Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178548655C>ACA349488975TTN,TTN-AS1c.85267G>T (p.Ala28423Ser)
c.66352G>T (p.Ala22118Ser)
c.66151G>T (p.Ala22051Ser)
c.65776G>T (p.Ala21926Ser)
c.92971G>T (p.Ala30991Ser)
c.88048G>T (p.Ala29350Ser)
n.447-22645C>A
n.2043+6294C>A
c.92068G>T (p.Ala30690Ser)
c.65962G>T (p.Ala21988Ser)
c.65821G>T (p.Ala21941Ser)
c.91864G>T (p.Ala30622Ser)
c.87262G>T (p.Ala29088Ser)
c.87259G>T (p.Ala29087Ser)
c.84301G>T (p.Ala28101Ser)
c.65917G>T (p.Ala21973Ser)
c.87412G>T (p.Ala29138Ser)
c.87409G>T (p.Ala29137Ser)
c.86842G>T (p.Ala28948Ser)
c.84184G>T (p.Ala28062Ser)
c.84103G>T (p.Ala28035Ser)
c.65866G>T (p.Ala21956Ser)
c.55720G>T (p.Ala18574Ser)
2g.178548655C>GCA349488977TTN,TTN-AS1c.85267G>C (p.Ala28423Pro)
c.66352G>C (p.Ala22118Pro)
c.66151G>C (p.Ala22051Pro)
c.65776G>C (p.Ala21926Pro)
c.92971G>C (p.Ala30991Pro)
c.88048G>C (p.Ala29350Pro)
n.447-22645C>G
n.2043+6294C>G
c.92068G>C (p.Ala30690Pro)
c.65962G>C (p.Ala21988Pro)
c.65821G>C (p.Ala21941Pro)
c.91864G>C (p.Ala30622Pro)
c.87262G>C (p.Ala29088Pro)
c.87259G>C (p.Ala29087Pro)
c.84301G>C (p.Ala28101Pro)
c.65917G>C (p.Ala21973Pro)
c.87412G>C (p.Ala29138Pro)
c.87409G>C (p.Ala29137Pro)
c.86842G>C (p.Ala28948Pro)
c.84184G>C (p.Ala28062Pro)
c.84103G>C (p.Ala28035Pro)
c.65866G>C (p.Ala21956Pro)
c.55720G>C (p.Ala18574Pro)
2g.178548655C>TCA349488978TTN,TTN-AS1c.85267G>A (p.Ala28423Thr)
c.66352G>A (p.Ala22118Thr)
c.66151G>A (p.Ala22051Thr)
c.65776G>A (p.Ala21926Thr)
c.92971G>A (p.Ala30991Thr)
c.88048G>A (p.Ala29350Thr)
n.447-22645C>T
n.2043+6294C>T
c.92068G>A (p.Ala30690Thr)
c.65962G>A (p.Ala21988Thr)
c.65821G>A (p.Ala21941Thr)
c.91864G>A (p.Ala30622Thr)
c.87262G>A (p.Ala29088Thr)
c.87259G>A (p.Ala29087Thr)
c.84301G>A (p.Ala28101Thr)
c.65917G>A (p.Ala21973Thr)
c.87412G>A (p.Ala29138Thr)
c.87409G>A (p.Ala29137Thr)
c.86842G>A (p.Ala28948Thr)
c.84184G>A (p.Ala28062Thr)
c.84103G>A (p.Ala28035Thr)
c.65866G>A (p.Ala21956Thr)
c.55720G>A (p.Ala18574Thr)
2g.178548656A=CA1310524584TTN,TTN-AS1c.85266T= (p.Asp28422=)
c.66351T= (p.Asp22117=)
c.66150T= (p.Asp22050=)
c.65775T= (p.Asp21925=)
c.92970T= (p.Asp30990=)
c.88047T= (p.Asp29349=)
n.447-22644A=
n.2043+6295A=
c.92067T= (p.Asp30689=)
c.65961T= (p.Asp21987=)
c.65820T= (p.Asp21940=)
c.91863T= (p.Asp30621=)
c.87261T= (p.Asp29087=)
c.87258T= (p.Asp29086=)
c.84300T= (p.Asp28100=)
c.65916T= (p.Asp21972=)
c.87411T= (p.Asp29137=)
c.87408T= (p.Asp29136=)
c.86841T= (p.Asp28947=)
c.84183T= (p.Asp28061=)
c.84102T= (p.Asp28034=)
c.65865T= (p.Asp21955=)
c.55719T= (p.Asp18573=)
2g.178548656A>CCA1987373TTN,TTN-AS1c.85266T>G (p.Asp28422Glu)
c.66351T>G (p.Asp22117Glu)
c.66150T>G (p.Asp22050Glu)
c.65775T>G (p.Asp21925Glu)
c.92970T>G (p.Asp30990Glu)
c.88047T>G (p.Asp29349Glu)
n.447-22644A>C
n.2043+6295A>C
c.92067T>G (p.Asp30689Glu)
c.65961T>G (p.Asp21987Glu)
c.65820T>G (p.Asp21940Glu)
c.91863T>G (p.Asp30621Glu)
c.87261T>G (p.Asp29087Glu)
c.87258T>G (p.Asp29086Glu)
c.84300T>G (p.Asp28100Glu)
c.65916T>G (p.Asp21972Glu)
c.87411T>G (p.Asp29137Glu)
c.87408T>G (p.Asp29136Glu)
c.86841T>G (p.Asp28947Glu)
c.84183T>G (p.Asp28061Glu)
c.84102T>G (p.Asp28034Glu)
c.65865T>G (p.Asp21955Glu)
c.55719T>G (p.Asp18573Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178548656A>GCA430243367TTN,TTN-AS1c.85266T>C (p.Asp28422=)
c.66351T>C (p.Asp22117=)
c.66150T>C (p.Asp22050=)
c.65775T>C (p.Asp21925=)
c.92970T>C (p.Asp30990=)
c.88047T>C (p.Asp29349=)
n.447-22644A>G
n.2043+6295A>G
c.92067T>C (p.Asp30689=)
c.65961T>C (p.Asp21987=)
c.65820T>C (p.Asp21940=)
c.91863T>C (p.Asp30621=)
c.87261T>C (p.Asp29087=)
c.87258T>C (p.Asp29086=)
c.84300T>C (p.Asp28100=)
c.65916T>C (p.Asp21972=)
c.87411T>C (p.Asp29137=)
c.87408T>C (p.Asp29136=)
c.86841T>C (p.Asp28947=)
c.84183T>C (p.Asp28061=)
c.84102T>C (p.Asp28034=)
c.65865T>C (p.Asp21955=)
c.55719T>C (p.Asp18573=)
2g.178548656A>TCA349489003TTN,TTN-AS1c.85266T>A (p.Asp28422Glu)
c.66351T>A (p.Asp22117Glu)
c.66150T>A (p.Asp22050Glu)
c.65775T>A (p.Asp21925Glu)
