Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178531864A>CCA430235508TTN,TTN-AS1c.97047T>G (p.Ala32349=)
c.78132T>G (p.Ala26044=)
c.77931T>G (p.Ala25977=)
c.77556T>G (p.Ala25852=)
c.104751T>G (p.Ala34917=)
c.99828T>G (p.Ala33276=)
n.446+8228A>C
n.220-3868A>C
c.103848T>G (p.Ala34616=)
c.77742T>G (p.Ala25914=)
c.77601T>G (p.Ala25867=)
c.103644T>G (p.Ala34548=)
c.99042T>G (p.Ala33014=)
c.99039T>G (p.Ala33013=)
c.96081T>G (p.Ala32027=)
c.77697T>G (p.Ala25899=)
c.99192T>G (p.Ala33064=)
c.99189T>G (p.Ala33063=)
c.98622T>G (p.Ala32874=)
c.95964T>G (p.Ala31988=)
c.95883T>G (p.Ala31961=)
c.77646T>G (p.Ala25882=)
c.67500T>G (p.Ala22500=)
 ClinVar dbSNP
2g.178531864A>GCA430235509TTN,TTN-AS1c.97047T>C (p.Ala32349=)
c.78132T>C (p.Ala26044=)
c.77931T>C (p.Ala25977=)
c.77556T>C (p.Ala25852=)
c.104751T>C (p.Ala34917=)
c.99828T>C (p.Ala33276=)
n.446+8228A>G
n.220-3868A>G
c.103848T>C (p.Ala34616=)
c.77742T>C (p.Ala25914=)
c.77601T>C (p.Ala25867=)
c.103644T>C (p.Ala34548=)
c.99042T>C (p.Ala33014=)
c.99039T>C (p.Ala33013=)
c.96081T>C (p.Ala32027=)
c.77697T>C (p.Ala25899=)
c.99192T>C (p.Ala33064=)
c.99189T>C (p.Ala33063=)
c.98622T>C (p.Ala32874=)
c.95964T>C (p.Ala31988=)
c.95883T>C (p.Ala31961=)
c.77646T>C (p.Ala25882=)
c.67500T>C (p.Ala22500=)
 ClinVar
2g.178531864A>TCA430235510TTN,TTN-AS1c.97047T>A (p.Ala32349=)
c.78132T>A (p.Ala26044=)
c.77931T>A (p.Ala25977=)
c.77556T>A (p.Ala25852=)
c.104751T>A (p.Ala34917=)
c.99828T>A (p.Ala33276=)
n.446+8228A>T
n.220-3868A>T
c.103848T>A (p.Ala34616=)
c.77742T>A (p.Ala25914=)
c.77601T>A (p.Ala25867=)
c.103644T>A (p.Ala34548=)
c.99042T>A (p.Ala33014=)
c.99039T>A (p.Ala33013=)
c.96081T>A (p.Ala32027=)
c.77697T>A (p.Ala25899=)
c.99192T>A (p.Ala33064=)
c.99189T>A (p.Ala33063=)
c.98622T>A (p.Ala32874=)
c.95964T>A (p.Ala31988=)
c.95883T>A (p.Ala31961=)
c.77646T>A (p.Ala25882=)
c.67500T>A (p.Ala22500=)
2g.178531865G>ACA1985366TTN,TTN-AS1c.97046C>T (p.Ala32349Val)
c.78131C>T (p.Ala26044Val)
c.77930C>T (p.Ala25977Val)
c.77555C>T (p.Ala25852Val)
c.104750C>T (p.Ala34917Val)
c.99827C>T (p.Ala33276Val)
n.446+8229G>A
n.220-3867G>A
c.103847C>T (p.Ala34616Val)
c.77741C>T (p.Ala25914Val)
c.77600C>T (p.Ala25867Val)
c.103643C>T (p.Ala34548Val)
c.99041C>T (p.Ala33014Val)
c.99038C>T (p.Ala33013Val)
c.96080C>T (p.Ala32027Val)
c.77696C>T (p.Ala25899Val)
c.99191C>T (p.Ala33064Val)
c.99188C>T (p.Ala33063Val)
c.98621C>T (p.Ala32874Val)
c.95963C>T (p.Ala31988Val)
c.95882C>T (p.Ala31961Val)
c.77645C>T (p.Ala25882Val)
c.67499C>T (p.Ala22500Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531865G>CCA349411007TTN,TTN-AS1c.97046C>G (p.Ala32349Gly)
c.78131C>G (p.Ala26044Gly)
c.77930C>G (p.Ala25977Gly)
c.77555C>G (p.Ala25852Gly)
c.104750C>G (p.Ala34917Gly)
c.99827C>G (p.Ala33276Gly)
n.446+8229G>C
n.220-3867G>C
c.103847C>G (p.Ala34616Gly)
c.77741C>G (p.Ala25914Gly)
c.77600C>G (p.Ala25867Gly)
c.103643C>G (p.Ala34548Gly)
c.99041C>G (p.Ala33014Gly)
c.99038C>G (p.Ala33013Gly)
c.96080C>G (p.Ala32027Gly)
c.77696C>G (p.Ala25899Gly)
c.99191C>G (p.Ala33064Gly)
c.99188C>G (p.Ala33063Gly)
c.98621C>G (p.Ala32874Gly)
c.95963C>G (p.Ala31988Gly)
c.95882C>G (p.Ala31961Gly)
c.77645C>G (p.Ala25882Gly)
c.67499C>G (p.Ala22500Gly)
2g.178531865G=CA1310517954TTN,TTN-AS1c.97046C= (p.Ala32349=)
c.78131C= (p.Ala26044=)
c.77930C= (p.Ala25977=)
c.77555C= (p.Ala25852=)
c.104750C= (p.Ala34917=)
c.99827C= (p.Ala33276=)
n.446+8229G=
n.220-3867G=
c.103847C= (p.Ala34616=)
c.77741C= (p.Ala25914=)
c.77600C= (p.Ala25867=)
c.103643C= (p.Ala34548=)
c.99041C= (p.Ala33014=)
c.99038C= (p.Ala33013=)
c.96080C= (p.Ala32027=)
c.77696C= (p.Ala25899=)
c.99191C= (p.Ala33064=)
c.99188C= (p.Ala33063=)
c.98621C= (p.Ala32874=)
c.95963C= (p.Ala31988=)
c.95882C= (p.Ala31961=)
c.77645C= (p.Ala25882=)
c.67499C= (p.Ala22500=)
2g.178531865G>TCA349411006TTN,TTN-AS1c.97046C>A (p.Ala32349Asp)
c.78131C>A (p.Ala26044Asp)
c.77930C>A (p.Ala25977Asp)
c.77555C>A (p.Ala25852Asp)
c.104750C>A (p.Ala34917Asp)
c.99827C>A (p.Ala33276Asp)
n.446+8229G>T
n.220-3867G>T
c.103847C>A (p.Ala34616Asp)
c.77741C>A (p.Ala25914Asp)
c.77600C>A (p.Ala25867Asp)
c.103643C>A (p.Ala34548Asp)
c.99041C>A (p.Ala33014Asp)
c.99038C>A (p.Ala33013Asp)
c.96080C>A (p.Ala32027Asp)
c.77696C>A (p.Ala25899Asp)
c.99191C>A (p.Ala33064Asp)
c.99188C>A (p.Ala33063Asp)
c.98621C>A (p.Ala32874Asp)
c.95963C>A (p.Ala31988Asp)
c.95882C>A (p.Ala31961Asp)
c.77645C>A (p.Ala25882Asp)
c.67499C>A (p.Ala22500Asp)
2g.178531866C>ACA349411008TTN,TTN-AS1c.97045G>T (p.Ala32349Ser)
c.78130G>T (p.Ala26044Ser)
c.77929G>T (p.Ala25977Ser)
c.77554G>T (p.Ala25852Ser)
c.104749G>T (p.Ala34917Ser)
c.99826G>T (p.Ala33276Ser)
n.446+8230C>A
n.220-3866C>A
c.103846G>T (p.Ala34616Ser)
c.77740G>T (p.Ala25914Ser)
c.77599G>T (p.Ala25867Ser)
c.103642G>T (p.Ala34548Ser)
c.99040G>T (p.Ala33014Ser)
c.99037G>T (p.Ala33013Ser)
c.96079G>T (p.Ala32027Ser)
c.77695G>T (p.Ala25899Ser)
c.99190G>T (p.Ala33064Ser)
c.99187G>T (p.Ala33063Ser)
c.98620G>T (p.Ala32874Ser)
c.95962G>T (p.Ala31988Ser)
c.95881G>T (p.Ala31961Ser)
c.77644G>T (p.Ala25882Ser)
c.67498G>T (p.Ala22500Ser)
2g.178531866C>GCA349411010TTN,TTN-AS1c.97045G>C (p.Ala32349Pro)
c.78130G>C (p.Ala26044Pro)
c.77929G>C (p.Ala25977Pro)
c.77554G>C (p.Ala25852Pro)
c.104749G>C (p.Ala34917Pro)
c.99826G>C (p.Ala33276Pro)
n.446+8230C>G
n.220-3866C>G
c.103846G>C (p.Ala34616Pro)
c.77740G>C (p.Ala25914Pro)
c.77599G>C (p.Ala25867Pro)
c.103642G>C (p.Ala34548Pro)
c.99040G>C (p.Ala33014Pro)
c.99037G>C (p.Ala33013Pro)
c.96079G>C (p.Ala32027Pro)
c.77695G>C (p.Ala25899Pro)
c.99190G>C (p.Ala33064Pro)
c.99187G>C (p.Ala33063Pro)
c.98620G>C (p.Ala32874Pro)
c.95962G>C (p.Ala31988Pro)
c.95881G>C (p.Ala31961Pro)
c.77644G>C (p.Ala25882Pro)
c.67498G>C (p.Ala22500Pro)
2g.178531866C>TCA349411009TTN,TTN-AS1c.97045G>A (p.Ala32349Thr)
c.78130G>A (p.Ala26044Thr)
c.77929G>A (p.Ala25977Thr)
c.77554G>A (p.Ala25852Thr)
c.104749G>A (p.Ala34917Thr)
c.99826G>A (p.Ala33276Thr)
n.446+8230C>T
n.220-3866C>T
c.103846G>A (p.Ala34616Thr)
c.77740G>A (p.Ala25914Thr)
c.77599G>A (p.Ala25867Thr)
c.103642G>A (p.Ala34548Thr)
c.99040G>A (p.Ala33014Thr)
c.99037G>A (p.Ala33013Thr)
c.96079G>A (p.Ala32027Thr)
c.77695G>A (p.Ala25899Thr)
c.99190G>A (p.Ala33064Thr)
c.99187G>A (p.Ala33063Thr)
c.98620G>A (p.Ala32874Thr)
c.95962G>A (p.Ala31988Thr)
c.95881G>A (p.Ala31961Thr)
c.77644G>A (p.Ala25882Thr)
c.67498G>A (p.Ala22500Thr)
2g.178531867A>CCA430235515TTN,TTN-AS1c.97044T>G (p.Ala32348=)
c.78129T>G (p.Ala26043=)
c.77928T>G (p.Ala25976=)
c.77553T>G (p.Ala25851=)
c.104748T>G (p.Ala34916=)
c.99825T>G (p.Ala33275=)
n.446+8231A>C
n.220-3865A>C
c.103845T>G (p.Ala34615=)
c.77739T>G (p.Ala25913=)
c.77598T>G (p.Ala25866=)
c.103641T>G (p.Ala34547=)
c.99039T>G (p.Ala33013=)
c.99036T>G (p.Ala33012=)
c.96078T>G (p.Ala32026=)
c.77694T>G (p.Ala25898=)
c.99189T>G (p.Ala33063=)
c.99186T>G (p.Ala33062=)
c.98619T>G (p.Ala32873=)
c.95961T>G (p.Ala31987=)
c.95880T>G (p.Ala31960=)
c.77643T>G (p.Ala25881=)
c.67497T>G (p.Ala22499=)
2g.178531867A>GCA430235516TTN,TTN-AS1c.97044T>C (p.Ala32348=)
c.78129T>C (p.Ala26043=)
c.77928T>C (p.Ala25976=)
c.77553T>C (p.Ala25851=)
c.104748T>C (p.Ala34916=)
c.99825T>C (p.Ala33275=)
n.446+8231A>G
n.220-3865A>G
c.103845T>C (p.Ala34615=)
c.77739T>C (p.Ala25913=)
c.77598T>C (p.Ala25866=)
c.103641T>C (p.Ala34547=)
c.99039T>C (p.Ala33013=)
c.99036T>C (p.Ala33012=)
c.96078T>C (p.Ala32026=)
c.77694T>C (p.Ala25898=)
c.99189T>C (p.Ala33063=)
c.99186T>C (p.Ala33062=)
c.98619T>C (p.Ala32873=)
c.95961T>C (p.Ala31987=)
c.95880T>C (p.Ala31960=)
c.77643T>C (p.Ala25881=)
c.67497T>C (p.Ala22499=)
2g.178531867A>TCA430235517TTN,TTN-AS1c.97044T>A (p.Ala32348=)
c.78129T>A (p.Ala26043=)
c.77928T>A (p.Ala25976=)
c.77553T>A (p.Ala25851=)
c.104748T>A (p.Ala34916=)
c.99825T>A (p.Ala33275=)
n.446+8231A>T
n.220-3865A>T
c.103845T>A (p.Ala34615=)
c.77739T>A (p.Ala25913=)
c.77598T>A (p.Ala25866=)
c.103641T>A (p.Ala34547=)
c.99039T>A (p.Ala33013=)
c.99036T>A (p.Ala33012=)
c.96078T>A (p.Ala32026=)
c.77694T>A (p.Ala25898=)
c.99189T>A (p.Ala33063=)
c.99186T>A (p.Ala33062=)
c.98619T>A (p.Ala32873=)
c.95961T>A (p.Ala31987=)
c.95880T>A (p.Ala31960=)
c.77643T>A (p.Ala25881=)
c.67497T>A (p.Ala22499=)
2g.178531868G>ACA349411011TTN,TTN-AS1c.97043C>T (p.Ala32348Val)
c.78128C>T (p.Ala26043Val)
c.77927C>T (p.Ala25976Val)
c.77552C>T (p.Ala25851Val)
c.104747C>T (p.Ala34916Val)
c.99824C>T (p.Ala33275Val)
n.446+8232G>A
n.220-3864G>A
c.103844C>T (p.Ala34615Val)
c.77738C>T (p.Ala25913Val)
c.77597C>T (p.Ala25866Val)
c.103640C>T (p.Ala34547Val)
c.99038C>T (p.Ala33013Val)
c.99035C>T (p.Ala33012Val)
c.96077C>T (p.Ala32026Val)
c.77693C>T (p.Ala25898Val)
c.99188C>T (p.Ala33063Val)
c.99185C>T (p.Ala33062Val)
c.98618C>T (p.Ala32873Val)
c.95960C>T (p.Ala31987Val)
c.95879C>T (p.Ala31960Val)
c.77642C>T (p.Ala25881Val)
c.67496C>T (p.Ala22499Val)
 ClinVar gnomAD v4
2g.178531868G>CCA349411012TTN,TTN-AS1c.97043C>G (p.Ala32348Gly)
c.78128C>G (p.Ala26043Gly)
c.77927C>G (p.Ala25976Gly)
c.77552C>G (p.Ala25851Gly)
c.104747C>G (p.Ala34916Gly)
c.99824C>G (p.Ala33275Gly)
n.446+8232G>C
n.220-3864G>C
c.103844C>G (p.Ala34615Gly)
c.77738C>G (p.Ala25913Gly)
c.77597C>G (p.Ala25866Gly)
c.103640C>G (p.Ala34547Gly)
c.99038C>G (p.Ala33013Gly)
c.99035C>G (p.Ala33012Gly)
c.96077C>G (p.Ala32026Gly)
c.77693C>G (p.Ala25898Gly)
c.99188C>G (p.Ala33063Gly)
c.99185C>G (p.Ala33062Gly)
c.98618C>G (p.Ala32873Gly)
c.95960C>G (p.Ala31987Gly)
c.95879C>G (p.Ala31960Gly)
c.77642C>G (p.Ala25881Gly)
c.67496C>G (p.Ala22499Gly)
2g.178531868G>TCA349411013TTN,TTN-AS1c.97043C>A (p.Ala32348Asp)
c.78128C>A (p.Ala26043Asp)
c.77927C>A (p.Ala25976Asp)
c.77552C>A (p.Ala25851Asp)
c.104747C>A (p.Ala34916Asp)
c.99824C>A (p.Ala33275Asp)
n.446+8232G>T
n.220-3864G>T
c.103844C>A (p.Ala34615Asp)
c.77738C>A (p.Ala25913Asp)
c.77597C>A (p.Ala25866Asp)
c.103640C>A (p.Ala34547Asp)
c.99038C>A (p.Ala33013Asp)
c.99035C>A (p.Ala33012Asp)
c.96077C>A (p.Ala32026Asp)
c.77693C>A (p.Ala25898Asp)
c.99188C>A (p.Ala33063Asp)
c.99185C>A (p.Ala33062Asp)
c.98618C>A (p.Ala32873Asp)
c.95960C>A (p.Ala31987Asp)
c.95879C>A (p.Ala31960Asp)
c.77642C>A (p.Ala25881Asp)
c.67496C>A (p.Ala22499Asp)
2g.178531869C>ACA349411014TTN,TTN-AS1c.97042G>T (p.Ala32348Ser)
c.78127G>T (p.Ala26043Ser)
c.77926G>T (p.Ala25976Ser)
c.77551G>T (p.Ala25851Ser)
c.104746G>T (p.Ala34916Ser)
c.99823G>T (p.Ala33275Ser)
n.446+8233C>A
n.220-3863C>A
c.103843G>T (p.Ala34615Ser)
c.77737G>T (p.Ala25913Ser)
c.77596G>T (p.Ala25866Ser)
c.103639G>T (p.Ala34547Ser)
c.99037G>T (p.Ala33013Ser)
c.99034G>T (p.Ala33012Ser)
c.96076G>T (p.Ala32026Ser)
c.77692G>T (p.Ala25898Ser)
c.99187G>T (p.Ala33063Ser)
c.99184G>T (p.Ala33062Ser)
c.98617G>T (p.Ala32873Ser)
c.95959G>T (p.Ala31987Ser)
c.95878G>T (p.Ala31960Ser)
c.77641G>T (p.Ala25881Ser)
c.67495G>T (p.Ala22499Ser)
2g.178531869C=CA1310517955TTN,TTN-AS1c.97042G= (p.Ala32348=)
c.78127G= (p.Ala26043=)
c.77926G= (p.Ala25976=)
c.77551G= (p.Ala25851=)
c.104746G= (p.Ala34916=)
c.99823G= (p.Ala33275=)
n.446+8233C=
n.220-3863C=
c.103843G= (p.Ala34615=)
c.77737G= (p.Ala25913=)
c.77596G= (p.Ala25866=)
c.103639G= (p.Ala34547=)
c.99037G= (p.Ala33013=)
c.99034G= (p.Ala33012=)
c.96076G= (p.Ala32026=)
c.77692G= (p.Ala25898=)
c.99187G= (p.Ala33063=)
c.99184G= (p.Ala33062=)
c.98617G= (p.Ala32873=)
c.95959G= (p.Ala31987=)
c.95878G= (p.Ala31960=)
c.77641G= (p.Ala25881=)
c.67495G= (p.Ala22499=)
2g.178531869C>GCA349411015TTN,TTN-AS1c.97042G>C (p.Ala32348Pro)
c.78127G>C (p.Ala26043Pro)
c.77926G>C (p.Ala25976Pro)
c.77551G>C (p.Ala25851Pro)
c.104746G>C (p.Ala34916Pro)
c.99823G>C (p.Ala33275Pro)
n.446+8233C>G
n.220-3863C>G
c.103843G>C (p.Ala34615Pro)
c.77737G>C (p.Ala25913Pro)
c.77596G>C (p.Ala25866Pro)
c.103639G>C (p.Ala34547Pro)
c.99037G>C (p.Ala33013Pro)
c.99034G>C (p.Ala33012Pro)
c.96076G>C (p.Ala32026Pro)
c.77692G>C (p.Ala25898Pro)
c.99187G>C (p.Ala33063Pro)
c.99184G>C (p.Ala33062Pro)
c.98617G>C (p.Ala32873Pro)
c.95959G>C (p.Ala31987Pro)
c.95878G>C (p.Ala31960Pro)
c.77641G>C (p.Ala25881Pro)
c.67495G>C (p.Ala22499Pro)
2g.178531869C>TCA1985367TTN,TTN-AS1c.97042G>A (p.Ala32348Thr)
c.78127G>A (p.Ala26043Thr)
c.77926G>A (p.Ala25976Thr)
c.77551G>A (p.Ala25851Thr)
c.104746G>A (p.Ala34916Thr)
c.99823G>A (p.Ala33275Thr)
n.446+8233C>T
n.220-3863C>T
c.103843G>A (p.Ala34615Thr)
c.77737G>A (p.Ala25913Thr)
c.77596G>A (p.Ala25866Thr)
c.103639G>A (p.Ala34547Thr)
c.99037G>A (p.Ala33013Thr)
c.99034G>A (p.Ala33012Thr)
c.96076G>A (p.Ala32026Thr)
c.77692G>A (p.Ala25898Thr)
c.99187G>A (p.Ala33063Thr)
c.99184G>A (p.Ala33062Thr)
c.98617G>A (p.Ala32873Thr)
c.95959G>A (p.Ala31987Thr)
c.95878G>A (p.Ala31960Thr)
c.77641G>A (p.Ala25881Thr)
c.67495G>A (p.Ala22499Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531870T>ACA349411016TTN,TTN-AS1c.97041A>T (p.Lys32347Asn)
c.78126A>T (p.Lys26042Asn)
c.77925A>T (p.Lys25975Asn)
c.77550A>T (p.Lys25850Asn)
c.104745A>T (p.Lys34915Asn)
c.99822A>T (p.Lys33274Asn)
n.446+8234T>A
n.220-3862T>A
c.103842A>T (p.Lys34614Asn)
c.77736A>T (p.Lys25912Asn)
c.77595A>T (p.Lys25865Asn)
c.103638A>T (p.Lys34546Asn)
c.99036A>T (p.Lys33012Asn)
c.99033A>T (p.Lys33011Asn)
c.96075A>T (p.Lys32025Asn)
c.77691A>T (p.Lys25897Asn)
c.99186A>T (p.Lys33062Asn)
c.99183A>T (p.Lys33061Asn)
c.98616A>T (p.Lys32872Asn)
c.95958A>T (p.Lys31986Asn)
c.95877A>T (p.Lys31959Asn)
c.77640A>T (p.Lys25880Asn)
c.67494A>T (p.Lys22498Asn)
2g.178531870T>CCA430235521TTN,TTN-AS1c.97041A>G (p.Lys32347=)
c.78126A>G (p.Lys26042=)
c.77925A>G (p.Lys25975=)
c.77550A>G (p.Lys25850=)
c.104745A>G (p.Lys34915=)
c.99822A>G (p.Lys33274=)
n.446+8234T>C
n.220-3862T>C
c.103842A>G (p.Lys34614=)
c.77736A>G (p.Lys25912=)
c.77595A>G (p.Lys25865=)
c.103638A>G (p.Lys34546=)
c.99036A>G (p.Lys33012=)
c.99033A>G (p.Lys33011=)
c.96075A>G (p.Lys32025=)
c.77691A>G (p.Lys25897=)
c.99186A>G (p.Lys33062=)
c.99183A>G (p.Lys33061=)
c.98616A>G (p.Lys32872=)
c.95958A>G (p.Lys31986=)
c.95877A>G (p.Lys31959=)
c.77640A>G (p.Lys25880=)
c.67494A>G (p.Lys22498=)
2g.178531870T>GCA349411017TTN,TTN-AS1c.97041A>C (p.Lys32347Asn)
c.78126A>C (p.Lys26042Asn)
c.77925A>C (p.Lys25975Asn)
c.77550A>C (p.Lys25850Asn)
c.104745A>C (p.Lys34915Asn)
c.99822A>C (p.Lys33274Asn)
n.446+8234T>G
n.220-3862T>G
c.103842A>C (p.Lys34614Asn)
c.77736A>C (p.Lys25912Asn)
c.77595A>C (p.Lys25865Asn)
c.103638A>C (p.Lys34546Asn)
c.99036A>C (p.Lys33012Asn)
c.99033A>C (p.Lys33011Asn)
c.96075A>C (p.Lys32025Asn)
c.77691A>C (p.Lys25897Asn)
c.99186A>C (p.Lys33062Asn)
c.99183A>C (p.Lys33061Asn)
c.98616A>C (p.Lys32872Asn)
c.95958A>C (p.Lys31986Asn)
c.95877A>C (p.Lys31959Asn)
c.77640A>C (p.Lys25880Asn)
c.67494A>C (p.Lys22498Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531870T=CA1310517956TTN,TTN-AS1c.97041A= (p.Lys32347=)
c.78126A= (p.Lys26042=)
c.77925A= (p.Lys25975=)
c.77550A= (p.Lys25850=)
c.104745A= (p.Lys34915=)
c.99822A= (p.Lys33274=)
n.446+8234T=
n.220-3862T=
c.103842A= (p.Lys34614=)
c.77736A= (p.Lys25912=)
c.77595A= (p.Lys25865=)
c.103638A= (p.Lys34546=)
c.99036A= (p.Lys33012=)
c.99033A= (p.Lys33011=)
c.96075A= (p.Lys32025=)
c.77691A= (p.Lys25897=)
c.99186A= (p.Lys33062=)
c.99183A= (p.Lys33061=)
c.98616A= (p.Lys32872=)
c.95958A= (p.Lys31986=)
c.95877A= (p.Lys31959=)
c.77640A= (p.Lys25880=)
c.67494A= (p.Lys22498=)
2g.178531871T>ACA349411018TTN,TTN-AS1c.97040A>T (p.Lys32347Ile)
c.78125A>T (p.Lys26042Ile)
c.77924A>T (p.Lys25975Ile)
c.77549A>T (p.Lys25850Ile)
c.104744A>T (p.Lys34915Ile)
c.99821A>T (p.Lys33274Ile)
n.446+8235T>A
n.220-3861T>A
c.103841A>T (p.Lys34614Ile)
c.77735A>T (p.Lys25912Ile)
c.77594A>T (p.Lys25865Ile)
c.103637A>T (p.Lys34546Ile)
c.99035A>T (p.Lys33012Ile)
c.99032A>T (p.Lys33011Ile)
c.96074A>T (p.Lys32025Ile)
c.77690A>T (p.Lys25897Ile)
c.99185A>T (p.Lys33062Ile)
c.99182A>T (p.Lys33061Ile)
c.98615A>T (p.Lys32872Ile)
c.95957A>T (p.Lys31986Ile)
c.95876A>T (p.Lys31959Ile)
c.77639A>T (p.Lys25880Ile)
c.67493A>T (p.Lys22498Ile)
2g.178531871T>CCA349411019TTN,TTN-AS1c.97040A>G (p.Lys32347Arg)
c.78125A>G (p.Lys26042Arg)
c.77924A>G (p.Lys25975Arg)
c.77549A>G (p.Lys25850Arg)
c.104744A>G (p.Lys34915Arg)
c.99821A>G (p.Lys33274Arg)
n.446+8235T>C
n.220-3861T>C
c.103841A>G (p.Lys34614Arg)
c.77735A>G (p.Lys25912Arg)
c.77594A>G (p.Lys25865Arg)
c.103637A>G (p.Lys34546Arg)
c.99035A>G (p.Lys33012Arg)
c.99032A>G (p.Lys33011Arg)
c.96074A>G (p.Lys32025Arg)
c.77690A>G (p.Lys25897Arg)
c.99185A>G (p.Lys33062Arg)
c.99182A>G (p.Lys33061Arg)
c.98615A>G (p.Lys32872Arg)
c.95957A>G (p.Lys31986Arg)
c.95876A>G (p.Lys31959Arg)
c.77639A>G (p.Lys25880Arg)
c.67493A>G (p.Lys22498Arg)
2g.178531871T>GCA349411020TTN,TTN-AS1c.97040A>C (p.Lys32347Thr)
c.78125A>C (p.Lys26042Thr)
c.77924A>C (p.Lys25975Thr)
c.77549A>C (p.Lys25850Thr)
c.104744A>C (p.Lys34915Thr)
c.99821A>C (p.Lys33274Thr)
n.446+8235T>G
n.220-3861T>G
c.103841A>C (p.Lys34614Thr)
c.77735A>C (p.Lys25912Thr)
c.77594A>C (p.Lys25865Thr)
c.103637A>C (p.Lys34546Thr)
c.99035A>C (p.Lys33012Thr)
c.99032A>C (p.Lys33011Thr)
c.96074A>C (p.Lys32025Thr)
c.77690A>C (p.Lys25897Thr)
c.99185A>C (p.Lys33062Thr)
c.99182A>C (p.Lys33061Thr)
c.98615A>C (p.Lys32872Thr)
c.95957A>C (p.Lys31986Thr)
c.95876A>C (p.Lys31959Thr)
c.77639A>C (p.Lys25880Thr)
c.67493A>C (p.Lys22498Thr)
2g.178531872T>ACA349411023TTN,TTN-AS1c.97039A>T (p.Lys32347Ter)
c.78124A>T (p.Lys26042Ter)
c.77923A>T (p.Lys25975Ter)
c.77548A>T (p.Lys25850Ter)
c.104743A>T (p.Lys34915Ter)
c.99820A>T (p.Lys33274Ter)
n.446+8236T>A
n.220-3860T>A
c.103840A>T (p.Lys34614Ter)
c.77734A>T (p.Lys25912Ter)
c.77593A>T (p.Lys25865Ter)
c.103636A>T (p.Lys34546Ter)
c.99034A>T (p.Lys33012Ter)
c.99031A>T (p.Lys33011Ter)
c.96073A>T (p.Lys32025Ter)
c.77689A>T (p.Lys25897Ter)
c.99184A>T (p.Lys33062Ter)
c.99181A>T (p.Lys33061Ter)
c.98614A>T (p.Lys32872Ter)
c.95956A>T (p.Lys31986Ter)
c.95875A>T (p.Lys31959Ter)
c.77638A>T (p.Lys25880Ter)
c.67492A>T (p.Lys22498Ter)
2g.178531872T>CCA349411022TTN,TTN-AS1c.97039A>G (p.Lys32347Glu)
c.78124A>G (p.Lys26042Glu)
c.77923A>G (p.Lys25975Glu)
c.77548A>G (p.Lys25850Glu)
c.104743A>G (p.Lys34915Glu)
c.99820A>G (p.Lys33274Glu)
n.446+8236T>C
n.220-3860T>C
c.103840A>G (p.Lys34614Glu)
c.77734A>G (p.Lys25912Glu)
c.77593A>G (p.Lys25865Glu)
c.103636A>G (p.Lys34546Glu)
c.99034A>G (p.Lys33012Glu)
c.99031A>G (p.Lys33011Glu)
c.96073A>G (p.Lys32025Glu)
c.77689A>G (p.Lys25897Glu)
c.99184A>G (p.Lys33062Glu)
c.99181A>G (p.Lys33061Glu)
c.98614A>G (p.Lys32872Glu)
c.95956A>G (p.Lys31986Glu)
c.95875A>G (p.Lys31959Glu)
c.77638A>G (p.Lys25880Glu)
c.67492A>G (p.Lys22498Glu)
2g.178531872T>GCA349411021TTN,TTN-AS1c.97039A>C (p.Lys32347Gln)
c.78124A>C (p.Lys26042Gln)
c.77923A>C (p.Lys25975Gln)
c.77548A>C (p.Lys25850Gln)
c.104743A>C (p.Lys34915Gln)
c.99820A>C (p.Lys33274Gln)
n.446+8236T>G
n.220-3860T>G
c.103840A>C (p.Lys34614Gln)
c.77734A>C (p.Lys25912Gln)
c.77593A>C (p.Lys25865Gln)
c.103636A>C (p.Lys34546Gln)
c.99034A>C (p.Lys33012Gln)
c.99031A>C (p.Lys33011Gln)
c.96073A>C (p.Lys32025Gln)
c.77689A>C (p.Lys25897Gln)
c.99184A>C (p.Lys33062Gln)
c.99181A>C (p.Lys33061Gln)
c.98614A>C (p.Lys32872Gln)
c.95956A>C (p.Lys31986Gln)
c.95875A>C (p.Lys31959Gln)
c.77638A>C (p.Lys25880Gln)
c.67492A>C (p.Lys22498Gln)
2g.178531873C>ACA349411024TTN,TTN-AS1c.97038G>T (p.Met32346Ile)
c.78123G>T (p.Met26041Ile)
c.77922G>T (p.Met25974Ile)
c.77547G>T (p.Met25849Ile)
c.104742G>T (p.Met34914Ile)
c.99819G>T (p.Met33273Ile)
n.446+8237C>A
n.220-3859C>A
c.103839G>T (p.Met34613Ile)
c.77733G>T (p.Met25911Ile)
c.77592G>T (p.Met25864Ile)
c.103635G>T (p.Met34545Ile)
c.99033G>T (p.Met33011Ile)
c.99030G>T (p.Met33010Ile)
c.96072G>T (p.Met32024Ile)
c.77688G>T (p.Met25896Ile)
c.99183G>T (p.Met33061Ile)
c.99180G>T (p.Met33060Ile)
c.98613G>T (p.Met32871Ile)
c.95955G>T (p.Met31985Ile)
c.95874G>T (p.Met31958Ile)
c.77637G>T (p.Met25879Ile)
c.67491G>T (p.Met22497Ile)
2g.178531873C=CA1310517957TTN,TTN-AS1c.97038G= (p.Met32346=)
c.78123G= (p.Met26041=)
c.77922G= (p.Met25974=)
c.77547G= (p.Met25849=)
c.104742G= (p.Met34914=)
c.99819G= (p.Met33273=)
n.446+8237C=
n.220-3859C=
c.103839G= (p.Met34613=)
c.77733G= (p.Met25911=)
c.77592G= (p.Met25864=)
c.103635G= (p.Met34545=)
c.99033G= (p.Met33011=)
c.99030G= (p.Met33010=)
c.96072G= (p.Met32024=)
c.77688G= (p.Met25896=)
c.99183G= (p.Met33061=)
c.99180G= (p.Met33060=)
c.98613G= (p.Met32871=)
c.95955G= (p.Met31985=)
c.95874G= (p.Met31958=)
c.77637G= (p.Met25879=)
c.67491G= (p.Met22497=)
2g.178531873C>GCA349411025TTN,TTN-AS1c.97038G>C (p.Met32346Ile)
c.78123G>C (p.Met26041Ile)
c.77922G>C (p.Met25974Ile)
c.77547G>C (p.Met25849Ile)
c.104742G>C (p.Met34914Ile)
c.99819G>C (p.Met33273Ile)
n.446+8237C>G
n.220-3859C>G
c.103839G>C (p.Met34613Ile)
c.77733G>C (p.Met25911Ile)
c.77592G>C (p.Met25864Ile)
c.103635G>C (p.Met34545Ile)
c.99033G>C (p.Met33011Ile)
c.99030G>C (p.Met33010Ile)
c.96072G>C (p.Met32024Ile)
c.77688G>C (p.Met25896Ile)
c.99183G>C (p.Met33061Ile)
c.99180G>C (p.Met33060Ile)
c.98613G>C (p.Met32871Ile)
c.95955G>C (p.Met31985Ile)
c.95874G>C (p.Met31958Ile)
c.77637G>C (p.Met25879Ile)
c.67491G>C (p.Met22497Ile)
2g.178531873C>TCA349411026TTN,TTN-AS1c.97038G>A (p.Met32346Ile)
c.78123G>A (p.Met26041Ile)
c.77922G>A (p.Met25974Ile)
c.77547G>A (p.Met25849Ile)
c.104742G>A (p.Met34914Ile)
c.99819G>A (p.Met33273Ile)
n.446+8237C>T
n.220-3859C>T
c.103839G>A (p.Met34613Ile)
c.77733G>A (p.Met25911Ile)
c.77592G>A (p.Met25864Ile)
c.103635G>A (p.Met34545Ile)
c.99033G>A (p.Met33011Ile)
c.99030G>A (p.Met33010Ile)
c.96072G>A (p.Met32024Ile)
c.77688G>A (p.Met25896Ile)
c.99183G>A (p.Met33061Ile)
c.99180G>A (p.Met33060Ile)
c.98613G>A (p.Met32871Ile)
c.95955G>A (p.Met31985Ile)
c.95874G>A (p.Met31958Ile)
c.77637G>A (p.Met25879Ile)
c.67491G>A (p.Met22497Ile)
 dbSNP
2g.178531874A=CA1310517958TTN,TTN-AS1c.97037T= (p.Met32346=)
c.78122T= (p.Met26041=)
c.77921T= (p.Met25974=)
c.77546T= (p.Met25849=)
c.104741T= (p.Met34914=)
c.99818T= (p.Met33273=)
n.446+8238A=
n.220-3858A=
c.103838T= (p.Met34613=)
c.77732T= (p.Met25911=)
c.77591T= (p.Met25864=)
c.103634T= (p.Met34545=)
c.99032T= (p.Met33011=)
c.99029T= (p.Met33010=)
c.96071T= (p.Met32024=)
c.77687T= (p.Met25896=)
c.99182T= (p.Met33061=)
c.99179T= (p.Met33060=)
c.98612T= (p.Met32871=)
c.95954T= (p.Met31985=)
c.95873T= (p.Met31958=)
c.77636T= (p.Met25879=)
c.67490T= (p.Met22497=)
2g.178531874A>CCA349411027TTN,TTN-AS1c.97037T>G (p.Met32346Arg)
c.78122T>G (p.Met26041Arg)
c.77921T>G (p.Met25974Arg)
c.77546T>G (p.Met25849Arg)
c.104741T>G (p.Met34914Arg)
c.99818T>G (p.Met33273Arg)
n.446+8238A>C
n.220-3858A>C
c.103838T>G (p.Met34613Arg)
c.77732T>G (p.Met25911Arg)
c.77591T>G (p.Met25864Arg)
c.103634T>G (p.Met34545Arg)
c.99032T>G (p.Met33011Arg)
c.99029T>G (p.Met33010Arg)
c.96071T>G (p.Met32024Arg)
c.77687T>G (p.Met25896Arg)
c.99182T>G (p.Met33061Arg)
c.99179T>G (p.Met33060Arg)
c.98612T>G (p.Met32871Arg)
c.95954T>G (p.Met31985Arg)
c.95873T>G (p.Met31958Arg)
c.77636T>G (p.Met25879Arg)
c.67490T>G (p.Met22497Arg)
2g.178531874A>GCA349411028TTN,TTN-AS1c.97037T>C (p.Met32346Thr)
c.78122T>C (p.Met26041Thr)
c.77921T>C (p.Met25974Thr)
c.77546T>C (p.Met25849Thr)
c.104741T>C (p.Met34914Thr)
c.99818T>C (p.Met33273Thr)
n.446+8238A>G
n.220-3858A>G
c.103838T>C (p.Met34613Thr)
c.77732T>C (p.Met25911Thr)
c.77591T>C (p.Met25864Thr)
c.103634T>C (p.Met34545Thr)
c.99032T>C (p.Met33011Thr)
c.99029T>C (p.Met33010Thr)
c.96071T>C (p.Met32024Thr)
c.77687T>C (p.Met25896Thr)
c.99182T>C (p.Met33061Thr)
c.99179T>C (p.Met33060Thr)
c.98612T>C (p.Met32871Thr)
c.95954T>C (p.Met31985Thr)
c.95873T>C (p.Met31958Thr)
c.77636T>C (p.Met25879Thr)
c.67490T>C (p.Met22497Thr)
2g.178531874A>TCA10604091TTN,TTN-AS1c.97037T>A (p.Met32346Lys)
c.78122T>A (p.Met26041Lys)
c.77921T>A (p.Met25974Lys)
c.77546T>A (p.Met25849Lys)
c.104741T>A (p.Met34914Lys)
c.99818T>A (p.Met33273Lys)
n.446+8238A>T
n.220-3858A>T
c.103838T>A (p.Met34613Lys)
c.77732T>A (p.Met25911Lys)
c.77591T>A (p.Met25864Lys)
c.103634T>A (p.Met34545Lys)
c.99032T>A (p.Met33011Lys)
c.99029T>A (p.Met33010Lys)
c.96071T>A (p.Met32024Lys)
c.77687T>A (p.Met25896Lys)
c.99182T>A (p.Met33061Lys)
c.99179T>A (p.Met33060Lys)
c.98612T>A (p.Met32871Lys)
c.95954T>A (p.Met31985Lys)
c.95873T>A (p.Met31958Lys)
c.77636T>A (p.Met25879Lys)
c.67490T>A (p.Met22497Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531875T>ACA349411029TTN,TTN-AS1c.97036A>T (p.Met32346Leu)
c.78121A>T (p.Met26041Leu)
c.77920A>T (p.Met25974Leu)
c.77545A>T (p.Met25849Leu)
c.104740A>T (p.Met34914Leu)
c.99817A>T (p.Met33273Leu)
n.446+8239T>A
n.220-3857T>A
c.103837A>T (p.Met34613Leu)
c.77731A>T (p.Met25911Leu)
c.77590A>T (p.Met25864Leu)
c.103633A>T (p.Met34545Leu)
c.99031A>T (p.Met33011Leu)
c.99028A>T (p.Met33010Leu)
c.96070A>T (p.Met32024Leu)
c.77686A>T (p.Met25896Leu)
c.99181A>T (p.Met33061Leu)
c.99178A>T (p.Met33060Leu)
c.98611A>T (p.Met32871Leu)
c.95953A>T (p.Met31985Leu)
c.95872A>T (p.Met31958Leu)
c.77635A>T (p.Met25879Leu)
c.67489A>T (p.Met22497Leu)
2g.178531875T>CCA349411030TTN,TTN-AS1c.97036A>G (p.Met32346Val)
c.78121A>G (p.Met26041Val)
c.77920A>G (p.Met25974Val)
c.77545A>G (p.Met25849Val)
c.104740A>G (p.Met34914Val)
c.99817A>G (p.Met33273Val)
n.446+8239T>C
n.220-3857T>C
c.103837A>G (p.Met34613Val)
c.77731A>G (p.Met25911Val)
c.77590A>G (p.Met25864Val)
c.103633A>G (p.Met34545Val)
c.99031A>G (p.Met33011Val)
c.99028A>G (p.Met33010Val)
c.96070A>G (p.Met32024Val)
c.77686A>G (p.Met25896Val)
c.99181A>G (p.Met33061Val)
c.99178A>G (p.Met33060Val)
c.98611A>G (p.Met32871Val)
c.95953A>G (p.Met31985Val)
c.95872A>G (p.Met31958Val)
c.77635A>G (p.Met25879Val)
c.67489A>G (p.Met22497Val)
 gnomAD v4
2g.178531875T>GCA349411031TTN,TTN-AS1c.97036A>C (p.Met32346Leu)
c.78121A>C (p.Met26041Leu)
c.77920A>C (p.Met25974Leu)
c.77545A>C (p.Met25849Leu)
c.104740A>C (p.Met34914Leu)
c.99817A>C (p.Met33273Leu)
n.446+8239T>G
n.220-3857T>G
c.103837A>C (p.Met34613Leu)
c.77731A>C (p.Met25911Leu)
c.77590A>C (p.Met25864Leu)
c.103633A>C (p.Met34545Leu)
c.99031A>C (p.Met33011Leu)
c.99028A>C (p.Met33010Leu)
c.96070A>C (p.Met32024Leu)
c.77686A>C (p.Met25896Leu)
c.99181A>C (p.Met33061Leu)
c.99178A>C (p.Met33060Leu)
c.98611A>C (p.Met32871Leu)
c.95953A>C (p.Met31985Leu)
c.95872A>C (p.Met31958Leu)
c.77635A>C (p.Met25879Leu)
c.67489A>C (p.Met22497Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178531875T=CA1310517959TTN,TTN-AS1c.97036A= (p.Met32346=)
c.78121A= (p.Met26041=)
c.77920A= (p.Met25974=)
c.77545A= (p.Met25849=)
c.104740A= (p.Met34914=)
c.99817A= (p.Met33273=)
n.446+8239T=
n.220-3857T=
c.103837A= (p.Met34613=)
c.77731A= (p.Met25911=)
c.77590A= (p.Met25864=)
c.103633A= (p.Met34545=)
c.99031A= (p.Met33011=)
c.99028A= (p.Met33010=)
c.96070A= (p.Met32024=)
c.77686A= (p.Met25896=)
c.99181A= (p.Met33061=)
c.99178A= (p.Met33060=)
c.98611A= (p.Met32871=)
c.95953A= (p.Met31985=)
c.95872A= (p.Met31958=)
c.77635A= (p.Met25879=)
c.67489A= (p.Met22497=)
2g.178531876G>ACA430235532TTN,TTN-AS1c.97035C>T (p.Ser32345=)
c.78120C>T (p.Ser26040=)
c.77919C>T (p.Ser25973=)
c.77544C>T (p.Ser25848=)
c.104739C>T (p.Ser34913=)
c.99816C>T (p.Ser33272=)
n.446+8240G>A
n.220-3856G>A
c.103836C>T (p.Ser34612=)
c.77730C>T (p.Ser25910=)
c.77589C>T (p.Ser25863=)
c.103632C>T (p.Ser34544=)
c.99030C>T (p.Ser33010=)
c.99027C>T (p.Ser33009=)
c.96069C>T (p.Ser32023=)
c.77685C>T (p.Ser25895=)
c.99180C>T (p.Ser33060=)
c.99177C>T (p.Ser33059=)
c.98610C>T (p.Ser32870=)
c.95952C>T (p.Ser31984=)
c.95871C>T (p.Ser31957=)
c.77634C>T (p.Ser25878=)
c.67488C>T (p.Ser22496=)
2g.178531876G>CCA430235534TTN,TTN-AS1c.97035C>G (p.Ser32345=)
c.78120C>G (p.Ser26040=)
c.77919C>G (p.Ser25973=)
c.77544C>G (p.Ser25848=)
c.104739C>G (p.Ser34913=)
c.99816C>G (p.Ser33272=)
n.446+8240G>C
n.220-3856G>C
c.103836C>G (p.Ser34612=)
c.77730C>G (p.Ser25910=)
c.77589C>G (p.Ser25863=)
c.103632C>G (p.Ser34544=)
c.99030C>G (p.Ser33010=)
c.99027C>G (p.Ser33009=)
c.96069C>G (p.Ser32023=)
c.77685C>G (p.Ser25895=)
c.99180C>G (p.Ser33060=)
c.99177C>G (p.Ser33059=)
c.98610C>G (p.Ser32870=)
c.95952C>G (p.Ser31984=)
c.95871C>G (p.Ser31957=)
c.77634C>G (p.Ser25878=)
c.67488C>G (p.Ser22496=)
2g.178531876G>TCA430235533TTN,TTN-AS1c.97035C>A (p.Ser32345=)
c.78120C>A (p.Ser26040=)
c.77919C>A (p.Ser25973=)
c.77544C>A (p.Ser25848=)
c.104739C>A (p.Ser34913=)
c.99816C>A (p.Ser33272=)
n.446+8240G>T
n.220-3856G>T
c.103836C>A (p.Ser34612=)
c.77730C>A (p.Ser25910=)
c.77589C>A (p.Ser25863=)
c.103632C>A (p.Ser34544=)
c.99030C>A (p.Ser33010=)
c.99027C>A (p.Ser33009=)
c.96069C>A (p.Ser32023=)
c.77685C>A (p.Ser25895=)
c.99180C>A (p.Ser33060=)
c.99177C>A (p.Ser33059=)
c.98610C>A (p.Ser32870=)
c.95952C>A (p.Ser31984=)
c.95871C>A (p.Ser31957=)
c.77634C>A (p.Ser25878=)
c.67488C>A (p.Ser22496=)
2g.178531877G>ACA349411032TTN,TTN-AS1c.97034C>T (p.Ser32345Phe)
c.78119C>T (p.Ser26040Phe)
c.77918C>T (p.Ser25973Phe)
c.77543C>T (p.Ser25848Phe)
c.104738C>T (p.Ser34913Phe)
c.99815C>T (p.Ser33272Phe)
n.446+8241G>A
n.220-3855G>A
c.103835C>T (p.Ser34612Phe)
c.77729C>T (p.Ser25910Phe)
c.77588C>T (p.Ser25863Phe)
c.103631C>T (p.Ser34544Phe)
c.99029C>T (p.Ser33010Phe)
c.99026C>T (p.Ser33009Phe)
c.96068C>T (p.Ser32023Phe)
c.77684C>T (p.Ser25895Phe)
c.99179C>T (p.Ser33060Phe)
c.99176C>T (p.Ser33059Phe)
c.98609C>T (p.Ser32870Phe)
c.95951C>T (p.Ser31984Phe)
c.95870C>T (p.Ser31957Phe)
c.77633C>T (p.Ser25878Phe)
c.67487C>T (p.Ser22496Phe)
 ClinVar dbSNP
2g.178531877G>CCA349411033TTN,TTN-AS1c.97034C>G (p.Ser32345Cys)
c.78119C>G (p.Ser26040Cys)
c.77918C>G (p.Ser25973Cys)
c.77543C>G (p.Ser25848Cys)
c.104738C>G (p.Ser34913Cys)
c.99815C>G (p.Ser33272Cys)
n.446+8241G>C
n.220-3855G>C
c.103835C>G (p.Ser34612Cys)
c.77729C>G (p.Ser25910Cys)
c.77588C>G (p.Ser25863Cys)
c.103631C>G (p.Ser34544Cys)
c.99029C>G (p.Ser33010Cys)
c.99026C>G (p.Ser33009Cys)
c.96068C>G (p.Ser32023Cys)
c.77684C>G (p.Ser25895Cys)
c.99179C>G (p.Ser33060Cys)
c.99176C>G (p.Ser33059Cys)
c.98609C>G (p.Ser32870Cys)
c.95951C>G (p.Ser31984Cys)
c.95870C>G (p.Ser31957Cys)
c.77633C>G (p.Ser25878Cys)
c.67487C>G (p.Ser22496Cys)
2g.178531877G>TCA349411034TTN,TTN-AS1c.97034C>A (p.Ser32345Tyr)
c.78119C>A (p.Ser26040Tyr)
c.77918C>A (p.Ser25973Tyr)
c.77543C>A (p.Ser25848Tyr)
c.104738C>A (p.Ser34913Tyr)
c.99815C>A (p.Ser33272Tyr)
n.446+8241G>T
n.220-3855G>T
c.103835C>A (p.Ser34612Tyr)
c.77729C>A (p.Ser25910Tyr)
c.77588C>A (p.Ser25863Tyr)
c.103631C>A (p.Ser34544Tyr)
c.99029C>A (p.Ser33010Tyr)
c.99026C>A (p.Ser33009Tyr)
c.96068C>A (p.Ser32023Tyr)
c.77684C>A (p.Ser25895Tyr)
c.99179C>A (p.Ser33060Tyr)
c.99176C>A (p.Ser33059Tyr)
c.98609C>A (p.Ser32870Tyr)
c.95951C>A (p.Ser31984Tyr)
c.95870C>A (p.Ser31957Tyr)
c.77633C>A (p.Ser25878Tyr)
c.67487C>A (p.Ser22496Tyr)
2g.178531878A=CA1310517960TTN,TTN-AS1c.97033T= (p.Ser32345=)
c.78118T= (p.Ser26040=)
c.77917T= (p.Ser25973=)
