Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569101A=CA1310530972TTN,TTN-AS1c.69327T= (p.Ala23109=)
c.50412T= (p.Ala16804=)
c.50211T= (p.Ala16737=)
c.49836T= (p.Ala16612=)
c.77031T= (p.Ala25677=)
c.72108T= (p.Ala24036=)
n.447-2199A=
n.2044-13471A=
c.76128T= (p.Ala25376=)
c.50022T= (p.Ala16674=)
c.49881T= (p.Ala16627=)
c.75924T= (p.Ala25308=)
c.71322T= (p.Ala23774=)
c.71319T= (p.Ala23773=)
c.68361T= (p.Ala22787=)
c.49977T= (p.Ala16659=)
c.71472T= (p.Ala23824=)
c.71469T= (p.Ala23823=)
c.70902T= (p.Ala23634=)
c.68244T= (p.Ala22748=)
c.68163T= (p.Ala22721=)
c.49926T= (p.Ala16642=)
c.39780T= (p.Ala13260=)
2g.178569101A>CCA430253550TTN,TTN-AS1c.69327T>G (p.Ala23109=)
c.50412T>G (p.Ala16804=)
c.50211T>G (p.Ala16737=)
c.49836T>G (p.Ala16612=)
c.77031T>G (p.Ala25677=)
c.72108T>G (p.Ala24036=)
n.447-2199A>C
n.2044-13471A>C
c.76128T>G (p.Ala25376=)
c.50022T>G (p.Ala16674=)
c.49881T>G (p.Ala16627=)
c.75924T>G (p.Ala25308=)
c.71322T>G (p.Ala23774=)
c.71319T>G (p.Ala23773=)
c.68361T>G (p.Ala22787=)
c.49977T>G (p.Ala16659=)
c.71472T>G (p.Ala23824=)
c.71469T>G (p.Ala23823=)
c.70902T>G (p.Ala23634=)
c.68244T>G (p.Ala22748=)
c.68163T>G (p.Ala22721=)
c.49926T>G (p.Ala16642=)
c.39780T>G (p.Ala13260=)
2g.178569101A>GCA430253555TTN,TTN-AS1c.69327T>C (p.Ala23109=)
c.50412T>C (p.Ala16804=)
c.50211T>C (p.Ala16737=)
c.49836T>C (p.Ala16612=)
c.77031T>C (p.Ala25677=)
c.72108T>C (p.Ala24036=)
n.447-2199A>G
n.2044-13471A>G
c.76128T>C (p.Ala25376=)
c.50022T>C (p.Ala16674=)
c.49881T>C (p.Ala16627=)
c.75924T>C (p.Ala25308=)
c.71322T>C (p.Ala23774=)
c.71319T>C (p.Ala23773=)
c.68361T>C (p.Ala22787=)
c.49977T>C (p.Ala16659=)
c.71472T>C (p.Ala23824=)
c.71469T>C (p.Ala23823=)
c.70902T>C (p.Ala23634=)
c.68244T>C (p.Ala22748=)
c.68163T>C (p.Ala22721=)
c.49926T>C (p.Ala16642=)
c.39780T>C (p.Ala13260=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178569101A>TCA430253562TTN,TTN-AS1c.69327T>A (p.Ala23109=)
c.50412T>A (p.Ala16804=)
c.50211T>A (p.Ala16737=)
c.49836T>A (p.Ala16612=)
c.77031T>A (p.Ala25677=)
c.72108T>A (p.Ala24036=)
n.447-2199A>T
n.2044-13471A>T
c.76128T>A (p.Ala25376=)
c.50022T>A (p.Ala16674=)
c.49881T>A (p.Ala16627=)
c.75924T>A (p.Ala25308=)
c.71322T>A (p.Ala23774=)
c.71319T>A (p.Ala23773=)
c.68361T>A (p.Ala22787=)
c.49977T>A (p.Ala16659=)
c.71472T>A (p.Ala23824=)
c.71469T>A (p.Ala23823=)
c.70902T>A (p.Ala23634=)
c.68244T>A (p.Ala22748=)
c.68163T>A (p.Ala22721=)
c.49926T>A (p.Ala16642=)
c.39780T>A (p.Ala13260=)
2g.178569102G>ACA349612853TTN,TTN-AS1c.69326C>T (p.Ala23109Val)
c.50411C>T (p.Ala16804Val)
c.50210C>T (p.Ala16737Val)
c.49835C>T (p.Ala16612Val)
c.77030C>T (p.Ala25677Val)
c.72107C>T (p.Ala24036Val)
n.447-2198G>A
n.2044-13470G>A
c.76127C>T (p.Ala25376Val)
c.50021C>T (p.Ala16674Val)
c.49880C>T (p.Ala16627Val)
c.75923C>T (p.Ala25308Val)
c.71321C>T (p.Ala23774Val)
c.71318C>T (p.Ala23773Val)
c.68360C>T (p.Ala22787Val)
c.49976C>T (p.Ala16659Val)
c.71471C>T (p.Ala23824Val)
c.71468C>T (p.Ala23823Val)
c.70901C>T (p.Ala23634Val)
c.68243C>T (p.Ala22748Val)
c.68162C>T (p.Ala22721Val)
c.49925C>T (p.Ala16642Val)
c.39779C>T (p.Ala13260Val)
 gnomAD v4
2g.178569102G>CCA349612854TTN,TTN-AS1c.69326C>G (p.Ala23109Gly)
c.50411C>G (p.Ala16804Gly)
c.50210C>G (p.Ala16737Gly)
c.49835C>G (p.Ala16612Gly)
c.77030C>G (p.Ala25677Gly)
c.72107C>G (p.Ala24036Gly)
n.447-2198G>C
n.2044-13470G>C
c.76127C>G (p.Ala25376Gly)
c.50021C>G (p.Ala16674Gly)
c.49880C>G (p.Ala16627Gly)
c.75923C>G (p.Ala25308Gly)
c.71321C>G (p.Ala23774Gly)
c.71318C>G (p.Ala23773Gly)
c.68360C>G (p.Ala22787Gly)
c.49976C>G (p.Ala16659Gly)
c.71471C>G (p.Ala23824Gly)
c.71468C>G (p.Ala23823Gly)
c.70901C>G (p.Ala23634Gly)
c.68243C>G (p.Ala22748Gly)
c.68162C>G (p.Ala22721Gly)
c.49925C>G (p.Ala16642Gly)
c.39779C>G (p.Ala13260Gly)
2g.178569102G>TCA349612856TTN,TTN-AS1c.69326C>A (p.Ala23109Asp)
c.50411C>A (p.Ala16804Asp)
c.50210C>A (p.Ala16737Asp)
c.49835C>A (p.Ala16612Asp)
c.77030C>A (p.Ala25677Asp)
c.72107C>A (p.Ala24036Asp)
n.447-2198G>T
