Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178593046A=CA1310540311TTN,TTN-AS1c.51369T= (p.Asp17123=)
c.32454T= (p.Asp10818=)
c.32253T= (p.Asp10751=)
c.31878T= (p.Asp10626=)
c.59073T= (p.Asp19691=)
c.54150T= (p.Asp18050=)
n.597-4550A=
n.3364+1732A=
c.58170T= (p.Asp19390=)
c.32064T= (p.Asp10688=)
c.31923T= (p.Asp10641=)
c.57966T= (p.Asp19322=)
c.53364T= (p.Asp17788=)
c.53361T= (p.Asp17787=)
c.50403T= (p.Asp16801=)
c.32019T= (p.Asp10673=)
c.53514T= (p.Asp17838=)
c.53511T= (p.Asp17837=)
c.52944T= (p.Asp17648=)
c.50286T= (p.Asp16762=)
c.50205T= (p.Asp16735=)
c.31968T= (p.Asp10656=)
c.21822T= (p.Asp7274=)
2g.178593046A>CCA349496484TTN,TTN-AS1c.51369T>G (p.Asp17123Glu)
c.32454T>G (p.Asp10818Glu)
c.32253T>G (p.Asp10751Glu)
c.31878T>G (p.Asp10626Glu)
c.59073T>G (p.Asp19691Glu)
c.54150T>G (p.Asp18050Glu)
n.597-4550A>C
n.3364+1732A>C
c.58170T>G (p.Asp19390Glu)
c.32064T>G (p.Asp10688Glu)
c.31923T>G (p.Asp10641Glu)
c.57966T>G (p.Asp19322Glu)
c.53364T>G (p.Asp17788Glu)
c.53361T>G (p.Asp17787Glu)
c.50403T>G (p.Asp16801Glu)
c.32019T>G (p.Asp10673Glu)
c.53514T>G (p.Asp17838Glu)
c.53511T>G (p.Asp17837Glu)
c.52944T>G (p.Asp17648Glu)
c.50286T>G (p.Asp16762Glu)
c.50205T>G (p.Asp16735Glu)
c.31968T>G (p.Asp10656Glu)
c.21822T>G (p.Asp7274Glu)
 gnomAD v4
2g.178593046A>GCA1992721TTN,TTN-AS1c.51369T>C (p.Asp17123=)
c.32454T>C (p.Asp10818=)
c.32253T>C (p.Asp10751=)
c.31878T>C (p.Asp10626=)
c.59073T>C (p.Asp19691=)
c.54150T>C (p.Asp18050=)
n.597-4550A>G
n.3364+1732A>G
c.58170T>C (p.Asp19390=)
c.32064T>C (p.Asp10688=)
c.31923T>C (p.Asp10641=)
c.57966T>C (p.Asp19322=)
c.53364T>C (p.Asp17788=)
c.53361T>C (p.Asp17787=)
c.50403T>C (p.Asp16801=)
c.32019T>C (p.Asp10673=)
c.53514T>C (p.Asp17838=)
c.53511T>C (p.Asp17837=)
c.52944T>C (p.Asp17648=)
c.50286T>C (p.Asp16762=)
c.50205T>C (p.Asp16735=)
c.31968T>C (p.Asp10656=)
c.21822T>C (p.Asp7274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593046A>TCA349496479TTN,TTN-AS1c.51369T>A (p.Asp17123Glu)
c.32454T>A (p.Asp10818Glu)
c.32253T>A (p.Asp10751Glu)
c.31878T>A (p.Asp10626Glu)
c.59073T>A (p.Asp19691Glu)
c.54150T>A (p.Asp18050Glu)
n.597-4550A>T
n.3364+1732A>T
c.58170T>A (p.Asp19390Glu)
c.32064T>A (p.Asp10688Glu)
c.31923T>A (p.Asp10641Glu)
c.57966T>A (p.Asp19322Glu)
c.53364T>A (p.Asp17788Glu)
c.53361T>A (p.Asp17787Glu)
c.50403T>A (p.Asp16801Glu)
c.32019T>A (p.Asp10673Glu)
c.53514T>A (p.Asp17838Glu)
c.53511T>A (p.Asp17837Glu)
c.52944T>A (p.Asp17648Glu)
c.50286T>A (p.Asp16762Glu)
c.50205T>A (p.Asp16735Glu)
c.31968T>A (p.Asp10656Glu)
c.21822T>A (p.Asp7274Glu)
2g.178593047T>ACA349496498TTN,TTN-AS1c.51368A>T (p.Asp17123Val)
c.32453A>T (p.Asp10818Val)
c.32252A>T (p.Asp10751Val)
c.31877A>T (p.Asp10626Val)
c.59072A>T (p.Asp19691Val)
c.54149A>T (p.Asp18050Val)
n.597-4549T>A
n.3364+1733T>A
c.58169A>T (p.Asp19390Val)
c.32063A>T (p.Asp10688Val)
c.31922A>T (p.Asp10641Val)
c.57965A>T (p.Asp19322Val)
c.53363A>T (p.Asp17788Val)
c.53360A>T (p.Asp17787Val)
c.50402A>T (p.Asp16801Val)
c.32018A>T (p.Asp10673Val)
c.53513A>T (p.Asp17838Val)
c.53510A>T (p.Asp17837Val)
c.52943A>T (p.Asp17648Val)
c.50285A>T (p.Asp16762Val)
c.50204A>T (p.Asp16735Val)
c.31967A>T (p.Asp10656Val)
c.21821A>T (p.Asp7274Val)
2g.178593047T>CCA349496495TTN,TTN-AS1c.51368A>G (p.Asp17123Gly)
c.32453A>G (p.Asp10818Gly)
c.32252A>G (p.Asp10751Gly)
c.31877A>G (p.Asp10626Gly)
c.59072A>G (p.Asp19691Gly)
c.54149A>G (p.Asp18050Gly)
n.597-4549T>C
n.3364+1733T>C
c.58169A>G (p.Asp19390Gly)
c.32063A>G (p.Asp10688Gly)
c.31922A>G (p.Asp10641Gly)
c.57965A>G (p.Asp19322Gly)
c.53363A>G (p.Asp17788Gly)
c.53360A>G (p.Asp17787Gly)
c.50402A>G (p.Asp16801Gly)
c.32018A>G (p.Asp10673Gly)
c.53513A>G (p.Asp17838Gly)
c.53510A>G (p.Asp17837Gly)
c.52943A>G (p.Asp17648Gly)
c.50285A>G (p.Asp16762Gly)
c.50204A>G (p.Asp16735Gly)
c.31967A>G (p.Asp10656Gly)
c.21821A>G (p.Asp7274Gly)
2g.178593047T>GCA349496512TTN,TTN-AS1c.51368A>C (p.Asp17123Ala)
c.32453A>C (p.Asp10818Ala)
c.32252A>C (p.Asp10751Ala)
c.31877A>C (p.Asp10626Ala)
c.59072A>C (p.Asp19691Ala)
c.54149A>C (p.Asp18050Ala)
n.597-4549T>G
n.3364+1733T>G
c.58169A>C (p.Asp19390Ala)
c.32063A>C (p.Asp10688Ala)
c.31922A>C (p.Asp10641Ala)
c.57965A>C (p.Asp19322Ala)
c.53363A>C (p.Asp17788Ala)
c.53360A>C (p.Asp17787Ala)
c.50402A>C (p.Asp16801Ala)
c.32018A>C (p.Asp10673Ala)
c.53513A>C (p.Asp17838Ala)
c.53510A>C (p.Asp17837Ala)
c.52943A>C (p.Asp17648Ala)
c.50285A>C (p.Asp16762Ala)
c.50204A>C (p.Asp16735Ala)
c.31967A>C (p.Asp10656Ala)
c.21821A>C (p.Asp7274Ala)
2g.178593048C>ACA349496516TTN,TTN-AS1c.51367G>T (p.Asp17123Tyr)
c.32452G>T (p.Asp10818Tyr)
c.32251G>T (p.Asp10751Tyr)
c.31876G>T (p.Asp10626Tyr)
c.59071G>T (p.Asp19691Tyr)
c.54148G>T (p.Asp18050Tyr)
n.597-4548C>A
n.3364+1734C>A
c.58168G>T (p.Asp19390Tyr)
c.32062G>T (p.Asp10688Tyr)
c.31921G>T (p.Asp10641Tyr)
c.57964G>T (p.Asp19322Tyr)
c.53362G>T (p.Asp17788Tyr)
c.53359G>T (p.Asp17787Tyr)
c.50401G>T (p.Asp16801Tyr)
c.32017G>T (p.Asp10673Tyr)
c.53512G>T (p.Asp17838Tyr)
c.53509G>T (p.Asp17837Tyr)
c.52942G>T (p.Asp17648Tyr)
c.50284G>T (p.Asp16762Tyr)
c.50203G>T (p.Asp16735Tyr)
c.31966G>T (p.Asp10656Tyr)
c.21820G>T (p.Asp7274Tyr)
2g.178593048C>GCA349496522TTN,TTN-AS1c.51367G>C (p.Asp17123His)
c.32452G>C (p.Asp10818His)
c.32251G>C (p.Asp10751His)
c.31876G>C (p.Asp10626His)
c.59071G>C (p.Asp19691His)
c.54148G>C (p.Asp18050His)
n.597-4548C>G
n.3364+1734C>G
c.58168G>C (p.Asp19390His)
c.32062G>C (p.Asp10688His)
c.31921G>C (p.Asp10641His)
c.57964G>C (p.Asp19322His)
c.53362G>C (p.Asp17788His)
c.53359G>C (p.Asp17787His)
c.50401G>C (p.Asp16801His)
c.32017G>C (p.Asp10673His)
c.53512G>C (p.Asp17838His)
c.53509G>C (p.Asp17837His)
c.52942G>C (p.Asp17648His)
c.50284G>C (p.Asp16762His)
c.50203G>C (p.Asp16735His)
c.31966G>C (p.Asp10656His)
c.21820G>C (p.Asp7274His)
2g.178593048C>TCA349496528TTN,TTN-AS1c.51367G>A (p.Asp17123Asn)
c.32452G>A (p.Asp10818Asn)
c.32251G>A (p.Asp10751Asn)
c.31876G>A (p.Asp10626Asn)
c.59071G>A (p.Asp19691Asn)
c.54148G>A (p.Asp18050Asn)
n.597-4548C>T
n.3364+1734C>T
c.58168G>A (p.Asp19390Asn)
c.32062G>A (p.Asp10688Asn)
c.31921G>A (p.Asp10641Asn)
c.57964G>A (p.Asp19322Asn)
c.53362G>A (p.Asp17788Asn)
c.53359G>A (p.Asp17787Asn)
c.50401G>A (p.Asp16801Asn)
c.32017G>A (p.Asp10673Asn)
c.53512G>A (p.Asp17838Asn)
c.53509G>A (p.Asp17837Asn)
c.52942G>A (p.Asp17648Asn)
c.50284G>A (p.Asp16762Asn)
c.50203G>A (p.Asp16735Asn)
c.31966G>A (p.Asp10656Asn)
c.21820G>A (p.Asp7274Asn)
2g.178593049T>ACA430267828TTN,TTN-AS1c.51366A>T (p.Ile17122=)
c.32451A>T (p.Ile10817=)
c.32250A>T (p.Ile10750=)
c.31875A>T (p.Ile10625=)
c.59070A>T (p.Ile19690=)
c.54147A>T (p.Ile18049=)
n.597-4547T>A
n.3364+1735T>A
c.58167A>T (p.Ile19389=)
c.32061A>T (p.Ile10687=)
c.31920A>T (p.Ile10640=)
c.57963A>T (p.Ile19321=)
c.53361A>T (p.Ile17787=)
c.53358A>T (p.Ile17786=)
c.50400A>T (p.Ile16800=)
c.32016A>T (p.Ile10672=)
c.53511A>T (p.Ile17837=)
c.53508A>T (p.Ile17836=)
c.52941A>T (p.Ile17647=)
c.50283A>T (p.Ile16761=)
c.50202A>T (p.Ile16734=)
c.31965A>T (p.Ile10655=)
c.21819A>T (p.Ile7273=)
2g.178593049T>CCA349496542TTN,TTN-AS1c.51366A>G (p.Ile17122Met)
c.32451A>G (p.Ile10817Met)
c.32250A>G (p.Ile10750Met)
c.31875A>G (p.Ile10625Met)
c.59070A>G (p.Ile19690Met)
c.54147A>G (p.Ile18049Met)
n.597-4547T>C
n.3364+1735T>C
c.58167A>G (p.Ile19389Met)
c.32061A>G (p.Ile10687Met)
c.31920A>G (p.Ile10640Met)
c.57963A>G (p.Ile19321Met)
c.53361A>G (p.Ile17787Met)
c.53358A>G (p.Ile17786Met)
c.50400A>G (p.Ile16800Met)
c.32016A>G (p.Ile10672Met)
c.53511A>G (p.Ile17837Met)
c.53508A>G (p.Ile17836Met)
c.52941A>G (p.Ile17647Met)
c.50283A>G (p.Ile16761Met)
c.50202A>G (p.Ile16734Met)
c.31965A>G (p.Ile10655Met)
c.21819A>G (p.Ile7273Met)
2g.178593049T>GCA430267829TTN,TTN-AS1c.51366A>C (p.Ile17122=)
c.32451A>C (p.Ile10817=)
c.32250A>C (p.Ile10750=)
c.31875A>C (p.Ile10625=)
c.59070A>C (p.Ile19690=)
c.54147A>C (p.Ile18049=)
n.597-4547T>G
n.3364+1735T>G
c.58167A>C (p.Ile19389=)
c.32061A>C (p.Ile10687=)
c.31920A>C (p.Ile10640=)
c.57963A>C (p.Ile19321=)
c.53361A>C (p.Ile17787=)
c.53358A>C (p.Ile17786=)
c.50400A>C (p.Ile16800=)
c.32016A>C (p.Ile10672=)
c.53511A>C (p.Ile17837=)
c.53508A>C (p.Ile17836=)
c.52941A>C (p.Ile17647=)
c.50283A>C (p.Ile16761=)
c.50202A>C (p.Ile16734=)
c.31965A>C (p.Ile10655=)
c.21819A>C (p.Ile7273=)
2g.178593050A=CA1310540314TTN,TTN-AS1c.51365T= (p.Ile17122=)
c.32450T= (p.Ile10817=)
c.32249T= (p.Ile10750=)
c.31874T= (p.Ile10625=)
c.59069T= (p.Ile19690=)
c.54146T= (p.Ile18049=)
n.597-4546A=
n.3364+1736A=
c.58166T= (p.Ile19389=)
c.32060T= (p.Ile10687=)
c.31919T= (p.Ile10640=)
c.57962T= (p.Ile19321=)
c.53360T= (p.Ile17787=)
c.53357T= (p.Ile17786=)
c.50399T= (p.Ile16800=)
c.32015T= (p.Ile10672=)
c.53510T= (p.Ile17837=)
c.53507T= (p.Ile17836=)
c.52940T= (p.Ile17647=)
c.50282T= (p.Ile16761=)
c.50201T= (p.Ile16734=)
c.31964T= (p.Ile10655=)
c.21818T= (p.Ile7273=)
2g.178593050A>CCA349496543TTN,TTN-AS1c.51365T>G (p.Ile17122Arg)
c.32450T>G (p.Ile10817Arg)
c.32249T>G (p.Ile10750Arg)
c.31874T>G (p.Ile10625Arg)
c.59069T>G (p.Ile19690Arg)
c.54146T>G (p.Ile18049Arg)
n.597-4546A>C
n.3364+1736A>C
c.58166T>G (p.Ile19389Arg)
c.32060T>G (p.Ile10687Arg)
c.31919T>G (p.Ile10640Arg)
c.57962T>G (p.Ile19321Arg)
c.53360T>G (p.Ile17787Arg)
c.53357T>G (p.Ile17786Arg)
c.50399T>G (p.Ile16800Arg)
c.32015T>G (p.Ile10672Arg)
c.53510T>G (p.Ile17837Arg)
c.53507T>G (p.Ile17836Arg)
c.52940T>G (p.Ile17647Arg)
c.50282T>G (p.Ile16761Arg)
c.50201T>G (p.Ile16734Arg)
c.31964T>G (p.Ile10655Arg)
c.21818T>G (p.Ile7273Arg)
2g.178593050A>GCA349496545TTN,TTN-AS1c.51365T>C (p.Ile17122Thr)
c.32450T>C (p.Ile10817Thr)
c.32249T>C (p.Ile10750Thr)
c.31874T>C (p.Ile10625Thr)
c.59069T>C (p.Ile19690Thr)
c.54146T>C (p.Ile18049Thr)
n.597-4546A>G
n.3364+1736A>G
c.58166T>C (p.Ile19389Thr)
c.32060T>C (p.Ile10687Thr)
c.31919T>C (p.Ile10640Thr)
c.57962T>C (p.Ile19321Thr)
c.53360T>C (p.Ile17787Thr)
c.53357T>C (p.Ile17786Thr)
c.50399T>C (p.Ile16800Thr)
c.32015T>C (p.Ile10672Thr)
c.53510T>C (p.Ile17837Thr)
c.53507T>C (p.Ile17836Thr)
c.52940T>C (p.Ile17647Thr)
c.50282T>C (p.Ile16761Thr)
c.50201T>C (p.Ile16734Thr)
c.31964T>C (p.Ile10655Thr)
c.21818T>C (p.Ile7273Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178593050A>TCA349496548TTN,TTN-AS1c.51365T>A (p.Ile17122Lys)
c.32450T>A (p.Ile10817Lys)
c.32249T>A (p.Ile10750Lys)
c.31874T>A (p.Ile10625Lys)
c.59069T>A (p.Ile19690Lys)
c.54146T>A (p.Ile18049Lys)
n.597-4546A>T
n.3364+1736A>T
c.58166T>A (p.Ile19389Lys)
c.32060T>A (p.Ile10687Lys)
c.31919T>A (p.Ile10640Lys)
c.57962T>A (p.Ile19321Lys)
c.53360T>A (p.Ile17787Lys)
c.53357T>A (p.Ile17786Lys)
c.50399T>A (p.Ile16800Lys)
c.32015T>A (p.Ile10672Lys)
c.53510T>A (p.Ile17837Lys)
c.53507T>A (p.Ile17836Lys)
c.52940T>A (p.Ile17647Lys)
c.50282T>A (p.Ile16761Lys)
c.50201T>A (p.Ile16734Lys)
c.31964T>A (p.Ile10655Lys)
c.21818T>A (p.Ile7273Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178593051T>ACA349496551TTN,TTN-AS1c.51364A>T (p.Ile17122Leu)
c.32449A>T (p.Ile10817Leu)
c.32248A>T (p.Ile10750Leu)
c.31873A>T (p.Ile10625Leu)
c.59068A>T (p.Ile19690Leu)
c.54145A>T (p.Ile18049Leu)
n.597-4545T>A
n.3364+1737T>A
c.58165A>T (p.Ile19389Leu)
c.32059A>T (p.Ile10687Leu)
c.31918A>T (p.Ile10640Leu)
c.57961A>T (p.Ile19321Leu)
c.53359A>T (p.Ile17787Leu)
c.53356A>T (p.Ile17786Leu)
c.50398A>T (p.Ile16800Leu)
c.32014A>T (p.Ile10672Leu)
c.53509A>T (p.Ile17837Leu)
c.53506A>T (p.Ile17836Leu)
c.52939A>T (p.Ile17647Leu)
c.50281A>T (p.Ile16761Leu)
c.50200A>T (p.Ile16734Leu)
c.31963A>T (p.Ile10655Leu)
c.21817A>T (p.Ile7273Leu)
2g.178593051T>CCA349496552TTN,TTN-AS1c.51364A>G (p.Ile17122Val)
c.32449A>G (p.Ile10817Val)
c.32248A>G (p.Ile10750Val)
c.31873A>G (p.Ile10625Val)
c.59068A>G (p.Ile19690Val)
c.54145A>G (p.Ile18049Val)
n.597-4545T>C
n.3364+1737T>C
c.58165A>G (p.Ile19389Val)
c.32059A>G (p.Ile10687Val)
c.31918A>G (p.Ile10640Val)
c.57961A>G (p.Ile19321Val)
c.53359A>G (p.Ile17787Val)
c.53356A>G (p.Ile17786Val)
c.50398A>G (p.Ile16800Val)
c.32014A>G (p.Ile10672Val)
c.53509A>G (p.Ile17837Val)
c.53506A>G (p.Ile17836Val)
c.52939A>G (p.Ile17647Val)
c.50281A>G (p.Ile16761Val)
c.50200A>G (p.Ile16734Val)
c.31963A>G (p.Ile10655Val)
c.21817A>G (p.Ile7273Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178593051T>GCA349496553TTN,TTN-AS1c.51364A>C (p.Ile17122Leu)
c.32449A>C (p.Ile10817Leu)
c.32248A>C (p.Ile10750Leu)
c.31873A>C (p.Ile10625Leu)
c.59068A>C (p.Ile19690Leu)
c.54145A>C (p.Ile18049Leu)
n.597-4545T>G
n.3364+1737T>G
c.58165A>C (p.Ile19389Leu)
c.32059A>C (p.Ile10687Leu)
c.31918A>C (p.Ile10640Leu)
c.57961A>C (p.Ile19321Leu)
c.53359A>C (p.Ile17787Leu)
c.53356A>C (p.Ile17786Leu)
c.50398A>C (p.Ile16800Leu)
c.32014A>C (p.Ile10672Leu)
c.53509A>C (p.Ile17837Leu)
c.53506A>C (p.Ile17836Leu)
c.52939A>C (p.Ile17647Leu)
c.50281A>C (p.Ile16761Leu)
c.50200A>C (p.Ile16734Leu)
c.31963A>C (p.Ile10655Leu)
c.21817A>C (p.Ile7273Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178593051T=CA1310540316TTN,TTN-AS1c.51364A= (p.Ile17122=)
c.32449A= (p.Ile10817=)
c.32248A= (p.Ile10750=)
c.31873A= (p.Ile10625=)
c.59068A= (p.Ile19690=)
c.54145A= (p.Ile18049=)
n.597-4545T=
n.3364+1737T=
c.58165A= (p.Ile19389=)
c.32059A= (p.Ile10687=)
c.31918A= (p.Ile10640=)
c.57961A= (p.Ile19321=)
c.53359A= (p.Ile17787=)
c.53356A= (p.Ile17786=)
c.50398A= (p.Ile16800=)
c.32014A= (p.Ile10672=)
c.53509A= (p.Ile17837=)
c.53506A= (p.Ile17836=)
c.52939A= (p.Ile17647=)
c.50281A= (p.Ile16761=)
c.50200A= (p.Ile16734=)
c.31963A= (p.Ile10655=)
c.21817A= (p.Ile7273=)
2g.178593052T>ACA430267835TTN,TTN-AS1c.51363A>T (p.Ala17121=)
c.32448A>T (p.Ala10816=)
c.32247A>T (p.Ala10749=)
c.31872A>T (p.Ala10624=)
c.59067A>T (p.Ala19689=)
c.54144A>T (p.Ala18048=)
n.597-4544T>A
n.3364+1738T>A
c.58164A>T (p.Ala19388=)
c.32058A>T (p.Ala10686=)
c.31917A>T (p.Ala10639=)
c.57960A>T (p.Ala19320=)
c.53358A>T (p.Ala17786=)
c.53355A>T (p.Ala17785=)
c.50397A>T (p.Ala16799=)
c.32013A>T (p.Ala10671=)
c.53508A>T (p.Ala17836=)
c.53505A>T (p.Ala17835=)
c.52938A>T (p.Ala17646=)
c.50280A>T (p.Ala16760=)
c.50199A>T (p.Ala16733=)
c.31962A>T (p.Ala10654=)
c.21816A>T (p.Ala7272=)
2g.178593052T>CCA430267836TTN,TTN-AS1c.51363A>G (p.Ala17121=)
c.32448A>G (p.Ala10816=)
c.32247A>G (p.Ala10749=)
c.31872A>G (p.Ala10624=)
c.59067A>G (p.Ala19689=)
c.54144A>G (p.Ala18048=)
n.597-4544T>C
n.3364+1738T>C
c.58164A>G (p.Ala19388=)
c.32058A>G (p.Ala10686=)
c.31917A>G (p.Ala10639=)
c.57960A>G (p.Ala19320=)
c.53358A>G (p.Ala17786=)
c.53355A>G (p.Ala17785=)
c.50397A>G (p.Ala16799=)
c.32013A>G (p.Ala10671=)
c.53508A>G (p.Ala17836=)
c.53505A>G (p.Ala17835=)
c.52938A>G (p.Ala17646=)
c.50280A>G (p.Ala16760=)
c.50199A>G (p.Ala16733=)
c.31962A>G (p.Ala10654=)
c.21816A>G (p.Ala7272=)
2g.178593052T>GCA430267837TTN,TTN-AS1c.51363A>C (p.Ala17121=)
c.32448A>C (p.Ala10816=)
c.32247A>C (p.Ala10749=)
c.31872A>C (p.Ala10624=)
c.59067A>C (p.Ala19689=)
c.54144A>C (p.Ala18048=)
n.597-4544T>G
n.3364+1738T>G
c.58164A>C (p.Ala19388=)
c.32058A>C (p.Ala10686=)
c.31917A>C (p.Ala10639=)
c.57960A>C (p.Ala19320=)
c.53358A>C (p.Ala17786=)
c.53355A>C (p.Ala17785=)
c.50397A>C (p.Ala16799=)
c.32013A>C (p.Ala10671=)
c.53508A>C (p.Ala17836=)
c.53505A>C (p.Ala17835=)
c.52938A>C (p.Ala17646=)
c.50280A>C (p.Ala16760=)
c.50199A>C (p.Ala16733=)
c.31962A>C (p.Ala10654=)
c.21816A>C (p.Ala7272=)
2g.178593053G>ACA349496554TTN,TTN-AS1c.51362C>T (p.Ala17121Val)
c.32447C>T (p.Ala10816Val)
c.32246C>T (p.Ala10749Val)
c.31871C>T (p.Ala10624Val)
c.59066C>T (p.Ala19689Val)
c.54143C>T (p.Ala18048Val)
n.597-4543G>A
n.3364+1739G>A
c.58163C>T (p.Ala19388Val)
c.32057C>T (p.Ala10686Val)
c.31916C>T (p.Ala10639Val)
c.57959C>T (p.Ala19320Val)
c.53357C>T (p.Ala17786Val)
c.53354C>T (p.Ala17785Val)
c.50396C>T (p.Ala16799Val)
c.32012C>T (p.Ala10671Val)
c.53507C>T (p.Ala17836Val)
c.53504C>T (p.Ala17835Val)
c.52937C>T (p.Ala17646Val)
c.50279C>T (p.Ala16760Val)
c.50198C>T (p.Ala16733Val)
c.31961C>T (p.Ala10654Val)
c.21815C>T (p.Ala7272Val)
 gnomAD v4
2g.178593053G>CCA349496557TTN,TTN-AS1c.51362C>G (p.Ala17121Gly)
c.32447C>G (p.Ala10816Gly)
c.32246C>G (p.Ala10749Gly)
c.31871C>G (p.Ala10624Gly)
c.59066C>G (p.Ala19689Gly)
c.54143C>G (p.Ala18048Gly)
n.597-4543G>C
n.3364+1739G>C
c.58163C>G (p.Ala19388Gly)
c.32057C>G (p.Ala10686Gly)
c.31916C>G (p.Ala10639Gly)
c.57959C>G (p.Ala19320Gly)
c.53357C>G (p.Ala17786Gly)
c.53354C>G (p.Ala17785Gly)
c.50396C>G (p.Ala16799Gly)
c.32012C>G (p.Ala10671Gly)
c.53507C>G (p.Ala17836Gly)
c.53504C>G (p.Ala17835Gly)
c.52937C>G (p.Ala17646Gly)
c.50279C>G (p.Ala16760Gly)
c.50198C>G (p.Ala16733Gly)
c.31961C>G (p.Ala10654Gly)
c.21815C>G (p.Ala7272Gly)
2g.178593053G>TCA349496561TTN,TTN-AS1c.51362C>A (p.Ala17121Glu)
c.32447C>A (p.Ala10816Glu)
c.32246C>A (p.Ala10749Glu)
c.31871C>A (p.Ala10624Glu)
c.59066C>A (p.Ala19689Glu)
c.54143C>A (p.Ala18048Glu)
n.597-4543G>T
n.3364+1739G>T
c.58163C>A (p.Ala19388Glu)
c.32057C>A (p.Ala10686Glu)
c.31916C>A (p.Ala10639Glu)
c.57959C>A (p.Ala19320Glu)
c.53357C>A (p.Ala17786Glu)
c.53354C>A (p.Ala17785Glu)
c.50396C>A (p.Ala16799Glu)
c.32012C>A (p.Ala10671Glu)
c.53507C>A (p.Ala17836Glu)
c.53504C>A (p.Ala17835Glu)
c.52937C>A (p.Ala17646Glu)
c.50279C>A (p.Ala16760Glu)
c.50198C>A (p.Ala16733Glu)
c.31961C>A (p.Ala10654Glu)
c.21815C>A (p.Ala7272Glu)
2g.178593054C>ACA349496570TTN,TTN-AS1c.51361G>T (p.Ala17121Ser)
c.32446G>T (p.Ala10816Ser)
c.32245G>T (p.Ala10749Ser)
c.31870G>T (p.Ala10624Ser)
c.59065G>T (p.Ala19689Ser)
c.54142G>T (p.Ala18048Ser)
n.597-4542C>A
n.3364+1740C>A
c.58162G>T (p.Ala19388Ser)
c.32056G>T (p.Ala10686Ser)
c.31915G>T (p.Ala10639Ser)
c.57958G>T (p.Ala19320Ser)
c.53356G>T (p.Ala17786Ser)
c.53353G>T (p.Ala17785Ser)
c.50395G>T (p.Ala16799Ser)
c.32011G>T (p.Ala10671Ser)
c.53506G>T (p.Ala17836Ser)
c.53503G>T (p.Ala17835Ser)
c.52936G>T (p.Ala17646Ser)