c.77542T= (p.Ser25848=)
c.104737T= (p.Ser34913=)
c.99814T= (p.Ser33272=)
n.446+8242A=
n.220-3854A=
c.103834T= (p.Ser34612=)
c.77728T= (p.Ser25910=)
c.77587T= (p.Ser25863=)
c.103630T= (p.Ser34544=)
c.99028T= (p.Ser33010=)
c.99025T= (p.Ser33009=)
c.96067T= (p.Ser32023=)
c.77683T= (p.Ser25895=)
c.99178T= (p.Ser33060=)
c.99175T= (p.Ser33059=)
c.98608T= (p.Ser32870=)
c.95950T= (p.Ser31984=)
c.95869T= (p.Ser31957=)
c.77632T= (p.Ser25878=)
c.67486T= (p.Ser22496=)
2g.178531878A>CCA349411037TTN,TTN-AS1c.97033T>G (p.Ser32345Ala)
c.78118T>G (p.Ser26040Ala)
c.77917T>G (p.Ser25973Ala)
c.77542T>G (p.Ser25848Ala)
c.104737T>G (p.Ser34913Ala)
c.99814T>G (p.Ser33272Ala)
n.446+8242A>C
n.220-3854A>C
c.103834T>G (p.Ser34612Ala)
c.77728T>G (p.Ser25910Ala)
c.77587T>G (p.Ser25863Ala)
c.103630T>G (p.Ser34544Ala)
c.99028T>G (p.Ser33010Ala)
c.99025T>G (p.Ser33009Ala)
c.96067T>G (p.Ser32023Ala)
c.77683T>G (p.Ser25895Ala)
c.99178T>G (p.Ser33060Ala)
c.99175T>G (p.Ser33059Ala)
c.98608T>G (p.Ser32870Ala)
c.95950T>G (p.Ser31984Ala)
c.95869T>G (p.Ser31957Ala)
c.77632T>G (p.Ser25878Ala)
c.67486T>G (p.Ser22496Ala)
2g.178531878A>GCA349411036TTN,TTN-AS1c.97033T>C (p.Ser32345Pro)
c.78118T>C (p.Ser26040Pro)
c.77917T>C (p.Ser25973Pro)
c.77542T>C (p.Ser25848Pro)
c.104737T>C (p.Ser34913Pro)
c.99814T>C (p.Ser33272Pro)
n.446+8242A>G
n.220-3854A>G
c.103834T>C (p.Ser34612Pro)
c.77728T>C (p.Ser25910Pro)
c.77587T>C (p.Ser25863Pro)
c.103630T>C (p.Ser34544Pro)
c.99028T>C (p.Ser33010Pro)
c.99025T>C (p.Ser33009Pro)
c.96067T>C (p.Ser32023Pro)
c.77683T>C (p.Ser25895Pro)
c.99178T>C (p.Ser33060Pro)
c.99175T>C (p.Ser33059Pro)
c.98608T>C (p.Ser32870Pro)
c.95950T>C (p.Ser31984Pro)
c.95869T>C (p.Ser31957Pro)
c.77632T>C (p.Ser25878Pro)
c.67486T>C (p.Ser22496Pro)
2g.178531878A>TCA349411035TTN,TTN-AS1c.97033T>A (p.Ser32345Thr)
c.78118T>A (p.Ser26040Thr)
c.77917T>A (p.Ser25973Thr)
c.77542T>A (p.Ser25848Thr)
c.104737T>A (p.Ser34913Thr)
c.99814T>A (p.Ser33272Thr)
n.446+8242A>T
n.220-3854A>T
c.103834T>A (p.Ser34612Thr)
c.77728T>A (p.Ser25910Thr)
c.77587T>A (p.Ser25863Thr)
c.103630T>A (p.Ser34544Thr)
c.99028T>A (p.Ser33010Thr)
c.99025T>A (p.Ser33009Thr)
c.96067T>A (p.Ser32023Thr)
c.77683T>A (p.Ser25895Thr)
c.99178T>A (p.Ser33060Thr)
c.99175T>A (p.Ser33059Thr)
c.98608T>A (p.Ser32870Thr)
c.95950T>A (p.Ser31984Thr)
c.95869T>A (p.Ser31957Thr)
c.77632T>A (p.Ser25878Thr)
c.67486T>A (p.Ser22496Thr)
 dbSNP
2g.178531879C>ACA349411038TTN,TTN-AS1c.97032G>T (p.Glu32344Asp)
c.78117G>T (p.Glu26039Asp)
c.77916G>T (p.Glu25972Asp)
c.77541G>T (p.Glu25847Asp)
c.104736G>T (p.Glu34912Asp)
c.99813G>T (p.Glu33271Asp)
n.446+8243C>A
n.220-3853C>A
c.103833G>T (p.Glu34611Asp)
c.77727G>T (p.Glu25909Asp)
c.77586G>T (p.Glu25862Asp)
c.103629G>T (p.Glu34543Asp)
c.99027G>T (p.Glu33009Asp)
c.99024G>T (p.Glu33008Asp)
c.96066G>T (p.Glu32022Asp)
c.77682G>T (p.Glu25894Asp)
c.99177G>T (p.Glu33059Asp)
c.99174G>T (p.Glu33058Asp)
c.98607G>T (p.Glu32869Asp)
c.95949G>T (p.Glu31983Asp)
c.95868G>T (p.Glu31956Asp)
c.77631G>T (p.Glu25877Asp)
c.67485G>T (p.Glu22495Asp)
2g.178531879C>GCA349411039TTN,TTN-AS1c.97032G>C (p.Glu32344Asp)
c.78117G>C (p.Glu26039Asp)
c.77916G>C (p.Glu25972Asp)
c.77541G>C (p.Glu25847Asp)
c.104736G>C (p.Glu34912Asp)
c.99813G>C (p.Glu33271Asp)
n.446+8243C>G
n.220-3853C>G
c.103833G>C (p.Glu34611Asp)
c.77727G>C (p.Glu25909Asp)
c.77586G>C (p.Glu25862Asp)
c.103629G>C (p.Glu34543Asp)
c.99027G>C (p.Glu33009Asp)
c.99024G>C (p.Glu33008Asp)
c.96066G>C (p.Glu32022Asp)
c.77682G>C (p.Glu25894Asp)
c.99177G>C (p.Glu33059Asp)
c.99174G>C (p.Glu33058Asp)
c.98607G>C (p.Glu32869Asp)
c.95949G>C (p.Glu31983Asp)
c.95868G>C (p.Glu31956Asp)
c.77631G>C (p.Glu25877Asp)
c.67485G>C (p.Glu22495Asp)
2g.178531879C>TCA430235536TTN,TTN-AS1c.97032G>A (p.Glu32344=)
c.78117G>A (p.Glu26039=)
c.77916G>A (p.Glu25972=)
c.77541G>A (p.Glu25847=)
c.104736G>A (p.Glu34912=)
c.99813G>A (p.Glu33271=)
n.446+8243C>T
n.220-3853C>T
c.103833G>A (p.Glu34611=)
c.77727G>A (p.Glu25909=)
c.77586G>A (p.Glu25862=)
c.103629G>A (p.Glu34543=)
c.99027G>A (p.Glu33009=)
c.99024G>A (p.Glu33008=)
c.96066G>A (p.Glu32022=)
c.77682G>A (p.Glu25894=)
c.99177G>A (p.Glu33059=)
c.99174G>A (p.Glu33058=)
c.98607G>A (p.Glu32869=)
c.95949G>A (p.Glu31983=)
c.95868G>A (p.Glu31956=)
c.77631G>A (p.Glu25877=)
c.67485G>A (p.Glu22495=)
2g.178531880T>ACA349411040TTN,TTN-AS1c.97031A>T (p.Glu32344Val)
c.78116A>T (p.Glu26039Val)
c.77915A>T (p.Glu25972Val)
c.77540A>T (p.Glu25847Val)
c.104735A>T (p.Glu34912Val)
c.99812A>T (p.Glu33271Val)
n.446+8244T>A
n.220-3852T>A
c.103832A>T (p.Glu34611Val)
c.77726A>T (p.Glu25909Val)
c.77585A>T (p.Glu25862Val)
c.103628A>T (p.Glu34543Val)
c.99026A>T (p.Glu33009Val)
c.99023A>T (p.Glu33008Val)
c.96065A>T (p.Glu32022Val)
c.77681A>T (p.Glu25894Val)
c.99176A>T (p.Glu33059Val)
c.99173A>T (p.Glu33058Val)
c.98606A>T (p.Glu32869Val)
c.95948A>T (p.Glu31983Val)
c.95867A>T (p.Glu31956Val)
c.77630A>T (p.Glu25877Val)
c.67484A>T (p.Glu22495Val)
2g.178531880T>CCA349411041TTN,TTN-AS1c.97031A>G (p.Glu32344Gly)
c.78116A>G (p.Glu26039Gly)
c.77915A>G (p.Glu25972Gly)
c.77540A>G (p.Glu25847Gly)
c.104735A>G (p.Glu34912Gly)
c.99812A>G (p.Glu33271Gly)
n.446+8244T>C
n.220-3852T>C
c.103832A>G (p.Glu34611Gly)
c.77726A>G (p.Glu25909Gly)
c.77585A>G (p.Glu25862Gly)
c.103628A>G (p.Glu34543Gly)
c.99026A>G (p.Glu33009Gly)
c.99023A>G (p.Glu33008Gly)
c.96065A>G (p.Glu32022Gly)
c.77681A>G (p.Glu25894Gly)
c.99176A>G (p.Glu33059Gly)
c.99173A>G (p.Glu33058Gly)
c.98606A>G (p.Glu32869Gly)
c.95948A>G (p.Glu31983Gly)
c.95867A>G (p.Glu31956Gly)
c.77630A>G (p.Glu25877Gly)
c.67484A>G (p.Glu22495Gly)
 dbSNP gnomAD v4
2g.178531880T>GCA349411042TTN,TTN-AS1c.97031A>C (p.Glu32344Ala)
c.78116A>C (p.Glu26039Ala)
c.77915A>C (p.Glu25972Ala)
c.77540A>C (p.Glu25847Ala)
c.104735A>C (p.Glu34912Ala)
c.99812A>C (p.Glu33271Ala)
n.446+8244T>G
n.220-3852T>G
c.103832A>C (p.Glu34611Ala)
c.77726A>C (p.Glu25909Ala)
c.77585A>C (p.Glu25862Ala)
c.103628A>C (p.Glu34543Ala)
c.99026A>C (p.Glu33009Ala)
c.99023A>C (p.Glu33008Ala)
c.96065A>C (p.Glu32022Ala)
c.77681A>C (p.Glu25894Ala)
c.99176A>C (p.Glu33059Ala)
c.99173A>C (p.Glu33058Ala)
c.98606A>C (p.Glu32869Ala)
c.95948A>C (p.Glu31983Ala)
c.95867A>C (p.Glu31956Ala)
c.77630A>C (p.Glu25877Ala)
c.67484A>C (p.Glu22495Ala)
2g.178531880T=CA1310517961TTN,TTN-AS1c.97031A= (p.Glu32344=)
c.78116A= (p.Glu26039=)
c.77915A= (p.Glu25972=)
c.77540A= (p.Glu25847=)
c.104735A= (p.Glu34912=)
c.99812A= (p.Glu33271=)
n.446+8244T=
n.220-3852T=
c.103832A= (p.Glu34611=)
c.77726A= (p.Glu25909=)
c.77585A= (p.Glu25862=)
c.103628A= (p.Glu34543=)
c.99026A= (p.Glu33009=)
c.99023A= (p.Glu33008=)
c.96065A= (p.Glu32022=)
c.77681A= (p.Glu25894=)
c.99176A= (p.Glu33059=)
c.99173A= (p.Glu33058=)
c.98606A= (p.Glu32869=)
c.95948A= (p.Glu31983=)
c.95867A= (p.Glu31956=)
c.77630A= (p.Glu25877=)
c.67484A= (p.Glu22495=)
2g.178531881_178531883dupCA2662123149TTN,TTN-AS1c.97029_97031dup (p.Tyr32343_Glu32344insAsp)
c.78114_78116dup (p.Tyr26038_Glu26039insAsp)
c.77913_77915dup (p.Tyr25971_Glu25972insAsp)
c.77538_77540dup (p.Tyr25846_Glu25847insAsp)
c.104733_104735dup (p.Tyr34911_Glu34912insAsp)
c.99810_99812dup (p.Tyr33270_Glu33271insAsp)
n.446+8245_446+8247dup
n.220-3851_220-3849dup
c.103830_103832dup (p.Tyr34610_Glu34611insAsp)
c.77724_77726dup (p.Tyr25908_Glu25909insAsp)
c.77583_77585dup (p.Tyr25861_Glu25862insAsp)
c.103626_103628dup (p.Tyr34542_Glu34543insAsp)
c.99024_99026dup (p.Tyr33008_Glu33009insAsp)
c.99021_99023dup (p.Tyr33007_Glu33008insAsp)
c.96063_96065dup (p.Tyr32021_Glu32022insAsp)
c.77679_77681dup (p.Tyr25893_Glu25894insAsp)
c.99174_99176dup (p.Tyr33058_Glu33059insAsp)
c.99171_99173dup (p.Tyr33057_Glu33058insAsp)
c.98604_98606dup (p.Tyr32868_Glu32869insAsp)
c.95946_95948dup (p.Tyr31982_Glu31983insAsp)
c.95865_95867dup (p.Tyr31955_Glu31956insAsp)
c.77628_77630dup (p.Tyr25876_Glu25877insAsp)
c.67482_67484dup (p.Tyr22494_Glu22495insAsp)
 gnomAD v4
2g.178531881C>ACA349411043TTN,TTN-AS1c.97030G>T (p.Glu32344Ter)
c.78115G>T (p.Glu26039Ter)
c.77914G>T (p.Glu25972Ter)
c.77539G>T (p.Glu25847Ter)
c.104734G>T (p.Glu34912Ter)
c.99811G>T (p.Glu33271Ter)
n.446+8245C>A
n.220-3851C>A
c.103831G>T (p.Glu34611Ter)
c.77725G>T (p.Glu25909Ter)
c.77584G>T (p.Glu25862Ter)
c.103627G>T (p.Glu34543Ter)
c.99025G>T (p.Glu33009Ter)
c.99022G>T (p.Glu33008Ter)
c.96064G>T (p.Glu32022Ter)
c.77680G>T (p.Glu25894Ter)
c.99175G>T (p.Glu33059Ter)
c.99172G>T (p.Glu33058Ter)
c.98605G>T (p.Glu32869Ter)
c.95947G>T (p.Glu31983Ter)
c.95866G>T (p.Glu31956Ter)
c.77629G>T (p.Glu25877Ter)
c.67483G>T (p.Glu22495Ter)
2g.178531881C=CA1310517962TTN,TTN-AS1c.97030G= (p.Glu32344=)
c.78115G= (p.Glu26039=)
c.77914G= (p.Glu25972=)
c.77539G= (p.Glu25847=)
c.104734G= (p.Glu34912=)
c.99811G= (p.Glu33271=)
n.446+8245C=
n.220-3851C=
c.103831G= (p.Glu34611=)
c.77725G= (p.Glu25909=)
c.77584G= (p.Glu25862=)
c.103627G= (p.Glu34543=)
c.99025G= (p.Glu33009=)
c.99022G= (p.Glu33008=)
c.96064G= (p.Glu32022=)
c.77680G= (p.Glu25894=)
c.99175G= (p.Glu33059=)
c.99172G= (p.Glu33058=)
c.98605G= (p.Glu32869=)
c.95947G= (p.Glu31983=)
c.95866G= (p.Glu31956=)
c.77629G= (p.Glu25877=)
c.67483G= (p.Glu22495=)
2g.178531881C>GCA349411044TTN,TTN-AS1c.97030G>C (p.Glu32344Gln)
c.78115G>C (p.Glu26039Gln)
c.77914G>C (p.Glu25972Gln)
c.77539G>C (p.Glu25847Gln)
c.104734G>C (p.Glu34912Gln)
c.99811G>C (p.Glu33271Gln)
n.446+8245C>G
n.220-3851C>G
c.103831G>C (p.Glu34611Gln)
c.77725G>C (p.Glu25909Gln)
c.77584G>C (p.Glu25862Gln)
c.103627G>C (p.Glu34543Gln)
c.99025G>C (p.Glu33009Gln)
c.99022G>C (p.Glu33008Gln)
c.96064G>C (p.Glu32022Gln)
c.77680G>C (p.Glu25894Gln)
c.99175G>C (p.Glu33059Gln)
c.99172G>C (p.Glu33058Gln)
c.98605G>C (p.Glu32869Gln)
c.95947G>C (p.Glu31983Gln)
c.95866G>C (p.Glu31956Gln)
c.77629G>C (p.Glu25877Gln)
c.67483G>C (p.Glu22495Gln)
2g.178531881C>TCA1985368TTN,TTN-AS1c.97030G>A (p.Glu32344Lys)
c.78115G>A (p.Glu26039Lys)
c.77914G>A (p.Glu25972Lys)
c.77539G>A (p.Glu25847Lys)
c.104734G>A (p.Glu34912Lys)
c.99811G>A (p.Glu33271Lys)
n.446+8245C>T
n.220-3851C>T
c.103831G>A (p.Glu34611Lys)
c.77725G>A (p.Glu25909Lys)
c.77584G>A (p.Glu25862Lys)
c.103627G>A (p.Glu34543Lys)
c.99025G>A (p.Glu33009Lys)
c.99022G>A (p.Glu33008Lys)
c.96064G>A (p.Glu32022Lys)
c.77680G>A (p.Glu25894Lys)
c.99175G>A (p.Glu33059Lys)
c.99172G>A (p.Glu33058Lys)
c.98605G>A (p.Glu32869Lys)
c.95947G>A (p.Glu31983Lys)
c.95866G>A (p.Glu31956Lys)
c.77629G>A (p.Glu25877Lys)
c.67483G>A (p.Glu22495Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531882A>CCA349411045TTN,TTN-AS1c.97029T>G (p.Tyr32343Ter)
c.78114T>G (p.Tyr26038Ter)
c.77913T>G (p.Tyr25971Ter)
c.77538T>G (p.Tyr25846Ter)
c.104733T>G (p.Tyr34911Ter)
c.99810T>G (p.Tyr33270Ter)
n.446+8246A>C
n.220-3850A>C
c.103830T>G (p.Tyr34610Ter)
c.77724T>G (p.Tyr25908Ter)
c.77583T>G (p.Tyr25861Ter)
c.103626T>G (p.Tyr34542Ter)
c.99024T>G (p.Tyr33008Ter)
c.99021T>G (p.Tyr33007Ter)
c.96063T>G (p.Tyr32021Ter)
c.77679T>G (p.Tyr25893Ter)
c.99174T>G (p.Tyr33058Ter)
c.99171T>G (p.Tyr33057Ter)
c.98604T>G (p.Tyr32868Ter)
c.95946T>G (p.Tyr31982Ter)
c.95865T>G (p.Tyr31955Ter)
c.77628T>G (p.Tyr25876Ter)
c.67482T>G (p.Tyr22494Ter)
2g.178531882A>GCA430235540TTN,TTN-AS1c.97029T>C (p.Tyr32343=)
c.78114T>C (p.Tyr26038=)
c.77913T>C (p.Tyr25971=)
c.77538T>C (p.Tyr25846=)
c.104733T>C (p.Tyr34911=)
c.99810T>C (p.Tyr33270=)
n.446+8246A>G
n.220-3850A>G
c.103830T>C (p.Tyr34610=)
c.77724T>C (p.Tyr25908=)
c.77583T>C (p.Tyr25861=)
c.103626T>C (p.Tyr34542=)
c.99024T>C (p.Tyr33008=)
c.99021T>C (p.Tyr33007=)
c.96063T>C (p.Tyr32021=)
c.77679T>C (p.Tyr25893=)
c.99174T>C (p.Tyr33058=)
c.99171T>C (p.Tyr33057=)
c.98604T>C (p.Tyr32868=)
c.95946T>C (p.Tyr31982=)
c.95865T>C (p.Tyr31955=)
c.77628T>C (p.Tyr25876=)
c.67482T>C (p.Tyr22494=)
2g.178531882A>TCA349411046TTN,TTN-AS1c.97029T>A (p.Tyr32343Ter)
c.78114T>A (p.Tyr26038Ter)
c.77913T>A (p.Tyr25971Ter)
c.77538T>A (p.Tyr25846Ter)
c.104733T>A (p.Tyr34911Ter)
c.99810T>A (p.Tyr33270Ter)
n.446+8246A>T
n.220-3850A>T
c.103830T>A (p.Tyr34610Ter)
c.77724T>A (p.Tyr25908Ter)
c.77583T>A (p.Tyr25861Ter)
c.103626T>A (p.Tyr34542Ter)
c.99024T>A (p.Tyr33008Ter)
c.99021T>A (p.Tyr33007Ter)
c.96063T>A (p.Tyr32021Ter)
c.77679T>A (p.Tyr25893Ter)
c.99174T>A (p.Tyr33058Ter)
c.99171T>A (p.Tyr33057Ter)
c.98604T>A (p.Tyr32868Ter)
c.95946T>A (p.Tyr31982Ter)
c.95865T>A (p.Tyr31955Ter)
c.77628T>A (p.Tyr25876Ter)
c.67482T>A (p.Tyr22494Ter)
2g.178531883T>ACA349411047TTN,TTN-AS1c.97028A>T (p.Tyr32343Phe)
c.78113A>T (p.Tyr26038Phe)
c.77912A>T (p.Tyr25971Phe)
c.77537A>T (p.Tyr25846Phe)
c.104732A>T (p.Tyr34911Phe)
c.99809A>T (p.Tyr33270Phe)
n.446+8247T>A
n.220-3849T>A
c.103829A>T (p.Tyr34610Phe)
c.77723A>T (p.Tyr25908Phe)
c.77582A>T (p.Tyr25861Phe)
c.103625A>T (p.Tyr34542Phe)
c.99023A>T (p.Tyr33008Phe)
c.99020A>T (p.Tyr33007Phe)
c.96062A>T (p.Tyr32021Phe)
c.77678A>T (p.Tyr25893Phe)
c.99173A>T (p.Tyr33058Phe)
c.99170A>T (p.Tyr33057Phe)
c.98603A>T (p.Tyr32868Phe)
c.95945A>T (p.Tyr31982Phe)
c.95864A>T (p.Tyr31955Phe)
c.77627A>T (p.Tyr25876Phe)
c.67481A>T (p.Tyr22494Phe)
2g.178531883T>CCA1985369TTN,TTN-AS1c.97028A>G (p.Tyr32343Cys)
c.78113A>G (p.Tyr26038Cys)
c.77912A>G (p.Tyr25971Cys)
c.77537A>G (p.Tyr25846Cys)
c.104732A>G (p.Tyr34911Cys)
c.99809A>G (p.Tyr33270Cys)
n.446+8247T>C
n.220-3849T>C
c.103829A>G (p.Tyr34610Cys)
c.77723A>G (p.Tyr25908Cys)
c.77582A>G (p.Tyr25861Cys)
c.103625A>G (p.Tyr34542Cys)
c.99023A>G (p.Tyr33008Cys)
c.99020A>G (p.Tyr33007Cys)
c.96062A>G (p.Tyr32021Cys)
c.77678A>G (p.Tyr25893Cys)
c.99173A>G (p.Tyr33058Cys)
c.99170A>G (p.Tyr33057Cys)
c.98603A>G (p.Tyr32868Cys)
c.95945A>G (p.Tyr31982Cys)
c.95864A>G (p.Tyr31955Cys)
c.77627A>G (p.Tyr25876Cys)
c.67481A>G (p.Tyr22494Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531883T>GCA349411048TTN,TTN-AS1c.97028A>C (p.Tyr32343Ser)
c.78113A>C (p.Tyr26038Ser)
c.77912A>C (p.Tyr25971Ser)
c.77537A>C (p.Tyr25846Ser)
c.104732A>C (p.Tyr34911Ser)
c.99809A>C (p.Tyr33270Ser)
n.446+8247T>G
n.220-3849T>G
c.103829A>C (p.Tyr34610Ser)
c.77723A>C (p.Tyr25908Ser)
c.77582A>C (p.Tyr25861Ser)
c.103625A>C (p.Tyr34542Ser)
c.99023A>C (p.Tyr33008Ser)
c.99020A>C (p.Tyr33007Ser)
c.96062A>C (p.Tyr32021Ser)
c.77678A>C (p.Tyr25893Ser)
c.99173A>C (p.Tyr33058Ser)
c.99170A>C (p.Tyr33057Ser)
c.98603A>C (p.Tyr32868Ser)
c.95945A>C (p.Tyr31982Ser)
c.95864A>C (p.Tyr31955Ser)
c.77627A>C (p.Tyr25876Ser)
c.67481A>C (p.Tyr22494Ser)
2g.178531883T=CA1310517963TTN,TTN-AS1c.97028A= (p.Tyr32343=)
c.78113A= (p.Tyr26038=)
c.77912A= (p.Tyr25971=)
c.77537A= (p.Tyr25846=)
c.104732A= (p.Tyr34911=)
c.99809A= (p.Tyr33270=)
n.446+8247T=
n.220-3849T=
c.103829A= (p.Tyr34610=)
c.77723A= (p.Tyr25908=)
c.77582A= (p.Tyr25861=)
c.103625A= (p.Tyr34542=)
c.99023A= (p.Tyr33008=)
c.99020A= (p.Tyr33007=)
c.96062A= (p.Tyr32021=)
c.77678A= (p.Tyr25893=)
c.99173A= (p.Tyr33058=)
c.99170A= (p.Tyr33057=)
c.98603A= (p.Tyr32868=)
c.95945A= (p.Tyr31982=)
c.95864A= (p.Tyr31955=)
c.77627A= (p.Tyr25876=)
c.67481A= (p.Tyr22494=)
2g.178531884A=CA1310517964TTN,TTN-AS1c.97027T= (p.Tyr32343=)
c.78112T= (p.Tyr26038=)
c.77911T= (p.Tyr25971=)
c.77536T= (p.Tyr25846=)
c.104731T= (p.Tyr34911=)
c.99808T= (p.Tyr33270=)
n.446+8248A=
n.220-3848A=
c.103828T= (p.Tyr34610=)
c.77722T= (p.Tyr25908=)
c.77581T= (p.Tyr25861=)
c.103624T= (p.Tyr34542=)
c.99022T= (p.Tyr33008=)
c.99019T= (p.Tyr33007=)
c.96061T= (p.Tyr32021=)
c.77677T= (p.Tyr25893=)
c.99172T= (p.Tyr33058=)
c.99169T= (p.Tyr33057=)
c.98602T= (p.Tyr32868=)
c.95944T= (p.Tyr31982=)
c.95863T= (p.Tyr31955=)
c.77626T= (p.Tyr25876=)
c.67480T= (p.Tyr22494=)
2g.178531884A>CCA349411051TTN,TTN-AS1c.97027T>G (p.Tyr32343Asp)
c.78112T>G (p.Tyr26038Asp)
c.77911T>G (p.Tyr25971Asp)
c.77536T>G (p.Tyr25846Asp)
c.104731T>G (p.Tyr34911Asp)
c.99808T>G (p.Tyr33270Asp)
n.446+8248A>C
n.220-3848A>C
c.103828T>G (p.Tyr34610Asp)
c.77722T>G (p.Tyr25908Asp)
c.77581T>G (p.Tyr25861Asp)
c.103624T>G (p.Tyr34542Asp)
c.99022T>G (p.Tyr33008Asp)
c.99019T>G (p.Tyr33007Asp)
c.96061T>G (p.Tyr32021Asp)
c.77677T>G (p.Tyr25893Asp)
c.99172T>G (p.Tyr33058Asp)
c.99169T>G (p.Tyr33057Asp)
c.98602T>G (p.Tyr32868Asp)
c.95944T>G (p.Tyr31982Asp)
c.95863T>G (p.Tyr31955Asp)
c.77626T>G (p.Tyr25876Asp)
c.67480T>G (p.Tyr22494Asp)
2g.178531884A>GCA349411049TTN,TTN-AS1c.97027T>C (p.Tyr32343His)
c.78112T>C (p.Tyr26038His)
c.77911T>C (p.Tyr25971His)
c.77536T>C (p.Tyr25846His)
c.104731T>C (p.Tyr34911His)
c.99808T>C (p.Tyr33270His)
n.446+8248A>G
n.220-3848A>G
c.103828T>C (p.Tyr34610His)
c.77722T>C (p.Tyr25908His)
c.77581T>C (p.Tyr25861His)
c.103624T>C (p.Tyr34542His)
c.99022T>C (p.Tyr33008His)
c.99019T>C (p.Tyr33007His)
c.96061T>C (p.Tyr32021His)
c.77677T>C (p.Tyr25893His)
c.99172T>C (p.Tyr33058His)
c.99169T>C (p.Tyr33057His)
c.98602T>C (p.Tyr32868His)
c.95944T>C (p.Tyr31982His)
c.95863T>C (p.Tyr31955His)
c.77626T>C (p.Tyr25876His)
c.67480T>C (p.Tyr22494His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531884A>TCA349411050TTN,TTN-AS1c.97027T>A (p.Tyr32343Asn)
c.78112T>A (p.Tyr26038Asn)
c.77911T>A (p.Tyr25971Asn)
c.77536T>A (p.Tyr25846Asn)
c.104731T>A (p.Tyr34911Asn)
c.99808T>A (p.Tyr33270Asn)
n.446+8248A>T
n.220-3848A>T
c.103828T>A (p.Tyr34610Asn)
c.77722T>A (p.Tyr25908Asn)
c.77581T>A (p.Tyr25861Asn)
c.103624T>A (p.Tyr34542Asn)
c.99022T>A (p.Tyr33008Asn)
c.99019T>A (p.Tyr33007Asn)
c.96061T>A (p.Tyr32021Asn)
c.77677T>A (p.Tyr25893Asn)
c.99172T>A (p.Tyr33058Asn)
c.99169T>A (p.Tyr33057Asn)
c.98602T>A (p.Tyr32868Asn)
c.95944T>A (p.Tyr31982Asn)
c.95863T>A (p.Tyr31955Asn)
c.77626T>A (p.Tyr25876Asn)
c.67480T>A (p.Tyr22494Asn)
2g.178531885_178531892dupCA916719907TTN,TTN-AS1c.97020_97027dup (p.Tyr32343PhefsTer7)
c.78105_78112dup (p.Tyr26038PhefsTer7)
c.77904_77911dup (p.Tyr25971PhefsTer7)
c.77529_77536dup (p.Tyr25846PhefsTer7)
c.104724_104731dup (p.Tyr34911PhefsTer7)
c.99801_99808dup (p.Tyr33270PhefsTer7)
n.446+8249_446+8256dup
n.220-3847_220-3840dup
c.103821_103828dup (p.Tyr34610PhefsTer7)
c.77715_77722dup (p.Tyr25908PhefsTer7)
c.77574_77581dup (p.Tyr25861PhefsTer7)
c.103617_103624dup (p.Tyr34542PhefsTer7)
c.99015_99022dup (p.Tyr33008PhefsTer7)
c.99012_99019dup (p.Tyr33007PhefsTer7)
c.96054_96061dup (p.Tyr32021PhefsTer7)
c.77670_77677dup (p.Tyr25893PhefsTer7)
c.99165_99172dup (p.Tyr33058PhefsTer7)
c.99162_99169dup (p.Tyr33057PhefsTer7)
c.98595_98602dup (p.Tyr32868PhefsTer7)
c.95937_95944dup (p.Tyr31982PhefsTer7)
c.95856_95863dup (p.Tyr31955PhefsTer7)
c.77619_77626dup (p.Tyr25876PhefsTer7)
c.67473_67480dup (p.Tyr22494PhefsTer7)
 dbSNP
2g.178531885C>ACA349411052TTN,TTN-AS1c.97026G>T (p.Arg32342Ser)
c.78111G>T (p.Arg26037Ser)
c.77910G>T (p.Arg25970Ser)
c.77535G>T (p.Arg25845Ser)
c.104730G>T (p.Arg34910Ser)
c.99807G>T (p.Arg33269Ser)
n.446+8249C>A
n.220-3847C>A
c.103827G>T (p.Arg34609Ser)
c.77721G>T (p.Arg25907Ser)
c.77580G>T (p.Arg25860Ser)
c.103623G>T (p.Arg34541Ser)
c.99021G>T (p.Arg33007Ser)
c.99018G>T (p.Arg33006Ser)
c.96060G>T (p.Arg32020Ser)
c.77676G>T (p.Arg25892Ser)
c.99171G>T (p.Arg33057Ser)
c.99168G>T (p.Arg33056Ser)
c.98601G>T (p.Arg32867Ser)
c.95943G>T (p.Arg31981Ser)
c.95862G>T (p.Arg31954Ser)
c.77625G>T (p.Arg25875Ser)
c.67479G>T (p.Arg22493Ser)
2g.178531885C=CA1310517965TTN,TTN-AS1c.97026G= (p.Arg32342=)
c.78111G= (p.Arg26037=)
c.77910G= (p.Arg25970=)
c.77535G= (p.Arg25845=)
c.104730G= (p.Arg34910=)
c.99807G= (p.Arg33269=)
n.446+8249C=
n.220-3847C=
c.103827G= (p.Arg34609=)
c.77721G= (p.Arg25907=)
c.77580G= (p.Arg25860=)
c.103623G= (p.Arg34541=)
c.99021G= (p.Arg33007=)
c.99018G= (p.Arg33006=)
c.96060G= (p.Arg32020=)
c.77676G= (p.Arg25892=)
c.99171G= (p.Arg33057=)
c.99168G= (p.Arg33056=)
c.98601G= (p.Arg32867=)
c.95943G= (p.Arg31981=)
c.95862G= (p.Arg31954=)
c.77625G= (p.Arg25875=)
c.67479G= (p.Arg22493=)
2g.178531885C>GCA349411053TTN,TTN-AS1c.97026G>C (p.Arg32342Ser)
c.78111G>C (p.Arg26037Ser)
c.77910G>C (p.Arg25970Ser)
c.77535G>C (p.Arg25845Ser)
c.104730G>C (p.Arg34910Ser)
c.99807G>C (p.Arg33269Ser)
n.446+8249C>G
n.220-3847C>G
c.103827G>C (p.Arg34609Ser)
c.77721G>C (p.Arg25907Ser)
c.77580G>C (p.Arg25860Ser)
c.103623G>C (p.Arg34541Ser)
c.99021G>C (p.Arg33007Ser)
c.99018G>C (p.Arg33006Ser)
c.96060G>C (p.Arg32020Ser)
c.77676G>C (p.Arg25892Ser)
c.99171G>C (p.Arg33057Ser)
c.99168G>C (p.Arg33056Ser)
c.98601G>C (p.Arg32867Ser)
c.95943G>C (p.Arg31981Ser)
c.95862G>C (p.Arg31954Ser)
c.77625G>C (p.Arg25875Ser)
c.67479G>C (p.Arg22493Ser)
2g.178531885C>TCA430235541TTN,TTN-AS1c.97026G>A (p.Arg32342=)
c.78111G>A (p.Arg26037=)
c.77910G>A (p.Arg25970=)
c.77535G>A (p.Arg25845=)
c.104730G>A (p.Arg34910=)
c.99807G>A (p.Arg33269=)
n.446+8249C>T
n.220-3847C>T
c.103827G>A (p.Arg34609=)
c.77721G>A (p.Arg25907=)
c.77580G>A (p.Arg25860=)
c.103623G>A (p.Arg34541=)
c.99021G>A (p.Arg33007=)
c.99018G>A (p.Arg33006=)
c.96060G>A (p.Arg32020=)
c.77676G>A (p.Arg25892=)
c.99171G>A (p.Arg33057=)
c.99168G>A (p.Arg33056=)
c.98601G>A (p.Arg32867=)
c.95943G>A (p.Arg31981=)
c.95862G>A (p.Arg31954=)
c.77625G>A (p.Arg25875=)
c.67479G>A (p.Arg22493=)
 dbSNP gnomAD v2 gnomAD v4
2g.178531886C>ACA349411054TTN,TTN-AS1c.97025G>T (p.Arg32342Met)
c.78110G>T (p.Arg26037Met)
c.77909G>T (p.Arg25970Met)
c.77534G>T (p.Arg25845Met)
c.104729G>T (p.Arg34910Met)
c.99806G>T (p.Arg33269Met)
n.446+8250C>A
n.220-3846C>A
c.103826G>T (p.Arg34609Met)
c.77720G>T (p.Arg25907Met)
c.77579G>T (p.Arg25860Met)
c.103622G>T (p.Arg34541Met)
c.99020G>T (p.Arg33007Met)
c.99017G>T (p.Arg33006Met)
c.96059G>T (p.Arg32020Met)
c.77675G>T (p.Arg25892Met)
c.99170G>T (p.Arg33057Met)
c.99167G>T (p.Arg33056Met)
c.98600G>T (p.Arg32867Met)
c.95942G>T (p.Arg31981Met)
c.95861G>T (p.Arg31954Met)
c.77624G>T (p.Arg25875Met)
c.67478G>T (p.Arg22493Met)
2g.178531886C>GCA349411055TTN,TTN-AS1c.97025G>C (p.Arg32342Thr)
c.78110G>C (p.Arg26037Thr)
c.77909G>C (p.Arg25970Thr)
c.77534G>C (p.Arg25845Thr)
c.104729G>C (p.Arg34910Thr)
c.99806G>C (p.Arg33269Thr)
n.446+8250C>G
n.220-3846C>G
c.103826G>C (p.Arg34609Thr)
c.77720G>C (p.Arg25907Thr)
c.77579G>C (p.Arg25860Thr)
c.103622G>C (p.Arg34541Thr)
c.99020G>C (p.Arg33007Thr)
c.99017G>C (p.Arg33006Thr)
c.96059G>C (p.Arg32020Thr)
c.77675G>C (p.Arg25892Thr)
c.99170G>C (p.Arg33057Thr)
c.99167G>C (p.Arg33056Thr)
c.98600G>C (p.Arg32867Thr)
c.95942G>C (p.Arg31981Thr)
c.95861G>C (p.Arg31954Thr)
c.77624G>C (p.Arg25875Thr)
c.67478G>C (p.Arg22493Thr)
 gnomAD v4
2g.178531886C>TCA349411056TTN,TTN-AS1c.97025G>A (p.Arg32342Lys)
c.78110G>A (p.Arg26037Lys)
c.77909G>A (p.Arg25970Lys)
c.77534G>A (p.Arg25845Lys)
c.104729G>A (p.Arg34910Lys)
c.99806G>A (p.Arg33269Lys)
n.446+8250C>T
n.220-3846C>T
c.103826G>A (p.Arg34609Lys)
c.77720G>A (p.Arg25907Lys)
c.77579G>A (p.Arg25860Lys)
c.103622G>A (p.Arg34541Lys)
c.99020G>A (p.Arg33007Lys)
c.99017G>A (p.Arg33006Lys)
c.96059G>A (p.Arg32020Lys)
c.77675G>A (p.Arg25892Lys)
c.99170G>A (p.Arg33057Lys)
c.99167G>A (p.Arg33056Lys)
c.98600G>A (p.Arg32867Lys)
c.95942G>A (p.Arg31981Lys)
c.95861G>A (p.Arg31954Lys)
c.77624G>A (p.Arg25875Lys)
c.67478G>A (p.Arg22493Lys)
2g.178531887T>ACA349411057TTN,TTN-AS1c.97024A>T (p.Arg32342Trp)
c.78109A>T (p.Arg26037Trp)
c.77908A>T (p.Arg25970Trp)
c.77533A>T (p.Arg25845Trp)
c.104728A>T (p.Arg34910Trp)
c.99805A>T (p.Arg33269Trp)
n.446+8251T>A
n.220-3845T>A
c.103825A>T (p.Arg34609Trp)
c.77719A>T (p.Arg25907Trp)
c.77578A>T (p.Arg25860Trp)
c.103621A>T (p.Arg34541Trp)
c.99019A>T (p.Arg33007Trp)
c.99016A>T (p.Arg33006Trp)
c.96058A>T (p.Arg32020Trp)
c.77674A>T (p.Arg25892Trp)
c.99169A>T (p.Arg33057Trp)
c.99166A>T (p.Arg33056Trp)
c.98599A>T (p.Arg32867Trp)
c.95941A>T (p.Arg31981Trp)
c.95860A>T (p.Arg31954Trp)
c.77623A>T (p.Arg25875Trp)
c.67477A>T (p.Arg22493Trp)
 gnomAD v4
2g.178531887T>CCA349411058TTN,TTN-AS1c.97024A>G (p.Arg32342Gly)
c.78109A>G (p.Arg26037Gly)
c.77908A>G (p.Arg25970Gly)
c.77533A>G (p.Arg25845Gly)
c.104728A>G (p.Arg34910Gly)
c.99805A>G (p.Arg33269Gly)
n.446+8251T>C
n.220-3845T>C
c.103825A>G (p.Arg34609Gly)
c.77719A>G (p.Arg25907Gly)
c.77578A>G (p.Arg25860Gly)
c.103621A>G (p.Arg34541Gly)
c.99019A>G (p.Arg33007Gly)
c.99016A>G (p.Arg33006Gly)
c.96058A>G (p.Arg32020Gly)
c.77674A>G (p.Arg25892Gly)
c.99169A>G (p.Arg33057Gly)
c.99166A>G (p.Arg33056Gly)
c.98599A>G (p.Arg32867Gly)
c.95941A>G (p.Arg31981Gly)
c.95860A>G (p.Arg31954Gly)
c.77623A>G (p.Arg25875Gly)
c.67477A>G (p.Arg22493Gly)
2g.178531887T>GCA430235547TTN,TTN-AS1c.97024A>C (p.Arg32342=)
c.78109A>C (p.Arg26037=)
c.77908A>C (p.Arg25970=)
c.77533A>C (p.Arg25845=)
c.104728A>C (p.Arg34910=)
c.99805A>C (p.Arg33269=)
n.446+8251T>G
n.220-3845T>G
c.103825A>C (p.Arg34609=)
c.77719A>C (p.Arg25907=)
c.77578A>C (p.Arg25860=)
c.103621A>C (p.Arg34541=)
c.99019A>C (p.Arg33007=)
c.99016A>C (p.Arg33006=)
c.96058A>C (p.Arg32020=)
c.77674A>C (p.Arg25892=)
c.99169A>C (p.Arg33057=)
c.99166A>C (p.Arg33056=)
c.98599A>C (p.Arg32867=)
c.95941A>C (p.Arg31981=)
c.95860A>C (p.Arg31954=)
c.77623A>C (p.Arg25875=)
c.67477A>C (p.Arg22493=)
2g.178531887_178531888delinsTGCA1310517966TTN,TTN-AS1c.97023_97024delinsCA (p.Ser32341=)
c.78108_78109delinsCA (p.Ser26036=)
c.77907_77908delinsCA (p.Ser25969=)
c.77532_77533delinsCA (p.Ser25844=)
c.104727_104728delinsCA (p.Ser34909=)
c.99804_99805delinsCA (p.Ser33268=)
n.446+8251_446+8252delinsTG
n.220-3845_220-3844delinsTG
c.103824_103825delinsCA (p.Ser34608=)
c.77718_77719delinsCA (p.Ser25906=)
c.77577_77578delinsCA (p.Ser25859=)
c.103620_103621delinsCA (p.Ser34540=)
c.99018_99019delinsCA (p.Ser33006=)
c.99015_99016delinsCA (p.Ser33005=)
c.96057_96058delinsCA (p.Ser32019=)
c.77673_77674delinsCA (p.Ser25891=)
c.99168_99169delinsCA (p.Ser33056=)
c.99165_99166delinsCA (p.Ser33055=)
c.98598_98599delinsCA (p.Ser32866=)
c.95940_95941delinsCA (p.Ser31980=)
c.95859_95860delinsCA (p.Ser31953=)
c.77622_77623delinsCA (p.Ser25874=)
c.67476_67477delinsCA (p.Ser22492=)
2g.178531888G>ACA430235549TTN,TTN-AS1c.97023C>T (p.Ser32341=)
c.78108C>T (p.Ser26036=)
c.77907C>T (p.Ser25969=)
c.77532C>T (p.Ser25844=)
c.104727C>T (p.Ser34909=)
c.99804C>T (p.Ser33268=)
n.446+8252G>A
n.220-3844G>A
c.103824C>T (p.Ser34608=)
c.77718C>T (p.Ser25906=)
c.77577C>T (p.Ser25859=)
c.103620C>T (p.Ser34540=)
c.99018C>T (p.Ser33006=)
c.99015C>T (p.Ser33005=)
c.96057C>T (p.Ser32019=)
c.77673C>T (p.Ser25891=)
c.99168C>T (p.Ser33056=)
c.99165C>T (p.Ser33055=)
c.98598C>T (p.Ser32866=)
c.95940C>T (p.Ser31980=)
c.95859C>T (p.Ser31953=)
c.77622C>T (p.Ser25874=)
c.67476C>T (p.Ser22492=)
 gnomAD v4
2g.178531888G>CCA430235550TTN,TTN-AS1c.97023C>G (p.Ser32341=)
c.78108C>G (p.Ser26036=)
c.77907C>G (p.Ser25969=)
c.77532C>G (p.Ser25844=)
c.104727C>G (p.Ser34909=)
c.99804C>G (p.Ser33268=)
n.446+8252G>C
n.220-3844G>C
c.103824C>G (p.Ser34608=)
c.77718C>G (p.Ser25906=)
c.77577C>G (p.Ser25859=)
c.103620C>G (p.Ser34540=)
c.99018C>G (p.Ser33006=)
c.99015C>G (p.Ser33005=)
c.96057C>G (p.Ser32019=)
c.77673C>G (p.Ser25891=)
c.99168C>G (p.Ser33056=)
c.99165C>G (p.Ser33055=)
c.98598C>G (p.Ser32866=)
c.95940C>G (p.Ser31980=)
c.95859C>G (p.Ser31953=)
c.77622C>G (p.Ser25874=)
c.67476C>G (p.Ser22492=)
2g.178531888G=CA1310517967TTN,TTN-AS1c.97023C= (p.Ser32341=)
c.78108C= (p.Ser26036=)
c.77907C= (p.Ser25969=)
c.77532C= (p.Ser25844=)
c.104727C= (p.Ser34909=)
c.99804C= (p.Ser33268=)
n.446+8252G=
n.220-3844G=
c.103824C= (p.Ser34608=)
c.77718C= (p.Ser25906=)
c.77577C= (p.Ser25859=)
c.103620C= (p.Ser34540=)
c.99018C= (p.Ser33006=)
c.99015C= (p.Ser33005=)
c.96057C= (p.Ser32019=)
c.77673C= (p.Ser25891=)
c.99168C= (p.Ser33056=)
c.99165C= (p.Ser33055=)
c.98598C= (p.Ser32866=)
c.95940C= (p.Ser31980=)
c.95859C= (p.Ser31953=)
c.77622C= (p.Ser25874=)
c.67476C= (p.Ser22492=)
2g.178531888G>TCA430235551TTN,TTN-AS1c.97023C>A (p.Ser32341=)
c.78108C>A (p.Ser26036=)
c.77907C>A (p.Ser25969=)
c.77532C>A (p.Ser25844=)
c.104727C>A (p.Ser34909=)
c.99804C>A (p.Ser33268=)
n.446+8252G>T
n.220-3844G>T
c.103824C>A (p.Ser34608=)
c.77718C>A (p.Ser25906=)
c.77577C>A (p.Ser25859=)
c.103620C>A (p.Ser34540=)
c.99018C>A (p.Ser33006=)
c.99015C>A (p.Ser33005=)
c.96057C>A (p.Ser32019=)
c.77673C>A (p.Ser25891=)
c.99168C>A (p.Ser33056=)
c.99165C>A (p.Ser33055=)
c.98598C>A (p.Ser32866=)
c.95940C>A (p.Ser31980=)
c.95859C>A (p.Ser31953=)
c.77622C>A (p.Ser25874=)
c.67476C>A (p.Ser22492=)
 dbSNP
2g.178531889delCA1985370TTN,TTN-AS1c.97023del (p.Arg32342GlyfsTer5)
c.78108del (p.Arg26037GlyfsTer5)
c.77907del (p.Arg25970GlyfsTer5)
c.77532del (p.Arg25845GlyfsTer5)
c.104727del (p.Arg34910GlyfsTer5)
c.99804del (p.Arg33269GlyfsTer5)
n.446+8253del
n.220-3843del
c.103824del (p.Arg34609GlyfsTer5)
c.77718del (p.Arg25907GlyfsTer5)
c.77577del (p.Arg25860GlyfsTer5)
c.103620del (p.Arg34541GlyfsTer5)
c.99018del (p.Arg33007GlyfsTer5)
c.99015del (p.Arg33006GlyfsTer5)
c.96057del (p.Arg32020GlyfsTer5)
c.77673del (p.Arg25892GlyfsTer5)
c.99168del (p.Arg33057GlyfsTer5)
c.99165del (p.Arg33056GlyfsTer5)
c.98598del (p.Arg32867GlyfsTer5)
c.95940del (p.Arg31981GlyfsTer5)
c.95859del (p.Arg31954GlyfsTer5)
c.77622del (p.Arg25875GlyfsTer5)
c.67476del (p.Arg22493GlyfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531888_178531915delinsGGAAAAGATATCAAATCTTGCAGACCTCCA1310517969TTN,TTN-AS1c.96996_97023delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32332=)
c.78081_78108delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu26027=)
c.77880_77907delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25960=)
c.77505_77532delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25835=)
c.104700_104727delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34900=)
c.99777_99804delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33259=)
n.446+8252_446+8279delinsGGAAAAGATATCAAATCTTGCAGACCTC
n.220-3844_220-3817delinsGGAAAAGATATCAAATCTTGCAGACCTC
c.103797_103824delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34599=)
c.77691_77718delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25897=)
c.77550_77577delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25850=)
c.103593_103620delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34531=)
c.98991_99018delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32997=)
c.98988_99015delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32996=)
c.96030_96057delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32010=)
c.77646_77673delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25882=)
c.99141_99168delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33047=)
c.99138_99165delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33046=)
c.98571_98598delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32857=)
c.95913_95940delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu31971=)
c.95832_95859delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu31944=)