n.2044-13470G>T
c.76127C>A (p.Ala25376Asp)
c.50021C>A (p.Ala16674Asp)
c.49880C>A (p.Ala16627Asp)
c.75923C>A (p.Ala25308Asp)
c.71321C>A (p.Ala23774Asp)
c.71318C>A (p.Ala23773Asp)
c.68360C>A (p.Ala22787Asp)
c.49976C>A (p.Ala16659Asp)
c.71471C>A (p.Ala23824Asp)
c.71468C>A (p.Ala23823Asp)
c.70901C>A (p.Ala23634Asp)
c.68243C>A (p.Ala22748Asp)
c.68162C>A (p.Ala22721Asp)
c.49925C>A (p.Ala16642Asp)
c.39779C>A (p.Ala13260Asp)
2g.178569103C>ACA349612859TTN,TTN-AS1c.69325G>T (p.Ala23109Ser)
c.50410G>T (p.Ala16804Ser)
c.50209G>T (p.Ala16737Ser)
c.49834G>T (p.Ala16612Ser)
c.77029G>T (p.Ala25677Ser)
c.72106G>T (p.Ala24036Ser)
n.447-2197C>A
n.2044-13469C>A
c.76126G>T (p.Ala25376Ser)
c.50020G>T (p.Ala16674Ser)
c.49879G>T (p.Ala16627Ser)
c.75922G>T (p.Ala25308Ser)
c.71320G>T (p.Ala23774Ser)
c.71317G>T (p.Ala23773Ser)
c.68359G>T (p.Ala22787Ser)
c.49975G>T (p.Ala16659Ser)
c.71470G>T (p.Ala23824Ser)
c.71467G>T (p.Ala23823Ser)
c.70900G>T (p.Ala23634Ser)
c.68242G>T (p.Ala22748Ser)
c.68161G>T (p.Ala22721Ser)
c.49924G>T (p.Ala16642Ser)
c.39778G>T (p.Ala13260Ser)
2g.178569103C>GCA349612860TTN,TTN-AS1c.69325G>C (p.Ala23109Pro)
c.50410G>C (p.Ala16804Pro)
c.50209G>C (p.Ala16737Pro)
c.49834G>C (p.Ala16612Pro)
c.77029G>C (p.Ala25677Pro)
c.72106G>C (p.Ala24036Pro)
n.447-2197C>G
n.2044-13469C>G
c.76126G>C (p.Ala25376Pro)
c.50020G>C (p.Ala16674Pro)
c.49879G>C (p.Ala16627Pro)
c.75922G>C (p.Ala25308Pro)
c.71320G>C (p.Ala23774Pro)
c.71317G>C (p.Ala23773Pro)
c.68359G>C (p.Ala22787Pro)
c.49975G>C (p.Ala16659Pro)
c.71470G>C (p.Ala23824Pro)
c.71467G>C (p.Ala23823Pro)
c.70900G>C (p.Ala23634Pro)
c.68242G>C (p.Ala22748Pro)
c.68161G>C (p.Ala22721Pro)
c.49924G>C (p.Ala16642Pro)
c.39778G>C (p.Ala13260Pro)
2g.178569103C>TCA349612862TTN,TTN-AS1c.69325G>A (p.Ala23109Thr)
c.50410G>A (p.Ala16804Thr)
c.50209G>A (p.Ala16737Thr)
c.49834G>A (p.Ala16612Thr)
c.77029G>A (p.Ala25677Thr)
c.72106G>A (p.Ala24036Thr)
n.447-2197C>T
n.2044-13469C>T
c.76126G>A (p.Ala25376Thr)
c.50020G>A (p.Ala16674Thr)
c.49879G>A (p.Ala16627Thr)
c.75922G>A (p.Ala25308Thr)
c.71320G>A (p.Ala23774Thr)
c.71317G>A (p.Ala23773Thr)
c.68359G>A (p.Ala22787Thr)
c.49975G>A (p.Ala16659Thr)
c.71470G>A (p.Ala23824Thr)
c.71467G>A (p.Ala23823Thr)
c.70900G>A (p.Ala23634Thr)
c.68242G>A (p.Ala22748Thr)
c.68161G>A (p.Ala22721Thr)
c.49924G>A (p.Ala16642Thr)
c.39778G>A (p.Ala13260Thr)
2g.178569104T>ACA430253568TTN,TTN-AS1c.69324A>T (p.Thr23108=)
c.50409A>T (p.Thr16803=)
c.50208A>T (p.Thr16736=)
c.49833A>T (p.Thr16611=)
c.77028A>T (p.Thr25676=)
c.72105A>T (p.Thr24035=)
n.447-2196T>A
n.2044-13468T>A
c.76125A>T (p.Thr25375=)
c.50019A>T (p.Thr16673=)
c.49878A>T (p.Thr16626=)
c.75921A>T (p.Thr25307=)
c.71319A>T (p.Thr23773=)
c.71316A>T (p.Thr23772=)
c.68358A>T (p.Thr22786=)
c.49974A>T (p.Thr16658=)
c.71469A>T (p.Thr23823=)
c.71466A>T (p.Thr23822=)
c.70899A>T (p.Thr23633=)
c.68241A>T (p.Thr22747=)
c.68160A>T (p.Thr22720=)
c.49923A>T (p.Thr16641=)
c.39777A>T (p.Thr13259=)
2g.178569104T>CCA430253570TTN,TTN-AS1c.69324A>G (p.Thr23108=)
c.50409A>G (p.Thr16803=)
c.50208A>G (p.Thr16736=)
c.49833A>G (p.Thr16611=)
c.77028A>G (p.Thr25676=)
c.72105A>G (p.Thr24035=)
n.447-2196T>C
n.2044-13468T>C
c.76125A>G (p.Thr25375=)
c.50019A>G (p.Thr16673=)
c.49878A>G (p.Thr16626=)
c.75921A>G (p.Thr25307=)
c.71319A>G (p.Thr23773=)
c.71316A>G (p.Thr23772=)
c.68358A>G (p.Thr22786=)
c.49974A>G (p.Thr16658=)
c.71469A>G (p.Thr23823=)
c.71466A>G (p.Thr23822=)
c.70899A>G (p.Thr23633=)
c.68241A>G (p.Thr22747=)
c.68160A>G (p.Thr22720=)
c.49923A>G (p.Thr16641=)
c.39777A>G (p.Thr13259=)
 ClinVar dbSNP
2g.178569104T>GCA430253571TTN,TTN-AS1c.69324A>C (p.Thr23108=)
c.50409A>C (p.Thr16803=)
c.50208A>C (p.Thr16736=)
c.49833A>C (p.Thr16611=)
c.77028A>C (p.Thr25676=)
c.72105A>C (p.Thr24035=)
n.447-2196T>G
n.2044-13468T>G
c.76125A>C (p.Thr25375=)
c.50019A>C (p.Thr16673=)
c.49878A>C (p.Thr16626=)
c.75921A>C (p.Thr25307=)
c.71319A>C (p.Thr23773=)
c.71316A>C (p.Thr23772=)
c.68358A>C (p.Thr22786=)
c.49974A>C (p.Thr16658=)
