Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178590918A>CCA349479363TTN,TTN-AS1c.53103T>G (p.Phe17701Leu)
c.34188T>G (p.Phe11396Leu)
c.33987T>G (p.Phe11329Leu)
c.33612T>G (p.Phe11204Leu)
c.60807T>G (p.Phe20269Leu)
c.55884T>G (p.Phe18628Leu)
n.597-6678A>C
n.3189-221A>C
c.59904T>G (p.Phe19968Leu)
c.33798T>G (p.Phe11266Leu)
c.33657T>G (p.Phe11219Leu)
c.59700T>G (p.Phe19900Leu)
c.55098T>G (p.Phe18366Leu)
c.55095T>G (p.Phe18365Leu)
c.52137T>G (p.Phe17379Leu)
c.33753T>G (p.Phe11251Leu)
c.55248T>G (p.Phe18416Leu)
c.55245T>G (p.Phe18415Leu)
c.54678T>G (p.Phe18226Leu)
c.52020T>G (p.Phe17340Leu)
c.51939T>G (p.Phe17313Leu)
c.33702T>G (p.Phe11234Leu)
c.23556T>G (p.Phe7852Leu)
2g.178590918A>GCA430266220TTN,TTN-AS1c.53103T>C (p.Phe17701=)
c.34188T>C (p.Phe11396=)
c.33987T>C (p.Phe11329=)
c.33612T>C (p.Phe11204=)
c.60807T>C (p.Phe20269=)
c.55884T>C (p.Phe18628=)
n.597-6678A>G
n.3189-221A>G
c.59904T>C (p.Phe19968=)
c.33798T>C (p.Phe11266=)
c.33657T>C (p.Phe11219=)
c.59700T>C (p.Phe19900=)
c.55098T>C (p.Phe18366=)
c.55095T>C (p.Phe18365=)
c.52137T>C (p.Phe17379=)
c.33753T>C (p.Phe11251=)
c.55248T>C (p.Phe18416=)
c.55245T>C (p.Phe18415=)
c.54678T>C (p.Phe18226=)
c.52020T>C (p.Phe17340=)
c.51939T>C (p.Phe17313=)
c.33702T>C (p.Phe11234=)
c.23556T>C (p.Phe7852=)
 ClinVar
2g.178590918A>TCA349479369TTN,TTN-AS1c.53103T>A (p.Phe17701Leu)
c.34188T>A (p.Phe11396Leu)
c.33987T>A (p.Phe11329Leu)
c.33612T>A (p.Phe11204Leu)
c.60807T>A (p.Phe20269Leu)
c.55884T>A (p.Phe18628Leu)
n.597-6678A>T
n.3189-221A>T
c.59904T>A (p.Phe19968Leu)
c.33798T>A (p.Phe11266Leu)
c.33657T>A (p.Phe11219Leu)
c.59700T>A (p.Phe19900Leu)
c.55098T>A (p.Phe18366Leu)
c.55095T>A (p.Phe18365Leu)
c.52137T>A (p.Phe17379Leu)
c.33753T>A (p.Phe11251Leu)
c.55248T>A (p.Phe18416Leu)
c.55245T>A (p.Phe18415Leu)
c.54678T>A (p.Phe18226Leu)
c.52020T>A (p.Phe17340Leu)
c.51939T>A (p.Phe17313Leu)
c.33702T>A (p.Phe11234Leu)
c.23556T>A (p.Phe7852Leu)
2g.178590920delCA2662130787TTN,TTN-AS1c.53103del (p.Phe17701LeufsTer?)
c.34188del (p.Phe11396LeufsTer?)
c.33987del (p.Phe11329LeufsTer?)
c.33612del (p.Phe11204LeufsTer?)
c.60807del (p.Phe20269LeufsTer?)
c.55884del (p.Phe18628LeufsTer?)
n.597-6676del
n.3189-219del
c.59904del (p.Phe19968LeufsTer?)
c.33798del (p.Phe11266LeufsTer?)
c.33657del (p.Phe11219LeufsTer?)
c.59700del (p.Phe19900LeufsTer?)
c.55098del (p.Phe18366LeufsTer?)
c.55095del (p.Phe18365LeufsTer?)
c.52137del (p.Phe17379LeufsTer?)
c.33753del (p.Phe11251LeufsTer?)
c.55248del (p.Phe18416LeufsTer?)
c.55245del (p.Phe18415LeufsTer?)
c.54678del (p.Phe18226LeufsTer?)
c.52020del (p.Phe17340LeufsTer?)
c.51939del (p.Phe17313LeufsTer?)
c.33702del (p.Phe11234LeufsTer?)
c.23556del (p.Phe7852LeufsTer?)
 gnomAD v4
2g.178590919A>CCA349479371TTN,TTN-AS1c.53102T>G (p.Phe17701Cys)
c.34187T>G (p.Phe11396Cys)
c.33986T>G (p.Phe11329Cys)
c.33611T>G (p.Phe11204Cys)
c.60806T>G (p.Phe20269Cys)
c.55883T>G (p.Phe18628Cys)
n.597-6677A>C
n.3189-220A>C
c.59903T>G (p.Phe19968Cys)
c.33797T>G (p.Phe11266Cys)
c.33656T>G (p.Phe11219Cys)
c.59699T>G (p.Phe19900Cys)
c.55097T>G (p.Phe18366Cys)
c.55094T>G (p.Phe18365Cys)
c.52136T>G (p.Phe17379Cys)
c.33752T>G (p.Phe11251Cys)
c.55247T>G (p.Phe18416Cys)
c.55244T>G (p.Phe18415Cys)
c.54677T>G (p.Phe18226Cys)
c.52019T>G (p.Phe17340Cys)
c.51938T>G (p.Phe17313Cys)
c.33701T>G (p.Phe11234Cys)
c.23555T>G (p.Phe7852Cys)
2g.178590919A>GCA349479372TTN,TTN-AS1c.53102T>C (p.Phe17701Ser)
c.34187T>C (p.Phe11396Ser)
c.33986T>C (p.Phe11329Ser)
c.33611T>C (p.Phe11204Ser)
c.60806T>C (p.Phe20269Ser)
c.55883T>C (p.Phe18628Ser)
n.597-6677A>G
n.3189-220A>G
c.59903T>C (p.Phe19968Ser)
c.33797T>C (p.Phe11266Ser)
c.33656T>C (p.Phe11219Ser)
c.59699T>C (p.Phe19900Ser)
c.55097T>C (p.Phe18366Ser)
c.55094T>C (p.Phe18365Ser)
c.52136T>C (p.Phe17379Ser)
c.33752T>C (p.Phe11251Ser)
c.55247T>C (p.Phe18416Ser)
c.55244T>C (p.Phe18415Ser)
c.54677T>C (p.Phe18226Ser)
c.52019T>C (p.Phe17340Ser)
c.51938T>C (p.Phe17313Ser)
c.33701T>C (p.Phe11234Ser)
c.23555T>C (p.Phe7852Ser)
2g.178590919A>TCA349479373TTN,TTN-AS1c.53102T>A (p.Phe17701Tyr)
