Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178618030C>A | CA349617975 | TTN,TTN-AS1 | c.39617G>T (p.Gly13206Val) c.20702G>T (p.Gly6901Val) c.20501G>T (p.Gly6834Val) c.20126G>T (p.Gly6709Val) c.47321G>T (p.Gly15774Val) c.42398G>T (p.Gly14133Val) n.1605-1723C>A c.46418G>T (p.Gly15473Val) c.20312G>T (p.Gly6771Val) c.20171G>T (p.Gly6724Val) c.46214G>T (p.Gly15405Val) c.41612G>T (p.Gly13871Val) c.41609G>T (p.Gly13870Val) c.38651G>T (p.Gly12884Val) c.20267G>T (p.Gly6756Val) c.41762G>T (p.Gly13921Val) c.41759G>T (p.Gly13920Val) c.41192G>T (p.Gly13731Val) c.38534G>T (p.Gly12845Val) c.38453G>T (p.Gly12818Val) c.20216G>T (p.Gly6739Val) c.10070G>T (p.Gly3357Val) | |
2 | g.178618030C>G | CA349617987 | TTN,TTN-AS1 | c.39617G>C (p.Gly13206Ala) c.20702G>C (p.Gly6901Ala) c.20501G>C (p.Gly6834Ala) c.20126G>C (p.Gly6709Ala) c.47321G>C (p.Gly15774Ala) c.42398G>C (p.Gly14133Ala) n.1605-1723C>G c.46418G>C (p.Gly15473Ala) c.20312G>C (p.Gly6771Ala) c.20171G>C (p.Gly6724Ala) c.46214G>C (p.Gly15405Ala) c.41612G>C (p.Gly13871Ala) c.41609G>C (p.Gly13870Ala) c.38651G>C (p.Gly12884Ala) c.20267G>C (p.Gly6756Ala) c.41762G>C (p.Gly13921Ala) c.41759G>C (p.Gly13920Ala) c.41192G>C (p.Gly13731Ala) c.38534G>C (p.Gly12845Ala) c.38453G>C (p.Gly12818Ala) c.20216G>C (p.Gly6739Ala) c.10070G>C (p.Gly3357Ala) | |
2 | g.178618030C>T | CA349617977 | TTN,TTN-AS1 | c.39617G>A (p.Gly13206Asp) c.20702G>A (p.Gly6901Asp) c.20501G>A (p.Gly6834Asp) c.20126G>A (p.Gly6709Asp) c.47321G>A (p.Gly15774Asp) c.42398G>A (p.Gly14133Asp) n.1605-1723C>T c.46418G>A (p.Gly15473Asp) c.20312G>A (p.Gly6771Asp) c.20171G>A (p.Gly6724Asp) c.46214G>A (p.Gly15405Asp) c.41612G>A (p.Gly13871Asp) c.41609G>A (p.Gly13870Asp) c.38651G>A (p.Gly12884Asp) c.20267G>A (p.Gly6756Asp) c.41762G>A (p.Gly13921Asp) c.41759G>A (p.Gly13920Asp) c.41192G>A (p.Gly13731Asp) c.38534G>A (p.Gly12845Asp) c.38453G>A (p.Gly12818Asp) c.20216G>A (p.Gly6739Asp) c.10070G>A (p.Gly3357Asp) | |
2 | g.178618031C>A | CA349617989 | TTN,TTN-AS1 | c.39616G>T (p.Gly13206Cys) c.20701G>T (p.Gly6901Cys) c.20500G>T (p.Gly6834Cys) c.20125G>T (p.Gly6709Cys) c.47320G>T (p.Gly15774Cys) c.42397G>T (p.Gly14133Cys) n.1605-1722C>A c.46417G>T (p.Gly15473Cys) c.20311G>T (p.Gly6771Cys) c.20170G>T (p.Gly6724Cys) c.46213G>T (p.Gly15405Cys) c.41611G>T (p.Gly13871Cys) c.41608G>T (p.Gly13870Cys) c.38650G>T (p.Gly12884Cys) c.20266G>T (p.Gly6756Cys) c.41761G>T (p.Gly13921Cys) c.41758G>T (p.Gly13920Cys) c.41191G>T (p.Gly13731Cys) c.38533G>T (p.Gly12845Cys) c.38452G>T (p.Gly12818Cys) c.20215G>T (p.Gly6739Cys) c.10069G>T (p.Gly3357Cys) | |
2 | g.178618031C>G | CA349617990 | TTN,TTN-AS1 | c.39616G>C (p.Gly13206Arg) c.20701G>C (p.Gly6901Arg) c.20500G>C (p.Gly6834Arg) c.20125G>C (p.Gly6709Arg) c.47320G>C (p.Gly15774Arg) c.42397G>C (p.Gly14133Arg) n.1605-1722C>G c.46417G>C (p.Gly15473Arg) c.20311G>C (p.Gly6771Arg) c.20170G>C (p.Gly6724Arg) c.46213G>C (p.Gly15405Arg) c.41611G>C (p.Gly13871Arg) c.41608G>C (p.Gly13870Arg) c.38650G>C (p.Gly12884Arg) c.20266G>C (p.Gly6756Arg) c.41761G>C (p.Gly13921Arg) c.41758G>C (p.Gly13920Arg) c.41191G>C (p.Gly13731Arg) c.38533G>C (p.Gly12845Arg) c.38452G>C (p.Gly12818Arg) c.20215G>C (p.Gly6739Arg) c.10069G>C (p.Gly3357Arg) | |
2 | g.178618031C>T | CA349617993 | TTN,TTN-AS1 | c.39616G>A (p.Gly13206Ser) c.20701G>A (p.Gly6901Ser) c.20500G>A (p.Gly6834Ser) c.20125G>A (p.Gly6709Ser) c.47320G>A (p.Gly15774Ser) c.42397G>A (p.Gly14133Ser) n.1605-1722C>T c.46417G>A (p.Gly15473Ser) c.20311G>A (p.Gly6771Ser) c.20170G>A (p.Gly6724Ser) c.46213G>A (p.Gly15405Ser) c.41611G>A (p.Gly13871Ser) c.41608G>A (p.Gly13870Ser) c.38650G>A (p.Gly12884Ser) c.20266G>A (p.Gly6756Ser) c.41761G>A (p.Gly13921Ser) c.41758G>A (p.Gly13920Ser) c.41191G>A (p.Gly13731Ser) c.38533G>A (p.Gly12845Ser) c.38452G>A (p.Gly12818Ser) c.20215G>A (p.Gly6739Ser) c.10069G>A (p.Gly3357Ser) | |
2 | g.178618032A>C | CA349617996 | TTN,TTN-AS1 | c.39615T>G (p.Phe13205Leu) c.20700T>G (p.Phe6900Leu) c.20499T>G (p.Phe6833Leu) c.20124T>G (p.Phe6708Leu) c.47319T>G (p.Phe15773Leu) c.42396T>G (p.Phe14132Leu) n.1605-1721A>C c.46416T>G (p.Phe15472Leu) c.20310T>G (p.Phe6770Leu) c.20169T>G (p.Phe6723Leu) c.46212T>G (p.Phe15404Leu) c.41610T>G (p.Phe13870Leu) c.41607T>G (p.Phe13869Leu) c.38649T>G (p.Phe12883Leu) c.20265T>G (p.Phe6755Leu) c.41760T>G (p.Phe13920Leu) c.41757T>G (p.Phe13919Leu) c.41190T>G (p.Phe13730Leu) c.38532T>G (p.Phe12844Leu) c.38451T>G (p.Phe12817Leu) c.20214T>G (p.Phe6738Leu) c.10068T>G (p.Phe3356Leu) | |
2 | g.178618032A>G | CA430274382 | TTN,TTN-AS1 | c.39615T>C (p.Phe13205=) c.20700T>C (p.Phe6900=) c.20499T>C (p.Phe6833=) c.20124T>C (p.Phe6708=) c.47319T>C (p.Phe15773=) c.42396T>C (p.Phe14132=) n.1605-1721A>G c.46416T>C (p.Phe15472=) c.20310T>C (p.Phe6770=) c.20169T>C (p.Phe6723=) c.46212T>C (p.Phe15404=) c.41610T>C (p.Phe13870=) c.41607T>C (p.Phe13869=) c.38649T>C (p.Phe12883=) c.20265T>C (p.Phe6755=) c.41760T>C (p.Phe13920=) c.41757T>C (p.Phe13919=) c.41190T>C (p.Phe13730=) c.38532T>C (p.Phe12844=) c.38451T>C (p.Phe12817=) c.20214T>C (p.Phe6738=) c.10068T>C (p.Phe3356=) | |
2 | g.178618032A>T | CA349617999 | TTN,TTN-AS1 | c.39615T>A (p.Phe13205Leu) c.20700T>A (p.Phe6900Leu) c.20499T>A (p.Phe6833Leu) c.20124T>A (p.Phe6708Leu) c.47319T>A (p.Phe15773Leu) c.42396T>A (p.Phe14132Leu) n.1605-1721A>T c.46416T>A (p.Phe15472Leu) c.20310T>A (p.Phe6770Leu) c.20169T>A (p.Phe6723Leu) c.46212T>A (p.Phe15404Leu) c.41610T>A (p.Phe13870Leu) c.41607T>A (p.Phe13869Leu) c.38649T>A (p.Phe12883Leu) c.20265T>A (p.Phe6755Leu) c.41760T>A (p.Phe13920Leu) c.41757T>A (p.Phe13919Leu) c.41190T>A (p.Phe13730Leu) c.38532T>A (p.Phe12844Leu) c.38451T>A (p.Phe12817Leu) c.20214T>A (p.Phe6738Leu) c.10068T>A (p.Phe3356Leu) | |
2 | g.178618033A>C | CA349618003 | TTN,TTN-AS1 | c.39614T>G (p.Phe13205Cys) c.20699T>G (p.Phe6900Cys) c.20498T>G (p.Phe6833Cys) c.20123T>G (p.Phe6708Cys) c.47318T>G (p.Phe15773Cys) c.42395T>G (p.Phe14132Cys) n.1605-1720A>C c.46415T>G (p.Phe15472Cys) c.20309T>G (p.Phe6770Cys) c.20168T>G (p.Phe6723Cys) c.46211T>G (p.Phe15404Cys) c.41609T>G (p.Phe13870Cys) c.41606T>G (p.Phe13869Cys) c.38648T>G (p.Phe12883Cys) c.20264T>G (p.Phe6755Cys) c.41759T>G (p.Phe13920Cys) c.41756T>G (p.Phe13919Cys) c.41189T>G (p.Phe13730Cys) c.38531T>G (p.Phe12844Cys) c.38450T>G (p.Phe12817Cys) c.20213T>G (p.Phe6738Cys) c.10067T>G (p.Phe3356Cys) | |
2 | g.178618033A>G | CA349618006 | TTN,TTN-AS1 | c.39614T>C (p.Phe13205Ser) c.20699T>C (p.Phe6900Ser) c.20498T>C (p.Phe6833Ser) c.20123T>C (p.Phe6708Ser) c.47318T>C (p.Phe15773Ser) c.42395T>C (p.Phe14132Ser) n.1605-1720A>G c.46415T>C (p.Phe15472Ser) c.20309T>C (p.Phe6770Ser) c.20168T>C (p.Phe6723Ser) c.46211T>C (p.Phe15404Ser) c.41609T>C (p.Phe13870Ser) c.41606T>C (p.Phe13869Ser) c.38648T>C (p.Phe12883Ser) c.20264T>C (p.Phe6755Ser) c.41759T>C (p.Phe13920Ser) c.41756T>C (p.Phe13919Ser) c.41189T>C (p.Phe13730Ser) c.38531T>C (p.Phe12844Ser) c.38450T>C (p.Phe12817Ser) c.20213T>C (p.Phe6738Ser) c.10067T>C (p.Phe3356Ser) | |
2 | g.178618033A>T | CA349618009 | TTN,TTN-AS1 | c.39614T>A (p.Phe13205Tyr) c.20699T>A (p.Phe6900Tyr) c.20498T>A (p.Phe6833Tyr) c.20123T>A (p.Phe6708Tyr) c.47318T>A (p.Phe15773Tyr) c.42395T>A (p.Phe14132Tyr) n.1605-1720A>T c.46415T>A (p.Phe15472Tyr) c.20309T>A (p.Phe6770Tyr) c.20168T>A (p.Phe6723Tyr) c.46211T>A (p.Phe15404Tyr) c.41609T>A (p.Phe13870Tyr) c.41606T>A (p.Phe13869Tyr) c.38648T>A (p.Phe12883Tyr) c.20264T>A (p.Phe6755Tyr) c.41759T>A (p.Phe13920Tyr) c.41756T>A (p.Phe13919Tyr) c.41189T>A (p.Phe13730Tyr) c.38531T>A (p.Phe12844Tyr) c.38450T>A (p.Phe12817Tyr) c.20213T>A (p.Phe6738Tyr) c.10067T>A (p.Phe3356Tyr) | gnomAD v4 |
2 | g.178618034A>C | CA349618016 | TTN,TTN-AS1 | c.39613T>G (p.Phe13205Val) c.20698T>G (p.Phe6900Val) c.20497T>G (p.Phe6833Val) c.20122T>G (p.Phe6708Val) c.47317T>G (p.Phe15773Val) c.42394T>G (p.Phe14132Val) n.1605-1719A>C c.46414T>G (p.Phe15472Val) c.20308T>G (p.Phe6770Val) c.20167T>G (p.Phe6723Val) c.46210T>G (p.Phe15404Val) c.41608T>G (p.Phe13870Val) c.41605T>G (p.Phe13869Val) c.38647T>G (p.Phe12883Val) c.20263T>G (p.Phe6755Val) c.41758T>G (p.Phe13920Val) c.41755T>G (p.Phe13919Val) c.41188T>G (p.Phe13730Val) c.38530T>G (p.Phe12844Val) c.38449T>G (p.Phe12817Val) c.20212T>G (p.Phe6738Val) c.10066T>G (p.Phe3356Val) | |
2 | g.178618034A>G | CA349618019 | TTN,TTN-AS1 | c.39613T>C (p.Phe13205Leu) c.20698T>C (p.Phe6900Leu) c.20497T>C (p.Phe6833Leu) c.20122T>C (p.Phe6708Leu) c.47317T>C (p.Phe15773Leu) c.42394T>C (p.Phe14132Leu) n.1605-1719A>G c.46414T>C (p.Phe15472Leu) c.20308T>C (p.Phe6770Leu) c.20167T>C (p.Phe6723Leu) c.46210T>C (p.Phe15404Leu) c.41608T>C (p.Phe13870Leu) c.41605T>C (p.Phe13869Leu) c.38647T>C (p.Phe12883Leu) c.20263T>C (p.Phe6755Leu) c.41758T>C (p.Phe13920Leu) c.41755T>C (p.Phe13919Leu) c.41188T>C (p.Phe13730Leu) c.38530T>C (p.Phe12844Leu) c.38449T>C (p.Phe12817Leu) c.20212T>C (p.Phe6738Leu) c.10066T>C (p.Phe3356Leu) | |
