glu23448Asp)
2g.178527531T>CCA430234294TTN,TTN-AS1c.99891A>G (p.Glu33297=)
c.80976A>G (p.Glu26992=)
c.80775A>G (p.Glu26925=)
c.80400A>G (p.Glu26800=)
c.107595A>G (p.Glu35865=)
c.102672A>G (p.Glu34224=)
n.446+3895T>C
n.219+3895T>C
c.106692A>G (p.Glu35564=)
c.80586A>G (p.Glu26862=)
c.80445A>G (p.Glu26815=)
c.106488A>G (p.Glu35496=)
c.101886A>G (p.Glu33962=)
c.101883A>G (p.Glu33961=)
c.98925A>G (p.Glu32975=)
c.80541A>G (p.Glu26847=)
c.102036A>G (p.Glu34012=)
c.102033A>G (p.Glu34011=)
c.101466A>G (p.Glu33822=)
c.98808A>G (p.Glu32936=)
c.98727A>G (p.Glu32909=)
c.80490A>G (p.Glu26830=)
c.70344A>G (p.Glu23448=)
2g.178527531T>GCA349400016TTN,TTN-AS1c.99891A>C (p.Glu33297Asp)
c.80976A>C (p.Glu26992Asp)
c.80775A>C (p.Glu26925Asp)
c.80400A>C (p.Glu26800Asp)
c.107595A>C (p.Glu35865Asp)
c.102672A>C (p.Glu34224Asp)
n.446+3895T>G
n.219+3895T>G
c.106692A>C (p.Glu35564Asp)
c.80586A>C (p.Glu26862Asp)
c.80445A>C (p.Glu26815Asp)
c.106488A>C (p.Glu35496Asp)
c.101886A>C (p.Glu33962Asp)
c.101883A>C (p.Glu33961Asp)
c.98925A>C (p.Glu32975Asp)
c.80541A>C (p.Glu26847Asp)
c.102036A>C (p.Glu34012Asp)
c.102033A>C (p.Glu34011Asp)
c.101466A>C (p.Glu33822Asp)
c.98808A>C (p.Glu32936Asp)
c.98727A>C (p.Glu32909Asp)
c.80490A>C (p.Glu26830Asp)
c.70344A>C (p.Glu23448Asp)
 ClinVar dbSNP
2g.178527531T=CA1310508162TTN,TTN-AS1c.99891A= (p.Glu33297=)
c.80976A= (p.Glu26992=)
c.80775A= (p.Glu26925=)
c.80400A= (p.Glu26800=)
c.107595A= (p.Glu35865=)
c.102672A= (p.Glu34224=)
n.446+3895T=
n.219+3895T=
c.106692A= (p.Glu35564=)
c.80586A= (p.Glu26862=)
c.80445A= (p.Glu26815=)
c.106488A= (p.Glu35496=)
c.101886A= (p.Glu33962=)
c.101883A= (p.Glu33961=)
c.98925A= (p.Glu32975=)
c.80541A= (p.Glu26847=)
c.102036A= (p.Glu34012=)
c.102033A= (p.Glu34011=)
c.101466A= (p.Glu33822=)
c.98808A= (p.Glu32936=)
c.98727A= (p.Glu32909=)
c.80490A= (p.Glu26830=)
c.70344A= (p.Glu23448=)
2g.178527532T>ACA349400017TTN,TTN-AS1c.99890A>T (p.Glu33297Val)
c.80975A>T (p.Glu26992Val)
c.80774A>T (p.Glu26925Val)
c.80399A>T (p.Glu26800Val)
c.107594A>T (p.Glu35865Val)
c.102671A>T (p.Glu34224Val)
n.446+3896T>A
n.219+3896T>A
c.106691A>T (p.Glu35564Val)
c.80585A>T (p.Glu26862Val)
c.80444A>T (p.Glu26815Val)
c.106487A>T (p.Glu35496Val)
c.101885A>T (p.Glu33962Val)
c.101882A>T (p.Glu33961Val)
c.98924A>T (p.Glu32975Val)
c.80540A>T (p.Glu26847Val)
c.102035A>T (p.Glu34012Val)
c.102032A>T (p.Glu34011Val)
c.101465A>T (p.Glu33822Val)
c.98807A>T (p.Glu32936Val)
c.98726A>T (p.Glu32909Val)
c.80489A>T (p.Glu26830Val)
c.70343A>T (p.Glu23448Val)
2g.178527532T>CCA349400018TTN,TTN-AS1c.99890A>G (p.Glu33297Gly)
c.80975A>G (p.Glu26992Gly)
c.80774A>G (p.Glu26925Gly)
c.80399A>G (p.Glu26800Gly)
c.107594A>G (p.Glu35865Gly)
c.102671A>G (p.Glu34224Gly)
n.446+3896T>C
n.219+3896T>C
c.106691A>G (p.Glu35564Gly)
c.80585A>G (p.Glu26862Gly)
c.80444A>G (p.Glu26815Gly)
c.106487A>G (p.Glu35496Gly)
c.101885A>G (p.Glu33962Gly)
c.101882A>G (p.Glu33961Gly)
c.98924A>G (p.Glu32975Gly)
c.80540A>G (p.Glu26847Gly)
c.102035A>G (p.Glu34012Gly)
c.102032A>G (p.Glu34011Gly)
c.101465A>G (p.Glu33822Gly)
c.98807A>G (p.Glu32936Gly)
c.98726A>G (p.Glu32909Gly)
c.80489A>G (p.Glu26830Gly)
c.70343A>G (p.Glu23448Gly)
2g.178527532T>GCA349400019TTN,TTN-AS1c.99890A>C (p.Glu33297Ala)
c.80975A>C (p.Glu26992Ala)
c.80774A>C (p.Glu26925Ala)
c.80399A>C (p.Glu26800Ala)
c.107594A>C (p.Glu35865Ala)
c.102671A>C (p.Glu34224Ala)
n.446+3896T>G
n.219+3896T>G
c.106691A>C (p.Glu35564Ala)
c.80585A>C (p.Glu26862Ala)
c.80444A>C (p.Glu26815Ala)
c.106487A>C (p.Glu35496Ala)
c.101885A>C (p.Glu33962Ala)
c.101882A>C (p.Glu33961Ala)
c.98924A>C (p.Glu32975Ala)
c.80540A>C (p.Glu26847Ala)
c.102035A>C (p.Glu34012Ala)
c.102032A>C (p.Glu34011Ala)
c.101465A>C (p.Glu33822Ala)
c.98807A>C (p.Glu32936Ala)
c.98726A>C (p.Glu32909Ala)
c.80489A>C (p.Glu26830Ala)
c.70343A>C (p.Glu23448Ala)
2g.178527533C>ACA349400020TTN,TTN-AS1c.99889G>T (p.Glu33297Ter)
c.80974G>T (p.Glu26992Ter)
c.80773G>T (p.Glu26925Ter)
c.80398G>T (p.Glu26800Ter)
c.107593G>T (p.Glu35865Ter)
c.102670G>T (p.Glu34224Ter)
n.446+3897C>A
n.219+3897C>A
c.106690G>T (p.Glu35564Ter)
c.80584G>T (p.Glu26862Ter)
c.80443G>T (p.Glu26815Ter)
c.106486G>T (p.Glu35496Ter)
c.101884G>T (p.Glu33962Ter)
c.101881G>T (p.Glu33961Ter)
c.98923G>T (p.Glu32975Ter)
c.80539G>T (p.Glu26847Ter)
c.102034G>T (p.Glu34012Ter)
c.102031G>T (p.Glu34011Ter)
c.101464G>T (p.Glu33822Ter)
c.98806G>T (p.Glu32936Ter)
c.98725G>T (p.Glu32909Ter)
c.80488G>T (p.Glu26830Ter)
c.70342G>T (p.Glu23448Ter)
2g.178527533C=CA1310508169TTN,TTN-AS1c.99889G= (p.Glu33297=)
c.80974G= (p.Glu26992=)
c.80773G= (p.Glu26925=)
c.80398G= (p.Glu26800=)
c.107593G= (p.Glu35865=)
c.102670G= (p.Glu34224=)
n.446+3897C=
n.219+3897C=
c.106690G= (p.Glu35564=)
c.80584G= (p.Glu26862=)
c.80443G= (p.Glu26815=)
c.106486G= (p.Glu35496=)
c.101884G= (p.Glu33962=)
c.101881G= (p.Glu33961=)
c.98923G= (p.Glu32975=)
c.80539G= (p.Glu26847=)
c.102034G= (p.Glu34012=)
c.102031G= (p.Glu34011=)
c.101464G= (p.Glu33822=)
c.98806G= (p.Glu32936=)
c.98725G= (p.Glu32909=)
c.80488G= (p.Glu26830=)
c.70342G= (p.Glu23448=)
2g.178527533C>GCA349400021TTN,TTN-AS1c.99889G>C (p.Glu33297Gln)
c.80974G>C (p.Glu26992Gln)
c.80773G>C (p.Glu26925Gln)
c.80398G>C (p.Glu26800Gln)
c.107593G>C (p.Glu35865Gln)
c.102670G>C (p.Glu34224Gln)
n.446+3897C>G
n.219+3897C>G
c.106690G>C (p.Glu35564Gln)
c.80584G>C (p.Glu26862Gln)
c.80443G>C (p.Glu26815Gln)
c.106486G>C (p.Glu35496Gln)
c.101884G>C (p.Glu33962Gln)
c.101881G>C (p.Glu33961Gln)
c.98923G>C (p.Glu32975Gln)
c.80539G>C (p.Glu26847Gln)
c.102034G>C (p.Glu34012Gln)
c.102031G>C (p.Glu34011Gln)
c.101464G>C (p.Glu33822Gln)
c.98806G>C (p.Glu32936Gln)
c.98725G>C (p.Glu32909Gln)
c.80488G>C (p.Glu26830Gln)
c.70342G>C (p.Glu23448Gln)
2g.178527533C>TCA1984925TTN,TTN-AS1c.99889G>A (p.Glu33297Lys)
c.80974G>A (p.Glu26992Lys)
c.80773G>A (p.Glu26925Lys)
c.80398G>A (p.Glu26800Lys)
c.107593G>A (p.Glu35865Lys)
c.102670G>A (p.Glu34224Lys)
n.446+3897C>T
n.219+3897C>T
c.106690G>A (p.Glu35564Lys)
c.80584G>A (p.Glu26862Lys)
c.80443G>A (p.Glu26815Lys)
c.106486G>A (p.Glu35496Lys)
c.101884G>A (p.Glu33962Lys)
c.101881G>A (p.Glu33961Lys)
c.98923G>A (p.Glu32975Lys)
c.80539G>A (p.Glu26847Lys)
c.102034G>A (p.Glu34012Lys)
c.102031G>A (p.Glu34011Lys)
c.101464G>A (p.Glu33822Lys)
c.98806G>A (p.Glu32936Lys)
c.98725G>A (p.Glu32909Lys)
c.80488G>A (p.Glu26830Lys)
c.70342G>A (p.Glu23448Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527534T>ACA430234300TTN,TTN-AS1c.99888A>T (p.Val33296=)
c.80973A>T (p.Val26991=)
c.80772A>T (p.Val26924=)
c.80397A>T (p.Val26799=)
c.107592A>T (p.Val35864=)
c.102669A>T (p.Val34223=)
n.446+3898T>A
n.219+3898T>A
c.106689A>T (p.Val35563=)
c.80583A>T (p.Val26861=)
c.80442A>T (p.Val26814=)
c.106485A>T (p.Val35495=)
c.101883A>T (p.Val33961=)
c.101880A>T (p.Val33960=)
c.98922A>T (p.Val32974=)
c.80538A>T (p.Val26846=)
c.102033A>T (p.Val34011=)
c.102030A>T (p.Val34010=)
c.101463A>T (p.Val33821=)
c.98805A>T (p.Val32935=)
c.98724A>T (p.Val32908=)
c.80487A>T (p.Val26829=)
c.70341A>T (p.Val23447=)
2g.178527534T>CCA430234301TTN,TTN-AS1c.99888A>G (p.Val33296=)
c.80973A>G (p.Val26991=)
c.80772A>G (p.Val26924=)
c.80397A>G (p.Val26799=)
c.107592A>G (p.Val35864=)
c.102669A>G (p.Val34223=)
n.446+3898T>C
n.219+3898T>C
c.106689A>G (p.Val35563=)
c.80583A>G (p.Val26861=)
c.80442A>G (p.Val26814=)
c.106485A>G (p.Val35495=)
c.101883A>G (p.Val33961=)
c.101880A>G (p.Val33960=)
c.98922A>G (p.Val32974=)
c.80538A>G (p.Val26846=)
c.102033A>G (p.Val34011=)
c.102030A>G (p.Val34010=)
c.101463A>G (p.Val33821=)
c.98805A>G (p.Val32935=)
c.98724A>G (p.Val32908=)
c.80487A>G (p.Val26829=)
c.70341A>G (p.Val23447=)
2g.178527534T>GCA430234304TTN,TTN-AS1c.99888A>C (p.Val33296=)
c.80973A>C (p.Val26991=)
c.80772A>C (p.Val26924=)
c.80397A>C (p.Val26799=)
c.107592A>C (p.Val35864=)
c.102669A>C (p.Val34223=)
n.446+3898T>G
n.219+3898T>G
c.106689A>C (p.Val35563=)
c.80583A>C (p.Val26861=)
c.80442A>C (p.Val26814=)
c.106485A>C (p.Val35495=)
c.101883A>C (p.Val33961=)
c.101880A>C (p.Val33960=)
c.98922A>C (p.Val32974=)
c.80538A>C (p.Val26846=)
c.102033A>C (p.Val34011=)
c.102030A>C (p.Val34010=)
c.101463A>C (p.Val33821=)
c.98805A>C (p.Val32935=)
c.98724A>C (p.Val32908=)
c.80487A>C (p.Val26829=)
c.70341A>C (p.Val23447=)
2g.178527535A=CA1310508175TTN,TTN-AS1c.99887T= (p.Val33296=)
c.80972T= (p.Val26991=)
c.80771T= (p.Val26924=)
c.80396T= (p.Val26799=)
c.107591T= (p.Val35864=)
c.102668T= (p.Val34223=)
n.446+3899A=
n.219+3899A=
c.106688T= (p.Val35563=)
c.80582T= (p.Val26861=)
c.80441T= (p.Val26814=)
c.106484T= (p.Val35495=)
c.101882T= (p.Val33961=)
c.101879T= (p.Val33960=)
c.98921T= (p.Val32974=)
c.80537T= (p.Val26846=)
c.102032T= (p.Val34011=)
c.102029T= (p.Val34010=)
c.101462T= (p.Val33821=)
c.98804T= (p.Val32935=)
c.98723T= (p.Val32908=)
c.80486T= (p.Val26829=)
c.70340T= (p.Val23447=)
2g.178527535A>CCA349400022TTN,TTN-AS1c.99887T>G (p.Val33296Gly)
c.80972T>G (p.Val26991Gly)
c.80771T>G (p.Val26924Gly)
c.80396T>G (p.Val26799Gly)
c.107591T>G (p.Val35864Gly)
c.102668T>G (p.Val34223Gly)
n.446+3899A>C
n.219+3899A>C
c.106688T>G (p.Val35563Gly)
c.80582T>G (p.Val26861Gly)
c.80441T>G (p.Val26814Gly)
c.106484T>G (p.Val35495Gly)
c.101882T>G (p.Val33961Gly)
c.101879T>G (p.Val33960Gly)
c.98921T>G (p.Val32974Gly)
c.80537T>G (p.Val26846Gly)
c.102032T>G (p.Val34011Gly)
c.102029T>G (p.Val34010Gly)
c.101462T>G (p.Val33821Gly)
c.98804T>G (p.Val32935Gly)
c.98723T>G (p.Val32908Gly)
c.80486T>G (p.Val26829Gly)
c.70340T>G (p.Val23447Gly)
2g.178527535A>GCA302948TTN,TTN-AS1c.99887T>C (p.Val33296Ala)
c.80972T>C (p.Val26991Ala)
c.80771T>C (p.Val26924Ala)
c.80396T>C (p.Val26799Ala)
c.107591T>C (p.Val35864Ala)
c.102668T>C (p.Val34223Ala)
n.446+3899A>G
n.219+3899A>G
c.106688T>C (p.Val35563Ala)
c.80582T>C (p.Val26861Ala)
c.80441T>C (p.Val26814Ala)
c.106484T>C (p.Val35495Ala)
c.101882T>C (p.Val33961Ala)
c.101879T>C (p.Val33960Ala)
c.98921T>C (p.Val32974Ala)
c.80537T>C (p.Val26846Ala)
c.102032T>C (p.Val34011Ala)
c.102029T>C (p.Val34010Ala)
c.101462T>C (p.Val33821Ala)
c.98804T>C (p.Val32935Ala)
c.98723T>C (p.Val32908Ala)
c.80486T>C (p.Val26829Ala)
c.70340T>C (p.Val23447Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527535A>TCA349400023TTN,TTN-AS1c.99887T>A (p.Val33296Glu)
c.80972T>A (p.Val26991Glu)
c.80771T>A (p.Val26924Glu)
c.80396T>A (p.Val26799Glu)
c.107591T>A (p.Val35864Glu)
c.102668T>A (p.Val34223Glu)
n.446+3899A>T
n.219+3899A>T
c.106688T>A (p.Val35563Glu)
c.80582T>A (p.Val26861Glu)
c.80441T>A (p.Val26814Glu)
c.106484T>A (p.Val35495Glu)
c.101882T>A (p.Val33961Glu)
c.101879T>A (p.Val33960Glu)
c.98921T>A (p.Val32974Glu)
c.80537T>A (p.Val26846Glu)
c.102032T>A (p.Val34011Glu)
c.102029T>A (p.Val34010Glu)
c.101462T>A (p.Val33821Glu)
c.98804T>A (p.Val32935Glu)
c.98723T>A (p.Val32908Glu)
c.80486T>A (p.Val26829Glu)
c.70340T>A (p.Val23447Glu)
2g.178527536C>ACA349400024TTN,TTN-AS1c.99886G>T (p.Val33296Leu)
c.80971G>T (p.Val26991Leu)
c.80770G>T (p.Val26924Leu)
c.80395G>T (p.Val26799Leu)
c.107590G>T (p.Val35864Leu)
c.102667G>T (p.Val34223Leu)
n.446+3900C>A
n.219+3900C>A
c.106687G>T (p.Val35563Leu)
c.80581G>T (p.Val26861Leu)
c.80440G>T (p.Val26814Leu)
c.106483G>T (p.Val35495Leu)
c.101881G>T (p.Val33961Leu)
c.101878G>T (p.Val33960Leu)
c.98920G>T (p.Val32974Leu)
c.80536G>T (p.Val26846Leu)
c.102031G>T (p.Val34011Leu)
c.102028G>T (p.Val34010Leu)
c.101461G>T (p.Val33821Leu)
c.98803G>T (p.Val32935Leu)
c.98722G>T (p.Val32908Leu)
c.80485G>T (p.Val26829Leu)
c.70339G>T (p.Val23447Leu)
2g.178527536C=CA1310508184TTN,TTN-AS1c.99886G= (p.Val33296=)
c.80971G= (p.Val26991=)
c.80770G= (p.Val26924=)
c.80395G= (p.Val26799=)
c.107590G= (p.Val35864=)
c.102667G= (p.Val34223=)
n.446+3900C=
n.219+3900C=
c.106687G= (p.Val35563=)
c.80581G= (p.Val26861=)
c.80440G= (p.Val26814=)
c.106483G= (p.Val35495=)
c.101881G= (p.Val33961=)
c.101878G= (p.Val33960=)
c.98920G= (p.Val32974=)
c.80536G= (p.Val26846=)
c.102031G= (p.Val34011=)
c.102028G= (p.Val34010=)
c.101461G= (p.Val33821=)
c.98803G= (p.Val32935=)
c.98722G= (p.Val32908=)
c.80485G= (p.Val26829=)
c.70339G= (p.Val23447=)
2g.178527536C>GCA1984926TTN,TTN-AS1c.99886G>C (p.Val33296Leu)
c.80971G>C (p.Val26991Leu)
c.80770G>C (p.Val26924Leu)
c.80395G>C (p.Val26799Leu)
c.107590G>C (p.Val35864Leu)
c.102667G>C (p.Val34223Leu)
n.446+3900C>G
n.219+3900C>G
c.106687G>C (p.Val35563Leu)
c.80581G>C (p.Val26861Leu)
c.80440G>C (p.Val26814Leu)
c.106483G>C (p.Val35495Leu)
c.101881G>C (p.Val33961Leu)
c.101878G>C (p.Val33960Leu)
c.98920G>C (p.Val32974Leu)
c.80536G>C (p.Val26846Leu)
c.102031G>C (p.Val34011Leu)
c.102028G>C (p.Val34010Leu)
c.101461G>C (p.Val33821Leu)
c.98803G>C (p.Val32935Leu)
c.98722G>C (p.Val32908Leu)
c.80485G>C (p.Val26829Leu)
c.70339G>C (p.Val23447Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527536C>TCA349400025TTN,TTN-AS1c.99886G>A (p.Val33296Ile)
c.80971G>A (p.Val26991Ile)
c.80770G>A (p.Val26924Ile)
c.80395G>A (p.Val26799Ile)
c.107590G>A (p.Val35864Ile)
c.102667G>A (p.Val34223Ile)
n.446+3900C>T
n.219+3900C>T
c.106687G>A (p.Val35563Ile)
c.80581G>A (p.Val26861Ile)
c.80440G>A (p.Val26814Ile)
c.106483G>A (p.Val35495Ile)
c.101881G>A (p.Val33961Ile)
c.101878G>A (p.Val33960Ile)
c.98920G>A (p.Val32974Ile)
c.80536G>A (p.Val26846Ile)
c.102031G>A (p.Val34011Ile)
c.102028G>A (p.Val34010Ile)
c.101461G>A (p.Val33821Ile)
c.98803G>A (p.Val32935Ile)
c.98722G>A (p.Val32908Ile)
c.80485G>A (p.Val26829Ile)
c.70339G>A (p.Val23447Ile)
2g.178527537A>CCA349400026TTN,TTN-AS1c.99885T>G (p.Phe33295Leu)
c.80970T>G (p.Phe26990Leu)
c.80769T>G (p.Phe26923Leu)
c.80394T>G (p.Phe26798Leu)
c.107589T>G (p.Phe35863Leu)
c.102666T>G (p.Phe34222Leu)
n.446+3901A>C
n.219+3901A>C
c.106686T>G (p.Phe35562Leu)
c.80580T>G (p.Phe26860Leu)
c.80439T>G (p.Phe26813Leu)
c.106482T>G (p.Phe35494Leu)
c.101880T>G (p.Phe33960Leu)
c.101877T>G (p.Phe33959Leu)
c.98919T>G (p.Phe32973Leu)
c.80535T>G (p.Phe26845Leu)
c.102030T>G (p.Phe34010Leu)
c.102027T>G (p.Phe34009Leu)
c.101460T>G (p.Phe33820Leu)
c.98802T>G (p.Phe32934Leu)
c.98721T>G (p.Phe32907Leu)
c.80484T>G (p.Phe26828Leu)
c.70338T>G (p.Phe23446Leu)
2g.178527537A>GCA430234316TTN,TTN-AS1c.99885T>C (p.Phe33295=)
c.80970T>C (p.Phe26990=)
c.80769T>C (p.Phe26923=)
c.80394T>C (p.Phe26798=)
c.107589T>C (p.Phe35863=)
c.102666T>C (p.Phe34222=)
n.446+3901A>G
n.219+3901A>G
c.106686T>C (p.Phe35562=)
c.80580T>C (p.Phe26860=)
c.80439T>C (p.Phe26813=)
c.106482T>C (p.Phe35494=)
c.101880T>C (p.Phe33960=)
c.101877T>C (p.Phe33959=)
c.98919T>C (p.Phe32973=)
c.80535T>C (p.Phe26845=)
c.102030T>C (p.Phe34010=)
c.102027T>C (p.Phe34009=)
c.101460T>C (p.Phe33820=)
c.98802T>C (p.Phe32934=)
c.98721T>C (p.Phe32907=)
c.80484T>C (p.Phe26828=)
c.70338T>C (p.Phe23446=)
2g.178527537A>TCA349400027TTN,TTN-AS1c.99885T>A (p.Phe33295Leu)
c.80970T>A (p.Phe26990Leu)
c.80769T>A (p.Phe26923Leu)
c.80394T>A (p.Phe26798Leu)
c.107589T>A (p.Phe35863Leu)
c.102666T>A (p.Phe34222Leu)
n.446+3901A>T
n.219+3901A>T
c.106686T>A (p.Phe35562Leu)
c.80580T>A (p.Phe26860Leu)
c.80439T>A (p.Phe26813Leu)
c.106482T>A (p.Phe35494Leu)
c.101880T>A (p.Phe33960Leu)
c.101877T>A (p.Phe33959Leu)
c.98919T>A (p.Phe32973Leu)
c.80535T>A (p.Phe26845Leu)
c.102030T>A (p.Phe34010Leu)
c.102027T>A (p.Phe34009Leu)
c.101460T>A (p.Phe33820Leu)
c.98802T>A (p.Phe32934Leu)
c.98721T>A (p.Phe32907Leu)
c.80484T>A (p.Phe26828Leu)
c.70338T>A (p.Phe23446Leu)
2g.178527538A>CCA349400028TTN,TTN-AS1c.99884T>G (p.Phe33295Cys)
c.80969T>G (p.Phe26990Cys)
c.80768T>G (p.Phe26923Cys)
c.80393T>G (p.Phe26798Cys)
c.107588T>G (p.Phe35863Cys)
c.102665T>G (p.Phe34222Cys)
n.446+3902A>C
n.219+3902A>C
c.106685T>G (p.Phe35562Cys)
c.80579T>G (p.Phe26860Cys)
c.80438T>G (p.Phe26813Cys)
c.106481T>G (p.Phe35494Cys)
c.101879T>G (p.Phe33960Cys)
c.101876T>G (p.Phe33959Cys)
c.98918T>G (p.Phe32973Cys)
c.80534T>G (p.Phe26845Cys)
c.102029T>G (p.Phe34010Cys)
c.102026T>G (p.Phe34009Cys)
c.101459T>G (p.Phe33820Cys)
c.98801T>G (p.Phe32934Cys)
c.98720T>G (p.Phe32907Cys)
c.80483T>G (p.Phe26828Cys)
c.70337T>G (p.Phe23446Cys)
2g.178527538A>GCA349400029TTN,TTN-AS1c.99884T>C (p.Phe33295Ser)
c.80969T>C (p.Phe26990Ser)
c.80768T>C (p.Phe26923Ser)
c.80393T>C (p.Phe26798Ser)
c.107588T>C (p.Phe35863Ser)
c.102665T>C (p.Phe34222Ser)
n.446+3902A>G
n.219+3902A>G
c.106685T>C (p.Phe35562Ser)
c.80579T>C (p.Phe26860Ser)
c.80438T>C (p.Phe26813Ser)
c.106481T>C (p.Phe35494Ser)
c.101879T>C (p.Phe33960Ser)
c.101876T>C (p.Phe33959Ser)
c.98918T>C (p.Phe32973Ser)
c.80534T>C (p.Phe26845Ser)
c.102029T>C (p.Phe34010Ser)
c.102026T>C (p.Phe34009Ser)
c.101459T>C (p.Phe33820Ser)
c.98801T>C (p.Phe32934Ser)
c.98720T>C (p.Phe32907Ser)
c.80483T>C (p.Phe26828Ser)
c.70337T>C (p.Phe23446Ser)
2g.178527538A>TCA349400030TTN,TTN-AS1c.99884T>A (p.Phe33295Tyr)
c.80969T>A (p.Phe26990Tyr)
c.80768T>A (p.Phe26923Tyr)
c.80393T>A (p.Phe26798Tyr)
c.107588T>A (p.Phe35863Tyr)
c.102665T>A (p.Phe34222Tyr)
n.446+3902A>T
n.219+3902A>T
c.106685T>A (p.Phe35562Tyr)
c.80579T>A (p.Phe26860Tyr)
c.80438T>A (p.Phe26813Tyr)
c.106481T>A (p.Phe35494Tyr)
c.101879T>A (p.Phe33960Tyr)
c.101876T>A (p.Phe33959Tyr)
