Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178552668A>C | CA349512646 | TTN,TTN-AS1 | c.82528T>G (p.Ser27510Ala) c.63613T>G (p.Ser21205Ala) c.63412T>G (p.Ser21138Ala) c.63037T>G (p.Ser21013Ala) c.90232T>G (p.Ser30078Ala) c.85309T>G (p.Ser28437Ala) n.447-18632A>C n.2043+10307A>C c.89329T>G (p.Ser29777Ala) c.63223T>G (p.Ser21075Ala) c.63082T>G (p.Ser21028Ala) c.89125T>G (p.Ser29709Ala) c.84523T>G (p.Ser28175Ala) c.84520T>G (p.Ser28174Ala) c.81562T>G (p.Ser27188Ala) c.63178T>G (p.Ser21060Ala) c.84673T>G (p.Ser28225Ala) c.84670T>G (p.Ser28224Ala) c.84103T>G (p.Ser28035Ala) c.81445T>G (p.Ser27149Ala) c.81364T>G (p.Ser27122Ala) c.63127T>G (p.Ser21043Ala) c.52981T>G (p.Ser17661Ala) | |
2 | g.178552668A>G | CA349512657 | TTN,TTN-AS1 | c.82528T>C (p.Ser27510Pro) c.63613T>C (p.Ser21205Pro) c.63412T>C (p.Ser21138Pro) c.63037T>C (p.Ser21013Pro) c.90232T>C (p.Ser30078Pro) c.85309T>C (p.Ser28437Pro) n.447-18632A>G n.2043+10307A>G c.89329T>C (p.Ser29777Pro) c.63223T>C (p.Ser21075Pro) c.63082T>C (p.Ser21028Pro) c.89125T>C (p.Ser29709Pro) c.84523T>C (p.Ser28175Pro) c.84520T>C (p.Ser28174Pro) c.81562T>C (p.Ser27188Pro) c.63178T>C (p.Ser21060Pro) c.84673T>C (p.Ser28225Pro) c.84670T>C (p.Ser28224Pro) c.84103T>C (p.Ser28035Pro) c.81445T>C (p.Ser27149Pro) c.81364T>C (p.Ser27122Pro) c.63127T>C (p.Ser21043Pro) c.52981T>C (p.Ser17661Pro) | |
2 | g.178552668A>T | CA349512660 | TTN,TTN-AS1 | c.82528T>A (p.Ser27510Thr) c.63613T>A (p.Ser21205Thr) c.63412T>A (p.Ser21138Thr) c.63037T>A (p.Ser21013Thr) c.90232T>A (p.Ser30078Thr) c.85309T>A (p.Ser28437Thr) n.447-18632A>T n.2043+10307A>T c.89329T>A (p.Ser29777Thr) c.63223T>A (p.Ser21075Thr) c.63082T>A (p.Ser21028Thr) c.89125T>A (p.Ser29709Thr) c.84523T>A (p.Ser28175Thr) c.84520T>A (p.Ser28174Thr) c.81562T>A (p.Ser27188Thr) c.63178T>A (p.Ser21060Thr) c.84673T>A (p.Ser28225Thr) c.84670T>A (p.Ser28224Thr) c.84103T>A (p.Ser28035Thr) c.81445T>A (p.Ser27149Thr) c.81364T>A (p.Ser27122Thr) c.63127T>A (p.Ser21043Thr) c.52981T>A (p.Ser17661Thr) | |
2 | g.178552669C>A | CA349512664 | TTN,TTN-AS1 | c.82527G>T (p.Trp27509Cys) c.63612G>T (p.Trp21204Cys) c.63411G>T (p.Trp21137Cys) c.63036G>T (p.Trp21012Cys) c.90231G>T (p.Trp30077Cys) c.85308G>T (p.Trp28436Cys) n.447-18631C>A n.2043+10308C>A c.89328G>T (p.Trp29776Cys) c.63222G>T (p.Trp21074Cys) c.63081G>T (p.Trp21027Cys) c.89124G>T (p.Trp29708Cys) c.84522G>T (p.Trp28174Cys) c.84519G>T (p.Trp28173Cys) c.81561G>T (p.Trp27187Cys) c.63177G>T (p.Trp21059Cys) c.84672G>T (p.Trp28224Cys) c.84669G>T (p.Trp28223Cys) c.84102G>T (p.Trp28034Cys) c.81444G>T (p.Trp27148Cys) c.81363G>T (p.Trp27121Cys) c.63126G>T (p.Trp21042Cys) c.52980G>T (p.Trp17660Cys) | |
2 | g.178552669C>G | CA349512666 | TTN,TTN-AS1 | c.82527G>C (p.Trp27509Cys) c.63612G>C (p.Trp21204Cys) c.63411G>C (p.Trp21137Cys) c.63036G>C (p.Trp21012Cys) c.90231G>C (p.Trp30077Cys) c.85308G>C (p.Trp28436Cys) n.447-18631C>G n.2043+10308C>G c.89328G>C (p.Trp29776Cys) c.63222G>C (p.Trp21074Cys) c.63081G>C (p.Trp21027Cys) c.89124G>C (p.Trp29708Cys) c.84522G>C (p.Trp28174Cys) c.84519G>C (p.Trp28173Cys) c.81561G>C (p.Trp27187Cys) c.63177G>C (p.Trp21059Cys) c.84672G>C (p.Trp28224Cys) c.84669G>C (p.Trp28223Cys) c.84102G>C (p.Trp28034Cys) c.81444G>C (p.Trp27148Cys) c.81363G>C (p.Trp27121Cys) c.63126G>C (p.Trp21042Cys) c.52980G>C (p.Trp17660Cys) | |
2 | g.178552669C>T | CA349512681 | TTN,TTN-AS1 | c.82527G>A (p.Trp27509Ter) c.63612G>A (p.Trp21204Ter) c.63411G>A (p.Trp21137Ter) c.63036G>A (p.Trp21012Ter) c.90231G>A (p.Trp30077Ter) c.85308G>A (p.Trp28436Ter) n.447-18631C>T n.2043+10308C>T c.89328G>A (p.Trp29776Ter) c.63222G>A (p.Trp21074Ter) c.63081G>A (p.Trp21027Ter) c.89124G>A (p.Trp29708Ter) c.84522G>A (p.Trp28174Ter) c.84519G>A (p.Trp28173Ter) c.81561G>A (p.Trp27187Ter) c.63177G>A (p.Trp21059Ter) c.84672G>A (p.Trp28224Ter) c.84669G>A (p.Trp28223Ter) c.84102G>A (p.Trp28034Ter) c.81444G>A (p.Trp27148Ter) c.81363G>A (p.Trp27121Ter) c.63126G>A (p.Trp21042Ter) c.52980G>A (p.Trp17660Ter) | ClinVar dbSNP |
