Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527048G>ACA430091478TTN,TTN-AS1c.100236C>T (p.Asp33412=)
c.81321C>T (p.Asp27107=)
c.81120C>T (p.Asp27040=)
c.80745C>T (p.Asp26915=)
c.107940C>T (p.Asp35980=)
c.103017C>T (p.Asp34339=)
n.446+3412G>A
n.219+3412G>A
c.107037C>T (p.Asp35679=)
c.80931C>T (p.Asp26977=)
c.80790C>T (p.Asp26930=)
c.106833C>T (p.Asp35611=)
c.102231C>T (p.Asp34077=)
c.102228C>T (p.Asp34076=)
c.99270C>T (p.Asp33090=)
c.80886C>T (p.Asp26962=)
c.102381C>T (p.Asp34127=)
c.102378C>T (p.Asp34126=)
c.101811C>T (p.Asp33937=)
c.99153C>T (p.Asp33051=)
c.99072C>T (p.Asp33024=)
c.80835C>T (p.Asp26945=)
c.70689C>T (p.Asp23563=)
 ClinVar gnomAD v4
2g.178527048G>CCA349398210TTN,TTN-AS1c.100236C>G (p.Asp33412Glu)
c.81321C>G (p.Asp27107Glu)
c.81120C>G (p.Asp27040Glu)
c.80745C>G (p.Asp26915Glu)
c.107940C>G (p.Asp35980Glu)
c.103017C>G (p.Asp34339Glu)
n.446+3412G>C
n.219+3412G>C
c.107037C>G (p.Asp35679Glu)
c.80931C>G (p.Asp26977Glu)
c.80790C>G (p.Asp26930Glu)
c.106833C>G (p.Asp35611Glu)
c.102231C>G (p.Asp34077Glu)
c.102228C>G (p.Asp34076Glu)
c.99270C>G (p.Asp33090Glu)
c.80886C>G (p.Asp26962Glu)
c.102381C>G (p.Asp34127Glu)
c.102378C>G (p.Asp34126Glu)
c.101811C>G (p.Asp33937Glu)
c.99153C>G (p.Asp33051Glu)
c.99072C>G (p.Asp33024Glu)
c.80835C>G (p.Asp26945Glu)
c.70689C>G (p.Asp23563Glu)
2g.178527048G>TCA349398211TTN,TTN-AS1c.100236C>A (p.Asp33412Glu)
c.81321C>A (p.Asp27107Glu)
c.81120C>A (p.Asp27040Glu)
c.80745C>A (p.Asp26915Glu)
c.107940C>A (p.Asp35980Glu)
c.103017C>A (p.Asp34339Glu)
n.446+3412G>T
n.219+3412G>T
c.107037C>A (p.Asp35679Glu)
c.80931C>A (p.Asp26977Glu)
c.80790C>A (p.Asp26930Glu)
c.106833C>A (p.Asp35611Glu)
c.102231C>A (p.Asp34077Glu)
c.102228C>A (p.Asp34076Glu)
c.99270C>A (p.Asp33090Glu)
c.80886C>A (p.Asp26962Glu)
c.102381C>A (p.Asp34127Glu)
c.102378C>A (p.Asp34126Glu)
c.101811C>A (p.Asp33937Glu)
c.99153C>A (p.Asp33051Glu)
c.99072C>A (p.Asp33024Glu)
c.80835C>A (p.Asp26945Glu)
c.70689C>A (p.Asp23563Glu)
2g.178527049T>ACA349398214TTN,TTN-AS1c.100235A>T (p.Asp33412Val)
c.81320A>T (p.Asp27107Val)
c.81119A>T (p.Asp27040Val)
c.80744A>T (p.Asp26915Val)
c.107939A>T (p.Asp35980Val)
c.103016A>T (p.Asp34339Val)
n.446+3413T>A
n.219+3413T>A
c.107036A>T (p.Asp35679Val)
c.80930A>T (p.Asp26977Val)
c.80789A>T (p.Asp26930Val)
c.106832A>T (p.Asp35611Val)
c.102230A>T (p.Asp34077Val)
c.102227A>T (p.Asp34076Val)
c.99269A>T (p.Asp33090Val)
c.80885A>T (p.Asp26962Val)
c.102380A>T (p.Asp34127Val)
c.102377A>T (p.Asp34126Val)
c.101810A>T (p.Asp33937Val)
c.99152A>T (p.Asp33051Val)
c.99071A>T (p.Asp33024Val)
c.80834A>T (p.Asp26945Val)
c.70688A>T (p.Asp23563Val)
2g.178527049T>CCA349398215TTN,TTN-AS1c.100235A>G (p.Asp33412Gly)
c.81320A>G (p.Asp27107Gly)
c.81119A>G (p.Asp27040Gly)
c.80744A>G (p.Asp26915Gly)
c.107939A>G (p.Asp35980Gly)
c.103016A>G (p.Asp34339Gly)
n.446+3413T>C
n.219+3413T>C
c.107036A>G (p.Asp35679Gly)
c.80930A>G (p.Asp26977Gly)
c.80789A>G (p.Asp26930Gly)
c.106832A>G (p.Asp35611Gly)
c.102230A>G (p.Asp34077Gly)
c.102227A>G (p.Asp34076Gly)
c.99269A>G (p.Asp33090Gly)
c.80885A>G (p.Asp26962Gly)
c.102380A>G (p.Asp34127Gly)
c.102377A>G (p.Asp34126Gly)
c.101810A>G (p.Asp33937Gly)
c.99152A>G (p.Asp33051Gly)
c.99071A>G (p.Asp33024Gly)
c.80834A>G (p.Asp26945Gly)
c.70688A>G (p.Asp23563Gly)
2g.178527049T>GCA349398216TTN,TTN-AS1c.100235A>C (p.Asp33412Ala)
c.81320A>C (p.Asp27107Ala)
c.81119A>C (p.Asp27040Ala)
c.80744A>C (p.Asp26915Ala)
c.107939A>C (p.Asp35980Ala)
c.103016A>C (p.Asp34339Ala)
n.446+3413T>G
n.219+3413T>G
c.107036A>C (p.Asp35679Ala)
c.80930A>C (p.Asp26977Ala)
c.80789A>C (p.Asp26930Ala)
c.106832A>C (p.Asp35611Ala)
c.102230A>C (p.Asp34077Ala)
c.102227A>C (p.Asp34076Ala)
c.99269A>C (p.Asp33090Ala)
c.80885A>C (p.Asp26962Ala)
c.102380A>C (p.Asp34127Ala)
c.102377A>C (p.Asp34126Ala)
c.101810A>C (p.Asp33937Ala)
c.99152A>C (p.Asp33051Ala)
c.99071A>C (p.Asp33024Ala)
c.80834A>C (p.Asp26945Ala)
c.70688A>C (p.Asp23563Ala)
2g.178527050C>ACA349398218TTN,TTN-AS1c.100234G>T (p.Asp33412Tyr)
c.81319G>T (p.Asp27107Tyr)