c.98918T>A (p.Phe32973Tyr)
c.80534T>A (p.Phe26845Tyr)
c.102029T>A (p.Phe34010Tyr)
c.102026T>A (p.Phe34009Tyr)
c.101459T>A (p.Phe33820Tyr)
c.98801T>A (p.Phe32934Tyr)
c.98720T>A (p.Phe32907Tyr)
c.80483T>A (p.Phe26828Tyr)
c.70337T>A (p.Phe23446Tyr)
2g.178527539A>CCA349400031TTN,TTN-AS1c.99883T>G (p.Phe33295Val)
c.80968T>G (p.Phe26990Val)
c.80767T>G (p.Phe26923Val)
c.80392T>G (p.Phe26798Val)
c.107587T>G (p.Phe35863Val)
c.102664T>G (p.Phe34222Val)
n.446+3903A>C
n.219+3903A>C
c.106684T>G (p.Phe35562Val)
c.80578T>G (p.Phe26860Val)
c.80437T>G (p.Phe26813Val)
c.106480T>G (p.Phe35494Val)
c.101878T>G (p.Phe33960Val)
c.101875T>G (p.Phe33959Val)
c.98917T>G (p.Phe32973Val)
c.80533T>G (p.Phe26845Val)
c.102028T>G (p.Phe34010Val)
c.102025T>G (p.Phe34009Val)
c.101458T>G (p.Phe33820Val)
c.98800T>G (p.Phe32934Val)
c.98719T>G (p.Phe32907Val)
c.80482T>G (p.Phe26828Val)
c.70336T>G (p.Phe23446Val)
2g.178527539A>GCA349400032TTN,TTN-AS1c.99883T>C (p.Phe33295Leu)
c.80968T>C (p.Phe26990Leu)
c.80767T>C (p.Phe26923Leu)
c.80392T>C (p.Phe26798Leu)
c.107587T>C (p.Phe35863Leu)
c.102664T>C (p.Phe34222Leu)
n.446+3903A>G
n.219+3903A>G
c.106684T>C (p.Phe35562Leu)
c.80578T>C (p.Phe26860Leu)
c.80437T>C (p.Phe26813Leu)
c.106480T>C (p.Phe35494Leu)
c.101878T>C (p.Phe33960Leu)
c.101875T>C (p.Phe33959Leu)
c.98917T>C (p.Phe32973Leu)
c.80533T>C (p.Phe26845Leu)
c.102028T>C (p.Phe34010Leu)
c.102025T>C (p.Phe34009Leu)
c.101458T>C (p.Phe33820Leu)
c.98800T>C (p.Phe32934Leu)
c.98719T>C (p.Phe32907Leu)
c.80482T>C (p.Phe26828Leu)
c.70336T>C (p.Phe23446Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178527539A>TCA349400033TTN,TTN-AS1c.99883T>A (p.Phe33295Ile)
c.80968T>A (p.Phe26990Ile)
c.80767T>A (p.Phe26923Ile)
c.80392T>A (p.Phe26798Ile)
c.107587T>A (p.Phe35863Ile)
c.102664T>A (p.Phe34222Ile)
n.446+3903A>T
n.219+3903A>T
c.106684T>A (p.Phe35562Ile)
c.80578T>A (p.Phe26860Ile)
c.80437T>A (p.Phe26813Ile)
c.106480T>A (p.Phe35494Ile)
c.101878T>A (p.Phe33960Ile)
c.101875T>A (p.Phe33959Ile)
c.98917T>A (p.Phe32973Ile)
c.80533T>A (p.Phe26845Ile)
c.102028T>A (p.Phe34010Ile)
c.102025T>A (p.Phe34009Ile)
c.101458T>A (p.Phe33820Ile)
c.98800T>A (p.Phe32934Ile)
c.98719T>A (p.Phe32907Ile)
c.80482T>A (p.Phe26828Ile)
c.70336T>A (p.Phe23446Ile)
2g.178527540G>ACA430234319TTN,TTN-AS1c.99882C>T (p.Ser33294=)
c.80967C>T (p.Ser26989=)
c.80766C>T (p.Ser26922=)
c.80391C>T (p.Ser26797=)
c.107586C>T (p.Ser35862=)
c.102663C>T (p.Ser34221=)
n.446+3904G>A
n.219+3904G>A
c.106683C>T (p.Ser35561=)
c.80577C>T (p.Ser26859=)
c.80436C>T (p.Ser26812=)
c.106479C>T (p.Ser35493=)
c.101877C>T (p.Ser33959=)
c.101874C>T (p.Ser33958=)
c.98916C>T (p.Ser32972=)
c.80532C>T (p.Ser26844=)
c.102027C>T (p.Ser34009=)
c.102024C>T (p.Ser34008=)
c.101457C>T (p.Ser33819=)
c.98799C>T (p.Ser32933=)
c.98718C>T (p.Ser32906=)
c.80481C>T (p.Ser26827=)
c.70335C>T (p.Ser23445=)
 gnomAD v4
2g.178527540G>CCA430234320TTN,TTN-AS1c.99882C>G (p.Ser33294=)
c.80967C>G (p.Ser26989=)
c.80766C>G (p.Ser26922=)
c.80391C>G (p.Ser26797=)
c.107586C>G (p.Ser35862=)
c.102663C>G (p.Ser34221=)
n.446+3904G>C
n.219+3904G>C
c.106683C>G (p.Ser35561=)
c.80577C>G (p.Ser26859=)
c.80436C>G (p.Ser26812=)
c.106479C>G (p.Ser35493=)
c.101877C>G (p.Ser33959=)
c.101874C>G (p.Ser33958=)
c.98916C>G (p.Ser32972=)
c.80532C>G (p.Ser26844=)
c.102027C>G (p.Ser34009=)
c.102024C>G (p.Ser34008=)
c.101457C>G (p.Ser33819=)
c.98799C>G (p.Ser32933=)
c.98718C>G (p.Ser32906=)
c.80481C>G (p.Ser26827=)
c.70335C>G (p.Ser23445=)
2g.178527540G>TCA430234322TTN,TTN-AS1c.99882C>A (p.Ser33294=)
c.80967C>A (p.Ser26989=)
c.80766C>A (p.Ser26922=)
c.80391C>A (p.Ser26797=)
c.107586C>A (p.Ser35862=)
c.102663C>A (p.Ser34221=)
n.446+3904G>T
n.219+3904G>T
c.106683C>A (p.Ser35561=)
c.80577C>A (p.Ser26859=)
c.80436C>A (p.Ser26812=)
c.106479C>A (p.Ser35493=)
c.101877C>A (p.Ser33959=)
c.101874C>A (p.Ser33958=)
c.98916C>A (p.Ser32972=)
c.80532C>A (p.Ser26844=)
c.102027C>A (p.Ser34009=)
c.102024C>A (p.Ser34008=)
c.101457C>A (p.Ser33819=)
c.98799C>A (p.Ser32933=)
c.98718C>A (p.Ser32906=)
c.80481C>A (p.Ser26827=)
c.70335C>A (p.Ser23445=)
2g.178527541G>ACA349400034TTN,TTN-AS1c.99881C>T (p.Ser33294Phe)
c.80966C>T (p.Ser26989Phe)
c.80765C>T (p.Ser26922Phe)
c.80390C>T (p.Ser26797Phe)
c.107585C>T (p.Ser35862Phe)
c.102662C>T (p.Ser34221Phe)
n.446+3905G>A
n.219+3905G>A
c.106682C>T (p.Ser35561Phe)
c.80576C>T (p.Ser26859Phe)
c.80435C>T (p.Ser26812Phe)
c.106478C>T (p.Ser35493Phe)
c.101876C>T (p.Ser33959Phe)
c.101873C>T (p.Ser33958Phe)
c.98915C>T (p.Ser32972Phe)
c.80531C>T (p.Ser26844Phe)
c.102026C>T (p.Ser34009Phe)
c.102023C>T (p.Ser34008Phe)
c.101456C>T (p.Ser33819Phe)
c.98798C>T (p.Ser32933Phe)
c.98717C>T (p.Ser32906Phe)
c.80480C>T (p.Ser26827Phe)
c.70334C>T (p.Ser23445Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178527541G>CCA349400035TTN,TTN-AS1c.99881C>G (p.Ser33294Cys)
c.80966C>G (p.Ser26989Cys)
c.80765C>G (p.Ser26922Cys)
c.80390C>G (p.Ser26797Cys)
c.107585C>G (p.Ser35862Cys)
c.102662C>G (p.Ser34221Cys)
n.446+3905G>C
n.219+3905G>C
c.106682C>G (p.Ser35561Cys)
c.80576C>G (p.Ser26859Cys)
c.80435C>G (p.Ser26812Cys)
c.106478C>G (p.Ser35493Cys)
c.101876C>G (p.Ser33959Cys)
c.101873C>G (p.Ser33958Cys)
c.98915C>G (p.Ser32972Cys)
c.80531C>G (p.Ser26844Cys)
c.102026C>G (p.Ser34009Cys)
c.102023C>G (p.Ser34008Cys)
c.101456C>G (p.Ser33819Cys)
c.98798C>G (p.Ser32933Cys)
c.98717C>G (p.Ser32906Cys)
c.80480C>G (p.Ser26827Cys)
c.70334C>G (p.Ser23445Cys)
2g.178527541G=CA1310508189TTN,TTN-AS1c.99881C= (p.Ser33294=)
c.80966C= (p.Ser26989=)
c.80765C= (p.Ser26922=)
c.80390C= (p.Ser26797=)
c.107585C= (p.Ser35862=)
c.102662C= (p.Ser34221=)
n.446+3905G=
n.219+3905G=
c.106682C= (p.Ser35561=)
c.80576C= (p.Ser26859=)
c.80435C= (p.Ser26812=)
c.106478C= (p.Ser35493=)
c.101876C= (p.Ser33959=)
c.101873C= (p.Ser33958=)
c.98915C= (p.Ser32972=)
c.80531C= (p.Ser26844=)
c.102026C= (p.Ser34009=)
c.102023C= (p.Ser34008=)
c.101456C= (p.Ser33819=)
c.98798C= (p.Ser32933=)
c.98717C= (p.Ser32906=)
c.80480C= (p.Ser26827=)
c.70334C= (p.Ser23445=)
2g.178527541G>TCA349400036TTN,TTN-AS1c.99881C>A (p.Ser33294Tyr)
c.80966C>A (p.Ser26989Tyr)
c.80765C>A (p.Ser26922Tyr)
c.80390C>A (p.Ser26797Tyr)
c.107585C>A (p.Ser35862Tyr)
c.102662C>A (p.Ser34221Tyr)
n.446+3905G>T
n.219+3905G>T
c.106682C>A (p.Ser35561Tyr)
c.80576C>A (p.Ser26859Tyr)
c.80435C>A (p.Ser26812Tyr)
c.106478C>A (p.Ser35493Tyr)
c.101876C>A (p.Ser33959Tyr)
c.101873C>A (p.Ser33958Tyr)
c.98915C>A (p.Ser32972Tyr)
c.80531C>A (p.Ser26844Tyr)
c.102026C>A (p.Ser34009Tyr)
c.102023C>A (p.Ser34008Tyr)
c.101456C>A (p.Ser33819Tyr)
c.98798C>A (p.Ser32933Tyr)
c.98717C>A (p.Ser32906Tyr)
c.80480C>A (p.Ser26827Tyr)
c.70334C>A (p.Ser23445Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.178527542A>CCA349400037TTN,TTN-AS1c.99880T>G (p.Ser33294Ala)
c.80965T>G (p.Ser26989Ala)
c.80764T>G (p.Ser26922Ala)
c.80389T>G (p.Ser26797Ala)
c.107584T>G (p.Ser35862Ala)
c.102661T>G (p.Ser34221Ala)
n.446+3906A>C
n.219+3906A>C
c.106681T>G (p.Ser35561Ala)
c.80575T>G (p.Ser26859Ala)
c.80434T>G (p.Ser26812Ala)
c.106477T>G (p.Ser35493Ala)
c.101875T>G (p.Ser33959Ala)
c.101872T>G (p.Ser33958Ala)
c.98914T>G (p.Ser32972Ala)
c.80530T>G (p.Ser26844Ala)
c.102025T>G (p.Ser34009Ala)
c.102022T>G (p.Ser34008Ala)
c.101455T>G (p.Ser33819Ala)
c.98797T>G (p.Ser32933Ala)
c.98716T>G (p.Ser32906Ala)
c.80479T>G (p.Ser26827Ala)
c.70333T>G (p.Ser23445Ala)
2g.178527542A>GCA349400038TTN,TTN-AS1c.99880T>C (p.Ser33294Pro)
c.80965T>C (p.Ser26989Pro)
c.80764T>C (p.Ser26922Pro)
c.80389T>C (p.Ser26797Pro)
c.107584T>C (p.Ser35862Pro)
c.102661T>C (p.Ser34221Pro)
n.446+3906A>G
n.219+3906A>G
c.106681T>C (p.Ser35561Pro)
c.80575T>C (p.Ser26859Pro)
c.80434T>C (p.Ser26812Pro)
c.106477T>C (p.Ser35493Pro)
c.101875T>C (p.Ser33959Pro)
c.101872T>C (p.Ser33958Pro)
c.98914T>C (p.Ser32972Pro)
c.80530T>C (p.Ser26844Pro)
c.102025T>C (p.Ser34009Pro)
c.102022T>C (p.Ser34008Pro)
c.101455T>C (p.Ser33819Pro)
c.98797T>C (p.Ser32933Pro)
c.98716T>C (p.Ser32906Pro)
c.80479T>C (p.Ser26827Pro)
c.70333T>C (p.Ser23445Pro)
2g.178527542A>TCA349400039TTN,TTN-AS1c.99880T>A (p.Ser33294Thr)
c.80965T>A (p.Ser26989Thr)
c.80764T>A (p.Ser26922Thr)
c.80389T>A (p.Ser26797Thr)
c.107584T>A (p.Ser35862Thr)
c.102661T>A (p.Ser34221Thr)
n.446+3906A>T
n.219+3906A>T
c.106681T>A (p.Ser35561Thr)
c.80575T>A (p.Ser26859Thr)
c.80434T>A (p.Ser26812Thr)
c.106477T>A (p.Ser35493Thr)
c.101875T>A (p.Ser33959Thr)
c.101872T>A (p.Ser33958Thr)
c.98914T>A (p.Ser32972Thr)
c.80530T>A (p.Ser26844Thr)
c.102025T>A (p.Ser34009Thr)
c.102022T>A (p.Ser34008Thr)
c.101455T>A (p.Ser33819Thr)
c.98797T>A (p.Ser32933Thr)
c.98716T>A (p.Ser32906Thr)
c.80479T>A (p.Ser26827Thr)
c.70333T>A (p.Ser23445Thr)
2g.178527542_178527548delinsACTCTTGCA1310508193TTN,TTN-AS1c.99874_99880delinsCAAGAGT (p.Gln33292=)
c.80959_80965delinsCAAGAGT (p.Gln26987=)
c.80758_80764delinsCAAGAGT (p.Gln26920=)
c.80383_80389delinsCAAGAGT (p.Gln26795=)
c.107578_107584delinsCAAGAGT (p.Gln35860=)
c.102655_102661delinsCAAGAGT (p.Gln34219=)
n.446+3906_446+3912delinsACTCTTG
n.219+3906_219+3912delinsACTCTTG
c.106675_106681delinsCAAGAGT (p.Gln35559=)
c.80569_80575delinsCAAGAGT (p.Gln26857=)
c.80428_80434delinsCAAGAGT (p.Gln26810=)
c.106471_106477delinsCAAGAGT (p.Gln35491=)
c.101869_101875delinsCAAGAGT (p.Gln33957=)
c.101866_101872delinsCAAGAGT (p.Gln33956=)
c.98908_98914delinsCAAGAGT (p.Gln32970=)
c.80524_80530delinsCAAGAGT (p.Gln26842=)
c.102019_102025delinsCAAGAGT (p.Gln34007=)
c.102016_102022delinsCAAGAGT (p.Gln34006=)
c.101449_101455delinsCAAGAGT (p.Gln33817=)
c.98791_98797delinsCAAGAGT (p.Gln32931=)
c.98710_98716delinsCAAGAGT (p.Gln32904=)
c.80473_80479delinsCAAGAGT (p.Gln26825=)
c.70327_70333delinsCAAGAGT (p.Gln23443=)
2g.178527543C>ACA349400040TTN,TTN-AS1c.99879G>T (p.Glu33293Asp)
c.80964G>T (p.Glu26988Asp)
c.80763G>T (p.Glu26921Asp)
c.80388G>T (p.Glu26796Asp)
c.107583G>T (p.Glu35861Asp)
c.102660G>T (p.Glu34220Asp)
n.446+3907C>A
n.219+3907C>A
c.106680G>T (p.Glu35560Asp)
c.80574G>T (p.Glu26858Asp)
c.80433G>T (p.Glu26811Asp)
c.106476G>T (p.Glu35492Asp)
c.101874G>T (p.Glu33958Asp)
c.101871G>T (p.Glu33957Asp)
c.98913G>T (p.Glu32971Asp)
c.80529G>T (p.Glu26843Asp)
c.102024G>T (p.Glu34008Asp)
c.102021G>T (p.Glu34007Asp)
c.101454G>T (p.Glu33818Asp)
c.98796G>T (p.Glu32932Asp)
c.98715G>T (p.Glu32905Asp)
c.80478G>T (p.Glu26826Asp)
c.70332G>T (p.Glu23444Asp)
2g.178527543C=CA1310508196TTN,TTN-AS1c.99879G= (p.Glu33293=)
c.80964G= (p.Glu26988=)
c.80763G= (p.Glu26921=)
c.80388G= (p.Glu26796=)
c.107583G= (p.Glu35861=)
c.102660G= (p.Glu34220=)
n.446+3907C=
n.219+3907C=
c.106680G= (p.Glu35560=)
c.80574G= (p.Glu26858=)
c.80433G= (p.Glu26811=)
c.106476G= (p.Glu35492=)
c.101874G= (p.Glu33958=)
c.101871G= (p.Glu33957=)
c.98913G= (p.Glu32971=)
c.80529G= (p.Glu26843=)
c.102024G= (p.Glu34008=)
c.102021G= (p.Glu34007=)
c.101454G= (p.Glu33818=)
c.98796G= (p.Glu32932=)
c.98715G= (p.Glu32905=)
c.80478G= (p.Glu26826=)
c.70332G= (p.Glu23444=)
2g.178527543C>GCA349400041TTN,TTN-AS1c.99879G>C (p.Glu33293Asp)
c.80964G>C (p.Glu26988Asp)
c.80763G>C (p.Glu26921Asp)
c.80388G>C (p.Glu26796Asp)
c.107583G>C (p.Glu35861Asp)
c.102660G>C (p.Glu34220Asp)
n.446+3907C>G
n.219+3907C>G
c.106680G>C (p.Glu35560Asp)
c.80574G>C (p.Glu26858Asp)
c.80433G>C (p.Glu26811Asp)
c.106476G>C (p.Glu35492Asp)
c.101874G>C (p.Glu33958Asp)
c.101871G>C (p.Glu33957Asp)
c.98913G>C (p.Glu32971Asp)
c.80529G>C (p.Glu26843Asp)
c.102024G>C (p.Glu34008Asp)
c.102021G>C (p.Glu34007Asp)
c.101454G>C (p.Glu33818Asp)
c.98796G>C (p.Glu32932Asp)
c.98715G>C (p.Glu32905Asp)
c.80478G>C (p.Glu26826Asp)
c.70332G>C (p.Glu23444Asp)
2g.178527543C>TCA430234330TTN,TTN-AS1c.99879G>A (p.Glu33293=)
c.80964G>A (p.Glu26988=)
c.80763G>A (p.Glu26921=)
c.80388G>A (p.Glu26796=)
c.107583G>A (p.Glu35861=)
c.102660G>A (p.Glu34220=)
n.446+3907C>T
n.219+3907C>T
c.106680G>A (p.Glu35560=)
c.80574G>A (p.Glu26858=)
c.80433G>A (p.Glu26811=)
c.106476G>A (p.Glu35492=)
c.101874G>A (p.Glu33958=)
c.101871G>A (p.Glu33957=)
c.98913G>A (p.Glu32971=)
c.80529G>A (p.Glu26843=)
c.102024G>A (p.Glu34008=)
c.102021G>A (p.Glu34007=)
c.101454G>A (p.Glu33818=)
c.98796G>A (p.Glu32932=)
c.98715G>A (p.Glu32905=)
c.80478G>A (p.Glu26826=)
c.70332G>A (p.Glu23444=)
 ClinVar dbSNP gnomAD v4
2g.178527544_178527549delCA1984927TTN,TTN-AS1c.99874_99879del (p.Gln33292_Glu33293del)
c.80959_80964del (p.Gln26987_Glu26988del)
c.80758_80763del (p.Gln26920_Glu26921del)
c.80383_80388del (p.Gln26795_Glu26796del)
c.107578_107583del (p.Gln35860_Glu35861del)
c.102655_102660del (p.Gln34219_Glu34220del)
n.446+3908_446+3913del
n.219+3908_219+3913del
c.106675_106680del (p.Gln35559_Glu35560del)
c.80569_80574del (p.Gln26857_Glu26858del)
c.80428_80433del (p.Gln26810_Glu26811del)
c.106471_106476del (p.Gln35491_Glu35492del)
c.101869_101874del (p.Gln33957_Glu33958del)
c.101866_101871del (p.Gln33956_Glu33957del)
c.98908_98913del (p.Gln32970_Glu32971del)
c.80524_80529del (p.Gln26842_Glu26843del)
c.102019_102024del (p.Gln34007_Glu34008del)
c.102016_102021del (p.Gln34006_Glu34007del)
c.101449_101454del (p.Gln33817_Glu33818del)
c.98791_98796del (p.Gln32931_Glu32932del)
c.98710_98715del (p.Gln32904_Glu32905del)
c.80473_80478del (p.Gln26825_Glu26826del)
c.70327_70332del (p.Gln23443_Glu23444del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527544T>ACA349400043TTN,TTN-AS1c.99878A>T (p.Glu33293Val)
c.80963A>T (p.Glu26988Val)
c.80762A>T (p.Glu26921Val)
c.80387A>T (p.Glu26796Val)
c.107582A>T (p.Glu35861Val)
c.102659A>T (p.Glu34220Val)
n.446+3908T>A
n.219+3908T>A
c.106679A>T (p.Glu35560Val)
c.80573A>T (p.Glu26858Val)
c.80432A>T (p.Glu26811Val)
c.106475A>T (p.Glu35492Val)
c.101873A>T (p.Glu33958Val)
c.101870A>T (p.Glu33957Val)
c.98912A>T (p.Glu32971Val)
c.80528A>T (p.Glu26843Val)
c.102023A>T (p.Glu34008Val)
c.102020A>T (p.Glu34007Val)
c.101453A>T (p.Glu33818Val)
c.98795A>T (p.Glu32932Val)
c.98714A>T (p.Glu32905Val)
c.80477A>T (p.Glu26826Val)
c.70331A>T (p.Glu23444Val)
2g.178527544T>CCA349400045TTN,TTN-AS1c.99878A>G (p.Glu33293Gly)
c.80963A>G (p.Glu26988Gly)
c.80762A>G (p.Glu26921Gly)
c.80387A>G (p.Glu26796Gly)
c.107582A>G (p.Glu35861Gly)
c.102659A>G (p.Glu34220Gly)
n.446+3908T>C
n.219+3908T>C
c.106679A>G (p.Glu35560Gly)
c.80573A>G (p.Glu26858Gly)
c.80432A>G (p.Glu26811Gly)
c.106475A>G (p.Glu35492Gly)
c.101873A>G (p.Glu33958Gly)
c.101870A>G (p.Glu33957Gly)
c.98912A>G (p.Glu32971Gly)
c.80528A>G (p.Glu26843Gly)
c.102023A>G (p.Glu34008Gly)
c.102020A>G (p.Glu34007Gly)
c.101453A>G (p.Glu33818Gly)
c.98795A>G (p.Glu32932Gly)
c.98714A>G (p.Glu32905Gly)
c.80477A>G (p.Glu26826Gly)
c.70331A>G (p.Glu23444Gly)
2g.178527544T>GCA349400044TTN,TTN-AS1c.99878A>C (p.Glu33293Ala)
c.80963A>C (p.Glu26988Ala)
c.80762A>C (p.Glu26921Ala)
c.80387A>C (p.Glu26796Ala)
c.107582A>C (p.Glu35861Ala)
c.102659A>C (p.Glu34220Ala)
n.446+3908T>G
n.219+3908T>G
c.106679A>C (p.Glu35560Ala)
c.80573A>C (p.Glu26858Ala)
c.80432A>C (p.Glu26811Ala)
c.106475A>C (p.Glu35492Ala)
c.101873A>C (p.Glu33958Ala)
c.101870A>C (p.Glu33957Ala)
c.98912A>C (p.Glu32971Ala)
c.80528A>C (p.Glu26843Ala)
c.102023A>C (p.Glu34008Ala)
c.102020A>C (p.Glu34007Ala)
c.101453A>C (p.Glu33818Ala)
c.98795A>C (p.Glu32932Ala)
c.98714A>C (p.Glu32905Ala)
c.80477A>C (p.Glu26826Ala)
c.70331A>C (p.Glu23444Ala)
2g.178527545C>ACA349400046TTN,TTN-AS1c.99877G>T (p.Glu33293Ter)
c.80962G>T (p.Glu26988Ter)
c.80761G>T (p.Glu26921Ter)
c.80386G>T (p.Glu26796Ter)
c.107581G>T (p.Glu35861Ter)
c.102658G>T (p.Glu34220Ter)
n.446+3909C>A
n.219+3909C>A
c.106678G>T (p.Glu35560Ter)
c.80572G>T (p.Glu26858Ter)
c.80431G>T (p.Glu26811Ter)
c.106474G>T (p.Glu35492Ter)
c.101872G>T (p.Glu33958Ter)
c.101869G>T (p.Glu33957Ter)
c.98911G>T (p.Glu32971Ter)
c.80527G>T (p.Glu26843Ter)
c.102022G>T (p.Glu34008Ter)
c.102019G>T (p.Glu34007Ter)
c.101452G>T (p.Glu33818Ter)
c.98794G>T (p.Glu32932Ter)
c.98713G>T (p.Glu32905Ter)
c.80476G>T (p.Glu26826Ter)
c.70330G>T (p.Glu23444Ter)
2g.178527545C>GCA349400047TTN,TTN-AS1c.99877G>C (p.Glu33293Gln)
c.80962G>C (p.Glu26988Gln)
c.80761G>C (p.Glu26921Gln)
c.80386G>C (p.Glu26796Gln)
c.107581G>C (p.Glu35861Gln)
c.102658G>C (p.Glu34220Gln)
n.446+3909C>G
n.219+3909C>G
c.106678G>C (p.Glu35560Gln)
c.80572G>C (p.Glu26858Gln)
c.80431G>C (p.Glu26811Gln)
c.106474G>C (p.Glu35492Gln)
c.101872G>C (p.Glu33958Gln)
c.101869G>C (p.Glu33957Gln)
c.98911G>C (p.Glu32971Gln)
c.80527G>C (p.Glu26843Gln)
c.102022G>C (p.Glu34008Gln)
c.102019G>C (p.Glu34007Gln)
c.101452G>C (p.Glu33818Gln)
c.98794G>C (p.Glu32932Gln)
c.98713G>C (p.Glu32905Gln)
c.80476G>C (p.Glu26826Gln)
c.70330G>C (p.Glu23444Gln)
2g.178527545C>TCA349400048TTN,TTN-AS1c.99877G>A (p.Glu33293Lys)
c.80962G>A (p.Glu26988Lys)
c.80761G>A (p.Glu26921Lys)
c.80386G>A (p.Glu26796Lys)
c.107581G>A (p.Glu35861Lys)
c.102658G>A (p.Glu34220Lys)
n.446+3909C>T
n.219+3909C>T
c.106678G>A (p.Glu35560Lys)
c.80572G>A (p.Glu26858Lys)
c.80431G>A (p.Glu26811Lys)
c.106474G>A (p.Glu35492Lys)
c.101872G>A (p.Glu33958Lys)
c.101869G>A (p.Glu33957Lys)
c.98911G>A (p.Glu32971Lys)
c.80527G>A (p.Glu26843Lys)
c.102022G>A (p.Glu34008Lys)