2 | g.178552670C>A | CA349512702 | TTN,TTN-AS1 | c.82526G>T (p.Trp27509Leu) c.63611G>T (p.Trp21204Leu) c.63410G>T (p.Trp21137Leu) c.63035G>T (p.Trp21012Leu) c.90230G>T (p.Trp30077Leu) c.85307G>T (p.Trp28436Leu) n.447-18630C>A n.2043+10309C>A c.89327G>T (p.Trp29776Leu) c.63221G>T (p.Trp21074Leu) c.63080G>T (p.Trp21027Leu) c.89123G>T (p.Trp29708Leu) c.84521G>T (p.Trp28174Leu) c.84518G>T (p.Trp28173Leu) c.81560G>T (p.Trp27187Leu) c.63176G>T (p.Trp21059Leu) c.84671G>T (p.Trp28224Leu) c.84668G>T (p.Trp28223Leu) c.84101G>T (p.Trp28034Leu) c.81443G>T (p.Trp27148Leu) c.81362G>T (p.Trp27121Leu) c.63125G>T (p.Trp21042Leu) c.52979G>T (p.Trp17660Leu) | |
2 | g.178552670C>G | CA349512685 | TTN,TTN-AS1 | c.82526G>C (p.Trp27509Ser) c.63611G>C (p.Trp21204Ser) c.63410G>C (p.Trp21137Ser) c.63035G>C (p.Trp21012Ser) c.90230G>C (p.Trp30077Ser) c.85307G>C (p.Trp28436Ser) n.447-18630C>G n.2043+10309C>G c.89327G>C (p.Trp29776Ser) c.63221G>C (p.Trp21074Ser) c.63080G>C (p.Trp21027Ser) c.89123G>C (p.Trp29708Ser) c.84521G>C (p.Trp28174Ser) c.84518G>C (p.Trp28173Ser) c.81560G>C (p.Trp27187Ser) c.63176G>C (p.Trp21059Ser) c.84671G>C (p.Trp28224Ser) c.84668G>C (p.Trp28223Ser) c.84101G>C (p.Trp28034Ser) c.81443G>C (p.Trp27148Ser) c.81362G>C (p.Trp27121Ser) c.63125G>C (p.Trp21042Ser) c.52979G>C (p.Trp17660Ser) | |
2 | g.178552670C>T | CA349512687 | TTN,TTN-AS1 | c.82526G>A (p.Trp27509Ter) c.63611G>A (p.Trp21204Ter) c.63410G>A (p.Trp21137Ter) c.63035G>A (p.Trp21012Ter) c.90230G>A (p.Trp30077Ter) c.85307G>A (p.Trp28436Ter) n.447-18630C>T n.2043+10309C>T c.89327G>A (p.Trp29776Ter) c.63221G>A (p.Trp21074Ter) c.63080G>A (p.Trp21027Ter) c.89123G>A (p.Trp29708Ter) c.84521G>A (p.Trp28174Ter) c.84518G>A (p.Trp28173Ter) c.81560G>A (p.Trp27187Ter) c.63176G>A (p.Trp21059Ter) c.84671G>A (p.Trp28224Ter) c.84668G>A (p.Trp28223Ter) c.84101G>A (p.Trp28034Ter) c.81443G>A (p.Trp27148Ter) c.81362G>A (p.Trp27121Ter) c.63125G>A (p.Trp21042Ter) c.52979G>A (p.Trp17660Ter) | |
2 | g.178552671A>C | CA349512705 | TTN,TTN-AS1 | c.82525T>G (p.Trp27509Gly) c.63610T>G (p.Trp21204Gly) c.63409T>G (p.Trp21137Gly) c.63034T>G (p.Trp21012Gly) c.90229T>G (p.Trp30077Gly) c.85306T>G (p.Trp28436Gly) n.447-18629A>C n.2043+10310A>C c.89326T>G (p.Trp29776Gly) c.63220T>G (p.Trp21074Gly) c.63079T>G (p.Trp21027Gly) c.89122T>G (p.Trp29708Gly) c.84520T>G (p.Trp28174Gly) c.84517T>G (p.Trp28173Gly) c.81559T>G (p.Trp27187Gly) c.63175T>G (p.Trp21059Gly) c.84670T>G (p.Trp28224Gly) c.84667T>G (p.Trp28223Gly) c.84100T>G (p.Trp28034Gly) c.81442T>G (p.Trp27148Gly) c.81361T>G (p.Trp27121Gly) c.63124T>G (p.Trp21042Gly) c.52978T>G (p.Trp17660Gly) | |
2 | g.178552671A>G | CA349512707 | TTN,TTN-AS1 | c.82525T>C (p.Trp27509Arg) c.63610T>C (p.Trp21204Arg) c.63409T>C (p.Trp21137Arg) c.63034T>C (p.Trp21012Arg) c.90229T>C (p.Trp30077Arg) c.85306T>C (p.Trp28436Arg) n.447-18629A>G n.2043+10310A>G c.89326T>C (p.Trp29776Arg) c.63220T>C (p.Trp21074Arg) c.63079T>C (p.Trp21027Arg) c.89122T>C (p.Trp29708Arg) c.84520T>C (p.Trp28174Arg) c.84517T>C (p.Trp28173Arg) c.81559T>C (p.Trp27187Arg) c.63175T>C (p.Trp21059Arg) c.84670T>C (p.Trp28224Arg) c.84667T>C (p.Trp28223Arg) c.84100T>C (p.Trp28034Arg) c.81442T>C (p.Trp27148Arg) c.81361T>C (p.Trp27121Arg) c.63124T>C (p.Trp21042Arg) c.52978T>C (p.Trp17660Arg) | |
2 | g.178552671A>T | CA349512709 | TTN,TTN-AS1 | c.82525T>A (p.Trp27509Arg) c.63610T>A (p.Trp21204Arg) c.63409T>A (p.Trp21137Arg) c.63034T>A (p.Trp21012Arg) c.90229T>A (p.Trp30077Arg) c.85306T>A (p.Trp28436Arg) n.447-18629A>T n.2043+10310A>T c.89326T>A (p.Trp29776Arg) c.63220T>A (p.Trp21074Arg) c.63079T>A (p.Trp21027Arg) c.89122T>A (p.Trp29708Arg) c.84520T>A (p.Trp28174Arg) c.84517T>A (p.Trp28173Arg) c.81559T>A (p.Trp27187Arg) c.63175T>A (p.Trp21059Arg) c.84670T>A (p.Trp28224Arg) c.84667T>A (p.Trp28223Arg) c.84100T>A (p.Trp28034Arg) c.81442T>A (p.Trp27148Arg) c.81361T>A (p.Trp27121Arg) c.63124T>A (p.Trp21042Arg) c.52978T>A (p.Trp17660Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178552672C>A | CA430245614 | TTN,TTN-AS1 | c.82524G>T (p.Thr27508=) c.63609G>T (p.Thr21203=) c.63408G>T (p.Thr21136=) c.63033G>T (p.Thr21011=) c.90228G>T (p.Thr30076=) c.85305G>T (p.Thr28435=) n.447-18628C>A n.2043+10311C>A c.89325G>T (p.Thr29775=) c.63219G>T (p.Thr21073=) c.63078G>T (p.Thr21026=) c.89121G>T (p.Thr29707=) c.84519G>T (p.Thr28173=) c.84516G>T (p.Thr28172=) c.81558G>T (p.Thr27186=) c.63174G>T (p.Thr21058=) c.84669G>T (p.Thr28223=) c.84666G>T (p.Thr28222=) c.84099G>T (p.Thr28033=) c.81441G>T (p.Thr27147=) c.81360G>T (p.Thr27120=) c.63123G>T (p.Thr21041=) c.52977G>T (p.Thr17659=) | gnomAD v4 |