2 | g.178618034A>T | CA349618022 | TTN,TTN-AS1 | c.39613T>A (p.Phe13205Ile) c.20698T>A (p.Phe6900Ile) c.20497T>A (p.Phe6833Ile) c.20122T>A (p.Phe6708Ile) c.47317T>A (p.Phe15773Ile) c.42394T>A (p.Phe14132Ile) n.1605-1719A>T c.46414T>A (p.Phe15472Ile) c.20308T>A (p.Phe6770Ile) c.20167T>A (p.Phe6723Ile) c.46210T>A (p.Phe15404Ile) c.41608T>A (p.Phe13870Ile) c.41605T>A (p.Phe13869Ile) c.38647T>A (p.Phe12883Ile) c.20263T>A (p.Phe6755Ile) c.41758T>A (p.Phe13920Ile) c.41755T>A (p.Phe13919Ile) c.41188T>A (p.Phe13730Ile) c.38530T>A (p.Phe12844Ile) c.38449T>A (p.Phe12817Ile) c.20212T>A (p.Phe6738Ile) c.10066T>A (p.Phe3356Ile) | |
2 | g.178618035T>A | CA430274400 | TTN,TTN-AS1 | c.39612A>T (p.Arg13204=) c.20697A>T (p.Arg6899=) c.20496A>T (p.Arg6832=) c.20121A>T (p.Arg6707=) c.47316A>T (p.Arg15772=) c.42393A>T (p.Arg14131=) n.1605-1718T>A c.46413A>T (p.Arg15471=) c.20307A>T (p.Arg6769=) c.20166A>T (p.Arg6722=) c.46209A>T (p.Arg15403=) c.41607A>T (p.Arg13869=) c.41604A>T (p.Arg13868=) c.38646A>T (p.Arg12882=) c.20262A>T (p.Arg6754=) c.41757A>T (p.Arg13919=) c.41754A>T (p.Arg13918=) c.41187A>T (p.Arg13729=) c.38529A>T (p.Arg12843=) c.38448A>T (p.Arg12816=) c.20211A>T (p.Arg6737=) c.10065A>T (p.Arg3355=) | |
2 | g.178618035T>C | CA1995065 | TTN,TTN-AS1 | c.39612A>G (p.Arg13204=) c.20697A>G (p.Arg6899=) c.20496A>G (p.Arg6832=) c.20121A>G (p.Arg6707=) c.47316A>G (p.Arg15772=) c.42393A>G (p.Arg14131=) n.1605-1718T>C c.46413A>G (p.Arg15471=) c.20307A>G (p.Arg6769=) c.20166A>G (p.Arg6722=) c.46209A>G (p.Arg15403=) c.41607A>G (p.Arg13869=) c.41604A>G (p.Arg13868=) c.38646A>G (p.Arg12882=) c.20262A>G (p.Arg6754=) c.41757A>G (p.Arg13919=) c.41754A>G (p.Arg13918=) c.41187A>G (p.Arg13729=) c.38529A>G (p.Arg12843=) c.38448A>G (p.Arg12816=) c.20211A>G (p.Arg6737=) c.10065A>G (p.Arg3355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618035T>G | CA430274405 | TTN,TTN-AS1 | c.39612A>C (p.Arg13204=) c.20697A>C (p.Arg6899=) c.20496A>C (p.Arg6832=) c.20121A>C (p.Arg6707=) c.47316A>C (p.Arg15772=) c.42393A>C (p.Arg14131=) n.1605-1718T>G c.46413A>C (p.Arg15471=) c.20307A>C (p.Arg6769=) c.20166A>C (p.Arg6722=) c.46209A>C (p.Arg15403=) c.41607A>C (p.Arg13869=) c.41604A>C (p.Arg13868=) c.38646A>C (p.Arg12882=) c.20262A>C (p.Arg6754=) c.41757A>C (p.Arg13919=) c.41754A>C (p.Arg13918=) c.41187A>C (p.Arg13729=) c.38529A>C (p.Arg12843=) c.38448A>C (p.Arg12816=) c.20211A>C (p.Arg6737=) c.10065A>C (p.Arg3355=) | |
2 | g.178618035T= | CA1310550884 | TTN,TTN-AS1 | c.39612A= (p.Arg13204=) c.20697A= (p.Arg6899=) c.20496A= (p.Arg6832=) c.20121A= (p.Arg6707=) c.47316A= (p.Arg15772=) c.42393A= (p.Arg14131=) n.1605-1718T= c.46413A= (p.Arg15471=) c.20307A= (p.Arg6769=) c.20166A= (p.Arg6722=) c.46209A= (p.Arg15403=) c.41607A= (p.Arg13869=) c.41604A= (p.Arg13868=) c.38646A= (p.Arg12882=) c.20262A= (p.Arg6754=) c.41757A= (p.Arg13919=) c.41754A= (p.Arg13918=) c.41187A= (p.Arg13729=) c.38529A= (p.Arg12843=) c.38448A= (p.Arg12816=) c.20211A= (p.Arg6737=) c.10065A= (p.Arg3355=) | |
2 | g.178618036C>A | CA349618028 | TTN,TTN-AS1 | c.39611G>T (p.Arg13204Leu) c.20696G>T (p.Arg6899Leu) c.20495G>T (p.Arg6832Leu) c.20120G>T (p.Arg6707Leu) c.47315G>T (p.Arg15772Leu) c.42392G>T (p.Arg14131Leu) n.1605-1717C>A c.46412G>T (p.Arg15471Leu) c.20306G>T (p.Arg6769Leu) c.20165G>T (p.Arg6722Leu) c.46208G>T (p.Arg15403Leu) c.41606G>T (p.Arg13869Leu) c.41603G>T (p.Arg13868Leu) c.38645G>T (p.Arg12882Leu) c.20261G>T (p.Arg6754Leu) c.41756G>T (p.Arg13919Leu) c.41753G>T (p.Arg13918Leu) c.41186G>T (p.Arg13729Leu) c.38528G>T (p.Arg12843Leu) c.38447G>T (p.Arg12816Leu) c.20210G>T (p.Arg6737Leu) c.10064G>T (p.Arg3355Leu) | gnomAD v4 |
2 | g.178618036C= | CA1310550885 | TTN,TTN-AS1 | c.39611G= (p.Arg13204=) c.20696G= (p.Arg6899=) c.20495G= (p.Arg6832=) c.20120G= (p.Arg6707=) c.47315G= (p.Arg15772=) c.42392G= (p.Arg14131=) n.1605-1717C= c.46412G= (p.Arg15471=) c.20306G= (p.Arg6769=) c.20165G= (p.Arg6722=) c.46208G= (p.Arg15403=) c.41606G= (p.Arg13869=) c.41603G= (p.Arg13868=) c.38645G= (p.Arg12882=) c.20261G= (p.Arg6754=) c.41756G= (p.Arg13919=) c.41753G= (p.Arg13918=) c.41186G= (p.Arg13729=) c.38528G= (p.Arg12843=) c.38447G= (p.Arg12816=) c.20210G= (p.Arg6737=) c.10064G= (p.Arg3355=) | |
2 | g.178618036C>G | CA349618032 | TTN,TTN-AS1 | c.39611G>C (p.Arg13204Pro) c.20696G>C (p.Arg6899Pro) c.20495G>C (p.Arg6832Pro) c.20120G>C (p.Arg6707Pro) c.47315G>C (p.Arg15772Pro) c.42392G>C (p.Arg14131Pro) n.1605-1717C>G c.46412G>C (p.Arg15471Pro) c.20306G>C (p.Arg6769Pro) c.20165G>C (p.Arg6722Pro) c.46208G>C (p.Arg15403Pro) c.41606G>C (p.Arg13869Pro) c.41603G>C (p.Arg13868Pro) c.38645G>C (p.Arg12882Pro) c.20261G>C (p.Arg6754Pro) c.41756G>C (p.Arg13919Pro) c.41753G>C (p.Arg13918Pro) c.41186G>C (p.Arg13729Pro) c.38528G>C (p.Arg12843Pro) c.38447G>C (p.Arg12816Pro) c.20210G>C (p.Arg6737Pro) c.10064G>C (p.Arg3355Pro) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178618036C>T | CA139757 | TTN,TTN-AS1 | c.39611G>A (p.Arg13204Gln) c.20696G>A (p.Arg6899Gln) c.20495G>A (p.Arg6832Gln) c.20120G>A (p.Arg6707Gln) c.47315G>A (p.Arg15772Gln) c.42392G>A (p.Arg14131Gln) n.1605-1717C>T c.46412G>A (p.Arg15471Gln) c.20306G>A (p.Arg6769Gln) c.20165G>A (p.Arg6722Gln) c.46208G>A (p.Arg15403Gln) c.41606G>A (p.Arg13869Gln) c.41603G>A (p.Arg13868Gln) c.38645G>A (p.Arg12882Gln) c.20261G>A (p.Arg6754Gln) c.41756G>A (p.Arg13919Gln) c.41753G>A (p.Arg13918Gln) c.41186G>A (p.Arg13729Gln) c.38528G>A (p.Arg12843Gln) c.38447G>A (p.Arg12816Gln) c.20210G>A (p.Arg6737Gln) c.10064G>A (p.Arg3355Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618037G>A | CA349618035 | TTN,TTN-AS1 | c.39610C>T (p.Arg13204Ter) c.20695C>T (p.Arg6899Ter) c.20494C>T (p.Arg6832Ter) c.20119C>T (p.Arg6707Ter) c.47314C>T (p.Arg15772Ter) c.42391C>T (p.Arg14131Ter) n.1605-1716G>A c.46411C>T (p.Arg15471Ter) c.20305C>T (p.Arg6769Ter) c.20164C>T (p.Arg6722Ter) c.46207C>T (p.Arg15403Ter) c.41605C>T (p.Arg13869Ter) c.41602C>T (p.Arg13868Ter) c.38644C>T (p.Arg12882Ter) c.20260C>T (p.Arg6754Ter) c.41755C>T (p.Arg13919Ter) c.41752C>T (p.Arg13918Ter) c.41185C>T (p.Arg13729Ter) c.38527C>T (p.Arg12843Ter) c.38446C>T (p.Arg12816Ter) c.20209C>T (p.Arg6737Ter) c.10063C>T (p.Arg3355Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178618037G>C | CA349618037 | TTN,TTN-AS1 | c.39610C>G (p.Arg13204Gly) c.20695C>G (p.Arg6899Gly) c.20494C>G (p.Arg6832Gly) c.20119C>G (p.Arg6707Gly) c.47314C>G (p.Arg15772Gly) c.42391C>G (p.Arg14131Gly) n.1605-1716G>C c.46411C>G (p.Arg15471Gly) c.20305C>G (p.Arg6769Gly) c.20164C>G (p.Arg6722Gly) c.46207C>G (p.Arg15403Gly) c.41605C>G (p.Arg13869Gly) c.41602C>G (p.Arg13868Gly) c.38644C>G (p.Arg12882Gly) c.20260C>G (p.Arg6754Gly) c.41755C>G (p.Arg13919Gly) c.41752C>G (p.Arg13918Gly) c.41185C>G (p.Arg13729Gly) c.38527C>G (p.Arg12843Gly) c.38446C>G (p.Arg12816Gly) c.20209C>G (p.Arg6737Gly) c.10063C>G (p.Arg3355Gly) | |
2 | g.178618037G>T | CA430274414 | TTN,TTN-AS1 | c.39610C>A (p.Arg13204=) c.20695C>A (p.Arg6899=) c.20494C>A (p.Arg6832=) c.20119C>A (p.Arg6707=) c.47314C>A (p.Arg15772=) c.42391C>A (p.Arg14131=) n.1605-1716G>T c.46411C>A (p.Arg15471=) c.20305C>A (p.Arg6769=) c.20164C>A (p.Arg6722=) c.46207C>A (p.Arg15403=) c.41605C>A (p.Arg13869=) c.41602C>A (p.Arg13868=) c.38644C>A (p.Arg12882=) c.20260C>A (p.Arg6754=) c.41755C>A (p.Arg13919=) c.41752C>A (p.Arg13918=) c.41185C>A (p.Arg13729=) c.38527C>A (p.Arg12843=) c.38446C>A (p.Arg12816=) c.20209C>A (p.Arg6737=) c.10063C>A (p.Arg3355=) | COSMIC COSMIC COSMIC |
2 | g.178618038A>C | CA349618040 | TTN,TTN-AS1 | c.39609T>G (p.Asn13203Lys) c.20694T>G (p.Asn6898Lys) c.20493T>G (p.Asn6831Lys) c.20118T>G (p.Asn6706Lys) c.47313T>G (p.Asn15771Lys) c.42390T>G (p.Asn14130Lys) n.1605-1715A>C c.46410T>G (p.Asn15470Lys) c.20304T>G (p.Asn6768Lys) c.20163T>G (p.Asn6721Lys) c.46206T>G (p.Asn15402Lys) c.41604T>G (p.Asn13868Lys) c.41601T>G (p.Asn13867Lys) c.38643T>G (p.Asn12881Lys) c.20259T>G (p.Asn6753Lys) c.41754T>G (p.Asn13918Lys) c.41751T>G (p.Asn13917Lys) c.41184T>G (p.Asn13728Lys) c.38526T>G (p.Asn12842Lys) c.38445T>G (p.Asn12815Lys) c.20208T>G (p.Asn6736Lys) c.10062T>G (p.Asn3354Lys) | |
2 | g.178618038A>G | CA430274417 | TTN,TTN-AS1 | c.39609T>C (p.Asn13203=) c.20694T>C (p.Asn6898=) c.20493T>C (p.Asn6831=) c.20118T>C (p.Asn6706=) c.47313T>C (p.Asn15771=) c.42390T>C (p.Asn14130=) n.1605-1715A>G c.46410T>C (p.Asn15470=) c.20304T>C (p.Asn6768=) c.20163T>C (p.Asn6721=) c.46206T>C (p.Asn15402=) c.41604T>C (p.Asn13868=) c.41601T>C (p.Asn13867=) c.38643T>C (p.Asn12881=) c.20259T>C (p.Asn6753=) c.41754T>C (p.Asn13918=) c.41751T>C (p.Asn13917=) c.41184T>C (p.Asn13728=) c.38526T>C (p.Asn12842=) c.38445T>C (p.Asn12815=) c.20208T>C (p.Asn6736=) c.10062T>C (p.Asn3354=) | |
2 | g.178618038A>T | CA349618043 | TTN,TTN-AS1 | c.39609T>A (p.Asn13203Lys) c.20694T>A (p.Asn6898Lys) c.20493T>A (p.Asn6831Lys) c.20118T>A (p.Asn6706Lys) c.47313T>A (p.Asn15771Lys) c.42390T>A (p.Asn14130Lys) n.1605-1715A>T c.46410T>A (p.Asn15470Lys) c.20304T>A (p.Asn6768Lys) c.20163T>A (p.Asn6721Lys) c.46206T>A (p.Asn15402Lys) c.41604T>A (p.Asn13868Lys) c.41601T>A (p.Asn13867Lys) c.38643T>A (p.Asn12881Lys) c.20259T>A (p.Asn6753Lys) c.41754T>A (p.Asn13918Lys) c.41751T>A (p.Asn13917Lys) c.41184T>A (p.Asn13728Lys) c.38526T>A (p.Asn12842Lys) c.38445T>A (p.Asn12815Lys) c.20208T>A (p.Asn6736Lys) c.10062T>A (p.Asn3354Lys) | |