c.77595_77622delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25865=)
c.67449_67476delinsGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu22483=)
2g.178531888_178531916delinsGGAAAAGATATCAAATCTTGCAGACCTCTCA1310517968TTN,TTN-AS1c.96995_97023delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32332=)
c.78080_78108delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu26027=)
c.77879_77907delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25960=)
c.77504_77532delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25835=)
c.104699_104727delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34900=)
c.99776_99804delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33259=)
n.446+8252_446+8280delinsGGAAAAGATATCAAATCTTGCAGACCTCT
n.220-3844_220-3816delinsGGAAAAGATATCAAATCTTGCAGACCTCT
c.103796_103824delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34599=)
c.77690_77718delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25897=)
c.77549_77577delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25850=)
c.103592_103620delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu34531=)
c.98990_99018delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32997=)
c.98987_99015delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32996=)
c.96029_96057delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32010=)
c.77645_77673delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25882=)
c.99140_99168delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33047=)
c.99137_99165delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu33046=)
c.98570_98598delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu32857=)
c.95912_95940delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu31971=)
c.95831_95859delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu31944=)
c.77594_77622delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu25865=)
c.67448_67476delinsAGAGGTCTGCAAGATTTGATATCTTTTCC (p.Glu22483=)
2g.178531889G>ACA1985371TTN,TTN-AS1c.97022C>T (p.Ser32341Phe)
c.78107C>T (p.Ser26036Phe)
c.77906C>T (p.Ser25969Phe)
c.77531C>T (p.Ser25844Phe)
c.104726C>T (p.Ser34909Phe)
c.99803C>T (p.Ser33268Phe)
n.446+8253G>A
n.220-3843G>A
c.103823C>T (p.Ser34608Phe)
c.77717C>T (p.Ser25906Phe)
c.77576C>T (p.Ser25859Phe)
c.103619C>T (p.Ser34540Phe)
c.99017C>T (p.Ser33006Phe)
c.99014C>T (p.Ser33005Phe)
c.96056C>T (p.Ser32019Phe)
c.77672C>T (p.Ser25891Phe)
c.99167C>T (p.Ser33056Phe)
c.99164C>T (p.Ser33055Phe)
c.98597C>T (p.Ser32866Phe)
c.95939C>T (p.Ser31980Phe)
c.95858C>T (p.Ser31953Phe)
c.77621C>T (p.Ser25874Phe)
c.67475C>T (p.Ser22492Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531889G>CCA349411059TTN,TTN-AS1c.97022C>G (p.Ser32341Cys)
c.78107C>G (p.Ser26036Cys)
c.77906C>G (p.Ser25969Cys)
c.77531C>G (p.Ser25844Cys)
c.104726C>G (p.Ser34909Cys)
c.99803C>G (p.Ser33268Cys)
n.446+8253G>C
n.220-3843G>C
c.103823C>G (p.Ser34608Cys)
c.77717C>G (p.Ser25906Cys)
c.77576C>G (p.Ser25859Cys)
c.103619C>G (p.Ser34540Cys)
c.99017C>G (p.Ser33006Cys)
c.99014C>G (p.Ser33005Cys)
c.96056C>G (p.Ser32019Cys)
c.77672C>G (p.Ser25891Cys)
c.99167C>G (p.Ser33056Cys)
c.99164C>G (p.Ser33055Cys)
c.98597C>G (p.Ser32866Cys)
c.95939C>G (p.Ser31980Cys)
c.95858C>G (p.Ser31953Cys)
c.77621C>G (p.Ser25874Cys)
c.67475C>G (p.Ser22492Cys)
2g.178531889G=CA1310517971TTN,TTN-AS1c.97022C= (p.Ser32341=)
c.78107C= (p.Ser26036=)
c.77906C= (p.Ser25969=)
c.77531C= (p.Ser25844=)
c.104726C= (p.Ser34909=)
c.99803C= (p.Ser33268=)
n.446+8253G=
n.220-3843G=
c.103823C= (p.Ser34608=)
c.77717C= (p.Ser25906=)
c.77576C= (p.Ser25859=)
c.103619C= (p.Ser34540=)
c.99017C= (p.Ser33006=)
c.99014C= (p.Ser33005=)
c.96056C= (p.Ser32019=)
c.77672C= (p.Ser25891=)
c.99167C= (p.Ser33056=)
c.99164C= (p.Ser33055=)
c.98597C= (p.Ser32866=)
c.95939C= (p.Ser31980=)
c.95858C= (p.Ser31953=)
c.77621C= (p.Ser25874=)
c.67475C= (p.Ser22492=)
2g.178531889G>TCA349411060TTN,TTN-AS1c.97022C>A (p.Ser32341Tyr)
c.78107C>A (p.Ser26036Tyr)
c.77906C>A (p.Ser25969Tyr)
c.77531C>A (p.Ser25844Tyr)
c.104726C>A (p.Ser34909Tyr)
c.99803C>A (p.Ser33268Tyr)
n.446+8253G>T
n.220-3843G>T
c.103823C>A (p.Ser34608Tyr)
c.77717C>A (p.Ser25906Tyr)
c.77576C>A (p.Ser25859Tyr)
c.103619C>A (p.Ser34540Tyr)
c.99017C>A (p.Ser33006Tyr)
c.99014C>A (p.Ser33005Tyr)
c.96056C>A (p.Ser32019Tyr)
c.77672C>A (p.Ser25891Tyr)
c.99167C>A (p.Ser33056Tyr)
c.99164C>A (p.Ser33055Tyr)
c.98597C>A (p.Ser32866Tyr)
c.95939C>A (p.Ser31980Tyr)
c.95858C>A (p.Ser31953Tyr)
c.77621C>A (p.Ser25874Tyr)
c.67475C>A (p.Ser22492Tyr)
2g.178531889_178531915delCA1310517970TTN,TTN-AS1c.96996_97022del (p.Glu32332_Ser32341delinsAsp)
c.78081_78107del (p.Glu26027_Ser26036delinsAsp)
c.77880_77906del (p.Glu25960_Ser25969delinsAsp)
c.77505_77531del (p.Glu25835_Ser25844delinsAsp)
c.104700_104726del (p.Glu34900_Ser34909delinsAsp)
c.99777_99803del (p.Glu33259_Ser33268delinsAsp)
n.446+8253_446+8279del
n.220-3843_220-3817del
c.103797_103823del (p.Glu34599_Ser34608delinsAsp)
c.77691_77717del (p.Glu25897_Ser25906delinsAsp)
c.77550_77576del (p.Glu25850_Ser25859delinsAsp)
c.103593_103619del (p.Glu34531_Ser34540delinsAsp)
c.98991_99017del (p.Glu32997_Ser33006delinsAsp)
c.98988_99014del (p.Glu32996_Ser33005delinsAsp)
c.96030_96056del (p.Glu32010_Ser32019delinsAsp)
c.77646_77672del (p.Glu25882_Ser25891delinsAsp)
c.99141_99167del (p.Glu33047_Ser33056delinsAsp)
c.99138_99164del (p.Glu33046_Ser33055delinsAsp)
c.98571_98597del (p.Glu32857_Ser32866delinsAsp)
c.95913_95939del (p.Glu31971_Ser31980delinsAsp)
c.95832_95858del (p.Glu31944_Ser31953delinsAsp)
c.77595_77621del (p.Glu25865_Ser25874delinsAsp)
c.67449_67475del (p.Glu22483_Ser22492delinsAsp)
 dbSNP
2g.178531889_178531916delinsACA1139657374TTN,TTN-AS1c.96995_97022delinsT (p.Glu32332_Ser32341delinsVal)
c.78080_78107delinsT (p.Glu26027_Ser26036delinsVal)
c.77879_77906delinsT (p.Glu25960_Ser25969delinsVal)
c.77504_77531delinsT (p.Glu25835_Ser25844delinsVal)
c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
c.99776_99803delinsT (p.Glu33259_Ser33268delinsVal)
n.446+8253_446+8280delinsA
n.220-3843_220-3816delinsA
c.103796_103823delinsT (p.Glu34599_Ser34608delinsVal)
c.77690_77717delinsT (p.Glu25897_Ser25906delinsVal)
c.77549_77576delinsT (p.Glu25850_Ser25859delinsVal)
c.103592_103619delinsT (p.Glu34531_Ser34540delinsVal)
c.98990_99017delinsT (p.Glu32997_Ser33006delinsVal)
c.98987_99014delinsT (p.Glu32996_Ser33005delinsVal)
c.96029_96056delinsT (p.Glu32010_Ser32019delinsVal)
c.77645_77672delinsT (p.Glu25882_Ser25891delinsVal)
c.99140_99167delinsT (p.Glu33047_Ser33056delinsVal)
c.99137_99164delinsT (p.Glu33046_Ser33055delinsVal)
c.98570_98597delinsT (p.Glu32857_Ser32866delinsVal)
c.95912_95939delinsT (p.Glu31971_Ser31980delinsVal)
c.95831_95858delinsT (p.Glu31944_Ser31953delinsVal)
c.77594_77621delinsT (p.Glu25865_Ser25874delinsVal)
c.67448_67475delinsT (p.Glu22483_Ser22492delinsVal)
 ClinVar dbSNP
2g.178531890A>CCA349411061TTN,TTN-AS1c.97021T>G (p.Ser32341Ala)
c.78106T>G (p.Ser26036Ala)
c.77905T>G (p.Ser25969Ala)
c.77530T>G (p.Ser25844Ala)
c.104725T>G (p.Ser34909Ala)
c.99802T>G (p.Ser33268Ala)
n.446+8254A>C
n.220-3842A>C
c.103822T>G (p.Ser34608Ala)
c.77716T>G (p.Ser25906Ala)
c.77575T>G (p.Ser25859Ala)
c.103618T>G (p.Ser34540Ala)
c.99016T>G (p.Ser33006Ala)
c.99013T>G (p.Ser33005Ala)
c.96055T>G (p.Ser32019Ala)
c.77671T>G (p.Ser25891Ala)
c.99166T>G (p.Ser33056Ala)
c.99163T>G (p.Ser33055Ala)
c.98596T>G (p.Ser32866Ala)
c.95938T>G (p.Ser31980Ala)
c.95857T>G (p.Ser31953Ala)
c.77620T>G (p.Ser25874Ala)
c.67474T>G (p.Ser22492Ala)
2g.178531890A>GCA349411063TTN,TTN-AS1c.97021T>C (p.Ser32341Pro)
c.78106T>C (p.Ser26036Pro)
c.77905T>C (p.Ser25969Pro)
c.77530T>C (p.Ser25844Pro)
c.104725T>C (p.Ser34909Pro)
c.99802T>C (p.Ser33268Pro)
n.446+8254A>G
n.220-3842A>G
c.103822T>C (p.Ser34608Pro)
c.77716T>C (p.Ser25906Pro)
c.77575T>C (p.Ser25859Pro)
c.103618T>C (p.Ser34540Pro)
c.99016T>C (p.Ser33006Pro)
c.99013T>C (p.Ser33005Pro)
c.96055T>C (p.Ser32019Pro)
c.77671T>C (p.Ser25891Pro)
c.99166T>C (p.Ser33056Pro)
c.99163T>C (p.Ser33055Pro)
c.98596T>C (p.Ser32866Pro)
c.95938T>C (p.Ser31980Pro)
c.95857T>C (p.Ser31953Pro)
c.77620T>C (p.Ser25874Pro)
c.67474T>C (p.Ser22492Pro)
2g.178531890A>TCA349411062TTN,TTN-AS1c.97021T>A (p.Ser32341Thr)
c.78106T>A (p.Ser26036Thr)
c.77905T>A (p.Ser25969Thr)
c.77530T>A (p.Ser25844Thr)
c.104725T>A (p.Ser34909Thr)
c.99802T>A (p.Ser33268Thr)
n.446+8254A>T
n.220-3842A>T
c.103822T>A (p.Ser34608Thr)
c.77716T>A (p.Ser25906Thr)
c.77575T>A (p.Ser25859Thr)
c.103618T>A (p.Ser34540Thr)
c.99016T>A (p.Ser33006Thr)
c.99013T>A (p.Ser33005Thr)
c.96055T>A (p.Ser32019Thr)
c.77671T>A (p.Ser25891Thr)
c.99166T>A (p.Ser33056Thr)
c.99163T>A (p.Ser33055Thr)
c.98596T>A (p.Ser32866Thr)
c.95938T>A (p.Ser31980Thr)
c.95857T>A (p.Ser31953Thr)
c.77620T>A (p.Ser25874Thr)
c.67474T>A (p.Ser22492Thr)
2g.178531890_178531916delinsAAAAGATATCAAATCTTGCAGACCTCTCA1310517972TTN,TTN-AS1c.96995_97021delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu32332=)
c.78080_78106delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu26027=)
c.77879_77905delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25960=)
c.77504_77530delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25835=)
c.104699_104725delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu34900=)
c.99776_99802delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu33259=)
n.446+8254_446+8280delinsAAAAGATATCAAATCTTGCAGACCTCT
n.220-3842_220-3816delinsAAAAGATATCAAATCTTGCAGACCTCT
c.103796_103822delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu34599=)
c.77690_77716delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25897=)
c.77549_77575delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25850=)
c.103592_103618delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu34531=)
c.98990_99016delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu32997=)
c.98987_99013delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu32996=)
c.96029_96055delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu32010=)
c.77645_77671delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25882=)
c.99140_99166delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu33047=)
c.99137_99163delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu33046=)
c.98570_98596delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu32857=)
c.95912_95938delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu31971=)
c.95831_95857delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu31944=)
c.77594_77620delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu25865=)
c.67448_67474delinsAGAGGTCTGCAAGATTTGATATCTTTT (p.Glu22483=)
2g.178531891A=CA1310517973TTN,TTN-AS1c.97020T= (p.Phe32340=)
c.78105T= (p.Phe26035=)
c.77904T= (p.Phe25968=)
c.77529T= (p.Phe25843=)
c.104724T= (p.Phe34908=)
c.99801T= (p.Phe33267=)
n.446+8255A=
n.220-3841A=
c.103821T= (p.Phe34607=)
c.77715T= (p.Phe25905=)
c.77574T= (p.Phe25858=)
c.103617T= (p.Phe34539=)
c.99015T= (p.Phe33005=)
c.99012T= (p.Phe33004=)
c.96054T= (p.Phe32018=)
c.77670T= (p.Phe25890=)
c.99165T= (p.Phe33055=)
c.99162T= (p.Phe33054=)
c.98595T= (p.Phe32865=)
c.95937T= (p.Phe31979=)
c.95856T= (p.Phe31952=)
c.77619T= (p.Phe25873=)
c.67473T= (p.Phe22491=)
2g.178531891A>CCA349411064TTN,TTN-AS1c.97020T>G (p.Phe32340Leu)
c.78105T>G (p.Phe26035Leu)
c.77904T>G (p.Phe25968Leu)
c.77529T>G (p.Phe25843Leu)
c.104724T>G (p.Phe34908Leu)
c.99801T>G (p.Phe33267Leu)
n.446+8255A>C
n.220-3841A>C
c.103821T>G (p.Phe34607Leu)
c.77715T>G (p.Phe25905Leu)
c.77574T>G (p.Phe25858Leu)
c.103617T>G (p.Phe34539Leu)
c.99015T>G (p.Phe33005Leu)
c.99012T>G (p.Phe33004Leu)
c.96054T>G (p.Phe32018Leu)
c.77670T>G (p.Phe25890Leu)
c.99165T>G (p.Phe33055Leu)
c.99162T>G (p.Phe33054Leu)
c.98595T>G (p.Phe32865Leu)
c.95937T>G (p.Phe31979Leu)
c.95856T>G (p.Phe31952Leu)
c.77619T>G (p.Phe25873Leu)
c.67473T>G (p.Phe22491Leu)
2g.178531891A>GCA430235556TTN,TTN-AS1c.97020T>C (p.Phe32340=)
c.78105T>C (p.Phe26035=)
c.77904T>C (p.Phe25968=)
c.77529T>C (p.Phe25843=)
c.104724T>C (p.Phe34908=)
c.99801T>C (p.Phe33267=)
n.446+8255A>G
n.220-3841A>G
c.103821T>C (p.Phe34607=)
c.77715T>C (p.Phe25905=)
c.77574T>C (p.Phe25858=)
c.103617T>C (p.Phe34539=)
c.99015T>C (p.Phe33005=)
c.99012T>C (p.Phe33004=)
c.96054T>C (p.Phe32018=)
c.77670T>C (p.Phe25890=)
c.99165T>C (p.Phe33055=)
c.99162T>C (p.Phe33054=)
c.98595T>C (p.Phe32865=)
c.95937T>C (p.Phe31979=)
c.95856T>C (p.Phe31952=)
c.77619T>C (p.Phe25873=)
c.67473T>C (p.Phe22491=)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178531891A>TCA349411065TTN,TTN-AS1c.97020T>A (p.Phe32340Leu)
c.78105T>A (p.Phe26035Leu)
c.77904T>A (p.Phe25968Leu)
c.77529T>A (p.Phe25843Leu)
c.104724T>A (p.Phe34908Leu)
c.99801T>A (p.Phe33267Leu)
n.446+8255A>T
n.220-3841A>T
c.103821T>A (p.Phe34607Leu)
c.77715T>A (p.Phe25905Leu)
c.77574T>A (p.Phe25858Leu)
c.103617T>A (p.Phe34539Leu)
c.99015T>A (p.Phe33005Leu)
c.99012T>A (p.Phe33004Leu)
c.96054T>A (p.Phe32018Leu)
c.77670T>A (p.Phe25890Leu)
c.99165T>A (p.Phe33055Leu)
c.99162T>A (p.Phe33054Leu)
c.98595T>A (p.Phe32865Leu)
c.95937T>A (p.Phe31979Leu)
c.95856T>A (p.Phe31952Leu)
c.77619T>A (p.Phe25873Leu)
c.67473T>A (p.Phe22491Leu)
2g.178531891_178531916delCA1985372TTN,TTN-AS1c.96995_97020del (p.Glu32332ValfsTer4)
c.78080_78105del (p.Glu26027ValfsTer4)
c.77879_77904del (p.Glu25960ValfsTer4)
c.77504_77529del (p.Glu25835ValfsTer4)
c.104699_104724del (p.Glu34900ValfsTer4)
c.99776_99801del (p.Glu33259ValfsTer4)
n.446+8255_446+8280del
n.220-3841_220-3816del
c.103796_103821del (p.Glu34599ValfsTer4)
c.77690_77715del (p.Glu25897ValfsTer4)
c.77549_77574del (p.Glu25850ValfsTer4)
c.103592_103617del (p.Glu34531ValfsTer4)
c.98990_99015del (p.Glu32997ValfsTer4)
c.98987_99012del (p.Glu32996ValfsTer4)
c.96029_96054del (p.Glu32010ValfsTer4)
c.77645_77670del (p.Glu25882ValfsTer4)
c.99140_99165del (p.Glu33047ValfsTer4)
c.99137_99162del (p.Glu33046ValfsTer4)
c.98570_98595del (p.Glu32857ValfsTer4)
c.95912_95937del (p.Glu31971ValfsTer4)
c.95831_95856del (p.Glu31944ValfsTer4)
c.77594_77619del (p.Glu25865ValfsTer4)
c.67448_67473del (p.Glu22483ValfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531892A>CCA349411066TTN,TTN-AS1c.97019T>G (p.Phe32340Cys)
c.78104T>G (p.Phe26035Cys)
c.77903T>G (p.Phe25968Cys)
c.77528T>G (p.Phe25843Cys)
c.104723T>G (p.Phe34908Cys)
c.99800T>G (p.Phe33267Cys)
n.446+8256A>C
n.220-3840A>C
c.103820T>G (p.Phe34607Cys)
c.77714T>G (p.Phe25905Cys)
c.77573T>G (p.Phe25858Cys)
c.103616T>G (p.Phe34539Cys)
c.99014T>G (p.Phe33005Cys)
c.99011T>G (p.Phe33004Cys)
c.96053T>G (p.Phe32018Cys)
c.77669T>G (p.Phe25890Cys)
c.99164T>G (p.Phe33055Cys)
c.99161T>G (p.Phe33054Cys)
c.98594T>G (p.Phe32865Cys)
c.95936T>G (p.Phe31979Cys)
c.95855T>G (p.Phe31952Cys)
c.77618T>G (p.Phe25873Cys)
c.67472T>G (p.Phe22491Cys)
 gnomAD v4
2g.178531892A>GCA349411068TTN,TTN-AS1c.97019T>C (p.Phe32340Ser)
c.78104T>C (p.Phe26035Ser)
c.77903T>C (p.Phe25968Ser)
c.77528T>C (p.Phe25843Ser)
c.104723T>C (p.Phe34908Ser)
c.99800T>C (p.Phe33267Ser)
n.446+8256A>G
n.220-3840A>G
c.103820T>C (p.Phe34607Ser)
c.77714T>C (p.Phe25905Ser)
c.77573T>C (p.Phe25858Ser)
c.103616T>C (p.Phe34539Ser)
c.99014T>C (p.Phe33005Ser)
c.99011T>C (p.Phe33004Ser)
c.96053T>C (p.Phe32018Ser)
c.77669T>C (p.Phe25890Ser)
c.99164T>C (p.Phe33055Ser)
c.99161T>C (p.Phe33054Ser)
c.98594T>C (p.Phe32865Ser)
c.95936T>C (p.Phe31979Ser)
c.95855T>C (p.Phe31952Ser)
c.77618T>C (p.Phe25873Ser)
c.67472T>C (p.Phe22491Ser)
 gnomAD v4
2g.178531892A>TCA349411067TTN,TTN-AS1c.97019T>A (p.Phe32340Tyr)
c.78104T>A (p.Phe26035Tyr)
c.77903T>A (p.Phe25968Tyr)
c.77528T>A (p.Phe25843Tyr)
c.104723T>A (p.Phe34908Tyr)
c.99800T>A (p.Phe33267Tyr)
n.446+8256A>T
n.220-3840A>T
c.103820T>A (p.Phe34607Tyr)
c.77714T>A (p.Phe25905Tyr)
c.77573T>A (p.Phe25858Tyr)
c.103616T>A (p.Phe34539Tyr)
c.99014T>A (p.Phe33005Tyr)
c.99011T>A (p.Phe33004Tyr)
c.96053T>A (p.Phe32018Tyr)
c.77669T>A (p.Phe25890Tyr)
c.99164T>A (p.Phe33055Tyr)
c.99161T>A (p.Phe33054Tyr)
c.98594T>A (p.Phe32865Tyr)
c.95936T>A (p.Phe31979Tyr)
c.95855T>A (p.Phe31952Tyr)
c.77618T>A (p.Phe25873Tyr)
c.67472T>A (p.Phe22491Tyr)
2g.178531893A>CCA349411069TTN,TTN-AS1c.97018T>G (p.Phe32340Val)
c.78103T>G (p.Phe26035Val)
c.77902T>G (p.Phe25968Val)
c.77527T>G (p.Phe25843Val)
c.104722T>G (p.Phe34908Val)
c.99799T>G (p.Phe33267Val)
n.446+8257A>C
n.220-3839A>C
c.103819T>G (p.Phe34607Val)
c.77713T>G (p.Phe25905Val)
c.77572T>G (p.Phe25858Val)
c.103615T>G (p.Phe34539Val)
c.99013T>G (p.Phe33005Val)
c.99010T>G (p.Phe33004Val)
c.96052T>G (p.Phe32018Val)
c.77668T>G (p.Phe25890Val)
c.99163T>G (p.Phe33055Val)
c.99160T>G (p.Phe33054Val)
c.98593T>G (p.Phe32865Val)
c.95935T>G (p.Phe31979Val)
c.95854T>G (p.Phe31952Val)
c.77617T>G (p.Phe25873Val)
c.67471T>G (p.Phe22491Val)
2g.178531893A>GCA349411070TTN,TTN-AS1c.97018T>C (p.Phe32340Leu)
c.78103T>C (p.Phe26035Leu)
c.77902T>C (p.Phe25968Leu)
c.77527T>C (p.Phe25843Leu)
c.104722T>C (p.Phe34908Leu)
c.99799T>C (p.Phe33267Leu)
n.446+8257A>G
n.220-3839A>G
c.103819T>C (p.Phe34607Leu)
c.77713T>C (p.Phe25905Leu)
c.77572T>C (p.Phe25858Leu)
c.103615T>C (p.Phe34539Leu)
c.99013T>C (p.Phe33005Leu)
c.99010T>C (p.Phe33004Leu)
c.96052T>C (p.Phe32018Leu)
c.77668T>C (p.Phe25890Leu)
c.99163T>C (p.Phe33055Leu)
c.99160T>C (p.Phe33054Leu)
c.98593T>C (p.Phe32865Leu)
c.95935T>C (p.Phe31979Leu)
c.95854T>C (p.Phe31952Leu)
c.77617T>C (p.Phe25873Leu)
c.67471T>C (p.Phe22491Leu)
2g.178531893A>TCA349411071TTN,TTN-AS1c.97018T>A (p.Phe32340Ile)
c.78103T>A (p.Phe26035Ile)
c.77902T>A (p.Phe25968Ile)
c.77527T>A (p.Phe25843Ile)
c.104722T>A (p.Phe34908Ile)
c.99799T>A (p.Phe33267Ile)
n.446+8257A>T
n.220-3839A>T
c.103819T>A (p.Phe34607Ile)
c.77713T>A (p.Phe25905Ile)
c.77572T>A (p.Phe25858Ile)
c.103615T>A (p.Phe34539Ile)
c.99013T>A (p.Phe33005Ile)
c.99010T>A (p.Phe33004Ile)
c.96052T>A (p.Phe32018Ile)
c.77668T>A (p.Phe25890Ile)
c.99163T>A (p.Phe33055Ile)
c.99160T>A (p.Phe33054Ile)
c.98593T>A (p.Phe32865Ile)
c.95935T>A (p.Phe31979Ile)
c.95854T>A (p.Phe31952Ile)
c.77617T>A (p.Phe25873Ile)
c.67471T>A (p.Phe22491Ile)
2g.178531894G>ACA430235557TTN,TTN-AS1c.97017C>T (p.Ile32339=)
c.78102C>T (p.Ile26034=)
c.77901C>T (p.Ile25967=)
c.77526C>T (p.Ile25842=)
c.104721C>T (p.Ile34907=)
c.99798C>T (p.Ile33266=)
n.446+8258G>A
n.220-3838G>A
c.103818C>T (p.Ile34606=)
c.77712C>T (p.Ile25904=)
c.77571C>T (p.Ile25857=)
c.103614C>T (p.Ile34538=)
c.99012C>T (p.Ile33004=)
c.99009C>T (p.Ile33003=)
c.96051C>T (p.Ile32017=)
c.77667C>T (p.Ile25889=)
c.99162C>T (p.Ile33054=)
c.99159C>T (p.Ile33053=)
c.98592C>T (p.Ile32864=)
c.95934C>T (p.Ile31978=)
c.95853C>T (p.Ile31951=)
c.77616C>T (p.Ile25872=)
c.67470C>T (p.Ile22490=)
 gnomAD v4
2g.178531894G>CCA349411072TTN,TTN-AS1c.97017C>G (p.Ile32339Met)
c.78102C>G (p.Ile26034Met)
c.77901C>G (p.Ile25967Met)
c.77526C>G (p.Ile25842Met)
c.104721C>G (p.Ile34907Met)
c.99798C>G (p.Ile33266Met)
n.446+8258G>C
n.220-3838G>C
c.103818C>G (p.Ile34606Met)
c.77712C>G (p.Ile25904Met)
c.77571C>G (p.Ile25857Met)
c.103614C>G (p.Ile34538Met)
c.99012C>G (p.Ile33004Met)
c.99009C>G (p.Ile33003Met)
c.96051C>G (p.Ile32017Met)
c.77667C>G (p.Ile25889Met)
c.99162C>G (p.Ile33054Met)
c.99159C>G (p.Ile33053Met)
c.98592C>G (p.Ile32864Met)
c.95934C>G (p.Ile31978Met)
c.95853C>G (p.Ile31951Met)
c.77616C>G (p.Ile25872Met)
c.67470C>G (p.Ile22490Met)
 dbSNP
2g.178531894G=CA1310517974TTN,TTN-AS1c.97017C= (p.Ile32339=)
c.78102C= (p.Ile26034=)
c.77901C= (p.Ile25967=)
c.77526C= (p.Ile25842=)
c.104721C= (p.Ile34907=)
c.99798C= (p.Ile33266=)
n.446+8258G=
n.220-3838G=
c.103818C= (p.Ile34606=)
c.77712C= (p.Ile25904=)
c.77571C= (p.Ile25857=)
c.103614C= (p.Ile34538=)
c.99012C= (p.Ile33004=)
c.99009C= (p.Ile33003=)
c.96051C= (p.Ile32017=)
c.77667C= (p.Ile25889=)
c.99162C= (p.Ile33054=)
c.99159C= (p.Ile33053=)
c.98592C= (p.Ile32864=)
c.95934C= (p.Ile31978=)
c.95853C= (p.Ile31951=)
c.77616C= (p.Ile25872=)
c.67470C= (p.Ile22490=)
2g.178531894G>TCA1985373TTN,TTN-AS1c.97017C>A (p.Ile32339=)
c.78102C>A (p.Ile26034=)
c.77901C>A (p.Ile25967=)
c.77526C>A (p.Ile25842=)
c.104721C>A (p.Ile34907=)
c.99798C>A (p.Ile33266=)
n.446+8258G>T
n.220-3838G>T
c.103818C>A (p.Ile34606=)
c.77712C>A (p.Ile25904=)
c.77571C>A (p.Ile25857=)
c.103614C>A (p.Ile34538=)
c.99012C>A (p.Ile33004=)
c.99009C>A (p.Ile33003=)
c.96051C>A (p.Ile32017=)
c.77667C>A (p.Ile25889=)
c.99162C>A (p.Ile33054=)
c.99159C>A (p.Ile33053=)
c.98592C>A (p.Ile32864=)
c.95934C>A (p.Ile31978=)
c.95853C>A (p.Ile31951=)
c.77616C>A (p.Ile25872=)
c.67470C>A (p.Ile22490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531895A=CA1310517975TTN,TTN-AS1c.97016T= (p.Ile32339=)
c.78101T= (p.Ile26034=)
c.77900T= (p.Ile25967=)
c.77525T= (p.Ile25842=)
c.104720T= (p.Ile34907=)
c.99797T= (p.Ile33266=)
n.446+8259A=
n.220-3837A=
c.103817T= (p.Ile34606=)
c.77711T= (p.Ile25904=)
c.77570T= (p.Ile25857=)
c.103613T= (p.Ile34538=)
c.99011T= (p.Ile33004=)
c.99008T= (p.Ile33003=)
c.96050T= (p.Ile32017=)
c.77666T= (p.Ile25889=)
c.99161T= (p.Ile33054=)
c.99158T= (p.Ile33053=)
c.98591T= (p.Ile32864=)
c.95933T= (p.Ile31978=)
c.95852T= (p.Ile31951=)
c.77615T= (p.Ile25872=)
c.67469T= (p.Ile22490=)
2g.178531895A>CCA349411073TTN,TTN-AS1c.97016T>G (p.Ile32339Ser)
c.78101T>G (p.Ile26034Ser)
c.77900T>G (p.Ile25967Ser)
c.77525T>G (p.Ile25842Ser)
c.104720T>G (p.Ile34907Ser)
c.99797T>G (p.Ile33266Ser)
n.446+8259A>C
n.220-3837A>C
c.103817T>G (p.Ile34606Ser)
c.77711T>G (p.Ile25904Ser)
c.77570T>G (p.Ile25857Ser)
c.103613T>G (p.Ile34538Ser)
c.99011T>G (p.Ile33004Ser)
c.99008T>G (p.Ile33003Ser)
c.96050T>G (p.Ile32017Ser)
c.77666T>G (p.Ile25889Ser)
c.99161T>G (p.Ile33054Ser)
c.99158T>G (p.Ile33053Ser)
c.98591T>G (p.Ile32864Ser)
c.95933T>G (p.Ile31978Ser)
c.95852T>G (p.Ile31951Ser)
c.77615T>G (p.Ile25872Ser)
c.67469T>G (p.Ile22490Ser)
2g.178531895A>GCA349411074TTN,TTN-AS1c.97016T>C (p.Ile32339Thr)
c.78101T>C (p.Ile26034Thr)
c.77900T>C (p.Ile25967Thr)
c.77525T>C (p.Ile25842Thr)
c.104720T>C (p.Ile34907Thr)
c.99797T>C (p.Ile33266Thr)
n.446+8259A>G
n.220-3837A>G
c.103817T>C (p.Ile34606Thr)
c.77711T>C (p.Ile25904Thr)
c.77570T>C (p.Ile25857Thr)
c.103613T>C (p.Ile34538Thr)
c.99011T>C (p.Ile33004Thr)
c.99008T>C (p.Ile33003Thr)
c.96050T>C (p.Ile32017Thr)
c.77666T>C (p.Ile25889Thr)
c.99161T>C (p.Ile33054Thr)
c.99158T>C (p.Ile33053Thr)
c.98591T>C (p.Ile32864Thr)
c.95933T>C (p.Ile31978Thr)
c.95852T>C (p.Ile31951Thr)
c.77615T>C (p.Ile25872Thr)
c.67469T>C (p.Ile22490Thr)
 ClinVar
2g.178531895A>TCA60955995TTN,TTN-AS1c.97016T>A (p.Ile32339Asn)
c.78101T>A (p.Ile26034Asn)
c.77900T>A (p.Ile25967Asn)
c.77525T>A (p.Ile25842Asn)
c.104720T>A (p.Ile34907Asn)
c.99797T>A (p.Ile33266Asn)
n.446+8259A>T
n.220-3837A>T
c.103817T>A (p.Ile34606Asn)
c.77711T>A (p.Ile25904Asn)
c.77570T>A (p.Ile25857Asn)
c.103613T>A (p.Ile34538Asn)
c.99011T>A (p.Ile33004Asn)
c.99008T>A (p.Ile33003Asn)
c.96050T>A (p.Ile32017Asn)
c.77666T>A (p.Ile25889Asn)
c.99161T>A (p.Ile33054Asn)
c.99158T>A (p.Ile33053Asn)
c.98591T>A (p.Ile32864Asn)
c.95933T>A (p.Ile31978Asn)
c.95852T>A (p.Ile31951Asn)
c.77615T>A (p.Ile25872Asn)
c.67469T>A (p.Ile22490Asn)
 dbSNP
2g.178531896T>ACA349411075TTN,TTN-AS1c.97015A>T (p.Ile32339Phe)
c.78100A>T (p.Ile26034Phe)
c.77899A>T (p.Ile25967Phe)
c.77524A>T (p.Ile25842Phe)
c.104719A>T (p.Ile34907Phe)
c.99796A>T (p.Ile33266Phe)
n.446+8260T>A
n.220-3836T>A
c.103816A>T (p.Ile34606Phe)
c.77710A>T (p.Ile25904Phe)
c.77569A>T (p.Ile25857Phe)
c.103612A>T (p.Ile34538Phe)
c.99010A>T (p.Ile33004Phe)
c.99007A>T (p.Ile33003Phe)
c.96049A>T (p.Ile32017Phe)
c.77665A>T (p.Ile25889Phe)
c.99160A>T (p.Ile33054Phe)
c.99157A>T (p.Ile33053Phe)
c.98590A>T (p.Ile32864Phe)
c.95932A>T (p.Ile31978Phe)
c.95851A>T (p.Ile31951Phe)
c.77614A>T (p.Ile25872Phe)
c.67468A>T (p.Ile22490Phe)
2g.178531896T>CCA349411076TTN,TTN-AS1c.97015A>G (p.Ile32339Val)
c.78100A>G (p.Ile26034Val)
c.77899A>G (p.Ile25967Val)
c.77524A>G (p.Ile25842Val)
c.104719A>G (p.Ile34907Val)
c.99796A>G (p.Ile33266Val)
n.446+8260T>C
n.220-3836T>C
c.103816A>G (p.Ile34606Val)
c.77710A>G (p.Ile25904Val)
c.77569A>G (p.Ile25857Val)
c.103612A>G (p.Ile34538Val)
c.99010A>G (p.Ile33004Val)
c.99007A>G (p.Ile33003Val)
c.96049A>G (p.Ile32017Val)
c.77665A>G (p.Ile25889Val)
c.99160A>G (p.Ile33054Val)
c.99157A>G (p.Ile33053Val)
c.98590A>G (p.Ile32864Val)
c.95932A>G (p.Ile31978Val)
c.95851A>G (p.Ile31951Val)
c.77614A>G (p.Ile25872Val)
c.67468A>G (p.Ile22490Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178531896T>GCA349411077TTN,TTN-AS1c.97015A>C (p.Ile32339Leu)
c.78100A>C (p.Ile26034Leu)
c.77899A>C (p.Ile25967Leu)
c.77524A>C (p.Ile25842Leu)
c.104719A>C (p.Ile34907Leu)
c.99796A>C (p.Ile33266Leu)
n.446+8260T>G
n.220-3836T>G
c.103816A>C (p.Ile34606Leu)
c.77710A>C (p.Ile25904Leu)
c.77569A>C (p.Ile25857Leu)
c.103612A>C (p.Ile34538Leu)
c.99010A>C (p.Ile33004Leu)
c.99007A>C (p.Ile33003Leu)
c.96049A>C (p.Ile32017Leu)
c.77665A>C (p.Ile25889Leu)
c.99160A>C (p.Ile33054Leu)
c.99157A>C (p.Ile33053Leu)
c.98590A>C (p.Ile32864Leu)
c.95932A>C (p.Ile31978Leu)
c.95851A>C (p.Ile31951Leu)
c.77614A>C (p.Ile25872Leu)
c.67468A>C (p.Ile22490Leu)
2g.178531896T=CA1310517976TTN,TTN-AS1c.97015A= (p.Ile32339=)
c.78100A= (p.Ile26034=)
c.77899A= (p.Ile25967=)
c.77524A= (p.Ile25842=)
c.104719A= (p.Ile34907=)
c.99796A= (p.Ile33266=)
n.446+8260T=
n.220-3836T=
c.103816A= (p.Ile34606=)
c.77710A= (p.Ile25904=)
c.77569A= (p.Ile25857=)
c.103612A= (p.Ile34538=)
c.99010A= (p.Ile33004=)
c.99007A= (p.Ile33003=)
c.96049A= (p.Ile32017=)
c.77665A= (p.Ile25889=)
c.99160A= (p.Ile33054=)
c.99157A= (p.Ile33053=)
c.98590A= (p.Ile32864=)
c.95932A= (p.Ile31978=)
c.95851A= (p.Ile31951=)
c.77614A= (p.Ile25872=)
c.67468A= (p.Ile22490=)
2g.178531897A>CCA349411079TTN,TTN-AS1c.97014T>G (p.Asp32338Glu)
c.78099T>G (p.Asp26033Glu)
c.77898T>G (p.Asp25966Glu)
c.77523T>G (p.Asp25841Glu)
c.104718T>G (p.Asp34906Glu)
c.99795T>G (p.Asp33265Glu)
n.446+8261A>C
n.220-3835A>C
c.103815T>G (p.Asp34605Glu)
c.77709T>G (p.Asp25903Glu)
c.77568T>G (p.Asp25856Glu)
c.103611T>G (p.Asp34537Glu)
c.99009T>G (p.Asp33003Glu)
c.99006T>G (p.Asp33002Glu)
c.96048T>G (p.Asp32016Glu)
c.77664T>G (p.Asp25888Glu)
c.99159T>G (p.Asp33053Glu)
c.99156T>G (p.Asp33052Glu)
c.98589T>G (p.Asp32863Glu)
c.95931T>G (p.Asp31977Glu)
c.95850T>G (p.Asp31950Glu)
c.77613T>G (p.Asp25871Glu)
c.67467T>G (p.Asp22489Glu)
2g.178531897A>GCA430235563TTN,TTN-AS1c.97014T>C (p.Asp32338=)
c.78099T>C (p.Asp26033=)
c.77898T>C (p.Asp25966=)
c.77523T>C (p.Asp25841=)
c.104718T>C (p.Asp34906=)
c.99795T>C (p.Asp33265=)
n.446+8261A>G
n.220-3835A>G
c.103815T>C (p.Asp34605=)
c.77709T>C (p.Asp25903=)
c.77568T>C (p.Asp25856=)
c.103611T>C (p.Asp34537=)
c.99009T>C (p.Asp33003=)
c.99006T>C (p.Asp33002=)
c.96048T>C (p.Asp32016=)
c.77664T>C (p.Asp25888=)
c.99159T>C (p.Asp33053=)
c.99156T>C (p.Asp33052=)
c.98589T>C (p.Asp32863=)
c.95931T>C (p.Asp31977=)
c.95850T>C (p.Asp31950=)
c.77613T>C (p.Asp25871=)
c.67467T>C (p.Asp22489=)
2g.178531897A>TCA349411078TTN,TTN-AS1c.97014T>A (p.Asp32338Glu)
c.78099T>A (p.Asp26033Glu)
c.77898T>A (p.Asp25966Glu)
c.77523T>A (p.Asp25841Glu)
c.104718T>A (p.Asp34906Glu)
c.99795T>A (p.Asp33265Glu)
n.446+8261A>T
n.220-3835A>T
c.103815T>A (p.Asp34605Glu)
c.77709T>A (p.Asp25903Glu)
c.77568T>A (p.Asp25856Glu)
c.103611T>A (p.Asp34537Glu)
c.99009T>A (p.Asp33003Glu)
c.99006T>A (p.Asp33002Glu)
c.96048T>A (p.Asp32016Glu)
c.77664T>A (p.Asp25888Glu)
c.99159T>A (p.Asp33053Glu)
c.99156T>A (p.Asp33052Glu)
c.98589T>A (p.Asp32863Glu)
c.95931T>A (p.Asp31977Glu)
c.95850T>A (p.Asp31950Glu)
c.77613T>A (p.Asp25871Glu)
c.67467T>A (p.Asp22489Glu)
2g.178531898delCA2586965151TTN,TTN-AS1c.97013del (p.Asp32338ValfsTer9)
c.78098del (p.Asp26033ValfsTer9)
c.77897del (p.Asp25966ValfsTer9)
c.77522del (p.Asp25841ValfsTer9)
c.104717del (p.Asp34906ValfsTer9)
c.99794del (p.Asp33265ValfsTer9)
n.446+8262del
n.220-3834del
c.103814del (p.Asp34605ValfsTer9)
c.77708del (p.Asp25903ValfsTer9)
c.77567del (p.Asp25856ValfsTer9)
c.103610del (p.Asp34537ValfsTer9)
c.99008del (p.Asp33003ValfsTer9)
c.99005del (p.Asp33002ValfsTer9)
c.96047del (p.Asp32016ValfsTer9)
c.77663del (p.Asp25888ValfsTer9)
c.99158del (p.Asp33053ValfsTer9)
c.99155del (p.Asp33052ValfsTer9)
c.98588del (p.Asp32863ValfsTer9)
c.95930del (p.Asp31977ValfsTer9)
c.95849del (p.Asp31950ValfsTer9)
c.77612del (p.Asp25871ValfsTer9)
c.67466del (p.Asp22489ValfsTer9)
2g.178531898T>ACA349411080TTN,TTN-AS1c.97013A>T (p.Asp32338Val)
c.78098A>T (p.Asp26033Val)
c.77897A>T (p.Asp25966Val)
c.77522A>T (p.Asp25841Val)
c.104717A>T (p.Asp34906Val)
c.99794A>T (p.Asp33265Val)
n.446+8262T>A
n.220-3834T>A
c.103814A>T (p.Asp34605Val)
c.77708A>T (p.Asp25903Val)
c.77567A>T (p.Asp25856Val)
c.103610A>T (p.Asp34537Val)
c.99008A>T (p.Asp33003Val)
c.99005A>T (p.Asp33002Val)
c.96047A>T (p.Asp32016Val)
c.77663A>T (p.Asp25888Val)
c.99158A>T (p.Asp33053Val)
c.99155A>T (p.Asp33052Val)
c.98588A>T (p.Asp32863Val)
c.95930A>T (p.Asp31977Val)
c.95849A>T (p.Asp31950Val)
c.77612A>T (p.Asp25871Val)
c.67466A>T (p.Asp22489Val)
 ClinVar
2g.178531898T>CCA1985375TTN,TTN-AS1c.97013A>G (p.Asp32338Gly)
c.78098A>G (p.Asp26033Gly)
c.77897A>G (p.Asp25966Gly)
c.77522A>G (p.Asp25841Gly)
c.104717A>G (p.Asp34906Gly)
c.99794A>G (p.Asp33265Gly)
n.446+8262T>C
n.220-3834T>C
c.103814A>G (p.Asp34605Gly)
c.77708A>G (p.Asp25903Gly)
c.77567A>G (p.Asp25856Gly)
c.103610A>G (p.Asp34537Gly)
c.99008A>G (p.Asp33003Gly)
c.99005A>G (p.Asp33002Gly)
c.96047A>G (p.Asp32016Gly)
c.77663A>G (p.Asp25888Gly)
c.99158A>G (p.Asp33053Gly)
c.99155A>G (p.Asp33052Gly)
c.98588A>G (p.Asp32863Gly)
c.95930A>G (p.Asp31977Gly)
c.95849A>G (p.Asp31950Gly)
c.77612A>G (p.Asp25871Gly)
c.67466A>G (p.Asp22489Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531898T>GCA1985374TTN,TTN-AS1c.97013A>C (p.Asp32338Ala)
c.78098A>C (p.Asp26033Ala)
c.77897A>C (p.Asp25966Ala)
c.77522A>C (p.Asp25841Ala)
c.104717A>C (p.Asp34906Ala)
c.99794A>C (p.Asp33265Ala)
n.446+8262T>G
n.220-3834T>G
c.103814A>C (p.Asp34605Ala)
c.77708A>C (p.Asp25903Ala)
c.77567A>C (p.Asp25856Ala)
c.103610A>C (p.Asp34537Ala)
c.99008A>C (p.Asp33003Ala)
c.99005A>C (p.Asp33002Ala)
c.96047A>C (p.Asp32016Ala)
c.77663A>C (p.Asp25888Ala)
c.99158A>C (p.Asp33053Ala)
c.99155A>C (p.Asp33052Ala)
c.98588A>C (p.Asp32863Ala)
c.95930A>C (p.Asp31977Ala)
c.95849A>C (p.Asp31950Ala)
c.77612A>C (p.Asp25871Ala)
c.67466A>C (p.Asp22489Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531898T=CA1310517977TTN,TTN-AS1c.97013A= (p.Asp32338=)
c.78098A= (p.Asp26033=)
c.77897A= (p.Asp25966=)
c.77522A= (p.Asp25841=)
c.104717A= (p.Asp34906=)
c.99794A= (p.Asp33265=)
n.446+8262T=
n.220-3834T=
c.103814A= (p.Asp34605=)
c.77708A= (p.Asp25903=)
