| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178544455_178544457delinsCTG | CA1310521600 | TTN,TTN-AS1 | c.88068_88070delinsCAG (p.His29356=) c.69153_69155delinsCAG (p.His23051=) c.68952_68954delinsCAG (p.His22984=) c.68577_68579delinsCAG (p.His22859=) c.95772_95774delinsCAG (p.His31924=) c.90849_90851delinsCAG (p.His30283=) n.446+20819_446+20821delinsCTG n.2043+2094_2043+2096delinsCTG c.94869_94871delinsCAG (p.His31623=) c.68763_68765delinsCAG (p.His22921=) c.68622_68624delinsCAG (p.His22874=) c.94665_94667delinsCAG (p.His31555=) c.90063_90065delinsCAG (p.His30021=) c.90060_90062delinsCAG (p.His30020=) c.87102_87104delinsCAG (p.His29034=) c.68718_68720delinsCAG (p.His22906=) c.90213_90215delinsCAG (p.His30071=) c.90210_90212delinsCAG (p.His30070=) c.89643_89645delinsCAG (p.His29881=) c.86985_86987delinsCAG (p.His28995=) c.86904_86906delinsCAG (p.His28968=) c.68667_68669delinsCAG (p.His22889=) c.58521_58523delinsCAG (p.His19507=) | |
| 2 | g.178544456T>A | CA349457890 | TTN,TTN-AS1 | c.88069A>T (p.Ser29357Cys) c.69154A>T (p.Ser23052Cys) c.68953A>T (p.Ser22985Cys) c.68578A>T (p.Ser22860Cys) c.95773A>T (p.Ser31925Cys) c.90850A>T (p.Ser30284Cys) n.446+20820T>A n.2043+2095T>A c.94870A>T (p.Ser31624Cys) c.68764A>T (p.Ser22922Cys) c.68623A>T (p.Ser22875Cys) c.94666A>T (p.Ser31556Cys) c.90064A>T (p.Ser30022Cys) c.90061A>T (p.Ser30021Cys) c.87103A>T (p.Ser29035Cys) c.68719A>T (p.Ser22907Cys) c.90214A>T (p.Ser30072Cys) c.90211A>T (p.Ser30071Cys) c.89644A>T (p.Ser29882Cys) c.86986A>T (p.Ser28996Cys) c.86905A>T (p.Ser28969Cys) c.68668A>T (p.Ser22890Cys) c.58522A>T (p.Ser19508Cys) | |
| 2 | g.178544456T>C | CA349457895 | TTN,TTN-AS1 | c.88069A>G (p.Ser29357Gly) c.69154A>G (p.Ser23052Gly) c.68953A>G (p.Ser22985Gly) c.68578A>G (p.Ser22860Gly) c.95773A>G (p.Ser31925Gly) c.90850A>G (p.Ser30284Gly) n.446+20820T>C n.2043+2095T>C c.94870A>G (p.Ser31624Gly) c.68764A>G (p.Ser22922Gly) c.68623A>G (p.Ser22875Gly) c.94666A>G (p.Ser31556Gly) c.90064A>G (p.Ser30022Gly) c.90061A>G (p.Ser30021Gly) c.87103A>G (p.Ser29035Gly) c.68719A>G (p.Ser22907Gly) c.90214A>G (p.Ser30072Gly) c.90211A>G (p.Ser30071Gly) c.89644A>G (p.Ser29882Gly) c.86986A>G (p.Ser28996Gly) c.86905A>G (p.Ser28969Gly) c.68668A>G (p.Ser22890Gly) c.58522A>G (p.Ser19508Gly) | |
| 2 | g.178544456T>G | CA349457909 | TTN,TTN-AS1 | c.88069A>C (p.Ser29357Arg) c.69154A>C (p.Ser23052Arg) c.68953A>C (p.Ser22985Arg) c.68578A>C (p.Ser22860Arg) c.95773A>C (p.Ser31925Arg) c.90850A>C (p.Ser30284Arg) n.446+20820T>G n.2043+2095T>G c.94870A>C (p.Ser31624Arg) c.68764A>C (p.Ser22922Arg) c.68623A>C (p.Ser22875Arg) c.94666A>C (p.Ser31556Arg) c.90064A>C (p.Ser30022Arg) c.90061A>C (p.Ser30021Arg) c.87103A>C (p.Ser29035Arg) c.68719A>C (p.Ser22907Arg) c.90214A>C (p.Ser30072Arg) c.90211A>C (p.Ser30071Arg) c.89644A>C (p.Ser29882Arg) c.86986A>C (p.Ser28996Arg) c.86905A>C (p.Ser28969Arg) c.68668A>C (p.Ser22890Arg) c.58522A>C (p.Ser19508Arg) | |
| 2 | g.178544459_178544460del | CA16610307 | TTN,TTN-AS1 | c.88068_88069del (p.His29356GlnfsTer3) c.69153_69154del (p.His23051GlnfsTer3) c.68952_68953del (p.His22984GlnfsTer3) c.68577_68578del (p.His22859GlnfsTer3) c.95772_95773del (p.His31924GlnfsTer3) c.90849_90850del (p.His30283GlnfsTer3) n.446+20823_446+20824del n.2043+2098_2043+2099del c.94869_94870del (p.His31623GlnfsTer3) c.68763_68764del (p.His22921GlnfsTer3) c.68622_68623del (p.His22874GlnfsTer3) c.94665_94666del (p.His31555GlnfsTer3) c.90063_90064del (p.His30021GlnfsTer3) c.90060_90061del (p.His30020GlnfsTer3) c.87102_87103del (p.His29034GlnfsTer3) c.68718_68719del (p.His22906GlnfsTer3) c.90213_90214del (p.His30071GlnfsTer3) c.90210_90211del (p.His30070GlnfsTer3) c.89643_89644del (p.His29881GlnfsTer3) c.86985_86986del (p.His28995GlnfsTer3) c.86904_86905del (p.His28968GlnfsTer3) c.68667_68668del (p.His22889GlnfsTer3) c.58521_58522del (p.His19507GlnfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178544457G>A | CA430242090 | TTN,TTN-AS1 | c.88068C>T (p.His29356=) c.69153C>T (p.His23051=) c.68952C>T (p.His22984=) c.68577C>T (p.His22859=) c.95772C>T (p.His31924=) c.90849C>T (p.His30283=) n.446+20821G>A n.2043+2096G>A c.94869C>T (p.His31623=) c.68763C>T (p.His22921=) c.68622C>T (p.His22874=) c.94665C>T (p.His31555=) c.90063C>T (p.His30021=) c.90060C>T (p.His30020=) c.87102C>T (p.His29034=) c.68718C>T (p.His22906=) c.90213C>T (p.His30071=) c.90210C>T (p.His30070=) c.89643C>T (p.His29881=) c.86985C>T (p.His28995=) c.86904C>T (p.His28968=) c.68667C>T (p.His22889=) c.58521C>T (p.His19507=) | |
