Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544300T>ACA349455966TTN,TTN-AS1c.88225A>T (p.Met29409Leu)
c.69310A>T (p.Met23104Leu)
c.69109A>T (p.Met23037Leu)
c.68734A>T (p.Met22912Leu)
c.95929A>T (p.Met31977Leu)
c.91006A>T (p.Met30336Leu)
n.446+20664T>A
n.2043+1939T>A
c.95026A>T (p.Met31676Leu)
c.68920A>T (p.Met22974Leu)
c.68779A>T (p.Met22927Leu)
c.94822A>T (p.Met31608Leu)
c.90220A>T (p.Met30074Leu)
c.90217A>T (p.Met30073Leu)
c.87259A>T (p.Met29087Leu)
c.68875A>T (p.Met22959Leu)
c.90370A>T (p.Met30124Leu)
c.90367A>T (p.Met30123Leu)
c.89800A>T (p.Met29934Leu)
c.87142A>T (p.Met29048Leu)
c.87061A>T (p.Met29021Leu)
c.68824A>T (p.Met22942Leu)
c.58678A>T (p.Met19560Leu)
2g.178544300T>CCA349455961TTN,TTN-AS1c.88225A>G (p.Met29409Val)
c.69310A>G (p.Met23104Val)
c.69109A>G (p.Met23037Val)
c.68734A>G (p.Met22912Val)
c.95929A>G (p.Met31977Val)
c.91006A>G (p.Met30336Val)
n.446+20664T>C
n.2043+1939T>C
c.95026A>G (p.Met31676Val)
c.68920A>G (p.Met22974Val)
c.68779A>G (p.Met22927Val)
c.94822A>G (p.Met31608Val)
c.90220A>G (p.Met30074Val)
c.90217A>G (p.Met30073Val)
c.87259A>G (p.Met29087Val)
c.68875A>G (p.Met22959Val)
c.90370A>G (p.Met30124Val)
c.90367A>G (p.Met30123Val)
c.89800A>G (p.Met29934Val)
c.87142A>G (p.Met29048Val)
c.87061A>G (p.Met29021Val)
c.68824A>G (p.Met22942Val)
c.58678A>G (p.Met19560Val)
2g.178544300T>GCA349455958TTN,TTN-AS1c.88225A>C (p.Met29409Leu)
c.69310A>C (p.Met23104Leu)
c.69109A>C (p.Met23037Leu)
c.68734A>C (p.Met22912Leu)
c.95929A>C (p.Met31977Leu)
c.91006A>C (p.Met30336Leu)
n.446+20664T>G
n.2043+1939T>G
c.95026A>C (p.Met31676Leu)
c.68920A>C (p.Met22974Leu)
c.68779A>C (p.Met22927Leu)
c.94822A>C (p.Met31608Leu)
c.90220A>C (p.Met30074Leu)
c.90217A>C (p.Met30073Leu)
c.87259A>C (p.Met29087Leu)
c.68875A>C (p.Met22959Leu)
c.90370A>C (p.Met30124Leu)
c.90367A>C (p.Met30123Leu)
c.89800A>C (p.Met29934Leu)
c.87142A>C (p.Met29048Leu)
c.87061A>C (p.Met29021Leu)
c.68824A>C (p.Met22942Leu)
c.58678A>C (p.Met19560Leu)
2g.178544301T>ACA349455970TTN,TTN-AS1c.88224A>T (p.Lys29408Asn)
c.69309A>T (p.Lys23103Asn)
c.69108A>T (p.Lys23036Asn)
c.68733A>T (p.Lys22911Asn)
c.95928A>T (p.Lys31976Asn)
c.91005A>T (p.Lys30335Asn)
n.446+20665T>A
n.2043+1940T>A
c.95025A>T (p.Lys31675Asn)
c.68919A>T (p.Lys22973Asn)
c.68778A>T (p.Lys22926Asn)
c.94821A>T (p.Lys31607Asn)
c.90219A>T (p.Lys30073Asn)
c.90216A>T (p.Lys30072Asn)
c.87258A>T (p.Lys29086Asn)
c.68874A>T (p.Lys22958Asn)
c.90369A>T (p.Lys30123Asn)
c.90366A>T (p.Lys30122Asn)
c.89799A>T (p.Lys29933Asn)
c.87141A>T (p.Lys29047Asn)
c.87060A>T (p.Lys29020Asn)
c.68823A>T (p.Lys22941Asn)
c.58677A>T (p.Lys19559Asn)
2g.178544301T>CCA430241651TTN,TTN-AS1c.88224A>G (p.Lys29408=)
c.69309A>G (p.Lys23103=)
c.69108A>G (p.Lys23036=)
c.68733A>G (p.Lys22911=)
c.95928A>G (p.Lys31976=)
c.91005A>G (p.Lys30335=)
n.446+20665T>C
n.2043+1940T>C
c.95025A>G (p.Lys31675=)
c.68919A>G (p.Lys22973=)
c.68778A>G (p.Lys22926=)
c.94821A>G (p.Lys31607=)
c.90219A>G (p.Lys30073=)
c.90216A>G (p.Lys30072=)
c.87258A>G (p.Lys29086=)
c.68874A>G (p.Lys22958=)
c.90369A>G (p.Lys30123=)
c.90366A>G (p.Lys30122=)
c.89799A>G (p.Lys29933=)
c.87141A>G (p.Lys29047=)
c.87060A>G (p.Lys29020=)
c.68823A>G (p.Lys22941=)
c.58677A>G (p.Lys19559=)
dbSNP
2g.178544301T>GCA349455971TTN,TTN-AS1c.88224A>C (p.Lys29408Asn)
c.69309A>C (p.Lys23103Asn)
c.69108A>C (p.Lys23036Asn)
c.68733A>C (p.Lys22911Asn)
c.95928A>C (p.Lys31976Asn)
c.91005A>C (p.Lys30335Asn)
n.446+20665T>G
n.2043+1940T>G
c.95025A>C (p.Lys31675Asn)
c.68919A>C (p.Lys22973Asn)
c.68778A>C (p.Lys22926Asn)
c.94821A>C (p.Lys31607Asn)
c.90219A>C (p.Lys30073Asn)
c.90216A>C (p.Lys30072Asn)
c.87258A>C (p.Lys29086Asn)
c.68874A>C (p.Lys22958Asn)
c.90369A>C (p.Lys30123Asn)
c.90366A>C (p.Lys30122Asn)
c.89799A>C (p.Lys29933Asn)
c.87141A>C (p.Lys29047Asn)
c.87060A>C (p.Lys29020Asn)
c.68823A>C (p.Lys22941Asn)
c.58677A>C (p.Lys19559Asn)
2g.178544301T=CA1310521496TTN,TTN-AS1c.88224A= (p.Lys29408=)