c.77567A= (p.Asp25856=)
c.103610A= (p.Asp34537=)
c.99008A= (p.Asp33003=)
c.99005A= (p.Asp33002=)
c.96047A= (p.Asp32016=)
c.77663A= (p.Asp25888=)
c.99158A= (p.Asp33053=)
c.99155A= (p.Asp33052=)
c.98588A= (p.Asp32863=)
c.95930A= (p.Asp31977=)
c.95849A= (p.Asp31950=)
c.77612A= (p.Asp25871=)
c.67466A= (p.Asp22489=)
2g.178531899C>ACA349411081TTN,TTN-AS1c.97012G>T (p.Asp32338Tyr)
c.78097G>T (p.Asp26033Tyr)
c.77896G>T (p.Asp25966Tyr)
c.77521G>T (p.Asp25841Tyr)
c.104716G>T (p.Asp34906Tyr)
c.99793G>T (p.Asp33265Tyr)
n.446+8263C>A
n.220-3833C>A
c.103813G>T (p.Asp34605Tyr)
c.77707G>T (p.Asp25903Tyr)
c.77566G>T (p.Asp25856Tyr)
c.103609G>T (p.Asp34537Tyr)
c.99007G>T (p.Asp33003Tyr)
c.99004G>T (p.Asp33002Tyr)
c.96046G>T (p.Asp32016Tyr)
c.77662G>T (p.Asp25888Tyr)
c.99157G>T (p.Asp33053Tyr)
c.99154G>T (p.Asp33052Tyr)
c.98587G>T (p.Asp32863Tyr)
c.95929G>T (p.Asp31977Tyr)
c.95848G>T (p.Asp31950Tyr)
c.77611G>T (p.Asp25871Tyr)
c.67465G>T (p.Asp22489Tyr)
2g.178531899C=CA1310517978TTN,TTN-AS1c.97012G= (p.Asp32338=)
c.78097G= (p.Asp26033=)
c.77896G= (p.Asp25966=)
c.77521G= (p.Asp25841=)
c.104716G= (p.Asp34906=)
c.99793G= (p.Asp33265=)
n.446+8263C=
n.220-3833C=
c.103813G= (p.Asp34605=)
c.77707G= (p.Asp25903=)
c.77566G= (p.Asp25856=)
c.103609G= (p.Asp34537=)
c.99007G= (p.Asp33003=)
c.99004G= (p.Asp33002=)
c.96046G= (p.Asp32016=)
c.77662G= (p.Asp25888=)
c.99157G= (p.Asp33053=)
c.99154G= (p.Asp33052=)
c.98587G= (p.Asp32863=)
c.95929G= (p.Asp31977=)
c.95848G= (p.Asp31950=)
c.77611G= (p.Asp25871=)
c.67465G= (p.Asp22489=)
2g.178531899C>GCA349411082TTN,TTN-AS1c.97012G>C (p.Asp32338His)
c.78097G>C (p.Asp26033His)
c.77896G>C (p.Asp25966His)
c.77521G>C (p.Asp25841His)
c.104716G>C (p.Asp34906His)
c.99793G>C (p.Asp33265His)
n.446+8263C>G
n.220-3833C>G
c.103813G>C (p.Asp34605His)
c.77707G>C (p.Asp25903His)
c.77566G>C (p.Asp25856His)
c.103609G>C (p.Asp34537His)
c.99007G>C (p.Asp33003His)
c.99004G>C (p.Asp33002His)
c.96046G>C (p.Asp32016His)
c.77662G>C (p.Asp25888His)
c.99157G>C (p.Asp33053His)
c.99154G>C (p.Asp33052His)
c.98587G>C (p.Asp32863His)
c.95929G>C (p.Asp31977His)
c.95848G>C (p.Asp31950His)
c.77611G>C (p.Asp25871His)
c.67465G>C (p.Asp22489His)
 dbSNP gnomAD v4
2g.178531899C>TCA349411083TTN,TTN-AS1c.97012G>A (p.Asp32338Asn)
c.78097G>A (p.Asp26033Asn)
c.77896G>A (p.Asp25966Asn)
c.77521G>A (p.Asp25841Asn)
c.104716G>A (p.Asp34906Asn)
c.99793G>A (p.Asp33265Asn)
n.446+8263C>T
n.220-3833C>T
c.103813G>A (p.Asp34605Asn)
c.77707G>A (p.Asp25903Asn)
c.77566G>A (p.Asp25856Asn)
c.103609G>A (p.Asp34537Asn)
c.99007G>A (p.Asp33003Asn)
c.99004G>A (p.Asp33002Asn)
c.96046G>A (p.Asp32016Asn)
c.77662G>A (p.Asp25888Asn)
c.99157G>A (p.Asp33053Asn)
c.99154G>A (p.Asp33052Asn)
c.98587G>A (p.Asp32863Asn)
c.95929G>A (p.Asp31977Asn)
c.95848G>A (p.Asp31950Asn)
c.77611G>A (p.Asp25871Asn)
c.67465G>A (p.Asp22489Asn)
2g.178531900A>CCA349411084TTN,TTN-AS1c.97011T>G (p.Phe32337Leu)
c.78096T>G (p.Phe26032Leu)
c.77895T>G (p.Phe25965Leu)
c.77520T>G (p.Phe25840Leu)
c.104715T>G (p.Phe34905Leu)
c.99792T>G (p.Phe33264Leu)
n.446+8264A>C
n.220-3832A>C
c.103812T>G (p.Phe34604Leu)
c.77706T>G (p.Phe25902Leu)
c.77565T>G (p.Phe25855Leu)
c.103608T>G (p.Phe34536Leu)
c.99006T>G (p.Phe33002Leu)
c.99003T>G (p.Phe33001Leu)
c.96045T>G (p.Phe32015Leu)
c.77661T>G (p.Phe25887Leu)
c.99156T>G (p.Phe33052Leu)
c.99153T>G (p.Phe33051Leu)
c.98586T>G (p.Phe32862Leu)
c.95928T>G (p.Phe31976Leu)
c.95847T>G (p.Phe31949Leu)
c.77610T>G (p.Phe25870Leu)
c.67464T>G (p.Phe22488Leu)
2g.178531900A>GCA430235566TTN,TTN-AS1c.97011T>C (p.Phe32337=)
c.78096T>C (p.Phe26032=)
c.77895T>C (p.Phe25965=)
c.77520T>C (p.Phe25840=)
c.104715T>C (p.Phe34905=)
c.99792T>C (p.Phe33264=)
n.446+8264A>G
n.220-3832A>G
c.103812T>C (p.Phe34604=)
c.77706T>C (p.Phe25902=)
c.77565T>C (p.Phe25855=)
c.103608T>C (p.Phe34536=)
c.99006T>C (p.Phe33002=)
c.99003T>C (p.Phe33001=)
c.96045T>C (p.Phe32015=)
c.77661T>C (p.Phe25887=)
c.99156T>C (p.Phe33052=)
c.99153T>C (p.Phe33051=)
c.98586T>C (p.Phe32862=)
c.95928T>C (p.Phe31976=)
c.95847T>C (p.Phe31949=)
c.77610T>C (p.Phe25870=)
c.67464T>C (p.Phe22488=)
2g.178531900A>TCA349411085TTN,TTN-AS1c.97011T>A (p.Phe32337Leu)
c.78096T>A (p.Phe26032Leu)
c.77895T>A (p.Phe25965Leu)
c.77520T>A (p.Phe25840Leu)
c.104715T>A (p.Phe34905Leu)
c.99792T>A (p.Phe33264Leu)
n.446+8264A>T
n.220-3832A>T
c.103812T>A (p.Phe34604Leu)
c.77706T>A (p.Phe25902Leu)
c.77565T>A (p.Phe25855Leu)
c.103608T>A (p.Phe34536Leu)
c.99006T>A (p.Phe33002Leu)
c.99003T>A (p.Phe33001Leu)
c.96045T>A (p.Phe32015Leu)
c.77661T>A (p.Phe25887Leu)
c.99156T>A (p.Phe33052Leu)
c.99153T>A (p.Phe33051Leu)
c.98586T>A (p.Phe32862Leu)
c.95928T>A (p.Phe31976Leu)
c.95847T>A (p.Phe31949Leu)
c.77610T>A (p.Phe25870Leu)
c.67464T>A (p.Phe22488Leu)
2g.178531900_178531901delinsCCA2499215275TTN,TTN-AS1c.97010_97011delinsG (p.Phe32337TrpfsTer10)
c.78095_78096delinsG (p.Phe26032TrpfsTer10)
c.77894_77895delinsG (p.Phe25965TrpfsTer10)
c.77519_77520delinsG (p.Phe25840TrpfsTer10)
c.104714_104715delinsG (p.Phe34905TrpfsTer10)
c.99791_99792delinsG (p.Phe33264TrpfsTer10)
n.446+8264_446+8265delinsC
n.220-3832_220-3831delinsC
c.103811_103812delinsG (p.Phe34604TrpfsTer10)
c.77705_77706delinsG (p.Phe25902TrpfsTer10)
c.77564_77565delinsG (p.Phe25855TrpfsTer10)
c.103607_103608delinsG (p.Phe34536TrpfsTer10)
c.99005_99006delinsG (p.Phe33002TrpfsTer10)
c.99002_99003delinsG (p.Phe33001TrpfsTer10)
c.96044_96045delinsG (p.Phe32015TrpfsTer10)
c.77660_77661delinsG (p.Phe25887TrpfsTer10)
c.99155_99156delinsG (p.Phe33052TrpfsTer10)
c.99152_99153delinsG (p.Phe33051TrpfsTer10)
c.98585_98586delinsG (p.Phe32862TrpfsTer10)
c.95927_95928delinsG (p.Phe31976TrpfsTer10)
c.95846_95847delinsG (p.Phe31949TrpfsTer10)
c.77609_77610delinsG (p.Phe25870TrpfsTer10)
c.67463_67464delinsG (p.Phe22488TrpfsTer10)
 ClinVar dbSNP
2g.178531901A>CCA349411086TTN,TTN-AS1c.97010T>G (p.Phe32337Cys)
c.78095T>G (p.Phe26032Cys)
c.77894T>G (p.Phe25965Cys)
c.77519T>G (p.Phe25840Cys)
c.104714T>G (p.Phe34905Cys)
c.99791T>G (p.Phe33264Cys)
n.446+8265A>C
n.220-3831A>C
c.103811T>G (p.Phe34604Cys)
c.77705T>G (p.Phe25902Cys)
c.77564T>G (p.Phe25855Cys)
c.103607T>G (p.Phe34536Cys)
c.99005T>G (p.Phe33002Cys)
c.99002T>G (p.Phe33001Cys)
c.96044T>G (p.Phe32015Cys)
c.77660T>G (p.Phe25887Cys)
c.99155T>G (p.Phe33052Cys)
c.99152T>G (p.Phe33051Cys)
c.98585T>G (p.Phe32862Cys)
c.95927T>G (p.Phe31976Cys)
c.95846T>G (p.Phe31949Cys)
c.77609T>G (p.Phe25870Cys)
c.67463T>G (p.Phe22488Cys)
 gnomAD v4
2g.178531901A>GCA349411087TTN,TTN-AS1c.97010T>C (p.Phe32337Ser)
c.78095T>C (p.Phe26032Ser)
c.77894T>C (p.Phe25965Ser)
c.77519T>C (p.Phe25840Ser)
c.104714T>C (p.Phe34905Ser)
c.99791T>C (p.Phe33264Ser)
n.446+8265A>G
n.220-3831A>G
c.103811T>C (p.Phe34604Ser)
c.77705T>C (p.Phe25902Ser)
c.77564T>C (p.Phe25855Ser)
c.103607T>C (p.Phe34536Ser)
c.99005T>C (p.Phe33002Ser)
c.99002T>C (p.Phe33001Ser)
c.96044T>C (p.Phe32015Ser)
c.77660T>C (p.Phe25887Ser)
c.99155T>C (p.Phe33052Ser)
c.99152T>C (p.Phe33051Ser)
c.98585T>C (p.Phe32862Ser)
c.95927T>C (p.Phe31976Ser)
c.95846T>C (p.Phe31949Ser)
c.77609T>C (p.Phe25870Ser)
c.67463T>C (p.Phe22488Ser)
2g.178531901A>TCA349411088TTN,TTN-AS1c.97010T>A (p.Phe32337Tyr)
c.78095T>A (p.Phe26032Tyr)
c.77894T>A (p.Phe25965Tyr)
c.77519T>A (p.Phe25840Tyr)
c.104714T>A (p.Phe34905Tyr)
c.99791T>A (p.Phe33264Tyr)
n.446+8265A>T
n.220-3831A>T
c.103811T>A (p.Phe34604Tyr)
c.77705T>A (p.Phe25902Tyr)
c.77564T>A (p.Phe25855Tyr)
c.103607T>A (p.Phe34536Tyr)
c.99005T>A (p.Phe33002Tyr)
c.99002T>A (p.Phe33001Tyr)
c.96044T>A (p.Phe32015Tyr)
c.77660T>A (p.Phe25887Tyr)
c.99155T>A (p.Phe33052Tyr)
c.99152T>A (p.Phe33051Tyr)
c.98585T>A (p.Phe32862Tyr)
c.95927T>A (p.Phe31976Tyr)
c.95846T>A (p.Phe31949Tyr)
c.77609T>A (p.Phe25870Tyr)
c.67463T>A (p.Phe22488Tyr)
2g.178531902A>CCA349411090TTN,TTN-AS1c.97009T>G (p.Phe32337Val)
c.78094T>G (p.Phe26032Val)
c.77893T>G (p.Phe25965Val)
c.77518T>G (p.Phe25840Val)
c.104713T>G (p.Phe34905Val)
c.99790T>G (p.Phe33264Val)
n.446+8266A>C
n.220-3830A>C
c.103810T>G (p.Phe34604Val)
c.77704T>G (p.Phe25902Val)
c.77563T>G (p.Phe25855Val)
c.103606T>G (p.Phe34536Val)
c.99004T>G (p.Phe33002Val)
c.99001T>G (p.Phe33001Val)
c.96043T>G (p.Phe32015Val)
c.77659T>G (p.Phe25887Val)
c.99154T>G (p.Phe33052Val)
c.99151T>G (p.Phe33051Val)
c.98584T>G (p.Phe32862Val)
c.95926T>G (p.Phe31976Val)
c.95845T>G (p.Phe31949Val)
c.77608T>G (p.Phe25870Val)
c.67462T>G (p.Phe22488Val)
2g.178531902A>GCA349411091TTN,TTN-AS1c.97009T>C (p.Phe32337Leu)
c.78094T>C (p.Phe26032Leu)
c.77893T>C (p.Phe25965Leu)
c.77518T>C (p.Phe25840Leu)
c.104713T>C (p.Phe34905Leu)
c.99790T>C (p.Phe33264Leu)
n.446+8266A>G
n.220-3830A>G
c.103810T>C (p.Phe34604Leu)
c.77704T>C (p.Phe25902Leu)
c.77563T>C (p.Phe25855Leu)
c.103606T>C (p.Phe34536Leu)
c.99004T>C (p.Phe33002Leu)
c.99001T>C (p.Phe33001Leu)
c.96043T>C (p.Phe32015Leu)
c.77659T>C (p.Phe25887Leu)
c.99154T>C (p.Phe33052Leu)
c.99151T>C (p.Phe33051Leu)
c.98584T>C (p.Phe32862Leu)
c.95926T>C (p.Phe31976Leu)
c.95845T>C (p.Phe31949Leu)
c.77608T>C (p.Phe25870Leu)
c.67462T>C (p.Phe22488Leu)
 ClinVar dbSNP
2g.178531902A>TCA349411089TTN,TTN-AS1c.97009T>A (p.Phe32337Ile)
c.78094T>A (p.Phe26032Ile)
c.77893T>A (p.Phe25965Ile)
c.77518T>A (p.Phe25840Ile)
c.104713T>A (p.Phe34905Ile)
c.99790T>A (p.Phe33264Ile)
n.446+8266A>T
n.220-3830A>T
c.103810T>A (p.Phe34604Ile)
c.77704T>A (p.Phe25902Ile)
c.77563T>A (p.Phe25855Ile)
c.103606T>A (p.Phe34536Ile)
c.99004T>A (p.Phe33002Ile)
c.99001T>A (p.Phe33001Ile)
c.96043T>A (p.Phe32015Ile)
c.77659T>A (p.Phe25887Ile)
c.99154T>A (p.Phe33052Ile)
c.99151T>A (p.Phe33051Ile)
c.98584T>A (p.Phe32862Ile)
c.95926T>A (p.Phe31976Ile)
c.95845T>A (p.Phe31949Ile)
c.77608T>A (p.Phe25870Ile)
c.67462T>A (p.Phe22488Ile)
2g.178531903T>ACA349411092TTN,TTN-AS1c.97008A>T (p.Arg32336Ser)
c.78093A>T (p.Arg26031Ser)
c.77892A>T (p.Arg25964Ser)
c.77517A>T (p.Arg25839Ser)
c.104712A>T (p.Arg34904Ser)
c.99789A>T (p.Arg33263Ser)
n.446+8267T>A
n.220-3829T>A
c.103809A>T (p.Arg34603Ser)
c.77703A>T (p.Arg25901Ser)
c.77562A>T (p.Arg25854Ser)
c.103605A>T (p.Arg34535Ser)
c.99003A>T (p.Arg33001Ser)
c.99000A>T (p.Arg33000Ser)
c.96042A>T (p.Arg32014Ser)
c.77658A>T (p.Arg25886Ser)
c.99153A>T (p.Arg33051Ser)
c.99150A>T (p.Arg33050Ser)
c.98583A>T (p.Arg32861Ser)
c.95925A>T (p.Arg31975Ser)
c.95844A>T (p.Arg31948Ser)
c.77607A>T (p.Arg25869Ser)
c.67461A>T (p.Arg22487Ser)
 ClinVar
2g.178531903T>CCA430235575TTN,TTN-AS1c.97008A>G (p.Arg32336=)
c.78093A>G (p.Arg26031=)
c.77892A>G (p.Arg25964=)
c.77517A>G (p.Arg25839=)
c.104712A>G (p.Arg34904=)
c.99789A>G (p.Arg33263=)
n.446+8267T>C
n.220-3829T>C
c.103809A>G (p.Arg34603=)
c.77703A>G (p.Arg25901=)
c.77562A>G (p.Arg25854=)
c.103605A>G (p.Arg34535=)
c.99003A>G (p.Arg33001=)
c.99000A>G (p.Arg33000=)
c.96042A>G (p.Arg32014=)
c.77658A>G (p.Arg25886=)
c.99153A>G (p.Arg33051=)
c.99150A>G (p.Arg33050=)
c.98583A>G (p.Arg32861=)
c.95925A>G (p.Arg31975=)
c.95844A>G (p.Arg31948=)
c.77607A>G (p.Arg25869=)
c.67461A>G (p.Arg22487=)
2g.178531903T>GCA349411093TTN,TTN-AS1c.97008A>C (p.Arg32336Ser)
c.78093A>C (p.Arg26031Ser)
c.77892A>C (p.Arg25964Ser)
c.77517A>C (p.Arg25839Ser)
c.104712A>C (p.Arg34904Ser)
c.99789A>C (p.Arg33263Ser)
n.446+8267T>G
n.220-3829T>G
c.103809A>C (p.Arg34603Ser)
c.77703A>C (p.Arg25901Ser)
c.77562A>C (p.Arg25854Ser)
c.103605A>C (p.Arg34535Ser)
c.99003A>C (p.Arg33001Ser)
c.99000A>C (p.Arg33000Ser)
c.96042A>C (p.Arg32014Ser)
c.77658A>C (p.Arg25886Ser)
c.99153A>C (p.Arg33051Ser)
c.99150A>C (p.Arg33050Ser)
c.98583A>C (p.Arg32861Ser)
c.95925A>C (p.Arg31975Ser)
c.95844A>C (p.Arg31948Ser)
c.77607A>C (p.Arg25869Ser)
c.67461A>C (p.Arg22487Ser)
2g.178531904C>ACA349411094TTN,TTN-AS1c.97007G>T (p.Arg32336Ile)
c.78092G>T (p.Arg26031Ile)
c.77891G>T (p.Arg25964Ile)
c.77516G>T (p.Arg25839Ile)
c.104711G>T (p.Arg34904Ile)
c.99788G>T (p.Arg33263Ile)
n.446+8268C>A
n.220-3828C>A
c.103808G>T (p.Arg34603Ile)
c.77702G>T (p.Arg25901Ile)
c.77561G>T (p.Arg25854Ile)
c.103604G>T (p.Arg34535Ile)
c.99002G>T (p.Arg33001Ile)
c.98999G>T (p.Arg33000Ile)
c.96041G>T (p.Arg32014Ile)
c.77657G>T (p.Arg25886Ile)
c.99152G>T (p.Arg33051Ile)
c.99149G>T (p.Arg33050Ile)
c.98582G>T (p.Arg32861Ile)
c.95924G>T (p.Arg31975Ile)
c.95843G>T (p.Arg31948Ile)
c.77606G>T (p.Arg25869Ile)
c.67460G>T (p.Arg22487Ile)
 ClinVar dbSNP gnomAD v4
2g.178531904C=CA1310517979TTN,TTN-AS1c.97007G= (p.Arg32336=)
c.78092G= (p.Arg26031=)
c.77891G= (p.Arg25964=)
c.77516G= (p.Arg25839=)
c.104711G= (p.Arg34904=)
c.99788G= (p.Arg33263=)
n.446+8268C=
n.220-3828C=
c.103808G= (p.Arg34603=)
c.77702G= (p.Arg25901=)
c.77561G= (p.Arg25854=)
c.103604G= (p.Arg34535=)
c.99002G= (p.Arg33001=)
c.98999G= (p.Arg33000=)
c.96041G= (p.Arg32014=)
c.77657G= (p.Arg25886=)
c.99152G= (p.Arg33051=)
c.99149G= (p.Arg33050=)
c.98582G= (p.Arg32861=)
c.95924G= (p.Arg31975=)
c.95843G= (p.Arg31948=)
c.77606G= (p.Arg25869=)
c.67460G= (p.Arg22487=)
2g.178531904C>GCA349411095TTN,TTN-AS1c.97007G>C (p.Arg32336Thr)
c.78092G>C (p.Arg26031Thr)
c.77891G>C (p.Arg25964Thr)
c.77516G>C (p.Arg25839Thr)
c.104711G>C (p.Arg34904Thr)
c.99788G>C (p.Arg33263Thr)
n.446+8268C>G
n.220-3828C>G
c.103808G>C (p.Arg34603Thr)
c.77702G>C (p.Arg25901Thr)
c.77561G>C (p.Arg25854Thr)
c.103604G>C (p.Arg34535Thr)
c.99002G>C (p.Arg33001Thr)
c.98999G>C (p.Arg33000Thr)
c.96041G>C (p.Arg32014Thr)
c.77657G>C (p.Arg25886Thr)
c.99152G>C (p.Arg33051Thr)
c.99149G>C (p.Arg33050Thr)
c.98582G>C (p.Arg32861Thr)
c.95924G>C (p.Arg31975Thr)
c.95843G>C (p.Arg31948Thr)
c.77606G>C (p.Arg25869Thr)
c.67460G>C (p.Arg22487Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178531904C>TCA1985376TTN,TTN-AS1c.97007G>A (p.Arg32336Lys)
c.78092G>A (p.Arg26031Lys)
c.77891G>A (p.Arg25964Lys)
c.77516G>A (p.Arg25839Lys)
c.104711G>A (p.Arg34904Lys)
c.99788G>A (p.Arg33263Lys)
n.446+8268C>T
n.220-3828C>T
c.103808G>A (p.Arg34603Lys)
c.77702G>A (p.Arg25901Lys)
c.77561G>A (p.Arg25854Lys)
c.103604G>A (p.Arg34535Lys)
c.99002G>A (p.Arg33001Lys)
c.98999G>A (p.Arg33000Lys)
c.96041G>A (p.Arg32014Lys)
c.77657G>A (p.Arg25886Lys)
c.99152G>A (p.Arg33051Lys)
c.99149G>A (p.Arg33050Lys)
c.98582G>A (p.Arg32861Lys)
c.95924G>A (p.Arg31975Lys)
c.95843G>A (p.Arg31948Lys)
c.77606G>A (p.Arg25869Lys)
c.67460G>A (p.Arg22487Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531905T>ACA349411097TTN,TTN-AS1c.97006A>T (p.Arg32336Ter)
c.78091A>T (p.Arg26031Ter)
c.77890A>T (p.Arg25964Ter)
c.77515A>T (p.Arg25839Ter)
c.104710A>T (p.Arg34904Ter)
c.99787A>T (p.Arg33263Ter)
n.446+8269T>A
n.220-3827T>A
c.103807A>T (p.Arg34603Ter)
c.77701A>T (p.Arg25901Ter)
c.77560A>T (p.Arg25854Ter)
c.103603A>T (p.Arg34535Ter)
c.99001A>T (p.Arg33001Ter)
c.98998A>T (p.Arg33000Ter)
c.96040A>T (p.Arg32014Ter)
c.77656A>T (p.Arg25886Ter)
c.99151A>T (p.Arg33051Ter)
c.99148A>T (p.Arg33050Ter)
c.98581A>T (p.Arg32861Ter)
c.95923A>T (p.Arg31975Ter)
c.95842A>T (p.Arg31948Ter)
c.77605A>T (p.Arg25869Ter)
c.67459A>T (p.Arg22487Ter)
2g.178531905T>CCA349411096TTN,TTN-AS1c.97006A>G (p.Arg32336Gly)
c.78091A>G (p.Arg26031Gly)
c.77890A>G (p.Arg25964Gly)
c.77515A>G (p.Arg25839Gly)
c.104710A>G (p.Arg34904Gly)
c.99787A>G (p.Arg33263Gly)
n.446+8269T>C
n.220-3827T>C
c.103807A>G (p.Arg34603Gly)
c.77701A>G (p.Arg25901Gly)
c.77560A>G (p.Arg25854Gly)
c.103603A>G (p.Arg34535Gly)
c.99001A>G (p.Arg33001Gly)
c.98998A>G (p.Arg33000Gly)
c.96040A>G (p.Arg32014Gly)
c.77656A>G (p.Arg25886Gly)
c.99151A>G (p.Arg33051Gly)
c.99148A>G (p.Arg33050Gly)
c.98581A>G (p.Arg32861Gly)
c.95923A>G (p.Arg31975Gly)
c.95842A>G (p.Arg31948Gly)
c.77605A>G (p.Arg25869Gly)
c.67459A>G (p.Arg22487Gly)
 gnomAD v4
2g.178531905T>GCA430235583TTN,TTN-AS1c.97006A>C (p.Arg32336=)
c.78091A>C (p.Arg26031=)
c.77890A>C (p.Arg25964=)
c.77515A>C (p.Arg25839=)
c.104710A>C (p.Arg34904=)
c.99787A>C (p.Arg33263=)
n.446+8269T>G
n.220-3827T>G
c.103807A>C (p.Arg34603=)
c.77701A>C (p.Arg25901=)
c.77560A>C (p.Arg25854=)
c.103603A>C (p.Arg34535=)
c.99001A>C (p.Arg33001=)
c.98998A>C (p.Arg33000=)
c.96040A>C (p.Arg32014=)
c.77656A>C (p.Arg25886=)
c.99151A>C (p.Arg33051=)
c.99148A>C (p.Arg33050=)
c.98581A>C (p.Arg32861=)
c.95923A>C (p.Arg31975=)
c.95842A>C (p.Arg31948=)
c.77605A>C (p.Arg25869=)
c.67459A>C (p.Arg22487=)
2g.178531906T>ACA430235587TTN,TTN-AS1c.97005A>T (p.Ala32335=)
c.78090A>T (p.Ala26030=)
c.77889A>T (p.Ala25963=)
c.77514A>T (p.Ala25838=)
c.104709A>T (p.Ala34903=)
c.99786A>T (p.Ala33262=)
n.446+8270T>A
n.220-3826T>A
c.103806A>T (p.Ala34602=)
c.77700A>T (p.Ala25900=)
c.77559A>T (p.Ala25853=)
c.103602A>T (p.Ala34534=)
c.99000A>T (p.Ala33000=)
c.98997A>T (p.Ala32999=)
c.96039A>T (p.Ala32013=)
c.77655A>T (p.Ala25885=)
c.99150A>T (p.Ala33050=)
c.99147A>T (p.Ala33049=)
c.98580A>T (p.Ala32860=)
c.95922A>T (p.Ala31974=)
c.95841A>T (p.Ala31947=)
c.77604A>T (p.Ala25868=)
c.67458A>T (p.Ala22486=)
2g.178531906T>CCA430235592TTN,TTN-AS1c.97005A>G (p.Ala32335=)
c.78090A>G (p.Ala26030=)
c.77889A>G (p.Ala25963=)
c.77514A>G (p.Ala25838=)
c.104709A>G (p.Ala34903=)
c.99786A>G (p.Ala33262=)
n.446+8270T>C
n.220-3826T>C
c.103806A>G (p.Ala34602=)
c.77700A>G (p.Ala25900=)
c.77559A>G (p.Ala25853=)
c.103602A>G (p.Ala34534=)
c.99000A>G (p.Ala33000=)
c.98997A>G (p.Ala32999=)
c.96039A>G (p.Ala32013=)
c.77655A>G (p.Ala25885=)
c.99150A>G (p.Ala33050=)
c.99147A>G (p.Ala33049=)
c.98580A>G (p.Ala32860=)
c.95922A>G (p.Ala31974=)
c.95841A>G (p.Ala31947=)
c.77604A>G (p.Ala25868=)
c.67458A>G (p.Ala22486=)
 gnomAD v4
2g.178531906T>GCA430235589TTN,TTN-AS1c.97005A>C (p.Ala32335=)
c.78090A>C (p.Ala26030=)
c.77889A>C (p.Ala25963=)
c.77514A>C (p.Ala25838=)
c.104709A>C (p.Ala34903=)
c.99786A>C (p.Ala33262=)
n.446+8270T>G
n.220-3826T>G
c.103806A>C (p.Ala34602=)
c.77700A>C (p.Ala25900=)
c.77559A>C (p.Ala25853=)
c.103602A>C (p.Ala34534=)
c.99000A>C (p.Ala33000=)
c.98997A>C (p.Ala32999=)
c.96039A>C (p.Ala32013=)
c.77655A>C (p.Ala25885=)
c.99150A>C (p.Ala33050=)
c.99147A>C (p.Ala33049=)
c.98580A>C (p.Ala32860=)
c.95922A>C (p.Ala31974=)
c.95841A>C (p.Ala31947=)
c.77604A>C (p.Ala25868=)
c.67458A>C (p.Ala22486=)
2g.178531907G>ACA349411098TTN,TTN-AS1c.97004C>T (p.Ala32335Val)
c.78089C>T (p.Ala26030Val)
c.77888C>T (p.Ala25963Val)
c.77513C>T (p.Ala25838Val)
c.104708C>T (p.Ala34903Val)
c.99785C>T (p.Ala33262Val)
n.446+8271G>A
n.220-3825G>A
c.103805C>T (p.Ala34602Val)
c.77699C>T (p.Ala25900Val)
c.77558C>T (p.Ala25853Val)
c.103601C>T (p.Ala34534Val)
c.98999C>T (p.Ala33000Val)
c.98996C>T (p.Ala32999Val)
c.96038C>T (p.Ala32013Val)
c.77654C>T (p.Ala25885Val)
c.99149C>T (p.Ala33050Val)
c.99146C>T (p.Ala33049Val)
c.98579C>T (p.Ala32860Val)
c.95921C>T (p.Ala31974Val)
c.95840C>T (p.Ala31947Val)
c.77603C>T (p.Ala25868Val)
c.67457C>T (p.Ala22486Val)
 dbSNP
2g.178531907G>CCA1985377TTN,TTN-AS1c.97004C>G (p.Ala32335Gly)
c.78089C>G (p.Ala26030Gly)
c.77888C>G (p.Ala25963Gly)
c.77513C>G (p.Ala25838Gly)
c.104708C>G (p.Ala34903Gly)
c.99785C>G (p.Ala33262Gly)
n.446+8271G>C
n.220-3825G>C
c.103805C>G (p.Ala34602Gly)
c.77699C>G (p.Ala25900Gly)
c.77558C>G (p.Ala25853Gly)
c.103601C>G (p.Ala34534Gly)
c.98999C>G (p.Ala33000Gly)
c.98996C>G (p.Ala32999Gly)
c.96038C>G (p.Ala32013Gly)
c.77654C>G (p.Ala25885Gly)
c.99149C>G (p.Ala33050Gly)
c.99146C>G (p.Ala33049Gly)
c.98579C>G (p.Ala32860Gly)
c.95921C>G (p.Ala31974Gly)
c.95840C>G (p.Ala31947Gly)
c.77603C>G (p.Ala25868Gly)
c.67457C>G (p.Ala22486Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531907G=CA1310517980TTN,TTN-AS1c.97004C= (p.Ala32335=)
c.78089C= (p.Ala26030=)
c.77888C= (p.Ala25963=)
c.77513C= (p.Ala25838=)
c.104708C= (p.Ala34903=)
c.99785C= (p.Ala33262=)
n.446+8271G=
n.220-3825G=
c.103805C= (p.Ala34602=)
c.77699C= (p.Ala25900=)
c.77558C= (p.Ala25853=)
c.103601C= (p.Ala34534=)
c.98999C= (p.Ala33000=)
c.98996C= (p.Ala32999=)
c.96038C= (p.Ala32013=)
c.77654C= (p.Ala25885=)
c.99149C= (p.Ala33050=)
c.99146C= (p.Ala33049=)
c.98579C= (p.Ala32860=)
c.95921C= (p.Ala31974=)
c.95840C= (p.Ala31947=)
c.77603C= (p.Ala25868=)
c.67457C= (p.Ala22486=)
2g.178531907G>TCA349411099TTN,TTN-AS1c.97004C>A (p.Ala32335Glu)
c.78089C>A (p.Ala26030Glu)
c.77888C>A (p.Ala25963Glu)
c.77513C>A (p.Ala25838Glu)
c.104708C>A (p.Ala34903Glu)
c.99785C>A (p.Ala33262Glu)
n.446+8271G>T
n.220-3825G>T
c.103805C>A (p.Ala34602Glu)
c.77699C>A (p.Ala25900Glu)
c.77558C>A (p.Ala25853Glu)
c.103601C>A (p.Ala34534Glu)
c.98999C>A (p.Ala33000Glu)
c.98996C>A (p.Ala32999Glu)
c.96038C>A (p.Ala32013Glu)
c.77654C>A (p.Ala25885Glu)
c.99149C>A (p.Ala33050Glu)
c.99146C>A (p.Ala33049Glu)
c.98579C>A (p.Ala32860Glu)
c.95921C>A (p.Ala31974Glu)
c.95840C>A (p.Ala31947Glu)
c.77603C>A (p.Ala25868Glu)
c.67457C>A (p.Ala22486Glu)
 gnomAD v4
2g.178531908C>ACA349411100TTN,TTN-AS1c.97003G>T (p.Ala32335Ser)
c.78088G>T (p.Ala26030Ser)
c.77887G>T (p.Ala25963Ser)
c.77512G>T (p.Ala25838Ser)
c.104707G>T (p.Ala34903Ser)
c.99784G>T (p.Ala33262Ser)
n.446+8272C>A
n.220-3824C>A
c.103804G>T (p.Ala34602Ser)
c.77698G>T (p.Ala25900Ser)
c.77557G>T (p.Ala25853Ser)
c.103600G>T (p.Ala34534Ser)
c.98998G>T (p.Ala33000Ser)
c.98995G>T (p.Ala32999Ser)
c.96037G>T (p.Ala32013Ser)
c.77653G>T (p.Ala25885Ser)
c.99148G>T (p.Ala33050Ser)
c.99145G>T (p.Ala33049Ser)
c.98578G>T (p.Ala32860Ser)
c.95920G>T (p.Ala31974Ser)
c.95839G>T (p.Ala31947Ser)
c.77602G>T (p.Ala25868Ser)
c.67456G>T (p.Ala22486Ser)
2g.178531908C=CA1310517981TTN,TTN-AS1c.97003G= (p.Ala32335=)
c.78088G= (p.Ala26030=)
c.77887G= (p.Ala25963=)
c.77512G= (p.Ala25838=)
c.104707G= (p.Ala34903=)
c.99784G= (p.Ala33262=)
n.446+8272C=
n.220-3824C=
c.103804G= (p.Ala34602=)
c.77698G= (p.Ala25900=)
c.77557G= (p.Ala25853=)
c.103600G= (p.Ala34534=)
c.98998G= (p.Ala33000=)
c.98995G= (p.Ala32999=)
c.96037G= (p.Ala32013=)
c.77653G= (p.Ala25885=)
c.99148G= (p.Ala33050=)
c.99145G= (p.Ala33049=)
c.98578G= (p.Ala32860=)
c.95920G= (p.Ala31974=)
c.95839G= (p.Ala31947=)
c.77602G= (p.Ala25868=)
c.67456G= (p.Ala22486=)
2g.178531908C>GCA349411101TTN,TTN-AS1c.97003G>C (p.Ala32335Pro)
c.78088G>C (p.Ala26030Pro)
c.77887G>C (p.Ala25963Pro)
c.77512G>C (p.Ala25838Pro)
c.104707G>C (p.Ala34903Pro)
c.99784G>C (p.Ala33262Pro)
n.446+8272C>G
n.220-3824C>G
c.103804G>C (p.Ala34602Pro)
c.77698G>C (p.Ala25900Pro)
c.77557G>C (p.Ala25853Pro)
c.103600G>C (p.Ala34534Pro)
c.98998G>C (p.Ala33000Pro)
c.98995G>C (p.Ala32999Pro)
c.96037G>C (p.Ala32013Pro)
c.77653G>C (p.Ala25885Pro)
c.99148G>C (p.Ala33050Pro)
c.99145G>C (p.Ala33049Pro)
c.98578G>C (p.Ala32860Pro)
c.95920G>C (p.Ala31974Pro)
c.95839G>C (p.Ala31947Pro)
c.77602G>C (p.Ala25868Pro)
c.67456G>C (p.Ala22486Pro)
2g.178531908C>TCA349411102TTN,TTN-AS1c.97003G>A (p.Ala32335Thr)
c.78088G>A (p.Ala26030Thr)
c.77887G>A (p.Ala25963Thr)
c.77512G>A (p.Ala25838Thr)
c.104707G>A (p.Ala34903Thr)
c.99784G>A (p.Ala33262Thr)
n.446+8272C>T
n.220-3824C>T
c.103804G>A (p.Ala34602Thr)
c.77698G>A (p.Ala25900Thr)
c.77557G>A (p.Ala25853Thr)
c.103600G>A (p.Ala34534Thr)
c.98998G>A (p.Ala33000Thr)
c.98995G>A (p.Ala32999Thr)
c.96037G>A (p.Ala32013Thr)
c.77653G>A (p.Ala25885Thr)
c.99148G>A (p.Ala33050Thr)
c.99145G>A (p.Ala33049Thr)
c.98578G>A (p.Ala32860Thr)
c.95920G>A (p.Ala31974Thr)
c.95839G>A (p.Ala31947Thr)
c.77602G>A (p.Ala25868Thr)
c.67456G>A (p.Ala22486Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531909A>CCA430235599TTN,TTN-AS1c.97002T>G (p.Ser32334=)
c.78087T>G (p.Ser26029=)
c.77886T>G (p.Ser25962=)
c.77511T>G (p.Ser25837=)
c.104706T>G (p.Ser34902=)
c.99783T>G (p.Ser33261=)
n.446+8273A>C
n.220-3823A>C
c.103803T>G (p.Ser34601=)
c.77697T>G (p.Ser25899=)
c.77556T>G (p.Ser25852=)
c.103599T>G (p.Ser34533=)
c.98997T>G (p.Ser32999=)
c.98994T>G (p.Ser32998=)
c.96036T>G (p.Ser32012=)
c.77652T>G (p.Ser25884=)
c.99147T>G (p.Ser33049=)
c.99144T>G (p.Ser33048=)
c.98577T>G (p.Ser32859=)
c.95919T>G (p.Ser31973=)
c.95838T>G (p.Ser31946=)
c.77601T>G (p.Ser25867=)
c.67455T>G (p.Ser22485=)
 ClinVar gnomAD v4
2g.178531909A>GCA430235600TTN,TTN-AS1c.97002T>C (p.Ser32334=)
c.78087T>C (p.Ser26029=)
c.77886T>C (p.Ser25962=)
c.77511T>C (p.Ser25837=)
c.104706T>C (p.Ser34902=)
c.99783T>C (p.Ser33261=)
n.446+8273A>G
n.220-3823A>G
c.103803T>C (p.Ser34601=)
c.77697T>C (p.Ser25899=)
c.77556T>C (p.Ser25852=)
c.103599T>C (p.Ser34533=)
c.98997T>C (p.Ser32999=)
c.98994T>C (p.Ser32998=)
c.96036T>C (p.Ser32012=)
c.77652T>C (p.Ser25884=)
c.99147T>C (p.Ser33049=)
c.99144T>C (p.Ser33048=)
c.98577T>C (p.Ser32859=)
c.95919T>C (p.Ser31973=)
c.95838T>C (p.Ser31946=)
c.77601T>C (p.Ser25867=)
c.67455T>C (p.Ser22485=)
2g.178531909A>TCA430235603TTN,TTN-AS1c.97002T>A (p.Ser32334=)
c.78087T>A (p.Ser26029=)
c.77886T>A (p.Ser25962=)
c.77511T>A (p.Ser25837=)
c.104706T>A (p.Ser34902=)
c.99783T>A (p.Ser33261=)
n.446+8273A>T
n.220-3823A>T
c.103803T>A (p.Ser34601=)
c.77697T>A (p.Ser25899=)
c.77556T>A (p.Ser25852=)
c.103599T>A (p.Ser34533=)
c.98997T>A (p.Ser32999=)
c.98994T>A (p.Ser32998=)
c.96036T>A (p.Ser32012=)
c.77652T>A (p.Ser25884=)
c.99147T>A (p.Ser33049=)
c.99144T>A (p.Ser33048=)
c.98577T>A (p.Ser32859=)
c.95919T>A (p.Ser31973=)
c.95838T>A (p.Ser31946=)
c.77601T>A (p.Ser25867=)
c.67455T>A (p.Ser22485=)
2g.178531910G>ACA349411103TTN,TTN-AS1c.97001C>T (p.Ser32334Phe)
c.78086C>T (p.Ser26029Phe)
c.77885C>T (p.Ser25962Phe)
c.77510C>T (p.Ser25837Phe)
c.104705C>T (p.Ser34902Phe)
c.99782C>T (p.Ser33261Phe)
n.446+8274G>A
n.220-3822G>A
c.103802C>T (p.Ser34601Phe)
c.77696C>T (p.Ser25899Phe)
c.77555C>T (p.Ser25852Phe)
c.103598C>T (p.Ser34533Phe)
c.98996C>T (p.Ser32999Phe)
c.98993C>T (p.Ser32998Phe)
c.96035C>T (p.Ser32012Phe)
c.77651C>T (p.Ser25884Phe)
c.99146C>T (p.Ser33049Phe)
c.99143C>T (p.Ser33048Phe)
c.98576C>T (p.Ser32859Phe)
c.95918C>T (p.Ser31973Phe)
c.95837C>T (p.Ser31946Phe)
c.77600C>T (p.Ser25867Phe)
c.67454C>T (p.Ser22485Phe)
2g.178531910G>CCA349411105TTN,TTN-AS1c.97001C>G (p.Ser32334Cys)
c.78086C>G (p.Ser26029Cys)
c.77885C>G (p.Ser25962Cys)
c.77510C>G (p.Ser25837Cys)
c.104705C>G (p.Ser34902Cys)
c.99782C>G (p.Ser33261Cys)
n.446+8274G>C
n.220-3822G>C
c.103802C>G (p.Ser34601Cys)
c.77696C>G (p.Ser25899Cys)
c.77555C>G (p.Ser25852Cys)
c.103598C>G (p.Ser34533Cys)
c.98996C>G (p.Ser32999Cys)
c.98993C>G (p.Ser32998Cys)
c.96035C>G (p.Ser32012Cys)
c.77651C>G (p.Ser25884Cys)
c.99146C>G (p.Ser33049Cys)
c.99143C>G (p.Ser33048Cys)
c.98576C>G (p.Ser32859Cys)
c.95918C>G (p.Ser31973Cys)
c.95837C>G (p.Ser31946Cys)
c.77600C>G (p.Ser25867Cys)
c.67454C>G (p.Ser22485Cys)
 dbSNP
2g.178531910G=CA1310517982TTN,TTN-AS1c.97001C= (p.Ser32334=)
c.78086C= (p.Ser26029=)
c.77885C= (p.Ser25962=)
c.77510C= (p.Ser25837=)
c.104705C= (p.Ser34902=)
c.99782C= (p.Ser33261=)
n.446+8274G=
n.220-3822G=
c.103802C= (p.Ser34601=)
c.77696C= (p.Ser25899=)
c.77555C= (p.Ser25852=)
c.103598C= (p.Ser34533=)
c.98996C= (p.Ser32999=)
c.98993C= (p.Ser32998=)
c.96035C= (p.Ser32012=)
c.77651C= (p.Ser25884=)
c.99146C= (p.Ser33049=)
c.99143C= (p.Ser33048=)
c.98576C= (p.Ser32859=)
c.95918C= (p.Ser31973=)
c.95837C= (p.Ser31946=)
c.77600C= (p.Ser25867=)
c.67454C= (p.Ser22485=)
2g.178531910G>TCA349411104TTN,TTN-AS1c.97001C>A (p.Ser32334Tyr)
c.78086C>A (p.Ser26029Tyr)
c.77885C>A (p.Ser25962Tyr)
c.77510C>A (p.Ser25837Tyr)
c.104705C>A (p.Ser34902Tyr)
c.99782C>A (p.Ser33261Tyr)
n.446+8274G>T
n.220-3822G>T
c.103802C>A (p.Ser34601Tyr)
c.77696C>A (p.Ser25899Tyr)
c.77555C>A (p.Ser25852Tyr)
c.103598C>A (p.Ser34533Tyr)
c.98996C>A (p.Ser32999Tyr)
c.98993C>A (p.Ser32998Tyr)
c.96035C>A (p.Ser32012Tyr)
c.77651C>A (p.Ser25884Tyr)
c.99146C>A (p.Ser33049Tyr)
c.99143C>A (p.Ser33048Tyr)
c.98576C>A (p.Ser32859Tyr)
c.95918C>A (p.Ser31973Tyr)
c.95837C>A (p.Ser31946Tyr)
c.77600C>A (p.Ser25867Tyr)
c.67454C>A (p.Ser22485Tyr)
2g.178531911A>CCA349411106TTN,TTN-AS1c.97000T>G (p.Ser32334Ala)
c.78085T>G (p.Ser26029Ala)
c.77884T>G (p.Ser25962Ala)
c.77509T>G (p.Ser25837Ala)
c.104704T>G (p.Ser34902Ala)
c.99781T>G (p.Ser33261Ala)
n.446+8275A>C
n.220-3821A>C
c.103801T>G (p.Ser34601Ala)
c.77695T>G (p.Ser25899Ala)
c.77554T>G (p.Ser25852Ala)
c.103597T>G (p.Ser34533Ala)
c.98995T>G (p.Ser32999Ala)
c.98992T>G (p.Ser32998Ala)
c.96034T>G (p.Ser32012Ala)
c.77650T>G (p.Ser25884Ala)
c.99145T>G (p.Ser33049Ala)
c.99142T>G (p.Ser33048Ala)
c.98575T>G (p.Ser32859Ala)
c.95917T>G (p.Ser31973Ala)
c.95836T>G (p.Ser31946Ala)
c.77599T>G (p.Ser25867Ala)
c.67453T>G (p.Ser22485Ala)
2g.178531911A>GCA349411107TTN,TTN-AS1c.97000T>C (p.Ser32334Pro)
c.78085T>C (p.Ser26029Pro)
c.77884T>C (p.Ser25962Pro)
c.77509T>C (p.Ser25837Pro)
c.104704T>C (p.Ser34902Pro)
c.99781T>C (p.Ser33261Pro)
n.446+8275A>G
n.220-3821A>G
c.103801T>C (p.Ser34601Pro)
c.77695T>C (p.Ser25899Pro)
c.77554T>C (p.Ser25852Pro)
c.103597T>C (p.Ser34533Pro)
c.98995T>C (p.Ser32999Pro)
c.98992T>C (p.Ser32998Pro)
c.96034T>C (p.Ser32012Pro)
c.77650T>C (p.Ser25884Pro)
c.99145T>C (p.Ser33049Pro)
c.99142T>C (p.Ser33048Pro)
c.98575T>C (p.Ser32859Pro)
c.95917T>C (p.Ser31973Pro)
c.95836T>C (p.Ser31946Pro)
c.77599T>C (p.Ser25867Pro)
c.67453T>C (p.Ser22485Pro)
2g.178531911A>TCA349411108TTN,TTN-AS1c.97000T>A (p.Ser32334Thr)
c.78085T>A (p.Ser26029Thr)
c.77884T>A (p.Ser25962Thr)
c.77509T>A (p.Ser25837Thr)
c.104704T>A (p.Ser34902Thr)
c.99781T>A (p.Ser33261Thr)
n.446+8275A>T
n.220-3821A>T
c.103801T>A (p.Ser34601Thr)
c.77695T>A (p.Ser25899Thr)
c.77554T>A (p.Ser25852Thr)
c.103597T>A (p.Ser34533Thr)
c.98995T>A (p.Ser32999Thr)
c.98992T>A (p.Ser32998Thr)
c.96034T>A (p.Ser32012Thr)
c.77650T>A (p.Ser25884Thr)
c.99145T>A (p.Ser33049Thr)
c.99142T>A (p.Ser33048Thr)
c.98575T>A (p.Ser32859Thr)
c.95917T>A (p.Ser31973Thr)
c.95836T>A (p.Ser31946Thr)
c.77599T>A (p.Ser25867Thr)
c.67453T>A (p.Ser22485Thr)
2g.178531912C>ACA349411109TTN,TTN-AS1c.96999G>T (p.Arg32333Ser)
c.78084G>T (p.Arg26028Ser)
c.77883G>T (p.Arg25961Ser)
c.77508G>T (p.Arg25836Ser)
c.104703G>T (p.Arg34901Ser)
c.99780G>T (p.Arg33260Ser)
n.446+8276C>A
n.220-3820C>A
c.103800G>T (p.Arg34600Ser)
c.77694G>T (p.Arg25898Ser)
c.77553G>T (p.Arg25851Ser)
c.103596G>T (p.Arg34532Ser)
c.98994G>T (p.Arg32998Ser)
c.98991G>T (p.Arg32997Ser)
c.96033G>T (p.Arg32011Ser)
c.77649G>T (p.Arg25883Ser)
c.99144G>T (p.Arg33048Ser)
c.99141G>T (p.Arg33047Ser)
c.98574G>T (p.Arg32858Ser)
c.95916G>T (p.Arg31972Ser)
c.95835G>T (p.Arg31945Ser)
c.77598G>T (p.Arg25866Ser)
c.67452G>T (p.Arg22484Ser)
 gnomAD v4
2g.178531912C=CA1310517983TTN,TTN-AS1c.96999G= (p.Arg32333=)
c.78084G= (p.Arg26028=)
c.77883G= (p.Arg25961=)
c.77508G= (p.Arg25836=)
c.104703G= (p.Arg34901=)
c.99780G= (p.Arg33260=)
n.446+8276C=
n.220-3820C=
c.103800G= (p.Arg34600=)
c.77694G= (p.Arg25898=)
c.77553G= (p.Arg25851=)
c.103596G= (p.Arg34532=)
c.98994G= (p.Arg32998=)
c.98991G= (p.Arg32997=)
c.96033G= (p.Arg32011=)
c.77649G= (p.Arg25883=)
c.99144G= (p.Arg33048=)
c.99141G= (p.Arg33047=)
c.98574G= (p.Arg32858=)
c.95916G= (p.Arg31972=)
c.95835G= (p.Arg31945=)
c.77598G= (p.Arg25866=)