c.92970T>A (p.Asp30990Glu)
c.88047T>A (p.Asp29349Glu)
n.447-22644A>T
n.2043+6295A>T
c.92067T>A (p.Asp30689Glu)
c.65961T>A (p.Asp21987Glu)
c.65820T>A (p.Asp21940Glu)
c.91863T>A (p.Asp30621Glu)
c.87261T>A (p.Asp29087Glu)
c.87258T>A (p.Asp29086Glu)
c.84300T>A (p.Asp28100Glu)
c.65916T>A (p.Asp21972Glu)
c.87411T>A (p.Asp29137Glu)
c.87408T>A (p.Asp29136Glu)
c.86841T>A (p.Asp28947Glu)
c.84183T>A (p.Asp28061Glu)
c.84102T>A (p.Asp28034Glu)
c.65865T>A (p.Asp21955Glu)
c.55719T>A (p.Asp18573Glu)
2g.178548657T>ACA349489032TTN,TTN-AS1c.85265A>T (p.Asp28422Val)
c.66350A>T (p.Asp22117Val)
c.66149A>T (p.Asp22050Val)
c.65774A>T (p.Asp21925Val)
c.92969A>T (p.Asp30990Val)
c.88046A>T (p.Asp29349Val)
n.447-22643T>A
n.2043+6296T>A
c.92066A>T (p.Asp30689Val)
c.65960A>T (p.Asp21987Val)
c.65819A>T (p.Asp21940Val)
c.91862A>T (p.Asp30621Val)
c.87260A>T (p.Asp29087Val)
c.87257A>T (p.Asp29086Val)
c.84299A>T (p.Asp28100Val)
c.65915A>T (p.Asp21972Val)
c.87410A>T (p.Asp29137Val)
c.87407A>T (p.Asp29136Val)
c.86840A>T (p.Asp28947Val)
c.84182A>T (p.Asp28061Val)
c.84101A>T (p.Asp28034Val)
c.65864A>T (p.Asp21955Val)
c.55718A>T (p.Asp18573Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178548657T>CCA349489034TTN,TTN-AS1c.85265A>G (p.Asp28422Gly)
c.66350A>G (p.Asp22117Gly)
c.66149A>G (p.Asp22050Gly)
c.65774A>G (p.Asp21925Gly)
c.92969A>G (p.Asp30990Gly)
c.88046A>G (p.Asp29349Gly)
n.447-22643T>C
n.2043+6296T>C
c.92066A>G (p.Asp30689Gly)
c.65960A>G (p.Asp21987Gly)
c.65819A>G (p.Asp21940Gly)
c.91862A>G (p.Asp30621Gly)
c.87260A>G (p.Asp29087Gly)
c.87257A>G (p.Asp29086Gly)
c.84299A>G (p.Asp28100Gly)
c.65915A>G (p.Asp21972Gly)
c.87410A>G (p.Asp29137Gly)
c.87407A>G (p.Asp29136Gly)
c.86840A>G (p.Asp28947Gly)
c.84182A>G (p.Asp28061Gly)
c.84101A>G (p.Asp28034Gly)
c.65864A>G (p.Asp21955Gly)
c.55718A>G (p.Asp18573Gly)
2g.178548657T>GCA349489040TTN,TTN-AS1c.85265A>C (p.Asp28422Ala)
c.66350A>C (p.Asp22117Ala)
c.66149A>C (p.Asp22050Ala)
c.65774A>C (p.Asp21925Ala)
c.92969A>C (p.Asp30990Ala)
c.88046A>C (p.Asp29349Ala)
n.447-22643T>G
n.2043+6296T>G
c.92066A>C (p.Asp30689Ala)
c.65960A>C (p.Asp21987Ala)
c.65819A>C (p.Asp21940Ala)
c.91862A>C (p.Asp30621Ala)
c.87260A>C (p.Asp29087Ala)
c.87257A>C (p.Asp29086Ala)
c.84299A>C (p.Asp28100Ala)
c.65915A>C (p.Asp21972Ala)
c.87410A>C (p.Asp29137Ala)
c.87407A>C (p.Asp29136Ala)
c.86840A>C (p.Asp28947Ala)
c.84182A>C (p.Asp28061Ala)
c.84101A>C (p.Asp28034Ala)
c.65864A>C (p.Asp21955Ala)
c.55718A>C (p.Asp18573Ala)
2g.178548657T=CA1310524585TTN,TTN-AS1c.85265A= (p.Asp28422=)
c.66350A= (p.Asp22117=)
c.66149A= (p.Asp22050=)
c.65774A= (p.Asp21925=)
c.92969A= (p.Asp30990=)
c.88046A= (p.Asp29349=)
n.447-22643T=
n.2043+6296T=
c.92066A= (p.Asp30689=)
c.65960A= (p.Asp21987=)
c.65819A= (p.Asp21940=)
c.91862A= (p.Asp30621=)
c.87260A= (p.Asp29087=)
c.87257A= (p.Asp29086=)
c.84299A= (p.Asp28100=)
c.65915A= (p.Asp21972=)
c.87410A= (p.Asp29137=)
c.87407A= (p.Asp29136=)
c.86840A= (p.Asp28947=)
c.84182A= (p.Asp28061=)
c.84101A= (p.Asp28034=)
c.65864A= (p.Asp21955=)
c.55718A= (p.Asp18573=)
2g.178548658C>ACA349489043TTN,TTN-AS1c.85264G>T (p.Asp28422Tyr)
c.66349G>T (p.Asp22117Tyr)
c.66148G>T (p.Asp22050Tyr)
c.65773G>T (p.Asp21925Tyr)
c.92968G>T (p.Asp30990Tyr)
c.88045G>T (p.Asp29349Tyr)
n.447-22642C>A
n.2043+6297C>A
c.92065G>T (p.Asp30689Tyr)
c.65959G>T (p.Asp21987Tyr)
c.65818G>T (p.Asp21940Tyr)
c.91861G>T (p.Asp30621Tyr)
c.87259G>T (p.Asp29087Tyr)
c.87256G>T (p.Asp29086Tyr)
c.84298G>T (p.Asp28100Tyr)
c.65914G>T (p.Asp21972Tyr)
c.87409G>T (p.Asp29137Tyr)
c.87406G>T (p.Asp29136Tyr)
c.86839G>T (p.Asp28947Tyr)
c.84181G>T (p.Asp28061Tyr)
c.84100G>T (p.Asp28034Tyr)
c.65863G>T (p.Asp21955Tyr)
c.55717G>T (p.Asp18573Tyr)
 gnomAD v4
2g.178548658C=CA1310524586TTN,TTN-AS1c.85264G= (p.Asp28422=)
c.66349G= (p.Asp22117=)
c.66148G= (p.Asp22050=)
c.65773G= (p.Asp21925=)
c.92968G= (p.Asp30990=)
c.88045G= (p.Asp29349=)
n.447-22642C=
n.2043+6297C=
c.92065G= (p.Asp30689=)
c.65959G= (p.Asp21987=)
c.65818G= (p.Asp21940=)
c.91861G= (p.Asp30621=)