c.69309A= (p.Lys23103=)
c.69108A= (p.Lys23036=)
c.68733A= (p.Lys22911=)
c.95928A= (p.Lys31976=)
c.91005A= (p.Lys30335=)
n.446+20665T=
n.2043+1940T=
c.95025A= (p.Lys31675=)
c.68919A= (p.Lys22973=)
c.68778A= (p.Lys22926=)
c.94821A= (p.Lys31607=)
c.90219A= (p.Lys30073=)
c.90216A= (p.Lys30072=)
c.87258A= (p.Lys29086=)
c.68874A= (p.Lys22958=)
c.90369A= (p.Lys30123=)
c.90366A= (p.Lys30122=)
c.89799A= (p.Lys29933=)
c.87141A= (p.Lys29047=)
c.87060A= (p.Lys29020=)
c.68823A= (p.Lys22941=)
c.58677A= (p.Lys19559=)
2g.178544302T>ACA349455973TTN,TTN-AS1c.88223A>T (p.Lys29408Ile)
c.69308A>T (p.Lys23103Ile)
c.69107A>T (p.Lys23036Ile)
c.68732A>T (p.Lys22911Ile)
c.95927A>T (p.Lys31976Ile)
c.91004A>T (p.Lys30335Ile)
n.446+20666T>A
n.2043+1941T>A
c.95024A>T (p.Lys31675Ile)
c.68918A>T (p.Lys22973Ile)
c.68777A>T (p.Lys22926Ile)
c.94820A>T (p.Lys31607Ile)
c.90218A>T (p.Lys30073Ile)
c.90215A>T (p.Lys30072Ile)
c.87257A>T (p.Lys29086Ile)
c.68873A>T (p.Lys22958Ile)
c.90368A>T (p.Lys30123Ile)
c.90365A>T (p.Lys30122Ile)
c.89798A>T (p.Lys29933Ile)
c.87140A>T (p.Lys29047Ile)
c.87059A>T (p.Lys29020Ile)
c.68822A>T (p.Lys22941Ile)
c.58676A>T (p.Lys19559Ile)
2g.178544302T>CCA349455974TTN,TTN-AS1c.88223A>G (p.Lys29408Arg)
c.69308A>G (p.Lys23103Arg)
c.69107A>G (p.Lys23036Arg)
c.68732A>G (p.Lys22911Arg)
c.95927A>G (p.Lys31976Arg)
c.91004A>G (p.Lys30335Arg)
n.446+20666T>C
n.2043+1941T>C
c.95024A>G (p.Lys31675Arg)
c.68918A>G (p.Lys22973Arg)
c.68777A>G (p.Lys22926Arg)
c.94820A>G (p.Lys31607Arg)
c.90218A>G (p.Lys30073Arg)
c.90215A>G (p.Lys30072Arg)
c.87257A>G (p.Lys29086Arg)
c.68873A>G (p.Lys22958Arg)
c.90368A>G (p.Lys30123Arg)
c.90365A>G (p.Lys30122Arg)
c.89798A>G (p.Lys29933Arg)
c.87140A>G (p.Lys29047Arg)
c.87059A>G (p.Lys29020Arg)
c.68822A>G (p.Lys22941Arg)
c.58676A>G (p.Lys19559Arg)
2g.178544302T>GCA349455975TTN,TTN-AS1c.88223A>C (p.Lys29408Thr)
c.69308A>C (p.Lys23103Thr)
c.69107A>C (p.Lys23036Thr)
c.68732A>C (p.Lys22911Thr)
c.95927A>C (p.Lys31976Thr)
c.91004A>C (p.Lys30335Thr)
n.446+20666T>G
n.2043+1941T>G
c.95024A>C (p.Lys31675Thr)
c.68918A>C (p.Lys22973Thr)
c.68777A>C (p.Lys22926Thr)
c.94820A>C (p.Lys31607Thr)
c.90218A>C (p.Lys30073Thr)
c.90215A>C (p.Lys30072Thr)
c.87257A>C (p.Lys29086Thr)
c.68873A>C (p.Lys22958Thr)
c.90368A>C (p.Lys30123Thr)
c.90365A>C (p.Lys30122Thr)
c.89798A>C (p.Lys29933Thr)
c.87140A>C (p.Lys29047Thr)
c.87059A>C (p.Lys29020Thr)
c.68822A>C (p.Lys22941Thr)
c.58676A>C (p.Lys19559Thr)
2g.178544303T>ACA349455977TTN,TTN-AS1c.88222A>T (p.Lys29408Ter)
c.69307A>T (p.Lys23103Ter)
c.69106A>T (p.Lys23036Ter)
c.68731A>T (p.Lys22911Ter)
c.95926A>T (p.Lys31976Ter)
c.91003A>T (p.Lys30335Ter)
n.446+20667T>A
n.2043+1942T>A
c.95023A>T (p.Lys31675Ter)
c.68917A>T (p.Lys22973Ter)
c.68776A>T (p.Lys22926Ter)
c.94819A>T (p.Lys31607Ter)
c.90217A>T (p.Lys30073Ter)
c.90214A>T (p.Lys30072Ter)
c.87256A>T (p.Lys29086Ter)
c.68872A>T (p.Lys22958Ter)
c.90367A>T (p.Lys30123Ter)
c.90364A>T (p.Lys30122Ter)
c.89797A>T (p.Lys29933Ter)
c.87139A>T (p.Lys29047Ter)
c.87058A>T (p.Lys29020Ter)
c.68821A>T (p.Lys22941Ter)
c.58675A>T (p.Lys19559Ter)
2g.178544303T>CCA349455978TTN,TTN-AS1c.88222A>G (p.Lys29408Glu)
c.69307A>G (p.Lys23103Glu)
c.69106A>G (p.Lys23036Glu)
c.68731A>G (p.Lys22911Glu)
c.95926A>G (p.Lys31976Glu)
c.91003A>G (p.Lys30335Glu)
n.446+20667T>C
n.2043+1942T>C
c.95023A>G (p.Lys31675Glu)
c.68917A>G (p.Lys22973Glu)
c.68776A>G (p.Lys22926Glu)
c.94819A>G (p.Lys31607Glu)
c.90217A>G (p.Lys30073Glu)
c.90214A>G (p.Lys30072Glu)
c.87256A>G (p.Lys29086Glu)
c.68872A>G (p.Lys22958Glu)
c.90367A>G (p.Lys30123Glu)
c.90364A>G (p.Lys30122Glu)
c.89797A>G (p.Lys29933Glu)
c.87139A>G (p.Lys29047Glu)
c.87058A>G (p.Lys29020Glu)
c.68821A>G (p.Lys22941Glu)
c.58675A>G (p.Lys19559Glu)
2g.178544303T>GCA349455982TTN,TTN-AS1c.88222A>C (p.Lys29408Gln)
c.69307A>C (p.Lys23103Gln)
c.69106A>C (p.Lys23036Gln)
c.68731A>C (p.Lys22911Gln)
c.95926A>C (p.Lys31976Gln)
c.91003A>C (p.Lys30335Gln)