c.102019G>A (p.Glu34007Lys)
c.101452G>A (p.Glu33818Lys)
c.98794G>A (p.Glu32932Lys)
c.98713G>A (p.Glu32905Lys)
c.80476G>A (p.Glu26826Lys)
c.70330G>A (p.Glu23444Lys)
2g.178527546T>ACA349400049TTN,TTN-AS1c.99876A>T (p.Gln33292His)
c.80961A>T (p.Gln26987His)
c.80760A>T (p.Gln26920His)
c.80385A>T (p.Gln26795His)
c.107580A>T (p.Gln35860His)
c.102657A>T (p.Gln34219His)
n.446+3910T>A
n.219+3910T>A
c.106677A>T (p.Gln35559His)
c.80571A>T (p.Gln26857His)
c.80430A>T (p.Gln26810His)
c.106473A>T (p.Gln35491His)
c.101871A>T (p.Gln33957His)
c.101868A>T (p.Gln33956His)
c.98910A>T (p.Gln32970His)
c.80526A>T (p.Gln26842His)
c.102021A>T (p.Gln34007His)
c.102018A>T (p.Gln34006His)
c.101451A>T (p.Gln33817His)
c.98793A>T (p.Gln32931His)
c.98712A>T (p.Gln32904His)
c.80475A>T (p.Gln26825His)
c.70329A>T (p.Gln23443His)
 dbSNP
2g.178527546T>CCA430234338TTN,TTN-AS1c.99876A>G (p.Gln33292=)
c.80961A>G (p.Gln26987=)
c.80760A>G (p.Gln26920=)
c.80385A>G (p.Gln26795=)
c.107580A>G (p.Gln35860=)
c.102657A>G (p.Gln34219=)
n.446+3910T>C
n.219+3910T>C
c.106677A>G (p.Gln35559=)
c.80571A>G (p.Gln26857=)
c.80430A>G (p.Gln26810=)
c.106473A>G (p.Gln35491=)
c.101871A>G (p.Gln33957=)
c.101868A>G (p.Gln33956=)
c.98910A>G (p.Gln32970=)
c.80526A>G (p.Gln26842=)
c.102021A>G (p.Gln34007=)
c.102018A>G (p.Gln34006=)
c.101451A>G (p.Gln33817=)
c.98793A>G (p.Gln32931=)
c.98712A>G (p.Gln32904=)
c.80475A>G (p.Gln26825=)
c.70329A>G (p.Gln23443=)
2g.178527546T>GCA349400050TTN,TTN-AS1c.99876A>C (p.Gln33292His)
c.80961A>C (p.Gln26987His)
c.80760A>C (p.Gln26920His)
c.80385A>C (p.Gln26795His)
c.107580A>C (p.Gln35860His)
c.102657A>C (p.Gln34219His)
n.446+3910T>G
n.219+3910T>G
c.106677A>C (p.Gln35559His)
c.80571A>C (p.Gln26857His)
c.80430A>C (p.Gln26810His)
c.106473A>C (p.Gln35491His)
c.101871A>C (p.Gln33957His)
c.101868A>C (p.Gln33956His)
c.98910A>C (p.Gln32970His)
c.80526A>C (p.Gln26842His)
c.102021A>C (p.Gln34007His)
c.102018A>C (p.Gln34006His)
c.101451A>C (p.Gln33817His)
c.98793A>C (p.Gln32931His)
c.98712A>C (p.Gln32904His)
c.80475A>C (p.Gln26825His)
c.70329A>C (p.Gln23443His)
2g.178527546T=CA1310508203TTN,TTN-AS1c.99876A= (p.Gln33292=)
c.80961A= (p.Gln26987=)
c.80760A= (p.Gln26920=)
c.80385A= (p.Gln26795=)
c.107580A= (p.Gln35860=)
c.102657A= (p.Gln34219=)
n.446+3910T=
n.219+3910T=
c.106677A= (p.Gln35559=)
c.80571A= (p.Gln26857=)
c.80430A= (p.Gln26810=)
c.106473A= (p.Gln35491=)
c.101871A= (p.Gln33957=)
c.101868A= (p.Gln33956=)
c.98910A= (p.Gln32970=)
c.80526A= (p.Gln26842=)
c.102021A= (p.Gln34007=)
c.102018A= (p.Gln34006=)
c.101451A= (p.Gln33817=)
c.98793A= (p.Gln32931=)
c.98712A= (p.Gln32904=)
c.80475A= (p.Gln26825=)
c.70329A= (p.Gln23443=)
2g.178527547T>ACA349400051TTN,TTN-AS1c.99875A>T (p.Gln33292Leu)
c.80960A>T (p.Gln26987Leu)
c.80759A>T (p.Gln26920Leu)
c.80384A>T (p.Gln26795Leu)
c.107579A>T (p.Gln35860Leu)
c.102656A>T (p.Gln34219Leu)
n.446+3911T>A
n.219+3911T>A
c.106676A>T (p.Gln35559Leu)
c.80570A>T (p.Gln26857Leu)
c.80429A>T (p.Gln26810Leu)
c.106472A>T (p.Gln35491Leu)
c.101870A>T (p.Gln33957Leu)
c.101867A>T (p.Gln33956Leu)
c.98909A>T (p.Gln32970Leu)
c.80525A>T (p.Gln26842Leu)
c.102020A>T (p.Gln34007Leu)
c.102017A>T (p.Gln34006Leu)
c.101450A>T (p.Gln33817Leu)
c.98792A>T (p.Gln32931Leu)
c.98711A>T (p.Gln32904Leu)
c.80474A>T (p.Gln26825Leu)
c.70328A>T (p.Gln23443Leu)
2g.178527547T>CCA349400052TTN,TTN-AS1c.99875A>G (p.Gln33292Arg)
c.80960A>G (p.Gln26987Arg)
c.80759A>G (p.Gln26920Arg)
c.80384A>G (p.Gln26795Arg)
c.107579A>G (p.Gln35860Arg)
c.102656A>G (p.Gln34219Arg)
n.446+3911T>C
n.219+3911T>C
c.106676A>G (p.Gln35559Arg)
c.80570A>G (p.Gln26857Arg)
c.80429A>G (p.Gln26810Arg)
c.106472A>G (p.Gln35491Arg)
c.101870A>G (p.Gln33957Arg)
c.101867A>G (p.Gln33956Arg)
c.98909A>G (p.Gln32970Arg)
c.80525A>G (p.Gln26842Arg)
c.102020A>G (p.Gln34007Arg)
c.102017A>G (p.Gln34006Arg)
c.101450A>G (p.Gln33817Arg)
c.98792A>G (p.Gln32931Arg)
c.98711A>G (p.Gln32904Arg)
c.80474A>G (p.Gln26825Arg)
c.70328A>G (p.Gln23443Arg)
2g.178527547T>GCA349400053TTN,TTN-AS1c.99875A>C (p.Gln33292Pro)
c.80960A>C (p.Gln26987Pro)
c.80759A>C (p.Gln26920Pro)
c.80384A>C (p.Gln26795Pro)
c.107579A>C (p.Gln35860Pro)
c.102656A>C (p.Gln34219Pro)
n.446+3911T>G
n.219+3911T>G
c.106676A>C (p.Gln35559Pro)
c.80570A>C (p.Gln26857Pro)
c.80429A>C (p.Gln26810Pro)
c.106472A>C (p.Gln35491Pro)
c.101870A>C (p.Gln33957Pro)
c.101867A>C (p.Gln33956Pro)
c.98909A>C (p.Gln32970Pro)
c.80525A>C (p.Gln26842Pro)
c.102020A>C (p.Gln34007Pro)
c.102017A>C (p.Gln34006Pro)
c.101450A>C (p.Gln33817Pro)
c.98792A>C (p.Gln32931Pro)
c.98711A>C (p.Gln32904Pro)
c.80474A>C (p.Gln26825Pro)
c.70328A>C (p.Gln23443Pro)
2g.178527548G>ACA60949220TTN,TTN-AS1c.99874C>T (p.Gln33292Ter)
c.80959C>T (p.Gln26987Ter)
c.80758C>T (p.Gln26920Ter)
c.80383C>T (p.Gln26795Ter)
c.107578C>T (p.Gln35860Ter)
c.102655C>T (p.Gln34219Ter)
n.446+3912G>A
n.219+3912G>A
c.106675C>T (p.Gln35559Ter)
c.80569C>T (p.Gln26857Ter)
c.80428C>T (p.Gln26810Ter)
c.106471C>T (p.Gln35491Ter)
c.101869C>T (p.Gln33957Ter)
c.101866C>T (p.Gln33956Ter)
c.98908C>T (p.Gln32970Ter)
c.80524C>T (p.Gln26842Ter)
c.102019C>T (p.Gln34007Ter)
c.102016C>T (p.Gln34006Ter)
c.101449C>T (p.Gln33817Ter)
c.98791C>T (p.Gln32931Ter)
c.98710C>T (p.Gln32904Ter)
c.80473C>T (p.Gln26825Ter)
c.70327C>T (p.Gln23443Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527548G>CCA349400054TTN,TTN-AS1c.99874C>G (p.Gln33292Glu)
c.80959C>G (p.Gln26987Glu)
c.80758C>G (p.Gln26920Glu)
c.80383C>G (p.Gln26795Glu)
c.107578C>G (p.Gln35860Glu)
c.102655C>G (p.Gln34219Glu)
n.446+3912G>C
n.219+3912G>C
c.106675C>G (p.Gln35559Glu)
c.80569C>G (p.Gln26857Glu)
c.80428C>G (p.Gln26810Glu)
c.106471C>G (p.Gln35491Glu)
c.101869C>G (p.Gln33957Glu)
c.101866C>G (p.Gln33956Glu)
c.98908C>G (p.Gln32970Glu)
c.80524C>G (p.Gln26842Glu)
c.102019C>G (p.Gln34007Glu)
c.102016C>G (p.Gln34006Glu)
c.101449C>G (p.Gln33817Glu)
c.98791C>G (p.Gln32931Glu)
c.98710C>G (p.Gln32904Glu)
c.80473C>G (p.Gln26825Glu)
c.70327C>G (p.Gln23443Glu)
2g.178527548G=CA1310508207TTN,TTN-AS1c.99874C= (p.Gln33292=)
c.80959C= (p.Gln26987=)
c.80758C= (p.Gln26920=)
c.80383C= (p.Gln26795=)
c.107578C= (p.Gln35860=)
c.102655C= (p.Gln34219=)
n.446+3912G=
n.219+3912G=
c.106675C= (p.Gln35559=)
c.80569C= (p.Gln26857=)
c.80428C= (p.Gln26810=)
c.106471C= (p.Gln35491=)
c.101869C= (p.Gln33957=)
c.101866C= (p.Gln33956=)
c.98908C= (p.Gln32970=)
c.80524C= (p.Gln26842=)
c.102019C= (p.Gln34007=)
c.102016C= (p.Gln34006=)
c.101449C= (p.Gln33817=)
c.98791C= (p.Gln32931=)
c.98710C= (p.Gln32904=)
c.80473C= (p.Gln26825=)
c.70327C= (p.Gln23443=)
2g.178527548G>TCA349400055TTN,TTN-AS1c.99874C>A (p.Gln33292Lys)
c.80959C>A (p.Gln26987Lys)
c.80758C>A (p.Gln26920Lys)
c.80383C>A (p.Gln26795Lys)
c.107578C>A (p.Gln35860Lys)
c.102655C>A (p.Gln34219Lys)
n.446+3912G>T
n.219+3912G>T
c.106675C>A (p.Gln35559Lys)
c.80569C>A (p.Gln26857Lys)
c.80428C>A (p.Gln26810Lys)
c.106471C>A (p.Gln35491Lys)
c.101869C>A (p.Gln33957Lys)
c.101866C>A (p.Gln33956Lys)
c.98908C>A (p.Gln32970Lys)
c.80524C>A (p.Gln26842Lys)
c.102019C>A (p.Gln34007Lys)
c.102016C>A (p.Gln34006Lys)
c.101449C>A (p.Gln33817Lys)
c.98791C>A (p.Gln32931Lys)
c.98710C>A (p.Gln32904Lys)
c.80473C>A (p.Gln26825Lys)
c.70327C>A (p.Gln23443Lys)
2g.178527549C>ACA349400057TTN,TTN-AS1c.99873G>T (p.Met33291Ile)
c.80958G>T (p.Met26986Ile)
c.80757G>T (p.Met26919Ile)
c.80382G>T (p.Met26794Ile)
c.107577G>T (p.Met35859Ile)
c.102654G>T (p.Met34218Ile)
n.446+3913C>A
n.219+3913C>A
c.106674G>T (p.Met35558Ile)
c.80568G>T (p.Met26856Ile)
c.80427G>T (p.Met26809Ile)
c.106470G>T (p.Met35490Ile)
c.101868G>T (p.Met33956Ile)
c.101865G>T (p.Met33955Ile)
c.98907G>T (p.Met32969Ile)
c.80523G>T (p.Met26841Ile)
c.102018G>T (p.Met34006Ile)
c.102015G>T (p.Met34005Ile)
c.101448G>T (p.Met33816Ile)
c.98790G>T (p.Met32930Ile)
c.98709G>T (p.Met32903Ile)
c.80472G>T (p.Met26824Ile)
c.70326G>T (p.Met23442Ile)
2g.178527549C=CA1310508209TTN,TTN-AS1c.99873G= (p.Met33291=)
c.80958G= (p.Met26986=)
c.80757G= (p.Met26919=)
c.80382G= (p.Met26794=)
c.107577G= (p.Met35859=)
c.102654G= (p.Met34218=)
n.446+3913C=
n.219+3913C=
c.106674G= (p.Met35558=)
c.80568G= (p.Met26856=)
c.80427G= (p.Met26809=)
c.106470G= (p.Met35490=)
c.101868G= (p.Met33956=)
c.101865G= (p.Met33955=)
c.98907G= (p.Met32969=)
c.80523G= (p.Met26841=)
c.102018G= (p.Met34006=)
c.102015G= (p.Met34005=)
c.101448G= (p.Met33816=)
c.98790G= (p.Met32930=)
c.98709G= (p.Met32903=)
c.80472G= (p.Met26824=)
c.70326G= (p.Met23442=)
2g.178527549C>GCA1984928TTN,TTN-AS1c.99873G>C (p.Met33291Ile)
c.80958G>C (p.Met26986Ile)
c.80757G>C (p.Met26919Ile)
c.80382G>C (p.Met26794Ile)
c.107577G>C (p.Met35859Ile)
c.102654G>C (p.Met34218Ile)
n.446+3913C>G
n.219+3913C>G
c.106674G>C (p.Met35558Ile)
c.80568G>C (p.Met26856Ile)
c.80427G>C (p.Met26809Ile)
c.106470G>C (p.Met35490Ile)
c.101868G>C (p.Met33956Ile)
c.101865G>C (p.Met33955Ile)
c.98907G>C (p.Met32969Ile)
c.80523G>C (p.Met26841Ile)
c.102018G>C (p.Met34006Ile)
c.102015G>C (p.Met34005Ile)
c.101448G>C (p.Met33816Ile)
c.98790G>C (p.Met32930Ile)
c.98709G>C (p.Met32903Ile)
c.80472G>C (p.Met26824Ile)
c.70326G>C (p.Met23442Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527549C>TCA349400056TTN,TTN-AS1c.99873G>A (p.Met33291Ile)
c.80958G>A (p.Met26986Ile)
c.80757G>A (p.Met26919Ile)
c.80382G>A (p.Met26794Ile)
c.107577G>A (p.Met35859Ile)
c.102654G>A (p.Met34218Ile)
n.446+3913C>T
n.219+3913C>T
c.106674G>A (p.Met35558Ile)
c.80568G>A (p.Met26856Ile)
c.80427G>A (p.Met26809Ile)
c.106470G>A (p.Met35490Ile)
c.101868G>A (p.Met33956Ile)
c.101865G>A (p.Met33955Ile)
c.98907G>A (p.Met32969Ile)
c.80523G>A (p.Met26841Ile)
c.102018G>A (p.Met34006Ile)
c.102015G>A (p.Met34005Ile)
c.101448G>A (p.Met33816Ile)
c.98790G>A (p.Met32930Ile)
c.98709G>A (p.Met32903Ile)
c.80472G>A (p.Met26824Ile)
c.70326G>A (p.Met23442Ile)
 ClinVar dbSNP gnomAD v4
2g.178527550A=CA1310508210TTN,TTN-AS1c.99872T= (p.Met33291=)
c.80957T= (p.Met26986=)
c.80756T= (p.Met26919=)
c.80381T= (p.Met26794=)
c.107576T= (p.Met35859=)
c.102653T= (p.Met34218=)
n.446+3914A=
n.219+3914A=
c.106673T= (p.Met35558=)
c.80567T= (p.Met26856=)
c.80426T= (p.Met26809=)
c.106469T= (p.Met35490=)
c.101867T= (p.Met33956=)
c.101864T= (p.Met33955=)
c.98906T= (p.Met32969=)
c.80522T= (p.Met26841=)
c.102017T= (p.Met34006=)
c.102014T= (p.Met34005=)
c.101447T= (p.Met33816=)
c.98789T= (p.Met32930=)
c.98708T= (p.Met32903=)
c.80471T= (p.Met26824=)
c.70325T= (p.Met23442=)
2g.178527550A>CCA349400058TTN,TTN-AS1c.99872T>G (p.Met33291Arg)
c.80957T>G (p.Met26986Arg)
c.80756T>G (p.Met26919Arg)
c.80381T>G (p.Met26794Arg)
c.107576T>G (p.Met35859Arg)
c.102653T>G (p.Met34218Arg)
n.446+3914A>C
n.219+3914A>C
c.106673T>G (p.Met35558Arg)
c.80567T>G (p.Met26856Arg)
c.80426T>G (p.Met26809Arg)
c.106469T>G (p.Met35490Arg)
c.101867T>G (p.Met33956Arg)
c.101864T>G (p.Met33955Arg)
c.98906T>G (p.Met32969Arg)
c.80522T>G (p.Met26841Arg)
c.102017T>G (p.Met34006Arg)
c.102014T>G (p.Met34005Arg)
c.101447T>G (p.Met33816Arg)
c.98789T>G (p.Met32930Arg)
c.98708T>G (p.Met32903Arg)
c.80471T>G (p.Met26824Arg)
c.70325T>G (p.Met23442Arg)
2g.178527550A>GCA141774TTN,TTN-AS1c.99872T>C (p.Met33291Thr)
c.80957T>C (p.Met26986Thr)
c.80756T>C (p.Met26919Thr)
c.80381T>C (p.Met26794Thr)
c.107576T>C (p.Met35859Thr)
c.102653T>C (p.Met34218Thr)
n.446+3914A>G
n.219+3914A>G
c.106673T>C (p.Met35558Thr)
c.80567T>C (p.Met26856Thr)
c.80426T>C (p.Met26809Thr)
c.106469T>C (p.Met35490Thr)
c.101867T>C (p.Met33956Thr)
c.101864T>C (p.Met33955Thr)
c.98906T>C (p.Met32969Thr)
c.80522T>C (p.Met26841Thr)
c.102017T>C (p.Met34006Thr)
c.102014T>C (p.Met34005Thr)
c.101447T>C (p.Met33816Thr)
c.98789T>C (p.Met32930Thr)
c.98708T>C (p.Met32903Thr)
c.80471T>C (p.Met26824Thr)
c.70325T>C (p.Met23442Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527550A>TCA349400059TTN,TTN-AS1c.99872T>A (p.Met33291Lys)
c.80957T>A (p.Met26986Lys)
c.80756T>A (p.Met26919Lys)
c.80381T>A (p.Met26794Lys)
c.107576T>A (p.Met35859Lys)
c.102653T>A (p.Met34218Lys)
n.446+3914A>T
n.219+3914A>T
c.106673T>A (p.Met35558Lys)
c.80567T>A (p.Met26856Lys)
c.80426T>A (p.Met26809Lys)
c.106469T>A (p.Met35490Lys)
c.101867T>A (p.Met33956Lys)
c.101864T>A (p.Met33955Lys)
c.98906T>A (p.Met32969Lys)
c.80522T>A (p.Met26841Lys)
c.102017T>A (p.Met34006Lys)
c.102014T>A (p.Met34005Lys)
c.101447T>A (p.Met33816Lys)
c.98789T>A (p.Met32930Lys)
c.98708T>A (p.Met32903Lys)
c.80471T>A (p.Met26824Lys)
c.70325T>A (p.Met23442Lys)
2g.178527551T>ACA349400060TTN,TTN-AS1c.99871A>T (p.Met33291Leu)
c.80956A>T (p.Met26986Leu)
c.80755A>T (p.Met26919Leu)
c.80380A>T (p.Met26794Leu)
c.107575A>T (p.Met35859Leu)
c.102652A>T (p.Met34218Leu)
n.446+3915T>A
n.219+3915T>A
c.106672A>T (p.Met35558Leu)
c.80566A>T (p.Met26856Leu)
c.80425A>T (p.Met26809Leu)
c.106468A>T (p.Met35490Leu)
c.101866A>T (p.Met33956Leu)
c.101863A>T (p.Met33955Leu)
c.98905A>T (p.Met32969Leu)
c.80521A>T (p.Met26841Leu)
c.102016A>T (p.Met34006Leu)
c.102013A>T (p.Met34005Leu)
c.101446A>T (p.Met33816Leu)
c.98788A>T (p.Met32930Leu)
c.98707A>T (p.Met32903Leu)
c.80470A>T (p.Met26824Leu)
c.70324A>T (p.Met23442Leu)
2g.178527551T>CCA349400061TTN,TTN-AS1c.99871A>G (p.Met33291Val)
c.80956A>G (p.Met26986Val)
c.80755A>G (p.Met26919Val)
c.80380A>G (p.Met26794Val)
c.107575A>G (p.Met35859Val)
c.102652A>G (p.Met34218Val)
n.446+3915T>C
n.219+3915T>C
c.106672A>G (p.Met35558Val)
c.80566A>G (p.Met26856Val)
c.80425A>G (p.Met26809Val)
c.106468A>G (p.Met35490Val)
c.101866A>G (p.Met33956Val)
c.101863A>G (p.Met33955Val)
c.98905A>G (p.Met32969Val)
c.80521A>G (p.Met26841Val)
c.102016A>G (p.Met34006Val)
c.102013A>G (p.Met34005Val)
c.101446A>G (p.Met33816Val)
c.98788A>G (p.Met32930Val)
c.98707A>G (p.Met32903Val)
c.80470A>G (p.Met26824Val)
c.70324A>G (p.Met23442Val)
 dbSNP
2g.178527551T>GCA349400062TTN,TTN-AS1c.99871A>C (p.Met33291Leu)
c.80956A>C (p.Met26986Leu)
c.80755A>C (p.Met26919Leu)
c.80380A>C (p.Met26794Leu)
c.107575A>C (p.Met35859Leu)
c.102652A>C (p.Met34218Leu)
n.446+3915T>G
n.219+3915T>G
c.106672A>C (p.Met35558Leu)
c.80566A>C (p.Met26856Leu)
c.80425A>C (p.Met26809Leu)
c.106468A>C (p.Met35490Leu)
c.101866A>C (p.Met33956Leu)
c.101863A>C (p.Met33955Leu)
c.98905A>C (p.Met32969Leu)
c.80521A>C (p.Met26841Leu)
c.102016A>C (p.Met34006Leu)
c.102013A>C (p.Met34005Leu)
c.101446A>C (p.Met33816Leu)
c.98788A>C (p.Met32930Leu)
c.98707A>C (p.Met32903Leu)
c.80470A>C (p.Met26824Leu)
c.70324A>C (p.Met23442Leu)
2g.178527551T=CA1310508212TTN,TTN-AS1c.99871A= (p.Met33291=)
c.80956A= (p.Met26986=)
c.80755A= (p.Met26919=)
c.80380A= (p.Met26794=)
c.107575A= (p.Met35859=)
c.102652A= (p.Met34218=)
n.446+3915T=
n.219+3915T=
c.106672A= (p.Met35558=)
c.80566A= (p.Met26856=)
c.80425A= (p.Met26809=)
c.106468A= (p.Met35490=)
c.101866A= (p.Met33956=)
c.101863A= (p.Met33955=)
c.98905A= (p.Met32969=)
c.80521A= (p.Met26841=)
c.102016A= (p.Met34006=)
c.102013A= (p.Met34005=)
c.101446A= (p.Met33816=)
c.98788A= (p.Met32930=)
c.98707A= (p.Met32903=)
c.80470A= (p.Met26824=)
c.70324A= (p.Met23442=)
2g.178527552G>ACA430234352TTN,TTN-AS1c.99870C>T (p.Ser33290=)
c.80955C>T (p.Ser26985=)
c.80754C>T (p.Ser26918=)
c.80379C>T (p.Ser26793=)
c.107574C>T (p.Ser35858=)
c.102651C>T (p.Ser34217=)
n.446+3916G>A
n.219+3916G>A
c.106671C>T (p.Ser35557=)
c.80565C>T (p.Ser26855=)
c.80424C>T (p.Ser26808=)
c.106467C>T (p.Ser35489=)
c.101865C>T (p.Ser33955=)
c.101862C>T (p.Ser33954=)
c.98904C>T (p.Ser32968=)
c.80520C>T (p.Ser26840=)
c.102015C>T (p.Ser34005=)
c.102012C>T (p.Ser34004=)
c.101445C>T (p.Ser33815=)
c.98787C>T (p.Ser32929=)
c.98706C>T (p.Ser32902=)
c.80469C>T (p.Ser26823=)
c.70323C>T (p.Ser23441=)
2g.178527552G>CCA430234349TTN,TTN-AS1c.99870C>G (p.Ser33290=)
c.80955C>G (p.Ser26985=)
c.80754C>G (p.Ser26918=)
c.80379C>G (p.Ser26793=)
c.107574C>G (p.Ser35858=)
c.102651C>G (p.Ser34217=)
n.446+3916G>C
n.219+3916G>C
c.106671C>G (p.Ser35557=)
c.80565C>G (p.Ser26855=)
c.80424C>G (p.Ser26808=)
c.106467C>G (p.Ser35489=)
c.101865C>G (p.Ser33955=)
c.101862C>G (p.Ser33954=)
c.98904C>G (p.Ser32968=)
c.80520C>G (p.Ser26840=)
c.102015C>G (p.Ser34005=)
c.102012C>G (p.Ser34004=)
c.101445C>G (p.Ser33815=)
c.98787C>G (p.Ser32929=)
c.98706C>G (p.Ser32902=)
c.80469C>G (p.Ser26823=)
c.70323C>G (p.Ser23441=)
2g.178527552G>TCA430234350TTN,TTN-AS1c.99870C>A (p.Ser33290=)
c.80955C>A (p.Ser26985=)
c.80754C>A (p.Ser26918=)
c.80379C>A (p.Ser26793=)
c.107574C>A (p.Ser35858=)
c.102651C>A (p.Ser34217=)
n.446+3916G>T
n.219+3916G>T
c.106671C>A (p.Ser35557=)
c.80565C>A (p.Ser26855=)
c.80424C>A (p.Ser26808=)
c.106467C>A (p.Ser35489=)
c.101865C>A (p.Ser33955=)
c.101862C>A (p.Ser33954=)
c.98904C>A (p.Ser32968=)
c.80520C>A (p.Ser26840=)
c.102015C>A (p.Ser34005=)
c.102012C>A (p.Ser34004=)
c.101445C>A (p.Ser33815=)
c.98787C>A (p.Ser32929=)
c.98706C>A (p.Ser32902=)
c.80469C>A (p.Ser26823=)
c.70323C>A (p.Ser23441=)
2g.178527553G>ACA349400063TTN,TTN-AS1c.99869C>T (p.Ser33290Phe)
c.80954C>T (p.Ser26985Phe)
c.80753C>T (p.Ser26918Phe)
c.80378C>T (p.Ser26793Phe)
c.107573C>T (p.Ser35858Phe)
c.102650C>T (p.Ser34217Phe)
n.446+3917G>A
n.219+3917G>A
c.106670C>T (p.Ser35557Phe)