| 2 | g.178544457G>C | CA349457913 | TTN,TTN-AS1 | c.88068C>G (p.His29356Gln) c.69153C>G (p.His23051Gln) c.68952C>G (p.His22984Gln) c.68577C>G (p.His22859Gln) c.95772C>G (p.His31924Gln) c.90849C>G (p.His30283Gln) n.446+20821G>C n.2043+2096G>C c.94869C>G (p.His31623Gln) c.68763C>G (p.His22921Gln) c.68622C>G (p.His22874Gln) c.94665C>G (p.His31555Gln) c.90063C>G (p.His30021Gln) c.90060C>G (p.His30020Gln) c.87102C>G (p.His29034Gln) c.68718C>G (p.His22906Gln) c.90213C>G (p.His30071Gln) c.90210C>G (p.His30070Gln) c.89643C>G (p.His29881Gln) c.86985C>G (p.His28995Gln) c.86904C>G (p.His28968Gln) c.68667C>G (p.His22889Gln) c.58521C>G (p.His19507Gln) | |
| 2 | g.178544457G= | CA1310521603 | TTN,TTN-AS1 | c.88068C= (p.His29356=) c.69153C= (p.His23051=) c.68952C= (p.His22984=) c.68577C= (p.His22859=) c.95772C= (p.His31924=) c.90849C= (p.His30283=) n.446+20821G= n.2043+2096G= c.94869C= (p.His31623=) c.68763C= (p.His22921=) c.68622C= (p.His22874=) c.94665C= (p.His31555=) c.90063C= (p.His30021=) c.90060C= (p.His30020=) c.87102C= (p.His29034=) c.68718C= (p.His22906=) c.90213C= (p.His30071=) c.90210C= (p.His30070=) c.89643C= (p.His29881=) c.86985C= (p.His28995=) c.86904C= (p.His28968=) c.68667C= (p.His22889=) c.58521C= (p.His19507=) | |
| 2 | g.178544457G>T | CA1986876 | TTN,TTN-AS1 | c.88068C>A (p.His29356Gln) c.69153C>A (p.His23051Gln) c.68952C>A (p.His22984Gln) c.68577C>A (p.His22859Gln) c.95772C>A (p.His31924Gln) c.90849C>A (p.His30283Gln) n.446+20821G>T n.2043+2096G>T c.94869C>A (p.His31623Gln) c.68763C>A (p.His22921Gln) c.68622C>A (p.His22874Gln) c.94665C>A (p.His31555Gln) c.90063C>A (p.His30021Gln) c.90060C>A (p.His30020Gln) c.87102C>A (p.His29034Gln) c.68718C>A (p.His22906Gln) c.90213C>A (p.His30071Gln) c.90210C>A (p.His30070Gln) c.89643C>A (p.His29881Gln) c.86985C>A (p.His28995Gln) c.86904C>A (p.His28968Gln) c.68667C>A (p.His22889Gln) c.58521C>A (p.His19507Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544458T>A | CA349457916 | TTN,TTN-AS1 | c.88067A>T (p.His29356Leu) c.69152A>T (p.His23051Leu) c.68951A>T (p.His22984Leu) c.68576A>T (p.His22859Leu) c.95771A>T (p.His31924Leu) c.90848A>T (p.His30283Leu) n.446+20822T>A n.2043+2097T>A c.94868A>T (p.His31623Leu) c.68762A>T (p.His22921Leu) c.68621A>T (p.His22874Leu) c.94664A>T (p.His31555Leu) c.90062A>T (p.His30021Leu) c.90059A>T (p.His30020Leu) c.87101A>T (p.His29034Leu) c.68717A>T (p.His22906Leu) c.90212A>T (p.His30071Leu) c.90209A>T (p.His30070Leu) c.89642A>T (p.His29881Leu) c.86984A>T (p.His28995Leu) c.86903A>T (p.His28968Leu) c.68666A>T (p.His22889Leu) c.58520A>T (p.His19507Leu) | |
| 2 | g.178544458T>C | CA349457927 | TTN,TTN-AS1 | c.88067A>G (p.His29356Arg) c.69152A>G (p.His23051Arg) c.68951A>G (p.His22984Arg) c.68576A>G (p.His22859Arg) c.95771A>G (p.His31924Arg) c.90848A>G (p.His30283Arg) n.446+20822T>C n.2043+2097T>C c.94868A>G (p.His31623Arg) c.68762A>G (p.His22921Arg) c.68621A>G (p.His22874Arg) c.94664A>G (p.His31555Arg) c.90062A>G (p.His30021Arg) c.90059A>G (p.His30020Arg) c.87101A>G (p.His29034Arg) c.68717A>G (p.His22906Arg) c.90212A>G (p.His30071Arg) c.90209A>G (p.His30070Arg) c.89642A>G (p.His29881Arg) c.86984A>G (p.His28995Arg) c.86903A>G (p.His28968Arg) c.68666A>G (p.His22889Arg) c.58520A>G (p.His19507Arg) | |
| 2 | g.178544458T>G | CA349457920 | TTN,TTN-AS1 | c.88067A>C (p.His29356Pro) c.69152A>C (p.His23051Pro) c.68951A>C (p.His22984Pro) c.68576A>C (p.His22859Pro) c.95771A>C (p.His31924Pro) c.90848A>C (p.His30283Pro) n.446+20822T>G n.2043+2097T>G c.94868A>C (p.His31623Pro) c.68762A>C (p.His22921Pro) c.68621A>C (p.His22874Pro) c.94664A>C (p.His31555Pro) c.90062A>C (p.His30021Pro) c.90059A>C (p.His30020Pro) c.87101A>C (p.His29034Pro) c.68717A>C (p.His22906Pro) c.90212A>C (p.His30071Pro) c.90209A>C (p.His30070Pro) c.89642A>C (p.His29881Pro) c.86984A>C (p.His28995Pro) c.86903A>C (p.His28968Pro) c.68666A>C (p.His22889Pro) c.58520A>C (p.His19507Pro) | |