c.87259G= (p.Asp29087=)
c.87256G= (p.Asp29086=)
c.84298G= (p.Asp28100=)
c.65914G= (p.Asp21972=)
c.87409G= (p.Asp29137=)
c.87406G= (p.Asp29136=)
c.86839G= (p.Asp28947=)
c.84181G= (p.Asp28061=)
c.84100G= (p.Asp28034=)
c.65863G= (p.Asp21955=)
c.55717G= (p.Asp18573=)
2g.178548658C>GCA349489068TTN,TTN-AS1c.85264G>C (p.Asp28422His)
c.66349G>C (p.Asp22117His)
c.66148G>C (p.Asp22050His)
c.65773G>C (p.Asp21925His)
c.92968G>C (p.Asp30990His)
c.88045G>C (p.Asp29349His)
n.447-22642C>G
n.2043+6297C>G
c.92065G>C (p.Asp30689His)
c.65959G>C (p.Asp21987His)
c.65818G>C (p.Asp21940His)
c.91861G>C (p.Asp30621His)
c.87259G>C (p.Asp29087His)
c.87256G>C (p.Asp29086His)
c.84298G>C (p.Asp28100His)
c.65914G>C (p.Asp21972His)
c.87409G>C (p.Asp29137His)
c.87406G>C (p.Asp29136His)
c.86839G>C (p.Asp28947His)
c.84181G>C (p.Asp28061His)
c.84100G>C (p.Asp28034His)
c.65863G>C (p.Asp21955His)
c.55717G>C (p.Asp18573His)
 dbSNP gnomAD v3 gnomAD v4
2g.178548658C>TCA1987374TTN,TTN-AS1c.85264G>A (p.Asp28422Asn)
c.66349G>A (p.Asp22117Asn)
c.66148G>A (p.Asp22050Asn)
c.65773G>A (p.Asp21925Asn)
c.92968G>A (p.Asp30990Asn)
c.88045G>A (p.Asp29349Asn)
n.447-22642C>T
n.2043+6297C>T
c.92065G>A (p.Asp30689Asn)
c.65959G>A (p.Asp21987Asn)
c.65818G>A (p.Asp21940Asn)
c.91861G>A (p.Asp30621Asn)
c.87259G>A (p.Asp29087Asn)
c.87256G>A (p.Asp29086Asn)
c.84298G>A (p.Asp28100Asn)
c.65914G>A (p.Asp21972Asn)
c.87409G>A (p.Asp29137Asn)
c.87406G>A (p.Asp29136Asn)
c.86839G>A (p.Asp28947Asn)
c.84181G>A (p.Asp28061Asn)
c.84100G>A (p.Asp28034Asn)
c.65863G>A (p.Asp21955Asn)
c.55717G>A (p.Asp18573Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178548659A=CA1310524587TTN,TTN-AS1c.85263T= (p.Asn28421=)
c.66348T= (p.Asn22116=)
c.66147T= (p.Asn22049=)
c.65772T= (p.Asn21924=)
c.92967T= (p.Asn30989=)
c.88044T= (p.Asn29348=)
n.447-22641A=
n.2043+6298A=
c.92064T= (p.Asn30688=)
c.65958T= (p.Asn21986=)
c.65817T= (p.Asn21939=)
c.91860T= (p.Asn30620=)
c.87258T= (p.Asn29086=)
c.87255T= (p.Asn29085=)
c.84297T= (p.Asn28099=)
c.65913T= (p.Asn21971=)
c.87408T= (p.Asn29136=)
c.87405T= (p.Asn29135=)
c.86838T= (p.Asn28946=)
c.84180T= (p.Asn28060=)
c.84099T= (p.Asn28033=)
c.65862T= (p.Asn21954=)
c.55716T= (p.Asn18572=)
2g.178548659A>CCA349489072TTN,TTN-AS1c.85263T>G (p.Asn28421Lys)
c.66348T>G (p.Asn22116Lys)
c.66147T>G (p.Asn22049Lys)
c.65772T>G (p.Asn21924Lys)
c.92967T>G (p.Asn30989Lys)
c.88044T>G (p.Asn29348Lys)
n.447-22641A>C
n.2043+6298A>C
c.92064T>G (p.Asn30688Lys)
c.65958T>G (p.Asn21986Lys)
c.65817T>G (p.Asn21939Lys)
c.91860T>G (p.Asn30620Lys)
c.87258T>G (p.Asn29086Lys)
c.87255T>G (p.Asn29085Lys)
c.84297T>G (p.Asn28099Lys)
c.65913T>G (p.Asn21971Lys)
c.87408T>G (p.Asn29136Lys)
c.87405T>G (p.Asn29135Lys)
c.86838T>G (p.Asn28946Lys)
c.84180T>G (p.Asn28060Lys)
c.84099T>G (p.Asn28033Lys)
c.65862T>G (p.Asn21954Lys)
c.55716T>G (p.Asn18572Lys)
2g.178548659A>GCA60974140TTN,TTN-AS1c.85263T>C (p.Asn28421=)
c.66348T>C (p.Asn22116=)
c.66147T>C (p.Asn22049=)
c.65772T>C (p.Asn21924=)
c.92967T>C (p.Asn30989=)
c.88044T>C (p.Asn29348=)
n.447-22641A>G
n.2043+6298A>G
c.92064T>C (p.Asn30688=)
c.65958T>C (p.Asn21986=)
c.65817T>C (p.Asn21939=)
c.91860T>C (p.Asn30620=)
c.87258T>C (p.Asn29086=)
c.87255T>C (p.Asn29085=)
c.84297T>C (p.Asn28099=)
c.65913T>C (p.Asn21971=)
c.87408T>C (p.Asn29136=)
c.87405T>C (p.Asn29135=)
c.86838T>C (p.Asn28946=)
c.84180T>C (p.Asn28060=)
c.84099T>C (p.Asn28033=)
c.65862T>C (p.Asn21954=)
c.55716T>C (p.Asn18572=)
 dbSNP
2g.178548659A>TCA349489074TTN,TTN-AS1c.85263T>A (p.Asn28421Lys)
c.66348T>A (p.Asn22116Lys)
c.66147T>A (p.Asn22049Lys)
c.65772T>A (p.Asn21924Lys)
c.92967T>A (p.Asn30989Lys)
c.88044T>A (p.Asn29348Lys)
n.447-22641A>T
n.2043+6298A>T
c.92064T>A (p.Asn30688Lys)
c.65958T>A (p.Asn21986Lys)
c.65817T>A (p.Asn21939Lys)
c.91860T>A (p.Asn30620Lys)
c.87258T>A (p.Asn29086Lys)
c.87255T>A (p.Asn29085Lys)
c.84297T>A (p.Asn28099Lys)
c.65913T>A (p.Asn21971Lys)
c.87408T>A (p.Asn29136Lys)
c.87405T>A (p.Asn29135Lys)
c.86838T>A (p.Asn28946Lys)