c.81118G>T (p.Asp27040Tyr)
c.80743G>T (p.Asp26915Tyr)
c.107938G>T (p.Asp35980Tyr)
c.103015G>T (p.Asp34339Tyr)
n.446+3414C>A
n.219+3414C>A
c.107035G>T (p.Asp35679Tyr)
c.80929G>T (p.Asp26977Tyr)
c.80788G>T (p.Asp26930Tyr)
c.106831G>T (p.Asp35611Tyr)
c.102229G>T (p.Asp34077Tyr)
c.102226G>T (p.Asp34076Tyr)
c.99268G>T (p.Asp33090Tyr)
c.80884G>T (p.Asp26962Tyr)
c.102379G>T (p.Asp34127Tyr)
c.102376G>T (p.Asp34126Tyr)
c.101809G>T (p.Asp33937Tyr)
c.99151G>T (p.Asp33051Tyr)
c.99070G>T (p.Asp33024Tyr)
c.80833G>T (p.Asp26945Tyr)
c.70687G>T (p.Asp23563Tyr)
2g.178527050C>GCA349398219TTN,TTN-AS1c.100234G>C (p.Asp33412His)
c.81319G>C (p.Asp27107His)
c.81118G>C (p.Asp27040His)
c.80743G>C (p.Asp26915His)
c.107938G>C (p.Asp35980His)
c.103015G>C (p.Asp34339His)
n.446+3414C>G
n.219+3414C>G
c.107035G>C (p.Asp35679His)
c.80929G>C (p.Asp26977His)
c.80788G>C (p.Asp26930His)
c.106831G>C (p.Asp35611His)
c.102229G>C (p.Asp34077His)
c.102226G>C (p.Asp34076His)
c.99268G>C (p.Asp33090His)
c.80884G>C (p.Asp26962His)
c.102379G>C (p.Asp34127His)
c.102376G>C (p.Asp34126His)
c.101809G>C (p.Asp33937His)
c.99151G>C (p.Asp33051His)
c.99070G>C (p.Asp33024His)
c.80833G>C (p.Asp26945His)
c.70687G>C (p.Asp23563His)
 gnomAD v4
2g.178527050C>TCA349398221TTN,TTN-AS1c.100234G>A (p.Asp33412Asn)
c.81319G>A (p.Asp27107Asn)
c.81118G>A (p.Asp27040Asn)
c.80743G>A (p.Asp26915Asn)
c.107938G>A (p.Asp35980Asn)
c.103015G>A (p.Asp34339Asn)
n.446+3414C>T
n.219+3414C>T
c.107035G>A (p.Asp35679Asn)
c.80929G>A (p.Asp26977Asn)
c.80788G>A (p.Asp26930Asn)
c.106831G>A (p.Asp35611Asn)
c.102229G>A (p.Asp34077Asn)
c.102226G>A (p.Asp34076Asn)
c.99268G>A (p.Asp33090Asn)
c.80884G>A (p.Asp26962Asn)
c.102379G>A (p.Asp34127Asn)
c.102376G>A (p.Asp34126Asn)
c.101809G>A (p.Asp33937Asn)
c.99151G>A (p.Asp33051Asn)
c.99070G>A (p.Asp33024Asn)
c.80833G>A (p.Asp26945Asn)
c.70687G>A (p.Asp23563Asn)
2g.178527051A>CCA430091480TTN,TTN-AS1c.100233T>G (p.Ser33411=)
c.81318T>G (p.Ser27106=)
c.81117T>G (p.Ser27039=)
c.80742T>G (p.Ser26914=)
c.107937T>G (p.Ser35979=)
c.103014T>G (p.Ser34338=)
n.446+3415A>C
n.219+3415A>C
c.107034T>G (p.Ser35678=)
c.80928T>G (p.Ser26976=)
c.80787T>G (p.Ser26929=)
c.106830T>G (p.Ser35610=)
c.102228T>G (p.Ser34076=)
c.102225T>G (p.Ser34075=)
c.99267T>G (p.Ser33089=)
c.80883T>G (p.Ser26961=)
c.102378T>G (p.Ser34126=)
c.102375T>G (p.Ser34125=)
c.101808T>G (p.Ser33936=)
c.99150T>G (p.Ser33050=)
c.99069T>G (p.Ser33023=)
c.80832T>G (p.Ser26944=)
c.70686T>G (p.Ser23562=)
2g.178527051A>GCA430091482TTN,TTN-AS1c.100233T>C (p.Ser33411=)
c.81318T>C (p.Ser27106=)
c.81117T>C (p.Ser27039=)
c.80742T>C (p.Ser26914=)
c.107937T>C (p.Ser35979=)
c.103014T>C (p.Ser34338=)
n.446+3415A>G
n.219+3415A>G
c.107034T>C (p.Ser35678=)
c.80928T>C (p.Ser26976=)
c.80787T>C (p.Ser26929=)
c.106830T>C (p.Ser35610=)
c.102228T>C (p.Ser34076=)
c.102225T>C (p.Ser34075=)
c.99267T>C (p.Ser33089=)
c.80883T>C (p.Ser26961=)
c.102378T>C (p.Ser34126=)
c.102375T>C (p.Ser34125=)
c.101808T>C (p.Ser33936=)
c.99150T>C (p.Ser33050=)
c.99069T>C (p.Ser33023=)
c.80832T>C (p.Ser26944=)
c.70686T>C (p.Ser23562=)
2g.178527051A>TCA430091484TTN,TTN-AS1c.100233T>A (p.Ser33411=)
c.81318T>A (p.Ser27106=)
c.81117T>A (p.Ser27039=)
c.80742T>A (p.Ser26914=)
c.107937T>A (p.Ser35979=)
c.103014T>A (p.Ser34338=)
n.446+3415A>T
n.219+3415A>T
c.107034T>A (p.Ser35678=)
c.80928T>A (p.Ser26976=)
c.80787T>A (p.Ser26929=)
c.106830T>A (p.Ser35610=)
c.102228T>A (p.Ser34076=)
c.102225T>A (p.Ser34075=)
c.99267T>A (p.Ser33089=)
c.80883T>A (p.Ser26961=)
c.102378T>A (p.Ser34126=)
c.102375T>A (p.Ser34125=)
c.101808T>A (p.Ser33936=)
c.99150T>A (p.Ser33050=)
c.99069T>A (p.Ser33023=)
c.80832T>A (p.Ser26944=)
c.70686T>A (p.Ser23562=)
2g.178527052G>ACA349398224TTN,TTN-AS1c.100232C>T (p.Ser33411Phe)
c.81317C>T (p.Ser27106Phe)
c.81116C>T (p.Ser27039Phe)
c.80741C>T (p.Ser26914Phe)
c.107936C>T (p.Ser35979Phe)
c.103013C>T (p.Ser34338Phe)
n.446+3416G>A
n.219+3416G>A
c.107033C>T (p.Ser35678Phe)
c.80927C>T (p.Ser26976Phe)
c.80786C>T (p.Ser26929Phe)
c.106829C>T (p.Ser35610Phe)
