Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178539876C>ACA349433411TTN,TTN-AS1c.90485G>T (p.Gly30162Val)
c.71570G>T (p.Gly23857Val)
c.71369G>T (p.Gly23790Val)
c.70994G>T (p.Gly23665Val)
c.98189G>T (p.Gly32730Val)
c.93266G>T (p.Gly31089Val)
n.446+16240C>A
n.1826C>A
c.97286G>T (p.Gly32429Val)
c.71180G>T (p.Gly23727Val)
c.71039G>T (p.Gly23680Val)
c.97082G>T (p.Gly32361Val)
c.92480G>T (p.Gly30827Val)
c.92477G>T (p.Gly30826Val)
c.89519G>T (p.Gly29840Val)
c.71135G>T (p.Gly23712Val)
c.92630G>T (p.Gly30877Val)
c.92627G>T (p.Gly30876Val)
c.92060G>T (p.Gly30687Val)
c.89402G>T (p.Gly29801Val)
c.89321G>T (p.Gly29774Val)
c.71084G>T (p.Gly23695Val)
c.60938G>T (p.Gly20313Val)
2g.178539876C>GCA349433413TTN,TTN-AS1c.90485G>C (p.Gly30162Ala)
c.71570G>C (p.Gly23857Ala)
c.71369G>C (p.Gly23790Ala)
c.70994G>C (p.Gly23665Ala)
c.98189G>C (p.Gly32730Ala)
c.93266G>C (p.Gly31089Ala)
n.446+16240C>G
n.1826C>G
c.97286G>C (p.Gly32429Ala)
c.71180G>C (p.Gly23727Ala)
c.71039G>C (p.Gly23680Ala)
c.97082G>C (p.Gly32361Ala)
c.92480G>C (p.Gly30827Ala)
c.92477G>C (p.Gly30826Ala)
c.89519G>C (p.Gly29840Ala)
c.71135G>C (p.Gly23712Ala)
c.92630G>C (p.Gly30877Ala)
c.92627G>C (p.Gly30876Ala)
c.92060G>C (p.Gly30687Ala)
c.89402G>C (p.Gly29801Ala)
c.89321G>C (p.Gly29774Ala)
c.71084G>C (p.Gly23695Ala)
c.60938G>C (p.Gly20313Ala)
2g.178539876C>TCA349433414TTN,TTN-AS1c.90485G>A (p.Gly30162Glu)
c.71570G>A (p.Gly23857Glu)
c.71369G>A (p.Gly23790Glu)
c.70994G>A (p.Gly23665Glu)
c.98189G>A (p.Gly32730Glu)
c.93266G>A (p.Gly31089Glu)
n.446+16240C>T
n.1826C>T
c.97286G>A (p.Gly32429Glu)
c.71180G>A (p.Gly23727Glu)
c.71039G>A (p.Gly23680Glu)
c.97082G>A (p.Gly32361Glu)
c.92480G>A (p.Gly30827Glu)
c.92477G>A (p.Gly30826Glu)
c.89519G>A (p.Gly29840Glu)
c.71135G>A (p.Gly23712Glu)
c.92630G>A (p.Gly30877Glu)
c.92627G>A (p.Gly30876Glu)
c.92060G>A (p.Gly30687Glu)
c.89402G>A (p.Gly29801Glu)
c.89321G>A (p.Gly29774Glu)
c.71084G>A (p.Gly23695Glu)
c.60938G>A (p.Gly20313Glu)
 COSMIC COSMIC COSMIC COSMIC
2g.178539877C>ACA349433421TTN,TTN-AS1c.90484G>T (p.Gly30162Ter)
c.71569G>T (p.Gly23857Ter)
c.71368G>T (p.Gly23790Ter)
c.70993G>T (p.Gly23665Ter)
c.98188G>T (p.Gly32730Ter)
c.93265G>T (p.Gly31089Ter)
n.446+16241C>A
n.1827C>A
c.97285G>T (p.Gly32429Ter)
c.71179G>T (p.Gly23727Ter)
c.71038G>T (p.Gly23680Ter)
c.97081G>T (p.Gly32361Ter)
c.92479G>T (p.Gly30827Ter)
c.92476G>T (p.Gly30826Ter)
c.89518G>T (p.Gly29840Ter)
c.71134G>T (p.Gly23712Ter)
c.92629G>T (p.Gly30877Ter)
c.92626G>T (p.Gly30876Ter)
c.92059G>T (p.Gly30687Ter)
c.89401G>T (p.Gly29801Ter)
c.89320G>T (p.Gly29774Ter)
c.71083G>T (p.Gly23695Ter)
c.60937G>T (p.Gly20313Ter)
2g.178539877C>GCA349433415TTN,TTN-AS1c.90484G>C (p.Gly30162Arg)
c.71569G>C (p.Gly23857Arg)
c.71368G>C (p.Gly23790Arg)
c.70993G>C (p.Gly23665Arg)
c.98188G>C (p.Gly32730Arg)
c.93265G>C (p.Gly31089Arg)
n.446+16241C>G
n.1827C>G
c.97285G>C (p.Gly32429Arg)
c.71179G>C (p.Gly23727Arg)
c.71038G>C (p.Gly23680Arg)
c.97081G>C (p.Gly32361Arg)
c.92479G>C (p.Gly30827Arg)
c.92476G>C (p.Gly30826Arg)
c.89518G>C (p.Gly29840Arg)
c.71134G>C (p.Gly23712Arg)
c.92629G>C (p.Gly30877Arg)
c.92626G>C (p.Gly30876Arg)
c.92059G>C (p.Gly30687Arg)
c.89401G>C (p.Gly29801Arg)
c.89320G>C (p.Gly29774Arg)
c.71083G>C (p.Gly23695Arg)
c.60937G>C (p.Gly20313Arg)
2g.178539877C>TCA349433418TTN,TTN-AS1c.90484G>A (p.Gly30162Arg)
c.71569G>A (p.Gly23857Arg)
c.71368G>A (p.Gly23790Arg)
c.70993G>A (p.Gly23665Arg)
c.98188G>A (p.Gly32730Arg)
c.93265G>A (p.Gly31089Arg)
n.446+16241C>T
n.1827C>T
c.97285G>A (p.Gly32429Arg)
c.71179G>A (p.Gly23727Arg)
c.71038G>A (p.Gly23680Arg)
c.97081G>A (p.Gly32361Arg)
c.92479G>A (p.Gly30827Arg)
c.92476G>A (p.Gly30826Arg)
c.89518G>A (p.Gly29840Arg)
c.71134G>A (p.Gly23712Arg)
c.92629G>A (p.Gly30877Arg)
c.92626G>A (p.Gly30876Arg)
c.92059G>A (p.Gly30687Arg)
c.89401G>A (p.Gly29801Arg)
c.89320G>A (p.Gly29774Arg)
c.71083G>A (p.Gly23695Arg)
c.60937G>A (p.Gly20313Arg)