c.67452G= (p.Arg22484=)
2g.178531912C>GCA349411110TTN,TTN-AS1c.96999G>C (p.Arg32333Ser)
c.78084G>C (p.Arg26028Ser)
c.77883G>C (p.Arg25961Ser)
c.77508G>C (p.Arg25836Ser)
c.104703G>C (p.Arg34901Ser)
c.99780G>C (p.Arg33260Ser)
n.446+8276C>G
n.220-3820C>G
c.103800G>C (p.Arg34600Ser)
c.77694G>C (p.Arg25898Ser)
c.77553G>C (p.Arg25851Ser)
c.103596G>C (p.Arg34532Ser)
c.98994G>C (p.Arg32998Ser)
c.98991G>C (p.Arg32997Ser)
c.96033G>C (p.Arg32011Ser)
c.77649G>C (p.Arg25883Ser)
c.99144G>C (p.Arg33048Ser)
c.99141G>C (p.Arg33047Ser)
c.98574G>C (p.Arg32858Ser)
c.95916G>C (p.Arg31972Ser)
c.95835G>C (p.Arg31945Ser)
c.77598G>C (p.Arg25866Ser)
c.67452G>C (p.Arg22484Ser)
2g.178531912C>TCA430235608TTN,TTN-AS1c.96999G>A (p.Arg32333=)
c.78084G>A (p.Arg26028=)
c.77883G>A (p.Arg25961=)
c.77508G>A (p.Arg25836=)
c.104703G>A (p.Arg34901=)
c.99780G>A (p.Arg33260=)
n.446+8276C>T
n.220-3820C>T
c.103800G>A (p.Arg34600=)
c.77694G>A (p.Arg25898=)
c.77553G>A (p.Arg25851=)
c.103596G>A (p.Arg34532=)
c.98994G>A (p.Arg32998=)
c.98991G>A (p.Arg32997=)
c.96033G>A (p.Arg32011=)
c.77649G>A (p.Arg25883=)
c.99144G>A (p.Arg33048=)
c.99141G>A (p.Arg33047=)
c.98574G>A (p.Arg32858=)
c.95916G>A (p.Arg31972=)
c.95835G>A (p.Arg31945=)
c.77598G>A (p.Arg25866=)
c.67452G>A (p.Arg22484=)
2g.178531913C>ACA349411111TTN,TTN-AS1c.96998G>T (p.Arg32333Met)
c.78083G>T (p.Arg26028Met)
c.77882G>T (p.Arg25961Met)
c.77507G>T (p.Arg25836Met)
c.104702G>T (p.Arg34901Met)
c.99779G>T (p.Arg33260Met)
n.446+8277C>A
n.220-3819C>A
c.103799G>T (p.Arg34600Met)
c.77693G>T (p.Arg25898Met)
c.77552G>T (p.Arg25851Met)
c.103595G>T (p.Arg34532Met)
c.98993G>T (p.Arg32998Met)
c.98990G>T (p.Arg32997Met)
c.96032G>T (p.Arg32011Met)
c.77648G>T (p.Arg25883Met)
c.99143G>T (p.Arg33048Met)
c.99140G>T (p.Arg33047Met)
c.98573G>T (p.Arg32858Met)
c.95915G>T (p.Arg31972Met)
c.95834G>T (p.Arg31945Met)
c.77597G>T (p.Arg25866Met)
c.67451G>T (p.Arg22484Met)
2g.178531913C=CA1310517984TTN,TTN-AS1c.96998G= (p.Arg32333=)
c.78083G= (p.Arg26028=)
c.77882G= (p.Arg25961=)
c.77507G= (p.Arg25836=)
c.104702G= (p.Arg34901=)
c.99779G= (p.Arg33260=)
n.446+8277C=
n.220-3819C=
c.103799G= (p.Arg34600=)
c.77693G= (p.Arg25898=)
c.77552G= (p.Arg25851=)
c.103595G= (p.Arg34532=)
c.98993G= (p.Arg32998=)
c.98990G= (p.Arg32997=)
c.96032G= (p.Arg32011=)
c.77648G= (p.Arg25883=)
c.99143G= (p.Arg33048=)
c.99140G= (p.Arg33047=)
c.98573G= (p.Arg32858=)
c.95915G= (p.Arg31972=)
c.95834G= (p.Arg31945=)
c.77597G= (p.Arg25866=)
c.67451G= (p.Arg22484=)
2g.178531913C>GCA349411112TTN,TTN-AS1c.96998G>C (p.Arg32333Thr)
c.78083G>C (p.Arg26028Thr)
c.77882G>C (p.Arg25961Thr)
c.77507G>C (p.Arg25836Thr)
c.104702G>C (p.Arg34901Thr)
c.99779G>C (p.Arg33260Thr)
n.446+8277C>G
n.220-3819C>G
c.103799G>C (p.Arg34600Thr)
c.77693G>C (p.Arg25898Thr)
c.77552G>C (p.Arg25851Thr)
c.103595G>C (p.Arg34532Thr)
c.98993G>C (p.Arg32998Thr)
c.98990G>C (p.Arg32997Thr)
c.96032G>C (p.Arg32011Thr)
c.77648G>C (p.Arg25883Thr)
c.99143G>C (p.Arg33048Thr)
c.99140G>C (p.Arg33047Thr)
c.98573G>C (p.Arg32858Thr)
c.95915G>C (p.Arg31972Thr)
c.95834G>C (p.Arg31945Thr)
c.77597G>C (p.Arg25866Thr)
c.67451G>C (p.Arg22484Thr)
 gnomAD v4
2g.178531913C>TCA349411113TTN,TTN-AS1c.96998G>A (p.Arg32333Lys)
c.78083G>A (p.Arg26028Lys)
c.77882G>A (p.Arg25961Lys)
c.77507G>A (p.Arg25836Lys)
c.104702G>A (p.Arg34901Lys)
c.99779G>A (p.Arg33260Lys)
n.446+8277C>T
n.220-3819C>T
c.103799G>A (p.Arg34600Lys)
c.77693G>A (p.Arg25898Lys)
c.77552G>A (p.Arg25851Lys)
c.103595G>A (p.Arg34532Lys)
c.98993G>A (p.Arg32998Lys)
c.98990G>A (p.Arg32997Lys)
c.96032G>A (p.Arg32011Lys)
c.77648G>A (p.Arg25883Lys)
c.99143G>A (p.Arg33048Lys)
c.99140G>A (p.Arg33047Lys)
c.98573G>A (p.Arg32858Lys)
c.95915G>A (p.Arg31972Lys)
c.95834G>A (p.Arg31945Lys)
c.77597G>A (p.Arg25866Lys)
c.67451G>A (p.Arg22484Lys)
 ClinVar dbSNP
2g.178531914T>ACA349411114TTN,TTN-AS1c.96997A>T (p.Arg32333Trp)
c.78082A>T (p.Arg26028Trp)
c.77881A>T (p.Arg25961Trp)
c.77506A>T (p.Arg25836Trp)
c.104701A>T (p.Arg34901Trp)
c.99778A>T (p.Arg33260Trp)
n.446+8278T>A
n.220-3818T>A
c.103798A>T (p.Arg34600Trp)
c.77692A>T (p.Arg25898Trp)
c.77551A>T (p.Arg25851Trp)
c.103594A>T (p.Arg34532Trp)
c.98992A>T (p.Arg32998Trp)
c.98989A>T (p.Arg32997Trp)
c.96031A>T (p.Arg32011Trp)
c.77647A>T (p.Arg25883Trp)
c.99142A>T (p.Arg33048Trp)
c.99139A>T (p.Arg33047Trp)
c.98572A>T (p.Arg32858Trp)
c.95914A>T (p.Arg31972Trp)
c.95833A>T (p.Arg31945Trp)
c.77596A>T (p.Arg25866Trp)
c.67450A>T (p.Arg22484Trp)
2g.178531914T>CCA349411115TTN,TTN-AS1c.96997A>G (p.Arg32333Gly)
c.78082A>G (p.Arg26028Gly)
c.77881A>G (p.Arg25961Gly)
c.77506A>G (p.Arg25836Gly)
c.104701A>G (p.Arg34901Gly)
c.99778A>G (p.Arg33260Gly)
n.446+8278T>C
n.220-3818T>C
c.103798A>G (p.Arg34600Gly)
c.77692A>G (p.Arg25898Gly)
c.77551A>G (p.Arg25851Gly)
c.103594A>G (p.Arg34532Gly)
c.98992A>G (p.Arg32998Gly)
c.98989A>G (p.Arg32997Gly)
c.96031A>G (p.Arg32011Gly)
c.77647A>G (p.Arg25883Gly)
c.99142A>G (p.Arg33048Gly)
c.99139A>G (p.Arg33047Gly)
c.98572A>G (p.Arg32858Gly)
c.95914A>G (p.Arg31972Gly)
c.95833A>G (p.Arg31945Gly)
c.77596A>G (p.Arg25866Gly)
c.67450A>G (p.Arg22484Gly)
2g.178531914T>GCA430235613TTN,TTN-AS1c.96997A>C (p.Arg32333=)
c.78082A>C (p.Arg26028=)
c.77881A>C (p.Arg25961=)
c.77506A>C (p.Arg25836=)
c.104701A>C (p.Arg34901=)
c.99778A>C (p.Arg33260=)
n.446+8278T>G
n.220-3818T>G
c.103798A>C (p.Arg34600=)
c.77692A>C (p.Arg25898=)
c.77551A>C (p.Arg25851=)
c.103594A>C (p.Arg34532=)
c.98992A>C (p.Arg32998=)
c.98989A>C (p.Arg32997=)
c.96031A>C (p.Arg32011=)
c.77647A>C (p.Arg25883=)
c.99142A>C (p.Arg33048=)
c.99139A>C (p.Arg33047=)
c.98572A>C (p.Arg32858=)
c.95914A>C (p.Arg31972=)
c.95833A>C (p.Arg31945=)
c.77596A>C (p.Arg25866=)
c.67450A>C (p.Arg22484=)
2g.178531915C>ACA349411116TTN,TTN-AS1c.96996G>T (p.Glu32332Asp)
c.78081G>T (p.Glu26027Asp)
c.77880G>T (p.Glu25960Asp)
c.77505G>T (p.Glu25835Asp)
c.104700G>T (p.Glu34900Asp)
c.99777G>T (p.Glu33259Asp)
n.446+8279C>A
n.220-3817C>A
c.103797G>T (p.Glu34599Asp)
c.77691G>T (p.Glu25897Asp)
c.77550G>T (p.Glu25850Asp)
c.103593G>T (p.Glu34531Asp)
c.98991G>T (p.Glu32997Asp)
c.98988G>T (p.Glu32996Asp)
c.96030G>T (p.Glu32010Asp)
c.77646G>T (p.Glu25882Asp)
c.99141G>T (p.Glu33047Asp)
c.99138G>T (p.Glu33046Asp)
c.98571G>T (p.Glu32857Asp)
c.95913G>T (p.Glu31971Asp)
c.95832G>T (p.Glu31944Asp)
c.77595G>T (p.Glu25865Asp)
c.67449G>T (p.Glu22483Asp)
2g.178531915C>GCA349411117TTN,TTN-AS1c.96996G>C (p.Glu32332Asp)
c.78081G>C (p.Glu26027Asp)
c.77880G>C (p.Glu25960Asp)
c.77505G>C (p.Glu25835Asp)
c.104700G>C (p.Glu34900Asp)
c.99777G>C (p.Glu33259Asp)
n.446+8279C>G
n.220-3817C>G
c.103797G>C (p.Glu34599Asp)
c.77691G>C (p.Glu25897Asp)
c.77550G>C (p.Glu25850Asp)
c.103593G>C (p.Glu34531Asp)
c.98991G>C (p.Glu32997Asp)
c.98988G>C (p.Glu32996Asp)
c.96030G>C (p.Glu32010Asp)
c.77646G>C (p.Glu25882Asp)
c.99141G>C (p.Glu33047Asp)
c.99138G>C (p.Glu33046Asp)
c.98571G>C (p.Glu32857Asp)
c.95913G>C (p.Glu31971Asp)
c.95832G>C (p.Glu31944Asp)
c.77595G>C (p.Glu25865Asp)
c.67449G>C (p.Glu22483Asp)
 gnomAD v4
2g.178531915C>TCA430235617TTN,TTN-AS1c.96996G>A (p.Glu32332=)
c.78081G>A (p.Glu26027=)
c.77880G>A (p.Glu25960=)
c.77505G>A (p.Glu25835=)
c.104700G>A (p.Glu34900=)
c.99777G>A (p.Glu33259=)
n.446+8279C>T
n.220-3817C>T
c.103797G>A (p.Glu34599=)
c.77691G>A (p.Glu25897=)
c.77550G>A (p.Glu25850=)
c.103593G>A (p.Glu34531=)
c.98991G>A (p.Glu32997=)
c.98988G>A (p.Glu32996=)
c.96030G>A (p.Glu32010=)
c.77646G>A (p.Glu25882=)
c.99141G>A (p.Glu33047=)
c.99138G>A (p.Glu33046=)
c.98571G>A (p.Glu32857=)
c.95913G>A (p.Glu31971=)
c.95832G>A (p.Glu31944=)
c.77595G>A (p.Glu25865=)
c.67449G>A (p.Glu22483=)
2g.178531916T>ACA349411120TTN,TTN-AS1c.96995A>T (p.Glu32332Val)
c.78080A>T (p.Glu26027Val)
c.77879A>T (p.Glu25960Val)
c.77504A>T (p.Glu25835Val)
c.104699A>T (p.Glu34900Val)
c.99776A>T (p.Glu33259Val)
n.446+8280T>A
n.220-3816T>A
c.103796A>T (p.Glu34599Val)
c.77690A>T (p.Glu25897Val)
c.77549A>T (p.Glu25850Val)
c.103592A>T (p.Glu34531Val)
c.98990A>T (p.Glu32997Val)
c.98987A>T (p.Glu32996Val)
c.96029A>T (p.Glu32010Val)
c.77645A>T (p.Glu25882Val)
c.99140A>T (p.Glu33047Val)
c.99137A>T (p.Glu33046Val)
c.98570A>T (p.Glu32857Val)
c.95912A>T (p.Glu31971Val)
c.95831A>T (p.Glu31944Val)
c.77594A>T (p.Glu25865Val)
c.67448A>T (p.Glu22483Val)
 ClinVar dbSNP
2g.178531916T>CCA349411119TTN,TTN-AS1c.96995A>G (p.Glu32332Gly)
c.78080A>G (p.Glu26027Gly)
c.77879A>G (p.Glu25960Gly)
c.77504A>G (p.Glu25835Gly)
c.104699A>G (p.Glu34900Gly)
c.99776A>G (p.Glu33259Gly)
n.446+8280T>C
n.220-3816T>C
c.103796A>G (p.Glu34599Gly)
c.77690A>G (p.Glu25897Gly)
c.77549A>G (p.Glu25850Gly)
c.103592A>G (p.Glu34531Gly)
c.98990A>G (p.Glu32997Gly)
c.98987A>G (p.Glu32996Gly)
c.96029A>G (p.Glu32010Gly)
c.77645A>G (p.Glu25882Gly)
c.99140A>G (p.Glu33047Gly)
c.99137A>G (p.Glu33046Gly)
c.98570A>G (p.Glu32857Gly)
c.95912A>G (p.Glu31971Gly)
c.95831A>G (p.Glu31944Gly)
c.77594A>G (p.Glu25865Gly)
c.67448A>G (p.Glu22483Gly)
2g.178531916T>GCA349411118TTN,TTN-AS1c.96995A>C (p.Glu32332Ala)
c.78080A>C (p.Glu26027Ala)
c.77879A>C (p.Glu25960Ala)
c.77504A>C (p.Glu25835Ala)
c.104699A>C (p.Glu34900Ala)
c.99776A>C (p.Glu33259Ala)
n.446+8280T>G
n.220-3816T>G
c.103796A>C (p.Glu34599Ala)
c.77690A>C (p.Glu25897Ala)
c.77549A>C (p.Glu25850Ala)
c.103592A>C (p.Glu34531Ala)
c.98990A>C (p.Glu32997Ala)
c.98987A>C (p.Glu32996Ala)
c.96029A>C (p.Glu32010Ala)
c.77645A>C (p.Glu25882Ala)
c.99140A>C (p.Glu33047Ala)
c.99137A>C (p.Glu33046Ala)
c.98570A>C (p.Glu32857Ala)
c.95912A>C (p.Glu31971Ala)
c.95831A>C (p.Glu31944Ala)
c.77594A>C (p.Glu25865Ala)
c.67448A>C (p.Glu22483Ala)
2g.178531916T=CA1310517985TTN,TTN-AS1c.96995A= (p.Glu32332=)
c.78080A= (p.Glu26027=)
c.77879A= (p.Glu25960=)
c.77504A= (p.Glu25835=)
c.104699A= (p.Glu34900=)
c.99776A= (p.Glu33259=)
n.446+8280T=
n.220-3816T=
c.103796A= (p.Glu34599=)
c.77690A= (p.Glu25897=)
c.77549A= (p.Glu25850=)
c.103592A= (p.Glu34531=)
c.98990A= (p.Glu32997=)
c.98987A= (p.Glu32996=)
c.96029A= (p.Glu32010=)
c.77645A= (p.Glu25882=)
c.99140A= (p.Glu33047=)
c.99137A= (p.Glu33046=)
c.98570A= (p.Glu32857=)
c.95912A= (p.Glu31971=)
c.95831A= (p.Glu31944=)
c.77594A= (p.Glu25865=)
c.67448A= (p.Glu22483=)
2g.178531917C>ACA349411122TTN,TTN-AS1c.96994G>T (p.Glu32332Ter)
c.78079G>T (p.Glu26027Ter)
c.77878G>T (p.Glu25960Ter)
c.77503G>T (p.Glu25835Ter)
c.104698G>T (p.Glu34900Ter)
c.99775G>T (p.Glu33259Ter)
n.446+8281C>A
n.220-3815C>A
c.103795G>T (p.Glu34599Ter)
c.77689G>T (p.Glu25897Ter)
c.77548G>T (p.Glu25850Ter)
c.103591G>T (p.Glu34531Ter)
c.98989G>T (p.Glu32997Ter)
c.98986G>T (p.Glu32996Ter)
c.96028G>T (p.Glu32010Ter)
c.77644G>T (p.Glu25882Ter)
c.99139G>T (p.Glu33047Ter)
c.99136G>T (p.Glu33046Ter)
c.98569G>T (p.Glu32857Ter)
c.95911G>T (p.Glu31971Ter)
c.95830G>T (p.Glu31944Ter)
c.77593G>T (p.Glu25865Ter)
c.67447G>T (p.Glu22483Ter)
 gnomAD v4
2g.178531917C=CA1310517986TTN,TTN-AS1c.96994G= (p.Glu32332=)
c.78079G= (p.Glu26027=)
c.77878G= (p.Glu25960=)
c.77503G= (p.Glu25835=)
c.104698G= (p.Glu34900=)
c.99775G= (p.Glu33259=)
n.446+8281C=
n.220-3815C=
c.103795G= (p.Glu34599=)
c.77689G= (p.Glu25897=)
c.77548G= (p.Glu25850=)
c.103591G= (p.Glu34531=)
c.98989G= (p.Glu32997=)
c.98986G= (p.Glu32996=)
c.96028G= (p.Glu32010=)
c.77644G= (p.Glu25882=)
c.99139G= (p.Glu33047=)
c.99136G= (p.Glu33046=)
c.98569G= (p.Glu32857=)
c.95911G= (p.Glu31971=)
c.95830G= (p.Glu31944=)
c.77593G= (p.Glu25865=)
c.67447G= (p.Glu22483=)
2g.178531917C>GCA349411121TTN,TTN-AS1c.96994G>C (p.Glu32332Gln)
c.78079G>C (p.Glu26027Gln)
c.77878G>C (p.Glu25960Gln)
c.77503G>C (p.Glu25835Gln)
c.104698G>C (p.Glu34900Gln)
c.99775G>C (p.Glu33259Gln)
n.446+8281C>G
n.220-3815C>G
c.103795G>C (p.Glu34599Gln)
c.77689G>C (p.Glu25897Gln)
c.77548G>C (p.Glu25850Gln)
c.103591G>C (p.Glu34531Gln)
c.98989G>C (p.Glu32997Gln)
c.98986G>C (p.Glu32996Gln)
c.96028G>C (p.Glu32010Gln)
c.77644G>C (p.Glu25882Gln)
c.99139G>C (p.Glu33047Gln)
c.99136G>C (p.Glu33046Gln)
c.98569G>C (p.Glu32857Gln)
c.95911G>C (p.Glu31971Gln)
c.95830G>C (p.Glu31944Gln)
c.77593G>C (p.Glu25865Gln)
c.67447G>C (p.Glu22483Gln)
2g.178531917C>TCA349411123TTN,TTN-AS1c.96994G>A (p.Glu32332Lys)
c.78079G>A (p.Glu26027Lys)
c.77878G>A (p.Glu25960Lys)
c.77503G>A (p.Glu25835Lys)
c.104698G>A (p.Glu34900Lys)
c.99775G>A (p.Glu33259Lys)
n.446+8281C>T
n.220-3815C>T
c.103795G>A (p.Glu34599Lys)
c.77689G>A (p.Glu25897Lys)
c.77548G>A (p.Glu25850Lys)
c.103591G>A (p.Glu34531Lys)
c.98989G>A (p.Glu32997Lys)
c.98986G>A (p.Glu32996Lys)
c.96028G>A (p.Glu32010Lys)
c.77644G>A (p.Glu25882Lys)
c.99139G>A (p.Glu33047Lys)
c.99136G>A (p.Glu33046Lys)
c.98569G>A (p.Glu32857Lys)
c.95911G>A (p.Glu31971Lys)
c.95830G>A (p.Glu31944Lys)
c.77593G>A (p.Glu25865Lys)
c.67447G>A (p.Glu22483Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178531918A>CCA349411124TTN,TTN-AS1c.96993T>G (p.Phe32331Leu)
c.78078T>G (p.Phe26026Leu)
c.77877T>G (p.Phe25959Leu)
c.77502T>G (p.Phe25834Leu)
c.104697T>G (p.Phe34899Leu)
c.99774T>G (p.Phe33258Leu)
n.446+8282A>C
n.220-3814A>C
c.103794T>G (p.Phe34598Leu)
c.77688T>G (p.Phe25896Leu)
c.77547T>G (p.Phe25849Leu)
c.103590T>G (p.Phe34530Leu)
c.98988T>G (p.Phe32996Leu)
c.98985T>G (p.Phe32995Leu)
c.96027T>G (p.Phe32009Leu)
c.77643T>G (p.Phe25881Leu)
c.99138T>G (p.Phe33046Leu)
c.99135T>G (p.Phe33045Leu)
c.98568T>G (p.Phe32856Leu)
c.95910T>G (p.Phe31970Leu)
c.95829T>G (p.Phe31943Leu)
c.77592T>G (p.Phe25864Leu)
c.67446T>G (p.Phe22482Leu)
2g.178531918A>GCA430235620TTN,TTN-AS1c.96993T>C (p.Phe32331=)
c.78078T>C (p.Phe26026=)
c.77877T>C (p.Phe25959=)
c.77502T>C (p.Phe25834=)
c.104697T>C (p.Phe34899=)
c.99774T>C (p.Phe33258=)
n.446+8282A>G
n.220-3814A>G
c.103794T>C (p.Phe34598=)
c.77688T>C (p.Phe25896=)
c.77547T>C (p.Phe25849=)
c.103590T>C (p.Phe34530=)
c.98988T>C (p.Phe32996=)
c.98985T>C (p.Phe32995=)
c.96027T>C (p.Phe32009=)
c.77643T>C (p.Phe25881=)
c.99138T>C (p.Phe33046=)
c.99135T>C (p.Phe33045=)
c.98568T>C (p.Phe32856=)
c.95910T>C (p.Phe31970=)
c.95829T>C (p.Phe31943=)
c.77592T>C (p.Phe25864=)
c.67446T>C (p.Phe22482=)
2g.178531918A>TCA349411125TTN,TTN-AS1c.96993T>A (p.Phe32331Leu)
c.78078T>A (p.Phe26026Leu)
c.77877T>A (p.Phe25959Leu)
c.77502T>A (p.Phe25834Leu)
c.104697T>A (p.Phe34899Leu)
c.99774T>A (p.Phe33258Leu)
n.446+8282A>T
n.220-3814A>T
c.103794T>A (p.Phe34598Leu)
c.77688T>A (p.Phe25896Leu)
c.77547T>A (p.Phe25849Leu)
c.103590T>A (p.Phe34530Leu)
c.98988T>A (p.Phe32996Leu)
c.98985T>A (p.Phe32995Leu)
c.96027T>A (p.Phe32009Leu)
c.77643T>A (p.Phe25881Leu)
c.99138T>A (p.Phe33046Leu)
c.99135T>A (p.Phe33045Leu)
c.98568T>A (p.Phe32856Leu)
c.95910T>A (p.Phe31970Leu)
c.95829T>A (p.Phe31943Leu)
c.77592T>A (p.Phe25864Leu)
c.67446T>A (p.Phe22482Leu)
2g.178531919A=CA1310517987TTN,TTN-AS1c.96992T= (p.Phe32331=)
c.78077T= (p.Phe26026=)
c.77876T= (p.Phe25959=)
c.77501T= (p.Phe25834=)
c.104696T= (p.Phe34899=)
c.99773T= (p.Phe33258=)
n.446+8283A=
n.220-3813A=
c.103793T= (p.Phe34598=)
c.77687T= (p.Phe25896=)
c.77546T= (p.Phe25849=)
c.103589T= (p.Phe34530=)
c.98987T= (p.Phe32996=)
c.98984T= (p.Phe32995=)
c.96026T= (p.Phe32009=)
c.77642T= (p.Phe25881=)
c.99137T= (p.Phe33046=)
c.99134T= (p.Phe33045=)
c.98567T= (p.Phe32856=)
c.95909T= (p.Phe31970=)
c.95828T= (p.Phe31943=)
c.77591T= (p.Phe25864=)
c.67445T= (p.Phe22482=)
2g.178531919A>CCA349411126TTN,TTN-AS1c.96992T>G (p.Phe32331Cys)
c.78077T>G (p.Phe26026Cys)
c.77876T>G (p.Phe25959Cys)
c.77501T>G (p.Phe25834Cys)
c.104696T>G (p.Phe34899Cys)
c.99773T>G (p.Phe33258Cys)
n.446+8283A>C
n.220-3813A>C
c.103793T>G (p.Phe34598Cys)
c.77687T>G (p.Phe25896Cys)
c.77546T>G (p.Phe25849Cys)
c.103589T>G (p.Phe34530Cys)
c.98987T>G (p.Phe32996Cys)
c.98984T>G (p.Phe32995Cys)
c.96026T>G (p.Phe32009Cys)
c.77642T>G (p.Phe25881Cys)
c.99137T>G (p.Phe33046Cys)
c.99134T>G (p.Phe33045Cys)
c.98567T>G (p.Phe32856Cys)
c.95909T>G (p.Phe31970Cys)
c.95828T>G (p.Phe31943Cys)
c.77591T>G (p.Phe25864Cys)
c.67445T>G (p.Phe22482Cys)
2g.178531919A>GCA60956018TTN,TTN-AS1c.96992T>C (p.Phe32331Ser)
c.78077T>C (p.Phe26026Ser)
c.77876T>C (p.Phe25959Ser)
c.77501T>C (p.Phe25834Ser)
c.104696T>C (p.Phe34899Ser)
c.99773T>C (p.Phe33258Ser)
n.446+8283A>G
n.220-3813A>G
c.103793T>C (p.Phe34598Ser)
c.77687T>C (p.Phe25896Ser)
c.77546T>C (p.Phe25849Ser)
c.103589T>C (p.Phe34530Ser)
c.98987T>C (p.Phe32996Ser)
c.98984T>C (p.Phe32995Ser)
c.96026T>C (p.Phe32009Ser)
c.77642T>C (p.Phe25881Ser)
c.99137T>C (p.Phe33046Ser)
c.99134T>C (p.Phe33045Ser)
c.98567T>C (p.Phe32856Ser)
c.95909T>C (p.Phe31970Ser)
c.95828T>C (p.Phe31943Ser)
c.77591T>C (p.Phe25864Ser)
c.67445T>C (p.Phe22482Ser)
 dbSNP
2g.178531919A>TCA349411127TTN,TTN-AS1c.96992T>A (p.Phe32331Tyr)
c.78077T>A (p.Phe26026Tyr)
c.77876T>A (p.Phe25959Tyr)
c.77501T>A (p.Phe25834Tyr)
c.104696T>A (p.Phe34899Tyr)
c.99773T>A (p.Phe33258Tyr)
n.446+8283A>T
n.220-3813A>T
c.103793T>A (p.Phe34598Tyr)
c.77687T>A (p.Phe25896Tyr)
c.77546T>A (p.Phe25849Tyr)
c.103589T>A (p.Phe34530Tyr)
c.98987T>A (p.Phe32996Tyr)
c.98984T>A (p.Phe32995Tyr)
c.96026T>A (p.Phe32009Tyr)
c.77642T>A (p.Phe25881Tyr)
c.99137T>A (p.Phe33046Tyr)
c.99134T>A (p.Phe33045Tyr)
c.98567T>A (p.Phe32856Tyr)
c.95909T>A (p.Phe31970Tyr)
c.95828T>A (p.Phe31943Tyr)
c.77591T>A (p.Phe25864Tyr)
c.67445T>A (p.Phe22482Tyr)
 dbSNP
2g.178531920A>CCA349411128TTN,TTN-AS1c.96991T>G (p.Phe32331Val)
c.78076T>G (p.Phe26026Val)
c.77875T>G (p.Phe25959Val)
c.77500T>G (p.Phe25834Val)
c.104695T>G (p.Phe34899Val)
c.99772T>G (p.Phe33258Val)
n.446+8284A>C
n.220-3812A>C
c.103792T>G (p.Phe34598Val)
c.77686T>G (p.Phe25896Val)
c.77545T>G (p.Phe25849Val)
c.103588T>G (p.Phe34530Val)
c.98986T>G (p.Phe32996Val)
c.98983T>G (p.Phe32995Val)
c.96025T>G (p.Phe32009Val)
c.77641T>G (p.Phe25881Val)
c.99136T>G (p.Phe33046Val)
c.99133T>G (p.Phe33045Val)
c.98566T>G (p.Phe32856Val)
c.95908T>G (p.Phe31970Val)
c.95827T>G (p.Phe31943Val)
c.77590T>G (p.Phe25864Val)
c.67444T>G (p.Phe22482Val)
2g.178531920A>GCA349411129TTN,TTN-AS1c.96991T>C (p.Phe32331Leu)
c.78076T>C (p.Phe26026Leu)
c.77875T>C (p.Phe25959Leu)
c.77500T>C (p.Phe25834Leu)
c.104695T>C (p.Phe34899Leu)
c.99772T>C (p.Phe33258Leu)
n.446+8284A>G
n.220-3812A>G
c.103792T>C (p.Phe34598Leu)
c.77686T>C (p.Phe25896Leu)
c.77545T>C (p.Phe25849Leu)
c.103588T>C (p.Phe34530Leu)
c.98986T>C (p.Phe32996Leu)
c.98983T>C (p.Phe32995Leu)
c.96025T>C (p.Phe32009Leu)
c.77641T>C (p.Phe25881Leu)
c.99136T>C (p.Phe33046Leu)
c.99133T>C (p.Phe33045Leu)
c.98566T>C (p.Phe32856Leu)
c.95908T>C (p.Phe31970Leu)
c.95827T>C (p.Phe31943Leu)
c.77590T>C (p.Phe25864Leu)
c.67444T>C (p.Phe22482Leu)
2g.178531920A>TCA349411130TTN,TTN-AS1c.96991T>A (p.Phe32331Ile)
c.78076T>A (p.Phe26026Ile)
c.77875T>A (p.Phe25959Ile)
c.77500T>A (p.Phe25834Ile)
c.104695T>A (p.Phe34899Ile)
c.99772T>A (p.Phe33258Ile)
n.446+8284A>T
n.220-3812A>T
c.103792T>A (p.Phe34598Ile)
c.77686T>A (p.Phe25896Ile)
c.77545T>A (p.Phe25849Ile)
c.103588T>A (p.Phe34530Ile)
c.98986T>A (p.Phe32996Ile)
c.98983T>A (p.Phe32995Ile)
c.96025T>A (p.Phe32009Ile)
c.77641T>A (p.Phe25881Ile)
c.99136T>A (p.Phe33046Ile)
c.99133T>A (p.Phe33045Ile)
c.98566T>A (p.Phe32856Ile)
c.95908T>A (p.Phe31970Ile)
c.95827T>A (p.Phe31943Ile)
c.77590T>A (p.Phe25864Ile)
c.67444T>A (p.Phe22482Ile)
2g.178531921T>ACA349411131TTN,TTN-AS1c.96990A>T (p.Arg32330Ser)
c.78075A>T (p.Arg26025Ser)
c.77874A>T (p.Arg25958Ser)
c.77499A>T (p.Arg25833Ser)
c.104694A>T (p.Arg34898Ser)
c.99771A>T (p.Arg33257Ser)
n.446+8285T>A
n.220-3811T>A
c.103791A>T (p.Arg34597Ser)
c.77685A>T (p.Arg25895Ser)
c.77544A>T (p.Arg25848Ser)
c.103587A>T (p.Arg34529Ser)
c.98985A>T (p.Arg32995Ser)
c.98982A>T (p.Arg32994Ser)
c.96024A>T (p.Arg32008Ser)
c.77640A>T (p.Arg25880Ser)
c.99135A>T (p.Arg33045Ser)
c.99132A>T (p.Arg33044Ser)
c.98565A>T (p.Arg32855Ser)
c.95907A>T (p.Arg31969Ser)
c.95826A>T (p.Arg31942Ser)
c.77589A>T (p.Arg25863Ser)
c.67443A>T (p.Arg22481Ser)
2g.178531921T>CCA430235629TTN,TTN-AS1c.96990A>G (p.Arg32330=)
c.78075A>G (p.Arg26025=)
c.77874A>G (p.Arg25958=)
c.77499A>G (p.Arg25833=)
c.104694A>G (p.Arg34898=)
c.99771A>G (p.Arg33257=)
n.446+8285T>C
n.220-3811T>C
c.103791A>G (p.Arg34597=)
c.77685A>G (p.Arg25895=)
c.77544A>G (p.Arg25848=)
c.103587A>G (p.Arg34529=)
c.98985A>G (p.Arg32995=)
c.98982A>G (p.Arg32994=)
c.96024A>G (p.Arg32008=)
c.77640A>G (p.Arg25880=)
c.99135A>G (p.Arg33045=)
c.99132A>G (p.Arg33044=)
c.98565A>G (p.Arg32855=)
c.95907A>G (p.Arg31969=)
c.95826A>G (p.Arg31942=)
c.77589A>G (p.Arg25863=)
c.67443A>G (p.Arg22481=)
2g.178531921T>GCA1985378TTN,TTN-AS1c.96990A>C (p.Arg32330Ser)
c.78075A>C (p.Arg26025Ser)
c.77874A>C (p.Arg25958Ser)
c.77499A>C (p.Arg25833Ser)
c.104694A>C (p.Arg34898Ser)
c.99771A>C (p.Arg33257Ser)
n.446+8285T>G
n.220-3811T>G
c.103791A>C (p.Arg34597Ser)
c.77685A>C (p.Arg25895Ser)
c.77544A>C (p.Arg25848Ser)
c.103587A>C (p.Arg34529Ser)
c.98985A>C (p.Arg32995Ser)
c.98982A>C (p.Arg32994Ser)
c.96024A>C (p.Arg32008Ser)
c.77640A>C (p.Arg25880Ser)
c.99135A>C (p.Arg33045Ser)
c.99132A>C (p.Arg33044Ser)
c.98565A>C (p.Arg32855Ser)
c.95907A>C (p.Arg31969Ser)
c.95826A>C (p.Arg31942Ser)
c.77589A>C (p.Arg25863Ser)
c.67443A>C (p.Arg22481Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531921T=CA1310517988TTN,TTN-AS1c.96990A= (p.Arg32330=)
c.78075A= (p.Arg26025=)
c.77874A= (p.Arg25958=)
c.77499A= (p.Arg25833=)
c.104694A= (p.Arg34898=)
c.99771A= (p.Arg33257=)
n.446+8285T=
n.220-3811T=
c.103791A= (p.Arg34597=)
c.77685A= (p.Arg25895=)
c.77544A= (p.Arg25848=)
c.103587A= (p.Arg34529=)
c.98985A= (p.Arg32995=)
c.98982A= (p.Arg32994=)
c.96024A= (p.Arg32008=)
c.77640A= (p.Arg25880=)
c.99135A= (p.Arg33045=)
c.99132A= (p.Arg33044=)
c.98565A= (p.Arg32855=)
c.95907A= (p.Arg31969=)
c.95826A= (p.Arg31942=)
c.77589A= (p.Arg25863=)
c.67443A= (p.Arg22481=)
2g.178531922C>ACA349411132TTN,TTN-AS1c.96989G>T (p.Arg32330Ile)
c.78074G>T (p.Arg26025Ile)
c.77873G>T (p.Arg25958Ile)
c.77498G>T (p.Arg25833Ile)
c.104693G>T (p.Arg34898Ile)
c.99770G>T (p.Arg33257Ile)
n.446+8286C>A
n.220-3810C>A
c.103790G>T (p.Arg34597Ile)
c.77684G>T (p.Arg25895Ile)
c.77543G>T (p.Arg25848Ile)
c.103586G>T (p.Arg34529Ile)
c.98984G>T (p.Arg32995Ile)
c.98981G>T (p.Arg32994Ile)
c.96023G>T (p.Arg32008Ile)
c.77639G>T (p.Arg25880Ile)
c.99134G>T (p.Arg33045Ile)
c.99131G>T (p.Arg33044Ile)
c.98564G>T (p.Arg32855Ile)
c.95906G>T (p.Arg31969Ile)
c.95825G>T (p.Arg31942Ile)
c.77588G>T (p.Arg25863Ile)
c.67442G>T (p.Arg22481Ile)
2g.178531922C=CA1310517989TTN,TTN-AS1c.96989G= (p.Arg32330=)
c.78074G= (p.Arg26025=)
c.77873G= (p.Arg25958=)
c.77498G= (p.Arg25833=)
c.104693G= (p.Arg34898=)
c.99770G= (p.Arg33257=)
n.446+8286C=
n.220-3810C=
c.103790G= (p.Arg34597=)
c.77684G= (p.Arg25895=)
c.77543G= (p.Arg25848=)
c.103586G= (p.Arg34529=)
c.98984G= (p.Arg32995=)
c.98981G= (p.Arg32994=)
c.96023G= (p.Arg32008=)
c.77639G= (p.Arg25880=)
c.99134G= (p.Arg33045=)
c.99131G= (p.Arg33044=)
c.98564G= (p.Arg32855=)
c.95906G= (p.Arg31969=)
c.95825G= (p.Arg31942=)
c.77588G= (p.Arg25863=)
c.67442G= (p.Arg22481=)
2g.178531922C>GCA1985379TTN,TTN-AS1c.96989G>C (p.Arg32330Thr)
c.78074G>C (p.Arg26025Thr)
c.77873G>C (p.Arg25958Thr)
c.77498G>C (p.Arg25833Thr)
c.104693G>C (p.Arg34898Thr)
c.99770G>C (p.Arg33257Thr)
n.446+8286C>G
n.220-3810C>G
c.103790G>C (p.Arg34597Thr)
c.77684G>C (p.Arg25895Thr)
c.77543G>C (p.Arg25848Thr)
c.103586G>C (p.Arg34529Thr)
c.98984G>C (p.Arg32995Thr)
c.98981G>C (p.Arg32994Thr)
c.96023G>C (p.Arg32008Thr)
c.77639G>C (p.Arg25880Thr)
c.99134G>C (p.Arg33045Thr)
c.99131G>C (p.Arg33044Thr)
c.98564G>C (p.Arg32855Thr)
c.95906G>C (p.Arg31969Thr)
c.95825G>C (p.Arg31942Thr)
c.77588G>C (p.Arg25863Thr)
c.67442G>C (p.Arg22481Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531922C>TCA349411133TTN,TTN-AS1c.96989G>A (p.Arg32330Lys)
c.78074G>A (p.Arg26025Lys)
c.77873G>A (p.Arg25958Lys)
c.77498G>A (p.Arg25833Lys)
c.104693G>A (p.Arg34898Lys)
c.99770G>A (p.Arg33257Lys)
n.446+8286C>T
n.220-3810C>T
c.103790G>A (p.Arg34597Lys)
c.77684G>A (p.Arg25895Lys)
c.77543G>A (p.Arg25848Lys)
c.103586G>A (p.Arg34529Lys)
c.98984G>A (p.Arg32995Lys)
c.98981G>A (p.Arg32994Lys)
c.96023G>A (p.Arg32008Lys)
c.77639G>A (p.Arg25880Lys)
c.99134G>A (p.Arg33045Lys)
c.99131G>A (p.Arg33044Lys)
c.98564G>A (p.Arg32855Lys)
c.95906G>A (p.Arg31969Lys)
c.95825G>A (p.Arg31942Lys)
c.77588G>A (p.Arg25863Lys)
c.67442G>A (p.Arg22481Lys)
2g.178531923T>ACA349411134TTN,TTN-AS1c.96988A>T (p.Arg32330Ter)
c.78073A>T (p.Arg26025Ter)
c.77872A>T (p.Arg25958Ter)
c.77497A>T (p.Arg25833Ter)
c.104692A>T (p.Arg34898Ter)
c.99769A>T (p.Arg33257Ter)
n.446+8287T>A
n.220-3809T>A
c.103789A>T (p.Arg34597Ter)
c.77683A>T (p.Arg25895Ter)
c.77542A>T (p.Arg25848Ter)
c.103585A>T (p.Arg34529Ter)
c.98983A>T (p.Arg32995Ter)
c.98980A>T (p.Arg32994Ter)
c.96022A>T (p.Arg32008Ter)
c.77638A>T (p.Arg25880Ter)
c.99133A>T (p.Arg33045Ter)
c.99130A>T (p.Arg33044Ter)
c.98563A>T (p.Arg32855Ter)
c.95905A>T (p.Arg31969Ter)
c.95824A>T (p.Arg31942Ter)
c.77587A>T (p.Arg25863Ter)
c.67441A>T (p.Arg22481Ter)
2g.178531923T>CCA349411135TTN,TTN-AS1c.96988A>G (p.Arg32330Gly)
c.78073A>G (p.Arg26025Gly)
c.77872A>G (p.Arg25958Gly)
c.77497A>G (p.Arg25833Gly)
c.104692A>G (p.Arg34898Gly)
c.99769A>G (p.Arg33257Gly)
n.446+8287T>C
n.220-3809T>C
c.103789A>G (p.Arg34597Gly)
c.77683A>G (p.Arg25895Gly)
c.77542A>G (p.Arg25848Gly)
c.103585A>G (p.Arg34529Gly)
c.98983A>G (p.Arg32995Gly)
c.98980A>G (p.Arg32994Gly)
c.96022A>G (p.Arg32008Gly)
c.77638A>G (p.Arg25880Gly)
c.99133A>G (p.Arg33045Gly)
c.99130A>G (p.Arg33044Gly)
c.98563A>G (p.Arg32855Gly)
c.95905A>G (p.Arg31969Gly)
c.95824A>G (p.Arg31942Gly)
c.77587A>G (p.Arg25863Gly)
c.67441A>G (p.Arg22481Gly)
2g.178531923T>GCA430235630TTN,TTN-AS1c.96988A>C (p.Arg32330=)
c.78073A>C (p.Arg26025=)
c.77872A>C (p.Arg25958=)
c.77497A>C (p.Arg25833=)
c.104692A>C (p.Arg34898=)
c.99769A>C (p.Arg33257=)
n.446+8287T>G
n.220-3809T>G
c.103789A>C (p.Arg34597=)
c.77683A>C (p.Arg25895=)
c.77542A>C (p.Arg25848=)
c.103585A>C (p.Arg34529=)
c.98983A>C (p.Arg32995=)
c.98980A>C (p.Arg32994=)
c.96022A>C (p.Arg32008=)
c.77638A>C (p.Arg25880=)
c.99133A>C (p.Arg33045=)
c.99130A>C (p.Arg33044=)
c.98563A>C (p.Arg32855=)
c.95905A>C (p.Arg31969=)
c.95824A>C (p.Arg31942=)
c.77587A>C (p.Arg25863=)
c.67441A>C (p.Arg22481=)
2g.178531924C>ACA430235631TTN,TTN-AS1c.96987G>T (p.Ser32329=)
c.78072G>T (p.Ser26024=)
c.77871G>T (p.Ser25957=)
c.77496G>T (p.Ser25832=)
c.104691G>T (p.Ser34897=)
c.99768G>T (p.Ser33256=)
n.446+8288C>A
n.220-3808C>A
c.103788G>T (p.Ser34596=)
c.77682G>T (p.Ser25894=)
c.77541G>T (p.Ser25847=)
c.103584G>T (p.Ser34528=)
c.98982G>T (p.Ser32994=)
c.98979G>T (p.Ser32993=)
c.96021G>T (p.Ser32007=)
c.77637G>T (p.Ser25879=)
c.99132G>T (p.Ser33044=)
c.99129G>T (p.Ser33043=)
c.98562G>T (p.Ser32854=)
c.95904G>T (p.Ser31968=)
c.95823G>T (p.Ser31941=)
c.77586G>T (p.Ser25862=)
c.67440G>T (p.Ser22480=)
2g.178531924C=CA1310517990TTN,TTN-AS1c.96987G= (p.Ser32329=)
c.78072G= (p.Ser26024=)
c.77871G= (p.Ser25957=)
c.77496G= (p.Ser25832=)
c.104691G= (p.Ser34897=)
c.99768G= (p.Ser33256=)
n.446+8288C=
n.220-3808C=
c.103788G= (p.Ser34596=)
c.77682G= (p.Ser25894=)
c.77541G= (p.Ser25847=)
c.103584G= (p.Ser34528=)
c.98982G= (p.Ser32994=)
c.98979G= (p.Ser32993=)
c.96021G= (p.Ser32007=)
c.77637G= (p.Ser25879=)
c.99132G= (p.Ser33044=)
c.99129G= (p.Ser33043=)
c.98562G= (p.Ser32854=)
c.95904G= (p.Ser31968=)
c.95823G= (p.Ser31941=)
c.77586G= (p.Ser25862=)
c.67440G= (p.Ser22480=)
2g.178531924C>GCA430235632TTN,TTN-AS1c.96987G>C (p.Ser32329=)
c.78072G>C (p.Ser26024=)
c.77871G>C (p.Ser25957=)
c.77496G>C (p.Ser25832=)
c.104691G>C (p.Ser34897=)
c.99768G>C (p.Ser33256=)
n.446+8288C>G
n.220-3808C>G
c.103788G>C (p.Ser34596=)
c.77682G>C (p.Ser25894=)
c.77541G>C (p.Ser25847=)
c.103584G>C (p.Ser34528=)
c.98982G>C (p.Ser32994=)
c.98979G>C (p.Ser32993=)
c.96021G>C (p.Ser32007=)
c.77637G>C (p.Ser25879=)
c.99132G>C (p.Ser33044=)
c.99129G>C (p.Ser33043=)
c.98562G>C (p.Ser32854=)
c.95904G>C (p.Ser31968=)
c.95823G>C (p.Ser31941=)
c.77586G>C (p.Ser25862=)
c.67440G>C (p.Ser22480=)
 gnomAD v4
2g.178531924C>TCA1985380TTN,TTN-AS1c.96987G>A (p.Ser32329=)
c.78072G>A (p.Ser26024=)
c.77871G>A (p.Ser25957=)
c.77496G>A (p.Ser25832=)
c.104691G>A (p.Ser34897=)
c.99768G>A (p.Ser33256=)
n.446+8288C>T
n.220-3808C>T
c.103788G>A (p.Ser34596=)
c.77682G>A (p.Ser25894=)
c.77541G>A (p.Ser25847=)
c.103584G>A (p.Ser34528=)
c.98982G>A (p.Ser32994=)
c.98979G>A (p.Ser32993=)
c.96021G>A (p.Ser32007=)
c.77637G>A (p.Ser25879=)
c.99132G>A (p.Ser33044=)
c.99129G>A (p.Ser33043=)
c.98562G>A (p.Ser32854=)
c.95904G>A (p.Ser31968=)
c.95823G>A (p.Ser31941=)
c.77586G>A (p.Ser25862=)
c.67440G>A (p.Ser22480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531925G>ACA1985381TTN,TTN-AS1c.96986C>T (p.Ser32329Leu)
c.78071C>T (p.Ser26024Leu)
c.77870C>T (p.Ser25957Leu)
c.77495C>T (p.Ser25832Leu)
c.104690C>T (p.Ser34897Leu)
c.99767C>T (p.Ser33256Leu)
n.446+8289G>A
n.220-3807G>A
c.103787C>T (p.Ser34596Leu)
c.77681C>T (p.Ser25894Leu)
c.77540C>T (p.Ser25847Leu)
c.103583C>T (p.Ser34528Leu)
c.98981C>T (p.Ser32994Leu)
c.98978C>T (p.Ser32993Leu)
c.96020C>T (p.Ser32007Leu)
c.77636C>T (p.Ser25879Leu)
c.99131C>T (p.Ser33044Leu)
c.99128C>T (p.Ser33043Leu)
c.98561C>T (p.Ser32854Leu)
c.95903C>T (p.Ser31968Leu)
c.95822C>T (p.Ser31941Leu)
c.77585C>T (p.Ser25862Leu)
c.67439C>T (p.Ser22480Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531925G>CCA349411136TTN,TTN-AS1c.96986C>G (p.Ser32329Trp)
c.78071C>G (p.Ser26024Trp)
c.77870C>G (p.Ser25957Trp)
c.77495C>G (p.Ser25832Trp)
c.104690C>G (p.Ser34897Trp)
c.99767C>G (p.Ser33256Trp)
n.446+8289G>C
n.220-3807G>C
c.103787C>G (p.Ser34596Trp)
c.77681C>G (p.Ser25894Trp)
c.77540C>G (p.Ser25847Trp)
c.103583C>G (p.Ser34528Trp)
c.98981C>G (p.Ser32994Trp)
c.98978C>G (p.Ser32993Trp)
c.96020C>G (p.Ser32007Trp)
c.77636C>G (p.Ser25879Trp)
c.99131C>G (p.Ser33044Trp)
c.99128C>G (p.Ser33043Trp)
c.98561C>G (p.Ser32854Trp)
c.95903C>G (p.Ser31968Trp)
c.95822C>G (p.Ser31941Trp)
c.77585C>G (p.Ser25862Trp)
c.67439C>G (p.Ser22480Trp)
2g.178531925G=CA1310517991TTN,TTN-AS1c.96986C= (p.Ser32329=)
c.78071C= (p.Ser26024=)
c.77870C= (p.Ser25957=)
c.77495C= (p.Ser25832=)
c.104690C= (p.Ser34897=)
c.99767C= (p.Ser33256=)
n.446+8289G=
n.220-3807G=
c.103787C= (p.Ser34596=)
c.77681C= (p.Ser25894=)
c.77540C= (p.Ser25847=)
c.103583C= (p.Ser34528=)
c.98981C= (p.Ser32994=)
c.98978C= (p.Ser32993=)
c.96020C= (p.Ser32007=)
c.77636C= (p.Ser25879=)
c.99131C= (p.Ser33044=)
c.99128C= (p.Ser33043=)
c.98561C= (p.Ser32854=)
c.95903C= (p.Ser31968=)
c.95822C= (p.Ser31941=)
c.77585C= (p.Ser25862=)
c.67439C= (p.Ser22480=)
2g.178531925G>TCA349411137TTN,TTN-AS1c.96986C>A (p.Ser32329Ter)
c.78071C>A (p.Ser26024Ter)
c.77870C>A (p.Ser25957Ter)
c.77495C>A (p.Ser25832Ter)
c.104690C>A (p.Ser34897Ter)
c.99767C>A (p.Ser33256Ter)