c.102227C>T (p.Ser34076Phe)
c.102224C>T (p.Ser34075Phe)
c.99266C>T (p.Ser33089Phe)
c.80882C>T (p.Ser26961Phe)
c.102377C>T (p.Ser34126Phe)
c.102374C>T (p.Ser34125Phe)
c.101807C>T (p.Ser33936Phe)
c.99149C>T (p.Ser33050Phe)
c.99068C>T (p.Ser33023Phe)
c.80831C>T (p.Ser26944Phe)
c.70685C>T (p.Ser23562Phe)
2g.178527052G>CCA349398225TTN,TTN-AS1c.100232C>G (p.Ser33411Cys)
c.81317C>G (p.Ser27106Cys)
c.81116C>G (p.Ser27039Cys)
c.80741C>G (p.Ser26914Cys)
c.107936C>G (p.Ser35979Cys)
c.103013C>G (p.Ser34338Cys)
n.446+3416G>C
n.219+3416G>C
c.107033C>G (p.Ser35678Cys)
c.80927C>G (p.Ser26976Cys)
c.80786C>G (p.Ser26929Cys)
c.106829C>G (p.Ser35610Cys)
c.102227C>G (p.Ser34076Cys)
c.102224C>G (p.Ser34075Cys)
c.99266C>G (p.Ser33089Cys)
c.80882C>G (p.Ser26961Cys)
c.102377C>G (p.Ser34126Cys)
c.102374C>G (p.Ser34125Cys)
c.101807C>G (p.Ser33936Cys)
c.99149C>G (p.Ser33050Cys)
c.99068C>G (p.Ser33023Cys)
c.80831C>G (p.Ser26944Cys)
c.70685C>G (p.Ser23562Cys)
2g.178527052G>TCA349398226TTN,TTN-AS1c.100232C>A (p.Ser33411Tyr)
c.81317C>A (p.Ser27106Tyr)
c.81116C>A (p.Ser27039Tyr)
c.80741C>A (p.Ser26914Tyr)
c.107936C>A (p.Ser35979Tyr)
c.103013C>A (p.Ser34338Tyr)
n.446+3416G>T
n.219+3416G>T
c.107033C>A (p.Ser35678Tyr)
c.80927C>A (p.Ser26976Tyr)
c.80786C>A (p.Ser26929Tyr)
c.106829C>A (p.Ser35610Tyr)
c.102227C>A (p.Ser34076Tyr)
c.102224C>A (p.Ser34075Tyr)
c.99266C>A (p.Ser33089Tyr)
c.80882C>A (p.Ser26961Tyr)
c.102377C>A (p.Ser34126Tyr)
c.102374C>A (p.Ser34125Tyr)
c.101807C>A (p.Ser33936Tyr)
c.99149C>A (p.Ser33050Tyr)
c.99068C>A (p.Ser33023Tyr)
c.80831C>A (p.Ser26944Tyr)
c.70685C>A (p.Ser23562Tyr)
 gnomAD v4
2g.178527053A>CCA349398228TTN,TTN-AS1c.100231T>G (p.Ser33411Ala)
c.81316T>G (p.Ser27106Ala)
c.81115T>G (p.Ser27039Ala)
c.80740T>G (p.Ser26914Ala)
c.107935T>G (p.Ser35979Ala)
c.103012T>G (p.Ser34338Ala)
n.446+3417A>C
n.219+3417A>C
c.107032T>G (p.Ser35678Ala)
c.80926T>G (p.Ser26976Ala)
c.80785T>G (p.Ser26929Ala)
c.106828T>G (p.Ser35610Ala)
c.102226T>G (p.Ser34076Ala)
c.102223T>G (p.Ser34075Ala)
c.99265T>G (p.Ser33089Ala)
c.80881T>G (p.Ser26961Ala)
c.102376T>G (p.Ser34126Ala)
c.102373T>G (p.Ser34125Ala)
c.101806T>G (p.Ser33936Ala)
c.99148T>G (p.Ser33050Ala)
c.99067T>G (p.Ser33023Ala)
c.80830T>G (p.Ser26944Ala)
c.70684T>G (p.Ser23562Ala)
2g.178527053A>GCA349398229TTN,TTN-AS1c.100231T>C (p.Ser33411Pro)
c.81316T>C (p.Ser27106Pro)
c.81115T>C (p.Ser27039Pro)
c.80740T>C (p.Ser26914Pro)
c.107935T>C (p.Ser35979Pro)
c.103012T>C (p.Ser34338Pro)
n.446+3417A>G
n.219+3417A>G
c.107032T>C (p.Ser35678Pro)
c.80926T>C (p.Ser26976Pro)
c.80785T>C (p.Ser26929Pro)
c.106828T>C (p.Ser35610Pro)
c.102226T>C (p.Ser34076Pro)
c.102223T>C (p.Ser34075Pro)
c.99265T>C (p.Ser33089Pro)
c.80881T>C (p.Ser26961Pro)
c.102376T>C (p.Ser34126Pro)
c.102373T>C (p.Ser34125Pro)
c.101806T>C (p.Ser33936Pro)
c.99148T>C (p.Ser33050Pro)
c.99067T>C (p.Ser33023Pro)
c.80830T>C (p.Ser26944Pro)
c.70684T>C (p.Ser23562Pro)
 gnomAD v4
2g.178527053A>TCA349398230TTN,TTN-AS1c.100231T>A (p.Ser33411Thr)
c.81316T>A (p.Ser27106Thr)
c.81115T>A (p.Ser27039Thr)
c.80740T>A (p.Ser26914Thr)
c.107935T>A (p.Ser35979Thr)
c.103012T>A (p.Ser34338Thr)
n.446+3417A>T
n.219+3417A>T
c.107032T>A (p.Ser35678Thr)
c.80926T>A (p.Ser26976Thr)
c.80785T>A (p.Ser26929Thr)
c.106828T>A (p.Ser35610Thr)
c.102226T>A (p.Ser34076Thr)
c.102223T>A (p.Ser34075Thr)
c.99265T>A (p.Ser33089Thr)
c.80881T>A (p.Ser26961Thr)
c.102376T>A (p.Ser34126Thr)
c.102373T>A (p.Ser34125Thr)
c.101806T>A (p.Ser33936Thr)
c.99148T>A (p.Ser33050Thr)
c.99067T>A (p.Ser33023Thr)
c.80830T>A (p.Ser26944Thr)
c.70684T>A (p.Ser23562Thr)
2g.178527054T>ACA430091486TTN,TTN-AS1c.100230A>T (p.Gly33410=)
c.81315A>T (p.Gly27105=)
c.81114A>T (p.Gly27038=)
c.80739A>T (p.Gly26913=)
c.107934A>T (p.Gly35978=)
c.103011A>T (p.Gly34337=)
n.446+3418T>A
n.219+3418T>A
c.107031A>T (p.Gly35677=)
c.80925A>T (p.Gly26975=)
c.80784A>T (p.Gly26928=)
c.106827A>T (p.Gly35609=)
c.102225A>T (p.Gly34075=)
c.102222A>T (p.Gly34074=)
c.99264A>T (p.Gly33088=)
c.80880A>T (p.Gly26960=)