c.50278G>T (p.Ala16760Ser)
c.50197G>T (p.Ala16733Ser)
c.31960G>T (p.Ala10654Ser)
c.21814G>T (p.Ala7272Ser)
2g.178593054C>GCA349496563TTN,TTN-AS1c.51361G>C (p.Ala17121Pro)
c.32446G>C (p.Ala10816Pro)
c.32245G>C (p.Ala10749Pro)
c.31870G>C (p.Ala10624Pro)
c.59065G>C (p.Ala19689Pro)
c.54142G>C (p.Ala18048Pro)
n.597-4542C>G
n.3364+1740C>G
c.58162G>C (p.Ala19388Pro)
c.32056G>C (p.Ala10686Pro)
c.31915G>C (p.Ala10639Pro)
c.57958G>C (p.Ala19320Pro)
c.53356G>C (p.Ala17786Pro)
c.53353G>C (p.Ala17785Pro)
c.50395G>C (p.Ala16799Pro)
c.32011G>C (p.Ala10671Pro)
c.53506G>C (p.Ala17836Pro)
c.53503G>C (p.Ala17835Pro)
c.52936G>C (p.Ala17646Pro)
c.50278G>C (p.Ala16760Pro)
c.50197G>C (p.Ala16733Pro)
c.31960G>C (p.Ala10654Pro)
c.21814G>C (p.Ala7272Pro)
2g.178593054C>TCA349496565TTN,TTN-AS1c.51361G>A (p.Ala17121Thr)
c.32446G>A (p.Ala10816Thr)
c.32245G>A (p.Ala10749Thr)
c.31870G>A (p.Ala10624Thr)
c.59065G>A (p.Ala19689Thr)
c.54142G>A (p.Ala18048Thr)
n.597-4542C>T
n.3364+1740C>T
c.58162G>A (p.Ala19388Thr)
c.32056G>A (p.Ala10686Thr)
c.31915G>A (p.Ala10639Thr)
c.57958G>A (p.Ala19320Thr)
c.53356G>A (p.Ala17786Thr)
c.53353G>A (p.Ala17785Thr)
c.50395G>A (p.Ala16799Thr)
c.32011G>A (p.Ala10671Thr)
c.53506G>A (p.Ala17836Thr)
c.53503G>A (p.Ala17835Thr)
c.52936G>A (p.Ala17646Thr)
c.50278G>A (p.Ala16760Thr)
c.50197G>A (p.Ala16733Thr)
c.31960G>A (p.Ala10654Thr)
c.21814G>A (p.Ala7272Thr)
2g.178593055T>ACA349496578TTN,TTN-AS1c.51360A>T (p.Glu17120Asp)
c.32445A>T (p.Glu10815Asp)
c.32244A>T (p.Glu10748Asp)
c.31869A>T (p.Glu10623Asp)
c.59064A>T (p.Glu19688Asp)
c.54141A>T (p.Glu18047Asp)
n.597-4541T>A
n.3364+1741T>A
c.58161A>T (p.Glu19387Asp)
c.32055A>T (p.Glu10685Asp)
c.31914A>T (p.Glu10638Asp)
c.57957A>T (p.Glu19319Asp)
c.53355A>T (p.Glu17785Asp)
c.53352A>T (p.Glu17784Asp)
c.50394A>T (p.Glu16798Asp)
c.32010A>T (p.Glu10670Asp)
c.53505A>T (p.Glu17835Asp)
c.53502A>T (p.Glu17834Asp)
c.52935A>T (p.Glu17645Asp)
c.50277A>T (p.Glu16759Asp)
c.50196A>T (p.Glu16732Asp)
c.31959A>T (p.Glu10653Asp)
c.21813A>T (p.Glu7271Asp)
2g.178593055T>CCA430267842TTN,TTN-AS1c.51360A>G (p.Glu17120=)
c.32445A>G (p.Glu10815=)
c.32244A>G (p.Glu10748=)
c.31869A>G (p.Glu10623=)
c.59064A>G (p.Glu19688=)
c.54141A>G (p.Glu18047=)
n.597-4541T>C
n.3364+1741T>C
c.58161A>G (p.Glu19387=)
c.32055A>G (p.Glu10685=)
c.31914A>G (p.Glu10638=)
c.57957A>G (p.Glu19319=)
c.53355A>G (p.Glu17785=)
c.53352A>G (p.Glu17784=)
c.50394A>G (p.Glu16798=)
c.32010A>G (p.Glu10670=)
c.53505A>G (p.Glu17835=)
c.53502A>G (p.Glu17834=)
c.52935A>G (p.Glu17645=)
c.50277A>G (p.Glu16759=)
c.50196A>G (p.Glu16732=)
c.31959A>G (p.Glu10653=)
c.21813A>G (p.Glu7271=)
2g.178593055T>GCA349496580TTN,TTN-AS1c.51360A>C (p.Glu17120Asp)
c.32445A>C (p.Glu10815Asp)
c.32244A>C (p.Glu10748Asp)
c.31869A>C (p.Glu10623Asp)
c.59064A>C (p.Glu19688Asp)
c.54141A>C (p.Glu18047Asp)
n.597-4541T>G
n.3364+1741T>G
c.58161A>C (p.Glu19387Asp)
c.32055A>C (p.Glu10685Asp)
c.31914A>C (p.Glu10638Asp)
c.57957A>C (p.Glu19319Asp)
c.53355A>C (p.Glu17785Asp)
c.53352A>C (p.Glu17784Asp)
c.50394A>C (p.Glu16798Asp)
c.32010A>C (p.Glu10670Asp)
c.53505A>C (p.Glu17835Asp)
c.53502A>C (p.Glu17834Asp)
c.52935A>C (p.Glu17645Asp)
c.50277A>C (p.Glu16759Asp)
c.50196A>C (p.Glu16732Asp)
c.31959A>C (p.Glu10653Asp)
c.21813A>C (p.Glu7271Asp)
2g.178593056T>ACA349496592TTN,TTN-AS1c.51359A>T (p.Glu17120Val)
c.32444A>T (p.Glu10815Val)
c.32243A>T (p.Glu10748Val)
c.31868A>T (p.Glu10623Val)
c.59063A>T (p.Glu19688Val)
c.54140A>T (p.Glu18047Val)
n.597-4540T>A
n.3364+1742T>A
c.58160A>T (p.Glu19387Val)
c.32054A>T (p.Glu10685Val)
c.31913A>T (p.Glu10638Val)
c.57956A>T (p.Glu19319Val)
c.53354A>T (p.Glu17785Val)
c.53351A>T (p.Glu17784Val)
c.50393A>T (p.Glu16798Val)
c.32009A>T (p.Glu10670Val)
c.53504A>T (p.Glu17835Val)
c.53501A>T (p.Glu17834Val)
c.52934A>T (p.Glu17645Val)
c.50276A>T (p.Glu16759Val)
c.50195A>T (p.Glu16732Val)
c.31958A>T (p.Glu10653Val)
c.21812A>T (p.Glu7271Val)
2g.178593056T>CCA349496599TTN,TTN-AS1c.51359A>G (p.Glu17120Gly)
c.32444A>G (p.Glu10815Gly)
c.32243A>G (p.Glu10748Gly)
c.31868A>G (p.Glu10623Gly)
c.59063A>G (p.Glu19688Gly)
c.54140A>G (p.Glu18047Gly)
n.597-4540T>C
n.3364+1742T>C
c.58160A>G (p.Glu19387Gly)
c.32054A>G (p.Glu10685Gly)
c.31913A>G (p.Glu10638Gly)
c.57956A>G (p.Glu19319Gly)
c.53354A>G (p.Glu17785Gly)
c.53351A>G (p.Glu17784Gly)
c.50393A>G (p.Glu16798Gly)
c.32009A>G (p.Glu10670Gly)
c.53504A>G (p.Glu17835Gly)
c.53501A>G (p.Glu17834Gly)
c.52934A>G (p.Glu17645Gly)
c.50276A>G (p.Glu16759Gly)
c.50195A>G (p.Glu16732Gly)
c.31958A>G (p.Glu10653Gly)
c.21812A>G (p.Glu7271Gly)
2g.178593056T>GCA349496603TTN,TTN-AS1c.51359A>C (p.Glu17120Ala)
c.32444A>C (p.Glu10815Ala)
c.32243A>C (p.Glu10748Ala)
c.31868A>C (p.Glu10623Ala)
c.59063A>C (p.Glu19688Ala)
c.54140A>C (p.Glu18047Ala)
n.597-4540T>G
n.3364+1742T>G
c.58160A>C (p.Glu19387Ala)
c.32054A>C (p.Glu10685Ala)
c.31913A>C (p.Glu10638Ala)
c.57956A>C (p.Glu19319Ala)
c.53354A>C (p.Glu17785Ala)
c.53351A>C (p.Glu17784Ala)
c.50393A>C (p.Glu16798Ala)
c.32009A>C (p.Glu10670Ala)
c.53504A>C (p.Glu17835Ala)
c.53501A>C (p.Glu17834Ala)
c.52934A>C (p.Glu17645Ala)
c.50276A>C (p.Glu16759Ala)
c.50195A>C (p.Glu16732Ala)
c.31958A>C (p.Glu10653Ala)
c.21812A>C (p.Glu7271Ala)
2g.178593057C>ACA349496604TTN,TTN-AS1c.51358G>T (p.Glu17120Ter)
c.32443G>T (p.Glu10815Ter)
c.32242G>T (p.Glu10748Ter)
c.31867G>T (p.Glu10623Ter)
c.59062G>T (p.Glu19688Ter)
c.54139G>T (p.Glu18047Ter)
n.597-4539C>A
n.3364+1743C>A
c.58159G>T (p.Glu19387Ter)
c.32053G>T (p.Glu10685Ter)
c.31912G>T (p.Glu10638Ter)
c.57955G>T (p.Glu19319Ter)
c.53353G>T (p.Glu17785Ter)
c.53350G>T (p.Glu17784Ter)
c.50392G>T (p.Glu16798Ter)
c.32008G>T (p.Glu10670Ter)
c.53503G>T (p.Glu17835Ter)
c.53500G>T (p.Glu17834Ter)
c.52933G>T (p.Glu17645Ter)
c.50275G>T (p.Glu16759Ter)
c.50194G>T (p.Glu16732Ter)
c.31957G>T (p.Glu10653Ter)
c.21811G>T (p.Glu7271Ter)
2g.178593057C>GCA349496605TTN,TTN-AS1c.51358G>C (p.Glu17120Gln)
c.32443G>C (p.Glu10815Gln)
c.32242G>C (p.Glu10748Gln)
c.31867G>C (p.Glu10623Gln)
c.59062G>C (p.Glu19688Gln)
c.54139G>C (p.Glu18047Gln)
n.597-4539C>G
n.3364+1743C>G
c.58159G>C (p.Glu19387Gln)
c.32053G>C (p.Glu10685Gln)
c.31912G>C (p.Glu10638Gln)
c.57955G>C (p.Glu19319Gln)
c.53353G>C (p.Glu17785Gln)
c.53350G>C (p.Glu17784Gln)
c.50392G>C (p.Glu16798Gln)
c.32008G>C (p.Glu10670Gln)
c.53503G>C (p.Glu17835Gln)
c.53500G>C (p.Glu17834Gln)
c.52933G>C (p.Glu17645Gln)
c.50275G>C (p.Glu16759Gln)
c.50194G>C (p.Glu16732Gln)
c.31957G>C (p.Glu10653Gln)
c.21811G>C (p.Glu7271Gln)
 gnomAD v4
2g.178593057C>TCA349496606TTN,TTN-AS1c.51358G>A (p.Glu17120Lys)
c.32443G>A (p.Glu10815Lys)
c.32242G>A (p.Glu10748Lys)
c.31867G>A (p.Glu10623Lys)
c.59062G>A (p.Glu19688Lys)
c.54139G>A (p.Glu18047Lys)
n.597-4539C>T
n.3364+1743C>T
c.58159G>A (p.Glu19387Lys)
c.32053G>A (p.Glu10685Lys)
c.31912G>A (p.Glu10638Lys)
c.57955G>A (p.Glu19319Lys)
c.53353G>A (p.Glu17785Lys)
c.53350G>A (p.Glu17784Lys)
c.50392G>A (p.Glu16798Lys)
c.32008G>A (p.Glu10670Lys)
c.53503G>A (p.Glu17835Lys)
c.53500G>A (p.Glu17834Lys)
c.52933G>A (p.Glu17645Lys)
c.50275G>A (p.Glu16759Lys)
c.50194G>A (p.Glu16732Lys)
c.31957G>A (p.Glu10653Lys)
c.21811G>A (p.Glu7271Lys)
2g.178593058A>CCA430267851TTN,TTN-AS1c.51357T>G (p.Pro17119=)
c.32442T>G (p.Pro10814=)
c.32241T>G (p.Pro10747=)
c.31866T>G (p.Pro10622=)
c.59061T>G (p.Pro19687=)
c.54138T>G (p.Pro18046=)
n.597-4538A>C
n.3364+1744A>C
c.58158T>G (p.Pro19386=)
c.32052T>G (p.Pro10684=)
c.31911T>G (p.Pro10637=)
c.57954T>G (p.Pro19318=)
c.53352T>G (p.Pro17784=)
c.53349T>G (p.Pro17783=)
c.50391T>G (p.Pro16797=)
c.32007T>G (p.Pro10669=)
c.53502T>G (p.Pro17834=)
c.53499T>G (p.Pro17833=)
c.52932T>G (p.Pro17644=)
c.50274T>G (p.Pro16758=)
c.50193T>G (p.Pro16731=)
c.31956T>G (p.Pro10652=)
c.21810T>G (p.Pro7270=)
2g.178593058A>GCA430267852TTN,TTN-AS1c.51357T>C (p.Pro17119=)
c.32442T>C (p.Pro10814=)
c.32241T>C (p.Pro10747=)
c.31866T>C (p.Pro10622=)
c.59061T>C (p.Pro19687=)
c.54138T>C (p.Pro18046=)
n.597-4538A>G
n.3364+1744A>G
c.58158T>C (p.Pro19386=)
c.32052T>C (p.Pro10684=)
c.31911T>C (p.Pro10637=)
c.57954T>C (p.Pro19318=)
c.53352T>C (p.Pro17784=)
c.53349T>C (p.Pro17783=)
c.50391T>C (p.Pro16797=)
c.32007T>C (p.Pro10669=)
c.53502T>C (p.Pro17834=)
c.53499T>C (p.Pro17833=)
c.52932T>C (p.Pro17644=)
c.50274T>C (p.Pro16758=)
c.50193T>C (p.Pro16731=)
c.31956T>C (p.Pro10652=)
c.21810T>C (p.Pro7270=)
2g.178593058A>TCA430267853TTN,TTN-AS1c.51357T>A (p.Pro17119=)
c.32442T>A (p.Pro10814=)
c.32241T>A (p.Pro10747=)
c.31866T>A (p.Pro10622=)
c.59061T>A (p.Pro19687=)
c.54138T>A (p.Pro18046=)
n.597-4538A>T
n.3364+1744A>T
c.58158T>A (p.Pro19386=)
c.32052T>A (p.Pro10684=)
c.31911T>A (p.Pro10637=)
c.57954T>A (p.Pro19318=)
c.53352T>A (p.Pro17784=)
c.53349T>A (p.Pro17783=)
c.50391T>A (p.Pro16797=)
c.32007T>A (p.Pro10669=)
c.53502T>A (p.Pro17834=)
c.53499T>A (p.Pro17833=)
c.52932T>A (p.Pro17644=)
c.50274T>A (p.Pro16758=)
c.50193T>A (p.Pro16731=)
c.31956T>A (p.Pro10652=)
c.21810T>A (p.Pro7270=)
2g.178593059G>ACA349496612TTN,TTN-AS1c.51356C>T (p.Pro17119Leu)
c.32441C>T (p.Pro10814Leu)
c.32240C>T (p.Pro10747Leu)
c.31865C>T (p.Pro10622Leu)
c.59060C>T (p.Pro19687Leu)
c.54137C>T (p.Pro18046Leu)
n.597-4537G>A
n.3364+1745G>A
c.58157C>T (p.Pro19386Leu)
c.32051C>T (p.Pro10684Leu)
c.31910C>T (p.Pro10637Leu)
c.57953C>T (p.Pro19318Leu)
c.53351C>T (p.Pro17784Leu)
c.53348C>T (p.Pro17783Leu)
c.50390C>T (p.Pro16797Leu)
c.32006C>T (p.Pro10669Leu)
c.53501C>T (p.Pro17834Leu)
c.53498C>T (p.Pro17833Leu)
c.52931C>T (p.Pro17644Leu)
c.50273C>T (p.Pro16758Leu)
c.50192C>T (p.Pro16731Leu)
c.31955C>T (p.Pro10652Leu)
c.21809C>T (p.Pro7270Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178593059G>CCA349496618TTN,TTN-AS1c.51356C>G (p.Pro17119Arg)
c.32441C>G (p.Pro10814Arg)
c.32240C>G (p.Pro10747Arg)
c.31865C>G (p.Pro10622Arg)
c.59060C>G (p.Pro19687Arg)
c.54137C>G (p.Pro18046Arg)
n.597-4537G>C
n.3364+1745G>C
c.58157C>G (p.Pro19386Arg)
c.32051C>G (p.Pro10684Arg)
c.31910C>G (p.Pro10637Arg)
c.57953C>G (p.Pro19318Arg)
c.53351C>G (p.Pro17784Arg)
c.53348C>G (p.Pro17783Arg)
c.50390C>G (p.Pro16797Arg)
c.32006C>G (p.Pro10669Arg)
c.53501C>G (p.Pro17834Arg)
c.53498C>G (p.Pro17833Arg)
c.52931C>G (p.Pro17644Arg)
c.50273C>G (p.Pro16758Arg)
c.50192C>G (p.Pro16731Arg)
c.31955C>G (p.Pro10652Arg)
c.21809C>G (p.Pro7270Arg)
2g.178593059G=CA1310540318TTN,TTN-AS1c.51356C= (p.Pro17119=)
c.32441C= (p.Pro10814=)
c.32240C= (p.Pro10747=)
c.31865C= (p.Pro10622=)
c.59060C= (p.Pro19687=)
c.54137C= (p.Pro18046=)
n.597-4537G=
n.3364+1745G=
c.58157C= (p.Pro19386=)
c.32051C= (p.Pro10684=)
c.31910C= (p.Pro10637=)
c.57953C= (p.Pro19318=)
c.53351C= (p.Pro17784=)
c.53348C= (p.Pro17783=)
c.50390C= (p.Pro16797=)
c.32006C= (p.Pro10669=)
c.53501C= (p.Pro17834=)
c.53498C= (p.Pro17833=)
c.52931C= (p.Pro17644=)
c.50273C= (p.Pro16758=)
c.50192C= (p.Pro16731=)
c.31955C= (p.Pro10652=)
c.21809C= (p.Pro7270=)
2g.178593059G>TCA349496623TTN,TTN-AS1c.51356C>A (p.Pro17119His)
c.32441C>A (p.Pro10814His)
c.32240C>A (p.Pro10747His)
c.31865C>A (p.Pro10622His)
c.59060C>A (p.Pro19687His)
c.54137C>A (p.Pro18046His)
n.597-4537G>T
n.3364+1745G>T
c.58157C>A (p.Pro19386His)
c.32051C>A (p.Pro10684His)
c.31910C>A (p.Pro10637His)
c.57953C>A (p.Pro19318His)
c.53351C>A (p.Pro17784His)
c.53348C>A (p.Pro17783His)
c.50390C>A (p.Pro16797His)
c.32006C>A (p.Pro10669His)
c.53501C>A (p.Pro17834His)
c.53498C>A (p.Pro17833His)
c.52931C>A (p.Pro17644His)
c.50273C>A (p.Pro16758His)
c.50192C>A (p.Pro16731His)
c.31955C>A (p.Pro10652His)
c.21809C>A (p.Pro7270His)
2g.178593060G>ACA349496630TTN,TTN-AS1c.51355C>T (p.Pro17119Ser)
c.32440C>T (p.Pro10814Ser)
c.32239C>T (p.Pro10747Ser)
c.31864C>T (p.Pro10622Ser)
c.59059C>T (p.Pro19687Ser)
c.54136C>T (p.Pro18046Ser)
n.597-4536G>A
n.3364+1746G>A
c.58156C>T (p.Pro19386Ser)
c.32050C>T (p.Pro10684Ser)
c.31909C>T (p.Pro10637Ser)
c.57952C>T (p.Pro19318Ser)
c.53350C>T (p.Pro17784Ser)
c.53347C>T (p.Pro17783Ser)
c.50389C>T (p.Pro16797Ser)
c.32005C>T (p.Pro10669Ser)
c.53500C>T (p.Pro17834Ser)
c.53497C>T (p.Pro17833Ser)
c.52930C>T (p.Pro17644Ser)
c.50272C>T (p.Pro16758Ser)
c.50191C>T (p.Pro16731Ser)
c.31954C>T (p.Pro10652Ser)
c.21808C>T (p.Pro7270Ser)
2g.178593060G>CCA349496629TTN,TTN-AS1c.51355C>G (p.Pro17119Ala)
c.32440C>G (p.Pro10814Ala)
c.32239C>G (p.Pro10747Ala)
c.31864C>G (p.Pro10622Ala)
c.59059C>G (p.Pro19687Ala)
c.54136C>G (p.Pro18046Ala)
n.597-4536G>C
n.3364+1746G>C
c.58156C>G (p.Pro19386Ala)
c.32050C>G (p.Pro10684Ala)
c.31909C>G (p.Pro10637Ala)
c.57952C>G (p.Pro19318Ala)
c.53350C>G (p.Pro17784Ala)
c.53347C>G (p.Pro17783Ala)
c.50389C>G (p.Pro16797Ala)
c.32005C>G (p.Pro10669Ala)
c.53500C>G (p.Pro17834Ala)
c.53497C>G (p.Pro17833Ala)
c.52930C>G (p.Pro17644Ala)
c.50272C>G (p.Pro16758Ala)
c.50191C>G (p.Pro16731Ala)
c.31954C>G (p.Pro10652Ala)
c.21808C>G (p.Pro7270Ala)
2g.178593060G>TCA349496628TTN,TTN-AS1c.51355C>A (p.Pro17119Thr)
c.32440C>A (p.Pro10814Thr)
c.32239C>A (p.Pro10747Thr)
c.31864C>A (p.Pro10622Thr)
c.59059C>A (p.Pro19687Thr)
c.54136C>A (p.Pro18046Thr)
n.597-4536G>T
n.3364+1746G>T
c.58156C>A (p.Pro19386Thr)
c.32050C>A (p.Pro10684Thr)
c.31909C>A (p.Pro10637Thr)
c.57952C>A (p.Pro19318Thr)
c.53350C>A (p.Pro17784Thr)
c.53347C>A (p.Pro17783Thr)
c.50389C>A (p.Pro16797Thr)
c.32005C>A (p.Pro10669Thr)
c.53500C>A (p.Pro17834Thr)
c.53497C>A (p.Pro17833Thr)
c.52930C>A (p.Pro17644Thr)
c.50272C>A (p.Pro16758Thr)
c.50191C>A (p.Pro16731Thr)
c.31954C>A (p.Pro10652Thr)
c.21808C>A (p.Pro7270Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178593061A>CCA349496632TTN,TTN-AS1c.51354T>G (p.Asn17118Lys)
c.32439T>G (p.Asn10813Lys)
c.32238T>G (p.Asn10746Lys)
c.31863T>G (p.Asn10621Lys)
c.59058T>G (p.Asn19686Lys)
c.54135T>G (p.Asn18045Lys)
n.597-4535A>C
n.3364+1747A>C
c.58155T>G (p.Asn19385Lys)
c.32049T>G (p.Asn10683Lys)
c.31908T>G (p.Asn10636Lys)
c.57951T>G (p.Asn19317Lys)
c.53349T>G (p.Asn17783Lys)
c.53346T>G (p.Asn17782Lys)
c.50388T>G (p.Asn16796Lys)
c.32004T>G (p.Asn10668Lys)
c.53499T>G (p.Asn17833Lys)
c.53496T>G (p.Asn17832Lys)
c.52929T>G (p.Asn17643Lys)
c.50271T>G (p.Asn16757Lys)
c.50190T>G (p.Asn16730Lys)
c.31953T>G (p.Asn10651Lys)
c.21807T>G (p.Asn7269Lys)
2g.178593061A>GCA430267857TTN,TTN-AS1c.51354T>C (p.Asn17118=)
c.32439T>C (p.Asn10813=)
c.32238T>C (p.Asn10746=)
c.31863T>C (p.Asn10621=)
c.59058T>C (p.Asn19686=)
c.54135T>C (p.Asn18045=)
n.597-4535A>G
n.3364+1747A>G
c.58155T>C (p.Asn19385=)
c.32049T>C (p.Asn10683=)
c.31908T>C (p.Asn10636=)
c.57951T>C (p.Asn19317=)
c.53349T>C (p.Asn17783=)
c.53346T>C (p.Asn17782=)
c.50388T>C (p.Asn16796=)
c.32004T>C (p.Asn10668=)
c.53499T>C (p.Asn17833=)
c.53496T>C (p.Asn17832=)
c.52929T>C (p.Asn17643=)
c.50271T>C (p.Asn16757=)
c.50190T>C (p.Asn16730=)
c.31953T>C (p.Asn10651=)
c.21807T>C (p.Asn7269=)
2g.178593061A>TCA349496635TTN,TTN-AS1c.51354T>A (p.Asn17118Lys)
c.32439T>A (p.Asn10813Lys)
c.32238T>A (p.Asn10746Lys)
c.31863T>A (p.Asn10621Lys)
c.59058T>A (p.Asn19686Lys)
c.54135T>A (p.Asn18045Lys)
n.597-4535A>T
n.3364+1747A>T
c.58155T>A (p.Asn19385Lys)
c.32049T>A (p.Asn10683Lys)
c.31908T>A (p.Asn10636Lys)
c.57951T>A (p.Asn19317Lys)
c.53349T>A (p.Asn17783Lys)
c.53346T>A (p.Asn17782Lys)
c.50388T>A (p.Asn16796Lys)
c.32004T>A (p.Asn10668Lys)
c.53499T>A (p.Asn17833Lys)
c.53496T>A (p.Asn17832Lys)
c.52929T>A (p.Asn17643Lys)
c.50271T>A (p.Asn16757Lys)
c.50190T>A (p.Asn16730Lys)
c.31953T>A (p.Asn10651Lys)
c.21807T>A (p.Asn7269Lys)
2g.178593062T>ACA349496652TTN,TTN-AS1c.51353A>T (p.Asn17118Ile)
c.32438A>T (p.Asn10813Ile)
c.32237A>T (p.Asn10746Ile)
c.31862A>T (p.Asn10621Ile)
c.59057A>T (p.Asn19686Ile)
c.54134A>T (p.Asn18045Ile)
n.597-4534T>A
n.3364+1748T>A
c.58154A>T (p.Asn19385Ile)
c.32048A>T (p.Asn10683Ile)
c.31907A>T (p.Asn10636Ile)
c.57950A>T (p.Asn19317Ile)
c.53348A>T (p.Asn17783Ile)
c.53345A>T (p.Asn17782Ile)
c.50387A>T (p.Asn16796Ile)
c.32003A>T (p.Asn10668Ile)
c.53498A>T (p.Asn17833Ile)
c.53495A>T (p.Asn17832Ile)
c.52928A>T (p.Asn17643Ile)
c.50270A>T (p.Asn16757Ile)
c.50189A>T (p.Asn16730Ile)
c.31952A>T (p.Asn10651Ile)
c.21806A>T (p.Asn7269Ile)
2g.178593062T>CCA349496655TTN,TTN-AS1c.51353A>G (p.Asn17118Ser)
c.32438A>G (p.Asn10813Ser)
c.32237A>G (p.Asn10746Ser)
c.31862A>G (p.Asn10621Ser)
c.59057A>G (p.Asn19686Ser)
c.54134A>G (p.Asn18045Ser)
n.597-4534T>C
n.3364+1748T>C
c.58154A>G (p.Asn19385Ser)
c.32048A>G (p.Asn10683Ser)
c.31907A>G (p.Asn10636Ser)
c.57950A>G (p.Asn19317Ser)
c.53348A>G (p.Asn17783Ser)
c.53345A>G (p.Asn17782Ser)
c.50387A>G (p.Asn16796Ser)
c.32003A>G (p.Asn10668Ser)
c.53498A>G (p.Asn17833Ser)
c.53495A>G (p.Asn17832Ser)
c.52928A>G (p.Asn17643Ser)
c.50270A>G (p.Asn16757Ser)
c.50189A>G (p.Asn16730Ser)
c.31952A>G (p.Asn10651Ser)
c.21806A>G (p.Asn7269Ser)
2g.178593062T>GCA349496657TTN,TTN-AS1c.51353A>C (p.Asn17118Thr)
c.32438A>C (p.Asn10813Thr)
c.32237A>C (p.Asn10746Thr)
c.31862A>C (p.Asn10621Thr)
c.59057A>C (p.Asn19686Thr)
c.54134A>C (p.Asn18045Thr)
n.597-4534T>G
n.3364+1748T>G
c.58154A>C (p.Asn19385Thr)
c.32048A>C (p.Asn10683Thr)
c.31907A>C (p.Asn10636Thr)
c.57950A>C (p.Asn19317Thr)
c.53348A>C (p.Asn17783Thr)
c.53345A>C (p.Asn17782Thr)
c.50387A>C (p.Asn16796Thr)
c.32003A>C (p.Asn10668Thr)
c.53498A>C (p.Asn17833Thr)
c.53495A>C (p.Asn17832Thr)
c.52928A>C (p.Asn17643Thr)
c.50270A>C (p.Asn16757Thr)
c.50189A>C (p.Asn16730Thr)
c.31952A>C (p.Asn10651Thr)
c.21806A>C (p.Asn7269Thr)
2g.178593063T>ACA349496671TTN,TTN-AS1c.51352A>T (p.Asn17118Tyr)
c.32437A>T (p.Asn10813Tyr)
c.32236A>T (p.Asn10746Tyr)
c.31861A>T (p.Asn10621Tyr)
c.59056A>T (p.Asn19686Tyr)
c.54133A>T (p.Asn18045Tyr)
n.597-4533T>A
n.3364+1749T>A
c.58153A>T (p.Asn19385Tyr)
c.32047A>T (p.Asn10683Tyr)
c.31906A>T (p.Asn10636Tyr)
c.57949A>T (p.Asn19317Tyr)
c.53347A>T (p.Asn17783Tyr)
c.53344A>T (p.Asn17782Tyr)
c.50386A>T (p.Asn16796Tyr)
c.32002A>T (p.Asn10668Tyr)