c.34187T>A (p.Phe11396Tyr)
c.33986T>A (p.Phe11329Tyr)
c.33611T>A (p.Phe11204Tyr)
c.60806T>A (p.Phe20269Tyr)
c.55883T>A (p.Phe18628Tyr)
n.597-6677A>T
n.3189-220A>T
c.59903T>A (p.Phe19968Tyr)
c.33797T>A (p.Phe11266Tyr)
c.33656T>A (p.Phe11219Tyr)
c.59699T>A (p.Phe19900Tyr)
c.55097T>A (p.Phe18366Tyr)
c.55094T>A (p.Phe18365Tyr)
c.52136T>A (p.Phe17379Tyr)
c.33752T>A (p.Phe11251Tyr)
c.55247T>A (p.Phe18416Tyr)
c.55244T>A (p.Phe18415Tyr)
c.54677T>A (p.Phe18226Tyr)
c.52019T>A (p.Phe17340Tyr)
c.51938T>A (p.Phe17313Tyr)
c.33701T>A (p.Phe11234Tyr)
c.23555T>A (p.Phe7852Tyr)
2g.178590920A=CA1310539664TTN,TTN-AS1c.53101T= (p.Phe17701=)
c.34186T= (p.Phe11396=)
c.33985T= (p.Phe11329=)
c.33610T= (p.Phe11204=)
c.60805T= (p.Phe20269=)
c.55882T= (p.Phe18628=)
n.597-6676A=
n.3189-219A=
c.59902T= (p.Phe19968=)
c.33796T= (p.Phe11266=)
c.33655T= (p.Phe11219=)
c.59698T= (p.Phe19900=)
c.55096T= (p.Phe18366=)
c.55093T= (p.Phe18365=)
c.52135T= (p.Phe17379=)
c.33751T= (p.Phe11251=)
c.55246T= (p.Phe18416=)
c.55243T= (p.Phe18415=)
c.54676T= (p.Phe18226=)
c.52018T= (p.Phe17340=)
c.51937T= (p.Phe17313=)
c.33700T= (p.Phe11234=)
c.23554T= (p.Phe7852=)
2g.178590920A>CCA349479378TTN,TTN-AS1c.53101T>G (p.Phe17701Val)
c.34186T>G (p.Phe11396Val)
c.33985T>G (p.Phe11329Val)
c.33610T>G (p.Phe11204Val)
c.60805T>G (p.Phe20269Val)
c.55882T>G (p.Phe18628Val)
n.597-6676A>C
n.3189-219A>C
c.59902T>G (p.Phe19968Val)
c.33796T>G (p.Phe11266Val)
c.33655T>G (p.Phe11219Val)
c.59698T>G (p.Phe19900Val)
c.55096T>G (p.Phe18366Val)
c.55093T>G (p.Phe18365Val)
c.52135T>G (p.Phe17379Val)
c.33751T>G (p.Phe11251Val)
c.55246T>G (p.Phe18416Val)
c.55243T>G (p.Phe18415Val)
c.54676T>G (p.Phe18226Val)
c.52018T>G (p.Phe17340Val)
c.51937T>G (p.Phe17313Val)
c.33700T>G (p.Phe11234Val)
c.23554T>G (p.Phe7852Val)
2g.178590920A>GCA1992445TTN,TTN-AS1c.53101T>C (p.Phe17701Leu)
c.34186T>C (p.Phe11396Leu)
c.33985T>C (p.Phe11329Leu)
c.33610T>C (p.Phe11204Leu)
c.60805T>C (p.Phe20269Leu)
c.55882T>C (p.Phe18628Leu)
n.597-6676A>G
n.3189-219A>G
c.59902T>C (p.Phe19968Leu)
c.33796T>C (p.Phe11266Leu)
c.33655T>C (p.Phe11219Leu)
c.59698T>C (p.Phe19900Leu)
c.55096T>C (p.Phe18366Leu)
c.55093T>C (p.Phe18365Leu)
c.52135T>C (p.Phe17379Leu)
c.33751T>C (p.Phe11251Leu)
c.55246T>C (p.Phe18416Leu)
c.55243T>C (p.Phe18415Leu)
c.54676T>C (p.Phe18226Leu)
c.52018T>C (p.Phe17340Leu)
c.51937T>C (p.Phe17313Leu)
c.33700T>C (p.Phe11234Leu)
c.23554T>C (p.Phe7852Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590920A>TCA349479375TTN,TTN-AS1c.53101T>A (p.Phe17701Ile)
c.34186T>A (p.Phe11396Ile)
c.33985T>A (p.Phe11329Ile)
c.33610T>A (p.Phe11204Ile)
c.60805T>A (p.Phe20269Ile)
c.55882T>A (p.Phe18628Ile)
n.597-6676A>T
n.3189-219A>T
c.59902T>A (p.Phe19968Ile)
c.33796T>A (p.Phe11266Ile)
c.33655T>A (p.Phe11219Ile)
c.59698T>A (p.Phe19900Ile)
c.55096T>A (p.Phe18366Ile)
c.55093T>A (p.Phe18365Ile)
c.52135T>A (p.Phe17379Ile)
c.33751T>A (p.Phe11251Ile)
c.55246T>A (p.Phe18416Ile)
c.55243T>A (p.Phe18415Ile)
c.54676T>A (p.Phe18226Ile)
c.52018T>A (p.Phe17340Ile)
c.51937T>A (p.Phe17313Ile)
c.33700T>A (p.Phe11234Ile)
c.23554T>A (p.Phe7852Ile)
2g.178590921T>ACA349479380TTN,TTN-AS1c.53100A>T (p.Lys17700Asn)
c.34185A>T (p.Lys11395Asn)
c.33984A>T (p.Lys11328Asn)
c.33609A>T (p.Lys11203Asn)
c.60804A>T (p.Lys20268Asn)
c.55881A>T (p.Lys18627Asn)
n.597-6675T>A
n.3189-218T>A
c.59901A>T (p.Lys19967Asn)
c.33795A>T (p.Lys11265Asn)
c.33654A>T (p.Lys11218Asn)
c.59697A>T (p.Lys19899Asn)
c.55095A>T (p.Lys18365Asn)
c.55092A>T (p.Lys18364Asn)
c.52134A>T (p.Lys17378Asn)
c.33750A>T (p.Lys11250Asn)
c.55245A>T (p.Lys18415Asn)
c.55242A>T (p.Lys18414Asn)
c.54675A>T (p.Lys18225Asn)
c.52017A>T (p.Lys17339Asn)
c.51936A>T (p.Lys17312Asn)
c.33699A>T (p.Lys11233Asn)
c.23553A>T (p.Lys7851Asn)
2g.178590921T>CCA430266223TTN,TTN-AS1c.53100A>G (p.Lys17700=)
c.34185A>G (p.Lys11395=)
c.33984A>G (p.Lys11328=)
c.33609A>G (p.Lys11203=)
c.60804A>G (p.Lys20268=)
c.55881A>G (p.Lys18627=)
n.597-6675T>C
n.3189-218T>C
c.59901A>G (p.Lys19967=)
c.33795A>G (p.Lys11265=)