c.102375A>T (p.Gly34125=)
c.102372A>T (p.Gly34124=)
c.101805A>T (p.Gly33935=)
c.99147A>T (p.Gly33049=)
c.99066A>T (p.Gly33022=)
c.80829A>T (p.Gly26943=)
c.70683A>T (p.Gly23561=)
 gnomAD v4
2g.178527054T>CCA430091487TTN,TTN-AS1c.100230A>G (p.Gly33410=)
c.81315A>G (p.Gly27105=)
c.81114A>G (p.Gly27038=)
c.80739A>G (p.Gly26913=)
c.107934A>G (p.Gly35978=)
c.103011A>G (p.Gly34337=)
n.446+3418T>C
n.219+3418T>C
c.107031A>G (p.Gly35677=)
c.80925A>G (p.Gly26975=)
c.80784A>G (p.Gly26928=)
c.106827A>G (p.Gly35609=)
c.102225A>G (p.Gly34075=)
c.102222A>G (p.Gly34074=)
c.99264A>G (p.Gly33088=)
c.80880A>G (p.Gly26960=)
c.102375A>G (p.Gly34125=)
c.102372A>G (p.Gly34124=)
c.101805A>G (p.Gly33935=)
c.99147A>G (p.Gly33049=)
c.99066A>G (p.Gly33022=)
c.80829A>G (p.Gly26943=)
c.70683A>G (p.Gly23561=)
2g.178527054T>GCA430091489TTN,TTN-AS1c.100230A>C (p.Gly33410=)
c.81315A>C (p.Gly27105=)
c.81114A>C (p.Gly27038=)
c.80739A>C (p.Gly26913=)
c.107934A>C (p.Gly35978=)
c.103011A>C (p.Gly34337=)
n.446+3418T>G
n.219+3418T>G
c.107031A>C (p.Gly35677=)
c.80925A>C (p.Gly26975=)
c.80784A>C (p.Gly26928=)
c.106827A>C (p.Gly35609=)
c.102225A>C (p.Gly34075=)
c.102222A>C (p.Gly34074=)
c.99264A>C (p.Gly33088=)
c.80880A>C (p.Gly26960=)
c.102375A>C (p.Gly34125=)
c.102372A>C (p.Gly34124=)
c.101805A>C (p.Gly33935=)
c.99147A>C (p.Gly33049=)
c.99066A>C (p.Gly33022=)
c.80829A>C (p.Gly26943=)
c.70683A>C (p.Gly23561=)
2g.178527055C>ACA349398233TTN,TTN-AS1c.100229G>T (p.Gly33410Val)
c.81314G>T (p.Gly27105Val)
c.81113G>T (p.Gly27038Val)
c.80738G>T (p.Gly26913Val)
c.107933G>T (p.Gly35978Val)
c.103010G>T (p.Gly34337Val)
n.446+3419C>A
n.219+3419C>A
c.107030G>T (p.Gly35677Val)
c.80924G>T (p.Gly26975Val)
c.80783G>T (p.Gly26928Val)
c.106826G>T (p.Gly35609Val)
c.102224G>T (p.Gly34075Val)
c.102221G>T (p.Gly34074Val)
c.99263G>T (p.Gly33088Val)
c.80879G>T (p.Gly26960Val)
c.102374G>T (p.Gly34125Val)
c.102371G>T (p.Gly34124Val)
c.101804G>T (p.Gly33935Val)
c.99146G>T (p.Gly33049Val)
c.99065G>T (p.Gly33022Val)
c.80828G>T (p.Gly26943Val)
c.70682G>T (p.Gly23561Val)
 gnomAD v4
2g.178527055C>GCA349398231TTN,TTN-AS1c.100229G>C (p.Gly33410Ala)
c.81314G>C (p.Gly27105Ala)
c.81113G>C (p.Gly27038Ala)
c.80738G>C (p.Gly26913Ala)
c.107933G>C (p.Gly35978Ala)
c.103010G>C (p.Gly34337Ala)
n.446+3419C>G
n.219+3419C>G
c.107030G>C (p.Gly35677Ala)
c.80924G>C (p.Gly26975Ala)
c.80783G>C (p.Gly26928Ala)
c.106826G>C (p.Gly35609Ala)
c.102224G>C (p.Gly34075Ala)
c.102221G>C (p.Gly34074Ala)
c.99263G>C (p.Gly33088Ala)
c.80879G>C (p.Gly26960Ala)
c.102374G>C (p.Gly34125Ala)
c.102371G>C (p.Gly34124Ala)
c.101804G>C (p.Gly33935Ala)
c.99146G>C (p.Gly33049Ala)
c.99065G>C (p.Gly33022Ala)
c.80828G>C (p.Gly26943Ala)
c.70682G>C (p.Gly23561Ala)
2g.178527055C>TCA349398232TTN,TTN-AS1c.100229G>A (p.Gly33410Glu)
c.81314G>A (p.Gly27105Glu)
c.81113G>A (p.Gly27038Glu)
c.80738G>A (p.Gly26913Glu)
c.107933G>A (p.Gly35978Glu)
c.103010G>A (p.Gly34337Glu)
n.446+3419C>T
n.219+3419C>T
c.107030G>A (p.Gly35677Glu)
c.80924G>A (p.Gly26975Glu)
c.80783G>A (p.Gly26928Glu)
c.106826G>A (p.Gly35609Glu)
c.102224G>A (p.Gly34075Glu)
c.102221G>A (p.Gly34074Glu)
c.99263G>A (p.Gly33088Glu)
c.80879G>A (p.Gly26960Glu)
c.102374G>A (p.Gly34125Glu)
c.102371G>A (p.Gly34124Glu)
c.101804G>A (p.Gly33935Glu)
c.99146G>A (p.Gly33049Glu)
c.99065G>A (p.Gly33022Glu)
c.80828G>A (p.Gly26943Glu)
c.70682G>A (p.Gly23561Glu)
 ClinVar dbSNP
2g.178527056C>ACA349398234TTN,TTN-AS1c.100228G>T (p.Gly33410Ter)
c.81313G>T (p.Gly27105Ter)
c.81112G>T (p.Gly27038Ter)
c.80737G>T (p.Gly26913Ter)
c.107932G>T (p.Gly35978Ter)
c.103009G>T (p.Gly34337Ter)
n.446+3420C>A
n.219+3420C>A
c.107029G>T (p.Gly35677Ter)
c.80923G>T (p.Gly26975Ter)
c.80782G>T (p.Gly26928Ter)
c.106825G>T (p.Gly35609Ter)
c.102223G>T (p.Gly34075Ter)
c.102220G>T (p.Gly34074Ter)
c.99262G>T (p.Gly33088Ter)
c.80878G>T (p.Gly26960Ter)
c.102373G>T (p.Gly34125Ter)
c.102370G>T (p.Gly34124Ter)
c.101803G>T (p.Gly33935Ter)
c.99145G>T (p.Gly33049Ter)
c.99064G>T (p.Gly33022Ter)
c.80827G>T (p.Gly26943Ter)
c.70681G>T (p.Gly23561Ter)
