Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544306G>ACA1986853TTN,TTN-AS1c.88219C>T (p.Leu29407Phe)
c.69304C>T (p.Leu23102Phe)
c.69103C>T (p.Leu23035Phe)
c.68728C>T (p.Leu22910Phe)
c.95923C>T (p.Leu31975Phe)
c.91000C>T (p.Leu30334Phe)
n.446+20670G>A
n.2043+1945G>A
c.95020C>T (p.Leu31674Phe)
c.68914C>T (p.Leu22972Phe)
c.68773C>T (p.Leu22925Phe)
c.94816C>T (p.Leu31606Phe)
c.90214C>T (p.Leu30072Phe)
c.90211C>T (p.Leu30071Phe)
c.87253C>T (p.Leu29085Phe)
c.68869C>T (p.Leu22957Phe)
c.90364C>T (p.Leu30122Phe)
c.90361C>T (p.Leu30121Phe)
c.89794C>T (p.Leu29932Phe)
c.87136C>T (p.Leu29046Phe)
c.87055C>T (p.Leu29019Phe)
c.68818C>T (p.Leu22940Phe)
c.58672C>T (p.Leu19558Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544306G>CCA349455993TTN,TTN-AS1c.88219C>G (p.Leu29407Val)
c.69304C>G (p.Leu23102Val)
c.69103C>G (p.Leu23035Val)
c.68728C>G (p.Leu22910Val)
c.95923C>G (p.Leu31975Val)
c.91000C>G (p.Leu30334Val)
n.446+20670G>C
n.2043+1945G>C
c.95020C>G (p.Leu31674Val)
c.68914C>G (p.Leu22972Val)
c.68773C>G (p.Leu22925Val)
c.94816C>G (p.Leu31606Val)
c.90214C>G (p.Leu30072Val)
c.90211C>G (p.Leu30071Val)
c.87253C>G (p.Leu29085Val)
c.68869C>G (p.Leu22957Val)
c.90364C>G (p.Leu30122Val)
c.90361C>G (p.Leu30121Val)
c.89794C>G (p.Leu29932Val)
c.87136C>G (p.Leu29046Val)
c.87055C>G (p.Leu29019Val)
c.68818C>G (p.Leu22940Val)
c.58672C>G (p.Leu19558Val)
2g.178544306G=CA1310521498TTN,TTN-AS1c.88219C= (p.Leu29407=)
c.69304C= (p.Leu23102=)
c.69103C= (p.Leu23035=)
c.68728C= (p.Leu22910=)
c.95923C= (p.Leu31975=)
c.91000C= (p.Leu30334=)
n.446+20670G=
n.2043+1945G=
c.95020C= (p.Leu31674=)
c.68914C= (p.Leu22972=)
c.68773C= (p.Leu22925=)
c.94816C= (p.Leu31606=)
c.90214C= (p.Leu30072=)
c.90211C= (p.Leu30071=)
c.87253C= (p.Leu29085=)
c.68869C= (p.Leu22957=)
c.90364C= (p.Leu30122=)
c.90361C= (p.Leu30121=)
c.89794C= (p.Leu29932=)
c.87136C= (p.Leu29046=)
c.87055C= (p.Leu29019=)
c.68818C= (p.Leu22940=)
c.58672C= (p.Leu19558=)
2g.178544306G>TCA349455996TTN,TTN-AS1c.88219C>A (p.Leu29407Ile)
c.69304C>A (p.Leu23102Ile)
c.69103C>A (p.Leu23035Ile)
c.68728C>A (p.Leu22910Ile)
c.95923C>A (p.Leu31975Ile)
c.91000C>A (p.Leu30334Ile)
n.446+20670G>T
n.2043+1945G>T
c.95020C>A (p.Leu31674Ile)
c.68914C>A (p.Leu22972Ile)
c.68773C>A (p.Leu22925Ile)
c.94816C>A (p.Leu31606Ile)
c.90214C>A (p.Leu30072Ile)
c.90211C>A (p.Leu30071Ile)
c.87253C>A (p.Leu29085Ile)
c.68869C>A (p.Leu22957Ile)
c.90364C>A (p.Leu30122Ile)
c.90361C>A (p.Leu30121Ile)
c.89794C>A (p.Leu29932Ile)
c.87136C>A (p.Leu29046Ile)
c.87055C>A (p.Leu29019Ile)
c.68818C>A (p.Leu22940Ile)
c.58672C>A (p.Leu19558Ile)
2g.178544307G>ACA430241668TTN,TTN-AS1c.88218C>T (p.Asp29406=)
c.69303C>T (p.Asp23101=)
c.69102C>T (p.Asp23034=)
c.68727C>T (p.Asp22909=)
c.95922C>T (p.Asp31974=)
c.90999C>T (p.Asp30333=)
n.446+20671G>A
n.2043+1946G>A
c.95019C>T (p.Asp31673=)
c.68913C>T (p.Asp22971=)
c.68772C>T (p.Asp22924=)
c.94815C>T (p.Asp31605=)
c.90213C>T (p.Asp30071=)
c.90210C>T (p.Asp30070=)
c.87252C>T (p.Asp29084=)
c.68868C>T (p.Asp22956=)
c.90363C>T (p.Asp30121=)
c.90360C>T (p.Asp30120=)
c.89793C>T (p.Asp29931=)
c.87135C>T (p.Asp29045=)
c.87054C>T (p.Asp29018=)
c.68817C>T (p.Asp22939=)
c.58671C>T (p.Asp19557=)
 gnomAD v4
2g.178544307G>CCA349455998TTN,TTN-AS1c.88218C>G (p.Asp29406Glu)
c.69303C>G (p.Asp23101Glu)
c.69102C>G (p.Asp23034Glu)
c.68727C>G (p.Asp22909Glu)
c.95922C>G (p.Asp31974Glu)
c.90999C>G (p.Asp30333Glu)
n.446+20671G>C
n.2043+1946G>C
c.95019C>G (p.Asp31673Glu)
c.68913C>G (p.Asp22971Glu)
c.68772C>G (p.Asp22924Glu)
c.94815C>G (p.Asp31605Glu)
c.90213C>G (p.Asp30071Glu)
c.90210C>G (p.Asp30070Glu)
c.87252C>G (p.Asp29084Glu)
c.68868C>G (p.Asp22956Glu)
c.90363C>G (p.Asp30121Glu)
c.90360C>G (p.Asp30120Glu)
c.89793C>G (p.Asp29931Glu)
c.87135C>G (p.Asp29045Glu)
c.87054C>G (p.Asp29018Glu)
c.68817C>G (p.Asp22939Glu)
c.58671C>G (p.Asp19557Glu)
2g.178544307G=CA1310521500TTN,TTN-AS1c.88218C= (p.Asp29406=)
c.69303C= (p.Asp23101=)