c.33654A>G (p.Lys11218=)
c.59697A>G (p.Lys19899=)
c.55095A>G (p.Lys18365=)
c.55092A>G (p.Lys18364=)
c.52134A>G (p.Lys17378=)
c.33750A>G (p.Lys11250=)
c.55245A>G (p.Lys18415=)
c.55242A>G (p.Lys18414=)
c.54675A>G (p.Lys18225=)
c.52017A>G (p.Lys17339=)
c.51936A>G (p.Lys17312=)
c.33699A>G (p.Lys11233=)
c.23553A>G (p.Lys7851=)
2g.178590921T>GCA349479386TTN,TTN-AS1c.53100A>C (p.Lys17700Asn)
c.34185A>C (p.Lys11395Asn)
c.33984A>C (p.Lys11328Asn)
c.33609A>C (p.Lys11203Asn)
c.60804A>C (p.Lys20268Asn)
c.55881A>C (p.Lys18627Asn)
n.597-6675T>G
n.3189-218T>G
c.59901A>C (p.Lys19967Asn)
c.33795A>C (p.Lys11265Asn)
c.33654A>C (p.Lys11218Asn)
c.59697A>C (p.Lys19899Asn)
c.55095A>C (p.Lys18365Asn)
c.55092A>C (p.Lys18364Asn)
c.52134A>C (p.Lys17378Asn)
c.33750A>C (p.Lys11250Asn)
c.55245A>C (p.Lys18415Asn)
c.55242A>C (p.Lys18414Asn)
c.54675A>C (p.Lys18225Asn)
c.52017A>C (p.Lys17339Asn)
c.51936A>C (p.Lys17312Asn)
c.33699A>C (p.Lys11233Asn)
c.23553A>C (p.Lys7851Asn)
2g.178590922T>ACA349479390TTN,TTN-AS1c.53099A>T (p.Lys17700Ile)
c.34184A>T (p.Lys11395Ile)
c.33983A>T (p.Lys11328Ile)
c.33608A>T (p.Lys11203Ile)
c.60803A>T (p.Lys20268Ile)
c.55880A>T (p.Lys18627Ile)
n.597-6674T>A
n.3189-217T>A
c.59900A>T (p.Lys19967Ile)
c.33794A>T (p.Lys11265Ile)
c.33653A>T (p.Lys11218Ile)
c.59696A>T (p.Lys19899Ile)
c.55094A>T (p.Lys18365Ile)
c.55091A>T (p.Lys18364Ile)
c.52133A>T (p.Lys17378Ile)
c.33749A>T (p.Lys11250Ile)
c.55244A>T (p.Lys18415Ile)
c.55241A>T (p.Lys18414Ile)
c.54674A>T (p.Lys18225Ile)
c.52016A>T (p.Lys17339Ile)
c.51935A>T (p.Lys17312Ile)
c.33698A>T (p.Lys11233Ile)
c.23552A>T (p.Lys7851Ile)
2g.178590922T>CCA349479401TTN,TTN-AS1c.53099A>G (p.Lys17700Arg)
c.34184A>G (p.Lys11395Arg)
c.33983A>G (p.Lys11328Arg)
c.33608A>G (p.Lys11203Arg)
c.60803A>G (p.Lys20268Arg)
c.55880A>G (p.Lys18627Arg)
n.597-6674T>C
n.3189-217T>C
c.59900A>G (p.Lys19967Arg)
c.33794A>G (p.Lys11265Arg)
c.33653A>G (p.Lys11218Arg)
c.59696A>G (p.Lys19899Arg)
c.55094A>G (p.Lys18365Arg)
c.55091A>G (p.Lys18364Arg)
c.52133A>G (p.Lys17378Arg)
c.33749A>G (p.Lys11250Arg)
c.55244A>G (p.Lys18415Arg)
c.55241A>G (p.Lys18414Arg)
c.54674A>G (p.Lys18225Arg)
c.52016A>G (p.Lys17339Arg)
c.51935A>G (p.Lys17312Arg)
c.33698A>G (p.Lys11233Arg)
c.23552A>G (p.Lys7851Arg)
2g.178590922T>GCA349479404TTN,TTN-AS1c.53099A>C (p.Lys17700Thr)
c.34184A>C (p.Lys11395Thr)
c.33983A>C (p.Lys11328Thr)
c.33608A>C (p.Lys11203Thr)
c.60803A>C (p.Lys20268Thr)
c.55880A>C (p.Lys18627Thr)
n.597-6674T>G
n.3189-217T>G
c.59900A>C (p.Lys19967Thr)
c.33794A>C (p.Lys11265Thr)
c.33653A>C (p.Lys11218Thr)
c.59696A>C (p.Lys19899Thr)
c.55094A>C (p.Lys18365Thr)
c.55091A>C (p.Lys18364Thr)
c.52133A>C (p.Lys17378Thr)
c.33749A>C (p.Lys11250Thr)
c.55244A>C (p.Lys18415Thr)
c.55241A>C (p.Lys18414Thr)
c.54674A>C (p.Lys18225Thr)
c.52016A>C (p.Lys17339Thr)
c.51935A>C (p.Lys17312Thr)
c.33698A>C (p.Lys11233Thr)
c.23552A>C (p.Lys7851Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178590923T>ACA349479409TTN,TTN-AS1c.53098A>T (p.Lys17700Ter)
c.34183A>T (p.Lys11395Ter)
c.33982A>T (p.Lys11328Ter)
c.33607A>T (p.Lys11203Ter)
c.60802A>T (p.Lys20268Ter)
c.55879A>T (p.Lys18627Ter)
n.597-6673T>A
n.3189-216T>A
c.59899A>T (p.Lys19967Ter)
c.33793A>T (p.Lys11265Ter)
c.33652A>T (p.Lys11218Ter)
c.59695A>T (p.Lys19899Ter)
c.55093A>T (p.Lys18365Ter)
c.55090A>T (p.Lys18364Ter)
c.52132A>T (p.Lys17378Ter)
c.33748A>T (p.Lys11250Ter)
c.55243A>T (p.Lys18415Ter)
c.55240A>T (p.Lys18414Ter)
c.54673A>T (p.Lys18225Ter)
c.52015A>T (p.Lys17339Ter)
c.51934A>T (p.Lys17312Ter)
c.33697A>T (p.Lys11233Ter)
c.23551A>T (p.Lys7851Ter)
2g.178590923T>CCA349479411TTN,TTN-AS1c.53098A>G (p.Lys17700Glu)
c.34183A>G (p.Lys11395Glu)
c.33982A>G (p.Lys11328Glu)
c.33607A>G (p.Lys11203Glu)
c.60802A>G (p.Lys20268Glu)
c.55879A>G (p.Lys18627Glu)
n.597-6673T>C
n.3189-216T>C
c.59899A>G (p.Lys19967Glu)
c.33793A>G (p.Lys11265Glu)
c.33652A>G (p.Lys11218Glu)
c.59695A>G (p.Lys19899Glu)
c.55093A>G (p.Lys18365Glu)
c.55090A>G (p.Lys18364Glu)
c.52132A>G (p.Lys17378Glu)
c.33748A>G (p.Lys11250Glu)
c.55243A>G (p.Lys18415Glu)