 dbSNP
2g.178527056C=CA1310514281TTN,TTN-AS1c.100228G= (p.Gly33410=)
c.81313G= (p.Gly27105=)
c.81112G= (p.Gly27038=)
c.80737G= (p.Gly26913=)
c.107932G= (p.Gly35978=)
c.103009G= (p.Gly34337=)
n.446+3420C=
n.219+3420C=
c.107029G= (p.Gly35677=)
c.80923G= (p.Gly26975=)
c.80782G= (p.Gly26928=)
c.106825G= (p.Gly35609=)
c.102223G= (p.Gly34075=)
c.102220G= (p.Gly34074=)
c.99262G= (p.Gly33088=)
c.80878G= (p.Gly26960=)
c.102373G= (p.Gly34125=)
c.102370G= (p.Gly34124=)
c.101803G= (p.Gly33935=)
c.99145G= (p.Gly33049=)
c.99064G= (p.Gly33022=)
c.80827G= (p.Gly26943=)
c.70681G= (p.Gly23561=)
2g.178527056C>GCA349398235TTN,TTN-AS1c.100228G>C (p.Gly33410Arg)
c.81313G>C (p.Gly27105Arg)
c.81112G>C (p.Gly27038Arg)
c.80737G>C (p.Gly26913Arg)
c.107932G>C (p.Gly35978Arg)
c.103009G>C (p.Gly34337Arg)
n.446+3420C>G
n.219+3420C>G
c.107029G>C (p.Gly35677Arg)
c.80923G>C (p.Gly26975Arg)
c.80782G>C (p.Gly26928Arg)
c.106825G>C (p.Gly35609Arg)
c.102223G>C (p.Gly34075Arg)
c.102220G>C (p.Gly34074Arg)
c.99262G>C (p.Gly33088Arg)
c.80878G>C (p.Gly26960Arg)
c.102373G>C (p.Gly34125Arg)
c.102370G>C (p.Gly34124Arg)
c.101803G>C (p.Gly33935Arg)
c.99145G>C (p.Gly33049Arg)
c.99064G>C (p.Gly33022Arg)
c.80827G>C (p.Gly26943Arg)
c.70681G>C (p.Gly23561Arg)
2g.178527056C>TCA349398236TTN,TTN-AS1c.100228G>A (p.Gly33410Arg)
c.81313G>A (p.Gly27105Arg)
c.81112G>A (p.Gly27038Arg)
c.80737G>A (p.Gly26913Arg)
c.107932G>A (p.Gly35978Arg)
c.103009G>A (p.Gly34337Arg)
n.446+3420C>T
n.219+3420C>T
c.107029G>A (p.Gly35677Arg)
c.80923G>A (p.Gly26975Arg)
c.80782G>A (p.Gly26928Arg)
c.106825G>A (p.Gly35609Arg)
c.102223G>A (p.Gly34075Arg)
c.102220G>A (p.Gly34074Arg)
c.99262G>A (p.Gly33088Arg)
c.80878G>A (p.Gly26960Arg)
c.102373G>A (p.Gly34125Arg)
c.102370G>A (p.Gly34124Arg)
c.101803G>A (p.Gly33935Arg)
c.99145G>A (p.Gly33049Arg)
c.99064G>A (p.Gly33022Arg)
c.80827G>A (p.Gly26943Arg)
c.70681G>A (p.Gly23561Arg)
2g.178527057A>CCA349398243TTN,TTN-AS1c.100227T>G (p.Phe33409Leu)
c.81312T>G (p.Phe27104Leu)
c.81111T>G (p.Phe27037Leu)
c.80736T>G (p.Phe26912Leu)
c.107931T>G (p.Phe35977Leu)
c.103008T>G (p.Phe34336Leu)
n.446+3421A>C
n.219+3421A>C
c.107028T>G (p.Phe35676Leu)
c.80922T>G (p.Phe26974Leu)
c.80781T>G (p.Phe26927Leu)
c.106824T>G (p.Phe35608Leu)
c.102222T>G (p.Phe34074Leu)
c.102219T>G (p.Phe34073Leu)
c.99261T>G (p.Phe33087Leu)
c.80877T>G (p.Phe26959Leu)
c.102372T>G (p.Phe34124Leu)
c.102369T>G (p.Phe34123Leu)
c.101802T>G (p.Phe33934Leu)
c.99144T>G (p.Phe33048Leu)
c.99063T>G (p.Phe33021Leu)
c.80826T>G (p.Phe26942Leu)
c.70680T>G (p.Phe23560Leu)
2g.178527057A>GCA430091492TTN,TTN-AS1c.100227T>C (p.Phe33409=)
c.81312T>C (p.Phe27104=)
c.81111T>C (p.Phe27037=)
c.80736T>C (p.Phe26912=)
c.107931T>C (p.Phe35977=)
c.103008T>C (p.Phe34336=)
n.446+3421A>G
n.219+3421A>G
c.107028T>C (p.Phe35676=)
c.80922T>C (p.Phe26974=)
c.80781T>C (p.Phe26927=)
c.106824T>C (p.Phe35608=)
c.102222T>C (p.Phe34074=)
c.102219T>C (p.Phe34073=)
c.99261T>C (p.Phe33087=)
c.80877T>C (p.Phe26959=)
c.102372T>C (p.Phe34124=)
c.102369T>C (p.Phe34123=)
c.101802T>C (p.Phe33934=)
c.99144T>C (p.Phe33048=)
c.99063T>C (p.Phe33021=)
c.80826T>C (p.Phe26942=)
c.70680T>C (p.Phe23560=)
2g.178527057A>TCA349398245TTN,TTN-AS1c.100227T>A (p.Phe33409Leu)
c.81312T>A (p.Phe27104Leu)
c.81111T>A (p.Phe27037Leu)
c.80736T>A (p.Phe26912Leu)
c.107931T>A (p.Phe35977Leu)
c.103008T>A (p.Phe34336Leu)
n.446+3421A>T
n.219+3421A>T
c.107028T>A (p.Phe35676Leu)
c.80922T>A (p.Phe26974Leu)
c.80781T>A (p.Phe26927Leu)
c.106824T>A (p.Phe35608Leu)
c.102222T>A (p.Phe34074Leu)
c.102219T>A (p.Phe34073Leu)
c.99261T>A (p.Phe33087Leu)
c.80877T>A (p.Phe26959Leu)
c.102372T>A (p.Phe34124Leu)
c.102369T>A (p.Phe34123Leu)
c.101802T>A (p.Phe33934Leu)
c.99144T>A (p.Phe33048Leu)
c.99063T>A (p.Phe33021Leu)
c.80826T>A (p.Phe26942Leu)
c.70680T>A (p.Phe23560Leu)
2g.178527058A>CCA349398250TTN,TTN-AS1c.100226T>G (p.Phe33409Cys)
c.81311T>G (p.Phe27104Cys)
c.81110T>G (p.Phe27037Cys)
c.80735T>G (p.Phe26912Cys)
c.107930T>G (p.Phe35977Cys)
c.103007T>G (p.Phe34336Cys)
n.446+3422A>C