2g.178539878T>ACA349433424TTN,TTN-AS1c.90483A>T (p.Lys30161Asn)
c.71568A>T (p.Lys23856Asn)
c.71367A>T (p.Lys23789Asn)
c.70992A>T (p.Lys23664Asn)
c.98187A>T (p.Lys32729Asn)
c.93264A>T (p.Lys31088Asn)
n.446+16242T>A
n.1828T>A
c.97284A>T (p.Lys32428Asn)
c.71178A>T (p.Lys23726Asn)
c.71037A>T (p.Lys23679Asn)
c.97080A>T (p.Lys32360Asn)
c.92478A>T (p.Lys30826Asn)
c.92475A>T (p.Lys30825Asn)
c.89517A>T (p.Lys29839Asn)
c.71133A>T (p.Lys23711Asn)
c.92628A>T (p.Lys30876Asn)
c.92625A>T (p.Lys30875Asn)
c.92058A>T (p.Lys30686Asn)
c.89400A>T (p.Lys29800Asn)
c.89319A>T (p.Lys29773Asn)
c.71082A>T (p.Lys23694Asn)
c.60936A>T (p.Lys20312Asn)
2g.178539878T>CCA430240801TTN,TTN-AS1c.90483A>G (p.Lys30161=)
c.71568A>G (p.Lys23856=)
c.71367A>G (p.Lys23789=)
c.70992A>G (p.Lys23664=)
c.98187A>G (p.Lys32729=)
c.93264A>G (p.Lys31088=)
n.446+16242T>C
n.1828T>C
c.97284A>G (p.Lys32428=)
c.71178A>G (p.Lys23726=)
c.71037A>G (p.Lys23679=)
c.97080A>G (p.Lys32360=)
c.92478A>G (p.Lys30826=)
c.92475A>G (p.Lys30825=)
c.89517A>G (p.Lys29839=)
c.71133A>G (p.Lys23711=)
c.92628A>G (p.Lys30876=)
c.92625A>G (p.Lys30875=)
c.92058A>G (p.Lys30686=)
c.89400A>G (p.Lys29800=)
c.89319A>G (p.Lys29773=)
c.71082A>G (p.Lys23694=)
c.60936A>G (p.Lys20312=)
2g.178539878T>GCA349433425TTN,TTN-AS1c.90483A>C (p.Lys30161Asn)
c.71568A>C (p.Lys23856Asn)
c.71367A>C (p.Lys23789Asn)
c.70992A>C (p.Lys23664Asn)
c.98187A>C (p.Lys32729Asn)
c.93264A>C (p.Lys31088Asn)
n.446+16242T>G
n.1828T>G
c.97284A>C (p.Lys32428Asn)
c.71178A>C (p.Lys23726Asn)
c.71037A>C (p.Lys23679Asn)
c.97080A>C (p.Lys32360Asn)
c.92478A>C (p.Lys30826Asn)
c.92475A>C (p.Lys30825Asn)
c.89517A>C (p.Lys29839Asn)
c.71133A>C (p.Lys23711Asn)
c.92628A>C (p.Lys30876Asn)
c.92625A>C (p.Lys30875Asn)
c.92058A>C (p.Lys30686Asn)
c.89400A>C (p.Lys29800Asn)
c.89319A>C (p.Lys29773Asn)
c.71082A>C (p.Lys23694Asn)
c.60936A>C (p.Lys20312Asn)
2g.178539879T>ACA349433427TTN,TTN-AS1c.90482A>T (p.Lys30161Ile)
c.71567A>T (p.Lys23856Ile)
c.71366A>T (p.Lys23789Ile)
c.70991A>T (p.Lys23664Ile)
c.98186A>T (p.Lys32729Ile)
c.93263A>T (p.Lys31088Ile)
n.446+16243T>A
n.1829T>A
c.97283A>T (p.Lys32428Ile)
c.71177A>T (p.Lys23726Ile)
c.71036A>T (p.Lys23679Ile)
c.97079A>T (p.Lys32360Ile)
c.92477A>T (p.Lys30826Ile)
c.92474A>T (p.Lys30825Ile)
c.89516A>T (p.Lys29839Ile)
c.71132A>T (p.Lys23711Ile)
c.92627A>T (p.Lys30876Ile)
c.92624A>T (p.Lys30875Ile)
c.92057A>T (p.Lys30686Ile)
c.89399A>T (p.Lys29800Ile)
c.89318A>T (p.Lys29773Ile)
c.71081A>T (p.Lys23694Ile)
c.60935A>T (p.Lys20312Ile)
2g.178539879T>CCA349433429TTN,TTN-AS1c.90482A>G (p.Lys30161Arg)
c.71567A>G (p.Lys23856Arg)
c.71366A>G (p.Lys23789Arg)
c.70991A>G (p.Lys23664Arg)
c.98186A>G (p.Lys32729Arg)
c.93263A>G (p.Lys31088Arg)
n.446+16243T>C
n.1829T>C
c.97283A>G (p.Lys32428Arg)
c.71177A>G (p.Lys23726Arg)
c.71036A>G (p.Lys23679Arg)
c.97079A>G (p.Lys32360Arg)
c.92477A>G (p.Lys30826Arg)
c.92474A>G (p.Lys30825Arg)
c.89516A>G (p.Lys29839Arg)
c.71132A>G (p.Lys23711Arg)
c.92627A>G (p.Lys30876Arg)
c.92624A>G (p.Lys30875Arg)
c.92057A>G (p.Lys30686Arg)
c.89399A>G (p.Lys29800Arg)
c.89318A>G (p.Lys29773Arg)
c.71081A>G (p.Lys23694Arg)
c.60935A>G (p.Lys20312Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178539879T>GCA349433431TTN,TTN-AS1c.90482A>C (p.Lys30161Thr)
c.71567A>C (p.Lys23856Thr)
c.71366A>C (p.Lys23789Thr)
c.70991A>C (p.Lys23664Thr)
c.98186A>C (p.Lys32729Thr)
c.93263A>C (p.Lys31088Thr)
n.446+16243T>G
n.1829T>G
c.97283A>C (p.Lys32428Thr)
c.71177A>C (p.Lys23726Thr)
c.71036A>C (p.Lys23679Thr)
c.97079A>C (p.Lys32360Thr)
c.92477A>C (p.Lys30826Thr)
c.92474A>C (p.Lys30825Thr)
c.89516A>C (p.Lys29839Thr)
c.71132A>C (p.Lys23711Thr)
c.92627A>C (p.Lys30876Thr)
c.92624A>C (p.Lys30875Thr)
c.92057A>C (p.Lys30686Thr)
c.89399A>C (p.Lys29800Thr)
c.89318A>C (p.Lys29773Thr)
c.71081A>C (p.Lys23694Thr)
c.60935A>C (p.Lys20312Thr)
 dbSNP gnomAD v4
2g.178539879T=CA1310516523TTN,TTN-AS1c.90482A= (p.Lys30161=)
c.71567A= (p.Lys23856=)
c.71366A= (p.Lys23789=)