n.446+8289G>T
n.220-3807G>T
c.103787C>A (p.Ser34596Ter)
c.77681C>A (p.Ser25894Ter)
c.77540C>A (p.Ser25847Ter)
c.103583C>A (p.Ser34528Ter)
c.98981C>A (p.Ser32994Ter)
c.98978C>A (p.Ser32993Ter)
c.96020C>A (p.Ser32007Ter)
c.77636C>A (p.Ser25879Ter)
c.99131C>A (p.Ser33044Ter)
c.99128C>A (p.Ser33043Ter)
c.98561C>A (p.Ser32854Ter)
c.95903C>A (p.Ser31968Ter)
c.95822C>A (p.Ser31941Ter)
c.77585C>A (p.Ser25862Ter)
c.67439C>A (p.Ser22480Ter)
2g.178531926delCA2586965152TTN,TTN-AS1c.96985del (p.Ser32329ArgfsTer18)
c.78070del (p.Ser26024ArgfsTer18)
c.77869del (p.Ser25957ArgfsTer18)
c.77494del (p.Ser25832ArgfsTer18)
c.104689del (p.Ser34897ArgfsTer18)
c.99766del (p.Ser33256ArgfsTer18)
n.446+8290del
n.220-3806del
c.103786del (p.Ser34596ArgfsTer18)
c.77680del (p.Ser25894ArgfsTer18)
c.77539del (p.Ser25847ArgfsTer18)
c.103582del (p.Ser34528ArgfsTer18)
c.98980del (p.Ser32994ArgfsTer18)
c.98977del (p.Ser32993ArgfsTer18)
c.96019del (p.Ser32007ArgfsTer18)
c.77635del (p.Ser25879ArgfsTer18)
c.99130del (p.Ser33044ArgfsTer18)
c.99127del (p.Ser33043ArgfsTer18)
c.98560del (p.Ser32854ArgfsTer18)
c.95902del (p.Ser31968ArgfsTer18)
c.95821del (p.Ser31941ArgfsTer18)
c.77584del (p.Ser25862ArgfsTer18)
c.67438del (p.Ser22480ArgfsTer18)
 gnomAD v4
2g.178531926A>CCA349411138TTN,TTN-AS1c.96985T>G (p.Ser32329Ala)
c.78070T>G (p.Ser26024Ala)
c.77869T>G (p.Ser25957Ala)
c.77494T>G (p.Ser25832Ala)
c.104689T>G (p.Ser34897Ala)
c.99766T>G (p.Ser33256Ala)
n.446+8290A>C
n.220-3806A>C
c.103786T>G (p.Ser34596Ala)
c.77680T>G (p.Ser25894Ala)
c.77539T>G (p.Ser25847Ala)
c.103582T>G (p.Ser34528Ala)
c.98980T>G (p.Ser32994Ala)
c.98977T>G (p.Ser32993Ala)
c.96019T>G (p.Ser32007Ala)
c.77635T>G (p.Ser25879Ala)
c.99130T>G (p.Ser33044Ala)
c.99127T>G (p.Ser33043Ala)
c.98560T>G (p.Ser32854Ala)
c.95902T>G (p.Ser31968Ala)
c.95821T>G (p.Ser31941Ala)
c.77584T>G (p.Ser25862Ala)
c.67438T>G (p.Ser22480Ala)
2g.178531926A>GCA349411139TTN,TTN-AS1c.96985T>C (p.Ser32329Pro)
c.78070T>C (p.Ser26024Pro)
c.77869T>C (p.Ser25957Pro)
c.77494T>C (p.Ser25832Pro)
c.104689T>C (p.Ser34897Pro)
c.99766T>C (p.Ser33256Pro)
n.446+8290A>G
n.220-3806A>G
c.103786T>C (p.Ser34596Pro)
c.77680T>C (p.Ser25894Pro)
c.77539T>C (p.Ser25847Pro)
c.103582T>C (p.Ser34528Pro)
c.98980T>C (p.Ser32994Pro)
c.98977T>C (p.Ser32993Pro)
c.96019T>C (p.Ser32007Pro)
c.77635T>C (p.Ser25879Pro)
c.99130T>C (p.Ser33044Pro)
c.99127T>C (p.Ser33043Pro)
c.98560T>C (p.Ser32854Pro)
c.95902T>C (p.Ser31968Pro)
c.95821T>C (p.Ser31941Pro)
c.77584T>C (p.Ser25862Pro)
c.67438T>C (p.Ser22480Pro)
 gnomAD v4
2g.178531926A>TCA349411140TTN,TTN-AS1c.96985T>A (p.Ser32329Thr)
c.78070T>A (p.Ser26024Thr)
c.77869T>A (p.Ser25957Thr)
c.77494T>A (p.Ser25832Thr)
c.104689T>A (p.Ser34897Thr)
c.99766T>A (p.Ser33256Thr)
n.446+8290A>T
n.220-3806A>T
c.103786T>A (p.Ser34596Thr)
c.77680T>A (p.Ser25894Thr)
c.77539T>A (p.Ser25847Thr)
c.103582T>A (p.Ser34528Thr)
c.98980T>A (p.Ser32994Thr)
c.98977T>A (p.Ser32993Thr)
c.96019T>A (p.Ser32007Thr)
c.77635T>A (p.Ser25879Thr)
c.99130T>A (p.Ser33044Thr)
c.99127T>A (p.Ser33043Thr)
c.98560T>A (p.Ser32854Thr)
c.95902T>A (p.Ser31968Thr)
c.95821T>A (p.Ser31941Thr)
c.77584T>A (p.Ser25862Thr)
c.67438T>A (p.Ser22480Thr)
2g.178531927G>ACA430235636TTN,TTN-AS1c.96984C>T (p.Leu32328=)
c.78069C>T (p.Leu26023=)
c.77868C>T (p.Leu25956=)
c.77493C>T (p.Leu25831=)
c.104688C>T (p.Leu34896=)
c.99765C>T (p.Leu33255=)
n.446+8291G>A
n.220-3805G>A
c.103785C>T (p.Leu34595=)
c.77679C>T (p.Leu25893=)
c.77538C>T (p.Leu25846=)
c.103581C>T (p.Leu34527=)
c.98979C>T (p.Leu32993=)
c.98976C>T (p.Leu32992=)
c.96018C>T (p.Leu32006=)
c.77634C>T (p.Leu25878=)
c.99129C>T (p.Leu33043=)
c.99126C>T (p.Leu33042=)
c.98559C>T (p.Leu32853=)
c.95901C>T (p.Leu31967=)
c.95820C>T (p.Leu31940=)
c.77583C>T (p.Leu25861=)
c.67437C>T (p.Leu22479=)
2g.178531927G>CCA1985382TTN,TTN-AS1c.96984C>G (p.Leu32328=)
c.78069C>G (p.Leu26023=)
c.77868C>G (p.Leu25956=)
c.77493C>G (p.Leu25831=)
c.104688C>G (p.Leu34896=)
c.99765C>G (p.Leu33255=)
n.446+8291G>C
n.220-3805G>C
c.103785C>G (p.Leu34595=)
c.77679C>G (p.Leu25893=)
c.77538C>G (p.Leu25846=)
c.103581C>G (p.Leu34527=)
c.98979C>G (p.Leu32993=)
c.98976C>G (p.Leu32992=)
c.96018C>G (p.Leu32006=)
c.77634C>G (p.Leu25878=)
c.99129C>G (p.Leu33043=)
c.99126C>G (p.Leu33042=)
c.98559C>G (p.Leu32853=)
c.95901C>G (p.Leu31967=)
c.95820C>G (p.Leu31940=)
c.77583C>G (p.Leu25861=)
c.67437C>G (p.Leu22479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531927G=CA1310517992TTN,TTN-AS1c.96984C= (p.Leu32328=)
c.78069C= (p.Leu26023=)
c.77868C= (p.Leu25956=)
c.77493C= (p.Leu25831=)
c.104688C= (p.Leu34896=)
c.99765C= (p.Leu33255=)
n.446+8291G=
n.220-3805G=
c.103785C= (p.Leu34595=)
c.77679C= (p.Leu25893=)
c.77538C= (p.Leu25846=)
c.103581C= (p.Leu34527=)
c.98979C= (p.Leu32993=)
c.98976C= (p.Leu32992=)
c.96018C= (p.Leu32006=)
c.77634C= (p.Leu25878=)
c.99129C= (p.Leu33043=)
c.99126C= (p.Leu33042=)
c.98559C= (p.Leu32853=)
c.95901C= (p.Leu31967=)
c.95820C= (p.Leu31940=)
c.77583C= (p.Leu25861=)
c.67437C= (p.Leu22479=)
2g.178531927G>TCA430235640TTN,TTN-AS1c.96984C>A (p.Leu32328=)
c.78069C>A (p.Leu26023=)
c.77868C>A (p.Leu25956=)
c.77493C>A (p.Leu25831=)
c.104688C>A (p.Leu34896=)
c.99765C>A (p.Leu33255=)
n.446+8291G>T
n.220-3805G>T
c.103785C>A (p.Leu34595=)
c.77679C>A (p.Leu25893=)
c.77538C>A (p.Leu25846=)
c.103581C>A (p.Leu34527=)
c.98979C>A (p.Leu32993=)
c.98976C>A (p.Leu32992=)
c.96018C>A (p.Leu32006=)
c.77634C>A (p.Leu25878=)
c.99129C>A (p.Leu33043=)
c.99126C>A (p.Leu33042=)
c.98559C>A (p.Leu32853=)
c.95901C>A (p.Leu31967=)
c.95820C>A (p.Leu31940=)
c.77583C>A (p.Leu25861=)
c.67437C>A (p.Leu22479=)
2g.178531928A>CCA349411141TTN,TTN-AS1c.96983T>G (p.Leu32328Arg)
c.78068T>G (p.Leu26023Arg)
c.77867T>G (p.Leu25956Arg)
c.77492T>G (p.Leu25831Arg)
c.104687T>G (p.Leu34896Arg)
c.99764T>G (p.Leu33255Arg)
n.446+8292A>C
n.220-3804A>C
c.103784T>G (p.Leu34595Arg)
c.77678T>G (p.Leu25893Arg)
c.77537T>G (p.Leu25846Arg)
c.103580T>G (p.Leu34527Arg)
c.98978T>G (p.Leu32993Arg)
c.98975T>G (p.Leu32992Arg)
c.96017T>G (p.Leu32006Arg)
c.77633T>G (p.Leu25878Arg)
c.99128T>G (p.Leu33043Arg)
c.99125T>G (p.Leu33042Arg)
c.98558T>G (p.Leu32853Arg)
c.95900T>G (p.Leu31967Arg)
c.95819T>G (p.Leu31940Arg)
c.77582T>G (p.Leu25861Arg)
c.67436T>G (p.Leu22479Arg)
2g.178531928A>GCA349411142TTN,TTN-AS1c.96983T>C (p.Leu32328Pro)
c.78068T>C (p.Leu26023Pro)
c.77867T>C (p.Leu25956Pro)
c.77492T>C (p.Leu25831Pro)
c.104687T>C (p.Leu34896Pro)
c.99764T>C (p.Leu33255Pro)
n.446+8292A>G
n.220-3804A>G
c.103784T>C (p.Leu34595Pro)
c.77678T>C (p.Leu25893Pro)
c.77537T>C (p.Leu25846Pro)
c.103580T>C (p.Leu34527Pro)
c.98978T>C (p.Leu32993Pro)
c.98975T>C (p.Leu32992Pro)
c.96017T>C (p.Leu32006Pro)
c.77633T>C (p.Leu25878Pro)
c.99128T>C (p.Leu33043Pro)
c.99125T>C (p.Leu33042Pro)
c.98558T>C (p.Leu32853Pro)
c.95900T>C (p.Leu31967Pro)
c.95819T>C (p.Leu31940Pro)
c.77582T>C (p.Leu25861Pro)
c.67436T>C (p.Leu22479Pro)
2g.178531928A>TCA349411143TTN,TTN-AS1c.96983T>A (p.Leu32328His)
c.78068T>A (p.Leu26023His)
c.77867T>A (p.Leu25956His)
c.77492T>A (p.Leu25831His)
c.104687T>A (p.Leu34896His)
c.99764T>A (p.Leu33255His)
n.446+8292A>T
n.220-3804A>T
c.103784T>A (p.Leu34595His)
c.77678T>A (p.Leu25893His)
c.77537T>A (p.Leu25846His)
c.103580T>A (p.Leu34527His)
c.98978T>A (p.Leu32993His)
c.98975T>A (p.Leu32992His)
c.96017T>A (p.Leu32006His)
c.77633T>A (p.Leu25878His)
c.99128T>A (p.Leu33043His)
c.99125T>A (p.Leu33042His)
c.98558T>A (p.Leu32853His)
c.95900T>A (p.Leu31967His)
c.95819T>A (p.Leu31940His)
c.77582T>A (p.Leu25861His)
c.67436T>A (p.Leu22479His)
2g.178531929G>ACA349411145TTN,TTN-AS1c.96982C>T (p.Leu32328Phe)
c.78067C>T (p.Leu26023Phe)
c.77866C>T (p.Leu25956Phe)
c.77491C>T (p.Leu25831Phe)
c.104686C>T (p.Leu34896Phe)
c.99763C>T (p.Leu33255Phe)
n.446+8293G>A
n.220-3803G>A
c.103783C>T (p.Leu34595Phe)
c.77677C>T (p.Leu25893Phe)
c.77536C>T (p.Leu25846Phe)
c.103579C>T (p.Leu34527Phe)
c.98977C>T (p.Leu32993Phe)
c.98974C>T (p.Leu32992Phe)
c.96016C>T (p.Leu32006Phe)
c.77632C>T (p.Leu25878Phe)
c.99127C>T (p.Leu33043Phe)
c.99124C>T (p.Leu33042Phe)
c.98557C>T (p.Leu32853Phe)
c.95899C>T (p.Leu31967Phe)
c.95818C>T (p.Leu31940Phe)
c.77581C>T (p.Leu25861Phe)
c.67435C>T (p.Leu22479Phe)
 dbSNP
2g.178531929G>CCA349411146TTN,TTN-AS1c.96982C>G (p.Leu32328Val)
c.78067C>G (p.Leu26023Val)
c.77866C>G (p.Leu25956Val)
c.77491C>G (p.Leu25831Val)
c.104686C>G (p.Leu34896Val)
c.99763C>G (p.Leu33255Val)
n.446+8293G>C
n.220-3803G>C
c.103783C>G (p.Leu34595Val)
c.77677C>G (p.Leu25893Val)
c.77536C>G (p.Leu25846Val)
c.103579C>G (p.Leu34527Val)
c.98977C>G (p.Leu32993Val)
c.98974C>G (p.Leu32992Val)
c.96016C>G (p.Leu32006Val)
c.77632C>G (p.Leu25878Val)
c.99127C>G (p.Leu33043Val)
c.99124C>G (p.Leu33042Val)
c.98557C>G (p.Leu32853Val)
c.95899C>G (p.Leu31967Val)
c.95818C>G (p.Leu31940Val)
c.77581C>G (p.Leu25861Val)
c.67435C>G (p.Leu22479Val)
2g.178531929G>TCA349411144TTN,TTN-AS1c.96982C>A (p.Leu32328Ile)
c.78067C>A (p.Leu26023Ile)
c.77866C>A (p.Leu25956Ile)
c.77491C>A (p.Leu25831Ile)
c.104686C>A (p.Leu34896Ile)
c.99763C>A (p.Leu33255Ile)
n.446+8293G>T
n.220-3803G>T
c.103783C>A (p.Leu34595Ile)
c.77677C>A (p.Leu25893Ile)
c.77536C>A (p.Leu25846Ile)
c.103579C>A (p.Leu34527Ile)
c.98977C>A (p.Leu32993Ile)
c.98974C>A (p.Leu32992Ile)
c.96016C>A (p.Leu32006Ile)
c.77632C>A (p.Leu25878Ile)
c.99127C>A (p.Leu33043Ile)
c.99124C>A (p.Leu33042Ile)
c.98557C>A (p.Leu32853Ile)
c.95899C>A (p.Leu31967Ile)
c.95818C>A (p.Leu31940Ile)
c.77581C>A (p.Leu25861Ile)
c.67435C>A (p.Leu22479Ile)
2g.178531930T>ACA430235649TTN,TTN-AS1c.96981A>T (p.Ser32327=)
c.78066A>T (p.Ser26022=)
c.77865A>T (p.Ser25955=)
c.77490A>T (p.Ser25830=)
c.104685A>T (p.Ser34895=)
c.99762A>T (p.Ser33254=)
n.446+8294T>A
n.220-3802T>A
c.103782A>T (p.Ser34594=)
c.77676A>T (p.Ser25892=)
c.77535A>T (p.Ser25845=)
c.103578A>T (p.Ser34526=)
c.98976A>T (p.Ser32992=)
c.98973A>T (p.Ser32991=)
c.96015A>T (p.Ser32005=)
c.77631A>T (p.Ser25877=)
c.99126A>T (p.Ser33042=)
c.99123A>T (p.Ser33041=)
c.98556A>T (p.Ser32852=)
c.95898A>T (p.Ser31966=)
c.95817A>T (p.Ser31939=)
c.77580A>T (p.Ser25860=)
c.67434A>T (p.Ser22478=)
2g.178531930T>CCA430235650TTN,TTN-AS1c.96981A>G (p.Ser32327=)
c.78066A>G (p.Ser26022=)
c.77865A>G (p.Ser25955=)
c.77490A>G (p.Ser25830=)
c.104685A>G (p.Ser34895=)
c.99762A>G (p.Ser33254=)
n.446+8294T>C
n.220-3802T>C
c.103782A>G (p.Ser34594=)
c.77676A>G (p.Ser25892=)
c.77535A>G (p.Ser25845=)
c.103578A>G (p.Ser34526=)
c.98976A>G (p.Ser32992=)
c.98973A>G (p.Ser32991=)
c.96015A>G (p.Ser32005=)
c.77631A>G (p.Ser25877=)
c.99126A>G (p.Ser33042=)
c.99123A>G (p.Ser33041=)
c.98556A>G (p.Ser32852=)
c.95898A>G (p.Ser31966=)
c.95817A>G (p.Ser31939=)
c.77580A>G (p.Ser25860=)
c.67434A>G (p.Ser22478=)
2g.178531930T>GCA430235651TTN,TTN-AS1c.96981A>C (p.Ser32327=)
c.78066A>C (p.Ser26022=)
c.77865A>C (p.Ser25955=)
c.77490A>C (p.Ser25830=)
c.104685A>C (p.Ser34895=)
c.99762A>C (p.Ser33254=)
n.446+8294T>G
n.220-3802T>G
c.103782A>C (p.Ser34594=)
c.77676A>C (p.Ser25892=)
c.77535A>C (p.Ser25845=)
c.103578A>C (p.Ser34526=)
c.98976A>C (p.Ser32992=)
c.98973A>C (p.Ser32991=)
c.96015A>C (p.Ser32005=)
c.77631A>C (p.Ser25877=)
c.99126A>C (p.Ser33042=)
c.99123A>C (p.Ser33041=)
c.98556A>C (p.Ser32852=)
c.95898A>C (p.Ser31966=)
c.95817A>C (p.Ser31939=)
c.77580A>C (p.Ser25860=)
c.67434A>C (p.Ser22478=)
2g.178531931G>ACA349411147TTN,TTN-AS1c.96980C>T (p.Ser32327Leu)
c.78065C>T (p.Ser26022Leu)
c.77864C>T (p.Ser25955Leu)
c.77489C>T (p.Ser25830Leu)
c.104684C>T (p.Ser34895Leu)
c.99761C>T (p.Ser33254Leu)
n.446+8295G>A
n.220-3801G>A
c.103781C>T (p.Ser34594Leu)
c.77675C>T (p.Ser25892Leu)
c.77534C>T (p.Ser25845Leu)
c.103577C>T (p.Ser34526Leu)
c.98975C>T (p.Ser32992Leu)
c.98972C>T (p.Ser32991Leu)
c.96014C>T (p.Ser32005Leu)
c.77630C>T (p.Ser25877Leu)
c.99125C>T (p.Ser33042Leu)
c.99122C>T (p.Ser33041Leu)
c.98555C>T (p.Ser32852Leu)
c.95897C>T (p.Ser31966Leu)
c.95816C>T (p.Ser31939Leu)
c.77579C>T (p.Ser25860Leu)
c.67433C>T (p.Ser22478Leu)
 dbSNP gnomAD v4
2g.178531931G>CCA349411148TTN,TTN-AS1c.96980C>G (p.Ser32327Ter)
c.78065C>G (p.Ser26022Ter)
c.77864C>G (p.Ser25955Ter)
c.77489C>G (p.Ser25830Ter)
c.104684C>G (p.Ser34895Ter)
c.99761C>G (p.Ser33254Ter)
n.446+8295G>C
n.220-3801G>C
c.103781C>G (p.Ser34594Ter)
c.77675C>G (p.Ser25892Ter)
c.77534C>G (p.Ser25845Ter)
c.103577C>G (p.Ser34526Ter)
c.98975C>G (p.Ser32992Ter)
c.98972C>G (p.Ser32991Ter)
c.96014C>G (p.Ser32005Ter)
c.77630C>G (p.Ser25877Ter)
c.99125C>G (p.Ser33042Ter)
c.99122C>G (p.Ser33041Ter)
c.98555C>G (p.Ser32852Ter)
c.95897C>G (p.Ser31966Ter)
c.95816C>G (p.Ser31939Ter)
c.77579C>G (p.Ser25860Ter)
c.67433C>G (p.Ser22478Ter)
2g.178531931G=CA1310517993TTN,TTN-AS1c.96980C= (p.Ser32327=)
c.78065C= (p.Ser26022=)
c.77864C= (p.Ser25955=)
c.77489C= (p.Ser25830=)
c.104684C= (p.Ser34895=)
c.99761C= (p.Ser33254=)
n.446+8295G=
n.220-3801G=
c.103781C= (p.Ser34594=)
c.77675C= (p.Ser25892=)
c.77534C= (p.Ser25845=)
c.103577C= (p.Ser34526=)
c.98975C= (p.Ser32992=)
c.98972C= (p.Ser32991=)
c.96014C= (p.Ser32005=)
c.77630C= (p.Ser25877=)
c.99125C= (p.Ser33042=)
c.99122C= (p.Ser33041=)
c.98555C= (p.Ser32852=)
c.95897C= (p.Ser31966=)
c.95816C= (p.Ser31939=)
c.77579C= (p.Ser25860=)
c.67433C= (p.Ser22478=)
2g.178531931G>TCA349411149TTN,TTN-AS1c.96980C>A (p.Ser32327Ter)
c.78065C>A (p.Ser26022Ter)
c.77864C>A (p.Ser25955Ter)
c.77489C>A (p.Ser25830Ter)
c.104684C>A (p.Ser34895Ter)
c.99761C>A (p.Ser33254Ter)
n.446+8295G>T
n.220-3801G>T
c.103781C>A (p.Ser34594Ter)
c.77675C>A (p.Ser25892Ter)
c.77534C>A (p.Ser25845Ter)
c.103577C>A (p.Ser34526Ter)
c.98975C>A (p.Ser32992Ter)
c.98972C>A (p.Ser32991Ter)
c.96014C>A (p.Ser32005Ter)
c.77630C>A (p.Ser25877Ter)
c.99125C>A (p.Ser33042Ter)
c.99122C>A (p.Ser33041Ter)
c.98555C>A (p.Ser32852Ter)
c.95897C>A (p.Ser31966Ter)
c.95816C>A (p.Ser31939Ter)
c.77579C>A (p.Ser25860Ter)
c.67433C>A (p.Ser22478Ter)
2g.178531932A=CA1310517994TTN,TTN-AS1c.96979T= (p.Ser32327=)
c.78064T= (p.Ser26022=)
c.77863T= (p.Ser25955=)
c.77488T= (p.Ser25830=)
c.104683T= (p.Ser34895=)
c.99760T= (p.Ser33254=)
n.446+8296A=
n.220-3800A=
c.103780T= (p.Ser34594=)
c.77674T= (p.Ser25892=)
c.77533T= (p.Ser25845=)
c.103576T= (p.Ser34526=)
c.98974T= (p.Ser32992=)
c.98971T= (p.Ser32991=)
c.96013T= (p.Ser32005=)
c.77629T= (p.Ser25877=)
c.99124T= (p.Ser33042=)
c.99121T= (p.Ser33041=)
c.98554T= (p.Ser32852=)
c.95896T= (p.Ser31966=)
c.95815T= (p.Ser31939=)
c.77578T= (p.Ser25860=)
c.67432T= (p.Ser22478=)
2g.178531932A>CCA349411150TTN,TTN-AS1c.96979T>G (p.Ser32327Ala)
c.78064T>G (p.Ser26022Ala)
c.77863T>G (p.Ser25955Ala)
c.77488T>G (p.Ser25830Ala)
c.104683T>G (p.Ser34895Ala)
c.99760T>G (p.Ser33254Ala)
n.446+8296A>C
n.220-3800A>C
c.103780T>G (p.Ser34594Ala)
c.77674T>G (p.Ser25892Ala)
c.77533T>G (p.Ser25845Ala)
c.103576T>G (p.Ser34526Ala)
c.98974T>G (p.Ser32992Ala)
c.98971T>G (p.Ser32991Ala)
c.96013T>G (p.Ser32005Ala)
c.77629T>G (p.Ser25877Ala)
c.99124T>G (p.Ser33042Ala)
c.99121T>G (p.Ser33041Ala)
c.98554T>G (p.Ser32852Ala)
c.95896T>G (p.Ser31966Ala)
c.95815T>G (p.Ser31939Ala)
c.77578T>G (p.Ser25860Ala)
c.67432T>G (p.Ser22478Ala)
2g.178531932A>GCA349411151TTN,TTN-AS1c.96979T>C (p.Ser32327Pro)
c.78064T>C (p.Ser26022Pro)
c.77863T>C (p.Ser25955Pro)
c.77488T>C (p.Ser25830Pro)
c.104683T>C (p.Ser34895Pro)
c.99760T>C (p.Ser33254Pro)
n.446+8296A>G
n.220-3800A>G
c.103780T>C (p.Ser34594Pro)
c.77674T>C (p.Ser25892Pro)
c.77533T>C (p.Ser25845Pro)
c.103576T>C (p.Ser34526Pro)
c.98974T>C (p.Ser32992Pro)
c.98971T>C (p.Ser32991Pro)
c.96013T>C (p.Ser32005Pro)
c.77629T>C (p.Ser25877Pro)
c.99124T>C (p.Ser33042Pro)
c.99121T>C (p.Ser33041Pro)
c.98554T>C (p.Ser32852Pro)
c.95896T>C (p.Ser31966Pro)
c.95815T>C (p.Ser31939Pro)
c.77578T>C (p.Ser25860Pro)
c.67432T>C (p.Ser22478Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531932A>TCA349411152TTN,TTN-AS1c.96979T>A (p.Ser32327Thr)
c.78064T>A (p.Ser26022Thr)
c.77863T>A (p.Ser25955Thr)
c.77488T>A (p.Ser25830Thr)
c.104683T>A (p.Ser34895Thr)
c.99760T>A (p.Ser33254Thr)
n.446+8296A>T
n.220-3800A>T
c.103780T>A (p.Ser34594Thr)
c.77674T>A (p.Ser25892Thr)
c.77533T>A (p.Ser25845Thr)
c.103576T>A (p.Ser34526Thr)
c.98974T>A (p.Ser32992Thr)
c.98971T>A (p.Ser32991Thr)
c.96013T>A (p.Ser32005Thr)
c.77629T>A (p.Ser25877Thr)
c.99124T>A (p.Ser33042Thr)
c.99121T>A (p.Ser33041Thr)
c.98554T>A (p.Ser32852Thr)
c.95896T>A (p.Ser31966Thr)
c.95815T>A (p.Ser31939Thr)
c.77578T>A (p.Ser25860Thr)
c.67432T>A (p.Ser22478Thr)
2g.178531933T>ACA349411153TTN,TTN-AS1c.96978A>T (p.Arg32326Ser)
c.78063A>T (p.Arg26021Ser)
c.77862A>T (p.Arg25954Ser)
c.77487A>T (p.Arg25829Ser)
c.104682A>T (p.Arg34894Ser)
c.99759A>T (p.Arg33253Ser)
n.446+8297T>A
n.220-3799T>A
c.103779A>T (p.Arg34593Ser)
c.77673A>T (p.Arg25891Ser)
c.77532A>T (p.Arg25844Ser)
c.103575A>T (p.Arg34525Ser)
c.98973A>T (p.Arg32991Ser)
c.98970A>T (p.Arg32990Ser)
c.96012A>T (p.Arg32004Ser)
c.77628A>T (p.Arg25876Ser)
c.99123A>T (p.Arg33041Ser)
c.99120A>T (p.Arg33040Ser)
c.98553A>T (p.Arg32851Ser)
c.95895A>T (p.Arg31965Ser)
c.95814A>T (p.Arg31938Ser)
c.77577A>T (p.Arg25859Ser)
c.67431A>T (p.Arg22477Ser)
2g.178531933T>CCA430235658TTN,TTN-AS1c.96978A>G (p.Arg32326=)
c.78063A>G (p.Arg26021=)
c.77862A>G (p.Arg25954=)
c.77487A>G (p.Arg25829=)
c.104682A>G (p.Arg34894=)
c.99759A>G (p.Arg33253=)
n.446+8297T>C
n.220-3799T>C
c.103779A>G (p.Arg34593=)
c.77673A>G (p.Arg25891=)
c.77532A>G (p.Arg25844=)
c.103575A>G (p.Arg34525=)
c.98973A>G (p.Arg32991=)
c.98970A>G (p.Arg32990=)
c.96012A>G (p.Arg32004=)
c.77628A>G (p.Arg25876=)
c.99123A>G (p.Arg33041=)
c.99120A>G (p.Arg33040=)
c.98553A>G (p.Arg32851=)
c.95895A>G (p.Arg31965=)
c.95814A>G (p.Arg31938=)
c.77577A>G (p.Arg25859=)
c.67431A>G (p.Arg22477=)
2g.178531933T>GCA349411154TTN,TTN-AS1c.96978A>C (p.Arg32326Ser)
c.78063A>C (p.Arg26021Ser)
c.77862A>C (p.Arg25954Ser)
c.77487A>C (p.Arg25829Ser)
c.104682A>C (p.Arg34894Ser)
c.99759A>C (p.Arg33253Ser)
n.446+8297T>G
n.220-3799T>G
c.103779A>C (p.Arg34593Ser)
c.77673A>C (p.Arg25891Ser)
c.77532A>C (p.Arg25844Ser)
c.103575A>C (p.Arg34525Ser)
c.98973A>C (p.Arg32991Ser)
c.98970A>C (p.Arg32990Ser)
c.96012A>C (p.Arg32004Ser)
c.77628A>C (p.Arg25876Ser)
c.99123A>C (p.Arg33041Ser)
c.99120A>C (p.Arg33040Ser)
c.98553A>C (p.Arg32851Ser)
c.95895A>C (p.Arg31965Ser)
c.95814A>C (p.Arg31938Ser)
c.77577A>C (p.Arg25859Ser)
c.67431A>C (p.Arg22477Ser)
2g.178531934C>ACA349411155TTN,TTN-AS1c.96977G>T (p.Arg32326Ile)
c.78062G>T (p.Arg26021Ile)
c.77861G>T (p.Arg25954Ile)
c.77486G>T (p.Arg25829Ile)
c.104681G>T (p.Arg34894Ile)
c.99758G>T (p.Arg33253Ile)
n.446+8298C>A
n.220-3798C>A
c.103778G>T (p.Arg34593Ile)
c.77672G>T (p.Arg25891Ile)
c.77531G>T (p.Arg25844Ile)
c.103574G>T (p.Arg34525Ile)
c.98972G>T (p.Arg32991Ile)
c.98969G>T (p.Arg32990Ile)
c.96011G>T (p.Arg32004Ile)
c.77627G>T (p.Arg25876Ile)
c.99122G>T (p.Arg33041Ile)
c.99119G>T (p.Arg33040Ile)
c.98552G>T (p.Arg32851Ile)
c.95894G>T (p.Arg31965Ile)
c.95813G>T (p.Arg31938Ile)
c.77576G>T (p.Arg25859Ile)
c.67430G>T (p.Arg22477Ile)
2g.178531934C>GCA349411156TTN,TTN-AS1c.96977G>C (p.Arg32326Thr)
c.78062G>C (p.Arg26021Thr)
c.77861G>C (p.Arg25954Thr)
c.77486G>C (p.Arg25829Thr)
c.104681G>C (p.Arg34894Thr)
c.99758G>C (p.Arg33253Thr)
n.446+8298C>G
n.220-3798C>G
c.103778G>C (p.Arg34593Thr)
c.77672G>C (p.Arg25891Thr)
c.77531G>C (p.Arg25844Thr)
c.103574G>C (p.Arg34525Thr)
c.98972G>C (p.Arg32991Thr)
c.98969G>C (p.Arg32990Thr)
c.96011G>C (p.Arg32004Thr)
c.77627G>C (p.Arg25876Thr)
c.99122G>C (p.Arg33041Thr)
c.99119G>C (p.Arg33040Thr)
c.98552G>C (p.Arg32851Thr)
c.95894G>C (p.Arg31965Thr)
c.95813G>C (p.Arg31938Thr)
c.77576G>C (p.Arg25859Thr)
c.67430G>C (p.Arg22477Thr)
2g.178531934C>TCA349411157TTN,TTN-AS1c.96977G>A (p.Arg32326Lys)
c.78062G>A (p.Arg26021Lys)
c.77861G>A (p.Arg25954Lys)
c.77486G>A (p.Arg25829Lys)
c.104681G>A (p.Arg34894Lys)
c.99758G>A (p.Arg33253Lys)
n.446+8298C>T
n.220-3798C>T
c.103778G>A (p.Arg34593Lys)
c.77672G>A (p.Arg25891Lys)
c.77531G>A (p.Arg25844Lys)
c.103574G>A (p.Arg34525Lys)
c.98972G>A (p.Arg32991Lys)
c.98969G>A (p.Arg32990Lys)
c.96011G>A (p.Arg32004Lys)
c.77627G>A (p.Arg25876Lys)
c.99122G>A (p.Arg33041Lys)
c.99119G>A (p.Arg33040Lys)
c.98552G>A (p.Arg32851Lys)
c.95894G>A (p.Arg31965Lys)
c.95813G>A (p.Arg31938Lys)
c.77576G>A (p.Arg25859Lys)
c.67430G>A (p.Arg22477Lys)
2g.178531935T>ACA349411158TTN,TTN-AS1c.96976A>T (p.Arg32326Ter)
c.78061A>T (p.Arg26021Ter)
c.77860A>T (p.Arg25954Ter)
c.77485A>T (p.Arg25829Ter)
c.104680A>T (p.Arg34894Ter)
c.99757A>T (p.Arg33253Ter)
n.446+8299T>A
n.220-3797T>A
c.103777A>T (p.Arg34593Ter)
c.77671A>T (p.Arg25891Ter)
c.77530A>T (p.Arg25844Ter)
c.103573A>T (p.Arg34525Ter)
c.98971A>T (p.Arg32991Ter)
c.98968A>T (p.Arg32990Ter)
c.96010A>T (p.Arg32004Ter)
c.77626A>T (p.Arg25876Ter)
c.99121A>T (p.Arg33041Ter)
c.99118A>T (p.Arg33040Ter)
c.98551A>T (p.Arg32851Ter)
c.95893A>T (p.Arg31965Ter)
c.95812A>T (p.Arg31938Ter)
c.77575A>T (p.Arg25859Ter)
c.67429A>T (p.Arg22477Ter)
2g.178531935T>CCA349411159TTN,TTN-AS1c.96976A>G (p.Arg32326Gly)
c.78061A>G (p.Arg26021Gly)
c.77860A>G (p.Arg25954Gly)
c.77485A>G (p.Arg25829Gly)
c.104680A>G (p.Arg34894Gly)
c.99757A>G (p.Arg33253Gly)
n.446+8299T>C
n.220-3797T>C
c.103777A>G (p.Arg34593Gly)
c.77671A>G (p.Arg25891Gly)
c.77530A>G (p.Arg25844Gly)
c.103573A>G (p.Arg34525Gly)
c.98971A>G (p.Arg32991Gly)
c.98968A>G (p.Arg32990Gly)
c.96010A>G (p.Arg32004Gly)
c.77626A>G (p.Arg25876Gly)
c.99121A>G (p.Arg33041Gly)
c.99118A>G (p.Arg33040Gly)
c.98551A>G (p.Arg32851Gly)
c.95893A>G (p.Arg31965Gly)
c.95812A>G (p.Arg31938Gly)
c.77575A>G (p.Arg25859Gly)
c.67429A>G (p.Arg22477Gly)
 ClinVar
2g.178531935T>GCA430235662TTN,TTN-AS1c.96976A>C (p.Arg32326=)
c.78061A>C (p.Arg26021=)
c.77860A>C (p.Arg25954=)
c.77485A>C (p.Arg25829=)
c.104680A>C (p.Arg34894=)
c.99757A>C (p.Arg33253=)
n.446+8299T>G
n.220-3797T>G
c.103777A>C (p.Arg34593=)
c.77671A>C (p.Arg25891=)
c.77530A>C (p.Arg25844=)
c.103573A>C (p.Arg34525=)
c.98971A>C (p.Arg32991=)
c.98968A>C (p.Arg32990=)
c.96010A>C (p.Arg32004=)
c.77626A>C (p.Arg25876=)
c.99121A>C (p.Arg33041=)
c.99118A>C (p.Arg33040=)
c.98551A>C (p.Arg32851=)
c.95893A>C (p.Arg31965=)
c.95812A>C (p.Arg31938=)
c.77575A>C (p.Arg25859=)
c.67429A>C (p.Arg22477=)
 gnomAD v4
2g.178531935_178531939delinsTCTCACA1310517995TTN,TTN-AS1c.96972_96976delinsTGAGA (p.Ser32324=)
c.78057_78061delinsTGAGA (p.Ser26019=)
c.77856_77860delinsTGAGA (p.Ser25952=)
c.77481_77485delinsTGAGA (p.Ser25827=)
c.104676_104680delinsTGAGA (p.Ser34892=)
c.99753_99757delinsTGAGA (p.Ser33251=)
n.446+8299_446+8303delinsTCTCA
n.220-3797_220-3793delinsTCTCA
c.103773_103777delinsTGAGA (p.Ser34591=)
c.77667_77671delinsTGAGA (p.Ser25889=)
c.77526_77530delinsTGAGA (p.Ser25842=)
c.103569_103573delinsTGAGA (p.Ser34523=)
c.98967_98971delinsTGAGA (p.Ser32989=)
c.98964_98968delinsTGAGA (p.Ser32988=)
c.96006_96010delinsTGAGA (p.Ser32002=)
c.77622_77626delinsTGAGA (p.Ser25874=)
c.99117_99121delinsTGAGA (p.Ser33039=)
c.99114_99118delinsTGAGA (p.Ser33038=)
c.98547_98551delinsTGAGA (p.Ser32849=)
c.95889_95893delinsTGAGA (p.Ser31963=)
c.95808_95812delinsTGAGA (p.Ser31936=)
c.77571_77575delinsTGAGA (p.Ser25857=)
c.67425_67429delinsTGAGA (p.Ser22475=)
2g.178531936C>ACA349411161TTN,TTN-AS1c.96975G>T (p.Glu32325Asp)
c.78060G>T (p.Glu26020Asp)
c.77859G>T (p.Glu25953Asp)
c.77484G>T (p.Glu25828Asp)
c.104679G>T (p.Glu34893Asp)
c.99756G>T (p.Glu33252Asp)
n.446+8300C>A
n.220-3796C>A
c.103776G>T (p.Glu34592Asp)
c.77670G>T (p.Glu25890Asp)
c.77529G>T (p.Glu25843Asp)
c.103572G>T (p.Glu34524Asp)
c.98970G>T (p.Glu32990Asp)
c.98967G>T (p.Glu32989Asp)
c.96009G>T (p.Glu32003Asp)
c.77625G>T (p.Glu25875Asp)
c.99120G>T (p.Glu33040Asp)
c.99117G>T (p.Glu33039Asp)
c.98550G>T (p.Glu32850Asp)
c.95892G>T (p.Glu31964Asp)
c.95811G>T (p.Glu31937Asp)
c.77574G>T (p.Glu25858Asp)
c.67428G>T (p.Glu22476Asp)
2g.178531936C=CA1310517997TTN,TTN-AS1c.96975G= (p.Glu32325=)
c.78060G= (p.Glu26020=)
c.77859G= (p.Glu25953=)
c.77484G= (p.Glu25828=)
c.104679G= (p.Glu34893=)
c.99756G= (p.Glu33252=)
n.446+8300C=
n.220-3796C=
c.103776G= (p.Glu34592=)
c.77670G= (p.Glu25890=)
c.77529G= (p.Glu25843=)
c.103572G= (p.Glu34524=)
c.98970G= (p.Glu32990=)
c.98967G= (p.Glu32989=)
c.96009G= (p.Glu32003=)
c.77625G= (p.Glu25875=)
c.99120G= (p.Glu33040=)
c.99117G= (p.Glu33039=)
c.98550G= (p.Glu32850=)
c.95892G= (p.Glu31964=)
c.95811G= (p.Glu31937=)
c.77574G= (p.Glu25858=)
c.67428G= (p.Glu22476=)
2g.178531936C>GCA349411160TTN,TTN-AS1c.96975G>C (p.Glu32325Asp)
c.78060G>C (p.Glu26020Asp)
c.77859G>C (p.Glu25953Asp)
c.77484G>C (p.Glu25828Asp)
c.104679G>C (p.Glu34893Asp)
c.99756G>C (p.Glu33252Asp)
n.446+8300C>G
n.220-3796C>G
c.103776G>C (p.Glu34592Asp)
c.77670G>C (p.Glu25890Asp)
c.77529G>C (p.Glu25843Asp)
c.103572G>C (p.Glu34524Asp)
c.98970G>C (p.Glu32990Asp)
c.98967G>C (p.Glu32989Asp)
c.96009G>C (p.Glu32003Asp)
c.77625G>C (p.Glu25875Asp)
c.99120G>C (p.Glu33040Asp)
c.99117G>C (p.Glu33039Asp)
c.98550G>C (p.Glu32850Asp)
c.95892G>C (p.Glu31964Asp)
c.95811G>C (p.Glu31937Asp)
c.77574G>C (p.Glu25858Asp)
c.67428G>C (p.Glu22476Asp)
 dbSNP
2g.178531936C>TCA430235665TTN,TTN-AS1c.96975G>A (p.Glu32325=)
c.78060G>A (p.Glu26020=)
c.77859G>A (p.Glu25953=)
c.77484G>A (p.Glu25828=)
c.104679G>A (p.Glu34893=)
c.99756G>A (p.Glu33252=)
n.446+8300C>T
n.220-3796C>T
c.103776G>A (p.Glu34592=)
c.77670G>A (p.Glu25890=)
c.77529G>A (p.Glu25843=)
c.103572G>A (p.Glu34524=)
c.98970G>A (p.Glu32990=)
c.98967G>A (p.Glu32989=)
c.96009G>A (p.Glu32003=)
c.77625G>A (p.Glu25875=)
c.99120G>A (p.Glu33040=)
c.99117G>A (p.Glu33039=)
c.98550G>A (p.Glu32850=)
c.95892G>A (p.Glu31964=)
c.95811G>A (p.Glu31937=)
c.77574G>A (p.Glu25858=)
c.67428G>A (p.Glu22476=)
2g.178531938_178531941delCA1310517996TTN,TTN-AS1c.96972_96975del (p.Ser32324ArgfsTer22)
c.78057_78060del (p.Ser26019ArgfsTer22)
c.77856_77859del (p.Ser25952ArgfsTer22)
c.77481_77484del (p.Ser25827ArgfsTer22)
c.104676_104679del (p.Ser34892ArgfsTer22)
c.99753_99756del (p.Ser33251ArgfsTer22)
n.446+8302_446+8305del
n.220-3794_220-3791del
c.103773_103776del (p.Ser34591ArgfsTer22)
c.77667_77670del (p.Ser25889ArgfsTer22)
c.77526_77529del (p.Ser25842ArgfsTer22)
c.103569_103572del (p.Ser34523ArgfsTer22)
c.98967_98970del (p.Ser32989ArgfsTer22)
c.98964_98967del (p.Ser32988ArgfsTer22)
c.96006_96009del (p.Ser32002ArgfsTer22)
c.77622_77625del (p.Ser25874ArgfsTer22)
c.99117_99120del (p.Ser33039ArgfsTer22)
c.99114_99117del (p.Ser33038ArgfsTer22)
c.98547_98550del (p.Ser32849ArgfsTer22)
c.95889_95892del (p.Ser31963ArgfsTer22)
c.95808_95811del (p.Ser31936ArgfsTer22)
c.77571_77574del (p.Ser25857ArgfsTer22)
c.67425_67428del (p.Ser22475ArgfsTer22)
 dbSNP
2g.178531937T>ACA349411162TTN,TTN-AS1c.96974A>T (p.Glu32325Val)
c.78059A>T (p.Glu26020Val)
c.77858A>T (p.Glu25953Val)
c.77483A>T (p.Glu25828Val)
c.104678A>T (p.Glu34893Val)
c.99755A>T (p.Glu33252Val)
n.446+8301T>A
n.220-3795T>A
c.103775A>T (p.Glu34592Val)
c.77669A>T (p.Glu25890Val)
c.77528A>T (p.Glu25843Val)
c.103571A>T (p.Glu34524Val)
c.98969A>T (p.Glu32990Val)
c.98966A>T (p.Glu32989Val)
c.96008A>T (p.Glu32003Val)
c.77624A>T (p.Glu25875Val)
c.99119A>T (p.Glu33040Val)
c.99116A>T (p.Glu33039Val)
c.98549A>T (p.Glu32850Val)
c.95891A>T (p.Glu31964Val)
c.95810A>T (p.Glu31937Val)
c.77573A>T (p.Glu25858Val)
c.67427A>T (p.Glu22476Val)
2g.178531937T>CCA349411163TTN,TTN-AS1c.96974A>G (p.Glu32325Gly)
c.78059A>G (p.Glu26020Gly)
c.77858A>G (p.Glu25953Gly)
c.77483A>G (p.Glu25828Gly)
c.104678A>G (p.Glu34893Gly)
c.99755A>G (p.Glu33252Gly)
n.446+8301T>C
n.220-3795T>C
c.103775A>G (p.Glu34592Gly)
c.77669A>G (p.Glu25890Gly)
c.77528A>G (p.Glu25843Gly)
c.103571A>G (p.Glu34524Gly)
c.98969A>G (p.Glu32990Gly)
c.98966A>G (p.Glu32989Gly)
c.96008A>G (p.Glu32003Gly)
c.77624A>G (p.Glu25875Gly)
c.99119A>G (p.Glu33040Gly)
c.99116A>G (p.Glu33039Gly)
c.98549A>G (p.Glu32850Gly)
c.95891A>G (p.Glu31964Gly)
c.95810A>G (p.Glu31937Gly)
c.77573A>G (p.Glu25858Gly)
c.67427A>G (p.Glu22476Gly)
2g.178531937T>GCA349411164TTN,TTN-AS1c.96974A>C (p.Glu32325Ala)
c.78059A>C (p.Glu26020Ala)
c.77858A>C (p.Glu25953Ala)
c.77483A>C (p.Glu25828Ala)
c.104678A>C (p.Glu34893Ala)
c.99755A>C (p.Glu33252Ala)
n.446+8301T>G
n.220-3795T>G
c.103775A>C (p.Glu34592Ala)
c.77669A>C (p.Glu25890Ala)
c.77528A>C (p.Glu25843Ala)
c.103571A>C (p.Glu34524Ala)
c.98969A>C (p.Glu32990Ala)
c.98966A>C (p.Glu32989Ala)
c.96008A>C (p.Glu32003Ala)
c.77624A>C (p.Glu25875Ala)
c.99119A>C (p.Glu33040Ala)
c.99116A>C (p.Glu33039Ala)
c.98549A>C (p.Glu32850Ala)
c.95891A>C (p.Glu31964Ala)
c.95810A>C (p.Glu31937Ala)
c.77573A>C (p.Glu25858Ala)
c.67427A>C (p.Glu22476Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178531937T=CA1310517998TTN,TTN-AS1c.96974A= (p.Glu32325=)
c.78059A= (p.Glu26020=)
c.77858A= (p.Glu25953=)
c.77483A= (p.Glu25828=)
c.104678A= (p.Glu34893=)
c.99755A= (p.Glu33252=)
n.446+8301T=
n.220-3795T=
c.103775A= (p.Glu34592=)
c.77669A= (p.Glu25890=)
c.77528A= (p.Glu25843=)
c.103571A= (p.Glu34524=)
c.98969A= (p.Glu32990=)
c.98966A= (p.Glu32989=)
c.96008A= (p.Glu32003=)
c.77624A= (p.Glu25875=)
c.99119A= (p.Glu33040=)
c.99116A= (p.Glu33039=)
c.98549A= (p.Glu32850=)
c.95891A= (p.Glu31964=)
c.95810A= (p.Glu31937=)
c.77573A= (p.Glu25858=)
c.67427A= (p.Glu22476=)
2g.178531938C>ACA349411165TTN,TTN-AS1c.96973G>T (p.Glu32325Ter)
c.78058G>T (p.Glu26020Ter)
c.77857G>T (p.Glu25953Ter)
c.77482G>T (p.Glu25828Ter)
c.104677G>T (p.Glu34893Ter)
c.99754G>T (p.Glu33252Ter)
n.446+8302C>A
n.220-3794C>A
c.103774G>T (p.Glu34592Ter)
c.77668G>T (p.Glu25890Ter)
c.77527G>T (p.Glu25843Ter)
c.103570G>T (p.Glu34524Ter)
c.98968G>T (p.Glu32990Ter)
c.98965G>T (p.Glu32989Ter)
c.96007G>T (p.Glu32003Ter)
c.77623G>T (p.Glu25875Ter)
c.99118G>T (p.Glu33040Ter)
c.99115G>T (p.Glu33039Ter)
c.98548G>T (p.Glu32850Ter)
c.95890G>T (p.Glu31964Ter)
c.95809G>T (p.Glu31937Ter)
c.77572G>T (p.Glu25858Ter)
c.67426G>T (p.Glu22476Ter)
2g.178531938C=CA1310517999TTN,TTN-AS1c.96973G= (p.Glu32325=)
c.78058G= (p.Glu26020=)
c.77857G= (p.Glu25953=)
c.77482G= (p.Glu25828=)
c.104677G= (p.Glu34893=)
c.99754G= (p.Glu33252=)
n.446+8302C=
n.220-3794C=
c.103774G= (p.Glu34592=)
c.77668G= (p.Glu25890=)
c.77527G= (p.Glu25843=)
c.103570G= (p.Glu34524=)
c.98968G= (p.Glu32990=)
c.98965G= (p.Glu32989=)
c.96007G= (p.Glu32003=)
c.77623G= (p.Glu25875=)
c.99118G= (p.Glu33040=)
c.99115G= (p.Glu33039=)
c.98548G= (p.Glu32850=)
c.95890G= (p.Glu31964=)
c.95809G= (p.Glu31937=)
c.77572G= (p.Glu25858=)
c.67426G= (p.Glu22476=)
2g.178531938C>GCA349411166TTN,TTN-AS1c.96973G>C (p.Glu32325Gln)
c.78058G>C (p.Glu26020Gln)
c.77857G>C (p.Glu25953Gln)
c.77482G>C (p.Glu25828Gln)
c.104677G>C (p.Glu34893Gln)
c.99754G>C (p.Glu33252Gln)
n.446+8302C>G
n.220-3794C>G
c.103774G>C (p.Glu34592Gln)