2 | g.178552672C= | CA1310522189 | TTN,TTN-AS1 | c.82524G= (p.Thr27508=) c.63609G= (p.Thr21203=) c.63408G= (p.Thr21136=) c.63033G= (p.Thr21011=) c.90228G= (p.Thr30076=) c.85305G= (p.Thr28435=) n.447-18628C= n.2043+10311C= c.89325G= (p.Thr29775=) c.63219G= (p.Thr21073=) c.63078G= (p.Thr21026=) c.89121G= (p.Thr29707=) c.84519G= (p.Thr28173=) c.84516G= (p.Thr28172=) c.81558G= (p.Thr27186=) c.63174G= (p.Thr21058=) c.84669G= (p.Thr28223=) c.84666G= (p.Thr28222=) c.84099G= (p.Thr28033=) c.81441G= (p.Thr27147=) c.81360G= (p.Thr27120=) c.63123G= (p.Thr21041=) c.52977G= (p.Thr17659=) | |
2 | g.178552672C>G | CA430245616 | TTN,TTN-AS1 | c.82524G>C (p.Thr27508=) c.63609G>C (p.Thr21203=) c.63408G>C (p.Thr21136=) c.63033G>C (p.Thr21011=) c.90228G>C (p.Thr30076=) c.85305G>C (p.Thr28435=) n.447-18628C>G n.2043+10311C>G c.89325G>C (p.Thr29775=) c.63219G>C (p.Thr21073=) c.63078G>C (p.Thr21026=) c.89121G>C (p.Thr29707=) c.84519G>C (p.Thr28173=) c.84516G>C (p.Thr28172=) c.81558G>C (p.Thr27186=) c.63174G>C (p.Thr21058=) c.84669G>C (p.Thr28223=) c.84666G>C (p.Thr28222=) c.84099G>C (p.Thr28033=) c.81441G>C (p.Thr27147=) c.81360G>C (p.Thr27120=) c.63123G>C (p.Thr21041=) c.52977G>C (p.Thr17659=) | |
2 | g.178552672C>T | CA1987816 | TTN,TTN-AS1 | c.82524G>A (p.Thr27508=) c.63609G>A (p.Thr21203=) c.63408G>A (p.Thr21136=) c.63033G>A (p.Thr21011=) c.90228G>A (p.Thr30076=) c.85305G>A (p.Thr28435=) n.447-18628C>T n.2043+10311C>T c.89325G>A (p.Thr29775=) c.63219G>A (p.Thr21073=) c.63078G>A (p.Thr21026=) c.89121G>A (p.Thr29707=) c.84519G>A (p.Thr28173=) c.84516G>A (p.Thr28172=) c.81558G>A (p.Thr27186=) c.63174G>A (p.Thr21058=) c.84669G>A (p.Thr28223=) c.84666G>A (p.Thr28222=) c.84099G>A (p.Thr28033=) c.81441G>A (p.Thr27147=) c.81360G>A (p.Thr27120=) c.63123G>A (p.Thr21041=) c.52977G>A (p.Thr17659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178552673G>A | CA181638 | TTN,TTN-AS1 | c.82523C>T (p.Thr27508Met) c.63608C>T (p.Thr21203Met) c.63407C>T (p.Thr21136Met) c.63032C>T (p.Thr21011Met) c.90227C>T (p.Thr30076Met) c.85304C>T (p.Thr28435Met) n.447-18627G>A n.2043+10312G>A c.89324C>T (p.Thr29775Met) c.63218C>T (p.Thr21073Met) c.63077C>T (p.Thr21026Met) c.89120C>T (p.Thr29707Met) c.84518C>T (p.Thr28173Met) c.84515C>T (p.Thr28172Met) c.81557C>T (p.Thr27186Met) c.63173C>T (p.Thr21058Met) c.84668C>T (p.Thr28223Met) c.84665C>T (p.Thr28222Met) c.84098C>T (p.Thr28033Met) c.81440C>T (p.Thr27147Met) c.81359C>T (p.Thr27120Met) c.63122C>T (p.Thr21041Met) c.52976C>T (p.Thr17659Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178552673G>C | CA349512721 | TTN,TTN-AS1 | c.82523C>G (p.Thr27508Arg) c.63608C>G (p.Thr21203Arg) c.63407C>G (p.Thr21136Arg) c.63032C>G (p.Thr21011Arg) c.90227C>G (p.Thr30076Arg) c.85304C>G (p.Thr28435Arg) n.447-18627G>C n.2043+10312G>C c.89324C>G (p.Thr29775Arg) c.63218C>G (p.Thr21073Arg) c.63077C>G (p.Thr21026Arg) c.89120C>G (p.Thr29707Arg) c.84518C>G (p.Thr28173Arg) c.84515C>G (p.Thr28172Arg) c.81557C>G (p.Thr27186Arg) c.63173C>G (p.Thr21058Arg) c.84668C>G (p.Thr28223Arg) c.84665C>G (p.Thr28222Arg) c.84098C>G (p.Thr28033Arg) c.81440C>G (p.Thr27147Arg) c.81359C>G (p.Thr27120Arg) c.63122C>G (p.Thr21041Arg) c.52976C>G (p.Thr17659Arg) | |
2 | g.178552673G= | CA1310522191 | TTN,TTN-AS1 | c.82523C= (p.Thr27508=) c.63608C= (p.Thr21203=) c.63407C= (p.Thr21136=) c.63032C= (p.Thr21011=) c.90227C= (p.Thr30076=) c.85304C= (p.Thr28435=) n.447-18627G= n.2043+10312G= c.89324C= (p.Thr29775=) c.63218C= (p.Thr21073=) c.63077C= (p.Thr21026=) c.89120C= (p.Thr29707=) c.84518C= (p.Thr28173=) c.84515C= (p.Thr28172=) c.81557C= (p.Thr27186=) c.63173C= (p.Thr21058=) c.84668C= (p.Thr28223=) c.84665C= (p.Thr28222=) c.84098C= (p.Thr28033=) c.81440C= (p.Thr27147=) c.81359C= (p.Thr27120=) c.63122C= (p.Thr21041=) c.52976C= (p.Thr17659=) | |