2 | g.178618039T>A | CA349618046 | TTN,TTN-AS1 | c.39608A>T (p.Asn13203Ile) c.20693A>T (p.Asn6898Ile) c.20492A>T (p.Asn6831Ile) c.20117A>T (p.Asn6706Ile) c.47312A>T (p.Asn15771Ile) c.42389A>T (p.Asn14130Ile) n.1605-1714T>A c.46409A>T (p.Asn15470Ile) c.20303A>T (p.Asn6768Ile) c.20162A>T (p.Asn6721Ile) c.46205A>T (p.Asn15402Ile) c.41603A>T (p.Asn13868Ile) c.41600A>T (p.Asn13867Ile) c.38642A>T (p.Asn12881Ile) c.20258A>T (p.Asn6753Ile) c.41753A>T (p.Asn13918Ile) c.41750A>T (p.Asn13917Ile) c.41183A>T (p.Asn13728Ile) c.38525A>T (p.Asn12842Ile) c.38444A>T (p.Asn12815Ile) c.20207A>T (p.Asn6736Ile) c.10061A>T (p.Asn3354Ile) | |
2 | g.178618039T>C | CA349618048 | TTN,TTN-AS1 | c.39608A>G (p.Asn13203Ser) c.20693A>G (p.Asn6898Ser) c.20492A>G (p.Asn6831Ser) c.20117A>G (p.Asn6706Ser) c.47312A>G (p.Asn15771Ser) c.42389A>G (p.Asn14130Ser) n.1605-1714T>C c.46409A>G (p.Asn15470Ser) c.20303A>G (p.Asn6768Ser) c.20162A>G (p.Asn6721Ser) c.46205A>G (p.Asn15402Ser) c.41603A>G (p.Asn13868Ser) c.41600A>G (p.Asn13867Ser) c.38642A>G (p.Asn12881Ser) c.20258A>G (p.Asn6753Ser) c.41753A>G (p.Asn13918Ser) c.41750A>G (p.Asn13917Ser) c.41183A>G (p.Asn13728Ser) c.38525A>G (p.Asn12842Ser) c.38444A>G (p.Asn12815Ser) c.20207A>G (p.Asn6736Ser) c.10061A>G (p.Asn3354Ser) | |
2 | g.178618039T>G | CA349618051 | TTN,TTN-AS1 | c.39608A>C (p.Asn13203Thr) c.20693A>C (p.Asn6898Thr) c.20492A>C (p.Asn6831Thr) c.20117A>C (p.Asn6706Thr) c.47312A>C (p.Asn15771Thr) c.42389A>C (p.Asn14130Thr) n.1605-1714T>G c.46409A>C (p.Asn15470Thr) c.20303A>C (p.Asn6768Thr) c.20162A>C (p.Asn6721Thr) c.46205A>C (p.Asn15402Thr) c.41603A>C (p.Asn13868Thr) c.41600A>C (p.Asn13867Thr) c.38642A>C (p.Asn12881Thr) c.20258A>C (p.Asn6753Thr) c.41753A>C (p.Asn13918Thr) c.41750A>C (p.Asn13917Thr) c.41183A>C (p.Asn13728Thr) c.38525A>C (p.Asn12842Thr) c.38444A>C (p.Asn12815Thr) c.20207A>C (p.Asn6736Thr) c.10061A>C (p.Asn3354Thr) | |
2 | g.178618040T>A | CA349618055 | TTN,TTN-AS1 | c.39607A>T (p.Asn13203Tyr) c.20692A>T (p.Asn6898Tyr) c.20491A>T (p.Asn6831Tyr) c.20116A>T (p.Asn6706Tyr) c.47311A>T (p.Asn15771Tyr) c.42388A>T (p.Asn14130Tyr) n.1605-1713T>A c.46408A>T (p.Asn15470Tyr) c.20302A>T (p.Asn6768Tyr) c.20161A>T (p.Asn6721Tyr) c.46204A>T (p.Asn15402Tyr) c.41602A>T (p.Asn13868Tyr) c.41599A>T (p.Asn13867Tyr) c.38641A>T (p.Asn12881Tyr) c.20257A>T (p.Asn6753Tyr) c.41752A>T (p.Asn13918Tyr) c.41749A>T (p.Asn13917Tyr) c.41182A>T (p.Asn13728Tyr) c.38524A>T (p.Asn12842Tyr) c.38443A>T (p.Asn12815Tyr) c.20206A>T (p.Asn6736Tyr) c.10060A>T (p.Asn3354Tyr) | |
2 | g.178618040T>C | CA1995066 | TTN,TTN-AS1 | c.39607A>G (p.Asn13203Asp) c.20692A>G (p.Asn6898Asp) c.20491A>G (p.Asn6831Asp) c.20116A>G (p.Asn6706Asp) c.47311A>G (p.Asn15771Asp) c.42388A>G (p.Asn14130Asp) n.1605-1713T>C c.46408A>G (p.Asn15470Asp) c.20302A>G (p.Asn6768Asp) c.20161A>G (p.Asn6721Asp) c.46204A>G (p.Asn15402Asp) c.41602A>G (p.Asn13868Asp) c.41599A>G (p.Asn13867Asp) c.38641A>G (p.Asn12881Asp) c.20257A>G (p.Asn6753Asp) c.41752A>G (p.Asn13918Asp) c.41749A>G (p.Asn13917Asp) c.41182A>G (p.Asn13728Asp) c.38524A>G (p.Asn12842Asp) c.38443A>G (p.Asn12815Asp) c.20206A>G (p.Asn6736Asp) c.10060A>G (p.Asn3354Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618040T>G | CA349618061 | TTN,TTN-AS1 | c.39607A>C (p.Asn13203His) c.20692A>C (p.Asn6898His) c.20491A>C (p.Asn6831His) c.20116A>C (p.Asn6706His) c.47311A>C (p.Asn15771His) c.42388A>C (p.Asn14130His) n.1605-1713T>G c.46408A>C (p.Asn15470His) c.20302A>C (p.Asn6768His) c.20161A>C (p.Asn6721His) c.46204A>C (p.Asn15402His) c.41602A>C (p.Asn13868His) c.41599A>C (p.Asn13867His) c.38641A>C (p.Asn12881His) c.20257A>C (p.Asn6753His) c.41752A>C (p.Asn13918His) c.41749A>C (p.Asn13917His) c.41182A>C (p.Asn13728His) c.38524A>C (p.Asn12842His) c.38443A>C (p.Asn12815His) c.20206A>C (p.Asn6736His) c.10060A>C (p.Asn3354His) | |
2 | g.178618040T= | CA1310550886 | TTN,TTN-AS1 | c.39607A= (p.Asn13203=) c.20692A= (p.Asn6898=) c.20491A= (p.Asn6831=) c.20116A= (p.Asn6706=) c.47311A= (p.Asn15771=) c.42388A= (p.Asn14130=) n.1605-1713T= c.46408A= (p.Asn15470=) c.20302A= (p.Asn6768=) c.20161A= (p.Asn6721=) c.46204A= (p.Asn15402=) c.41602A= (p.Asn13868=) c.41599A= (p.Asn13867=) c.38641A= (p.Asn12881=) c.20257A= (p.Asn6753=) c.41752A= (p.Asn13918=) c.41749A= (p.Asn13917=) c.41182A= (p.Asn13728=) c.38524A= (p.Asn12842=) c.38443A= (p.Asn12815=) c.20206A= (p.Asn6736=) c.10060A= (p.Asn3354=) | |
2 | g.178618041C>A | CA430274425 | TTN,TTN-AS1 | c.39606G>T (p.Val13202=) c.20691G>T (p.Val6897=) c.20490G>T (p.Val6830=) c.20115G>T (p.Val6705=) c.47310G>T (p.Val15770=) c.42387G>T (p.Val14129=) n.1605-1712C>A c.46407G>T (p.Val15469=) c.20301G>T (p.Val6767=) c.20160G>T (p.Val6720=) c.46203G>T (p.Val15401=) c.41601G>T (p.Val13867=) c.41598G>T (p.Val13866=) c.38640G>T (p.Val12880=) c.20256G>T (p.Val6752=) c.41751G>T (p.Val13917=) c.41748G>T (p.Val13916=) c.41181G>T (p.Val13727=) c.38523G>T (p.Val12841=) c.38442G>T (p.Val12814=) c.20205G>T (p.Val6735=) c.10059G>T (p.Val3353=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178618041C>G | CA430274427 | TTN,TTN-AS1 | c.39606G>C (p.Val13202=) c.20691G>C (p.Val6897=) c.20490G>C (p.Val6830=) c.20115G>C (p.Val6705=) c.47310G>C (p.Val15770=) c.42387G>C (p.Val14129=) n.1605-1712C>G c.46407G>C (p.Val15469=) c.20301G>C (p.Val6767=) c.20160G>C (p.Val6720=) c.46203G>C (p.Val15401=) c.41601G>C (p.Val13867=) c.41598G>C (p.Val13866=) c.38640G>C (p.Val12880=) c.20256G>C (p.Val6752=) c.41751G>C (p.Val13917=) c.41748G>C (p.Val13916=) c.41181G>C (p.Val13727=) c.38523G>C (p.Val12841=) c.38442G>C (p.Val12814=) c.20205G>C (p.Val6735=) c.10059G>C (p.Val3353=) | |
2 | g.178618041C>T | CA430274429 | TTN,TTN-AS1 | c.39606G>A (p.Val13202=) c.20691G>A (p.Val6897=) c.20490G>A (p.Val6830=) c.20115G>A (p.Val6705=) c.47310G>A (p.Val15770=) c.42387G>A (p.Val14129=) n.1605-1712C>T c.46407G>A (p.Val15469=) c.20301G>A (p.Val6767=) c.20160G>A (p.Val6720=) c.46203G>A (p.Val15401=) c.41601G>A (p.Val13867=) c.41598G>A (p.Val13866=) c.38640G>A (p.Val12880=) c.20256G>A (p.Val6752=) c.41751G>A (p.Val13917=) c.41748G>A (p.Val13916=) c.41181G>A (p.Val13727=) c.38523G>A (p.Val12841=) c.38442G>A (p.Val12814=) c.20205G>A (p.Val6735=) c.10059G>A (p.Val3353=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178618042A>C | CA349618066 | TTN,TTN-AS1 | c.39605T>G (p.Val13202Gly) c.20690T>G (p.Val6897Gly) c.20489T>G (p.Val6830Gly) c.20114T>G (p.Val6705Gly) c.47309T>G (p.Val15770Gly) c.42386T>G (p.Val14129Gly) n.1605-1711A>C c.46406T>G (p.Val15469Gly) c.20300T>G (p.Val6767Gly) c.20159T>G (p.Val6720Gly) c.46202T>G (p.Val15401Gly) c.41600T>G (p.Val13867Gly) c.41597T>G (p.Val13866Gly) c.38639T>G (p.Val12880Gly) c.20255T>G (p.Val6752Gly) c.41750T>G (p.Val13917Gly) c.41747T>G (p.Val13916Gly) c.41180T>G (p.Val13727Gly) c.38522T>G (p.Val12841Gly) c.38441T>G (p.Val12814Gly) c.20204T>G (p.Val6735Gly) c.10058T>G (p.Val3353Gly) | gnomAD v4 |
2 | g.178618042A>G | CA349618069 | TTN,TTN-AS1 | c.39605T>C (p.Val13202Ala) c.20690T>C (p.Val6897Ala) c.20489T>C (p.Val6830Ala) c.20114T>C (p.Val6705Ala) c.47309T>C (p.Val15770Ala) c.42386T>C (p.Val14129Ala) n.1605-1711A>G c.46406T>C (p.Val15469Ala) c.20300T>C (p.Val6767Ala) c.20159T>C (p.Val6720Ala) c.46202T>C (p.Val15401Ala) c.41600T>C (p.Val13867Ala) c.41597T>C (p.Val13866Ala) c.38639T>C (p.Val12880Ala) c.20255T>C (p.Val6752Ala) c.41750T>C (p.Val13917Ala) c.41747T>C (p.Val13916Ala) c.41180T>C (p.Val13727Ala) c.38522T>C (p.Val12841Ala) c.38441T>C (p.Val12814Ala) c.20204T>C (p.Val6735Ala) c.10058T>C (p.Val3353Ala) | |
2 | g.178618042A>T | CA349618063 | TTN,TTN-AS1 | c.39605T>A (p.Val13202Glu) c.20690T>A (p.Val6897Glu) c.20489T>A (p.Val6830Glu) c.20114T>A (p.Val6705Glu) c.47309T>A (p.Val15770Glu) c.42386T>A (p.Val14129Glu) n.1605-1711A>T c.46406T>A (p.Val15469Glu) c.20300T>A (p.Val6767Glu) c.20159T>A (p.Val6720Glu) c.46202T>A (p.Val15401Glu) c.41600T>A (p.Val13867Glu) c.41597T>A (p.Val13866Glu) c.38639T>A (p.Val12880Glu) c.20255T>A (p.Val6752Glu) c.41750T>A (p.Val13917Glu) c.41747T>A (p.Val13916Glu) c.41180T>A (p.Val13727Glu) c.38522T>A (p.Val12841Glu) c.38441T>A (p.Val12814Glu) c.20204T>A (p.Val6735Glu) c.10058T>A (p.Val3353Glu) | |
2 | g.178618043C>A | CA349618071 | TTN,TTN-AS1 | c.39604G>T (p.Val13202Leu) c.20689G>T (p.Val6897Leu) c.20488G>T (p.Val6830Leu) c.20113G>T (p.Val6705Leu) c.47308G>T (p.Val15770Leu) c.42385G>T (p.Val14129Leu) n.1605-1710C>A c.46405G>T (p.Val15469Leu) c.20299G>T (p.Val6767Leu) c.20158G>T (p.Val6720Leu) c.46201G>T (p.Val15401Leu) c.41599G>T (p.Val13867Leu) c.41596G>T (p.Val13866Leu) c.38638G>T (p.Val12880Leu) c.20254G>T (p.Val6752Leu) c.41749G>T (p.Val13917Leu) c.41746G>T (p.Val13916Leu) c.41179G>T (p.Val13727Leu) c.38521G>T (p.Val12841Leu) c.38440G>T (p.Val12814Leu) c.20203G>T (p.Val6735Leu) c.10057G>T (p.Val3353Leu) | |