c.53497A>T (p.Asn17833Tyr)
c.53494A>T (p.Asn17832Tyr)
c.52927A>T (p.Asn17643Tyr)
c.50269A>T (p.Asn16757Tyr)
c.50188A>T (p.Asn16730Tyr)
c.31951A>T (p.Asn10651Tyr)
c.21805A>T (p.Asn7269Tyr)
2g.178593063T>CCA349496664TTN,TTN-AS1c.51352A>G (p.Asn17118Asp)
c.32437A>G (p.Asn10813Asp)
c.32236A>G (p.Asn10746Asp)
c.31861A>G (p.Asn10621Asp)
c.59056A>G (p.Asn19686Asp)
c.54133A>G (p.Asn18045Asp)
n.597-4533T>C
n.3364+1749T>C
c.58153A>G (p.Asn19385Asp)
c.32047A>G (p.Asn10683Asp)
c.31906A>G (p.Asn10636Asp)
c.57949A>G (p.Asn19317Asp)
c.53347A>G (p.Asn17783Asp)
c.53344A>G (p.Asn17782Asp)
c.50386A>G (p.Asn16796Asp)
c.32002A>G (p.Asn10668Asp)
c.53497A>G (p.Asn17833Asp)
c.53494A>G (p.Asn17832Asp)
c.52927A>G (p.Asn17643Asp)
c.50269A>G (p.Asn16757Asp)
c.50188A>G (p.Asn16730Asp)
c.31951A>G (p.Asn10651Asp)
c.21805A>G (p.Asn7269Asp)
2g.178593063T>GCA349496661TTN,TTN-AS1c.51352A>C (p.Asn17118His)
c.32437A>C (p.Asn10813His)
c.32236A>C (p.Asn10746His)
c.31861A>C (p.Asn10621His)
c.59056A>C (p.Asn19686His)
c.54133A>C (p.Asn18045His)
n.597-4533T>G
n.3364+1749T>G
c.58153A>C (p.Asn19385His)
c.32047A>C (p.Asn10683His)
c.31906A>C (p.Asn10636His)
c.57949A>C (p.Asn19317His)
c.53347A>C (p.Asn17783His)
c.53344A>C (p.Asn17782His)
c.50386A>C (p.Asn16796His)
c.32002A>C (p.Asn10668His)
c.53497A>C (p.Asn17833His)
c.53494A>C (p.Asn17832His)
c.52927A>C (p.Asn17643His)
c.50269A>C (p.Asn16757His)
c.50188A>C (p.Asn16730His)
c.31951A>C (p.Asn10651His)
c.21805A>C (p.Asn7269His)
2g.178593064A>CCA430267867TTN,TTN-AS1c.51351T>G (p.Val17117=)
c.32436T>G (p.Val10812=)
c.32235T>G (p.Val10745=)
c.31860T>G (p.Val10620=)
c.59055T>G (p.Val19685=)
c.54132T>G (p.Val18044=)
n.597-4532A>C
n.3364+1750A>C
c.58152T>G (p.Val19384=)
c.32046T>G (p.Val10682=)
c.31905T>G (p.Val10635=)
c.57948T>G (p.Val19316=)
c.53346T>G (p.Val17782=)
c.53343T>G (p.Val17781=)
c.50385T>G (p.Val16795=)
c.32001T>G (p.Val10667=)
c.53496T>G (p.Val17832=)
c.53493T>G (p.Val17831=)
c.52926T>G (p.Val17642=)
c.50268T>G (p.Val16756=)
c.50187T>G (p.Val16729=)
c.31950T>G (p.Val10650=)
c.21804T>G (p.Val7268=)
2g.178593064A>GCA430267866TTN,TTN-AS1c.51351T>C (p.Val17117=)
c.32436T>C (p.Val10812=)
c.32235T>C (p.Val10745=)
c.31860T>C (p.Val10620=)
c.59055T>C (p.Val19685=)
c.54132T>C (p.Val18044=)
n.597-4532A>G
n.3364+1750A>G
c.58152T>C (p.Val19384=)
c.32046T>C (p.Val10682=)
c.31905T>C (p.Val10635=)
c.57948T>C (p.Val19316=)
c.53346T>C (p.Val17782=)
c.53343T>C (p.Val17781=)
c.50385T>C (p.Val16795=)
c.32001T>C (p.Val10667=)
c.53496T>C (p.Val17832=)
c.53493T>C (p.Val17831=)
c.52926T>C (p.Val17642=)
c.50268T>C (p.Val16756=)
c.50187T>C (p.Val16729=)
c.31950T>C (p.Val10650=)
c.21804T>C (p.Val7268=)
2g.178593064A>TCA430267865TTN,TTN-AS1c.51351T>A (p.Val17117=)
c.32436T>A (p.Val10812=)
c.32235T>A (p.Val10745=)
c.31860T>A (p.Val10620=)
c.59055T>A (p.Val19685=)
c.54132T>A (p.Val18044=)
n.597-4532A>T
n.3364+1750A>T
c.58152T>A (p.Val19384=)
c.32046T>A (p.Val10682=)
c.31905T>A (p.Val10635=)
c.57948T>A (p.Val19316=)
c.53346T>A (p.Val17782=)
c.53343T>A (p.Val17781=)
c.50385T>A (p.Val16795=)
c.32001T>A (p.Val10667=)
c.53496T>A (p.Val17832=)
c.53493T>A (p.Val17831=)
c.52926T>A (p.Val17642=)
c.50268T>A (p.Val16756=)
c.50187T>A (p.Val16729=)
c.31950T>A (p.Val10650=)
c.21804T>A (p.Val7268=)
2g.178593065A>CCA349496677TTN,TTN-AS1c.51350T>G (p.Val17117Gly)
c.32435T>G (p.Val10812Gly)
c.32234T>G (p.Val10745Gly)
c.31859T>G (p.Val10620Gly)
c.59054T>G (p.Val19685Gly)
c.54131T>G (p.Val18044Gly)
n.597-4531A>C
n.3364+1751A>C
c.58151T>G (p.Val19384Gly)
c.32045T>G (p.Val10682Gly)
c.31904T>G (p.Val10635Gly)
c.57947T>G (p.Val19316Gly)
c.53345T>G (p.Val17782Gly)
c.53342T>G (p.Val17781Gly)
c.50384T>G (p.Val16795Gly)
c.32000T>G (p.Val10667Gly)
c.53495T>G (p.Val17832Gly)
c.53492T>G (p.Val17831Gly)
c.52925T>G (p.Val17642Gly)
c.50267T>G (p.Val16756Gly)
c.50186T>G (p.Val16729Gly)
c.31949T>G (p.Val10650Gly)
c.21803T>G (p.Val7268Gly)
2g.178593065A>GCA349496680TTN,TTN-AS1c.51350T>C (p.Val17117Ala)
c.32435T>C (p.Val10812Ala)
c.32234T>C (p.Val10745Ala)
c.31859T>C (p.Val10620Ala)
c.59054T>C (p.Val19685Ala)
c.54131T>C (p.Val18044Ala)
n.597-4531A>G
n.3364+1751A>G
c.58151T>C (p.Val19384Ala)
c.32045T>C (p.Val10682Ala)
c.31904T>C (p.Val10635Ala)
c.57947T>C (p.Val19316Ala)
c.53345T>C (p.Val17782Ala)
c.53342T>C (p.Val17781Ala)
c.50384T>C (p.Val16795Ala)
c.32000T>C (p.Val10667Ala)
c.53495T>C (p.Val17832Ala)
c.53492T>C (p.Val17831Ala)
c.52925T>C (p.Val17642Ala)
c.50267T>C (p.Val16756Ala)
c.50186T>C (p.Val16729Ala)
c.31949T>C (p.Val10650Ala)
c.21803T>C (p.Val7268Ala)
2g.178593065A>TCA349496687TTN,TTN-AS1c.51350T>A (p.Val17117Asp)
c.32435T>A (p.Val10812Asp)
c.32234T>A (p.Val10745Asp)
c.31859T>A (p.Val10620Asp)
c.59054T>A (p.Val19685Asp)
c.54131T>A (p.Val18044Asp)
n.597-4531A>T
n.3364+1751A>T
c.58151T>A (p.Val19384Asp)
c.32045T>A (p.Val10682Asp)
c.31904T>A (p.Val10635Asp)
c.57947T>A (p.Val19316Asp)
c.53345T>A (p.Val17782Asp)
c.53342T>A (p.Val17781Asp)
c.50384T>A (p.Val16795Asp)
c.32000T>A (p.Val10667Asp)
c.53495T>A (p.Val17832Asp)
c.53492T>A (p.Val17831Asp)
c.52925T>A (p.Val17642Asp)
c.50267T>A (p.Val16756Asp)
c.50186T>A (p.Val16729Asp)
c.31949T>A (p.Val10650Asp)
c.21803T>A (p.Val7268Asp)
2g.178593066C>ACA349496693TTN,TTN-AS1c.51349G>T (p.Val17117Phe)
c.32434G>T (p.Val10812Phe)
c.32233G>T (p.Val10745Phe)
c.31858G>T (p.Val10620Phe)
c.59053G>T (p.Val19685Phe)
c.54130G>T (p.Val18044Phe)
n.597-4530C>A
n.3364+1752C>A
c.58150G>T (p.Val19384Phe)
c.32044G>T (p.Val10682Phe)
c.31903G>T (p.Val10635Phe)
c.57946G>T (p.Val19316Phe)
c.53344G>T (p.Val17782Phe)
c.53341G>T (p.Val17781Phe)
c.50383G>T (p.Val16795Phe)
c.31999G>T (p.Val10667Phe)
c.53494G>T (p.Val17832Phe)
c.53491G>T (p.Val17831Phe)
c.52924G>T (p.Val17642Phe)
c.50266G>T (p.Val16756Phe)
c.50185G>T (p.Val16729Phe)
c.31948G>T (p.Val10650Phe)
c.21802G>T (p.Val7268Phe)
2g.178593066C>GCA349496701TTN,TTN-AS1c.51349G>C (p.Val17117Leu)
c.32434G>C (p.Val10812Leu)
c.32233G>C (p.Val10745Leu)
c.31858G>C (p.Val10620Leu)
c.59053G>C (p.Val19685Leu)
c.54130G>C (p.Val18044Leu)
n.597-4530C>G
n.3364+1752C>G
c.58150G>C (p.Val19384Leu)
c.32044G>C (p.Val10682Leu)
c.31903G>C (p.Val10635Leu)
c.57946G>C (p.Val19316Leu)
c.53344G>C (p.Val17782Leu)
c.53341G>C (p.Val17781Leu)
c.50383G>C (p.Val16795Leu)
c.31999G>C (p.Val10667Leu)
c.53494G>C (p.Val17832Leu)
c.53491G>C (p.Val17831Leu)
c.52924G>C (p.Val17642Leu)
c.50266G>C (p.Val16756Leu)
c.50185G>C (p.Val16729Leu)
c.31948G>C (p.Val10650Leu)
c.21802G>C (p.Val7268Leu)
2g.178593066C>TCA349496706TTN,TTN-AS1c.51349G>A (p.Val17117Ile)
c.32434G>A (p.Val10812Ile)
c.32233G>A (p.Val10745Ile)
c.31858G>A (p.Val10620Ile)
c.59053G>A (p.Val19685Ile)
c.54130G>A (p.Val18044Ile)
n.597-4530C>T
n.3364+1752C>T
c.58150G>A (p.Val19384Ile)
c.32044G>A (p.Val10682Ile)
c.31903G>A (p.Val10635Ile)
c.57946G>A (p.Val19316Ile)
c.53344G>A (p.Val17782Ile)
c.53341G>A (p.Val17781Ile)
c.50383G>A (p.Val16795Ile)
c.31999G>A (p.Val10667Ile)
c.53494G>A (p.Val17832Ile)
c.53491G>A (p.Val17831Ile)
c.52924G>A (p.Val17642Ile)
c.50266G>A (p.Val16756Ile)
c.50185G>A (p.Val16729Ile)
c.31948G>A (p.Val10650Ile)
c.21802G>A (p.Val7268Ile)
2g.178593067A>CCA430267868TTN,TTN-AS1c.51348T>G (p.Pro17116=)
c.32433T>G (p.Pro10811=)
c.32232T>G (p.Pro10744=)
c.31857T>G (p.Pro10619=)
c.59052T>G (p.Pro19684=)
c.54129T>G (p.Pro18043=)
n.597-4529A>C
n.3364+1753A>C
c.58149T>G (p.Pro19383=)
c.32043T>G (p.Pro10681=)
c.31902T>G (p.Pro10634=)
c.57945T>G (p.Pro19315=)
c.53343T>G (p.Pro17781=)
c.53340T>G (p.Pro17780=)
c.50382T>G (p.Pro16794=)
c.31998T>G (p.Pro10666=)
c.53493T>G (p.Pro17831=)
c.53490T>G (p.Pro17830=)
c.52923T>G (p.Pro17641=)
c.50265T>G (p.Pro16755=)
c.50184T>G (p.Pro16728=)
c.31947T>G (p.Pro10649=)
c.21801T>G (p.Pro7267=)
2g.178593067A>GCA430267869TTN,TTN-AS1c.51348T>C (p.Pro17116=)
c.32433T>C (p.Pro10811=)
c.32232T>C (p.Pro10744=)
c.31857T>C (p.Pro10619=)
c.59052T>C (p.Pro19684=)
c.54129T>C (p.Pro18043=)
n.597-4529A>G
n.3364+1753A>G
c.58149T>C (p.Pro19383=)
c.32043T>C (p.Pro10681=)
c.31902T>C (p.Pro10634=)
c.57945T>C (p.Pro19315=)
c.53343T>C (p.Pro17781=)
c.53340T>C (p.Pro17780=)
c.50382T>C (p.Pro16794=)
c.31998T>C (p.Pro10666=)
c.53493T>C (p.Pro17831=)
c.53490T>C (p.Pro17830=)
c.52923T>C (p.Pro17641=)
c.50265T>C (p.Pro16755=)
c.50184T>C (p.Pro16728=)
c.31947T>C (p.Pro10649=)
c.21801T>C (p.Pro7267=)
 gnomAD v4
2g.178593067A>TCA430267870TTN,TTN-AS1c.51348T>A (p.Pro17116=)
c.32433T>A (p.Pro10811=)
c.32232T>A (p.Pro10744=)
c.31857T>A (p.Pro10619=)
c.59052T>A (p.Pro19684=)
c.54129T>A (p.Pro18043=)
n.597-4529A>T
n.3364+1753A>T
c.58149T>A (p.Pro19383=)
c.32043T>A (p.Pro10681=)
c.31902T>A (p.Pro10634=)
c.57945T>A (p.Pro19315=)
c.53343T>A (p.Pro17781=)
c.53340T>A (p.Pro17780=)
c.50382T>A (p.Pro16794=)
c.31998T>A (p.Pro10666=)
c.53493T>A (p.Pro17831=)
c.53490T>A (p.Pro17830=)
c.52923T>A (p.Pro17641=)
c.50265T>A (p.Pro16755=)
c.50184T>A (p.Pro16728=)
c.31947T>A (p.Pro10649=)
c.21801T>A (p.Pro7267=)
2g.178593068G>ACA349496708TTN,TTN-AS1c.51347C>T (p.Pro17116Leu)
c.32432C>T (p.Pro10811Leu)
c.32231C>T (p.Pro10744Leu)
c.31856C>T (p.Pro10619Leu)
c.59051C>T (p.Pro19684Leu)
c.54128C>T (p.Pro18043Leu)
n.597-4528G>A
n.3364+1754G>A
c.58148C>T (p.Pro19383Leu)
c.32042C>T (p.Pro10681Leu)
c.31901C>T (p.Pro10634Leu)
c.57944C>T (p.Pro19315Leu)
c.53342C>T (p.Pro17781Leu)
c.53339C>T (p.Pro17780Leu)
c.50381C>T (p.Pro16794Leu)
c.31997C>T (p.Pro10666Leu)
c.53492C>T (p.Pro17831Leu)
c.53489C>T (p.Pro17830Leu)
c.52922C>T (p.Pro17641Leu)
c.50264C>T (p.Pro16755Leu)
c.50183C>T (p.Pro16728Leu)
c.31946C>T (p.Pro10649Leu)
c.21800C>T (p.Pro7267Leu)
2g.178593068G>CCA349496711TTN,TTN-AS1c.51347C>G (p.Pro17116Arg)
c.32432C>G (p.Pro10811Arg)
c.32231C>G (p.Pro10744Arg)
c.31856C>G (p.Pro10619Arg)
c.59051C>G (p.Pro19684Arg)
c.54128C>G (p.Pro18043Arg)
n.597-4528G>C
n.3364+1754G>C
c.58148C>G (p.Pro19383Arg)
c.32042C>G (p.Pro10681Arg)
c.31901C>G (p.Pro10634Arg)
c.57944C>G (p.Pro19315Arg)
c.53342C>G (p.Pro17781Arg)
c.53339C>G (p.Pro17780Arg)
c.50381C>G (p.Pro16794Arg)
c.31997C>G (p.Pro10666Arg)
c.53492C>G (p.Pro17831Arg)
c.53489C>G (p.Pro17830Arg)
c.52922C>G (p.Pro17641Arg)
c.50264C>G (p.Pro16755Arg)
c.50183C>G (p.Pro16728Arg)
c.31946C>G (p.Pro10649Arg)
c.21800C>G (p.Pro7267Arg)
2g.178593068G>TCA349496709TTN,TTN-AS1c.51347C>A (p.Pro17116His)
c.32432C>A (p.Pro10811His)
c.32231C>A (p.Pro10744His)
c.31856C>A (p.Pro10619His)
c.59051C>A (p.Pro19684His)
c.54128C>A (p.Pro18043His)
n.597-4528G>T
n.3364+1754G>T
c.58148C>A (p.Pro19383His)
c.32042C>A (p.Pro10681His)
c.31901C>A (p.Pro10634His)
c.57944C>A (p.Pro19315His)
c.53342C>A (p.Pro17781His)
c.53339C>A (p.Pro17780His)
c.50381C>A (p.Pro16794His)
c.31997C>A (p.Pro10666His)
c.53492C>A (p.Pro17831His)
c.53489C>A (p.Pro17830His)
c.52922C>A (p.Pro17641His)
c.50264C>A (p.Pro16755His)
c.50183C>A (p.Pro16728His)
c.31946C>A (p.Pro10649His)
c.21800C>A (p.Pro7267His)
 gnomAD v4
2g.178593069G>ACA1992722TTN,TTN-AS1c.51346C>T (p.Pro17116Ser)
c.32431C>T (p.Pro10811Ser)
c.32230C>T (p.Pro10744Ser)
c.31855C>T (p.Pro10619Ser)
c.59050C>T (p.Pro19684Ser)
c.54127C>T (p.Pro18043Ser)
n.597-4527G>A
n.3364+1755G>A
c.58147C>T (p.Pro19383Ser)
c.32041C>T (p.Pro10681Ser)
c.31900C>T (p.Pro10634Ser)
c.57943C>T (p.Pro19315Ser)
c.53341C>T (p.Pro17781Ser)
c.53338C>T (p.Pro17780Ser)
c.50380C>T (p.Pro16794Ser)
c.31996C>T (p.Pro10666Ser)
c.53491C>T (p.Pro17831Ser)
c.53488C>T (p.Pro17830Ser)
c.52921C>T (p.Pro17641Ser)
c.50263C>T (p.Pro16755Ser)
c.50182C>T (p.Pro16728Ser)
c.31945C>T (p.Pro10649Ser)
c.21799C>T (p.Pro7267Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593069G>CCA349496718TTN,TTN-AS1c.51346C>G (p.Pro17116Ala)
c.32431C>G (p.Pro10811Ala)
c.32230C>G (p.Pro10744Ala)
c.31855C>G (p.Pro10619Ala)
c.59050C>G (p.Pro19684Ala)
c.54127C>G (p.Pro18043Ala)
n.597-4527G>C
n.3364+1755G>C
c.58147C>G (p.Pro19383Ala)
c.32041C>G (p.Pro10681Ala)
c.31900C>G (p.Pro10634Ala)
c.57943C>G (p.Pro19315Ala)
c.53341C>G (p.Pro17781Ala)
c.53338C>G (p.Pro17780Ala)
c.50380C>G (p.Pro16794Ala)
c.31996C>G (p.Pro10666Ala)
c.53491C>G (p.Pro17831Ala)
c.53488C>G (p.Pro17830Ala)
c.52921C>G (p.Pro17641Ala)
c.50263C>G (p.Pro16755Ala)
c.50182C>G (p.Pro16728Ala)
c.31945C>G (p.Pro10649Ala)
c.21799C>G (p.Pro7267Ala)
2g.178593069G=CA1310540320TTN,TTN-AS1c.51346C= (p.Pro17116=)
c.32431C= (p.Pro10811=)
c.32230C= (p.Pro10744=)
c.31855C= (p.Pro10619=)
c.59050C= (p.Pro19684=)
c.54127C= (p.Pro18043=)
n.597-4527G=
n.3364+1755G=
c.58147C= (p.Pro19383=)
c.32041C= (p.Pro10681=)
c.31900C= (p.Pro10634=)
c.57943C= (p.Pro19315=)
c.53341C= (p.Pro17781=)
c.53338C= (p.Pro17780=)
c.50380C= (p.Pro16794=)
c.31996C= (p.Pro10666=)
c.53491C= (p.Pro17831=)
c.53488C= (p.Pro17830=)
c.52921C= (p.Pro17641=)
c.50263C= (p.Pro16755=)
c.50182C= (p.Pro16728=)
c.31945C= (p.Pro10649=)
c.21799C= (p.Pro7267=)
2g.178593069G>TCA349496720TTN,TTN-AS1c.51346C>A (p.Pro17116Thr)
c.32431C>A (p.Pro10811Thr)
c.32230C>A (p.Pro10744Thr)
c.31855C>A (p.Pro10619Thr)
c.59050C>A (p.Pro19684Thr)
c.54127C>A (p.Pro18043Thr)
n.597-4527G>T
n.3364+1755G>T
c.58147C>A (p.Pro19383Thr)
c.32041C>A (p.Pro10681Thr)
c.31900C>A (p.Pro10634Thr)
c.57943C>A (p.Pro19315Thr)
c.53341C>A (p.Pro17781Thr)
c.53338C>A (p.Pro17780Thr)
c.50380C>A (p.Pro16794Thr)
c.31996C>A (p.Pro10666Thr)
c.53491C>A (p.Pro17831Thr)
c.53488C>A (p.Pro17830Thr)
c.52921C>A (p.Pro17641Thr)
c.50263C>A (p.Pro16755Thr)
c.50182C>A (p.Pro16728Thr)
c.31945C>A (p.Pro10649Thr)
c.21799C>A (p.Pro7267Thr)
2g.178593070T>ACA430267871TTN,TTN-AS1c.51345A>T (p.Pro17115=)
c.32430A>T (p.Pro10810=)
c.32229A>T (p.Pro10743=)
c.31854A>T (p.Pro10618=)
c.59049A>T (p.Pro19683=)
c.54126A>T (p.Pro18042=)
n.597-4526T>A
n.3364+1756T>A
c.58146A>T (p.Pro19382=)
c.32040A>T (p.Pro10680=)
c.31899A>T (p.Pro10633=)
c.57942A>T (p.Pro19314=)
c.53340A>T (p.Pro17780=)
c.53337A>T (p.Pro17779=)
c.50379A>T (p.Pro16793=)
c.31995A>T (p.Pro10665=)
c.53490A>T (p.Pro17830=)
c.53487A>T (p.Pro17829=)
c.52920A>T (p.Pro17640=)
c.50262A>T (p.Pro16754=)
c.50181A>T (p.Pro16727=)
c.31944A>T (p.Pro10648=)
c.21798A>T (p.Pro7266=)
 dbSNP gnomAD v2 gnomAD v4
2g.178593070T>CCA430267872TTN,TTN-AS1c.51345A>G (p.Pro17115=)
c.32430A>G (p.Pro10810=)
c.32229A>G (p.Pro10743=)
c.31854A>G (p.Pro10618=)
c.59049A>G (p.Pro19683=)
c.54126A>G (p.Pro18042=)
n.597-4526T>C
n.3364+1756T>C
c.58146A>G (p.Pro19382=)
c.32040A>G (p.Pro10680=)
c.31899A>G (p.Pro10633=)
c.57942A>G (p.Pro19314=)
c.53340A>G (p.Pro17780=)
c.53337A>G (p.Pro17779=)
c.50379A>G (p.Pro16793=)
c.31995A>G (p.Pro10665=)
c.53490A>G (p.Pro17830=)
c.53487A>G (p.Pro17829=)
c.52920A>G (p.Pro17640=)
c.50262A>G (p.Pro16754=)
c.50181A>G (p.Pro16727=)
c.31944A>G (p.Pro10648=)
c.21798A>G (p.Pro7266=)
2g.178593070T>GCA430267873TTN,TTN-AS1c.51345A>C (p.Pro17115=)
c.32430A>C (p.Pro10810=)
c.32229A>C (p.Pro10743=)
c.31854A>C (p.Pro10618=)
c.59049A>C (p.Pro19683=)
c.54126A>C (p.Pro18042=)
n.597-4526T>G
n.3364+1756T>G
c.58146A>C (p.Pro19382=)
c.32040A>C (p.Pro10680=)
c.31899A>C (p.Pro10633=)
c.57942A>C (p.Pro19314=)
c.53340A>C (p.Pro17780=)
c.53337A>C (p.Pro17779=)
c.50379A>C (p.Pro16793=)
c.31995A>C (p.Pro10665=)
c.53490A>C (p.Pro17830=)
c.53487A>C (p.Pro17829=)
c.52920A>C (p.Pro17640=)
c.50262A>C (p.Pro16754=)
c.50181A>C (p.Pro16727=)
c.31944A>C (p.Pro10648=)
c.21798A>C (p.Pro7266=)
2g.178593070T=CA1310540322TTN,TTN-AS1c.51345A= (p.Pro17115=)
c.32430A= (p.Pro10810=)
c.32229A= (p.Pro10743=)
c.31854A= (p.Pro10618=)
c.59049A= (p.Pro19683=)
c.54126A= (p.Pro18042=)
n.597-4526T=
n.3364+1756T=
c.58146A= (p.Pro19382=)
c.32040A= (p.Pro10680=)
c.31899A= (p.Pro10633=)
c.57942A= (p.Pro19314=)
c.53340A= (p.Pro17780=)
c.53337A= (p.Pro17779=)
c.50379A= (p.Pro16793=)
c.31995A= (p.Pro10665=)
c.53490A= (p.Pro17830=)
c.53487A= (p.Pro17829=)
c.52920A= (p.Pro17640=)
c.50262A= (p.Pro16754=)
c.50181A= (p.Pro16727=)
c.31944A= (p.Pro10648=)
c.21798A= (p.Pro7266=)
2g.178593071G>ACA349496725TTN,TTN-AS1c.51344C>T (p.Pro17115Leu)
c.32429C>T (p.Pro10810Leu)
c.32228C>T (p.Pro10743Leu)
c.31853C>T (p.Pro10618Leu)
c.59048C>T (p.Pro19683Leu)
c.54125C>T (p.Pro18042Leu)
n.597-4525G>A
n.3364+1757G>A
c.58145C>T (p.Pro19382Leu)
c.32039C>T (p.Pro10680Leu)
c.31898C>T (p.Pro10633Leu)
c.57941C>T (p.Pro19314Leu)
c.53339C>T (p.Pro17780Leu)
c.53336C>T (p.Pro17779Leu)
c.50378C>T (p.Pro16793Leu)
c.31994C>T (p.Pro10665Leu)
c.53489C>T (p.Pro17830Leu)
c.53486C>T (p.Pro17829Leu)
c.52919C>T (p.Pro17640Leu)
c.50261C>T (p.Pro16754Leu)
c.50180C>T (p.Pro16727Leu)
c.31943C>T (p.Pro10648Leu)
c.21797C>T (p.Pro7266Leu)
2g.178593071G>CCA1992723TTN,TTN-AS1c.51344C>G (p.Pro17115Arg)
c.32429C>G (p.Pro10810Arg)
c.32228C>G (p.Pro10743Arg)
c.31853C>G (p.Pro10618Arg)
c.59048C>G (p.Pro19683Arg)
c.54125C>G (p.Pro18042Arg)
n.597-4525G>C
n.3364+1757G>C
c.58145C>G (p.Pro19382Arg)
c.32039C>G (p.Pro10680Arg)
c.31898C>G (p.Pro10633Arg)
c.57941C>G (p.Pro19314Arg)
c.53339C>G (p.Pro17780Arg)
c.53336C>G (p.Pro17779Arg)
c.50378C>G (p.Pro16793Arg)
c.31994C>G (p.Pro10665Arg)
c.53489C>G (p.Pro17830Arg)
c.53486C>G (p.Pro17829Arg)
c.52919C>G (p.Pro17640Arg)
c.50261C>G (p.Pro16754Arg)
c.50180C>G (p.Pro16727Arg)
c.31943C>G (p.Pro10648Arg)
c.21797C>G (p.Pro7266Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593071G=CA1310540324TTN,TTN-AS1c.51344C= (p.Pro17115=)
c.32429C= (p.Pro10810=)
c.32228C= (p.Pro10743=)
c.31853C= (p.Pro10618=)
c.59048C= (p.Pro19683=)
c.54125C= (p.Pro18042=)
n.597-4525G=
n.3364+1757G=
c.58145C= (p.Pro19382=)
c.32039C= (p.Pro10680=)
c.31898C= (p.Pro10633=)
c.57941C= (p.Pro19314=)
c.53339C= (p.Pro17780=)
c.53336C= (p.Pro17779=)
c.50378C= (p.Pro16793=)
c.31994C= (p.Pro10665=)
c.53489C= (p.Pro17830=)
c.53486C= (p.Pro17829=)
c.52919C= (p.Pro17640=)
c.50261C= (p.Pro16754=)
c.50180C= (p.Pro16727=)
c.31943C= (p.Pro10648=)
c.21797C= (p.Pro7266=)
