Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178551932C>ACA349505108TTN,TTN-AS1c.83264G>T (p.Arg27755Met)
c.64349G>T (p.Arg21450Met)
c.64148G>T (p.Arg21383Met)
c.63773G>T (p.Arg21258Met)
c.90968G>T (p.Arg30323Met)
c.86045G>T (p.Arg28682Met)
n.447-19368C>A
n.2043+9571C>A
c.90065G>T (p.Arg30022Met)
c.63959G>T (p.Arg21320Met)
c.63818G>T (p.Arg21273Met)
c.89861G>T (p.Arg29954Met)
c.85259G>T (p.Arg28420Met)
c.85256G>T (p.Arg28419Met)
c.82298G>T (p.Arg27433Met)
c.63914G>T (p.Arg21305Met)
c.85409G>T (p.Arg28470Met)
c.85406G>T (p.Arg28469Met)
c.84839G>T (p.Arg28280Met)
c.82181G>T (p.Arg27394Met)
c.82100G>T (p.Arg27367Met)
c.63863G>T (p.Arg21288Met)
c.53717G>T (p.Arg17906Met)
2g.178551932C=CA1310521342TTN,TTN-AS1c.83264G= (p.Arg27755=)
c.64349G= (p.Arg21450=)
c.64148G= (p.Arg21383=)
c.63773G= (p.Arg21258=)
c.90968G= (p.Arg30323=)
c.86045G= (p.Arg28682=)
n.447-19368C=
n.2043+9571C=
c.90065G= (p.Arg30022=)
c.63959G= (p.Arg21320=)
c.63818G= (p.Arg21273=)
c.89861G= (p.Arg29954=)
c.85259G= (p.Arg28420=)
c.85256G= (p.Arg28419=)
c.82298G= (p.Arg27433=)
c.63914G= (p.Arg21305=)
c.85409G= (p.Arg28470=)
c.85406G= (p.Arg28469=)
c.84839G= (p.Arg28280=)
c.82181G= (p.Arg27394=)
c.82100G= (p.Arg27367=)
c.63863G= (p.Arg21288=)
c.53717G= (p.Arg17906=)
2g.178551932C>GCA310852TTN,TTN-AS1c.83264G>C (p.Arg27755Thr)
c.64349G>C (p.Arg21450Thr)
c.64148G>C (p.Arg21383Thr)
c.63773G>C (p.Arg21258Thr)
c.90968G>C (p.Arg30323Thr)
c.86045G>C (p.Arg28682Thr)
n.447-19368C>G
n.2043+9571C>G
c.90065G>C (p.Arg30022Thr)
c.63959G>C (p.Arg21320Thr)
c.63818G>C (p.Arg21273Thr)
c.89861G>C (p.Arg29954Thr)
c.85259G>C (p.Arg28420Thr)
c.85256G>C (p.Arg28419Thr)
c.82298G>C (p.Arg27433Thr)
c.63914G>C (p.Arg21305Thr)
c.85409G>C (p.Arg28470Thr)
c.85406G>C (p.Arg28469Thr)
c.84839G>C (p.Arg28280Thr)
c.82181G>C (p.Arg27394Thr)
c.82100G>C (p.Arg27367Thr)
c.63863G>C (p.Arg21288Thr)
c.53717G>C (p.Arg17906Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178551932C>TCA284015TTN,TTN-AS1c.83264G>A (p.Arg27755Lys)
c.64349G>A (p.Arg21450Lys)
c.64148G>A (p.Arg21383Lys)
c.63773G>A (p.Arg21258Lys)
c.90968G>A (p.Arg30323Lys)
c.86045G>A (p.Arg28682Lys)
n.447-19368C>T
n.2043+9571C>T
c.90065G>A (p.Arg30022Lys)
c.63959G>A (p.Arg21320Lys)
c.63818G>A (p.Arg21273Lys)
c.89861G>A (p.Arg29954Lys)
c.85259G>A (p.Arg28420Lys)
c.85256G>A (p.Arg28419Lys)
c.82298G>A (p.Arg27433Lys)
c.63914G>A (p.Arg21305Lys)
c.85409G>A (p.Arg28470Lys)
c.85406G>A (p.Arg28469Lys)
c.84839G>A (p.Arg28280Lys)
c.82181G>A (p.Arg27394Lys)
c.82100G>A (p.Arg27367Lys)
c.63863G>A (p.Arg21288Lys)
c.53717G>A (p.Arg17906Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178551933T>ACA349505137TTN,TTN-AS1c.83263A>T (p.Arg27755Trp)
c.64348A>T (p.Arg21450Trp)
c.64147A>T (p.Arg21383Trp)
c.63772A>T (p.Arg21258Trp)
c.90967A>T (p.Arg30323Trp)
c.86044A>T (p.Arg28682Trp)
n.447-19367T>A
n.2043+9572T>A
c.90064A>T (p.Arg30022Trp)
c.63958A>T (p.Arg21320Trp)
c.63817A>T (p.Arg21273Trp)
c.89860A>T (p.Arg29954Trp)
c.85258A>T (p.Arg28420Trp)
c.85255A>T (p.Arg28419Trp)
c.82297A>T (p.Arg27433Trp)
c.63913A>T (p.Arg21305Trp)
c.85408A>T (p.Arg28470Trp)
c.85405A>T (p.Arg28469Trp)
c.84838A>T (p.Arg28280Trp)
c.82180A>T (p.Arg27394Trp)
c.82099A>T (p.Arg27367Trp)
c.63862A>T (p.Arg21288Trp)
c.53716A>T (p.Arg17906Trp)
2g.178551933T>CCA60977316TTN,TTN-AS1c.83263A>G (p.Arg27755Gly)
c.64348A>G (p.Arg21450Gly)
c.64147A>G (p.Arg21383Gly)
c.63772A>G (p.Arg21258Gly)
c.90967A>G (p.Arg30323Gly)
c.86044A>G (p.Arg28682Gly)
n.447-19367T>C
n.2043+9572T>C
c.90064A>G (p.Arg30022Gly)
c.63958A>G (p.Arg21320Gly)
c.63817A>G (p.Arg21273Gly)
c.89860A>G (p.Arg29954Gly)
c.85258A>G (p.Arg28420Gly)
c.85255A>G (p.Arg28419Gly)
c.82297A>G (p.Arg27433Gly)
c.63913A>G (p.Arg21305Gly)
c.85408A>G (p.Arg28470Gly)
c.85405A>G (p.Arg28469Gly)
c.84838A>G (p.Arg28280Gly)
c.82180A>G (p.Arg27394Gly)
c.82099A>G (p.Arg27367Gly)
c.63862A>G (p.Arg21288Gly)
c.53716A>G (p.Arg17906Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178551933T>GCA430245523TTN,TTN-AS1c.83263A>C (p.Arg27755=)