c.80564C>T (p.Ser26855Phe)
c.80423C>T (p.Ser26808Phe)
c.106466C>T (p.Ser35489Phe)
c.101864C>T (p.Ser33955Phe)
c.101861C>T (p.Ser33954Phe)
c.98903C>T (p.Ser32968Phe)
c.80519C>T (p.Ser26840Phe)
c.102014C>T (p.Ser34005Phe)
c.102011C>T (p.Ser34004Phe)
c.101444C>T (p.Ser33815Phe)
c.98786C>T (p.Ser32929Phe)
c.98705C>T (p.Ser32902Phe)
c.80468C>T (p.Ser26823Phe)
c.70322C>T (p.Ser23441Phe)
2g.178527553G>CCA349400064TTN,TTN-AS1c.99869C>G (p.Ser33290Cys)
c.80954C>G (p.Ser26985Cys)
c.80753C>G (p.Ser26918Cys)
c.80378C>G (p.Ser26793Cys)
c.107573C>G (p.Ser35858Cys)
c.102650C>G (p.Ser34217Cys)
n.446+3917G>C
n.219+3917G>C
c.106670C>G (p.Ser35557Cys)
c.80564C>G (p.Ser26855Cys)
c.80423C>G (p.Ser26808Cys)
c.106466C>G (p.Ser35489Cys)
c.101864C>G (p.Ser33955Cys)
c.101861C>G (p.Ser33954Cys)
c.98903C>G (p.Ser32968Cys)
c.80519C>G (p.Ser26840Cys)
c.102014C>G (p.Ser34005Cys)
c.102011C>G (p.Ser34004Cys)
c.101444C>G (p.Ser33815Cys)
c.98786C>G (p.Ser32929Cys)
c.98705C>G (p.Ser32902Cys)
c.80468C>G (p.Ser26823Cys)
c.70322C>G (p.Ser23441Cys)
2g.178527553G>TCA349400065TTN,TTN-AS1c.99869C>A (p.Ser33290Tyr)
c.80954C>A (p.Ser26985Tyr)
c.80753C>A (p.Ser26918Tyr)
c.80378C>A (p.Ser26793Tyr)
c.107573C>A (p.Ser35858Tyr)
c.102650C>A (p.Ser34217Tyr)
n.446+3917G>T
n.219+3917G>T
c.106670C>A (p.Ser35557Tyr)
c.80564C>A (p.Ser26855Tyr)
c.80423C>A (p.Ser26808Tyr)
c.106466C>A (p.Ser35489Tyr)
c.101864C>A (p.Ser33955Tyr)
c.101861C>A (p.Ser33954Tyr)
c.98903C>A (p.Ser32968Tyr)
c.80519C>A (p.Ser26840Tyr)
c.102014C>A (p.Ser34005Tyr)
c.102011C>A (p.Ser34004Tyr)
c.101444C>A (p.Ser33815Tyr)
c.98786C>A (p.Ser32929Tyr)
c.98705C>A (p.Ser32902Tyr)
c.80468C>A (p.Ser26823Tyr)
c.70322C>A (p.Ser23441Tyr)
2g.178527554A>CCA349400066TTN,TTN-AS1c.99868T>G (p.Ser33290Ala)
c.80953T>G (p.Ser26985Ala)
c.80752T>G (p.Ser26918Ala)
c.80377T>G (p.Ser26793Ala)
c.107572T>G (p.Ser35858Ala)
c.102649T>G (p.Ser34217Ala)
n.446+3918A>C
n.219+3918A>C
c.106669T>G (p.Ser35557Ala)
c.80563T>G (p.Ser26855Ala)
c.80422T>G (p.Ser26808Ala)
c.106465T>G (p.Ser35489Ala)
c.101863T>G (p.Ser33955Ala)
c.101860T>G (p.Ser33954Ala)
c.98902T>G (p.Ser32968Ala)
c.80518T>G (p.Ser26840Ala)
c.102013T>G (p.Ser34005Ala)
c.102010T>G (p.Ser34004Ala)
c.101443T>G (p.Ser33815Ala)
c.98785T>G (p.Ser32929Ala)
c.98704T>G (p.Ser32902Ala)
c.80467T>G (p.Ser26823Ala)
c.70321T>G (p.Ser23441Ala)
2g.178527554A>GCA349400067TTN,TTN-AS1c.99868T>C (p.Ser33290Pro)
c.80953T>C (p.Ser26985Pro)
c.80752T>C (p.Ser26918Pro)
c.80377T>C (p.Ser26793Pro)
c.107572T>C (p.Ser35858Pro)
c.102649T>C (p.Ser34217Pro)
n.446+3918A>G
n.219+3918A>G
c.106669T>C (p.Ser35557Pro)
c.80563T>C (p.Ser26855Pro)
c.80422T>C (p.Ser26808Pro)
c.106465T>C (p.Ser35489Pro)
c.101863T>C (p.Ser33955Pro)
c.101860T>C (p.Ser33954Pro)
c.98902T>C (p.Ser32968Pro)
c.80518T>C (p.Ser26840Pro)
c.102013T>C (p.Ser34005Pro)
c.102010T>C (p.Ser34004Pro)
c.101443T>C (p.Ser33815Pro)
c.98785T>C (p.Ser32929Pro)
c.98704T>C (p.Ser32902Pro)
c.80467T>C (p.Ser26823Pro)
c.70321T>C (p.Ser23441Pro)
2g.178527554A>TCA349400068TTN,TTN-AS1c.99868T>A (p.Ser33290Thr)
c.80953T>A (p.Ser26985Thr)
c.80752T>A (p.Ser26918Thr)
c.80377T>A (p.Ser26793Thr)
c.107572T>A (p.Ser35858Thr)
c.102649T>A (p.Ser34217Thr)
n.446+3918A>T
n.219+3918A>T
c.106669T>A (p.Ser35557Thr)
c.80563T>A (p.Ser26855Thr)
c.80422T>A (p.Ser26808Thr)
c.106465T>A (p.Ser35489Thr)
c.101863T>A (p.Ser33955Thr)
c.101860T>A (p.Ser33954Thr)
c.98902T>A (p.Ser32968Thr)
c.80518T>A (p.Ser26840Thr)
c.102013T>A (p.Ser34005Thr)
c.102010T>A (p.Ser34004Thr)
c.101443T>A (p.Ser33815Thr)
c.98785T>A (p.Ser32929Thr)
c.98704T>A (p.Ser32902Thr)
c.80467T>A (p.Ser26823Thr)
c.70321T>A (p.Ser23441Thr)
 gnomAD v4
2g.178527555G>ACA430234356TTN,TTN-AS1c.99867C>T (p.Ser33289=)
c.80952C>T (p.Ser26984=)
c.80751C>T (p.Ser26917=)
c.80376C>T (p.Ser26792=)
c.107571C>T (p.Ser35857=)
c.102648C>T (p.Ser34216=)
n.446+3919G>A
n.219+3919G>A
c.106668C>T (p.Ser35556=)
c.80562C>T (p.Ser26854=)
c.80421C>T (p.Ser26807=)
c.106464C>T (p.Ser35488=)
c.101862C>T (p.Ser33954=)
c.101859C>T (p.Ser33953=)
c.98901C>T (p.Ser32967=)
c.80517C>T (p.Ser26839=)
c.102012C>T (p.Ser34004=)
c.102009C>T (p.Ser34003=)
c.101442C>T (p.Ser33814=)
c.98784C>T (p.Ser32928=)
c.98703C>T (p.Ser32901=)
c.80466C>T (p.Ser26822=)
c.70320C>T (p.Ser23440=)
 ClinVar gnomAD v4
2g.178527555G>CCA430234358TTN,TTN-AS1c.99867C>G (p.Ser33289=)
c.80952C>G (p.Ser26984=)
c.80751C>G (p.Ser26917=)
c.80376C>G (p.Ser26792=)
c.107571C>G (p.Ser35857=)
c.102648C>G (p.Ser34216=)
n.446+3919G>C
n.219+3919G>C
c.106668C>G (p.Ser35556=)
c.80562C>G (p.Ser26854=)
c.80421C>G (p.Ser26807=)
c.106464C>G (p.Ser35488=)
c.101862C>G (p.Ser33954=)
c.101859C>G (p.Ser33953=)
c.98901C>G (p.Ser32967=)
c.80517C>G (p.Ser26839=)
c.102012C>G (p.Ser34004=)
c.102009C>G (p.Ser34003=)
c.101442C>G (p.Ser33814=)
c.98784C>G (p.Ser32928=)
c.98703C>G (p.Ser32901=)
c.80466C>G (p.Ser26822=)
c.70320C>G (p.Ser23440=)
2g.178527555G>TCA430234359TTN,TTN-AS1c.99867C>A (p.Ser33289=)
c.80952C>A (p.Ser26984=)
c.80751C>A (p.Ser26917=)
c.80376C>A (p.Ser26792=)
c.107571C>A (p.Ser35857=)
c.102648C>A (p.Ser34216=)
n.446+3919G>T
n.219+3919G>T
c.106668C>A (p.Ser35556=)
c.80562C>A (p.Ser26854=)
c.80421C>A (p.Ser26807=)
c.106464C>A (p.Ser35488=)
c.101862C>A (p.Ser33954=)
c.101859C>A (p.Ser33953=)
c.98901C>A (p.Ser32967=)
c.80517C>A (p.Ser26839=)
c.102012C>A (p.Ser34004=)
c.102009C>A (p.Ser34003=)
c.101442C>A (p.Ser33814=)
c.98784C>A (p.Ser32928=)
c.98703C>A (p.Ser32901=)
c.80466C>A (p.Ser26822=)
c.70320C>A (p.Ser23440=)
2g.178527556G>ACA349400071TTN,TTN-AS1c.99866C>T (p.Ser33289Phe)
c.80951C>T (p.Ser26984Phe)
c.80750C>T (p.Ser26917Phe)
c.80375C>T (p.Ser26792Phe)
c.107570C>T (p.Ser35857Phe)
c.102647C>T (p.Ser34216Phe)
n.446+3920G>A
n.219+3920G>A
c.106667C>T (p.Ser35556Phe)
c.80561C>T (p.Ser26854Phe)
c.80420C>T (p.Ser26807Phe)
c.106463C>T (p.Ser35488Phe)
c.101861C>T (p.Ser33954Phe)
c.101858C>T (p.Ser33953Phe)
c.98900C>T (p.Ser32967Phe)
c.80516C>T (p.Ser26839Phe)
c.102011C>T (p.Ser34004Phe)
c.102008C>T (p.Ser34003Phe)
c.101441C>T (p.Ser33814Phe)
c.98783C>T (p.Ser32928Phe)
c.98702C>T (p.Ser32901Phe)
c.80465C>T (p.Ser26822Phe)
c.70319C>T (p.Ser23440Phe)
2g.178527556G>CCA349400070TTN,TTN-AS1c.99866C>G (p.Ser33289Cys)
c.80951C>G (p.Ser26984Cys)
c.80750C>G (p.Ser26917Cys)
c.80375C>G (p.Ser26792Cys)
c.107570C>G (p.Ser35857Cys)
c.102647C>G (p.Ser34216Cys)
n.446+3920G>C
n.219+3920G>C
c.106667C>G (p.Ser35556Cys)
c.80561C>G (p.Ser26854Cys)
c.80420C>G (p.Ser26807Cys)
c.106463C>G (p.Ser35488Cys)
c.101861C>G (p.Ser33954Cys)
c.101858C>G (p.Ser33953Cys)
c.98900C>G (p.Ser32967Cys)
c.80516C>G (p.Ser26839Cys)
c.102011C>G (p.Ser34004Cys)
c.102008C>G (p.Ser34003Cys)
c.101441C>G (p.Ser33814Cys)
c.98783C>G (p.Ser32928Cys)
c.98702C>G (p.Ser32901Cys)
c.80465C>G (p.Ser26822Cys)
c.70319C>G (p.Ser23440Cys)
 gnomAD v4
2g.178527556G>TCA349400069TTN,TTN-AS1c.99866C>A (p.Ser33289Tyr)
c.80951C>A (p.Ser26984Tyr)
c.80750C>A (p.Ser26917Tyr)
c.80375C>A (p.Ser26792Tyr)
c.107570C>A (p.Ser35857Tyr)
c.102647C>A (p.Ser34216Tyr)
n.446+3920G>T
n.219+3920G>T
c.106667C>A (p.Ser35556Tyr)
c.80561C>A (p.Ser26854Tyr)
c.80420C>A (p.Ser26807Tyr)
c.106463C>A (p.Ser35488Tyr)
c.101861C>A (p.Ser33954Tyr)
c.101858C>A (p.Ser33953Tyr)
c.98900C>A (p.Ser32967Tyr)
c.80516C>A (p.Ser26839Tyr)
c.102011C>A (p.Ser34004Tyr)
c.102008C>A (p.Ser34003Tyr)
c.101441C>A (p.Ser33814Tyr)
c.98783C>A (p.Ser32928Tyr)
c.98702C>A (p.Ser32901Tyr)
c.80465C>A (p.Ser26822Tyr)
c.70319C>A (p.Ser23440Tyr)
2g.178527557A>CCA349400073TTN,TTN-AS1c.99865T>G (p.Ser33289Ala)
c.80950T>G (p.Ser26984Ala)
c.80749T>G (p.Ser26917Ala)
c.80374T>G (p.Ser26792Ala)
c.107569T>G (p.Ser35857Ala)
c.102646T>G (p.Ser34216Ala)
n.446+3921A>C
n.219+3921A>C
c.106666T>G (p.Ser35556Ala)
c.80560T>G (p.Ser26854Ala)
c.80419T>G (p.Ser26807Ala)
c.106462T>G (p.Ser35488Ala)
c.101860T>G (p.Ser33954Ala)
c.101857T>G (p.Ser33953Ala)
c.98899T>G (p.Ser32967Ala)
c.80515T>G (p.Ser26839Ala)
c.102010T>G (p.Ser34004Ala)
c.102007T>G (p.Ser34003Ala)
c.101440T>G (p.Ser33814Ala)
c.98782T>G (p.Ser32928Ala)
c.98701T>G (p.Ser32901Ala)
c.80464T>G (p.Ser26822Ala)
c.70318T>G (p.Ser23440Ala)
2g.178527557A>GCA349400074TTN,TTN-AS1c.99865T>C (p.Ser33289Pro)
c.80950T>C (p.Ser26984Pro)
c.80749T>C (p.Ser26917Pro)
c.80374T>C (p.Ser26792Pro)
c.107569T>C (p.Ser35857Pro)
c.102646T>C (p.Ser34216Pro)
n.446+3921A>G
n.219+3921A>G
c.106666T>C (p.Ser35556Pro)
c.80560T>C (p.Ser26854Pro)
c.80419T>C (p.Ser26807Pro)
c.106462T>C (p.Ser35488Pro)
c.101860T>C (p.Ser33954Pro)
c.101857T>C (p.Ser33953Pro)
c.98899T>C (p.Ser32967Pro)
c.80515T>C (p.Ser26839Pro)
c.102010T>C (p.Ser34004Pro)
c.102007T>C (p.Ser34003Pro)
c.101440T>C (p.Ser33814Pro)
c.98782T>C (p.Ser32928Pro)
c.98701T>C (p.Ser32901Pro)
c.80464T>C (p.Ser26822Pro)
c.70318T>C (p.Ser23440Pro)
2g.178527557A>TCA349400075TTN,TTN-AS1c.99865T>A (p.Ser33289Thr)
c.80950T>A (p.Ser26984Thr)
c.80749T>A (p.Ser26917Thr)
c.80374T>A (p.Ser26792Thr)
c.107569T>A (p.Ser35857Thr)
c.102646T>A (p.Ser34216Thr)
n.446+3921A>T
n.219+3921A>T
c.106666T>A (p.Ser35556Thr)
c.80560T>A (p.Ser26854Thr)
c.80419T>A (p.Ser26807Thr)
c.106462T>A (p.Ser35488Thr)
c.101860T>A (p.Ser33954Thr)
c.101857T>A (p.Ser33953Thr)
c.98899T>A (p.Ser32967Thr)
c.80515T>A (p.Ser26839Thr)
c.102010T>A (p.Ser34004Thr)
c.102007T>A (p.Ser34003Thr)
c.101440T>A (p.Ser33814Thr)
c.98782T>A (p.Ser32928Thr)
c.98701T>A (p.Ser32901Thr)
c.80464T>A (p.Ser26822Thr)
c.70318T>A (p.Ser23440Thr)
2g.178527558C>ACA349400076TTN,TTN-AS1c.99864G>T (p.Met33288Ile)
c.80949G>T (p.Met26983Ile)
c.80748G>T (p.Met26916Ile)
c.80373G>T (p.Met26791Ile)
c.107568G>T (p.Met35856Ile)
c.102645G>T (p.Met34215Ile)
n.446+3922C>A
n.219+3922C>A
c.106665G>T (p.Met35555Ile)
c.80559G>T (p.Met26853Ile)
c.80418G>T (p.Met26806Ile)
c.106461G>T (p.Met35487Ile)
c.101859G>T (p.Met33953Ile)
c.101856G>T (p.Met33952Ile)
c.98898G>T (p.Met32966Ile)
c.80514G>T (p.Met26838Ile)
c.102009G>T (p.Met34003Ile)
c.102006G>T (p.Met34002Ile)
c.101439G>T (p.Met33813Ile)
c.98781G>T (p.Met32927Ile)
c.98700G>T (p.Met32900Ile)
c.80463G>T (p.Met26821Ile)
c.70317G>T (p.Met23439Ile)
2g.178527558C>GCA349400077TTN,TTN-AS1c.99864G>C (p.Met33288Ile)
c.80949G>C (p.Met26983Ile)
c.80748G>C (p.Met26916Ile)
c.80373G>C (p.Met26791Ile)
c.107568G>C (p.Met35856Ile)
c.102645G>C (p.Met34215Ile)
n.446+3922C>G
n.219+3922C>G
c.106665G>C (p.Met35555Ile)
c.80559G>C (p.Met26853Ile)
c.80418G>C (p.Met26806Ile)
c.106461G>C (p.Met35487Ile)
c.101859G>C (p.Met33953Ile)
c.101856G>C (p.Met33952Ile)
c.98898G>C (p.Met32966Ile)
c.80514G>C (p.Met26838Ile)
c.102009G>C (p.Met34003Ile)
c.102006G>C (p.Met34002Ile)
c.101439G>C (p.Met33813Ile)
c.98781G>C (p.Met32927Ile)
c.98700G>C (p.Met32900Ile)
c.80463G>C (p.Met26821Ile)
c.70317G>C (p.Met23439Ile)
2g.178527558C>TCA349400079TTN,TTN-AS1c.99864G>A (p.Met33288Ile)
c.80949G>A (p.Met26983Ile)
c.80748G>A (p.Met26916Ile)
c.80373G>A (p.Met26791Ile)
c.107568G>A (p.Met35856Ile)
c.102645G>A (p.Met34215Ile)
n.446+3922C>T
n.219+3922C>T
c.106665G>A (p.Met35555Ile)
c.80559G>A (p.Met26853Ile)
c.80418G>A (p.Met26806Ile)
c.106461G>A (p.Met35487Ile)
c.101859G>A (p.Met33953Ile)
c.101856G>A (p.Met33952Ile)
c.98898G>A (p.Met32966Ile)
c.80514G>A (p.Met26838Ile)
c.102009G>A (p.Met34003Ile)
c.102006G>A (p.Met34002Ile)
c.101439G>A (p.Met33813Ile)
c.98781G>A (p.Met32927Ile)
c.98700G>A (p.Met32900Ile)
c.80463G>A (p.Met26821Ile)
c.70317G>A (p.Met23439Ile)
2g.178527559A=CA1310508214TTN,TTN-AS1c.99863T= (p.Met33288=)
c.80948T= (p.Met26983=)
c.80747T= (p.Met26916=)
c.80372T= (p.Met26791=)
c.107567T= (p.Met35856=)
c.102644T= (p.Met34215=)
n.446+3923A=
n.219+3923A=
c.106664T= (p.Met35555=)
c.80558T= (p.Met26853=)
c.80417T= (p.Met26806=)
c.106460T= (p.Met35487=)
c.101858T= (p.Met33953=)
c.101855T= (p.Met33952=)
c.98897T= (p.Met32966=)
c.80513T= (p.Met26838=)
c.102008T= (p.Met34003=)
c.102005T= (p.Met34002=)
c.101438T= (p.Met33813=)
c.98780T= (p.Met32927=)
c.98699T= (p.Met32900=)
c.80462T= (p.Met26821=)
c.70316T= (p.Met23439=)
2g.178527559A>CCA349400082TTN,TTN-AS1c.99863T>G (p.Met33288Arg)
c.80948T>G (p.Met26983Arg)
c.80747T>G (p.Met26916Arg)
c.80372T>G (p.Met26791Arg)
c.107567T>G (p.Met35856Arg)
c.102644T>G (p.Met34215Arg)
n.446+3923A>C
n.219+3923A>C
c.106664T>G (p.Met35555Arg)
c.80558T>G (p.Met26853Arg)
c.80417T>G (p.Met26806Arg)
c.106460T>G (p.Met35487Arg)
c.101858T>G (p.Met33953Arg)
c.101855T>G (p.Met33952Arg)
c.98897T>G (p.Met32966Arg)
c.80513T>G (p.Met26838Arg)
c.102008T>G (p.Met34003Arg)
c.102005T>G (p.Met34002Arg)
c.101438T>G (p.Met33813Arg)
c.98780T>G (p.Met32927Arg)
c.98699T>G (p.Met32900Arg)
c.80462T>G (p.Met26821Arg)
c.70316T>G (p.Met23439Arg)
2g.178527559A>GCA349400080TTN,TTN-AS1c.99863T>C (p.Met33288Thr)
c.80948T>C (p.Met26983Thr)
c.80747T>C (p.Met26916Thr)
c.80372T>C (p.Met26791Thr)
c.107567T>C (p.Met35856Thr)
c.102644T>C (p.Met34215Thr)
n.446+3923A>G
n.219+3923A>G
c.106664T>C (p.Met35555Thr)
c.80558T>C (p.Met26853Thr)
c.80417T>C (p.Met26806Thr)
c.106460T>C (p.Met35487Thr)
c.101858T>C (p.Met33953Thr)
c.101855T>C (p.Met33952Thr)
c.98897T>C (p.Met32966Thr)
c.80513T>C (p.Met26838Thr)
c.102008T>C (p.Met34003Thr)
c.102005T>C (p.Met34002Thr)
c.101438T>C (p.Met33813Thr)
c.98780T>C (p.Met32927Thr)
c.98699T>C (p.Met32900Thr)
c.80462T>C (p.Met26821Thr)
c.70316T>C (p.Met23439Thr)
 dbSNP gnomAD v4
2g.178527559A>TCA349400081TTN,TTN-AS1c.99863T>A (p.Met33288Lys)
c.80948T>A (p.Met26983Lys)
c.80747T>A (p.Met26916Lys)
c.80372T>A (p.Met26791Lys)
c.107567T>A (p.Met35856Lys)
c.102644T>A (p.Met34215Lys)
n.446+3923A>T
n.219+3923A>T
c.106664T>A (p.Met35555Lys)
c.80558T>A (p.Met26853Lys)
c.80417T>A (p.Met26806Lys)
c.106460T>A (p.Met35487Lys)
c.101858T>A (p.Met33953Lys)
c.101855T>A (p.Met33952Lys)
c.98897T>A (p.Met32966Lys)
c.80513T>A (p.Met26838Lys)
c.102008T>A (p.Met34003Lys)
c.102005T>A (p.Met34002Lys)
c.101438T>A (p.Met33813Lys)
c.98780T>A (p.Met32927Lys)
c.98699T>A (p.Met32900Lys)
c.80462T>A (p.Met26821Lys)
c.70316T>A (p.Met23439Lys)
2g.178527560T>ACA349400083TTN,TTN-AS1c.99862A>T (p.Met33288Leu)
c.80947A>T (p.Met26983Leu)
c.80746A>T (p.Met26916Leu)
c.80371A>T (p.Met26791Leu)
c.107566A>T (p.Met35856Leu)
c.102643A>T (p.Met34215Leu)
n.446+3924T>A
n.219+3924T>A
c.106663A>T (p.Met35555Leu)
c.80557A>T (p.Met26853Leu)
c.80416A>T (p.Met26806Leu)
c.106459A>T (p.Met35487Leu)
c.101857A>T (p.Met33953Leu)
c.101854A>T (p.Met33952Leu)
c.98896A>T (p.Met32966Leu)
c.80512A>T (p.Met26838Leu)
c.102007A>T (p.Met34003Leu)
c.102004A>T (p.Met34002Leu)
c.101437A>T (p.Met33813Leu)
c.98779A>T (p.Met32927Leu)
c.98698A>T (p.Met32900Leu)
c.80461A>T (p.Met26821Leu)
c.70315A>T (p.Met23439Leu)
2g.178527560T>CCA349400084TTN,TTN-AS1c.99862A>G (p.Met33288Val)
c.80947A>G (p.Met26983Val)
c.80746A>G (p.Met26916Val)
c.80371A>G (p.Met26791Val)
c.107566A>G (p.Met35856Val)
c.102643A>G (p.Met34215Val)
n.446+3924T>C
n.219+3924T>C
c.106663A>G (p.Met35555Val)
c.80557A>G (p.Met26853Val)
c.80416A>G (p.Met26806Val)
c.106459A>G (p.Met35487Val)
c.101857A>G (p.Met33953Val)
c.101854A>G (p.Met33952Val)
c.98896A>G (p.Met32966Val)
c.80512A>G (p.Met26838Val)
c.102007A>G (p.Met34003Val)
c.102004A>G (p.Met34002Val)
c.101437A>G (p.Met33813Val)
c.98779A>G (p.Met32927Val)
c.98698A>G (p.Met32900Val)
c.80461A>G (p.Met26821Val)
c.70315A>G (p.Met23439Val)
2g.178527560T>GCA349400085TTN,TTN-AS1c.99862A>C (p.Met33288Leu)
c.80947A>C (p.Met26983Leu)
c.80746A>C (p.Met26916Leu)
c.80371A>C (p.Met26791Leu)
c.107566A>C (p.Met35856Leu)
c.102643A>C (p.Met34215Leu)
n.446+3924T>G
n.219+3924T>G
c.106663A>C (p.Met35555Leu)
c.80557A>C (p.Met26853Leu)
c.80416A>C (p.Met26806Leu)
c.106459A>C (p.Met35487Leu)
c.101857A>C (p.Met33953Leu)
c.101854A>C (p.Met33952Leu)
c.98896A>C (p.Met32966Leu)
c.80512A>C (p.Met26838Leu)
c.102007A>C (p.Met34003Leu)
c.102004A>C (p.Met34002Leu)
c.101437A>C (p.Met33813Leu)
c.98779A>C (p.Met32927Leu)
c.98698A>C (p.Met32900Leu)
c.80461A>C (p.Met26821Leu)
c.70315A>C (p.Met23439Leu)
2g.178527561G>ACA430234367TTN,TTN-AS1c.99861C>T (p.Ser33287=)
c.80946C>T (p.Ser26982=)
c.80745C>T (p.Ser26915=)
c.80370C>T (p.Ser26790=)
c.107565C>T (p.Ser35855=)
c.102642C>T (p.Ser34214=)
n.446+3925G>A
n.219+3925G>A
c.106662C>T (p.Ser35554=)
c.80556C>T (p.Ser26852=)
c.80415C>T (p.Ser26805=)
c.106458C>T (p.Ser35486=)
c.101856C>T (p.Ser33952=)
c.101853C>T (p.Ser33951=)
c.98895C>T (p.Ser32965=)
c.80511C>T (p.Ser26837=)
c.102006C>T (p.Ser34002=)
c.102003C>T (p.Ser34001=)
c.101436C>T (p.Ser33812=)
c.98778C>T (p.Ser32926=)
c.98697C>T (p.Ser32899=)
c.80460C>T (p.Ser26820=)
c.70314C>T (p.Ser23438=)
2g.178527561G>CCA349400086TTN,TTN-AS1c.99861C>G (p.Ser33287Arg)
c.80946C>G (p.Ser26982Arg)
c.80745C>G (p.Ser26915Arg)
c.80370C>G (p.Ser26790Arg)
c.107565C>G (p.Ser35855Arg)
c.102642C>G (p.Ser34214Arg)
n.446+3925G>C
n.219+3925G>C
c.106662C>G (p.Ser35554Arg)
c.80556C>G (p.Ser26852Arg)
c.80415C>G (p.Ser26805Arg)
c.106458C>G (p.Ser35486Arg)
c.101856C>G (p.Ser33952Arg)
c.101853C>G (p.Ser33951Arg)
c.98895C>G (p.Ser32965Arg)
c.80511C>G (p.Ser26837Arg)
c.102006C>G (p.Ser34002Arg)
c.102003C>G (p.Ser34001Arg)