c.77668G>C (p.Glu25890Gln)
c.77527G>C (p.Glu25843Gln)
c.103570G>C (p.Glu34524Gln)
c.98968G>C (p.Glu32990Gln)
c.98965G>C (p.Glu32989Gln)
c.96007G>C (p.Glu32003Gln)
c.77623G>C (p.Glu25875Gln)
c.99118G>C (p.Glu33040Gln)
c.99115G>C (p.Glu33039Gln)
c.98548G>C (p.Glu32850Gln)
c.95890G>C (p.Glu31964Gln)
c.95809G>C (p.Glu31937Gln)
c.77572G>C (p.Glu25858Gln)
c.67426G>C (p.Glu22476Gln)
2g.178531938C>TCA1985383TTN,TTN-AS1c.96973G>A (p.Glu32325Lys)
c.78058G>A (p.Glu26020Lys)
c.77857G>A (p.Glu25953Lys)
c.77482G>A (p.Glu25828Lys)
c.104677G>A (p.Glu34893Lys)
c.99754G>A (p.Glu33252Lys)
n.446+8302C>T
n.220-3794C>T
c.103774G>A (p.Glu34592Lys)
c.77668G>A (p.Glu25890Lys)
c.77527G>A (p.Glu25843Lys)
c.103570G>A (p.Glu34524Lys)
c.98968G>A (p.Glu32990Lys)
c.98965G>A (p.Glu32989Lys)
c.96007G>A (p.Glu32003Lys)
c.77623G>A (p.Glu25875Lys)
c.99118G>A (p.Glu33040Lys)
c.99115G>A (p.Glu33039Lys)
c.98548G>A (p.Glu32850Lys)
c.95890G>A (p.Glu31964Lys)
c.95809G>A (p.Glu31937Lys)
c.77572G>A (p.Glu25858Lys)
c.67426G>A (p.Glu22476Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531939A>CCA349411167TTN,TTN-AS1c.96972T>G (p.Ser32324Arg)
c.78057T>G (p.Ser26019Arg)
c.77856T>G (p.Ser25952Arg)
c.77481T>G (p.Ser25827Arg)
c.104676T>G (p.Ser34892Arg)
c.99753T>G (p.Ser33251Arg)
n.446+8303A>C
n.220-3793A>C
c.103773T>G (p.Ser34591Arg)
c.77667T>G (p.Ser25889Arg)
c.77526T>G (p.Ser25842Arg)
c.103569T>G (p.Ser34523Arg)
c.98967T>G (p.Ser32989Arg)
c.98964T>G (p.Ser32988Arg)
c.96006T>G (p.Ser32002Arg)
c.77622T>G (p.Ser25874Arg)
c.99117T>G (p.Ser33039Arg)
c.99114T>G (p.Ser33038Arg)
c.98547T>G (p.Ser32849Arg)
c.95889T>G (p.Ser31963Arg)
c.95808T>G (p.Ser31936Arg)
c.77571T>G (p.Ser25857Arg)
c.67425T>G (p.Ser22475Arg)
2g.178531939A>GCA430235674TTN,TTN-AS1c.96972T>C (p.Ser32324=)
c.78057T>C (p.Ser26019=)
c.77856T>C (p.Ser25952=)
c.77481T>C (p.Ser25827=)
c.104676T>C (p.Ser34892=)
c.99753T>C (p.Ser33251=)
n.446+8303A>G
n.220-3793A>G
c.103773T>C (p.Ser34591=)
c.77667T>C (p.Ser25889=)
c.77526T>C (p.Ser25842=)
c.103569T>C (p.Ser34523=)
c.98967T>C (p.Ser32989=)
c.98964T>C (p.Ser32988=)
c.96006T>C (p.Ser32002=)
c.77622T>C (p.Ser25874=)
c.99117T>C (p.Ser33039=)
c.99114T>C (p.Ser33038=)
c.98547T>C (p.Ser32849=)
c.95889T>C (p.Ser31963=)
c.95808T>C (p.Ser31936=)
c.77571T>C (p.Ser25857=)
c.67425T>C (p.Ser22475=)
 gnomAD v4
2g.178531939A>TCA349411168TTN,TTN-AS1c.96972T>A (p.Ser32324Arg)
c.78057T>A (p.Ser26019Arg)
c.77856T>A (p.Ser25952Arg)
c.77481T>A (p.Ser25827Arg)
c.104676T>A (p.Ser34892Arg)
c.99753T>A (p.Ser33251Arg)
n.446+8303A>T
n.220-3793A>T
c.103773T>A (p.Ser34591Arg)
c.77667T>A (p.Ser25889Arg)
c.77526T>A (p.Ser25842Arg)
c.103569T>A (p.Ser34523Arg)
c.98967T>A (p.Ser32989Arg)
c.98964T>A (p.Ser32988Arg)
c.96006T>A (p.Ser32002Arg)
c.77622T>A (p.Ser25874Arg)
c.99117T>A (p.Ser33039Arg)
c.99114T>A (p.Ser33038Arg)
c.98547T>A (p.Ser32849Arg)
c.95889T>A (p.Ser31963Arg)
c.95808T>A (p.Ser31936Arg)
c.77571T>A (p.Ser25857Arg)
c.67425T>A (p.Ser22475Arg)
2g.178531940C>ACA349411169TTN,TTN-AS1c.96971G>T (p.Ser32324Ile)
c.78056G>T (p.Ser26019Ile)
c.77855G>T (p.Ser25952Ile)
c.77480G>T (p.Ser25827Ile)
c.104675G>T (p.Ser34892Ile)
c.99752G>T (p.Ser33251Ile)
n.446+8304C>A
n.220-3792C>A
c.103772G>T (p.Ser34591Ile)
c.77666G>T (p.Ser25889Ile)
c.77525G>T (p.Ser25842Ile)
c.103568G>T (p.Ser34523Ile)
c.98966G>T (p.Ser32989Ile)
c.98963G>T (p.Ser32988Ile)
c.96005G>T (p.Ser32002Ile)
c.77621G>T (p.Ser25874Ile)
c.99116G>T (p.Ser33039Ile)
c.99113G>T (p.Ser33038Ile)
c.98546G>T (p.Ser32849Ile)
c.95888G>T (p.Ser31963Ile)
c.95807G>T (p.Ser31936Ile)
c.77570G>T (p.Ser25857Ile)
c.67424G>T (p.Ser22475Ile)
2g.178531940C>GCA349411170TTN,TTN-AS1c.96971G>C (p.Ser32324Thr)
c.78056G>C (p.Ser26019Thr)
c.77855G>C (p.Ser25952Thr)
c.77480G>C (p.Ser25827Thr)
c.104675G>C (p.Ser34892Thr)
c.99752G>C (p.Ser33251Thr)
n.446+8304C>G
n.220-3792C>G
c.103772G>C (p.Ser34591Thr)
c.77666G>C (p.Ser25889Thr)
c.77525G>C (p.Ser25842Thr)
c.103568G>C (p.Ser34523Thr)
c.98966G>C (p.Ser32989Thr)
c.98963G>C (p.Ser32988Thr)
c.96005G>C (p.Ser32002Thr)
c.77621G>C (p.Ser25874Thr)
c.99116G>C (p.Ser33039Thr)
c.99113G>C (p.Ser33038Thr)
c.98546G>C (p.Ser32849Thr)
c.95888G>C (p.Ser31963Thr)
c.95807G>C (p.Ser31936Thr)
c.77570G>C (p.Ser25857Thr)
c.67424G>C (p.Ser22475Thr)
 gnomAD v4
2g.178531940C>TCA349411171TTN,TTN-AS1c.96971G>A (p.Ser32324Asn)
c.78056G>A (p.Ser26019Asn)
c.77855G>A (p.Ser25952Asn)
c.77480G>A (p.Ser25827Asn)
c.104675G>A (p.Ser34892Asn)
c.99752G>A (p.Ser33251Asn)
n.446+8304C>T
n.220-3792C>T
c.103772G>A (p.Ser34591Asn)
c.77666G>A (p.Ser25889Asn)
c.77525G>A (p.Ser25842Asn)
c.103568G>A (p.Ser34523Asn)
c.98966G>A (p.Ser32989Asn)
c.98963G>A (p.Ser32988Asn)
c.96005G>A (p.Ser32002Asn)
c.77621G>A (p.Ser25874Asn)
c.99116G>A (p.Ser33039Asn)
c.99113G>A (p.Ser33038Asn)
c.98546G>A (p.Ser32849Asn)
c.95888G>A (p.Ser31963Asn)
c.95807G>A (p.Ser31936Asn)
c.77570G>A (p.Ser25857Asn)
c.67424G>A (p.Ser22475Asn)
 ClinVar
2g.178531941T>ACA349411172TTN,TTN-AS1c.96970A>T (p.Ser32324Cys)
c.78055A>T (p.Ser26019Cys)
c.77854A>T (p.Ser25952Cys)
c.77479A>T (p.Ser25827Cys)
c.104674A>T (p.Ser34892Cys)
c.99751A>T (p.Ser33251Cys)
n.446+8305T>A
n.220-3791T>A
c.103771A>T (p.Ser34591Cys)
c.77665A>T (p.Ser25889Cys)
c.77524A>T (p.Ser25842Cys)
c.103567A>T (p.Ser34523Cys)
c.98965A>T (p.Ser32989Cys)
c.98962A>T (p.Ser32988Cys)
c.96004A>T (p.Ser32002Cys)
c.77620A>T (p.Ser25874Cys)
c.99115A>T (p.Ser33039Cys)
c.99112A>T (p.Ser33038Cys)
c.98545A>T (p.Ser32849Cys)
c.95887A>T (p.Ser31963Cys)
c.95806A>T (p.Ser31936Cys)
c.77569A>T (p.Ser25857Cys)
c.67423A>T (p.Ser22475Cys)
2g.178531941T>CCA1985384TTN,TTN-AS1c.96970A>G (p.Ser32324Gly)
c.78055A>G (p.Ser26019Gly)
c.77854A>G (p.Ser25952Gly)
c.77479A>G (p.Ser25827Gly)
c.104674A>G (p.Ser34892Gly)
c.99751A>G (p.Ser33251Gly)
n.446+8305T>C
n.220-3791T>C
c.103771A>G (p.Ser34591Gly)
c.77665A>G (p.Ser25889Gly)
c.77524A>G (p.Ser25842Gly)
c.103567A>G (p.Ser34523Gly)
c.98965A>G (p.Ser32989Gly)
c.98962A>G (p.Ser32988Gly)
c.96004A>G (p.Ser32002Gly)
c.77620A>G (p.Ser25874Gly)
c.99115A>G (p.Ser33039Gly)
c.99112A>G (p.Ser33038Gly)
c.98545A>G (p.Ser32849Gly)
c.95887A>G (p.Ser31963Gly)
c.95806A>G (p.Ser31936Gly)
c.77569A>G (p.Ser25857Gly)
c.67423A>G (p.Ser22475Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531941T>GCA349411173TTN,TTN-AS1c.96970A>C (p.Ser32324Arg)
c.78055A>C (p.Ser26019Arg)
c.77854A>C (p.Ser25952Arg)
c.77479A>C (p.Ser25827Arg)
c.104674A>C (p.Ser34892Arg)
c.99751A>C (p.Ser33251Arg)
n.446+8305T>G
n.220-3791T>G
c.103771A>C (p.Ser34591Arg)
c.77665A>C (p.Ser25889Arg)
c.77524A>C (p.Ser25842Arg)
c.103567A>C (p.Ser34523Arg)
c.98965A>C (p.Ser32989Arg)
c.98962A>C (p.Ser32988Arg)
c.96004A>C (p.Ser32002Arg)
c.77620A>C (p.Ser25874Arg)
c.99115A>C (p.Ser33039Arg)
c.99112A>C (p.Ser33038Arg)
c.98545A>C (p.Ser32849Arg)
c.95887A>C (p.Ser31963Arg)
c.95806A>C (p.Ser31936Arg)
c.77569A>C (p.Ser25857Arg)
c.67423A>C (p.Ser22475Arg)
2g.178531941T=CA1310518000TTN,TTN-AS1c.96970A= (p.Ser32324=)
c.78055A= (p.Ser26019=)
c.77854A= (p.Ser25952=)
c.77479A= (p.Ser25827=)
c.104674A= (p.Ser34892=)
c.99751A= (p.Ser33251=)
n.446+8305T=
n.220-3791T=
c.103771A= (p.Ser34591=)
c.77665A= (p.Ser25889=)
c.77524A= (p.Ser25842=)
c.103567A= (p.Ser34523=)
c.98965A= (p.Ser32989=)
c.98962A= (p.Ser32988=)
c.96004A= (p.Ser32002=)
c.77620A= (p.Ser25874=)
c.99115A= (p.Ser33039=)
c.99112A= (p.Ser33038=)
c.98545A= (p.Ser32849=)
c.95887A= (p.Ser31963=)
c.95806A= (p.Ser31936=)
c.77569A= (p.Ser25857=)
c.67423A= (p.Ser22475=)
2g.178531942A>CCA430235680TTN,TTN-AS1c.96969T>G (p.Ser32323=)
c.78054T>G (p.Ser26018=)
c.77853T>G (p.Ser25951=)
c.77478T>G (p.Ser25826=)
c.104673T>G (p.Ser34891=)
c.99750T>G (p.Ser33250=)
n.446+8306A>C
n.220-3790A>C
c.103770T>G (p.Ser34590=)
c.77664T>G (p.Ser25888=)
c.77523T>G (p.Ser25841=)
c.103566T>G (p.Ser34522=)
c.98964T>G (p.Ser32988=)
c.98961T>G (p.Ser32987=)
c.96003T>G (p.Ser32001=)
c.77619T>G (p.Ser25873=)
c.99114T>G (p.Ser33038=)
c.99111T>G (p.Ser33037=)
c.98544T>G (p.Ser32848=)
c.95886T>G (p.Ser31962=)
c.95805T>G (p.Ser31935=)
c.77568T>G (p.Ser25856=)
c.67422T>G (p.Ser22474=)
2g.178531942A>GCA430235681TTN,TTN-AS1c.96969T>C (p.Ser32323=)
c.78054T>C (p.Ser26018=)
c.77853T>C (p.Ser25951=)
c.77478T>C (p.Ser25826=)
c.104673T>C (p.Ser34891=)
c.99750T>C (p.Ser33250=)
n.446+8306A>G
n.220-3790A>G
c.103770T>C (p.Ser34590=)
c.77664T>C (p.Ser25888=)
c.77523T>C (p.Ser25841=)
c.103566T>C (p.Ser34522=)
c.98964T>C (p.Ser32988=)
c.98961T>C (p.Ser32987=)
c.96003T>C (p.Ser32001=)
c.77619T>C (p.Ser25873=)
c.99114T>C (p.Ser33038=)
c.99111T>C (p.Ser33037=)
c.98544T>C (p.Ser32848=)
c.95886T>C (p.Ser31962=)
c.95805T>C (p.Ser31935=)
c.77568T>C (p.Ser25856=)
c.67422T>C (p.Ser22474=)
2g.178531942A>TCA430235682TTN,TTN-AS1c.96969T>A (p.Ser32323=)
c.78054T>A (p.Ser26018=)
c.77853T>A (p.Ser25951=)
c.77478T>A (p.Ser25826=)
c.104673T>A (p.Ser34891=)
c.99750T>A (p.Ser33250=)
n.446+8306A>T
n.220-3790A>T
c.103770T>A (p.Ser34590=)
c.77664T>A (p.Ser25888=)
c.77523T>A (p.Ser25841=)
c.103566T>A (p.Ser34522=)
c.98964T>A (p.Ser32988=)
c.98961T>A (p.Ser32987=)
c.96003T>A (p.Ser32001=)
c.77619T>A (p.Ser25873=)
c.99114T>A (p.Ser33038=)
c.99111T>A (p.Ser33037=)
c.98544T>A (p.Ser32848=)
c.95886T>A (p.Ser31962=)
c.95805T>A (p.Ser31935=)
c.77568T>A (p.Ser25856=)
c.67422T>A (p.Ser22474=)
2g.178531943G>ACA349411175TTN,TTN-AS1c.96968C>T (p.Ser32323Phe)
c.78053C>T (p.Ser26018Phe)
c.77852C>T (p.Ser25951Phe)
c.77477C>T (p.Ser25826Phe)
c.104672C>T (p.Ser34891Phe)
c.99749C>T (p.Ser33250Phe)
n.446+8307G>A
n.220-3789G>A
c.103769C>T (p.Ser34590Phe)
c.77663C>T (p.Ser25888Phe)
c.77522C>T (p.Ser25841Phe)
c.103565C>T (p.Ser34522Phe)
c.98963C>T (p.Ser32988Phe)
c.98960C>T (p.Ser32987Phe)
c.96002C>T (p.Ser32001Phe)
c.77618C>T (p.Ser25873Phe)
c.99113C>T (p.Ser33038Phe)
c.99110C>T (p.Ser33037Phe)
c.98543C>T (p.Ser32848Phe)
c.95885C>T (p.Ser31962Phe)
c.95804C>T (p.Ser31935Phe)
c.77567C>T (p.Ser25856Phe)
c.67421C>T (p.Ser22474Phe)
2g.178531943G>CCA349411176TTN,TTN-AS1c.96968C>G (p.Ser32323Cys)
c.78053C>G (p.Ser26018Cys)
c.77852C>G (p.Ser25951Cys)
c.77477C>G (p.Ser25826Cys)
c.104672C>G (p.Ser34891Cys)
c.99749C>G (p.Ser33250Cys)
n.446+8307G>C
n.220-3789G>C
c.103769C>G (p.Ser34590Cys)
c.77663C>G (p.Ser25888Cys)
c.77522C>G (p.Ser25841Cys)
c.103565C>G (p.Ser34522Cys)
c.98963C>G (p.Ser32988Cys)
c.98960C>G (p.Ser32987Cys)
c.96002C>G (p.Ser32001Cys)
c.77618C>G (p.Ser25873Cys)
c.99113C>G (p.Ser33038Cys)
c.99110C>G (p.Ser33037Cys)
c.98543C>G (p.Ser32848Cys)
c.95885C>G (p.Ser31962Cys)
c.95804C>G (p.Ser31935Cys)
c.77567C>G (p.Ser25856Cys)
c.67421C>G (p.Ser22474Cys)
2g.178531943G>TCA349411174TTN,TTN-AS1c.96968C>A (p.Ser32323Tyr)
c.78053C>A (p.Ser26018Tyr)
c.77852C>A (p.Ser25951Tyr)
c.77477C>A (p.Ser25826Tyr)
c.104672C>A (p.Ser34891Tyr)
c.99749C>A (p.Ser33250Tyr)
n.446+8307G>T
n.220-3789G>T
c.103769C>A (p.Ser34590Tyr)
c.77663C>A (p.Ser25888Tyr)
c.77522C>A (p.Ser25841Tyr)
c.103565C>A (p.Ser34522Tyr)
c.98963C>A (p.Ser32988Tyr)
c.98960C>A (p.Ser32987Tyr)
c.96002C>A (p.Ser32001Tyr)
c.77618C>A (p.Ser25873Tyr)
c.99113C>A (p.Ser33038Tyr)
c.99110C>A (p.Ser33037Tyr)
c.98543C>A (p.Ser32848Tyr)
c.95885C>A (p.Ser31962Tyr)
c.95804C>A (p.Ser31935Tyr)
c.77567C>A (p.Ser25856Tyr)
c.67421C>A (p.Ser22474Tyr)
 COSMIC COSMIC COSMIC COSMIC
2g.178531944A=CA1310518001TTN,TTN-AS1c.96967T= (p.Ser32323=)
c.78052T= (p.Ser26018=)
c.77851T= (p.Ser25951=)
c.77476T= (p.Ser25826=)
c.104671T= (p.Ser34891=)
c.99748T= (p.Ser33250=)
n.446+8308A=
n.220-3788A=
c.103768T= (p.Ser34590=)
c.77662T= (p.Ser25888=)
c.77521T= (p.Ser25841=)
c.103564T= (p.Ser34522=)
c.98962T= (p.Ser32988=)
c.98959T= (p.Ser32987=)
c.96001T= (p.Ser32001=)
c.77617T= (p.Ser25873=)
c.99112T= (p.Ser33038=)
c.99109T= (p.Ser33037=)
c.98542T= (p.Ser32848=)
c.95884T= (p.Ser31962=)
c.95803T= (p.Ser31935=)
c.77566T= (p.Ser25856=)
c.67420T= (p.Ser22474=)
2g.178531944A>CCA349411177TTN,TTN-AS1c.96967T>G (p.Ser32323Ala)
c.78052T>G (p.Ser26018Ala)
c.77851T>G (p.Ser25951Ala)
c.77476T>G (p.Ser25826Ala)
c.104671T>G (p.Ser34891Ala)
c.99748T>G (p.Ser33250Ala)
n.446+8308A>C
n.220-3788A>C
c.103768T>G (p.Ser34590Ala)
c.77662T>G (p.Ser25888Ala)
c.77521T>G (p.Ser25841Ala)
c.103564T>G (p.Ser34522Ala)
c.98962T>G (p.Ser32988Ala)
c.98959T>G (p.Ser32987Ala)
c.96001T>G (p.Ser32001Ala)
c.77617T>G (p.Ser25873Ala)
c.99112T>G (p.Ser33038Ala)
c.99109T>G (p.Ser33037Ala)
c.98542T>G (p.Ser32848Ala)
c.95884T>G (p.Ser31962Ala)
c.95803T>G (p.Ser31935Ala)
c.77566T>G (p.Ser25856Ala)
c.67420T>G (p.Ser22474Ala)
2g.178531944A>GCA349411179TTN,TTN-AS1c.96967T>C (p.Ser32323Pro)
c.78052T>C (p.Ser26018Pro)
c.77851T>C (p.Ser25951Pro)
c.77476T>C (p.Ser25826Pro)
c.104671T>C (p.Ser34891Pro)
c.99748T>C (p.Ser33250Pro)
n.446+8308A>G
n.220-3788A>G
c.103768T>C (p.Ser34590Pro)
c.77662T>C (p.Ser25888Pro)
c.77521T>C (p.Ser25841Pro)
c.103564T>C (p.Ser34522Pro)
c.98962T>C (p.Ser32988Pro)
c.98959T>C (p.Ser32987Pro)
c.96001T>C (p.Ser32001Pro)
c.77617T>C (p.Ser25873Pro)
c.99112T>C (p.Ser33038Pro)
c.99109T>C (p.Ser33037Pro)
c.98542T>C (p.Ser32848Pro)
c.95884T>C (p.Ser31962Pro)
c.95803T>C (p.Ser31935Pro)
c.77566T>C (p.Ser25856Pro)
c.67420T>C (p.Ser22474Pro)
 gnomAD v4
2g.178531944A>TCA349411178TTN,TTN-AS1c.96967T>A (p.Ser32323Thr)
c.78052T>A (p.Ser26018Thr)
c.77851T>A (p.Ser25951Thr)
c.77476T>A (p.Ser25826Thr)
c.104671T>A (p.Ser34891Thr)
c.99748T>A (p.Ser33250Thr)
n.446+8308A>T
n.220-3788A>T
c.103768T>A (p.Ser34590Thr)
c.77662T>A (p.Ser25888Thr)
c.77521T>A (p.Ser25841Thr)
c.103564T>A (p.Ser34522Thr)
c.98962T>A (p.Ser32988Thr)
c.98959T>A (p.Ser32987Thr)
c.96001T>A (p.Ser32001Thr)
c.77617T>A (p.Ser25873Thr)
c.99112T>A (p.Ser33038Thr)
c.99109T>A (p.Ser33037Thr)
c.98542T>A (p.Ser32848Thr)
c.95884T>A (p.Ser31962Thr)
c.95803T>A (p.Ser31935Thr)
c.77566T>A (p.Ser25856Thr)
c.67420T>A (p.Ser22474Thr)
 ClinVar dbSNP
2g.178531945C>ACA430235687TTN,TTN-AS1c.96966G>T (p.Val32322=)
c.78051G>T (p.Val26017=)
c.77850G>T (p.Val25950=)
c.77475G>T (p.Val25825=)
c.104670G>T (p.Val34890=)
c.99747G>T (p.Val33249=)
n.446+8309C>A
n.220-3787C>A
c.103767G>T (p.Val34589=)
c.77661G>T (p.Val25887=)
c.77520G>T (p.Val25840=)
c.103563G>T (p.Val34521=)
c.98961G>T (p.Val32987=)
c.98958G>T (p.Val32986=)
c.96000G>T (p.Val32000=)
c.77616G>T (p.Val25872=)
c.99111G>T (p.Val33037=)
c.99108G>T (p.Val33036=)
c.98541G>T (p.Val32847=)
c.95883G>T (p.Val31961=)
c.95802G>T (p.Val31934=)
c.77565G>T (p.Val25855=)
c.67419G>T (p.Val22473=)
2g.178531945C>GCA430235690TTN,TTN-AS1c.96966G>C (p.Val32322=)
c.78051G>C (p.Val26017=)
c.77850G>C (p.Val25950=)
c.77475G>C (p.Val25825=)
c.104670G>C (p.Val34890=)
c.99747G>C (p.Val33249=)
n.446+8309C>G
n.220-3787C>G
c.103767G>C (p.Val34589=)
c.77661G>C (p.Val25887=)
c.77520G>C (p.Val25840=)
c.103563G>C (p.Val34521=)
c.98961G>C (p.Val32987=)
c.98958G>C (p.Val32986=)
c.96000G>C (p.Val32000=)
c.77616G>C (p.Val25872=)
c.99111G>C (p.Val33037=)
c.99108G>C (p.Val33036=)
c.98541G>C (p.Val32847=)
c.95883G>C (p.Val31961=)
c.95802G>C (p.Val31934=)
c.77565G>C (p.Val25855=)
c.67419G>C (p.Val22473=)
2g.178531945C>TCA430235688TTN,TTN-AS1c.96966G>A (p.Val32322=)
c.78051G>A (p.Val26017=)
c.77850G>A (p.Val25950=)
c.77475G>A (p.Val25825=)
c.104670G>A (p.Val34890=)
c.99747G>A (p.Val33249=)
n.446+8309C>T
n.220-3787C>T
c.103767G>A (p.Val34589=)
c.77661G>A (p.Val25887=)
c.77520G>A (p.Val25840=)
c.103563G>A (p.Val34521=)
c.98961G>A (p.Val32987=)
c.98958G>A (p.Val32986=)
c.96000G>A (p.Val32000=)
c.77616G>A (p.Val25872=)
c.99111G>A (p.Val33037=)
c.99108G>A (p.Val33036=)
c.98541G>A (p.Val32847=)
c.95883G>A (p.Val31961=)
c.95802G>A (p.Val31934=)
c.77565G>A (p.Val25855=)
c.67419G>A (p.Val22473=)
2g.178531946A>CCA349411180TTN,TTN-AS1c.96965T>G (p.Val32322Gly)
c.78050T>G (p.Val26017Gly)
c.77849T>G (p.Val25950Gly)
c.77474T>G (p.Val25825Gly)
c.104669T>G (p.Val34890Gly)
c.99746T>G (p.Val33249Gly)
n.446+8310A>C
n.220-3786A>C
c.103766T>G (p.Val34589Gly)
c.77660T>G (p.Val25887Gly)
c.77519T>G (p.Val25840Gly)
c.103562T>G (p.Val34521Gly)
c.98960T>G (p.Val32987Gly)
c.98957T>G (p.Val32986Gly)
c.95999T>G (p.Val32000Gly)
c.77615T>G (p.Val25872Gly)
c.99110T>G (p.Val33037Gly)
c.99107T>G (p.Val33036Gly)
c.98540T>G (p.Val32847Gly)
c.95882T>G (p.Val31961Gly)
c.95801T>G (p.Val31934Gly)
c.77564T>G (p.Val25855Gly)
c.67418T>G (p.Val22473Gly)
2g.178531946A>GCA349411181TTN,TTN-AS1c.96965T>C (p.Val32322Ala)
c.78050T>C (p.Val26017Ala)
c.77849T>C (p.Val25950Ala)
c.77474T>C (p.Val25825Ala)
c.104669T>C (p.Val34890Ala)
c.99746T>C (p.Val33249Ala)
n.446+8310A>G
n.220-3786A>G
c.103766T>C (p.Val34589Ala)
c.77660T>C (p.Val25887Ala)
c.77519T>C (p.Val25840Ala)
c.103562T>C (p.Val34521Ala)
c.98960T>C (p.Val32987Ala)
c.98957T>C (p.Val32986Ala)
c.95999T>C (p.Val32000Ala)
c.77615T>C (p.Val25872Ala)
c.99110T>C (p.Val33037Ala)
c.99107T>C (p.Val33036Ala)
c.98540T>C (p.Val32847Ala)
c.95882T>C (p.Val31961Ala)
c.95801T>C (p.Val31934Ala)
c.77564T>C (p.Val25855Ala)
c.67418T>C (p.Val22473Ala)
2g.178531946A>TCA349411182TTN,TTN-AS1c.96965T>A (p.Val32322Glu)
c.78050T>A (p.Val26017Glu)
c.77849T>A (p.Val25950Glu)
c.77474T>A (p.Val25825Glu)
c.104669T>A (p.Val34890Glu)
c.99746T>A (p.Val33249Glu)
n.446+8310A>T
n.220-3786A>T
c.103766T>A (p.Val34589Glu)
c.77660T>A (p.Val25887Glu)
c.77519T>A (p.Val25840Glu)
c.103562T>A (p.Val34521Glu)
c.98960T>A (p.Val32987Glu)
c.98957T>A (p.Val32986Glu)
c.95999T>A (p.Val32000Glu)
c.77615T>A (p.Val25872Glu)
c.99110T>A (p.Val33037Glu)
c.99107T>A (p.Val33036Glu)
c.98540T>A (p.Val32847Glu)
c.95882T>A (p.Val31961Glu)
c.95801T>A (p.Val31934Glu)
c.77564T>A (p.Val25855Glu)
c.67418T>A (p.Val22473Glu)
2g.178531947C>ACA349411183TTN,TTN-AS1c.96964G>T (p.Val32322Leu)
c.78049G>T (p.Val26017Leu)
c.77848G>T (p.Val25950Leu)
c.77473G>T (p.Val25825Leu)
c.104668G>T (p.Val34890Leu)
c.99745G>T (p.Val33249Leu)
n.446+8311C>A
n.220-3785C>A
c.103765G>T (p.Val34589Leu)
c.77659G>T (p.Val25887Leu)
c.77518G>T (p.Val25840Leu)
c.103561G>T (p.Val34521Leu)
c.98959G>T (p.Val32987Leu)
c.98956G>T (p.Val32986Leu)
c.95998G>T (p.Val32000Leu)
c.77614G>T (p.Val25872Leu)
c.99109G>T (p.Val33037Leu)
c.99106G>T (p.Val33036Leu)
c.98539G>T (p.Val32847Leu)
c.95881G>T (p.Val31961Leu)
c.95800G>T (p.Val31934Leu)
c.77563G>T (p.Val25855Leu)
c.67417G>T (p.Val22473Leu)
2g.178531947C=CA1310518002TTN,TTN-AS1c.96964G= (p.Val32322=)
c.78049G= (p.Val26017=)
c.77848G= (p.Val25950=)
c.77473G= (p.Val25825=)
c.104668G= (p.Val34890=)
c.99745G= (p.Val33249=)
n.446+8311C=
n.220-3785C=
c.103765G= (p.Val34589=)
c.77659G= (p.Val25887=)
c.77518G= (p.Val25840=)
c.103561G= (p.Val34521=)
c.98959G= (p.Val32987=)
c.98956G= (p.Val32986=)
c.95998G= (p.Val32000=)
c.77614G= (p.Val25872=)
c.99109G= (p.Val33037=)
c.99106G= (p.Val33036=)
c.98539G= (p.Val32847=)
c.95881G= (p.Val31961=)
c.95800G= (p.Val31934=)
c.77563G= (p.Val25855=)
c.67417G= (p.Val22473=)
2g.178531947C>GCA349411184TTN,TTN-AS1c.96964G>C (p.Val32322Leu)
c.78049G>C (p.Val26017Leu)
c.77848G>C (p.Val25950Leu)
c.77473G>C (p.Val25825Leu)
c.104668G>C (p.Val34890Leu)
c.99745G>C (p.Val33249Leu)
n.446+8311C>G
n.220-3785C>G
c.103765G>C (p.Val34589Leu)
c.77659G>C (p.Val25887Leu)
c.77518G>C (p.Val25840Leu)
c.103561G>C (p.Val34521Leu)
c.98959G>C (p.Val32987Leu)
c.98956G>C (p.Val32986Leu)
c.95998G>C (p.Val32000Leu)
c.77614G>C (p.Val25872Leu)
c.99109G>C (p.Val33037Leu)
c.99106G>C (p.Val33036Leu)
c.98539G>C (p.Val32847Leu)
c.95881G>C (p.Val31961Leu)
c.95800G>C (p.Val31934Leu)
c.77563G>C (p.Val25855Leu)
c.67417G>C (p.Val22473Leu)
 ClinVar dbSNP gnomAD v4
2g.178531947C>TCA349411185TTN,TTN-AS1c.96964G>A (p.Val32322Met)
c.78049G>A (p.Val26017Met)
c.77848G>A (p.Val25950Met)
c.77473G>A (p.Val25825Met)
c.104668G>A (p.Val34890Met)
c.99745G>A (p.Val33249Met)
n.446+8311C>T
n.220-3785C>T
c.103765G>A (p.Val34589Met)
c.77659G>A (p.Val25887Met)
c.77518G>A (p.Val25840Met)
c.103561G>A (p.Val34521Met)
c.98959G>A (p.Val32987Met)
c.98956G>A (p.Val32986Met)
c.95998G>A (p.Val32000Met)
c.77614G>A (p.Val25872Met)
c.99109G>A (p.Val33037Met)
c.99106G>A (p.Val33036Met)
c.98539G>A (p.Val32847Met)
c.95881G>A (p.Val31961Met)
c.95800G>A (p.Val31934Met)
c.77563G>A (p.Val25855Met)
c.67417G>A (p.Val22473Met)
2g.178531947dupCA2573134154TTN,TTN-AS1c.96964dup (p.Val32322GlyfsTer3)
c.78049dup (p.Val26017GlyfsTer3)
c.77848dup (p.Val25950GlyfsTer3)
c.77473dup (p.Val25825GlyfsTer3)
c.104668dup (p.Val34890GlyfsTer3)
c.99745dup (p.Val33249GlyfsTer3)
n.446+8311dup
n.220-3785dup
c.103765dup (p.Val34589GlyfsTer3)
c.77659dup (p.Val25887GlyfsTer3)
c.77518dup (p.Val25840GlyfsTer3)
c.103561dup (p.Val34521GlyfsTer3)
c.98959dup (p.Val32987GlyfsTer3)
c.98956dup (p.Val32986GlyfsTer3)
c.95998dup (p.Val32000GlyfsTer3)
c.77614dup (p.Val25872GlyfsTer3)
c.99109dup (p.Val33037GlyfsTer3)
c.99106dup (p.Val33036GlyfsTer3)
c.98539dup (p.Val32847GlyfsTer3)
c.95881dup (p.Val31961GlyfsTer3)
c.95800dup (p.Val31934GlyfsTer3)
c.77563dup (p.Val25855GlyfsTer3)
c.67417dup (p.Val22473GlyfsTer3)
 ClinVar dbSNP
2g.178531947_178531949delinsCAGCA1310518003TTN,TTN-AS1c.96962_96964delinsCTG (p.Pro32321=)
c.78047_78049delinsCTG (p.Pro26016=)
c.77846_77848delinsCTG (p.Pro25949=)
c.77471_77473delinsCTG (p.Pro25824=)
c.104666_104668delinsCTG (p.Pro34889=)
c.99743_99745delinsCTG (p.Pro33248=)
n.446+8311_446+8313delinsCAG
n.220-3785_220-3783delinsCAG
c.103763_103765delinsCTG (p.Pro34588=)
c.77657_77659delinsCTG (p.Pro25886=)
c.77516_77518delinsCTG (p.Pro25839=)
c.103559_103561delinsCTG (p.Pro34520=)
c.98957_98959delinsCTG (p.Pro32986=)
c.98954_98956delinsCTG (p.Pro32985=)
c.95996_95998delinsCTG (p.Pro31999=)
c.77612_77614delinsCTG (p.Pro25871=)
c.99107_99109delinsCTG (p.Pro33036=)
c.99104_99106delinsCTG (p.Pro33035=)
c.98537_98539delinsCTG (p.Pro32846=)
c.95879_95881delinsCTG (p.Pro31960=)
c.95798_95800delinsCTG (p.Pro31933=)
c.77561_77563delinsCTG (p.Pro25854=)
c.67415_67417delinsCTG (p.Pro22472=)
2g.178531948A>CCA430235697TTN,TTN-AS1c.96963T>G (p.Pro32321=)
c.78048T>G (p.Pro26016=)
c.77847T>G (p.Pro25949=)
c.77472T>G (p.Pro25824=)
c.104667T>G (p.Pro34889=)
c.99744T>G (p.Pro33248=)
n.446+8312A>C
n.220-3784A>C
c.103764T>G (p.Pro34588=)
c.77658T>G (p.Pro25886=)
c.77517T>G (p.Pro25839=)
c.103560T>G (p.Pro34520=)
c.98958T>G (p.Pro32986=)
c.98955T>G (p.Pro32985=)
c.95997T>G (p.Pro31999=)
c.77613T>G (p.Pro25871=)
c.99108T>G (p.Pro33036=)
c.99105T>G (p.Pro33035=)
c.98538T>G (p.Pro32846=)
c.95880T>G (p.Pro31960=)
c.95799T>G (p.Pro31933=)
c.77562T>G (p.Pro25854=)
c.67416T>G (p.Pro22472=)
2g.178531948A>GCA430235699TTN,TTN-AS1c.96963T>C (p.Pro32321=)
c.78048T>C (p.Pro26016=)
c.77847T>C (p.Pro25949=)
c.77472T>C (p.Pro25824=)
c.104667T>C (p.Pro34889=)
c.99744T>C (p.Pro33248=)
n.446+8312A>G
n.220-3784A>G
c.103764T>C (p.Pro34588=)
c.77658T>C (p.Pro25886=)
c.77517T>C (p.Pro25839=)
c.103560T>C (p.Pro34520=)
c.98958T>C (p.Pro32986=)
c.98955T>C (p.Pro32985=)
c.95997T>C (p.Pro31999=)
c.77613T>C (p.Pro25871=)
c.99108T>C (p.Pro33036=)
c.99105T>C (p.Pro33035=)
c.98538T>C (p.Pro32846=)
c.95880T>C (p.Pro31960=)
c.95799T>C (p.Pro31933=)
c.77562T>C (p.Pro25854=)
c.67416T>C (p.Pro22472=)
2g.178531948A>TCA430235701TTN,TTN-AS1c.96963T>A (p.Pro32321=)
c.78048T>A (p.Pro26016=)
c.77847T>A (p.Pro25949=)
c.77472T>A (p.Pro25824=)
c.104667T>A (p.Pro34889=)
c.99744T>A (p.Pro33248=)
n.446+8312A>T
n.220-3784A>T
c.103764T>A (p.Pro34588=)
c.77658T>A (p.Pro25886=)
c.77517T>A (p.Pro25839=)
c.103560T>A (p.Pro34520=)
c.98958T>A (p.Pro32986=)
c.98955T>A (p.Pro32985=)
c.95997T>A (p.Pro31999=)
c.77613T>A (p.Pro25871=)
c.99108T>A (p.Pro33036=)
c.99105T>A (p.Pro33035=)
c.98538T>A (p.Pro32846=)
c.95880T>A (p.Pro31960=)
c.95799T>A (p.Pro31933=)
c.77562T>A (p.Pro25854=)
c.67416T>A (p.Pro22472=)
2g.178531948_178531949delCA916081325TTN,TTN-AS1c.96962_96963del (p.Pro32321ArgfsTer3)
c.78047_78048del (p.Pro26016ArgfsTer3)
c.77846_77847del (p.Pro25949ArgfsTer3)
c.77471_77472del (p.Pro25824ArgfsTer3)
c.104666_104667del (p.Pro34889ArgfsTer3)
c.99743_99744del (p.Pro33248ArgfsTer3)
n.446+8312_446+8313del
n.220-3784_220-3783del
c.103763_103764del (p.Pro34588ArgfsTer3)
c.77657_77658del (p.Pro25886ArgfsTer3)
c.77516_77517del (p.Pro25839ArgfsTer3)
c.103559_103560del (p.Pro34520ArgfsTer3)
c.98957_98958del (p.Pro32986ArgfsTer3)
c.98954_98955del (p.Pro32985ArgfsTer3)
c.95996_95997del (p.Pro31999ArgfsTer3)
c.77612_77613del (p.Pro25871ArgfsTer3)
c.99107_99108del (p.Pro33036ArgfsTer3)
c.99104_99105del (p.Pro33035ArgfsTer3)
c.98537_98538del (p.Pro32846ArgfsTer3)
c.95879_95880del (p.Pro31960ArgfsTer3)
c.95798_95799del (p.Pro31933ArgfsTer3)
c.77561_77562del (p.Pro25854ArgfsTer3)
c.67415_67416del (p.Pro22472ArgfsTer3)
 ClinVar dbSNP
2g.178531949G>ACA349411188TTN,TTN-AS1c.96962C>T (p.Pro32321Leu)
c.78047C>T (p.Pro26016Leu)
c.77846C>T (p.Pro25949Leu)
c.77471C>T (p.Pro25824Leu)
c.104666C>T (p.Pro34889Leu)
c.99743C>T (p.Pro33248Leu)
n.446+8313G>A
n.220-3783G>A
c.103763C>T (p.Pro34588Leu)
c.77657C>T (p.Pro25886Leu)
c.77516C>T (p.Pro25839Leu)
c.103559C>T (p.Pro34520Leu)
c.98957C>T (p.Pro32986Leu)
c.98954C>T (p.Pro32985Leu)
c.95996C>T (p.Pro31999Leu)
c.77612C>T (p.Pro25871Leu)
c.99107C>T (p.Pro33036Leu)
c.99104C>T (p.Pro33035Leu)
c.98537C>T (p.Pro32846Leu)
c.95879C>T (p.Pro31960Leu)
c.95798C>T (p.Pro31933Leu)
c.77561C>T (p.Pro25854Leu)
c.67415C>T (p.Pro22472Leu)
2g.178531949G>CCA349411186TTN,TTN-AS1c.96962C>G (p.Pro32321Arg)
c.78047C>G (p.Pro26016Arg)
c.77846C>G (p.Pro25949Arg)
c.77471C>G (p.Pro25824Arg)
c.104666C>G (p.Pro34889Arg)
c.99743C>G (p.Pro33248Arg)
n.446+8313G>C
n.220-3783G>C
c.103763C>G (p.Pro34588Arg)
c.77657C>G (p.Pro25886Arg)
c.77516C>G (p.Pro25839Arg)
c.103559C>G (p.Pro34520Arg)
c.98957C>G (p.Pro32986Arg)
c.98954C>G (p.Pro32985Arg)
c.95996C>G (p.Pro31999Arg)
c.77612C>G (p.Pro25871Arg)
c.99107C>G (p.Pro33036Arg)
c.99104C>G (p.Pro33035Arg)
c.98537C>G (p.Pro32846Arg)
c.95879C>G (p.Pro31960Arg)
c.95798C>G (p.Pro31933Arg)
c.77561C>G (p.Pro25854Arg)
c.67415C>G (p.Pro22472Arg)
2g.178531949G>TCA349411187TTN,TTN-AS1c.96962C>A (p.Pro32321His)
c.78047C>A (p.Pro26016His)
c.77846C>A (p.Pro25949His)
c.77471C>A (p.Pro25824His)
c.104666C>A (p.Pro34889His)
c.99743C>A (p.Pro33248His)
n.446+8313G>T
n.220-3783G>T
c.103763C>A (p.Pro34588His)
c.77657C>A (p.Pro25886His)
c.77516C>A (p.Pro25839His)
c.103559C>A (p.Pro34520His)
c.98957C>A (p.Pro32986His)
c.98954C>A (p.Pro32985His)
c.95996C>A (p.Pro31999His)
c.77612C>A (p.Pro25871His)
c.99107C>A (p.Pro33036His)
c.99104C>A (p.Pro33035His)
c.98537C>A (p.Pro32846His)
c.95879C>A (p.Pro31960His)
c.95798C>A (p.Pro31933His)
c.77561C>A (p.Pro25854His)
c.67415C>A (p.Pro22472His)
2g.178531950G>ACA349411189TTN,TTN-AS1c.96961C>T (p.Pro32321Ser)
c.78046C>T (p.Pro26016Ser)
c.77845C>T (p.Pro25949Ser)
c.77470C>T (p.Pro25824Ser)
c.104665C>T (p.Pro34889Ser)
c.99742C>T (p.Pro33248Ser)
n.446+8314G>A
n.220-3782G>A
c.103762C>T (p.Pro34588Ser)
c.77656C>T (p.Pro25886Ser)
c.77515C>T (p.Pro25839Ser)
c.103558C>T (p.Pro34520Ser)
c.98956C>T (p.Pro32986Ser)
c.98953C>T (p.Pro32985Ser)
c.95995C>T (p.Pro31999Ser)
c.77611C>T (p.Pro25871Ser)
c.99106C>T (p.Pro33036Ser)
c.99103C>T (p.Pro33035Ser)
c.98536C>T (p.Pro32846Ser)
c.95878C>T (p.Pro31960Ser)
c.95797C>T (p.Pro31933Ser)
c.77560C>T (p.Pro25854Ser)
c.67414C>T (p.Pro22472Ser)
2g.178531950G>CCA349411190TTN,TTN-AS1c.96961C>G (p.Pro32321Ala)
c.78046C>G (p.Pro26016Ala)
c.77845C>G (p.Pro25949Ala)
c.77470C>G (p.Pro25824Ala)
c.104665C>G (p.Pro34889Ala)
c.99742C>G (p.Pro33248Ala)
n.446+8314G>C
n.220-3782G>C
c.103762C>G (p.Pro34588Ala)
c.77656C>G (p.Pro25886Ala)
c.77515C>G (p.Pro25839Ala)
c.103558C>G (p.Pro34520Ala)
c.98956C>G (p.Pro32986Ala)
c.98953C>G (p.Pro32985Ala)
c.95995C>G (p.Pro31999Ala)
c.77611C>G (p.Pro25871Ala)
c.99106C>G (p.Pro33036Ala)
c.99103C>G (p.Pro33035Ala)
c.98536C>G (p.Pro32846Ala)
c.95878C>G (p.Pro31960Ala)
c.95797C>G (p.Pro31933Ala)
c.77560C>G (p.Pro25854Ala)
c.67414C>G (p.Pro22472Ala)
 dbSNP
2g.178531950G=CA1310518004TTN,TTN-AS1c.96961C= (p.Pro32321=)
c.78046C= (p.Pro26016=)
c.77845C= (p.Pro25949=)
c.77470C= (p.Pro25824=)
c.104665C= (p.Pro34889=)
c.99742C= (p.Pro33248=)
n.446+8314G=
n.220-3782G=
c.103762C= (p.Pro34588=)
c.77656C= (p.Pro25886=)
c.77515C= (p.Pro25839=)
c.103558C= (p.Pro34520=)
c.98956C= (p.Pro32986=)
c.98953C= (p.Pro32985=)
c.95995C= (p.Pro31999=)
c.77611C= (p.Pro25871=)
c.99106C= (p.Pro33036=)
c.99103C= (p.Pro33035=)
c.98536C= (p.Pro32846=)
c.95878C= (p.Pro31960=)
c.95797C= (p.Pro31933=)
c.77560C= (p.Pro25854=)
c.67414C= (p.Pro22472=)
2g.178531950G>TCA349411191TTN,TTN-AS1c.96961C>A (p.Pro32321Thr)
c.78046C>A (p.Pro26016Thr)
c.77845C>A (p.Pro25949Thr)
c.77470C>A (p.Pro25824Thr)
c.104665C>A (p.Pro34889Thr)
c.99742C>A (p.Pro33248Thr)
n.446+8314G>T
n.220-3782G>T
c.103762C>A (p.Pro34588Thr)
c.77656C>A (p.Pro25886Thr)
c.77515C>A (p.Pro25839Thr)
c.103558C>A (p.Pro34520Thr)
c.98956C>A (p.Pro32986Thr)
c.98953C>A (p.Pro32985Thr)
c.95995C>A (p.Pro31999Thr)
c.77611C>A (p.Pro25871Thr)
c.99106C>A (p.Pro33036Thr)
c.99103C>A (p.Pro33035Thr)
c.98536C>A (p.Pro32846Thr)
c.95878C>A (p.Pro31960Thr)
c.95797C>A (p.Pro31933Thr)
c.77560C>A (p.Pro25854Thr)
c.67414C>A (p.Pro22472Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.178531951G>ACA430235705TTN,TTN-AS1c.96960C>T (p.Ser32320=)
c.78045C>T (p.Ser26015=)
c.77844C>T (p.Ser25948=)
c.77469C>T (p.Ser25823=)
c.104664C>T (p.Ser34888=)
c.99741C>T (p.Ser33247=)
n.446+8315G>A
n.220-3781G>A
c.103761C>T (p.Ser34587=)
c.77655C>T (p.Ser25885=)
c.77514C>T (p.Ser25838=)
c.103557C>T (p.Ser34519=)
c.98955C>T (p.Ser32985=)
c.98952C>T (p.Ser32984=)
c.95994C>T (p.Ser31998=)
c.77610C>T (p.Ser25870=)
c.99105C>T (p.Ser33035=)
c.99102C>T (p.Ser33034=)
c.98535C>T (p.Ser32845=)
c.95877C>T (p.Ser31959=)
c.95796C>T (p.Ser31932=)
c.77559C>T (p.Ser25853=)
c.67413C>T (p.Ser22471=)
 ClinVar dbSNP gnomAD v4
2g.178531951G>CCA349411192TTN,TTN-AS1c.96960C>G (p.Ser32320Arg)
c.78045C>G (p.Ser26015Arg)
c.77844C>G (p.Ser25948Arg)
c.77469C>G (p.Ser25823Arg)
c.104664C>G (p.Ser34888Arg)
c.99741C>G (p.Ser33247Arg)
n.446+8315G>C
n.220-3781G>C
c.103761C>G (p.Ser34587Arg)
c.77655C>G (p.Ser25885Arg)
c.77514C>G (p.Ser25838Arg)
c.103557C>G (p.Ser34519Arg)
c.98955C>G (p.Ser32985Arg)
c.98952C>G (p.Ser32984Arg)
c.95994C>G (p.Ser31998Arg)
c.77610C>G (p.Ser25870Arg)
c.99105C>G (p.Ser33035Arg)
c.99102C>G (p.Ser33034Arg)
c.98535C>G (p.Ser32845Arg)
c.95877C>G (p.Ser31959Arg)
c.95796C>G (p.Ser31932Arg)
c.77559C>G (p.Ser25853Arg)
c.67413C>G (p.Ser22471Arg)
 ClinVar dbSNP gnomAD v4
2g.178531951G=CA1310518005TTN,TTN-AS1c.96960C= (p.Ser32320=)
c.78045C= (p.Ser26015=)
c.77844C= (p.Ser25948=)
c.77469C= (p.Ser25823=)
c.104664C= (p.Ser34888=)
c.99741C= (p.Ser33247=)
n.446+8315G=
n.220-3781G=
c.103761C= (p.Ser34587=)