c.64348A>C (p.Arg21450=)
c.64147A>C (p.Arg21383=)
c.63772A>C (p.Arg21258=)
c.90967A>C (p.Arg30323=)
c.86044A>C (p.Arg28682=)
n.447-19367T>G
n.2043+9572T>G
c.90064A>C (p.Arg30022=)
c.63958A>C (p.Arg21320=)
c.63817A>C (p.Arg21273=)
c.89860A>C (p.Arg29954=)
c.85258A>C (p.Arg28420=)
c.85255A>C (p.Arg28419=)
c.82297A>C (p.Arg27433=)
c.63913A>C (p.Arg21305=)
c.85408A>C (p.Arg28470=)
c.85405A>C (p.Arg28469=)
c.84838A>C (p.Arg28280=)
c.82180A>C (p.Arg27394=)
c.82099A>C (p.Arg27367=)
c.63862A>C (p.Arg21288=)
c.53716A>C (p.Arg17906=)
 dbSNP
2g.178551933T=CA1310521345TTN,TTN-AS1c.83263A= (p.Arg27755=)
c.64348A= (p.Arg21450=)
c.64147A= (p.Arg21383=)
c.63772A= (p.Arg21258=)
c.90967A= (p.Arg30323=)
c.86044A= (p.Arg28682=)
n.447-19367T=
n.2043+9572T=
c.90064A= (p.Arg30022=)
c.63958A= (p.Arg21320=)
c.63817A= (p.Arg21273=)
c.89860A= (p.Arg29954=)
c.85258A= (p.Arg28420=)
c.85255A= (p.Arg28419=)
c.82297A= (p.Arg27433=)
c.63913A= (p.Arg21305=)
c.85408A= (p.Arg28470=)
c.85405A= (p.Arg28469=)
c.84838A= (p.Arg28280=)
c.82180A= (p.Arg27394=)
c.82099A= (p.Arg27367=)
c.63862A= (p.Arg21288=)
c.53716A= (p.Arg17906=)
2g.178551934G>ACA430245524TTN,TTN-AS1c.83262C>T (p.Phe27754=)
c.64347C>T (p.Phe21449=)
c.64146C>T (p.Phe21382=)
c.63771C>T (p.Phe21257=)
c.90966C>T (p.Phe30322=)
c.86043C>T (p.Phe28681=)
n.447-19366G>A
n.2043+9573G>A
c.90063C>T (p.Phe30021=)
c.63957C>T (p.Phe21319=)
c.63816C>T (p.Phe21272=)
c.89859C>T (p.Phe29953=)
c.85257C>T (p.Phe28419=)
c.85254C>T (p.Phe28418=)
c.82296C>T (p.Phe27432=)
c.63912C>T (p.Phe21304=)
c.85407C>T (p.Phe28469=)
c.85404C>T (p.Phe28468=)
c.84837C>T (p.Phe28279=)
c.82179C>T (p.Phe27393=)
c.82098C>T (p.Phe27366=)
c.63861C>T (p.Phe21287=)
c.53715C>T (p.Phe17905=)
2g.178551934G>CCA349505142TTN,TTN-AS1c.83262C>G (p.Phe27754Leu)
c.64347C>G (p.Phe21449Leu)
c.64146C>G (p.Phe21382Leu)
c.63771C>G (p.Phe21257Leu)
c.90966C>G (p.Phe30322Leu)
c.86043C>G (p.Phe28681Leu)
n.447-19366G>C
n.2043+9573G>C
c.90063C>G (p.Phe30021Leu)
c.63957C>G (p.Phe21319Leu)
c.63816C>G (p.Phe21272Leu)
c.89859C>G (p.Phe29953Leu)
c.85257C>G (p.Phe28419Leu)
c.85254C>G (p.Phe28418Leu)
c.82296C>G (p.Phe27432Leu)
c.63912C>G (p.Phe21304Leu)
c.85407C>G (p.Phe28469Leu)
c.85404C>G (p.Phe28468Leu)
c.84837C>G (p.Phe28279Leu)
c.82179C>G (p.Phe27393Leu)
c.82098C>G (p.Phe27366Leu)
c.63861C>G (p.Phe21287Leu)
c.53715C>G (p.Phe17905Leu)
2g.178551934G>TCA349505143TTN,TTN-AS1c.83262C>A (p.Phe27754Leu)
c.64347C>A (p.Phe21449Leu)
c.64146C>A (p.Phe21382Leu)
c.63771C>A (p.Phe21257Leu)
c.90966C>A (p.Phe30322Leu)
c.86043C>A (p.Phe28681Leu)
n.447-19366G>T
n.2043+9573G>T
c.90063C>A (p.Phe30021Leu)
c.63957C>A (p.Phe21319Leu)
c.63816C>A (p.Phe21272Leu)
c.89859C>A (p.Phe29953Leu)
c.85257C>A (p.Phe28419Leu)
c.85254C>A (p.Phe28418Leu)
c.82296C>A (p.Phe27432Leu)
c.63912C>A (p.Phe21304Leu)
c.85407C>A (p.Phe28469Leu)
c.85404C>A (p.Phe28468Leu)
c.84837C>A (p.Phe28279Leu)
c.82179C>A (p.Phe27393Leu)
c.82098C>A (p.Phe27366Leu)
c.63861C>A (p.Phe21287Leu)
c.53715C>A (p.Phe17905Leu)
2g.178551935A>CCA349505146TTN,TTN-AS1c.83261T>G (p.Phe27754Cys)
c.64346T>G (p.Phe21449Cys)
c.64145T>G (p.Phe21382Cys)
c.63770T>G (p.Phe21257Cys)
c.90965T>G (p.Phe30322Cys)
c.86042T>G (p.Phe28681Cys)
n.447-19365A>C
n.2043+9574A>C
c.90062T>G (p.Phe30021Cys)
c.63956T>G (p.Phe21319Cys)
c.63815T>G (p.Phe21272Cys)
c.89858T>G (p.Phe29953Cys)
c.85256T>G (p.Phe28419Cys)
c.85253T>G (p.Phe28418Cys)
c.82295T>G (p.Phe27432Cys)
c.63911T>G (p.Phe21304Cys)
c.85406T>G (p.Phe28469Cys)
c.85403T>G (p.Phe28468Cys)
c.84836T>G (p.Phe28279Cys)
c.82178T>G (p.Phe27393Cys)
c.82097T>G (p.Phe27366Cys)
c.63860T>G (p.Phe21287Cys)
c.53714T>G (p.Phe17905Cys)
2g.178551935A>GCA349505149TTN,TTN-AS1c.83261T>C (p.Phe27754Ser)
c.64346T>C (p.Phe21449Ser)
c.64145T>C (p.Phe21382Ser)
c.63770T>C (p.Phe21257Ser)
c.90965T>C (p.Phe30322Ser)
c.86042T>C (p.Phe28681Ser)
n.447-19365A>G
n.2043+9574A>G
c.90062T>C (p.Phe30021Ser)
c.63956T>C (p.Phe21319Ser)