2 | g.178552673G>T | CA349512733 | TTN,TTN-AS1 | c.82523C>A (p.Thr27508Lys) c.63608C>A (p.Thr21203Lys) c.63407C>A (p.Thr21136Lys) c.63032C>A (p.Thr21011Lys) c.90227C>A (p.Thr30076Lys) c.85304C>A (p.Thr28435Lys) n.447-18627G>T n.2043+10312G>T c.89324C>A (p.Thr29775Lys) c.63218C>A (p.Thr21073Lys) c.63077C>A (p.Thr21026Lys) c.89120C>A (p.Thr29707Lys) c.84518C>A (p.Thr28173Lys) c.84515C>A (p.Thr28172Lys) c.81557C>A (p.Thr27186Lys) c.63173C>A (p.Thr21058Lys) c.84668C>A (p.Thr28223Lys) c.84665C>A (p.Thr28222Lys) c.84098C>A (p.Thr28033Lys) c.81440C>A (p.Thr27147Lys) c.81359C>A (p.Thr27120Lys) c.63122C>A (p.Thr21041Lys) c.52976C>A (p.Thr17659Lys) | |
2 | g.178552674T>A | CA349512744 | TTN,TTN-AS1 | c.82522A>T (p.Thr27508Ser) c.63607A>T (p.Thr21203Ser) c.63406A>T (p.Thr21136Ser) c.63031A>T (p.Thr21011Ser) c.90226A>T (p.Thr30076Ser) c.85303A>T (p.Thr28435Ser) n.447-18626T>A n.2043+10313T>A c.89323A>T (p.Thr29775Ser) c.63217A>T (p.Thr21073Ser) c.63076A>T (p.Thr21026Ser) c.89119A>T (p.Thr29707Ser) c.84517A>T (p.Thr28173Ser) c.84514A>T (p.Thr28172Ser) c.81556A>T (p.Thr27186Ser) c.63172A>T (p.Thr21058Ser) c.84667A>T (p.Thr28223Ser) c.84664A>T (p.Thr28222Ser) c.84097A>T (p.Thr28033Ser) c.81439A>T (p.Thr27147Ser) c.81358A>T (p.Thr27120Ser) c.63121A>T (p.Thr21041Ser) c.52975A>T (p.Thr17659Ser) | |
2 | g.178552674T>C | CA349512750 | TTN,TTN-AS1 | c.82522A>G (p.Thr27508Ala) c.63607A>G (p.Thr21203Ala) c.63406A>G (p.Thr21136Ala) c.63031A>G (p.Thr21011Ala) c.90226A>G (p.Thr30076Ala) c.85303A>G (p.Thr28435Ala) n.447-18626T>C n.2043+10313T>C c.89323A>G (p.Thr29775Ala) c.63217A>G (p.Thr21073Ala) c.63076A>G (p.Thr21026Ala) c.89119A>G (p.Thr29707Ala) c.84517A>G (p.Thr28173Ala) c.84514A>G (p.Thr28172Ala) c.81556A>G (p.Thr27186Ala) c.63172A>G (p.Thr21058Ala) c.84667A>G (p.Thr28223Ala) c.84664A>G (p.Thr28222Ala) c.84097A>G (p.Thr28033Ala) c.81439A>G (p.Thr27147Ala) c.81358A>G (p.Thr27120Ala) c.63121A>G (p.Thr21041Ala) c.52975A>G (p.Thr17659Ala) | |
2 | g.178552674T>G | CA349512755 | TTN,TTN-AS1 | c.82522A>C (p.Thr27508Pro) c.63607A>C (p.Thr21203Pro) c.63406A>C (p.Thr21136Pro) c.63031A>C (p.Thr21011Pro) c.90226A>C (p.Thr30076Pro) c.85303A>C (p.Thr28435Pro) n.447-18626T>G n.2043+10313T>G c.89323A>C (p.Thr29775Pro) c.63217A>C (p.Thr21073Pro) c.63076A>C (p.Thr21026Pro) c.89119A>C (p.Thr29707Pro) c.84517A>C (p.Thr28173Pro) c.84514A>C (p.Thr28172Pro) c.81556A>C (p.Thr27186Pro) c.63172A>C (p.Thr21058Pro) c.84667A>C (p.Thr28223Pro) c.84664A>C (p.Thr28222Pro) c.84097A>C (p.Thr28033Pro) c.81439A>C (p.Thr27147Pro) c.81358A>C (p.Thr27120Pro) c.63121A>C (p.Thr21041Pro) c.52975A>C (p.Thr17659Pro) | |
2 | g.178552675C>A | CA349512757 | TTN,TTN-AS1 | c.82521G>T (p.Gln27507His) c.63606G>T (p.Gln21202His) c.63405G>T (p.Gln21135His) c.63030G>T (p.Gln21010His) c.90225G>T (p.Gln30075His) c.85302G>T (p.Gln28434His) n.447-18625C>A n.2043+10314C>A c.89322G>T (p.Gln29774His) c.63216G>T (p.Gln21072His) c.63075G>T (p.Gln21025His) c.89118G>T (p.Gln29706His) c.84516G>T (p.Gln28172His) c.84513G>T (p.Gln28171His) c.81555G>T (p.Gln27185His) c.63171G>T (p.Gln21057His) c.84666G>T (p.Gln28222His) c.84663G>T (p.Gln28221His) c.84096G>T (p.Gln28032His) c.81438G>T (p.Gln27146His) c.81357G>T (p.Gln27119His) c.63120G>T (p.Gln21040His) c.52974G>T (p.Gln17658His) | |
2 | g.178552675C>G | CA349512759 | TTN,TTN-AS1 | c.82521G>C (p.Gln27507His) c.63606G>C (p.Gln21202His) c.63405G>C (p.Gln21135His) c.63030G>C (p.Gln21010His) c.90225G>C (p.Gln30075His) c.85302G>C (p.Gln28434His) n.447-18625C>G n.2043+10314C>G c.89322G>C (p.Gln29774His) c.63216G>C (p.Gln21072His) c.63075G>C (p.Gln21025His) c.89118G>C (p.Gln29706His) c.84516G>C (p.Gln28172His) c.84513G>C (p.Gln28171His) c.81555G>C (p.Gln27185His) c.63171G>C (p.Gln21057His) c.84666G>C (p.Gln28222His) c.84663G>C (p.Gln28221His) c.84096G>C (p.Gln28032His) c.81438G>C (p.Gln27146His) c.81357G>C (p.Gln27119His) c.63120G>C (p.Gln21040His) c.52974G>C (p.Gln17658His) | |