| 2 | g.178544458_178544459delinsTG | CA1310521606 | TTN,TTN-AS1 | c.88066_88067delinsCA (p.His29356=) c.69151_69152delinsCA (p.His23051=) c.68950_68951delinsCA (p.His22984=) c.68575_68576delinsCA (p.His22859=) c.95770_95771delinsCA (p.His31924=) c.90847_90848delinsCA (p.His30283=) n.446+20822_446+20823delinsTG n.2043+2097_2043+2098delinsTG c.94867_94868delinsCA (p.His31623=) c.68761_68762delinsCA (p.His22921=) c.68620_68621delinsCA (p.His22874=) c.94663_94664delinsCA (p.His31555=) c.90061_90062delinsCA (p.His30021=) c.90058_90059delinsCA (p.His30020=) c.87100_87101delinsCA (p.His29034=) c.68716_68717delinsCA (p.His22906=) c.90211_90212delinsCA (p.His30071=) c.90208_90209delinsCA (p.His30070=) c.89641_89642delinsCA (p.His29881=) c.86983_86984delinsCA (p.His28995=) c.86902_86903delinsCA (p.His28968=) c.68665_68666delinsCA (p.His22889=) c.58519_58520delinsCA (p.His19507=) | |
| 2 | g.178544459del | CA309457 | TTN,TTN-AS1 | c.88066del (p.His29356ThrfsTer19) c.69151del (p.His23051ThrfsTer19) c.68950del (p.His22984ThrfsTer19) c.68575del (p.His22859ThrfsTer19) c.95770del (p.His31924ThrfsTer19) c.90847del (p.His30283ThrfsTer19) n.446+20823del n.2043+2098del c.94867del (p.His31623ThrfsTer19) c.68761del (p.His22921ThrfsTer19) c.68620del (p.His22874ThrfsTer19) c.94663del (p.His31555ThrfsTer19) c.90061del (p.His30021ThrfsTer19) c.90058del (p.His30020ThrfsTer19) c.87100del (p.His29034ThrfsTer19) c.68716del (p.His22906ThrfsTer19) c.90211del (p.His30071ThrfsTer19) c.90208del (p.His30070ThrfsTer19) c.89641del (p.His29881ThrfsTer19) c.86983del (p.His28995ThrfsTer19) c.86902del (p.His28968ThrfsTer19) c.68665del (p.His22889ThrfsTer19) c.58519del (p.His19507ThrfsTer19) | ClinVar dbSNP |
| 2 | g.178544459G>A | CA349457930 | TTN,TTN-AS1 | c.88066C>T (p.His29356Tyr) c.69151C>T (p.His23051Tyr) c.68950C>T (p.His22984Tyr) c.68575C>T (p.His22859Tyr) c.95770C>T (p.His31924Tyr) c.90847C>T (p.His30283Tyr) n.446+20823G>A n.2043+2098G>A c.94867C>T (p.His31623Tyr) c.68761C>T (p.His22921Tyr) c.68620C>T (p.His22874Tyr) c.94663C>T (p.His31555Tyr) c.90061C>T (p.His30021Tyr) c.90058C>T (p.His30020Tyr) c.87100C>T (p.His29034Tyr) c.68716C>T (p.His22906Tyr) c.90211C>T (p.His30071Tyr) c.90208C>T (p.His30070Tyr) c.89641C>T (p.His29881Tyr) c.86983C>T (p.His28995Tyr) c.86902C>T (p.His28968Tyr) c.68665C>T (p.His22889Tyr) c.58519C>T (p.His19507Tyr) | |
| 2 | g.178544459G>C | CA349457932 | TTN,TTN-AS1 | c.88066C>G (p.His29356Asp) c.69151C>G (p.His23051Asp) c.68950C>G (p.His22984Asp) c.68575C>G (p.His22859Asp) c.95770C>G (p.His31924Asp) c.90847C>G (p.His30283Asp) n.446+20823G>C n.2043+2098G>C c.94867C>G (p.His31623Asp) c.68761C>G (p.His22921Asp) c.68620C>G (p.His22874Asp) c.94663C>G (p.His31555Asp) c.90061C>G (p.His30021Asp) c.90058C>G (p.His30020Asp) c.87100C>G (p.His29034Asp) c.68716C>G (p.His22906Asp) c.90211C>G (p.His30071Asp) c.90208C>G (p.His30070Asp) c.89641C>G (p.His29881Asp) c.86983C>G (p.His28995Asp) c.86902C>G (p.His28968Asp) c.68665C>G (p.His22889Asp) c.58519C>G (p.His19507Asp) | |
| 2 | g.178544459G>T | CA349457934 | TTN,TTN-AS1 | c.88066C>A (p.His29356Asn) c.69151C>A (p.His23051Asn) c.68950C>A (p.His22984Asn) c.68575C>A (p.His22859Asn) c.95770C>A (p.His31924Asn) c.90847C>A (p.His30283Asn) n.446+20823G>T n.2043+2098G>T c.94867C>A (p.His31623Asn) c.68761C>A (p.His22921Asn) c.68620C>A (p.His22874Asn) c.94663C>A (p.His31555Asn) c.90061C>A (p.His30021Asn) c.90058C>A (p.His30020Asn) c.87100C>A (p.His29034Asn) c.68716C>A (p.His22906Asn) c.90211C>A (p.His30071Asn) c.90208C>A (p.His30070Asn) c.89641C>A (p.His29881Asn) c.86983C>A (p.His28995Asn) c.86902C>A (p.His28968Asn) c.68665C>A (p.His22889Asn) c.58519C>A (p.His19507Asn) | |
| 2 | g.178544460T>A | CA349457938 | TTN,TTN-AS1 | c.88065A>T (p.Lys29355Asn) c.69150A>T (p.Lys23050Asn) c.68949A>T (p.Lys22983Asn) c.68574A>T (p.Lys22858Asn) c.95769A>T (p.Lys31923Asn) c.90846A>T (p.Lys30282Asn) n.446+20824T>A n.2043+2099T>A c.94866A>T (p.Lys31622Asn) c.68760A>T (p.Lys22920Asn) c.68619A>T (p.Lys22873Asn) c.94662A>T (p.Lys31554Asn) c.90060A>T (p.Lys30020Asn) c.90057A>T (p.Lys30019Asn) c.87099A>T (p.Lys29033Asn) c.68715A>T (p.Lys22905Asn) c.90210A>T (p.Lys30070Asn) c.90207A>T (p.Lys30069Asn) c.89640A>T (p.Lys29880Asn) c.86982A>T (p.Lys28994Asn) c.86901A>T (p.Lys28967Asn) c.68664A>T (p.Lys22888Asn) c.58518A>T (p.Lys19506Asn) | |