n.446+20667T>G
n.2043+1942T>G
c.95023A>C (p.Lys31675Gln)
c.68917A>C (p.Lys22973Gln)
c.68776A>C (p.Lys22926Gln)
c.94819A>C (p.Lys31607Gln)
c.90217A>C (p.Lys30073Gln)
c.90214A>C (p.Lys30072Gln)
c.87256A>C (p.Lys29086Gln)
c.68872A>C (p.Lys22958Gln)
c.90367A>C (p.Lys30123Gln)
c.90364A>C (p.Lys30122Gln)
c.89797A>C (p.Lys29933Gln)
c.87139A>C (p.Lys29047Gln)
c.87058A>C (p.Lys29020Gln)
c.68821A>C (p.Lys22941Gln)
c.58675A>C (p.Lys19559Gln)
2g.178544304A>CCA430241656TTN,TTN-AS1c.88221T>G (p.Leu29407=)
c.69306T>G (p.Leu23102=)
c.69105T>G (p.Leu23035=)
c.68730T>G (p.Leu22910=)
c.95925T>G (p.Leu31975=)
c.91002T>G (p.Leu30334=)
n.446+20668A>C
n.2043+1943A>C
c.95022T>G (p.Leu31674=)
c.68916T>G (p.Leu22972=)
c.68775T>G (p.Leu22925=)
c.94818T>G (p.Leu31606=)
c.90216T>G (p.Leu30072=)
c.90213T>G (p.Leu30071=)
c.87255T>G (p.Leu29085=)
c.68871T>G (p.Leu22957=)
c.90366T>G (p.Leu30122=)
c.90363T>G (p.Leu30121=)
c.89796T>G (p.Leu29932=)
c.87138T>G (p.Leu29046=)
c.87057T>G (p.Leu29019=)
c.68820T>G (p.Leu22940=)
c.58674T>G (p.Leu19558=)
2g.178544304A>GCA430241658TTN,TTN-AS1c.88221T>C (p.Leu29407=)
c.69306T>C (p.Leu23102=)
c.69105T>C (p.Leu23035=)
c.68730T>C (p.Leu22910=)
c.95925T>C (p.Leu31975=)
c.91002T>C (p.Leu30334=)
n.446+20668A>G
n.2043+1943A>G
c.95022T>C (p.Leu31674=)
c.68916T>C (p.Leu22972=)
c.68775T>C (p.Leu22925=)
c.94818T>C (p.Leu31606=)
c.90216T>C (p.Leu30072=)
c.90213T>C (p.Leu30071=)
c.87255T>C (p.Leu29085=)
c.68871T>C (p.Leu22957=)
c.90366T>C (p.Leu30122=)
c.90363T>C (p.Leu30121=)
c.89796T>C (p.Leu29932=)
c.87138T>C (p.Leu29046=)
c.87057T>C (p.Leu29019=)
c.68820T>C (p.Leu22940=)
c.58674T>C (p.Leu19558=)
2g.178544304A>TCA430241659TTN,TTN-AS1c.88221T>A (p.Leu29407=)
c.69306T>A (p.Leu23102=)
c.69105T>A (p.Leu23035=)
c.68730T>A (p.Leu22910=)
c.95925T>A (p.Leu31975=)
c.91002T>A (p.Leu30334=)
n.446+20668A>T
n.2043+1943A>T
c.95022T>A (p.Leu31674=)
c.68916T>A (p.Leu22972=)
c.68775T>A (p.Leu22925=)
c.94818T>A (p.Leu31606=)
c.90216T>A (p.Leu30072=)
c.90213T>A (p.Leu30071=)
c.87255T>A (p.Leu29085=)
c.68871T>A (p.Leu22957=)
c.90366T>A (p.Leu30122=)
c.90363T>A (p.Leu30121=)
c.89796T>A (p.Leu29932=)
c.87138T>A (p.Leu29046=)
c.87057T>A (p.Leu29019=)
c.68820T>A (p.Leu22940=)
c.58674T>A (p.Leu19558=)
2g.178544305A>CCA349455984TTN,TTN-AS1c.88220T>G (p.Leu29407Arg)
c.69305T>G (p.Leu23102Arg)
c.69104T>G (p.Leu23035Arg)
c.68729T>G (p.Leu22910Arg)
c.95924T>G (p.Leu31975Arg)
c.91001T>G (p.Leu30334Arg)
n.446+20669A>C
n.2043+1944A>C
c.95021T>G (p.Leu31674Arg)
c.68915T>G (p.Leu22972Arg)
c.68774T>G (p.Leu22925Arg)
c.94817T>G (p.Leu31606Arg)
c.90215T>G (p.Leu30072Arg)
c.90212T>G (p.Leu30071Arg)
c.87254T>G (p.Leu29085Arg)
c.68870T>G (p.Leu22957Arg)
c.90365T>G (p.Leu30122Arg)
c.90362T>G (p.Leu30121Arg)
c.89795T>G (p.Leu29932Arg)
c.87137T>G (p.Leu29046Arg)
c.87056T>G (p.Leu29019Arg)
c.68819T>G (p.Leu22940Arg)
c.58673T>G (p.Leu19558Arg)
2g.178544305A>GCA349455986TTN,TTN-AS1c.88220T>C (p.Leu29407Pro)
c.69305T>C (p.Leu23102Pro)
c.69104T>C (p.Leu23035Pro)
c.68729T>C (p.Leu22910Pro)
c.95924T>C (p.Leu31975Pro)
c.91001T>C (p.Leu30334Pro)
n.446+20669A>G
n.2043+1944A>G
c.95021T>C (p.Leu31674Pro)
c.68915T>C (p.Leu22972Pro)
c.68774T>C (p.Leu22925Pro)
c.94817T>C (p.Leu31606Pro)
c.90215T>C (p.Leu30072Pro)
c.90212T>C (p.Leu30071Pro)
c.87254T>C (p.Leu29085Pro)
c.68870T>C (p.Leu22957Pro)
c.90365T>C (p.Leu30122Pro)
c.90362T>C (p.Leu30121Pro)
c.89795T>C (p.Leu29932Pro)
c.87137T>C (p.Leu29046Pro)
c.87056T>C (p.Leu29019Pro)
c.68819T>C (p.Leu22940Pro)
c.58673T>C (p.Leu19558Pro)
2g.178544305A>TCA349455988TTN,TTN-AS1c.88220T>A (p.Leu29407His)
c.69305T>A (p.Leu23102His)
c.69104T>A (p.Leu23035His)
c.68729T>A (p.Leu22910His)
c.95924T>A (p.Leu31975His)
c.91001T>A (p.Leu30334His)
n.446+20669A>T
n.2043+1944A>T
c.95021T>A (p.Leu31674His)
c.68915T>A (p.Leu22972His)
c.68774T>A (p.Leu22925His)
c.94817T>A (p.Leu31606His)
c.90215T>A (p.Leu30072His)
c.90212T>A (p.Leu30071His)