c.70991A= (p.Lys23664=)
c.98186A= (p.Lys32729=)
c.93263A= (p.Lys31088=)
n.446+16243T=
n.1829T=
c.97283A= (p.Lys32428=)
c.71177A= (p.Lys23726=)
c.71036A= (p.Lys23679=)
c.97079A= (p.Lys32360=)
c.92477A= (p.Lys30826=)
c.92474A= (p.Lys30825=)
c.89516A= (p.Lys29839=)
c.71132A= (p.Lys23711=)
c.92627A= (p.Lys30876=)
c.92624A= (p.Lys30875=)
c.92057A= (p.Lys30686=)
c.89399A= (p.Lys29800=)
c.89318A= (p.Lys29773=)
c.71081A= (p.Lys23694=)
c.60935A= (p.Lys20312=)
2g.178539880T>ACA349433433TTN,TTN-AS1c.90481A>T (p.Lys30161Ter)
c.71566A>T (p.Lys23856Ter)
c.71365A>T (p.Lys23789Ter)
c.70990A>T (p.Lys23664Ter)
c.98185A>T (p.Lys32729Ter)
c.93262A>T (p.Lys31088Ter)
n.446+16244T>A
n.1830T>A
c.97282A>T (p.Lys32428Ter)
c.71176A>T (p.Lys23726Ter)
c.71035A>T (p.Lys23679Ter)
c.97078A>T (p.Lys32360Ter)
c.92476A>T (p.Lys30826Ter)
c.92473A>T (p.Lys30825Ter)
c.89515A>T (p.Lys29839Ter)
c.71131A>T (p.Lys23711Ter)
c.92626A>T (p.Lys30876Ter)
c.92623A>T (p.Lys30875Ter)
c.92056A>T (p.Lys30686Ter)
c.89398A>T (p.Lys29800Ter)
c.89317A>T (p.Lys29773Ter)
c.71080A>T (p.Lys23694Ter)
c.60934A>T (p.Lys20312Ter)
2g.178539880T>CCA349433435TTN,TTN-AS1c.90481A>G (p.Lys30161Glu)
c.71566A>G (p.Lys23856Glu)
c.71365A>G (p.Lys23789Glu)
c.70990A>G (p.Lys23664Glu)
c.98185A>G (p.Lys32729Glu)
c.93262A>G (p.Lys31088Glu)
n.446+16244T>C
n.1830T>C
c.97282A>G (p.Lys32428Glu)
c.71176A>G (p.Lys23726Glu)
c.71035A>G (p.Lys23679Glu)
c.97078A>G (p.Lys32360Glu)
c.92476A>G (p.Lys30826Glu)
c.92473A>G (p.Lys30825Glu)
c.89515A>G (p.Lys29839Glu)
c.71131A>G (p.Lys23711Glu)
c.92626A>G (p.Lys30876Glu)
c.92623A>G (p.Lys30875Glu)
c.92056A>G (p.Lys30686Glu)
c.89398A>G (p.Lys29800Glu)
c.89317A>G (p.Lys29773Glu)
c.71080A>G (p.Lys23694Glu)
c.60934A>G (p.Lys20312Glu)
2g.178539880T>GCA349433437TTN,TTN-AS1c.90481A>C (p.Lys30161Gln)
c.71566A>C (p.Lys23856Gln)
c.71365A>C (p.Lys23789Gln)
c.70990A>C (p.Lys23664Gln)
c.98185A>C (p.Lys32729Gln)
c.93262A>C (p.Lys31088Gln)
n.446+16244T>G
n.1830T>G
c.97282A>C (p.Lys32428Gln)
c.71176A>C (p.Lys23726Gln)
c.71035A>C (p.Lys23679Gln)
c.97078A>C (p.Lys32360Gln)
c.92476A>C (p.Lys30826Gln)
c.92473A>C (p.Lys30825Gln)
c.89515A>C (p.Lys29839Gln)
c.71131A>C (p.Lys23711Gln)
c.92626A>C (p.Lys30876Gln)
c.92623A>C (p.Lys30875Gln)
c.92056A>C (p.Lys30686Gln)
c.89398A>C (p.Lys29800Gln)
c.89317A>C (p.Lys29773Gln)
c.71080A>C (p.Lys23694Gln)
c.60934A>C (p.Lys20312Gln)
2g.178539881G>ACA430240816TTN,TTN-AS1c.90480C>T (p.Ile30160=)
c.71565C>T (p.Ile23855=)
c.71364C>T (p.Ile23788=)
c.70989C>T (p.Ile23663=)
c.98184C>T (p.Ile32728=)
c.93261C>T (p.Ile31087=)
n.446+16245G>A
n.1831G>A
c.97281C>T (p.Ile32427=)
c.71175C>T (p.Ile23725=)
c.71034C>T (p.Ile23678=)
c.97077C>T (p.Ile32359=)
c.92475C>T (p.Ile30825=)
c.92472C>T (p.Ile30824=)
c.89514C>T (p.Ile29838=)
c.71130C>T (p.Ile23710=)
c.92625C>T (p.Ile30875=)
c.92622C>T (p.Ile30874=)
c.92055C>T (p.Ile30685=)
c.89397C>T (p.Ile29799=)
c.89316C>T (p.Ile29772=)
c.71079C>T (p.Ile23693=)
c.60933C>T (p.Ile20311=)
2g.178539881G>CCA349433439TTN,TTN-AS1c.90480C>G (p.Ile30160Met)
c.71565C>G (p.Ile23855Met)
c.71364C>G (p.Ile23788Met)
c.70989C>G (p.Ile23663Met)
c.98184C>G (p.Ile32728Met)
c.93261C>G (p.Ile31087Met)
n.446+16245G>C
n.1831G>C
c.97281C>G (p.Ile32427Met)
c.71175C>G (p.Ile23725Met)
c.71034C>G (p.Ile23678Met)
c.97077C>G (p.Ile32359Met)
c.92475C>G (p.Ile30825Met)
c.92472C>G (p.Ile30824Met)
c.89514C>G (p.Ile29838Met)
c.71130C>G (p.Ile23710Met)
c.92625C>G (p.Ile30875Met)
c.92622C>G (p.Ile30874Met)
c.92055C>G (p.Ile30685Met)
c.89397C>G (p.Ile29799Met)
c.89316C>G (p.Ile29772Met)
c.71079C>G (p.Ile23693Met)
c.60933C>G (p.Ile20311Met)
2g.178539881G>TCA430240812TTN,TTN-AS1c.90480C>A (p.Ile30160=)
c.71565C>A (p.Ile23855=)
c.71364C>A (p.Ile23788=)
c.70989C>A (p.Ile23663=)
c.98184C>A (p.Ile32728=)
c.93261C>A (p.Ile31087=)
n.446+16245G>T
n.1831G>T
c.97281C>A (p.Ile32427=)
c.71175C>A (p.Ile23725=)
c.71034C>A (p.Ile23678=)
c.97077C>A (p.Ile32359=)
