Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178544301T>A | CA349455970 | TTN,TTN-AS1 | c.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) | |
2 | g.178544301T>C | CA430241651 | TTN,TTN-AS1 | c.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=) | ClinVar dbSNP |
2 | g.178544301T>G | CA349455971 | TTN,TTN-AS1 | c.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) | |
2 | g.178544301T= | CA1310521496 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544302T>A | CA349455973 | TTN,TTN-AS1 | c.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) | |
2 | g.178544302T>C | CA349455974 | TTN,TTN-AS1 | c.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) | |
2 | g.178544302T>G | CA349455975 | TTN,TTN-AS1 | c.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) | |
2 | g.178544303T>A | CA349455977 | TTN,TTN-AS1 | c.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) | |
2 | g.178544303T>C | CA349455978 | TTN,TTN-AS1 | c.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) | |
2 | g.178544303T>G | CA349455982 | TTN,TTN-AS1 | c.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) | |
2 | g.178544304A>C | CA430241656 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544304A>G | CA430241658 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544304A>T | CA430241659 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544305A>C | CA349455984 | TTN,TTN-AS1 | c.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) | |
2 | g.178544305A>G | CA349455986 | TTN,TTN-AS1 | c.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) | |
2 | g.178544305A>T | CA349455988 | TTN,TTN-AS1 | c.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) | |
2 | g.178544306G>A | CA1986853 | TTN,TTN-AS1 | c.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 |
2 | g.178544306G>C | CA349455993 | TTN,TTN-AS1 | c.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) | |
2 | g.178544306G= | CA1310521498 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544306G>T | CA349455996 | TTN,TTN-AS1 | c.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) | |
2 | g.178544307G>A | CA430241668 | TTN,TTN-AS1 | c.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 |
2 | g.178544307G>C | CA349455998 | TTN,TTN-AS1 | c.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) | |
2 | g.178544307G= | CA1310521500 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544307G>T | CA349456001 | TTN,TTN-AS1 | c.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 |
2 | g.178544308T>A | CA349456003 | TTN,TTN-AS1 | c.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) | |
2 | g.178544308T>C | CA349456007 | TTN,TTN-AS1 | c.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 |
2 | g.178544308T>G | CA349456014 | TTN,TTN-AS1 | c.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) | |
2 | g.178544308T= | CA1310521502 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544309C>A | CA349456017 | TTN,TTN-AS1 | c.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) | |
2 | g.178544309C>G | CA349456020 | TTN,TTN-AS1 | c.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) | |
2 | g.178544309C>T | CA349456022 | TTN,TTN-AS1 | c.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) | |
2 | g.178544310T>A | CA430241678 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544310T>C | CA430241682 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544310T>G | CA430241681 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544311G>A | CA1986854 | TTN,TTN-AS1 | c.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 |
2 | g.178544311G>C | CA349456029 | TTN,TTN-AS1 | c.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) | |
2 | g.178544311G= | CA1310521504 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544311G>T | CA349456037 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>A | CA349456042 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>C | CA349456046 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>T | CA349456049 | TTN,TTN-AS1 | c.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) | |
2 | g.178544313C>A | CA430241690 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C= | CA1310521505 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C>G | CA430241692 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C>T | CA60970576 | TTN,TTN-AS1 | c.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 |
2 | g.178544314A= | CA1310521506 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544314A>C | CA349456067 | TTN,TTN-AS1 | c.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) | |
2 | g.178544314A>G | CA349456063 | TTN,TTN-AS1 | c.88211T>C (p.Val29404Ala) c.69296T>C (p.Val23099Ala) c.69095T>C (p.Val23032Ala) c.68720T>C (p.Val22907Ala) c.95915T>C (p.Val31972Ala) c.90992T>C (p.Val30331Ala) n.446+20678A>G n.2043+1953A>G c.95012T>C (p.Val31671Ala) c.68906T>C (p.Val22969Ala) c.68765T>C (p.Val22922Ala) c.94808T>C (p.Val31603Ala) c.90206T>C (p.Val30069Ala) c.90203T>C (p.Val30068Ala) c.87245T>C (p.Val29082Ala) c.68861T>C (p.Val22954Ala) c.90356T>C (p.Val30119Ala) c.90353T>C (p.Val30118Ala) c.89786T>C (p.Val29929Ala) c.87128T>C (p.Val29043Ala) c.87047T>C (p.Val29016Ala) c.68810T>C (p.Val22937Ala) c.58664T>C (p.Val19555Ala) | dbSNP |
2 | g.178544314A>T | CA349456072 | TTN,TTN-AS1 | c.88211T>A (p.Val29404Glu) c.69296T>A (p.Val23099Glu) c.69095T>A (p.Val23032Glu) c.68720T>A (p.Val22907Glu) c.95915T>A (p.Val31972Glu) c.90992T>A (p.Val30331Glu) n.446+20678A>T n.2043+1953A>T c.95012T>A (p.Val31671Glu) c.68906T>A (p.Val22969Glu) c.68765T>A (p.Val22922Glu) c.94808T>A (p.Val31603Glu) c.90206T>A (p.Val30069Glu) c.90203T>A (p.Val30068Glu) c.87245T>A (p.Val29082Glu) c.68861T>A (p.Val22954Glu) c.90356T>A (p.Val30119Glu) c.90353T>A (p.Val30118Glu) c.89786T>A (p.Val29929Glu) c.87128T>A (p.Val29043Glu) c.87047T>A (p.Val29016Glu) c.68810T>A (p.Val22937Glu) c.58664T>A (p.Val19555Glu) | |
2 | g.178544315C>A | CA349456074 | TTN,TTN-AS1 | c.88210G>T (p.Val29404Leu) c.69295G>T (p.Val23099Leu) c.69094G>T (p.Val23032Leu) c.68719G>T (p.Val22907Leu) c.95914G>T (p.Val31972Leu) c.90991G>T (p.Val30331Leu) n.446+20679C>A n.2043+1954C>A c.95011G>T (p.Val31671Leu) c.68905G>T (p.Val22969Leu) c.68764G>T (p.Val22922Leu) c.94807G>T (p.Val31603Leu) c.90205G>T (p.Val30069Leu) c.90202G>T (p.Val30068Leu) c.87244G>T (p.Val29082Leu) c.68860G>T (p.Val22954Leu) c.90355G>T (p.Val30119Leu) c.90352G>T (p.Val30118Leu) c.89785G>T (p.Val29929Leu) c.87127G>T (p.Val29043Leu) c.87046G>T (p.Val29016Leu) c.68809G>T (p.Val22937Leu) c.58663G>T (p.Val19555Leu) |