2g.178593071G>TCA349496732TTN,TTN-AS1c.51344C>A (p.Pro17115Gln)
c.32429C>A (p.Pro10810Gln)
c.32228C>A (p.Pro10743Gln)
c.31853C>A (p.Pro10618Gln)
c.59048C>A (p.Pro19683Gln)
c.54125C>A (p.Pro18042Gln)
n.597-4525G>T
n.3364+1757G>T
c.58145C>A (p.Pro19382Gln)
c.32039C>A (p.Pro10680Gln)
c.31898C>A (p.Pro10633Gln)
c.57941C>A (p.Pro19314Gln)
c.53339C>A (p.Pro17780Gln)
c.53336C>A (p.Pro17779Gln)
c.50378C>A (p.Pro16793Gln)
c.31994C>A (p.Pro10665Gln)
c.53489C>A (p.Pro17830Gln)
c.53486C>A (p.Pro17829Gln)
c.52919C>A (p.Pro17640Gln)
c.50261C>A (p.Pro16754Gln)
c.50180C>A (p.Pro16727Gln)
c.31943C>A (p.Pro10648Gln)
c.21797C>A (p.Pro7266Gln)
2g.178593072G>ACA349496739TTN,TTN-AS1c.51343C>T (p.Pro17115Ser)
c.32428C>T (p.Pro10810Ser)
c.32227C>T (p.Pro10743Ser)
c.31852C>T (p.Pro10618Ser)
c.59047C>T (p.Pro19683Ser)
c.54124C>T (p.Pro18042Ser)
n.597-4524G>A
n.3364+1758G>A
c.58144C>T (p.Pro19382Ser)
c.32038C>T (p.Pro10680Ser)
c.31897C>T (p.Pro10633Ser)
c.57940C>T (p.Pro19314Ser)
c.53338C>T (p.Pro17780Ser)
c.53335C>T (p.Pro17779Ser)
c.50377C>T (p.Pro16793Ser)
c.31993C>T (p.Pro10665Ser)
c.53488C>T (p.Pro17830Ser)
c.53485C>T (p.Pro17829Ser)
c.52918C>T (p.Pro17640Ser)
c.50260C>T (p.Pro16754Ser)
c.50179C>T (p.Pro16727Ser)
c.31942C>T (p.Pro10648Ser)
c.21796C>T (p.Pro7266Ser)
2g.178593072G>CCA349496744TTN,TTN-AS1c.51343C>G (p.Pro17115Ala)
c.32428C>G (p.Pro10810Ala)
c.32227C>G (p.Pro10743Ala)
c.31852C>G (p.Pro10618Ala)
c.59047C>G (p.Pro19683Ala)
c.54124C>G (p.Pro18042Ala)
n.597-4524G>C
n.3364+1758G>C
c.58144C>G (p.Pro19382Ala)
c.32038C>G (p.Pro10680Ala)
c.31897C>G (p.Pro10633Ala)
c.57940C>G (p.Pro19314Ala)
c.53338C>G (p.Pro17780Ala)
c.53335C>G (p.Pro17779Ala)
c.50377C>G (p.Pro16793Ala)
c.31993C>G (p.Pro10665Ala)
c.53488C>G (p.Pro17830Ala)
c.53485C>G (p.Pro17829Ala)
c.52918C>G (p.Pro17640Ala)
c.50260C>G (p.Pro16754Ala)
c.50179C>G (p.Pro16727Ala)
c.31942C>G (p.Pro10648Ala)
c.21796C>G (p.Pro7266Ala)
2g.178593072G>TCA349496747TTN,TTN-AS1c.51343C>A (p.Pro17115Thr)
c.32428C>A (p.Pro10810Thr)
c.32227C>A (p.Pro10743Thr)
c.31852C>A (p.Pro10618Thr)
c.59047C>A (p.Pro19683Thr)
c.54124C>A (p.Pro18042Thr)
n.597-4524G>T
n.3364+1758G>T
c.58144C>A (p.Pro19382Thr)
c.32038C>A (p.Pro10680Thr)
c.31897C>A (p.Pro10633Thr)
c.57940C>A (p.Pro19314Thr)
c.53338C>A (p.Pro17780Thr)
c.53335C>A (p.Pro17779Thr)
c.50377C>A (p.Pro16793Thr)
c.31993C>A (p.Pro10665Thr)
c.53488C>A (p.Pro17830Thr)
c.53485C>A (p.Pro17829Thr)
c.52918C>A (p.Pro17640Thr)
c.50260C>A (p.Pro16754Thr)
c.50179C>A (p.Pro16727Thr)
c.31942C>A (p.Pro10648Thr)
c.21796C>A (p.Pro7266Thr)
2g.178593073A=CA1310540326TTN,TTN-AS1c.51342T= (p.Ser17114=)
c.32427T= (p.Ser10809=)
c.32226T= (p.Ser10742=)
c.31851T= (p.Ser10617=)
c.59046T= (p.Ser19682=)
c.54123T= (p.Ser18041=)
n.597-4523A=
n.3364+1759A=
c.58143T= (p.Ser19381=)
c.32037T= (p.Ser10679=)
c.31896T= (p.Ser10632=)
c.57939T= (p.Ser19313=)
c.53337T= (p.Ser17779=)
c.53334T= (p.Ser17778=)
c.50376T= (p.Ser16792=)
c.31992T= (p.Ser10664=)
c.53487T= (p.Ser17829=)
c.53484T= (p.Ser17828=)
c.52917T= (p.Ser17639=)
c.50259T= (p.Ser16753=)
c.50178T= (p.Ser16726=)
c.31941T= (p.Ser10647=)
c.21795T= (p.Ser7265=)
2g.178593073A>CCA349496770TTN,TTN-AS1c.51342T>G (p.Ser17114Arg)
c.32427T>G (p.Ser10809Arg)
c.32226T>G (p.Ser10742Arg)
c.31851T>G (p.Ser10617Arg)
c.59046T>G (p.Ser19682Arg)
c.54123T>G (p.Ser18041Arg)
n.597-4523A>C
n.3364+1759A>C
c.58143T>G (p.Ser19381Arg)
c.32037T>G (p.Ser10679Arg)
c.31896T>G (p.Ser10632Arg)
c.57939T>G (p.Ser19313Arg)
c.53337T>G (p.Ser17779Arg)
c.53334T>G (p.Ser17778Arg)
c.50376T>G (p.Ser16792Arg)
c.31992T>G (p.Ser10664Arg)
c.53487T>G (p.Ser17829Arg)
c.53484T>G (p.Ser17828Arg)
c.52917T>G (p.Ser17639Arg)
c.50259T>G (p.Ser16753Arg)
c.50178T>G (p.Ser16726Arg)
c.31941T>G (p.Ser10647Arg)
c.21795T>G (p.Ser7265Arg)
2g.178593073A>GCA430267874TTN,TTN-AS1c.51342T>C (p.Ser17114=)
c.32427T>C (p.Ser10809=)
c.32226T>C (p.Ser10742=)
c.31851T>C (p.Ser10617=)
c.59046T>C (p.Ser19682=)
c.54123T>C (p.Ser18041=)
n.597-4523A>G
n.3364+1759A>G
c.58143T>C (p.Ser19381=)
c.32037T>C (p.Ser10679=)
c.31896T>C (p.Ser10632=)
c.57939T>C (p.Ser19313=)
c.53337T>C (p.Ser17779=)
c.53334T>C (p.Ser17778=)
c.50376T>C (p.Ser16792=)
c.31992T>C (p.Ser10664=)
c.53487T>C (p.Ser17829=)
c.53484T>C (p.Ser17828=)
c.52917T>C (p.Ser17639=)
c.50259T>C (p.Ser16753=)
c.50178T>C (p.Ser16726=)
c.31941T>C (p.Ser10647=)
c.21795T>C (p.Ser7265=)
2g.178593073A>TCA349496774TTN,TTN-AS1c.51342T>A (p.Ser17114Arg)
c.32427T>A (p.Ser10809Arg)
c.32226T>A (p.Ser10742Arg)
c.31851T>A (p.Ser10617Arg)
c.59046T>A (p.Ser19682Arg)
c.54123T>A (p.Ser18041Arg)
n.597-4523A>T
n.3364+1759A>T
c.58143T>A (p.Ser19381Arg)
c.32037T>A (p.Ser10679Arg)
c.31896T>A (p.Ser10632Arg)
c.57939T>A (p.Ser19313Arg)
c.53337T>A (p.Ser17779Arg)
c.53334T>A (p.Ser17778Arg)
c.50376T>A (p.Ser16792Arg)
c.31992T>A (p.Ser10664Arg)
c.53487T>A (p.Ser17829Arg)
c.53484T>A (p.Ser17828Arg)
c.52917T>A (p.Ser17639Arg)
c.50259T>A (p.Ser16753Arg)
c.50178T>A (p.Ser16726Arg)
c.31941T>A (p.Ser10647Arg)
c.21795T>A (p.Ser7265Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178593074C>ACA349496790TTN,TTN-AS1c.51341G>T (p.Ser17114Ile)
c.32426G>T (p.Ser10809Ile)
c.32225G>T (p.Ser10742Ile)
c.31850G>T (p.Ser10617Ile)
c.59045G>T (p.Ser19682Ile)
c.54122G>T (p.Ser18041Ile)
n.597-4522C>A
n.3364+1760C>A
c.58142G>T (p.Ser19381Ile)
c.32036G>T (p.Ser10679Ile)
c.31895G>T (p.Ser10632Ile)
c.57938G>T (p.Ser19313Ile)
c.53336G>T (p.Ser17779Ile)
c.53333G>T (p.Ser17778Ile)
c.50375G>T (p.Ser16792Ile)
c.31991G>T (p.Ser10664Ile)
c.53486G>T (p.Ser17829Ile)
c.53483G>T (p.Ser17828Ile)
c.52916G>T (p.Ser17639Ile)
c.50258G>T (p.Ser16753Ile)
c.50177G>T (p.Ser16726Ile)
c.31940G>T (p.Ser10647Ile)
c.21794G>T (p.Ser7265Ile)
 dbSNP
2g.178593074C=CA1310540327TTN,TTN-AS1c.51341G= (p.Ser17114=)
c.32426G= (p.Ser10809=)
c.32225G= (p.Ser10742=)
c.31850G= (p.Ser10617=)
c.59045G= (p.Ser19682=)
c.54122G= (p.Ser18041=)
n.597-4522C=
n.3364+1760C=
c.58142G= (p.Ser19381=)
c.32036G= (p.Ser10679=)
c.31895G= (p.Ser10632=)
c.57938G= (p.Ser19313=)
c.53336G= (p.Ser17779=)
c.53333G= (p.Ser17778=)
c.50375G= (p.Ser16792=)
c.31991G= (p.Ser10664=)
c.53486G= (p.Ser17829=)
c.53483G= (p.Ser17828=)
c.52916G= (p.Ser17639=)
c.50258G= (p.Ser16753=)
c.50177G= (p.Ser16726=)
c.31940G= (p.Ser10647=)
c.21794G= (p.Ser7265=)
2g.178593074C>GCA349496785TTN,TTN-AS1c.51341G>C (p.Ser17114Thr)
c.32426G>C (p.Ser10809Thr)
c.32225G>C (p.Ser10742Thr)
c.31850G>C (p.Ser10617Thr)
c.59045G>C (p.Ser19682Thr)
c.54122G>C (p.Ser18041Thr)
n.597-4522C>G
n.3364+1760C>G
c.58142G>C (p.Ser19381Thr)
c.32036G>C (p.Ser10679Thr)
c.31895G>C (p.Ser10632Thr)
c.57938G>C (p.Ser19313Thr)
c.53336G>C (p.Ser17779Thr)
c.53333G>C (p.Ser17778Thr)
c.50375G>C (p.Ser16792Thr)
c.31991G>C (p.Ser10664Thr)
c.53486G>C (p.Ser17829Thr)
c.53483G>C (p.Ser17828Thr)
c.52916G>C (p.Ser17639Thr)
c.50258G>C (p.Ser16753Thr)
c.50177G>C (p.Ser16726Thr)
c.31940G>C (p.Ser10647Thr)
c.21794G>C (p.Ser7265Thr)
2g.178593074C>TCA349496784TTN,TTN-AS1c.51341G>A (p.Ser17114Asn)
c.32426G>A (p.Ser10809Asn)
c.32225G>A (p.Ser10742Asn)
c.31850G>A (p.Ser10617Asn)
c.59045G>A (p.Ser19682Asn)
c.54122G>A (p.Ser18041Asn)
n.597-4522C>T
n.3364+1760C>T
c.58142G>A (p.Ser19381Asn)
c.32036G>A (p.Ser10679Asn)
c.31895G>A (p.Ser10632Asn)
c.57938G>A (p.Ser19313Asn)
c.53336G>A (p.Ser17779Asn)
c.53333G>A (p.Ser17778Asn)
c.50375G>A (p.Ser16792Asn)
c.31991G>A (p.Ser10664Asn)
c.53486G>A (p.Ser17829Asn)
c.53483G>A (p.Ser17828Asn)
c.52916G>A (p.Ser17639Asn)
c.50258G>A (p.Ser16753Asn)
c.50177G>A (p.Ser16726Asn)
c.31940G>A (p.Ser10647Asn)
c.21794G>A (p.Ser7265Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178593075T>ACA349496793TTN,TTN-AS1c.51340A>T (p.Ser17114Cys)
c.32425A>T (p.Ser10809Cys)
c.32224A>T (p.Ser10742Cys)
c.31849A>T (p.Ser10617Cys)
c.59044A>T (p.Ser19682Cys)
c.54121A>T (p.Ser18041Cys)
n.597-4521T>A
n.3364+1761T>A
c.58141A>T (p.Ser19381Cys)
c.32035A>T (p.Ser10679Cys)
c.31894A>T (p.Ser10632Cys)
c.57937A>T (p.Ser19313Cys)
c.53335A>T (p.Ser17779Cys)
c.53332A>T (p.Ser17778Cys)
c.50374A>T (p.Ser16792Cys)
c.31990A>T (p.Ser10664Cys)
c.53485A>T (p.Ser17829Cys)
c.53482A>T (p.Ser17828Cys)
c.52915A>T (p.Ser17639Cys)
c.50257A>T (p.Ser16753Cys)
c.50176A>T (p.Ser16726Cys)
c.31939A>T (p.Ser10647Cys)
c.21793A>T (p.Ser7265Cys)
2g.178593075T>CCA349496799TTN,TTN-AS1c.51340A>G (p.Ser17114Gly)
c.32425A>G (p.Ser10809Gly)
c.32224A>G (p.Ser10742Gly)
c.31849A>G (p.Ser10617Gly)
c.59044A>G (p.Ser19682Gly)
c.54121A>G (p.Ser18041Gly)
n.597-4521T>C
n.3364+1761T>C
c.58141A>G (p.Ser19381Gly)
c.32035A>G (p.Ser10679Gly)
c.31894A>G (p.Ser10632Gly)
c.57937A>G (p.Ser19313Gly)
c.53335A>G (p.Ser17779Gly)
c.53332A>G (p.Ser17778Gly)
c.50374A>G (p.Ser16792Gly)
c.31990A>G (p.Ser10664Gly)
c.53485A>G (p.Ser17829Gly)
c.53482A>G (p.Ser17828Gly)
c.52915A>G (p.Ser17639Gly)
c.50257A>G (p.Ser16753Gly)
c.50176A>G (p.Ser16726Gly)
c.31939A>G (p.Ser10647Gly)
c.21793A>G (p.Ser7265Gly)
2g.178593075T>GCA349496796TTN,TTN-AS1c.51340A>C (p.Ser17114Arg)
c.32425A>C (p.Ser10809Arg)
c.32224A>C (p.Ser10742Arg)
c.31849A>C (p.Ser10617Arg)
c.59044A>C (p.Ser19682Arg)
c.54121A>C (p.Ser18041Arg)
n.597-4521T>G
n.3364+1761T>G
c.58141A>C (p.Ser19381Arg)
c.32035A>C (p.Ser10679Arg)
c.31894A>C (p.Ser10632Arg)
c.57937A>C (p.Ser19313Arg)
c.53335A>C (p.Ser17779Arg)
c.53332A>C (p.Ser17778Arg)
c.50374A>C (p.Ser16792Arg)
c.31990A>C (p.Ser10664Arg)
c.53485A>C (p.Ser17829Arg)
c.53482A>C (p.Ser17828Arg)
c.52915A>C (p.Ser17639Arg)
c.50257A>C (p.Ser16753Arg)
c.50176A>C (p.Ser16726Arg)
c.31939A>C (p.Ser10647Arg)
c.21793A>C (p.Ser7265Arg)
2g.178593076T>ACA430267875TTN,TTN-AS1c.51339A>T (p.Pro17113=)
c.32424A>T (p.Pro10808=)
c.32223A>T (p.Pro10741=)
c.31848A>T (p.Pro10616=)
c.59043A>T (p.Pro19681=)
c.54120A>T (p.Pro18040=)
n.597-4520T>A
n.3364+1762T>A
c.58140A>T (p.Pro19380=)
c.32034A>T (p.Pro10678=)
c.31893A>T (p.Pro10631=)
c.57936A>T (p.Pro19312=)
c.53334A>T (p.Pro17778=)
c.53331A>T (p.Pro17777=)
c.50373A>T (p.Pro16791=)
c.31989A>T (p.Pro10663=)
c.53484A>T (p.Pro17828=)
c.53481A>T (p.Pro17827=)
c.52914A>T (p.Pro17638=)
c.50256A>T (p.Pro16752=)
c.50175A>T (p.Pro16725=)
c.31938A>T (p.Pro10646=)
c.21792A>T (p.Pro7264=)
2g.178593076T>CCA430267876TTN,TTN-AS1c.51339A>G (p.Pro17113=)
c.32424A>G (p.Pro10808=)
c.32223A>G (p.Pro10741=)
c.31848A>G (p.Pro10616=)
c.59043A>G (p.Pro19681=)
c.54120A>G (p.Pro18040=)
n.597-4520T>C
n.3364+1762T>C
c.58140A>G (p.Pro19380=)
c.32034A>G (p.Pro10678=)
c.31893A>G (p.Pro10631=)
c.57936A>G (p.Pro19312=)
c.53334A>G (p.Pro17778=)
c.53331A>G (p.Pro17777=)
c.50373A>G (p.Pro16791=)
c.31989A>G (p.Pro10663=)
c.53484A>G (p.Pro17828=)
c.53481A>G (p.Pro17827=)
c.52914A>G (p.Pro17638=)
c.50256A>G (p.Pro16752=)
c.50175A>G (p.Pro16725=)
c.31938A>G (p.Pro10646=)
c.21792A>G (p.Pro7264=)
2g.178593076T>GCA430267877TTN,TTN-AS1c.51339A>C (p.Pro17113=)
c.32424A>C (p.Pro10808=)
c.32223A>C (p.Pro10741=)
c.31848A>C (p.Pro10616=)
c.59043A>C (p.Pro19681=)
c.54120A>C (p.Pro18040=)
n.597-4520T>G
n.3364+1762T>G
c.58140A>C (p.Pro19380=)
c.32034A>C (p.Pro10678=)
c.31893A>C (p.Pro10631=)
c.57936A>C (p.Pro19312=)
c.53334A>C (p.Pro17778=)
c.53331A>C (p.Pro17777=)
c.50373A>C (p.Pro16791=)
c.31989A>C (p.Pro10663=)
c.53484A>C (p.Pro17828=)
c.53481A>C (p.Pro17827=)
c.52914A>C (p.Pro17638=)
c.50256A>C (p.Pro16752=)
c.50175A>C (p.Pro16725=)
c.31938A>C (p.Pro10646=)
c.21792A>C (p.Pro7264=)
 ClinVar dbSNP gnomAD v4
2g.178593076T=CA1310540329TTN,TTN-AS1c.51339A= (p.Pro17113=)
c.32424A= (p.Pro10808=)
c.32223A= (p.Pro10741=)
c.31848A= (p.Pro10616=)
c.59043A= (p.Pro19681=)
c.54120A= (p.Pro18040=)
n.597-4520T=
n.3364+1762T=
c.58140A= (p.Pro19380=)
c.32034A= (p.Pro10678=)
c.31893A= (p.Pro10631=)
c.57936A= (p.Pro19312=)
c.53334A= (p.Pro17778=)
c.53331A= (p.Pro17777=)
c.50373A= (p.Pro16791=)
c.31989A= (p.Pro10663=)
c.53484A= (p.Pro17828=)
c.53481A= (p.Pro17827=)
c.52914A= (p.Pro17638=)
c.50256A= (p.Pro16752=)
c.50175A= (p.Pro16725=)
c.31938A= (p.Pro10646=)
c.21792A= (p.Pro7264=)
2g.178593077G>ACA1992724TTN,TTN-AS1c.51338C>T (p.Pro17113Leu)
c.32423C>T (p.Pro10808Leu)
c.32222C>T (p.Pro10741Leu)
c.31847C>T (p.Pro10616Leu)
c.59042C>T (p.Pro19681Leu)
c.54119C>T (p.Pro18040Leu)
n.597-4519G>A
n.3364+1763G>A
c.58139C>T (p.Pro19380Leu)
c.32033C>T (p.Pro10678Leu)
c.31892C>T (p.Pro10631Leu)
c.57935C>T (p.Pro19312Leu)
c.53333C>T (p.Pro17778Leu)
c.53330C>T (p.Pro17777Leu)
c.50372C>T (p.Pro16791Leu)
c.31988C>T (p.Pro10663Leu)
c.53483C>T (p.Pro17828Leu)
c.53480C>T (p.Pro17827Leu)
c.52913C>T (p.Pro17638Leu)
c.50255C>T (p.Pro16752Leu)
c.50174C>T (p.Pro16725Leu)
c.31937C>T (p.Pro10646Leu)
c.21791C>T (p.Pro7264Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178593077G>CCA349496800TTN,TTN-AS1c.51338C>G (p.Pro17113Arg)
c.32423C>G (p.Pro10808Arg)
c.32222C>G (p.Pro10741Arg)
c.31847C>G (p.Pro10616Arg)
c.59042C>G (p.Pro19681Arg)
c.54119C>G (p.Pro18040Arg)
n.597-4519G>C
n.3364+1763G>C
c.58139C>G (p.Pro19380Arg)
c.32033C>G (p.Pro10678Arg)
c.31892C>G (p.Pro10631Arg)
c.57935C>G (p.Pro19312Arg)
c.53333C>G (p.Pro17778Arg)
c.53330C>G (p.Pro17777Arg)
c.50372C>G (p.Pro16791Arg)
c.31988C>G (p.Pro10663Arg)
c.53483C>G (p.Pro17828Arg)
c.53480C>G (p.Pro17827Arg)
c.52913C>G (p.Pro17638Arg)
c.50255C>G (p.Pro16752Arg)
c.50174C>G (p.Pro16725Arg)
c.31937C>G (p.Pro10646Arg)
c.21791C>G (p.Pro7264Arg)
2g.178593077G=CA1310540332TTN,TTN-AS1c.51338C= (p.Pro17113=)
c.32423C= (p.Pro10808=)
c.32222C= (p.Pro10741=)
c.31847C= (p.Pro10616=)
c.59042C= (p.Pro19681=)
c.54119C= (p.Pro18040=)
n.597-4519G=
n.3364+1763G=
c.58139C= (p.Pro19380=)
c.32033C= (p.Pro10678=)
c.31892C= (p.Pro10631=)
c.57935C= (p.Pro19312=)
c.53333C= (p.Pro17778=)
c.53330C= (p.Pro17777=)
c.50372C= (p.Pro16791=)
c.31988C= (p.Pro10663=)
c.53483C= (p.Pro17828=)
c.53480C= (p.Pro17827=)
c.52913C= (p.Pro17638=)
c.50255C= (p.Pro16752=)
c.50174C= (p.Pro16725=)
c.31937C= (p.Pro10646=)
c.21791C= (p.Pro7264=)
2g.178593077G>TCA349496803TTN,TTN-AS1c.51338C>A (p.Pro17113Gln)
c.32423C>A (p.Pro10808Gln)
c.32222C>A (p.Pro10741Gln)
c.31847C>A (p.Pro10616Gln)
c.59042C>A (p.Pro19681Gln)
c.54119C>A (p.Pro18040Gln)
n.597-4519G>T
n.3364+1763G>T
c.58139C>A (p.Pro19380Gln)
c.32033C>A (p.Pro10678Gln)
c.31892C>A (p.Pro10631Gln)
c.57935C>A (p.Pro19312Gln)
c.53333C>A (p.Pro17778Gln)
c.53330C>A (p.Pro17777Gln)
c.50372C>A (p.Pro16791Gln)
c.31988C>A (p.Pro10663Gln)
c.53483C>A (p.Pro17828Gln)
c.53480C>A (p.Pro17827Gln)
c.52913C>A (p.Pro17638Gln)
c.50255C>A (p.Pro16752Gln)
c.50174C>A (p.Pro16725Gln)
c.31937C>A (p.Pro10646Gln)
c.21791C>A (p.Pro7264Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.178593078G>ACA1992725TTN,TTN-AS1c.51337C>T (p.Pro17113Ser)
c.32422C>T (p.Pro10808Ser)
c.32221C>T (p.Pro10741Ser)
c.31846C>T (p.Pro10616Ser)
c.59041C>T (p.Pro19681Ser)
c.54118C>T (p.Pro18040Ser)
n.597-4518G>A
n.3364+1764G>A
c.58138C>T (p.Pro19380Ser)
c.32032C>T (p.Pro10678Ser)
c.31891C>T (p.Pro10631Ser)
c.57934C>T (p.Pro19312Ser)
c.53332C>T (p.Pro17778Ser)
c.53329C>T (p.Pro17777Ser)
c.50371C>T (p.Pro16791Ser)
c.31987C>T (p.Pro10663Ser)
c.53482C>T (p.Pro17828Ser)
c.53479C>T (p.Pro17827Ser)
c.52912C>T (p.Pro17638Ser)
c.50254C>T (p.Pro16752Ser)
c.50173C>T (p.Pro16725Ser)
c.31936C>T (p.Pro10646Ser)
c.21790C>T (p.Pro7264Ser)
 dbSNP ExAC
2g.178593078G>CCA349496804TTN,TTN-AS1c.51337C>G (p.Pro17113Ala)
c.32422C>G (p.Pro10808Ala)
c.32221C>G (p.Pro10741Ala)
c.31846C>G (p.Pro10616Ala)
c.59041C>G (p.Pro19681Ala)
c.54118C>G (p.Pro18040Ala)
n.597-4518G>C
n.3364+1764G>C
c.58138C>G (p.Pro19380Ala)
c.32032C>G (p.Pro10678Ala)
c.31891C>G (p.Pro10631Ala)
c.57934C>G (p.Pro19312Ala)
c.53332C>G (p.Pro17778Ala)
c.53329C>G (p.Pro17777Ala)
c.50371C>G (p.Pro16791Ala)
c.31987C>G (p.Pro10663Ala)
c.53482C>G (p.Pro17828Ala)
c.53479C>G (p.Pro17827Ala)
c.52912C>G (p.Pro17638Ala)
c.50254C>G (p.Pro16752Ala)
c.50173C>G (p.Pro16725Ala)
c.31936C>G (p.Pro10646Ala)
c.21790C>G (p.Pro7264Ala)
2g.178593078G=CA1310540333TTN,TTN-AS1c.51337C= (p.Pro17113=)
c.32422C= (p.Pro10808=)
c.32221C= (p.Pro10741=)
c.31846C= (p.Pro10616=)
c.59041C= (p.Pro19681=)
c.54118C= (p.Pro18040=)
n.597-4518G=
n.3364+1764G=
c.58138C= (p.Pro19380=)
c.32032C= (p.Pro10678=)
c.31891C= (p.Pro10631=)
c.57934C= (p.Pro19312=)
c.53332C= (p.Pro17778=)
c.53329C= (p.Pro17777=)
c.50371C= (p.Pro16791=)
c.31987C= (p.Pro10663=)
c.53482C= (p.Pro17828=)
c.53479C= (p.Pro17827=)
c.52912C= (p.Pro17638=)
c.50254C= (p.Pro16752=)
c.50173C= (p.Pro16725=)
c.31936C= (p.Pro10646=)
c.21790C= (p.Pro7264=)
2g.178593078G>TCA349496807TTN,TTN-AS1c.51337C>A (p.Pro17113Thr)
c.32422C>A (p.Pro10808Thr)
c.32221C>A (p.Pro10741Thr)
c.31846C>A (p.Pro10616Thr)
c.59041C>A (p.Pro19681Thr)
c.54118C>A (p.Pro18040Thr)
n.597-4518G>T
n.3364+1764G>T
c.58138C>A (p.Pro19380Thr)
c.32032C>A (p.Pro10678Thr)
c.31891C>A (p.Pro10631Thr)
c.57934C>A (p.Pro19312Thr)
c.53332C>A (p.Pro17778Thr)
c.53329C>A (p.Pro17777Thr)
c.50371C>A (p.Pro16791Thr)
c.31987C>A (p.Pro10663Thr)
c.53482C>A (p.Pro17828Thr)
c.53479C>A (p.Pro17827Thr)
c.52912C>A (p.Pro17638Thr)
c.50254C>A (p.Pro16752Thr)
c.50173C>A (p.Pro16725Thr)
c.31936C>A (p.Pro10646Thr)
c.21790C>A (p.Pro7264Thr)
2g.178593079T>ACA349496815TTN,TTN-AS1c.51336A>T (p.Lys17112Asn)
c.32421A>T (p.Lys10807Asn)
c.32220A>T (p.Lys10740Asn)
c.31845A>T (p.Lys10615Asn)
c.59040A>T (p.Lys19680Asn)
c.54117A>T (p.Lys18039Asn)
n.597-4517T>A
n.3364+1765T>A
c.58137A>T (p.Lys19379Asn)
c.32031A>T (p.Lys10677Asn)
c.31890A>T (p.Lys10630Asn)
c.57933A>T (p.Lys19311Asn)
c.53331A>T (p.Lys17777Asn)
c.53328A>T (p.Lys17776Asn)
c.50370A>T (p.Lys16790Asn)
c.31986A>T (p.Lys10662Asn)
c.53481A>T (p.Lys17827Asn)
c.53478A>T (p.Lys17826Asn)
c.52911A>T (p.Lys17637Asn)
c.50253A>T (p.Lys16751Asn)
c.50172A>T (p.Lys16724Asn)
c.31935A>T (p.Lys10645Asn)
c.21789A>T (p.Lys7263Asn)