c.71469A>C (p.Thr23823=)
c.71466A>C (p.Thr23822=)
c.70899A>C (p.Thr23633=)
c.68241A>C (p.Thr22747=)
c.68160A>C (p.Thr22720=)
c.49923A>C (p.Thr16641=)
c.39777A>C (p.Thr13259=)
2g.178569105G>ACA349612865TTN,TTN-AS1c.69323C>T (p.Thr23108Ile)
c.50408C>T (p.Thr16803Ile)
c.50207C>T (p.Thr16736Ile)
c.49832C>T (p.Thr16611Ile)
c.77027C>T (p.Thr25676Ile)
c.72104C>T (p.Thr24035Ile)
n.447-2195G>A
n.2044-13467G>A
c.76124C>T (p.Thr25375Ile)
c.50018C>T (p.Thr16673Ile)
c.49877C>T (p.Thr16626Ile)
c.75920C>T (p.Thr25307Ile)
c.71318C>T (p.Thr23773Ile)
c.71315C>T (p.Thr23772Ile)
c.68357C>T (p.Thr22786Ile)
c.49973C>T (p.Thr16658Ile)
c.71468C>T (p.Thr23823Ile)
c.71465C>T (p.Thr23822Ile)
c.70898C>T (p.Thr23633Ile)
c.68240C>T (p.Thr22747Ile)
c.68159C>T (p.Thr22720Ile)
c.49922C>T (p.Thr16641Ile)
c.39776C>T (p.Thr13259Ile)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178569105G>CCA349612869TTN,TTN-AS1c.69323C>G (p.Thr23108Arg)
c.50408C>G (p.Thr16803Arg)
c.50207C>G (p.Thr16736Arg)
c.49832C>G (p.Thr16611Arg)
c.77027C>G (p.Thr25676Arg)
c.72104C>G (p.Thr24035Arg)
n.447-2195G>C
n.2044-13467G>C
c.76124C>G (p.Thr25375Arg)
c.50018C>G (p.Thr16673Arg)
c.49877C>G (p.Thr16626Arg)
c.75920C>G (p.Thr25307Arg)
c.71318C>G (p.Thr23773Arg)
c.71315C>G (p.Thr23772Arg)
c.68357C>G (p.Thr22786Arg)
c.49973C>G (p.Thr16658Arg)
c.71468C>G (p.Thr23823Arg)
c.71465C>G (p.Thr23822Arg)
c.70898C>G (p.Thr23633Arg)
c.68240C>G (p.Thr22747Arg)
c.68159C>G (p.Thr22720Arg)
c.49922C>G (p.Thr16641Arg)
c.39776C>G (p.Thr13259Arg)
2g.178569105G>TCA349612866TTN,TTN-AS1c.69323C>A (p.Thr23108Lys)
c.50408C>A (p.Thr16803Lys)
c.50207C>A (p.Thr16736Lys)
c.49832C>A (p.Thr16611Lys)
c.77027C>A (p.Thr25676Lys)
c.72104C>A (p.Thr24035Lys)
n.447-2195G>T
n.2044-13467G>T
c.76124C>A (p.Thr25375Lys)
c.50018C>A (p.Thr16673Lys)
c.49877C>A (p.Thr16626Lys)
c.75920C>A (p.Thr25307Lys)
c.71318C>A (p.Thr23773Lys)
c.71315C>A (p.Thr23772Lys)
c.68357C>A (p.Thr22786Lys)
c.49973C>A (p.Thr16658Lys)
c.71468C>A (p.Thr23823Lys)
c.71465C>A (p.Thr23822Lys)
c.70898C>A (p.Thr23633Lys)
c.68240C>A (p.Thr22747Lys)
c.68159C>A (p.Thr22720Lys)
c.49922C>A (p.Thr16641Lys)
c.39776C>A (p.Thr13259Lys)
2g.178569106delCA2573133029TTN,TTN-AS1c.69322del (p.Thr23108GlnfsTer30)
c.50407del (p.Thr16803GlnfsTer30)
c.50206del (p.Thr16736GlnfsTer30)
c.49831del (p.Thr16611GlnfsTer30)
c.77026del (p.Thr25676GlnfsTer30)
c.72103del (p.Thr24035GlnfsTer30)
n.447-2194del
n.2044-13466del
c.76123del (p.Thr25375GlnfsTer30)
c.50017del (p.Thr16673GlnfsTer30)
c.49876del (p.Thr16626GlnfsTer30)
c.75919del (p.Thr25307GlnfsTer30)
c.71317del (p.Thr23773GlnfsTer30)
c.71314del (p.Thr23772GlnfsTer30)
c.68356del (p.Thr22786GlnfsTer30)
c.49972del (p.Thr16658GlnfsTer30)
c.71467del (p.Thr23823GlnfsTer30)
c.71464del (p.Thr23822GlnfsTer30)
c.70897del (p.Thr23633GlnfsTer30)
c.68239del (p.Thr22747GlnfsTer30)
c.68158del (p.Thr22720GlnfsTer30)
c.49921del (p.Thr16641GlnfsTer30)
c.39775del (p.Thr13259GlnfsTer30)
 ClinVar dbSNP
2g.178569106T>ACA349612872TTN,TTN-AS1c.69322A>T (p.Thr23108Ser)
c.50407A>T (p.Thr16803Ser)
c.50206A>T (p.Thr16736Ser)
c.49831A>T (p.Thr16611Ser)
c.77026A>T (p.Thr25676Ser)
c.72103A>T (p.Thr24035Ser)
n.447-2194T>A
n.2044-13466T>A
c.76123A>T (p.Thr25375Ser)
c.50017A>T (p.Thr16673Ser)
c.49876A>T (p.Thr16626Ser)
c.75919A>T (p.Thr25307Ser)
c.71317A>T (p.Thr23773Ser)
c.71314A>T (p.Thr23772Ser)
c.68356A>T (p.Thr22786Ser)
c.49972A>T (p.Thr16658Ser)
c.71467A>T (p.Thr23823Ser)
c.71464A>T (p.Thr23822Ser)
c.70897A>T (p.Thr23633Ser)
c.68239A>T (p.Thr22747Ser)
c.68158A>T (p.Thr22720Ser)
c.49921A>T (p.Thr16641Ser)
c.39775A>T (p.Thr13259Ser)
2g.178569106T>CCA349612873TTN,TTN-AS1c.69322A>G (p.Thr23108Ala)
c.50407A>G (p.Thr16803Ala)
c.50206A>G (p.Thr16736Ala)
c.49831A>G (p.Thr16611Ala)
c.77026A>G (p.Thr25676Ala)
c.72103A>G (p.Thr24035Ala)
n.447-2194T>C
n.2044-13466T>C
c.76123A>G (p.Thr25375Ala)
c.50017A>G (p.Thr16673Ala)
c.49876A>G (p.Thr16626Ala)
c.75919A>G (p.Thr25307Ala)
c.71317A>G (p.Thr23773Ala)
c.71314A>G (p.Thr23772Ala)