c.77655C= (p.Ser25885=)
c.77514C= (p.Ser25838=)
c.103557C= (p.Ser34519=)
c.98955C= (p.Ser32985=)
c.98952C= (p.Ser32984=)
c.95994C= (p.Ser31998=)
c.77610C= (p.Ser25870=)
c.99105C= (p.Ser33035=)
c.99102C= (p.Ser33034=)
c.98535C= (p.Ser32845=)
c.95877C= (p.Ser31959=)
c.95796C= (p.Ser31932=)
c.77559C= (p.Ser25853=)
c.67413C= (p.Ser22471=)
2g.178531951G>TCA349411193TTN,TTN-AS1c.96960C>A (p.Ser32320Arg)
c.78045C>A (p.Ser26015Arg)
c.77844C>A (p.Ser25948Arg)
c.77469C>A (p.Ser25823Arg)
c.104664C>A (p.Ser34888Arg)
c.99741C>A (p.Ser33247Arg)
n.446+8315G>T
n.220-3781G>T
c.103761C>A (p.Ser34587Arg)
c.77655C>A (p.Ser25885Arg)
c.77514C>A (p.Ser25838Arg)
c.103557C>A (p.Ser34519Arg)
c.98955C>A (p.Ser32985Arg)
c.98952C>A (p.Ser32984Arg)
c.95994C>A (p.Ser31998Arg)
c.77610C>A (p.Ser25870Arg)
c.99105C>A (p.Ser33035Arg)
c.99102C>A (p.Ser33034Arg)
c.98535C>A (p.Ser32845Arg)
c.95877C>A (p.Ser31959Arg)
c.95796C>A (p.Ser31932Arg)
c.77559C>A (p.Ser25853Arg)
c.67413C>A (p.Ser22471Arg)
2g.178531952C>ACA349411196TTN,TTN-AS1c.96959G>T (p.Ser32320Ile)
c.78044G>T (p.Ser26015Ile)
c.77843G>T (p.Ser25948Ile)
c.77468G>T (p.Ser25823Ile)
c.104663G>T (p.Ser34888Ile)
c.99740G>T (p.Ser33247Ile)
n.446+8316C>A
n.220-3780C>A
c.103760G>T (p.Ser34587Ile)
c.77654G>T (p.Ser25885Ile)
c.77513G>T (p.Ser25838Ile)
c.103556G>T (p.Ser34519Ile)
c.98954G>T (p.Ser32985Ile)
c.98951G>T (p.Ser32984Ile)
c.95993G>T (p.Ser31998Ile)
c.77609G>T (p.Ser25870Ile)
c.99104G>T (p.Ser33035Ile)
c.99101G>T (p.Ser33034Ile)
c.98534G>T (p.Ser32845Ile)
c.95876G>T (p.Ser31959Ile)
c.95795G>T (p.Ser31932Ile)
c.77558G>T (p.Ser25853Ile)
c.67412G>T (p.Ser22471Ile)
2g.178531952C>GCA349411194TTN,TTN-AS1c.96959G>C (p.Ser32320Thr)
c.78044G>C (p.Ser26015Thr)
c.77843G>C (p.Ser25948Thr)
c.77468G>C (p.Ser25823Thr)
c.104663G>C (p.Ser34888Thr)
c.99740G>C (p.Ser33247Thr)
n.446+8316C>G
n.220-3780C>G
c.103760G>C (p.Ser34587Thr)
c.77654G>C (p.Ser25885Thr)
c.77513G>C (p.Ser25838Thr)
c.103556G>C (p.Ser34519Thr)
c.98954G>C (p.Ser32985Thr)
c.98951G>C (p.Ser32984Thr)
c.95993G>C (p.Ser31998Thr)
c.77609G>C (p.Ser25870Thr)
c.99104G>C (p.Ser33035Thr)
c.99101G>C (p.Ser33034Thr)
c.98534G>C (p.Ser32845Thr)
c.95876G>C (p.Ser31959Thr)
c.95795G>C (p.Ser31932Thr)
c.77558G>C (p.Ser25853Thr)
c.67412G>C (p.Ser22471Thr)
2g.178531952C>TCA349411195TTN,TTN-AS1c.96959G>A (p.Ser32320Asn)
c.78044G>A (p.Ser26015Asn)
c.77843G>A (p.Ser25948Asn)
c.77468G>A (p.Ser25823Asn)
c.104663G>A (p.Ser34888Asn)
c.99740G>A (p.Ser33247Asn)
n.446+8316C>T
n.220-3780C>T
c.103760G>A (p.Ser34587Asn)
c.77654G>A (p.Ser25885Asn)
c.77513G>A (p.Ser25838Asn)
c.103556G>A (p.Ser34519Asn)
c.98954G>A (p.Ser32985Asn)
c.98951G>A (p.Ser32984Asn)
c.95993G>A (p.Ser31998Asn)
c.77609G>A (p.Ser25870Asn)
c.99104G>A (p.Ser33035Asn)
c.99101G>A (p.Ser33034Asn)
c.98534G>A (p.Ser32845Asn)
c.95876G>A (p.Ser31959Asn)
c.95795G>A (p.Ser31932Asn)
c.77558G>A (p.Ser25853Asn)
c.67412G>A (p.Ser22471Asn)
2g.178531953T>ACA349411197TTN,TTN-AS1c.96958A>T (p.Ser32320Cys)
c.78043A>T (p.Ser26015Cys)
c.77842A>T (p.Ser25948Cys)
c.77467A>T (p.Ser25823Cys)
c.104662A>T (p.Ser34888Cys)
c.99739A>T (p.Ser33247Cys)
n.446+8317T>A
n.220-3779T>A
c.103759A>T (p.Ser34587Cys)
c.77653A>T (p.Ser25885Cys)
c.77512A>T (p.Ser25838Cys)
c.103555A>T (p.Ser34519Cys)
c.98953A>T (p.Ser32985Cys)
c.98950A>T (p.Ser32984Cys)
c.95992A>T (p.Ser31998Cys)
c.77608A>T (p.Ser25870Cys)
c.99103A>T (p.Ser33035Cys)
c.99100A>T (p.Ser33034Cys)
c.98533A>T (p.Ser32845Cys)
c.95875A>T (p.Ser31959Cys)
c.95794A>T (p.Ser31932Cys)
c.77557A>T (p.Ser25853Cys)
c.67411A>T (p.Ser22471Cys)
2g.178531953T>CCA349411198TTN,TTN-AS1c.96958A>G (p.Ser32320Gly)
c.78043A>G (p.Ser26015Gly)
c.77842A>G (p.Ser25948Gly)
c.77467A>G (p.Ser25823Gly)
c.104662A>G (p.Ser34888Gly)
c.99739A>G (p.Ser33247Gly)
n.446+8317T>C
n.220-3779T>C
c.103759A>G (p.Ser34587Gly)
c.77653A>G (p.Ser25885Gly)
c.77512A>G (p.Ser25838Gly)
c.103555A>G (p.Ser34519Gly)
c.98953A>G (p.Ser32985Gly)
c.98950A>G (p.Ser32984Gly)
c.95992A>G (p.Ser31998Gly)
c.77608A>G (p.Ser25870Gly)
c.99103A>G (p.Ser33035Gly)
c.99100A>G (p.Ser33034Gly)
c.98533A>G (p.Ser32845Gly)
c.95875A>G (p.Ser31959Gly)
c.95794A>G (p.Ser31932Gly)
c.77557A>G (p.Ser25853Gly)
c.67411A>G (p.Ser22471Gly)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531953T>GCA349411199TTN,TTN-AS1c.96958A>C (p.Ser32320Arg)
c.78043A>C (p.Ser26015Arg)
c.77842A>C (p.Ser25948Arg)
c.77467A>C (p.Ser25823Arg)
c.104662A>C (p.Ser34888Arg)
c.99739A>C (p.Ser33247Arg)
n.446+8317T>G
n.220-3779T>G
c.103759A>C (p.Ser34587Arg)
c.77653A>C (p.Ser25885Arg)
c.77512A>C (p.Ser25838Arg)
c.103555A>C (p.Ser34519Arg)
c.98953A>C (p.Ser32985Arg)
c.98950A>C (p.Ser32984Arg)
c.95992A>C (p.Ser31998Arg)
c.77608A>C (p.Ser25870Arg)
c.99103A>C (p.Ser33035Arg)
c.99100A>C (p.Ser33034Arg)
c.98533A>C (p.Ser32845Arg)
c.95875A>C (p.Ser31959Arg)
c.95794A>C (p.Ser31932Arg)
c.77557A>C (p.Ser25853Arg)
c.67411A>C (p.Ser22471Arg)
2g.178531954G>ACA430235713TTN,TTN-AS1c.96957C>T (p.Pro32319=)
c.78042C>T (p.Pro26014=)
c.77841C>T (p.Pro25947=)
c.77466C>T (p.Pro25822=)
c.104661C>T (p.Pro34887=)
c.99738C>T (p.Pro33246=)
n.446+8318G>A
n.220-3778G>A
c.103758C>T (p.Pro34586=)
c.77652C>T (p.Pro25884=)
c.77511C>T (p.Pro25837=)
c.103554C>T (p.Pro34518=)
c.98952C>T (p.Pro32984=)
c.98949C>T (p.Pro32983=)
c.95991C>T (p.Pro31997=)
c.77607C>T (p.Pro25869=)
c.99102C>T (p.Pro33034=)
c.99099C>T (p.Pro33033=)
c.98532C>T (p.Pro32844=)
c.95874C>T (p.Pro31958=)
c.95793C>T (p.Pro31931=)
c.77556C>T (p.Pro25852=)
c.67410C>T (p.Pro22470=)
 gnomAD v4
2g.178531954G>CCA430235709TTN,TTN-AS1c.96957C>G (p.Pro32319=)
c.78042C>G (p.Pro26014=)
c.77841C>G (p.Pro25947=)
c.77466C>G (p.Pro25822=)
c.104661C>G (p.Pro34887=)
c.99738C>G (p.Pro33246=)
n.446+8318G>C
n.220-3778G>C
c.103758C>G (p.Pro34586=)
c.77652C>G (p.Pro25884=)
c.77511C>G (p.Pro25837=)
c.103554C>G (p.Pro34518=)
c.98952C>G (p.Pro32984=)
c.98949C>G (p.Pro32983=)
c.95991C>G (p.Pro31997=)
c.77607C>G (p.Pro25869=)
c.99102C>G (p.Pro33034=)
c.99099C>G (p.Pro33033=)
c.98532C>G (p.Pro32844=)
c.95874C>G (p.Pro31958=)
c.95793C>G (p.Pro31931=)
c.77556C>G (p.Pro25852=)
c.67410C>G (p.Pro22470=)
2g.178531954G>TCA430235711TTN,TTN-AS1c.96957C>A (p.Pro32319=)
c.78042C>A (p.Pro26014=)
c.77841C>A (p.Pro25947=)
c.77466C>A (p.Pro25822=)
c.104661C>A (p.Pro34887=)
c.99738C>A (p.Pro33246=)
n.446+8318G>T
n.220-3778G>T
c.103758C>A (p.Pro34586=)
c.77652C>A (p.Pro25884=)
c.77511C>A (p.Pro25837=)
c.103554C>A (p.Pro34518=)
c.98952C>A (p.Pro32984=)
c.98949C>A (p.Pro32983=)
c.95991C>A (p.Pro31997=)
c.77607C>A (p.Pro25869=)
c.99102C>A (p.Pro33034=)
c.99099C>A (p.Pro33033=)
c.98532C>A (p.Pro32844=)
c.95874C>A (p.Pro31958=)
c.95793C>A (p.Pro31931=)
c.77556C>A (p.Pro25852=)
c.67410C>A (p.Pro22470=)
2g.178531955G>ACA243696TTN,TTN-AS1c.96956C>T (p.Pro32319Leu)
c.78041C>T (p.Pro26014Leu)
c.77840C>T (p.Pro25947Leu)
c.77465C>T (p.Pro25822Leu)
c.104660C>T (p.Pro34887Leu)
c.99737C>T (p.Pro33246Leu)
n.446+8319G>A
n.220-3777G>A
c.103757C>T (p.Pro34586Leu)
c.77651C>T (p.Pro25884Leu)
c.77510C>T (p.Pro25837Leu)
c.103553C>T (p.Pro34518Leu)
c.98951C>T (p.Pro32984Leu)
c.98948C>T (p.Pro32983Leu)
c.95990C>T (p.Pro31997Leu)
c.77606C>T (p.Pro25869Leu)
c.99101C>T (p.Pro33034Leu)
c.99098C>T (p.Pro33033Leu)
c.98531C>T (p.Pro32844Leu)
c.95873C>T (p.Pro31958Leu)
c.95792C>T (p.Pro31931Leu)
c.77555C>T (p.Pro25852Leu)
c.67409C>T (p.Pro22470Leu)
 ClinVar dbSNP ExAC gnomAD v4
2g.178531955G>CCA349411200TTN,TTN-AS1c.96956C>G (p.Pro32319Arg)
c.78041C>G (p.Pro26014Arg)
c.77840C>G (p.Pro25947Arg)
c.77465C>G (p.Pro25822Arg)
c.104660C>G (p.Pro34887Arg)
c.99737C>G (p.Pro33246Arg)
n.446+8319G>C
n.220-3777G>C
c.103757C>G (p.Pro34586Arg)
c.77651C>G (p.Pro25884Arg)
c.77510C>G (p.Pro25837Arg)
c.103553C>G (p.Pro34518Arg)
c.98951C>G (p.Pro32984Arg)
c.98948C>G (p.Pro32983Arg)
c.95990C>G (p.Pro31997Arg)
c.77606C>G (p.Pro25869Arg)
c.99101C>G (p.Pro33034Arg)
c.99098C>G (p.Pro33033Arg)
c.98531C>G (p.Pro32844Arg)
c.95873C>G (p.Pro31958Arg)
c.95792C>G (p.Pro31931Arg)
c.77555C>G (p.Pro25852Arg)
c.67409C>G (p.Pro22470Arg)
2g.178531955G=CA1310518006TTN,TTN-AS1c.96956C= (p.Pro32319=)
c.78041C= (p.Pro26014=)
c.77840C= (p.Pro25947=)
c.77465C= (p.Pro25822=)
c.104660C= (p.Pro34887=)
c.99737C= (p.Pro33246=)
n.446+8319G=
n.220-3777G=
c.103757C= (p.Pro34586=)
c.77651C= (p.Pro25884=)
c.77510C= (p.Pro25837=)
c.103553C= (p.Pro34518=)
c.98951C= (p.Pro32984=)
c.98948C= (p.Pro32983=)
c.95990C= (p.Pro31997=)
c.77606C= (p.Pro25869=)
c.99101C= (p.Pro33034=)
c.99098C= (p.Pro33033=)
c.98531C= (p.Pro32844=)
c.95873C= (p.Pro31958=)
c.95792C= (p.Pro31931=)
c.77555C= (p.Pro25852=)
c.67409C= (p.Pro22470=)
2g.178531955G>TCA349411201TTN,TTN-AS1c.96956C>A (p.Pro32319His)
c.78041C>A (p.Pro26014His)
c.77840C>A (p.Pro25947His)
c.77465C>A (p.Pro25822His)
c.104660C>A (p.Pro34887His)
c.99737C>A (p.Pro33246His)
n.446+8319G>T
n.220-3777G>T
c.103757C>A (p.Pro34586His)
c.77651C>A (p.Pro25884His)
c.77510C>A (p.Pro25837His)
c.103553C>A (p.Pro34518His)
c.98951C>A (p.Pro32984His)
c.98948C>A (p.Pro32983His)
c.95990C>A (p.Pro31997His)
c.77606C>A (p.Pro25869His)
c.99101C>A (p.Pro33034His)
c.99098C>A (p.Pro33033His)
c.98531C>A (p.Pro32844His)
c.95873C>A (p.Pro31958His)
c.95792C>A (p.Pro31931His)
c.77555C>A (p.Pro25852His)
c.67409C>A (p.Pro22470His)
 dbSNP gnomAD v2 gnomAD v4
2g.178531956G>ACA349411202TTN,TTN-AS1c.96955C>T (p.Pro32319Ser)
c.78040C>T (p.Pro26014Ser)
c.77839C>T (p.Pro25947Ser)
c.77464C>T (p.Pro25822Ser)
c.104659C>T (p.Pro34887Ser)
c.99736C>T (p.Pro33246Ser)
n.446+8320G>A
n.220-3776G>A
c.103756C>T (p.Pro34586Ser)
c.77650C>T (p.Pro25884Ser)
c.77509C>T (p.Pro25837Ser)
c.103552C>T (p.Pro34518Ser)
c.98950C>T (p.Pro32984Ser)
c.98947C>T (p.Pro32983Ser)
c.95989C>T (p.Pro31997Ser)
c.77605C>T (p.Pro25869Ser)
c.99100C>T (p.Pro33034Ser)
c.99097C>T (p.Pro33033Ser)
c.98530C>T (p.Pro32844Ser)
c.95872C>T (p.Pro31958Ser)
c.95791C>T (p.Pro31931Ser)
c.77554C>T (p.Pro25852Ser)
c.67408C>T (p.Pro22470Ser)
 ClinVar dbSNP gnomAD v4
2g.178531956G>CCA349411203TTN,TTN-AS1c.96955C>G (p.Pro32319Ala)
c.78040C>G (p.Pro26014Ala)
c.77839C>G (p.Pro25947Ala)
c.77464C>G (p.Pro25822Ala)
c.104659C>G (p.Pro34887Ala)
c.99736C>G (p.Pro33246Ala)
n.446+8320G>C
n.220-3776G>C
c.103756C>G (p.Pro34586Ala)
c.77650C>G (p.Pro25884Ala)
c.77509C>G (p.Pro25837Ala)
c.103552C>G (p.Pro34518Ala)
c.98950C>G (p.Pro32984Ala)
c.98947C>G (p.Pro32983Ala)
c.95989C>G (p.Pro31997Ala)
c.77605C>G (p.Pro25869Ala)
c.99100C>G (p.Pro33034Ala)
c.99097C>G (p.Pro33033Ala)
c.98530C>G (p.Pro32844Ala)
c.95872C>G (p.Pro31958Ala)
c.95791C>G (p.Pro31931Ala)
c.77554C>G (p.Pro25852Ala)
c.67408C>G (p.Pro22470Ala)
2g.178531956G=CA1310518007TTN,TTN-AS1c.96955C= (p.Pro32319=)
c.78040C= (p.Pro26014=)
c.77839C= (p.Pro25947=)
c.77464C= (p.Pro25822=)
c.104659C= (p.Pro34887=)
c.99736C= (p.Pro33246=)
n.446+8320G=
n.220-3776G=
c.103756C= (p.Pro34586=)
c.77650C= (p.Pro25884=)
c.77509C= (p.Pro25837=)
c.103552C= (p.Pro34518=)
c.98950C= (p.Pro32984=)
c.98947C= (p.Pro32983=)
c.95989C= (p.Pro31997=)
c.77605C= (p.Pro25869=)
c.99100C= (p.Pro33034=)
c.99097C= (p.Pro33033=)
c.98530C= (p.Pro32844=)
c.95872C= (p.Pro31958=)
c.95791C= (p.Pro31931=)
c.77554C= (p.Pro25852=)
c.67408C= (p.Pro22470=)
2g.178531956G>TCA349411204TTN,TTN-AS1c.96955C>A (p.Pro32319Thr)
c.78040C>A (p.Pro26014Thr)
c.77839C>A (p.Pro25947Thr)
c.77464C>A (p.Pro25822Thr)
c.104659C>A (p.Pro34887Thr)
c.99736C>A (p.Pro33246Thr)
n.446+8320G>T
n.220-3776G>T
c.103756C>A (p.Pro34586Thr)
c.77650C>A (p.Pro25884Thr)
c.77509C>A (p.Pro25837Thr)
c.103552C>A (p.Pro34518Thr)
c.98950C>A (p.Pro32984Thr)
c.98947C>A (p.Pro32983Thr)
c.95989C>A (p.Pro31997Thr)
c.77605C>A (p.Pro25869Thr)
c.99100C>A (p.Pro33034Thr)
c.99097C>A (p.Pro33033Thr)
c.98530C>A (p.Pro32844Thr)
c.95872C>A (p.Pro31958Thr)
c.95791C>A (p.Pro31931Thr)
c.77554C>A (p.Pro25852Thr)
c.67408C>A (p.Pro22470Thr)
 gnomAD v4
2g.178531957G>ACA430235716TTN,TTN-AS1c.96954C>T (p.Ser32318=)
c.78039C>T (p.Ser26013=)
c.77838C>T (p.Ser25946=)
c.77463C>T (p.Ser25821=)
c.104658C>T (p.Ser34886=)
c.99735C>T (p.Ser33245=)
n.446+8321G>A
n.220-3775G>A
c.103755C>T (p.Ser34585=)
c.77649C>T (p.Ser25883=)
c.77508C>T (p.Ser25836=)
c.103551C>T (p.Ser34517=)
c.98949C>T (p.Ser32983=)
c.98946C>T (p.Ser32982=)
c.95988C>T (p.Ser31996=)
c.77604C>T (p.Ser25868=)
c.99099C>T (p.Ser33033=)
c.99096C>T (p.Ser33032=)
c.98529C>T (p.Ser32843=)
c.95871C>T (p.Ser31957=)
c.95790C>T (p.Ser31930=)
c.77553C>T (p.Ser25851=)
c.67407C>T (p.Ser22469=)
 gnomAD v4
2g.178531957G>CCA430235718TTN,TTN-AS1c.96954C>G (p.Ser32318=)
c.78039C>G (p.Ser26013=)
c.77838C>G (p.Ser25946=)
c.77463C>G (p.Ser25821=)
c.104658C>G (p.Ser34886=)
c.99735C>G (p.Ser33245=)
n.446+8321G>C
n.220-3775G>C
c.103755C>G (p.Ser34585=)
c.77649C>G (p.Ser25883=)
c.77508C>G (p.Ser25836=)
c.103551C>G (p.Ser34517=)
c.98949C>G (p.Ser32983=)
c.98946C>G (p.Ser32982=)
c.95988C>G (p.Ser31996=)
c.77604C>G (p.Ser25868=)
c.99099C>G (p.Ser33033=)
c.99096C>G (p.Ser33032=)
c.98529C>G (p.Ser32843=)
c.95871C>G (p.Ser31957=)
c.95790C>G (p.Ser31930=)
c.77553C>G (p.Ser25851=)
c.67407C>G (p.Ser22469=)
2g.178531957G>TCA430235719TTN,TTN-AS1c.96954C>A (p.Ser32318=)
c.78039C>A (p.Ser26013=)
c.77838C>A (p.Ser25946=)
c.77463C>A (p.Ser25821=)
c.104658C>A (p.Ser34886=)
c.99735C>A (p.Ser33245=)
n.446+8321G>T
n.220-3775G>T
c.103755C>A (p.Ser34585=)
c.77649C>A (p.Ser25883=)
c.77508C>A (p.Ser25836=)
c.103551C>A (p.Ser34517=)
c.98949C>A (p.Ser32983=)
c.98946C>A (p.Ser32982=)
c.95988C>A (p.Ser31996=)
c.77604C>A (p.Ser25868=)
c.99099C>A (p.Ser33033=)
c.99096C>A (p.Ser33032=)
c.98529C>A (p.Ser32843=)
c.95871C>A (p.Ser31957=)
c.95790C>A (p.Ser31930=)
c.77553C>A (p.Ser25851=)
c.67407C>A (p.Ser22469=)
 gnomAD v4
2g.178531957_178531958delinsAACA645515423TTN,TTN-AS1c.96953_96954delinsTT (p.Ser32318Phe)
c.78038_78039delinsTT (p.Ser26013Phe)
c.77837_77838delinsTT (p.Ser25946Phe)
c.77462_77463delinsTT (p.Ser25821Phe)
c.104657_104658delinsTT (p.Ser34886Phe)
c.99734_99735delinsTT (p.Ser33245Phe)
n.446+8321_446+8322delinsAA
n.220-3775_220-3774delinsAA
c.103754_103755delinsTT (p.Ser34585Phe)
c.77648_77649delinsTT (p.Ser25883Phe)
c.77507_77508delinsTT (p.Ser25836Phe)
c.103550_103551delinsTT (p.Ser34517Phe)
c.98948_98949delinsTT (p.Ser32983Phe)
c.98945_98946delinsTT (p.Ser32982Phe)
c.95987_95988delinsTT (p.Ser31996Phe)
c.77603_77604delinsTT (p.Ser25868Phe)
c.99098_99099delinsTT (p.Ser33033Phe)
c.99095_99096delinsTT (p.Ser33032Phe)
c.98528_98529delinsTT (p.Ser32843Phe)
c.95870_95871delinsTT (p.Ser31957Phe)
c.95789_95790delinsTT (p.Ser31930Phe)
c.77552_77553delinsTT (p.Ser25851Phe)
c.67406_67407delinsTT (p.Ser22469Phe)
 COSMIC COSMIC COSMIC COSMIC
2g.178531958G>ACA349411205TTN,TTN-AS1c.96953C>T (p.Ser32318Phe)
c.78038C>T (p.Ser26013Phe)
c.77837C>T (p.Ser25946Phe)
c.77462C>T (p.Ser25821Phe)
c.104657C>T (p.Ser34886Phe)
c.99734C>T (p.Ser33245Phe)
n.446+8322G>A
n.220-3774G>A
c.103754C>T (p.Ser34585Phe)
c.77648C>T (p.Ser25883Phe)
c.77507C>T (p.Ser25836Phe)
c.103550C>T (p.Ser34517Phe)
c.98948C>T (p.Ser32983Phe)
c.98945C>T (p.Ser32982Phe)
c.95987C>T (p.Ser31996Phe)
c.77603C>T (p.Ser25868Phe)
c.99098C>T (p.Ser33033Phe)
c.99095C>T (p.Ser33032Phe)
c.98528C>T (p.Ser32843Phe)
c.95870C>T (p.Ser31957Phe)
c.95789C>T (p.Ser31930Phe)
c.77552C>T (p.Ser25851Phe)
c.67406C>T (p.Ser22469Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531958G>CCA349411206TTN,TTN-AS1c.96953C>G (p.Ser32318Cys)
c.78038C>G (p.Ser26013Cys)
c.77837C>G (p.Ser25946Cys)
c.77462C>G (p.Ser25821Cys)
c.104657C>G (p.Ser34886Cys)
c.99734C>G (p.Ser33245Cys)
n.446+8322G>C
n.220-3774G>C
c.103754C>G (p.Ser34585Cys)
c.77648C>G (p.Ser25883Cys)
c.77507C>G (p.Ser25836Cys)
c.103550C>G (p.Ser34517Cys)
c.98948C>G (p.Ser32983Cys)
c.98945C>G (p.Ser32982Cys)
c.95987C>G (p.Ser31996Cys)
c.77603C>G (p.Ser25868Cys)
c.99098C>G (p.Ser33033Cys)
c.99095C>G (p.Ser33032Cys)
c.98528C>G (p.Ser32843Cys)
c.95870C>G (p.Ser31957Cys)
c.95789C>G (p.Ser31930Cys)
c.77552C>G (p.Ser25851Cys)
c.67406C>G (p.Ser22469Cys)
2g.178531958G=CA1310518008TTN,TTN-AS1c.96953C= (p.Ser32318=)
c.78038C= (p.Ser26013=)
c.77837C= (p.Ser25946=)
c.77462C= (p.Ser25821=)
c.104657C= (p.Ser34886=)
c.99734C= (p.Ser33245=)
n.446+8322G=
n.220-3774G=
c.103754C= (p.Ser34585=)
c.77648C= (p.Ser25883=)
c.77507C= (p.Ser25836=)
c.103550C= (p.Ser34517=)
c.98948C= (p.Ser32983=)
c.98945C= (p.Ser32982=)
c.95987C= (p.Ser31996=)
c.77603C= (p.Ser25868=)
c.99098C= (p.Ser33033=)
c.99095C= (p.Ser33032=)
c.98528C= (p.Ser32843=)
c.95870C= (p.Ser31957=)
c.95789C= (p.Ser31930=)
c.77552C= (p.Ser25851=)
c.67406C= (p.Ser22469=)
2g.178531958G>TCA349411207TTN,TTN-AS1c.96953C>A (p.Ser32318Tyr)
c.78038C>A (p.Ser26013Tyr)
c.77837C>A (p.Ser25946Tyr)
c.77462C>A (p.Ser25821Tyr)
c.104657C>A (p.Ser34886Tyr)
c.99734C>A (p.Ser33245Tyr)
n.446+8322G>T
n.220-3774G>T
c.103754C>A (p.Ser34585Tyr)
c.77648C>A (p.Ser25883Tyr)
c.77507C>A (p.Ser25836Tyr)
c.103550C>A (p.Ser34517Tyr)
c.98948C>A (p.Ser32983Tyr)
c.98945C>A (p.Ser32982Tyr)
c.95987C>A (p.Ser31996Tyr)
c.77603C>A (p.Ser25868Tyr)
c.99098C>A (p.Ser33033Tyr)
c.99095C>A (p.Ser33032Tyr)
c.98528C>A (p.Ser32843Tyr)
c.95870C>A (p.Ser31957Tyr)
c.95789C>A (p.Ser31930Tyr)
c.77552C>A (p.Ser25851Tyr)
c.67406C>A (p.Ser22469Tyr)
2g.178531959A>CCA349411208TTN,TTN-AS1c.96952T>G (p.Ser32318Ala)
c.78037T>G (p.Ser26013Ala)
c.77836T>G (p.Ser25946Ala)
c.77461T>G (p.Ser25821Ala)
c.104656T>G (p.Ser34886Ala)
c.99733T>G (p.Ser33245Ala)
n.446+8323A>C
n.220-3773A>C
c.103753T>G (p.Ser34585Ala)
c.77647T>G (p.Ser25883Ala)
c.77506T>G (p.Ser25836Ala)
c.103549T>G (p.Ser34517Ala)
c.98947T>G (p.Ser32983Ala)
c.98944T>G (p.Ser32982Ala)
c.95986T>G (p.Ser31996Ala)
c.77602T>G (p.Ser25868Ala)
c.99097T>G (p.Ser33033Ala)
c.99094T>G (p.Ser33032Ala)
c.98527T>G (p.Ser32843Ala)
c.95869T>G (p.Ser31957Ala)
c.95788T>G (p.Ser31930Ala)
c.77551T>G (p.Ser25851Ala)
c.67405T>G (p.Ser22469Ala)
2g.178531959A>GCA349411210TTN,TTN-AS1c.96952T>C (p.Ser32318Pro)
c.78037T>C (p.Ser26013Pro)
c.77836T>C (p.Ser25946Pro)
c.77461T>C (p.Ser25821Pro)
c.104656T>C (p.Ser34886Pro)
c.99733T>C (p.Ser33245Pro)
n.446+8323A>G
n.220-3773A>G
c.103753T>C (p.Ser34585Pro)
c.77647T>C (p.Ser25883Pro)
c.77506T>C (p.Ser25836Pro)
c.103549T>C (p.Ser34517Pro)
c.98947T>C (p.Ser32983Pro)
c.98944T>C (p.Ser32982Pro)
c.95986T>C (p.Ser31996Pro)
c.77602T>C (p.Ser25868Pro)
c.99097T>C (p.Ser33033Pro)
c.99094T>C (p.Ser33032Pro)
c.98527T>C (p.Ser32843Pro)
c.95869T>C (p.Ser31957Pro)
c.95788T>C (p.Ser31930Pro)
c.77551T>C (p.Ser25851Pro)
c.67405T>C (p.Ser22469Pro)
 COSMIC COSMIC COSMIC COSMIC
2g.178531959A>TCA349411209TTN,TTN-AS1c.96952T>A (p.Ser32318Thr)
c.78037T>A (p.Ser26013Thr)
c.77836T>A (p.Ser25946Thr)
c.77461T>A (p.Ser25821Thr)
c.104656T>A (p.Ser34886Thr)
c.99733T>A (p.Ser33245Thr)
n.446+8323A>T
n.220-3773A>T
c.103753T>A (p.Ser34585Thr)
c.77647T>A (p.Ser25883Thr)
c.77506T>A (p.Ser25836Thr)
c.103549T>A (p.Ser34517Thr)
c.98947T>A (p.Ser32983Thr)
c.98944T>A (p.Ser32982Thr)
c.95986T>A (p.Ser31996Thr)
c.77602T>A (p.Ser25868Thr)
c.99097T>A (p.Ser33033Thr)
c.99094T>A (p.Ser33032Thr)
c.98527T>A (p.Ser32843Thr)
c.95869T>A (p.Ser31957Thr)
c.95788T>A (p.Ser31930Thr)
c.77551T>A (p.Ser25851Thr)
c.67405T>A (p.Ser22469Thr)
2g.178531960T>ACA430235725TTN,TTN-AS1c.96951A>T (p.Arg32317=)
c.78036A>T (p.Arg26012=)
c.77835A>T (p.Arg25945=)
c.77460A>T (p.Arg25820=)
c.104655A>T (p.Arg34885=)
c.99732A>T (p.Arg33244=)
n.446+8324T>A
n.220-3772T>A
c.103752A>T (p.Arg34584=)
c.77646A>T (p.Arg25882=)
c.77505A>T (p.Arg25835=)
c.103548A>T (p.Arg34516=)
c.98946A>T (p.Arg32982=)
c.98943A>T (p.Arg32981=)
c.95985A>T (p.Arg31995=)
c.77601A>T (p.Arg25867=)
c.99096A>T (p.Arg33032=)
c.99093A>T (p.Arg33031=)
c.98526A>T (p.Arg32842=)
c.95868A>T (p.Arg31956=)
c.95787A>T (p.Arg31929=)
c.77550A>T (p.Arg25850=)
c.67404A>T (p.Arg22468=)
2g.178531960T>CCA430235728TTN,TTN-AS1c.96951A>G (p.Arg32317=)
c.78036A>G (p.Arg26012=)
c.77835A>G (p.Arg25945=)
c.77460A>G (p.Arg25820=)
c.104655A>G (p.Arg34885=)
c.99732A>G (p.Arg33244=)
n.446+8324T>C
n.220-3772T>C
c.103752A>G (p.Arg34584=)
c.77646A>G (p.Arg25882=)
c.77505A>G (p.Arg25835=)
c.103548A>G (p.Arg34516=)
c.98946A>G (p.Arg32982=)
c.98943A>G (p.Arg32981=)
c.95985A>G (p.Arg31995=)
c.77601A>G (p.Arg25867=)
c.99096A>G (p.Arg33032=)
c.99093A>G (p.Arg33031=)
c.98526A>G (p.Arg32842=)
c.95868A>G (p.Arg31956=)
c.95787A>G (p.Arg31929=)
c.77550A>G (p.Arg25850=)
c.67404A>G (p.Arg22468=)
2g.178531960T>GCA430235726TTN,TTN-AS1c.96951A>C (p.Arg32317=)
c.78036A>C (p.Arg26012=)
c.77835A>C (p.Arg25945=)
c.77460A>C (p.Arg25820=)
c.104655A>C (p.Arg34885=)
c.99732A>C (p.Arg33244=)
n.446+8324T>G
n.220-3772T>G
c.103752A>C (p.Arg34584=)
c.77646A>C (p.Arg25882=)
c.77505A>C (p.Arg25835=)
c.103548A>C (p.Arg34516=)
c.98946A>C (p.Arg32982=)
c.98943A>C (p.Arg32981=)
c.95985A>C (p.Arg31995=)
c.77601A>C (p.Arg25867=)
c.99096A>C (p.Arg33032=)
c.99093A>C (p.Arg33031=)
c.98526A>C (p.Arg32842=)
c.95868A>C (p.Arg31956=)
c.95787A>C (p.Arg31929=)
c.77550A>C (p.Arg25850=)
c.67404A>C (p.Arg22468=)
2g.178531961C>ACA349411211TTN,TTN-AS1c.96950G>T (p.Arg32317Leu)
c.78035G>T (p.Arg26012Leu)
c.77834G>T (p.Arg25945Leu)
c.77459G>T (p.Arg25820Leu)
c.104654G>T (p.Arg34885Leu)
c.99731G>T (p.Arg33244Leu)
n.446+8325C>A
n.220-3771C>A
c.103751G>T (p.Arg34584Leu)
c.77645G>T (p.Arg25882Leu)
c.77504G>T (p.Arg25835Leu)
c.103547G>T (p.Arg34516Leu)
c.98945G>T (p.Arg32982Leu)
c.98942G>T (p.Arg32981Leu)
c.95984G>T (p.Arg31995Leu)
c.77600G>T (p.Arg25867Leu)
c.99095G>T (p.Arg33032Leu)
c.99092G>T (p.Arg33031Leu)
c.98525G>T (p.Arg32842Leu)
c.95867G>T (p.Arg31956Leu)
c.95786G>T (p.Arg31929Leu)
c.77549G>T (p.Arg25850Leu)
c.67403G>T (p.Arg22468Leu)
2g.178531961C=CA1310518009TTN,TTN-AS1c.96950G= (p.Arg32317=)
c.78035G= (p.Arg26012=)
c.77834G= (p.Arg25945=)
c.77459G= (p.Arg25820=)
c.104654G= (p.Arg34885=)
c.99731G= (p.Arg33244=)
n.446+8325C=
n.220-3771C=
c.103751G= (p.Arg34584=)
c.77645G= (p.Arg25882=)
c.77504G= (p.Arg25835=)
c.103547G= (p.Arg34516=)
c.98945G= (p.Arg32982=)
c.98942G= (p.Arg32981=)
c.95984G= (p.Arg31995=)
c.77600G= (p.Arg25867=)
c.99095G= (p.Arg33032=)
c.99092G= (p.Arg33031=)
c.98525G= (p.Arg32842=)
c.95867G= (p.Arg31956=)
c.95786G= (p.Arg31929=)
c.77549G= (p.Arg25850=)
c.67403G= (p.Arg22468=)
2g.178531961C>GCA349411212TTN,TTN-AS1c.96950G>C (p.Arg32317Pro)
c.78035G>C (p.Arg26012Pro)
c.77834G>C (p.Arg25945Pro)
c.77459G>C (p.Arg25820Pro)
c.104654G>C (p.Arg34885Pro)
c.99731G>C (p.Arg33244Pro)
n.446+8325C>G
n.220-3771C>G
c.103751G>C (p.Arg34584Pro)
c.77645G>C (p.Arg25882Pro)
c.77504G>C (p.Arg25835Pro)
c.103547G>C (p.Arg34516Pro)
c.98945G>C (p.Arg32982Pro)
c.98942G>C (p.Arg32981Pro)
c.95984G>C (p.Arg31995Pro)
c.77600G>C (p.Arg25867Pro)
c.99095G>C (p.Arg33032Pro)
c.99092G>C (p.Arg33031Pro)
c.98525G>C (p.Arg32842Pro)
c.95867G>C (p.Arg31956Pro)
c.95786G>C (p.Arg31929Pro)
c.77549G>C (p.Arg25850Pro)
c.67403G>C (p.Arg22468Pro)
 gnomAD v4
2g.178531961C>TCA60956039TTN,TTN-AS1c.96950G>A (p.Arg32317Gln)
c.78035G>A (p.Arg26012Gln)
c.77834G>A (p.Arg25945Gln)
c.77459G>A (p.Arg25820Gln)
c.104654G>A (p.Arg34885Gln)
c.99731G>A (p.Arg33244Gln)
n.446+8325C>T
n.220-3771C>T
c.103751G>A (p.Arg34584Gln)
c.77645G>A (p.Arg25882Gln)
c.77504G>A (p.Arg25835Gln)
c.103547G>A (p.Arg34516Gln)
c.98945G>A (p.Arg32982Gln)
c.98942G>A (p.Arg32981Gln)
c.95984G>A (p.Arg31995Gln)
c.77600G>A (p.Arg25867Gln)
c.99095G>A (p.Arg33032Gln)
c.99092G>A (p.Arg33031Gln)
c.98525G>A (p.Arg32842Gln)
c.95867G>A (p.Arg31956Gln)
c.95786G>A (p.Arg31929Gln)
c.77549G>A (p.Arg25850Gln)
c.67403G>A (p.Arg22468Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531962G>ACA16042411TTN,TTN-AS1c.96949C>T (p.Arg32317Ter)
c.78034C>T (p.Arg26012Ter)
c.77833C>T (p.Arg25945Ter)
c.77458C>T (p.Arg25820Ter)
c.104653C>T (p.Arg34885Ter)
c.99730C>T (p.Arg33244Ter)
n.446+8326G>A
n.220-3770G>A
c.103750C>T (p.Arg34584Ter)
c.77644C>T (p.Arg25882Ter)
c.77503C>T (p.Arg25835Ter)
c.103546C>T (p.Arg34516Ter)
c.98944C>T (p.Arg32982Ter)
c.98941C>T (p.Arg32981Ter)
c.95983C>T (p.Arg31995Ter)
c.77599C>T (p.Arg25867Ter)
c.99094C>T (p.Arg33032Ter)
c.99091C>T (p.Arg33031Ter)
c.98524C>T (p.Arg32842Ter)
c.95866C>T (p.Arg31956Ter)
c.95785C>T (p.Arg31929Ter)
c.77548C>T (p.Arg25850Ter)
c.67402C>T (p.Arg22468Ter)
 ClinVar dbSNP gnomAD v4
2g.178531962G>CCA349411213TTN,TTN-AS1c.96949C>G (p.Arg32317Gly)
c.78034C>G (p.Arg26012Gly)
c.77833C>G (p.Arg25945Gly)
c.77458C>G (p.Arg25820Gly)
c.104653C>G (p.Arg34885Gly)
c.99730C>G (p.Arg33244Gly)
n.446+8326G>C
n.220-3770G>C
c.103750C>G (p.Arg34584Gly)
c.77644C>G (p.Arg25882Gly)
c.77503C>G (p.Arg25835Gly)
c.103546C>G (p.Arg34516Gly)
c.98944C>G (p.Arg32982Gly)
c.98941C>G (p.Arg32981Gly)
c.95983C>G (p.Arg31995Gly)
c.77599C>G (p.Arg25867Gly)
c.99094C>G (p.Arg33032Gly)
c.99091C>G (p.Arg33031Gly)
c.98524C>G (p.Arg32842Gly)
c.95866C>G (p.Arg31956Gly)
c.95785C>G (p.Arg31929Gly)
c.77548C>G (p.Arg25850Gly)
c.67402C>G (p.Arg22468Gly)
2g.178531962G=CA1310518010TTN,TTN-AS1c.96949C= (p.Arg32317=)
c.78034C= (p.Arg26012=)
c.77833C= (p.Arg25945=)
c.77458C= (p.Arg25820=)
c.104653C= (p.Arg34885=)
c.99730C= (p.Arg33244=)
n.446+8326G=
n.220-3770G=
c.103750C= (p.Arg34584=)
c.77644C= (p.Arg25882=)
c.77503C= (p.Arg25835=)
c.103546C= (p.Arg34516=)
c.98944C= (p.Arg32982=)
c.98941C= (p.Arg32981=)
c.95983C= (p.Arg31995=)
c.77599C= (p.Arg25867=)
c.99094C= (p.Arg33032=)
c.99091C= (p.Arg33031=)
c.98524C= (p.Arg32842=)
c.95866C= (p.Arg31956=)
c.95785C= (p.Arg31929=)
c.77548C= (p.Arg25850=)
c.67402C= (p.Arg22468=)
2g.178531962G>TCA430235737TTN,TTN-AS1c.96949C>A (p.Arg32317=)
c.78034C>A (p.Arg26012=)
c.77833C>A (p.Arg25945=)
c.77458C>A (p.Arg25820=)
c.104653C>A (p.Arg34885=)
c.99730C>A (p.Arg33244=)
n.446+8326G>T
n.220-3770G>T
c.103750C>A (p.Arg34584=)
c.77644C>A (p.Arg25882=)
c.77503C>A (p.Arg25835=)
c.103546C>A (p.Arg34516=)
c.98944C>A (p.Arg32982=)
c.98941C>A (p.Arg32981=)
c.95983C>A (p.Arg31995=)
c.77599C>A (p.Arg25867=)
c.99094C>A (p.Arg33032=)
c.99091C>A (p.Arg33031=)
c.98524C>A (p.Arg32842=)
c.95866C>A (p.Arg31956=)
c.95785C>A (p.Arg31929=)
c.77548C>A (p.Arg25850=)
c.67402C>A (p.Arg22468=)
2g.178531963T>ACA430235738TTN,TTN-AS1c.96948A>T (p.Pro32316=)
c.78033A>T (p.Pro26011=)
c.77832A>T (p.Pro25944=)
c.77457A>T (p.Pro25819=)
c.104652A>T (p.Pro34884=)
c.99729A>T (p.Pro33243=)
n.446+8327T>A
n.220-3769T>A
c.103749A>T (p.Pro34583=)
c.77643A>T (p.Pro25881=)
c.77502A>T (p.Pro25834=)
c.103545A>T (p.Pro34515=)
c.98943A>T (p.Pro32981=)
c.98940A>T (p.Pro32980=)
c.95982A>T (p.Pro31994=)
c.77598A>T (p.Pro25866=)
c.99093A>T (p.Pro33031=)
c.99090A>T (p.Pro33030=)
c.98523A>T (p.Pro32841=)
c.95865A>T (p.Pro31955=)
c.95784A>T (p.Pro31928=)
c.77547A>T (p.Pro25849=)
c.67401A>T (p.Pro22467=)
2g.178531963T>CCA430235739TTN,TTN-AS1c.96948A>G (p.Pro32316=)
c.78033A>G (p.Pro26011=)
c.77832A>G (p.Pro25944=)
c.77457A>G (p.Pro25819=)
c.104652A>G (p.Pro34884=)
c.99729A>G (p.Pro33243=)
n.446+8327T>C
n.220-3769T>C
c.103749A>G (p.Pro34583=)
c.77643A>G (p.Pro25881=)
c.77502A>G (p.Pro25834=)
c.103545A>G (p.Pro34515=)
c.98943A>G (p.Pro32981=)
c.98940A>G (p.Pro32980=)
c.95982A>G (p.Pro31994=)
c.77598A>G (p.Pro25866=)
c.99093A>G (p.Pro33031=)
c.99090A>G (p.Pro33030=)
c.98523A>G (p.Pro32841=)
c.95865A>G (p.Pro31955=)
c.95784A>G (p.Pro31928=)
c.77547A>G (p.Pro25849=)
c.67401A>G (p.Pro22467=)
2g.178531963T>GCA430235740TTN,TTN-AS1c.96948A>C (p.Pro32316=)
c.78033A>C (p.Pro26011=)
c.77832A>C (p.Pro25944=)
c.77457A>C (p.Pro25819=)
c.104652A>C (p.Pro34884=)
c.99729A>C (p.Pro33243=)
n.446+8327T>G
n.220-3769T>G
c.103749A>C (p.Pro34583=)
c.77643A>C (p.Pro25881=)
c.77502A>C (p.Pro25834=)
c.103545A>C (p.Pro34515=)
c.98943A>C (p.Pro32981=)
c.98940A>C (p.Pro32980=)
c.95982A>C (p.Pro31994=)
c.77598A>C (p.Pro25866=)
c.99093A>C (p.Pro33031=)
c.99090A>C (p.Pro33030=)
c.98523A>C (p.Pro32841=)
c.95865A>C (p.Pro31955=)
c.95784A>C (p.Pro31928=)
c.77547A>C (p.Pro25849=)
c.67401A>C (p.Pro22467=)
 gnomAD v4
2g.178531964G>ACA349411214TTN,TTN-AS1c.96947C>T (p.Pro32316Leu)
c.78032C>T (p.Pro26011Leu)
c.77831C>T (p.Pro25944Leu)
c.77456C>T (p.Pro25819Leu)
c.104651C>T (p.Pro34884Leu)
c.99728C>T (p.Pro33243Leu)
n.446+8328G>A
n.220-3768G>A
c.103748C>T (p.Pro34583Leu)
c.77642C>T (p.Pro25881Leu)
c.77501C>T (p.Pro25834Leu)
c.103544C>T (p.Pro34515Leu)
c.98942C>T (p.Pro32981Leu)
c.98939C>T (p.Pro32980Leu)
c.95981C>T (p.Pro31994Leu)
c.77597C>T (p.Pro25866Leu)
c.99092C>T (p.Pro33031Leu)
c.99089C>T (p.Pro33030Leu)
c.98522C>T (p.Pro32841Leu)
c.95864C>T (p.Pro31955Leu)
c.95783C>T (p.Pro31928Leu)
c.77546C>T (p.Pro25849Leu)
c.67400C>T (p.Pro22467Leu)
2g.178531964G>CCA349411215TTN,TTN-AS1c.96947C>G (p.Pro32316Arg)
c.78032C>G (p.Pro26011Arg)
c.77831C>G (p.Pro25944Arg)
c.77456C>G (p.Pro25819Arg)
c.104651C>G (p.Pro34884Arg)
c.99728C>G (p.Pro33243Arg)
n.446+8328G>C
n.220-3768G>C
c.103748C>G (p.Pro34583Arg)
c.77642C>G (p.Pro25881Arg)
c.77501C>G (p.Pro25834Arg)
c.103544C>G (p.Pro34515Arg)
c.98942C>G (p.Pro32981Arg)
c.98939C>G (p.Pro32980Arg)
c.95981C>G (p.Pro31994Arg)
c.77597C>G (p.Pro25866Arg)
c.99092C>G (p.Pro33031Arg)
c.99089C>G (p.Pro33030Arg)
c.98522C>G (p.Pro32841Arg)
c.95864C>G (p.Pro31955Arg)
c.95783C>G (p.Pro31928Arg)
c.77546C>G (p.Pro25849Arg)
c.67400C>G (p.Pro22467Arg)
2g.178531964G>TCA349411216TTN,TTN-AS1c.96947C>A (p.Pro32316Gln)
c.78032C>A (p.Pro26011Gln)
c.77831C>A (p.Pro25944Gln)
c.77456C>A (p.Pro25819Gln)
c.104651C>A (p.Pro34884Gln)
c.99728C>A (p.Pro33243Gln)
n.446+8328G>T
n.220-3768G>T
c.103748C>A (p.Pro34583Gln)
c.77642C>A (p.Pro25881Gln)
c.77501C>A (p.Pro25834Gln)
c.103544C>A (p.Pro34515Gln)
c.98942C>A (p.Pro32981Gln)
c.98939C>A (p.Pro32980Gln)
c.95981C>A (p.Pro31994Gln)
c.77597C>A (p.Pro25866Gln)
c.99092C>A (p.Pro33031Gln)
c.99089C>A (p.Pro33030Gln)
c.98522C>A (p.Pro32841Gln)
c.95864C>A (p.Pro31955Gln)
c.95783C>A (p.Pro31928Gln)
c.77546C>A (p.Pro25849Gln)
c.67400C>A (p.Pro22467Gln)
2g.178531966delCA2662123408TTN,TTN-AS1c.96947del (p.Pro32316HisfsTer?)
c.78032del (p.Pro26011HisfsTer?)
c.77831del (p.Pro25944HisfsTer?)
c.77456del (p.Pro25819HisfsTer?)
c.104651del (p.Pro34884HisfsTer?)
c.99728del (p.Pro33243HisfsTer?)
n.446+8330del
n.220-3766del
c.103748del (p.Pro34583HisfsTer?)
c.77642del (p.Pro25881HisfsTer?)
c.77501del (p.Pro25834HisfsTer?)
c.103544del (p.Pro34515HisfsTer?)
c.98942del (p.Pro32981HisfsTer?)
c.98939del (p.Pro32980HisfsTer?)
c.95981del (p.Pro31994HisfsTer?)
c.77597del (p.Pro25866HisfsTer?)
c.99092del (p.Pro33031HisfsTer?)
c.99089del (p.Pro33030HisfsTer?)
c.98522del (p.Pro32841HisfsTer?)
c.95864del (p.Pro31955HisfsTer?)
c.95783del (p.Pro31928HisfsTer?)
c.77546del (p.Pro25849HisfsTer?)
c.67400del (p.Pro22467HisfsTer?)
 gnomAD v4

Number of alleles fetched