2 | g.178552675C>T | CA430245621 | TTN,TTN-AS1 | c.82521G>A (p.Gln27507=) c.63606G>A (p.Gln21202=) c.63405G>A (p.Gln21135=) c.63030G>A (p.Gln21010=) c.90225G>A (p.Gln30075=) c.85302G>A (p.Gln28434=) n.447-18625C>T n.2043+10314C>T c.89322G>A (p.Gln29774=) c.63216G>A (p.Gln21072=) c.63075G>A (p.Gln21025=) c.89118G>A (p.Gln29706=) c.84516G>A (p.Gln28172=) c.84513G>A (p.Gln28171=) c.81555G>A (p.Gln27185=) c.63171G>A (p.Gln21057=) c.84666G>A (p.Gln28222=) c.84663G>A (p.Gln28221=) c.84096G>A (p.Gln28032=) c.81438G>A (p.Gln27146=) c.81357G>A (p.Gln27119=) c.63120G>A (p.Gln21040=) c.52974G>A (p.Gln17658=) | |
2 | g.178552676T>A | CA349512769 | TTN,TTN-AS1 | c.82520A>T (p.Gln27507Leu) c.63605A>T (p.Gln21202Leu) c.63404A>T (p.Gln21135Leu) c.63029A>T (p.Gln21010Leu) c.90224A>T (p.Gln30075Leu) c.85301A>T (p.Gln28434Leu) n.447-18624T>A n.2043+10315T>A c.89321A>T (p.Gln29774Leu) c.63215A>T (p.Gln21072Leu) c.63074A>T (p.Gln21025Leu) c.89117A>T (p.Gln29706Leu) c.84515A>T (p.Gln28172Leu) c.84512A>T (p.Gln28171Leu) c.81554A>T (p.Gln27185Leu) c.63170A>T (p.Gln21057Leu) c.84665A>T (p.Gln28222Leu) c.84662A>T (p.Gln28221Leu) c.84095A>T (p.Gln28032Leu) c.81437A>T (p.Gln27146Leu) c.81356A>T (p.Gln27119Leu) c.63119A>T (p.Gln21040Leu) c.52973A>T (p.Gln17658Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178552676T>C | CA349512767 | TTN,TTN-AS1 | c.82520A>G (p.Gln27507Arg) c.63605A>G (p.Gln21202Arg) c.63404A>G (p.Gln21135Arg) c.63029A>G (p.Gln21010Arg) c.90224A>G (p.Gln30075Arg) c.85301A>G (p.Gln28434Arg) n.447-18624T>C n.2043+10315T>C c.89321A>G (p.Gln29774Arg) c.63215A>G (p.Gln21072Arg) c.63074A>G (p.Gln21025Arg) c.89117A>G (p.Gln29706Arg) c.84515A>G (p.Gln28172Arg) c.84512A>G (p.Gln28171Arg) c.81554A>G (p.Gln27185Arg) c.63170A>G (p.Gln21057Arg) c.84665A>G (p.Gln28222Arg) c.84662A>G (p.Gln28221Arg) c.84095A>G (p.Gln28032Arg) c.81437A>G (p.Gln27146Arg) c.81356A>G (p.Gln27119Arg) c.63119A>G (p.Gln21040Arg) c.52973A>G (p.Gln17658Arg) | |
2 | g.178552676T>G | CA349512764 | TTN,TTN-AS1 | c.82520A>C (p.Gln27507Pro) c.63605A>C (p.Gln21202Pro) c.63404A>C (p.Gln21135Pro) c.63029A>C (p.Gln21010Pro) c.90224A>C (p.Gln30075Pro) c.85301A>C (p.Gln28434Pro) n.447-18624T>G n.2043+10315T>G c.89321A>C (p.Gln29774Pro) c.63215A>C (p.Gln21072Pro) c.63074A>C (p.Gln21025Pro) c.89117A>C (p.Gln29706Pro) c.84515A>C (p.Gln28172Pro) c.84512A>C (p.Gln28171Pro) c.81554A>C (p.Gln27185Pro) c.63170A>C (p.Gln21057Pro) c.84665A>C (p.Gln28222Pro) c.84662A>C (p.Gln28221Pro) c.84095A>C (p.Gln28032Pro) c.81437A>C (p.Gln27146Pro) c.81356A>C (p.Gln27119Pro) c.63119A>C (p.Gln21040Pro) c.52973A>C (p.Gln17658Pro) | |
2 | g.178552676T= | CA1310522194 | TTN,TTN-AS1 | c.82520A= (p.Gln27507=) c.63605A= (p.Gln21202=) c.63404A= (p.Gln21135=) c.63029A= (p.Gln21010=) c.90224A= (p.Gln30075=) c.85301A= (p.Gln28434=) n.447-18624T= n.2043+10315T= c.89321A= (p.Gln29774=) c.63215A= (p.Gln21072=) c.63074A= (p.Gln21025=) c.89117A= (p.Gln29706=) c.84515A= (p.Gln28172=) c.84512A= (p.Gln28171=) c.81554A= (p.Gln27185=) c.63170A= (p.Gln21057=) c.84665A= (p.Gln28222=) c.84662A= (p.Gln28221=) c.84095A= (p.Gln28032=) c.81437A= (p.Gln27146=) c.81356A= (p.Gln27119=) c.63119A= (p.Gln21040=) c.52973A= (p.Gln17658=) | |
2 | g.178552677G>A | CA236082 | TTN,TTN-AS1 | c.82519C>T (p.Gln27507Ter) c.63604C>T (p.Gln21202Ter) c.63403C>T (p.Gln21135Ter) c.63028C>T (p.Gln21010Ter) c.90223C>T (p.Gln30075Ter) c.85300C>T (p.Gln28434Ter) n.447-18623G>A n.2043+10316G>A c.89320C>T (p.Gln29774Ter) c.63214C>T (p.Gln21072Ter) c.63073C>T (p.Gln21025Ter) c.89116C>T (p.Gln29706Ter) c.84514C>T (p.Gln28172Ter) c.84511C>T (p.Gln28171Ter) c.81553C>T (p.Gln27185Ter) c.63169C>T (p.Gln21057Ter) c.84664C>T (p.Gln28222Ter) c.84661C>T (p.Gln28221Ter) c.84094C>T (p.Gln28032Ter) c.81436C>T (p.Gln27146Ter) c.81355C>T (p.Gln27119Ter) c.63118C>T (p.Gln21040Ter) c.52972C>T (p.Gln17658Ter) | ClinVar dbSNP |
2 | g.178552677G>C | CA349512774 | TTN,TTN-AS1 | c.82519C>G (p.Gln27507Glu) c.63604C>G (p.Gln21202Glu) c.63403C>G (p.Gln21135Glu) c.63028C>G (p.Gln21010Glu) c.90223C>G (p.Gln30075Glu) c.85300C>G (p.Gln28434Glu) n.447-18623G>C n.2043+10316G>C c.89320C>G (p.Gln29774Glu) c.63214C>G (p.Gln21072Glu) c.63073C>G (p.Gln21025Glu) c.89116C>G (p.Gln29706Glu) c.84514C>G (p.Gln28172Glu) c.84511C>G (p.Gln28171Glu) c.81553C>G (p.Gln27185Glu) c.63169C>G (p.Gln21057Glu) c.84664C>G (p.Gln28222Glu) c.84661C>G (p.Gln28221Glu) c.84094C>G (p.Gln28032Glu) c.81436C>G (p.Gln27146Glu) c.81355C>G (p.Gln27119Glu) c.63118C>G (p.Gln21040Glu) c.52972C>G (p.Gln17658Glu) | |