c.63815T>C (p.Phe21272Ser)
c.89858T>C (p.Phe29953Ser)
c.85256T>C (p.Phe28419Ser)
c.85253T>C (p.Phe28418Ser)
c.82295T>C (p.Phe27432Ser)
c.63911T>C (p.Phe21304Ser)
c.85406T>C (p.Phe28469Ser)
c.85403T>C (p.Phe28468Ser)
c.84836T>C (p.Phe28279Ser)
c.82178T>C (p.Phe27393Ser)
c.82097T>C (p.Phe27366Ser)
c.63860T>C (p.Phe21287Ser)
c.53714T>C (p.Phe17905Ser)
2g.178551935A>TCA349505151TTN,TTN-AS1c.83261T>A (p.Phe27754Tyr)
c.64346T>A (p.Phe21449Tyr)
c.64145T>A (p.Phe21382Tyr)
c.63770T>A (p.Phe21257Tyr)
c.90965T>A (p.Phe30322Tyr)
c.86042T>A (p.Phe28681Tyr)
n.447-19365A>T
n.2043+9574A>T
c.90062T>A (p.Phe30021Tyr)
c.63956T>A (p.Phe21319Tyr)
c.63815T>A (p.Phe21272Tyr)
c.89858T>A (p.Phe29953Tyr)
c.85256T>A (p.Phe28419Tyr)
c.85253T>A (p.Phe28418Tyr)
c.82295T>A (p.Phe27432Tyr)
c.63911T>A (p.Phe21304Tyr)
c.85406T>A (p.Phe28469Tyr)
c.85403T>A (p.Phe28468Tyr)
c.84836T>A (p.Phe28279Tyr)
c.82178T>A (p.Phe27393Tyr)
c.82097T>A (p.Phe27366Tyr)
c.63860T>A (p.Phe21287Tyr)
c.53714T>A (p.Phe17905Tyr)
2g.178551936A=CA1310521347TTN,TTN-AS1c.83260T= (p.Phe27754=)
c.64345T= (p.Phe21449=)
c.64144T= (p.Phe21382=)
c.63769T= (p.Phe21257=)
c.90964T= (p.Phe30322=)
c.86041T= (p.Phe28681=)
n.447-19364A=
n.2043+9575A=
c.90061T= (p.Phe30021=)
c.63955T= (p.Phe21319=)
c.63814T= (p.Phe21272=)
c.89857T= (p.Phe29953=)
c.85255T= (p.Phe28419=)
c.85252T= (p.Phe28418=)
c.82294T= (p.Phe27432=)
c.63910T= (p.Phe21304=)
c.85405T= (p.Phe28469=)
c.85402T= (p.Phe28468=)
c.84835T= (p.Phe28279=)
c.82177T= (p.Phe27393=)
c.82096T= (p.Phe27366=)
c.63859T= (p.Phe21287=)
c.53713T= (p.Phe17905=)
2g.178551936A>CCA349505155TTN,TTN-AS1c.83260T>G (p.Phe27754Val)
c.64345T>G (p.Phe21449Val)
c.64144T>G (p.Phe21382Val)
c.63769T>G (p.Phe21257Val)
c.90964T>G (p.Phe30322Val)
c.86041T>G (p.Phe28681Val)
n.447-19364A>C
n.2043+9575A>C
c.90061T>G (p.Phe30021Val)
c.63955T>G (p.Phe21319Val)
c.63814T>G (p.Phe21272Val)
c.89857T>G (p.Phe29953Val)
c.85255T>G (p.Phe28419Val)
c.85252T>G (p.Phe28418Val)
c.82294T>G (p.Phe27432Val)
c.63910T>G (p.Phe21304Val)
c.85405T>G (p.Phe28469Val)
c.85402T>G (p.Phe28468Val)
c.84835T>G (p.Phe28279Val)
c.82177T>G (p.Phe27393Val)
c.82096T>G (p.Phe27366Val)
c.63859T>G (p.Phe21287Val)
c.53713T>G (p.Phe17905Val)
 dbSNP
2g.178551936A>GCA349505165TTN,TTN-AS1c.83260T>C (p.Phe27754Leu)
c.64345T>C (p.Phe21449Leu)
c.64144T>C (p.Phe21382Leu)
c.63769T>C (p.Phe21257Leu)
c.90964T>C (p.Phe30322Leu)
c.86041T>C (p.Phe28681Leu)
n.447-19364A>G
n.2043+9575A>G
c.90061T>C (p.Phe30021Leu)
c.63955T>C (p.Phe21319Leu)
c.63814T>C (p.Phe21272Leu)
c.89857T>C (p.Phe29953Leu)
c.85255T>C (p.Phe28419Leu)
c.85252T>C (p.Phe28418Leu)
c.82294T>C (p.Phe27432Leu)
c.63910T>C (p.Phe21304Leu)
c.85405T>C (p.Phe28469Leu)
c.85402T>C (p.Phe28468Leu)
c.84835T>C (p.Phe28279Leu)
c.82177T>C (p.Phe27393Leu)
c.82096T>C (p.Phe27366Leu)
c.63859T>C (p.Phe21287Leu)
c.53713T>C (p.Phe17905Leu)
2g.178551936A>TCA349505167TTN,TTN-AS1c.83260T>A (p.Phe27754Ile)
c.64345T>A (p.Phe21449Ile)
c.64144T>A (p.Phe21382Ile)
c.63769T>A (p.Phe21257Ile)
c.90964T>A (p.Phe30322Ile)
c.86041T>A (p.Phe28681Ile)
n.447-19364A>T
n.2043+9575A>T
c.90061T>A (p.Phe30021Ile)
c.63955T>A (p.Phe21319Ile)
c.63814T>A (p.Phe21272Ile)
c.89857T>A (p.Phe29953Ile)
c.85255T>A (p.Phe28419Ile)
c.85252T>A (p.Phe28418Ile)
c.82294T>A (p.Phe27432Ile)
c.63910T>A (p.Phe21304Ile)
c.85405T>A (p.Phe28469Ile)
c.85402T>A (p.Phe28468Ile)
c.84835T>A (p.Phe28279Ile)
c.82177T>A (p.Phe27393Ile)
c.82096T>A (p.Phe27366Ile)
c.63859T>A (p.Phe21287Ile)
c.53713T>A (p.Phe17905Ile)
2g.178551937C>ACA349505168TTN,TTN-AS1c.83259G>T (p.Gln27753His)
c.64344G>T (p.Gln21448His)
c.64143G>T (p.Gln21381His)
c.63768G>T (p.Gln21256His)
c.90963G>T (p.Gln30321His)
c.86040G>T (p.Gln28680His)
n.447-19363C>A
n.2043+9576C>A
c.90060G>T (p.Gln30020His)
c.63954G>T (p.Gln21318His)
c.63813G>T (p.Gln21271His)
c.89856G>T (p.Gln29952His)
c.85254G>T (p.Gln28418His)
c.85251G>T (p.Gln28417His)
c.82293G>T (p.Gln27431His)
c.63909G>T (p.Gln21303His)