c.69102C= (p.Asp23034=)
c.68727C= (p.Asp22909=)
c.95922C= (p.Asp31974=)
c.90999C= (p.Asp30333=)
n.446+20671G=
n.2043+1946G=
c.95019C= (p.Asp31673=)
c.68913C= (p.Asp22971=)
c.68772C= (p.Asp22924=)
c.94815C= (p.Asp31605=)
c.90213C= (p.Asp30071=)
c.90210C= (p.Asp30070=)
c.87252C= (p.Asp29084=)
c.68868C= (p.Asp22956=)
c.90363C= (p.Asp30121=)
c.90360C= (p.Asp30120=)
c.89793C= (p.Asp29931=)
c.87135C= (p.Asp29045=)
c.87054C= (p.Asp29018=)
c.68817C= (p.Asp22939=)
c.58671C= (p.Asp19557=)
2g.178544307G>TCA349456001TTN,TTN-AS1c.88218C>A (p.Asp29406Glu)
c.69303C>A (p.Asp23101Glu)
c.69102C>A (p.Asp23034Glu)
c.68727C>A (p.Asp22909Glu)
c.95922C>A (p.Asp31974Glu)
c.90999C>A (p.Asp30333Glu)
n.446+20671G>T
n.2043+1946G>T
c.95019C>A (p.Asp31673Glu)
c.68913C>A (p.Asp22971Glu)
c.68772C>A (p.Asp22924Glu)
c.94815C>A (p.Asp31605Glu)
c.90213C>A (p.Asp30071Glu)
c.90210C>A (p.Asp30070Glu)
c.87252C>A (p.Asp29084Glu)
c.68868C>A (p.Asp22956Glu)
c.90363C>A (p.Asp30121Glu)
c.90360C>A (p.Asp30120Glu)
c.89793C>A (p.Asp29931Glu)
c.87135C>A (p.Asp29045Glu)
c.87054C>A (p.Asp29018Glu)
c.68817C>A (p.Asp22939Glu)
c.58671C>A (p.Asp19557Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.178544308T>ACA349456003TTN,TTN-AS1c.88217A>T (p.Asp29406Val)
c.69302A>T (p.Asp23101Val)
c.69101A>T (p.Asp23034Val)
c.68726A>T (p.Asp22909Val)
c.95921A>T (p.Asp31974Val)
c.90998A>T (p.Asp30333Val)
n.446+20672T>A
n.2043+1947T>A
c.95018A>T (p.Asp31673Val)
c.68912A>T (p.Asp22971Val)
c.68771A>T (p.Asp22924Val)
c.94814A>T (p.Asp31605Val)
c.90212A>T (p.Asp30071Val)
c.90209A>T (p.Asp30070Val)
c.87251A>T (p.Asp29084Val)
c.68867A>T (p.Asp22956Val)
c.90362A>T (p.Asp30121Val)
c.90359A>T (p.Asp30120Val)
c.89792A>T (p.Asp29931Val)
c.87134A>T (p.Asp29045Val)
c.87053A>T (p.Asp29018Val)
c.68816A>T (p.Asp22939Val)
c.58670A>T (p.Asp19557Val)
2g.178544308T>CCA349456007TTN,TTN-AS1c.88217A>G (p.Asp29406Gly)
c.69302A>G (p.Asp23101Gly)
c.69101A>G (p.Asp23034Gly)
c.68726A>G (p.Asp22909Gly)
c.95921A>G (p.Asp31974Gly)
c.90998A>G (p.Asp30333Gly)
n.446+20672T>C
n.2043+1947T>C
c.95018A>G (p.Asp31673Gly)
c.68912A>G (p.Asp22971Gly)
c.68771A>G (p.Asp22924Gly)
c.94814A>G (p.Asp31605Gly)
c.90212A>G (p.Asp30071Gly)
c.90209A>G (p.Asp30070Gly)
c.87251A>G (p.Asp29084Gly)
c.68867A>G (p.Asp22956Gly)
c.90362A>G (p.Asp30121Gly)
c.90359A>G (p.Asp30120Gly)
c.89792A>G (p.Asp29931Gly)
c.87134A>G (p.Asp29045Gly)
c.87053A>G (p.Asp29018Gly)
c.68816A>G (p.Asp22939Gly)
c.58670A>G (p.Asp19557Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178544308T>GCA349456014TTN,TTN-AS1c.88217A>C (p.Asp29406Ala)
c.69302A>C (p.Asp23101Ala)
c.69101A>C (p.Asp23034Ala)
c.68726A>C (p.Asp22909Ala)
c.95921A>C (p.Asp31974Ala)
c.90998A>C (p.Asp30333Ala)
n.446+20672T>G
n.2043+1947T>G
c.95018A>C (p.Asp31673Ala)
c.68912A>C (p.Asp22971Ala)
c.68771A>C (p.Asp22924Ala)
c.94814A>C (p.Asp31605Ala)
c.90212A>C (p.Asp30071Ala)
c.90209A>C (p.Asp30070Ala)
c.87251A>C (p.Asp29084Ala)
c.68867A>C (p.Asp22956Ala)
c.90362A>C (p.Asp30121Ala)
c.90359A>C (p.Asp30120Ala)
c.89792A>C (p.Asp29931Ala)
c.87134A>C (p.Asp29045Ala)
c.87053A>C (p.Asp29018Ala)
c.68816A>C (p.Asp22939Ala)
c.58670A>C (p.Asp19557Ala)
2g.178544308T=CA1310521502TTN,TTN-AS1c.88217A= (p.Asp29406=)
c.69302A= (p.Asp23101=)
c.69101A= (p.Asp23034=)
c.68726A= (p.Asp22909=)
c.95921A= (p.Asp31974=)
c.90998A= (p.Asp30333=)
n.446+20672T=
n.2043+1947T=
c.95018A= (p.Asp31673=)
c.68912A= (p.Asp22971=)
c.68771A= (p.Asp22924=)
c.94814A= (p.Asp31605=)
c.90212A= (p.Asp30071=)
c.90209A= (p.Asp30070=)
c.87251A= (p.Asp29084=)
c.68867A= (p.Asp22956=)
c.90362A= (p.Asp30121=)
c.90359A= (p.Asp30120=)
c.89792A= (p.Asp29931=)
c.87134A= (p.Asp29045=)
c.87053A= (p.Asp29018=)
c.68816A= (p.Asp22939=)
c.58670A= (p.Asp19557=)
2g.178544309C>ACA349456017TTN,TTN-AS1c.88216G>T (p.Asp29406Tyr)
c.69301G>T (p.Asp23101Tyr)
c.69100G>T (p.Asp23034Tyr)
c.68725G>T (p.Asp22909Tyr)
c.95920G>T (p.Asp31974Tyr)
c.90997G>T (p.Asp30333Tyr)
n.446+20673C>A