n.219+3422A>C
c.107027T>G (p.Phe35676Cys)
c.80921T>G (p.Phe26974Cys)
c.80780T>G (p.Phe26927Cys)
c.106823T>G (p.Phe35608Cys)
c.102221T>G (p.Phe34074Cys)
c.102218T>G (p.Phe34073Cys)
c.99260T>G (p.Phe33087Cys)
c.80876T>G (p.Phe26959Cys)
c.102371T>G (p.Phe34124Cys)
c.102368T>G (p.Phe34123Cys)
c.101801T>G (p.Phe33934Cys)
c.99143T>G (p.Phe33048Cys)
c.99062T>G (p.Phe33021Cys)
c.80825T>G (p.Phe26942Cys)
c.70679T>G (p.Phe23560Cys)
2g.178527058A>GCA349398252TTN,TTN-AS1c.100226T>C (p.Phe33409Ser)
c.81311T>C (p.Phe27104Ser)
c.81110T>C (p.Phe27037Ser)
c.80735T>C (p.Phe26912Ser)
c.107930T>C (p.Phe35977Ser)
c.103007T>C (p.Phe34336Ser)
n.446+3422A>G
n.219+3422A>G
c.107027T>C (p.Phe35676Ser)
c.80921T>C (p.Phe26974Ser)
c.80780T>C (p.Phe26927Ser)
c.106823T>C (p.Phe35608Ser)
c.102221T>C (p.Phe34074Ser)
c.102218T>C (p.Phe34073Ser)
c.99260T>C (p.Phe33087Ser)
c.80876T>C (p.Phe26959Ser)
c.102371T>C (p.Phe34124Ser)
c.102368T>C (p.Phe34123Ser)
c.101801T>C (p.Phe33934Ser)
c.99143T>C (p.Phe33048Ser)
c.99062T>C (p.Phe33021Ser)
c.80825T>C (p.Phe26942Ser)
c.70679T>C (p.Phe23560Ser)
2g.178527058A>TCA349398256TTN,TTN-AS1c.100226T>A (p.Phe33409Tyr)
c.81311T>A (p.Phe27104Tyr)
c.81110T>A (p.Phe27037Tyr)
c.80735T>A (p.Phe26912Tyr)
c.107930T>A (p.Phe35977Tyr)
c.103007T>A (p.Phe34336Tyr)
n.446+3422A>T
n.219+3422A>T
c.107027T>A (p.Phe35676Tyr)
c.80921T>A (p.Phe26974Tyr)
c.80780T>A (p.Phe26927Tyr)
c.106823T>A (p.Phe35608Tyr)
c.102221T>A (p.Phe34074Tyr)
c.102218T>A (p.Phe34073Tyr)
c.99260T>A (p.Phe33087Tyr)
c.80876T>A (p.Phe26959Tyr)
c.102371T>A (p.Phe34124Tyr)
c.102368T>A (p.Phe34123Tyr)
c.101801T>A (p.Phe33934Tyr)
c.99143T>A (p.Phe33048Tyr)
c.99062T>A (p.Phe33021Tyr)
c.80825T>A (p.Phe26942Tyr)
c.70679T>A (p.Phe23560Tyr)
2g.178527059A>CCA349398260TTN,TTN-AS1c.100225T>G (p.Phe33409Val)
c.81310T>G (p.Phe27104Val)
c.81109T>G (p.Phe27037Val)
c.80734T>G (p.Phe26912Val)
c.107929T>G (p.Phe35977Val)
c.103006T>G (p.Phe34336Val)
n.446+3423A>C
n.219+3423A>C
c.107026T>G (p.Phe35676Val)
c.80920T>G (p.Phe26974Val)
c.80779T>G (p.Phe26927Val)
c.106822T>G (p.Phe35608Val)
c.102220T>G (p.Phe34074Val)
c.102217T>G (p.Phe34073Val)
c.99259T>G (p.Phe33087Val)
c.80875T>G (p.Phe26959Val)
c.102370T>G (p.Phe34124Val)
c.102367T>G (p.Phe34123Val)
c.101800T>G (p.Phe33934Val)
c.99142T>G (p.Phe33048Val)
c.99061T>G (p.Phe33021Val)
c.80824T>G (p.Phe26942Val)
c.70678T>G (p.Phe23560Val)
2g.178527059A>GCA349398261TTN,TTN-AS1c.100225T>C (p.Phe33409Leu)
c.81310T>C (p.Phe27104Leu)
c.81109T>C (p.Phe27037Leu)
c.80734T>C (p.Phe26912Leu)
c.107929T>C (p.Phe35977Leu)
c.103006T>C (p.Phe34336Leu)
n.446+3423A>G
n.219+3423A>G
c.107026T>C (p.Phe35676Leu)
c.80920T>C (p.Phe26974Leu)
c.80779T>C (p.Phe26927Leu)
c.106822T>C (p.Phe35608Leu)
c.102220T>C (p.Phe34074Leu)
c.102217T>C (p.Phe34073Leu)
c.99259T>C (p.Phe33087Leu)
c.80875T>C (p.Phe26959Leu)
c.102370T>C (p.Phe34124Leu)
c.102367T>C (p.Phe34123Leu)
c.101800T>C (p.Phe33934Leu)
c.99142T>C (p.Phe33048Leu)
c.99061T>C (p.Phe33021Leu)
c.80824T>C (p.Phe26942Leu)
c.70678T>C (p.Phe23560Leu)
2g.178527059A>TCA349398263TTN,TTN-AS1c.100225T>A (p.Phe33409Ile)
c.81310T>A (p.Phe27104Ile)
c.81109T>A (p.Phe27037Ile)
c.80734T>A (p.Phe26912Ile)
c.107929T>A (p.Phe35977Ile)
c.103006T>A (p.Phe34336Ile)
n.446+3423A>T
n.219+3423A>T
c.107026T>A (p.Phe35676Ile)
c.80920T>A (p.Phe26974Ile)
c.80779T>A (p.Phe26927Ile)
c.106822T>A (p.Phe35608Ile)
c.102220T>A (p.Phe34074Ile)
c.102217T>A (p.Phe34073Ile)
c.99259T>A (p.Phe33087Ile)
c.80875T>A (p.Phe26959Ile)
c.102370T>A (p.Phe34124Ile)
c.102367T>A (p.Phe34123Ile)
c.101800T>A (p.Phe33934Ile)
c.99142T>A (p.Phe33048Ile)
c.99061T>A (p.Phe33021Ile)
c.80824T>A (p.Phe26942Ile)
c.70678T>A (p.Phe23560Ile)
2g.178527060T>ACA349398266TTN,TTN-AS1c.100224A>T (p.Glu33408Asp)
c.81309A>T (p.Glu27103Asp)
c.81108A>T (p.Glu27036Asp)
c.80733A>T (p.Glu26911Asp)
c.107928A>T (p.Glu35976Asp)
c.103005A>T (p.Glu34335Asp)
n.446+3424T>A
n.219+3424T>A
c.107025A>T (p.Glu35675Asp)
c.80919A>T (p.Glu26973Asp)
c.80778A>T (p.Glu26926Asp)
c.106821A>T (p.Glu35607Asp)