c.84180T>A (p.Asn28060Lys)
c.84099T>A (p.Asn28033Lys)
c.65862T>A (p.Asn21954Lys)
c.55716T>A (p.Asn18572Lys)
2g.178548660T>ACA1987375TTN,TTN-AS1c.85262A>T (p.Asn28421Ile)
c.66347A>T (p.Asn22116Ile)
c.66146A>T (p.Asn22049Ile)
c.65771A>T (p.Asn21924Ile)
c.92966A>T (p.Asn30989Ile)
c.88043A>T (p.Asn29348Ile)
n.447-22640T>A
n.2043+6299T>A
c.92063A>T (p.Asn30688Ile)
c.65957A>T (p.Asn21986Ile)
c.65816A>T (p.Asn21939Ile)
c.91859A>T (p.Asn30620Ile)
c.87257A>T (p.Asn29086Ile)
c.87254A>T (p.Asn29085Ile)
c.84296A>T (p.Asn28099Ile)
c.65912A>T (p.Asn21971Ile)
c.87407A>T (p.Asn29136Ile)
c.87404A>T (p.Asn29135Ile)
c.86837A>T (p.Asn28946Ile)
c.84179A>T (p.Asn28060Ile)
c.84098A>T (p.Asn28033Ile)
c.65861A>T (p.Asn21954Ile)
c.55715A>T (p.Asn18572Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178548660T>CCA1987376TTN,TTN-AS1c.85262A>G (p.Asn28421Ser)
c.66347A>G (p.Asn22116Ser)
c.66146A>G (p.Asn22049Ser)
c.65771A>G (p.Asn21924Ser)
c.92966A>G (p.Asn30989Ser)
c.88043A>G (p.Asn29348Ser)
n.447-22640T>C
n.2043+6299T>C
c.92063A>G (p.Asn30688Ser)
c.65957A>G (p.Asn21986Ser)
c.65816A>G (p.Asn21939Ser)
c.91859A>G (p.Asn30620Ser)
c.87257A>G (p.Asn29086Ser)
c.87254A>G (p.Asn29085Ser)
c.84296A>G (p.Asn28099Ser)
c.65912A>G (p.Asn21971Ser)
c.87407A>G (p.Asn29136Ser)
c.87404A>G (p.Asn29135Ser)
c.86837A>G (p.Asn28946Ser)
c.84179A>G (p.Asn28060Ser)
c.84098A>G (p.Asn28033Ser)
c.65861A>G (p.Asn21954Ser)
c.55715A>G (p.Asn18572Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178548660T>GCA349489086TTN,TTN-AS1c.85262A>C (p.Asn28421Thr)
c.66347A>C (p.Asn22116Thr)
c.66146A>C (p.Asn22049Thr)
c.65771A>C (p.Asn21924Thr)
c.92966A>C (p.Asn30989Thr)
c.88043A>C (p.Asn29348Thr)
n.447-22640T>G
n.2043+6299T>G
c.92063A>C (p.Asn30688Thr)
c.65957A>C (p.Asn21986Thr)
c.65816A>C (p.Asn21939Thr)
c.91859A>C (p.Asn30620Thr)
c.87257A>C (p.Asn29086Thr)
c.87254A>C (p.Asn29085Thr)
c.84296A>C (p.Asn28099Thr)
c.65912A>C (p.Asn21971Thr)
c.87407A>C (p.Asn29136Thr)
c.87404A>C (p.Asn29135Thr)
c.86837A>C (p.Asn28946Thr)
c.84179A>C (p.Asn28060Thr)
c.84098A>C (p.Asn28033Thr)
c.65861A>C (p.Asn21954Thr)
c.55715A>C (p.Asn18572Thr)
2g.178548660T=CA1310524588TTN,TTN-AS1c.85262A= (p.Asn28421=)
c.66347A= (p.Asn22116=)
c.66146A= (p.Asn22049=)
c.65771A= (p.Asn21924=)
c.92966A= (p.Asn30989=)
c.88043A= (p.Asn29348=)
n.447-22640T=
n.2043+6299T=
c.92063A= (p.Asn30688=)
c.65957A= (p.Asn21986=)
c.65816A= (p.Asn21939=)
c.91859A= (p.Asn30620=)
c.87257A= (p.Asn29086=)
c.87254A= (p.Asn29085=)
c.84296A= (p.Asn28099=)
c.65912A= (p.Asn21971=)
c.87407A= (p.Asn29136=)
c.87404A= (p.Asn29135=)
c.86837A= (p.Asn28946=)
c.84179A= (p.Asn28060=)
c.84098A= (p.Asn28033=)
c.65861A= (p.Asn21954=)
c.55715A= (p.Asn18572=)
2g.178548661T>ACA349489090TTN,TTN-AS1c.85261A>T (p.Asn28421Tyr)
c.66346A>T (p.Asn22116Tyr)
c.66145A>T (p.Asn22049Tyr)
c.65770A>T (p.Asn21924Tyr)
c.92965A>T (p.Asn30989Tyr)
c.88042A>T (p.Asn29348Tyr)
n.447-22639T>A
n.2043+6300T>A
c.92062A>T (p.Asn30688Tyr)
c.65956A>T (p.Asn21986Tyr)
c.65815A>T (p.Asn21939Tyr)
c.91858A>T (p.Asn30620Tyr)
c.87256A>T (p.Asn29086Tyr)
c.87253A>T (p.Asn29085Tyr)
c.84295A>T (p.Asn28099Tyr)
c.65911A>T (p.Asn21971Tyr)
c.87406A>T (p.Asn29136Tyr)
c.87403A>T (p.Asn29135Tyr)
c.86836A>T (p.Asn28946Tyr)
c.84178A>T (p.Asn28060Tyr)
c.84097A>T (p.Asn28033Tyr)
c.65860A>T (p.Asn21954Tyr)
c.55714A>T (p.Asn18572Tyr)
2g.178548661T>CCA349489092TTN,TTN-AS1c.85261A>G (p.Asn28421Asp)
c.66346A>G (p.Asn22116Asp)
c.66145A>G (p.Asn22049Asp)
c.65770A>G (p.Asn21924Asp)
c.92965A>G (p.Asn30989Asp)
c.88042A>G (p.Asn29348Asp)
n.447-22639T>C
n.2043+6300T>C
c.92062A>G (p.Asn30688Asp)
c.65956A>G (p.Asn21986Asp)
c.65815A>G (p.Asn21939Asp)
c.91858A>G (p.Asn30620Asp)
c.87256A>G (p.Asn29086Asp)
c.87253A>G (p.Asn29085Asp)
c.84295A>G (p.Asn28099Asp)
c.65911A>G (p.Asn21971Asp)
c.87406A>G (p.Asn29136Asp)
c.87403A>G (p.Asn29135Asp)
c.86836A>G (p.Asn28946Asp)
c.84178A>G (p.Asn28060Asp)
c.84097A>G (p.Asn28033Asp)
c.65860A>G (p.Asn21954Asp)
c.55714A>G (p.Asn18572Asp)