c.92475C>A (p.Ile30825=)
c.92472C>A (p.Ile30824=)
c.89514C>A (p.Ile29838=)
c.71130C>A (p.Ile23710=)
c.92625C>A (p.Ile30875=)
c.92622C>A (p.Ile30874=)
c.92055C>A (p.Ile30685=)
c.89397C>A (p.Ile29799=)
c.89316C>A (p.Ile29772=)
c.71079C>A (p.Ile23693=)
c.60933C>A (p.Ile20311=)
2g.178539882A=CA1310516524TTN,TTN-AS1c.90479T= (p.Ile30160=)
c.71564T= (p.Ile23855=)
c.71363T= (p.Ile23788=)
c.70988T= (p.Ile23663=)
c.98183T= (p.Ile32728=)
c.93260T= (p.Ile31087=)
n.446+16246A=
n.1832A=
c.97280T= (p.Ile32427=)
c.71174T= (p.Ile23725=)
c.71033T= (p.Ile23678=)
c.97076T= (p.Ile32359=)
c.92474T= (p.Ile30825=)
c.92471T= (p.Ile30824=)
c.89513T= (p.Ile29838=)
c.71129T= (p.Ile23710=)
c.92624T= (p.Ile30875=)
c.92621T= (p.Ile30874=)
c.92054T= (p.Ile30685=)
c.89396T= (p.Ile29799=)
c.89315T= (p.Ile29772=)
c.71078T= (p.Ile23693=)
c.60932T= (p.Ile20311=)
2g.178539882A>CCA349433441TTN,TTN-AS1c.90479T>G (p.Ile30160Ser)
c.71564T>G (p.Ile23855Ser)
c.71363T>G (p.Ile23788Ser)
c.70988T>G (p.Ile23663Ser)
c.98183T>G (p.Ile32728Ser)
c.93260T>G (p.Ile31087Ser)
n.446+16246A>C
n.1832A>C
c.97280T>G (p.Ile32427Ser)
c.71174T>G (p.Ile23725Ser)
c.71033T>G (p.Ile23678Ser)
c.97076T>G (p.Ile32359Ser)
c.92474T>G (p.Ile30825Ser)
c.92471T>G (p.Ile30824Ser)
c.89513T>G (p.Ile29838Ser)
c.71129T>G (p.Ile23710Ser)
c.92624T>G (p.Ile30875Ser)
c.92621T>G (p.Ile30874Ser)
c.92054T>G (p.Ile30685Ser)
c.89396T>G (p.Ile29799Ser)
c.89315T>G (p.Ile29772Ser)
c.71078T>G (p.Ile23693Ser)
c.60932T>G (p.Ile20311Ser)
2g.178539882A>GCA349433443TTN,TTN-AS1c.90479T>C (p.Ile30160Thr)
c.71564T>C (p.Ile23855Thr)
c.71363T>C (p.Ile23788Thr)
c.70988T>C (p.Ile23663Thr)
c.98183T>C (p.Ile32728Thr)
c.93260T>C (p.Ile31087Thr)
n.446+16246A>G
n.1832A>G
c.97280T>C (p.Ile32427Thr)
c.71174T>C (p.Ile23725Thr)
c.71033T>C (p.Ile23678Thr)
c.97076T>C (p.Ile32359Thr)
c.92474T>C (p.Ile30825Thr)
c.92471T>C (p.Ile30824Thr)
c.89513T>C (p.Ile29838Thr)
c.71129T>C (p.Ile23710Thr)
c.92624T>C (p.Ile30875Thr)
c.92621T>C (p.Ile30874Thr)
c.92054T>C (p.Ile30685Thr)
c.89396T>C (p.Ile29799Thr)
c.89315T>C (p.Ile29772Thr)
c.71078T>C (p.Ile23693Thr)
c.60932T>C (p.Ile20311Thr)
2g.178539882A>TCA1986414TTN,TTN-AS1c.90479T>A (p.Ile30160Asn)
c.71564T>A (p.Ile23855Asn)
c.71363T>A (p.Ile23788Asn)
c.70988T>A (p.Ile23663Asn)
c.98183T>A (p.Ile32728Asn)
c.93260T>A (p.Ile31087Asn)
n.446+16246A>T
n.1832A>T
c.97280T>A (p.Ile32427Asn)
c.71174T>A (p.Ile23725Asn)
c.71033T>A (p.Ile23678Asn)
c.97076T>A (p.Ile32359Asn)
c.92474T>A (p.Ile30825Asn)
c.92471T>A (p.Ile30824Asn)
c.89513T>A (p.Ile29838Asn)
c.71129T>A (p.Ile23710Asn)
c.92624T>A (p.Ile30875Asn)
c.92621T>A (p.Ile30874Asn)
c.92054T>A (p.Ile30685Asn)
c.89396T>A (p.Ile29799Asn)
c.89315T>A (p.Ile29772Asn)
c.71078T>A (p.Ile23693Asn)
c.60932T>A (p.Ile20311Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178539883T>ACA349433445TTN,TTN-AS1c.90478A>T (p.Ile30160Phe)
c.71563A>T (p.Ile23855Phe)
c.71362A>T (p.Ile23788Phe)
c.70987A>T (p.Ile23663Phe)
c.98182A>T (p.Ile32728Phe)
c.93259A>T (p.Ile31087Phe)
n.446+16247T>A
n.1833T>A
c.97279A>T (p.Ile32427Phe)
c.71173A>T (p.Ile23725Phe)
c.71032A>T (p.Ile23678Phe)
c.97075A>T (p.Ile32359Phe)
c.92473A>T (p.Ile30825Phe)
c.92470A>T (p.Ile30824Phe)
c.89512A>T (p.Ile29838Phe)
c.71128A>T (p.Ile23710Phe)
c.92623A>T (p.Ile30875Phe)
c.92620A>T (p.Ile30874Phe)
c.92053A>T (p.Ile30685Phe)
c.89395A>T (p.Ile29799Phe)
c.89314A>T (p.Ile29772Phe)
c.71077A>T (p.Ile23693Phe)
c.60931A>T (p.Ile20311Phe)
2g.178539883T>CCA349433447TTN,TTN-AS1c.90478A>G (p.Ile30160Val)
c.71563A>G (p.Ile23855Val)
c.71362A>G (p.Ile23788Val)
c.70987A>G (p.Ile23663Val)
c.98182A>G (p.Ile32728Val)
c.93259A>G (p.Ile31087Val)
n.446+16247T>C
n.1833T>C
c.97279A>G (p.Ile32427Val)
c.71173A>G (p.Ile23725Val)
c.71032A>G (p.Ile23678Val)
c.97075A>G (p.Ile32359Val)
c.92473A>G (p.Ile30825Val)
c.92470A>G (p.Ile30824Val)
c.89512A>G (p.Ile29838Val)
c.71128A>G (p.Ile23710Val)
c.92623A>G (p.Ile30875Val)
c.92620A>G (p.Ile30874Val)