c.102219A>T (p.Glu34073Asp)
c.102216A>T (p.Glu34072Asp)
c.99258A>T (p.Glu33086Asp)
c.80874A>T (p.Glu26958Asp)
c.102369A>T (p.Glu34123Asp)
c.102366A>T (p.Glu34122Asp)
c.101799A>T (p.Glu33933Asp)
c.99141A>T (p.Glu33047Asp)
c.99060A>T (p.Glu33020Asp)
c.80823A>T (p.Glu26941Asp)
c.70677A>T (p.Glu23559Asp)
2g.178527060T>CCA430091498TTN,TTN-AS1c.100224A>G (p.Glu33408=)
c.81309A>G (p.Glu27103=)
c.81108A>G (p.Glu27036=)
c.80733A>G (p.Glu26911=)
c.107928A>G (p.Glu35976=)
c.103005A>G (p.Glu34335=)
n.446+3424T>C
n.219+3424T>C
c.107025A>G (p.Glu35675=)
c.80919A>G (p.Glu26973=)
c.80778A>G (p.Glu26926=)
c.106821A>G (p.Glu35607=)
c.102219A>G (p.Glu34073=)
c.102216A>G (p.Glu34072=)
c.99258A>G (p.Glu33086=)
c.80874A>G (p.Glu26958=)
c.102369A>G (p.Glu34123=)
c.102366A>G (p.Glu34122=)
c.101799A>G (p.Glu33933=)
c.99141A>G (p.Glu33047=)
c.99060A>G (p.Glu33020=)
c.80823A>G (p.Glu26941=)
c.70677A>G (p.Glu23559=)
2g.178527060T>GCA349398265TTN,TTN-AS1c.100224A>C (p.Glu33408Asp)
c.81309A>C (p.Glu27103Asp)
c.81108A>C (p.Glu27036Asp)
c.80733A>C (p.Glu26911Asp)
c.107928A>C (p.Glu35976Asp)
c.103005A>C (p.Glu34335Asp)
n.446+3424T>G
n.219+3424T>G
c.107025A>C (p.Glu35675Asp)
c.80919A>C (p.Glu26973Asp)
c.80778A>C (p.Glu26926Asp)
c.106821A>C (p.Glu35607Asp)
c.102219A>C (p.Glu34073Asp)
c.102216A>C (p.Glu34072Asp)
c.99258A>C (p.Glu33086Asp)
c.80874A>C (p.Glu26958Asp)
c.102369A>C (p.Glu34123Asp)
c.102366A>C (p.Glu34122Asp)
c.101799A>C (p.Glu33933Asp)
c.99141A>C (p.Glu33047Asp)
c.99060A>C (p.Glu33020Asp)
c.80823A>C (p.Glu26941Asp)
c.70677A>C (p.Glu23559Asp)
2g.178527061T>ACA349398270TTN,TTN-AS1c.100223A>T (p.Glu33408Val)
c.81308A>T (p.Glu27103Val)
c.81107A>T (p.Glu27036Val)
c.80732A>T (p.Glu26911Val)
c.107927A>T (p.Glu35976Val)
c.103004A>T (p.Glu34335Val)
n.446+3425T>A
n.219+3425T>A
c.107024A>T (p.Glu35675Val)
c.80918A>T (p.Glu26973Val)
c.80777A>T (p.Glu26926Val)
c.106820A>T (p.Glu35607Val)
c.102218A>T (p.Glu34073Val)
c.102215A>T (p.Glu34072Val)
c.99257A>T (p.Glu33086Val)
c.80873A>T (p.Glu26958Val)
c.102368A>T (p.Glu34123Val)
c.102365A>T (p.Glu34122Val)
c.101798A>T (p.Glu33933Val)
c.99140A>T (p.Glu33047Val)
c.99059A>T (p.Glu33020Val)
c.80822A>T (p.Glu26941Val)
c.70676A>T (p.Glu23559Val)
2g.178527061T>CCA349398272TTN,TTN-AS1c.100223A>G (p.Glu33408Gly)
c.81308A>G (p.Glu27103Gly)
c.81107A>G (p.Glu27036Gly)
c.80732A>G (p.Glu26911Gly)
c.107927A>G (p.Glu35976Gly)
c.103004A>G (p.Glu34335Gly)
n.446+3425T>C
n.219+3425T>C
c.107024A>G (p.Glu35675Gly)
c.80918A>G (p.Glu26973Gly)
c.80777A>G (p.Glu26926Gly)
c.106820A>G (p.Glu35607Gly)
c.102218A>G (p.Glu34073Gly)
c.102215A>G (p.Glu34072Gly)
c.99257A>G (p.Glu33086Gly)
c.80873A>G (p.Glu26958Gly)
c.102368A>G (p.Glu34123Gly)
c.102365A>G (p.Glu34122Gly)
c.101798A>G (p.Glu33933Gly)
c.99140A>G (p.Glu33047Gly)
c.99059A>G (p.Glu33020Gly)
c.80822A>G (p.Glu26941Gly)
c.70676A>G (p.Glu23559Gly)
2g.178527061T>GCA349398275TTN,TTN-AS1c.100223A>C (p.Glu33408Ala)
c.81308A>C (p.Glu27103Ala)
c.81107A>C (p.Glu27036Ala)
c.80732A>C (p.Glu26911Ala)
c.107927A>C (p.Glu35976Ala)
c.103004A>C (p.Glu34335Ala)
n.446+3425T>G
n.219+3425T>G
c.107024A>C (p.Glu35675Ala)
c.80918A>C (p.Glu26973Ala)
c.80777A>C (p.Glu26926Ala)
c.106820A>C (p.Glu35607Ala)
c.102218A>C (p.Glu34073Ala)
c.102215A>C (p.Glu34072Ala)
c.99257A>C (p.Glu33086Ala)
c.80873A>C (p.Glu26958Ala)
c.102368A>C (p.Glu34123Ala)
c.102365A>C (p.Glu34122Ala)
c.101798A>C (p.Glu33933Ala)
c.99140A>C (p.Glu33047Ala)
c.99059A>C (p.Glu33020Ala)
c.80822A>C (p.Glu26941Ala)
c.70676A>C (p.Glu23559Ala)
2g.178527062C>ACA349398276TTN,TTN-AS1c.100222G>T (p.Glu33408Ter)
c.81307G>T (p.Glu27103Ter)
c.81106G>T (p.Glu27036Ter)
c.80731G>T (p.Glu26911Ter)
c.107926G>T (p.Glu35976Ter)
c.103003G>T (p.Glu34335Ter)
n.446+3426C>A
n.219+3426C>A
c.107023G>T (p.Glu35675Ter)
c.80917G>T (p.Glu26973Ter)
c.80776G>T (p.Glu26926Ter)
c.106819G>T (p.Glu35607Ter)
c.102217G>T (p.Glu34073Ter)
c.102214G>T (p.Glu34072Ter)
c.99256G>T (p.Glu33086Ter)
c.80872G>T (p.Glu26958Ter)
c.102367G>T (p.Glu34123Ter)
c.102364G>T (p.Glu34122Ter)