c.87254T>A (p.Leu29085His)
c.68870T>A (p.Leu22957His)
c.90365T>A (p.Leu30122His)
c.90362T>A (p.Leu30121His)
c.89795T>A (p.Leu29932His)
c.87137T>A (p.Leu29046His)
c.87056T>A (p.Leu29019His)
c.68819T>A (p.Leu22940His)
c.58673T>A (p.Leu19558His)
2g.178544306G>ACA1986853TTN,TTN-AS1c.88219C>T (p.Leu29407Phe)
c.69304C>T (p.Leu23102Phe)
c.69103C>T (p.Leu23035Phe)
c.68728C>T (p.Leu22910Phe)
c.95923C>T (p.Leu31975Phe)
c.91000C>T (p.Leu30334Phe)
n.446+20670G>A
n.2043+1945G>A
c.95020C>T (p.Leu31674Phe)
c.68914C>T (p.Leu22972Phe)
c.68773C>T (p.Leu22925Phe)
c.94816C>T (p.Leu31606Phe)
c.90214C>T (p.Leu30072Phe)
c.90211C>T (p.Leu30071Phe)
c.87253C>T (p.Leu29085Phe)
c.68869C>T (p.Leu22957Phe)
c.90364C>T (p.Leu30122Phe)
c.90361C>T (p.Leu30121Phe)
c.89794C>T (p.Leu29932Phe)
c.87136C>T (p.Leu29046Phe)
c.87055C>T (p.Leu29019Phe)
c.68818C>T (p.Leu22940Phe)
c.58672C>T (p.Leu19558Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544306G>CCA349455993TTN,TTN-AS1c.88219C>G (p.Leu29407Val)
c.69304C>G (p.Leu23102Val)
c.69103C>G (p.Leu23035Val)
c.68728C>G (p.Leu22910Val)
c.95923C>G (p.Leu31975Val)
c.91000C>G (p.Leu30334Val)
n.446+20670G>C
n.2043+1945G>C
c.95020C>G (p.Leu31674Val)
c.68914C>G (p.Leu22972Val)
c.68773C>G (p.Leu22925Val)
c.94816C>G (p.Leu31606Val)
c.90214C>G (p.Leu30072Val)
c.90211C>G (p.Leu30071Val)
c.87253C>G (p.Leu29085Val)
c.68869C>G (p.Leu22957Val)
c.90364C>G (p.Leu30122Val)
c.90361C>G (p.Leu30121Val)
c.89794C>G (p.Leu29932Val)
c.87136C>G (p.Leu29046Val)
c.87055C>G (p.Leu29019Val)
c.68818C>G (p.Leu22940Val)
c.58672C>G (p.Leu19558Val)
2g.178544306G=CA1310521498TTN,TTN-AS1c.88219C= (p.Leu29407=)
c.69304C= (p.Leu23102=)
c.69103C= (p.Leu23035=)
c.68728C= (p.Leu22910=)
c.95923C= (p.Leu31975=)
c.91000C= (p.Leu30334=)
n.446+20670G=
n.2043+1945G=
c.95020C= (p.Leu31674=)
c.68914C= (p.Leu22972=)
c.68773C= (p.Leu22925=)
c.94816C= (p.Leu31606=)
c.90214C= (p.Leu30072=)
c.90211C= (p.Leu30071=)
c.87253C= (p.Leu29085=)
c.68869C= (p.Leu22957=)
c.90364C= (p.Leu30122=)
c.90361C= (p.Leu30121=)
c.89794C= (p.Leu29932=)
c.87136C= (p.Leu29046=)
c.87055C= (p.Leu29019=)
c.68818C= (p.Leu22940=)
c.58672C= (p.Leu19558=)
2g.178544306G>TCA349455996TTN,TTN-AS1c.88219C>A (p.Leu29407Ile)
c.69304C>A (p.Leu23102Ile)
c.69103C>A (p.Leu23035Ile)
c.68728C>A (p.Leu22910Ile)
c.95923C>A (p.Leu31975Ile)
c.91000C>A (p.Leu30334Ile)
n.446+20670G>T
n.2043+1945G>T
c.95020C>A (p.Leu31674Ile)
c.68914C>A (p.Leu22972Ile)
c.68773C>A (p.Leu22925Ile)
c.94816C>A (p.Leu31606Ile)
c.90214C>A (p.Leu30072Ile)
c.90211C>A (p.Leu30071Ile)
c.87253C>A (p.Leu29085Ile)
c.68869C>A (p.Leu22957Ile)
c.90364C>A (p.Leu30122Ile)
c.90361C>A (p.Leu30121Ile)
c.89794C>A (p.Leu29932Ile)
c.87136C>A (p.Leu29046Ile)
c.87055C>A (p.Leu29019Ile)
c.68818C>A (p.Leu22940Ile)
c.58672C>A (p.Leu19558Ile)
2g.178544307G>ACA430241668TTN,TTN-AS1c.88218C>T (p.Asp29406=)
c.69303C>T (p.Asp23101=)
c.69102C>T (p.Asp23034=)
c.68727C>T (p.Asp22909=)
c.95922C>T (p.Asp31974=)
c.90999C>T (p.Asp30333=)
n.446+20671G>A
n.2043+1946G>A
c.95019C>T (p.Asp31673=)
c.68913C>T (p.Asp22971=)
c.68772C>T (p.Asp22924=)
c.94815C>T (p.Asp31605=)
c.90213C>T (p.Asp30071=)
c.90210C>T (p.Asp30070=)
c.87252C>T (p.Asp29084=)
c.68868C>T (p.Asp22956=)
c.90363C>T (p.Asp30121=)
c.90360C>T (p.Asp30120=)
c.89793C>T (p.Asp29931=)
c.87135C>T (p.Asp29045=)
c.87054C>T (p.Asp29018=)
c.68817C>T (p.Asp22939=)
c.58671C>T (p.Asp19557=)
gnomAD v4
2g.178544307G>CCA349455998TTN,TTN-AS1c.88218C>G (p.Asp29406Glu)
c.69303C>G (p.Asp23101Glu)
c.69102C>G (p.Asp23034Glu)
c.68727C>G (p.Asp22909Glu)
c.95922C>G (p.Asp31974Glu)
c.90999C>G (p.Asp30333Glu)
n.446+20671G>C
n.2043+1946G>C
c.95019C>G (p.Asp31673Glu)
c.68913C>G (p.Asp22971Glu)
c.68772C>G (p.Asp22924Glu)
c.94815C>G (p.Asp31605Glu)
c.90213C>G (p.Asp30071Glu)
c.90210C>G (p.Asp30070Glu)
c.87252C>G (p.Asp29084Glu)
c.68868C>G (p.Asp22956Glu)
c.90363C>G (p.Asp30121Glu)
c.90360C>G (p.Asp30120Glu)
c.89793C>G (p.Asp29931Glu)