2 | g.178552677G= | CA1310522195 | TTN,TTN-AS1 | c.82519C= (p.Gln27507=) c.63604C= (p.Gln21202=) c.63403C= (p.Gln21135=) c.63028C= (p.Gln21010=) c.90223C= (p.Gln30075=) c.85300C= (p.Gln28434=) n.447-18623G= n.2043+10316G= c.89320C= (p.Gln29774=) c.63214C= (p.Gln21072=) c.63073C= (p.Gln21025=) c.89116C= (p.Gln29706=) c.84514C= (p.Gln28172=) c.84511C= (p.Gln28171=) c.81553C= (p.Gln27185=) c.63169C= (p.Gln21057=) c.84664C= (p.Gln28222=) c.84661C= (p.Gln28221=) c.84094C= (p.Gln28032=) c.81436C= (p.Gln27146=) c.81355C= (p.Gln27119=) c.63118C= (p.Gln21040=) c.52972C= (p.Gln17658=) | |
2 | g.178552677G>T | CA349512783 | TTN,TTN-AS1 | c.82519C>A (p.Gln27507Lys) c.63604C>A (p.Gln21202Lys) c.63403C>A (p.Gln21135Lys) c.63028C>A (p.Gln21010Lys) c.90223C>A (p.Gln30075Lys) c.85300C>A (p.Gln28434Lys) n.447-18623G>T n.2043+10316G>T c.89320C>A (p.Gln29774Lys) c.63214C>A (p.Gln21072Lys) c.63073C>A (p.Gln21025Lys) c.89116C>A (p.Gln29706Lys) c.84514C>A (p.Gln28172Lys) c.84511C>A (p.Gln28171Lys) c.81553C>A (p.Gln27185Lys) c.63169C>A (p.Gln21057Lys) c.84664C>A (p.Gln28222Lys) c.84661C>A (p.Gln28221Lys) c.84094C>A (p.Gln28032Lys) c.81436C>A (p.Gln27146Lys) c.81355C>A (p.Gln27119Lys) c.63118C>A (p.Gln21040Lys) c.52972C>A (p.Gln17658Lys) | |
2 | g.178552678T>A | CA349512811 | TTN,TTN-AS1 | c.82518A>T (p.Glu27506Asp) c.63603A>T (p.Glu21201Asp) c.63402A>T (p.Glu21134Asp) c.63027A>T (p.Glu21009Asp) c.90222A>T (p.Glu30074Asp) c.85299A>T (p.Glu28433Asp) n.447-18622T>A n.2043+10317T>A c.89319A>T (p.Glu29773Asp) c.63213A>T (p.Glu21071Asp) c.63072A>T (p.Glu21024Asp) c.89115A>T (p.Glu29705Asp) c.84513A>T (p.Glu28171Asp) c.84510A>T (p.Glu28170Asp) c.81552A>T (p.Glu27184Asp) c.63168A>T (p.Glu21056Asp) c.84663A>T (p.Glu28221Asp) c.84660A>T (p.Glu28220Asp) c.84093A>T (p.Glu28031Asp) c.81435A>T (p.Glu27145Asp) c.81354A>T (p.Glu27118Asp) c.63117A>T (p.Glu21039Asp) c.52971A>T (p.Glu17657Asp) | |
2 | g.178552678T>C | CA430245628 | TTN,TTN-AS1 | c.82518A>G (p.Glu27506=) c.63603A>G (p.Glu21201=) c.63402A>G (p.Glu21134=) c.63027A>G (p.Glu21009=) c.90222A>G (p.Glu30074=) c.85299A>G (p.Glu28433=) n.447-18622T>C n.2043+10317T>C c.89319A>G (p.Glu29773=) c.63213A>G (p.Glu21071=) c.63072A>G (p.Glu21024=) c.89115A>G (p.Glu29705=) c.84513A>G (p.Glu28171=) c.84510A>G (p.Glu28170=) c.81552A>G (p.Glu27184=) c.63168A>G (p.Glu21056=) c.84663A>G (p.Glu28221=) c.84660A>G (p.Glu28220=) c.84093A>G (p.Glu28031=) c.81435A>G (p.Glu27145=) c.81354A>G (p.Glu27118=) c.63117A>G (p.Glu21039=) c.52971A>G (p.Glu17657=) | dbSNP gnomAD v4 |
2 | g.178552678T>G | CA349512816 | TTN,TTN-AS1 | c.82518A>C (p.Glu27506Asp) c.63603A>C (p.Glu21201Asp) c.63402A>C (p.Glu21134Asp) c.63027A>C (p.Glu21009Asp) c.90222A>C (p.Glu30074Asp) c.85299A>C (p.Glu28433Asp) n.447-18622T>G n.2043+10317T>G c.89319A>C (p.Glu29773Asp) c.63213A>C (p.Glu21071Asp) c.63072A>C (p.Glu21024Asp) c.89115A>C (p.Glu29705Asp) c.84513A>C (p.Glu28171Asp) c.84510A>C (p.Glu28170Asp) c.81552A>C (p.Glu27184Asp) c.63168A>C (p.Glu21056Asp) c.84663A>C (p.Glu28221Asp) c.84660A>C (p.Glu28220Asp) c.84093A>C (p.Glu28031Asp) c.81435A>C (p.Glu27145Asp) c.81354A>C (p.Glu27118Asp) c.63117A>C (p.Glu21039Asp) c.52971A>C (p.Glu17657Asp) | |
2 | g.178552678T= | CA1310522197 | TTN,TTN-AS1 | c.82518A= (p.Glu27506=) c.63603A= (p.Glu21201=) c.63402A= (p.Glu21134=) c.63027A= (p.Glu21009=) c.90222A= (p.Glu30074=) c.85299A= (p.Glu28433=) n.447-18622T= n.2043+10317T= c.89319A= (p.Glu29773=) c.63213A= (p.Glu21071=) c.63072A= (p.Glu21024=) c.89115A= (p.Glu29705=) c.84513A= (p.Glu28171=) c.84510A= (p.Glu28170=) c.81552A= (p.Glu27184=) c.63168A= (p.Glu21056=) c.84663A= (p.Glu28221=) c.84660A= (p.Glu28220=) c.84093A= (p.Glu28031=) c.81435A= (p.Glu27145=) c.81354A= (p.Glu27118=) c.63117A= (p.Glu21039=) c.52971A= (p.Glu17657=) | |