c.101797G>T (p.Glu33933Ter)
c.99139G>T (p.Glu33047Ter)
c.99058G>T (p.Glu33020Ter)
c.80821G>T (p.Glu26941Ter)
c.70675G>T (p.Glu23559Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527062C=CA1310514282TTN,TTN-AS1c.100222G= (p.Glu33408=)
c.81307G= (p.Glu27103=)
c.81106G= (p.Glu27036=)
c.80731G= (p.Glu26911=)
c.107926G= (p.Glu35976=)
c.103003G= (p.Glu34335=)
n.446+3426C=
n.219+3426C=
c.107023G= (p.Glu35675=)
c.80917G= (p.Glu26973=)
c.80776G= (p.Glu26926=)
c.106819G= (p.Glu35607=)
c.102217G= (p.Glu34073=)
c.102214G= (p.Glu34072=)
c.99256G= (p.Glu33086=)
c.80872G= (p.Glu26958=)
c.102367G= (p.Glu34123=)
c.102364G= (p.Glu34122=)
c.101797G= (p.Glu33933=)
c.99139G= (p.Glu33047=)
c.99058G= (p.Glu33020=)
c.80821G= (p.Glu26941=)
c.70675G= (p.Glu23559=)
2g.178527062C>GCA349398278TTN,TTN-AS1c.100222G>C (p.Glu33408Gln)
c.81307G>C (p.Glu27103Gln)
c.81106G>C (p.Glu27036Gln)
c.80731G>C (p.Glu26911Gln)
c.107926G>C (p.Glu35976Gln)
c.103003G>C (p.Glu34335Gln)
n.446+3426C>G
n.219+3426C>G
c.107023G>C (p.Glu35675Gln)
c.80917G>C (p.Glu26973Gln)
c.80776G>C (p.Glu26926Gln)
c.106819G>C (p.Glu35607Gln)
c.102217G>C (p.Glu34073Gln)
c.102214G>C (p.Glu34072Gln)
c.99256G>C (p.Glu33086Gln)
c.80872G>C (p.Glu26958Gln)
c.102367G>C (p.Glu34123Gln)
c.102364G>C (p.Glu34122Gln)
c.101797G>C (p.Glu33933Gln)
c.99139G>C (p.Glu33047Gln)
c.99058G>C (p.Glu33020Gln)
c.80821G>C (p.Glu26941Gln)
c.70675G>C (p.Glu23559Gln)
2g.178527062C>TCA349398280TTN,TTN-AS1c.100222G>A (p.Glu33408Lys)
c.81307G>A (p.Glu27103Lys)
c.81106G>A (p.Glu27036Lys)
c.80731G>A (p.Glu26911Lys)
c.107926G>A (p.Glu35976Lys)
c.103003G>A (p.Glu34335Lys)
n.446+3426C>T
n.219+3426C>T
c.107023G>A (p.Glu35675Lys)
c.80917G>A (p.Glu26973Lys)
c.80776G>A (p.Glu26926Lys)
c.106819G>A (p.Glu35607Lys)
c.102217G>A (p.Glu34073Lys)
c.102214G>A (p.Glu34072Lys)
c.99256G>A (p.Glu33086Lys)
c.80872G>A (p.Glu26958Lys)
c.102367G>A (p.Glu34123Lys)
c.102364G>A (p.Glu34122Lys)
c.101797G>A (p.Glu33933Lys)
c.99139G>A (p.Glu33047Lys)
c.99058G>A (p.Glu33020Lys)
c.80821G>A (p.Glu26941Lys)
c.70675G>A (p.Glu23559Lys)
2g.178527063A>CCA349398284TTN,TTN-AS1c.100221T>G (p.Asn33407Lys)
c.81306T>G (p.Asn27102Lys)
c.81105T>G (p.Asn27035Lys)
c.80730T>G (p.Asn26910Lys)
c.107925T>G (p.Asn35975Lys)
c.103002T>G (p.Asn34334Lys)
n.446+3427A>C
n.219+3427A>C
c.107022T>G (p.Asn35674Lys)
c.80916T>G (p.Asn26972Lys)
c.80775T>G (p.Asn26925Lys)
c.106818T>G (p.Asn35606Lys)
c.102216T>G (p.Asn34072Lys)
c.102213T>G (p.Asn34071Lys)
c.99255T>G (p.Asn33085Lys)
c.80871T>G (p.Asn26957Lys)
c.102366T>G (p.Asn34122Lys)
c.102363T>G (p.Asn34121Lys)
c.101796T>G (p.Asn33932Lys)
c.99138T>G (p.Asn33046Lys)
c.99057T>G (p.Asn33019Lys)
c.80820T>G (p.Asn26940Lys)
c.70674T>G (p.Asn23558Lys)
2g.178527063A>GCA430091506TTN,TTN-AS1c.100221T>C (p.Asn33407=)
c.81306T>C (p.Asn27102=)
c.81105T>C (p.Asn27035=)
c.80730T>C (p.Asn26910=)
c.107925T>C (p.Asn35975=)
c.103002T>C (p.Asn34334=)
n.446+3427A>G
n.219+3427A>G
c.107022T>C (p.Asn35674=)
c.80916T>C (p.Asn26972=)
c.80775T>C (p.Asn26925=)
c.106818T>C (p.Asn35606=)
c.102216T>C (p.Asn34072=)
c.102213T>C (p.Asn34071=)
c.99255T>C (p.Asn33085=)
c.80871T>C (p.Asn26957=)
c.102366T>C (p.Asn34122=)
c.102363T>C (p.Asn34121=)
c.101796T>C (p.Asn33932=)
c.99138T>C (p.Asn33046=)
c.99057T>C (p.Asn33019=)
c.80820T>C (p.Asn26940=)
c.70674T>C (p.Asn23558=)
 ClinVar dbSNP
2g.178527063A>TCA349398282TTN,TTN-AS1c.100221T>A (p.Asn33407Lys)
c.81306T>A (p.Asn27102Lys)
c.81105T>A (p.Asn27035Lys)
c.80730T>A (p.Asn26910Lys)
c.107925T>A (p.Asn35975Lys)
c.103002T>A (p.Asn34334Lys)
n.446+3427A>T
n.219+3427A>T
c.107022T>A (p.Asn35674Lys)
c.80916T>A (p.Asn26972Lys)
c.80775T>A (p.Asn26925Lys)
c.106818T>A (p.Asn35606Lys)
c.102216T>A (p.Asn34072Lys)
c.102213T>A (p.Asn34071Lys)
c.99255T>A (p.Asn33085Lys)
c.80871T>A (p.Asn26957Lys)
c.102366T>A (p.Asn34122Lys)
c.102363T>A (p.Asn34121Lys)
c.101796T>A (p.Asn33932Lys)
c.99138T>A (p.Asn33046Lys)
c.99057T>A (p.Asn33019Lys)
c.80820T>A (p.Asn26940Lys)
c.70674T>A (p.Asn23558Lys)

Number of alleles fetched