c.55240A>G (p.Lys18414Glu)
c.54673A>G (p.Lys18225Glu)
c.52015A>G (p.Lys17339Glu)
c.51934A>G (p.Lys17312Glu)
c.33697A>G (p.Lys11233Glu)
c.23551A>G (p.Lys7851Glu)
 gnomAD v4
2g.178590923T>GCA349479414TTN,TTN-AS1c.53098A>C (p.Lys17700Gln)
c.34183A>C (p.Lys11395Gln)
c.33982A>C (p.Lys11328Gln)
c.33607A>C (p.Lys11203Gln)
c.60802A>C (p.Lys20268Gln)
c.55879A>C (p.Lys18627Gln)
n.597-6673T>G
n.3189-216T>G
c.59899A>C (p.Lys19967Gln)
c.33793A>C (p.Lys11265Gln)
c.33652A>C (p.Lys11218Gln)
c.59695A>C (p.Lys19899Gln)
c.55093A>C (p.Lys18365Gln)
c.55090A>C (p.Lys18364Gln)
c.52132A>C (p.Lys17378Gln)
c.33748A>C (p.Lys11250Gln)
c.55243A>C (p.Lys18415Gln)
c.55240A>C (p.Lys18414Gln)
c.54673A>C (p.Lys18225Gln)
c.52015A>C (p.Lys17339Gln)
c.51934A>C (p.Lys17312Gln)
c.33697A>C (p.Lys11233Gln)
c.23551A>C (p.Lys7851Gln)
2g.178590923_178590924insTTTACA2740096091TTN,TTN-AS1c.53097_53098insTAAA (p.Lys17700Ter)
c.34182_34183insTAAA (p.Lys11395Ter)
c.33981_33982insTAAA (p.Lys11328Ter)
c.33606_33607insTAAA (p.Lys11203Ter)
c.60801_60802insTAAA (p.Lys20268Ter)
c.55878_55879insTAAA (p.Lys18627Ter)
n.597-6673_597-6672insTTTA
n.3189-216_3189-215insTTTA
c.59898_59899insTAAA (p.Lys19967Ter)
c.33792_33793insTAAA (p.Lys11265Ter)
c.33651_33652insTAAA (p.Lys11218Ter)
c.59694_59695insTAAA (p.Lys19899Ter)
c.55092_55093insTAAA (p.Lys18365Ter)
c.55089_55090insTAAA (p.Lys18364Ter)
c.52131_52132insTAAA (p.Lys17378Ter)
c.33747_33748insTAAA (p.Lys11250Ter)
c.55242_55243insTAAA (p.Lys18415Ter)
c.55239_55240insTAAA (p.Lys18414Ter)
c.54672_54673insTAAA (p.Lys18225Ter)
c.52014_52015insTAAA (p.Lys17339Ter)
c.51933_51934insTAAA (p.Lys17312Ter)
c.33696_33697insTAAA (p.Lys11233Ter)
c.23550_23551insTAAA (p.Lys7851Ter)
 ClinVar
2g.178590924delCA2662130788TTN,TTN-AS1c.53097del (p.His17699GlnfsTer?)
c.34182del (p.His11394GlnfsTer?)
c.33981del (p.His11327GlnfsTer?)
c.33606del (p.His11202GlnfsTer?)
c.60801del (p.His20267GlnfsTer?)
c.55878del (p.His18626GlnfsTer?)
n.597-6672del
n.3189-215del
c.59898del (p.His19966GlnfsTer?)
c.33792del (p.His11264GlnfsTer?)
c.33651del (p.His11217GlnfsTer?)
c.59694del (p.His19898GlnfsTer?)
c.55092del (p.His18364GlnfsTer?)
c.55089del (p.His18363GlnfsTer?)
c.52131del (p.His17377GlnfsTer?)
c.33747del (p.His11249GlnfsTer?)
c.55242del (p.His18414GlnfsTer?)
c.55239del (p.His18413GlnfsTer?)
c.54672del (p.His18224GlnfsTer?)
c.52014del (p.His17338GlnfsTer?)
c.51933del (p.His17311GlnfsTer?)
c.33696del (p.His11232GlnfsTer?)
c.23550del (p.His7850GlnfsTer?)
 gnomAD v4
2g.178590924A=CA1310539665TTN,TTN-AS1c.53097T= (p.His17699=)
c.34182T= (p.His11394=)
c.33981T= (p.His11327=)
c.33606T= (p.His11202=)
c.60801T= (p.His20267=)
c.55878T= (p.His18626=)
n.597-6672A=
n.3189-215A=
c.59898T= (p.His19966=)
c.33792T= (p.His11264=)
c.33651T= (p.His11217=)
c.59694T= (p.His19898=)
c.55092T= (p.His18364=)
c.55089T= (p.His18363=)
c.52131T= (p.His17377=)
c.33747T= (p.His11249=)
c.55242T= (p.His18414=)
c.55239T= (p.His18413=)
c.54672T= (p.His18224=)
c.52014T= (p.His17338=)
c.51933T= (p.His17311=)
c.33696T= (p.His11232=)
c.23550T= (p.His7850=)
2g.178590924A>CCA349479415TTN,TTN-AS1c.53097T>G (p.His17699Gln)
c.34182T>G (p.His11394Gln)
c.33981T>G (p.His11327Gln)
c.33606T>G (p.His11202Gln)
c.60801T>G (p.His20267Gln)
c.55878T>G (p.His18626Gln)
n.597-6672A>C
n.3189-215A>C
c.59898T>G (p.His19966Gln)
c.33792T>G (p.His11264Gln)
c.33651T>G (p.His11217Gln)
c.59694T>G (p.His19898Gln)
c.55092T>G (p.His18364Gln)
c.55089T>G (p.His18363Gln)
c.52131T>G (p.His17377Gln)
c.33747T>G (p.His11249Gln)
c.55242T>G (p.His18414Gln)
c.55239T>G (p.His18413Gln)
c.54672T>G (p.His18224Gln)
c.52014T>G (p.His17338Gln)
c.51933T>G (p.His17311Gln)
c.33696T>G (p.His11232Gln)
c.23550T>G (p.His7850Gln)
2g.178590924A>GCA430266232TTN,TTN-AS1c.53097T>C (p.His17699=)
c.34182T>C (p.His11394=)
c.33981T>C (p.His11327=)
c.33606T>C (p.His11202=)
c.60801T>C (p.His20267=)
c.55878T>C (p.His18626=)
n.597-6672A>G
n.3189-215A>G
c.59898T>C (p.His19966=)
c.33792T>C (p.His11264=)
c.33651T>C (p.His11217=)
c.59694T>C (p.His19898=)