2g.178593079T>CCA430267878TTN,TTN-AS1c.51336A>G (p.Lys17112=)
c.32421A>G (p.Lys10807=)
c.32220A>G (p.Lys10740=)
c.31845A>G (p.Lys10615=)
c.59040A>G (p.Lys19680=)
c.54117A>G (p.Lys18039=)
n.597-4517T>C
n.3364+1765T>C
c.58137A>G (p.Lys19379=)
c.32031A>G (p.Lys10677=)
c.31890A>G (p.Lys10630=)
c.57933A>G (p.Lys19311=)
c.53331A>G (p.Lys17777=)
c.53328A>G (p.Lys17776=)
c.50370A>G (p.Lys16790=)
c.31986A>G (p.Lys10662=)
c.53481A>G (p.Lys17827=)
c.53478A>G (p.Lys17826=)
c.52911A>G (p.Lys17637=)
c.50253A>G (p.Lys16751=)
c.50172A>G (p.Lys16724=)
c.31935A>G (p.Lys10645=)
c.21789A>G (p.Lys7263=)
2g.178593079T>GCA349496816TTN,TTN-AS1c.51336A>C (p.Lys17112Asn)
c.32421A>C (p.Lys10807Asn)
c.32220A>C (p.Lys10740Asn)
c.31845A>C (p.Lys10615Asn)
c.59040A>C (p.Lys19680Asn)
c.54117A>C (p.Lys18039Asn)
n.597-4517T>G
n.3364+1765T>G
c.58137A>C (p.Lys19379Asn)
c.32031A>C (p.Lys10677Asn)
c.31890A>C (p.Lys10630Asn)
c.57933A>C (p.Lys19311Asn)
c.53331A>C (p.Lys17777Asn)
c.53328A>C (p.Lys17776Asn)
c.50370A>C (p.Lys16790Asn)
c.31986A>C (p.Lys10662Asn)
c.53481A>C (p.Lys17827Asn)
c.53478A>C (p.Lys17826Asn)
c.52911A>C (p.Lys17637Asn)
c.50253A>C (p.Lys16751Asn)
c.50172A>C (p.Lys16724Asn)
c.31935A>C (p.Lys10645Asn)
c.21789A>C (p.Lys7263Asn)
2g.178593080T>ACA349496821TTN,TTN-AS1c.51335A>T (p.Lys17112Ile)
c.32420A>T (p.Lys10807Ile)
c.32219A>T (p.Lys10740Ile)
c.31844A>T (p.Lys10615Ile)
c.59039A>T (p.Lys19680Ile)
c.54116A>T (p.Lys18039Ile)
n.597-4516T>A
n.3364+1766T>A
c.58136A>T (p.Lys19379Ile)
c.32030A>T (p.Lys10677Ile)
c.31889A>T (p.Lys10630Ile)
c.57932A>T (p.Lys19311Ile)
c.53330A>T (p.Lys17777Ile)
c.53327A>T (p.Lys17776Ile)
c.50369A>T (p.Lys16790Ile)
c.31985A>T (p.Lys10662Ile)
c.53480A>T (p.Lys17827Ile)
c.53477A>T (p.Lys17826Ile)
c.52910A>T (p.Lys17637Ile)
c.50252A>T (p.Lys16751Ile)
c.50171A>T (p.Lys16724Ile)
c.31934A>T (p.Lys10645Ile)
c.21788A>T (p.Lys7263Ile)
2g.178593080T>CCA349496823TTN,TTN-AS1c.51335A>G (p.Lys17112Arg)
c.32420A>G (p.Lys10807Arg)
c.32219A>G (p.Lys10740Arg)
c.31844A>G (p.Lys10615Arg)
c.59039A>G (p.Lys19680Arg)
c.54116A>G (p.Lys18039Arg)
n.597-4516T>C
n.3364+1766T>C
c.58136A>G (p.Lys19379Arg)
c.32030A>G (p.Lys10677Arg)
c.31889A>G (p.Lys10630Arg)
c.57932A>G (p.Lys19311Arg)
c.53330A>G (p.Lys17777Arg)
c.53327A>G (p.Lys17776Arg)
c.50369A>G (p.Lys16790Arg)
c.31985A>G (p.Lys10662Arg)
c.53480A>G (p.Lys17827Arg)
c.53477A>G (p.Lys17826Arg)
c.52910A>G (p.Lys17637Arg)
c.50252A>G (p.Lys16751Arg)
c.50171A>G (p.Lys16724Arg)
c.31934A>G (p.Lys10645Arg)
c.21788A>G (p.Lys7263Arg)
2g.178593080T>GCA349496824TTN,TTN-AS1c.51335A>C (p.Lys17112Thr)
c.32420A>C (p.Lys10807Thr)
c.32219A>C (p.Lys10740Thr)
c.31844A>C (p.Lys10615Thr)
c.59039A>C (p.Lys19680Thr)
c.54116A>C (p.Lys18039Thr)
n.597-4516T>G
n.3364+1766T>G
c.58136A>C (p.Lys19379Thr)
c.32030A>C (p.Lys10677Thr)
c.31889A>C (p.Lys10630Thr)
c.57932A>C (p.Lys19311Thr)
c.53330A>C (p.Lys17777Thr)
c.53327A>C (p.Lys17776Thr)
c.50369A>C (p.Lys16790Thr)
c.31985A>C (p.Lys10662Thr)
c.53480A>C (p.Lys17827Thr)
c.53477A>C (p.Lys17826Thr)
c.52910A>C (p.Lys17637Thr)
c.50252A>C (p.Lys16751Thr)
c.50171A>C (p.Lys16724Thr)
c.31934A>C (p.Lys10645Thr)
c.21788A>C (p.Lys7263Thr)
2g.178593081T>ACA349496833TTN,TTN-AS1c.51334A>T (p.Lys17112Ter)
c.32419A>T (p.Lys10807Ter)
c.32218A>T (p.Lys10740Ter)
c.31843A>T (p.Lys10615Ter)
c.59038A>T (p.Lys19680Ter)
c.54115A>T (p.Lys18039Ter)
n.597-4515T>A
n.3364+1767T>A
c.58135A>T (p.Lys19379Ter)
c.32029A>T (p.Lys10677Ter)
c.31888A>T (p.Lys10630Ter)
c.57931A>T (p.Lys19311Ter)
c.53329A>T (p.Lys17777Ter)
c.53326A>T (p.Lys17776Ter)
c.50368A>T (p.Lys16790Ter)
c.31984A>T (p.Lys10662Ter)
c.53479A>T (p.Lys17827Ter)
c.53476A>T (p.Lys17826Ter)
c.52909A>T (p.Lys17637Ter)
c.50251A>T (p.Lys16751Ter)
c.50170A>T (p.Lys16724Ter)
c.31933A>T (p.Lys10645Ter)
c.21787A>T (p.Lys7263Ter)
2g.178593081T>CCA349496832TTN,TTN-AS1c.51334A>G (p.Lys17112Glu)
c.32419A>G (p.Lys10807Glu)
c.32218A>G (p.Lys10740Glu)
c.31843A>G (p.Lys10615Glu)
c.59038A>G (p.Lys19680Glu)
c.54115A>G (p.Lys18039Glu)
n.597-4515T>C
n.3364+1767T>C
c.58135A>G (p.Lys19379Glu)
c.32029A>G (p.Lys10677Glu)
c.31888A>G (p.Lys10630Glu)
c.57931A>G (p.Lys19311Glu)
c.53329A>G (p.Lys17777Glu)
c.53326A>G (p.Lys17776Glu)
c.50368A>G (p.Lys16790Glu)
c.31984A>G (p.Lys10662Glu)
c.53479A>G (p.Lys17827Glu)
c.53476A>G (p.Lys17826Glu)
c.52909A>G (p.Lys17637Glu)
c.50251A>G (p.Lys16751Glu)
c.50170A>G (p.Lys16724Glu)
c.31933A>G (p.Lys10645Glu)
c.21787A>G (p.Lys7263Glu)
 dbSNP gnomAD v4
2g.178593081T>GCA349496829TTN,TTN-AS1c.51334A>C (p.Lys17112Gln)
c.32419A>C (p.Lys10807Gln)
c.32218A>C (p.Lys10740Gln)
c.31843A>C (p.Lys10615Gln)
c.59038A>C (p.Lys19680Gln)
c.54115A>C (p.Lys18039Gln)
n.597-4515T>G
n.3364+1767T>G
c.58135A>C (p.Lys19379Gln)
c.32029A>C (p.Lys10677Gln)
c.31888A>C (p.Lys10630Gln)
c.57931A>C (p.Lys19311Gln)
c.53329A>C (p.Lys17777Gln)
c.53326A>C (p.Lys17776Gln)
c.50368A>C (p.Lys16790Gln)
c.31984A>C (p.Lys10662Gln)
c.53479A>C (p.Lys17827Gln)
c.53476A>C (p.Lys17826Gln)
c.52909A>C (p.Lys17637Gln)
c.50251A>C (p.Lys16751Gln)
c.50170A>C (p.Lys16724Gln)
c.31933A>C (p.Lys10645Gln)
c.21787A>C (p.Lys7263Gln)
 dbSNP
2g.178593081T=CA1310540335TTN,TTN-AS1c.51334A= (p.Lys17112=)
c.32419A= (p.Lys10807=)
c.32218A= (p.Lys10740=)
c.31843A= (p.Lys10615=)
c.59038A= (p.Lys19680=)
c.54115A= (p.Lys18039=)
n.597-4515T=
n.3364+1767T=
c.58135A= (p.Lys19379=)
c.32029A= (p.Lys10677=)
c.31888A= (p.Lys10630=)
c.57931A= (p.Lys19311=)
c.53329A= (p.Lys17777=)
c.53326A= (p.Lys17776=)
c.50368A= (p.Lys16790=)
c.31984A= (p.Lys10662=)
c.53479A= (p.Lys17827=)
c.53476A= (p.Lys17826=)
c.52909A= (p.Lys17637=)
c.50251A= (p.Lys16751=)
c.50170A= (p.Lys16724=)
c.31933A= (p.Lys10645=)
c.21787A= (p.Lys7263=)
2g.178593082A>CCA430267879TTN,TTN-AS1c.51333T>G (p.Ala17111=)
c.32418T>G (p.Ala10806=)
c.32217T>G (p.Ala10739=)
c.31842T>G (p.Ala10614=)
c.59037T>G (p.Ala19679=)
c.54114T>G (p.Ala18038=)
n.597-4514A>C
n.3364+1768A>C
c.58134T>G (p.Ala19378=)
c.32028T>G (p.Ala10676=)
c.31887T>G (p.Ala10629=)
c.57930T>G (p.Ala19310=)
c.53328T>G (p.Ala17776=)
c.53325T>G (p.Ala17775=)
c.50367T>G (p.Ala16789=)
c.31983T>G (p.Ala10661=)
c.53478T>G (p.Ala17826=)
c.53475T>G (p.Ala17825=)
c.52908T>G (p.Ala17636=)
c.50250T>G (p.Ala16750=)
c.50169T>G (p.Ala16723=)
c.31932T>G (p.Ala10644=)
c.21786T>G (p.Ala7262=)
2g.178593082A>GCA430267880TTN,TTN-AS1c.51333T>C (p.Ala17111=)
c.32418T>C (p.Ala10806=)
c.32217T>C (p.Ala10739=)
c.31842T>C (p.Ala10614=)
c.59037T>C (p.Ala19679=)
c.54114T>C (p.Ala18038=)
n.597-4514A>G
n.3364+1768A>G
c.58134T>C (p.Ala19378=)
c.32028T>C (p.Ala10676=)
c.31887T>C (p.Ala10629=)
c.57930T>C (p.Ala19310=)
c.53328T>C (p.Ala17776=)
c.53325T>C (p.Ala17775=)
c.50367T>C (p.Ala16789=)
c.31983T>C (p.Ala10661=)
c.53478T>C (p.Ala17826=)
c.53475T>C (p.Ala17825=)
c.52908T>C (p.Ala17636=)
c.50250T>C (p.Ala16750=)
c.50169T>C (p.Ala16723=)
c.31932T>C (p.Ala10644=)
c.21786T>C (p.Ala7262=)
 gnomAD v4
2g.178593082A>TCA430267881TTN,TTN-AS1c.51333T>A (p.Ala17111=)
c.32418T>A (p.Ala10806=)
c.32217T>A (p.Ala10739=)
c.31842T>A (p.Ala10614=)
c.59037T>A (p.Ala19679=)
c.54114T>A (p.Ala18038=)
n.597-4514A>T
n.3364+1768A>T
c.58134T>A (p.Ala19378=)
c.32028T>A (p.Ala10676=)
c.31887T>A (p.Ala10629=)
c.57930T>A (p.Ala19310=)
c.53328T>A (p.Ala17776=)
c.53325T>A (p.Ala17775=)
c.50367T>A (p.Ala16789=)
c.31983T>A (p.Ala10661=)
c.53478T>A (p.Ala17826=)
c.53475T>A (p.Ala17825=)
c.52908T>A (p.Ala17636=)
c.50250T>A (p.Ala16750=)
c.50169T>A (p.Ala16723=)
c.31932T>A (p.Ala10644=)
c.21786T>A (p.Ala7262=)
2g.178593083G>ACA349496834TTN,TTN-AS1c.51332C>T (p.Ala17111Val)
c.32417C>T (p.Ala10806Val)
c.32216C>T (p.Ala10739Val)
c.31841C>T (p.Ala10614Val)
c.59036C>T (p.Ala19679Val)
c.54113C>T (p.Ala18038Val)
n.597-4513G>A
n.3364+1769G>A
c.58133C>T (p.Ala19378Val)
c.32027C>T (p.Ala10676Val)
c.31886C>T (p.Ala10629Val)
c.57929C>T (p.Ala19310Val)
c.53327C>T (p.Ala17776Val)
c.53324C>T (p.Ala17775Val)
c.50366C>T (p.Ala16789Val)
c.31982C>T (p.Ala10661Val)
c.53477C>T (p.Ala17826Val)
c.53474C>T (p.Ala17825Val)
c.52907C>T (p.Ala17636Val)
c.50249C>T (p.Ala16750Val)
c.50168C>T (p.Ala16723Val)
c.31931C>T (p.Ala10644Val)
c.21785C>T (p.Ala7262Val)
 ClinVar dbSNP
2g.178593083G>CCA349496835TTN,TTN-AS1c.51332C>G (p.Ala17111Gly)
c.32417C>G (p.Ala10806Gly)
c.32216C>G (p.Ala10739Gly)
c.31841C>G (p.Ala10614Gly)
c.59036C>G (p.Ala19679Gly)
c.54113C>G (p.Ala18038Gly)
n.597-4513G>C
n.3364+1769G>C
c.58133C>G (p.Ala19378Gly)
c.32027C>G (p.Ala10676Gly)
c.31886C>G (p.Ala10629Gly)
c.57929C>G (p.Ala19310Gly)
c.53327C>G (p.Ala17776Gly)
c.53324C>G (p.Ala17775Gly)
c.50366C>G (p.Ala16789Gly)
c.31982C>G (p.Ala10661Gly)
c.53477C>G (p.Ala17826Gly)
c.53474C>G (p.Ala17825Gly)
c.52907C>G (p.Ala17636Gly)
c.50249C>G (p.Ala16750Gly)
c.50168C>G (p.Ala16723Gly)
c.31931C>G (p.Ala10644Gly)
c.21785C>G (p.Ala7262Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178593083G=CA1310540337TTN,TTN-AS1c.51332C= (p.Ala17111=)
c.32417C= (p.Ala10806=)
c.32216C= (p.Ala10739=)
c.31841C= (p.Ala10614=)
c.59036C= (p.Ala19679=)
c.54113C= (p.Ala18038=)
n.597-4513G=
n.3364+1769G=
c.58133C= (p.Ala19378=)
c.32027C= (p.Ala10676=)
c.31886C= (p.Ala10629=)
c.57929C= (p.Ala19310=)
c.53327C= (p.Ala17776=)
c.53324C= (p.Ala17775=)
c.50366C= (p.Ala16789=)
c.31982C= (p.Ala10661=)
c.53477C= (p.Ala17826=)
c.53474C= (p.Ala17825=)
c.52907C= (p.Ala17636=)
c.50249C= (p.Ala16750=)
c.50168C= (p.Ala16723=)
c.31931C= (p.Ala10644=)
c.21785C= (p.Ala7262=)
2g.178593083G>TCA349496839TTN,TTN-AS1c.51332C>A (p.Ala17111Asp)
c.32417C>A (p.Ala10806Asp)
c.32216C>A (p.Ala10739Asp)
c.31841C>A (p.Ala10614Asp)
c.59036C>A (p.Ala19679Asp)
c.54113C>A (p.Ala18038Asp)
n.597-4513G>T
n.3364+1769G>T
c.58133C>A (p.Ala19378Asp)
c.32027C>A (p.Ala10676Asp)
c.31886C>A (p.Ala10629Asp)
c.57929C>A (p.Ala19310Asp)
c.53327C>A (p.Ala17776Asp)
c.53324C>A (p.Ala17775Asp)
c.50366C>A (p.Ala16789Asp)
c.31982C>A (p.Ala10661Asp)
c.53477C>A (p.Ala17826Asp)
c.53474C>A (p.Ala17825Asp)
c.52907C>A (p.Ala17636Asp)
c.50249C>A (p.Ala16750Asp)
c.50168C>A (p.Ala16723Asp)
c.31931C>A (p.Ala10644Asp)
c.21785C>A (p.Ala7262Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178593084C>ACA349496843TTN,TTN-AS1c.51332-1G>T (n.51332-1G>T)
c.32417-1G>T (n.32417-1G>T)
c.32216-1G>T (n.32216-1G>T)
c.31841-1G>T (n.31841-1G>T)
c.59036-1G>T (n.59036-1G>T)
c.54113-1G>T (n.54113-1G>T)
n.597-4512C>A
n.3364+1770C>A
c.58133-1G>T (n.58133-1G>T)
c.32027-1G>T (n.32027-1G>T)
c.31886-1G>T (n.31886-1G>T)
c.57929-1G>T (n.57929-1G>T)
c.53327-1G>T (n.53327-1G>T)
c.53324-1G>T (n.53324-1G>T)
c.50366-1G>T (n.50366-1G>T)
c.31982-1G>T (n.31982-1G>T)
c.53477-1G>T (n.53477-1G>T)
c.53474-1G>T (n.53474-1G>T)
c.52907-1G>T (n.52907-1G>T)
c.50249-1G>T (n.50249-1G>T)
c.50168-1G>T (n.50168-1G>T)
c.31931-1G>T (n.31931-1G>T)
c.21785-1G>T (n.21785-1G>T)
2g.178593084C>GCA349496846TTN,TTN-AS1c.51332-1G>C (n.51332-1G>C)
c.32417-1G>C (n.32417-1G>C)
c.32216-1G>C (n.32216-1G>C)
c.31841-1G>C (n.31841-1G>C)
c.59036-1G>C (n.59036-1G>C)
c.54113-1G>C (n.54113-1G>C)
n.597-4512C>G
n.3364+1770C>G
c.58133-1G>C (n.58133-1G>C)
c.32027-1G>C (n.32027-1G>C)
c.31886-1G>C (n.31886-1G>C)
c.57929-1G>C (n.57929-1G>C)
c.53327-1G>C (n.53327-1G>C)
c.53324-1G>C (n.53324-1G>C)
c.50366-1G>C (n.50366-1G>C)
c.31982-1G>C (n.31982-1G>C)
c.53477-1G>C (n.53477-1G>C)
c.53474-1G>C (n.53474-1G>C)
c.52907-1G>C (n.52907-1G>C)
c.50249-1G>C (n.50249-1G>C)
c.50168-1G>C (n.50168-1G>C)
c.31931-1G>C (n.31931-1G>C)
c.21785-1G>C (n.21785-1G>C)
2g.178593084C>TCA349496848TTN,TTN-AS1c.51332-1G>A (n.51332-1G>A)
c.32417-1G>A (n.32417-1G>A)
c.32216-1G>A (n.32216-1G>A)
c.31841-1G>A (n.31841-1G>A)
c.59036-1G>A (n.59036-1G>A)
c.54113-1G>A (n.54113-1G>A)
n.597-4512C>T
n.3364+1770C>T
c.58133-1G>A (n.58133-1G>A)
c.32027-1G>A (n.32027-1G>A)
c.31886-1G>A (n.31886-1G>A)
c.57929-1G>A (n.57929-1G>A)
c.53327-1G>A (n.53327-1G>A)
c.53324-1G>A (n.53324-1G>A)
c.50366-1G>A (n.50366-1G>A)
c.31982-1G>A (n.31982-1G>A)
c.53477-1G>A (n.53477-1G>A)
c.53474-1G>A (n.53474-1G>A)
c.52907-1G>A (n.52907-1G>A)
c.50249-1G>A (n.50249-1G>A)
c.50168-1G>A (n.50168-1G>A)
c.31931-1G>A (n.31931-1G>A)
c.21785-1G>A (n.21785-1G>A)
2g.178593085T>ACA349496851TTN,TTN-AS1c.51332-2A>T (n.51332-2A>T)
c.32417-2A>T (n.32417-2A>T)
c.32216-2A>T (n.32216-2A>T)
c.31841-2A>T (n.31841-2A>T)
c.59036-2A>T (n.59036-2A>T)
c.54113-2A>T (n.54113-2A>T)
n.597-4511T>A
n.3364+1771T>A
c.58133-2A>T (n.58133-2A>T)
c.32027-2A>T (n.32027-2A>T)
c.31886-2A>T (n.31886-2A>T)
c.57929-2A>T (n.57929-2A>T)
c.53327-2A>T (n.53327-2A>T)
c.53324-2A>T (n.53324-2A>T)
c.50366-2A>T (n.50366-2A>T)
c.31982-2A>T (n.31982-2A>T)
c.53477-2A>T (n.53477-2A>T)
c.53474-2A>T (n.53474-2A>T)
c.52907-2A>T (n.52907-2A>T)
c.50249-2A>T (n.50249-2A>T)
c.50168-2A>T (n.50168-2A>T)
c.31931-2A>T (n.31931-2A>T)
c.21785-2A>T (n.21785-2A>T)
2g.178593085T>CCA349496853TTN,TTN-AS1c.51332-2A>G (n.51332-2A>G)
c.32417-2A>G (n.32417-2A>G)
c.32216-2A>G (n.32216-2A>G)
c.31841-2A>G (n.31841-2A>G)
c.59036-2A>G (n.59036-2A>G)
c.54113-2A>G (n.54113-2A>G)
n.597-4511T>C
n.3364+1771T>C
c.58133-2A>G (n.58133-2A>G)
c.32027-2A>G (n.32027-2A>G)
c.31886-2A>G (n.31886-2A>G)
c.57929-2A>G (n.57929-2A>G)
c.53327-2A>G (n.53327-2A>G)
c.53324-2A>G (n.53324-2A>G)
c.50366-2A>G (n.50366-2A>G)
c.31982-2A>G (n.31982-2A>G)
c.53477-2A>G (n.53477-2A>G)
c.53474-2A>G (n.53474-2A>G)
c.52907-2A>G (n.52907-2A>G)
c.50249-2A>G (n.50249-2A>G)
c.50168-2A>G (n.50168-2A>G)
c.31931-2A>G (n.31931-2A>G)
c.21785-2A>G (n.21785-2A>G)
2g.178593085T>GCA349496856TTN,TTN-AS1c.51332-2A>C (n.51332-2A>C)
c.32417-2A>C (n.32417-2A>C)
c.32216-2A>C (n.32216-2A>C)
c.31841-2A>C (n.31841-2A>C)
c.59036-2A>C (n.59036-2A>C)
c.54113-2A>C (n.54113-2A>C)
n.597-4511T>G
n.3364+1771T>G
c.58133-2A>C (n.58133-2A>C)
c.32027-2A>C (n.32027-2A>C)
c.31886-2A>C (n.31886-2A>C)
c.57929-2A>C (n.57929-2A>C)
c.53327-2A>C (n.53327-2A>C)
c.53324-2A>C (n.53324-2A>C)
c.50366-2A>C (n.50366-2A>C)
c.31982-2A>C (n.31982-2A>C)
c.53477-2A>C (n.53477-2A>C)
c.53474-2A>C (n.53474-2A>C)
c.52907-2A>C (n.52907-2A>C)
c.50249-2A>C (n.50249-2A>C)
c.50168-2A>C (n.50168-2A>C)
c.31931-2A>C (n.31931-2A>C)
c.21785-2A>C (n.21785-2A>C)
2g.178593086A=CA1310540339TTN,TTN-AS1c.51332-3T= (n.51332-3T=)
c.32417-3T= (n.32417-3T=)
c.32216-3T= (n.32216-3T=)
c.31841-3T= (n.31841-3T=)
c.59036-3T= (n.59036-3T=)
c.54113-3T= (n.54113-3T=)
n.597-4510A=
n.3364+1772A=
c.58133-3T= (n.58133-3T=)
c.32027-3T= (n.32027-3T=)
c.31886-3T= (n.31886-3T=)
c.57929-3T= (n.57929-3T=)
c.53327-3T= (n.53327-3T=)
c.53324-3T= (n.53324-3T=)
c.50366-3T= (n.50366-3T=)
c.31982-3T= (n.31982-3T=)
c.53477-3T= (n.53477-3T=)
c.53474-3T= (n.53474-3T=)
c.52907-3T= (n.52907-3T=)
c.50249-3T= (n.50249-3T=)
c.50168-3T= (n.50168-3T=)
c.31931-3T= (n.31931-3T=)
c.21785-3T= (n.21785-3T=)
2g.178593086A>GCA1992726TTN,TTN-AS1c.51332-3T>C (n.51332-3T>C)
c.32417-3T>C (n.32417-3T>C)
c.32216-3T>C (n.32216-3T>C)
c.31841-3T>C (n.31841-3T>C)
c.59036-3T>C (n.59036-3T>C)
c.54113-3T>C (n.54113-3T>C)
n.597-4510A>G
n.3364+1772A>G
c.58133-3T>C (n.58133-3T>C)
c.32027-3T>C (n.32027-3T>C)
c.31886-3T>C (n.31886-3T>C)
c.57929-3T>C (n.57929-3T>C)
c.53327-3T>C (n.53327-3T>C)
c.53324-3T>C (n.53324-3T>C)
c.50366-3T>C (n.50366-3T>C)
c.31982-3T>C (n.31982-3T>C)
c.53477-3T>C (n.53477-3T>C)
c.53474-3T>C (n.53474-3T>C)
c.52907-3T>C (n.52907-3T>C)
c.50249-3T>C (n.50249-3T>C)
c.50168-3T>C (n.50168-3T>C)
c.31931-3T>C (n.31931-3T>C)
c.21785-3T>C (n.21785-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178593091dupCA2662130831TTN,TTN-AS1c.51332-3dup (n.51332-3dup)
c.32417-3dup (n.32417-3dup)
c.32216-3dup (n.32216-3dup)
c.31841-3dup (n.31841-3dup)
c.59036-3dup (n.59036-3dup)
c.54113-3dup (n.54113-3dup)
n.597-4505dup
n.3364+1777dup
c.58133-3dup (n.58133-3dup)
c.32027-3dup (n.32027-3dup)
c.31886-3dup (n.31886-3dup)
c.57929-3dup (n.57929-3dup)
c.53327-3dup (n.53327-3dup)
c.53324-3dup (n.53324-3dup)
c.50366-3dup (n.50366-3dup)
c.31982-3dup (n.31982-3dup)
c.53477-3dup (n.53477-3dup)
c.53474-3dup (n.53474-3dup)
c.52907-3dup (n.52907-3dup)
c.50249-3dup (n.50249-3dup)
c.50168-3dup (n.50168-3dup)
c.31931-3dup (n.31931-3dup)
c.21785-3dup (n.21785-3dup)
 gnomAD v4
2g.178593090A=CA1310540341TTN,TTN-AS1c.51332-7T= (n.51332-7T=)
c.32417-7T= (n.32417-7T=)
c.32216-7T= (n.32216-7T=)
c.31841-7T= (n.31841-7T=)
c.59036-7T= (n.59036-7T=)
c.54113-7T= (n.54113-7T=)
n.597-4506A=
n.3364+1776A=
c.58133-7T= (n.58133-7T=)
c.32027-7T= (n.32027-7T=)
c.31886-7T= (n.31886-7T=)
c.57929-7T= (n.57929-7T=)
c.53327-7T= (n.53327-7T=)
c.53324-7T= (n.53324-7T=)
c.50366-7T= (n.50366-7T=)
c.31982-7T= (n.31982-7T=)
c.53477-7T= (n.53477-7T=)
c.53474-7T= (n.53474-7T=)
c.52907-7T= (n.52907-7T=)
c.50249-7T= (n.50249-7T=)
c.50168-7T= (n.50168-7T=)
c.31931-7T= (n.31931-7T=)
c.21785-7T= (n.21785-7T=)
2g.178593090A>TCA538435607TTN,TTN-AS1c.51332-7T>A (n.51332-7T>A)
c.32417-7T>A (n.32417-7T>A)
c.32216-7T>A (n.32216-7T>A)
c.31841-7T>A (n.31841-7T>A)
c.59036-7T>A (n.59036-7T>A)
c.54113-7T>A (n.54113-7T>A)
n.597-4506A>T
n.3364+1776A>T
c.58133-7T>A (n.58133-7T>A)
c.32027-7T>A (n.32027-7T>A)
c.31886-7T>A (n.31886-7T>A)
c.57929-7T>A (n.57929-7T>A)
c.53327-7T>A (n.53327-7T>A)
c.53324-7T>A (n.53324-7T>A)
c.50366-7T>A (n.50366-7T>A)
c.31982-7T>A (n.31982-7T>A)
c.53477-7T>A (n.53477-7T>A)
c.53474-7T>A (n.53474-7T>A)
c.52907-7T>A (n.52907-7T>A)
c.50249-7T>A (n.50249-7T>A)
c.50168-7T>A (n.50168-7T>A)
c.31931-7T>A (n.31931-7T>A)
c.21785-7T>A (n.21785-7T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.178593091A=CA1310540344TTN,TTN-AS1c.51332-8T= (n.51332-8T=)
c.32417-8T= (n.32417-8T=)
c.32216-8T= (n.32216-8T=)
c.31841-8T= (n.31841-8T=)
c.59036-8T= (n.59036-8T=)
c.54113-8T= (n.54113-8T=)
n.597-4505A=
n.3364+1777A=
c.58133-8T= (n.58133-8T=)
c.32027-8T= (n.32027-8T=)