c.101436C>G (p.Ser33812Arg)
c.98778C>G (p.Ser32926Arg)
c.98697C>G (p.Ser32899Arg)
c.80460C>G (p.Ser26820Arg)
c.70314C>G (p.Ser23438Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527561G=CA1310508219TTN,TTN-AS1c.99861C= (p.Ser33287=)
c.80946C= (p.Ser26982=)
c.80745C= (p.Ser26915=)
c.80370C= (p.Ser26790=)
c.107565C= (p.Ser35855=)
c.102642C= (p.Ser34214=)
n.446+3925G=
n.219+3925G=
c.106662C= (p.Ser35554=)
c.80556C= (p.Ser26852=)
c.80415C= (p.Ser26805=)
c.106458C= (p.Ser35486=)
c.101856C= (p.Ser33952=)
c.101853C= (p.Ser33951=)
c.98895C= (p.Ser32965=)
c.80511C= (p.Ser26837=)
c.102006C= (p.Ser34002=)
c.102003C= (p.Ser34001=)
c.101436C= (p.Ser33812=)
c.98778C= (p.Ser32926=)
c.98697C= (p.Ser32899=)
c.80460C= (p.Ser26820=)
c.70314C= (p.Ser23438=)
2g.178527561G>TCA349400087TTN,TTN-AS1c.99861C>A (p.Ser33287Arg)
c.80946C>A (p.Ser26982Arg)
c.80745C>A (p.Ser26915Arg)
c.80370C>A (p.Ser26790Arg)
c.107565C>A (p.Ser35855Arg)
c.102642C>A (p.Ser34214Arg)
n.446+3925G>T
n.219+3925G>T
c.106662C>A (p.Ser35554Arg)
c.80556C>A (p.Ser26852Arg)
c.80415C>A (p.Ser26805Arg)
c.106458C>A (p.Ser35486Arg)
c.101856C>A (p.Ser33952Arg)
c.101853C>A (p.Ser33951Arg)
c.98895C>A (p.Ser32965Arg)
c.80511C>A (p.Ser26837Arg)
c.102006C>A (p.Ser34002Arg)
c.102003C>A (p.Ser34001Arg)
c.101436C>A (p.Ser33812Arg)
c.98778C>A (p.Ser32926Arg)
c.98697C>A (p.Ser32899Arg)
c.80460C>A (p.Ser26820Arg)
c.70314C>A (p.Ser23438Arg)
2g.178527562C>ACA60949238TTN,TTN-AS1c.99860G>T (p.Ser33287Ile)
c.80945G>T (p.Ser26982Ile)
c.80744G>T (p.Ser26915Ile)
c.80369G>T (p.Ser26790Ile)
c.107564G>T (p.Ser35855Ile)
c.102641G>T (p.Ser34214Ile)
n.446+3926C>A
n.219+3926C>A
c.106661G>T (p.Ser35554Ile)
c.80555G>T (p.Ser26852Ile)
c.80414G>T (p.Ser26805Ile)
c.106457G>T (p.Ser35486Ile)
c.101855G>T (p.Ser33952Ile)
c.101852G>T (p.Ser33951Ile)
c.98894G>T (p.Ser32965Ile)
c.80510G>T (p.Ser26837Ile)
c.102005G>T (p.Ser34002Ile)
c.102002G>T (p.Ser34001Ile)
c.101435G>T (p.Ser33812Ile)
c.98777G>T (p.Ser32926Ile)
c.98696G>T (p.Ser32899Ile)
c.80459G>T (p.Ser26820Ile)
c.70313G>T (p.Ser23438Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527562C=CA1310508228TTN,TTN-AS1c.99860G= (p.Ser33287=)
c.80945G= (p.Ser26982=)
c.80744G= (p.Ser26915=)
c.80369G= (p.Ser26790=)
c.107564G= (p.Ser35855=)
c.102641G= (p.Ser34214=)
n.446+3926C=
n.219+3926C=
c.106661G= (p.Ser35554=)
c.80555G= (p.Ser26852=)
c.80414G= (p.Ser26805=)
c.106457G= (p.Ser35486=)
c.101855G= (p.Ser33952=)
c.101852G= (p.Ser33951=)
c.98894G= (p.Ser32965=)
c.80510G= (p.Ser26837=)
c.102005G= (p.Ser34002=)
c.102002G= (p.Ser34001=)
c.101435G= (p.Ser33812=)
c.98777G= (p.Ser32926=)
c.98696G= (p.Ser32899=)
c.80459G= (p.Ser26820=)
c.70313G= (p.Ser23438=)
2g.178527562C>GCA349400089TTN,TTN-AS1c.99860G>C (p.Ser33287Thr)
c.80945G>C (p.Ser26982Thr)
c.80744G>C (p.Ser26915Thr)
c.80369G>C (p.Ser26790Thr)
c.107564G>C (p.Ser35855Thr)
c.102641G>C (p.Ser34214Thr)
n.446+3926C>G
n.219+3926C>G
c.106661G>C (p.Ser35554Thr)
c.80555G>C (p.Ser26852Thr)
c.80414G>C (p.Ser26805Thr)
c.106457G>C (p.Ser35486Thr)
c.101855G>C (p.Ser33952Thr)
c.101852G>C (p.Ser33951Thr)
c.98894G>C (p.Ser32965Thr)
c.80510G>C (p.Ser26837Thr)
c.102005G>C (p.Ser34002Thr)
c.102002G>C (p.Ser34001Thr)
c.101435G>C (p.Ser33812Thr)
c.98777G>C (p.Ser32926Thr)
c.98696G>C (p.Ser32899Thr)
c.80459G>C (p.Ser26820Thr)
c.70313G>C (p.Ser23438Thr)
2g.178527562C>TCA349400088TTN,TTN-AS1c.99860G>A (p.Ser33287Asn)
c.80945G>A (p.Ser26982Asn)
c.80744G>A (p.Ser26915Asn)
c.80369G>A (p.Ser26790Asn)
c.107564G>A (p.Ser35855Asn)
c.102641G>A (p.Ser34214Asn)
n.446+3926C>T
n.219+3926C>T
c.106661G>A (p.Ser35554Asn)
c.80555G>A (p.Ser26852Asn)
c.80414G>A (p.Ser26805Asn)
c.106457G>A (p.Ser35486Asn)
c.101855G>A (p.Ser33952Asn)
c.101852G>A (p.Ser33951Asn)
c.98894G>A (p.Ser32965Asn)
c.80510G>A (p.Ser26837Asn)
c.102005G>A (p.Ser34002Asn)
c.102002G>A (p.Ser34001Asn)
c.101435G>A (p.Ser33812Asn)
c.98777G>A (p.Ser32926Asn)
c.98696G>A (p.Ser32899Asn)
c.80459G>A (p.Ser26820Asn)
c.70313G>A (p.Ser23438Asn)
2g.178527563T>ACA349400090TTN,TTN-AS1c.99859A>T (p.Ser33287Cys)
c.80944A>T (p.Ser26982Cys)
c.80743A>T (p.Ser26915Cys)
c.80368A>T (p.Ser26790Cys)
c.107563A>T (p.Ser35855Cys)
c.102640A>T (p.Ser34214Cys)
n.446+3927T>A
n.219+3927T>A
c.106660A>T (p.Ser35554Cys)
c.80554A>T (p.Ser26852Cys)
c.80413A>T (p.Ser26805Cys)
c.106456A>T (p.Ser35486Cys)
c.101854A>T (p.Ser33952Cys)
c.101851A>T (p.Ser33951Cys)
c.98893A>T (p.Ser32965Cys)
c.80509A>T (p.Ser26837Cys)
c.102004A>T (p.Ser34002Cys)
c.102001A>T (p.Ser34001Cys)
c.101434A>T (p.Ser33812Cys)
c.98776A>T (p.Ser32926Cys)
c.98695A>T (p.Ser32899Cys)
c.80458A>T (p.Ser26820Cys)
c.70312A>T (p.Ser23438Cys)
2g.178527563T>CCA349400091TTN,TTN-AS1c.99859A>G (p.Ser33287Gly)
c.80944A>G (p.Ser26982Gly)
c.80743A>G (p.Ser26915Gly)
c.80368A>G (p.Ser26790Gly)
c.107563A>G (p.Ser35855Gly)
c.102640A>G (p.Ser34214Gly)
n.446+3927T>C
n.219+3927T>C
c.106660A>G (p.Ser35554Gly)
c.80554A>G (p.Ser26852Gly)
c.80413A>G (p.Ser26805Gly)
c.106456A>G (p.Ser35486Gly)
c.101854A>G (p.Ser33952Gly)
c.101851A>G (p.Ser33951Gly)
c.98893A>G (p.Ser32965Gly)
c.80509A>G (p.Ser26837Gly)
c.102004A>G (p.Ser34002Gly)
c.102001A>G (p.Ser34001Gly)
c.101434A>G (p.Ser33812Gly)
c.98776A>G (p.Ser32926Gly)
c.98695A>G (p.Ser32899Gly)
c.80458A>G (p.Ser26820Gly)
c.70312A>G (p.Ser23438Gly)
 gnomAD v4
2g.178527563T>GCA60949242TTN,TTN-AS1c.99859A>C (p.Ser33287Arg)
c.80944A>C (p.Ser26982Arg)
c.80743A>C (p.Ser26915Arg)
c.80368A>C (p.Ser26790Arg)
c.107563A>C (p.Ser35855Arg)
c.102640A>C (p.Ser34214Arg)
n.446+3927T>G
n.219+3927T>G
c.106660A>C (p.Ser35554Arg)
c.80554A>C (p.Ser26852Arg)
c.80413A>C (p.Ser26805Arg)
c.106456A>C (p.Ser35486Arg)
c.101854A>C (p.Ser33952Arg)
c.101851A>C (p.Ser33951Arg)
c.98893A>C (p.Ser32965Arg)
c.80509A>C (p.Ser26837Arg)
c.102004A>C (p.Ser34002Arg)
c.102001A>C (p.Ser34001Arg)
c.101434A>C (p.Ser33812Arg)
c.98776A>C (p.Ser32926Arg)
c.98695A>C (p.Ser32899Arg)
c.80458A>C (p.Ser26820Arg)
c.70312A>C (p.Ser23438Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178527563T=CA1310508232TTN,TTN-AS1c.99859A= (p.Ser33287=)
c.80944A= (p.Ser26982=)
c.80743A= (p.Ser26915=)
c.80368A= (p.Ser26790=)
c.107563A= (p.Ser35855=)
c.102640A= (p.Ser34214=)
n.446+3927T=
n.219+3927T=
c.106660A= (p.Ser35554=)
c.80554A= (p.Ser26852=)
c.80413A= (p.Ser26805=)
c.106456A= (p.Ser35486=)
c.101854A= (p.Ser33952=)
c.101851A= (p.Ser33951=)
c.98893A= (p.Ser32965=)
c.80509A= (p.Ser26837=)
c.102004A= (p.Ser34002=)
c.102001A= (p.Ser34001=)
c.101434A= (p.Ser33812=)
c.98776A= (p.Ser32926=)
c.98695A= (p.Ser32899=)
c.80458A= (p.Ser26820=)
c.70312A= (p.Ser23438=)
2g.178527564T>ACA349400092TTN,TTN-AS1c.99858A>T (p.Gln33286His)
c.80943A>T (p.Gln26981His)
c.80742A>T (p.Gln26914His)
c.80367A>T (p.Gln26789His)
c.107562A>T (p.Gln35854His)
c.102639A>T (p.Gln34213His)
n.446+3928T>A
n.219+3928T>A
c.106659A>T (p.Gln35553His)
c.80553A>T (p.Gln26851His)
c.80412A>T (p.Gln26804His)
c.106455A>T (p.Gln35485His)
c.101853A>T (p.Gln33951His)
c.101850A>T (p.Gln33950His)
c.98892A>T (p.Gln32964His)
c.80508A>T (p.Gln26836His)
c.102003A>T (p.Gln34001His)
c.102000A>T (p.Gln34000His)
c.101433A>T (p.Gln33811His)
c.98775A>T (p.Gln32925His)
c.98694A>T (p.Gln32898His)
c.80457A>T (p.Gln26819His)
c.70311A>T (p.Gln23437His)
2g.178527564T>CCA430234372TTN,TTN-AS1c.99858A>G (p.Gln33286=)
c.80943A>G (p.Gln26981=)
c.80742A>G (p.Gln26914=)
c.80367A>G (p.Gln26789=)
c.107562A>G (p.Gln35854=)
c.102639A>G (p.Gln34213=)
n.446+3928T>C
n.219+3928T>C
c.106659A>G (p.Gln35553=)
c.80553A>G (p.Gln26851=)
c.80412A>G (p.Gln26804=)
c.106455A>G (p.Gln35485=)
c.101853A>G (p.Gln33951=)
c.101850A>G (p.Gln33950=)
c.98892A>G (p.Gln32964=)
c.80508A>G (p.Gln26836=)
c.102003A>G (p.Gln34001=)
c.102000A>G (p.Gln34000=)
c.101433A>G (p.Gln33811=)
c.98775A>G (p.Gln32925=)
c.98694A>G (p.Gln32898=)
c.80457A>G (p.Gln26819=)
c.70311A>G (p.Gln23437=)
2g.178527564T>GCA349400093TTN,TTN-AS1c.99858A>C (p.Gln33286His)
c.80943A>C (p.Gln26981His)
c.80742A>C (p.Gln26914His)
c.80367A>C (p.Gln26789His)
c.107562A>C (p.Gln35854His)
c.102639A>C (p.Gln34213His)
n.446+3928T>G
n.219+3928T>G
c.106659A>C (p.Gln35553His)
c.80553A>C (p.Gln26851His)
c.80412A>C (p.Gln26804His)
c.106455A>C (p.Gln35485His)
c.101853A>C (p.Gln33951His)
c.101850A>C (p.Gln33950His)
c.98892A>C (p.Gln32964His)
c.80508A>C (p.Gln26836His)
c.102003A>C (p.Gln34001His)
c.102000A>C (p.Gln34000His)
c.101433A>C (p.Gln33811His)
c.98775A>C (p.Gln32925His)
c.98694A>C (p.Gln32898His)
c.80457A>C (p.Gln26819His)
c.70311A>C (p.Gln23437His)
2g.178527565T>ACA349400094TTN,TTN-AS1c.99857A>T (p.Gln33286Leu)
c.80942A>T (p.Gln26981Leu)
c.80741A>T (p.Gln26914Leu)
c.80366A>T (p.Gln26789Leu)
c.107561A>T (p.Gln35854Leu)
c.102638A>T (p.Gln34213Leu)
n.446+3929T>A
n.219+3929T>A
c.106658A>T (p.Gln35553Leu)
c.80552A>T (p.Gln26851Leu)
c.80411A>T (p.Gln26804Leu)
c.106454A>T (p.Gln35485Leu)
c.101852A>T (p.Gln33951Leu)
c.101849A>T (p.Gln33950Leu)
c.98891A>T (p.Gln32964Leu)
c.80507A>T (p.Gln26836Leu)
c.102002A>T (p.Gln34001Leu)
c.101999A>T (p.Gln34000Leu)
c.101432A>T (p.Gln33811Leu)
c.98774A>T (p.Gln32925Leu)
c.98693A>T (p.Gln32898Leu)
c.80456A>T (p.Gln26819Leu)
c.70310A>T (p.Gln23437Leu)
2g.178527565T>CCA349400095TTN,TTN-AS1c.99857A>G (p.Gln33286Arg)
c.80942A>G (p.Gln26981Arg)
c.80741A>G (p.Gln26914Arg)
c.80366A>G (p.Gln26789Arg)
c.107561A>G (p.Gln35854Arg)
c.102638A>G (p.Gln34213Arg)
n.446+3929T>C
n.219+3929T>C
c.106658A>G (p.Gln35553Arg)
c.80552A>G (p.Gln26851Arg)
c.80411A>G (p.Gln26804Arg)
c.106454A>G (p.Gln35485Arg)
c.101852A>G (p.Gln33951Arg)
c.101849A>G (p.Gln33950Arg)
c.98891A>G (p.Gln32964Arg)
c.80507A>G (p.Gln26836Arg)
c.102002A>G (p.Gln34001Arg)
c.101999A>G (p.Gln34000Arg)
c.101432A>G (p.Gln33811Arg)
c.98774A>G (p.Gln32925Arg)
c.98693A>G (p.Gln32898Arg)
c.80456A>G (p.Gln26819Arg)
c.70310A>G (p.Gln23437Arg)
2g.178527565T>GCA349400096TTN,TTN-AS1c.99857A>C (p.Gln33286Pro)
c.80942A>C (p.Gln26981Pro)
c.80741A>C (p.Gln26914Pro)
c.80366A>C (p.Gln26789Pro)
c.107561A>C (p.Gln35854Pro)
c.102638A>C (p.Gln34213Pro)
n.446+3929T>G
n.219+3929T>G
c.106658A>C (p.Gln35553Pro)
c.80552A>C (p.Gln26851Pro)
c.80411A>C (p.Gln26804Pro)
c.106454A>C (p.Gln35485Pro)
c.101852A>C (p.Gln33951Pro)
c.101849A>C (p.Gln33950Pro)
c.98891A>C (p.Gln32964Pro)
c.80507A>C (p.Gln26836Pro)
c.102002A>C (p.Gln34001Pro)
c.101999A>C (p.Gln34000Pro)
c.101432A>C (p.Gln33811Pro)
c.98774A>C (p.Gln32925Pro)
c.98693A>C (p.Gln32898Pro)
c.80456A>C (p.Gln26819Pro)
c.70310A>C (p.Gln23437Pro)
2g.178527566G>ACA349400097TTN,TTN-AS1c.99856C>T (p.Gln33286Ter)
c.80941C>T (p.Gln26981Ter)
c.80740C>T (p.Gln26914Ter)
c.80365C>T (p.Gln26789Ter)
c.107560C>T (p.Gln35854Ter)
c.102637C>T (p.Gln34213Ter)
n.446+3930G>A
n.219+3930G>A
c.106657C>T (p.Gln35553Ter)
c.80551C>T (p.Gln26851Ter)
c.80410C>T (p.Gln26804Ter)
c.106453C>T (p.Gln35485Ter)
c.101851C>T (p.Gln33951Ter)
c.101848C>T (p.Gln33950Ter)
c.98890C>T (p.Gln32964Ter)
c.80506C>T (p.Gln26836Ter)
c.102001C>T (p.Gln34001Ter)
c.101998C>T (p.Gln34000Ter)
c.101431C>T (p.Gln33811Ter)
c.98773C>T (p.Gln32925Ter)
c.98692C>T (p.Gln32898Ter)
c.80455C>T (p.Gln26819Ter)
c.70309C>T (p.Gln23437Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178527566G>CCA349400098TTN,TTN-AS1c.99856C>G (p.Gln33286Glu)
c.80941C>G (p.Gln26981Glu)
c.80740C>G (p.Gln26914Glu)
c.80365C>G (p.Gln26789Glu)
c.107560C>G (p.Gln35854Glu)
c.102637C>G (p.Gln34213Glu)
n.446+3930G>C
n.219+3930G>C
c.106657C>G (p.Gln35553Glu)
c.80551C>G (p.Gln26851Glu)
c.80410C>G (p.Gln26804Glu)
c.106453C>G (p.Gln35485Glu)
c.101851C>G (p.Gln33951Glu)
c.101848C>G (p.Gln33950Glu)
c.98890C>G (p.Gln32964Glu)
c.80506C>G (p.Gln26836Glu)
c.102001C>G (p.Gln34001Glu)
c.101998C>G (p.Gln34000Glu)
c.101431C>G (p.Gln33811Glu)
c.98773C>G (p.Gln32925Glu)
c.98692C>G (p.Gln32898Glu)
c.80455C>G (p.Gln26819Glu)
c.70309C>G (p.Gln23437Glu)
2g.178527566G>TCA349400099TTN,TTN-AS1c.99856C>A (p.Gln33286Lys)
c.80941C>A (p.Gln26981Lys)
c.80740C>A (p.Gln26914Lys)
c.80365C>A (p.Gln26789Lys)
c.107560C>A (p.Gln35854Lys)
c.102637C>A (p.Gln34213Lys)
n.446+3930G>T
n.219+3930G>T
c.106657C>A (p.Gln35553Lys)
c.80551C>A (p.Gln26851Lys)
c.80410C>A (p.Gln26804Lys)
c.106453C>A (p.Gln35485Lys)
c.101851C>A (p.Gln33951Lys)
c.101848C>A (p.Gln33950Lys)
c.98890C>A (p.Gln32964Lys)
c.80506C>A (p.Gln26836Lys)
c.102001C>A (p.Gln34001Lys)
c.101998C>A (p.Gln34000Lys)
c.101431C>A (p.Gln33811Lys)
c.98773C>A (p.Gln32925Lys)
c.98692C>A (p.Gln32898Lys)
c.80455C>A (p.Gln26819Lys)
c.70309C>A (p.Gln23437Lys)
2g.178527567G>ACA430234375TTN,TTN-AS1c.99855C>T (p.Ala33285=)
c.80940C>T (p.Ala26980=)
c.80739C>T (p.Ala26913=)
c.80364C>T (p.Ala26788=)
c.107559C>T (p.Ala35853=)
c.102636C>T (p.Ala34212=)
n.446+3931G>A
n.219+3931G>A
c.106656C>T (p.Ala35552=)
c.80550C>T (p.Ala26850=)
c.80409C>T (p.Ala26803=)
c.106452C>T (p.Ala35484=)
c.101850C>T (p.Ala33950=)
c.101847C>T (p.Ala33949=)
c.98889C>T (p.Ala32963=)
c.80505C>T (p.Ala26835=)
c.102000C>T (p.Ala34000=)
c.101997C>T (p.Ala33999=)
c.101430C>T (p.Ala33810=)
c.98772C>T (p.Ala32924=)
c.98691C>T (p.Ala32897=)
c.80454C>T (p.Ala26818=)
c.70308C>T (p.Ala23436=)
 dbSNP gnomAD v3 gnomAD v4
2g.178527567G>CCA16610287TTN,TTN-AS1c.99855C>G (p.Ala33285=)
c.80940C>G (p.Ala26980=)
c.80739C>G (p.Ala26913=)
c.80364C>G (p.Ala26788=)
c.107559C>G (p.Ala35853=)
c.102636C>G (p.Ala34212=)
n.446+3931G>C
n.219+3931G>C
c.106656C>G (p.Ala35552=)
c.80550C>G (p.Ala26850=)
c.80409C>G (p.Ala26803=)
c.106452C>G (p.Ala35484=)
c.101850C>G (p.Ala33950=)
c.101847C>G (p.Ala33949=)
c.98889C>G (p.Ala32963=)
c.80505C>G (p.Ala26835=)
c.102000C>G (p.Ala34000=)
c.101997C>G (p.Ala33999=)
c.101430C>G (p.Ala33810=)
c.98772C>G (p.Ala32924=)
c.98691C>G (p.Ala32897=)
c.80454C>G (p.Ala26818=)
c.70308C>G (p.Ala23436=)
 ClinVar dbSNP gnomAD v4
2g.178527567G=CA1310508236TTN,TTN-AS1c.99855C= (p.Ala33285=)
c.80940C= (p.Ala26980=)
c.80739C= (p.Ala26913=)
c.80364C= (p.Ala26788=)
c.107559C= (p.Ala35853=)
c.102636C= (p.Ala34212=)
n.446+3931G=
n.219+3931G=
c.106656C= (p.Ala35552=)
c.80550C= (p.Ala26850=)
c.80409C= (p.Ala26803=)
c.106452C= (p.Ala35484=)
c.101850C= (p.Ala33950=)
c.101847C= (p.Ala33949=)
c.98889C= (p.Ala32963=)
c.80505C= (p.Ala26835=)
c.102000C= (p.Ala34000=)
c.101997C= (p.Ala33999=)
c.101430C= (p.Ala33810=)
c.98772C= (p.Ala32924=)
c.98691C= (p.Ala32897=)
c.80454C= (p.Ala26818=)
c.70308C= (p.Ala23436=)
2g.178527567G>TCA430234374TTN,TTN-AS1c.99855C>A (p.Ala33285=)
c.80940C>A (p.Ala26980=)
c.80739C>A (p.Ala26913=)
c.80364C>A (p.Ala26788=)
c.107559C>A (p.Ala35853=)
c.102636C>A (p.Ala34212=)
n.446+3931G>T
n.219+3931G>T
c.106656C>A (p.Ala35552=)
c.80550C>A (p.Ala26850=)
c.80409C>A (p.Ala26803=)
c.106452C>A (p.Ala35484=)
c.101850C>A (p.Ala33950=)
c.101847C>A (p.Ala33949=)
c.98889C>A (p.Ala32963=)
c.80505C>A (p.Ala26835=)
c.102000C>A (p.Ala34000=)
c.101997C>A (p.Ala33999=)
c.101430C>A (p.Ala33810=)
c.98772C>A (p.Ala32924=)
c.98691C>A (p.Ala32897=)
c.80454C>A (p.Ala26818=)
c.70308C>A (p.Ala23436=)
2g.178527568G>ACA349400103TTN,TTN-AS1c.99854C>T (p.Ala33285Val)
c.80939C>T (p.Ala26980Val)
c.80738C>T (p.Ala26913Val)
c.80363C>T (p.Ala26788Val)
c.107558C>T (p.Ala35853Val)
c.102635C>T (p.Ala34212Val)
n.446+3932G>A
n.219+3932G>A
c.106655C>T (p.Ala35552Val)
c.80549C>T (p.Ala26850Val)
c.80408C>T (p.Ala26803Val)
c.106451C>T (p.Ala35484Val)
c.101849C>T (p.Ala33950Val)
c.101846C>T (p.Ala33949Val)
c.98888C>T (p.Ala32963Val)
c.80504C>T (p.Ala26835Val)
c.101999C>T (p.Ala34000Val)
c.101996C>T (p.Ala33999Val)
c.101429C>T (p.Ala33810Val)
c.98771C>T (p.Ala32924Val)
c.98690C>T (p.Ala32897Val)
c.80453C>T (p.Ala26818Val)
c.70307C>T (p.Ala23436Val)
 COSMIC COSMIC COSMIC
2g.178527568G>CCA349400102TTN,TTN-AS1c.99854C>G (p.Ala33285Gly)
c.80939C>G (p.Ala26980Gly)
c.80738C>G (p.Ala26913Gly)
c.80363C>G (p.Ala26788Gly)
c.107558C>G (p.Ala35853Gly)
c.102635C>G (p.Ala34212Gly)
n.446+3932G>C
n.219+3932G>C
c.106655C>G (p.Ala35552Gly)
c.80549C>G (p.Ala26850Gly)
c.80408C>G (p.Ala26803Gly)
c.106451C>G (p.Ala35484Gly)
c.101849C>G (p.Ala33950Gly)
c.101846C>G (p.Ala33949Gly)
c.98888C>G (p.Ala32963Gly)
c.80504C>G (p.Ala26835Gly)
c.101999C>G (p.Ala34000Gly)
c.101996C>G (p.Ala33999Gly)
c.101429C>G (p.Ala33810Gly)
c.98771C>G (p.Ala32924Gly)
c.98690C>G (p.Ala32897Gly)
c.80453C>G (p.Ala26818Gly)
c.70307C>G (p.Ala23436Gly)
2g.178527568G>TCA349400101TTN,TTN-AS1c.99854C>A (p.Ala33285Asp)
c.80939C>A (p.Ala26980Asp)
c.80738C>A (p.Ala26913Asp)
c.80363C>A (p.Ala26788Asp)
c.107558C>A (p.Ala35853Asp)
c.102635C>A (p.Ala34212Asp)
n.446+3932G>T
n.219+3932G>T
c.106655C>A (p.Ala35552Asp)
c.80549C>A (p.Ala26850Asp)
c.80408C>A (p.Ala26803Asp)
c.106451C>A (p.Ala35484Asp)
c.101849C>A (p.Ala33950Asp)
c.101846C>A (p.Ala33949Asp)
c.98888C>A (p.Ala32963Asp)
c.80504C>A (p.Ala26835Asp)
c.101999C>A (p.Ala34000Asp)
c.101996C>A (p.Ala33999Asp)
c.101429C>A (p.Ala33810Asp)
c.98771C>A (p.Ala32924Asp)
c.98690C>A (p.Ala32897Asp)
c.80453C>A (p.Ala26818Asp)
c.70307C>A (p.Ala23436Asp)
2g.178527569C>ACA349400104TTN,TTN-AS1c.99853G>T (p.Ala33285Ser)
c.80938G>T (p.Ala26980Ser)
c.80737G>T (p.Ala26913Ser)