2 | g.178618043C= | CA1310550887 | TTN,TTN-AS1 | c.39604G= (p.Val13202=) c.20689G= (p.Val6897=) c.20488G= (p.Val6830=) c.20113G= (p.Val6705=) c.47308G= (p.Val15770=) c.42385G= (p.Val14129=) n.1605-1710C= c.46405G= (p.Val15469=) c.20299G= (p.Val6767=) c.20158G= (p.Val6720=) c.46201G= (p.Val15401=) c.41599G= (p.Val13867=) c.41596G= (p.Val13866=) c.38638G= (p.Val12880=) c.20254G= (p.Val6752=) c.41749G= (p.Val13917=) c.41746G= (p.Val13916=) c.41179G= (p.Val13727=) c.38521G= (p.Val12841=) c.38440G= (p.Val12814=) c.20203G= (p.Val6735=) c.10057G= (p.Val3353=) | |
2 | g.178618043C>G | CA349618073 | TTN,TTN-AS1 | c.39604G>C (p.Val13202Leu) c.20689G>C (p.Val6897Leu) c.20488G>C (p.Val6830Leu) c.20113G>C (p.Val6705Leu) c.47308G>C (p.Val15770Leu) c.42385G>C (p.Val14129Leu) n.1605-1710C>G c.46405G>C (p.Val15469Leu) c.20299G>C (p.Val6767Leu) c.20158G>C (p.Val6720Leu) c.46201G>C (p.Val15401Leu) c.41599G>C (p.Val13867Leu) c.41596G>C (p.Val13866Leu) c.38638G>C (p.Val12880Leu) c.20254G>C (p.Val6752Leu) c.41749G>C (p.Val13917Leu) c.41746G>C (p.Val13916Leu) c.41179G>C (p.Val13727Leu) c.38521G>C (p.Val12841Leu) c.38440G>C (p.Val12814Leu) c.20203G>C (p.Val6735Leu) c.10057G>C (p.Val3353Leu) | |
2 | g.178618043C>T | CA60990532 | TTN,TTN-AS1 | c.39604G>A (p.Val13202Met) c.20689G>A (p.Val6897Met) c.20488G>A (p.Val6830Met) c.20113G>A (p.Val6705Met) c.47308G>A (p.Val15770Met) c.42385G>A (p.Val14129Met) n.1605-1710C>T c.46405G>A (p.Val15469Met) c.20299G>A (p.Val6767Met) c.20158G>A (p.Val6720Met) c.46201G>A (p.Val15401Met) c.41599G>A (p.Val13867Met) c.41596G>A (p.Val13866Met) c.38638G>A (p.Val12880Met) c.20254G>A (p.Val6752Met) c.41749G>A (p.Val13917Met) c.41746G>A (p.Val13916Met) c.41179G>A (p.Val13727Met) c.38521G>A (p.Val12841Met) c.38440G>A (p.Val12814Met) c.20203G>A (p.Val6735Met) c.10057G>A (p.Val3353Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618044A= | CA1310550888 | TTN,TTN-AS1 | c.39603T= (p.Asp13201=) c.20688T= (p.Asp6896=) c.20487T= (p.Asp6829=) c.20112T= (p.Asp6704=) c.47307T= (p.Asp15769=) c.42384T= (p.Asp14128=) n.1605-1709A= c.46404T= (p.Asp15468=) c.20298T= (p.Asp6766=) c.20157T= (p.Asp6719=) c.46200T= (p.Asp15400=) c.41598T= (p.Asp13866=) c.41595T= (p.Asp13865=) c.38637T= (p.Asp12879=) c.20253T= (p.Asp6751=) c.41748T= (p.Asp13916=) c.41745T= (p.Asp13915=) c.41178T= (p.Asp13726=) c.38520T= (p.Asp12840=) c.38439T= (p.Asp12813=) c.20202T= (p.Asp6734=) c.10056T= (p.Asp3352=) | |
2 | g.178618044A>C | CA349618077 | TTN,TTN-AS1 | c.39603T>G (p.Asp13201Glu) c.20688T>G (p.Asp6896Glu) c.20487T>G (p.Asp6829Glu) c.20112T>G (p.Asp6704Glu) c.47307T>G (p.Asp15769Glu) c.42384T>G (p.Asp14128Glu) n.1605-1709A>C c.46404T>G (p.Asp15468Glu) c.20298T>G (p.Asp6766Glu) c.20157T>G (p.Asp6719Glu) c.46200T>G (p.Asp15400Glu) c.41598T>G (p.Asp13866Glu) c.41595T>G (p.Asp13865Glu) c.38637T>G (p.Asp12879Glu) c.20253T>G (p.Asp6751Glu) c.41748T>G (p.Asp13916Glu) c.41745T>G (p.Asp13915Glu) c.41178T>G (p.Asp13726Glu) c.38520T>G (p.Asp12840Glu) c.38439T>G (p.Asp12813Glu) c.20202T>G (p.Asp6734Glu) c.10056T>G (p.Asp3352Glu) | |
2 | g.178618044A>G | CA1995067 | TTN,TTN-AS1 | c.39603T>C (p.Asp13201=) c.20688T>C (p.Asp6896=) c.20487T>C (p.Asp6829=) c.20112T>C (p.Asp6704=) c.47307T>C (p.Asp15769=) c.42384T>C (p.Asp14128=) n.1605-1709A>G c.46404T>C (p.Asp15468=) c.20298T>C (p.Asp6766=) c.20157T>C (p.Asp6719=) c.46200T>C (p.Asp15400=) c.41598T>C (p.Asp13866=) c.41595T>C (p.Asp13865=) c.38637T>C (p.Asp12879=) c.20253T>C (p.Asp6751=) c.41748T>C (p.Asp13916=) c.41745T>C (p.Asp13915=) c.41178T>C (p.Asp13726=) c.38520T>C (p.Asp12840=) c.38439T>C (p.Asp12813=) c.20202T>C (p.Asp6734=) c.10056T>C (p.Asp3352=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618044A>T | CA349618080 | TTN,TTN-AS1 | c.39603T>A (p.Asp13201Glu) c.20688T>A (p.Asp6896Glu) c.20487T>A (p.Asp6829Glu) c.20112T>A (p.Asp6704Glu) c.47307T>A (p.Asp15769Glu) c.42384T>A (p.Asp14128Glu) n.1605-1709A>T c.46404T>A (p.Asp15468Glu) c.20298T>A (p.Asp6766Glu) c.20157T>A (p.Asp6719Glu) c.46200T>A (p.Asp15400Glu) c.41598T>A (p.Asp13866Glu) c.41595T>A (p.Asp13865Glu) c.38637T>A (p.Asp12879Glu) c.20253T>A (p.Asp6751Glu) c.41748T>A (p.Asp13916Glu) c.41745T>A (p.Asp13915Glu) c.41178T>A (p.Asp13726Glu) c.38520T>A (p.Asp12840Glu) c.38439T>A (p.Asp12813Glu) c.20202T>A (p.Asp6734Glu) c.10056T>A (p.Asp3352Glu) | |
2 | g.178618045T>A | CA349618084 | TTN,TTN-AS1 | c.39602A>T (p.Asp13201Val) c.20687A>T (p.Asp6896Val) c.20486A>T (p.Asp6829Val) c.20111A>T (p.Asp6704Val) c.47306A>T (p.Asp15769Val) c.42383A>T (p.Asp14128Val) n.1605-1708T>A c.46403A>T (p.Asp15468Val) c.20297A>T (p.Asp6766Val) c.20156A>T (p.Asp6719Val) c.46199A>T (p.Asp15400Val) c.41597A>T (p.Asp13866Val) c.41594A>T (p.Asp13865Val) c.38636A>T (p.Asp12879Val) c.20252A>T (p.Asp6751Val) c.41747A>T (p.Asp13916Val) c.41744A>T (p.Asp13915Val) c.41177A>T (p.Asp13726Val) c.38519A>T (p.Asp12840Val) c.38438A>T (p.Asp12813Val) c.20201A>T (p.Asp6734Val) c.10055A>T (p.Asp3352Val) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178618045T>C | CA349618087 | TTN,TTN-AS1 | c.39602A>G (p.Asp13201Gly) c.20687A>G (p.Asp6896Gly) c.20486A>G (p.Asp6829Gly) c.20111A>G (p.Asp6704Gly) c.47306A>G (p.Asp15769Gly) c.42383A>G (p.Asp14128Gly) n.1605-1708T>C c.46403A>G (p.Asp15468Gly) c.20297A>G (p.Asp6766Gly) c.20156A>G (p.Asp6719Gly) c.46199A>G (p.Asp15400Gly) c.41597A>G (p.Asp13866Gly) c.41594A>G (p.Asp13865Gly) c.38636A>G (p.Asp12879Gly) c.20252A>G (p.Asp6751Gly) c.41747A>G (p.Asp13916Gly) c.41744A>G (p.Asp13915Gly) c.41177A>G (p.Asp13726Gly) c.38519A>G (p.Asp12840Gly) c.38438A>G (p.Asp12813Gly) c.20201A>G (p.Asp6734Gly) c.10055A>G (p.Asp3352Gly) | |
2 | g.178618045T>G | CA349618090 | TTN,TTN-AS1 | c.39602A>C (p.Asp13201Ala) c.20687A>C (p.Asp6896Ala) c.20486A>C (p.Asp6829Ala) c.20111A>C (p.Asp6704Ala) c.47306A>C (p.Asp15769Ala) c.42383A>C (p.Asp14128Ala) n.1605-1708T>G c.46403A>C (p.Asp15468Ala) c.20297A>C (p.Asp6766Ala) c.20156A>C (p.Asp6719Ala) c.46199A>C (p.Asp15400Ala) c.41597A>C (p.Asp13866Ala) c.41594A>C (p.Asp13865Ala) c.38636A>C (p.Asp12879Ala) c.20252A>C (p.Asp6751Ala) c.41747A>C (p.Asp13916Ala) c.41744A>C (p.Asp13915Ala) c.41177A>C (p.Asp13726Ala) c.38519A>C (p.Asp12840Ala) c.38438A>C (p.Asp12813Ala) c.20201A>C (p.Asp6734Ala) c.10055A>C (p.Asp3352Ala) | |
2 | g.178618046C>A | CA349618092 | TTN,TTN-AS1 | c.39601G>T (p.Asp13201Tyr) c.20686G>T (p.Asp6896Tyr) c.20485G>T (p.Asp6829Tyr) c.20110G>T (p.Asp6704Tyr) c.47305G>T (p.Asp15769Tyr) c.42382G>T (p.Asp14128Tyr) n.1605-1707C>A c.46402G>T (p.Asp15468Tyr) c.20296G>T (p.Asp6766Tyr) c.20155G>T (p.Asp6719Tyr) c.46198G>T (p.Asp15400Tyr) c.41596G>T (p.Asp13866Tyr) c.41593G>T (p.Asp13865Tyr) c.38635G>T (p.Asp12879Tyr) c.20251G>T (p.Asp6751Tyr) c.41746G>T (p.Asp13916Tyr) c.41743G>T (p.Asp13915Tyr) c.41176G>T (p.Asp13726Tyr) c.38518G>T (p.Asp12840Tyr) c.38437G>T (p.Asp12813Tyr) c.20200G>T (p.Asp6734Tyr) c.10054G>T (p.Asp3352Tyr) | |
2 | g.178618046C>G | CA349618094 | TTN,TTN-AS1 | c.39601G>C (p.Asp13201His) c.20686G>C (p.Asp6896His) c.20485G>C (p.Asp6829His) c.20110G>C (p.Asp6704His) c.47305G>C (p.Asp15769His) c.42382G>C (p.Asp14128His) n.1605-1707C>G c.46402G>C (p.Asp15468His) c.20296G>C (p.Asp6766His) c.20155G>C (p.Asp6719His) c.46198G>C (p.Asp15400His) c.41596G>C (p.Asp13866His) c.41593G>C (p.Asp13865His) c.38635G>C (p.Asp12879His) c.20251G>C (p.Asp6751His) c.41746G>C (p.Asp13916His) c.41743G>C (p.Asp13915His) c.41176G>C (p.Asp13726His) c.38518G>C (p.Asp12840His) c.38437G>C (p.Asp12813His) c.20200G>C (p.Asp6734His) c.10054G>C (p.Asp3352His) | gnomAD v4 |
2 | g.178618046C>T | CA349618097 | TTN,TTN-AS1 | c.39601G>A (p.Asp13201Asn) c.20686G>A (p.Asp6896Asn) c.20485G>A (p.Asp6829Asn) c.20110G>A (p.Asp6704Asn) c.47305G>A (p.Asp15769Asn) c.42382G>A (p.Asp14128Asn) n.1605-1707C>T c.46402G>A (p.Asp15468Asn) c.20296G>A (p.Asp6766Asn) c.20155G>A (p.Asp6719Asn) c.46198G>A (p.Asp15400Asn) c.41596G>A (p.Asp13866Asn) c.41593G>A (p.Asp13865Asn) c.38635G>A (p.Asp12879Asn) c.20251G>A (p.Asp6751Asn) c.41746G>A (p.Asp13916Asn) c.41743G>A (p.Asp13915Asn) c.41176G>A (p.Asp13726Asn) c.38518G>A (p.Asp12840Asn) c.38437G>A (p.Asp12813Asn) c.20200G>A (p.Asp6734Asn) c.10054G>A (p.Asp3352Asn) | |
2 | g.178618047A>C | CA430274458 | TTN,TTN-AS1 | c.39600T>G (p.Thr13200=) c.20685T>G (p.Thr6895=) c.20484T>G (p.Thr6828=) c.20109T>G (p.Thr6703=) c.47304T>G (p.Thr15768=) c.42381T>G (p.Thr14127=) n.1605-1706A>C c.46401T>G (p.Thr15467=) c.20295T>G (p.Thr6765=) c.20154T>G (p.Thr6718=) c.46197T>G (p.Thr15399=) c.41595T>G (p.Thr13865=) c.41592T>G (p.Thr13864=) c.38634T>G (p.Thr12878=) c.20250T>G (p.Thr6750=) c.41745T>G (p.Thr13915=) c.41742T>G (p.Thr13914=) c.41175T>G (p.Thr13725=) c.38517T>G (p.Thr12839=) c.38436T>G (p.Thr12812=) c.20199T>G (p.Thr6733=) c.10053T>G (p.Thr3351=) | |