c.92053A>G (p.Ile30685Val)
c.89395A>G (p.Ile29799Val)
c.89314A>G (p.Ile29772Val)
c.71077A>G (p.Ile23693Val)
c.60931A>G (p.Ile20311Val)
 gnomAD v4
2g.178539883T>GCA349433446TTN,TTN-AS1c.90478A>C (p.Ile30160Leu)
c.71563A>C (p.Ile23855Leu)
c.71362A>C (p.Ile23788Leu)
c.70987A>C (p.Ile23663Leu)
c.98182A>C (p.Ile32728Leu)
c.93259A>C (p.Ile31087Leu)
n.446+16247T>G
n.1833T>G
c.97279A>C (p.Ile32427Leu)
c.71173A>C (p.Ile23725Leu)
c.71032A>C (p.Ile23678Leu)
c.97075A>C (p.Ile32359Leu)
c.92473A>C (p.Ile30825Leu)
c.92470A>C (p.Ile30824Leu)
c.89512A>C (p.Ile29838Leu)
c.71128A>C (p.Ile23710Leu)
c.92623A>C (p.Ile30875Leu)
c.92620A>C (p.Ile30874Leu)
c.92053A>C (p.Ile30685Leu)
c.89395A>C (p.Ile29799Leu)
c.89314A>C (p.Ile29772Leu)
c.71077A>C (p.Ile23693Leu)
c.60931A>C (p.Ile20311Leu)
2g.178539884T>ACA430240822TTN,TTN-AS1c.90477A>T (p.Pro30159=)
c.71562A>T (p.Pro23854=)
c.71361A>T (p.Pro23787=)
c.70986A>T (p.Pro23662=)
c.98181A>T (p.Pro32727=)
c.93258A>T (p.Pro31086=)
n.446+16248T>A
n.1834T>A
c.97278A>T (p.Pro32426=)
c.71172A>T (p.Pro23724=)
c.71031A>T (p.Pro23677=)
c.97074A>T (p.Pro32358=)
c.92472A>T (p.Pro30824=)
c.92469A>T (p.Pro30823=)
c.89511A>T (p.Pro29837=)
c.71127A>T (p.Pro23709=)
c.92622A>T (p.Pro30874=)
c.92619A>T (p.Pro30873=)
c.92052A>T (p.Pro30684=)
c.89394A>T (p.Pro29798=)
c.89313A>T (p.Pro29771=)
c.71076A>T (p.Pro23692=)
c.60930A>T (p.Pro20310=)
2g.178539884T>CCA430240823TTN,TTN-AS1c.90477A>G (p.Pro30159=)
c.71562A>G (p.Pro23854=)
c.71361A>G (p.Pro23787=)
c.70986A>G (p.Pro23662=)
c.98181A>G (p.Pro32727=)
c.93258A>G (p.Pro31086=)
n.446+16248T>C
n.1834T>C
c.97278A>G (p.Pro32426=)
c.71172A>G (p.Pro23724=)
c.71031A>G (p.Pro23677=)
c.97074A>G (p.Pro32358=)
c.92472A>G (p.Pro30824=)
c.92469A>G (p.Pro30823=)
c.89511A>G (p.Pro29837=)
c.71127A>G (p.Pro23709=)
c.92622A>G (p.Pro30874=)
c.92619A>G (p.Pro30873=)
c.92052A>G (p.Pro30684=)
c.89394A>G (p.Pro29798=)
c.89313A>G (p.Pro29771=)
c.71076A>G (p.Pro23692=)
c.60930A>G (p.Pro20310=)
2g.178539884T>GCA430240824TTN,TTN-AS1c.90477A>C (p.Pro30159=)
c.71562A>C (p.Pro23854=)
c.71361A>C (p.Pro23787=)
c.70986A>C (p.Pro23662=)
c.98181A>C (p.Pro32727=)
c.93258A>C (p.Pro31086=)
n.446+16248T>G
n.1834T>G
c.97278A>C (p.Pro32426=)
c.71172A>C (p.Pro23724=)
c.71031A>C (p.Pro23677=)
c.97074A>C (p.Pro32358=)
c.92472A>C (p.Pro30824=)
c.92469A>C (p.Pro30823=)
c.89511A>C (p.Pro29837=)
c.71127A>C (p.Pro23709=)
c.92622A>C (p.Pro30874=)
c.92619A>C (p.Pro30873=)
c.92052A>C (p.Pro30684=)
c.89394A>C (p.Pro29798=)
c.89313A>C (p.Pro29771=)
c.71076A>C (p.Pro23692=)
c.60930A>C (p.Pro20310=)
2g.178539885G>ACA349433449TTN,TTN-AS1c.90476C>T (p.Pro30159Leu)
c.71561C>T (p.Pro23854Leu)
c.71360C>T (p.Pro23787Leu)
c.70985C>T (p.Pro23662Leu)
c.98180C>T (p.Pro32727Leu)
c.93257C>T (p.Pro31086Leu)
n.446+16249G>A
n.1835G>A
c.97277C>T (p.Pro32426Leu)
c.71171C>T (p.Pro23724Leu)
c.71030C>T (p.Pro23677Leu)
c.97073C>T (p.Pro32358Leu)
c.92471C>T (p.Pro30824Leu)
c.92468C>T (p.Pro30823Leu)
c.89510C>T (p.Pro29837Leu)
c.71126C>T (p.Pro23709Leu)
c.92621C>T (p.Pro30874Leu)
c.92618C>T (p.Pro30873Leu)
c.92051C>T (p.Pro30684Leu)
c.89393C>T (p.Pro29798Leu)
c.89312C>T (p.Pro29771Leu)
c.71075C>T (p.Pro23692Leu)
c.60929C>T (p.Pro20310Leu)
2g.178539885G>CCA349433450TTN,TTN-AS1c.90476C>G (p.Pro30159Arg)
c.71561C>G (p.Pro23854Arg)
c.71360C>G (p.Pro23787Arg)
c.70985C>G (p.Pro23662Arg)
c.98180C>G (p.Pro32727Arg)
c.93257C>G (p.Pro31086Arg)
n.446+16249G>C
n.1835G>C
c.97277C>G (p.Pro32426Arg)
c.71171C>G (p.Pro23724Arg)
c.71030C>G (p.Pro23677Arg)
c.97073C>G (p.Pro32358Arg)
c.92471C>G (p.Pro30824Arg)
c.92468C>G (p.Pro30823Arg)
c.89510C>G (p.Pro29837Arg)
c.71126C>G (p.Pro23709Arg)
c.92621C>G (p.Pro30874Arg)
c.92618C>G (p.Pro30873Arg)
c.92051C>G (p.Pro30684Arg)
c.89393C>G (p.Pro29798Arg)
c.89312C>G (p.Pro29771Arg)
c.71075C>G (p.Pro23692Arg)
c.60929C>G (p.Pro20310Arg)
2g.178539885G>TCA349433451TTN,TTN-AS1c.90476C>A (p.Pro30159Gln)
c.71561C>A (p.Pro23854Gln)