c.68356A>G (p.Thr22786Ala)
c.49972A>G (p.Thr16658Ala)
c.71467A>G (p.Thr23823Ala)
c.71464A>G (p.Thr23822Ala)
c.70897A>G (p.Thr23633Ala)
c.68239A>G (p.Thr22747Ala)
c.68158A>G (p.Thr22720Ala)
c.49921A>G (p.Thr16641Ala)
c.39775A>G (p.Thr13259Ala)
2g.178569106T>GCA349612875TTN,TTN-AS1c.69322A>C (p.Thr23108Pro)
c.50407A>C (p.Thr16803Pro)
c.50206A>C (p.Thr16736Pro)
c.49831A>C (p.Thr16611Pro)
c.77026A>C (p.Thr25676Pro)
c.72103A>C (p.Thr24035Pro)
n.447-2194T>G
n.2044-13466T>G
c.76123A>C (p.Thr25375Pro)
c.50017A>C (p.Thr16673Pro)
c.49876A>C (p.Thr16626Pro)
c.75919A>C (p.Thr25307Pro)
c.71317A>C (p.Thr23773Pro)
c.71314A>C (p.Thr23772Pro)
c.68356A>C (p.Thr22786Pro)
c.49972A>C (p.Thr16658Pro)
c.71467A>C (p.Thr23823Pro)
c.71464A>C (p.Thr23822Pro)
c.70897A>C (p.Thr23633Pro)
c.68239A>C (p.Thr22747Pro)
c.68158A>C (p.Thr22720Pro)
c.49921A>C (p.Thr16641Pro)
c.39775A>C (p.Thr13259Pro)
2g.178569107G>ACA430253584TTN,TTN-AS1c.69321C>T (p.Val23107=)
c.50406C>T (p.Val16802=)
c.50205C>T (p.Val16735=)
c.49830C>T (p.Val16610=)
c.77025C>T (p.Val25675=)
c.72102C>T (p.Val24034=)
n.447-2193G>A
n.2044-13465G>A
c.76122C>T (p.Val25374=)
c.50016C>T (p.Val16672=)
c.49875C>T (p.Val16625=)
c.75918C>T (p.Val25306=)
c.71316C>T (p.Val23772=)
c.71313C>T (p.Val23771=)
c.68355C>T (p.Val22785=)
c.49971C>T (p.Val16657=)
c.71466C>T (p.Val23822=)
c.71463C>T (p.Val23821=)
c.70896C>T (p.Val23632=)
c.68238C>T (p.Val22746=)
c.68157C>T (p.Val22719=)
c.49920C>T (p.Val16640=)
c.39774C>T (p.Val13258=)
2g.178569107G>CCA430253586TTN,TTN-AS1c.69321C>G (p.Val23107=)
c.50406C>G (p.Val16802=)
c.50205C>G (p.Val16735=)
c.49830C>G (p.Val16610=)
c.77025C>G (p.Val25675=)
c.72102C>G (p.Val24034=)
n.447-2193G>C
n.2044-13465G>C
c.76122C>G (p.Val25374=)
c.50016C>G (p.Val16672=)
c.49875C>G (p.Val16625=)
c.75918C>G (p.Val25306=)
c.71316C>G (p.Val23772=)
c.71313C>G (p.Val23771=)
c.68355C>G (p.Val22785=)
c.49971C>G (p.Val16657=)
c.71466C>G (p.Val23822=)
c.71463C>G (p.Val23821=)
c.70896C>G (p.Val23632=)
c.68238C>G (p.Val22746=)
c.68157C>G (p.Val22719=)
c.49920C>G (p.Val16640=)
c.39774C>G (p.Val13258=)
2g.178569107G>TCA430253589TTN,TTN-AS1c.69321C>A (p.Val23107=)
c.50406C>A (p.Val16802=)
c.50205C>A (p.Val16735=)
c.49830C>A (p.Val16610=)
c.77025C>A (p.Val25675=)
c.72102C>A (p.Val24034=)
n.447-2193G>T
n.2044-13465G>T
c.76122C>A (p.Val25374=)
c.50016C>A (p.Val16672=)
c.49875C>A (p.Val16625=)
c.75918C>A (p.Val25306=)
c.71316C>A (p.Val23772=)
c.71313C>A (p.Val23771=)
c.68355C>A (p.Val22785=)
c.49971C>A (p.Val16657=)
c.71466C>A (p.Val23822=)
c.71463C>A (p.Val23821=)
c.70896C>A (p.Val23632=)
c.68238C>A (p.Val22746=)
c.68157C>A (p.Val22719=)
c.49920C>A (p.Val16640=)
c.39774C>A (p.Val13258=)
 ClinVar
2g.178569108A>CCA349612877TTN,TTN-AS1c.69320T>G (p.Val23107Gly)
c.50405T>G (p.Val16802Gly)
c.50204T>G (p.Val16735Gly)
c.49829T>G (p.Val16610Gly)
c.77024T>G (p.Val25675Gly)
c.72101T>G (p.Val24034Gly)
n.447-2192A>C
n.2044-13464A>C
c.76121T>G (p.Val25374Gly)
c.50015T>G (p.Val16672Gly)
c.49874T>G (p.Val16625Gly)
c.75917T>G (p.Val25306Gly)
c.71315T>G (p.Val23772Gly)
c.71312T>G (p.Val23771Gly)
c.68354T>G (p.Val22785Gly)
c.49970T>G (p.Val16657Gly)
c.71465T>G (p.Val23822Gly)
c.71462T>G (p.Val23821Gly)
c.70895T>G (p.Val23632Gly)
c.68237T>G (p.Val22746Gly)
c.68156T>G (p.Val22719Gly)
c.49919T>G (p.Val16640Gly)
c.39773T>G (p.Val13258Gly)
2g.178569108A>GCA349612879TTN,TTN-AS1c.69320T>C (p.Val23107Ala)
c.50405T>C (p.Val16802Ala)
c.50204T>C (p.Val16735Ala)
c.49829T>C (p.Val16610Ala)
c.77024T>C (p.Val25675Ala)
c.72101T>C (p.Val24034Ala)
n.447-2192A>G
n.2044-13464A>G
c.76121T>C (p.Val25374Ala)
c.50015T>C (p.Val16672Ala)
c.49874T>C (p.Val16625Ala)
c.75917T>C (p.Val25306Ala)
c.71315T>C (p.Val23772Ala)
c.71312T>C (p.Val23771Ala)
c.68354T>C (p.Val22785Ala)
c.49970T>C (p.Val16657Ala)
c.71465T>C (p.Val23822Ala)
c.71462T>C (p.Val23821Ala)
c.70895T>C (p.Val23632Ala)
c.68237T>C (p.Val22746Ala)
c.68156T>C (p.Val22719Ala)
c.49919T>C (p.Val16640Ala)