2 | g.178618047A>G | CA430274459 | TTN,TTN-AS1 | c.39600T>C (p.Thr13200=) c.20685T>C (p.Thr6895=) c.20484T>C (p.Thr6828=) c.20109T>C (p.Thr6703=) c.47304T>C (p.Thr15768=) c.42381T>C (p.Thr14127=) n.1605-1706A>G c.46401T>C (p.Thr15467=) c.20295T>C (p.Thr6765=) c.20154T>C (p.Thr6718=) c.46197T>C (p.Thr15399=) c.41595T>C (p.Thr13865=) c.41592T>C (p.Thr13864=) c.38634T>C (p.Thr12878=) c.20250T>C (p.Thr6750=) c.41745T>C (p.Thr13915=) c.41742T>C (p.Thr13914=) c.41175T>C (p.Thr13725=) c.38517T>C (p.Thr12839=) c.38436T>C (p.Thr12812=) c.20199T>C (p.Thr6733=) c.10053T>C (p.Thr3351=) | |
2 | g.178618047A>T | CA430274460 | TTN,TTN-AS1 | c.39600T>A (p.Thr13200=) c.20685T>A (p.Thr6895=) c.20484T>A (p.Thr6828=) c.20109T>A (p.Thr6703=) c.47304T>A (p.Thr15768=) c.42381T>A (p.Thr14127=) n.1605-1706A>T c.46401T>A (p.Thr15467=) c.20295T>A (p.Thr6765=) c.20154T>A (p.Thr6718=) c.46197T>A (p.Thr15399=) c.41595T>A (p.Thr13865=) c.41592T>A (p.Thr13864=) c.38634T>A (p.Thr12878=) c.20250T>A (p.Thr6750=) c.41745T>A (p.Thr13915=) c.41742T>A (p.Thr13914=) c.41175T>A (p.Thr13725=) c.38517T>A (p.Thr12839=) c.38436T>A (p.Thr12812=) c.20199T>A (p.Thr6733=) c.10053T>A (p.Thr3351=) | gnomAD v4 |
2 | g.178618047_178618048insAAAAAG | CA2838465905 | TTN,TTN-AS1 | c.39599_39600insCTTTTT (p.Thr13200_Asp13201insPhePhe) c.20684_20685insCTTTTT (p.Thr6895_Asp6896insPhePhe) c.20483_20484insCTTTTT (p.Thr6828_Asp6829insPhePhe) c.20108_20109insCTTTTT (p.Thr6703_Asp6704insPhePhe) c.47303_47304insCTTTTT (p.Thr15768_Asp15769insPhePhe) c.42380_42381insCTTTTT (p.Thr14127_Asp14128insPhePhe) n.1605-1706_1605-1705insAAAAAG c.46400_46401insCTTTTT (p.Thr15467_Asp15468insPhePhe) c.20294_20295insCTTTTT (p.Thr6765_Asp6766insPhePhe) c.20153_20154insCTTTTT (p.Thr6718_Asp6719insPhePhe) c.46196_46197insCTTTTT (p.Thr15399_Asp15400insPhePhe) c.41594_41595insCTTTTT (p.Thr13865_Asp13866insPhePhe) c.41591_41592insCTTTTT (p.Thr13864_Asp13865insPhePhe) c.38633_38634insCTTTTT (p.Thr12878_Asp12879insPhePhe) c.20249_20250insCTTTTT (p.Thr6750_Asp6751insPhePhe) c.41744_41745insCTTTTT (p.Thr13915_Asp13916insPhePhe) c.41741_41742insCTTTTT (p.Thr13914_Asp13915insPhePhe) c.41174_41175insCTTTTT (p.Thr13725_Asp13726insPhePhe) c.38516_38517insCTTTTT (p.Thr12839_Asp12840insPhePhe) c.38435_38436insCTTTTT (p.Thr12812_Asp12813insPhePhe) c.20198_20199insCTTTTT (p.Thr6733_Asp6734insPhePhe) c.10052_10053insCTTTTT (p.Thr3351_Asp3352insPhePhe) | |
2 | g.178618048G>A | CA349618102 | TTN,TTN-AS1 | c.39599C>T (p.Thr13200Ile) c.20684C>T (p.Thr6895Ile) c.20483C>T (p.Thr6828Ile) c.20108C>T (p.Thr6703Ile) c.47303C>T (p.Thr15768Ile) c.42380C>T (p.Thr14127Ile) n.1605-1705G>A c.46400C>T (p.Thr15467Ile) c.20294C>T (p.Thr6765Ile) c.20153C>T (p.Thr6718Ile) c.46196C>T (p.Thr15399Ile) c.41594C>T (p.Thr13865Ile) c.41591C>T (p.Thr13864Ile) c.38633C>T (p.Thr12878Ile) c.20249C>T (p.Thr6750Ile) c.41744C>T (p.Thr13915Ile) c.41741C>T (p.Thr13914Ile) c.41174C>T (p.Thr13725Ile) c.38516C>T (p.Thr12839Ile) c.38435C>T (p.Thr12812Ile) c.20198C>T (p.Thr6733Ile) c.10052C>T (p.Thr3351Ile) | |
2 | g.178618048G>C | CA349618104 | TTN,TTN-AS1 | c.39599C>G (p.Thr13200Ser) c.20684C>G (p.Thr6895Ser) c.20483C>G (p.Thr6828Ser) c.20108C>G (p.Thr6703Ser) c.47303C>G (p.Thr15768Ser) c.42380C>G (p.Thr14127Ser) n.1605-1705G>C c.46400C>G (p.Thr15467Ser) c.20294C>G (p.Thr6765Ser) c.20153C>G (p.Thr6718Ser) c.46196C>G (p.Thr15399Ser) c.41594C>G (p.Thr13865Ser) c.41591C>G (p.Thr13864Ser) c.38633C>G (p.Thr12878Ser) c.20249C>G (p.Thr6750Ser) c.41744C>G (p.Thr13915Ser) c.41741C>G (p.Thr13914Ser) c.41174C>G (p.Thr13725Ser) c.38516C>G (p.Thr12839Ser) c.38435C>G (p.Thr12812Ser) c.20198C>G (p.Thr6733Ser) c.10052C>G (p.Thr3351Ser) | |
2 | g.178618048G>T | CA349618100 | TTN,TTN-AS1 | c.39599C>A (p.Thr13200Asn) c.20684C>A (p.Thr6895Asn) c.20483C>A (p.Thr6828Asn) c.20108C>A (p.Thr6703Asn) c.47303C>A (p.Thr15768Asn) c.42380C>A (p.Thr14127Asn) n.1605-1705G>T c.46400C>A (p.Thr15467Asn) c.20294C>A (p.Thr6765Asn) c.20153C>A (p.Thr6718Asn) c.46196C>A (p.Thr15399Asn) c.41594C>A (p.Thr13865Asn) c.41591C>A (p.Thr13864Asn) c.38633C>A (p.Thr12878Asn) c.20249C>A (p.Thr6750Asn) c.41744C>A (p.Thr13915Asn) c.41741C>A (p.Thr13914Asn) c.41174C>A (p.Thr13725Asn) c.38516C>A (p.Thr12839Asn) c.38435C>A (p.Thr12812Asn) c.20198C>A (p.Thr6733Asn) c.10052C>A (p.Thr3351Asn) | |
2 | g.178618049T>A | CA349618108 | TTN,TTN-AS1 | c.39598A>T (p.Thr13200Ser) c.20683A>T (p.Thr6895Ser) c.20482A>T (p.Thr6828Ser) c.20107A>T (p.Thr6703Ser) c.47302A>T (p.Thr15768Ser) c.42379A>T (p.Thr14127Ser) n.1605-1704T>A c.46399A>T (p.Thr15467Ser) c.20293A>T (p.Thr6765Ser) c.20152A>T (p.Thr6718Ser) c.46195A>T (p.Thr15399Ser) c.41593A>T (p.Thr13865Ser) c.41590A>T (p.Thr13864Ser) c.38632A>T (p.Thr12878Ser) c.20248A>T (p.Thr6750Ser) c.41743A>T (p.Thr13915Ser) c.41740A>T (p.Thr13914Ser) c.41173A>T (p.Thr13725Ser) c.38515A>T (p.Thr12839Ser) c.38434A>T (p.Thr12812Ser) c.20197A>T (p.Thr6733Ser) c.10051A>T (p.Thr3351Ser) | |
2 | g.178618049T>C | CA349618118 | TTN,TTN-AS1 | c.39598A>G (p.Thr13200Ala) c.20683A>G (p.Thr6895Ala) c.20482A>G (p.Thr6828Ala) c.20107A>G (p.Thr6703Ala) c.47302A>G (p.Thr15768Ala) c.42379A>G (p.Thr14127Ala) n.1605-1704T>C c.46399A>G (p.Thr15467Ala) c.20293A>G (p.Thr6765Ala) c.20152A>G (p.Thr6718Ala) c.46195A>G (p.Thr15399Ala) c.41593A>G (p.Thr13865Ala) c.41590A>G (p.Thr13864Ala) c.38632A>G (p.Thr12878Ala) c.20248A>G (p.Thr6750Ala) c.41743A>G (p.Thr13915Ala) c.41740A>G (p.Thr13914Ala) c.41173A>G (p.Thr13725Ala) c.38515A>G (p.Thr12839Ala) c.38434A>G (p.Thr12812Ala) c.20197A>G (p.Thr6733Ala) c.10051A>G (p.Thr3351Ala) | gnomAD v4 |
2 | g.178618049T>G | CA349618121 | TTN,TTN-AS1 | c.39598A>C (p.Thr13200Pro) c.20683A>C (p.Thr6895Pro) c.20482A>C (p.Thr6828Pro) c.20107A>C (p.Thr6703Pro) c.47302A>C (p.Thr15768Pro) c.42379A>C (p.Thr14127Pro) n.1605-1704T>G c.46399A>C (p.Thr15467Pro) c.20293A>C (p.Thr6765Pro) c.20152A>C (p.Thr6718Pro) c.46195A>C (p.Thr15399Pro) c.41593A>C (p.Thr13865Pro) c.41590A>C (p.Thr13864Pro) c.38632A>C (p.Thr12878Pro) c.20248A>C (p.Thr6750Pro) c.41743A>C (p.Thr13915Pro) c.41740A>C (p.Thr13914Pro) c.41173A>C (p.Thr13725Pro) c.38515A>C (p.Thr12839Pro) c.38434A>C (p.Thr12812Pro) c.20197A>C (p.Thr6733Pro) c.10051A>C (p.Thr3351Pro) | |
2 | g.178618050G>A | CA430274470 | TTN,TTN-AS1 | c.39597C>T (p.Ile13199=) c.20682C>T (p.Ile6894=) c.20481C>T (p.Ile6827=) c.20106C>T (p.Ile6702=) c.47301C>T (p.Ile15767=) c.42378C>T (p.Ile14126=) n.1605-1703G>A c.46398C>T (p.Ile15466=) c.20292C>T (p.Ile6764=) c.20151C>T (p.Ile6717=) c.46194C>T (p.Ile15398=) c.41592C>T (p.Ile13864=) c.41589C>T (p.Ile13863=) c.38631C>T (p.Ile12877=) c.20247C>T (p.Ile6749=) c.41742C>T (p.Ile13914=) c.41739C>T (p.Ile13913=) c.41172C>T (p.Ile13724=) c.38514C>T (p.Ile12838=) c.38433C>T (p.Ile12811=) c.20196C>T (p.Ile6732=) c.10050C>T (p.Ile3350=) | gnomAD v4 |
2 | g.178618050G>C | CA349618131 | TTN,TTN-AS1 | c.39597C>G (p.Ile13199Met) c.20682C>G (p.Ile6894Met) c.20481C>G (p.Ile6827Met) c.20106C>G (p.Ile6702Met) c.47301C>G (p.Ile15767Met) c.42378C>G (p.Ile14126Met) n.1605-1703G>C c.46398C>G (p.Ile15466Met) c.20292C>G (p.Ile6764Met) c.20151C>G (p.Ile6717Met) c.46194C>G (p.Ile15398Met) c.41592C>G (p.Ile13864Met) c.41589C>G (p.Ile13863Met) c.38631C>G (p.Ile12877Met) c.20247C>G (p.Ile6749Met) c.41742C>G (p.Ile13914Met) c.41739C>G (p.Ile13913Met) c.41172C>G (p.Ile13724Met) c.38514C>G (p.Ile12838Met) c.38433C>G (p.Ile12811Met) c.20196C>G (p.Ile6732Met) c.10050C>G (p.Ile3350Met) | |
2 | g.178618050G>T | CA430274468 | TTN,TTN-AS1 | c.39597C>A (p.Ile13199=) c.20682C>A (p.Ile6894=) c.20481C>A (p.Ile6827=) c.20106C>A (p.Ile6702=) c.47301C>A (p.Ile15767=) c.42378C>A (p.Ile14126=) n.1605-1703G>T c.46398C>A (p.Ile15466=) c.20292C>A (p.Ile6764=) c.20151C>A (p.Ile6717=) c.46194C>A (p.Ile15398=) c.41592C>A (p.Ile13864=) c.41589C>A (p.Ile13863=) c.38631C>A (p.Ile12877=) c.20247C>A (p.Ile6749=) c.41742C>A (p.Ile13914=) c.41739C>A (p.Ile13913=) c.41172C>A (p.Ile13724=) c.38514C>A (p.Ile12838=) c.38433C>A (p.Ile12811=) c.20196C>A (p.Ile6732=) c.10050C>A (p.Ile3350=) | |
2 | g.178618051A>C | CA349618152 | TTN,TTN-AS1 | c.39596T>G (p.Ile13199Ser) c.20681T>G (p.Ile6894Ser) c.20480T>G (p.Ile6827Ser) c.20105T>G (p.Ile6702Ser) c.47300T>G (p.Ile15767Ser) c.42377T>G (p.Ile14126Ser) n.1605-1702A>C c.46397T>G (p.Ile15466Ser) c.20291T>G (p.Ile6764Ser) c.20150T>G (p.Ile6717Ser) c.46193T>G (p.Ile15398Ser) c.41591T>G (p.Ile13864Ser) c.41588T>G (p.Ile13863Ser) c.38630T>G (p.Ile12877Ser) c.20246T>G (p.Ile6749Ser) c.41741T>G (p.Ile13914Ser) c.41738T>G (p.Ile13913Ser) c.41171T>G (p.Ile13724Ser) c.38513T>G (p.Ile12838Ser) c.38432T>G (p.Ile12811Ser) c.20195T>G (p.Ile6732Ser) c.10049T>G (p.Ile3350Ser) | |
2 | g.178618051A>G | CA349618148 | TTN,TTN-AS1 | c.39596T>C (p.Ile13199Thr) c.20681T>C (p.Ile6894Thr) c.20480T>C (p.Ile6827Thr) c.20105T>C (p.Ile6702Thr) c.47300T>C (p.Ile15767Thr) c.42377T>C (p.Ile14126Thr) n.1605-1702A>G c.46397T>C (p.Ile15466Thr) c.20291T>C (p.Ile6764Thr) c.20150T>C (p.Ile6717Thr) c.46193T>C (p.Ile15398Thr) c.41591T>C (p.Ile13864Thr) c.41588T>C (p.Ile13863Thr) c.38630T>C (p.Ile12877Thr) c.20246T>C (p.Ile6749Thr) c.41741T>C (p.Ile13914Thr) c.41738T>C (p.Ile13913Thr) c.41171T>C (p.Ile13724Thr) c.38513T>C (p.Ile12838Thr) c.38432T>C (p.Ile12811Thr) c.20195T>C (p.Ile6732Thr) c.10049T>C (p.Ile3350Thr) | |
2 | g.178618051A>T | CA349618144 | TTN,TTN-AS1 | c.39596T>A (p.Ile13199Asn) c.20681T>A (p.Ile6894Asn) c.20480T>A (p.Ile6827Asn) c.20105T>A (p.Ile6702Asn) c.47300T>A (p.Ile15767Asn) c.42377T>A (p.Ile14126Asn) n.1605-1702A>T c.46397T>A (p.Ile15466Asn) c.20291T>A (p.Ile6764Asn) c.20150T>A (p.Ile6717Asn) c.46193T>A (p.Ile15398Asn) c.41591T>A (p.Ile13864Asn) c.41588T>A (p.Ile13863Asn) c.38630T>A (p.Ile12877Asn) c.20246T>A (p.Ile6749Asn) c.41741T>A (p.Ile13914Asn) c.41738T>A (p.Ile13913Asn) c.41171T>A (p.Ile13724Asn) c.38513T>A (p.Ile12838Asn) c.38432T>A (p.Ile12811Asn) c.20195T>A (p.Ile6732Asn) c.10049T>A (p.Ile3350Asn) | |
2 | g.178618052T>A | CA349618162 | TTN,TTN-AS1 | c.39595A>T (p.Ile13199Phe) c.20680A>T (p.Ile6894Phe) c.20479A>T (p.Ile6827Phe) c.20104A>T (p.Ile6702Phe) c.47299A>T (p.Ile15767Phe) c.42376A>T (p.Ile14126Phe) n.1605-1701T>A c.46396A>T (p.Ile15466Phe) c.20290A>T (p.Ile6764Phe) c.20149A>T (p.Ile6717Phe) c.46192A>T (p.Ile15398Phe) c.41590A>T (p.Ile13864Phe) c.41587A>T (p.Ile13863Phe) c.38629A>T (p.Ile12877Phe) c.20245A>T (p.Ile6749Phe) c.41740A>T (p.Ile13914Phe) c.41737A>T (p.Ile13913Phe) c.41170A>T (p.Ile13724Phe) c.38512A>T (p.Ile12838Phe) c.38431A>T (p.Ile12811Phe) c.20194A>T (p.Ile6732Phe) c.10048A>T (p.Ile3350Phe) | |
2 | g.178618052T>C | CA349618165 | TTN,TTN-AS1 | c.39595A>G (p.Ile13199Val) c.20680A>G (p.Ile6894Val) c.20479A>G (p.Ile6827Val) c.20104A>G (p.Ile6702Val) c.47299A>G (p.Ile15767Val) c.42376A>G (p.Ile14126Val) n.1605-1701T>C c.46396A>G (p.Ile15466Val) c.20290A>G (p.Ile6764Val) c.20149A>G (p.Ile6717Val) c.46192A>G (p.Ile15398Val) c.41590A>G (p.Ile13864Val) c.41587A>G (p.Ile13863Val) c.38629A>G (p.Ile12877Val) c.20245A>G (p.Ile6749Val) c.41740A>G (p.Ile13914Val) c.41737A>G (p.Ile13913Val) c.41170A>G (p.Ile13724Val) c.38512A>G (p.Ile12838Val) c.38431A>G (p.Ile12811Val) c.20194A>G (p.Ile6732Val) c.10048A>G (p.Ile3350Val) | |
2 | g.178618052T>G | CA349618169 | TTN,TTN-AS1 | c.39595A>C (p.Ile13199Leu) c.20680A>C (p.Ile6894Leu) c.20479A>C (p.Ile6827Leu) c.20104A>C (p.Ile6702Leu) c.47299A>C (p.Ile15767Leu) c.42376A>C (p.Ile14126Leu) n.1605-1701T>G c.46396A>C (p.Ile15466Leu) c.20290A>C (p.Ile6764Leu) c.20149A>C (p.Ile6717Leu) c.46192A>C (p.Ile15398Leu) c.41590A>C (p.Ile13864Leu) c.41587A>C (p.Ile13863Leu) c.38629A>C (p.Ile12877Leu) c.20245A>C (p.Ile6749Leu) c.41740A>C (p.Ile13914Leu) c.41737A>C (p.Ile13913Leu) c.41170A>C (p.Ile13724Leu) c.38512A>C (p.Ile12838Leu) c.38431A>C (p.Ile12811Leu) c.20194A>C (p.Ile6732Leu) c.10048A>C (p.Ile3350Leu) | |
2 | g.178618053G>A | CA430274473 | TTN,TTN-AS1 | c.39594C>T (p.Thr13198=) c.20679C>T (p.Thr6893=) c.20478C>T (p.Thr6826=) c.20103C>T (p.Thr6701=) c.47298C>T (p.Thr15766=) c.42375C>T (p.Thr14125=) n.1605-1700G>A c.46395C>T (p.Thr15465=) c.20289C>T (p.Thr6763=) c.20148C>T (p.Thr6716=) c.46191C>T (p.Thr15397=) c.41589C>T (p.Thr13863=) c.41586C>T (p.Thr13862=) c.38628C>T (p.Thr12876=) c.20244C>T (p.Thr6748=) c.41739C>T (p.Thr13913=) c.41736C>T (p.Thr13912=) c.41169C>T (p.Thr13723=) c.38511C>T (p.Thr12837=) c.38430C>T (p.Thr12810=) c.20193C>T (p.Thr6731=) c.10047C>T (p.Thr3349=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178618053G>C | CA430274474 | TTN,TTN-AS1 | c.39594C>G (p.Thr13198=) c.20679C>G (p.Thr6893=) c.20478C>G (p.Thr6826=) c.20103C>G (p.Thr6701=) c.47298C>G (p.Thr15766=) c.42375C>G (p.Thr14125=) n.1605-1700G>C c.46395C>G (p.Thr15465=) c.20289C>G (p.Thr6763=) c.20148C>G (p.Thr6716=) c.46191C>G (p.Thr15397=) c.41589C>G (p.Thr13863=) c.41586C>G (p.Thr13862=) c.38628C>G (p.Thr12876=) c.20244C>G (p.Thr6748=) c.41739C>G (p.Thr13913=) c.41736C>G (p.Thr13912=) c.41169C>G (p.Thr13723=) c.38511C>G (p.Thr12837=) c.38430C>G (p.Thr12810=) c.20193C>G (p.Thr6731=) c.10047C>G (p.Thr3349=) | |
2 | g.178618053G= | CA1310550889 | TTN,TTN-AS1 | c.39594C= (p.Thr13198=) c.20679C= (p.Thr6893=) c.20478C= (p.Thr6826=) c.20103C= (p.Thr6701=) c.47298C= (p.Thr15766=) c.42375C= (p.Thr14125=) n.1605-1700G= c.46395C= (p.Thr15465=) c.20289C= (p.Thr6763=) c.20148C= (p.Thr6716=) c.46191C= (p.Thr15397=) c.41589C= (p.Thr13863=) c.41586C= (p.Thr13862=) c.38628C= (p.Thr12876=) c.20244C= (p.Thr6748=) c.41739C= (p.Thr13913=) c.41736C= (p.Thr13912=) c.41169C= (p.Thr13723=) c.38511C= (p.Thr12837=) c.38430C= (p.Thr12810=) c.20193C= (p.Thr6731=) c.10047C= (p.Thr3349=) | |
2 | g.178618053G>T | CA430274476 | TTN,TTN-AS1 | c.39594C>A (p.Thr13198=) c.20679C>A (p.Thr6893=) c.20478C>A (p.Thr6826=) c.20103C>A (p.Thr6701=) c.47298C>A (p.Thr15766=) c.42375C>A (p.Thr14125=) n.1605-1700G>T c.46395C>A (p.Thr15465=) c.20289C>A (p.Thr6763=) c.20148C>A (p.Thr6716=) c.46191C>A (p.Thr15397=) c.41589C>A (p.Thr13863=) c.41586C>A (p.Thr13862=) c.38628C>A (p.Thr12876=) c.20244C>A (p.Thr6748=) c.41739C>A (p.Thr13913=) c.41736C>A (p.Thr13912=) c.41169C>A (p.Thr13723=) c.38511C>A (p.Thr12837=) c.38430C>A (p.Thr12810=) c.20193C>A (p.Thr6731=) c.10047C>A (p.Thr3349=) | |
2 | g.178618054G>A | CA349618174 | TTN,TTN-AS1 | c.39593C>T (p.Thr13198Ile) c.20678C>T (p.Thr6893Ile) c.20477C>T (p.Thr6826Ile) c.20102C>T (p.Thr6701Ile) c.47297C>T (p.Thr15766Ile) c.42374C>T (p.Thr14125Ile) n.1605-1699G>A c.46394C>T (p.Thr15465Ile) c.20288C>T (p.Thr6763Ile) c.20147C>T (p.Thr6716Ile) c.46190C>T (p.Thr15397Ile) c.41588C>T (p.Thr13863Ile) c.41585C>T (p.Thr13862Ile) c.38627C>T (p.Thr12876Ile) c.20243C>T (p.Thr6748Ile) c.41738C>T (p.Thr13913Ile) c.41735C>T (p.Thr13912Ile) c.41168C>T (p.Thr13723Ile) c.38510C>T (p.Thr12837Ile) c.38429C>T (p.Thr12810Ile) c.20192C>T (p.Thr6731Ile) c.10046C>T (p.Thr3349Ile) | gnomAD v4 |
2 | g.178618054G>C | CA349618178 | TTN,TTN-AS1 | c.39593C>G (p.Thr13198Ser) c.20678C>G (p.Thr6893Ser) c.20477C>G (p.Thr6826Ser) c.20102C>G (p.Thr6701Ser) c.47297C>G (p.Thr15766Ser) c.42374C>G (p.Thr14125Ser) n.1605-1699G>C c.46394C>G (p.Thr15465Ser) c.20288C>G (p.Thr6763Ser) c.20147C>G (p.Thr6716Ser) c.46190C>G (p.Thr15397Ser) c.41588C>G (p.Thr13863Ser) c.41585C>G (p.Thr13862Ser) c.38627C>G (p.Thr12876Ser) c.20243C>G (p.Thr6748Ser) c.41738C>G (p.Thr13913Ser) c.41735C>G (p.Thr13912Ser) c.41168C>G (p.Thr13723Ser) c.38510C>G (p.Thr12837Ser) c.38429C>G (p.Thr12810Ser) c.20192C>G (p.Thr6731Ser) c.10046C>G (p.Thr3349Ser) | |
2 | g.178618054G= | CA1310550890 | TTN,TTN-AS1 | c.39593C= (p.Thr13198=) c.20678C= (p.Thr6893=) c.20477C= (p.Thr6826=) c.20102C= (p.Thr6701=) c.47297C= (p.Thr15766=) c.42374C= (p.Thr14125=) n.1605-1699G= c.46394C= (p.Thr15465=) c.20288C= (p.Thr6763=) c.20147C= (p.Thr6716=) c.46190C= (p.Thr15397=) c.41588C= (p.Thr13863=) c.41585C= (p.Thr13862=) c.38627C= (p.Thr12876=) c.20243C= (p.Thr6748=) c.41738C= (p.Thr13913=) c.41735C= (p.Thr13912=) c.41168C= (p.Thr13723=) c.38510C= (p.Thr12837=) c.38429C= (p.Thr12810=) c.20192C= (p.Thr6731=) c.10046C= (p.Thr3349=) | |
2 | g.178618054G>T | CA1995068 | TTN,TTN-AS1 | c.39593C>A (p.Thr13198Asn) c.20678C>A (p.Thr6893Asn) c.20477C>A (p.Thr6826Asn) c.20102C>A (p.Thr6701Asn) c.47297C>A (p.Thr15766Asn) c.42374C>A (p.Thr14125Asn) n.1605-1699G>T c.46394C>A (p.Thr15465Asn) c.20288C>A (p.Thr6763Asn) c.20147C>A (p.Thr6716Asn) c.46190C>A (p.Thr15397Asn) c.41588C>A (p.Thr13863Asn) c.41585C>A (p.Thr13862Asn) c.38627C>A (p.Thr12876Asn) c.20243C>A (p.Thr6748Asn) c.41738C>A (p.Thr13913Asn) c.41735C>A (p.Thr13912Asn) c.41168C>A (p.Thr13723Asn) c.38510C>A (p.Thr12837Asn) c.38429C>A (p.Thr12810Asn) c.20192C>A (p.Thr6731Asn) c.10046C>A (p.Thr3349Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618055T>A | CA10581867 | TTN,TTN-AS1 | c.39592A>T (p.Thr13198Ser) c.20677A>T (p.Thr6893Ser) c.20476A>T (p.Thr6826Ser) c.20101A>T (p.Thr6701Ser) c.47296A>T (p.Thr15766Ser) c.42373A>T (p.Thr14125Ser) n.1605-1698T>A c.46393A>T (p.Thr15465Ser) c.20287A>T (p.Thr6763Ser) c.20146A>T (p.Thr6716Ser) c.46189A>T (p.Thr15397Ser) c.41587A>T (p.Thr13863Ser) c.41584A>T (p.Thr13862Ser) c.38626A>T (p.Thr12876Ser) c.20242A>T (p.Thr6748Ser) c.41737A>T (p.Thr13913Ser) c.41734A>T (p.Thr13912Ser) c.41167A>T (p.Thr13723Ser) c.38509A>T (p.Thr12837Ser) c.38428A>T (p.Thr12810Ser) c.20191A>T (p.Thr6731Ser) c.10045A>T (p.Thr3349Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178618055T>C | CA349618186 | TTN,TTN-AS1 | c.39592A>G (p.Thr13198Ala) c.20677A>G (p.Thr6893Ala) c.20476A>G (p.Thr6826Ala) c.20101A>G (p.Thr6701Ala) c.47296A>G (p.Thr15766Ala) c.42373A>G (p.Thr14125Ala) n.1605-1698T>C c.46393A>G (p.Thr15465Ala) c.20287A>G (p.Thr6763Ala) c.20146A>G (p.Thr6716Ala) c.46189A>G (p.Thr15397Ala) c.41587A>G (p.Thr13863Ala) c.41584A>G (p.Thr13862Ala) c.38626A>G (p.Thr12876Ala) c.20242A>G (p.Thr6748Ala) c.41737A>G (p.Thr13913Ala) c.41734A>G (p.Thr13912Ala) c.41167A>G (p.Thr13723Ala) c.38509A>G (p.Thr12837Ala) c.38428A>G (p.Thr12810Ala) c.20191A>G (p.Thr6731Ala) c.10045A>G (p.Thr3349Ala) | |
2 | g.178618055T>G | CA349618189 | TTN,TTN-AS1 | c.39592A>C (p.Thr13198Pro) c.20677A>C (p.Thr6893Pro) c.20476A>C (p.Thr6826Pro) c.20101A>C (p.Thr6701Pro) c.47296A>C (p.Thr15766Pro) c.42373A>C (p.Thr14125Pro) n.1605-1698T>G c.46393A>C (p.Thr15465Pro) c.20287A>C (p.Thr6763Pro) c.20146A>C (p.Thr6716Pro) c.46189A>C (p.Thr15397Pro) c.41587A>C (p.Thr13863Pro) c.41584A>C (p.Thr13862Pro) c.38626A>C (p.Thr12876Pro) c.20242A>C (p.Thr6748Pro) c.41737A>C (p.Thr13913Pro) c.41734A>C (p.Thr13912Pro) c.41167A>C (p.Thr13723Pro) c.38509A>C (p.Thr12837Pro) c.38428A>C (p.Thr12810Pro) c.20191A>C (p.Thr6731Pro) c.10045A>C (p.Thr3349Pro) | |
2 | g.178618055T= | CA1310550891 | TTN,TTN-AS1 | c.39592A= (p.Thr13198=) c.20677A= (p.Thr6893=) c.20476A= (p.Thr6826=) c.20101A= (p.Thr6701=) c.47296A= (p.Thr15766=) c.42373A= (p.Thr14125=) n.1605-1698T= c.46393A= (p.Thr15465=) c.20287A= (p.Thr6763=) c.20146A= (p.Thr6716=) c.46189A= (p.Thr15397=) c.41587A= (p.Thr13863=) c.41584A= (p.Thr13862=) c.38626A= (p.Thr12876=) c.20242A= (p.Thr6748=) c.41737A= (p.Thr13913=) c.41734A= (p.Thr13912=) c.41167A= (p.Thr13723=) c.38509A= (p.Thr12837=) c.38428A= (p.Thr12810=) c.20191A= (p.Thr6731=) c.10045A= (p.Thr3349=) | |
2 | g.178618056T>A | CA430274488 | TTN,TTN-AS1 | c.39591A>T (p.Val13197=) c.20676A>T (p.Val6892=) c.20475A>T (p.Val6825=) c.20100A>T (p.Val6700=) c.47295A>T (p.Val15765=) c.42372A>T (p.Val14124=) n.1605-1697T>A c.46392A>T (p.Val15464=) c.20286A>T (p.Val6762=) c.20145A>T (p.Val6715=) c.46188A>T (p.Val15396=) c.41586A>T (p.Val13862=) c.41583A>T (p.Val13861=) c.38625A>T (p.Val12875=) c.20241A>T (p.Val6747=) c.41736A>T (p.Val13912=) c.41733A>T (p.Val13911=) c.41166A>T (p.Val13722=) c.38508A>T (p.Val12836=) c.38427A>T (p.Val12809=) c.20190A>T (p.Val6730=) c.10044A>T (p.Val3348=) | dbSNP gnomAD v4 |
2 | g.178618056T>C | CA430274491 | TTN,TTN-AS1 | c.39591A>G (p.Val13197=) c.20676A>G (p.Val6892=) c.20475A>G (p.Val6825=) c.20100A>G (p.Val6700=) c.47295A>G (p.Val15765=) c.42372A>G (p.Val14124=) n.1605-1697T>C c.46392A>G (p.Val15464=) c.20286A>G (p.Val6762=) c.20145A>G (p.Val6715=) c.46188A>G (p.Val15396=) c.41586A>G (p.Val13862=) c.41583A>G (p.Val13861=) c.38625A>G (p.Val12875=) c.20241A>G (p.Val6747=) c.41736A>G (p.Val13912=) c.41733A>G (p.Val13911=) c.41166A>G (p.Val13722=) c.38508A>G (p.Val12836=) c.38427A>G (p.Val12809=) c.20190A>G (p.Val6730=) c.10044A>G (p.Val3348=) | |
2 | g.178618056T>G | CA430274492 | TTN,TTN-AS1 | c.39591A>C (p.Val13197=) c.20676A>C (p.Val6892=) c.20475A>C (p.Val6825=) c.20100A>C (p.Val6700=) c.47295A>C (p.Val15765=) c.42372A>C (p.Val14124=) n.1605-1697T>G c.46392A>C (p.Val15464=) c.20286A>C (p.Val6762=) c.20145A>C (p.Val6715=) c.46188A>C (p.Val15396=) c.41586A>C (p.Val13862=) c.41583A>C (p.Val13861=) c.38625A>C (p.Val12875=) c.20241A>C (p.Val6747=) c.41736A>C (p.Val13912=) c.41733A>C (p.Val13911=) c.41166A>C (p.Val13722=) c.38508A>C (p.Val12836=) c.38427A>C (p.Val12809=) c.20190A>C (p.Val6730=) c.10044A>C (p.Val3348=) | |
2 | g.178618056T= | CA1310550892 | TTN,TTN-AS1 | c.39591A= (p.Val13197=) c.20676A= (p.Val6892=) c.20475A= (p.Val6825=) c.20100A= (p.Val6700=) c.47295A= (p.Val15765=) c.42372A= (p.Val14124=) n.1605-1697T= c.46392A= (p.Val15464=) c.20286A= (p.Val6762=) c.20145A= (p.Val6715=) c.46188A= (p.Val15396=) c.41586A= (p.Val13862=) c.41583A= (p.Val13861=) c.38625A= (p.Val12875=) c.20241A= (p.Val6747=) c.41736A= (p.Val13912=) c.41733A= (p.Val13911=) c.41166A= (p.Val13722=) c.38508A= (p.Val12836=) c.38427A= (p.Val12809=) c.20190A= (p.Val6730=) c.10044A= (p.Val3348=) | |
2 | g.178618057A>C | CA349618197 | TTN,TTN-AS1 | c.39590T>G (p.Val13197Gly) c.20675T>G (p.Val6892Gly) c.20474T>G (p.Val6825Gly) c.20099T>G (p.Val6700Gly) c.47294T>G (p.Val15765Gly) c.42371T>G (p.Val14124Gly) n.1605-1696A>C c.46391T>G (p.Val15464Gly) c.20285T>G (p.Val6762Gly) c.20144T>G (p.Val6715Gly) c.46187T>G (p.Val15396Gly) c.41585T>G (p.Val13862Gly) c.41582T>G (p.Val13861Gly) c.38624T>G (p.Val12875Gly) c.20240T>G (p.Val6747Gly) c.41735T>G (p.Val13912Gly) c.41732T>G (p.Val13911Gly) c.41165T>G (p.Val13722Gly) c.38507T>G (p.Val12836Gly) c.38426T>G (p.Val12809Gly) c.20189T>G (p.Val6730Gly) c.10043T>G (p.Val3348Gly) | |
2 | g.178618057A>G | CA349618201 | TTN,TTN-AS1 | c.39590T>C (p.Val13197Ala) c.20675T>C (p.Val6892Ala) c.20474T>C (p.Val6825Ala) c.20099T>C (p.Val6700Ala) c.47294T>C (p.Val15765Ala) c.42371T>C (p.Val14124Ala) n.1605-1696A>G c.46391T>C (p.Val15464Ala) c.20285T>C (p.Val6762Ala) c.20144T>C (p.Val6715Ala) c.46187T>C (p.Val15396Ala) c.41585T>C (p.Val13862Ala) c.41582T>C (p.Val13861Ala) c.38624T>C (p.Val12875Ala) c.20240T>C (p.Val6747Ala) c.41735T>C (p.Val13912Ala) c.41732T>C (p.Val13911Ala) c.41165T>C (p.Val13722Ala) c.38507T>C (p.Val12836Ala) c.38426T>C (p.Val12809Ala) c.20189T>C (p.Val6730Ala) c.10043T>C (p.Val3348Ala) | |
2 | g.178618057A>T | CA349618200 | TTN,TTN-AS1 | c.39590T>A (p.Val13197Glu) c.20675T>A (p.Val6892Glu) c.20474T>A (p.Val6825Glu) c.20099T>A (p.Val6700Glu) c.47294T>A (p.Val15765Glu) c.42371T>A (p.Val14124Glu) n.1605-1696A>T c.46391T>A (p.Val15464Glu) c.20285T>A (p.Val6762Glu) c.20144T>A (p.Val6715Glu) c.46187T>A (p.Val15396Glu) c.41585T>A (p.Val13862Glu) c.41582T>A (p.Val13861Glu) c.38624T>A (p.Val12875Glu) c.20240T>A (p.Val6747Glu) c.41735T>A (p.Val13912Glu) c.41732T>A (p.Val13911Glu) c.41165T>A (p.Val13722Glu) c.38507T>A (p.Val12836Glu) c.38426T>A (p.Val12809Glu) c.20189T>A (p.Val6730Glu) c.10043T>A (p.Val3348Glu) | |
2 | g.178618058C>A | CA349618202 | TTN,TTN-AS1 | c.39589G>T (p.Val13197Leu) c.20674G>T (p.Val6892Leu) c.20473G>T (p.Val6825Leu) c.20098G>T (p.Val6700Leu) c.47293G>T (p.Val15765Leu) c.42370G>T (p.Val14124Leu) n.1605-1695C>A c.46390G>T (p.Val15464Leu) c.20284G>T (p.Val6762Leu) c.20143G>T (p.Val6715Leu) c.46186G>T (p.Val15396Leu) c.41584G>T (p.Val13862Leu) c.41581G>T (p.Val13861Leu) c.38623G>T (p.Val12875Leu) c.20239G>T (p.Val6747Leu) c.41734G>T (p.Val13912Leu) c.41731G>T (p.Val13911Leu) c.41164G>T (p.Val13722Leu) c.38506G>T (p.Val12836Leu) c.38425G>T (p.Val12809Leu) c.20188G>T (p.Val6730Leu) c.10042G>T (p.Val3348Leu) | |
2 | g.178618058C= | CA1310550894 | TTN,TTN-AS1 | c.39589G= (p.Val13197=) c.20674G= (p.Val6892=) c.20473G= (p.Val6825=) c.20098G= (p.Val6700=) c.47293G= (p.Val15765=) c.42370G= (p.Val14124=) n.1605-1695C= c.46390G= (p.Val15464=) c.20284G= (p.Val6762=) c.20143G= (p.Val6715=) c.46186G= (p.Val15396=) c.41584G= (p.Val13862=) c.41581G= (p.Val13861=) c.38623G= (p.Val12875=) c.20239G= (p.Val6747=) c.41734G= (p.Val13912=) c.41731G= (p.Val13911=) c.41164G= (p.Val13722=) c.38506G= (p.Val12836=) c.38425G= (p.Val12809=) c.20188G= (p.Val6730=) c.10042G= (p.Val3348=) | |
2 | g.178618058C>G | CA349618206 | TTN,TTN-AS1 | c.39589G>C (p.Val13197Leu) c.20674G>C (p.Val6892Leu) c.20473G>C (p.Val6825Leu) c.20098G>C (p.Val6700Leu) c.47293G>C (p.Val15765Leu) c.42370G>C (p.Val14124Leu) n.1605-1695C>G c.46390G>C (p.Val15464Leu) c.20284G>C (p.Val6762Leu) c.20143G>C (p.Val6715Leu) c.46186G>C (p.Val15396Leu) c.41584G>C (p.Val13862Leu) c.41581G>C (p.Val13861Leu) c.38623G>C (p.Val12875Leu) c.20239G>C (p.Val6747Leu) c.41734G>C (p.Val13912Leu) c.41731G>C (p.Val13911Leu) c.41164G>C (p.Val13722Leu) c.38506G>C (p.Val12836Leu) c.38425G>C (p.Val12809Leu) c.20188G>C (p.Val6730Leu) c.10042G>C (p.Val3348Leu) | |
2 | g.178618058C>T | CA1995069 | TTN,TTN-AS1 | c.39589G>A (p.Val13197Ile) c.20674G>A (p.Val6892Ile) c.20473G>A (p.Val6825Ile) c.20098G>A (p.Val6700Ile) c.47293G>A (p.Val15765Ile) c.42370G>A (p.Val14124Ile) n.1605-1695C>T c.46390G>A (p.Val15464Ile) c.20284G>A (p.Val6762Ile) c.20143G>A (p.Val6715Ile) c.46186G>A (p.Val15396Ile) c.41584G>A (p.Val13862Ile) c.41581G>A (p.Val13861Ile) c.38623G>A (p.Val12875Ile) c.20239G>A (p.Val6747Ile) c.41734G>A (p.Val13912Ile) c.41731G>A (p.Val13911Ile) c.41164G>A (p.Val13722Ile) c.38506G>A (p.Val12836Ile) c.38425G>A (p.Val12809Ile) c.20188G>A (p.Val6730Ile) c.10042G>A (p.Val3348Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618058_178618060delinsCAT | CA1310550893 | TTN,TTN-AS1 | c.39587_39589delinsATG (p.Asn13196=) c.20672_20674delinsATG (p.Asn6891=) c.20471_20473delinsATG (p.Asn6824=) c.20096_20098delinsATG (p.Asn6699=) c.47291_47293delinsATG (p.Asn15764=) c.42368_42370delinsATG (p.Asn14123=) n.1605-1695_1605-1693delinsCAT c.46388_46390delinsATG (p.Asn15463=) c.20282_20284delinsATG (p.Asn6761=) c.20141_20143delinsATG (p.Asn6714=) c.46184_46186delinsATG (p.Asn15395=) c.41582_41584delinsATG (p.Asn13861=) c.41579_41581delinsATG (p.Asn13860=) c.38621_38623delinsATG (p.Asn12874=) c.20237_20239delinsATG (p.Asn6746=) c.41732_41734delinsATG (p.Asn13911=) c.41729_41731delinsATG (p.Asn13910=) c.41162_41164delinsATG (p.Asn13721=) c.38504_38506delinsATG (p.Asn12835=) c.38423_38425delinsATG (p.Asn12808=) c.20186_20188delinsATG (p.Asn6729=) c.10040_10042delinsATG (p.Asn3347=) | |