| 2 | g.178544460T>C | CA430242101 | TTN,TTN-AS1 | c.88065A>G (p.Lys29355=) c.69150A>G (p.Lys23050=) c.68949A>G (p.Lys22983=) c.68574A>G (p.Lys22858=) c.95769A>G (p.Lys31923=) c.90846A>G (p.Lys30282=) n.446+20824T>C n.2043+2099T>C c.94866A>G (p.Lys31622=) c.68760A>G (p.Lys22920=) c.68619A>G (p.Lys22873=) c.94662A>G (p.Lys31554=) c.90060A>G (p.Lys30020=) c.90057A>G (p.Lys30019=) c.87099A>G (p.Lys29033=) c.68715A>G (p.Lys22905=) c.90210A>G (p.Lys30070=) c.90207A>G (p.Lys30069=) c.89640A>G (p.Lys29880=) c.86982A>G (p.Lys28994=) c.86901A>G (p.Lys28967=) c.68664A>G (p.Lys22888=) c.58518A>G (p.Lys19506=) | |
| 2 | g.178544460T>G | CA349457943 | TTN,TTN-AS1 | c.88065A>C (p.Lys29355Asn) c.69150A>C (p.Lys23050Asn) c.68949A>C (p.Lys22983Asn) c.68574A>C (p.Lys22858Asn) c.95769A>C (p.Lys31923Asn) c.90846A>C (p.Lys30282Asn) n.446+20824T>G n.2043+2099T>G c.94866A>C (p.Lys31622Asn) c.68760A>C (p.Lys22920Asn) c.68619A>C (p.Lys22873Asn) c.94662A>C (p.Lys31554Asn) c.90060A>C (p.Lys30020Asn) c.90057A>C (p.Lys30019Asn) c.87099A>C (p.Lys29033Asn) c.68715A>C (p.Lys22905Asn) c.90210A>C (p.Lys30070Asn) c.90207A>C (p.Lys30069Asn) c.89640A>C (p.Lys29880Asn) c.86982A>C (p.Lys28994Asn) c.86901A>C (p.Lys28967Asn) c.68664A>C (p.Lys22888Asn) c.58518A>C (p.Lys19506Asn) | |
| 2 | g.178544461T>A | CA349457944 | TTN,TTN-AS1 | c.88064A>T (p.Lys29355Ile) c.69149A>T (p.Lys23050Ile) c.68948A>T (p.Lys22983Ile) c.68573A>T (p.Lys22858Ile) c.95768A>T (p.Lys31923Ile) c.90845A>T (p.Lys30282Ile) n.446+20825T>A n.2043+2100T>A c.94865A>T (p.Lys31622Ile) c.68759A>T (p.Lys22920Ile) c.68618A>T (p.Lys22873Ile) c.94661A>T (p.Lys31554Ile) c.90059A>T (p.Lys30020Ile) c.90056A>T (p.Lys30019Ile) c.87098A>T (p.Lys29033Ile) c.68714A>T (p.Lys22905Ile) c.90209A>T (p.Lys30070Ile) c.90206A>T (p.Lys30069Ile) c.89639A>T (p.Lys29880Ile) c.86981A>T (p.Lys28994Ile) c.86900A>T (p.Lys28967Ile) c.68663A>T (p.Lys22888Ile) c.58517A>T (p.Lys19506Ile) | |
| 2 | g.178544461T>C | CA349457945 | TTN,TTN-AS1 | c.88064A>G (p.Lys29355Arg) c.69149A>G (p.Lys23050Arg) c.68948A>G (p.Lys22983Arg) c.68573A>G (p.Lys22858Arg) c.95768A>G (p.Lys31923Arg) c.90845A>G (p.Lys30282Arg) n.446+20825T>C n.2043+2100T>C c.94865A>G (p.Lys31622Arg) c.68759A>G (p.Lys22920Arg) c.68618A>G (p.Lys22873Arg) c.94661A>G (p.Lys31554Arg) c.90059A>G (p.Lys30020Arg) c.90056A>G (p.Lys30019Arg) c.87098A>G (p.Lys29033Arg) c.68714A>G (p.Lys22905Arg) c.90209A>G (p.Lys30070Arg) c.90206A>G (p.Lys30069Arg) c.89639A>G (p.Lys29880Arg) c.86981A>G (p.Lys28994Arg) c.86900A>G (p.Lys28967Arg) c.68663A>G (p.Lys22888Arg) c.58517A>G (p.Lys19506Arg) | |
| 2 | g.178544461T>G | CA349457969 | TTN,TTN-AS1 | c.88064A>C (p.Lys29355Thr) c.69149A>C (p.Lys23050Thr) c.68948A>C (p.Lys22983Thr) c.68573A>C (p.Lys22858Thr) c.95768A>C (p.Lys31923Thr) c.90845A>C (p.Lys30282Thr) n.446+20825T>G n.2043+2100T>G c.94865A>C (p.Lys31622Thr) c.68759A>C (p.Lys22920Thr) c.68618A>C (p.Lys22873Thr) c.94661A>C (p.Lys31554Thr) c.90059A>C (p.Lys30020Thr) c.90056A>C (p.Lys30019Thr) c.87098A>C (p.Lys29033Thr) c.68714A>C (p.Lys22905Thr) c.90209A>C (p.Lys30070Thr) c.90206A>C (p.Lys30069Thr) c.89639A>C (p.Lys29880Thr) c.86981A>C (p.Lys28994Thr) c.86900A>C (p.Lys28967Thr) c.68663A>C (p.Lys22888Thr) c.58517A>C (p.Lys19506Thr) | |
| 2 | g.178544462T>A | CA349457976 | TTN,TTN-AS1 | c.88063A>T (p.Lys29355Ter) c.69148A>T (p.Lys23050Ter) c.68947A>T (p.Lys22983Ter) c.68572A>T (p.Lys22858Ter) c.95767A>T (p.Lys31923Ter) c.90844A>T (p.Lys30282Ter) n.446+20826T>A n.2043+2101T>A c.94864A>T (p.Lys31622Ter) c.68758A>T (p.Lys22920Ter) c.68617A>T (p.Lys22873Ter) c.94660A>T (p.Lys31554Ter) c.90058A>T (p.Lys30020Ter) c.90055A>T (p.Lys30019Ter) c.87097A>T (p.Lys29033Ter) c.68713A>T (p.Lys22905Ter) c.90208A>T (p.Lys30070Ter) c.90205A>T (p.Lys30069Ter) c.89638A>T (p.Lys29880Ter) c.86980A>T (p.Lys28994Ter) c.86899A>T (p.Lys28967Ter) c.68662A>T (p.Lys22888Ter) c.58516A>T (p.Lys19506Ter) | |