n.2043+1948C>A
c.95017G>T (p.Asp31673Tyr)
c.68911G>T (p.Asp22971Tyr)
c.68770G>T (p.Asp22924Tyr)
c.94813G>T (p.Asp31605Tyr)
c.90211G>T (p.Asp30071Tyr)
c.90208G>T (p.Asp30070Tyr)
c.87250G>T (p.Asp29084Tyr)
c.68866G>T (p.Asp22956Tyr)
c.90361G>T (p.Asp30121Tyr)
c.90358G>T (p.Asp30120Tyr)
c.89791G>T (p.Asp29931Tyr)
c.87133G>T (p.Asp29045Tyr)
c.87052G>T (p.Asp29018Tyr)
c.68815G>T (p.Asp22939Tyr)
c.58669G>T (p.Asp19557Tyr)
2g.178544309C>GCA349456020TTN,TTN-AS1c.88216G>C (p.Asp29406His)
c.69301G>C (p.Asp23101His)
c.69100G>C (p.Asp23034His)
c.68725G>C (p.Asp22909His)
c.95920G>C (p.Asp31974His)
c.90997G>C (p.Asp30333His)
n.446+20673C>G
n.2043+1948C>G
c.95017G>C (p.Asp31673His)
c.68911G>C (p.Asp22971His)
c.68770G>C (p.Asp22924His)
c.94813G>C (p.Asp31605His)
c.90211G>C (p.Asp30071His)
c.90208G>C (p.Asp30070His)
c.87250G>C (p.Asp29084His)
c.68866G>C (p.Asp22956His)
c.90361G>C (p.Asp30121His)
c.90358G>C (p.Asp30120His)
c.89791G>C (p.Asp29931His)
c.87133G>C (p.Asp29045His)
c.87052G>C (p.Asp29018His)
c.68815G>C (p.Asp22939His)
c.58669G>C (p.Asp19557His)
2g.178544309C>TCA349456022TTN,TTN-AS1c.88216G>A (p.Asp29406Asn)
c.69301G>A (p.Asp23101Asn)
c.69100G>A (p.Asp23034Asn)
c.68725G>A (p.Asp22909Asn)
c.95920G>A (p.Asp31974Asn)
c.90997G>A (p.Asp30333Asn)
n.446+20673C>T
n.2043+1948C>T
c.95017G>A (p.Asp31673Asn)
c.68911G>A (p.Asp22971Asn)
c.68770G>A (p.Asp22924Asn)
c.94813G>A (p.Asp31605Asn)
c.90211G>A (p.Asp30071Asn)
c.90208G>A (p.Asp30070Asn)
c.87250G>A (p.Asp29084Asn)
c.68866G>A (p.Asp22956Asn)
c.90361G>A (p.Asp30121Asn)
c.90358G>A (p.Asp30120Asn)
c.89791G>A (p.Asp29931Asn)
c.87133G>A (p.Asp29045Asn)
c.87052G>A (p.Asp29018Asn)
c.68815G>A (p.Asp22939Asn)
c.58669G>A (p.Asp19557Asn)
2g.178544310T>ACA430241678TTN,TTN-AS1c.88215A>T (p.Pro29405=)
c.69300A>T (p.Pro23100=)
c.69099A>T (p.Pro23033=)
c.68724A>T (p.Pro22908=)
c.95919A>T (p.Pro31973=)
c.90996A>T (p.Pro30332=)
n.446+20674T>A
n.2043+1949T>A
c.95016A>T (p.Pro31672=)
c.68910A>T (p.Pro22970=)
c.68769A>T (p.Pro22923=)
c.94812A>T (p.Pro31604=)
c.90210A>T (p.Pro30070=)
c.90207A>T (p.Pro30069=)
c.87249A>T (p.Pro29083=)
c.68865A>T (p.Pro22955=)
c.90360A>T (p.Pro30120=)
c.90357A>T (p.Pro30119=)
c.89790A>T (p.Pro29930=)
c.87132A>T (p.Pro29044=)
c.87051A>T (p.Pro29017=)
c.68814A>T (p.Pro22938=)
c.58668A>T (p.Pro19556=)
2g.178544310T>CCA430241682TTN,TTN-AS1c.88215A>G (p.Pro29405=)
c.69300A>G (p.Pro23100=)
c.69099A>G (p.Pro23033=)
c.68724A>G (p.Pro22908=)
c.95919A>G (p.Pro31973=)
c.90996A>G (p.Pro30332=)
n.446+20674T>C
n.2043+1949T>C
c.95016A>G (p.Pro31672=)
c.68910A>G (p.Pro22970=)
c.68769A>G (p.Pro22923=)
c.94812A>G (p.Pro31604=)
c.90210A>G (p.Pro30070=)
c.90207A>G (p.Pro30069=)
c.87249A>G (p.Pro29083=)
c.68865A>G (p.Pro22955=)
c.90360A>G (p.Pro30120=)
c.90357A>G (p.Pro30119=)
c.89790A>G (p.Pro29930=)
c.87132A>G (p.Pro29044=)
c.87051A>G (p.Pro29017=)
c.68814A>G (p.Pro22938=)
c.58668A>G (p.Pro19556=)
2g.178544310T>GCA430241681TTN,TTN-AS1c.88215A>C (p.Pro29405=)
c.69300A>C (p.Pro23100=)
c.69099A>C (p.Pro23033=)
c.68724A>C (p.Pro22908=)
c.95919A>C (p.Pro31973=)
c.90996A>C (p.Pro30332=)
n.446+20674T>G
n.2043+1949T>G
c.95016A>C (p.Pro31672=)
c.68910A>C (p.Pro22970=)
c.68769A>C (p.Pro22923=)
c.94812A>C (p.Pro31604=)
c.90210A>C (p.Pro30070=)
c.90207A>C (p.Pro30069=)
c.87249A>C (p.Pro29083=)
c.68865A>C (p.Pro22955=)
c.90360A>C (p.Pro30120=)
c.90357A>C (p.Pro30119=)
c.89790A>C (p.Pro29930=)
c.87132A>C (p.Pro29044=)
c.87051A>C (p.Pro29017=)
c.68814A>C (p.Pro22938=)
c.58668A>C (p.Pro19556=)
2g.178544311G>ACA1986854TTN,TTN-AS1c.88214C>T (p.Pro29405Leu)
c.69299C>T (p.Pro23100Leu)
c.69098C>T (p.Pro23033Leu)
c.68723C>T (p.Pro22908Leu)
c.95918C>T (p.Pro31973Leu)
c.90995C>T (p.Pro30332Leu)
n.446+20675G>A
n.2043+1950G>A
c.95015C>T (p.Pro31672Leu)
c.68909C>T (p.Pro22970Leu)
c.68768C>T (p.Pro22923Leu)
c.94811C>T (p.Pro31604Leu)
c.90209C>T (p.Pro30070Leu)
c.90206C>T (p.Pro30069Leu)
c.87248C>T (p.Pro29083Leu)