c.31886-8T= (n.31886-8T=)
c.57929-8T= (n.57929-8T=)
c.53327-8T= (n.53327-8T=)
c.53324-8T= (n.53324-8T=)
c.50366-8T= (n.50366-8T=)
c.31982-8T= (n.31982-8T=)
c.53477-8T= (n.53477-8T=)
c.53474-8T= (n.53474-8T=)
c.52907-8T= (n.52907-8T=)
c.50249-8T= (n.50249-8T=)
c.50168-8T= (n.50168-8T=)
c.31931-8T= (n.31931-8T=)
c.21785-8T= (n.21785-8T=)
2g.178593091A>CCA2662130836TTN,TTN-AS1c.51332-8T>G (n.51332-8T>G)
c.32417-8T>G (n.32417-8T>G)
c.32216-8T>G (n.32216-8T>G)
c.31841-8T>G (n.31841-8T>G)
c.59036-8T>G (n.59036-8T>G)
c.54113-8T>G (n.54113-8T>G)
n.597-4505A>C
n.3364+1777A>C
c.58133-8T>G (n.58133-8T>G)
c.32027-8T>G (n.32027-8T>G)
c.31886-8T>G (n.31886-8T>G)
c.57929-8T>G (n.57929-8T>G)
c.53327-8T>G (n.53327-8T>G)
c.53324-8T>G (n.53324-8T>G)
c.50366-8T>G (n.50366-8T>G)
c.31982-8T>G (n.31982-8T>G)
c.53477-8T>G (n.53477-8T>G)
c.53474-8T>G (n.53474-8T>G)
c.52907-8T>G (n.52907-8T>G)
c.50249-8T>G (n.50249-8T>G)
c.50168-8T>G (n.50168-8T>G)
c.31931-8T>G (n.31931-8T>G)
c.21785-8T>G (n.21785-8T>G)
 gnomAD v4
2g.178593091A>TCA1310540343TTN,TTN-AS1c.51332-8T>A (n.51332-8T>A)
c.32417-8T>A (n.32417-8T>A)
c.32216-8T>A (n.32216-8T>A)
c.31841-8T>A (n.31841-8T>A)
c.59036-8T>A (n.59036-8T>A)
c.54113-8T>A (n.54113-8T>A)
n.597-4505A>T
n.3364+1777A>T
c.58133-8T>A (n.58133-8T>A)
c.32027-8T>A (n.32027-8T>A)
c.31886-8T>A (n.31886-8T>A)
c.57929-8T>A (n.57929-8T>A)
c.53327-8T>A (n.53327-8T>A)
c.53324-8T>A (n.53324-8T>A)
c.50366-8T>A (n.50366-8T>A)
c.31982-8T>A (n.31982-8T>A)
c.53477-8T>A (n.53477-8T>A)
c.53474-8T>A (n.53474-8T>A)
c.52907-8T>A (n.52907-8T>A)
c.50249-8T>A (n.50249-8T>A)
c.50168-8T>A (n.50168-8T>A)
c.31931-8T>A (n.31931-8T>A)
c.21785-8T>A (n.21785-8T>A)
 dbSNP
2g.178593092T>CCA538435608TTN,TTN-AS1c.51332-9A>G (n.51332-9A>G)
c.32417-9A>G (n.32417-9A>G)
c.32216-9A>G (n.32216-9A>G)
c.31841-9A>G (n.31841-9A>G)
c.59036-9A>G (n.59036-9A>G)
c.54113-9A>G (n.54113-9A>G)
n.597-4504T>C
n.3364+1778T>C
c.58133-9A>G (n.58133-9A>G)
c.32027-9A>G (n.32027-9A>G)
c.31886-9A>G (n.31886-9A>G)
c.57929-9A>G (n.57929-9A>G)
c.53327-9A>G (n.53327-9A>G)
c.53324-9A>G (n.53324-9A>G)
c.50366-9A>G (n.50366-9A>G)
c.31982-9A>G (n.31982-9A>G)
c.53477-9A>G (n.53477-9A>G)
c.53474-9A>G (n.53474-9A>G)
c.52907-9A>G (n.52907-9A>G)
c.50249-9A>G (n.50249-9A>G)
c.50168-9A>G (n.50168-9A>G)
c.31931-9A>G (n.31931-9A>G)
c.21785-9A>G (n.21785-9A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178593092T=CA1310540347TTN,TTN-AS1c.51332-9A= (n.51332-9A=)
c.32417-9A= (n.32417-9A=)
c.32216-9A= (n.32216-9A=)
c.31841-9A= (n.31841-9A=)
c.59036-9A= (n.59036-9A=)
c.54113-9A= (n.54113-9A=)
n.597-4504T=
n.3364+1778T=
c.58133-9A= (n.58133-9A=)
c.32027-9A= (n.32027-9A=)
c.31886-9A= (n.31886-9A=)
c.57929-9A= (n.57929-9A=)
c.53327-9A= (n.53327-9A=)
c.53324-9A= (n.53324-9A=)
c.50366-9A= (n.50366-9A=)
c.31982-9A= (n.31982-9A=)
c.53477-9A= (n.53477-9A=)
c.53474-9A= (n.53474-9A=)
c.52907-9A= (n.52907-9A=)
c.50249-9A= (n.50249-9A=)
c.50168-9A= (n.50168-9A=)
c.31931-9A= (n.31931-9A=)
c.21785-9A= (n.21785-9A=)
2g.178593092_178593093delinsTACA1310540346TTN,TTN-AS1c.51332-10_51332-9delinsTA (n.51332-10_51332-9delinsTA)
c.32417-10_32417-9delinsTA (n.32417-10_32417-9delinsTA)
c.32216-10_32216-9delinsTA (n.32216-10_32216-9delinsTA)
c.31841-10_31841-9delinsTA (n.31841-10_31841-9delinsTA)
c.59036-10_59036-9delinsTA (n.59036-10_59036-9delinsTA)
c.54113-10_54113-9delinsTA (n.54113-10_54113-9delinsTA)
n.597-4504_597-4503delinsTA
n.3364+1778_3364+1779delinsTA
c.58133-10_58133-9delinsTA (n.58133-10_58133-9delinsTA)
c.32027-10_32027-9delinsTA (n.32027-10_32027-9delinsTA)
c.31886-10_31886-9delinsTA (n.31886-10_31886-9delinsTA)
c.57929-10_57929-9delinsTA (n.57929-10_57929-9delinsTA)
c.53327-10_53327-9delinsTA (n.53327-10_53327-9delinsTA)
c.53324-10_53324-9delinsTA (n.53324-10_53324-9delinsTA)
c.50366-10_50366-9delinsTA (n.50366-10_50366-9delinsTA)
c.31982-10_31982-9delinsTA (n.31982-10_31982-9delinsTA)
c.53477-10_53477-9delinsTA (n.53477-10_53477-9delinsTA)
c.53474-10_53474-9delinsTA (n.53474-10_53474-9delinsTA)
c.52907-10_52907-9delinsTA (n.52907-10_52907-9delinsTA)
c.50249-10_50249-9delinsTA (n.50249-10_50249-9delinsTA)
c.50168-10_50168-9delinsTA (n.50168-10_50168-9delinsTA)
c.31931-10_31931-9delinsTA (n.31931-10_31931-9delinsTA)
c.21785-10_21785-9delinsTA (n.21785-10_21785-9delinsTA)
2g.178593096delCA1992727TTN,TTN-AS1c.51332-10del (n.51332-10del)
c.32417-10del (n.32417-10del)
c.32216-10del (n.32216-10del)
c.31841-10del (n.31841-10del)
c.59036-10del (n.59036-10del)
c.54113-10del (n.54113-10del)
n.597-4500del
n.3364+1782del
c.58133-10del (n.58133-10del)
c.32027-10del (n.32027-10del)
c.31886-10del (n.31886-10del)
c.57929-10del (n.57929-10del)
c.53327-10del (n.53327-10del)
c.53324-10del (n.53324-10del)
c.50366-10del (n.50366-10del)
c.31982-10del (n.31982-10del)
c.53477-10del (n.53477-10del)
c.53474-10del (n.53474-10del)
c.52907-10del (n.52907-10del)
c.50249-10del (n.50249-10del)
c.50168-10del (n.50168-10del)
c.31931-10del (n.31931-10del)
c.21785-10del (n.21785-10del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178593096A=CA1310540349TTN,TTN-AS1c.51332-13T= (n.51332-13T=)
c.32417-13T= (n.32417-13T=)
c.32216-13T= (n.32216-13T=)
c.31841-13T= (n.31841-13T=)
c.59036-13T= (n.59036-13T=)
c.54113-13T= (n.54113-13T=)
n.597-4500A=
n.3364+1782A=
c.58133-13T= (n.58133-13T=)
c.32027-13T= (n.32027-13T=)
c.31886-13T= (n.31886-13T=)
c.57929-13T= (n.57929-13T=)
c.53327-13T= (n.53327-13T=)
c.53324-13T= (n.53324-13T=)
c.50366-13T= (n.50366-13T=)
c.31982-13T= (n.31982-13T=)
c.53477-13T= (n.53477-13T=)
c.53474-13T= (n.53474-13T=)
c.52907-13T= (n.52907-13T=)
c.50249-13T= (n.50249-13T=)
c.50168-13T= (n.50168-13T=)
c.31931-13T= (n.31931-13T=)
c.21785-13T= (n.21785-13T=)
2g.178593096A>GCA538435609TTN,TTN-AS1c.51332-13T>C (n.51332-13T>C)
c.32417-13T>C (n.32417-13T>C)
c.32216-13T>C (n.32216-13T>C)
c.31841-13T>C (n.31841-13T>C)
c.59036-13T>C (n.59036-13T>C)
c.54113-13T>C (n.54113-13T>C)
n.597-4500A>G
n.3364+1782A>G
c.58133-13T>C (n.58133-13T>C)
c.32027-13T>C (n.32027-13T>C)
c.31886-13T>C (n.31886-13T>C)
c.57929-13T>C (n.57929-13T>C)
c.53327-13T>C (n.53327-13T>C)
c.53324-13T>C (n.53324-13T>C)
c.50366-13T>C (n.50366-13T>C)
c.31982-13T>C (n.31982-13T>C)
c.53477-13T>C (n.53477-13T>C)
c.53474-13T>C (n.53474-13T>C)
c.52907-13T>C (n.52907-13T>C)
c.50249-13T>C (n.50249-13T>C)
c.50168-13T>C (n.50168-13T>C)
c.31931-13T>C (n.31931-13T>C)
c.21785-13T>C (n.21785-13T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178593097G>ACA2662130843TTN,TTN-AS1c.51332-14C>T (n.51332-14C>T)
c.32417-14C>T (n.32417-14C>T)
c.32216-14C>T (n.32216-14C>T)
c.31841-14C>T (n.31841-14C>T)
c.59036-14C>T (n.59036-14C>T)
c.54113-14C>T (n.54113-14C>T)
n.597-4499G>A
n.3364+1783G>A
c.58133-14C>T (n.58133-14C>T)
c.32027-14C>T (n.32027-14C>T)
c.31886-14C>T (n.31886-14C>T)
c.57929-14C>T (n.57929-14C>T)
c.53327-14C>T (n.53327-14C>T)
c.53324-14C>T (n.53324-14C>T)
c.50366-14C>T (n.50366-14C>T)
c.31982-14C>T (n.31982-14C>T)
c.53477-14C>T (n.53477-14C>T)
c.53474-14C>T (n.53474-14C>T)
c.52907-14C>T (n.52907-14C>T)
c.50249-14C>T (n.50249-14C>T)
c.50168-14C>T (n.50168-14C>T)
c.31931-14C>T (n.31931-14C>T)
c.21785-14C>T (n.21785-14C>T)
 gnomAD v4
2g.178593097G>CCA2662130845TTN,TTN-AS1c.51332-14C>G (n.51332-14C>G)
c.32417-14C>G (n.32417-14C>G)
c.32216-14C>G (n.32216-14C>G)
c.31841-14C>G (n.31841-14C>G)
c.59036-14C>G (n.59036-14C>G)
c.54113-14C>G (n.54113-14C>G)
n.597-4499G>C
n.3364+1783G>C
c.58133-14C>G (n.58133-14C>G)
c.32027-14C>G (n.32027-14C>G)
c.31886-14C>G (n.31886-14C>G)
c.57929-14C>G (n.57929-14C>G)
c.53327-14C>G (n.53327-14C>G)
c.53324-14C>G (n.53324-14C>G)
c.50366-14C>G (n.50366-14C>G)
c.31982-14C>G (n.31982-14C>G)
c.53477-14C>G (n.53477-14C>G)
c.53474-14C>G (n.53474-14C>G)
c.52907-14C>G (n.52907-14C>G)
c.50249-14C>G (n.50249-14C>G)
c.50168-14C>G (n.50168-14C>G)
c.31931-14C>G (n.31931-14C>G)
c.21785-14C>G (n.21785-14C>G)
 gnomAD v4
2g.178593097G=CA1310540350TTN,TTN-AS1c.51332-14C= (n.51332-14C=)
c.32417-14C= (n.32417-14C=)
c.32216-14C= (n.32216-14C=)
c.31841-14C= (n.31841-14C=)
c.59036-14C= (n.59036-14C=)
c.54113-14C= (n.54113-14C=)
n.597-4499G=
n.3364+1783G=
c.58133-14C= (n.58133-14C=)
c.32027-14C= (n.32027-14C=)
c.31886-14C= (n.31886-14C=)
c.57929-14C= (n.57929-14C=)
c.53327-14C= (n.53327-14C=)
c.53324-14C= (n.53324-14C=)
c.50366-14C= (n.50366-14C=)
c.31982-14C= (n.31982-14C=)
c.53477-14C= (n.53477-14C=)
c.53474-14C= (n.53474-14C=)
c.52907-14C= (n.52907-14C=)
c.50249-14C= (n.50249-14C=)
c.50168-14C= (n.50168-14C=)
c.31931-14C= (n.31931-14C=)
c.21785-14C= (n.21785-14C=)
2g.178593097G>TCA1992728TTN,TTN-AS1c.51332-14C>A (n.51332-14C>A)
c.32417-14C>A (n.32417-14C>A)
c.32216-14C>A (n.32216-14C>A)
c.31841-14C>A (n.31841-14C>A)
c.59036-14C>A (n.59036-14C>A)
c.54113-14C>A (n.54113-14C>A)
n.597-4499G>T
n.3364+1783G>T
c.58133-14C>A (n.58133-14C>A)
c.32027-14C>A (n.32027-14C>A)
c.31886-14C>A (n.31886-14C>A)
c.57929-14C>A (n.57929-14C>A)
c.53327-14C>A (n.53327-14C>A)
c.53324-14C>A (n.53324-14C>A)
c.50366-14C>A (n.50366-14C>A)
c.31982-14C>A (n.31982-14C>A)
c.53477-14C>A (n.53477-14C>A)
c.53474-14C>A (n.53474-14C>A)
c.52907-14C>A (n.52907-14C>A)
c.50249-14C>A (n.50249-14C>A)
c.50168-14C>A (n.50168-14C>A)
c.31931-14C>A (n.31931-14C>A)
c.21785-14C>A (n.21785-14C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593098T>ACA2662130846TTN,TTN-AS1c.51332-15A>T (n.51332-15A>T)
c.32417-15A>T (n.32417-15A>T)
c.32216-15A>T (n.32216-15A>T)
c.31841-15A>T (n.31841-15A>T)
c.59036-15A>T (n.59036-15A>T)
c.54113-15A>T (n.54113-15A>T)
n.597-4498T>A
n.3364+1784T>A
c.58133-15A>T (n.58133-15A>T)
c.32027-15A>T (n.32027-15A>T)
c.31886-15A>T (n.31886-15A>T)
c.57929-15A>T (n.57929-15A>T)
c.53327-15A>T (n.53327-15A>T)
c.53324-15A>T (n.53324-15A>T)
c.50366-15A>T (n.50366-15A>T)
c.31982-15A>T (n.31982-15A>T)
c.53477-15A>T (n.53477-15A>T)
c.53474-15A>T (n.53474-15A>T)
c.52907-15A>T (n.52907-15A>T)
c.50249-15A>T (n.50249-15A>T)
c.50168-15A>T (n.50168-15A>T)
c.31931-15A>T (n.31931-15A>T)
c.21785-15A>T (n.21785-15A>T)
 gnomAD v4
2g.178593098T>CCA2753331140TTN,TTN-AS1c.51332-15A>G (n.51332-15A>G)
c.32417-15A>G (n.32417-15A>G)
c.32216-15A>G (n.32216-15A>G)
c.31841-15A>G (n.31841-15A>G)
c.59036-15A>G (n.59036-15A>G)
c.54113-15A>G (n.54113-15A>G)
n.597-4498T>C
n.3364+1784T>C
c.58133-15A>G (n.58133-15A>G)
c.32027-15A>G (n.32027-15A>G)
c.31886-15A>G (n.31886-15A>G)
c.57929-15A>G (n.57929-15A>G)
c.53327-15A>G (n.53327-15A>G)
c.53324-15A>G (n.53324-15A>G)
c.50366-15A>G (n.50366-15A>G)
c.31982-15A>G (n.31982-15A>G)
c.53477-15A>G (n.53477-15A>G)
c.53474-15A>G (n.53474-15A>G)
c.52907-15A>G (n.52907-15A>G)
c.50249-15A>G (n.50249-15A>G)
c.50168-15A>G (n.50168-15A>G)
c.31931-15A>G (n.31931-15A>G)
c.21785-15A>G (n.21785-15A>G)
2g.178593098_178593101delinsTAAACA1310540352TTN,TTN-AS1c.51332-18_51332-15delinsTTTA (n.51332-18_51332-15delinsTTTA)
c.32417-18_32417-15delinsTTTA (n.32417-18_32417-15delinsTTTA)
c.32216-18_32216-15delinsTTTA (n.32216-18_32216-15delinsTTTA)
c.31841-18_31841-15delinsTTTA (n.31841-18_31841-15delinsTTTA)
c.59036-18_59036-15delinsTTTA (n.59036-18_59036-15delinsTTTA)
c.54113-18_54113-15delinsTTTA (n.54113-18_54113-15delinsTTTA)
n.597-4498_597-4495delinsTAAA
n.3364+1784_3364+1787delinsTAAA
c.58133-18_58133-15delinsTTTA (n.58133-18_58133-15delinsTTTA)
c.32027-18_32027-15delinsTTTA (n.32027-18_32027-15delinsTTTA)
c.31886-18_31886-15delinsTTTA (n.31886-18_31886-15delinsTTTA)
c.57929-18_57929-15delinsTTTA (n.57929-18_57929-15delinsTTTA)
c.53327-18_53327-15delinsTTTA (n.53327-18_53327-15delinsTTTA)
c.53324-18_53324-15delinsTTTA (n.53324-18_53324-15delinsTTTA)
c.50366-18_50366-15delinsTTTA (n.50366-18_50366-15delinsTTTA)
c.31982-18_31982-15delinsTTTA (n.31982-18_31982-15delinsTTTA)
c.53477-18_53477-15delinsTTTA (n.53477-18_53477-15delinsTTTA)
c.53474-18_53474-15delinsTTTA (n.53474-18_53474-15delinsTTTA)
c.52907-18_52907-15delinsTTTA (n.52907-18_52907-15delinsTTTA)
c.50249-18_50249-15delinsTTTA (n.50249-18_50249-15delinsTTTA)
c.50168-18_50168-15delinsTTTA (n.50168-18_50168-15delinsTTTA)
c.31931-18_31931-15delinsTTTA (n.31931-18_31931-15delinsTTTA)
c.21785-18_21785-15delinsTTTA (n.21785-18_21785-15delinsTTTA)
2g.178593099A>GCA2662130849TTN,TTN-AS1c.51332-16T>C (n.51332-16T>C)
c.32417-16T>C (n.32417-16T>C)
c.32216-16T>C (n.32216-16T>C)
c.31841-16T>C (n.31841-16T>C)
c.59036-16T>C (n.59036-16T>C)
c.54113-16T>C (n.54113-16T>C)
n.597-4497A>G
n.3364+1785A>G
c.58133-16T>C (n.58133-16T>C)
c.32027-16T>C (n.32027-16T>C)
c.31886-16T>C (n.31886-16T>C)
c.57929-16T>C (n.57929-16T>C)
c.53327-16T>C (n.53327-16T>C)
c.53324-16T>C (n.53324-16T>C)
c.50366-16T>C (n.50366-16T>C)
c.31982-16T>C (n.31982-16T>C)
c.53477-16T>C (n.53477-16T>C)
c.53474-16T>C (n.53474-16T>C)
c.52907-16T>C (n.52907-16T>C)
c.50249-16T>C (n.50249-16T>C)
c.50168-16T>C (n.50168-16T>C)
c.31931-16T>C (n.31931-16T>C)
c.21785-16T>C (n.21785-16T>C)
 gnomAD v4
2g.178593102_178593104delCA538435610TTN,TTN-AS1c.51332-18_51332-16del (n.51332-18_51332-16del)
c.32417-18_32417-16del (n.32417-18_32417-16del)
c.32216-18_32216-16del (n.32216-18_32216-16del)
c.31841-18_31841-16del (n.31841-18_31841-16del)
c.59036-18_59036-16del (n.59036-18_59036-16del)
c.54113-18_54113-16del (n.54113-18_54113-16del)
n.597-4494_597-4492del
n.3364+1788_3364+1790del
c.58133-18_58133-16del (n.58133-18_58133-16del)
c.32027-18_32027-16del (n.32027-18_32027-16del)
c.31886-18_31886-16del (n.31886-18_31886-16del)
c.57929-18_57929-16del (n.57929-18_57929-16del)
c.53327-18_53327-16del (n.53327-18_53327-16del)
c.53324-18_53324-16del (n.53324-18_53324-16del)
c.50366-18_50366-16del (n.50366-18_50366-16del)
c.31982-18_31982-16del (n.31982-18_31982-16del)
c.53477-18_53477-16del (n.53477-18_53477-16del)
c.53474-18_53474-16del (n.53474-18_53474-16del)
c.52907-18_52907-16del (n.52907-18_52907-16del)
c.50249-18_50249-16del (n.50249-18_50249-16del)
c.50168-18_50168-16del (n.50168-18_50168-16del)
c.31931-18_31931-16del (n.31931-18_31931-16del)
c.21785-18_21785-16del (n.21785-18_21785-16del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178593100A>CCA2662130851TTN,TTN-AS1c.51332-17T>G (n.51332-17T>G)
c.32417-17T>G (n.32417-17T>G)
c.32216-17T>G (n.32216-17T>G)
c.31841-17T>G (n.31841-17T>G)
c.59036-17T>G (n.59036-17T>G)
c.54113-17T>G (n.54113-17T>G)
n.597-4496A>C
n.3364+1786A>C
c.58133-17T>G (n.58133-17T>G)
c.32027-17T>G (n.32027-17T>G)
c.31886-17T>G (n.31886-17T>G)
c.57929-17T>G (n.57929-17T>G)
c.53327-17T>G (n.53327-17T>G)
c.53324-17T>G (n.53324-17T>G)
c.50366-17T>G (n.50366-17T>G)
c.31982-17T>G (n.31982-17T>G)
c.53477-17T>G (n.53477-17T>G)
c.53474-17T>G (n.53474-17T>G)
c.52907-17T>G (n.52907-17T>G)
c.50249-17T>G (n.50249-17T>G)
c.50168-17T>G (n.50168-17T>G)
c.31931-17T>G (n.31931-17T>G)
c.21785-17T>G (n.21785-17T>G)
 gnomAD v4
2g.178593101A=CA1310540353TTN,TTN-AS1c.51332-18T= (n.51332-18T=)
c.32417-18T= (n.32417-18T=)
c.32216-18T= (n.32216-18T=)
c.31841-18T= (n.31841-18T=)
c.59036-18T= (n.59036-18T=)
c.54113-18T= (n.54113-18T=)
n.597-4495A=
n.3364+1787A=
c.58133-18T= (n.58133-18T=)
c.32027-18T= (n.32027-18T=)
c.31886-18T= (n.31886-18T=)
c.57929-18T= (n.57929-18T=)
c.53327-18T= (n.53327-18T=)
c.53324-18T= (n.53324-18T=)
c.50366-18T= (n.50366-18T=)
c.31982-18T= (n.31982-18T=)
c.53477-18T= (n.53477-18T=)
c.53474-18T= (n.53474-18T=)
c.52907-18T= (n.52907-18T=)
c.50249-18T= (n.50249-18T=)
c.50168-18T= (n.50168-18T=)
c.31931-18T= (n.31931-18T=)
c.21785-18T= (n.21785-18T=)
2g.178593101A>CCA1310540354TTN,TTN-AS1c.51332-18T>G (n.51332-18T>G)
c.32417-18T>G (n.32417-18T>G)
c.32216-18T>G (n.32216-18T>G)
c.31841-18T>G (n.31841-18T>G)
c.59036-18T>G (n.59036-18T>G)
c.54113-18T>G (n.54113-18T>G)
n.597-4495A>C
n.3364+1787A>C
c.58133-18T>G (n.58133-18T>G)
c.32027-18T>G (n.32027-18T>G)
c.31886-18T>G (n.31886-18T>G)
c.57929-18T>G (n.57929-18T>G)
c.53327-18T>G (n.53327-18T>G)
c.53324-18T>G (n.53324-18T>G)
c.50366-18T>G (n.50366-18T>G)
c.31982-18T>G (n.31982-18T>G)
c.53477-18T>G (n.53477-18T>G)
c.53474-18T>G (n.53474-18T>G)
c.52907-18T>G (n.52907-18T>G)
c.50249-18T>G (n.50249-18T>G)
c.50168-18T>G (n.50168-18T>G)
c.31931-18T>G (n.31931-18T>G)
c.21785-18T>G (n.21785-18T>G)
 dbSNP
2g.178593101A>GCA2662130852TTN,TTN-AS1c.51332-18T>C (n.51332-18T>C)
c.32417-18T>C (n.32417-18T>C)
c.32216-18T>C (n.32216-18T>C)
c.31841-18T>C (n.31841-18T>C)
c.59036-18T>C (n.59036-18T>C)
c.54113-18T>C (n.54113-18T>C)
n.597-4495A>G
n.3364+1787A>G
c.58133-18T>C (n.58133-18T>C)
c.32027-18T>C (n.32027-18T>C)
c.31886-18T>C (n.31886-18T>C)
c.57929-18T>C (n.57929-18T>C)
c.53327-18T>C (n.53327-18T>C)
c.53324-18T>C (n.53324-18T>C)
c.50366-18T>C (n.50366-18T>C)
c.31982-18T>C (n.31982-18T>C)
c.53477-18T>C (n.53477-18T>C)
c.53474-18T>C (n.53474-18T>C)
c.52907-18T>C (n.52907-18T>C)
c.50249-18T>C (n.50249-18T>C)
c.50168-18T>C (n.50168-18T>C)
c.31931-18T>C (n.31931-18T>C)
c.21785-18T>C (n.21785-18T>C)
 gnomAD v4
2g.178593101_178593102insCACACCCAACACCA2753331141TTN,TTN-AS1c.51332-19_51332-18insGTGTTGGGTGTG (n.51332-19_51332-18insGTGTTGGGTGTG)
c.32417-19_32417-18insGTGTTGGGTGTG (n.32417-19_32417-18insGTGTTGGGTGTG)
c.32216-19_32216-18insGTGTTGGGTGTG (n.32216-19_32216-18insGTGTTGGGTGTG)
c.31841-19_31841-18insGTGTTGGGTGTG (n.31841-19_31841-18insGTGTTGGGTGTG)
c.59036-19_59036-18insGTGTTGGGTGTG (n.59036-19_59036-18insGTGTTGGGTGTG)
c.54113-19_54113-18insGTGTTGGGTGTG (n.54113-19_54113-18insGTGTTGGGTGTG)
n.597-4495_597-4494insCACACCCAACAC
n.3364+1787_3364+1788insCACACCCAACAC
c.58133-19_58133-18insGTGTTGGGTGTG (n.58133-19_58133-18insGTGTTGGGTGTG)
c.32027-19_32027-18insGTGTTGGGTGTG (n.32027-19_32027-18insGTGTTGGGTGTG)
c.31886-19_31886-18insGTGTTGGGTGTG (n.31886-19_31886-18insGTGTTGGGTGTG)