c.39773T>C (p.Val13258Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178569108A>TCA349612881TTN,TTN-AS1c.69320T>A (p.Val23107Asp)
c.50405T>A (p.Val16802Asp)
c.50204T>A (p.Val16735Asp)
c.49829T>A (p.Val16610Asp)
c.77024T>A (p.Val25675Asp)
c.72101T>A (p.Val24034Asp)
n.447-2192A>T
n.2044-13464A>T
c.76121T>A (p.Val25374Asp)
c.50015T>A (p.Val16672Asp)
c.49874T>A (p.Val16625Asp)
c.75917T>A (p.Val25306Asp)
c.71315T>A (p.Val23772Asp)
c.71312T>A (p.Val23771Asp)
c.68354T>A (p.Val22785Asp)
c.49970T>A (p.Val16657Asp)
c.71465T>A (p.Val23822Asp)
c.71462T>A (p.Val23821Asp)
c.70895T>A (p.Val23632Asp)
c.68237T>A (p.Val22746Asp)
c.68156T>A (p.Val22719Asp)
c.49919T>A (p.Val16640Asp)
c.39773T>A (p.Val13258Asp)
2g.178569109C>ACA349612882TTN,TTN-AS1c.69319G>T (p.Val23107Phe)
c.50404G>T (p.Val16802Phe)
c.50203G>T (p.Val16735Phe)
c.49828G>T (p.Val16610Phe)
c.77023G>T (p.Val25675Phe)
c.72100G>T (p.Val24034Phe)
n.447-2191C>A
n.2044-13463C>A
c.76120G>T (p.Val25374Phe)
c.50014G>T (p.Val16672Phe)
c.49873G>T (p.Val16625Phe)
c.75916G>T (p.Val25306Phe)
c.71314G>T (p.Val23772Phe)
c.71311G>T (p.Val23771Phe)
c.68353G>T (p.Val22785Phe)
c.49969G>T (p.Val16657Phe)
c.71464G>T (p.Val23822Phe)
c.71461G>T (p.Val23821Phe)
c.70894G>T (p.Val23632Phe)
c.68236G>T (p.Val22746Phe)
c.68155G>T (p.Val22719Phe)
c.49918G>T (p.Val16640Phe)
c.39772G>T (p.Val13258Phe)
2g.178569109C>GCA349612884TTN,TTN-AS1c.69319G>C (p.Val23107Leu)
c.50404G>C (p.Val16802Leu)
c.50203G>C (p.Val16735Leu)
c.49828G>C (p.Val16610Leu)
c.77023G>C (p.Val25675Leu)
c.72100G>C (p.Val24034Leu)
n.447-2191C>G
n.2044-13463C>G
c.76120G>C (p.Val25374Leu)
c.50014G>C (p.Val16672Leu)
c.49873G>C (p.Val16625Leu)
c.75916G>C (p.Val25306Leu)
c.71314G>C (p.Val23772Leu)
c.71311G>C (p.Val23771Leu)
c.68353G>C (p.Val22785Leu)
c.49969G>C (p.Val16657Leu)
c.71464G>C (p.Val23822Leu)
c.71461G>C (p.Val23821Leu)
c.70894G>C (p.Val23632Leu)
c.68236G>C (p.Val22746Leu)
c.68155G>C (p.Val22719Leu)
c.49918G>C (p.Val16640Leu)
c.39772G>C (p.Val13258Leu)
2g.178569109C>TCA349612886TTN,TTN-AS1c.69319G>A (p.Val23107Ile)
c.50404G>A (p.Val16802Ile)
c.50203G>A (p.Val16735Ile)
c.49828G>A (p.Val16610Ile)
c.77023G>A (p.Val25675Ile)
c.72100G>A (p.Val24034Ile)
n.447-2191C>T
n.2044-13463C>T
c.76120G>A (p.Val25374Ile)
c.50014G>A (p.Val16672Ile)
c.49873G>A (p.Val16625Ile)
c.75916G>A (p.Val25306Ile)
c.71314G>A (p.Val23772Ile)
c.71311G>A (p.Val23771Ile)
c.68353G>A (p.Val22785Ile)
c.49969G>A (p.Val16657Ile)
c.71464G>A (p.Val23822Ile)
c.71461G>A (p.Val23821Ile)
c.70894G>A (p.Val23632Ile)
c.68236G>A (p.Val22746Ile)
c.68155G>A (p.Val22719Ile)
c.49918G>A (p.Val16640Ile)
c.39772G>A (p.Val13258Ile)
 gnomAD v4
2g.178569110T>ACA349612888TTN,TTN-AS1c.69318A>T (p.Arg23106Ser)
c.50403A>T (p.Arg16801Ser)
c.50202A>T (p.Arg16734Ser)
c.49827A>T (p.Arg16609Ser)
c.77022A>T (p.Arg25674Ser)
c.72099A>T (p.Arg24033Ser)
n.447-2190T>A
n.2044-13462T>A
c.76119A>T (p.Arg25373Ser)
c.50013A>T (p.Arg16671Ser)
c.49872A>T (p.Arg16624Ser)
c.75915A>T (p.Arg25305Ser)
c.71313A>T (p.Arg23771Ser)
c.71310A>T (p.Arg23770Ser)
c.68352A>T (p.Arg22784Ser)
c.49968A>T (p.Arg16656Ser)
c.71463A>T (p.Arg23821Ser)
c.71460A>T (p.Arg23820Ser)
c.70893A>T (p.Arg23631Ser)
c.68235A>T (p.Arg22745Ser)
c.68154A>T (p.Arg22718Ser)
c.49917A>T (p.Arg16639Ser)
c.39771A>T (p.Arg13257Ser)
2g.178569110T>CCA430253599TTN,TTN-AS1c.69318A>G (p.Arg23106=)
c.50403A>G (p.Arg16801=)
c.50202A>G (p.Arg16734=)
c.49827A>G (p.Arg16609=)
c.77022A>G (p.Arg25674=)
c.72099A>G (p.Arg24033=)
n.447-2190T>C
n.2044-13462T>C
c.76119A>G (p.Arg25373=)
c.50013A>G (p.Arg16671=)
c.49872A>G (p.Arg16624=)
c.75915A>G (p.Arg25305=)
c.71313A>G (p.Arg23771=)
c.71310A>G (p.Arg23770=)
c.68352A>G (p.Arg22784=)
c.49968A>G (p.Arg16656=)
c.71463A>G (p.Arg23821=)
c.71460A>G (p.Arg23820=)
c.70893A>G (p.Arg23631=)
c.68235A>G (p.Arg22745=)
c.68154A>G (p.Arg22718=)
c.49917A>G (p.Arg16639=)
c.39771A>G (p.Arg13257=)
2g.178569110T>GCA349612890TTN,TTN-AS1c.69318A>C (p.Arg23106Ser)
c.50403A>C (p.Arg16801Ser)
c.50202A>C (p.Arg16734Ser)