c.68864C>T (p.Pro22955Leu)
c.90359C>T (p.Pro30120Leu)
c.90356C>T (p.Pro30119Leu)
c.89789C>T (p.Pro29930Leu)
c.87131C>T (p.Pro29044Leu)
c.87050C>T (p.Pro29017Leu)
c.68813C>T (p.Pro22938Leu)
c.58667C>T (p.Pro19556Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544311G>CCA349456029TTN,TTN-AS1c.88214C>G (p.Pro29405Arg)
c.69299C>G (p.Pro23100Arg)
c.69098C>G (p.Pro23033Arg)
c.68723C>G (p.Pro22908Arg)
c.95918C>G (p.Pro31973Arg)
c.90995C>G (p.Pro30332Arg)
n.446+20675G>C
n.2043+1950G>C
c.95015C>G (p.Pro31672Arg)
c.68909C>G (p.Pro22970Arg)
c.68768C>G (p.Pro22923Arg)
c.94811C>G (p.Pro31604Arg)
c.90209C>G (p.Pro30070Arg)
c.90206C>G (p.Pro30069Arg)
c.87248C>G (p.Pro29083Arg)
c.68864C>G (p.Pro22955Arg)
c.90359C>G (p.Pro30120Arg)
c.90356C>G (p.Pro30119Arg)
c.89789C>G (p.Pro29930Arg)
c.87131C>G (p.Pro29044Arg)
c.87050C>G (p.Pro29017Arg)
c.68813C>G (p.Pro22938Arg)
c.58667C>G (p.Pro19556Arg)
2g.178544311G=CA1310521504TTN,TTN-AS1c.88214C= (p.Pro29405=)
c.69299C= (p.Pro23100=)
c.69098C= (p.Pro23033=)
c.68723C= (p.Pro22908=)
c.95918C= (p.Pro31973=)
c.90995C= (p.Pro30332=)
n.446+20675G=
n.2043+1950G=
c.95015C= (p.Pro31672=)
c.68909C= (p.Pro22970=)
c.68768C= (p.Pro22923=)
c.94811C= (p.Pro31604=)
c.90209C= (p.Pro30070=)
c.90206C= (p.Pro30069=)
c.87248C= (p.Pro29083=)
c.68864C= (p.Pro22955=)
c.90359C= (p.Pro30120=)
c.90356C= (p.Pro30119=)
c.89789C= (p.Pro29930=)
c.87131C= (p.Pro29044=)
c.87050C= (p.Pro29017=)
c.68813C= (p.Pro22938=)
c.58667C= (p.Pro19556=)
2g.178544311G>TCA349456037TTN,TTN-AS1c.88214C>A (p.Pro29405Gln)
c.69299C>A (p.Pro23100Gln)
c.69098C>A (p.Pro23033Gln)
c.68723C>A (p.Pro22908Gln)
c.95918C>A (p.Pro31973Gln)
c.90995C>A (p.Pro30332Gln)
n.446+20675G>T
n.2043+1950G>T
c.95015C>A (p.Pro31672Gln)
c.68909C>A (p.Pro22970Gln)
c.68768C>A (p.Pro22923Gln)
c.94811C>A (p.Pro31604Gln)
c.90209C>A (p.Pro30070Gln)
c.90206C>A (p.Pro30069Gln)
c.87248C>A (p.Pro29083Gln)
c.68864C>A (p.Pro22955Gln)
c.90359C>A (p.Pro30120Gln)
c.90356C>A (p.Pro30119Gln)
c.89789C>A (p.Pro29930Gln)
c.87131C>A (p.Pro29044Gln)
c.87050C>A (p.Pro29017Gln)
c.68813C>A (p.Pro22938Gln)
c.58667C>A (p.Pro19556Gln)
2g.178544312G>ACA349456042TTN,TTN-AS1c.88213C>T (p.Pro29405Ser)
c.69298C>T (p.Pro23100Ser)
c.69097C>T (p.Pro23033Ser)
c.68722C>T (p.Pro22908Ser)
c.95917C>T (p.Pro31973Ser)
c.90994C>T (p.Pro30332Ser)
n.446+20676G>A
n.2043+1951G>A
c.95014C>T (p.Pro31672Ser)
c.68908C>T (p.Pro22970Ser)
c.68767C>T (p.Pro22923Ser)
c.94810C>T (p.Pro31604Ser)
c.90208C>T (p.Pro30070Ser)
c.90205C>T (p.Pro30069Ser)
c.87247C>T (p.Pro29083Ser)
c.68863C>T (p.Pro22955Ser)
c.90358C>T (p.Pro30120Ser)
c.90355C>T (p.Pro30119Ser)
c.89788C>T (p.Pro29930Ser)
c.87130C>T (p.Pro29044Ser)
c.87049C>T (p.Pro29017Ser)
c.68812C>T (p.Pro22938Ser)
c.58666C>T (p.Pro19556Ser)
2g.178544312G>CCA349456046TTN,TTN-AS1c.88213C>G (p.Pro29405Ala)
c.69298C>G (p.Pro23100Ala)
c.69097C>G (p.Pro23033Ala)
c.68722C>G (p.Pro22908Ala)
c.95917C>G (p.Pro31973Ala)
c.90994C>G (p.Pro30332Ala)
n.446+20676G>C
n.2043+1951G>C
c.95014C>G (p.Pro31672Ala)
c.68908C>G (p.Pro22970Ala)
c.68767C>G (p.Pro22923Ala)
c.94810C>G (p.Pro31604Ala)
c.90208C>G (p.Pro30070Ala)
c.90205C>G (p.Pro30069Ala)
c.87247C>G (p.Pro29083Ala)
c.68863C>G (p.Pro22955Ala)
c.90358C>G (p.Pro30120Ala)
c.90355C>G (p.Pro30119Ala)
c.89788C>G (p.Pro29930Ala)
c.87130C>G (p.Pro29044Ala)
c.87049C>G (p.Pro29017Ala)
c.68812C>G (p.Pro22938Ala)
c.58666C>G (p.Pro19556Ala)
2g.178544312G>TCA349456049TTN,TTN-AS1c.88213C>A (p.Pro29405Thr)
c.69298C>A (p.Pro23100Thr)
c.69097C>A (p.Pro23033Thr)
c.68722C>A (p.Pro22908Thr)
c.95917C>A (p.Pro31973Thr)
c.90994C>A (p.Pro30332Thr)
n.446+20676G>T
n.2043+1951G>T
c.95014C>A (p.Pro31672Thr)
c.68908C>A (p.Pro22970Thr)
c.68767C>A (p.Pro22923Thr)
c.94810C>A (p.Pro31604Thr)
c.90208C>A (p.Pro30070Thr)
c.90205C>A (p.Pro30069Thr)
c.87247C>A (p.Pro29083Thr)
c.68863C>A (p.Pro22955Thr)
c.90358C>A (p.Pro30120Thr)
c.90355C>A (p.Pro30119Thr)
c.89788C>A (p.Pro29930Thr)