c.55092T>C (p.His18364=)
c.55089T>C (p.His18363=)
c.52131T>C (p.His17377=)
c.33747T>C (p.His11249=)
c.55242T>C (p.His18414=)
c.55239T>C (p.His18413=)
c.54672T>C (p.His18224=)
c.52014T>C (p.His17338=)
c.51933T>C (p.His17311=)
c.33696T>C (p.His11232=)
c.23550T>C (p.His7850=)
 dbSNP gnomAD v4
2g.178590924A>TCA349479416TTN,TTN-AS1c.53097T>A (p.His17699Gln)
c.34182T>A (p.His11394Gln)
c.33981T>A (p.His11327Gln)
c.33606T>A (p.His11202Gln)
c.60801T>A (p.His20267Gln)
c.55878T>A (p.His18626Gln)
n.597-6672A>T
n.3189-215A>T
c.59898T>A (p.His19966Gln)
c.33792T>A (p.His11264Gln)
c.33651T>A (p.His11217Gln)
c.59694T>A (p.His19898Gln)
c.55092T>A (p.His18364Gln)
c.55089T>A (p.His18363Gln)
c.52131T>A (p.His17377Gln)
c.33747T>A (p.His11249Gln)
c.55242T>A (p.His18414Gln)
c.55239T>A (p.His18413Gln)
c.54672T>A (p.His18224Gln)
c.52014T>A (p.His17338Gln)
c.51933T>A (p.His17311Gln)
c.33696T>A (p.His11232Gln)
c.23550T>A (p.His7850Gln)
2g.178590925T>ACA349479417TTN,TTN-AS1c.53096A>T (p.His17699Leu)
c.34181A>T (p.His11394Leu)
c.33980A>T (p.His11327Leu)
c.33605A>T (p.His11202Leu)
c.60800A>T (p.His20267Leu)
c.55877A>T (p.His18626Leu)
n.597-6671T>A
n.3189-214T>A
c.59897A>T (p.His19966Leu)
c.33791A>T (p.His11264Leu)
c.33650A>T (p.His11217Leu)
c.59693A>T (p.His19898Leu)
c.55091A>T (p.His18364Leu)
c.55088A>T (p.His18363Leu)
c.52130A>T (p.His17377Leu)
c.33746A>T (p.His11249Leu)
c.55241A>T (p.His18414Leu)
c.55238A>T (p.His18413Leu)
c.54671A>T (p.His18224Leu)
c.52013A>T (p.His17338Leu)
c.51932A>T (p.His17311Leu)
c.33695A>T (p.His11232Leu)
c.23549A>T (p.His7850Leu)
2g.178590925T>CCA349479418TTN,TTN-AS1c.53096A>G (p.His17699Arg)
c.34181A>G (p.His11394Arg)
c.33980A>G (p.His11327Arg)
c.33605A>G (p.His11202Arg)
c.60800A>G (p.His20267Arg)
c.55877A>G (p.His18626Arg)
n.597-6671T>C
n.3189-214T>C
c.59897A>G (p.His19966Arg)
c.33791A>G (p.His11264Arg)
c.33650A>G (p.His11217Arg)
c.59693A>G (p.His19898Arg)
c.55091A>G (p.His18364Arg)
c.55088A>G (p.His18363Arg)
c.52130A>G (p.His17377Arg)
c.33746A>G (p.His11249Arg)
c.55241A>G (p.His18414Arg)
c.55238A>G (p.His18413Arg)
c.54671A>G (p.His18224Arg)
c.52013A>G (p.His17338Arg)
c.51932A>G (p.His17311Arg)
c.33695A>G (p.His11232Arg)
c.23549A>G (p.His7850Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178590925T>GCA349479419TTN,TTN-AS1c.53096A>C (p.His17699Pro)
c.34181A>C (p.His11394Pro)
c.33980A>C (p.His11327Pro)
c.33605A>C (p.His11202Pro)
c.60800A>C (p.His20267Pro)
c.55877A>C (p.His18626Pro)
n.597-6671T>G
n.3189-214T>G
c.59897A>C (p.His19966Pro)
c.33791A>C (p.His11264Pro)
c.33650A>C (p.His11217Pro)
c.59693A>C (p.His19898Pro)
c.55091A>C (p.His18364Pro)
c.55088A>C (p.His18363Pro)
c.52130A>C (p.His17377Pro)
c.33746A>C (p.His11249Pro)
c.55241A>C (p.His18414Pro)
c.55238A>C (p.His18413Pro)
c.54671A>C (p.His18224Pro)
c.52013A>C (p.His17338Pro)
c.51932A>C (p.His17311Pro)
c.33695A>C (p.His11232Pro)
c.23549A>C (p.His7850Pro)
2g.178590925T=CA1310539666TTN,TTN-AS1c.53096A= (p.His17699=)
c.34181A= (p.His11394=)
c.33980A= (p.His11327=)
c.33605A= (p.His11202=)
c.60800A= (p.His20267=)
c.55877A= (p.His18626=)
n.597-6671T=
n.3189-214T=
c.59897A= (p.His19966=)
c.33791A= (p.His11264=)
c.33650A= (p.His11217=)
c.59693A= (p.His19898=)
c.55091A= (p.His18364=)
c.55088A= (p.His18363=)
c.52130A= (p.His17377=)
c.33746A= (p.His11249=)
c.55241A= (p.His18414=)
c.55238A= (p.His18413=)
c.54671A= (p.His18224=)
c.52013A= (p.His17338=)
c.51932A= (p.His17311=)
c.33695A= (p.His11232=)
c.23549A= (p.His7850=)
2g.178590926G>ACA349479421TTN,TTN-AS1c.53095C>T (p.His17699Tyr)
c.34180C>T (p.His11394Tyr)
c.33979C>T (p.His11327Tyr)
c.33604C>T (p.His11202Tyr)
c.60799C>T (p.His20267Tyr)
c.55876C>T (p.His18626Tyr)
n.597-6670G>A
n.3189-213G>A
c.59896C>T (p.His19966Tyr)
c.33790C>T (p.His11264Tyr)
c.33649C>T (p.His11217Tyr)
c.59692C>T (p.His19898Tyr)
c.55090C>T (p.His18364Tyr)
c.55087C>T (p.His18363Tyr)
c.52129C>T (p.His17377Tyr)
c.33745C>T (p.His11249Tyr)
c.55240C>T (p.His18414Tyr)
c.55237C>T (p.His18413Tyr)
c.54670C>T (p.His18224Tyr)
c.52012C>T (p.His17338Tyr)