| 2 | g.178544462T>C | CA349457980 | TTN,TTN-AS1 | c.88063A>G (p.Lys29355Glu) c.69148A>G (p.Lys23050Glu) c.68947A>G (p.Lys22983Glu) c.68572A>G (p.Lys22858Glu) c.95767A>G (p.Lys31923Glu) c.90844A>G (p.Lys30282Glu) n.446+20826T>C n.2043+2101T>C c.94864A>G (p.Lys31622Glu) c.68758A>G (p.Lys22920Glu) c.68617A>G (p.Lys22873Glu) c.94660A>G (p.Lys31554Glu) c.90058A>G (p.Lys30020Glu) c.90055A>G (p.Lys30019Glu) c.87097A>G (p.Lys29033Glu) c.68713A>G (p.Lys22905Glu) c.90208A>G (p.Lys30070Glu) c.90205A>G (p.Lys30069Glu) c.89638A>G (p.Lys29880Glu) c.86980A>G (p.Lys28994Glu) c.86899A>G (p.Lys28967Glu) c.68662A>G (p.Lys22888Glu) c.58516A>G (p.Lys19506Glu) | gnomAD v4 |
| 2 | g.178544462T>G | CA349457989 | TTN,TTN-AS1 | c.88063A>C (p.Lys29355Gln) c.69148A>C (p.Lys23050Gln) c.68947A>C (p.Lys22983Gln) c.68572A>C (p.Lys22858Gln) c.95767A>C (p.Lys31923Gln) c.90844A>C (p.Lys30282Gln) n.446+20826T>G n.2043+2101T>G c.94864A>C (p.Lys31622Gln) c.68758A>C (p.Lys22920Gln) c.68617A>C (p.Lys22873Gln) c.94660A>C (p.Lys31554Gln) c.90058A>C (p.Lys30020Gln) c.90055A>C (p.Lys30019Gln) c.87097A>C (p.Lys29033Gln) c.68713A>C (p.Lys22905Gln) c.90208A>C (p.Lys30070Gln) c.90205A>C (p.Lys30069Gln) c.89638A>C (p.Lys29880Gln) c.86980A>C (p.Lys28994Gln) c.86899A>C (p.Lys28967Gln) c.68662A>C (p.Lys22888Gln) c.58516A>C (p.Lys19506Gln) | |
| 2 | g.178544463G>A | CA430242105 | TTN,TTN-AS1 | c.88062C>T (p.Thr29354=) c.69147C>T (p.Thr23049=) c.68946C>T (p.Thr22982=) c.68571C>T (p.Thr22857=) c.95766C>T (p.Thr31922=) c.90843C>T (p.Thr30281=) n.446+20827G>A n.2043+2102G>A c.94863C>T (p.Thr31621=) c.68757C>T (p.Thr22919=) c.68616C>T (p.Thr22872=) c.94659C>T (p.Thr31553=) c.90057C>T (p.Thr30019=) c.90054C>T (p.Thr30018=) c.87096C>T (p.Thr29032=) c.68712C>T (p.Thr22904=) c.90207C>T (p.Thr30069=) c.90204C>T (p.Thr30068=) c.89637C>T (p.Thr29879=) c.86979C>T (p.Thr28993=) c.86898C>T (p.Thr28966=) c.68661C>T (p.Thr22887=) c.58515C>T (p.Thr19505=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178544463G>C | CA430242106 | TTN,TTN-AS1 | c.88062C>G (p.Thr29354=) c.69147C>G (p.Thr23049=) c.68946C>G (p.Thr22982=) c.68571C>G (p.Thr22857=) c.95766C>G (p.Thr31922=) c.90843C>G (p.Thr30281=) n.446+20827G>C n.2043+2102G>C c.94863C>G (p.Thr31621=) c.68757C>G (p.Thr22919=) c.68616C>G (p.Thr22872=) c.94659C>G (p.Thr31553=) c.90057C>G (p.Thr30019=) c.90054C>G (p.Thr30018=) c.87096C>G (p.Thr29032=) c.68712C>G (p.Thr22904=) c.90207C>G (p.Thr30069=) c.90204C>G (p.Thr30068=) c.89637C>G (p.Thr29879=) c.86979C>G (p.Thr28993=) c.86898C>G (p.Thr28966=) c.68661C>G (p.Thr22887=) c.58515C>G (p.Thr19505=) | |
| 2 | g.178544463G>T | CA430242108 | TTN,TTN-AS1 | c.88062C>A (p.Thr29354=) c.69147C>A (p.Thr23049=) c.68946C>A (p.Thr22982=) c.68571C>A (p.Thr22857=) c.95766C>A (p.Thr31922=) c.90843C>A (p.Thr30281=) n.446+20827G>T n.2043+2102G>T c.94863C>A (p.Thr31621=) c.68757C>A (p.Thr22919=) c.68616C>A (p.Thr22872=) c.94659C>A (p.Thr31553=) c.90057C>A (p.Thr30019=) c.90054C>A (p.Thr30018=) c.87096C>A (p.Thr29032=) c.68712C>A (p.Thr22904=) c.90207C>A (p.Thr30069=) c.90204C>A (p.Thr30068=) c.89637C>A (p.Thr29879=) c.86979C>A (p.Thr28993=) c.86898C>A (p.Thr28966=) c.68661C>A (p.Thr22887=) c.58515C>A (p.Thr19505=) | ClinVar dbSNP |
| 2 | g.178544464G>A | CA349457997 | TTN,TTN-AS1 | c.88061C>T (p.Thr29354Ile) c.69146C>T (p.Thr23049Ile) c.68945C>T (p.Thr22982Ile) c.68570C>T (p.Thr22857Ile) c.95765C>T (p.Thr31922Ile) c.90842C>T (p.Thr30281Ile) n.446+20828G>A n.2043+2103G>A c.94862C>T (p.Thr31621Ile) c.68756C>T (p.Thr22919Ile) c.68615C>T (p.Thr22872Ile) c.94658C>T (p.Thr31553Ile) c.90056C>T (p.Thr30019Ile) c.90053C>T (p.Thr30018Ile) c.87095C>T (p.Thr29032Ile) c.68711C>T (p.Thr22904Ile) c.90206C>T (p.Thr30069Ile) c.90203C>T (p.Thr30068Ile) c.89636C>T (p.Thr29879Ile) c.86978C>T (p.Thr28993Ile) c.86897C>T (p.Thr28966Ile) c.68660C>T (p.Thr22887Ile) c.58514C>T (p.Thr19505Ile) | |