2 | g.178552679T>A | CA349512820 | TTN,TTN-AS1 | c.82517A>T (p.Glu27506Val) c.63602A>T (p.Glu21201Val) c.63401A>T (p.Glu21134Val) c.63026A>T (p.Glu21009Val) c.90221A>T (p.Glu30074Val) c.85298A>T (p.Glu28433Val) n.447-18621T>A n.2043+10318T>A c.89318A>T (p.Glu29773Val) c.63212A>T (p.Glu21071Val) c.63071A>T (p.Glu21024Val) c.89114A>T (p.Glu29705Val) c.84512A>T (p.Glu28171Val) c.84509A>T (p.Glu28170Val) c.81551A>T (p.Glu27184Val) c.63167A>T (p.Glu21056Val) c.84662A>T (p.Glu28221Val) c.84659A>T (p.Glu28220Val) c.84092A>T (p.Glu28031Val) c.81434A>T (p.Glu27145Val) c.81353A>T (p.Glu27118Val) c.63116A>T (p.Glu21039Val) c.52970A>T (p.Glu17657Val) | |
2 | g.178552679T>C | CA349512822 | TTN,TTN-AS1 | c.82517A>G (p.Glu27506Gly) c.63602A>G (p.Glu21201Gly) c.63401A>G (p.Glu21134Gly) c.63026A>G (p.Glu21009Gly) c.90221A>G (p.Glu30074Gly) c.85298A>G (p.Glu28433Gly) n.447-18621T>C n.2043+10318T>C c.89318A>G (p.Glu29773Gly) c.63212A>G (p.Glu21071Gly) c.63071A>G (p.Glu21024Gly) c.89114A>G (p.Glu29705Gly) c.84512A>G (p.Glu28171Gly) c.84509A>G (p.Glu28170Gly) c.81551A>G (p.Glu27184Gly) c.63167A>G (p.Glu21056Gly) c.84662A>G (p.Glu28221Gly) c.84659A>G (p.Glu28220Gly) c.84092A>G (p.Glu28031Gly) c.81434A>G (p.Glu27145Gly) c.81353A>G (p.Glu27118Gly) c.63116A>G (p.Glu21039Gly) c.52970A>G (p.Glu17657Gly) | |
2 | g.178552679T>G | CA349512828 | TTN,TTN-AS1 | c.82517A>C (p.Glu27506Ala) c.63602A>C (p.Glu21201Ala) c.63401A>C (p.Glu21134Ala) c.63026A>C (p.Glu21009Ala) c.90221A>C (p.Glu30074Ala) c.85298A>C (p.Glu28433Ala) n.447-18621T>G n.2043+10318T>G c.89318A>C (p.Glu29773Ala) c.63212A>C (p.Glu21071Ala) c.63071A>C (p.Glu21024Ala) c.89114A>C (p.Glu29705Ala) c.84512A>C (p.Glu28171Ala) c.84509A>C (p.Glu28170Ala) c.81551A>C (p.Glu27184Ala) c.63167A>C (p.Glu21056Ala) c.84662A>C (p.Glu28221Ala) c.84659A>C (p.Glu28220Ala) c.84092A>C (p.Glu28031Ala) c.81434A>C (p.Glu27145Ala) c.81353A>C (p.Glu27118Ala) c.63116A>C (p.Glu21039Ala) c.52970A>C (p.Glu17657Ala) | |
2 | g.178552680C>A | CA349512830 | TTN,TTN-AS1 | c.82516G>T (p.Glu27506Ter) c.63601G>T (p.Glu21201Ter) c.63400G>T (p.Glu21134Ter) c.63025G>T (p.Glu21009Ter) c.90220G>T (p.Glu30074Ter) c.85297G>T (p.Glu28433Ter) n.447-18620C>A n.2043+10319C>A c.89317G>T (p.Glu29773Ter) c.63211G>T (p.Glu21071Ter) c.63070G>T (p.Glu21024Ter) c.89113G>T (p.Glu29705Ter) c.84511G>T (p.Glu28171Ter) c.84508G>T (p.Glu28170Ter) c.81550G>T (p.Glu27184Ter) c.63166G>T (p.Glu21056Ter) c.84661G>T (p.Glu28221Ter) c.84658G>T (p.Glu28220Ter) c.84091G>T (p.Glu28031Ter) c.81433G>T (p.Glu27145Ter) c.81352G>T (p.Glu27118Ter) c.63115G>T (p.Glu21039Ter) c.52969G>T (p.Glu17657Ter) | |
2 | g.178552680C>G | CA349512833 | TTN,TTN-AS1 | c.82516G>C (p.Glu27506Gln) c.63601G>C (p.Glu21201Gln) c.63400G>C (p.Glu21134Gln) c.63025G>C (p.Glu21009Gln) c.90220G>C (p.Glu30074Gln) c.85297G>C (p.Glu28433Gln) n.447-18620C>G n.2043+10319C>G c.89317G>C (p.Glu29773Gln) c.63211G>C (p.Glu21071Gln) c.63070G>C (p.Glu21024Gln) c.89113G>C (p.Glu29705Gln) c.84511G>C (p.Glu28171Gln) c.84508G>C (p.Glu28170Gln) c.81550G>C (p.Glu27184Gln) c.63166G>C (p.Glu21056Gln) c.84661G>C (p.Glu28221Gln) c.84658G>C (p.Glu28220Gln) c.84091G>C (p.Glu28031Gln) c.81433G>C (p.Glu27145Gln) c.81352G>C (p.Glu27118Gln) c.63115G>C (p.Glu21039Gln) c.52969G>C (p.Glu17657Gln) | |
2 | g.178552680C>T | CA349512834 | TTN,TTN-AS1 | c.82516G>A (p.Glu27506Lys) c.63601G>A (p.Glu21201Lys) c.63400G>A (p.Glu21134Lys) c.63025G>A (p.Glu21009Lys) c.90220G>A (p.Glu30074Lys) c.85297G>A (p.Glu28433Lys) n.447-18620C>T n.2043+10319C>T c.89317G>A (p.Glu29773Lys) c.63211G>A (p.Glu21071Lys) c.63070G>A (p.Glu21024Lys) c.89113G>A (p.Glu29705Lys) c.84511G>A (p.Glu28171Lys) c.84508G>A (p.Glu28170Lys) c.81550G>A (p.Glu27184Lys) c.63166G>A (p.Glu21056Lys) c.84661G>A (p.Glu28221Lys) c.84658G>A (p.Glu28220Lys) c.84091G>A (p.Glu28031Lys) c.81433G>A (p.Glu27145Lys) c.81352G>A (p.Glu27118Lys) c.63115G>A (p.Glu21039Lys) c.52969G>A (p.Glu17657Lys) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178552680_178552686delinsCACCTTT | CA1310522199 | TTN,TTN-AS1 | c.82510_82516delinsAAAGGTG (p.Lys27504=) c.63595_63601delinsAAAGGTG (p.Lys21199=) c.63394_63400delinsAAAGGTG (p.Lys21132=) c.63019_63025delinsAAAGGTG (p.Lys21007=) c.90214_90220delinsAAAGGTG (p.Lys30072=) c.85291_85297delinsAAAGGTG (p.Lys28431=) n.447-18620_447-18614delinsCACCTTT n.2043+10319_2043+10325delinsCACCTTT c.89311_89317delinsAAAGGTG (p.Lys29771=) c.63205_63211delinsAAAGGTG (p.Lys21069=) c.63064_63070delinsAAAGGTG (p.Lys21022=) c.89107_89113delinsAAAGGTG (p.Lys29703=) c.84505_84511delinsAAAGGTG (p.Lys28169=) c.84502_84508delinsAAAGGTG (p.Lys28168=) c.81544_81550delinsAAAGGTG (p.Lys27182=) c.63160_63166delinsAAAGGTG (p.Lys21054=) c.84655_84661delinsAAAGGTG (p.Lys28219=) c.84652_84658delinsAAAGGTG (p.Lys28218=) c.84085_84091delinsAAAGGTG (p.Lys28029=) c.81427_81433delinsAAAGGTG (p.Lys27143=) c.81346_81352delinsAAAGGTG (p.Lys27116=) c.63109_63115delinsAAAGGTG (p.Lys21037=) c.52963_52969delinsAAAGGTG (p.Lys17655=) | |