c.71360C>A (p.Pro23787Gln)
c.70985C>A (p.Pro23662Gln)
c.98180C>A (p.Pro32727Gln)
c.93257C>A (p.Pro31086Gln)
n.446+16249G>T
n.1835G>T
c.97277C>A (p.Pro32426Gln)
c.71171C>A (p.Pro23724Gln)
c.71030C>A (p.Pro23677Gln)
c.97073C>A (p.Pro32358Gln)
c.92471C>A (p.Pro30824Gln)
c.92468C>A (p.Pro30823Gln)
c.89510C>A (p.Pro29837Gln)
c.71126C>A (p.Pro23709Gln)
c.92621C>A (p.Pro30874Gln)
c.92618C>A (p.Pro30873Gln)
c.92051C>A (p.Pro30684Gln)
c.89393C>A (p.Pro29798Gln)
c.89312C>A (p.Pro29771Gln)
c.71075C>A (p.Pro23692Gln)
c.60929C>A (p.Pro20310Gln)
2g.178539886G>ACA349433453TTN,TTN-AS1c.90475C>T (p.Pro30159Ser)
c.71560C>T (p.Pro23854Ser)
c.71359C>T (p.Pro23787Ser)
c.70984C>T (p.Pro23662Ser)
c.98179C>T (p.Pro32727Ser)
c.93256C>T (p.Pro31086Ser)
n.446+16250G>A
n.1836G>A
c.97276C>T (p.Pro32426Ser)
c.71170C>T (p.Pro23724Ser)
c.71029C>T (p.Pro23677Ser)
c.97072C>T (p.Pro32358Ser)
c.92470C>T (p.Pro30824Ser)
c.92467C>T (p.Pro30823Ser)
c.89509C>T (p.Pro29837Ser)
c.71125C>T (p.Pro23709Ser)
c.92620C>T (p.Pro30874Ser)
c.92617C>T (p.Pro30873Ser)
c.92050C>T (p.Pro30684Ser)
c.89392C>T (p.Pro29798Ser)
c.89311C>T (p.Pro29771Ser)
c.71074C>T (p.Pro23692Ser)
c.60928C>T (p.Pro20310Ser)
 gnomAD v4
2g.178539886G>CCA349433455TTN,TTN-AS1c.90475C>G (p.Pro30159Ala)
c.71560C>G (p.Pro23854Ala)
c.71359C>G (p.Pro23787Ala)
c.70984C>G (p.Pro23662Ala)
c.98179C>G (p.Pro32727Ala)
c.93256C>G (p.Pro31086Ala)
n.446+16250G>C
n.1836G>C
c.97276C>G (p.Pro32426Ala)
c.71170C>G (p.Pro23724Ala)
c.71029C>G (p.Pro23677Ala)
c.97072C>G (p.Pro32358Ala)
c.92470C>G (p.Pro30824Ala)
c.92467C>G (p.Pro30823Ala)
c.89509C>G (p.Pro29837Ala)
c.71125C>G (p.Pro23709Ala)
c.92620C>G (p.Pro30874Ala)
c.92617C>G (p.Pro30873Ala)
c.92050C>G (p.Pro30684Ala)
c.89392C>G (p.Pro29798Ala)
c.89311C>G (p.Pro29771Ala)
c.71074C>G (p.Pro23692Ala)
c.60928C>G (p.Pro20310Ala)
2g.178539886G=CA1310516525TTN,TTN-AS1c.90475C= (p.Pro30159=)
c.71560C= (p.Pro23854=)
c.71359C= (p.Pro23787=)
c.70984C= (p.Pro23662=)
c.98179C= (p.Pro32727=)
c.93256C= (p.Pro31086=)
n.446+16250G=
n.1836G=
c.97276C= (p.Pro32426=)
c.71170C= (p.Pro23724=)
c.71029C= (p.Pro23677=)
c.97072C= (p.Pro32358=)
c.92470C= (p.Pro30824=)
c.92467C= (p.Pro30823=)
c.89509C= (p.Pro29837=)
c.71125C= (p.Pro23709=)
c.92620C= (p.Pro30874=)
c.92617C= (p.Pro30873=)
c.92050C= (p.Pro30684=)
c.89392C= (p.Pro29798=)
c.89311C= (p.Pro29771=)
c.71074C= (p.Pro23692=)
c.60928C= (p.Pro20310=)
2g.178539886G>TCA349433456TTN,TTN-AS1c.90475C>A (p.Pro30159Thr)
c.71560C>A (p.Pro23854Thr)
c.71359C>A (p.Pro23787Thr)
c.70984C>A (p.Pro23662Thr)
c.98179C>A (p.Pro32727Thr)
c.93256C>A (p.Pro31086Thr)
n.446+16250G>T
n.1836G>T
c.97276C>A (p.Pro32426Thr)
c.71170C>A (p.Pro23724Thr)
c.71029C>A (p.Pro23677Thr)
c.97072C>A (p.Pro32358Thr)
c.92470C>A (p.Pro30824Thr)
c.92467C>A (p.Pro30823Thr)
c.89509C>A (p.Pro29837Thr)
c.71125C>A (p.Pro23709Thr)
c.92620C>A (p.Pro30874Thr)
c.92617C>A (p.Pro30873Thr)
c.92050C>A (p.Pro30684Thr)
c.89392C>A (p.Pro29798Thr)
c.89311C>A (p.Pro29771Thr)
c.71074C>A (p.Pro23692Thr)
c.60928C>A (p.Pro20310Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178539887T>ACA430240833TTN,TTN-AS1c.90474A>T (p.Ile30158=)
c.71559A>T (p.Ile23853=)
c.71358A>T (p.Ile23786=)
c.70983A>T (p.Ile23661=)
c.98178A>T (p.Ile32726=)
c.93255A>T (p.Ile31085=)
n.446+16251T>A
n.1837T>A
c.97275A>T (p.Ile32425=)
c.71169A>T (p.Ile23723=)
c.71028A>T (p.Ile23676=)
c.97071A>T (p.Ile32357=)
c.92469A>T (p.Ile30823=)
c.92466A>T (p.Ile30822=)
c.89508A>T (p.Ile29836=)
c.71124A>T (p.Ile23708=)
c.92619A>T (p.Ile30873=)
c.92616A>T (p.Ile30872=)
c.92049A>T (p.Ile30683=)
c.89391A>T (p.Ile29797=)
c.89310A>T (p.Ile29770=)
c.71073A>T (p.Ile23691=)
c.60927A>T (p.Ile20309=)
2g.178539887T>CCA1986415TTN,TTN-AS1c.90474A>G (p.Ile30158Met)
c.71559A>G (p.Ile23853Met)
c.71358A>G (p.Ile23786Met)
c.70983A>G (p.Ile23661Met)
c.98178A>G (p.Ile32726Met)
c.93255A>G (p.Ile31085Met)
n.446+16251T>C
n.1837T>C