| 2 | g.178544464G>C | CA1986877 | TTN,TTN-AS1 | c.88061C>G (p.Thr29354Ser) c.69146C>G (p.Thr23049Ser) c.68945C>G (p.Thr22982Ser) c.68570C>G (p.Thr22857Ser) c.95765C>G (p.Thr31922Ser) c.90842C>G (p.Thr30281Ser) n.446+20828G>C n.2043+2103G>C c.94862C>G (p.Thr31621Ser) c.68756C>G (p.Thr22919Ser) c.68615C>G (p.Thr22872Ser) c.94658C>G (p.Thr31553Ser) c.90056C>G (p.Thr30019Ser) c.90053C>G (p.Thr30018Ser) c.87095C>G (p.Thr29032Ser) c.68711C>G (p.Thr22904Ser) c.90206C>G (p.Thr30069Ser) c.90203C>G (p.Thr30068Ser) c.89636C>G (p.Thr29879Ser) c.86978C>G (p.Thr28993Ser) c.86897C>G (p.Thr28966Ser) c.68660C>G (p.Thr22887Ser) c.58514C>G (p.Thr19505Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544464G= | CA1310521610 | TTN,TTN-AS1 | c.88061C= (p.Thr29354=) c.69146C= (p.Thr23049=) c.68945C= (p.Thr22982=) c.68570C= (p.Thr22857=) c.95765C= (p.Thr31922=) c.90842C= (p.Thr30281=) n.446+20828G= n.2043+2103G= c.94862C= (p.Thr31621=) c.68756C= (p.Thr22919=) c.68615C= (p.Thr22872=) c.94658C= (p.Thr31553=) c.90056C= (p.Thr30019=) c.90053C= (p.Thr30018=) c.87095C= (p.Thr29032=) c.68711C= (p.Thr22904=) c.90206C= (p.Thr30069=) c.90203C= (p.Thr30068=) c.89636C= (p.Thr29879=) c.86978C= (p.Thr28993=) c.86897C= (p.Thr28966=) c.68660C= (p.Thr22887=) c.58514C= (p.Thr19505=) | |
| 2 | g.178544464G>T | CA349457995 | TTN,TTN-AS1 | c.88061C>A (p.Thr29354Asn) c.69146C>A (p.Thr23049Asn) c.68945C>A (p.Thr22982Asn) c.68570C>A (p.Thr22857Asn) c.95765C>A (p.Thr31922Asn) c.90842C>A (p.Thr30281Asn) n.446+20828G>T n.2043+2103G>T c.94862C>A (p.Thr31621Asn) c.68756C>A (p.Thr22919Asn) c.68615C>A (p.Thr22872Asn) c.94658C>A (p.Thr31553Asn) c.90056C>A (p.Thr30019Asn) c.90053C>A (p.Thr30018Asn) c.87095C>A (p.Thr29032Asn) c.68711C>A (p.Thr22904Asn) c.90206C>A (p.Thr30069Asn) c.90203C>A (p.Thr30068Asn) c.89636C>A (p.Thr29879Asn) c.86978C>A (p.Thr28993Asn) c.86897C>A (p.Thr28966Asn) c.68660C>A (p.Thr22887Asn) c.58514C>A (p.Thr19505Asn) | |
| 2 | g.178544465T>A | CA349458000 | TTN,TTN-AS1 | c.88060A>T (p.Thr29354Ser) c.69145A>T (p.Thr23049Ser) c.68944A>T (p.Thr22982Ser) c.68569A>T (p.Thr22857Ser) c.95764A>T (p.Thr31922Ser) c.90841A>T (p.Thr30281Ser) n.446+20829T>A n.2043+2104T>A c.94861A>T (p.Thr31621Ser) c.68755A>T (p.Thr22919Ser) c.68614A>T (p.Thr22872Ser) c.94657A>T (p.Thr31553Ser) c.90055A>T (p.Thr30019Ser) c.90052A>T (p.Thr30018Ser) c.87094A>T (p.Thr29032Ser) c.68710A>T (p.Thr22904Ser) c.90205A>T (p.Thr30069Ser) c.90202A>T (p.Thr30068Ser) c.89635A>T (p.Thr29879Ser) c.86977A>T (p.Thr28993Ser) c.86896A>T (p.Thr28966Ser) c.68659A>T (p.Thr22887Ser) c.58513A>T (p.Thr19505Ser) | |
| 2 | g.178544465T>C | CA1986878 | TTN,TTN-AS1 | c.88060A>G (p.Thr29354Ala) c.69145A>G (p.Thr23049Ala) c.68944A>G (p.Thr22982Ala) c.68569A>G (p.Thr22857Ala) c.95764A>G (p.Thr31922Ala) c.90841A>G (p.Thr30281Ala) n.446+20829T>C n.2043+2104T>C c.94861A>G (p.Thr31621Ala) c.68755A>G (p.Thr22919Ala) c.68614A>G (p.Thr22872Ala) c.94657A>G (p.Thr31553Ala) c.90055A>G (p.Thr30019Ala) c.90052A>G (p.Thr30018Ala) c.87094A>G (p.Thr29032Ala) c.68710A>G (p.Thr22904Ala) c.90205A>G (p.Thr30069Ala) c.90202A>G (p.Thr30068Ala) c.89635A>G (p.Thr29879Ala) c.86977A>G (p.Thr28993Ala) c.86896A>G (p.Thr28966Ala) c.68659A>G (p.Thr22887Ala) c.58513A>G (p.Thr19505Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544465T>G | CA349458006 | TTN,TTN-AS1 | c.88060A>C (p.Thr29354Pro) c.69145A>C (p.Thr23049Pro) c.68944A>C (p.Thr22982Pro) c.68569A>C (p.Thr22857Pro) c.95764A>C (p.Thr31922Pro) c.90841A>C (p.Thr30281Pro) n.446+20829T>G n.2043+2104T>G c.94861A>C (p.Thr31621Pro) c.68755A>C (p.Thr22919Pro) c.68614A>C (p.Thr22872Pro) c.94657A>C (p.Thr31553Pro) c.90055A>C (p.Thr30019Pro) c.90052A>C (p.Thr30018Pro) c.87094A>C (p.Thr29032Pro) c.68710A>C (p.Thr22904Pro) c.90205A>C (p.Thr30069Pro) c.90202A>C (p.Thr30068Pro) c.89635A>C (p.Thr29879Pro) c.86977A>C (p.Thr28993Pro) c.86896A>C (p.Thr28966Pro) c.68659A>C (p.Thr22887Pro) c.58513A>C (p.Thr19505Pro) | |
| 2 | g.178544465T= | CA1310521614 | TTN,TTN-AS1 | c.88060A= (p.Thr29354=) c.69145A= (p.Thr23049=) c.68944A= (p.Thr22982=) c.68569A= (p.Thr22857=) c.95764A= (p.Thr31922=) c.90841A= (p.Thr30281=) n.446+20829T= n.2043+2104T= c.94861A= (p.Thr31621=) c.68755A= (p.Thr22919=) c.68614A= (p.Thr22872=) c.94657A= (p.Thr31553=) c.90055A= (p.Thr30019=) c.90052A= (p.Thr30018=) c.87094A= (p.Thr29032=) c.68710A= (p.Thr22904=) c.90205A= (p.Thr30069=) c.90202A= (p.Thr30068=) c.89635A= (p.Thr29879=) c.86977A= (p.Thr28993=) c.86896A= (p.Thr28966=) c.68659A= (p.Thr22887=) c.58513A= (p.Thr19505=) | |