c.87135C>G (p.Asp29045Glu)
c.87054C>G (p.Asp29018Glu)
c.68817C>G (p.Asp22939Glu)
c.58671C>G (p.Asp19557Glu)
2g.178544307G=CA1310521500TTN,TTN-AS1c.88218C= (p.Asp29406=)
c.69303C= (p.Asp23101=)
c.69102C= (p.Asp23034=)
c.68727C= (p.Asp22909=)
c.95922C= (p.Asp31974=)
c.90999C= (p.Asp30333=)
n.446+20671G=
n.2043+1946G=
c.95019C= (p.Asp31673=)
c.68913C= (p.Asp22971=)
c.68772C= (p.Asp22924=)
c.94815C= (p.Asp31605=)
c.90213C= (p.Asp30071=)
c.90210C= (p.Asp30070=)
c.87252C= (p.Asp29084=)
c.68868C= (p.Asp22956=)
c.90363C= (p.Asp30121=)
c.90360C= (p.Asp30120=)
c.89793C= (p.Asp29931=)
c.87135C= (p.Asp29045=)
c.87054C= (p.Asp29018=)
c.68817C= (p.Asp22939=)
c.58671C= (p.Asp19557=)
2g.178544307G>TCA349456001TTN,TTN-AS1c.88218C>A (p.Asp29406Glu)
c.69303C>A (p.Asp23101Glu)
c.69102C>A (p.Asp23034Glu)
c.68727C>A (p.Asp22909Glu)
c.95922C>A (p.Asp31974Glu)
c.90999C>A (p.Asp30333Glu)
n.446+20671G>T
n.2043+1946G>T
c.95019C>A (p.Asp31673Glu)
c.68913C>A (p.Asp22971Glu)
c.68772C>A (p.Asp22924Glu)
c.94815C>A (p.Asp31605Glu)
c.90213C>A (p.Asp30071Glu)
c.90210C>A (p.Asp30070Glu)
c.87252C>A (p.Asp29084Glu)
c.68868C>A (p.Asp22956Glu)
c.90363C>A (p.Asp30121Glu)
c.90360C>A (p.Asp30120Glu)
c.89793C>A (p.Asp29931Glu)
c.87135C>A (p.Asp29045Glu)
c.87054C>A (p.Asp29018Glu)
c.68817C>A (p.Asp22939Glu)
c.58671C>A (p.Asp19557Glu)
dbSNP gnomAD v2 gnomAD v4
2g.178544308T>ACA349456003TTN,TTN-AS1c.88217A>T (p.Asp29406Val)
c.69302A>T (p.Asp23101Val)
c.69101A>T (p.Asp23034Val)
c.68726A>T (p.Asp22909Val)
c.95921A>T (p.Asp31974Val)
c.90998A>T (p.Asp30333Val)
n.446+20672T>A
n.2043+1947T>A
c.95018A>T (p.Asp31673Val)
c.68912A>T (p.Asp22971Val)
c.68771A>T (p.Asp22924Val)
c.94814A>T (p.Asp31605Val)
c.90212A>T (p.Asp30071Val)
c.90209A>T (p.Asp30070Val)
c.87251A>T (p.Asp29084Val)
c.68867A>T (p.Asp22956Val)
c.90362A>T (p.Asp30121Val)
c.90359A>T (p.Asp30120Val)
c.89792A>T (p.Asp29931Val)
c.87134A>T (p.Asp29045Val)
c.87053A>T (p.Asp29018Val)
c.68816A>T (p.Asp22939Val)
c.58670A>T (p.Asp19557Val)
2g.178544308T>CCA349456007TTN,TTN-AS1c.88217A>G (p.Asp29406Gly)
c.69302A>G (p.Asp23101Gly)
c.69101A>G (p.Asp23034Gly)
c.68726A>G (p.Asp22909Gly)
c.95921A>G (p.Asp31974Gly)
c.90998A>G (p.Asp30333Gly)
n.446+20672T>C
n.2043+1947T>C
c.95018A>G (p.Asp31673Gly)
c.68912A>G (p.Asp22971Gly)
c.68771A>G (p.Asp22924Gly)
c.94814A>G (p.Asp31605Gly)
c.90212A>G (p.Asp30071Gly)
c.90209A>G (p.Asp30070Gly)
c.87251A>G (p.Asp29084Gly)
c.68867A>G (p.Asp22956Gly)
c.90362A>G (p.Asp30121Gly)
c.90359A>G (p.Asp30120Gly)
c.89792A>G (p.Asp29931Gly)
c.87134A>G (p.Asp29045Gly)
c.87053A>G (p.Asp29018Gly)
c.68816A>G (p.Asp22939Gly)
c.58670A>G (p.Asp19557Gly)
dbSNP gnomAD v2 gnomAD v4
2g.178544308T>GCA349456014TTN,TTN-AS1c.88217A>C (p.Asp29406Ala)
c.69302A>C (p.Asp23101Ala)
c.69101A>C (p.Asp23034Ala)
c.68726A>C (p.Asp22909Ala)
c.95921A>C (p.Asp31974Ala)
c.90998A>C (p.Asp30333Ala)
n.446+20672T>G
n.2043+1947T>G
c.95018A>C (p.Asp31673Ala)
c.68912A>C (p.Asp22971Ala)
c.68771A>C (p.Asp22924Ala)
c.94814A>C (p.Asp31605Ala)
c.90212A>C (p.Asp30071Ala)
c.90209A>C (p.Asp30070Ala)
c.87251A>C (p.Asp29084Ala)
c.68867A>C (p.Asp22956Ala)
c.90362A>C (p.Asp30121Ala)
c.90359A>C (p.Asp30120Ala)
c.89792A>C (p.Asp29931Ala)
c.87134A>C (p.Asp29045Ala)
c.87053A>C (p.Asp29018Ala)
c.68816A>C (p.Asp22939Ala)
c.58670A>C (p.Asp19557Ala)
2g.178544308T=CA1310521502TTN,TTN-AS1c.88217A= (p.Asp29406=)
c.69302A= (p.Asp23101=)
c.69101A= (p.Asp23034=)
c.68726A= (p.Asp22909=)
c.95921A= (p.Asp31974=)
c.90998A= (p.Asp30333=)
n.446+20672T=
n.2043+1947T=
c.95018A= (p.Asp31673=)
c.68912A= (p.Asp22971=)
c.68771A= (p.Asp22924=)
c.94814A= (p.Asp31605=)
c.90212A= (p.Asp30071=)
c.90209A= (p.Asp30070=)
c.87251A= (p.Asp29084=)
c.68867A= (p.Asp22956=)
c.90362A= (p.Asp30121=)
c.90359A= (p.Asp30120=)
c.89792A= (p.Asp29931=)
c.87134A= (p.Asp29045=)
c.87053A= (p.Asp29018=)
c.68816A= (p.Asp22939=)
c.58670A= (p.Asp19557=)
2g.178544309C>ACA349456017TTN,TTN-AS1c.88216G>T (p.Asp29406Tyr)