c.97275A>G (p.Ile32425Met)
c.71169A>G (p.Ile23723Met)
c.71028A>G (p.Ile23676Met)
c.97071A>G (p.Ile32357Met)
c.92469A>G (p.Ile30823Met)
c.92466A>G (p.Ile30822Met)
c.89508A>G (p.Ile29836Met)
c.71124A>G (p.Ile23708Met)
c.92619A>G (p.Ile30873Met)
c.92616A>G (p.Ile30872Met)
c.92049A>G (p.Ile30683Met)
c.89391A>G (p.Ile29797Met)
c.89310A>G (p.Ile29770Met)
c.71073A>G (p.Ile23691Met)
c.60927A>G (p.Ile20309Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178539887T>GCA430240830TTN,TTN-AS1c.90474A>C (p.Ile30158=)
c.71559A>C (p.Ile23853=)
c.71358A>C (p.Ile23786=)
c.70983A>C (p.Ile23661=)
c.98178A>C (p.Ile32726=)
c.93255A>C (p.Ile31085=)
n.446+16251T>G
n.1837T>G
c.97275A>C (p.Ile32425=)
c.71169A>C (p.Ile23723=)
c.71028A>C (p.Ile23676=)
c.97071A>C (p.Ile32357=)
c.92469A>C (p.Ile30823=)
c.92466A>C (p.Ile30822=)
c.89508A>C (p.Ile29836=)
c.71124A>C (p.Ile23708=)
c.92619A>C (p.Ile30873=)
c.92616A>C (p.Ile30872=)
c.92049A>C (p.Ile30683=)
c.89391A>C (p.Ile29797=)
c.89310A>C (p.Ile29770=)
c.71073A>C (p.Ile23691=)
c.60927A>C (p.Ile20309=)
2g.178539887T=CA1310516526TTN,TTN-AS1c.90474A= (p.Ile30158=)
c.71559A= (p.Ile23853=)
c.71358A= (p.Ile23786=)
c.70983A= (p.Ile23661=)
c.98178A= (p.Ile32726=)
c.93255A= (p.Ile31085=)
n.446+16251T=
n.1837T=
c.97275A= (p.Ile32425=)
c.71169A= (p.Ile23723=)
c.71028A= (p.Ile23676=)
c.97071A= (p.Ile32357=)
c.92469A= (p.Ile30823=)
c.92466A= (p.Ile30822=)
c.89508A= (p.Ile29836=)
c.71124A= (p.Ile23708=)
c.92619A= (p.Ile30873=)
c.92616A= (p.Ile30872=)
c.92049A= (p.Ile30683=)
c.89391A= (p.Ile29797=)
c.89310A= (p.Ile29770=)
c.71073A= (p.Ile23691=)
c.60927A= (p.Ile20309=)
2g.178539888A=CA1310516527TTN,TTN-AS1c.90473T= (p.Ile30158=)
c.71558T= (p.Ile23853=)
c.71357T= (p.Ile23786=)
c.70982T= (p.Ile23661=)
c.98177T= (p.Ile32726=)
c.93254T= (p.Ile31085=)
n.446+16252A=
n.1838A=
c.97274T= (p.Ile32425=)
c.71168T= (p.Ile23723=)
c.71027T= (p.Ile23676=)
c.97070T= (p.Ile32357=)
c.92468T= (p.Ile30823=)
c.92465T= (p.Ile30822=)
c.89507T= (p.Ile29836=)
c.71123T= (p.Ile23708=)
c.92618T= (p.Ile30873=)
c.92615T= (p.Ile30872=)
c.92048T= (p.Ile30683=)
c.89390T= (p.Ile29797=)
c.89309T= (p.Ile29770=)
c.71072T= (p.Ile23691=)
c.60926T= (p.Ile20309=)
2g.178539888A>CCA349433458TTN,TTN-AS1c.90473T>G (p.Ile30158Arg)
c.71558T>G (p.Ile23853Arg)
c.71357T>G (p.Ile23786Arg)
c.70982T>G (p.Ile23661Arg)
c.98177T>G (p.Ile32726Arg)
c.93254T>G (p.Ile31085Arg)
n.446+16252A>C
n.1838A>C
c.97274T>G (p.Ile32425Arg)
c.71168T>G (p.Ile23723Arg)
c.71027T>G (p.Ile23676Arg)
c.97070T>G (p.Ile32357Arg)
c.92468T>G (p.Ile30823Arg)
c.92465T>G (p.Ile30822Arg)
c.89507T>G (p.Ile29836Arg)
c.71123T>G (p.Ile23708Arg)
c.92618T>G (p.Ile30873Arg)
c.92615T>G (p.Ile30872Arg)
c.92048T>G (p.Ile30683Arg)
c.89390T>G (p.Ile29797Arg)
c.89309T>G (p.Ile29770Arg)
c.71072T>G (p.Ile23691Arg)
c.60926T>G (p.Ile20309Arg)
2g.178539888A>GCA1986416TTN,TTN-AS1c.90473T>C (p.Ile30158Thr)
c.71558T>C (p.Ile23853Thr)
c.71357T>C (p.Ile23786Thr)
c.70982T>C (p.Ile23661Thr)
c.98177T>C (p.Ile32726Thr)
c.93254T>C (p.Ile31085Thr)
n.446+16252A>G
n.1838A>G
c.97274T>C (p.Ile32425Thr)
c.71168T>C (p.Ile23723Thr)
c.71027T>C (p.Ile23676Thr)
c.97070T>C (p.Ile32357Thr)
c.92468T>C (p.Ile30823Thr)
c.92465T>C (p.Ile30822Thr)
c.89507T>C (p.Ile29836Thr)
c.71123T>C (p.Ile23708Thr)
c.92618T>C (p.Ile30873Thr)
c.92615T>C (p.Ile30872Thr)
c.92048T>C (p.Ile30683Thr)
c.89390T>C (p.Ile29797Thr)
c.89309T>C (p.Ile29770Thr)
c.71072T>C (p.Ile23691Thr)
c.60926T>C (p.Ile20309Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178539888A>TCA349433461TTN,TTN-AS1c.90473T>A (p.Ile30158Lys)
c.71558T>A (p.Ile23853Lys)
c.71357T>A (p.Ile23786Lys)
c.70982T>A (p.Ile23661Lys)
c.98177T>A (p.Ile32726Lys)
c.93254T>A (p.Ile31085Lys)
n.446+16252A>T
n.1838A>T
c.97274T>A (p.Ile32425Lys)
c.71168T>A (p.Ile23723Lys)
c.71027T>A (p.Ile23676Lys)
c.97070T>A (p.Ile32357Lys)
c.92468T>A (p.Ile30823Lys)
c.92465T>A (p.Ile30822Lys)
c.89507T>A (p.Ile29836Lys)