| 2 | g.178544466G>A | CA430242113 | TTN,TTN-AS1 | c.88059C>T (p.Thr29353=) c.69144C>T (p.Thr23048=) c.68943C>T (p.Thr22981=) c.68568C>T (p.Thr22856=) c.95763C>T (p.Thr31921=) c.90840C>T (p.Thr30280=) n.446+20830G>A n.2043+2105G>A c.94860C>T (p.Thr31620=) c.68754C>T (p.Thr22918=) c.68613C>T (p.Thr22871=) c.94656C>T (p.Thr31552=) c.90054C>T (p.Thr30018=) c.90051C>T (p.Thr30017=) c.87093C>T (p.Thr29031=) c.68709C>T (p.Thr22903=) c.90204C>T (p.Thr30068=) c.90201C>T (p.Thr30067=) c.89634C>T (p.Thr29878=) c.86976C>T (p.Thr28992=) c.86895C>T (p.Thr28965=) c.68658C>T (p.Thr22886=) c.58512C>T (p.Thr19504=) | |
| 2 | g.178544466G>C | CA430242117 | TTN,TTN-AS1 | c.88059C>G (p.Thr29353=) c.69144C>G (p.Thr23048=) c.68943C>G (p.Thr22981=) c.68568C>G (p.Thr22856=) c.95763C>G (p.Thr31921=) c.90840C>G (p.Thr30280=) n.446+20830G>C n.2043+2105G>C c.94860C>G (p.Thr31620=) c.68754C>G (p.Thr22918=) c.68613C>G (p.Thr22871=) c.94656C>G (p.Thr31552=) c.90054C>G (p.Thr30018=) c.90051C>G (p.Thr30017=) c.87093C>G (p.Thr29031=) c.68709C>G (p.Thr22903=) c.90204C>G (p.Thr30068=) c.90201C>G (p.Thr30067=) c.89634C>G (p.Thr29878=) c.86976C>G (p.Thr28992=) c.86895C>G (p.Thr28965=) c.68658C>G (p.Thr22886=) c.58512C>G (p.Thr19504=) | |
| 2 | g.178544466G>T | CA430242120 | TTN,TTN-AS1 | c.88059C>A (p.Thr29353=) c.69144C>A (p.Thr23048=) c.68943C>A (p.Thr22981=) c.68568C>A (p.Thr22856=) c.95763C>A (p.Thr31921=) c.90840C>A (p.Thr30280=) n.446+20830G>T n.2043+2105G>T c.94860C>A (p.Thr31620=) c.68754C>A (p.Thr22918=) c.68613C>A (p.Thr22871=) c.94656C>A (p.Thr31552=) c.90054C>A (p.Thr30018=) c.90051C>A (p.Thr30017=) c.87093C>A (p.Thr29031=) c.68709C>A (p.Thr22903=) c.90204C>A (p.Thr30068=) c.90201C>A (p.Thr30067=) c.89634C>A (p.Thr29878=) c.86976C>A (p.Thr28992=) c.86895C>A (p.Thr28965=) c.68658C>A (p.Thr22886=) c.58512C>A (p.Thr19504=) | |
| 2 | g.178544467G>A | CA349458008 | TTN,TTN-AS1 | c.88058C>T (p.Thr29353Ile) c.69143C>T (p.Thr23048Ile) c.68942C>T (p.Thr22981Ile) c.68567C>T (p.Thr22856Ile) c.95762C>T (p.Thr31921Ile) c.90839C>T (p.Thr30280Ile) n.446+20831G>A n.2043+2106G>A c.94859C>T (p.Thr31620Ile) c.68753C>T (p.Thr22918Ile) c.68612C>T (p.Thr22871Ile) c.94655C>T (p.Thr31552Ile) c.90053C>T (p.Thr30018Ile) c.90050C>T (p.Thr30017Ile) c.87092C>T (p.Thr29031Ile) c.68708C>T (p.Thr22903Ile) c.90203C>T (p.Thr30068Ile) c.90200C>T (p.Thr30067Ile) c.89633C>T (p.Thr29878Ile) c.86975C>T (p.Thr28992Ile) c.86894C>T (p.Thr28965Ile) c.68657C>T (p.Thr22886Ile) c.58511C>T (p.Thr19504Ile) | |
| 2 | g.178544467G>C | CA349458009 | TTN,TTN-AS1 | c.88058C>G (p.Thr29353Ser) c.69143C>G (p.Thr23048Ser) c.68942C>G (p.Thr22981Ser) c.68567C>G (p.Thr22856Ser) c.95762C>G (p.Thr31921Ser) c.90839C>G (p.Thr30280Ser) n.446+20831G>C n.2043+2106G>C c.94859C>G (p.Thr31620Ser) c.68753C>G (p.Thr22918Ser) c.68612C>G (p.Thr22871Ser) c.94655C>G (p.Thr31552Ser) c.90053C>G (p.Thr30018Ser) c.90050C>G (p.Thr30017Ser) c.87092C>G (p.Thr29031Ser) c.68708C>G (p.Thr22903Ser) c.90203C>G (p.Thr30068Ser) c.90200C>G (p.Thr30067Ser) c.89633C>G (p.Thr29878Ser) c.86975C>G (p.Thr28992Ser) c.86894C>G (p.Thr28965Ser) c.68657C>G (p.Thr22886Ser) c.58511C>G (p.Thr19504Ser) | |
| 2 | g.178544467G= | CA1310521616 | TTN,TTN-AS1 | c.88058C= (p.Thr29353=) c.69143C= (p.Thr23048=) c.68942C= (p.Thr22981=) c.68567C= (p.Thr22856=) c.95762C= (p.Thr31921=) c.90839C= (p.Thr30280=) n.446+20831G= n.2043+2106G= c.94859C= (p.Thr31620=) c.68753C= (p.Thr22918=) c.68612C= (p.Thr22871=) c.94655C= (p.Thr31552=) c.90053C= (p.Thr30018=) c.90050C= (p.Thr30017=) c.87092C= (p.Thr29031=) c.68708C= (p.Thr22903=) c.90203C= (p.Thr30068=) c.90200C= (p.Thr30067=) c.89633C= (p.Thr29878=) c.86975C= (p.Thr28992=) c.86894C= (p.Thr28965=) c.68657C= (p.Thr22886=) c.58511C= (p.Thr19504=) | |
| 2 | g.178544467G>T | CA349458010 | TTN,TTN-AS1 | c.88058C>A (p.Thr29353Asn) c.69143C>A (p.Thr23048Asn) c.68942C>A (p.Thr22981Asn) c.68567C>A (p.Thr22856Asn) c.95762C>A (p.Thr31921Asn) c.90839C>A (p.Thr30280Asn) n.446+20831G>T n.2043+2106G>T c.94859C>A (p.Thr31620Asn) c.68753C>A (p.Thr22918Asn) c.68612C>A (p.Thr22871Asn) c.94655C>A (p.Thr31552Asn) c.90053C>A (p.Thr30018Asn) c.90050C>A (p.Thr30017Asn) c.87092C>A (p.Thr29031Asn) c.68708C>A (p.Thr22903Asn) c.90203C>A (p.Thr30068Asn) c.90200C>A (p.Thr30067Asn) c.89633C>A (p.Thr29878Asn) c.86975C>A (p.Thr28992Asn) c.86894C>A (p.Thr28965Asn) c.68657C>A (p.Thr22886Asn) c.58511C>A (p.Thr19504Asn) | dbSNP gnomAD v2 |