c.49827A>C (p.Arg16609Ser)
c.77022A>C (p.Arg25674Ser)
c.72099A>C (p.Arg24033Ser)
n.447-2190T>G
n.2044-13462T>G
c.76119A>C (p.Arg25373Ser)
c.50013A>C (p.Arg16671Ser)
c.49872A>C (p.Arg16624Ser)
c.75915A>C (p.Arg25305Ser)
c.71313A>C (p.Arg23771Ser)
c.71310A>C (p.Arg23770Ser)
c.68352A>C (p.Arg22784Ser)
c.49968A>C (p.Arg16656Ser)
c.71463A>C (p.Arg23821Ser)
c.71460A>C (p.Arg23820Ser)
c.70893A>C (p.Arg23631Ser)
c.68235A>C (p.Arg22745Ser)
c.68154A>C (p.Arg22718Ser)
c.49917A>C (p.Arg16639Ser)
c.39771A>C (p.Arg13257Ser)
2g.178569111C>ACA349612896TTN,TTN-AS1c.69317G>T (p.Arg23106Ile)
c.50402G>T (p.Arg16801Ile)
c.50201G>T (p.Arg16734Ile)
c.49826G>T (p.Arg16609Ile)
c.77021G>T (p.Arg25674Ile)
c.72098G>T (p.Arg24033Ile)
n.447-2189C>A
n.2044-13461C>A
c.76118G>T (p.Arg25373Ile)
c.50012G>T (p.Arg16671Ile)
c.49871G>T (p.Arg16624Ile)
c.75914G>T (p.Arg25305Ile)
c.71312G>T (p.Arg23771Ile)
c.71309G>T (p.Arg23770Ile)
c.68351G>T (p.Arg22784Ile)
c.49967G>T (p.Arg16656Ile)
c.71462G>T (p.Arg23821Ile)
c.71459G>T (p.Arg23820Ile)
c.70892G>T (p.Arg23631Ile)
c.68234G>T (p.Arg22745Ile)
c.68153G>T (p.Arg22718Ile)
c.49916G>T (p.Arg16639Ile)
c.39770G>T (p.Arg13257Ile)
2g.178569111C>GCA349612894TTN,TTN-AS1c.69317G>C (p.Arg23106Thr)
c.50402G>C (p.Arg16801Thr)
c.50201G>C (p.Arg16734Thr)
c.49826G>C (p.Arg16609Thr)
c.77021G>C (p.Arg25674Thr)
c.72098G>C (p.Arg24033Thr)
n.447-2189C>G
n.2044-13461C>G
c.76118G>C (p.Arg25373Thr)
c.50012G>C (p.Arg16671Thr)
c.49871G>C (p.Arg16624Thr)
c.75914G>C (p.Arg25305Thr)
c.71312G>C (p.Arg23771Thr)
c.71309G>C (p.Arg23770Thr)
c.68351G>C (p.Arg22784Thr)
c.49967G>C (p.Arg16656Thr)
c.71462G>C (p.Arg23821Thr)
c.71459G>C (p.Arg23820Thr)
c.70892G>C (p.Arg23631Thr)
c.68234G>C (p.Arg22745Thr)
c.68153G>C (p.Arg22718Thr)
c.49916G>C (p.Arg16639Thr)
c.39770G>C (p.Arg13257Thr)
2g.178569111C>TCA349612892TTN,TTN-AS1c.69317G>A (p.Arg23106Lys)
c.50402G>A (p.Arg16801Lys)
c.50201G>A (p.Arg16734Lys)
c.49826G>A (p.Arg16609Lys)
c.77021G>A (p.Arg25674Lys)
c.72098G>A (p.Arg24033Lys)
n.447-2189C>T
n.2044-13461C>T
c.76118G>A (p.Arg25373Lys)
c.50012G>A (p.Arg16671Lys)
c.49871G>A (p.Arg16624Lys)
c.75914G>A (p.Arg25305Lys)
c.71312G>A (p.Arg23771Lys)
c.71309G>A (p.Arg23770Lys)
c.68351G>A (p.Arg22784Lys)
c.49967G>A (p.Arg16656Lys)
c.71462G>A (p.Arg23821Lys)
c.71459G>A (p.Arg23820Lys)
c.70892G>A (p.Arg23631Lys)
c.68234G>A (p.Arg22745Lys)
c.68153G>A (p.Arg22718Lys)
c.49916G>A (p.Arg16639Lys)
c.39770G>A (p.Arg13257Lys)
2g.178569112T>ACA349612898TTN,TTN-AS1c.69316A>T (p.Arg23106Ter)
c.50401A>T (p.Arg16801Ter)
c.50200A>T (p.Arg16734Ter)
c.49825A>T (p.Arg16609Ter)
c.77020A>T (p.Arg25674Ter)
c.72097A>T (p.Arg24033Ter)
n.447-2188T>A
n.2044-13460T>A
c.76117A>T (p.Arg25373Ter)
c.50011A>T (p.Arg16671Ter)
c.49870A>T (p.Arg16624Ter)
c.75913A>T (p.Arg25305Ter)
c.71311A>T (p.Arg23771Ter)
c.71308A>T (p.Arg23770Ter)
c.68350A>T (p.Arg22784Ter)
c.49966A>T (p.Arg16656Ter)
c.71461A>T (p.Arg23821Ter)
c.71458A>T (p.Arg23820Ter)
c.70891A>T (p.Arg23631Ter)
c.68233A>T (p.Arg22745Ter)
c.68152A>T (p.Arg22718Ter)
c.49915A>T (p.Arg16639Ter)
c.39769A>T (p.Arg13257Ter)
2g.178569112T>CCA349612900TTN,TTN-AS1c.69316A>G (p.Arg23106Gly)
c.50401A>G (p.Arg16801Gly)
c.50200A>G (p.Arg16734Gly)
c.49825A>G (p.Arg16609Gly)
c.77020A>G (p.Arg25674Gly)
c.72097A>G (p.Arg24033Gly)
n.447-2188T>C
n.2044-13460T>C
c.76117A>G (p.Arg25373Gly)
c.50011A>G (p.Arg16671Gly)
c.49870A>G (p.Arg16624Gly)
c.75913A>G (p.Arg25305Gly)
c.71311A>G (p.Arg23771Gly)
c.71308A>G (p.Arg23770Gly)
c.68350A>G (p.Arg22784Gly)
c.49966A>G (p.Arg16656Gly)
c.71461A>G (p.Arg23821Gly)
c.71458A>G (p.Arg23820Gly)
c.70891A>G (p.Arg23631Gly)
c.68233A>G (p.Arg22745Gly)
c.68152A>G (p.Arg22718Gly)
c.49915A>G (p.Arg16639Gly)
c.39769A>G (p.Arg13257Gly)
 dbSNP
2g.178569112T>GCA430253604TTN,TTN-AS1c.69316A>C (p.Arg23106=)
c.50401A>C (p.Arg16801=)
c.50200A>C (p.Arg16734=)
c.49825A>C (p.Arg16609=)
c.77020A>C (p.Arg25674=)
c.72097A>C (p.Arg24033=)
n.447-2188T>G
n.2044-13460T>G
c.76117A>C (p.Arg25373=)