c.85404G>T (p.Gln28468His)
c.85401G>T (p.Gln28467His)
c.84834G>T (p.Gln28278His)
c.82176G>T (p.Gln27392His)
c.82095G>T (p.Gln27365His)
c.63858G>T (p.Gln21286His)
c.53712G>T (p.Gln17904His)
 gnomAD v4
2g.178551937C>GCA349505170TTN,TTN-AS1c.83259G>C (p.Gln27753His)
c.64344G>C (p.Gln21448His)
c.64143G>C (p.Gln21381His)
c.63768G>C (p.Gln21256His)
c.90963G>C (p.Gln30321His)
c.86040G>C (p.Gln28680His)
n.447-19363C>G
n.2043+9576C>G
c.90060G>C (p.Gln30020His)
c.63954G>C (p.Gln21318His)
c.63813G>C (p.Gln21271His)
c.89856G>C (p.Gln29952His)
c.85254G>C (p.Gln28418His)
c.85251G>C (p.Gln28417His)
c.82293G>C (p.Gln27431His)
c.63909G>C (p.Gln21303His)
c.85404G>C (p.Gln28468His)
c.85401G>C (p.Gln28467His)
c.84834G>C (p.Gln28278His)
c.82176G>C (p.Gln27392His)
c.82095G>C (p.Gln27365His)
c.63858G>C (p.Gln21286His)
c.53712G>C (p.Gln17904His)
2g.178551937C>TCA430245526TTN,TTN-AS1c.83259G>A (p.Gln27753=)
c.64344G>A (p.Gln21448=)
c.64143G>A (p.Gln21381=)
c.63768G>A (p.Gln21256=)
c.90963G>A (p.Gln30321=)
c.86040G>A (p.Gln28680=)
n.447-19363C>T
n.2043+9576C>T
c.90060G>A (p.Gln30020=)
c.63954G>A (p.Gln21318=)
c.63813G>A (p.Gln21271=)
c.89856G>A (p.Gln29952=)
c.85254G>A (p.Gln28418=)
c.85251G>A (p.Gln28417=)
c.82293G>A (p.Gln27431=)
c.63909G>A (p.Gln21303=)
c.85404G>A (p.Gln28468=)
c.85401G>A (p.Gln28467=)
c.84834G>A (p.Gln28278=)
c.82176G>A (p.Gln27392=)
c.82095G>A (p.Gln27365=)
c.63858G>A (p.Gln21286=)
c.53712G>A (p.Gln17904=)
 gnomAD v4
2g.178551938T>ACA349505173TTN,TTN-AS1c.83258A>T (p.Gln27753Leu)
c.64343A>T (p.Gln21448Leu)
c.64142A>T (p.Gln21381Leu)
c.63767A>T (p.Gln21256Leu)
c.90962A>T (p.Gln30321Leu)
c.86039A>T (p.Gln28680Leu)
n.447-19362T>A
n.2043+9577T>A
c.90059A>T (p.Gln30020Leu)
c.63953A>T (p.Gln21318Leu)
c.63812A>T (p.Gln21271Leu)
c.89855A>T (p.Gln29952Leu)
c.85253A>T (p.Gln28418Leu)
c.85250A>T (p.Gln28417Leu)
c.82292A>T (p.Gln27431Leu)
c.63908A>T (p.Gln21303Leu)
c.85403A>T (p.Gln28468Leu)
c.85400A>T (p.Gln28467Leu)
c.84833A>T (p.Gln28278Leu)
c.82175A>T (p.Gln27392Leu)
c.82094A>T (p.Gln27365Leu)
c.63857A>T (p.Gln21286Leu)
c.53711A>T (p.Gln17904Leu)
2g.178551938T>CCA349505171TTN,TTN-AS1c.83258A>G (p.Gln27753Arg)
c.64343A>G (p.Gln21448Arg)
c.64142A>G (p.Gln21381Arg)
c.63767A>G (p.Gln21256Arg)
c.90962A>G (p.Gln30321Arg)
c.86039A>G (p.Gln28680Arg)
n.447-19362T>C
n.2043+9577T>C
c.90059A>G (p.Gln30020Arg)
c.63953A>G (p.Gln21318Arg)
c.63812A>G (p.Gln21271Arg)
c.89855A>G (p.Gln29952Arg)
c.85253A>G (p.Gln28418Arg)
c.85250A>G (p.Gln28417Arg)
c.82292A>G (p.Gln27431Arg)
c.63908A>G (p.Gln21303Arg)
c.85403A>G (p.Gln28468Arg)
c.85400A>G (p.Gln28467Arg)
c.84833A>G (p.Gln28278Arg)
c.82175A>G (p.Gln27392Arg)
c.82094A>G (p.Gln27365Arg)
c.63857A>G (p.Gln21286Arg)
c.53711A>G (p.Gln17904Arg)
2g.178551938T>GCA349505172TTN,TTN-AS1c.83258A>C (p.Gln27753Pro)
c.64343A>C (p.Gln21448Pro)
c.64142A>C (p.Gln21381Pro)
c.63767A>C (p.Gln21256Pro)
c.90962A>C (p.Gln30321Pro)
c.86039A>C (p.Gln28680Pro)
n.447-19362T>G
n.2043+9577T>G
c.90059A>C (p.Gln30020Pro)
c.63953A>C (p.Gln21318Pro)
c.63812A>C (p.Gln21271Pro)
c.89855A>C (p.Gln29952Pro)
c.85253A>C (p.Gln28418Pro)
c.85250A>C (p.Gln28417Pro)
c.82292A>C (p.Gln27431Pro)
c.63908A>C (p.Gln21303Pro)
c.85403A>C (p.Gln28468Pro)
c.85400A>C (p.Gln28467Pro)
c.84833A>C (p.Gln28278Pro)
c.82175A>C (p.Gln27392Pro)
c.82094A>C (p.Gln27365Pro)
c.63857A>C (p.Gln21286Pro)
c.53711A>C (p.Gln17904Pro)
2g.178551939G>ACA349505175TTN,TTN-AS1c.83257C>T (p.Gln27753Ter)
c.64342C>T (p.Gln21448Ter)
c.64141C>T (p.Gln21381Ter)
c.63766C>T (p.Gln21256Ter)
c.90961C>T (p.Gln30321Ter)
c.86038C>T (p.Gln28680Ter)
n.447-19361G>A
n.2043+9578G>A
c.90058C>T (p.Gln30020Ter)
c.63952C>T (p.Gln21318Ter)
c.63811C>T (p.Gln21271Ter)
c.89854C>T (p.Gln29952Ter)
c.85252C>T (p.Gln28418Ter)
c.85249C>T (p.Gln28417Ter)
c.82291C>T (p.Gln27431Ter)
c.63907C>T (p.Gln21303Ter)
c.85402C>T (p.Gln28468Ter)
c.85399C>T (p.Gln28467Ter)
c.84832C>T (p.Gln28278Ter)
c.82174C>T (p.Gln27392Ter)
c.82093C>T (p.Gln27365Ter)