| 2 | g.178544468T>A | CA349458011 | TTN,TTN-AS1 | c.88057A>T (p.Thr29353Ser) c.69142A>T (p.Thr23048Ser) c.68941A>T (p.Thr22981Ser) c.68566A>T (p.Thr22856Ser) c.95761A>T (p.Thr31921Ser) c.90838A>T (p.Thr30280Ser) n.446+20832T>A n.2043+2107T>A c.94858A>T (p.Thr31620Ser) c.68752A>T (p.Thr22918Ser) c.68611A>T (p.Thr22871Ser) c.94654A>T (p.Thr31552Ser) c.90052A>T (p.Thr30018Ser) c.90049A>T (p.Thr30017Ser) c.87091A>T (p.Thr29031Ser) c.68707A>T (p.Thr22903Ser) c.90202A>T (p.Thr30068Ser) c.90199A>T (p.Thr30067Ser) c.89632A>T (p.Thr29878Ser) c.86974A>T (p.Thr28992Ser) c.86893A>T (p.Thr28965Ser) c.68656A>T (p.Thr22886Ser) c.58510A>T (p.Thr19504Ser) | |
| 2 | g.178544468T>C | CA349458014 | TTN,TTN-AS1 | c.88057A>G (p.Thr29353Ala) c.69142A>G (p.Thr23048Ala) c.68941A>G (p.Thr22981Ala) c.68566A>G (p.Thr22856Ala) c.95761A>G (p.Thr31921Ala) c.90838A>G (p.Thr30280Ala) n.446+20832T>C n.2043+2107T>C c.94858A>G (p.Thr31620Ala) c.68752A>G (p.Thr22918Ala) c.68611A>G (p.Thr22871Ala) c.94654A>G (p.Thr31552Ala) c.90052A>G (p.Thr30018Ala) c.90049A>G (p.Thr30017Ala) c.87091A>G (p.Thr29031Ala) c.68707A>G (p.Thr22903Ala) c.90202A>G (p.Thr30068Ala) c.90199A>G (p.Thr30067Ala) c.89632A>G (p.Thr29878Ala) c.86974A>G (p.Thr28992Ala) c.86893A>G (p.Thr28965Ala) c.68656A>G (p.Thr22886Ala) c.58510A>G (p.Thr19504Ala) | |
| 2 | g.178544468T>G | CA349458021 | TTN,TTN-AS1 | c.88057A>C (p.Thr29353Pro) c.69142A>C (p.Thr23048Pro) c.68941A>C (p.Thr22981Pro) c.68566A>C (p.Thr22856Pro) c.95761A>C (p.Thr31921Pro) c.90838A>C (p.Thr30280Pro) n.446+20832T>G n.2043+2107T>G c.94858A>C (p.Thr31620Pro) c.68752A>C (p.Thr22918Pro) c.68611A>C (p.Thr22871Pro) c.94654A>C (p.Thr31552Pro) c.90052A>C (p.Thr30018Pro) c.90049A>C (p.Thr30017Pro) c.87091A>C (p.Thr29031Pro) c.68707A>C (p.Thr22903Pro) c.90202A>C (p.Thr30068Pro) c.90199A>C (p.Thr30067Pro) c.89632A>C (p.Thr29878Pro) c.86974A>C (p.Thr28992Pro) c.86893A>C (p.Thr28965Pro) c.68656A>C (p.Thr22886Pro) c.58510A>C (p.Thr19504Pro) | |
| 2 | g.178544469A>C | CA349458022 | TTN,TTN-AS1 | c.88056T>G (p.Asp29352Glu) c.69141T>G (p.Asp23047Glu) c.68940T>G (p.Asp22980Glu) c.68565T>G (p.Asp22855Glu) c.95760T>G (p.Asp31920Glu) c.90837T>G (p.Asp30279Glu) n.446+20833A>C n.2043+2108A>C c.94857T>G (p.Asp31619Glu) c.68751T>G (p.Asp22917Glu) c.68610T>G (p.Asp22870Glu) c.94653T>G (p.Asp31551Glu) c.90051T>G (p.Asp30017Glu) c.90048T>G (p.Asp30016Glu) c.87090T>G (p.Asp29030Glu) c.68706T>G (p.Asp22902Glu) c.90201T>G (p.Asp30067Glu) c.90198T>G (p.Asp30066Glu) c.89631T>G (p.Asp29877Glu) c.86973T>G (p.Asp28991Glu) c.86892T>G (p.Asp28964Glu) c.68655T>G (p.Asp22885Glu) c.58509T>G (p.Asp19503Glu) | |
| 2 | g.178544469A>G | CA430242127 | TTN,TTN-AS1 | c.88056T>C (p.Asp29352=) c.69141T>C (p.Asp23047=) c.68940T>C (p.Asp22980=) c.68565T>C (p.Asp22855=) c.95760T>C (p.Asp31920=) c.90837T>C (p.Asp30279=) n.446+20833A>G n.2043+2108A>G c.94857T>C (p.Asp31619=) c.68751T>C (p.Asp22917=) c.68610T>C (p.Asp22870=) c.94653T>C (p.Asp31551=) c.90051T>C (p.Asp30017=) c.90048T>C (p.Asp30016=) c.87090T>C (p.Asp29030=) c.68706T>C (p.Asp22902=) c.90201T>C (p.Asp30067=) c.90198T>C (p.Asp30066=) c.89631T>C (p.Asp29877=) c.86973T>C (p.Asp28991=) c.86892T>C (p.Asp28964=) c.68655T>C (p.Asp22885=) c.58509T>C (p.Asp19503=) | |
| 2 | g.178544469A>T | CA349458025 | TTN,TTN-AS1 | c.88056T>A (p.Asp29352Glu) c.69141T>A (p.Asp23047Glu) c.68940T>A (p.Asp22980Glu) c.68565T>A (p.Asp22855Glu) c.95760T>A (p.Asp31920Glu) c.90837T>A (p.Asp30279Glu) n.446+20833A>T n.2043+2108A>T c.94857T>A (p.Asp31619Glu) c.68751T>A (p.Asp22917Glu) c.68610T>A (p.Asp22870Glu) c.94653T>A (p.Asp31551Glu) c.90051T>A (p.Asp30017Glu) c.90048T>A (p.Asp30016Glu) c.87090T>A (p.Asp29030Glu) c.68706T>A (p.Asp22902Glu) c.90201T>A (p.Asp30067Glu) c.90198T>A (p.Asp30066Glu) c.89631T>A (p.Asp29877Glu) c.86973T>A (p.Asp28991Glu) c.86892T>A (p.Asp28964Glu) c.68655T>A (p.Asp22885Glu) c.58509T>A (p.Asp19503Glu) |