c.50011A>C (p.Arg16671=)
c.49870A>C (p.Arg16624=)
c.75913A>C (p.Arg25305=)
c.71311A>C (p.Arg23771=)
c.71308A>C (p.Arg23770=)
c.68350A>C (p.Arg22784=)
c.49966A>C (p.Arg16656=)
c.71461A>C (p.Arg23821=)
c.71458A>C (p.Arg23820=)
c.70891A>C (p.Arg23631=)
c.68233A>C (p.Arg22745=)
c.68152A>C (p.Arg22718=)
c.49915A>C (p.Arg16639=)
c.39769A>C (p.Arg13257=)
2g.178569112T=CA1310530974TTN,TTN-AS1c.69316A= (p.Arg23106=)
c.50401A= (p.Arg16801=)
c.50200A= (p.Arg16734=)
c.49825A= (p.Arg16609=)
c.77020A= (p.Arg25674=)
c.72097A= (p.Arg24033=)
n.447-2188T=
n.2044-13460T=
c.76117A= (p.Arg25373=)
c.50011A= (p.Arg16671=)
c.49870A= (p.Arg16624=)
c.75913A= (p.Arg25305=)
c.71311A= (p.Arg23771=)
c.71308A= (p.Arg23770=)
c.68350A= (p.Arg22784=)
c.49966A= (p.Arg16656=)
c.71461A= (p.Arg23821=)
c.71458A= (p.Arg23820=)
c.70891A= (p.Arg23631=)
c.68233A= (p.Arg22745=)
c.68152A= (p.Arg22718=)
c.49915A= (p.Arg16639=)
c.39769A= (p.Arg13257=)
2g.178569113A>CCA349612902TTN,TTN-AS1c.69315T>G (p.Phe23105Leu)
c.50400T>G (p.Phe16800Leu)
c.50199T>G (p.Phe16733Leu)
c.49824T>G (p.Phe16608Leu)
c.77019T>G (p.Phe25673Leu)
c.72096T>G (p.Phe24032Leu)
n.447-2187A>C
n.2044-13459A>C
c.76116T>G (p.Phe25372Leu)
c.50010T>G (p.Phe16670Leu)
c.49869T>G (p.Phe16623Leu)
c.75912T>G (p.Phe25304Leu)
c.71310T>G (p.Phe23770Leu)
c.71307T>G (p.Phe23769Leu)
c.68349T>G (p.Phe22783Leu)
c.49965T>G (p.Phe16655Leu)
c.71460T>G (p.Phe23820Leu)
c.71457T>G (p.Phe23819Leu)
c.70890T>G (p.Phe23630Leu)
c.68232T>G (p.Phe22744Leu)
c.68151T>G (p.Phe22717Leu)
c.49914T>G (p.Phe16638Leu)
c.39768T>G (p.Phe13256Leu)
2g.178569113A>GCA430253606TTN,TTN-AS1c.69315T>C (p.Phe23105=)
c.50400T>C (p.Phe16800=)
c.50199T>C (p.Phe16733=)
c.49824T>C (p.Phe16608=)
c.77019T>C (p.Phe25673=)
c.72096T>C (p.Phe24032=)
n.447-2187A>G
n.2044-13459A>G
c.76116T>C (p.Phe25372=)
c.50010T>C (p.Phe16670=)
c.49869T>C (p.Phe16623=)
c.75912T>C (p.Phe25304=)
c.71310T>C (p.Phe23770=)
c.71307T>C (p.Phe23769=)
c.68349T>C (p.Phe22783=)
c.49965T>C (p.Phe16655=)
c.71460T>C (p.Phe23820=)
c.71457T>C (p.Phe23819=)
c.70890T>C (p.Phe23630=)
c.68232T>C (p.Phe22744=)
c.68151T>C (p.Phe22717=)
c.49914T>C (p.Phe16638=)
c.39768T>C (p.Phe13256=)
 ClinVar
2g.178569113A>TCA349612904TTN,TTN-AS1c.69315T>A (p.Phe23105Leu)
c.50400T>A (p.Phe16800Leu)
c.50199T>A (p.Phe16733Leu)
c.49824T>A (p.Phe16608Leu)
c.77019T>A (p.Phe25673Leu)
c.72096T>A (p.Phe24032Leu)
n.447-2187A>T
n.2044-13459A>T
c.76116T>A (p.Phe25372Leu)
c.50010T>A (p.Phe16670Leu)
c.49869T>A (p.Phe16623Leu)
c.75912T>A (p.Phe25304Leu)
c.71310T>A (p.Phe23770Leu)
c.71307T>A (p.Phe23769Leu)
c.68349T>A (p.Phe22783Leu)
c.49965T>A (p.Phe16655Leu)
c.71460T>A (p.Phe23820Leu)
c.71457T>A (p.Phe23819Leu)
c.70890T>A (p.Phe23630Leu)
c.68232T>A (p.Phe22744Leu)
c.68151T>A (p.Phe22717Leu)
c.49914T>A (p.Phe16638Leu)
c.39768T>A (p.Phe13256Leu)
2g.178569114A>CCA349612906TTN,TTN-AS1c.69314T>G (p.Phe23105Cys)
c.50399T>G (p.Phe16800Cys)
c.50198T>G (p.Phe16733Cys)
c.49823T>G (p.Phe16608Cys)
c.77018T>G (p.Phe25673Cys)
c.72095T>G (p.Phe24032Cys)
n.447-2186A>C
n.2044-13458A>C
c.76115T>G (p.Phe25372Cys)
c.50009T>G (p.Phe16670Cys)
c.49868T>G (p.Phe16623Cys)
c.75911T>G (p.Phe25304Cys)
c.71309T>G (p.Phe23770Cys)
c.71306T>G (p.Phe23769Cys)
c.68348T>G (p.Phe22783Cys)
c.49964T>G (p.Phe16655Cys)
c.71459T>G (p.Phe23820Cys)
c.71456T>G (p.Phe23819Cys)
c.70889T>G (p.Phe23630Cys)
c.68231T>G (p.Phe22744Cys)
c.68150T>G (p.Phe22717Cys)
c.49913T>G (p.Phe16638Cys)
c.39767T>G (p.Phe13256Cys)
2g.178569114A>GCA349612908TTN,TTN-AS1c.69314T>C (p.Phe23105Ser)
c.50399T>C (p.Phe16800Ser)
c.50198T>C (p.Phe16733Ser)
c.49823T>C (p.Phe16608Ser)
c.77018T>C (p.Phe25673Ser)
c.72095T>C (p.Phe24032Ser)
n.447-2186A>G
n.2044-13458A>G
c.76115T>C (p.Phe25372Ser)
c.50009T>C (p.Phe16670Ser)
c.49868T>C (p.Phe16623Ser)
c.75911T>C (p.Phe25304Ser)
c.71309T>C (p.Phe23770Ser)
c.71306T>C (p.Phe23769Ser)
c.68348T>C (p.Phe22783Ser)
c.49964T>C (p.Phe16655Ser)
c.71459T>C (p.Phe23820Ser)
c.71456T>C (p.Phe23819Ser)