2g.178548661T>GCA349489093TTN,TTN-AS1c.85261A>C (p.Asn28421His)
c.66346A>C (p.Asn22116His)
c.66145A>C (p.Asn22049His)
c.65770A>C (p.Asn21924His)
c.92965A>C (p.Asn30989His)
c.88042A>C (p.Asn29348His)
n.447-22639T>G
n.2043+6300T>G
c.92062A>C (p.Asn30688His)
c.65956A>C (p.Asn21986His)
c.65815A>C (p.Asn21939His)
c.91858A>C (p.Asn30620His)
c.87256A>C (p.Asn29086His)
c.87253A>C (p.Asn29085His)
c.84295A>C (p.Asn28099His)
c.65911A>C (p.Asn21971His)
c.87406A>C (p.Asn29136His)
c.87403A>C (p.Asn29135His)
c.86836A>C (p.Asn28946His)
c.84178A>C (p.Asn28060His)
c.84097A>C (p.Asn28033His)
c.65860A>C (p.Asn21954His)
c.55714A>C (p.Asn18572His)
2g.178548662T>ACA349489094TTN,TTN-AS1c.85260A>T (p.Arg28420Ser)
c.66345A>T (p.Arg22115Ser)
c.66144A>T (p.Arg22048Ser)
c.65769A>T (p.Arg21923Ser)
c.92964A>T (p.Arg30988Ser)
c.88041A>T (p.Arg29347Ser)
n.447-22638T>A
n.2043+6301T>A
c.92061A>T (p.Arg30687Ser)
c.65955A>T (p.Arg21985Ser)
c.65814A>T (p.Arg21938Ser)
c.91857A>T (p.Arg30619Ser)
c.87255A>T (p.Arg29085Ser)
c.87252A>T (p.Arg29084Ser)
c.84294A>T (p.Arg28098Ser)
c.65910A>T (p.Arg21970Ser)
c.87405A>T (p.Arg29135Ser)
c.87402A>T (p.Arg29134Ser)
c.86835A>T (p.Arg28945Ser)
c.84177A>T (p.Arg28059Ser)
c.84096A>T (p.Arg28032Ser)
c.65859A>T (p.Arg21953Ser)
c.55713A>T (p.Arg18571Ser)
2g.178548662T>CCA430243373TTN,TTN-AS1c.85260A>G (p.Arg28420=)
c.66345A>G (p.Arg22115=)
c.66144A>G (p.Arg22048=)
c.65769A>G (p.Arg21923=)
c.92964A>G (p.Arg30988=)
c.88041A>G (p.Arg29347=)
n.447-22638T>C
n.2043+6301T>C
c.92061A>G (p.Arg30687=)
c.65955A>G (p.Arg21985=)
c.65814A>G (p.Arg21938=)
c.91857A>G (p.Arg30619=)
c.87255A>G (p.Arg29085=)
c.87252A>G (p.Arg29084=)
c.84294A>G (p.Arg28098=)
c.65910A>G (p.Arg21970=)
c.87405A>G (p.Arg29135=)
c.87402A>G (p.Arg29134=)
c.86835A>G (p.Arg28945=)
c.84177A>G (p.Arg28059=)
c.84096A>G (p.Arg28032=)
c.65859A>G (p.Arg21953=)
c.55713A>G (p.Arg18571=)
2g.178548662T>GCA349489096TTN,TTN-AS1c.85260A>C (p.Arg28420Ser)
c.66345A>C (p.Arg22115Ser)
c.66144A>C (p.Arg22048Ser)
c.65769A>C (p.Arg21923Ser)
c.92964A>C (p.Arg30988Ser)
c.88041A>C (p.Arg29347Ser)
n.447-22638T>G
n.2043+6301T>G
c.92061A>C (p.Arg30687Ser)
c.65955A>C (p.Arg21985Ser)
c.65814A>C (p.Arg21938Ser)
c.91857A>C (p.Arg30619Ser)
c.87255A>C (p.Arg29085Ser)
c.87252A>C (p.Arg29084Ser)
c.84294A>C (p.Arg28098Ser)
c.65910A>C (p.Arg21970Ser)
c.87405A>C (p.Arg29135Ser)
c.87402A>C (p.Arg29134Ser)
c.86835A>C (p.Arg28945Ser)
c.84177A>C (p.Arg28059Ser)
c.84096A>C (p.Arg28032Ser)
c.65859A>C (p.Arg21953Ser)
c.55713A>C (p.Arg18571Ser)
2g.178548663C>ACA349489102TTN,TTN-AS1c.85259G>T (p.Arg28420Ile)
c.66344G>T (p.Arg22115Ile)
c.66143G>T (p.Arg22048Ile)
c.65768G>T (p.Arg21923Ile)
c.92963G>T (p.Arg30988Ile)
c.88040G>T (p.Arg29347Ile)
n.447-22637C>A
n.2043+6302C>A
c.92060G>T (p.Arg30687Ile)
c.65954G>T (p.Arg21985Ile)
c.65813G>T (p.Arg21938Ile)
c.91856G>T (p.Arg30619Ile)
c.87254G>T (p.Arg29085Ile)
c.87251G>T (p.Arg29084Ile)
c.84293G>T (p.Arg28098Ile)
c.65909G>T (p.Arg21970Ile)
c.87404G>T (p.Arg29135Ile)
c.87401G>T (p.Arg29134Ile)
c.86834G>T (p.Arg28945Ile)
c.84176G>T (p.Arg28059Ile)
c.84095G>T (p.Arg28032Ile)
c.65858G>T (p.Arg21953Ile)
c.55712G>T (p.Arg18571Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178548663C>GCA349489105TTN,TTN-AS1c.85259G>C (p.Arg28420Thr)
c.66344G>C (p.Arg22115Thr)
c.66143G>C (p.Arg22048Thr)
c.65768G>C (p.Arg21923Thr)
c.92963G>C (p.Arg30988Thr)
c.88040G>C (p.Arg29347Thr)
n.447-22637C>G
n.2043+6302C>G
c.92060G>C (p.Arg30687Thr)
c.65954G>C (p.Arg21985Thr)
c.65813G>C (p.Arg21938Thr)
c.91856G>C (p.Arg30619Thr)
c.87254G>C (p.Arg29085Thr)
c.87251G>C (p.Arg29084Thr)
c.84293G>C (p.Arg28098Thr)
c.65909G>C (p.Arg21970Thr)
c.87404G>C (p.Arg29135Thr)
c.87401G>C (p.Arg29134Thr)
c.86834G>C (p.Arg28945Thr)
c.84176G>C (p.Arg28059Thr)
c.84095G>C (p.Arg28032Thr)
c.65858G>C (p.Arg21953Thr)
c.55712G>C (p.Arg18571Thr)
2g.178548663C>TCA349489108TTN,TTN-AS1c.85259G>A (p.Arg28420Lys)
c.66344G>A (p.Arg22115Lys)
c.66143G>A (p.Arg22048Lys)
c.65768G>A (p.Arg21923Lys)