2 | g.178552681A>C | CA430245632 | TTN,TTN-AS1 | c.82515T>G (p.Gly27505=) c.63600T>G (p.Gly21200=) c.63399T>G (p.Gly21133=) c.63024T>G (p.Gly21008=) c.90219T>G (p.Gly30073=) c.85296T>G (p.Gly28432=) n.447-18619A>C n.2043+10320A>C c.89316T>G (p.Gly29772=) c.63210T>G (p.Gly21070=) c.63069T>G (p.Gly21023=) c.89112T>G (p.Gly29704=) c.84510T>G (p.Gly28170=) c.84507T>G (p.Gly28169=) c.81549T>G (p.Gly27183=) c.63165T>G (p.Gly21055=) c.84660T>G (p.Gly28220=) c.84657T>G (p.Gly28219=) c.84090T>G (p.Gly28030=) c.81432T>G (p.Gly27144=) c.81351T>G (p.Gly27117=) c.63114T>G (p.Gly21038=) c.52968T>G (p.Gly17656=) | |
2 | g.178552681A>G | CA430245634 | TTN,TTN-AS1 | c.82515T>C (p.Gly27505=) c.63600T>C (p.Gly21200=) c.63399T>C (p.Gly21133=) c.63024T>C (p.Gly21008=) c.90219T>C (p.Gly30073=) c.85296T>C (p.Gly28432=) n.447-18619A>G n.2043+10320A>G c.89316T>C (p.Gly29772=) c.63210T>C (p.Gly21070=) c.63069T>C (p.Gly21023=) c.89112T>C (p.Gly29704=) c.84510T>C (p.Gly28170=) c.84507T>C (p.Gly28169=) c.81549T>C (p.Gly27183=) c.63165T>C (p.Gly21055=) c.84660T>C (p.Gly28220=) c.84657T>C (p.Gly28219=) c.84090T>C (p.Gly28030=) c.81432T>C (p.Gly27144=) c.81351T>C (p.Gly27117=) c.63114T>C (p.Gly21038=) c.52968T>C (p.Gly17656=) | |
2 | g.178552681A>T | CA430245636 | TTN,TTN-AS1 | c.82515T>A (p.Gly27505=) c.63600T>A (p.Gly21200=) c.63399T>A (p.Gly21133=) c.63024T>A (p.Gly21008=) c.90219T>A (p.Gly30073=) c.85296T>A (p.Gly28432=) n.447-18619A>T n.2043+10320A>T c.89316T>A (p.Gly29772=) c.63210T>A (p.Gly21070=) c.63069T>A (p.Gly21023=) c.89112T>A (p.Gly29704=) c.84510T>A (p.Gly28170=) c.84507T>A (p.Gly28169=) c.81549T>A (p.Gly27183=) c.63165T>A (p.Gly21055=) c.84660T>A (p.Gly28220=) c.84657T>A (p.Gly28219=) c.84090T>A (p.Gly28030=) c.81432T>A (p.Gly27144=) c.81351T>A (p.Gly27117=) c.63114T>A (p.Gly21038=) c.52968T>A (p.Gly17656=) | |
2 | g.178552687_178552692del | CA1039704590 | TTN,TTN-AS1 | c.82510_82515del (p.Lys27504_Gly27505del) c.63595_63600del (p.Lys21199_Gly21200del) c.63394_63399del (p.Lys21132_Gly21133del) c.63019_63024del (p.Lys21007_Gly21008del) c.90214_90219del (p.Lys30072_Gly30073del) c.85291_85296del (p.Lys28431_Gly28432del) n.447-18613_447-18608del n.2043+10326_2043+10331del c.89311_89316del (p.Lys29771_Gly29772del) c.63205_63210del (p.Lys21069_Gly21070del) c.63064_63069del (p.Lys21022_Gly21023del) c.89107_89112del (p.Lys29703_Gly29704del) c.84505_84510del (p.Lys28169_Gly28170del) c.84502_84507del (p.Lys28168_Gly28169del) c.81544_81549del (p.Lys27182_Gly27183del) c.63160_63165del (p.Lys21054_Gly21055del) c.84655_84660del (p.Lys28219_Gly28220del) c.84652_84657del (p.Lys28218_Gly28219del) c.84085_84090del (p.Lys28029_Gly28030del) c.81427_81432del (p.Lys27143_Gly27144del) c.81346_81351del (p.Lys27116_Gly27117del) c.63109_63114del (p.Lys21037_Gly21038del) c.52963_52968del (p.Lys17655_Gly17656del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178552682C>A | CA349512838 | TTN,TTN-AS1 | c.82514G>T (p.Gly27505Val) c.63599G>T (p.Gly21200Val) c.63398G>T (p.Gly21133Val) c.63023G>T (p.Gly21008Val) c.90218G>T (p.Gly30073Val) c.85295G>T (p.Gly28432Val) n.447-18618C>A n.2043+10321C>A c.89315G>T (p.Gly29772Val) c.63209G>T (p.Gly21070Val) c.63068G>T (p.Gly21023Val) c.89111G>T (p.Gly29704Val) c.84509G>T (p.Gly28170Val) c.84506G>T (p.Gly28169Val) c.81548G>T (p.Gly27183Val) c.63164G>T (p.Gly21055Val) c.84659G>T (p.Gly28220Val) c.84656G>T (p.Gly28219Val) c.84089G>T (p.Gly28030Val) c.81431G>T (p.Gly27144Val) c.81350G>T (p.Gly27117Val) c.63113G>T (p.Gly21038Val) c.52967G>T (p.Gly17656Val) |