c.69301G>T (p.Asp23101Tyr)
c.69100G>T (p.Asp23034Tyr)
c.68725G>T (p.Asp22909Tyr)
c.95920G>T (p.Asp31974Tyr)
c.90997G>T (p.Asp30333Tyr)
n.446+20673C>A
n.2043+1948C>A
c.95017G>T (p.Asp31673Tyr)
c.68911G>T (p.Asp22971Tyr)
c.68770G>T (p.Asp22924Tyr)
c.94813G>T (p.Asp31605Tyr)
c.90211G>T (p.Asp30071Tyr)
c.90208G>T (p.Asp30070Tyr)
c.87250G>T (p.Asp29084Tyr)
c.68866G>T (p.Asp22956Tyr)
c.90361G>T (p.Asp30121Tyr)
c.90358G>T (p.Asp30120Tyr)
c.89791G>T (p.Asp29931Tyr)
c.87133G>T (p.Asp29045Tyr)
c.87052G>T (p.Asp29018Tyr)
c.68815G>T (p.Asp22939Tyr)
c.58669G>T (p.Asp19557Tyr)
2g.178544309C>GCA349456020TTN,TTN-AS1c.88216G>C (p.Asp29406His)
c.69301G>C (p.Asp23101His)
c.69100G>C (p.Asp23034His)
c.68725G>C (p.Asp22909His)
c.95920G>C (p.Asp31974His)
c.90997G>C (p.Asp30333His)
n.446+20673C>G
n.2043+1948C>G
c.95017G>C (p.Asp31673His)
c.68911G>C (p.Asp22971His)
c.68770G>C (p.Asp22924His)
c.94813G>C (p.Asp31605His)
c.90211G>C (p.Asp30071His)
c.90208G>C (p.Asp30070His)
c.87250G>C (p.Asp29084His)
c.68866G>C (p.Asp22956His)
c.90361G>C (p.Asp30121His)
c.90358G>C (p.Asp30120His)
c.89791G>C (p.Asp29931His)
c.87133G>C (p.Asp29045His)
c.87052G>C (p.Asp29018His)
c.68815G>C (p.Asp22939His)
c.58669G>C (p.Asp19557His)
2g.178544309C>TCA349456022TTN,TTN-AS1c.88216G>A (p.Asp29406Asn)
c.69301G>A (p.Asp23101Asn)
c.69100G>A (p.Asp23034Asn)
c.68725G>A (p.Asp22909Asn)
c.95920G>A (p.Asp31974Asn)
c.90997G>A (p.Asp30333Asn)
n.446+20673C>T
n.2043+1948C>T
c.95017G>A (p.Asp31673Asn)
c.68911G>A (p.Asp22971Asn)
c.68770G>A (p.Asp22924Asn)
c.94813G>A (p.Asp31605Asn)
c.90211G>A (p.Asp30071Asn)
c.90208G>A (p.Asp30070Asn)
c.87250G>A (p.Asp29084Asn)
c.68866G>A (p.Asp22956Asn)
c.90361G>A (p.Asp30121Asn)
c.90358G>A (p.Asp30120Asn)
c.89791G>A (p.Asp29931Asn)
c.87133G>A (p.Asp29045Asn)
c.87052G>A (p.Asp29018Asn)
c.68815G>A (p.Asp22939Asn)
c.58669G>A (p.Asp19557Asn)
2g.178544310T>ACA430241678TTN,TTN-AS1c.88215A>T (p.Pro29405=)
c.69300A>T (p.Pro23100=)
c.69099A>T (p.Pro23033=)
c.68724A>T (p.Pro22908=)
c.95919A>T (p.Pro31973=)
c.90996A>T (p.Pro30332=)
n.446+20674T>A
n.2043+1949T>A
c.95016A>T (p.Pro31672=)
c.68910A>T (p.Pro22970=)
c.68769A>T (p.Pro22923=)
c.94812A>T (p.Pro31604=)
c.90210A>T (p.Pro30070=)
c.90207A>T (p.Pro30069=)
c.87249A>T (p.Pro29083=)
c.68865A>T (p.Pro22955=)
c.90360A>T (p.Pro30120=)
c.90357A>T (p.Pro30119=)
c.89790A>T (p.Pro29930=)
c.87132A>T (p.Pro29044=)
c.87051A>T (p.Pro29017=)
c.68814A>T (p.Pro22938=)
c.58668A>T (p.Pro19556=)
2g.178544310T>CCA430241682TTN,TTN-AS1c.88215A>G (p.Pro29405=)
c.69300A>G (p.Pro23100=)
c.69099A>G (p.Pro23033=)
c.68724A>G (p.Pro22908=)
c.95919A>G (p.Pro31973=)
c.90996A>G (p.Pro30332=)
n.446+20674T>C
n.2043+1949T>C
c.95016A>G (p.Pro31672=)
c.68910A>G (p.Pro22970=)
c.68769A>G (p.Pro22923=)
c.94812A>G (p.Pro31604=)
c.90210A>G (p.Pro30070=)
c.90207A>G (p.Pro30069=)
c.87249A>G (p.Pro29083=)
c.68865A>G (p.Pro22955=)
c.90360A>G (p.Pro30120=)
c.90357A>G (p.Pro30119=)
c.89790A>G (p.Pro29930=)
c.87132A>G (p.Pro29044=)
c.87051A>G (p.Pro29017=)
c.68814A>G (p.Pro22938=)
c.58668A>G (p.Pro19556=)
2g.178544310T>GCA430241681TTN,TTN-AS1c.88215A>C (p.Pro29405=)
c.69300A>C (p.Pro23100=)
c.69099A>C (p.Pro23033=)
c.68724A>C (p.Pro22908=)
c.95919A>C (p.Pro31973=)
c.90996A>C (p.Pro30332=)
n.446+20674T>G
n.2043+1949T>G
c.95016A>C (p.Pro31672=)
c.68910A>C (p.Pro22970=)
c.68769A>C (p.Pro22923=)
c.94812A>C (p.Pro31604=)
c.90210A>C (p.Pro30070=)
c.90207A>C (p.Pro30069=)
c.87249A>C (p.Pro29083=)
c.68865A>C (p.Pro22955=)
c.90360A>C (p.Pro30120=)
c.90357A>C (p.Pro30119=)
c.89790A>C (p.Pro29930=)
c.87132A>C (p.Pro29044=)
c.87051A>C (p.Pro29017=)
c.68814A>C (p.Pro22938=)
c.58668A>C (p.Pro19556=)
2g.178544311G>ACA1986854TTN,TTN-AS1c.88214C>T (p.Pro29405Leu)
c.69299C>T (p.Pro23100Leu)
c.69098C>T (p.Pro23033Leu)
c.68723C>T (p.Pro22908Leu)
c.95918C>T (p.Pro31973Leu)
c.90995C>T (p.Pro30332Leu)
n.446+20675G>A
n.2043+1950G>A
c.95015C>T (p.Pro31672Leu)