c.87130C>A (p.Pro29044Thr)
c.87049C>A (p.Pro29017Thr)
c.68812C>A (p.Pro22938Thr)
c.58666C>A (p.Pro19556Thr)
2g.178544313C>ACA430241690TTN,TTN-AS1c.88212G>T (p.Val29404=)
c.69297G>T (p.Val23099=)
c.69096G>T (p.Val23032=)
c.68721G>T (p.Val22907=)
c.95916G>T (p.Val31972=)
c.90993G>T (p.Val30331=)
n.446+20677C>A
n.2043+1952C>A
c.95013G>T (p.Val31671=)
c.68907G>T (p.Val22969=)
c.68766G>T (p.Val22922=)
c.94809G>T (p.Val31603=)
c.90207G>T (p.Val30069=)
c.90204G>T (p.Val30068=)
c.87246G>T (p.Val29082=)
c.68862G>T (p.Val22954=)
c.90357G>T (p.Val30119=)
c.90354G>T (p.Val30118=)
c.89787G>T (p.Val29929=)
c.87129G>T (p.Val29043=)
c.87048G>T (p.Val29016=)
c.68811G>T (p.Val22937=)
c.58665G>T (p.Val19555=)
2g.178544313C=CA1310521505TTN,TTN-AS1c.88212G= (p.Val29404=)
c.69297G= (p.Val23099=)
c.69096G= (p.Val23032=)
c.68721G= (p.Val22907=)
c.95916G= (p.Val31972=)
c.90993G= (p.Val30331=)
n.446+20677C=
n.2043+1952C=
c.95013G= (p.Val31671=)
c.68907G= (p.Val22969=)
c.68766G= (p.Val22922=)
c.94809G= (p.Val31603=)
c.90207G= (p.Val30069=)
c.90204G= (p.Val30068=)
c.87246G= (p.Val29082=)
c.68862G= (p.Val22954=)
c.90357G= (p.Val30119=)
c.90354G= (p.Val30118=)
c.89787G= (p.Val29929=)
c.87129G= (p.Val29043=)
c.87048G= (p.Val29016=)
c.68811G= (p.Val22937=)
c.58665G= (p.Val19555=)
2g.178544313C>GCA430241692TTN,TTN-AS1c.88212G>C (p.Val29404=)
c.69297G>C (p.Val23099=)
c.69096G>C (p.Val23032=)
c.68721G>C (p.Val22907=)
c.95916G>C (p.Val31972=)
c.90993G>C (p.Val30331=)
n.446+20677C>G
n.2043+1952C>G
c.95013G>C (p.Val31671=)
c.68907G>C (p.Val22969=)
c.68766G>C (p.Val22922=)
c.94809G>C (p.Val31603=)
c.90207G>C (p.Val30069=)
c.90204G>C (p.Val30068=)
c.87246G>C (p.Val29082=)
c.68862G>C (p.Val22954=)
c.90357G>C (p.Val30119=)
c.90354G>C (p.Val30118=)
c.89787G>C (p.Val29929=)
c.87129G>C (p.Val29043=)
c.87048G>C (p.Val29016=)
c.68811G>C (p.Val22937=)
c.58665G>C (p.Val19555=)
2g.178544313C>TCA60970576TTN,TTN-AS1c.88212G>A (p.Val29404=)
c.69297G>A (p.Val23099=)
c.69096G>A (p.Val23032=)
c.68721G>A (p.Val22907=)
c.95916G>A (p.Val31972=)
c.90993G>A (p.Val30331=)
n.446+20677C>T
n.2043+1952C>T
c.95013G>A (p.Val31671=)
c.68907G>A (p.Val22969=)
c.68766G>A (p.Val22922=)
c.94809G>A (p.Val31603=)
c.90207G>A (p.Val30069=)
c.90204G>A (p.Val30068=)
c.87246G>A (p.Val29082=)
c.68862G>A (p.Val22954=)
c.90357G>A (p.Val30119=)
c.90354G>A (p.Val30118=)
c.89787G>A (p.Val29929=)
c.87129G>A (p.Val29043=)
c.87048G>A (p.Val29016=)
c.68811G>A (p.Val22937=)
c.58665G>A (p.Val19555=)
 dbSNP gnomAD v4
2g.178544314A=CA1310521506TTN,TTN-AS1c.88211T= (p.Val29404=)
c.69296T= (p.Val23099=)
c.69095T= (p.Val23032=)
c.68720T= (p.Val22907=)
c.95915T= (p.Val31972=)
c.90992T= (p.Val30331=)
n.446+20678A=
n.2043+1953A=
c.95012T= (p.Val31671=)
c.68906T= (p.Val22969=)
c.68765T= (p.Val22922=)
c.94808T= (p.Val31603=)
c.90206T= (p.Val30069=)
c.90203T= (p.Val30068=)
c.87245T= (p.Val29082=)
c.68861T= (p.Val22954=)
c.90356T= (p.Val30119=)
c.90353T= (p.Val30118=)
c.89786T= (p.Val29929=)
c.87128T= (p.Val29043=)
c.87047T= (p.Val29016=)
c.68810T= (p.Val22937=)
c.58664T= (p.Val19555=)
2g.178544314A>CCA349456067TTN,TTN-AS1c.88211T>G (p.Val29404Gly)
c.69296T>G (p.Val23099Gly)
c.69095T>G (p.Val23032Gly)
c.68720T>G (p.Val22907Gly)
c.95915T>G (p.Val31972Gly)
c.90992T>G (p.Val30331Gly)
n.446+20678A>C
n.2043+1953A>C
c.95012T>G (p.Val31671Gly)
c.68906T>G (p.Val22969Gly)
c.68765T>G (p.Val22922Gly)
c.94808T>G (p.Val31603Gly)
c.90206T>G (p.Val30069Gly)
c.90203T>G (p.Val30068Gly)
c.87245T>G (p.Val29082Gly)
c.68861T>G (p.Val22954Gly)
c.90356T>G (p.Val30119Gly)
c.90353T>G (p.Val30118Gly)
c.89786T>G (p.Val29929Gly)
c.87128T>G (p.Val29043Gly)
c.87047T>G (p.Val29016Gly)
c.68810T>G (p.Val22937Gly)
c.58664T>G (p.Val19555Gly)
2g.178544314A>GCA349456063TTN,TTN-AS1c.88211T>C (p.Val29404Ala)
c.69296T>C (p.Val23099Ala)
c.69095T>C (p.Val23032Ala)
c.68720T>C (p.Val22907Ala)
c.95915T>C (p.Val31972Ala)
c.90992T>C (p.Val30331Ala)
n.446+20678A>G