c.63856C>T (p.Gln21286Ter)
c.53710C>T (p.Gln17904Ter)
2g.178551939G>CCA349505177TTN,TTN-AS1c.83257C>G (p.Gln27753Glu)
c.64342C>G (p.Gln21448Glu)
c.64141C>G (p.Gln21381Glu)
c.63766C>G (p.Gln21256Glu)
c.90961C>G (p.Gln30321Glu)
c.86038C>G (p.Gln28680Glu)
n.447-19361G>C
n.2043+9578G>C
c.90058C>G (p.Gln30020Glu)
c.63952C>G (p.Gln21318Glu)
c.63811C>G (p.Gln21271Glu)
c.89854C>G (p.Gln29952Glu)
c.85252C>G (p.Gln28418Glu)
c.85249C>G (p.Gln28417Glu)
c.82291C>G (p.Gln27431Glu)
c.63907C>G (p.Gln21303Glu)
c.85402C>G (p.Gln28468Glu)
c.85399C>G (p.Gln28467Glu)
c.84832C>G (p.Gln28278Glu)
c.82174C>G (p.Gln27392Glu)
c.82093C>G (p.Gln27365Glu)
c.63856C>G (p.Gln21286Glu)
c.53710C>G (p.Gln17904Glu)
2g.178551939G>TCA349505179TTN,TTN-AS1c.83257C>A (p.Gln27753Lys)
c.64342C>A (p.Gln21448Lys)
c.64141C>A (p.Gln21381Lys)
c.63766C>A (p.Gln21256Lys)
c.90961C>A (p.Gln30321Lys)
c.86038C>A (p.Gln28680Lys)
n.447-19361G>T
n.2043+9578G>T
c.90058C>A (p.Gln30020Lys)
c.63952C>A (p.Gln21318Lys)
c.63811C>A (p.Gln21271Lys)
c.89854C>A (p.Gln29952Lys)
c.85252C>A (p.Gln28418Lys)
c.85249C>A (p.Gln28417Lys)
c.82291C>A (p.Gln27431Lys)
c.63907C>A (p.Gln21303Lys)
c.85402C>A (p.Gln28468Lys)
c.85399C>A (p.Gln28467Lys)
c.84832C>A (p.Gln28278Lys)
c.82174C>A (p.Gln27392Lys)
c.82093C>A (p.Gln27365Lys)
c.63856C>A (p.Gln21286Lys)
c.53710C>A (p.Gln17904Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178551940G>ACA430244874TTN,TTN-AS1c.83256C>T (p.His27752=)
c.64341C>T (p.His21447=)
c.64140C>T (p.His21380=)
c.63765C>T (p.His21255=)
c.90960C>T (p.His30320=)
c.86037C>T (p.His28679=)
n.447-19360G>A
n.2043+9579G>A
c.90057C>T (p.His30019=)
c.63951C>T (p.His21317=)
c.63810C>T (p.His21270=)
c.89853C>T (p.His29951=)
c.85251C>T (p.His28417=)
c.85248C>T (p.His28416=)
c.82290C>T (p.His27430=)
c.63906C>T (p.His21302=)
c.85401C>T (p.His28467=)
c.85398C>T (p.His28466=)
c.84831C>T (p.His28277=)
c.82173C>T (p.His27391=)
c.82092C>T (p.His27364=)
c.63855C>T (p.His21285=)
c.53709C>T (p.His17903=)
2g.178551940G>CCA349505180TTN,TTN-AS1c.83256C>G (p.His27752Gln)
c.64341C>G (p.His21447Gln)
c.64140C>G (p.His21380Gln)
c.63765C>G (p.His21255Gln)
c.90960C>G (p.His30320Gln)
c.86037C>G (p.His28679Gln)
n.447-19360G>C
n.2043+9579G>C
c.90057C>G (p.His30019Gln)
c.63951C>G (p.His21317Gln)
c.63810C>G (p.His21270Gln)
c.89853C>G (p.His29951Gln)
c.85251C>G (p.His28417Gln)
c.85248C>G (p.His28416Gln)
c.82290C>G (p.His27430Gln)
c.63906C>G (p.His21302Gln)
c.85401C>G (p.His28467Gln)
c.85398C>G (p.His28466Gln)
c.84831C>G (p.His28277Gln)
c.82173C>G (p.His27391Gln)
c.82092C>G (p.His27364Gln)
c.63855C>G (p.His21285Gln)
c.53709C>G (p.His17903Gln)
2g.178551940G>TCA349505181TTN,TTN-AS1c.83256C>A (p.His27752Gln)
c.64341C>A (p.His21447Gln)
c.64140C>A (p.His21380Gln)
c.63765C>A (p.His21255Gln)
c.90960C>A (p.His30320Gln)
c.86037C>A (p.His28679Gln)
n.447-19360G>T
n.2043+9579G>T
c.90057C>A (p.His30019Gln)
c.63951C>A (p.His21317Gln)
c.63810C>A (p.His21270Gln)
c.89853C>A (p.His29951Gln)
c.85251C>A (p.His28417Gln)
c.85248C>A (p.His28416Gln)
c.82290C>A (p.His27430Gln)
c.63906C>A (p.His21302Gln)
c.85401C>A (p.His28467Gln)
c.85398C>A (p.His28466Gln)
c.84831C>A (p.His28277Gln)
c.82173C>A (p.His27391Gln)
c.82092C>A (p.His27364Gln)
c.63855C>A (p.His21285Gln)
c.53709C>A (p.His17903Gln)
2g.178551941T>ACA349505182TTN,TTN-AS1c.83255A>T (p.His27752Leu)
c.64340A>T (p.His21447Leu)
c.64139A>T (p.His21380Leu)
c.63764A>T (p.His21255Leu)
c.90959A>T (p.His30320Leu)
c.86036A>T (p.His28679Leu)
n.447-19359T>A
n.2043+9580T>A
c.90056A>T (p.His30019Leu)
c.63950A>T (p.His21317Leu)
c.63809A>T (p.His21270Leu)
c.89852A>T (p.His29951Leu)
c.85250A>T (p.His28417Leu)
c.85247A>T (p.His28416Leu)
c.82289A>T (p.His27430Leu)
c.63905A>T (p.His21302Leu)
c.85400A>T (p.His28467Leu)
c.85397A>T (p.His28466Leu)
c.84830A>T (p.His28277Leu)
c.82172A>T (p.His27391Leu)
c.82091A>T (p.His27364Leu)
c.63854A>T (p.His21285Leu)
c.53708A>T (p.His17903Leu)
2g.178551941T>CCA349505183TTN,TTN-AS1c.83255A>G (p.His27752Arg)