c.68909C>T (p.Pro22970Leu)
c.68768C>T (p.Pro22923Leu)
c.94811C>T (p.Pro31604Leu)
c.90209C>T (p.Pro30070Leu)
c.90206C>T (p.Pro30069Leu)
c.87248C>T (p.Pro29083Leu)
c.68864C>T (p.Pro22955Leu)
c.90359C>T (p.Pro30120Leu)
c.90356C>T (p.Pro30119Leu)
c.89789C>T (p.Pro29930Leu)
c.87131C>T (p.Pro29044Leu)
c.87050C>T (p.Pro29017Leu)
c.68813C>T (p.Pro22938Leu)
c.58667C>T (p.Pro19556Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544311G>CCA349456029TTN,TTN-AS1c.88214C>G (p.Pro29405Arg)
c.69299C>G (p.Pro23100Arg)
c.69098C>G (p.Pro23033Arg)
c.68723C>G (p.Pro22908Arg)
c.95918C>G (p.Pro31973Arg)
c.90995C>G (p.Pro30332Arg)
n.446+20675G>C
n.2043+1950G>C
c.95015C>G (p.Pro31672Arg)
c.68909C>G (p.Pro22970Arg)
c.68768C>G (p.Pro22923Arg)
c.94811C>G (p.Pro31604Arg)
c.90209C>G (p.Pro30070Arg)
c.90206C>G (p.Pro30069Arg)
c.87248C>G (p.Pro29083Arg)
c.68864C>G (p.Pro22955Arg)
c.90359C>G (p.Pro30120Arg)
c.90356C>G (p.Pro30119Arg)
c.89789C>G (p.Pro29930Arg)
c.87131C>G (p.Pro29044Arg)
c.87050C>G (p.Pro29017Arg)
c.68813C>G (p.Pro22938Arg)
c.58667C>G (p.Pro19556Arg)
2g.178544311G=CA1310521504TTN,TTN-AS1c.88214C= (p.Pro29405=)
c.69299C= (p.Pro23100=)
c.69098C= (p.Pro23033=)
c.68723C= (p.Pro22908=)
c.95918C= (p.Pro31973=)
c.90995C= (p.Pro30332=)
n.446+20675G=
n.2043+1950G=
c.95015C= (p.Pro31672=)
c.68909C= (p.Pro22970=)
c.68768C= (p.Pro22923=)
c.94811C= (p.Pro31604=)
c.90209C= (p.Pro30070=)
c.90206C= (p.Pro30069=)
c.87248C= (p.Pro29083=)
c.68864C= (p.Pro22955=)
c.90359C= (p.Pro30120=)
c.90356C= (p.Pro30119=)
c.89789C= (p.Pro29930=)
c.87131C= (p.Pro29044=)
c.87050C= (p.Pro29017=)
c.68813C= (p.Pro22938=)
c.58667C= (p.Pro19556=)
2g.178544311G>TCA349456037TTN,TTN-AS1c.88214C>A (p.Pro29405Gln)
c.69299C>A (p.Pro23100Gln)
c.69098C>A (p.Pro23033Gln)
c.68723C>A (p.Pro22908Gln)
c.95918C>A (p.Pro31973Gln)
c.90995C>A (p.Pro30332Gln)
n.446+20675G>T
n.2043+1950G>T
c.95015C>A (p.Pro31672Gln)
c.68909C>A (p.Pro22970Gln)
c.68768C>A (p.Pro22923Gln)
c.94811C>A (p.Pro31604Gln)
c.90209C>A (p.Pro30070Gln)
c.90206C>A (p.Pro30069Gln)
c.87248C>A (p.Pro29083Gln)
c.68864C>A (p.Pro22955Gln)
c.90359C>A (p.Pro30120Gln)
c.90356C>A (p.Pro30119Gln)
c.89789C>A (p.Pro29930Gln)
c.87131C>A (p.Pro29044Gln)
c.87050C>A (p.Pro29017Gln)
c.68813C>A (p.Pro22938Gln)
c.58667C>A (p.Pro19556Gln)
2g.178544312G>ACA349456042TTN,TTN-AS1c.88213C>T (p.Pro29405Ser)
c.69298C>T (p.Pro23100Ser)
c.69097C>T (p.Pro23033Ser)
c.68722C>T (p.Pro22908Ser)
c.95917C>T (p.Pro31973Ser)
c.90994C>T (p.Pro30332Ser)
n.446+20676G>A
n.2043+1951G>A
c.95014C>T (p.Pro31672Ser)
c.68908C>T (p.Pro22970Ser)
c.68767C>T (p.Pro22923Ser)
c.94810C>T (p.Pro31604Ser)
c.90208C>T (p.Pro30070Ser)
c.90205C>T (p.Pro30069Ser)
c.87247C>T (p.Pro29083Ser)
c.68863C>T (p.Pro22955Ser)
c.90358C>T (p.Pro30120Ser)
c.90355C>T (p.Pro30119Ser)
c.89788C>T (p.Pro29930Ser)
c.87130C>T (p.Pro29044Ser)
c.87049C>T (p.Pro29017Ser)
c.68812C>T (p.Pro22938Ser)
c.58666C>T (p.Pro19556Ser)
2g.178544312G>CCA349456046TTN,TTN-AS1c.88213C>G (p.Pro29405Ala)
c.69298C>G (p.Pro23100Ala)
c.69097C>G (p.Pro23033Ala)
c.68722C>G (p.Pro22908Ala)
c.95917C>G (p.Pro31973Ala)
c.90994C>G (p.Pro30332Ala)
n.446+20676G>C
n.2043+1951G>C
c.95014C>G (p.Pro31672Ala)
c.68908C>G (p.Pro22970Ala)
c.68767C>G (p.Pro22923Ala)
c.94810C>G (p.Pro31604Ala)
c.90208C>G (p.Pro30070Ala)
c.90205C>G (p.Pro30069Ala)
c.87247C>G (p.Pro29083Ala)
c.68863C>G (p.Pro22955Ala)
c.90358C>G (p.Pro30120Ala)
c.90355C>G (p.Pro30119Ala)
c.89788C>G (p.Pro29930Ala)
c.87130C>G (p.Pro29044Ala)
c.87049C>G (p.Pro29017Ala)
c.68812C>G (p.Pro22938Ala)
c.58666C>G (p.Pro19556Ala)
2g.178544312G>TCA349456049TTN,TTN-AS1c.88213C>A (p.Pro29405Thr)
c.69298C>A (p.Pro23100Thr)
c.69097C>A (p.Pro23033Thr)
c.68722C>A (p.Pro22908Thr)
c.95917C>A (p.Pro31973Thr)
c.90994C>A (p.Pro30332Thr)
n.446+20676G>T
n.2043+1951G>T
c.95014C>A (p.Pro31672Thr)
c.68908C>A (p.Pro22970Thr)
c.68767C>A (p.Pro22923Thr)
c.94810C>A (p.Pro31604Thr)