c.57929-19_57929-18insGTGTTGGGTGTG (n.57929-19_57929-18insGTGTTGGGTGTG)
c.53327-19_53327-18insGTGTTGGGTGTG (n.53327-19_53327-18insGTGTTGGGTGTG)
c.53324-19_53324-18insGTGTTGGGTGTG (n.53324-19_53324-18insGTGTTGGGTGTG)
c.50366-19_50366-18insGTGTTGGGTGTG (n.50366-19_50366-18insGTGTTGGGTGTG)
c.31982-19_31982-18insGTGTTGGGTGTG (n.31982-19_31982-18insGTGTTGGGTGTG)
c.53477-19_53477-18insGTGTTGGGTGTG (n.53477-19_53477-18insGTGTTGGGTGTG)
c.53474-19_53474-18insGTGTTGGGTGTG (n.53474-19_53474-18insGTGTTGGGTGTG)
c.52907-19_52907-18insGTGTTGGGTGTG (n.52907-19_52907-18insGTGTTGGGTGTG)
c.50249-19_50249-18insGTGTTGGGTGTG (n.50249-19_50249-18insGTGTTGGGTGTG)
c.50168-19_50168-18insGTGTTGGGTGTG (n.50168-19_50168-18insGTGTTGGGTGTG)
c.31931-19_31931-18insGTGTTGGGTGTG (n.31931-19_31931-18insGTGTTGGGTGTG)
c.21785-19_21785-18insGTGTTGGGTGTG (n.21785-19_21785-18insGTGTTGGGTGTG)
2g.178593102A>CCA2662130853TTN,TTN-AS1c.51332-19T>G (n.51332-19T>G)
c.32417-19T>G (n.32417-19T>G)
c.32216-19T>G (n.32216-19T>G)
c.31841-19T>G (n.31841-19T>G)
c.59036-19T>G (n.59036-19T>G)
c.54113-19T>G (n.54113-19T>G)
n.597-4494A>C
n.3364+1788A>C
c.58133-19T>G (n.58133-19T>G)
c.32027-19T>G (n.32027-19T>G)
c.31886-19T>G (n.31886-19T>G)
c.57929-19T>G (n.57929-19T>G)
c.53327-19T>G (n.53327-19T>G)
c.53324-19T>G (n.53324-19T>G)
c.50366-19T>G (n.50366-19T>G)
c.31982-19T>G (n.31982-19T>G)
c.53477-19T>G (n.53477-19T>G)
c.53474-19T>G (n.53474-19T>G)
c.52907-19T>G (n.52907-19T>G)
c.50249-19T>G (n.50249-19T>G)
c.50168-19T>G (n.50168-19T>G)
c.31931-19T>G (n.31931-19T>G)
c.21785-19T>G (n.21785-19T>G)
 gnomAD v4
2g.178593102A>GCA2580064892TTN,TTN-AS1c.51332-19T>C (n.51332-19T>C)
c.32417-19T>C (n.32417-19T>C)
c.32216-19T>C (n.32216-19T>C)
c.31841-19T>C (n.31841-19T>C)
c.59036-19T>C (n.59036-19T>C)
c.54113-19T>C (n.54113-19T>C)
n.597-4494A>G
n.3364+1788A>G
c.58133-19T>C (n.58133-19T>C)
c.32027-19T>C (n.32027-19T>C)
c.31886-19T>C (n.31886-19T>C)
c.57929-19T>C (n.57929-19T>C)
c.53327-19T>C (n.53327-19T>C)
c.53324-19T>C (n.53324-19T>C)
c.50366-19T>C (n.50366-19T>C)
c.31982-19T>C (n.31982-19T>C)
c.53477-19T>C (n.53477-19T>C)
c.53474-19T>C (n.53474-19T>C)
c.52907-19T>C (n.52907-19T>C)
c.50249-19T>C (n.50249-19T>C)
c.50168-19T>C (n.50168-19T>C)
c.31931-19T>C (n.31931-19T>C)
c.21785-19T>C (n.21785-19T>C)
 ClinVar
2g.178593105C>ACA761290850TTN,TTN-AS1c.51332-22G>T (n.51332-22G>T)
c.32417-22G>T (n.32417-22G>T)
c.32216-22G>T (n.32216-22G>T)
c.31841-22G>T (n.31841-22G>T)
c.59036-22G>T (n.59036-22G>T)
c.54113-22G>T (n.54113-22G>T)
n.597-4491C>A
n.3364+1791C>A
c.58133-22G>T (n.58133-22G>T)
c.32027-22G>T (n.32027-22G>T)
c.31886-22G>T (n.31886-22G>T)
c.57929-22G>T (n.57929-22G>T)
c.53327-22G>T (n.53327-22G>T)
c.53324-22G>T (n.53324-22G>T)
c.50366-22G>T (n.50366-22G>T)
c.31982-22G>T (n.31982-22G>T)
c.53477-22G>T (n.53477-22G>T)
c.53474-22G>T (n.53474-22G>T)
c.52907-22G>T (n.52907-22G>T)
c.50249-22G>T (n.50249-22G>T)
c.50168-22G>T (n.50168-22G>T)
c.31931-22G>T (n.31931-22G>T)
c.21785-22G>T (n.21785-22G>T)
 dbSNP gnomAD v4
2g.178593105C=CA1310540355TTN,TTN-AS1c.51332-22G= (n.51332-22G=)
c.32417-22G= (n.32417-22G=)
c.32216-22G= (n.32216-22G=)
c.31841-22G= (n.31841-22G=)
c.59036-22G= (n.59036-22G=)
c.54113-22G= (n.54113-22G=)
n.597-4491C=
n.3364+1791C=
c.58133-22G= (n.58133-22G=)
c.32027-22G= (n.32027-22G=)
c.31886-22G= (n.31886-22G=)
c.57929-22G= (n.57929-22G=)
c.53327-22G= (n.53327-22G=)
c.53324-22G= (n.53324-22G=)
c.50366-22G= (n.50366-22G=)
c.31982-22G= (n.31982-22G=)
c.53477-22G= (n.53477-22G=)
c.53474-22G= (n.53474-22G=)
c.52907-22G= (n.52907-22G=)
c.50249-22G= (n.50249-22G=)
c.50168-22G= (n.50168-22G=)
c.31931-22G= (n.31931-22G=)
c.21785-22G= (n.21785-22G=)
2g.178593105C>TCA1992729TTN,TTN-AS1c.51332-22G>A (n.51332-22G>A)
c.32417-22G>A (n.32417-22G>A)
c.32216-22G>A (n.32216-22G>A)
c.31841-22G>A (n.31841-22G>A)
c.59036-22G>A (n.59036-22G>A)
c.54113-22G>A (n.54113-22G>A)
n.597-4491C>T
n.3364+1791C>T
c.58133-22G>A (n.58133-22G>A)
c.32027-22G>A (n.32027-22G>A)
c.31886-22G>A (n.31886-22G>A)
c.57929-22G>A (n.57929-22G>A)
c.53327-22G>A (n.53327-22G>A)
c.53324-22G>A (n.53324-22G>A)
c.50366-22G>A (n.50366-22G>A)
c.31982-22G>A (n.31982-22G>A)
c.53477-22G>A (n.53477-22G>A)
c.53474-22G>A (n.53474-22G>A)
c.52907-22G>A (n.52907-22G>A)
c.50249-22G>A (n.50249-22G>A)
c.50168-22G>A (n.50168-22G>A)
c.31931-22G>A (n.31931-22G>A)
c.21785-22G>A (n.21785-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593106G>ACA1992730TTN,TTN-AS1c.51332-23C>T (n.51332-23C>T)
c.32417-23C>T (n.32417-23C>T)
c.32216-23C>T (n.32216-23C>T)
c.31841-23C>T (n.31841-23C>T)
c.59036-23C>T (n.59036-23C>T)
c.54113-23C>T (n.54113-23C>T)
n.597-4490G>A
n.3364+1792G>A
c.58133-23C>T (n.58133-23C>T)
c.32027-23C>T (n.32027-23C>T)
c.31886-23C>T (n.31886-23C>T)
c.57929-23C>T (n.57929-23C>T)
c.53327-23C>T (n.53327-23C>T)
c.53324-23C>T (n.53324-23C>T)
c.50366-23C>T (n.50366-23C>T)
c.31982-23C>T (n.31982-23C>T)
c.53477-23C>T (n.53477-23C>T)
c.53474-23C>T (n.53474-23C>T)
c.52907-23C>T (n.52907-23C>T)
c.50249-23C>T (n.50249-23C>T)
c.50168-23C>T (n.50168-23C>T)
c.31931-23C>T (n.31931-23C>T)
c.21785-23C>T (n.21785-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593106G=CA1310540357TTN,TTN-AS1c.51332-23C= (n.51332-23C=)
c.32417-23C= (n.32417-23C=)
c.32216-23C= (n.32216-23C=)
c.31841-23C= (n.31841-23C=)
c.59036-23C= (n.59036-23C=)
c.54113-23C= (n.54113-23C=)
n.597-4490G=
n.3364+1792G=
c.58133-23C= (n.58133-23C=)
c.32027-23C= (n.32027-23C=)
c.31886-23C= (n.31886-23C=)
c.57929-23C= (n.57929-23C=)
c.53327-23C= (n.53327-23C=)
c.53324-23C= (n.53324-23C=)
c.50366-23C= (n.50366-23C=)
c.31982-23C= (n.31982-23C=)
c.53477-23C= (n.53477-23C=)
c.53474-23C= (n.53474-23C=)
c.52907-23C= (n.52907-23C=)
c.50249-23C= (n.50249-23C=)
c.50168-23C= (n.50168-23C=)
c.31931-23C= (n.31931-23C=)
c.21785-23C= (n.21785-23C=)
2g.178593111A=CA1310540358TTN,TTN-AS1c.51332-28T= (n.51332-28T=)
c.32417-28T= (n.32417-28T=)
c.32216-28T= (n.32216-28T=)
c.31841-28T= (n.31841-28T=)
c.59036-28T= (n.59036-28T=)
c.54113-28T= (n.54113-28T=)
n.597-4485A=
n.3364+1797A=
c.58133-28T= (n.58133-28T=)
c.32027-28T= (n.32027-28T=)
c.31886-28T= (n.31886-28T=)
c.57929-28T= (n.57929-28T=)
c.53327-28T= (n.53327-28T=)
c.53324-28T= (n.53324-28T=)
c.50366-28T= (n.50366-28T=)
c.31982-28T= (n.31982-28T=)
c.53477-28T= (n.53477-28T=)
c.53474-28T= (n.53474-28T=)
c.52907-28T= (n.52907-28T=)
c.50249-28T= (n.50249-28T=)
c.50168-28T= (n.50168-28T=)
c.31931-28T= (n.31931-28T=)
c.21785-28T= (n.21785-28T=)
2g.178593111A>TCA60971135TTN,TTN-AS1c.51332-28T>A (n.51332-28T>A)
c.32417-28T>A (n.32417-28T>A)
c.32216-28T>A (n.32216-28T>A)
c.31841-28T>A (n.31841-28T>A)
c.59036-28T>A (n.59036-28T>A)
c.54113-28T>A (n.54113-28T>A)
n.597-4485A>T
n.3364+1797A>T
c.58133-28T>A (n.58133-28T>A)
c.32027-28T>A (n.32027-28T>A)
c.31886-28T>A (n.31886-28T>A)
c.57929-28T>A (n.57929-28T>A)
c.53327-28T>A (n.53327-28T>A)
c.53324-28T>A (n.53324-28T>A)
c.50366-28T>A (n.50366-28T>A)
c.31982-28T>A (n.31982-28T>A)
c.53477-28T>A (n.53477-28T>A)
c.53474-28T>A (n.53474-28T>A)
c.52907-28T>A (n.52907-28T>A)
c.50249-28T>A (n.50249-28T>A)
c.50168-28T>A (n.50168-28T>A)
c.31931-28T>A (n.31931-28T>A)
c.21785-28T>A (n.21785-28T>A)
 dbSNP
2g.178593112G>ACA2753331149TTN,TTN-AS1c.51332-29C>T (n.51332-29C>T)
c.32417-29C>T (n.32417-29C>T)
c.32216-29C>T (n.32216-29C>T)
c.31841-29C>T (n.31841-29C>T)
c.59036-29C>T (n.59036-29C>T)
c.54113-29C>T (n.54113-29C>T)
n.597-4484G>A
n.3364+1798G>A
c.58133-29C>T (n.58133-29C>T)
c.32027-29C>T (n.32027-29C>T)
c.31886-29C>T (n.31886-29C>T)
c.57929-29C>T (n.57929-29C>T)
c.53327-29C>T (n.53327-29C>T)
c.53324-29C>T (n.53324-29C>T)
c.50366-29C>T (n.50366-29C>T)
c.31982-29C>T (n.31982-29C>T)
c.53477-29C>T (n.53477-29C>T)
c.53474-29C>T (n.53474-29C>T)
c.52907-29C>T (n.52907-29C>T)
c.50249-29C>T (n.50249-29C>T)
c.50168-29C>T (n.50168-29C>T)
c.31931-29C>T (n.31931-29C>T)
c.21785-29C>T (n.21785-29C>T)
2g.178593112G>TCA2662130856TTN,TTN-AS1c.51332-29C>A (n.51332-29C>A)
c.32417-29C>A (n.32417-29C>A)
c.32216-29C>A (n.32216-29C>A)
c.31841-29C>A (n.31841-29C>A)
c.59036-29C>A (n.59036-29C>A)
c.54113-29C>A (n.54113-29C>A)
n.597-4484G>T
n.3364+1798G>T
c.58133-29C>A (n.58133-29C>A)
c.32027-29C>A (n.32027-29C>A)
c.31886-29C>A (n.31886-29C>A)
c.57929-29C>A (n.57929-29C>A)
c.53327-29C>A (n.53327-29C>A)
c.53324-29C>A (n.53324-29C>A)
c.50366-29C>A (n.50366-29C>A)
c.31982-29C>A (n.31982-29C>A)
c.53477-29C>A (n.53477-29C>A)
c.53474-29C>A (n.53474-29C>A)
c.52907-29C>A (n.52907-29C>A)
c.50249-29C>A (n.50249-29C>A)
c.50168-29C>A (n.50168-29C>A)
c.31931-29C>A (n.31931-29C>A)
c.21785-29C>A (n.21785-29C>A)
 gnomAD v4
2g.178593114A>CCA2662130857TTN,TTN-AS1c.51332-31T>G (n.51332-31T>G)
c.32417-31T>G (n.32417-31T>G)
c.32216-31T>G (n.32216-31T>G)
c.31841-31T>G (n.31841-31T>G)
c.59036-31T>G (n.59036-31T>G)
c.54113-31T>G (n.54113-31T>G)
n.597-4482A>C
n.3364+1800A>C
c.58133-31T>G (n.58133-31T>G)
c.32027-31T>G (n.32027-31T>G)
c.31886-31T>G (n.31886-31T>G)
c.57929-31T>G (n.57929-31T>G)
c.53327-31T>G (n.53327-31T>G)
c.53324-31T>G (n.53324-31T>G)
c.50366-31T>G (n.50366-31T>G)
c.31982-31T>G (n.31982-31T>G)
c.53477-31T>G (n.53477-31T>G)
c.53474-31T>G (n.53474-31T>G)
c.52907-31T>G (n.52907-31T>G)
c.50249-31T>G (n.50249-31T>G)
c.50168-31T>G (n.50168-31T>G)
c.31931-31T>G (n.31931-31T>G)
c.21785-31T>G (n.21785-31T>G)
 gnomAD v4
2g.178593115T>ACA1039713416TTN,TTN-AS1c.51332-32A>T (n.51332-32A>T)
c.32417-32A>T (n.32417-32A>T)
c.32216-32A>T (n.32216-32A>T)
c.31841-32A>T (n.31841-32A>T)
c.59036-32A>T (n.59036-32A>T)
c.54113-32A>T (n.54113-32A>T)
n.597-4481T>A
n.3364+1801T>A
c.58133-32A>T (n.58133-32A>T)
c.32027-32A>T (n.32027-32A>T)
c.31886-32A>T (n.31886-32A>T)
c.57929-32A>T (n.57929-32A>T)
c.53327-32A>T (n.53327-32A>T)
c.53324-32A>T (n.53324-32A>T)
c.50366-32A>T (n.50366-32A>T)
c.31982-32A>T (n.31982-32A>T)
c.53477-32A>T (n.53477-32A>T)
c.53474-32A>T (n.53474-32A>T)
c.52907-32A>T (n.52907-32A>T)
c.50249-32A>T (n.50249-32A>T)
c.50168-32A>T (n.50168-32A>T)
c.31931-32A>T (n.31931-32A>T)
c.21785-32A>T (n.21785-32A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178593115T=CA1310540359TTN,TTN-AS1c.51332-32A= (n.51332-32A=)
c.32417-32A= (n.32417-32A=)
c.32216-32A= (n.32216-32A=)
c.31841-32A= (n.31841-32A=)
c.59036-32A= (n.59036-32A=)
c.54113-32A= (n.54113-32A=)
n.597-4481T=
n.3364+1801T=
c.58133-32A= (n.58133-32A=)
c.32027-32A= (n.32027-32A=)
c.31886-32A= (n.31886-32A=)
c.57929-32A= (n.57929-32A=)
c.53327-32A= (n.53327-32A=)
c.53324-32A= (n.53324-32A=)
c.50366-32A= (n.50366-32A=)
c.31982-32A= (n.31982-32A=)
c.53477-32A= (n.53477-32A=)
c.53474-32A= (n.53474-32A=)
c.52907-32A= (n.52907-32A=)
c.50249-32A= (n.50249-32A=)
c.50168-32A= (n.50168-32A=)
c.31931-32A= (n.31931-32A=)
c.21785-32A= (n.21785-32A=)
2g.178593117T>CCA538435611TTN,TTN-AS1c.51332-34A>G (n.51332-34A>G)
c.32417-34A>G (n.32417-34A>G)
c.32216-34A>G (n.32216-34A>G)
c.31841-34A>G (n.31841-34A>G)
c.59036-34A>G (n.59036-34A>G)
c.54113-34A>G (n.54113-34A>G)
n.597-4479T>C
n.3364+1803T>C
c.58133-34A>G (n.58133-34A>G)
c.32027-34A>G (n.32027-34A>G)
c.31886-34A>G (n.31886-34A>G)
c.57929-34A>G (n.57929-34A>G)
c.53327-34A>G (n.53327-34A>G)
c.53324-34A>G (n.53324-34A>G)
c.50366-34A>G (n.50366-34A>G)
c.31982-34A>G (n.31982-34A>G)
c.53477-34A>G (n.53477-34A>G)
c.53474-34A>G (n.53474-34A>G)
c.52907-34A>G (n.52907-34A>G)
c.50249-34A>G (n.50249-34A>G)
c.50168-34A>G (n.50168-34A>G)
c.31931-34A>G (n.31931-34A>G)
c.21785-34A>G (n.21785-34A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178593117T=CA1310540360TTN,TTN-AS1c.51332-34A= (n.51332-34A=)
c.32417-34A= (n.32417-34A=)
c.32216-34A= (n.32216-34A=)
c.31841-34A= (n.31841-34A=)
c.59036-34A= (n.59036-34A=)
c.54113-34A= (n.54113-34A=)
n.597-4479T=
n.3364+1803T=
c.58133-34A= (n.58133-34A=)
c.32027-34A= (n.32027-34A=)
c.31886-34A= (n.31886-34A=)
c.57929-34A= (n.57929-34A=)
c.53327-34A= (n.53327-34A=)
c.53324-34A= (n.53324-34A=)
c.50366-34A= (n.50366-34A=)
c.31982-34A= (n.31982-34A=)
c.53477-34A= (n.53477-34A=)
c.53474-34A= (n.53474-34A=)
c.52907-34A= (n.52907-34A=)
c.50249-34A= (n.50249-34A=)
c.50168-34A= (n.50168-34A=)
c.31931-34A= (n.31931-34A=)
c.21785-34A= (n.21785-34A=)
2g.178593119G>CCA2662130859TTN,TTN-AS1c.51332-36C>G (n.51332-36C>G)
c.32417-36C>G (n.32417-36C>G)
c.32216-36C>G (n.32216-36C>G)
c.31841-36C>G (n.31841-36C>G)
c.59036-36C>G (n.59036-36C>G)
c.54113-36C>G (n.54113-36C>G)
n.597-4477G>C
n.3364+1805G>C
c.58133-36C>G (n.58133-36C>G)
c.32027-36C>G (n.32027-36C>G)
c.31886-36C>G (n.31886-36C>G)
c.57929-36C>G (n.57929-36C>G)
c.53327-36C>G (n.53327-36C>G)
c.53324-36C>G (n.53324-36C>G)
c.50366-36C>G (n.50366-36C>G)
c.31982-36C>G (n.31982-36C>G)
c.53477-36C>G (n.53477-36C>G)
c.53474-36C>G (n.53474-36C>G)
c.52907-36C>G (n.52907-36C>G)
c.50249-36C>G (n.50249-36C>G)
c.50168-36C>G (n.50168-36C>G)
c.31931-36C>G (n.31931-36C>G)
c.21785-36C>G (n.21785-36C>G)
 gnomAD v4
2g.178593122G>ACA60971138TTN,TTN-AS1c.51332-39C>T (n.51332-39C>T)
c.32417-39C>T (n.32417-39C>T)
c.32216-39C>T (n.32216-39C>T)
c.31841-39C>T (n.31841-39C>T)
c.59036-39C>T (n.59036-39C>T)
c.54113-39C>T (n.54113-39C>T)
n.597-4474G>A
n.3364+1808G>A
c.58133-39C>T (n.58133-39C>T)
c.32027-39C>T (n.32027-39C>T)
c.31886-39C>T (n.31886-39C>T)
c.57929-39C>T (n.57929-39C>T)
c.53327-39C>T (n.53327-39C>T)
c.53324-39C>T (n.53324-39C>T)
c.50366-39C>T (n.50366-39C>T)
c.31982-39C>T (n.31982-39C>T)
c.53477-39C>T (n.53477-39C>T)
c.53474-39C>T (n.53474-39C>T)
c.52907-39C>T (n.52907-39C>T)
c.50249-39C>T (n.50249-39C>T)
c.50168-39C>T (n.50168-39C>T)
c.31931-39C>T (n.31931-39C>T)
c.21785-39C>T (n.21785-39C>T)
 dbSNP gnomAD v4
2g.178593122G>CCA2662130860TTN,TTN-AS1c.51332-39C>G (n.51332-39C>G)
c.32417-39C>G (n.32417-39C>G)
c.32216-39C>G (n.32216-39C>G)
c.31841-39C>G (n.31841-39C>G)
c.59036-39C>G (n.59036-39C>G)
c.54113-39C>G (n.54113-39C>G)
n.597-4474G>C
n.3364+1808G>C
c.58133-39C>G (n.58133-39C>G)
c.32027-39C>G (n.32027-39C>G)
c.31886-39C>G (n.31886-39C>G)
c.57929-39C>G (n.57929-39C>G)
c.53327-39C>G (n.53327-39C>G)
c.53324-39C>G (n.53324-39C>G)
c.50366-39C>G (n.50366-39C>G)
c.31982-39C>G (n.31982-39C>G)
c.53477-39C>G (n.53477-39C>G)
c.53474-39C>G (n.53474-39C>G)
c.52907-39C>G (n.52907-39C>G)
c.50249-39C>G (n.50249-39C>G)
c.50168-39C>G (n.50168-39C>G)
c.31931-39C>G (n.31931-39C>G)
c.21785-39C>G (n.21785-39C>G)
 gnomAD v4
2g.178593122G=CA1310540362TTN,TTN-AS1c.51332-39C= (n.51332-39C=)
c.32417-39C= (n.32417-39C=)
c.32216-39C= (n.32216-39C=)
c.31841-39C= (n.31841-39C=)
c.59036-39C= (n.59036-39C=)
c.54113-39C= (n.54113-39C=)
n.597-4474G=
n.3364+1808G=
c.58133-39C= (n.58133-39C=)
c.32027-39C= (n.32027-39C=)
c.31886-39C= (n.31886-39C=)
c.57929-39C= (n.57929-39C=)
c.53327-39C= (n.53327-39C=)
c.53324-39C= (n.53324-39C=)
c.50366-39C= (n.50366-39C=)
c.31982-39C= (n.31982-39C=)
c.53477-39C= (n.53477-39C=)
c.53474-39C= (n.53474-39C=)
c.52907-39C= (n.52907-39C=)
c.50249-39C= (n.50249-39C=)
c.50168-39C= (n.50168-39C=)
c.31931-39C= (n.31931-39C=)
c.21785-39C= (n.21785-39C=)
2g.178593123A>GCA2662130861TTN,TTN-AS1c.51332-40T>C (n.51332-40T>C)
c.32417-40T>C (n.32417-40T>C)
c.32216-40T>C (n.32216-40T>C)
c.31841-40T>C (n.31841-40T>C)
c.59036-40T>C (n.59036-40T>C)
c.54113-40T>C (n.54113-40T>C)
n.597-4473A>G
n.3364+1809A>G
c.58133-40T>C (n.58133-40T>C)
c.32027-40T>C (n.32027-40T>C)
c.31886-40T>C (n.31886-40T>C)
c.57929-40T>C (n.57929-40T>C)
c.53327-40T>C (n.53327-40T>C)
c.53324-40T>C (n.53324-40T>C)
c.50366-40T>C (n.50366-40T>C)
c.31982-40T>C (n.31982-40T>C)
c.53477-40T>C (n.53477-40T>C)
c.53474-40T>C (n.53474-40T>C)
c.52907-40T>C (n.52907-40T>C)
c.50249-40T>C (n.50249-40T>C)
c.50168-40T>C (n.50168-40T>C)
c.31931-40T>C (n.31931-40T>C)
c.21785-40T>C (n.21785-40T>C)
 gnomAD v4
2g.178593127C>ACA1310540364TTN,TTN-AS1c.51332-44G>T (n.51332-44G>T)
c.32417-44G>T (n.32417-44G>T)
c.32216-44G>T (n.32216-44G>T)
c.31841-44G>T (n.31841-44G>T)
c.59036-44G>T (n.59036-44G>T)
c.54113-44G>T (n.54113-44G>T)
n.597-4469C>A
n.3364+1813C>A
c.58133-44G>T (n.58133-44G>T)
c.32027-44G>T (n.32027-44G>T)
c.31886-44G>T (n.31886-44G>T)
c.57929-44G>T (n.57929-44G>T)
c.53327-44G>T (n.53327-44G>T)
c.53324-44G>T (n.53324-44G>T)
c.50366-44G>T (n.50366-44G>T)
c.31982-44G>T (n.31982-44G>T)
c.53477-44G>T (n.53477-44G>T)
c.53474-44G>T (n.53474-44G>T)
c.52907-44G>T (n.52907-44G>T)
c.50249-44G>T (n.50249-44G>T)
c.50168-44G>T (n.50168-44G>T)
c.31931-44G>T (n.31931-44G>T)
c.21785-44G>T (n.21785-44G>T)
 dbSNP
2g.178593127C=CA1310540363TTN,TTN-AS1c.51332-44G= (n.51332-44G=)
c.32417-44G= (n.32417-44G=)
c.32216-44G= (n.32216-44G=)
c.31841-44G= (n.31841-44G=)
c.59036-44G= (n.59036-44G=)
c.54113-44G= (n.54113-44G=)
n.597-4469C=
n.3364+1813C=
c.58133-44G= (n.58133-44G=)
c.32027-44G= (n.32027-44G=)
c.31886-44G= (n.31886-44G=)
c.57929-44G= (n.57929-44G=)
c.53327-44G= (n.53327-44G=)
c.53324-44G= (n.53324-44G=)
c.50366-44G= (n.50366-44G=)
c.31982-44G= (n.31982-44G=)
c.53477-44G= (n.53477-44G=)
c.53474-44G= (n.53474-44G=)
c.52907-44G= (n.52907-44G=)
c.50249-44G= (n.50249-44G=)
c.50168-44G= (n.50168-44G=)
c.31931-44G= (n.31931-44G=)
c.21785-44G= (n.21785-44G=)
2g.178593127C>GCA2662130862TTN,TTN-AS1c.51332-44G>C (n.51332-44G>C)
c.32417-44G>C (n.32417-44G>C)
c.32216-44G>C (n.32216-44G>C)
c.31841-44G>C (n.31841-44G>C)
c.59036-44G>C (n.59036-44G>C)
c.54113-44G>C (n.54113-44G>C)
n.597-4469C>G
n.3364+1813C>G
c.58133-44G>C (n.58133-44G>C)
c.32027-44G>C (n.32027-44G>C)
c.31886-44G>C (n.31886-44G>C)
c.57929-44G>C (n.57929-44G>C)
c.53327-44G>C (n.53327-44G>C)
c.53324-44G>C (n.53324-44G>C)
c.50366-44G>C (n.50366-44G>C)
c.31982-44G>C (n.31982-44G>C)
c.53477-44G>C (n.53477-44G>C)
c.53474-44G>C (n.53474-44G>C)
c.52907-44G>C (n.52907-44G>C)