n.2043+1953A>G
c.95012T>C (p.Val31671Ala)
c.68906T>C (p.Val22969Ala)
c.68765T>C (p.Val22922Ala)
c.94808T>C (p.Val31603Ala)
c.90206T>C (p.Val30069Ala)
c.90203T>C (p.Val30068Ala)
c.87245T>C (p.Val29082Ala)
c.68861T>C (p.Val22954Ala)
c.90356T>C (p.Val30119Ala)
c.90353T>C (p.Val30118Ala)
c.89786T>C (p.Val29929Ala)
c.87128T>C (p.Val29043Ala)
c.87047T>C (p.Val29016Ala)
c.68810T>C (p.Val22937Ala)
c.58664T>C (p.Val19555Ala)
 dbSNP
2g.178544314A>TCA349456072TTN,TTN-AS1c.88211T>A (p.Val29404Glu)
c.69296T>A (p.Val23099Glu)
c.69095T>A (p.Val23032Glu)
c.68720T>A (p.Val22907Glu)
c.95915T>A (p.Val31972Glu)
c.90992T>A (p.Val30331Glu)
n.446+20678A>T
n.2043+1953A>T
c.95012T>A (p.Val31671Glu)
c.68906T>A (p.Val22969Glu)
c.68765T>A (p.Val22922Glu)
c.94808T>A (p.Val31603Glu)
c.90206T>A (p.Val30069Glu)
c.90203T>A (p.Val30068Glu)
c.87245T>A (p.Val29082Glu)
c.68861T>A (p.Val22954Glu)
c.90356T>A (p.Val30119Glu)
c.90353T>A (p.Val30118Glu)
c.89786T>A (p.Val29929Glu)
c.87128T>A (p.Val29043Glu)
c.87047T>A (p.Val29016Glu)
c.68810T>A (p.Val22937Glu)
c.58664T>A (p.Val19555Glu)
2g.178544315C>ACA349456074TTN,TTN-AS1c.88210G>T (p.Val29404Leu)
c.69295G>T (p.Val23099Leu)
c.69094G>T (p.Val23032Leu)
c.68719G>T (p.Val22907Leu)
c.95914G>T (p.Val31972Leu)
c.90991G>T (p.Val30331Leu)
n.446+20679C>A
n.2043+1954C>A
c.95011G>T (p.Val31671Leu)
c.68905G>T (p.Val22969Leu)
c.68764G>T (p.Val22922Leu)
c.94807G>T (p.Val31603Leu)
c.90205G>T (p.Val30069Leu)
c.90202G>T (p.Val30068Leu)
c.87244G>T (p.Val29082Leu)
c.68860G>T (p.Val22954Leu)
c.90355G>T (p.Val30119Leu)
c.90352G>T (p.Val30118Leu)
c.89785G>T (p.Val29929Leu)
c.87127G>T (p.Val29043Leu)
c.87046G>T (p.Val29016Leu)
c.68809G>T (p.Val22937Leu)
c.58663G>T (p.Val19555Leu)
2g.178544315C=CA1310521508TTN,TTN-AS1c.88210G= (p.Val29404=)
c.69295G= (p.Val23099=)
c.69094G= (p.Val23032=)
c.68719G= (p.Val22907=)
c.95914G= (p.Val31972=)
c.90991G= (p.Val30331=)
n.446+20679C=
n.2043+1954C=
c.95011G= (p.Val31671=)
c.68905G= (p.Val22969=)
c.68764G= (p.Val22922=)
c.94807G= (p.Val31603=)
c.90205G= (p.Val30069=)
c.90202G= (p.Val30068=)
c.87244G= (p.Val29082=)
c.68860G= (p.Val22954=)
c.90355G= (p.Val30119=)
c.90352G= (p.Val30118=)
c.89785G= (p.Val29929=)
c.87127G= (p.Val29043=)
c.87046G= (p.Val29016=)
c.68809G= (p.Val22937=)
c.58663G= (p.Val19555=)
2g.178544315C>GCA349456079TTN,TTN-AS1c.88210G>C (p.Val29404Leu)
c.69295G>C (p.Val23099Leu)
c.69094G>C (p.Val23032Leu)
c.68719G>C (p.Val22907Leu)
c.95914G>C (p.Val31972Leu)
c.90991G>C (p.Val30331Leu)
n.446+20679C>G
n.2043+1954C>G
c.95011G>C (p.Val31671Leu)
c.68905G>C (p.Val22969Leu)
c.68764G>C (p.Val22922Leu)
c.94807G>C (p.Val31603Leu)
c.90205G>C (p.Val30069Leu)
c.90202G>C (p.Val30068Leu)
c.87244G>C (p.Val29082Leu)
c.68860G>C (p.Val22954Leu)
c.90355G>C (p.Val30119Leu)
c.90352G>C (p.Val30118Leu)
c.89785G>C (p.Val29929Leu)
c.87127G>C (p.Val29043Leu)
c.87046G>C (p.Val29016Leu)
c.68809G>C (p.Val22937Leu)
c.58663G>C (p.Val19555Leu)
2g.178544315C>TCA1986855TTN,TTN-AS1c.88210G>A (p.Val29404Met)
c.69295G>A (p.Val23099Met)
c.69094G>A (p.Val23032Met)
c.68719G>A (p.Val22907Met)
c.95914G>A (p.Val31972Met)
c.90991G>A (p.Val30331Met)
n.446+20679C>T
n.2043+1954C>T
c.95011G>A (p.Val31671Met)
c.68905G>A (p.Val22969Met)
c.68764G>A (p.Val22922Met)
c.94807G>A (p.Val31603Met)
c.90205G>A (p.Val30069Met)
c.90202G>A (p.Val30068Met)
c.87244G>A (p.Val29082Met)
c.68860G>A (p.Val22954Met)
c.90355G>A (p.Val30119Met)
c.90352G>A (p.Val30118Met)
c.89785G>A (p.Val29929Met)
c.87127G>A (p.Val29043Met)
c.87046G>A (p.Val29016Met)
c.68809G>A (p.Val22937Met)
c.58663G>A (p.Val19555Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544316A=CA1310521510TTN,TTN-AS1c.88209T= (p.Thr29403=)
c.69294T= (p.Thr23098=)
c.69093T= (p.Thr23031=)
c.68718T= (p.Thr22906=)
c.95913T= (p.Thr31971=)
c.90990T= (p.Thr30330=)
n.446+20680A=
n.2043+1955A=
c.95010T= (p.Thr31670=)
c.68904T= (p.Thr22968=)
c.68763T= (p.Thr22921=)
c.94806T= (p.Thr31602=)