c.64340A>G (p.His21447Arg)
c.64139A>G (p.His21380Arg)
c.63764A>G (p.His21255Arg)
c.90959A>G (p.His30320Arg)
c.86036A>G (p.His28679Arg)
n.447-19359T>C
n.2043+9580T>C
c.90056A>G (p.His30019Arg)
c.63950A>G (p.His21317Arg)
c.63809A>G (p.His21270Arg)
c.89852A>G (p.His29951Arg)
c.85250A>G (p.His28417Arg)
c.85247A>G (p.His28416Arg)
c.82289A>G (p.His27430Arg)
c.63905A>G (p.His21302Arg)
c.85400A>G (p.His28467Arg)
c.85397A>G (p.His28466Arg)
c.84830A>G (p.His28277Arg)
c.82172A>G (p.His27391Arg)
c.82091A>G (p.His27364Arg)
c.63854A>G (p.His21285Arg)
c.53708A>G (p.His17903Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178551941T>GCA349505184TTN,TTN-AS1c.83255A>C (p.His27752Pro)
c.64340A>C (p.His21447Pro)
c.64139A>C (p.His21380Pro)
c.63764A>C (p.His21255Pro)
c.90959A>C (p.His30320Pro)
c.86036A>C (p.His28679Pro)
n.447-19359T>G
n.2043+9580T>G
c.90056A>C (p.His30019Pro)
c.63950A>C (p.His21317Pro)
c.63809A>C (p.His21270Pro)
c.89852A>C (p.His29951Pro)
c.85250A>C (p.His28417Pro)
c.85247A>C (p.His28416Pro)
c.82289A>C (p.His27430Pro)
c.63905A>C (p.His21302Pro)
c.85400A>C (p.His28467Pro)
c.85397A>C (p.His28466Pro)
c.84830A>C (p.His28277Pro)
c.82172A>C (p.His27391Pro)
c.82091A>C (p.His27364Pro)
c.63854A>C (p.His21285Pro)
c.53708A>C (p.His17903Pro)
2g.178551941T=CA1310521351TTN,TTN-AS1c.83255A= (p.His27752=)
c.64340A= (p.His21447=)
c.64139A= (p.His21380=)
c.63764A= (p.His21255=)
c.90959A= (p.His30320=)
c.86036A= (p.His28679=)
n.447-19359T=
n.2043+9580T=
c.90056A= (p.His30019=)
c.63950A= (p.His21317=)
c.63809A= (p.His21270=)
c.89852A= (p.His29951=)
c.85250A= (p.His28417=)
c.85247A= (p.His28416=)
c.82289A= (p.His27430=)
c.63905A= (p.His21302=)
c.85400A= (p.His28467=)
c.85397A= (p.His28466=)
c.84830A= (p.His28277=)
c.82172A= (p.His27391=)
c.82091A= (p.His27364=)
c.63854A= (p.His21285=)
c.53708A= (p.His17903=)
2g.178551942G>ACA349505185TTN,TTN-AS1c.83254C>T (p.His27752Tyr)
c.64339C>T (p.His21447Tyr)
c.64138C>T (p.His21380Tyr)
c.63763C>T (p.His21255Tyr)
c.90958C>T (p.His30320Tyr)
c.86035C>T (p.His28679Tyr)
n.447-19358G>A
n.2043+9581G>A
c.90055C>T (p.His30019Tyr)
c.63949C>T (p.His21317Tyr)
c.63808C>T (p.His21270Tyr)
c.89851C>T (p.His29951Tyr)
c.85249C>T (p.His28417Tyr)
c.85246C>T (p.His28416Tyr)
c.82288C>T (p.His27430Tyr)
c.63904C>T (p.His21302Tyr)
c.85399C>T (p.His28467Tyr)
c.85396C>T (p.His28466Tyr)
c.84829C>T (p.His28277Tyr)
c.82171C>T (p.His27391Tyr)
c.82090C>T (p.His27364Tyr)
c.63853C>T (p.His21285Tyr)
c.53707C>T (p.His17903Tyr)
 dbSNP
2g.178551942G>CCA349505186TTN,TTN-AS1c.83254C>G (p.His27752Asp)
c.64339C>G (p.His21447Asp)
c.64138C>G (p.His21380Asp)
c.63763C>G (p.His21255Asp)
c.90958C>G (p.His30320Asp)
c.86035C>G (p.His28679Asp)
n.447-19358G>C
n.2043+9581G>C
c.90055C>G (p.His30019Asp)
c.63949C>G (p.His21317Asp)
c.63808C>G (p.His21270Asp)
c.89851C>G (p.His29951Asp)
c.85249C>G (p.His28417Asp)
c.85246C>G (p.His28416Asp)
c.82288C>G (p.His27430Asp)
c.63904C>G (p.His21302Asp)
c.85399C>G (p.His28467Asp)
c.85396C>G (p.His28466Asp)
c.84829C>G (p.His28277Asp)
c.82171C>G (p.His27391Asp)
c.82090C>G (p.His27364Asp)
c.63853C>G (p.His21285Asp)
c.53707C>G (p.His17903Asp)
2g.178551942G=CA1310521354TTN,TTN-AS1c.83254C= (p.His27752=)
c.64339C= (p.His21447=)
c.64138C= (p.His21380=)
c.63763C= (p.His21255=)
c.90958C= (p.His30320=)
c.86035C= (p.His28679=)
n.447-19358G=
n.2043+9581G=
c.90055C= (p.His30019=)
c.63949C= (p.His21317=)
c.63808C= (p.His21270=)
c.89851C= (p.His29951=)
c.85249C= (p.His28417=)
c.85246C= (p.His28416=)
c.82288C= (p.His27430=)
c.63904C= (p.His21302=)
c.85399C= (p.His28467=)
c.85396C= (p.His28466=)
c.84829C= (p.His28277=)
c.82171C= (p.His27391=)
c.82090C= (p.His27364=)
c.63853C= (p.His21285=)
c.53707C= (p.His17903=)
2g.178551942G>TCA349505189TTN,TTN-AS1c.83254C>A (p.His27752Asn)
c.64339C>A (p.His21447Asn)
c.64138C>A (p.His21380Asn)
c.63763C>A (p.His21255Asn)
c.90958C>A (p.His30320Asn)
c.86035C>A (p.His28679Asn)
n.447-19358G>T
n.2043+9581G>T
c.90055C>A (p.His30019Asn)
c.63949C>A (p.His21317Asn)
c.63808C>A (p.His21270Asn)
c.89851C>A (p.His29951Asn)
c.85249C>A (p.His28417Asn)
c.85246C>A (p.His28416Asn)
c.82288C>A (p.His27430Asn)
c.63904C>A (p.His21302Asn)
c.85399C>A (p.His28467Asn)
c.85396C>A (p.His28466Asn)
c.84829C>A (p.His28277Asn)
c.82171C>A (p.His27391Asn)
c.82090C>A (p.His27364Asn)
c.63853C>A (p.His21285Asn)
c.53707C>A (p.His17903Asn)
2g.178551943T>ACA349505194TTN,TTN-AS1c.83253A>T (p.Lys27751Asn)
c.64338A>T (p.Lys21446Asn)
c.64137A>T (p.Lys21379Asn)
c.63762A>T (p.Lys21254Asn)
c.90957A>T (p.Lys30319Asn)
c.86034A>T (p.Lys28678Asn)
n.447-19357T>A
n.2043+9582T>A
c.90054A>T (p.Lys30018Asn)
c.63948A>T (p.Lys21316Asn)
c.63807A>T (p.Lys21269Asn)
c.89850A>T (p.Lys29950Asn)
c.85248A>T (p.Lys28416Asn)
c.85245A>T (p.Lys28415Asn)
c.82287A>T (p.Lys27429Asn)
c.63903A>T (p.Lys21301Asn)
c.85398A>T (p.Lys28466Asn)
c.85395A>T (p.Lys28465Asn)
c.84828A>T (p.Lys28276Asn)
c.82170A>T (p.Lys27390Asn)
c.82089A>T (p.Lys27363Asn)
c.63852A>T (p.Lys21284Asn)
c.53706A>T (p.Lys17902Asn)
2g.178551943T>CCA430244878TTN,TTN-AS1c.83253A>G (p.Lys27751=)
c.64338A>G (p.Lys21446=)
c.64137A>G (p.Lys21379=)
c.63762A>G (p.Lys21254=)
c.90957A>G (p.Lys30319=)
c.86034A>G (p.Lys28678=)
n.447-19357T>C
n.2043+9582T>C
c.90054A>G (p.Lys30018=)
c.63948A>G (p.Lys21316=)
c.63807A>G (p.Lys21269=)
c.89850A>G (p.Lys29950=)
c.85248A>G (p.Lys28416=)
c.85245A>G (p.Lys28415=)
c.82287A>G (p.Lys27429=)
c.63903A>G (p.Lys21301=)
c.85398A>G (p.Lys28466=)
c.85395A>G (p.Lys28465=)
c.84828A>G (p.Lys28276=)
c.82170A>G (p.Lys27390=)
c.82089A>G (p.Lys27363=)
c.63852A>G (p.Lys21284=)
c.53706A>G (p.Lys17902=)
2g.178551943T>GCA349505196TTN,TTN-AS1c.83253A>C (p.Lys27751Asn)
c.64338A>C (p.Lys21446Asn)
c.64137A>C (p.Lys21379Asn)
c.63762A>C (p.Lys21254Asn)
c.90957A>C (p.Lys30319Asn)
c.86034A>C (p.Lys28678Asn)
n.447-19357T>G
n.2043+9582T>G
c.90054A>C (p.Lys30018Asn)
c.63948A>C (p.Lys21316Asn)
c.63807A>C (p.Lys21269Asn)
c.89850A>C (p.Lys29950Asn)
c.85248A>C (p.Lys28416Asn)
c.85245A>C (p.Lys28415Asn)
c.82287A>C (p.Lys27429Asn)
c.63903A>C (p.Lys21301Asn)
c.85398A>C (p.Lys28466Asn)
c.85395A>C (p.Lys28465Asn)
c.84828A>C (p.Lys28276Asn)
c.82170A>C (p.Lys27390Asn)
c.82089A>C (p.Lys27363Asn)
c.63852A>C (p.Lys21284Asn)
c.53706A>C (p.Lys17902Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178551943T=CA1310521356TTN,TTN-AS1c.83253A= (p.Lys27751=)
c.64338A= (p.Lys21446=)
c.64137A= (p.Lys21379=)
c.63762A= (p.Lys21254=)
c.90957A= (p.Lys30319=)
c.86034A= (p.Lys28678=)
n.447-19357T=
n.2043+9582T=
c.90054A= (p.Lys30018=)
c.63948A= (p.Lys21316=)
c.63807A= (p.Lys21269=)
c.89850A= (p.Lys29950=)
c.85248A= (p.Lys28416=)
c.85245A= (p.Lys28415=)
c.82287A= (p.Lys27429=)
c.63903A= (p.Lys21301=)
c.85398A= (p.Lys28466=)
c.85395A= (p.Lys28465=)
c.84828A= (p.Lys28276=)
c.82170A= (p.Lys27390=)
c.82089A= (p.Lys27363=)
c.63852A= (p.Lys21284=)
c.53706A= (p.Lys17902=)
2g.178551944T>ACA349505221TTN,TTN-AS1c.83252A>T (p.Lys27751Ile)
c.64337A>T (p.Lys21446Ile)
c.64136A>T (p.Lys21379Ile)
c.63761A>T (p.Lys21254Ile)
c.90956A>T (p.Lys30319Ile)
c.86033A>T (p.Lys28678Ile)
n.447-19356T>A
n.2043+9583T>A
c.90053A>T (p.Lys30018Ile)
c.63947A>T (p.Lys21316Ile)
c.63806A>T (p.Lys21269Ile)
c.89849A>T (p.Lys29950Ile)
c.85247A>T (p.Lys28416Ile)
c.85244A>T (p.Lys28415Ile)
c.82286A>T (p.Lys27429Ile)
c.63902A>T (p.Lys21301Ile)
c.85397A>T (p.Lys28466Ile)
c.85394A>T (p.Lys28465Ile)
c.84827A>T (p.Lys28276Ile)
c.82169A>T (p.Lys27390Ile)
c.82088A>T (p.Lys27363Ile)
c.63851A>T (p.Lys21284Ile)
c.53705A>T (p.Lys17902Ile)
2g.178551944T>CCA349505209TTN,TTN-AS1c.83252A>G (p.Lys27751Arg)
c.64337A>G (p.Lys21446Arg)
c.64136A>G (p.Lys21379Arg)
c.63761A>G (p.Lys21254Arg)
c.90956A>G (p.Lys30319Arg)
c.86033A>G (p.Lys28678Arg)
n.447-19356T>C
n.2043+9583T>C
c.90053A>G (p.Lys30018Arg)
c.63947A>G (p.Lys21316Arg)
c.63806A>G (p.Lys21269Arg)
c.89849A>G (p.Lys29950Arg)
c.85247A>G (p.Lys28416Arg)
c.85244A>G (p.Lys28415Arg)
c.82286A>G (p.Lys27429Arg)
c.63902A>G (p.Lys21301Arg)
c.85397A>G (p.Lys28466Arg)
c.85394A>G (p.Lys28465Arg)
c.84827A>G (p.Lys28276Arg)
c.82169A>G (p.Lys27390Arg)
c.82088A>G (p.Lys27363Arg)
c.63851A>G (p.Lys21284Arg)
c.53705A>G (p.Lys17902Arg)
2g.178551944T>GCA349505212TTN,TTN-AS1c.83252A>C (p.Lys27751Thr)
c.64337A>C (p.Lys21446Thr)
c.64136A>C (p.Lys21379Thr)
c.63761A>C (p.Lys21254Thr)
c.90956A>C (p.Lys30319Thr)
c.86033A>C (p.Lys28678Thr)
n.447-19356T>G
n.2043+9583T>G
c.90053A>C (p.Lys30018Thr)
c.63947A>C (p.Lys21316Thr)
c.63806A>C (p.Lys21269Thr)
c.89849A>C (p.Lys29950Thr)
c.85247A>C (p.Lys28416Thr)
c.85244A>C (p.Lys28415Thr)
c.82286A>C (p.Lys27429Thr)
c.63902A>C (p.Lys21301Thr)
c.85397A>C (p.Lys28466Thr)
c.85394A>C (p.Lys28465Thr)
c.84827A>C (p.Lys28276Thr)
c.82169A>C (p.Lys27390Thr)
c.82088A>C (p.Lys27363Thr)
c.63851A>C (p.Lys21284Thr)
c.53705A>C (p.Lys17902Thr)
2g.178551945T>ACA349505224TTN,TTN-AS1c.83251A>T (p.Lys27751Ter)
c.64336A>T (p.Lys21446Ter)
c.64135A>T (p.Lys21379Ter)
c.63760A>T (p.Lys21254Ter)
c.90955A>T (p.Lys30319Ter)
c.86032A>T (p.Lys28678Ter)
n.447-19355T>A
n.2043+9584T>A
c.90052A>T (p.Lys30018Ter)
c.63946A>T (p.Lys21316Ter)
c.63805A>T (p.Lys21269Ter)
c.89848A>T (p.Lys29950Ter)
c.85246A>T (p.Lys28416Ter)
c.85243A>T (p.Lys28415Ter)
c.82285A>T (p.Lys27429Ter)
c.63901A>T (p.Lys21301Ter)
c.85396A>T (p.Lys28466Ter)
c.85393A>T (p.Lys28465Ter)
c.84826A>T (p.Lys28276Ter)
c.82168A>T (p.Lys27390Ter)
c.82087A>T (p.Lys27363Ter)
c.63850A>T (p.Lys21284Ter)
c.53704A>T (p.Lys17902Ter)
2g.178551945T>CCA349505227TTN,TTN-AS1c.83251A>G (p.Lys27751Glu)
c.64336A>G (p.Lys21446Glu)
c.64135A>G (p.Lys21379Glu)
c.63760A>G (p.Lys21254Glu)
c.90955A>G (p.Lys30319Glu)
c.86032A>G (p.Lys28678Glu)
n.447-19355T>C
n.2043+9584T>C
c.90052A>G (p.Lys30018Glu)
c.63946A>G (p.Lys21316Glu)
c.63805A>G (p.Lys21269Glu)
c.89848A>G (p.Lys29950Glu)
c.85246A>G (p.Lys28416Glu)
c.85243A>G (p.Lys28415Glu)
c.82285A>G (p.Lys27429Glu)
c.63901A>G (p.Lys21301Glu)
c.85396A>G (p.Lys28466Glu)
c.85393A>G (p.Lys28465Glu)
c.84826A>G (p.Lys28276Glu)
c.82168A>G (p.Lys27390Glu)
c.82087A>G (p.Lys27363Glu)
c.63850A>G (p.Lys21284Glu)
c.53704A>G (p.Lys17902Glu)
2g.178551945T>GCA349505230TTN,TTN-AS1c.83251A>C (p.Lys27751Gln)
c.64336A>C (p.Lys21446Gln)
c.64135A>C (p.Lys21379Gln)
c.63760A>C (p.Lys21254Gln)
c.90955A>C (p.Lys30319Gln)
c.86032A>C (p.Lys28678Gln)
n.447-19355T>G
n.2043+9584T>G
c.90052A>C (p.Lys30018Gln)
c.63946A>C (p.Lys21316Gln)
c.63805A>C (p.Lys21269Gln)
c.89848A>C (p.Lys29950Gln)
c.85246A>C (p.Lys28416Gln)
c.85243A>C (p.Lys28415Gln)
c.82285A>C (p.Lys27429Gln)
c.63901A>C (p.Lys21301Gln)
c.85396A>C (p.Lys28466Gln)
c.85393A>C (p.Lys28465Gln)
c.84826A>C (p.Lys28276Gln)
c.82168A>C (p.Lys27390Gln)
c.82087A>C (p.Lys27363Gln)
c.63850A>C (p.Lys21284Gln)
c.53704A>C (p.Lys17902Gln)
2g.178551946T>ACA430244881TTN,TTN-AS1c.83250A>T (p.Ala27750=)
c.64335A>T (p.Ala21445=)
c.64134A>T (p.Ala21378=)
c.63759A>T (p.Ala21253=)
c.90954A>T (p.Ala30318=)
c.86031A>T (p.Ala28677=)
n.447-19354T>A
n.2043+9585T>A
c.90051A>T (p.Ala30017=)
c.63945A>T (p.Ala21315=)
c.63804A>T (p.Ala21268=)
c.89847A>T (p.Ala29949=)
c.85245A>T (p.Ala28415=)
c.85242A>T (p.Ala28414=)
c.82284A>T (p.Ala27428=)
c.63900A>T (p.Ala21300=)
c.85395A>T (p.Ala28465=)
c.85392A>T (p.Ala28464=)
c.84825A>T (p.Ala28275=)
c.82167A>T (p.Ala27389=)
c.82086A>T (p.Ala27362=)
c.63849A>T (p.Ala21283=)
c.53703A>T (p.Ala17901=)
2g.178551946T>CCA430244882TTN,TTN-AS1c.83250A>G (p.Ala27750=)
c.64335A>G (p.Ala21445=)
c.64134A>G (p.Ala21378=)
c.63759A>G (p.Ala21253=)
c.90954A>G (p.Ala30318=)
c.86031A>G (p.Ala28677=)
n.447-19354T>C
n.2043+9585T>C
c.90051A>G (p.Ala30017=)
c.63945A>G (p.Ala21315=)
c.63804A>G (p.Ala21268=)
c.89847A>G (p.Ala29949=)
c.85245A>G (p.Ala28415=)
c.85242A>G (p.Ala28414=)
c.82284A>G (p.Ala27428=)
c.63900A>G (p.Ala21300=)
c.85395A>G (p.Ala28465=)
c.85392A>G (p.Ala28464=)
c.84825A>G (p.Ala28275=)
c.82167A>G (p.Ala27389=)
c.82086A>G (p.Ala27362=)
c.63849A>G (p.Ala21283=)
c.53703A>G (p.Ala17901=)

Number of alleles fetched