c.70889T>C (p.Phe23630Ser)
c.68231T>C (p.Phe22744Ser)
c.68150T>C (p.Phe22717Ser)
c.49913T>C (p.Phe16638Ser)
c.39767T>C (p.Phe13256Ser)
2g.178569114A>TCA349612910TTN,TTN-AS1c.69314T>A (p.Phe23105Tyr)
c.50399T>A (p.Phe16800Tyr)
c.50198T>A (p.Phe16733Tyr)
c.49823T>A (p.Phe16608Tyr)
c.77018T>A (p.Phe25673Tyr)
c.72095T>A (p.Phe24032Tyr)
n.447-2186A>T
n.2044-13458A>T
c.76115T>A (p.Phe25372Tyr)
c.50009T>A (p.Phe16670Tyr)
c.49868T>A (p.Phe16623Tyr)
c.75911T>A (p.Phe25304Tyr)
c.71309T>A (p.Phe23770Tyr)
c.71306T>A (p.Phe23769Tyr)
c.68348T>A (p.Phe22783Tyr)
c.49964T>A (p.Phe16655Tyr)
c.71459T>A (p.Phe23820Tyr)
c.71456T>A (p.Phe23819Tyr)
c.70889T>A (p.Phe23630Tyr)
c.68231T>A (p.Phe22744Tyr)
c.68150T>A (p.Phe22717Tyr)
c.49913T>A (p.Phe16638Tyr)
c.39767T>A (p.Phe13256Tyr)
2g.178569115A>CCA349612913TTN,TTN-AS1c.69313T>G (p.Phe23105Val)
c.50398T>G (p.Phe16800Val)
c.50197T>G (p.Phe16733Val)
c.49822T>G (p.Phe16608Val)
c.77017T>G (p.Phe25673Val)
c.72094T>G (p.Phe24032Val)
n.447-2185A>C
n.2044-13457A>C
c.76114T>G (p.Phe25372Val)
c.50008T>G (p.Phe16670Val)
c.49867T>G (p.Phe16623Val)
c.75910T>G (p.Phe25304Val)
c.71308T>G (p.Phe23770Val)
c.71305T>G (p.Phe23769Val)
c.68347T>G (p.Phe22783Val)
c.49963T>G (p.Phe16655Val)
c.71458T>G (p.Phe23820Val)
c.71455T>G (p.Phe23819Val)
c.70888T>G (p.Phe23630Val)
c.68230T>G (p.Phe22744Val)
c.68149T>G (p.Phe22717Val)
c.49912T>G (p.Phe16638Val)
c.39766T>G (p.Phe13256Val)
2g.178569115A>GCA349612914TTN,TTN-AS1c.69313T>C (p.Phe23105Leu)
c.50398T>C (p.Phe16800Leu)
c.50197T>C (p.Phe16733Leu)
c.49822T>C (p.Phe16608Leu)
c.77017T>C (p.Phe25673Leu)
c.72094T>C (p.Phe24032Leu)
n.447-2185A>G
n.2044-13457A>G
c.76114T>C (p.Phe25372Leu)
c.50008T>C (p.Phe16670Leu)
c.49867T>C (p.Phe16623Leu)
c.75910T>C (p.Phe25304Leu)
c.71308T>C (p.Phe23770Leu)
c.71305T>C (p.Phe23769Leu)
c.68347T>C (p.Phe22783Leu)
c.49963T>C (p.Phe16655Leu)
c.71458T>C (p.Phe23820Leu)
c.71455T>C (p.Phe23819Leu)
c.70888T>C (p.Phe23630Leu)
c.68230T>C (p.Phe22744Leu)
c.68149T>C (p.Phe22717Leu)
c.49912T>C (p.Phe16638Leu)
c.39766T>C (p.Phe13256Leu)
2g.178569115A>TCA349612917TTN,TTN-AS1c.69313T>A (p.Phe23105Ile)
c.50398T>A (p.Phe16800Ile)
c.50197T>A (p.Phe16733Ile)
c.49822T>A (p.Phe16608Ile)
c.77017T>A (p.Phe25673Ile)
c.72094T>A (p.Phe24032Ile)
n.447-2185A>T
n.2044-13457A>T
c.76114T>A (p.Phe25372Ile)
c.50008T>A (p.Phe16670Ile)
c.49867T>A (p.Phe16623Ile)
c.75910T>A (p.Phe25304Ile)
c.71308T>A (p.Phe23770Ile)
c.71305T>A (p.Phe23769Ile)
c.68347T>A (p.Phe22783Ile)
c.49963T>A (p.Phe16655Ile)
c.71458T>A (p.Phe23820Ile)
c.71455T>A (p.Phe23819Ile)
c.70888T>A (p.Phe23630Ile)
c.68230T>A (p.Phe22744Ile)
c.68149T>A (p.Phe22717Ile)
c.49912T>A (p.Phe16638Ile)
c.39766T>A (p.Phe13256Ile)
2g.178569116G>ACA430253611TTN,TTN-AS1c.69312C>T (p.Tyr23104=)
c.50397C>T (p.Tyr16799=)
c.50196C>T (p.Tyr16732=)
c.49821C>T (p.Tyr16607=)
c.77016C>T (p.Tyr25672=)
c.72093C>T (p.Tyr24031=)
n.447-2184G>A
n.2044-13456G>A
c.76113C>T (p.Tyr25371=)
c.50007C>T (p.Tyr16669=)
c.49866C>T (p.Tyr16622=)
c.75909C>T (p.Tyr25303=)
c.71307C>T (p.Tyr23769=)
c.71304C>T (p.Tyr23768=)
c.68346C>T (p.Tyr22782=)
c.49962C>T (p.Tyr16654=)
c.71457C>T (p.Tyr23819=)
c.71454C>T (p.Tyr23818=)
c.70887C>T (p.Tyr23629=)
c.68229C>T (p.Tyr22743=)
c.68148C>T (p.Tyr22716=)
c.49911C>T (p.Tyr16637=)
c.39765C>T (p.Tyr13255=)
2g.178569116G>CCA349612920TTN,TTN-AS1c.69312C>G (p.Tyr23104Ter)
c.50397C>G (p.Tyr16799Ter)
c.50196C>G (p.Tyr16732Ter)
c.49821C>G (p.Tyr16607Ter)
c.77016C>G (p.Tyr25672Ter)
c.72093C>G (p.Tyr24031Ter)
n.447-2184G>C
n.2044-13456G>C
c.76113C>G (p.Tyr25371Ter)
c.50007C>G (p.Tyr16669Ter)
c.49866C>G (p.Tyr16622Ter)
c.75909C>G (p.Tyr25303Ter)
c.71307C>G (p.Tyr23769Ter)
c.71304C>G (p.Tyr23768Ter)
c.68346C>G (p.Tyr22782Ter)
c.49962C>G (p.Tyr16654Ter)
c.71457C>G (p.Tyr23819Ter)
c.71454C>G (p.Tyr23818Ter)
c.70887C>G (p.Tyr23629Ter)
c.68229C>G (p.Tyr22743Ter)
c.68148C>G (p.Tyr22716Ter)
c.49911C>G (p.Tyr16637Ter)
c.39765C>G (p.Tyr13255Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched