| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178557700A>C | CA349535006 | TTN,TTN-AS1 | c.79950T>G (p.Phe26650Leu) c.61035T>G (p.Phe20345Leu) c.60834T>G (p.Phe20278Leu) c.60459T>G (p.Phe20153Leu) c.87654T>G (p.Phe29218Leu) c.82731T>G (p.Phe27577Leu) n.447-13600A>C n.2043+15339A>C c.86751T>G (p.Phe28917Leu) c.60645T>G (p.Phe20215Leu) c.60504T>G (p.Phe20168Leu) c.86547T>G (p.Phe28849Leu) c.81945T>G (p.Phe27315Leu) c.81942T>G (p.Phe27314Leu) c.78984T>G (p.Phe26328Leu) c.60600T>G (p.Phe20200Leu) c.82095T>G (p.Phe27365Leu) c.82092T>G (p.Phe27364Leu) c.81525T>G (p.Phe27175Leu) c.78867T>G (p.Phe26289Leu) c.78786T>G (p.Phe26262Leu) c.60549T>G (p.Phe20183Leu) c.50403T>G (p.Phe16801Leu) | gnomAD v4 |
| 2 | g.178557700A>G | CA430247311 | TTN,TTN-AS1 | c.79950T>C (p.Phe26650=) c.61035T>C (p.Phe20345=) c.60834T>C (p.Phe20278=) c.60459T>C (p.Phe20153=) c.87654T>C (p.Phe29218=) c.82731T>C (p.Phe27577=) n.447-13600A>G n.2043+15339A>G c.86751T>C (p.Phe28917=) c.60645T>C (p.Phe20215=) c.60504T>C (p.Phe20168=) c.86547T>C (p.Phe28849=) c.81945T>C (p.Phe27315=) c.81942T>C (p.Phe27314=) c.78984T>C (p.Phe26328=) c.60600T>C (p.Phe20200=) c.82095T>C (p.Phe27365=) c.82092T>C (p.Phe27364=) c.81525T>C (p.Phe27175=) c.78867T>C (p.Phe26289=) c.78786T>C (p.Phe26262=) c.60549T>C (p.Phe20183=) c.50403T>C (p.Phe16801=) | |
| 2 | g.178557700A>T | CA349535004 | TTN,TTN-AS1 | c.79950T>A (p.Phe26650Leu) c.61035T>A (p.Phe20345Leu) c.60834T>A (p.Phe20278Leu) c.60459T>A (p.Phe20153Leu) c.87654T>A (p.Phe29218Leu) c.82731T>A (p.Phe27577Leu) n.447-13600A>T n.2043+15339A>T c.86751T>A (p.Phe28917Leu) c.60645T>A (p.Phe20215Leu) c.60504T>A (p.Phe20168Leu) c.86547T>A (p.Phe28849Leu) c.81945T>A (p.Phe27315Leu) c.81942T>A (p.Phe27314Leu) c.78984T>A (p.Phe26328Leu) c.60600T>A (p.Phe20200Leu) c.82095T>A (p.Phe27365Leu) c.82092T>A (p.Phe27364Leu) c.81525T>A (p.Phe27175Leu) c.78867T>A (p.Phe26289Leu) c.78786T>A (p.Phe26262Leu) c.60549T>A (p.Phe20183Leu) c.50403T>A (p.Phe16801Leu) | |
| 2 | g.178557700_178557708dup | CA2662128665 | TTN,TTN-AS1 | c.79942_79950dup (p.Phe26650_Gly26651insAsnArgPhe) c.61027_61035dup (p.Phe20345_Gly20346insAsnArgPhe) c.60826_60834dup (p.Phe20278_Gly20279insAsnArgPhe) c.60451_60459dup (p.Phe20153_Gly20154insAsnArgPhe) c.87646_87654dup (p.Phe29218_Gly29219insAsnArgPhe) c.82723_82731dup (p.Phe27577_Gly27578insAsnArgPhe) n.447-13600_447-13592dup n.2043+15339_2043+15347dup c.86743_86751dup (p.Phe28917_Gly28918insAsnArgPhe) c.60637_60645dup (p.Phe20215_Gly20216insAsnArgPhe) c.60496_60504dup (p.Phe20168_Gly20169insAsnArgPhe) c.86539_86547dup (p.Phe28849_Gly28850insAsnArgPhe) c.81937_81945dup (p.Phe27315_Gly27316insAsnArgPhe) c.81934_81942dup (p.Phe27314_Gly27315insAsnArgPhe) c.78976_78984dup (p.Phe26328_Gly26329insAsnArgPhe) c.60592_60600dup (p.Phe20200_Gly20201insAsnArgPhe) c.82087_82095dup (p.Phe27365_Gly27366insAsnArgPhe) c.82084_82092dup (p.Phe27364_Gly27365insAsnArgPhe) c.81517_81525dup (p.Phe27175_Gly27176insAsnArgPhe) c.78859_78867dup (p.Phe26289_Gly26290insAsnArgPhe) c.78778_78786dup (p.Phe26262_Gly26263insAsnArgPhe) c.60541_60549dup (p.Phe20183_Gly20184insAsnArgPhe) c.50395_50403dup (p.Phe16801_Gly16802insAsnArgPhe) | gnomAD v4 |
| 2 | g.178557701A>C | CA349535008 | TTN,TTN-AS1 | c.79949T>G (p.Phe26650Cys) c.61034T>G (p.Phe20345Cys) c.60833T>G (p.Phe20278Cys) c.60458T>G (p.Phe20153Cys) c.87653T>G (p.Phe29218Cys) c.82730T>G (p.Phe27577Cys) n.447-13599A>C n.2043+15340A>C c.86750T>G (p.Phe28917Cys) c.60644T>G (p.Phe20215Cys) c.60503T>G (p.Phe20168Cys) c.86546T>G (p.Phe28849Cys) c.81944T>G (p.Phe27315Cys) c.81941T>G (p.Phe27314Cys) c.78983T>G (p.Phe26328Cys) c.60599T>G (p.Phe20200Cys) c.82094T>G (p.Phe27365Cys) c.82091T>G (p.Phe27364Cys) c.81524T>G (p.Phe27175Cys) c.78866T>G (p.Phe26289Cys) c.78785T>G (p.Phe26262Cys) c.60548T>G (p.Phe20183Cys) c.50402T>G (p.Phe16801Cys) | |
| 2 | g.178557701A>G | CA349535010 | TTN,TTN-AS1 | c.79949T>C (p.Phe26650Ser) c.61034T>C (p.Phe20345Ser) c.60833T>C (p.Phe20278Ser) c.60458T>C (p.Phe20153Ser) c.87653T>C (p.Phe29218Ser) c.82730T>C (p.Phe27577Ser) n.447-13599A>G n.2043+15340A>G c.86750T>C (p.Phe28917Ser) c.60644T>C (p.Phe20215Ser) c.60503T>C (p.Phe20168Ser) c.86546T>C (p.Phe28849Ser) c.81944T>C (p.Phe27315Ser) c.81941T>C (p.Phe27314Ser) c.78983T>C (p.Phe26328Ser) c.60599T>C (p.Phe20200Ser) c.82094T>C (p.Phe27365Ser) c.82091T>C (p.Phe27364Ser) c.81524T>C (p.Phe27175Ser) c.78866T>C (p.Phe26289Ser) c.78785T>C (p.Phe26262Ser) c.60548T>C (p.Phe20183Ser) c.50402T>C (p.Phe16801Ser) | |
| 2 | g.178557701A>T | CA349535011 | TTN,TTN-AS1 | c.79949T>A (p.Phe26650Tyr) c.61034T>A (p.Phe20345Tyr) c.60833T>A (p.Phe20278Tyr) c.60458T>A (p.Phe20153Tyr) c.87653T>A (p.Phe29218Tyr) c.82730T>A (p.Phe27577Tyr) n.447-13599A>T n.2043+15340A>T c.86750T>A (p.Phe28917Tyr) c.60644T>A (p.Phe20215Tyr) c.60503T>A (p.Phe20168Tyr) c.86546T>A (p.Phe28849Tyr) c.81944T>A (p.Phe27315Tyr) c.81941T>A (p.Phe27314Tyr) c.78983T>A (p.Phe26328Tyr) c.60599T>A (p.Phe20200Tyr) c.82094T>A (p.Phe27365Tyr) c.82091T>A (p.Phe27364Tyr) c.81524T>A (p.Phe27175Tyr) c.78866T>A (p.Phe26289Tyr) c.78785T>A (p.Phe26262Tyr) c.60548T>A (p.Phe20183Tyr) c.50402T>A (p.Phe16801Tyr) | |
| 2 | g.178557702A>C | CA349535012 | TTN,TTN-AS1 | c.79948T>G (p.Phe26650Val) c.61033T>G (p.Phe20345Val) c.60832T>G (p.Phe20278Val) c.60457T>G (p.Phe20153Val) c.87652T>G (p.Phe29218Val) c.82729T>G (p.Phe27577Val) n.447-13598A>C n.2043+15341A>C c.86749T>G (p.Phe28917Val) c.60643T>G (p.Phe20215Val) c.60502T>G (p.Phe20168Val) c.86545T>G (p.Phe28849Val) c.81943T>G (p.Phe27315Val) c.81940T>G (p.Phe27314Val) c.78982T>G (p.Phe26328Val) c.60598T>G (p.Phe20200Val) c.82093T>G (p.Phe27365Val) c.82090T>G (p.Phe27364Val) c.81523T>G (p.Phe27175Val) c.78865T>G (p.Phe26289Val) c.78784T>G (p.Phe26262Val) c.60547T>G (p.Phe20183Val) c.50401T>G (p.Phe16801Val) | |
| 2 | g.178557702A>G | CA349535014 | TTN,TTN-AS1 | c.79948T>C (p.Phe26650Leu) c.61033T>C (p.Phe20345Leu) c.60832T>C (p.Phe20278Leu) c.60457T>C (p.Phe20153Leu) c.87652T>C (p.Phe29218Leu) c.82729T>C (p.Phe27577Leu) n.447-13598A>G n.2043+15341A>G c.86749T>C (p.Phe28917Leu) c.60643T>C (p.Phe20215Leu) c.60502T>C (p.Phe20168Leu) c.86545T>C (p.Phe28849Leu) c.81943T>C (p.Phe27315Leu) c.81940T>C (p.Phe27314Leu) c.78982T>C (p.Phe26328Leu) c.60598T>C (p.Phe20200Leu) c.82093T>C (p.Phe27365Leu) c.82090T>C (p.Phe27364Leu) c.81523T>C (p.Phe27175Leu) c.78865T>C (p.Phe26289Leu) c.78784T>C (p.Phe26262Leu) c.60547T>C (p.Phe20183Leu) c.50401T>C (p.Phe16801Leu) | |
| 2 | g.178557702A>T | CA349535016 | TTN,TTN-AS1 | c.79948T>A (p.Phe26650Ile) c.61033T>A (p.Phe20345Ile) c.60832T>A (p.Phe20278Ile) c.60457T>A (p.Phe20153Ile) c.87652T>A (p.Phe29218Ile) c.82729T>A (p.Phe27577Ile) n.447-13598A>T n.2043+15341A>T c.86749T>A (p.Phe28917Ile) c.60643T>A (p.Phe20215Ile) c.60502T>A (p.Phe20168Ile) c.86545T>A (p.Phe28849Ile) c.81943T>A (p.Phe27315Ile) c.81940T>A (p.Phe27314Ile) c.78982T>A (p.Phe26328Ile) c.60598T>A (p.Phe20200Ile) c.82093T>A (p.Phe27365Ile) c.82090T>A (p.Phe27364Ile) c.81523T>A (p.Phe27175Ile) c.78865T>A (p.Phe26289Ile) c.78784T>A (p.Phe26262Ile) c.60547T>A (p.Phe20183Ile) c.50401T>A (p.Phe16801Ile) | |
| 2 | g.178557703G>A | CA430247317 | TTN,TTN-AS1 | c.79947C>T (p.Arg26649=) c.61032C>T (p.Arg20344=) c.60831C>T (p.Arg20277=) c.60456C>T (p.Arg20152=) c.87651C>T (p.Arg29217=) c.82728C>T (p.Arg27576=) n.447-13597G>A n.2043+15342G>A c.86748C>T (p.Arg28916=) c.60642C>T (p.Arg20214=) c.60501C>T (p.Arg20167=) c.86544C>T (p.Arg28848=) c.81942C>T (p.Arg27314=) c.81939C>T (p.Arg27313=) c.78981C>T (p.Arg26327=) c.60597C>T (p.Arg20199=) c.82092C>T (p.Arg27364=) c.82089C>T (p.Arg27363=) c.81522C>T (p.Arg27174=) c.78864C>T (p.Arg26288=) c.78783C>T (p.Arg26261=) c.60546C>T (p.Arg20182=) c.50400C>T (p.Arg16800=) | gnomAD v4 |
| 2 | g.178557703G>C | CA430247320 | TTN,TTN-AS1 | c.79947C>G (p.Arg26649=) c.61032C>G (p.Arg20344=) c.60831C>G (p.Arg20277=) c.60456C>G (p.Arg20152=) c.87651C>G (p.Arg29217=) c.82728C>G (p.Arg27576=) n.447-13597G>C n.2043+15342G>C c.86748C>G (p.Arg28916=) c.60642C>G (p.Arg20214=) c.60501C>G (p.Arg20167=) c.86544C>G (p.Arg28848=) c.81942C>G (p.Arg27314=) c.81939C>G (p.Arg27313=) c.78981C>G (p.Arg26327=) c.60597C>G (p.Arg20199=) c.82092C>G (p.Arg27364=) c.82089C>G (p.Arg27363=) c.81522C>G (p.Arg27174=) c.78864C>G (p.Arg26288=) c.78783C>G (p.Arg26261=) c.60546C>G (p.Arg20182=) c.50400C>G (p.Arg16800=) | |
| 2 | g.178557703G>T | CA430247319 | TTN,TTN-AS1 | c.79947C>A (p.Arg26649=) c.61032C>A (p.Arg20344=) c.60831C>A (p.Arg20277=) c.60456C>A (p.Arg20152=) c.87651C>A (p.Arg29217=) c.82728C>A (p.Arg27576=) n.447-13597G>T n.2043+15342G>T c.86748C>A (p.Arg28916=) c.60642C>A (p.Arg20214=) c.60501C>A (p.Arg20167=) c.86544C>A (p.Arg28848=) c.81942C>A (p.Arg27314=) c.81939C>A (p.Arg27313=) c.78981C>A (p.Arg26327=) c.60597C>A (p.Arg20199=) c.82092C>A (p.Arg27364=) c.82089C>A (p.Arg27363=) c.81522C>A (p.Arg27174=) c.78864C>A (p.Arg26288=) c.78783C>A (p.Arg26261=) c.60546C>A (p.Arg20182=) c.50400C>A (p.Arg16800=) | |
| 2 | g.178557704C>A | CA349535018 | TTN,TTN-AS1 | c.79946G>T (p.Arg26649Leu) c.61031G>T (p.Arg20344Leu) c.60830G>T (p.Arg20277Leu) c.60455G>T (p.Arg20152Leu) c.87650G>T (p.Arg29217Leu) c.82727G>T (p.Arg27576Leu) n.447-13596C>A n.2043+15343C>A c.86747G>T (p.Arg28916Leu) c.60641G>T (p.Arg20214Leu) c.60500G>T (p.Arg20167Leu) c.86543G>T (p.Arg28848Leu) c.81941G>T (p.Arg27314Leu) c.81938G>T (p.Arg27313Leu) c.78980G>T (p.Arg26327Leu) c.60596G>T (p.Arg20199Leu) c.82091G>T (p.Arg27364Leu) c.82088G>T (p.Arg27363Leu) c.81521G>T (p.Arg27174Leu) c.78863G>T (p.Arg26288Leu) c.78782G>T (p.Arg26261Leu) c.60545G>T (p.Arg20182Leu) c.50399G>T (p.Arg16800Leu) | |
| 2 | g.178557704C= | CA1310525891 | TTN,TTN-AS1 | c.79946G= (p.Arg26649=) c.61031G= (p.Arg20344=) c.60830G= (p.Arg20277=) c.60455G= (p.Arg20152=) c.87650G= (p.Arg29217=) c.82727G= (p.Arg27576=) n.447-13596C= n.2043+15343C= c.86747G= (p.Arg28916=) c.60641G= (p.Arg20214=) c.60500G= (p.Arg20167=) c.86543G= (p.Arg28848=) c.81941G= (p.Arg27314=) c.81938G= (p.Arg27313=) c.78980G= (p.Arg26327=) c.60596G= (p.Arg20199=) c.82091G= (p.Arg27364=) c.82088G= (p.Arg27363=) c.81521G= (p.Arg27174=) c.78863G= (p.Arg26288=) c.78782G= (p.Arg26261=) c.60545G= (p.Arg20182=) c.50399G= (p.Arg16800=) | |
| 2 | g.178557704C>G | CA349535021 | TTN,TTN-AS1 | c.79946G>C (p.Arg26649Pro) c.61031G>C (p.Arg20344Pro) c.60830G>C (p.Arg20277Pro) c.60455G>C (p.Arg20152Pro) c.87650G>C (p.Arg29217Pro) c.82727G>C (p.Arg27576Pro) n.447-13596C>G n.2043+15343C>G c.86747G>C (p.Arg28916Pro) c.60641G>C (p.Arg20214Pro) c.60500G>C (p.Arg20167Pro) c.86543G>C (p.Arg28848Pro) c.81941G>C (p.Arg27314Pro) c.81938G>C (p.Arg27313Pro) c.78980G>C (p.Arg26327Pro) c.60596G>C (p.Arg20199Pro) c.82091G>C (p.Arg27364Pro) c.82088G>C (p.Arg27363Pro) c.81521G>C (p.Arg27174Pro) c.78863G>C (p.Arg26288Pro) c.78782G>C (p.Arg26261Pro) c.60545G>C (p.Arg20182Pro) c.50399G>C (p.Arg16800Pro) | |
| 2 | g.178557704C>T | CA1988285 | TTN,TTN-AS1 | c.79946G>A (p.Arg26649His) c.61031G>A (p.Arg20344His) c.60830G>A (p.Arg20277His) c.60455G>A (p.Arg20152His) c.87650G>A (p.Arg29217His) c.82727G>A (p.Arg27576His) n.447-13596C>T n.2043+15343C>T c.86747G>A (p.Arg28916His) c.60641G>A (p.Arg20214His) c.60500G>A (p.Arg20167His) c.86543G>A (p.Arg28848His) c.81941G>A (p.Arg27314His) c.81938G>A (p.Arg27313His) c.78980G>A (p.Arg26327His) c.60596G>A (p.Arg20199His) c.82091G>A (p.Arg27364His) c.82088G>A (p.Arg27363His) c.81521G>A (p.Arg27174His) c.78863G>A (p.Arg26288His) c.78782G>A (p.Arg26261His) c.60545G>A (p.Arg20182His) c.50399G>A (p.Arg16800His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178557705G>A | CA223985 | TTN,TTN-AS1 | c.79945C>T (p.Arg26649Cys) c.61030C>T (p.Arg20344Cys) c.60829C>T (p.Arg20277Cys) c.60454C>T (p.Arg20152Cys) c.87649C>T (p.Arg29217Cys) c.82726C>T (p.Arg27576Cys) n.447-13595G>A n.2043+15344G>A c.86746C>T (p.Arg28916Cys) c.60640C>T (p.Arg20214Cys) c.60499C>T (p.Arg20167Cys) c.86542C>T (p.Arg28848Cys) c.81940C>T (p.Arg27314Cys) c.81937C>T (p.Arg27313Cys) c.78979C>T (p.Arg26327Cys) c.60595C>T (p.Arg20199Cys) c.82090C>T (p.Arg27364Cys) c.82087C>T (p.Arg27363Cys) c.81520C>T (p.Arg27174Cys) c.78862C>T (p.Arg26288Cys) c.78781C>T (p.Arg26261Cys) c.60544C>T (p.Arg20182Cys) c.50398C>T (p.Arg16800Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178557705G>C | CA349535023 | TTN,TTN-AS1 | c.79945C>G (p.Arg26649Gly) c.61030C>G (p.Arg20344Gly) c.60829C>G (p.Arg20277Gly) c.60454C>G (p.Arg20152Gly) c.87649C>G (p.Arg29217Gly) c.82726C>G (p.Arg27576Gly) n.447-13595G>C n.2043+15344G>C c.86746C>G (p.Arg28916Gly) c.60640C>G (p.Arg20214Gly) c.60499C>G (p.Arg20167Gly) c.86542C>G (p.Arg28848Gly) c.81940C>G (p.Arg27314Gly) c.81937C>G (p.Arg27313Gly) c.78979C>G (p.Arg26327Gly) c.60595C>G (p.Arg20199Gly) c.82090C>G (p.Arg27364Gly) c.82087C>G (p.Arg27363Gly) c.81520C>G (p.Arg27174Gly) c.78862C>G (p.Arg26288Gly) c.78781C>G (p.Arg26261Gly) c.60544C>G (p.Arg20182Gly) c.50398C>G (p.Arg16800Gly) | |
| 2 | g.178557705G= | CA1310525892 | TTN,TTN-AS1 | c.79945C= (p.Arg26649=) c.61030C= (p.Arg20344=) c.60829C= (p.Arg20277=) c.60454C= (p.Arg20152=) c.87649C= (p.Arg29217=) c.82726C= (p.Arg27576=) n.447-13595G= n.2043+15344G= c.86746C= (p.Arg28916=) c.60640C= (p.Arg20214=) c.60499C= (p.Arg20167=) c.86542C= (p.Arg28848=) c.81940C= (p.Arg27314=) c.81937C= (p.Arg27313=) c.78979C= (p.Arg26327=) c.60595C= (p.Arg20199=) c.82090C= (p.Arg27364=) c.82087C= (p.Arg27363=) c.81520C= (p.Arg27174=) c.78862C= (p.Arg26288=) c.78781C= (p.Arg26261=) c.60544C= (p.Arg20182=) c.50398C= (p.Arg16800=) | |
| 2 | g.178557705G>T | CA349535026 | TTN,TTN-AS1 | c.79945C>A (p.Arg26649Ser) c.61030C>A (p.Arg20344Ser) c.60829C>A (p.Arg20277Ser) c.60454C>A (p.Arg20152Ser) c.87649C>A (p.Arg29217Ser) c.82726C>A (p.Arg27576Ser) n.447-13595G>T n.2043+15344G>T c.86746C>A (p.Arg28916Ser) c.60640C>A (p.Arg20214Ser) c.60499C>A (p.Arg20167Ser) c.86542C>A (p.Arg28848Ser) c.81940C>A (p.Arg27314Ser) c.81937C>A (p.Arg27313Ser) c.78979C>A (p.Arg26327Ser) c.60595C>A (p.Arg20199Ser) c.82090C>A (p.Arg27364Ser) c.82087C>A (p.Arg27363Ser) c.81520C>A (p.Arg27174Ser) c.78862C>A (p.Arg26288Ser) c.78781C>A (p.Arg26261Ser) c.60544C>A (p.Arg20182Ser) c.50398C>A (p.Arg16800Ser) | gnomAD v4 |
| 2 | g.178557706G>A | CA430247327 | TTN,TTN-AS1 | c.79944C>T (p.Asn26648=) c.61029C>T (p.Asn20343=) c.60828C>T (p.Asn20276=) c.60453C>T (p.Asn20151=) c.87648C>T (p.Asn29216=) c.82725C>T (p.Asn27575=) n.447-13594G>A n.2043+15345G>A c.86745C>T (p.Asn28915=) c.60639C>T (p.Asn20213=) c.60498C>T (p.Asn20166=) c.86541C>T (p.Asn28847=) c.81939C>T (p.Asn27313=) c.81936C>T (p.Asn27312=) c.78978C>T (p.Asn26326=) c.60594C>T (p.Asn20198=) c.82089C>T (p.Asn27363=) c.82086C>T (p.Asn27362=) c.81519C>T (p.Asn27173=) c.78861C>T (p.Asn26287=) c.78780C>T (p.Asn26260=) c.60543C>T (p.Asn20181=) c.50397C>T (p.Asn16799=) | |
| 2 | g.178557706G>C | CA349535028 | TTN,TTN-AS1 | c.79944C>G (p.Asn26648Lys) c.61029C>G (p.Asn20343Lys) c.60828C>G (p.Asn20276Lys) c.60453C>G (p.Asn20151Lys) c.87648C>G (p.Asn29216Lys) c.82725C>G (p.Asn27575Lys) n.447-13594G>C n.2043+15345G>C c.86745C>G (p.Asn28915Lys) c.60639C>G (p.Asn20213Lys) c.60498C>G (p.Asn20166Lys) c.86541C>G (p.Asn28847Lys) c.81939C>G (p.Asn27313Lys) c.81936C>G (p.Asn27312Lys) c.78978C>G (p.Asn26326Lys) c.60594C>G (p.Asn20198Lys) c.82089C>G (p.Asn27363Lys) c.82086C>G (p.Asn27362Lys) c.81519C>G (p.Asn27173Lys) c.78861C>G (p.Asn26287Lys) c.78780C>G (p.Asn26260Lys) c.60543C>G (p.Asn20181Lys) c.50397C>G (p.Asn16799Lys) | |
| 2 | g.178557706G>T | CA349535029 | TTN,TTN-AS1 | c.79944C>A (p.Asn26648Lys) c.61029C>A (p.Asn20343Lys) c.60828C>A (p.Asn20276Lys) c.60453C>A (p.Asn20151Lys) c.87648C>A (p.Asn29216Lys) c.82725C>A (p.Asn27575Lys) n.447-13594G>T n.2043+15345G>T c.86745C>A (p.Asn28915Lys) c.60639C>A (p.Asn20213Lys) c.60498C>A (p.Asn20166Lys) c.86541C>A (p.Asn28847Lys) c.81939C>A (p.Asn27313Lys) c.81936C>A (p.Asn27312Lys) c.78978C>A (p.Asn26326Lys) c.60594C>A (p.Asn20198Lys) c.82089C>A (p.Asn27363Lys) c.82086C>A (p.Asn27362Lys) c.81519C>A (p.Asn27173Lys) c.78861C>A (p.Asn26287Lys) c.78780C>A (p.Asn26260Lys) c.60543C>A (p.Asn20181Lys) c.50397C>A (p.Asn16799Lys) | gnomAD v4 |
| 2 | g.178557707T>A | CA349535032 | TTN,TTN-AS1 | c.79943A>T (p.Asn26648Ile) c.61028A>T (p.Asn20343Ile) c.60827A>T (p.Asn20276Ile) c.60452A>T (p.Asn20151Ile) c.87647A>T (p.Asn29216Ile) c.82724A>T (p.Asn27575Ile) n.447-13593T>A n.2043+15346T>A c.86744A>T (p.Asn28915Ile) c.60638A>T (p.Asn20213Ile) c.60497A>T (p.Asn20166Ile) c.86540A>T (p.Asn28847Ile) c.81938A>T (p.Asn27313Ile) c.81935A>T (p.Asn27312Ile) c.78977A>T (p.Asn26326Ile) c.60593A>T (p.Asn20198Ile) c.82088A>T (p.Asn27363Ile) c.82085A>T (p.Asn27362Ile) c.81518A>T (p.Asn27173Ile) c.78860A>T (p.Asn26287Ile) c.78779A>T (p.Asn26260Ile) c.60542A>T (p.Asn20181Ile) c.50396A>T (p.Asn16799Ile) | |
| 2 | g.178557707T>C | CA349535033 | TTN,TTN-AS1 | c.79943A>G (p.Asn26648Ser) c.61028A>G (p.Asn20343Ser) c.60827A>G (p.Asn20276Ser) c.60452A>G (p.Asn20151Ser) c.87647A>G (p.Asn29216Ser) c.82724A>G (p.Asn27575Ser) n.447-13593T>C n.2043+15346T>C c.86744A>G (p.Asn28915Ser) c.60638A>G (p.Asn20213Ser) c.60497A>G (p.Asn20166Ser) c.86540A>G (p.Asn28847Ser) c.81938A>G (p.Asn27313Ser) c.81935A>G (p.Asn27312Ser) c.78977A>G (p.Asn26326Ser) c.60593A>G (p.Asn20198Ser) c.82088A>G (p.Asn27363Ser) c.82085A>G (p.Asn27362Ser) c.81518A>G (p.Asn27173Ser) c.78860A>G (p.Asn26287Ser) c.78779A>G (p.Asn26260Ser) c.60542A>G (p.Asn20181Ser) c.50396A>G (p.Asn16799Ser) | |
| 2 | g.178557707T>G | CA349535035 | TTN,TTN-AS1 | c.79943A>C (p.Asn26648Thr) c.61028A>C (p.Asn20343Thr) c.60827A>C (p.Asn20276Thr) c.60452A>C (p.Asn20151Thr) c.87647A>C (p.Asn29216Thr) c.82724A>C (p.Asn27575Thr) n.447-13593T>G n.2043+15346T>G c.86744A>C (p.Asn28915Thr) c.60638A>C (p.Asn20213Thr) c.60497A>C (p.Asn20166Thr) c.86540A>C (p.Asn28847Thr) c.81938A>C (p.Asn27313Thr) c.81935A>C (p.Asn27312Thr) c.78977A>C (p.Asn26326Thr) c.60593A>C (p.Asn20198Thr) c.82088A>C (p.Asn27363Thr) c.82085A>C (p.Asn27362Thr) c.81518A>C (p.Asn27173Thr) c.78860A>C (p.Asn26287Thr) c.78779A>C (p.Asn26260Thr) c.60542A>C (p.Asn20181Thr) c.50396A>C (p.Asn16799Thr) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178557710del | CA2586965324 | TTN,TTN-AS1 | c.79943del (p.Asn26648ThrfsTer9) c.61028del (p.Asn20343ThrfsTer9) c.60827del (p.Asn20276ThrfsTer9) c.60452del (p.Asn20151ThrfsTer9) c.87647del (p.Asn29216ThrfsTer9) c.82724del (p.Asn27575ThrfsTer9) n.447-13590del n.2043+15349del c.86744del (p.Asn28915ThrfsTer9) c.60638del (p.Asn20213ThrfsTer9) c.60497del (p.Asn20166ThrfsTer9) c.86540del (p.Asn28847ThrfsTer9) c.81938del (p.Asn27313ThrfsTer9) c.81935del (p.Asn27312ThrfsTer9) c.78977del (p.Asn26326ThrfsTer9) c.60593del (p.Asn20198ThrfsTer9) c.82088del (p.Asn27363ThrfsTer9) c.82085del (p.Asn27362ThrfsTer9) c.81518del (p.Asn27173ThrfsTer9) c.78860del (p.Asn26287ThrfsTer9) c.78779del (p.Asn26260ThrfsTer9) c.60542del (p.Asn20181ThrfsTer9) c.50396del (p.Asn16799ThrfsTer9) | |
| 2 | g.178557708T>A | CA349535038 | TTN,TTN-AS1 | c.79942A>T (p.Asn26648Tyr) c.61027A>T (p.Asn20343Tyr) c.60826A>T (p.Asn20276Tyr) c.60451A>T (p.Asn20151Tyr) c.87646A>T (p.Asn29216Tyr) c.82723A>T (p.Asn27575Tyr) n.447-13592T>A n.2043+15347T>A c.86743A>T (p.Asn28915Tyr) c.60637A>T (p.Asn20213Tyr) c.60496A>T (p.Asn20166Tyr) c.86539A>T (p.Asn28847Tyr) c.81937A>T (p.Asn27313Tyr) c.81934A>T (p.Asn27312Tyr) c.78976A>T (p.Asn26326Tyr) c.60592A>T (p.Asn20198Tyr) c.82087A>T (p.Asn27363Tyr) c.82084A>T (p.Asn27362Tyr) c.81517A>T (p.Asn27173Tyr) c.78859A>T (p.Asn26287Tyr) c.78778A>T (p.Asn26260Tyr) c.60541A>T (p.Asn20181Tyr) c.50395A>T (p.Asn16799Tyr) | |
| 2 | g.178557708T>C | CA349535040 | TTN,TTN-AS1 | c.79942A>G (p.Asn26648Asp) c.61027A>G (p.Asn20343Asp) c.60826A>G (p.Asn20276Asp) c.60451A>G (p.Asn20151Asp) c.87646A>G (p.Asn29216Asp) c.82723A>G (p.Asn27575Asp) n.447-13592T>C n.2043+15347T>C c.86743A>G (p.Asn28915Asp) c.60637A>G (p.Asn20213Asp) c.60496A>G (p.Asn20166Asp) c.86539A>G (p.Asn28847Asp) c.81937A>G (p.Asn27313Asp) c.81934A>G (p.Asn27312Asp) c.78976A>G (p.Asn26326Asp) c.60592A>G (p.Asn20198Asp) c.82087A>G (p.Asn27363Asp) c.82084A>G (p.Asn27362Asp) c.81517A>G (p.Asn27173Asp) c.78859A>G (p.Asn26287Asp) c.78778A>G (p.Asn26260Asp) c.60541A>G (p.Asn20181Asp) c.50395A>G (p.Asn16799Asp) | |
| 2 | g.178557708T>G | CA349535042 | TTN,TTN-AS1 | c.79942A>C (p.Asn26648His) c.61027A>C (p.Asn20343His) c.60826A>C (p.Asn20276His) c.60451A>C (p.Asn20151His) c.87646A>C (p.Asn29216His) c.82723A>C (p.Asn27575His) n.447-13592T>G n.2043+15347T>G c.86743A>C (p.Asn28915His) c.60637A>C (p.Asn20213His) c.60496A>C (p.Asn20166His) c.86539A>C (p.Asn28847His) c.81937A>C (p.Asn27313His) c.81934A>C (p.Asn27312His) c.78976A>C (p.Asn26326His) c.60592A>C (p.Asn20198His) c.82087A>C (p.Asn27363His) c.82084A>C (p.Asn27362His) c.81517A>C (p.Asn27173His) c.78859A>C (p.Asn26287His) c.78778A>C (p.Asn26260His) c.60541A>C (p.Asn20181His) c.50395A>C (p.Asn16799His) | |
| 2 | g.178557709T>A | CA349535045 | TTN,TTN-AS1 | c.79941A>T (p.Glu26647Asp) c.61026A>T (p.Glu20342Asp) c.60825A>T (p.Glu20275Asp) c.60450A>T (p.Glu20150Asp) c.87645A>T (p.Glu29215Asp) c.82722A>T (p.Glu27574Asp) n.447-13591T>A n.2043+15348T>A c.86742A>T (p.Glu28914Asp) c.60636A>T (p.Glu20212Asp) c.60495A>T (p.Glu20165Asp) c.86538A>T (p.Glu28846Asp) c.81936A>T (p.Glu27312Asp) c.81933A>T (p.Glu27311Asp) c.78975A>T (p.Glu26325Asp) c.60591A>T (p.Glu20197Asp) c.82086A>T (p.Glu27362Asp) c.82083A>T (p.Glu27361Asp) c.81516A>T (p.Glu27172Asp) c.78858A>T (p.Glu26286Asp) c.78777A>T (p.Glu26259Asp) c.60540A>T (p.Glu20180Asp) c.50394A>T (p.Glu16798Asp) | |
| 2 | g.178557709T>C | CA430247338 | TTN,TTN-AS1 | c.79941A>G (p.Glu26647=) c.61026A>G (p.Glu20342=) c.60825A>G (p.Glu20275=) c.60450A>G (p.Glu20150=) c.87645A>G (p.Glu29215=) c.82722A>G (p.Glu27574=) n.447-13591T>C n.2043+15348T>C c.86742A>G (p.Glu28914=) c.60636A>G (p.Glu20212=) c.60495A>G (p.Glu20165=) c.86538A>G (p.Glu28846=) c.81936A>G (p.Glu27312=) c.81933A>G (p.Glu27311=) c.78975A>G (p.Glu26325=) c.60591A>G (p.Glu20197=) c.82086A>G (p.Glu27362=) c.82083A>G (p.Glu27361=) c.81516A>G (p.Glu27172=) c.78858A>G (p.Glu26286=) c.78777A>G (p.Glu26259=) c.60540A>G (p.Glu20180=) c.50394A>G (p.Glu16798=) | |
| 2 | g.178557709T>G | CA349535044 | TTN,TTN-AS1 | c.79941A>C (p.Glu26647Asp) c.61026A>C (p.Glu20342Asp) c.60825A>C (p.Glu20275Asp) c.60450A>C (p.Glu20150Asp) c.87645A>C (p.Glu29215Asp) c.82722A>C (p.Glu27574Asp) n.447-13591T>G n.2043+15348T>G c.86742A>C (p.Glu28914Asp) c.60636A>C (p.Glu20212Asp) c.60495A>C (p.Glu20165Asp) c.86538A>C (p.Glu28846Asp) c.81936A>C (p.Glu27312Asp) c.81933A>C (p.Glu27311Asp) c.78975A>C (p.Glu26325Asp) c.60591A>C (p.Glu20197Asp) c.82086A>C (p.Glu27362Asp) c.82083A>C (p.Glu27361Asp) c.81516A>C (p.Glu27172Asp) c.78858A>C (p.Glu26286Asp) c.78777A>C (p.Glu26259Asp) c.60540A>C (p.Glu20180Asp) c.50394A>C (p.Glu16798Asp) | |
| 2 | g.178557710T>A | CA349535048 | TTN,TTN-AS1 | c.79940A>T (p.Glu26647Val) c.61025A>T (p.Glu20342Val) c.60824A>T (p.Glu20275Val) c.60449A>T (p.Glu20150Val) c.87644A>T (p.Glu29215Val) c.82721A>T (p.Glu27574Val) n.447-13590T>A n.2043+15349T>A c.86741A>T (p.Glu28914Val) c.60635A>T (p.Glu20212Val) c.60494A>T (p.Glu20165Val) c.86537A>T (p.Glu28846Val) c.81935A>T (p.Glu27312Val) c.81932A>T (p.Glu27311Val) c.78974A>T (p.Glu26325Val) c.60590A>T (p.Glu20197Val) c.82085A>T (p.Glu27362Val) c.82082A>T (p.Glu27361Val) c.81515A>T (p.Glu27172Val) c.78857A>T (p.Glu26286Val) c.78776A>T (p.Glu26259Val) c.60539A>T (p.Glu20180Val) c.50393A>T (p.Glu16798Val) | |
| 2 | g.178557710T>C | CA349535050 | TTN,TTN-AS1 | c.79940A>G (p.Glu26647Gly) c.61025A>G (p.Glu20342Gly) c.60824A>G (p.Glu20275Gly) c.60449A>G (p.Glu20150Gly) c.87644A>G (p.Glu29215Gly) c.82721A>G (p.Glu27574Gly) n.447-13590T>C n.2043+15349T>C c.86741A>G (p.Glu28914Gly) c.60635A>G (p.Glu20212Gly) c.60494A>G (p.Glu20165Gly) c.86537A>G (p.Glu28846Gly) c.81935A>G (p.Glu27312Gly) c.81932A>G (p.Glu27311Gly) c.78974A>G (p.Glu26325Gly) c.60590A>G (p.Glu20197Gly) c.82085A>G (p.Glu27362Gly) c.82082A>G (p.Glu27361Gly) c.81515A>G (p.Glu27172Gly) c.78857A>G (p.Glu26286Gly) c.78776A>G (p.Glu26259Gly) c.60539A>G (p.Glu20180Gly) c.50393A>G (p.Glu16798Gly) | |
| 2 | g.178557710T>G | CA349535049 | TTN,TTN-AS1 | c.79940A>C (p.Glu26647Ala) c.61025A>C (p.Glu20342Ala) c.60824A>C (p.Glu20275Ala) c.60449A>C (p.Glu20150Ala) c.87644A>C (p.Glu29215Ala) c.82721A>C (p.Glu27574Ala) n.447-13590T>G n.2043+15349T>G c.86741A>C (p.Glu28914Ala) c.60635A>C (p.Glu20212Ala) c.60494A>C (p.Glu20165Ala) c.86537A>C (p.Glu28846Ala) c.81935A>C (p.Glu27312Ala) c.81932A>C (p.Glu27311Ala) c.78974A>C (p.Glu26325Ala) c.60590A>C (p.Glu20197Ala) c.82085A>C (p.Glu27362Ala) c.82082A>C (p.Glu27361Ala) c.81515A>C (p.Glu27172Ala) c.78857A>C (p.Glu26286Ala) c.78776A>C (p.Glu26259Ala) c.60539A>C (p.Glu20180Ala) c.50393A>C (p.Glu16798Ala) | |