c.51931C>T (p.His17311Tyr)
c.33694C>T (p.His11232Tyr)
c.23548C>T (p.His7850Tyr)
 gnomAD v4
2g.178590926G>CCA349479423TTN,TTN-AS1c.53095C>G (p.His17699Asp)
c.34180C>G (p.His11394Asp)
c.33979C>G (p.His11327Asp)
c.33604C>G (p.His11202Asp)
c.60799C>G (p.His20267Asp)
c.55876C>G (p.His18626Asp)
n.597-6670G>C
n.3189-213G>C
c.59896C>G (p.His19966Asp)
c.33790C>G (p.His11264Asp)
c.33649C>G (p.His11217Asp)
c.59692C>G (p.His19898Asp)
c.55090C>G (p.His18364Asp)
c.55087C>G (p.His18363Asp)
c.52129C>G (p.His17377Asp)
c.33745C>G (p.His11249Asp)
c.55240C>G (p.His18414Asp)
c.55237C>G (p.His18413Asp)
c.54670C>G (p.His18224Asp)
c.52012C>G (p.His17338Asp)
c.51931C>G (p.His17311Asp)
c.33694C>G (p.His11232Asp)
c.23548C>G (p.His7850Asp)
2g.178590926G>TCA349479420TTN,TTN-AS1c.53095C>A (p.His17699Asn)
c.34180C>A (p.His11394Asn)
c.33979C>A (p.His11327Asn)
c.33604C>A (p.His11202Asn)
c.60799C>A (p.His20267Asn)
c.55876C>A (p.His18626Asn)
n.597-6670G>T
n.3189-213G>T
c.59896C>A (p.His19966Asn)
c.33790C>A (p.His11264Asn)
c.33649C>A (p.His11217Asn)
c.59692C>A (p.His19898Asn)
c.55090C>A (p.His18364Asn)
c.55087C>A (p.His18363Asn)
c.52129C>A (p.His17377Asn)
c.33745C>A (p.His11249Asn)
c.55240C>A (p.His18414Asn)
c.55237C>A (p.His18413Asn)
c.54670C>A (p.His18224Asn)
c.52012C>A (p.His17338Asn)
c.51931C>A (p.His17311Asn)
c.33694C>A (p.His11232Asn)
c.23548C>A (p.His7850Asn)
2g.178590927C>ACA349479425TTN,TTN-AS1c.53094G>T (p.Lys17698Asn)
c.34179G>T (p.Lys11393Asn)
c.33978G>T (p.Lys11326Asn)
c.33603G>T (p.Lys11201Asn)
c.60798G>T (p.Lys20266Asn)
c.55875G>T (p.Lys18625Asn)
n.597-6669C>A
n.3189-212C>A
c.59895G>T (p.Lys19965Asn)
c.33789G>T (p.Lys11263Asn)
c.33648G>T (p.Lys11216Asn)
c.59691G>T (p.Lys19897Asn)
c.55089G>T (p.Lys18363Asn)
c.55086G>T (p.Lys18362Asn)
c.52128G>T (p.Lys17376Asn)
c.33744G>T (p.Lys11248Asn)
c.55239G>T (p.Lys18413Asn)
c.55236G>T (p.Lys18412Asn)
c.54669G>T (p.Lys18223Asn)
c.52011G>T (p.Lys17337Asn)
c.51930G>T (p.Lys17310Asn)
c.33693G>T (p.Lys11231Asn)
c.23547G>T (p.Lys7849Asn)
2g.178590927C>GCA349479428TTN,TTN-AS1c.53094G>C (p.Lys17698Asn)
c.34179G>C (p.Lys11393Asn)
c.33978G>C (p.Lys11326Asn)
c.33603G>C (p.Lys11201Asn)
c.60798G>C (p.Lys20266Asn)
c.55875G>C (p.Lys18625Asn)
n.597-6669C>G
n.3189-212C>G
c.59895G>C (p.Lys19965Asn)
c.33789G>C (p.Lys11263Asn)
c.33648G>C (p.Lys11216Asn)
c.59691G>C (p.Lys19897Asn)
c.55089G>C (p.Lys18363Asn)
c.55086G>C (p.Lys18362Asn)
c.52128G>C (p.Lys17376Asn)
c.33744G>C (p.Lys11248Asn)
c.55239G>C (p.Lys18413Asn)
c.55236G>C (p.Lys18412Asn)
c.54669G>C (p.Lys18223Asn)
c.52011G>C (p.Lys17337Asn)
c.51930G>C (p.Lys17310Asn)
c.33693G>C (p.Lys11231Asn)
c.23547G>C (p.Lys7849Asn)
2g.178590927C>TCA430266236TTN,TTN-AS1c.53094G>A (p.Lys17698=)
c.34179G>A (p.Lys11393=)
c.33978G>A (p.Lys11326=)
c.33603G>A (p.Lys11201=)
c.60798G>A (p.Lys20266=)
c.55875G>A (p.Lys18625=)
n.597-6669C>T
n.3189-212C>T
c.59895G>A (p.Lys19965=)
c.33789G>A (p.Lys11263=)
c.33648G>A (p.Lys11216=)
c.59691G>A (p.Lys19897=)
c.55089G>A (p.Lys18363=)
c.55086G>A (p.Lys18362=)
c.52128G>A (p.Lys17376=)
c.33744G>A (p.Lys11248=)
c.55239G>A (p.Lys18413=)
c.55236G>A (p.Lys18412=)
c.54669G>A (p.Lys18223=)
c.52011G>A (p.Lys17337=)
c.51930G>A (p.Lys17310=)
c.33693G>A (p.Lys11231=)
c.23547G>A (p.Lys7849=)
2g.178590928T>ACA349479431TTN,TTN-AS1c.53093A>T (p.Lys17698Met)
c.34178A>T (p.Lys11393Met)
c.33977A>T (p.Lys11326Met)
c.33602A>T (p.Lys11201Met)
c.60797A>T (p.Lys20266Met)
c.55874A>T (p.Lys18625Met)
n.597-6668T>A
n.3189-211T>A
c.59894A>T (p.Lys19965Met)
c.33788A>T (p.Lys11263Met)
c.33647A>T (p.Lys11216Met)
c.59690A>T (p.Lys19897Met)
c.55088A>T (p.Lys18363Met)
c.55085A>T (p.Lys18362Met)
c.52127A>T (p.Lys17376Met)
c.33743A>T (p.Lys11248Met)
c.55238A>T (p.Lys18413Met)
c.55235A>T (p.Lys18412Met)
c.54668A>T (p.Lys18223Met)
c.52010A>T (p.Lys17337Met)
c.51929A>T (p.Lys17310Met)
c.33692A>T (p.Lys11231Met)
c.23546A>T (p.Lys7849Met)
2g.178590928T>CCA349479432TTN,TTN-AS1c.53093A>G (p.Lys17698Arg)
c.34178A>G (p.Lys11393Arg)
c.33977A>G (p.Lys11326Arg)
c.33602A>G (p.Lys11201Arg)
c.60797A>G (p.Lys20266Arg)