c.80362G>T (p.Ala26788Ser)
c.107557G>T (p.Ala35853Ser)
c.102634G>T (p.Ala34212Ser)
n.446+3933C>A
n.219+3933C>A
c.106654G>T (p.Ala35552Ser)
c.80548G>T (p.Ala26850Ser)
c.80407G>T (p.Ala26803Ser)
c.106450G>T (p.Ala35484Ser)
c.101848G>T (p.Ala33950Ser)
c.101845G>T (p.Ala33949Ser)
c.98887G>T (p.Ala32963Ser)
c.80503G>T (p.Ala26835Ser)
c.101998G>T (p.Ala34000Ser)
c.101995G>T (p.Ala33999Ser)
c.101428G>T (p.Ala33810Ser)
c.98770G>T (p.Ala32924Ser)
c.98689G>T (p.Ala32897Ser)
c.80452G>T (p.Ala26818Ser)
c.70306G>T (p.Ala23436Ser)
2g.178527569C=CA1310508243TTN,TTN-AS1c.99853G= (p.Ala33285=)
c.80938G= (p.Ala26980=)
c.80737G= (p.Ala26913=)
c.80362G= (p.Ala26788=)
c.107557G= (p.Ala35853=)
c.102634G= (p.Ala34212=)
n.446+3933C=
n.219+3933C=
c.106654G= (p.Ala35552=)
c.80548G= (p.Ala26850=)
c.80407G= (p.Ala26803=)
c.106450G= (p.Ala35484=)
c.101848G= (p.Ala33950=)
c.101845G= (p.Ala33949=)
c.98887G= (p.Ala32963=)
c.80503G= (p.Ala26835=)
c.101998G= (p.Ala34000=)
c.101995G= (p.Ala33999=)
c.101428G= (p.Ala33810=)
c.98770G= (p.Ala32924=)
c.98689G= (p.Ala32897=)
c.80452G= (p.Ala26818=)
c.70306G= (p.Ala23436=)
2g.178527569C>GCA349400106TTN,TTN-AS1c.99853G>C (p.Ala33285Pro)
c.80938G>C (p.Ala26980Pro)
c.80737G>C (p.Ala26913Pro)
c.80362G>C (p.Ala26788Pro)
c.107557G>C (p.Ala35853Pro)
c.102634G>C (p.Ala34212Pro)
n.446+3933C>G
n.219+3933C>G
c.106654G>C (p.Ala35552Pro)
c.80548G>C (p.Ala26850Pro)
c.80407G>C (p.Ala26803Pro)
c.106450G>C (p.Ala35484Pro)
c.101848G>C (p.Ala33950Pro)
c.101845G>C (p.Ala33949Pro)
c.98887G>C (p.Ala32963Pro)
c.80503G>C (p.Ala26835Pro)
c.101998G>C (p.Ala34000Pro)
c.101995G>C (p.Ala33999Pro)
c.101428G>C (p.Ala33810Pro)
c.98770G>C (p.Ala32924Pro)
c.98689G>C (p.Ala32897Pro)
c.80452G>C (p.Ala26818Pro)
c.70306G>C (p.Ala23436Pro)
2g.178527569C>TCA349400105TTN,TTN-AS1c.99853G>A (p.Ala33285Thr)
c.80938G>A (p.Ala26980Thr)
c.80737G>A (p.Ala26913Thr)
c.80362G>A (p.Ala26788Thr)
c.107557G>A (p.Ala35853Thr)
c.102634G>A (p.Ala34212Thr)
n.446+3933C>T
n.219+3933C>T
c.106654G>A (p.Ala35552Thr)
c.80548G>A (p.Ala26850Thr)
c.80407G>A (p.Ala26803Thr)
c.106450G>A (p.Ala35484Thr)
c.101848G>A (p.Ala33950Thr)
c.101845G>A (p.Ala33949Thr)
c.98887G>A (p.Ala32963Thr)
c.80503G>A (p.Ala26835Thr)
c.101998G>A (p.Ala34000Thr)
c.101995G>A (p.Ala33999Thr)
c.101428G>A (p.Ala33810Thr)
c.98770G>A (p.Ala32924Thr)
c.98689G>A (p.Ala32897Thr)
c.80452G>A (p.Ala26818Thr)
c.70306G>A (p.Ala23436Thr)
 ClinVar dbSNP gnomAD v4
2g.178527570A=CA1310508246TTN,TTN-AS1c.99852T= (p.Ser33284=)
c.80937T= (p.Ser26979=)
c.80736T= (p.Ser26912=)
c.80361T= (p.Ser26787=)
c.107556T= (p.Ser35852=)
c.102633T= (p.Ser34211=)
n.446+3934A=
n.219+3934A=
c.106653T= (p.Ser35551=)
c.80547T= (p.Ser26849=)
c.80406T= (p.Ser26802=)
c.106449T= (p.Ser35483=)
c.101847T= (p.Ser33949=)
c.101844T= (p.Ser33948=)
c.98886T= (p.Ser32962=)
c.80502T= (p.Ser26834=)
c.101997T= (p.Ser33999=)
c.101994T= (p.Ser33998=)
c.101427T= (p.Ser33809=)
c.98769T= (p.Ser32923=)
c.98688T= (p.Ser32896=)
c.80451T= (p.Ser26817=)
c.70305T= (p.Ser23435=)
2g.178527570A>CCA430234381TTN,TTN-AS1c.99852T>G (p.Ser33284=)
c.80937T>G (p.Ser26979=)
c.80736T>G (p.Ser26912=)
c.80361T>G (p.Ser26787=)
c.107556T>G (p.Ser35852=)
c.102633T>G (p.Ser34211=)
n.446+3934A>C
n.219+3934A>C
c.106653T>G (p.Ser35551=)
c.80547T>G (p.Ser26849=)
c.80406T>G (p.Ser26802=)
c.106449T>G (p.Ser35483=)
c.101847T>G (p.Ser33949=)
c.101844T>G (p.Ser33948=)
c.98886T>G (p.Ser32962=)
c.80502T>G (p.Ser26834=)
c.101997T>G (p.Ser33999=)
c.101994T>G (p.Ser33998=)
c.101427T>G (p.Ser33809=)
c.98769T>G (p.Ser32923=)
c.98688T>G (p.Ser32896=)
c.80451T>G (p.Ser26817=)
c.70305T>G (p.Ser23435=)
2g.178527570A>GCA430234382TTN,TTN-AS1c.99852T>C (p.Ser33284=)
c.80937T>C (p.Ser26979=)
c.80736T>C (p.Ser26912=)
c.80361T>C (p.Ser26787=)
c.107556T>C (p.Ser35852=)
c.102633T>C (p.Ser34211=)
n.446+3934A>G
n.219+3934A>G
c.106653T>C (p.Ser35551=)
c.80547T>C (p.Ser26849=)
c.80406T>C (p.Ser26802=)
c.106449T>C (p.Ser35483=)
c.101847T>C (p.Ser33949=)
c.101844T>C (p.Ser33948=)
c.98886T>C (p.Ser32962=)
c.80502T>C (p.Ser26834=)
c.101997T>C (p.Ser33999=)
c.101994T>C (p.Ser33998=)
c.101427T>C (p.Ser33809=)
c.98769T>C (p.Ser32923=)
c.98688T>C (p.Ser32896=)
c.80451T>C (p.Ser26817=)
c.70305T>C (p.Ser23435=)
2g.178527570A>TCA430234383TTN,TTN-AS1c.99852T>A (p.Ser33284=)
c.80937T>A (p.Ser26979=)
c.80736T>A (p.Ser26912=)
c.80361T>A (p.Ser26787=)
c.107556T>A (p.Ser35852=)
c.102633T>A (p.Ser34211=)
n.446+3934A>T
n.219+3934A>T
c.106653T>A (p.Ser35551=)
c.80547T>A (p.Ser26849=)
c.80406T>A (p.Ser26802=)
c.106449T>A (p.Ser35483=)
c.101847T>A (p.Ser33949=)
c.101844T>A (p.Ser33948=)
c.98886T>A (p.Ser32962=)
c.80502T>A (p.Ser26834=)
c.101997T>A (p.Ser33999=)
c.101994T>A (p.Ser33998=)
c.101427T>A (p.Ser33809=)
c.98769T>A (p.Ser32923=)
c.98688T>A (p.Ser32896=)
c.80451T>A (p.Ser26817=)
c.70305T>A (p.Ser23435=)
 dbSNP gnomAD v2 gnomAD v4
2g.178527571G>ACA349400107TTN,TTN-AS1c.99851C>T (p.Ser33284Phe)
c.80936C>T (p.Ser26979Phe)
c.80735C>T (p.Ser26912Phe)
c.80360C>T (p.Ser26787Phe)
c.107555C>T (p.Ser35852Phe)
c.102632C>T (p.Ser34211Phe)
n.446+3935G>A
n.219+3935G>A
c.106652C>T (p.Ser35551Phe)
c.80546C>T (p.Ser26849Phe)
c.80405C>T (p.Ser26802Phe)
c.106448C>T (p.Ser35483Phe)
c.101846C>T (p.Ser33949Phe)
c.101843C>T (p.Ser33948Phe)
c.98885C>T (p.Ser32962Phe)
c.80501C>T (p.Ser26834Phe)
c.101996C>T (p.Ser33999Phe)
c.101993C>T (p.Ser33998Phe)
c.101426C>T (p.Ser33809Phe)
c.98768C>T (p.Ser32923Phe)
c.98687C>T (p.Ser32896Phe)
c.80450C>T (p.Ser26817Phe)
c.70304C>T (p.Ser23435Phe)
2g.178527571G>CCA349400109TTN,TTN-AS1c.99851C>G (p.Ser33284Cys)
c.80936C>G (p.Ser26979Cys)
c.80735C>G (p.Ser26912Cys)
c.80360C>G (p.Ser26787Cys)
c.107555C>G (p.Ser35852Cys)
c.102632C>G (p.Ser34211Cys)
n.446+3935G>C
n.219+3935G>C
c.106652C>G (p.Ser35551Cys)
c.80546C>G (p.Ser26849Cys)
c.80405C>G (p.Ser26802Cys)
c.106448C>G (p.Ser35483Cys)
c.101846C>G (p.Ser33949Cys)
c.101843C>G (p.Ser33948Cys)
c.98885C>G (p.Ser32962Cys)
c.80501C>G (p.Ser26834Cys)
c.101996C>G (p.Ser33999Cys)
c.101993C>G (p.Ser33998Cys)
c.101426C>G (p.Ser33809Cys)
c.98768C>G (p.Ser32923Cys)
c.98687C>G (p.Ser32896Cys)
c.80450C>G (p.Ser26817Cys)
c.70304C>G (p.Ser23435Cys)
2g.178527571G>TCA349400108TTN,TTN-AS1c.99851C>A (p.Ser33284Tyr)
c.80936C>A (p.Ser26979Tyr)
c.80735C>A (p.Ser26912Tyr)
c.80360C>A (p.Ser26787Tyr)
c.107555C>A (p.Ser35852Tyr)
c.102632C>A (p.Ser34211Tyr)
n.446+3935G>T
n.219+3935G>T
c.106652C>A (p.Ser35551Tyr)
c.80546C>A (p.Ser26849Tyr)
c.80405C>A (p.Ser26802Tyr)
c.106448C>A (p.Ser35483Tyr)
c.101846C>A (p.Ser33949Tyr)
c.101843C>A (p.Ser33948Tyr)
c.98885C>A (p.Ser32962Tyr)
c.80501C>A (p.Ser26834Tyr)
c.101996C>A (p.Ser33999Tyr)
c.101993C>A (p.Ser33998Tyr)
c.101426C>A (p.Ser33809Tyr)
c.98768C>A (p.Ser32923Tyr)
c.98687C>A (p.Ser32896Tyr)
c.80450C>A (p.Ser26817Tyr)
c.70304C>A (p.Ser23435Tyr)
2g.178527572A>CCA349400110TTN,TTN-AS1c.99850T>G (p.Ser33284Ala)
c.80935T>G (p.Ser26979Ala)
c.80734T>G (p.Ser26912Ala)
c.80359T>G (p.Ser26787Ala)
c.107554T>G (p.Ser35852Ala)
c.102631T>G (p.Ser34211Ala)
n.446+3936A>C
n.219+3936A>C
c.106651T>G (p.Ser35551Ala)
c.80545T>G (p.Ser26849Ala)
c.80404T>G (p.Ser26802Ala)
c.106447T>G (p.Ser35483Ala)
c.101845T>G (p.Ser33949Ala)
c.101842T>G (p.Ser33948Ala)
c.98884T>G (p.Ser32962Ala)
c.80500T>G (p.Ser26834Ala)
c.101995T>G (p.Ser33999Ala)
c.101992T>G (p.Ser33998Ala)
c.101425T>G (p.Ser33809Ala)
c.98767T>G (p.Ser32923Ala)
c.98686T>G (p.Ser32896Ala)
c.80449T>G (p.Ser26817Ala)
c.70303T>G (p.Ser23435Ala)
2g.178527572A>GCA349400111TTN,TTN-AS1c.99850T>C (p.Ser33284Pro)
c.80935T>C (p.Ser26979Pro)
c.80734T>C (p.Ser26912Pro)
c.80359T>C (p.Ser26787Pro)
c.107554T>C (p.Ser35852Pro)
c.102631T>C (p.Ser34211Pro)
n.446+3936A>G
n.219+3936A>G
c.106651T>C (p.Ser35551Pro)
c.80545T>C (p.Ser26849Pro)
c.80404T>C (p.Ser26802Pro)
c.106447T>C (p.Ser35483Pro)
c.101845T>C (p.Ser33949Pro)
c.101842T>C (p.Ser33948Pro)
c.98884T>C (p.Ser32962Pro)
c.80500T>C (p.Ser26834Pro)
c.101995T>C (p.Ser33999Pro)
c.101992T>C (p.Ser33998Pro)
c.101425T>C (p.Ser33809Pro)
c.98767T>C (p.Ser32923Pro)
c.98686T>C (p.Ser32896Pro)
c.80449T>C (p.Ser26817Pro)
c.70303T>C (p.Ser23435Pro)
2g.178527572A>TCA349400112TTN,TTN-AS1c.99850T>A (p.Ser33284Thr)
c.80935T>A (p.Ser26979Thr)
c.80734T>A (p.Ser26912Thr)
c.80359T>A (p.Ser26787Thr)
c.107554T>A (p.Ser35852Thr)
c.102631T>A (p.Ser34211Thr)
n.446+3936A>T
n.219+3936A>T
c.106651T>A (p.Ser35551Thr)
c.80545T>A (p.Ser26849Thr)
c.80404T>A (p.Ser26802Thr)
c.106447T>A (p.Ser35483Thr)
c.101845T>A (p.Ser33949Thr)
c.101842T>A (p.Ser33948Thr)
c.98884T>A (p.Ser32962Thr)
c.80500T>A (p.Ser26834Thr)
c.101995T>A (p.Ser33999Thr)
c.101992T>A (p.Ser33998Thr)
c.101425T>A (p.Ser33809Thr)
c.98767T>A (p.Ser32923Thr)
c.98686T>A (p.Ser32896Thr)
c.80449T>A (p.Ser26817Thr)
c.70303T>A (p.Ser23435Thr)
2g.178527573C>ACA349400113TTN,TTN-AS1c.99849G>T (p.Met33283Ile)
c.80934G>T (p.Met26978Ile)
c.80733G>T (p.Met26911Ile)
c.80358G>T (p.Met26786Ile)
c.107553G>T (p.Met35851Ile)
c.102630G>T (p.Met34210Ile)
n.446+3937C>A
n.219+3937C>A
c.106650G>T (p.Met35550Ile)
c.80544G>T (p.Met26848Ile)
c.80403G>T (p.Met26801Ile)
c.106446G>T (p.Met35482Ile)
c.101844G>T (p.Met33948Ile)
c.101841G>T (p.Met33947Ile)
c.98883G>T (p.Met32961Ile)
c.80499G>T (p.Met26833Ile)
c.101994G>T (p.Met33998Ile)
c.101991G>T (p.Met33997Ile)
c.101424G>T (p.Met33808Ile)
c.98766G>T (p.Met32922Ile)
c.98685G>T (p.Met32895Ile)
c.80448G>T (p.Met26816Ile)
c.70302G>T (p.Met23434Ile)
 gnomAD v4
2g.178527573C>GCA349400114TTN,TTN-AS1c.99849G>C (p.Met33283Ile)
c.80934G>C (p.Met26978Ile)
c.80733G>C (p.Met26911Ile)
c.80358G>C (p.Met26786Ile)
c.107553G>C (p.Met35851Ile)
c.102630G>C (p.Met34210Ile)
n.446+3937C>G
n.219+3937C>G
c.106650G>C (p.Met35550Ile)
c.80544G>C (p.Met26848Ile)
c.80403G>C (p.Met26801Ile)
c.106446G>C (p.Met35482Ile)
c.101844G>C (p.Met33948Ile)
c.101841G>C (p.Met33947Ile)
c.98883G>C (p.Met32961Ile)
c.80499G>C (p.Met26833Ile)
c.101994G>C (p.Met33998Ile)
c.101991G>C (p.Met33997Ile)
c.101424G>C (p.Met33808Ile)
c.98766G>C (p.Met32922Ile)
c.98685G>C (p.Met32895Ile)
c.80448G>C (p.Met26816Ile)
c.70302G>C (p.Met23434Ile)
2g.178527573C>TCA349400115TTN,TTN-AS1c.99849G>A (p.Met33283Ile)
c.80934G>A (p.Met26978Ile)
c.80733G>A (p.Met26911Ile)
c.80358G>A (p.Met26786Ile)
c.107553G>A (p.Met35851Ile)
c.102630G>A (p.Met34210Ile)
n.446+3937C>T
n.219+3937C>T
c.106650G>A (p.Met35550Ile)
c.80544G>A (p.Met26848Ile)
c.80403G>A (p.Met26801Ile)
c.106446G>A (p.Met35482Ile)
c.101844G>A (p.Met33948Ile)
c.101841G>A (p.Met33947Ile)
c.98883G>A (p.Met32961Ile)
c.80499G>A (p.Met26833Ile)
c.101994G>A (p.Met33998Ile)
c.101991G>A (p.Met33997Ile)
c.101424G>A (p.Met33808Ile)
c.98766G>A (p.Met32922Ile)
c.98685G>A (p.Met32895Ile)
c.80448G>A (p.Met26816Ile)
c.70302G>A (p.Met23434Ile)
 gnomAD v4
2g.178527574A=CA1310508249TTN,TTN-AS1c.99848T= (p.Met33283=)
c.80933T= (p.Met26978=)
c.80732T= (p.Met26911=)
c.80357T= (p.Met26786=)
c.107552T= (p.Met35851=)
c.102629T= (p.Met34210=)
n.446+3938A=
n.219+3938A=
c.106649T= (p.Met35550=)
c.80543T= (p.Met26848=)
c.80402T= (p.Met26801=)
c.106445T= (p.Met35482=)
c.101843T= (p.Met33948=)
c.101840T= (p.Met33947=)
c.98882T= (p.Met32961=)
c.80498T= (p.Met26833=)
c.101993T= (p.Met33998=)
c.101990T= (p.Met33997=)
c.101423T= (p.Met33808=)
c.98765T= (p.Met32922=)
c.98684T= (p.Met32895=)
c.80447T= (p.Met26816=)
c.70301T= (p.Met23434=)
2g.178527574A>CCA349400116TTN,TTN-AS1c.99848T>G (p.Met33283Arg)
c.80933T>G (p.Met26978Arg)
c.80732T>G (p.Met26911Arg)
c.80357T>G (p.Met26786Arg)
c.107552T>G (p.Met35851Arg)
c.102629T>G (p.Met34210Arg)
n.446+3938A>C
n.219+3938A>C
c.106649T>G (p.Met35550Arg)
c.80543T>G (p.Met26848Arg)
c.80402T>G (p.Met26801Arg)
c.106445T>G (p.Met35482Arg)
c.101843T>G (p.Met33948Arg)
c.101840T>G (p.Met33947Arg)
c.98882T>G (p.Met32961Arg)
c.80498T>G (p.Met26833Arg)
c.101993T>G (p.Met33998Arg)
c.101990T>G (p.Met33997Arg)
c.101423T>G (p.Met33808Arg)
c.98765T>G (p.Met32922Arg)
c.98684T>G (p.Met32895Arg)
c.80447T>G (p.Met26816Arg)
c.70301T>G (p.Met23434Arg)
2g.178527574A>GCA349400117TTN,TTN-AS1c.99848T>C (p.Met33283Thr)
c.80933T>C (p.Met26978Thr)
c.80732T>C (p.Met26911Thr)
c.80357T>C (p.Met26786Thr)
c.107552T>C (p.Met35851Thr)
c.102629T>C (p.Met34210Thr)
n.446+3938A>G
n.219+3938A>G
c.106649T>C (p.Met35550Thr)
c.80543T>C (p.Met26848Thr)
c.80402T>C (p.Met26801Thr)
c.106445T>C (p.Met35482Thr)
c.101843T>C (p.Met33948Thr)
c.101840T>C (p.Met33947Thr)
c.98882T>C (p.Met32961Thr)
c.80498T>C (p.Met26833Thr)
c.101993T>C (p.Met33998Thr)
c.101990T>C (p.Met33997Thr)
c.101423T>C (p.Met33808Thr)
c.98765T>C (p.Met32922Thr)
c.98684T>C (p.Met32895Thr)
c.80447T>C (p.Met26816Thr)
c.70301T>C (p.Met23434Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527574A>TCA349400118TTN,TTN-AS1c.99848T>A (p.Met33283Lys)
c.80933T>A (p.Met26978Lys)
c.80732T>A (p.Met26911Lys)
c.80357T>A (p.Met26786Lys)
c.107552T>A (p.Met35851Lys)
c.102629T>A (p.Met34210Lys)
n.446+3938A>T
n.219+3938A>T
c.106649T>A (p.Met35550Lys)
c.80543T>A (p.Met26848Lys)
c.80402T>A (p.Met26801Lys)
c.106445T>A (p.Met35482Lys)
c.101843T>A (p.Met33948Lys)
c.101840T>A (p.Met33947Lys)
c.98882T>A (p.Met32961Lys)
c.80498T>A (p.Met26833Lys)
c.101993T>A (p.Met33998Lys)
c.101990T>A (p.Met33997Lys)
c.101423T>A (p.Met33808Lys)
c.98765T>A (p.Met32922Lys)
c.98684T>A (p.Met32895Lys)
c.80447T>A (p.Met26816Lys)
c.70301T>A (p.Met23434Lys)
 ClinVar gnomAD v4
2g.178527575T>ACA349400119TTN,TTN-AS1c.99847A>T (p.Met33283Leu)
c.80932A>T (p.Met26978Leu)
c.80731A>T (p.Met26911Leu)
c.80356A>T (p.Met26786Leu)
c.107551A>T (p.Met35851Leu)
c.102628A>T (p.Met34210Leu)
n.446+3939T>A
n.219+3939T>A
c.106648A>T (p.Met35550Leu)
c.80542A>T (p.Met26848Leu)
c.80401A>T (p.Met26801Leu)
c.106444A>T (p.Met35482Leu)
c.101842A>T (p.Met33948Leu)
c.101839A>T (p.Met33947Leu)
c.98881A>T (p.Met32961Leu)
c.80497A>T (p.Met26833Leu)
c.101992A>T (p.Met33998Leu)
c.101989A>T (p.Met33997Leu)
c.101422A>T (p.Met33808Leu)
c.98764A>T (p.Met32922Leu)
c.98683A>T (p.Met32895Leu)
c.80446A>T (p.Met26816Leu)
c.70300A>T (p.Met23434Leu)
2g.178527575T>CCA349400120TTN,TTN-AS1c.99847A>G (p.Met33283Val)
c.80932A>G (p.Met26978Val)
c.80731A>G (p.Met26911Val)
c.80356A>G (p.Met26786Val)
c.107551A>G (p.Met35851Val)
c.102628A>G (p.Met34210Val)
n.446+3939T>C
n.219+3939T>C
c.106648A>G (p.Met35550Val)
c.80542A>G (p.Met26848Val)
c.80401A>G (p.Met26801Val)
c.106444A>G (p.Met35482Val)
c.101842A>G (p.Met33948Val)
c.101839A>G (p.Met33947Val)
c.98881A>G (p.Met32961Val)
c.80497A>G (p.Met26833Val)
c.101992A>G (p.Met33998Val)
c.101989A>G (p.Met33997Val)
c.101422A>G (p.Met33808Val)
c.98764A>G (p.Met32922Val)
c.98683A>G (p.Met32895Val)
c.80446A>G (p.Met26816Val)
c.70300A>G (p.Met23434Val)
2g.178527575T>GCA349400121TTN,TTN-AS1c.99847A>C (p.Met33283Leu)
c.80932A>C (p.Met26978Leu)
c.80731A>C (p.Met26911Leu)
c.80356A>C (p.Met26786Leu)
c.107551A>C (p.Met35851Leu)
c.102628A>C (p.Met34210Leu)
n.446+3939T>G
n.219+3939T>G
c.106648A>C (p.Met35550Leu)
c.80542A>C (p.Met26848Leu)
c.80401A>C (p.Met26801Leu)
c.106444A>C (p.Met35482Leu)
c.101842A>C (p.Met33948Leu)
c.101839A>C (p.Met33947Leu)
c.98881A>C (p.Met32961Leu)
c.80497A>C (p.Met26833Leu)
c.101992A>C (p.Met33998Leu)
c.101989A>C (p.Met33997Leu)
c.101422A>C (p.Met33808Leu)
c.98764A>C (p.Met32922Leu)
c.98683A>C (p.Met32895Leu)
c.80446A>C (p.Met26816Leu)
c.70300A>C (p.Met23434Leu)
2g.178527576G>ACA430234393TTN,TTN-AS1c.99846C>T (p.Ser33282=)
c.80931C>T (p.Ser26977=)
c.80730C>T (p.Ser26910=)
c.80355C>T (p.Ser26785=)
c.107550C>T (p.Ser35850=)
c.102627C>T (p.Ser34209=)
n.446+3940G>A
n.219+3940G>A
c.106647C>T (p.Ser35549=)
c.80541C>T (p.Ser26847=)
c.80400C>T (p.Ser26800=)
c.106443C>T (p.Ser35481=)
c.101841C>T (p.Ser33947=)
c.101838C>T (p.Ser33946=)
c.98880C>T (p.Ser32960=)
c.80496C>T (p.Ser26832=)
c.101991C>T (p.Ser33997=)
c.101988C>T (p.Ser33996=)
c.101421C>T (p.Ser33807=)
c.98763C>T (p.Ser32921=)
c.98682C>T (p.Ser32894=)
c.80445C>T (p.Ser26815=)
c.70299C>T (p.Ser23433=)
2g.178527576G>CCA349400123TTN,TTN-AS1c.99846C>G (p.Ser33282Arg)
c.80931C>G (p.Ser26977Arg)
c.80730C>G (p.Ser26910Arg)
c.80355C>G (p.Ser26785Arg)
c.107550C>G (p.Ser35850Arg)
c.102627C>G (p.Ser34209Arg)
n.446+3940G>C
n.219+3940G>C
c.106647C>G (p.Ser35549Arg)
c.80541C>G (p.Ser26847Arg)
c.80400C>G (p.Ser26800Arg)
c.106443C>G (p.Ser35481Arg)
c.101841C>G (p.Ser33947Arg)
c.101838C>G (p.Ser33946Arg)
c.98880C>G (p.Ser32960Arg)
c.80496C>G (p.Ser26832Arg)
c.101991C>G (p.Ser33997Arg)
c.101988C>G (p.Ser33996Arg)
c.101421C>G (p.Ser33807Arg)
c.98763C>G (p.Ser32921Arg)
c.98682C>G (p.Ser32894Arg)
c.80445C>G (p.Ser26815Arg)
c.70299C>G (p.Ser23433Arg)
2g.178527576G>TCA349400122TTN,TTN-AS1c.99846C>A (p.Ser33282Arg)
c.80931C>A (p.Ser26977Arg)
c.80730C>A (p.Ser26910Arg)
c.80355C>A (p.Ser26785Arg)
c.107550C>A (p.Ser35850Arg)
c.102627C>A (p.Ser34209Arg)
n.446+3940G>T
n.219+3940G>T
c.106647C>A (p.Ser35549Arg)
c.80541C>A (p.Ser26847Arg)
c.80400C>A (p.Ser26800Arg)
c.106443C>A (p.Ser35481Arg)
c.101841C>A (p.Ser33947Arg)
c.101838C>A (p.Ser33946Arg)
c.98880C>A (p.Ser32960Arg)