| 2 | g.178557711C>A | CA349535052 | TTN,TTN-AS1 | c.79939G>T (p.Glu26647Ter) c.61024G>T (p.Glu20342Ter) c.60823G>T (p.Glu20275Ter) c.60448G>T (p.Glu20150Ter) c.87643G>T (p.Glu29215Ter) c.82720G>T (p.Glu27574Ter) n.447-13589C>A n.2043+15350C>A c.86740G>T (p.Glu28914Ter) c.60634G>T (p.Glu20212Ter) c.60493G>T (p.Glu20165Ter) c.86536G>T (p.Glu28846Ter) c.81934G>T (p.Glu27312Ter) c.81931G>T (p.Glu27311Ter) c.78973G>T (p.Glu26325Ter) c.60589G>T (p.Glu20197Ter) c.82084G>T (p.Glu27362Ter) c.82081G>T (p.Glu27361Ter) c.81514G>T (p.Glu27172Ter) c.78856G>T (p.Glu26286Ter) c.78775G>T (p.Glu26259Ter) c.60538G>T (p.Glu20180Ter) c.50392G>T (p.Glu16798Ter) | |
| 2 | g.178557711C>G | CA349535055 | TTN,TTN-AS1 | c.79939G>C (p.Glu26647Gln) c.61024G>C (p.Glu20342Gln) c.60823G>C (p.Glu20275Gln) c.60448G>C (p.Glu20150Gln) c.87643G>C (p.Glu29215Gln) c.82720G>C (p.Glu27574Gln) n.447-13589C>G n.2043+15350C>G c.86740G>C (p.Glu28914Gln) c.60634G>C (p.Glu20212Gln) c.60493G>C (p.Glu20165Gln) c.86536G>C (p.Glu28846Gln) c.81934G>C (p.Glu27312Gln) c.81931G>C (p.Glu27311Gln) c.78973G>C (p.Glu26325Gln) c.60589G>C (p.Glu20197Gln) c.82084G>C (p.Glu27362Gln) c.82081G>C (p.Glu27361Gln) c.81514G>C (p.Glu27172Gln) c.78856G>C (p.Glu26286Gln) c.78775G>C (p.Glu26259Gln) c.60538G>C (p.Glu20180Gln) c.50392G>C (p.Glu16798Gln) | |
| 2 | g.178557711C>T | CA349535053 | TTN,TTN-AS1 | c.79939G>A (p.Glu26647Lys) c.61024G>A (p.Glu20342Lys) c.60823G>A (p.Glu20275Lys) c.60448G>A (p.Glu20150Lys) c.87643G>A (p.Glu29215Lys) c.82720G>A (p.Glu27574Lys) n.447-13589C>T n.2043+15350C>T c.86740G>A (p.Glu28914Lys) c.60634G>A (p.Glu20212Lys) c.60493G>A (p.Glu20165Lys) c.86536G>A (p.Glu28846Lys) c.81934G>A (p.Glu27312Lys) c.81931G>A (p.Glu27311Lys) c.78973G>A (p.Glu26325Lys) c.60589G>A (p.Glu20197Lys) c.82084G>A (p.Glu27362Lys) c.82081G>A (p.Glu27361Lys) c.81514G>A (p.Glu27172Lys) c.78856G>A (p.Glu26286Lys) c.78775G>A (p.Glu26259Lys) c.60538G>A (p.Glu20180Lys) c.50392G>A (p.Glu16798Lys) | dbSNP |
| 2 | g.178557712T>A | CA430247341 | TTN,TTN-AS1 | c.79938A>T (p.Ala26646=) c.61023A>T (p.Ala20341=) c.60822A>T (p.Ala20274=) c.60447A>T (p.Ala20149=) c.87642A>T (p.Ala29214=) c.82719A>T (p.Ala27573=) n.447-13588T>A n.2043+15351T>A c.86739A>T (p.Ala28913=) c.60633A>T (p.Ala20211=) c.60492A>T (p.Ala20164=) c.86535A>T (p.Ala28845=) c.81933A>T (p.Ala27311=) c.81930A>T (p.Ala27310=) c.78972A>T (p.Ala26324=) c.60588A>T (p.Ala20196=) c.82083A>T (p.Ala27361=) c.82080A>T (p.Ala27360=) c.81513A>T (p.Ala27171=) c.78855A>T (p.Ala26285=) c.78774A>T (p.Ala26258=) c.60537A>T (p.Ala20179=) c.50391A>T (p.Ala16797=) | |
| 2 | g.178557712T>C | CA430247344 | TTN,TTN-AS1 | c.79938A>G (p.Ala26646=) c.61023A>G (p.Ala20341=) c.60822A>G (p.Ala20274=) c.60447A>G (p.Ala20149=) c.87642A>G (p.Ala29214=) c.82719A>G (p.Ala27573=) n.447-13588T>C n.2043+15351T>C c.86739A>G (p.Ala28913=) c.60633A>G (p.Ala20211=) c.60492A>G (p.Ala20164=) c.86535A>G (p.Ala28845=) c.81933A>G (p.Ala27311=) c.81930A>G (p.Ala27310=) c.78972A>G (p.Ala26324=) c.60588A>G (p.Ala20196=) c.82083A>G (p.Ala27361=) c.82080A>G (p.Ala27360=) c.81513A>G (p.Ala27171=) c.78855A>G (p.Ala26285=) c.78774A>G (p.Ala26258=) c.60537A>G (p.Ala20179=) c.50391A>G (p.Ala16797=) | |
| 2 | g.178557712T>G | CA430247345 | TTN,TTN-AS1 | c.79938A>C (p.Ala26646=) c.61023A>C (p.Ala20341=) c.60822A>C (p.Ala20274=) c.60447A>C (p.Ala20149=) c.87642A>C (p.Ala29214=) c.82719A>C (p.Ala27573=) n.447-13588T>G n.2043+15351T>G c.86739A>C (p.Ala28913=) c.60633A>C (p.Ala20211=) c.60492A>C (p.Ala20164=) c.86535A>C (p.Ala28845=) c.81933A>C (p.Ala27311=) c.81930A>C (p.Ala27310=) c.78972A>C (p.Ala26324=) c.60588A>C (p.Ala20196=) c.82083A>C (p.Ala27361=) c.82080A>C (p.Ala27360=) c.81513A>C (p.Ala27171=) c.78855A>C (p.Ala26285=) c.78774A>C (p.Ala26258=) c.60537A>C (p.Ala20179=) c.50391A>C (p.Ala16797=) | |
| 2 | g.178557713G>A | CA349535057 | TTN,TTN-AS1 | c.79937C>T (p.Ala26646Val) c.61022C>T (p.Ala20341Val) c.60821C>T (p.Ala20274Val) c.60446C>T (p.Ala20149Val) c.87641C>T (p.Ala29214Val) c.82718C>T (p.Ala27573Val) n.447-13587G>A n.2043+15352G>A c.86738C>T (p.Ala28913Val) c.60632C>T (p.Ala20211Val) c.60491C>T (p.Ala20164Val) c.86534C>T (p.Ala28845Val) c.81932C>T (p.Ala27311Val) c.81929C>T (p.Ala27310Val) c.78971C>T (p.Ala26324Val) c.60587C>T (p.Ala20196Val) c.82082C>T (p.Ala27361Val) c.82079C>T (p.Ala27360Val) c.81512C>T (p.Ala27171Val) c.78854C>T (p.Ala26285Val) c.78773C>T (p.Ala26258Val) c.60536C>T (p.Ala20179Val) c.50390C>T (p.Ala16797Val) | |