c.92963G>A (p.Arg30988Lys)
c.88040G>A (p.Arg29347Lys)
n.447-22637C>T
n.2043+6302C>T
c.92060G>A (p.Arg30687Lys)
c.65954G>A (p.Arg21985Lys)
c.65813G>A (p.Arg21938Lys)
c.91856G>A (p.Arg30619Lys)
c.87254G>A (p.Arg29085Lys)
c.87251G>A (p.Arg29084Lys)
c.84293G>A (p.Arg28098Lys)
c.65909G>A (p.Arg21970Lys)
c.87404G>A (p.Arg29135Lys)
c.87401G>A (p.Arg29134Lys)
c.86834G>A (p.Arg28945Lys)
c.84176G>A (p.Arg28059Lys)
c.84095G>A (p.Arg28032Lys)
c.65858G>A (p.Arg21953Lys)
c.55712G>A (p.Arg18571Lys)
 gnomAD v4
2g.178548664T>ACA349489114TTN,TTN-AS1c.85258A>T (p.Arg28420Ter)
c.66343A>T (p.Arg22115Ter)
c.66142A>T (p.Arg22048Ter)
c.65767A>T (p.Arg21923Ter)
c.92962A>T (p.Arg30988Ter)
c.88039A>T (p.Arg29347Ter)
n.447-22636T>A
n.2043+6303T>A
c.92059A>T (p.Arg30687Ter)
c.65953A>T (p.Arg21985Ter)
c.65812A>T (p.Arg21938Ter)
c.91855A>T (p.Arg30619Ter)
c.87253A>T (p.Arg29085Ter)
c.87250A>T (p.Arg29084Ter)
c.84292A>T (p.Arg28098Ter)
c.65908A>T (p.Arg21970Ter)
c.87403A>T (p.Arg29135Ter)
c.87400A>T (p.Arg29134Ter)
c.86833A>T (p.Arg28945Ter)
c.84175A>T (p.Arg28059Ter)
c.84094A>T (p.Arg28032Ter)
c.65857A>T (p.Arg21953Ter)
c.55711A>T (p.Arg18571Ter)
 ClinVar dbSNP
2g.178548664T>CCA349489117TTN,TTN-AS1c.85258A>G (p.Arg28420Gly)
c.66343A>G (p.Arg22115Gly)
c.66142A>G (p.Arg22048Gly)
c.65767A>G (p.Arg21923Gly)
c.92962A>G (p.Arg30988Gly)
c.88039A>G (p.Arg29347Gly)
n.447-22636T>C
n.2043+6303T>C
c.92059A>G (p.Arg30687Gly)
c.65953A>G (p.Arg21985Gly)
c.65812A>G (p.Arg21938Gly)
c.91855A>G (p.Arg30619Gly)
c.87253A>G (p.Arg29085Gly)
c.87250A>G (p.Arg29084Gly)
c.84292A>G (p.Arg28098Gly)
c.65908A>G (p.Arg21970Gly)
c.87403A>G (p.Arg29135Gly)
c.87400A>G (p.Arg29134Gly)
c.86833A>G (p.Arg28945Gly)
c.84175A>G (p.Arg28059Gly)
c.84094A>G (p.Arg28032Gly)
c.65857A>G (p.Arg21953Gly)
c.55711A>G (p.Arg18571Gly)
2g.178548664T>GCA430243375TTN,TTN-AS1c.85258A>C (p.Arg28420=)
c.66343A>C (p.Arg22115=)
c.66142A>C (p.Arg22048=)
c.65767A>C (p.Arg21923=)
c.92962A>C (p.Arg30988=)
c.88039A>C (p.Arg29347=)
n.447-22636T>G
n.2043+6303T>G
c.92059A>C (p.Arg30687=)
c.65953A>C (p.Arg21985=)
c.65812A>C (p.Arg21938=)
c.91855A>C (p.Arg30619=)
c.87253A>C (p.Arg29085=)
c.87250A>C (p.Arg29084=)
c.84292A>C (p.Arg28098=)
c.65908A>C (p.Arg21970=)
c.87403A>C (p.Arg29135=)
c.87400A>C (p.Arg29134=)
c.86833A>C (p.Arg28945=)
c.84175A>C (p.Arg28059=)
c.84094A>C (p.Arg28032=)
c.65857A>C (p.Arg21953=)
c.55711A>C (p.Arg18571=)
2g.178548664T=CA1310524589TTN,TTN-AS1c.85258A= (p.Arg28420=)
c.66343A= (p.Arg22115=)
c.66142A= (p.Arg22048=)
c.65767A= (p.Arg21923=)
c.92962A= (p.Arg30988=)
c.88039A= (p.Arg29347=)
n.447-22636T=
n.2043+6303T=
c.92059A= (p.Arg30687=)
c.65953A= (p.Arg21985=)
c.65812A= (p.Arg21938=)
c.91855A= (p.Arg30619=)
c.87253A= (p.Arg29085=)
c.87250A= (p.Arg29084=)
c.84292A= (p.Arg28098=)
c.65908A= (p.Arg21970=)
c.87403A= (p.Arg29135=)
c.87400A= (p.Arg29134=)
c.86833A= (p.Arg28945=)
c.84175A= (p.Arg28059=)
c.84094A= (p.Arg28032=)
c.65857A= (p.Arg21953=)
c.55711A= (p.Arg18571=)
2g.178548665G>ACA430243376TTN,TTN-AS1c.85257C>T (p.Asn28419=)
c.66342C>T (p.Asn22114=)
c.66141C>T (p.Asn22047=)
c.65766C>T (p.Asn21922=)
c.92961C>T (p.Asn30987=)
c.88038C>T (p.Asn29346=)
n.447-22635G>A
n.2043+6304G>A
c.92058C>T (p.Asn30686=)
c.65952C>T (p.Asn21984=)
c.65811C>T (p.Asn21937=)
c.91854C>T (p.Asn30618=)
c.87252C>T (p.Asn29084=)
c.87249C>T (p.Asn29083=)
c.84291C>T (p.Asn28097=)
c.65907C>T (p.Asn21969=)
c.87402C>T (p.Asn29134=)
c.87399C>T (p.Asn29133=)
c.86832C>T (p.Asn28944=)
c.84174C>T (p.Asn28058=)
c.84093C>T (p.Asn28031=)
c.65856C>T (p.Asn21952=)
c.55710C>T (p.Asn18570=)
2g.178548665G>CCA349489122TTN,TTN-AS1c.85257C>G (p.Asn28419Lys)
c.66342C>G (p.Asn22114Lys)
c.66141C>G (p.Asn22047Lys)
c.65766C>G (p.Asn21922Lys)
c.92961C>G (p.Asn30987Lys)
c.88038C>G (p.Asn29346Lys)
n.447-22635G>C
n.2043+6304G>C
c.92058C>G (p.Asn30686Lys)
c.65952C>G (p.Asn21984Lys)
c.65811C>G (p.Asn21937Lys)
c.91854C>G (p.Asn30618Lys)
c.87252C>G (p.Asn29084Lys)
c.87249C>G (p.Asn29083Lys)
c.84291C>G (p.Asn28097Lys)