c.55874A>G (p.Lys18625Arg)
n.597-6668T>C
n.3189-211T>C
c.59894A>G (p.Lys19965Arg)
c.33788A>G (p.Lys11263Arg)
c.33647A>G (p.Lys11216Arg)
c.59690A>G (p.Lys19897Arg)
c.55088A>G (p.Lys18363Arg)
c.55085A>G (p.Lys18362Arg)
c.52127A>G (p.Lys17376Arg)
c.33743A>G (p.Lys11248Arg)
c.55238A>G (p.Lys18413Arg)
c.55235A>G (p.Lys18412Arg)
c.54668A>G (p.Lys18223Arg)
c.52010A>G (p.Lys17337Arg)
c.51929A>G (p.Lys17310Arg)
c.33692A>G (p.Lys11231Arg)
c.23546A>G (p.Lys7849Arg)
2g.178590928T>GCA349479435TTN,TTN-AS1c.53093A>C (p.Lys17698Thr)
c.34178A>C (p.Lys11393Thr)
c.33977A>C (p.Lys11326Thr)
c.33602A>C (p.Lys11201Thr)
c.60797A>C (p.Lys20266Thr)
c.55874A>C (p.Lys18625Thr)
n.597-6668T>G
n.3189-211T>G
c.59894A>C (p.Lys19965Thr)
c.33788A>C (p.Lys11263Thr)
c.33647A>C (p.Lys11216Thr)
c.59690A>C (p.Lys19897Thr)
c.55088A>C (p.Lys18363Thr)
c.55085A>C (p.Lys18362Thr)
c.52127A>C (p.Lys17376Thr)
c.33743A>C (p.Lys11248Thr)
c.55238A>C (p.Lys18413Thr)
c.55235A>C (p.Lys18412Thr)
c.54668A>C (p.Lys18223Thr)
c.52010A>C (p.Lys17337Thr)
c.51929A>C (p.Lys17310Thr)
c.33692A>C (p.Lys11231Thr)
c.23546A>C (p.Lys7849Thr)
2g.178590929T>ACA349479447TTN,TTN-AS1c.53092A>T (p.Lys17698Ter)
c.34177A>T (p.Lys11393Ter)
c.33976A>T (p.Lys11326Ter)
c.33601A>T (p.Lys11201Ter)
c.60796A>T (p.Lys20266Ter)
c.55873A>T (p.Lys18625Ter)
n.597-6667T>A
n.3189-210T>A
c.59893A>T (p.Lys19965Ter)
c.33787A>T (p.Lys11263Ter)
c.33646A>T (p.Lys11216Ter)
c.59689A>T (p.Lys19897Ter)
c.55087A>T (p.Lys18363Ter)
c.55084A>T (p.Lys18362Ter)
c.52126A>T (p.Lys17376Ter)
c.33742A>T (p.Lys11248Ter)
c.55237A>T (p.Lys18413Ter)
c.55234A>T (p.Lys18412Ter)
c.54667A>T (p.Lys18223Ter)
c.52009A>T (p.Lys17337Ter)
c.51928A>T (p.Lys17310Ter)
c.33691A>T (p.Lys11231Ter)
c.23545A>T (p.Lys7849Ter)
2g.178590929T>CCA1992446TTN,TTN-AS1c.53092A>G (p.Lys17698Glu)
c.34177A>G (p.Lys11393Glu)
c.33976A>G (p.Lys11326Glu)
c.33601A>G (p.Lys11201Glu)
c.60796A>G (p.Lys20266Glu)
c.55873A>G (p.Lys18625Glu)
n.597-6667T>C
n.3189-210T>C
c.59893A>G (p.Lys19965Glu)
c.33787A>G (p.Lys11263Glu)
c.33646A>G (p.Lys11216Glu)
c.59689A>G (p.Lys19897Glu)
c.55087A>G (p.Lys18363Glu)
c.55084A>G (p.Lys18362Glu)
c.52126A>G (p.Lys17376Glu)
c.33742A>G (p.Lys11248Glu)
c.55237A>G (p.Lys18413Glu)
c.55234A>G (p.Lys18412Glu)
c.54667A>G (p.Lys18223Glu)
c.52009A>G (p.Lys17337Glu)
c.51928A>G (p.Lys17310Glu)
c.33691A>G (p.Lys11231Glu)
c.23545A>G (p.Lys7849Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590929T>GCA349479440TTN,TTN-AS1c.53092A>C (p.Lys17698Gln)
c.34177A>C (p.Lys11393Gln)
c.33976A>C (p.Lys11326Gln)
c.33601A>C (p.Lys11201Gln)
c.60796A>C (p.Lys20266Gln)
c.55873A>C (p.Lys18625Gln)
n.597-6667T>G
n.3189-210T>G
c.59893A>C (p.Lys19965Gln)
c.33787A>C (p.Lys11263Gln)
c.33646A>C (p.Lys11216Gln)
c.59689A>C (p.Lys19897Gln)
c.55087A>C (p.Lys18363Gln)
c.55084A>C (p.Lys18362Gln)
c.52126A>C (p.Lys17376Gln)
c.33742A>C (p.Lys11248Gln)
c.55237A>C (p.Lys18413Gln)
c.55234A>C (p.Lys18412Gln)
c.54667A>C (p.Lys18223Gln)
c.52009A>C (p.Lys17337Gln)
c.51928A>C (p.Lys17310Gln)
c.33691A>C (p.Lys11231Gln)
c.23545A>C (p.Lys7849Gln)
2g.178590929T=CA1310539667TTN,TTN-AS1c.53092A= (p.Lys17698=)
c.34177A= (p.Lys11393=)
c.33976A= (p.Lys11326=)
c.33601A= (p.Lys11201=)
c.60796A= (p.Lys20266=)
c.55873A= (p.Lys18625=)
n.597-6667T=
n.3189-210T=
c.59893A= (p.Lys19965=)
c.33787A= (p.Lys11263=)
c.33646A= (p.Lys11216=)
c.59689A= (p.Lys19897=)
c.55087A= (p.Lys18363=)
c.55084A= (p.Lys18362=)
c.52126A= (p.Lys17376=)
c.33742A= (p.Lys11248=)
c.55237A= (p.Lys18413=)
c.55234A= (p.Lys18412=)
c.54667A= (p.Lys18223=)
c.52009A= (p.Lys17337=)
c.51928A= (p.Lys17310=)
c.33691A= (p.Lys11231=)
c.23545A= (p.Lys7849=)
2g.178590930A>CCA430266245TTN,TTN-AS1c.53091T>G (p.Ala17697=)
c.34176T>G (p.Ala11392=)
c.33975T>G (p.Ala11325=)
c.33600T>G (p.Ala11200=)
c.60795T>G (p.Ala20265=)
c.55872T>G (p.Ala18624=)
n.597-6666A>C
n.3189-209A>C
c.59892T>G (p.Ala19964=)
c.33786T>G (p.Ala11262=)
c.33645T>G (p.Ala11215=)
c.59688T>G (p.Ala19896=)
c.55086T>G (p.Ala18362=)
c.55083T>G (p.Ala18361=)
c.52125T>G (p.Ala17375=)