c.50249-44G>C (n.50249-44G>C)
c.50168-44G>C (n.50168-44G>C)
c.31931-44G>C (n.31931-44G>C)
c.21785-44G>C (n.21785-44G>C)
 gnomAD v4
2g.178593127C>TCA1310540365TTN,TTN-AS1c.51332-44G>A (n.51332-44G>A)
c.32417-44G>A (n.32417-44G>A)
c.32216-44G>A (n.32216-44G>A)
c.31841-44G>A (n.31841-44G>A)
c.59036-44G>A (n.59036-44G>A)
c.54113-44G>A (n.54113-44G>A)
n.597-4469C>T
n.3364+1813C>T
c.58133-44G>A (n.58133-44G>A)
c.32027-44G>A (n.32027-44G>A)
c.31886-44G>A (n.31886-44G>A)
c.57929-44G>A (n.57929-44G>A)
c.53327-44G>A (n.53327-44G>A)
c.53324-44G>A (n.53324-44G>A)
c.50366-44G>A (n.50366-44G>A)
c.31982-44G>A (n.31982-44G>A)
c.53477-44G>A (n.53477-44G>A)
c.53474-44G>A (n.53474-44G>A)
c.52907-44G>A (n.52907-44G>A)
c.50249-44G>A (n.50249-44G>A)
c.50168-44G>A (n.50168-44G>A)
c.31931-44G>A (n.31931-44G>A)
c.21785-44G>A (n.21785-44G>A)
 dbSNP
2g.178593128A=CA1310540367TTN,TTN-AS1c.51332-45T= (n.51332-45T=)
c.32417-45T= (n.32417-45T=)
c.32216-45T= (n.32216-45T=)
c.31841-45T= (n.31841-45T=)
c.59036-45T= (n.59036-45T=)
c.54113-45T= (n.54113-45T=)
n.597-4468A=
n.3364+1814A=
c.58133-45T= (n.58133-45T=)
c.32027-45T= (n.32027-45T=)
c.31886-45T= (n.31886-45T=)
c.57929-45T= (n.57929-45T=)
c.53327-45T= (n.53327-45T=)
c.53324-45T= (n.53324-45T=)
c.50366-45T= (n.50366-45T=)
c.31982-45T= (n.31982-45T=)
c.53477-45T= (n.53477-45T=)
c.53474-45T= (n.53474-45T=)
c.52907-45T= (n.52907-45T=)
c.50249-45T= (n.50249-45T=)
c.50168-45T= (n.50168-45T=)
c.31931-45T= (n.31931-45T=)
c.21785-45T= (n.21785-45T=)
2g.178593128A>GCA1992731TTN,TTN-AS1c.51332-45T>C (n.51332-45T>C)
c.32417-45T>C (n.32417-45T>C)
c.32216-45T>C (n.32216-45T>C)
c.31841-45T>C (n.31841-45T>C)
c.59036-45T>C (n.59036-45T>C)
c.54113-45T>C (n.54113-45T>C)
n.597-4468A>G
n.3364+1814A>G
c.58133-45T>C (n.58133-45T>C)
c.32027-45T>C (n.32027-45T>C)
c.31886-45T>C (n.31886-45T>C)
c.57929-45T>C (n.57929-45T>C)
c.53327-45T>C (n.53327-45T>C)
c.53324-45T>C (n.53324-45T>C)
c.50366-45T>C (n.50366-45T>C)
c.31982-45T>C (n.31982-45T>C)
c.53477-45T>C (n.53477-45T>C)
c.53474-45T>C (n.53474-45T>C)
c.52907-45T>C (n.52907-45T>C)
c.50249-45T>C (n.50249-45T>C)
c.50168-45T>C (n.50168-45T>C)
c.31931-45T>C (n.31931-45T>C)
c.21785-45T>C (n.21785-45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593129A=CA1310540368TTN,TTN-AS1c.51331+44T= (n.51331+44T=)
c.32416+44T= (n.32416+44T=)
c.32215+44T= (n.32215+44T=)
c.31840+44T= (n.31840+44T=)
c.59035+44T= (n.59035+44T=)
c.54112+44T= (n.54112+44T=)
n.597-4467A=
n.3364+1815A=
c.58132+44T= (n.58132+44T=)
c.32026+44T= (n.32026+44T=)
c.31885+44T= (n.31885+44T=)
c.57928+44T= (n.57928+44T=)
c.53326+44T= (n.53326+44T=)
c.53323+44T= (n.53323+44T=)
c.50365+44T= (n.50365+44T=)
c.31981+44T= (n.31981+44T=)
c.53476+44T= (n.53476+44T=)
c.53473+44T= (n.53473+44T=)
c.52906+44T= (n.52906+44T=)
c.50248+44T= (n.50248+44T=)
c.50167+44T= (n.50167+44T=)
c.31930+44T= (n.31930+44T=)
c.21784+44T= (n.21784+44T=)
2g.178593129A>GCA1992732TTN,TTN-AS1c.51331+44T>C (n.51331+44T>C)
c.32416+44T>C (n.32416+44T>C)
c.32215+44T>C (n.32215+44T>C)
c.31840+44T>C (n.31840+44T>C)
c.59035+44T>C (n.59035+44T>C)
c.54112+44T>C (n.54112+44T>C)
n.597-4467A>G
n.3364+1815A>G
c.58132+44T>C (n.58132+44T>C)
c.32026+44T>C (n.32026+44T>C)
c.31885+44T>C (n.31885+44T>C)
c.57928+44T>C (n.57928+44T>C)
c.53326+44T>C (n.53326+44T>C)
c.53323+44T>C (n.53323+44T>C)
c.50365+44T>C (n.50365+44T>C)
c.31981+44T>C (n.31981+44T>C)
c.53476+44T>C (n.53476+44T>C)
c.53473+44T>C (n.53473+44T>C)
c.52906+44T>C (n.52906+44T>C)
c.50248+44T>C (n.50248+44T>C)
c.50167+44T>C (n.50167+44T>C)
c.31930+44T>C (n.31930+44T>C)
c.21784+44T>C (n.21784+44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593129_178593133delinsAAGTTCA1310540369TTN,TTN-AS1c.51331+40_51331+44delinsAACTT (n.51331+40_51331+44delinsAACTT)
c.32416+40_32416+44delinsAACTT (n.32416+40_32416+44delinsAACTT)
c.32215+40_32215+44delinsAACTT (n.32215+40_32215+44delinsAACTT)
c.31840+40_31840+44delinsAACTT (n.31840+40_31840+44delinsAACTT)
c.59035+40_59035+44delinsAACTT (n.59035+40_59035+44delinsAACTT)
c.54112+40_54112+44delinsAACTT (n.54112+40_54112+44delinsAACTT)
n.597-4467_597-4463delinsAAGTT
n.3364+1815_3364+1819delinsAAGTT
c.58132+40_58132+44delinsAACTT (n.58132+40_58132+44delinsAACTT)
c.32026+40_32026+44delinsAACTT (n.32026+40_32026+44delinsAACTT)
c.31885+40_31885+44delinsAACTT (n.31885+40_31885+44delinsAACTT)
c.57928+40_57928+44delinsAACTT (n.57928+40_57928+44delinsAACTT)
c.53326+40_53326+44delinsAACTT (n.53326+40_53326+44delinsAACTT)
c.53323+40_53323+44delinsAACTT (n.53323+40_53323+44delinsAACTT)
c.50365+40_50365+44delinsAACTT (n.50365+40_50365+44delinsAACTT)
c.31981+40_31981+44delinsAACTT (n.31981+40_31981+44delinsAACTT)
c.53476+40_53476+44delinsAACTT (n.53476+40_53476+44delinsAACTT)
c.53473+40_53473+44delinsAACTT (n.53473+40_53473+44delinsAACTT)
c.52906+40_52906+44delinsAACTT (n.52906+40_52906+44delinsAACTT)
c.50248+40_50248+44delinsAACTT (n.50248+40_50248+44delinsAACTT)
c.50167+40_50167+44delinsAACTT (n.50167+40_50167+44delinsAACTT)
c.31930+40_31930+44delinsAACTT (n.31930+40_31930+44delinsAACTT)
c.21784+40_21784+44delinsAACTT (n.21784+40_21784+44delinsAACTT)
2g.178593130A=CA1310540371TTN,TTN-AS1c.51331+43T= (n.51331+43T=)
c.32416+43T= (n.32416+43T=)
c.32215+43T= (n.32215+43T=)
c.31840+43T= (n.31840+43T=)
c.59035+43T= (n.59035+43T=)
c.54112+43T= (n.54112+43T=)
n.597-4466A=
n.3364+1816A=
c.58132+43T= (n.58132+43T=)
c.32026+43T= (n.32026+43T=)
c.31885+43T= (n.31885+43T=)
c.57928+43T= (n.57928+43T=)
c.53326+43T= (n.53326+43T=)
c.53323+43T= (n.53323+43T=)
c.50365+43T= (n.50365+43T=)
c.31981+43T= (n.31981+43T=)
c.53476+43T= (n.53476+43T=)
c.53473+43T= (n.53473+43T=)
c.52906+43T= (n.52906+43T=)
c.50248+43T= (n.50248+43T=)
c.50167+43T= (n.50167+43T=)
c.31930+43T= (n.31930+43T=)
c.21784+43T= (n.21784+43T=)
2g.178593130A>CCA2662130863TTN,TTN-AS1c.51331+43T>G (n.51331+43T>G)
c.32416+43T>G (n.32416+43T>G)
c.32215+43T>G (n.32215+43T>G)
c.31840+43T>G (n.31840+43T>G)
c.59035+43T>G (n.59035+43T>G)
c.54112+43T>G (n.54112+43T>G)
n.597-4466A>C
n.3364+1816A>C
c.58132+43T>G (n.58132+43T>G)
c.32026+43T>G (n.32026+43T>G)
c.31885+43T>G (n.31885+43T>G)
c.57928+43T>G (n.57928+43T>G)
c.53326+43T>G (n.53326+43T>G)
c.53323+43T>G (n.53323+43T>G)
c.50365+43T>G (n.50365+43T>G)
c.31981+43T>G (n.31981+43T>G)
c.53476+43T>G (n.53476+43T>G)
c.53473+43T>G (n.53473+43T>G)
c.52906+43T>G (n.52906+43T>G)
c.50248+43T>G (n.50248+43T>G)
c.50167+43T>G (n.50167+43T>G)
c.31930+43T>G (n.31930+43T>G)
c.21784+43T>G (n.21784+43T>G)
 gnomAD v4
2g.178593130A>TCA1039713417TTN,TTN-AS1c.51331+43T>A (n.51331+43T>A)
c.32416+43T>A (n.32416+43T>A)
c.32215+43T>A (n.32215+43T>A)
c.31840+43T>A (n.31840+43T>A)
c.59035+43T>A (n.59035+43T>A)
c.54112+43T>A (n.54112+43T>A)
n.597-4466A>T
n.3364+1816A>T
c.58132+43T>A (n.58132+43T>A)
c.32026+43T>A (n.32026+43T>A)
c.31885+43T>A (n.31885+43T>A)
c.57928+43T>A (n.57928+43T>A)
c.53326+43T>A (n.53326+43T>A)
c.53323+43T>A (n.53323+43T>A)
c.50365+43T>A (n.50365+43T>A)
c.31981+43T>A (n.31981+43T>A)
c.53476+43T>A (n.53476+43T>A)
c.53473+43T>A (n.53473+43T>A)
c.52906+43T>A (n.52906+43T>A)
c.50248+43T>A (n.50248+43T>A)
c.50167+43T>A (n.50167+43T>A)
c.31930+43T>A (n.31930+43T>A)
c.21784+43T>A (n.21784+43T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.178593132_178593135delCA1992733TTN,TTN-AS1c.51331+40_51331+43del (n.51331+40_51331+43del)
c.32416+40_32416+43del (n.32416+40_32416+43del)
c.32215+40_32215+43del (n.32215+40_32215+43del)
c.31840+40_31840+43del (n.31840+40_31840+43del)
c.59035+40_59035+43del (n.59035+40_59035+43del)
c.54112+40_54112+43del (n.54112+40_54112+43del)
n.597-4464_597-4461del
n.3364+1818_3364+1821del
c.58132+40_58132+43del (n.58132+40_58132+43del)
c.32026+40_32026+43del (n.32026+40_32026+43del)
c.31885+40_31885+43del (n.31885+40_31885+43del)
c.57928+40_57928+43del (n.57928+40_57928+43del)
c.53326+40_53326+43del (n.53326+40_53326+43del)
c.53323+40_53323+43del (n.53323+40_53323+43del)
c.50365+40_50365+43del (n.50365+40_50365+43del)
c.31981+40_31981+43del (n.31981+40_31981+43del)
c.53476+40_53476+43del (n.53476+40_53476+43del)
c.53473+40_53473+43del (n.53473+40_53473+43del)
c.52906+40_52906+43del (n.52906+40_52906+43del)
c.50248+40_50248+43del (n.50248+40_50248+43del)
c.50167+40_50167+43del (n.50167+40_50167+43del)
c.31930+40_31930+43del (n.31930+40_31930+43del)
c.21784+40_21784+43del (n.21784+40_21784+43del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593132T>GCA538435612TTN,TTN-AS1c.51331+41A>C (n.51331+41A>C)
c.32416+41A>C (n.32416+41A>C)
c.32215+41A>C (n.32215+41A>C)
c.31840+41A>C (n.31840+41A>C)
c.59035+41A>C (n.59035+41A>C)
c.54112+41A>C (n.54112+41A>C)
n.597-4464T>G
n.3364+1818T>G
c.58132+41A>C (n.58132+41A>C)
c.32026+41A>C (n.32026+41A>C)
c.31885+41A>C (n.31885+41A>C)
c.57928+41A>C (n.57928+41A>C)
c.53326+41A>C (n.53326+41A>C)
c.53323+41A>C (n.53323+41A>C)
c.50365+41A>C (n.50365+41A>C)
c.31981+41A>C (n.31981+41A>C)
c.53476+41A>C (n.53476+41A>C)
c.53473+41A>C (n.53473+41A>C)
c.52906+41A>C (n.52906+41A>C)
c.50248+41A>C (n.50248+41A>C)
c.50167+41A>C (n.50167+41A>C)
c.31930+41A>C (n.31930+41A>C)
c.21784+41A>C (n.21784+41A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178593132T=CA1310540372TTN,TTN-AS1c.51331+41A= (n.51331+41A=)
c.32416+41A= (n.32416+41A=)
c.32215+41A= (n.32215+41A=)
c.31840+41A= (n.31840+41A=)
c.59035+41A= (n.59035+41A=)
c.54112+41A= (n.54112+41A=)
n.597-4464T=
n.3364+1818T=
c.58132+41A= (n.58132+41A=)
c.32026+41A= (n.32026+41A=)
c.31885+41A= (n.31885+41A=)
c.57928+41A= (n.57928+41A=)
c.53326+41A= (n.53326+41A=)
c.53323+41A= (n.53323+41A=)
c.50365+41A= (n.50365+41A=)
c.31981+41A= (n.31981+41A=)
c.53476+41A= (n.53476+41A=)
c.53473+41A= (n.53473+41A=)
c.52906+41A= (n.52906+41A=)
c.50248+41A= (n.50248+41A=)
c.50167+41A= (n.50167+41A=)
c.31930+41A= (n.31930+41A=)
c.21784+41A= (n.21784+41A=)
2g.178593133T>CCA538435613TTN,TTN-AS1c.51331+40A>G (n.51331+40A>G)
c.32416+40A>G (n.32416+40A>G)
c.32215+40A>G (n.32215+40A>G)
c.31840+40A>G (n.31840+40A>G)
c.59035+40A>G (n.59035+40A>G)
c.54112+40A>G (n.54112+40A>G)
n.597-4463T>C
n.3364+1819T>C
c.58132+40A>G (n.58132+40A>G)
c.32026+40A>G (n.32026+40A>G)
c.31885+40A>G (n.31885+40A>G)
c.57928+40A>G (n.57928+40A>G)
c.53326+40A>G (n.53326+40A>G)
c.53323+40A>G (n.53323+40A>G)
c.50365+40A>G (n.50365+40A>G)
c.31981+40A>G (n.31981+40A>G)
c.53476+40A>G (n.53476+40A>G)
c.53473+40A>G (n.53473+40A>G)
c.52906+40A>G (n.52906+40A>G)
c.50248+40A>G (n.50248+40A>G)
c.50167+40A>G (n.50167+40A>G)
c.31930+40A>G (n.31930+40A>G)
c.21784+40A>G (n.21784+40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178593133T=CA1310540373TTN,TTN-AS1c.51331+40A= (n.51331+40A=)
c.32416+40A= (n.32416+40A=)
c.32215+40A= (n.32215+40A=)
c.31840+40A= (n.31840+40A=)
c.59035+40A= (n.59035+40A=)
c.54112+40A= (n.54112+40A=)
n.597-4463T=
n.3364+1819T=
c.58132+40A= (n.58132+40A=)
c.32026+40A= (n.32026+40A=)
c.31885+40A= (n.31885+40A=)
c.57928+40A= (n.57928+40A=)
c.53326+40A= (n.53326+40A=)
c.53323+40A= (n.53323+40A=)
c.50365+40A= (n.50365+40A=)
c.31981+40A= (n.31981+40A=)
c.53476+40A= (n.53476+40A=)
c.53473+40A= (n.53473+40A=)
c.52906+40A= (n.52906+40A=)
c.50248+40A= (n.50248+40A=)
c.50167+40A= (n.50167+40A=)
c.31930+40A= (n.31930+40A=)
c.21784+40A= (n.21784+40A=)
2g.178593135G>CCA60971144TTN,TTN-AS1c.51331+38C>G (n.51331+38C>G)
c.32416+38C>G (n.32416+38C>G)
c.32215+38C>G (n.32215+38C>G)
c.31840+38C>G (n.31840+38C>G)
c.59035+38C>G (n.59035+38C>G)
c.54112+38C>G (n.54112+38C>G)
n.597-4461G>C
n.3364+1821G>C
c.58132+38C>G (n.58132+38C>G)
c.32026+38C>G (n.32026+38C>G)
c.31885+38C>G (n.31885+38C>G)
c.57928+38C>G (n.57928+38C>G)
c.53326+38C>G (n.53326+38C>G)
c.53323+38C>G (n.53323+38C>G)
c.50365+38C>G (n.50365+38C>G)
c.31981+38C>G (n.31981+38C>G)
c.53476+38C>G (n.53476+38C>G)
c.53473+38C>G (n.53473+38C>G)
c.52906+38C>G (n.52906+38C>G)
c.50248+38C>G (n.50248+38C>G)
c.50167+38C>G (n.50167+38C>G)
c.31930+38C>G (n.31930+38C>G)
c.21784+38C>G (n.21784+38C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.178593135G=CA1310540375TTN,TTN-AS1c.51331+38C= (n.51331+38C=)
c.32416+38C= (n.32416+38C=)
c.32215+38C= (n.32215+38C=)
c.31840+38C= (n.31840+38C=)
c.59035+38C= (n.59035+38C=)
c.54112+38C= (n.54112+38C=)
n.597-4461G=
n.3364+1821G=
c.58132+38C= (n.58132+38C=)
c.32026+38C= (n.32026+38C=)
c.31885+38C= (n.31885+38C=)
c.57928+38C= (n.57928+38C=)
c.53326+38C= (n.53326+38C=)
c.53323+38C= (n.53323+38C=)
c.50365+38C= (n.50365+38C=)
c.31981+38C= (n.31981+38C=)
c.53476+38C= (n.53476+38C=)
c.53473+38C= (n.53473+38C=)
c.52906+38C= (n.52906+38C=)
c.50248+38C= (n.50248+38C=)
c.50167+38C= (n.50167+38C=)
c.31930+38C= (n.31930+38C=)
c.21784+38C= (n.21784+38C=)
2g.178593136delCA2662130864TTN,TTN-AS1c.51331+37del (n.51331+37del)
c.32416+37del (n.32416+37del)
c.32215+37del (n.32215+37del)
c.31840+37del (n.31840+37del)
c.59035+37del (n.59035+37del)
c.54112+37del (n.54112+37del)
n.597-4460del
n.3364+1822del
c.58132+37del (n.58132+37del)
c.32026+37del (n.32026+37del)
c.31885+37del (n.31885+37del)
c.57928+37del (n.57928+37del)
c.53326+37del (n.53326+37del)
c.53323+37del (n.53323+37del)
c.50365+37del (n.50365+37del)
c.31981+37del (n.31981+37del)
c.53476+37del (n.53476+37del)
c.53473+37del (n.53473+37del)
c.52906+37del (n.52906+37del)
c.50248+37del (n.50248+37del)
c.50167+37del (n.50167+37del)
c.31930+37del (n.31930+37del)
c.21784+37del (n.21784+37del)
 gnomAD v4
2g.178593138A>GCA2662130865TTN,TTN-AS1c.51331+35T>C (n.51331+35T>C)
c.32416+35T>C (n.32416+35T>C)
c.32215+35T>C (n.32215+35T>C)
c.31840+35T>C (n.31840+35T>C)
c.59035+35T>C (n.59035+35T>C)
c.54112+35T>C (n.54112+35T>C)
n.597-4458A>G
n.3364+1824A>G
c.58132+35T>C (n.58132+35T>C)
c.32026+35T>C (n.32026+35T>C)
c.31885+35T>C (n.31885+35T>C)
c.57928+35T>C (n.57928+35T>C)
c.53326+35T>C (n.53326+35T>C)
c.53323+35T>C (n.53323+35T>C)
c.50365+35T>C (n.50365+35T>C)
c.31981+35T>C (n.31981+35T>C)
c.53476+35T>C (n.53476+35T>C)
c.53473+35T>C (n.53473+35T>C)
c.52906+35T>C (n.52906+35T>C)
c.50248+35T>C (n.50248+35T>C)
c.50167+35T>C (n.50167+35T>C)
c.31930+35T>C (n.31930+35T>C)
c.21784+35T>C (n.21784+35T>C)
 gnomAD v4
2g.178593140C=CA1310540376TTN,TTN-AS1c.51331+33G= (n.51331+33G=)
c.32416+33G= (n.32416+33G=)
c.32215+33G= (n.32215+33G=)
c.31840+33G= (n.31840+33G=)
c.59035+33G= (n.59035+33G=)
c.54112+33G= (n.54112+33G=)
n.597-4456C=
n.3364+1826C=
c.58132+33G= (n.58132+33G=)
c.32026+33G= (n.32026+33G=)
c.31885+33G= (n.31885+33G=)
c.57928+33G= (n.57928+33G=)
c.53326+33G= (n.53326+33G=)
c.53323+33G= (n.53323+33G=)
c.50365+33G= (n.50365+33G=)
c.31981+33G= (n.31981+33G=)
c.53476+33G= (n.53476+33G=)
c.53473+33G= (n.53473+33G=)
c.52906+33G= (n.52906+33G=)
c.50248+33G= (n.50248+33G=)
c.50167+33G= (n.50167+33G=)
c.31930+33G= (n.31930+33G=)
c.21784+33G= (n.21784+33G=)
2g.178593140C>GCA1992734TTN,TTN-AS1c.51331+33G>C (n.51331+33G>C)
c.32416+33G>C (n.32416+33G>C)
c.32215+33G>C (n.32215+33G>C)
c.31840+33G>C (n.31840+33G>C)
c.59035+33G>C (n.59035+33G>C)
c.54112+33G>C (n.54112+33G>C)
n.597-4456C>G
n.3364+1826C>G
c.58132+33G>C (n.58132+33G>C)
c.32026+33G>C (n.32026+33G>C)
c.31885+33G>C (n.31885+33G>C)
c.57928+33G>C (n.57928+33G>C)
c.53326+33G>C (n.53326+33G>C)
c.53323+33G>C (n.53323+33G>C)
c.50365+33G>C (n.50365+33G>C)
c.31981+33G>C (n.31981+33G>C)
c.53476+33G>C (n.53476+33G>C)
c.53473+33G>C (n.53473+33G>C)
c.52906+33G>C (n.52906+33G>C)
c.50248+33G>C (n.50248+33G>C)
c.50167+33G>C (n.50167+33G>C)
c.31930+33G>C (n.31930+33G>C)
c.21784+33G>C (n.21784+33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593141A=CA1310540378TTN,TTN-AS1c.51331+32T= (n.51331+32T=)
c.32416+32T= (n.32416+32T=)
c.32215+32T= (n.32215+32T=)
c.31840+32T= (n.31840+32T=)
c.59035+32T= (n.59035+32T=)
c.54112+32T= (n.54112+32T=)
n.597-4455A=
n.3364+1827A=
c.58132+32T= (n.58132+32T=)
c.32026+32T= (n.32026+32T=)
c.31885+32T= (n.31885+32T=)
c.57928+32T= (n.57928+32T=)
c.53326+32T= (n.53326+32T=)
c.53323+32T= (n.53323+32T=)
c.50365+32T= (n.50365+32T=)
c.31981+32T= (n.31981+32T=)
c.53476+32T= (n.53476+32T=)
c.53473+32T= (n.53473+32T=)
c.52906+32T= (n.52906+32T=)
c.50248+32T= (n.50248+32T=)
c.50167+32T= (n.50167+32T=)
c.31930+32T= (n.31930+32T=)
c.21784+32T= (n.21784+32T=)
2g.178593141A>GCA1992735TTN,TTN-AS1c.51331+32T>C (n.51331+32T>C)
c.32416+32T>C (n.32416+32T>C)
c.32215+32T>C (n.32215+32T>C)
c.31840+32T>C (n.31840+32T>C)
c.59035+32T>C (n.59035+32T>C)
c.54112+32T>C (n.54112+32T>C)
n.597-4455A>G
n.3364+1827A>G
c.58132+32T>C (n.58132+32T>C)
c.32026+32T>C (n.32026+32T>C)
c.31885+32T>C (n.31885+32T>C)
c.57928+32T>C (n.57928+32T>C)
c.53326+32T>C (n.53326+32T>C)
c.53323+32T>C (n.53323+32T>C)
c.50365+32T>C (n.50365+32T>C)
c.31981+32T>C (n.31981+32T>C)
c.53476+32T>C (n.53476+32T>C)
c.53473+32T>C (n.53473+32T>C)
c.52906+32T>C (n.52906+32T>C)
c.50248+32T>C (n.50248+32T>C)
c.50167+32T>C (n.50167+32T>C)
c.31930+32T>C (n.31930+32T>C)
c.21784+32T>C (n.21784+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178593146A>GCA2662130866TTN,TTN-AS1c.51331+27T>C (n.51331+27T>C)
c.32416+27T>C (n.32416+27T>C)
c.32215+27T>C (n.32215+27T>C)
c.31840+27T>C (n.31840+27T>C)
c.59035+27T>C (n.59035+27T>C)
c.54112+27T>C (n.54112+27T>C)
n.597-4450A>G
n.3364+1832A>G
c.58132+27T>C (n.58132+27T>C)
c.32026+27T>C (n.32026+27T>C)
c.31885+27T>C (n.31885+27T>C)
c.57928+27T>C (n.57928+27T>C)
c.53326+27T>C (n.53326+27T>C)
c.53323+27T>C (n.53323+27T>C)
c.50365+27T>C (n.50365+27T>C)
c.31981+27T>C (n.31981+27T>C)
c.53476+27T>C (n.53476+27T>C)
c.53473+27T>C (n.53473+27T>C)
c.52906+27T>C (n.52906+27T>C)
c.50248+27T>C (n.50248+27T>C)
c.50167+27T>C (n.50167+27T>C)
c.31930+27T>C (n.31930+27T>C)
c.21784+27T>C (n.21784+27T>C)
 gnomAD v4

Number of alleles fetched