c.65907C>G (p.Asn21969Lys)
c.87402C>G (p.Asn29134Lys)
c.87399C>G (p.Asn29133Lys)
c.86832C>G (p.Asn28944Lys)
c.84174C>G (p.Asn28058Lys)
c.84093C>G (p.Asn28031Lys)
c.65856C>G (p.Asn21952Lys)
c.55710C>G (p.Asn18570Lys)
2g.178548665G>TCA349489118TTN,TTN-AS1c.85257C>A (p.Asn28419Lys)
c.66342C>A (p.Asn22114Lys)
c.66141C>A (p.Asn22047Lys)
c.65766C>A (p.Asn21922Lys)
c.92961C>A (p.Asn30987Lys)
c.88038C>A (p.Asn29346Lys)
n.447-22635G>T
n.2043+6304G>T
c.92058C>A (p.Asn30686Lys)
c.65952C>A (p.Asn21984Lys)
c.65811C>A (p.Asn21937Lys)
c.91854C>A (p.Asn30618Lys)
c.87252C>A (p.Asn29084Lys)
c.87249C>A (p.Asn29083Lys)
c.84291C>A (p.Asn28097Lys)
c.65907C>A (p.Asn21969Lys)
c.87402C>A (p.Asn29134Lys)
c.87399C>A (p.Asn29133Lys)
c.86832C>A (p.Asn28944Lys)
c.84174C>A (p.Asn28058Lys)
c.84093C>A (p.Asn28031Lys)
c.65856C>A (p.Asn21952Lys)
c.55710C>A (p.Asn18570Lys)
2g.178548666T>ACA349489134TTN,TTN-AS1c.85256A>T (p.Asn28419Ile)
c.66341A>T (p.Asn22114Ile)
c.66140A>T (p.Asn22047Ile)
c.65765A>T (p.Asn21922Ile)
c.92960A>T (p.Asn30987Ile)
c.88037A>T (p.Asn29346Ile)
n.447-22634T>A
n.2043+6305T>A
c.92057A>T (p.Asn30686Ile)
c.65951A>T (p.Asn21984Ile)
c.65810A>T (p.Asn21937Ile)
c.91853A>T (p.Asn30618Ile)
c.87251A>T (p.Asn29084Ile)
c.87248A>T (p.Asn29083Ile)
c.84290A>T (p.Asn28097Ile)
c.65906A>T (p.Asn21969Ile)
c.87401A>T (p.Asn29134Ile)
c.87398A>T (p.Asn29133Ile)
c.86831A>T (p.Asn28944Ile)
c.84173A>T (p.Asn28058Ile)
c.84092A>T (p.Asn28031Ile)
c.65855A>T (p.Asn21952Ile)
c.55709A>T (p.Asn18570Ile)
2g.178548666T>CCA349489138TTN,TTN-AS1c.85256A>G (p.Asn28419Ser)
c.66341A>G (p.Asn22114Ser)
c.66140A>G (p.Asn22047Ser)
c.65765A>G (p.Asn21922Ser)
c.92960A>G (p.Asn30987Ser)
c.88037A>G (p.Asn29346Ser)
n.447-22634T>C
n.2043+6305T>C
c.92057A>G (p.Asn30686Ser)
c.65951A>G (p.Asn21984Ser)
c.65810A>G (p.Asn21937Ser)
c.91853A>G (p.Asn30618Ser)
c.87251A>G (p.Asn29084Ser)
c.87248A>G (p.Asn29083Ser)
c.84290A>G (p.Asn28097Ser)
c.65906A>G (p.Asn21969Ser)
c.87401A>G (p.Asn29134Ser)
c.87398A>G (p.Asn29133Ser)
c.86831A>G (p.Asn28944Ser)
c.84173A>G (p.Asn28058Ser)
c.84092A>G (p.Asn28031Ser)
c.65855A>G (p.Asn21952Ser)
c.55709A>G (p.Asn18570Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178548666T>GCA349489144TTN,TTN-AS1c.85256A>C (p.Asn28419Thr)
c.66341A>C (p.Asn22114Thr)
c.66140A>C (p.Asn22047Thr)
c.65765A>C (p.Asn21922Thr)
c.92960A>C (p.Asn30987Thr)
c.88037A>C (p.Asn29346Thr)
n.447-22634T>G
n.2043+6305T>G
c.92057A>C (p.Asn30686Thr)
c.65951A>C (p.Asn21984Thr)
c.65810A>C (p.Asn21937Thr)
c.91853A>C (p.Asn30618Thr)
c.87251A>C (p.Asn29084Thr)
c.87248A>C (p.Asn29083Thr)
c.84290A>C (p.Asn28097Thr)
c.65906A>C (p.Asn21969Thr)
c.87401A>C (p.Asn29134Thr)
c.87398A>C (p.Asn29133Thr)
c.86831A>C (p.Asn28944Thr)
c.84173A>C (p.Asn28058Thr)
c.84092A>C (p.Asn28031Thr)
c.65855A>C (p.Asn21952Thr)
c.55709A>C (p.Asn18570Thr)
2g.178548667T>ACA349489147TTN,TTN-AS1c.85255A>T (p.Asn28419Tyr)
c.66340A>T (p.Asn22114Tyr)
c.66139A>T (p.Asn22047Tyr)
c.65764A>T (p.Asn21922Tyr)
c.92959A>T (p.Asn30987Tyr)
c.88036A>T (p.Asn29346Tyr)
n.447-22633T>A
n.2043+6306T>A
c.92056A>T (p.Asn30686Tyr)
c.65950A>T (p.Asn21984Tyr)
c.65809A>T (p.Asn21937Tyr)
c.91852A>T (p.Asn30618Tyr)
c.87250A>T (p.Asn29084Tyr)
c.87247A>T (p.Asn29083Tyr)
c.84289A>T (p.Asn28097Tyr)
c.65905A>T (p.Asn21969Tyr)
c.87400A>T (p.Asn29134Tyr)
c.87397A>T (p.Asn29133Tyr)
c.86830A>T (p.Asn28944Tyr)
c.84172A>T (p.Asn28058Tyr)
c.84091A>T (p.Asn28031Tyr)
c.65854A>T (p.Asn21952Tyr)
c.55708A>T (p.Asn18570Tyr)
 gnomAD v4
2g.178548667T>CCA349489149TTN,TTN-AS1c.85255A>G (p.Asn28419Asp)
c.66340A>G (p.Asn22114Asp)
c.66139A>G (p.Asn22047Asp)
c.65764A>G (p.Asn21922Asp)
c.92959A>G (p.Asn30987Asp)
c.88036A>G (p.Asn29346Asp)
n.447-22633T>C
n.2043+6306T>C
c.92056A>G (p.Asn30686Asp)
c.65950A>G (p.Asn21984Asp)
c.65809A>G (p.Asn21937Asp)
c.91852A>G (p.Asn30618Asp)
c.87250A>G (p.Asn29084Asp)
c.87247A>G (p.Asn29083Asp)
c.84289A>G (p.Asn28097Asp)
c.65905A>G (p.Asn21969Asp)
c.87400A>G (p.Asn29134Asp)
c.87397A>G (p.Asn29133Asp)