c.80496C>A (p.Ser26832Arg)
c.101991C>A (p.Ser33997Arg)
c.101988C>A (p.Ser33996Arg)
c.101421C>A (p.Ser33807Arg)
c.98763C>A (p.Ser32921Arg)
c.98682C>A (p.Ser32894Arg)
c.80445C>A (p.Ser26815Arg)
c.70299C>A (p.Ser23433Arg)
2g.178527577C>ACA349400124TTN,TTN-AS1c.99845G>T (p.Ser33282Ile)
c.80930G>T (p.Ser26977Ile)
c.80729G>T (p.Ser26910Ile)
c.80354G>T (p.Ser26785Ile)
c.107549G>T (p.Ser35850Ile)
c.102626G>T (p.Ser34209Ile)
n.446+3941C>A
n.219+3941C>A
c.106646G>T (p.Ser35549Ile)
c.80540G>T (p.Ser26847Ile)
c.80399G>T (p.Ser26800Ile)
c.106442G>T (p.Ser35481Ile)
c.101840G>T (p.Ser33947Ile)
c.101837G>T (p.Ser33946Ile)
c.98879G>T (p.Ser32960Ile)
c.80495G>T (p.Ser26832Ile)
c.101990G>T (p.Ser33997Ile)
c.101987G>T (p.Ser33996Ile)
c.101420G>T (p.Ser33807Ile)
c.98762G>T (p.Ser32921Ile)
c.98681G>T (p.Ser32894Ile)
c.80444G>T (p.Ser26815Ile)
c.70298G>T (p.Ser23433Ile)
2g.178527577C>GCA349400125TTN,TTN-AS1c.99845G>C (p.Ser33282Thr)
c.80930G>C (p.Ser26977Thr)
c.80729G>C (p.Ser26910Thr)
c.80354G>C (p.Ser26785Thr)
c.107549G>C (p.Ser35850Thr)
c.102626G>C (p.Ser34209Thr)
n.446+3941C>G
n.219+3941C>G
c.106646G>C (p.Ser35549Thr)
c.80540G>C (p.Ser26847Thr)
c.80399G>C (p.Ser26800Thr)
c.106442G>C (p.Ser35481Thr)
c.101840G>C (p.Ser33947Thr)
c.101837G>C (p.Ser33946Thr)
c.98879G>C (p.Ser32960Thr)
c.80495G>C (p.Ser26832Thr)
c.101990G>C (p.Ser33997Thr)
c.101987G>C (p.Ser33996Thr)
c.101420G>C (p.Ser33807Thr)
c.98762G>C (p.Ser32921Thr)
c.98681G>C (p.Ser32894Thr)
c.80444G>C (p.Ser26815Thr)
c.70298G>C (p.Ser23433Thr)
2g.178527577C>TCA349400126TTN,TTN-AS1c.99845G>A (p.Ser33282Asn)
c.80930G>A (p.Ser26977Asn)
c.80729G>A (p.Ser26910Asn)
c.80354G>A (p.Ser26785Asn)
c.107549G>A (p.Ser35850Asn)
c.102626G>A (p.Ser34209Asn)
n.446+3941C>T
n.219+3941C>T
c.106646G>A (p.Ser35549Asn)
c.80540G>A (p.Ser26847Asn)
c.80399G>A (p.Ser26800Asn)
c.106442G>A (p.Ser35481Asn)
c.101840G>A (p.Ser33947Asn)
c.101837G>A (p.Ser33946Asn)
c.98879G>A (p.Ser32960Asn)
c.80495G>A (p.Ser26832Asn)
c.101990G>A (p.Ser33997Asn)
c.101987G>A (p.Ser33996Asn)
c.101420G>A (p.Ser33807Asn)
c.98762G>A (p.Ser32921Asn)
c.98681G>A (p.Ser32894Asn)
c.80444G>A (p.Ser26815Asn)
c.70298G>A (p.Ser23433Asn)
2g.178527578T>ACA349400127TTN,TTN-AS1c.99844A>T (p.Ser33282Cys)
c.80929A>T (p.Ser26977Cys)
c.80728A>T (p.Ser26910Cys)
c.80353A>T (p.Ser26785Cys)
c.107548A>T (p.Ser35850Cys)
c.102625A>T (p.Ser34209Cys)
n.446+3942T>A
n.219+3942T>A
c.106645A>T (p.Ser35549Cys)
c.80539A>T (p.Ser26847Cys)
c.80398A>T (p.Ser26800Cys)
c.106441A>T (p.Ser35481Cys)
c.101839A>T (p.Ser33947Cys)
c.101836A>T (p.Ser33946Cys)
c.98878A>T (p.Ser32960Cys)
c.80494A>T (p.Ser26832Cys)
c.101989A>T (p.Ser33997Cys)
c.101986A>T (p.Ser33996Cys)
c.101419A>T (p.Ser33807Cys)
c.98761A>T (p.Ser32921Cys)
c.98680A>T (p.Ser32894Cys)
c.80443A>T (p.Ser26815Cys)
c.70297A>T (p.Ser23433Cys)
2g.178527578T>CCA349400128TTN,TTN-AS1c.99844A>G (p.Ser33282Gly)
c.80929A>G (p.Ser26977Gly)
c.80728A>G (p.Ser26910Gly)
c.80353A>G (p.Ser26785Gly)
c.107548A>G (p.Ser35850Gly)
c.102625A>G (p.Ser34209Gly)
n.446+3942T>C
n.219+3942T>C
c.106645A>G (p.Ser35549Gly)
c.80539A>G (p.Ser26847Gly)
c.80398A>G (p.Ser26800Gly)
c.106441A>G (p.Ser35481Gly)
c.101839A>G (p.Ser33947Gly)
c.101836A>G (p.Ser33946Gly)
c.98878A>G (p.Ser32960Gly)
c.80494A>G (p.Ser26832Gly)
c.101989A>G (p.Ser33997Gly)
c.101986A>G (p.Ser33996Gly)
c.101419A>G (p.Ser33807Gly)
c.98761A>G (p.Ser32921Gly)
c.98680A>G (p.Ser32894Gly)
c.80443A>G (p.Ser26815Gly)
c.70297A>G (p.Ser23433Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178527578T>GCA349400129TTN,TTN-AS1c.99844A>C (p.Ser33282Arg)
c.80929A>C (p.Ser26977Arg)
c.80728A>C (p.Ser26910Arg)
c.80353A>C (p.Ser26785Arg)
c.107548A>C (p.Ser35850Arg)
c.102625A>C (p.Ser34209Arg)
n.446+3942T>G
n.219+3942T>G
c.106645A>C (p.Ser35549Arg)
c.80539A>C (p.Ser26847Arg)
c.80398A>C (p.Ser26800Arg)
c.106441A>C (p.Ser35481Arg)
c.101839A>C (p.Ser33947Arg)
c.101836A>C (p.Ser33946Arg)
c.98878A>C (p.Ser32960Arg)
c.80494A>C (p.Ser26832Arg)
c.101989A>C (p.Ser33997Arg)
c.101986A>C (p.Ser33996Arg)
c.101419A>C (p.Ser33807Arg)
c.98761A>C (p.Ser32921Arg)
c.98680A>C (p.Ser32894Arg)
c.80443A>C (p.Ser26815Arg)
c.70297A>C (p.Ser23433Arg)
2g.178527578T=CA1310508252TTN,TTN-AS1c.99844A= (p.Ser33282=)
c.80929A= (p.Ser26977=)
c.80728A= (p.Ser26910=)
c.80353A= (p.Ser26785=)
c.107548A= (p.Ser35850=)
c.102625A= (p.Ser34209=)
n.446+3942T=
n.219+3942T=
c.106645A= (p.Ser35549=)
c.80539A= (p.Ser26847=)
c.80398A= (p.Ser26800=)
c.106441A= (p.Ser35481=)
c.101839A= (p.Ser33947=)
c.101836A= (p.Ser33946=)
c.98878A= (p.Ser32960=)
c.80494A= (p.Ser26832=)
c.101989A= (p.Ser33997=)
c.101986A= (p.Ser33996=)
c.101419A= (p.Ser33807=)
c.98761A= (p.Ser32921=)
c.98680A= (p.Ser32894=)
c.80443A= (p.Ser26815=)
c.70297A= (p.Ser23433=)
2g.178527579T>ACA430234401TTN,TTN-AS1c.99843A>T (p.Ala33281=)
c.80928A>T (p.Ala26976=)
c.80727A>T (p.Ala26909=)
c.80352A>T (p.Ala26784=)
c.107547A>T (p.Ala35849=)
c.102624A>T (p.Ala34208=)
n.446+3943T>A
n.219+3943T>A
c.106644A>T (p.Ala35548=)
c.80538A>T (p.Ala26846=)
c.80397A>T (p.Ala26799=)
c.106440A>T (p.Ala35480=)
c.101838A>T (p.Ala33946=)
c.101835A>T (p.Ala33945=)
c.98877A>T (p.Ala32959=)
c.80493A>T (p.Ala26831=)
c.101988A>T (p.Ala33996=)
c.101985A>T (p.Ala33995=)
c.101418A>T (p.Ala33806=)
c.98760A>T (p.Ala32920=)
c.98679A>T (p.Ala32893=)
c.80442A>T (p.Ala26814=)
c.70296A>T (p.Ala23432=)
 ClinVar dbSNP gnomAD v2
2g.178527579T>CCA430234402TTN,TTN-AS1c.99843A>G (p.Ala33281=)
c.80928A>G (p.Ala26976=)
c.80727A>G (p.Ala26909=)
c.80352A>G (p.Ala26784=)
c.107547A>G (p.Ala35849=)
c.102624A>G (p.Ala34208=)
n.446+3943T>C
n.219+3943T>C
c.106644A>G (p.Ala35548=)
c.80538A>G (p.Ala26846=)
c.80397A>G (p.Ala26799=)
c.106440A>G (p.Ala35480=)
c.101838A>G (p.Ala33946=)
c.101835A>G (p.Ala33945=)
c.98877A>G (p.Ala32959=)
c.80493A>G (p.Ala26831=)
c.101988A>G (p.Ala33996=)
c.101985A>G (p.Ala33995=)
c.101418A>G (p.Ala33806=)
c.98760A>G (p.Ala32920=)
c.98679A>G (p.Ala32893=)
c.80442A>G (p.Ala26814=)
c.70296A>G (p.Ala23432=)
 dbSNP COSMIC COSMIC COSMIC
2g.178527579T>GCA430234403TTN,TTN-AS1c.99843A>C (p.Ala33281=)
c.80928A>C (p.Ala26976=)
c.80727A>C (p.Ala26909=)
c.80352A>C (p.Ala26784=)
c.107547A>C (p.Ala35849=)
c.102624A>C (p.Ala34208=)
n.446+3943T>G
n.219+3943T>G
c.106644A>C (p.Ala35548=)
c.80538A>C (p.Ala26846=)
c.80397A>C (p.Ala26799=)
c.106440A>C (p.Ala35480=)
c.101838A>C (p.Ala33946=)
c.101835A>C (p.Ala33945=)
c.98877A>C (p.Ala32959=)
c.80493A>C (p.Ala26831=)
c.101988A>C (p.Ala33996=)
c.101985A>C (p.Ala33995=)
c.101418A>C (p.Ala33806=)
c.98760A>C (p.Ala32920=)
c.98679A>C (p.Ala32893=)
c.80442A>C (p.Ala26814=)
c.70296A>C (p.Ala23432=)
2g.178527579T=CA1310508255TTN,TTN-AS1c.99843A= (p.Ala33281=)
c.80928A= (p.Ala26976=)
c.80727A= (p.Ala26909=)
c.80352A= (p.Ala26784=)
c.107547A= (p.Ala35849=)
c.102624A= (p.Ala34208=)
n.446+3943T=
n.219+3943T=
c.106644A= (p.Ala35548=)
c.80538A= (p.Ala26846=)
c.80397A= (p.Ala26799=)
c.106440A= (p.Ala35480=)
c.101838A= (p.Ala33946=)
c.101835A= (p.Ala33945=)
c.98877A= (p.Ala32959=)
c.80493A= (p.Ala26831=)
c.101988A= (p.Ala33996=)
c.101985A= (p.Ala33995=)
c.101418A= (p.Ala33806=)
c.98760A= (p.Ala32920=)
c.98679A= (p.Ala32893=)
c.80442A= (p.Ala26814=)
c.70296A= (p.Ala23432=)
2g.178527580G>ACA349400130TTN,TTN-AS1c.99842C>T (p.Ala33281Val)
c.80927C>T (p.Ala26976Val)
c.80726C>T (p.Ala26909Val)
c.80351C>T (p.Ala26784Val)
c.107546C>T (p.Ala35849Val)
c.102623C>T (p.Ala34208Val)
n.446+3944G>A
n.219+3944G>A
c.106643C>T (p.Ala35548Val)
c.80537C>T (p.Ala26846Val)
c.80396C>T (p.Ala26799Val)
c.106439C>T (p.Ala35480Val)
c.101837C>T (p.Ala33946Val)
c.101834C>T (p.Ala33945Val)
c.98876C>T (p.Ala32959Val)
c.80492C>T (p.Ala26831Val)
c.101987C>T (p.Ala33996Val)
c.101984C>T (p.Ala33995Val)
c.101417C>T (p.Ala33806Val)
c.98759C>T (p.Ala32920Val)
c.98678C>T (p.Ala32893Val)
c.80441C>T (p.Ala26814Val)
c.70295C>T (p.Ala23432Val)
2g.178527580G>CCA349400131TTN,TTN-AS1c.99842C>G (p.Ala33281Gly)
c.80927C>G (p.Ala26976Gly)
c.80726C>G (p.Ala26909Gly)
c.80351C>G (p.Ala26784Gly)
c.107546C>G (p.Ala35849Gly)
c.102623C>G (p.Ala34208Gly)
n.446+3944G>C
n.219+3944G>C
c.106643C>G (p.Ala35548Gly)
c.80537C>G (p.Ala26846Gly)
c.80396C>G (p.Ala26799Gly)
c.106439C>G (p.Ala35480Gly)
c.101837C>G (p.Ala33946Gly)
c.101834C>G (p.Ala33945Gly)
c.98876C>G (p.Ala32959Gly)
c.80492C>G (p.Ala26831Gly)
c.101987C>G (p.Ala33996Gly)
c.101984C>G (p.Ala33995Gly)
c.101417C>G (p.Ala33806Gly)
c.98759C>G (p.Ala32920Gly)
c.98678C>G (p.Ala32893Gly)
c.80441C>G (p.Ala26814Gly)
c.70295C>G (p.Ala23432Gly)
2g.178527580G>TCA349400132TTN,TTN-AS1c.99842C>A (p.Ala33281Glu)
c.80927C>A (p.Ala26976Glu)
c.80726C>A (p.Ala26909Glu)
c.80351C>A (p.Ala26784Glu)
c.107546C>A (p.Ala35849Glu)
c.102623C>A (p.Ala34208Glu)
n.446+3944G>T
n.219+3944G>T
c.106643C>A (p.Ala35548Glu)
c.80537C>A (p.Ala26846Glu)
c.80396C>A (p.Ala26799Glu)
c.106439C>A (p.Ala35480Glu)
c.101837C>A (p.Ala33946Glu)
c.101834C>A (p.Ala33945Glu)
c.98876C>A (p.Ala32959Glu)
c.80492C>A (p.Ala26831Glu)
c.101987C>A (p.Ala33996Glu)
c.101984C>A (p.Ala33995Glu)
c.101417C>A (p.Ala33806Glu)
c.98759C>A (p.Ala32920Glu)
c.98678C>A (p.Ala32893Glu)
c.80441C>A (p.Ala26814Glu)
c.70295C>A (p.Ala23432Glu)
2g.178527580_178527583delCA2662122387TTN,TTN-AS1c.99839_99842del (p.Phe33280Ter)
c.80924_80927del (p.Phe26975Ter)
c.80723_80726del (p.Phe26908Ter)
c.80348_80351del (p.Phe26783Ter)
c.107543_107546del (p.Phe35848Ter)
c.102620_102623del (p.Phe34207Ter)
n.446+3944_446+3947del
n.219+3944_219+3947del
c.106640_106643del (p.Phe35547Ter)
c.80534_80537del (p.Phe26845Ter)
c.80393_80396del (p.Phe26798Ter)
c.106436_106439del (p.Phe35479Ter)
c.101834_101837del (p.Phe33945Ter)
c.101831_101834del (p.Phe33944Ter)
c.98873_98876del (p.Phe32958Ter)
c.80489_80492del (p.Phe26830Ter)
c.101984_101987del (p.Phe33995Ter)
c.101981_101984del (p.Phe33994Ter)
c.101414_101417del (p.Phe33805Ter)
c.98756_98759del (p.Phe32919Ter)
c.98675_98678del (p.Phe32892Ter)
c.80438_80441del (p.Phe26813Ter)
c.70292_70295del (p.Phe23431Ter)
 gnomAD v4
2g.178527581delCA2586970711TTN,TTN-AS1c.99841del (p.Ala33281GlnfsTer16)
c.80926del (p.Ala26976GlnfsTer16)
c.80725del (p.Ala26909GlnfsTer16)
c.80350del (p.Ala26784GlnfsTer16)
c.107545del (p.Ala35849GlnfsTer16)
c.102622del (p.Ala34208GlnfsTer16)
n.446+3945del
n.219+3945del
c.106642del (p.Ala35548GlnfsTer16)
c.80536del (p.Ala26846GlnfsTer16)
c.80395del (p.Ala26799GlnfsTer16)
c.106438del (p.Ala35480GlnfsTer16)
c.101836del (p.Ala33946GlnfsTer16)
c.101833del (p.Ala33945GlnfsTer16)
c.98875del (p.Ala32959GlnfsTer16)
c.80491del (p.Ala26831GlnfsTer16)
c.101986del (p.Ala33996GlnfsTer16)
c.101983del (p.Ala33995GlnfsTer16)
c.101416del (p.Ala33806GlnfsTer16)
c.98758del (p.Ala32920GlnfsTer16)
c.98677del (p.Ala32893GlnfsTer16)
c.80440del (p.Ala26814GlnfsTer16)
c.70294del (p.Ala23432GlnfsTer16)
2g.178527581C>ACA349400133TTN,TTN-AS1c.99841G>T (p.Ala33281Ser)
c.80926G>T (p.Ala26976Ser)
c.80725G>T (p.Ala26909Ser)
c.80350G>T (p.Ala26784Ser)
c.107545G>T (p.Ala35849Ser)
c.102622G>T (p.Ala34208Ser)
n.446+3945C>A
n.219+3945C>A
c.106642G>T (p.Ala35548Ser)
c.80536G>T (p.Ala26846Ser)
c.80395G>T (p.Ala26799Ser)
c.106438G>T (p.Ala35480Ser)
c.101836G>T (p.Ala33946Ser)
c.101833G>T (p.Ala33945Ser)
c.98875G>T (p.Ala32959Ser)
c.80491G>T (p.Ala26831Ser)
c.101986G>T (p.Ala33996Ser)
c.101983G>T (p.Ala33995Ser)
c.101416G>T (p.Ala33806Ser)
c.98758G>T (p.Ala32920Ser)
c.98677G>T (p.Ala32893Ser)
c.80440G>T (p.Ala26814Ser)
c.70294G>T (p.Ala23432Ser)
2g.178527581C>GCA349400134TTN,TTN-AS1c.99841G>C (p.Ala33281Pro)
c.80926G>C (p.Ala26976Pro)
c.80725G>C (p.Ala26909Pro)
c.80350G>C (p.Ala26784Pro)
c.107545G>C (p.Ala35849Pro)
c.102622G>C (p.Ala34208Pro)
n.446+3945C>G
n.219+3945C>G
c.106642G>C (p.Ala35548Pro)
c.80536G>C (p.Ala26846Pro)
c.80395G>C (p.Ala26799Pro)
c.106438G>C (p.Ala35480Pro)
c.101836G>C (p.Ala33946Pro)
c.101833G>C (p.Ala33945Pro)
c.98875G>C (p.Ala32959Pro)
c.80491G>C (p.Ala26831Pro)
c.101986G>C (p.Ala33996Pro)
c.101983G>C (p.Ala33995Pro)
c.101416G>C (p.Ala33806Pro)
c.98758G>C (p.Ala32920Pro)
c.98677G>C (p.Ala32893Pro)
c.80440G>C (p.Ala26814Pro)
c.70294G>C (p.Ala23432Pro)
2g.178527581C>TCA349400136TTN,TTN-AS1c.99841G>A (p.Ala33281Thr)
c.80926G>A (p.Ala26976Thr)
c.80725G>A (p.Ala26909Thr)
c.80350G>A (p.Ala26784Thr)
c.107545G>A (p.Ala35849Thr)
c.102622G>A (p.Ala34208Thr)
n.446+3945C>T
n.219+3945C>T
c.106642G>A (p.Ala35548Thr)
c.80536G>A (p.Ala26846Thr)
c.80395G>A (p.Ala26799Thr)
c.106438G>A (p.Ala35480Thr)
c.101836G>A (p.Ala33946Thr)
c.101833G>A (p.Ala33945Thr)
c.98875G>A (p.Ala32959Thr)
c.80491G>A (p.Ala26831Thr)
c.101986G>A (p.Ala33996Thr)
c.101983G>A (p.Ala33995Thr)
c.101416G>A (p.Ala33806Thr)
c.98758G>A (p.Ala32920Thr)
c.98677G>A (p.Ala32893Thr)
c.80440G>A (p.Ala26814Thr)
c.70294G>A (p.Ala23432Thr)
2g.178527582A>CCA349400137TTN,TTN-AS1c.99840T>G (p.Phe33280Leu)
c.80925T>G (p.Phe26975Leu)
c.80724T>G (p.Phe26908Leu)
c.80349T>G (p.Phe26783Leu)
c.107544T>G (p.Phe35848Leu)
c.102621T>G (p.Phe34207Leu)
n.446+3946A>C
n.219+3946A>C
c.106641T>G (p.Phe35547Leu)
c.80535T>G (p.Phe26845Leu)
c.80394T>G (p.Phe26798Leu)
c.106437T>G (p.Phe35479Leu)
c.101835T>G (p.Phe33945Leu)
c.101832T>G (p.Phe33944Leu)
c.98874T>G (p.Phe32958Leu)
c.80490T>G (p.Phe26830Leu)
c.101985T>G (p.Phe33995Leu)
c.101982T>G (p.Phe33994Leu)
c.101415T>G (p.Phe33805Leu)
c.98757T>G (p.Phe32919Leu)
c.98676T>G (p.Phe32892Leu)
c.80439T>G (p.Phe26813Leu)
c.70293T>G (p.Phe23431Leu)
2g.178527582A>GCA430234410TTN,TTN-AS1c.99840T>C (p.Phe33280=)
c.80925T>C (p.Phe26975=)
c.80724T>C (p.Phe26908=)
c.80349T>C (p.Phe26783=)
c.107544T>C (p.Phe35848=)
c.102621T>C (p.Phe34207=)
n.446+3946A>G
n.219+3946A>G
c.106641T>C (p.Phe35547=)
c.80535T>C (p.Phe26845=)
c.80394T>C (p.Phe26798=)
c.106437T>C (p.Phe35479=)
c.101835T>C (p.Phe33945=)
c.101832T>C (p.Phe33944=)
c.98874T>C (p.Phe32958=)
c.80490T>C (p.Phe26830=)
c.101985T>C (p.Phe33995=)
c.101982T>C (p.Phe33994=)
c.101415T>C (p.Phe33805=)
c.98757T>C (p.Phe32919=)
c.98676T>C (p.Phe32892=)
c.80439T>C (p.Phe26813=)
c.70293T>C (p.Phe23431=)
2g.178527582A>TCA349400139TTN,TTN-AS1c.99840T>A (p.Phe33280Leu)
c.80925T>A (p.Phe26975Leu)
c.80724T>A (p.Phe26908Leu)
c.80349T>A (p.Phe26783Leu)
c.107544T>A (p.Phe35848Leu)
c.102621T>A (p.Phe34207Leu)
n.446+3946A>T
n.219+3946A>T
c.106641T>A (p.Phe35547Leu)
c.80535T>A (p.Phe26845Leu)
c.80394T>A (p.Phe26798Leu)
c.106437T>A (p.Phe35479Leu)
c.101835T>A (p.Phe33945Leu)
c.101832T>A (p.Phe33944Leu)
c.98874T>A (p.Phe32958Leu)
c.80490T>A (p.Phe26830Leu)
c.101985T>A (p.Phe33995Leu)
c.101982T>A (p.Phe33994Leu)
c.101415T>A (p.Phe33805Leu)
c.98757T>A (p.Phe32919Leu)
c.98676T>A (p.Phe32892Leu)
c.80439T>A (p.Phe26813Leu)
c.70293T>A (p.Phe23431Leu)
2g.178527583A>CCA349400140TTN,TTN-AS1c.99839T>G (p.Phe33280Cys)
c.80924T>G (p.Phe26975Cys)
c.80723T>G (p.Phe26908Cys)
c.80348T>G (p.Phe26783Cys)
c.107543T>G (p.Phe35848Cys)
c.102620T>G (p.Phe34207Cys)
n.446+3947A>C
n.219+3947A>C
c.106640T>G (p.Phe35547Cys)
c.80534T>G (p.Phe26845Cys)
c.80393T>G (p.Phe26798Cys)
c.106436T>G (p.Phe35479Cys)
c.101834T>G (p.Phe33945Cys)
c.101831T>G (p.Phe33944Cys)
c.98873T>G (p.Phe32958Cys)
c.80489T>G (p.Phe26830Cys)
c.101984T>G (p.Phe33995Cys)
c.101981T>G (p.Phe33994Cys)
c.101414T>G (p.Phe33805Cys)
c.98756T>G (p.Phe32919Cys)
c.98675T>G (p.Phe32892Cys)
c.80438T>G (p.Phe26813Cys)
c.70292T>G (p.Phe23431Cys)
2g.178527583A>GCA349400141TTN,TTN-AS1c.99839T>C (p.Phe33280Ser)
c.80924T>C (p.Phe26975Ser)
c.80723T>C (p.Phe26908Ser)
c.80348T>C (p.Phe26783Ser)
c.107543T>C (p.Phe35848Ser)
c.102620T>C (p.Phe34207Ser)
n.446+3947A>G
n.219+3947A>G
c.106640T>C (p.Phe35547Ser)
c.80534T>C (p.Phe26845Ser)
c.80393T>C (p.Phe26798Ser)
c.106436T>C (p.Phe35479Ser)
c.101834T>C (p.Phe33945Ser)
c.101831T>C (p.Phe33944Ser)
c.98873T>C (p.Phe32958Ser)
c.80489T>C (p.Phe26830Ser)
c.101984T>C (p.Phe33995Ser)
c.101981T>C (p.Phe33994Ser)
c.101414T>C (p.Phe33805Ser)
c.98756T>C (p.Phe32919Ser)
c.98675T>C (p.Phe32892Ser)
c.80438T>C (p.Phe26813Ser)
c.70292T>C (p.Phe23431Ser)
2g.178527583A>TCA349400142TTN,TTN-AS1c.99839T>A (p.Phe33280Tyr)
c.80924T>A (p.Phe26975Tyr)
c.80723T>A (p.Phe26908Tyr)
c.80348T>A (p.Phe26783Tyr)
c.107543T>A (p.Phe35848Tyr)
c.102620T>A (p.Phe34207Tyr)
n.446+3947A>T
n.219+3947A>T
c.106640T>A (p.Phe35547Tyr)
c.80534T>A (p.Phe26845Tyr)
c.80393T>A (p.Phe26798Tyr)
c.106436T>A (p.Phe35479Tyr)
c.101834T>A (p.Phe33945Tyr)
c.101831T>A (p.Phe33944Tyr)
c.98873T>A (p.Phe32958Tyr)
c.80489T>A (p.Phe26830Tyr)
c.101984T>A (p.Phe33995Tyr)
c.101981T>A (p.Phe33994Tyr)
c.101414T>A (p.Phe33805Tyr)
c.98756T>A (p.Phe32919Tyr)
c.98675T>A (p.Phe32892Tyr)
c.80438T>A (p.Phe26813Tyr)
c.70292T>A (p.Phe23431Tyr)
2g.178527584A>CCA349400143TTN,TTN-AS1c.99838T>G (p.Phe33280Val)
c.80923T>G (p.Phe26975Val)
c.80722T>G (p.Phe26908Val)
c.80347T>G (p.Phe26783Val)
c.107542T>G (p.Phe35848Val)
c.102619T>G (p.Phe34207Val)
n.446+3948A>C
n.219+3948A>C
c.106639T>G (p.Phe35547Val)
c.80533T>G (p.Phe26845Val)
c.80392T>G (p.Phe26798Val)
c.106435T>G (p.Phe35479Val)
c.101833T>G (p.Phe33945Val)