c.90204T= (p.Thr30068=)
c.90201T= (p.Thr30067=)
c.87243T= (p.Thr29081=)
c.68859T= (p.Thr22953=)
c.90354T= (p.Thr30118=)
c.90351T= (p.Thr30117=)
c.89784T= (p.Thr29928=)
c.87126T= (p.Thr29042=)
c.87045T= (p.Thr29015=)
c.68808T= (p.Thr22936=)
c.58662T= (p.Thr19554=)
2g.178544316A>CCA430241698TTN,TTN-AS1c.88209T>G (p.Thr29403=)
c.69294T>G (p.Thr23098=)
c.69093T>G (p.Thr23031=)
c.68718T>G (p.Thr22906=)
c.95913T>G (p.Thr31971=)
c.90990T>G (p.Thr30330=)
n.446+20680A>C
n.2043+1955A>C
c.95010T>G (p.Thr31670=)
c.68904T>G (p.Thr22968=)
c.68763T>G (p.Thr22921=)
c.94806T>G (p.Thr31602=)
c.90204T>G (p.Thr30068=)
c.90201T>G (p.Thr30067=)
c.87243T>G (p.Thr29081=)
c.68859T>G (p.Thr22953=)
c.90354T>G (p.Thr30118=)
c.90351T>G (p.Thr30117=)
c.89784T>G (p.Thr29928=)
c.87126T>G (p.Thr29042=)
c.87045T>G (p.Thr29015=)
c.68808T>G (p.Thr22936=)
c.58662T>G (p.Thr19554=)
 ClinVar gnomAD v4
2g.178544316A>GCA430241699TTN,TTN-AS1c.88209T>C (p.Thr29403=)
c.69294T>C (p.Thr23098=)
c.69093T>C (p.Thr23031=)
c.68718T>C (p.Thr22906=)
c.95913T>C (p.Thr31971=)
c.90990T>C (p.Thr30330=)
n.446+20680A>G
n.2043+1955A>G
c.95010T>C (p.Thr31670=)
c.68904T>C (p.Thr22968=)
c.68763T>C (p.Thr22921=)
c.94806T>C (p.Thr31602=)
c.90204T>C (p.Thr30068=)
c.90201T>C (p.Thr30067=)
c.87243T>C (p.Thr29081=)
c.68859T>C (p.Thr22953=)
c.90354T>C (p.Thr30118=)
c.90351T>C (p.Thr30117=)
c.89784T>C (p.Thr29928=)
c.87126T>C (p.Thr29042=)
c.87045T>C (p.Thr29015=)
c.68808T>C (p.Thr22936=)
c.58662T>C (p.Thr19554=)
 dbSNP gnomAD v4
2g.178544316A>TCA430241700TTN,TTN-AS1c.88209T>A (p.Thr29403=)
c.69294T>A (p.Thr23098=)
c.69093T>A (p.Thr23031=)
c.68718T>A (p.Thr22906=)
c.95913T>A (p.Thr31971=)
c.90990T>A (p.Thr30330=)
n.446+20680A>T
n.2043+1955A>T
c.95010T>A (p.Thr31670=)
c.68904T>A (p.Thr22968=)
c.68763T>A (p.Thr22921=)
c.94806T>A (p.Thr31602=)
c.90204T>A (p.Thr30068=)
c.90201T>A (p.Thr30067=)
c.87243T>A (p.Thr29081=)
c.68859T>A (p.Thr22953=)
c.90354T>A (p.Thr30118=)
c.90351T>A (p.Thr30117=)
c.89784T>A (p.Thr29928=)
c.87126T>A (p.Thr29042=)
c.87045T>A (p.Thr29015=)
c.68808T>A (p.Thr22936=)
c.58662T>A (p.Thr19554=)
2g.178544317G>ACA349456081TTN,TTN-AS1c.88208C>T (p.Thr29403Ile)
c.69293C>T (p.Thr23098Ile)
c.69092C>T (p.Thr23031Ile)
c.68717C>T (p.Thr22906Ile)
c.95912C>T (p.Thr31971Ile)
c.90989C>T (p.Thr30330Ile)
n.446+20681G>A
n.2043+1956G>A
c.95009C>T (p.Thr31670Ile)
c.68903C>T (p.Thr22968Ile)
c.68762C>T (p.Thr22921Ile)
c.94805C>T (p.Thr31602Ile)
c.90203C>T (p.Thr30068Ile)
c.90200C>T (p.Thr30067Ile)
c.87242C>T (p.Thr29081Ile)
c.68858C>T (p.Thr22953Ile)
c.90353C>T (p.Thr30118Ile)
c.90350C>T (p.Thr30117Ile)
c.89783C>T (p.Thr29928Ile)
c.87125C>T (p.Thr29042Ile)
c.87044C>T (p.Thr29015Ile)
c.68807C>T (p.Thr22936Ile)
c.58661C>T (p.Thr19554Ile)
2g.178544317G>CCA349456083TTN,TTN-AS1c.88208C>G (p.Thr29403Ser)
c.69293C>G (p.Thr23098Ser)
c.69092C>G (p.Thr23031Ser)
c.68717C>G (p.Thr22906Ser)
c.95912C>G (p.Thr31971Ser)
c.90989C>G (p.Thr30330Ser)
n.446+20681G>C
n.2043+1956G>C
c.95009C>G (p.Thr31670Ser)
c.68903C>G (p.Thr22968Ser)
c.68762C>G (p.Thr22921Ser)
c.94805C>G (p.Thr31602Ser)
c.90203C>G (p.Thr30068Ser)
c.90200C>G (p.Thr30067Ser)
c.87242C>G (p.Thr29081Ser)
c.68858C>G (p.Thr22953Ser)
c.90353C>G (p.Thr30118Ser)
c.90350C>G (p.Thr30117Ser)
c.89783C>G (p.Thr29928Ser)
c.87125C>G (p.Thr29042Ser)
c.87044C>G (p.Thr29015Ser)
c.68807C>G (p.Thr22936Ser)
c.58661C>G (p.Thr19554Ser)
2g.178544317G>TCA349456084TTN,TTN-AS1c.88208C>A (p.Thr29403Asn)
c.69293C>A (p.Thr23098Asn)
c.69092C>A (p.Thr23031Asn)
c.68717C>A (p.Thr22906Asn)
c.95912C>A (p.Thr31971Asn)
c.90989C>A (p.Thr30330Asn)
n.446+20681G>T
n.2043+1956G>T
c.95009C>A (p.Thr31670Asn)
c.68903C>A (p.Thr22968Asn)
c.68762C>A (p.Thr22921Asn)
c.94805C>A (p.Thr31602Asn)
c.90203C>A (p.Thr30068Asn)
c.90200C>A (p.Thr30067Asn)
c.87242C>A (p.Thr29081Asn)
c.68858C>A (p.Thr22953Asn)
c.90353C>A (p.Thr30118Asn)
c.90350C>A (p.Thr30117Asn)
c.89783C>A (p.Thr29928Asn)
c.87125C>A (p.Thr29042Asn)