c.86830A>G (p.Asn28944Asp)
c.84172A>G (p.Asn28058Asp)
c.84091A>G (p.Asn28031Asp)
c.65854A>G (p.Asn21952Asp)
c.55708A>G (p.Asn18570Asp)
2g.178548667T>GCA349489153TTN,TTN-AS1c.85255A>C (p.Asn28419His)
c.66340A>C (p.Asn22114His)
c.66139A>C (p.Asn22047His)
c.65764A>C (p.Asn21922His)
c.92959A>C (p.Asn30987His)
c.88036A>C (p.Asn29346His)
n.447-22633T>G
n.2043+6306T>G
c.92056A>C (p.Asn30686His)
c.65950A>C (p.Asn21984His)
c.65809A>C (p.Asn21937His)
c.91852A>C (p.Asn30618His)
c.87250A>C (p.Asn29084His)
c.87247A>C (p.Asn29083His)
c.84289A>C (p.Asn28097His)
c.65905A>C (p.Asn21969His)
c.87400A>C (p.Asn29134His)
c.87397A>C (p.Asn29133His)
c.86830A>C (p.Asn28944His)
c.84172A>C (p.Asn28058His)
c.84091A>C (p.Asn28031His)
c.65854A>C (p.Asn21952His)
c.55708A>C (p.Asn18570His)
2g.178548668G>ACA430243379TTN,TTN-AS1c.85254C>T (p.Cys28418=)
c.66339C>T (p.Cys22113=)
c.66138C>T (p.Cys22046=)
c.65763C>T (p.Cys21921=)
c.92958C>T (p.Cys30986=)
c.88035C>T (p.Cys29345=)
n.447-22632G>A
n.2043+6307G>A
c.92055C>T (p.Cys30685=)
c.65949C>T (p.Cys21983=)
c.65808C>T (p.Cys21936=)
c.91851C>T (p.Cys30617=)
c.87249C>T (p.Cys29083=)
c.87246C>T (p.Cys29082=)
c.84288C>T (p.Cys28096=)
c.65904C>T (p.Cys21968=)
c.87399C>T (p.Cys29133=)
c.87396C>T (p.Cys29132=)
c.86829C>T (p.Cys28943=)
c.84171C>T (p.Cys28057=)
c.84090C>T (p.Cys28030=)
c.65853C>T (p.Cys21951=)
c.55707C>T (p.Cys18569=)
 gnomAD v4
2g.178548668G>CCA349489156TTN,TTN-AS1c.85254C>G (p.Cys28418Trp)
c.66339C>G (p.Cys22113Trp)
c.66138C>G (p.Cys22046Trp)
c.65763C>G (p.Cys21921Trp)
c.92958C>G (p.Cys30986Trp)
c.88035C>G (p.Cys29345Trp)
n.447-22632G>C
n.2043+6307G>C
c.92055C>G (p.Cys30685Trp)
c.65949C>G (p.Cys21983Trp)
c.65808C>G (p.Cys21936Trp)
c.91851C>G (p.Cys30617Trp)
c.87249C>G (p.Cys29083Trp)
c.87246C>G (p.Cys29082Trp)
c.84288C>G (p.Cys28096Trp)
c.65904C>G (p.Cys21968Trp)
c.87399C>G (p.Cys29133Trp)
c.87396C>G (p.Cys29132Trp)
c.86829C>G (p.Cys28943Trp)
c.84171C>G (p.Cys28057Trp)
c.84090C>G (p.Cys28030Trp)
c.65853C>G (p.Cys21951Trp)
c.55707C>G (p.Cys18569Trp)
2g.178548668G>TCA349489159TTN,TTN-AS1c.85254C>A (p.Cys28418Ter)
c.66339C>A (p.Cys22113Ter)
c.66138C>A (p.Cys22046Ter)
c.65763C>A (p.Cys21921Ter)
c.92958C>A (p.Cys30986Ter)
c.88035C>A (p.Cys29345Ter)
n.447-22632G>T
n.2043+6307G>T
c.92055C>A (p.Cys30685Ter)
c.65949C>A (p.Cys21983Ter)
c.65808C>A (p.Cys21936Ter)
c.91851C>A (p.Cys30617Ter)
c.87249C>A (p.Cys29083Ter)
c.87246C>A (p.Cys29082Ter)
c.84288C>A (p.Cys28096Ter)
c.65904C>A (p.Cys21968Ter)
c.87399C>A (p.Cys29133Ter)
c.87396C>A (p.Cys29132Ter)
c.86829C>A (p.Cys28943Ter)
c.84171C>A (p.Cys28057Ter)
c.84090C>A (p.Cys28030Ter)
c.65853C>A (p.Cys21951Ter)
c.55707C>A (p.Cys18569Ter)
2g.178548669C>ACA349489168TTN,TTN-AS1c.85253G>T (p.Cys28418Phe)
c.66338G>T (p.Cys22113Phe)
c.66137G>T (p.Cys22046Phe)
c.65762G>T (p.Cys21921Phe)
c.92957G>T (p.Cys30986Phe)
c.88034G>T (p.Cys29345Phe)
n.447-22631C>A
n.2043+6308C>A
c.92054G>T (p.Cys30685Phe)
c.65948G>T (p.Cys21983Phe)
c.65807G>T (p.Cys21936Phe)
c.91850G>T (p.Cys30617Phe)
c.87248G>T (p.Cys29083Phe)
c.87245G>T (p.Cys29082Phe)
c.84287G>T (p.Cys28096Phe)
c.65903G>T (p.Cys21968Phe)
c.87398G>T (p.Cys29133Phe)
c.87395G>T (p.Cys29132Phe)
c.86828G>T (p.Cys28943Phe)
c.84170G>T (p.Cys28057Phe)
c.84089G>T (p.Cys28030Phe)
c.65852G>T (p.Cys21951Phe)
c.55706G>T (p.Cys18569Phe)
2g.178548669C>GCA349489169TTN,TTN-AS1c.85253G>C (p.Cys28418Ser)
c.66338G>C (p.Cys22113Ser)
c.66137G>C (p.Cys22046Ser)
c.65762G>C (p.Cys21921Ser)
c.92957G>C (p.Cys30986Ser)
c.88034G>C (p.Cys29345Ser)
n.447-22631C>G
n.2043+6308C>G
c.92054G>C (p.Cys30685Ser)
c.65948G>C (p.Cys21983Ser)
c.65807G>C (p.Cys21936Ser)
c.91850G>C (p.Cys30617Ser)
c.87248G>C (p.Cys29083Ser)
c.87245G>C (p.Cys29082Ser)
c.84287G>C (p.Cys28096Ser)
c.65903G>C (p.Cys21968Ser)
c.87398G>C (p.Cys29133Ser)
c.87395G>C (p.Cys29132Ser)
c.86828G>C (p.Cys28943Ser)
c.84170G>C (p.Cys28057Ser)
c.84089G>C (p.Cys28030Ser)
c.65852G>C (p.Cys21951Ser)
c.55706G>C (p.Cys18569Ser)

Number of alleles fetched