c.33741T>G (p.Ala11247=)
c.55236T>G (p.Ala18412=)
c.55233T>G (p.Ala18411=)
c.54666T>G (p.Ala18222=)
c.52008T>G (p.Ala17336=)
c.51927T>G (p.Ala17309=)
c.33690T>G (p.Ala11230=)
c.23544T>G (p.Ala7848=)
 gnomAD v4
2g.178590930A>GCA430266239TTN,TTN-AS1c.53091T>C (p.Ala17697=)
c.34176T>C (p.Ala11392=)
c.33975T>C (p.Ala11325=)
c.33600T>C (p.Ala11200=)
c.60795T>C (p.Ala20265=)
c.55872T>C (p.Ala18624=)
n.597-6666A>G
n.3189-209A>G
c.59892T>C (p.Ala19964=)
c.33786T>C (p.Ala11262=)
c.33645T>C (p.Ala11215=)
c.59688T>C (p.Ala19896=)
c.55086T>C (p.Ala18362=)
c.55083T>C (p.Ala18361=)
c.52125T>C (p.Ala17375=)
c.33741T>C (p.Ala11247=)
c.55236T>C (p.Ala18412=)
c.55233T>C (p.Ala18411=)
c.54666T>C (p.Ala18222=)
c.52008T>C (p.Ala17336=)
c.51927T>C (p.Ala17309=)
c.33690T>C (p.Ala11230=)
c.23544T>C (p.Ala7848=)
2g.178590930A>TCA430266242TTN,TTN-AS1c.53091T>A (p.Ala17697=)
c.34176T>A (p.Ala11392=)
c.33975T>A (p.Ala11325=)
c.33600T>A (p.Ala11200=)
c.60795T>A (p.Ala20265=)
c.55872T>A (p.Ala18624=)
n.597-6666A>T
n.3189-209A>T
c.59892T>A (p.Ala19964=)
c.33786T>A (p.Ala11262=)
c.33645T>A (p.Ala11215=)
c.59688T>A (p.Ala19896=)
c.55086T>A (p.Ala18362=)
c.55083T>A (p.Ala18361=)
c.52125T>A (p.Ala17375=)
c.33741T>A (p.Ala11247=)
c.55236T>A (p.Ala18412=)
c.55233T>A (p.Ala18411=)
c.54666T>A (p.Ala18222=)
c.52008T>A (p.Ala17336=)
c.51927T>A (p.Ala17309=)
c.33690T>A (p.Ala11230=)
c.23544T>A (p.Ala7848=)
2g.178590931G>ACA349479450TTN,TTN-AS1c.53090C>T (p.Ala17697Val)
c.34175C>T (p.Ala11392Val)
c.33974C>T (p.Ala11325Val)
c.33599C>T (p.Ala11200Val)
c.60794C>T (p.Ala20265Val)
c.55871C>T (p.Ala18624Val)
n.597-6665G>A
n.3189-208G>A
c.59891C>T (p.Ala19964Val)
c.33785C>T (p.Ala11262Val)
c.33644C>T (p.Ala11215Val)
c.59687C>T (p.Ala19896Val)
c.55085C>T (p.Ala18362Val)
c.55082C>T (p.Ala18361Val)
c.52124C>T (p.Ala17375Val)
c.33740C>T (p.Ala11247Val)
c.55235C>T (p.Ala18412Val)
c.55232C>T (p.Ala18411Val)
c.54665C>T (p.Ala18222Val)
c.52007C>T (p.Ala17336Val)
c.51926C>T (p.Ala17309Val)
c.33689C>T (p.Ala11230Val)
c.23543C>T (p.Ala7848Val)
2g.178590931G>CCA349479453TTN,TTN-AS1c.53090C>G (p.Ala17697Gly)
c.34175C>G (p.Ala11392Gly)
c.33974C>G (p.Ala11325Gly)
c.33599C>G (p.Ala11200Gly)
c.60794C>G (p.Ala20265Gly)
c.55871C>G (p.Ala18624Gly)
n.597-6665G>C
n.3189-208G>C
c.59891C>G (p.Ala19964Gly)
c.33785C>G (p.Ala11262Gly)
c.33644C>G (p.Ala11215Gly)
c.59687C>G (p.Ala19896Gly)
c.55085C>G (p.Ala18362Gly)
c.55082C>G (p.Ala18361Gly)
c.52124C>G (p.Ala17375Gly)
c.33740C>G (p.Ala11247Gly)
c.55235C>G (p.Ala18412Gly)
c.55232C>G (p.Ala18411Gly)
c.54665C>G (p.Ala18222Gly)
c.52007C>G (p.Ala17336Gly)
c.51926C>G (p.Ala17309Gly)
c.33689C>G (p.Ala11230Gly)
c.23543C>G (p.Ala7848Gly)
2g.178590931G>TCA349479455TTN,TTN-AS1c.53090C>A (p.Ala17697Asp)
c.34175C>A (p.Ala11392Asp)
c.33974C>A (p.Ala11325Asp)
c.33599C>A (p.Ala11200Asp)
c.60794C>A (p.Ala20265Asp)
c.55871C>A (p.Ala18624Asp)
n.597-6665G>T
n.3189-208G>T
c.59891C>A (p.Ala19964Asp)
c.33785C>A (p.Ala11262Asp)
c.33644C>A (p.Ala11215Asp)
c.59687C>A (p.Ala19896Asp)
c.55085C>A (p.Ala18362Asp)
c.55082C>A (p.Ala18361Asp)
c.52124C>A (p.Ala17375Asp)
c.33740C>A (p.Ala11247Asp)
c.55235C>A (p.Ala18412Asp)
c.55232C>A (p.Ala18411Asp)
c.54665C>A (p.Ala18222Asp)
c.52007C>A (p.Ala17336Asp)
c.51926C>A (p.Ala17309Asp)
c.33689C>A (p.Ala11230Asp)
c.23543C>A (p.Ala7848Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178590932C>ACA349479460TTN,TTN-AS1c.53089G>T (p.Ala17697Ser)
c.34174G>T (p.Ala11392Ser)
c.33973G>T (p.Ala11325Ser)
c.33598G>T (p.Ala11200Ser)
c.60793G>T (p.Ala20265Ser)
c.55870G>T (p.Ala18624Ser)
n.597-6664C>A
n.3189-207C>A
c.59890G>T (p.Ala19964Ser)
c.33784G>T (p.Ala11262Ser)
c.33643G>T (p.Ala11215Ser)
c.59686G>T (p.Ala19896Ser)
c.55084G>T (p.Ala18362Ser)
c.55081G>T (p.Ala18361Ser)
c.52123G>T (p.Ala17375Ser)
c.33739G>T (p.Ala11247Ser)
c.55234G>T (p.Ala18412Ser)
c.55231G>T (p.Ala18411Ser)
c.54664G>T (p.Ala18222Ser)
c.52006G>T (p.Ala17336Ser)
c.51925G>T (p.Ala17309Ser)
c.33688G>T (p.Ala11230Ser)
c.23542G>T (p.Ala7848Ser)

Number of alleles fetched