| 2 | g.178557713G>C | CA349535058 | TTN,TTN-AS1 | c.79937C>G (p.Ala26646Gly) c.61022C>G (p.Ala20341Gly) c.60821C>G (p.Ala20274Gly) c.60446C>G (p.Ala20149Gly) c.87641C>G (p.Ala29214Gly) c.82718C>G (p.Ala27573Gly) n.447-13587G>C n.2043+15352G>C c.86738C>G (p.Ala28913Gly) c.60632C>G (p.Ala20211Gly) c.60491C>G (p.Ala20164Gly) c.86534C>G (p.Ala28845Gly) c.81932C>G (p.Ala27311Gly) c.81929C>G (p.Ala27310Gly) c.78971C>G (p.Ala26324Gly) c.60587C>G (p.Ala20196Gly) c.82082C>G (p.Ala27361Gly) c.82079C>G (p.Ala27360Gly) c.81512C>G (p.Ala27171Gly) c.78854C>G (p.Ala26285Gly) c.78773C>G (p.Ala26258Gly) c.60536C>G (p.Ala20179Gly) c.50390C>G (p.Ala16797Gly) | |
| 2 | g.178557713G>T | CA349535060 | TTN,TTN-AS1 | c.79937C>A (p.Ala26646Glu) c.61022C>A (p.Ala20341Glu) c.60821C>A (p.Ala20274Glu) c.60446C>A (p.Ala20149Glu) c.87641C>A (p.Ala29214Glu) c.82718C>A (p.Ala27573Glu) n.447-13587G>T n.2043+15352G>T c.86738C>A (p.Ala28913Glu) c.60632C>A (p.Ala20211Glu) c.60491C>A (p.Ala20164Glu) c.86534C>A (p.Ala28845Glu) c.81932C>A (p.Ala27311Glu) c.81929C>A (p.Ala27310Glu) c.78971C>A (p.Ala26324Glu) c.60587C>A (p.Ala20196Glu) c.82082C>A (p.Ala27361Glu) c.82079C>A (p.Ala27360Glu) c.81512C>A (p.Ala27171Glu) c.78854C>A (p.Ala26285Glu) c.78773C>A (p.Ala26258Glu) c.60536C>A (p.Ala20179Glu) c.50390C>A (p.Ala16797Glu) | gnomAD v4 |
| 2 | g.178557714C>A | CA349535062 | TTN,TTN-AS1 | c.79936G>T (p.Ala26646Ser) c.61021G>T (p.Ala20341Ser) c.60820G>T (p.Ala20274Ser) c.60445G>T (p.Ala20149Ser) c.87640G>T (p.Ala29214Ser) c.82717G>T (p.Ala27573Ser) n.447-13586C>A n.2043+15353C>A c.86737G>T (p.Ala28913Ser) c.60631G>T (p.Ala20211Ser) c.60490G>T (p.Ala20164Ser) c.86533G>T (p.Ala28845Ser) c.81931G>T (p.Ala27311Ser) c.81928G>T (p.Ala27310Ser) c.78970G>T (p.Ala26324Ser) c.60586G>T (p.Ala20196Ser) c.82081G>T (p.Ala27361Ser) c.82078G>T (p.Ala27360Ser) c.81511G>T (p.Ala27171Ser) c.78853G>T (p.Ala26285Ser) c.78772G>T (p.Ala26258Ser) c.60535G>T (p.Ala20179Ser) c.50389G>T (p.Ala16797Ser) | |
| 2 | g.178557714C>G | CA349535063 | TTN,TTN-AS1 | c.79936G>C (p.Ala26646Pro) c.61021G>C (p.Ala20341Pro) c.60820G>C (p.Ala20274Pro) c.60445G>C (p.Ala20149Pro) c.87640G>C (p.Ala29214Pro) c.82717G>C (p.Ala27573Pro) n.447-13586C>G n.2043+15353C>G c.86737G>C (p.Ala28913Pro) c.60631G>C (p.Ala20211Pro) c.60490G>C (p.Ala20164Pro) c.86533G>C (p.Ala28845Pro) c.81931G>C (p.Ala27311Pro) c.81928G>C (p.Ala27310Pro) c.78970G>C (p.Ala26324Pro) c.60586G>C (p.Ala20196Pro) c.82081G>C (p.Ala27361Pro) c.82078G>C (p.Ala27360Pro) c.81511G>C (p.Ala27171Pro) c.78853G>C (p.Ala26285Pro) c.78772G>C (p.Ala26258Pro) c.60535G>C (p.Ala20179Pro) c.50389G>C (p.Ala16797Pro) | |
| 2 | g.178557714C>T | CA349535065 | TTN,TTN-AS1 | c.79936G>A (p.Ala26646Thr) c.61021G>A (p.Ala20341Thr) c.60820G>A (p.Ala20274Thr) c.60445G>A (p.Ala20149Thr) c.87640G>A (p.Ala29214Thr) c.82717G>A (p.Ala27573Thr) n.447-13586C>T n.2043+15353C>T c.86737G>A (p.Ala28913Thr) c.60631G>A (p.Ala20211Thr) c.60490G>A (p.Ala20164Thr) c.86533G>A (p.Ala28845Thr) c.81931G>A (p.Ala27311Thr) c.81928G>A (p.Ala27310Thr) c.78970G>A (p.Ala26324Thr) c.60586G>A (p.Ala20196Thr) c.82081G>A (p.Ala27361Thr) c.82078G>A (p.Ala27360Thr) c.81511G>A (p.Ala27171Thr) c.78853G>A (p.Ala26285Thr) c.78772G>A (p.Ala26258Thr) c.60535G>A (p.Ala20179Thr) c.50389G>A (p.Ala16797Thr) | |
| 2 | g.178557715C>A | CA349535068 | TTN,TTN-AS1 | c.79935G>T (p.Lys26645Asn) c.61020G>T (p.Lys20340Asn) c.60819G>T (p.Lys20273Asn) c.60444G>T (p.Lys20148Asn) c.87639G>T (p.Lys29213Asn) c.82716G>T (p.Lys27572Asn) n.447-13585C>A n.2043+15354C>A c.86736G>T (p.Lys28912Asn) c.60630G>T (p.Lys20210Asn) c.60489G>T (p.Lys20163Asn) c.86532G>T (p.Lys28844Asn) c.81930G>T (p.Lys27310Asn) c.81927G>T (p.Lys27309Asn) c.78969G>T (p.Lys26323Asn) c.60585G>T (p.Lys20195Asn) c.82080G>T (p.Lys27360Asn) c.82077G>T (p.Lys27359Asn) c.81510G>T (p.Lys27170Asn) c.78852G>T (p.Lys26284Asn) c.78771G>T (p.Lys26257Asn) c.60534G>T (p.Lys20178Asn) c.50388G>T (p.Lys16796Asn) |