c.90208C>A (p.Pro30070Thr)
c.90205C>A (p.Pro30069Thr)
c.87247C>A (p.Pro29083Thr)
c.68863C>A (p.Pro22955Thr)
c.90358C>A (p.Pro30120Thr)
c.90355C>A (p.Pro30119Thr)
c.89788C>A (p.Pro29930Thr)
c.87130C>A (p.Pro29044Thr)
c.87049C>A (p.Pro29017Thr)
c.68812C>A (p.Pro22938Thr)
c.58666C>A (p.Pro19556Thr)
2g.178544313C>ACA430241690TTN,TTN-AS1c.88212G>T (p.Val29404=)
c.69297G>T (p.Val23099=)
c.69096G>T (p.Val23032=)
c.68721G>T (p.Val22907=)
c.95916G>T (p.Val31972=)
c.90993G>T (p.Val30331=)
n.446+20677C>A
n.2043+1952C>A
c.95013G>T (p.Val31671=)
c.68907G>T (p.Val22969=)
c.68766G>T (p.Val22922=)
c.94809G>T (p.Val31603=)
c.90207G>T (p.Val30069=)
c.90204G>T (p.Val30068=)
c.87246G>T (p.Val29082=)
c.68862G>T (p.Val22954=)
c.90357G>T (p.Val30119=)
c.90354G>T (p.Val30118=)
c.89787G>T (p.Val29929=)
c.87129G>T (p.Val29043=)
c.87048G>T (p.Val29016=)
c.68811G>T (p.Val22937=)
c.58665G>T (p.Val19555=)
2g.178544313C=CA1310521505TTN,TTN-AS1c.88212G= (p.Val29404=)
c.69297G= (p.Val23099=)
c.69096G= (p.Val23032=)
c.68721G= (p.Val22907=)
c.95916G= (p.Val31972=)
c.90993G= (p.Val30331=)
n.446+20677C=
n.2043+1952C=
c.95013G= (p.Val31671=)
c.68907G= (p.Val22969=)
c.68766G= (p.Val22922=)
c.94809G= (p.Val31603=)
c.90207G= (p.Val30069=)
c.90204G= (p.Val30068=)
c.87246G= (p.Val29082=)
c.68862G= (p.Val22954=)
c.90357G= (p.Val30119=)
c.90354G= (p.Val30118=)
c.89787G= (p.Val29929=)
c.87129G= (p.Val29043=)
c.87048G= (p.Val29016=)
c.68811G= (p.Val22937=)
c.58665G= (p.Val19555=)
2g.178544313C>GCA430241692TTN,TTN-AS1c.88212G>C (p.Val29404=)
c.69297G>C (p.Val23099=)
c.69096G>C (p.Val23032=)
c.68721G>C (p.Val22907=)
c.95916G>C (p.Val31972=)
c.90993G>C (p.Val30331=)
n.446+20677C>G
n.2043+1952C>G
c.95013G>C (p.Val31671=)
c.68907G>C (p.Val22969=)
c.68766G>C (p.Val22922=)
c.94809G>C (p.Val31603=)
c.90207G>C (p.Val30069=)
c.90204G>C (p.Val30068=)
c.87246G>C (p.Val29082=)
c.68862G>C (p.Val22954=)
c.90357G>C (p.Val30119=)
c.90354G>C (p.Val30118=)
c.89787G>C (p.Val29929=)
c.87129G>C (p.Val29043=)
c.87048G>C (p.Val29016=)
c.68811G>C (p.Val22937=)
c.58665G>C (p.Val19555=)
2g.178544313C>TCA60970576TTN,TTN-AS1c.88212G>A (p.Val29404=)
c.69297G>A (p.Val23099=)
c.69096G>A (p.Val23032=)
c.68721G>A (p.Val22907=)
c.95916G>A (p.Val31972=)
c.90993G>A (p.Val30331=)
n.446+20677C>T
n.2043+1952C>T
c.95013G>A (p.Val31671=)
c.68907G>A (p.Val22969=)
c.68766G>A (p.Val22922=)
c.94809G>A (p.Val31603=)
c.90207G>A (p.Val30069=)
c.90204G>A (p.Val30068=)
c.87246G>A (p.Val29082=)
c.68862G>A (p.Val22954=)
c.90357G>A (p.Val30119=)
c.90354G>A (p.Val30118=)
c.89787G>A (p.Val29929=)
c.87129G>A (p.Val29043=)
c.87048G>A (p.Val29016=)
c.68811G>A (p.Val22937=)
c.58665G>A (p.Val19555=)
dbSNP gnomAD v4
2g.178544314A=CA1310521506TTN,TTN-AS1c.88211T= (p.Val29404=)
c.69296T= (p.Val23099=)
c.69095T= (p.Val23032=)
c.68720T= (p.Val22907=)
c.95915T= (p.Val31972=)
c.90992T= (p.Val30331=)
n.446+20678A=
n.2043+1953A=
c.95012T= (p.Val31671=)
c.68906T= (p.Val22969=)
c.68765T= (p.Val22922=)
c.94808T= (p.Val31603=)
c.90206T= (p.Val30069=)
c.90203T= (p.Val30068=)
c.87245T= (p.Val29082=)
c.68861T= (p.Val22954=)
c.90356T= (p.Val30119=)
c.90353T= (p.Val30118=)
c.89786T= (p.Val29929=)
c.87128T= (p.Val29043=)
c.87047T= (p.Val29016=)
c.68810T= (p.Val22937=)
c.58664T= (p.Val19555=)
2g.178544314A>CCA349456067TTN,TTN-AS1c.88211T>G (p.Val29404Gly)
c.69296T>G (p.Val23099Gly)
c.69095T>G (p.Val23032Gly)
c.68720T>G (p.Val22907Gly)
c.95915T>G (p.Val31972Gly)
c.90992T>G (p.Val30331Gly)
n.446+20678A>C
n.2043+1953A>C
c.95012T>G (p.Val31671Gly)
c.68906T>G (p.Val22969Gly)
c.68765T>G (p.Val22922Gly)
c.94808T>G (p.Val31603Gly)
c.90206T>G (p.Val30069Gly)
c.90203T>G (p.Val30068Gly)
c.87245T>G (p.Val29082Gly)
c.68861T>G (p.Val22954Gly)
c.90356T>G (p.Val30119Gly)
c.90353T>G (p.Val30118Gly)
c.89786T>G (p.Val29929Gly)
c.87128T>G (p.Val29043Gly)
c.87047T>G (p.Val29016Gly)
c.68810T>G (p.Val22937Gly)
c.58664T>G (p.Val19555Gly)

Number of alleles fetched