c.101830T>G (p.Phe33944Val)
c.98872T>G (p.Phe32958Val)
c.80488T>G (p.Phe26830Val)
c.101983T>G (p.Phe33995Val)
c.101980T>G (p.Phe33994Val)
c.101413T>G (p.Phe33805Val)
c.98755T>G (p.Phe32919Val)
c.98674T>G (p.Phe32892Val)
c.80437T>G (p.Phe26813Val)
c.70291T>G (p.Phe23431Val)
 gnomAD v4
2g.178527584A>GCA349400144TTN,TTN-AS1c.99838T>C (p.Phe33280Leu)
c.80923T>C (p.Phe26975Leu)
c.80722T>C (p.Phe26908Leu)
c.80347T>C (p.Phe26783Leu)
c.107542T>C (p.Phe35848Leu)
c.102619T>C (p.Phe34207Leu)
n.446+3948A>G
n.219+3948A>G
c.106639T>C (p.Phe35547Leu)
c.80533T>C (p.Phe26845Leu)
c.80392T>C (p.Phe26798Leu)
c.106435T>C (p.Phe35479Leu)
c.101833T>C (p.Phe33945Leu)
c.101830T>C (p.Phe33944Leu)
c.98872T>C (p.Phe32958Leu)
c.80488T>C (p.Phe26830Leu)
c.101983T>C (p.Phe33995Leu)
c.101980T>C (p.Phe33994Leu)
c.101413T>C (p.Phe33805Leu)
c.98755T>C (p.Phe32919Leu)
c.98674T>C (p.Phe32892Leu)
c.80437T>C (p.Phe26813Leu)
c.70291T>C (p.Phe23431Leu)
2g.178527584A>TCA349400146TTN,TTN-AS1c.99838T>A (p.Phe33280Ile)
c.80923T>A (p.Phe26975Ile)
c.80722T>A (p.Phe26908Ile)
c.80347T>A (p.Phe26783Ile)
c.107542T>A (p.Phe35848Ile)
c.102619T>A (p.Phe34207Ile)
n.446+3948A>T
n.219+3948A>T
c.106639T>A (p.Phe35547Ile)
c.80533T>A (p.Phe26845Ile)
c.80392T>A (p.Phe26798Ile)
c.106435T>A (p.Phe35479Ile)
c.101833T>A (p.Phe33945Ile)
c.101830T>A (p.Phe33944Ile)
c.98872T>A (p.Phe32958Ile)
c.80488T>A (p.Phe26830Ile)
c.101983T>A (p.Phe33995Ile)
c.101980T>A (p.Phe33994Ile)
c.101413T>A (p.Phe33805Ile)
c.98755T>A (p.Phe32919Ile)
c.98674T>A (p.Phe32892Ile)
c.80437T>A (p.Phe26813Ile)
c.70291T>A (p.Phe23431Ile)
2g.178527585T>ACA349400148TTN,TTN-AS1c.99837A>T (p.Lys33279Asn)
c.80922A>T (p.Lys26974Asn)
c.80721A>T (p.Lys26907Asn)
c.80346A>T (p.Lys26782Asn)
c.107541A>T (p.Lys35847Asn)
c.102618A>T (p.Lys34206Asn)
n.446+3949T>A
n.219+3949T>A
c.106638A>T (p.Lys35546Asn)
c.80532A>T (p.Lys26844Asn)
c.80391A>T (p.Lys26797Asn)
c.106434A>T (p.Lys35478Asn)
c.101832A>T (p.Lys33944Asn)
c.101829A>T (p.Lys33943Asn)
c.98871A>T (p.Lys32957Asn)
c.80487A>T (p.Lys26829Asn)
c.101982A>T (p.Lys33994Asn)
c.101979A>T (p.Lys33993Asn)
c.101412A>T (p.Lys33804Asn)
c.98754A>T (p.Lys32918Asn)
c.98673A>T (p.Lys32891Asn)
c.80436A>T (p.Lys26812Asn)
c.70290A>T (p.Lys23430Asn)
2g.178527585T>CCA430234415TTN,TTN-AS1c.99837A>G (p.Lys33279=)
c.80922A>G (p.Lys26974=)
c.80721A>G (p.Lys26907=)
c.80346A>G (p.Lys26782=)
c.107541A>G (p.Lys35847=)
c.102618A>G (p.Lys34206=)
n.446+3949T>C
n.219+3949T>C
c.106638A>G (p.Lys35546=)
c.80532A>G (p.Lys26844=)
c.80391A>G (p.Lys26797=)
c.106434A>G (p.Lys35478=)
c.101832A>G (p.Lys33944=)
c.101829A>G (p.Lys33943=)
c.98871A>G (p.Lys32957=)
c.80487A>G (p.Lys26829=)
c.101982A>G (p.Lys33994=)
c.101979A>G (p.Lys33993=)
c.101412A>G (p.Lys33804=)
c.98754A>G (p.Lys32918=)
c.98673A>G (p.Lys32891=)
c.80436A>G (p.Lys26812=)
c.70290A>G (p.Lys23430=)
 ClinVar dbSNP
2g.178527585T>GCA349400147TTN,TTN-AS1c.99837A>C (p.Lys33279Asn)
c.80922A>C (p.Lys26974Asn)
c.80721A>C (p.Lys26907Asn)
c.80346A>C (p.Lys26782Asn)
c.107541A>C (p.Lys35847Asn)
c.102618A>C (p.Lys34206Asn)
n.446+3949T>G
n.219+3949T>G
c.106638A>C (p.Lys35546Asn)
c.80532A>C (p.Lys26844Asn)
c.80391A>C (p.Lys26797Asn)
c.106434A>C (p.Lys35478Asn)
c.101832A>C (p.Lys33944Asn)
c.101829A>C (p.Lys33943Asn)
c.98871A>C (p.Lys32957Asn)
c.80487A>C (p.Lys26829Asn)
c.101982A>C (p.Lys33994Asn)
c.101979A>C (p.Lys33993Asn)
c.101412A>C (p.Lys33804Asn)
c.98754A>C (p.Lys32918Asn)
c.98673A>C (p.Lys32891Asn)
c.80436A>C (p.Lys26812Asn)
c.70290A>C (p.Lys23430Asn)
2g.178527585T=CA1310508259TTN,TTN-AS1c.99837A= (p.Lys33279=)
c.80922A= (p.Lys26974=)
c.80721A= (p.Lys26907=)
c.80346A= (p.Lys26782=)
c.107541A= (p.Lys35847=)
c.102618A= (p.Lys34206=)
n.446+3949T=
n.219+3949T=
c.106638A= (p.Lys35546=)
c.80532A= (p.Lys26844=)
c.80391A= (p.Lys26797=)
c.106434A= (p.Lys35478=)
c.101832A= (p.Lys33944=)
c.101829A= (p.Lys33943=)
c.98871A= (p.Lys32957=)
c.80487A= (p.Lys26829=)
c.101982A= (p.Lys33994=)
c.101979A= (p.Lys33993=)
c.101412A= (p.Lys33804=)
c.98754A= (p.Lys32918=)
c.98673A= (p.Lys32891=)
c.80436A= (p.Lys26812=)
c.70290A= (p.Lys23430=)
2g.178527586T>ACA349400149TTN,TTN-AS1c.99836A>T (p.Lys33279Ile)
c.80921A>T (p.Lys26974Ile)
c.80720A>T (p.Lys26907Ile)
c.80345A>T (p.Lys26782Ile)
c.107540A>T (p.Lys35847Ile)
c.102617A>T (p.Lys34206Ile)
n.446+3950T>A
n.219+3950T>A
c.106637A>T (p.Lys35546Ile)
c.80531A>T (p.Lys26844Ile)
c.80390A>T (p.Lys26797Ile)
c.106433A>T (p.Lys35478Ile)
c.101831A>T (p.Lys33944Ile)
c.101828A>T (p.Lys33943Ile)
c.98870A>T (p.Lys32957Ile)
c.80486A>T (p.Lys26829Ile)
c.101981A>T (p.Lys33994Ile)
c.101978A>T (p.Lys33993Ile)
c.101411A>T (p.Lys33804Ile)
c.98753A>T (p.Lys32918Ile)
c.98672A>T (p.Lys32891Ile)
c.80435A>T (p.Lys26812Ile)
c.70289A>T (p.Lys23430Ile)
2g.178527586T>CCA349400150TTN,TTN-AS1c.99836A>G (p.Lys33279Arg)
c.80921A>G (p.Lys26974Arg)
c.80720A>G (p.Lys26907Arg)
c.80345A>G (p.Lys26782Arg)
c.107540A>G (p.Lys35847Arg)
c.102617A>G (p.Lys34206Arg)
n.446+3950T>C
n.219+3950T>C
c.106637A>G (p.Lys35546Arg)
c.80531A>G (p.Lys26844Arg)
c.80390A>G (p.Lys26797Arg)
c.106433A>G (p.Lys35478Arg)
c.101831A>G (p.Lys33944Arg)
c.101828A>G (p.Lys33943Arg)
c.98870A>G (p.Lys32957Arg)
c.80486A>G (p.Lys26829Arg)
c.101981A>G (p.Lys33994Arg)
c.101978A>G (p.Lys33993Arg)
c.101411A>G (p.Lys33804Arg)
c.98753A>G (p.Lys32918Arg)
c.98672A>G (p.Lys32891Arg)
c.80435A>G (p.Lys26812Arg)
c.70289A>G (p.Lys23430Arg)
 ClinVar dbSNP
2g.178527586T>GCA349400151TTN,TTN-AS1c.99836A>C (p.Lys33279Thr)
c.80921A>C (p.Lys26974Thr)
c.80720A>C (p.Lys26907Thr)
c.80345A>C (p.Lys26782Thr)
c.107540A>C (p.Lys35847Thr)
c.102617A>C (p.Lys34206Thr)
n.446+3950T>G
n.219+3950T>G
c.106637A>C (p.Lys35546Thr)
c.80531A>C (p.Lys26844Thr)
c.80390A>C (p.Lys26797Thr)
c.106433A>C (p.Lys35478Thr)
c.101831A>C (p.Lys33944Thr)
c.101828A>C (p.Lys33943Thr)
c.98870A>C (p.Lys32957Thr)
c.80486A>C (p.Lys26829Thr)
c.101981A>C (p.Lys33994Thr)
c.101978A>C (p.Lys33993Thr)
c.101411A>C (p.Lys33804Thr)
c.98753A>C (p.Lys32918Thr)
c.98672A>C (p.Lys32891Thr)
c.80435A>C (p.Lys26812Thr)
c.70289A>C (p.Lys23430Thr)
2g.178527586T=CA1310508262TTN,TTN-AS1c.99836A= (p.Lys33279=)
c.80921A= (p.Lys26974=)
c.80720A= (p.Lys26907=)
c.80345A= (p.Lys26782=)
c.107540A= (p.Lys35847=)
c.102617A= (p.Lys34206=)
n.446+3950T=
n.219+3950T=
c.106637A= (p.Lys35546=)
c.80531A= (p.Lys26844=)
c.80390A= (p.Lys26797=)
c.106433A= (p.Lys35478=)
c.101831A= (p.Lys33944=)
c.101828A= (p.Lys33943=)
c.98870A= (p.Lys32957=)
c.80486A= (p.Lys26829=)
c.101981A= (p.Lys33994=)
c.101978A= (p.Lys33993=)
c.101411A= (p.Lys33804=)
c.98753A= (p.Lys32918=)
c.98672A= (p.Lys32891=)
c.80435A= (p.Lys26812=)
c.70289A= (p.Lys23430=)
2g.178527587T>ACA349400152TTN,TTN-AS1c.99835A>T (p.Lys33279Ter)
c.80920A>T (p.Lys26974Ter)
c.80719A>T (p.Lys26907Ter)
c.80344A>T (p.Lys26782Ter)
c.107539A>T (p.Lys35847Ter)
c.102616A>T (p.Lys34206Ter)
n.446+3951T>A
n.219+3951T>A
c.106636A>T (p.Lys35546Ter)
c.80530A>T (p.Lys26844Ter)
c.80389A>T (p.Lys26797Ter)
c.106432A>T (p.Lys35478Ter)
c.101830A>T (p.Lys33944Ter)
c.101827A>T (p.Lys33943Ter)
c.98869A>T (p.Lys32957Ter)
c.80485A>T (p.Lys26829Ter)
c.101980A>T (p.Lys33994Ter)
c.101977A>T (p.Lys33993Ter)
c.101410A>T (p.Lys33804Ter)
c.98752A>T (p.Lys32918Ter)
c.98671A>T (p.Lys32891Ter)
c.80434A>T (p.Lys26812Ter)
c.70288A>T (p.Lys23430Ter)
2g.178527587T>CCA349400154TTN,TTN-AS1c.99835A>G (p.Lys33279Glu)
c.80920A>G (p.Lys26974Glu)
c.80719A>G (p.Lys26907Glu)
c.80344A>G (p.Lys26782Glu)
c.107539A>G (p.Lys35847Glu)
c.102616A>G (p.Lys34206Glu)
n.446+3951T>C
n.219+3951T>C
c.106636A>G (p.Lys35546Glu)
c.80530A>G (p.Lys26844Glu)
c.80389A>G (p.Lys26797Glu)
c.106432A>G (p.Lys35478Glu)
c.101830A>G (p.Lys33944Glu)
c.101827A>G (p.Lys33943Glu)
c.98869A>G (p.Lys32957Glu)
c.80485A>G (p.Lys26829Glu)
c.101980A>G (p.Lys33994Glu)
c.101977A>G (p.Lys33993Glu)
c.101410A>G (p.Lys33804Glu)
c.98752A>G (p.Lys32918Glu)
c.98671A>G (p.Lys32891Glu)
c.80434A>G (p.Lys26812Glu)
c.70288A>G (p.Lys23430Glu)
2g.178527587T>GCA349400155TTN,TTN-AS1c.99835A>C (p.Lys33279Gln)
c.80920A>C (p.Lys26974Gln)
c.80719A>C (p.Lys26907Gln)
c.80344A>C (p.Lys26782Gln)
c.107539A>C (p.Lys35847Gln)
c.102616A>C (p.Lys34206Gln)
n.446+3951T>G
n.219+3951T>G
c.106636A>C (p.Lys35546Gln)
c.80530A>C (p.Lys26844Gln)
c.80389A>C (p.Lys26797Gln)
c.106432A>C (p.Lys35478Gln)
c.101830A>C (p.Lys33944Gln)
c.101827A>C (p.Lys33943Gln)
c.98869A>C (p.Lys32957Gln)
c.80485A>C (p.Lys26829Gln)
c.101980A>C (p.Lys33994Gln)
c.101977A>C (p.Lys33993Gln)
c.101410A>C (p.Lys33804Gln)
c.98752A>C (p.Lys32918Gln)
c.98671A>C (p.Lys32891Gln)
c.80434A>C (p.Lys26812Gln)
c.70288A>C (p.Lys23430Gln)
2g.178527588C>ACA349400156TTN,TTN-AS1c.99834G>T (p.Met33278Ile)
c.80919G>T (p.Met26973Ile)
c.80718G>T (p.Met26906Ile)
c.80343G>T (p.Met26781Ile)
c.107538G>T (p.Met35846Ile)
c.102615G>T (p.Met34205Ile)
n.446+3952C>A
n.219+3952C>A
c.106635G>T (p.Met35545Ile)
c.80529G>T (p.Met26843Ile)
c.80388G>T (p.Met26796Ile)
c.106431G>T (p.Met35477Ile)
c.101829G>T (p.Met33943Ile)
c.101826G>T (p.Met33942Ile)
c.98868G>T (p.Met32956Ile)
c.80484G>T (p.Met26828Ile)
c.101979G>T (p.Met33993Ile)
c.101976G>T (p.Met33992Ile)
c.101409G>T (p.Met33803Ile)
c.98751G>T (p.Met32917Ile)
c.98670G>T (p.Met32890Ile)
c.80433G>T (p.Met26811Ile)
c.70287G>T (p.Met23429Ile)
2g.178527588C>GCA349400158TTN,TTN-AS1c.99834G>C (p.Met33278Ile)
c.80919G>C (p.Met26973Ile)
c.80718G>C (p.Met26906Ile)
c.80343G>C (p.Met26781Ile)
c.107538G>C (p.Met35846Ile)
c.102615G>C (p.Met34205Ile)
n.446+3952C>G
n.219+3952C>G
c.106635G>C (p.Met35545Ile)
c.80529G>C (p.Met26843Ile)
c.80388G>C (p.Met26796Ile)
c.106431G>C (p.Met35477Ile)
c.101829G>C (p.Met33943Ile)
c.101826G>C (p.Met33942Ile)
c.98868G>C (p.Met32956Ile)
c.80484G>C (p.Met26828Ile)
c.101979G>C (p.Met33993Ile)
c.101976G>C (p.Met33992Ile)
c.101409G>C (p.Met33803Ile)
c.98751G>C (p.Met32917Ile)
c.98670G>C (p.Met32890Ile)
c.80433G>C (p.Met26811Ile)
c.70287G>C (p.Met23429Ile)
2g.178527588C>TCA349400157TTN,TTN-AS1c.99834G>A (p.Met33278Ile)
c.80919G>A (p.Met26973Ile)
c.80718G>A (p.Met26906Ile)
c.80343G>A (p.Met26781Ile)
c.107538G>A (p.Met35846Ile)
c.102615G>A (p.Met34205Ile)
n.446+3952C>T
n.219+3952C>T
c.106635G>A (p.Met35545Ile)
c.80529G>A (p.Met26843Ile)
c.80388G>A (p.Met26796Ile)
c.106431G>A (p.Met35477Ile)
c.101829G>A (p.Met33943Ile)
c.101826G>A (p.Met33942Ile)
c.98868G>A (p.Met32956Ile)
c.80484G>A (p.Met26828Ile)
c.101979G>A (p.Met33993Ile)
c.101976G>A (p.Met33992Ile)
c.101409G>A (p.Met33803Ile)
c.98751G>A (p.Met32917Ile)
c.98670G>A (p.Met32890Ile)
c.80433G>A (p.Met26811Ile)
c.70287G>A (p.Met23429Ile)
2g.178527589A>CCA349400159TTN,TTN-AS1c.99833T>G (p.Met33278Arg)
c.80918T>G (p.Met26973Arg)
c.80717T>G (p.Met26906Arg)
c.80342T>G (p.Met26781Arg)
c.107537T>G (p.Met35846Arg)
c.102614T>G (p.Met34205Arg)
n.446+3953A>C
n.219+3953A>C
c.106634T>G (p.Met35545Arg)
c.80528T>G (p.Met26843Arg)
c.80387T>G (p.Met26796Arg)
c.106430T>G (p.Met35477Arg)
c.101828T>G (p.Met33943Arg)
c.101825T>G (p.Met33942Arg)
c.98867T>G (p.Met32956Arg)
c.80483T>G (p.Met26828Arg)
c.101978T>G (p.Met33993Arg)
c.101975T>G (p.Met33992Arg)
c.101408T>G (p.Met33803Arg)
c.98750T>G (p.Met32917Arg)
c.98669T>G (p.Met32890Arg)
c.80432T>G (p.Met26811Arg)
c.70286T>G (p.Met23429Arg)
2g.178527589A>GCA349400160TTN,TTN-AS1c.99833T>C (p.Met33278Thr)
c.80918T>C (p.Met26973Thr)
c.80717T>C (p.Met26906Thr)
c.80342T>C (p.Met26781Thr)
c.107537T>C (p.Met35846Thr)
c.102614T>C (p.Met34205Thr)
n.446+3953A>G
n.219+3953A>G
c.106634T>C (p.Met35545Thr)
c.80528T>C (p.Met26843Thr)
c.80387T>C (p.Met26796Thr)
c.106430T>C (p.Met35477Thr)
c.101828T>C (p.Met33943Thr)
c.101825T>C (p.Met33942Thr)
c.98867T>C (p.Met32956Thr)
c.80483T>C (p.Met26828Thr)
c.101978T>C (p.Met33993Thr)
c.101975T>C (p.Met33992Thr)
c.101408T>C (p.Met33803Thr)
c.98750T>C (p.Met32917Thr)
c.98669T>C (p.Met32890Thr)
c.80432T>C (p.Met26811Thr)
c.70286T>C (p.Met23429Thr)
 gnomAD v4
2g.178527589A>TCA349400161TTN,TTN-AS1c.99833T>A (p.Met33278Lys)
c.80918T>A (p.Met26973Lys)
c.80717T>A (p.Met26906Lys)
c.80342T>A (p.Met26781Lys)
c.107537T>A (p.Met35846Lys)
c.102614T>A (p.Met34205Lys)
n.446+3953A>T
n.219+3953A>T
c.106634T>A (p.Met35545Lys)
c.80528T>A (p.Met26843Lys)
c.80387T>A (p.Met26796Lys)
c.106430T>A (p.Met35477Lys)
c.101828T>A (p.Met33943Lys)
c.101825T>A (p.Met33942Lys)
c.98867T>A (p.Met32956Lys)
c.80483T>A (p.Met26828Lys)
c.101978T>A (p.Met33993Lys)
c.101975T>A (p.Met33992Lys)
c.101408T>A (p.Met33803Lys)
c.98750T>A (p.Met32917Lys)
c.98669T>A (p.Met32890Lys)
c.80432T>A (p.Met26811Lys)
c.70286T>A (p.Met23429Lys)
2g.178527590T>ACA349400162TTN,TTN-AS1c.99832A>T (p.Met33278Leu)
c.80917A>T (p.Met26973Leu)
c.80716A>T (p.Met26906Leu)
c.80341A>T (p.Met26781Leu)
c.107536A>T (p.Met35846Leu)
c.102613A>T (p.Met34205Leu)
n.446+3954T>A
n.219+3954T>A
c.106633A>T (p.Met35545Leu)
c.80527A>T (p.Met26843Leu)
c.80386A>T (p.Met26796Leu)
c.106429A>T (p.Met35477Leu)
c.101827A>T (p.Met33943Leu)
c.101824A>T (p.Met33942Leu)
c.98866A>T (p.Met32956Leu)
c.80482A>T (p.Met26828Leu)
c.101977A>T (p.Met33993Leu)
c.101974A>T (p.Met33992Leu)
c.101407A>T (p.Met33803Leu)
c.98749A>T (p.Met32917Leu)
c.98668A>T (p.Met32890Leu)
c.80431A>T (p.Met26811Leu)
c.70285A>T (p.Met23429Leu)
2g.178527590T>CCA349400163TTN,TTN-AS1c.99832A>G (p.Met33278Val)
c.80917A>G (p.Met26973Val)
c.80716A>G (p.Met26906Val)
c.80341A>G (p.Met26781Val)
c.107536A>G (p.Met35846Val)
c.102613A>G (p.Met34205Val)
n.446+3954T>C
n.219+3954T>C
c.106633A>G (p.Met35545Val)
c.80527A>G (p.Met26843Val)
c.80386A>G (p.Met26796Val)
c.106429A>G (p.Met35477Val)
c.101827A>G (p.Met33943Val)
c.101824A>G (p.Met33942Val)
c.98866A>G (p.Met32956Val)
c.80482A>G (p.Met26828Val)
c.101977A>G (p.Met33993Val)
c.101974A>G (p.Met33992Val)
c.101407A>G (p.Met33803Val)
c.98749A>G (p.Met32917Val)
c.98668A>G (p.Met32890Val)
c.80431A>G (p.Met26811Val)
c.70285A>G (p.Met23429Val)
2g.178527590T>GCA349400164TTN,TTN-AS1c.99832A>C (p.Met33278Leu)
c.80917A>C (p.Met26973Leu)
c.80716A>C (p.Met26906Leu)
c.80341A>C (p.Met26781Leu)
c.107536A>C (p.Met35846Leu)
c.102613A>C (p.Met34205Leu)
n.446+3954T>G
n.219+3954T>G
c.106633A>C (p.Met35545Leu)
c.80527A>C (p.Met26843Leu)
c.80386A>C (p.Met26796Leu)
c.106429A>C (p.Met35477Leu)
c.101827A>C (p.Met33943Leu)
c.101824A>C (p.Met33942Leu)
c.98866A>C (p.Met32956Leu)
c.80482A>C (p.Met26828Leu)
c.101977A>C (p.Met33993Leu)
c.101974A>C (p.Met33992Leu)
c.101407A>C (p.Met33803Leu)
c.98749A>C (p.Met32917Leu)
c.98668A>C (p.Met32890Leu)
c.80431A>C (p.Met26811Leu)
c.70285A>C (p.Met23429Leu)
2g.178527591C>ACA349400165TTN,TTN-AS1c.99831G>T (p.Glu33277Asp)
c.80916G>T (p.Glu26972Asp)
c.80715G>T (p.Glu26905Asp)
c.80340G>T (p.Glu26780Asp)
c.107535G>T (p.Glu35845Asp)
c.102612G>T (p.Glu34204Asp)
n.446+3955C>A
n.219+3955C>A
c.106632G>T (p.Glu35544Asp)
c.80526G>T (p.Glu26842Asp)
c.80385G>T (p.Glu26795Asp)
c.106428G>T (p.Glu35476Asp)
c.101826G>T (p.Glu33942Asp)
c.101823G>T (p.Glu33941Asp)
c.98865G>T (p.Glu32955Asp)
c.80481G>T (p.Glu26827Asp)
c.101976G>T (p.Glu33992Asp)
c.101973G>T (p.Glu33991Asp)
c.101406G>T (p.Glu33802Asp)
c.98748G>T (p.Glu32916Asp)
c.98667G>T (p.Glu32889Asp)
c.80430G>T (p.Glu26810Asp)
c.70284G>T (p.Glu23428Asp)
2g.178527591C=CA1310508267TTN,TTN-AS1c.99831G= (p.Glu33277=)
c.80916G= (p.Glu26972=)
c.80715G= (p.Glu26905=)
c.80340G= (p.Glu26780=)
c.107535G= (p.Glu35845=)
c.102612G= (p.Glu34204=)
n.446+3955C=
n.219+3955C=
c.106632G= (p.Glu35544=)
c.80526G= (p.Glu26842=)
c.80385G= (p.Glu26795=)
c.106428G= (p.Glu35476=)
c.101826G= (p.Glu33942=)
c.101823G= (p.Glu33941=)
c.98865G= (p.Glu32955=)
c.80481G= (p.Glu26827=)
c.101976G= (p.Glu33992=)
c.101973G= (p.Glu33991=)
c.101406G= (p.Glu33802=)
c.98748G= (p.Glu32916=)
c.98667G= (p.Glu32889=)
c.80430G= (p.Glu26810=)
c.70284G= (p.Glu23428=)
2g.178527591C>GCA349400166TTN,TTN-AS1c.99831G>C (p.Glu33277Asp)
c.80916G>C (p.Glu26972Asp)
c.80715G>C (p.Glu26905Asp)
c.80340G>C (p.Glu26780Asp)
c.107535G>C (p.Glu35845Asp)
c.102612G>C (p.Glu34204Asp)
n.446+3955C>G
n.219+3955C>G
c.106632G>C (p.Glu35544Asp)
c.80526G>C (p.Glu26842Asp)
c.80385G>C (p.Glu26795Asp)
c.106428G>C (p.Glu35476Asp)
c.101826G>C (p.Glu33942Asp)
c.101823G>C (p.Glu33941Asp)
c.98865G>C (p.Glu32955Asp)
c.80481G>C (p.Glu26827Asp)
c.101976G>C (p.Glu33992Asp)
c.101973G>C (p.Glu33991Asp)
c.101406G>C (p.Glu33802Asp)
c.98748G>C (p.Glu32916Asp)
c.98667G>C (p.Glu32889Asp)
c.80430G>C (p.Glu26810Asp)
c.70284G>C (p.Glu23428Asp)
2g.178527591C>TCA430234433TTN,TTN-AS1c.99831G>A (p.Glu33277=)
c.80916G>A (p.Glu26972=)
c.80715G>A (p.Glu26905=)
c.80340G>A (p.Glu26780=)
c.107535G>A (p.Glu35845=)
c.102612G>A (p.Glu34204=)
n.446+3955C>T
n.219+3955C>T
c.106632G>A (p.Glu35544=)
c.80526G>A (p.Glu26842=)
c.80385G>A (p.Glu26795=)
c.106428G>A (p.Glu35476=)
c.101826G>A (p.Glu33942=)
c.101823G>A (p.Glu33941=)
c.98865G>A (p.Glu32955=)
c.80481G>A (p.Glu26827=)
c.101976G>A (p.Glu33992=)
c.101973G>A (p.Glu33991=)
c.101406G>A (p.Glu33802=)
c.98748G>A (p.Glu32916=)
c.98667G>A (p.Glu32889=)
c.80430G>A (p.Glu26810=)
c.70284G>A (p.Glu23428=)
 ClinVar dbSNP

Number of alleles fetched