c.87044C>A (p.Thr29015Asn)
c.68807C>A (p.Thr22936Asn)
c.58661C>A (p.Thr19554Asn)
2g.178544318T>ACA349456088TTN,TTN-AS1c.88207A>T (p.Thr29403Ser)
c.69292A>T (p.Thr23098Ser)
c.69091A>T (p.Thr23031Ser)
c.68716A>T (p.Thr22906Ser)
c.95911A>T (p.Thr31971Ser)
c.90988A>T (p.Thr30330Ser)
n.446+20682T>A
n.2043+1957T>A
c.95008A>T (p.Thr31670Ser)
c.68902A>T (p.Thr22968Ser)
c.68761A>T (p.Thr22921Ser)
c.94804A>T (p.Thr31602Ser)
c.90202A>T (p.Thr30068Ser)
c.90199A>T (p.Thr30067Ser)
c.87241A>T (p.Thr29081Ser)
c.68857A>T (p.Thr22953Ser)
c.90352A>T (p.Thr30118Ser)
c.90349A>T (p.Thr30117Ser)
c.89782A>T (p.Thr29928Ser)
c.87124A>T (p.Thr29042Ser)
c.87043A>T (p.Thr29015Ser)
c.68806A>T (p.Thr22936Ser)
c.58660A>T (p.Thr19554Ser)
2g.178544318T>CCA349456090TTN,TTN-AS1c.88207A>G (p.Thr29403Ala)
c.69292A>G (p.Thr23098Ala)
c.69091A>G (p.Thr23031Ala)
c.68716A>G (p.Thr22906Ala)
c.95911A>G (p.Thr31971Ala)
c.90988A>G (p.Thr30330Ala)
n.446+20682T>C
n.2043+1957T>C
c.95008A>G (p.Thr31670Ala)
c.68902A>G (p.Thr22968Ala)
c.68761A>G (p.Thr22921Ala)
c.94804A>G (p.Thr31602Ala)
c.90202A>G (p.Thr30068Ala)
c.90199A>G (p.Thr30067Ala)
c.87241A>G (p.Thr29081Ala)
c.68857A>G (p.Thr22953Ala)
c.90352A>G (p.Thr30118Ala)
c.90349A>G (p.Thr30117Ala)
c.89782A>G (p.Thr29928Ala)
c.87124A>G (p.Thr29042Ala)
c.87043A>G (p.Thr29015Ala)
c.68806A>G (p.Thr22936Ala)
c.58660A>G (p.Thr19554Ala)
2g.178544318T>GCA349456103TTN,TTN-AS1c.88207A>C (p.Thr29403Pro)
c.69292A>C (p.Thr23098Pro)
c.69091A>C (p.Thr23031Pro)
c.68716A>C (p.Thr22906Pro)
c.95911A>C (p.Thr31971Pro)
c.90988A>C (p.Thr30330Pro)
n.446+20682T>G
n.2043+1957T>G
c.95008A>C (p.Thr31670Pro)
c.68902A>C (p.Thr22968Pro)
c.68761A>C (p.Thr22921Pro)
c.94804A>C (p.Thr31602Pro)
c.90202A>C (p.Thr30068Pro)
c.90199A>C (p.Thr30067Pro)
c.87241A>C (p.Thr29081Pro)
c.68857A>C (p.Thr22953Pro)
c.90352A>C (p.Thr30118Pro)
c.90349A>C (p.Thr30117Pro)
c.89782A>C (p.Thr29928Pro)
c.87124A>C (p.Thr29042Pro)
c.87043A>C (p.Thr29015Pro)
c.68806A>C (p.Thr22936Pro)
c.58660A>C (p.Thr19554Pro)
2g.178544319G>ACA430241707TTN,TTN-AS1c.88206C>T (p.Phe29402=)
c.69291C>T (p.Phe23097=)
c.69090C>T (p.Phe23030=)
c.68715C>T (p.Phe22905=)
c.95910C>T (p.Phe31970=)
c.90987C>T (p.Phe30329=)
n.446+20683G>A
n.2043+1958G>A
c.95007C>T (p.Phe31669=)
c.68901C>T (p.Phe22967=)
c.68760C>T (p.Phe22920=)
c.94803C>T (p.Phe31601=)
c.90201C>T (p.Phe30067=)
c.90198C>T (p.Phe30066=)
c.87240C>T (p.Phe29080=)
c.68856C>T (p.Phe22952=)
c.90351C>T (p.Phe30117=)
c.90348C>T (p.Phe30116=)
c.89781C>T (p.Phe29927=)
c.87123C>T (p.Phe29041=)
c.87042C>T (p.Phe29014=)
c.68805C>T (p.Phe22935=)
c.58659C>T (p.Phe19553=)
2g.178544319G>CCA349456105TTN,TTN-AS1c.88206C>G (p.Phe29402Leu)
c.69291C>G (p.Phe23097Leu)
c.69090C>G (p.Phe23030Leu)
c.68715C>G (p.Phe22905Leu)
c.95910C>G (p.Phe31970Leu)
c.90987C>G (p.Phe30329Leu)
n.446+20683G>C
n.2043+1958G>C
c.95007C>G (p.Phe31669Leu)
c.68901C>G (p.Phe22967Leu)
c.68760C>G (p.Phe22920Leu)
c.94803C>G (p.Phe31601Leu)
c.90201C>G (p.Phe30067Leu)
c.90198C>G (p.Phe30066Leu)
c.87240C>G (p.Phe29080Leu)
c.68856C>G (p.Phe22952Leu)
c.90351C>G (p.Phe30117Leu)
c.90348C>G (p.Phe30116Leu)
c.89781C>G (p.Phe29927Leu)
c.87123C>G (p.Phe29041Leu)
c.87042C>G (p.Phe29014Leu)
c.68805C>G (p.Phe22935Leu)
c.58659C>G (p.Phe19553Leu)
 gnomAD v4
2g.178544319G>TCA349456109TTN,TTN-AS1c.88206C>A (p.Phe29402Leu)
c.69291C>A (p.Phe23097Leu)
c.69090C>A (p.Phe23030Leu)
c.68715C>A (p.Phe22905Leu)
c.95910C>A (p.Phe31970Leu)
c.90987C>A (p.Phe30329Leu)
n.446+20683G>T
n.2043+1958G>T
c.95007C>A (p.Phe31669Leu)
c.68901C>A (p.Phe22967Leu)
c.68760C>A (p.Phe22920Leu)
c.94803C>A (p.Phe31601Leu)
c.90201C>A (p.Phe30067Leu)
c.90198C>A (p.Phe30066Leu)
c.87240C>A (p.Phe29080Leu)
c.68856C>A (p.Phe22952Leu)
c.90351C>A (p.Phe30117Leu)
c.90348C>A (p.Phe30116Leu)
c.89781C>A (p.Phe29927Leu)
c.87123C>A (p.Phe29041Leu)
c.87042C>A (p.Phe29014Leu)
c.68805C>A (p.Phe22935Leu)
c.58659C>A (p.Phe19553Leu)

Number of alleles fetched