c.71123T>A (p.Ile23708Lys)
c.92618T>A (p.Ile30873Lys)
c.92615T>A (p.Ile30872Lys)
c.92048T>A (p.Ile30683Lys)
c.89390T>A (p.Ile29797Lys)
c.89309T>A (p.Ile29770Lys)
c.71072T>A (p.Ile23691Lys)
c.60926T>A (p.Ile20309Lys)
2g.178539889T>ACA349433464TTN,TTN-AS1c.90472A>T (p.Ile30158Leu)
c.71557A>T (p.Ile23853Leu)
c.71356A>T (p.Ile23786Leu)
c.70981A>T (p.Ile23661Leu)
c.98176A>T (p.Ile32726Leu)
c.93253A>T (p.Ile31085Leu)
n.446+16253T>A
n.1839T>A
c.97273A>T (p.Ile32425Leu)
c.71167A>T (p.Ile23723Leu)
c.71026A>T (p.Ile23676Leu)
c.97069A>T (p.Ile32357Leu)
c.92467A>T (p.Ile30823Leu)
c.92464A>T (p.Ile30822Leu)
c.89506A>T (p.Ile29836Leu)
c.71122A>T (p.Ile23708Leu)
c.92617A>T (p.Ile30873Leu)
c.92614A>T (p.Ile30872Leu)
c.92047A>T (p.Ile30683Leu)
c.89389A>T (p.Ile29797Leu)
c.89308A>T (p.Ile29770Leu)
c.71071A>T (p.Ile23691Leu)
c.60925A>T (p.Ile20309Leu)
2g.178539889T>CCA349433467TTN,TTN-AS1c.90472A>G (p.Ile30158Val)
c.71557A>G (p.Ile23853Val)
c.71356A>G (p.Ile23786Val)
c.70981A>G (p.Ile23661Val)
c.98176A>G (p.Ile32726Val)
c.93253A>G (p.Ile31085Val)
n.446+16253T>C
n.1839T>C
c.97273A>G (p.Ile32425Val)
c.71167A>G (p.Ile23723Val)
c.71026A>G (p.Ile23676Val)
c.97069A>G (p.Ile32357Val)
c.92467A>G (p.Ile30823Val)
c.92464A>G (p.Ile30822Val)
c.89506A>G (p.Ile29836Val)
c.71122A>G (p.Ile23708Val)
c.92617A>G (p.Ile30873Val)
c.92614A>G (p.Ile30872Val)
c.92047A>G (p.Ile30683Val)
c.89389A>G (p.Ile29797Val)
c.89308A>G (p.Ile29770Val)
c.71071A>G (p.Ile23691Val)
c.60925A>G (p.Ile20309Val)
 gnomAD v4
2g.178539889T>GCA349433468TTN,TTN-AS1c.90472A>C (p.Ile30158Leu)
c.71557A>C (p.Ile23853Leu)
c.71356A>C (p.Ile23786Leu)
c.70981A>C (p.Ile23661Leu)
c.98176A>C (p.Ile32726Leu)
c.93253A>C (p.Ile31085Leu)
n.446+16253T>G
n.1839T>G
c.97273A>C (p.Ile32425Leu)
c.71167A>C (p.Ile23723Leu)
c.71026A>C (p.Ile23676Leu)
c.97069A>C (p.Ile32357Leu)
c.92467A>C (p.Ile30823Leu)
c.92464A>C (p.Ile30822Leu)
c.89506A>C (p.Ile29836Leu)
c.71122A>C (p.Ile23708Leu)
c.92617A>C (p.Ile30873Leu)
c.92614A>C (p.Ile30872Leu)
c.92047A>C (p.Ile30683Leu)
c.89389A>C (p.Ile29797Leu)
c.89308A>C (p.Ile29770Leu)
c.71071A>C (p.Ile23691Leu)
c.60925A>C (p.Ile20309Leu)
2g.178539890G>ACA430240840TTN,TTN-AS1c.90471C>T (p.Thr30157=)
c.71556C>T (p.Thr23852=)
c.71355C>T (p.Thr23785=)
c.70980C>T (p.Thr23660=)
c.98175C>T (p.Thr32725=)
c.93252C>T (p.Thr31084=)
n.446+16254G>A
n.1840G>A
c.97272C>T (p.Thr32424=)
c.71166C>T (p.Thr23722=)
c.71025C>T (p.Thr23675=)
c.97068C>T (p.Thr32356=)
c.92466C>T (p.Thr30822=)
c.92463C>T (p.Thr30821=)
c.89505C>T (p.Thr29835=)
c.71121C>T (p.Thr23707=)
c.92616C>T (p.Thr30872=)
c.92613C>T (p.Thr30871=)
c.92046C>T (p.Thr30682=)
c.89388C>T (p.Thr29796=)
c.89307C>T (p.Thr29769=)
c.71070C>T (p.Thr23690=)
c.60924C>T (p.Thr20308=)
 gnomAD v4
2g.178539890G>CCA430240842TTN,TTN-AS1c.90471C>G (p.Thr30157=)
c.71556C>G (p.Thr23852=)
c.71355C>G (p.Thr23785=)
c.70980C>G (p.Thr23660=)
c.98175C>G (p.Thr32725=)
c.93252C>G (p.Thr31084=)
n.446+16254G>C
n.1840G>C
c.97272C>G (p.Thr32424=)
c.71166C>G (p.Thr23722=)
c.71025C>G (p.Thr23675=)
c.97068C>G (p.Thr32356=)
c.92466C>G (p.Thr30822=)
c.92463C>G (p.Thr30821=)
c.89505C>G (p.Thr29835=)
c.71121C>G (p.Thr23707=)
c.92616C>G (p.Thr30872=)
c.92613C>G (p.Thr30871=)
c.92046C>G (p.Thr30682=)
c.89388C>G (p.Thr29796=)
c.89307C>G (p.Thr29769=)
c.71070C>G (p.Thr23690=)
c.60924C>G (p.Thr20308=)
2g.178539890G=CA1310516528TTN,TTN-AS1c.90471C= (p.Thr30157=)
c.71556C= (p.Thr23852=)
c.71355C= (p.Thr23785=)
c.70980C= (p.Thr23660=)
c.98175C= (p.Thr32725=)
c.93252C= (p.Thr31084=)
n.446+16254G=
n.1840G=
c.97272C= (p.Thr32424=)
c.71166C= (p.Thr23722=)
c.71025C= (p.Thr23675=)
c.97068C= (p.Thr32356=)
c.92466C= (p.Thr30822=)
c.92463C= (p.Thr30821=)
c.89505C= (p.Thr29835=)
c.71121C= (p.Thr23707=)
c.92616C= (p.Thr30872=)
c.92613C= (p.Thr30871=)
c.92046C= (p.Thr30682=)
c.89388C= (p.Thr29796=)
c.89307C= (p.Thr29769=)
c.71070C= (p.Thr23690=)
c.60924C= (p.Thr20308=)

Number of alleles fetched