2 | g.178618059A= | CA1310550895 | TTN,TTN-AS1 | c.39588T= (p.Asn13196=) c.20673T= (p.Asn6891=) c.20472T= (p.Asn6824=) c.20097T= (p.Asn6699=) c.47292T= (p.Asn15764=) c.42369T= (p.Asn14123=) n.1605-1694A= c.46389T= (p.Asn15463=) c.20283T= (p.Asn6761=) c.20142T= (p.Asn6714=) c.46185T= (p.Asn15395=) c.41583T= (p.Asn13861=) c.41580T= (p.Asn13860=) c.38622T= (p.Asn12874=) c.20238T= (p.Asn6746=) c.41733T= (p.Asn13911=) c.41730T= (p.Asn13910=) c.41163T= (p.Asn13721=) c.38505T= (p.Asn12835=) c.38424T= (p.Asn12808=) c.20187T= (p.Asn6729=) c.10041T= (p.Asn3347=) | |
2 | g.178618059A>C | CA349618209 | TTN,TTN-AS1 | c.39588T>G (p.Asn13196Lys) c.20673T>G (p.Asn6891Lys) c.20472T>G (p.Asn6824Lys) c.20097T>G (p.Asn6699Lys) c.47292T>G (p.Asn15764Lys) c.42369T>G (p.Asn14123Lys) n.1605-1694A>C c.46389T>G (p.Asn15463Lys) c.20283T>G (p.Asn6761Lys) c.20142T>G (p.Asn6714Lys) c.46185T>G (p.Asn15395Lys) c.41583T>G (p.Asn13861Lys) c.41580T>G (p.Asn13860Lys) c.38622T>G (p.Asn12874Lys) c.20238T>G (p.Asn6746Lys) c.41733T>G (p.Asn13911Lys) c.41730T>G (p.Asn13910Lys) c.41163T>G (p.Asn13721Lys) c.38505T>G (p.Asn12835Lys) c.38424T>G (p.Asn12808Lys) c.20187T>G (p.Asn6729Lys) c.10041T>G (p.Asn3347Lys) | |
2 | g.178618059A>G | CA1995071 | TTN,TTN-AS1 | c.39588T>C (p.Asn13196=) c.20673T>C (p.Asn6891=) c.20472T>C (p.Asn6824=) c.20097T>C (p.Asn6699=) c.47292T>C (p.Asn15764=) c.42369T>C (p.Asn14123=) n.1605-1694A>G c.46389T>C (p.Asn15463=) c.20283T>C (p.Asn6761=) c.20142T>C (p.Asn6714=) c.46185T>C (p.Asn15395=) c.41583T>C (p.Asn13861=) c.41580T>C (p.Asn13860=) c.38622T>C (p.Asn12874=) c.20238T>C (p.Asn6746=) c.41733T>C (p.Asn13911=) c.41730T>C (p.Asn13910=) c.41163T>C (p.Asn13721=) c.38505T>C (p.Asn12835=) c.38424T>C (p.Asn12808=) c.20187T>C (p.Asn6729=) c.10041T>C (p.Asn3347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618059A>T | CA349618216 | TTN,TTN-AS1 | c.39588T>A (p.Asn13196Lys) c.20673T>A (p.Asn6891Lys) c.20472T>A (p.Asn6824Lys) c.20097T>A (p.Asn6699Lys) c.47292T>A (p.Asn15764Lys) c.42369T>A (p.Asn14123Lys) n.1605-1694A>T c.46389T>A (p.Asn15463Lys) c.20283T>A (p.Asn6761Lys) c.20142T>A (p.Asn6714Lys) c.46185T>A (p.Asn15395Lys) c.41583T>A (p.Asn13861Lys) c.41580T>A (p.Asn13860Lys) c.38622T>A (p.Asn12874Lys) c.20238T>A (p.Asn6746Lys) c.41733T>A (p.Asn13911Lys) c.41730T>A (p.Asn13910Lys) c.41163T>A (p.Asn13721Lys) c.38505T>A (p.Asn12835Lys) c.38424T>A (p.Asn12808Lys) c.20187T>A (p.Asn6729Lys) c.10041T>A (p.Asn3347Lys) | |
2 | g.178618059_178618060del | CA1995070 | TTN,TTN-AS1 | c.39587_39588del (p.Asn13196SerfsTer5) c.20672_20673del (p.Asn6891SerfsTer5) c.20471_20472del (p.Asn6824SerfsTer5) c.20096_20097del (p.Asn6699SerfsTer5) c.47291_47292del (p.Asn15764SerfsTer5) c.42368_42369del (p.Asn14123SerfsTer5) n.1605-1694_1605-1693del c.46388_46389del (p.Asn15463SerfsTer5) c.20282_20283del (p.Asn6761SerfsTer5) c.20141_20142del (p.Asn6714SerfsTer5) c.46184_46185del (p.Asn15395SerfsTer5) c.41582_41583del (p.Asn13861SerfsTer5) c.41579_41580del (p.Asn13860SerfsTer5) c.38621_38622del (p.Asn12874SerfsTer5) c.20237_20238del (p.Asn6746SerfsTer5) c.41732_41733del (p.Asn13911SerfsTer5) c.41729_41730del (p.Asn13910SerfsTer5) c.41162_41163del (p.Asn13721SerfsTer5) c.38504_38505del (p.Asn12835SerfsTer5) c.38423_38424del (p.Asn12808SerfsTer5) c.20186_20187del (p.Asn6729SerfsTer5) c.10040_10041del (p.Asn3347SerfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618060T>A | CA349618219 | TTN,TTN-AS1 | c.39587A>T (p.Asn13196Ile) c.20672A>T (p.Asn6891Ile) c.20471A>T (p.Asn6824Ile) c.20096A>T (p.Asn6699Ile) c.47291A>T (p.Asn15764Ile) c.42368A>T (p.Asn14123Ile) n.1605-1693T>A c.46388A>T (p.Asn15463Ile) c.20282A>T (p.Asn6761Ile) c.20141A>T (p.Asn6714Ile) c.46184A>T (p.Asn15395Ile) c.41582A>T (p.Asn13861Ile) c.41579A>T (p.Asn13860Ile) c.38621A>T (p.Asn12874Ile) c.20237A>T (p.Asn6746Ile) c.41732A>T (p.Asn13911Ile) c.41729A>T (p.Asn13910Ile) c.41162A>T (p.Asn13721Ile) c.38504A>T (p.Asn12835Ile) c.38423A>T (p.Asn12808Ile) c.20186A>T (p.Asn6729Ile) c.10040A>T (p.Asn3347Ile) | |
2 | g.178618060T>C | CA349618223 | TTN,TTN-AS1 | c.39587A>G (p.Asn13196Ser) c.20672A>G (p.Asn6891Ser) c.20471A>G (p.Asn6824Ser) c.20096A>G (p.Asn6699Ser) c.47291A>G (p.Asn15764Ser) c.42368A>G (p.Asn14123Ser) n.1605-1693T>C c.46388A>G (p.Asn15463Ser) c.20282A>G (p.Asn6761Ser) c.20141A>G (p.Asn6714Ser) c.46184A>G (p.Asn15395Ser) c.41582A>G (p.Asn13861Ser) c.41579A>G (p.Asn13860Ser) c.38621A>G (p.Asn12874Ser) c.20237A>G (p.Asn6746Ser) c.41732A>G (p.Asn13911Ser) c.41729A>G (p.Asn13910Ser) c.41162A>G (p.Asn13721Ser) c.38504A>G (p.Asn12835Ser) c.38423A>G (p.Asn12808Ser) c.20186A>G (p.Asn6729Ser) c.10040A>G (p.Asn3347Ser) | |
2 | g.178618060T>G | CA349618228 | TTN,TTN-AS1 | c.39587A>C (p.Asn13196Thr) c.20672A>C (p.Asn6891Thr) c.20471A>C (p.Asn6824Thr) c.20096A>C (p.Asn6699Thr) c.47291A>C (p.Asn15764Thr) c.42368A>C (p.Asn14123Thr) n.1605-1693T>G c.46388A>C (p.Asn15463Thr) c.20282A>C (p.Asn6761Thr) c.20141A>C (p.Asn6714Thr) c.46184A>C (p.Asn15395Thr) c.41582A>C (p.Asn13861Thr) c.41579A>C (p.Asn13860Thr) c.38621A>C (p.Asn12874Thr) c.20237A>C (p.Asn6746Thr) c.41732A>C (p.Asn13911Thr) c.41729A>C (p.Asn13910Thr) c.41162A>C (p.Asn13721Thr) c.38504A>C (p.Asn12835Thr) c.38423A>C (p.Asn12808Thr) c.20186A>C (p.Asn6729Thr) c.10040A>C (p.Asn3347Thr) | |
2 | g.178618061del | CA2662134611 | TTN,TTN-AS1 | c.39587del (p.Asn13196MetfsTer2) c.20672del (p.Asn6891MetfsTer2) c.20471del (p.Asn6824MetfsTer2) c.20096del (p.Asn6699MetfsTer2) c.47291del (p.Asn15764MetfsTer2) c.42368del (p.Asn14123MetfsTer2) n.1605-1692del c.46388del (p.Asn15463MetfsTer2) c.20282del (p.Asn6761MetfsTer2) c.20141del (p.Asn6714MetfsTer2) c.46184del (p.Asn15395MetfsTer2) c.41582del (p.Asn13861MetfsTer2) c.41579del (p.Asn13860MetfsTer2) c.38621del (p.Asn12874MetfsTer2) c.20237del (p.Asn6746MetfsTer2) c.41732del (p.Asn13911MetfsTer2) c.41729del (p.Asn13910MetfsTer2) c.41162del (p.Asn13721MetfsTer2) c.38504del (p.Asn12835MetfsTer2) c.38423del (p.Asn12808MetfsTer2) c.20186del (p.Asn6729MetfsTer2) c.10040del (p.Asn3347MetfsTer2) | gnomAD v4 |
2 | g.178618061T>A | CA349618239 | TTN,TTN-AS1 | c.39586A>T (p.Asn13196Tyr) c.20671A>T (p.Asn6891Tyr) c.20470A>T (p.Asn6824Tyr) c.20095A>T (p.Asn6699Tyr) c.47290A>T (p.Asn15764Tyr) c.42367A>T (p.Asn14123Tyr) n.1605-1692T>A c.46387A>T (p.Asn15463Tyr) c.20281A>T (p.Asn6761Tyr) c.20140A>T (p.Asn6714Tyr) c.46183A>T (p.Asn15395Tyr) c.41581A>T (p.Asn13861Tyr) c.41578A>T (p.Asn13860Tyr) c.38620A>T (p.Asn12874Tyr) c.20236A>T (p.Asn6746Tyr) c.41731A>T (p.Asn13911Tyr) c.41728A>T (p.Asn13910Tyr) c.41161A>T (p.Asn13721Tyr) c.38503A>T (p.Asn12835Tyr) c.38422A>T (p.Asn12808Tyr) c.20185A>T (p.Asn6729Tyr) c.10039A>T (p.Asn3347Tyr) | |
2 | g.178618061T>C | CA349618241 | TTN,TTN-AS1 | c.39586A>G (p.Asn13196Asp) c.20671A>G (p.Asn6891Asp) c.20470A>G (p.Asn6824Asp) c.20095A>G (p.Asn6699Asp) c.47290A>G (p.Asn15764Asp) c.42367A>G (p.Asn14123Asp) n.1605-1692T>C c.46387A>G (p.Asn15463Asp) c.20281A>G (p.Asn6761Asp) c.20140A>G (p.Asn6714Asp) c.46183A>G (p.Asn15395Asp) c.41581A>G (p.Asn13861Asp) c.41578A>G (p.Asn13860Asp) c.38620A>G (p.Asn12874Asp) c.20236A>G (p.Asn6746Asp) c.41731A>G (p.Asn13911Asp) c.41728A>G (p.Asn13910Asp) c.41161A>G (p.Asn13721Asp) c.38503A>G (p.Asn12835Asp) c.38422A>G (p.Asn12808Asp) c.20185A>G (p.Asn6729Asp) c.10039A>G (p.Asn3347Asp) | |
2 | g.178618061T>G | CA349618243 | TTN,TTN-AS1 | c.39586A>C (p.Asn13196His) c.20671A>C (p.Asn6891His) c.20470A>C (p.Asn6824His) c.20095A>C (p.Asn6699His) c.47290A>C (p.Asn15764His) c.42367A>C (p.Asn14123His) n.1605-1692T>G c.46387A>C (p.Asn15463His) c.20281A>C (p.Asn6761His) c.20140A>C (p.Asn6714His) c.46183A>C (p.Asn15395His) c.41581A>C (p.Asn13861His) c.41578A>C (p.Asn13860His) c.38620A>C (p.Asn12874His) c.20236A>C (p.Asn6746His) c.41731A>C (p.Asn13911His) c.41728A>C (p.Asn13910His) c.41161A>C (p.Asn13721His) c.38503A>C (p.Asn12835His) c.38422A>C (p.Asn12808His) c.20185A>C (p.Asn6729His) c.10039A>C (p.Asn3347His) | |
2 | g.178618062C>A | CA349618254 | TTN,TTN-AS1 | c.39585G>T (p.Leu13195Phe) c.20670G>T (p.Leu6890Phe) c.20469G>T (p.Leu6823Phe) c.20094G>T (p.Leu6698Phe) c.47289G>T (p.Leu15763Phe) c.42366G>T (p.Leu14122Phe) n.1605-1691C>A c.46386G>T (p.Leu15462Phe) c.20280G>T (p.Leu6760Phe) c.20139G>T (p.Leu6713Phe) c.46182G>T (p.Leu15394Phe) c.41580G>T (p.Leu13860Phe) c.41577G>T (p.Leu13859Phe) c.38619G>T (p.Leu12873Phe) c.20235G>T (p.Leu6745Phe) c.41730G>T (p.Leu13910Phe) c.41727G>T (p.Leu13909Phe) c.41160G>T (p.Leu13720Phe) c.38502G>T (p.Leu12834Phe) c.38421G>T (p.Leu12807Phe) c.20184G>T (p.Leu6728Phe) c.10038G>T (p.Leu3346Phe) | ClinVar dbSNP |
2 | g.178618062C= | CA1310550896 | TTN,TTN-AS1 | c.39585G= (p.Leu13195=) c.20670G= (p.Leu6890=) c.20469G= (p.Leu6823=) c.20094G= (p.Leu6698=) c.47289G= (p.Leu15763=) c.42366G= (p.Leu14122=) n.1605-1691C= c.46386G= (p.Leu15462=) c.20280G= (p.Leu6760=) c.20139G= (p.Leu6713=) c.46182G= (p.Leu15394=) c.41580G= (p.Leu13860=) c.41577G= (p.Leu13859=) c.38619G= (p.Leu12873=) c.20235G= (p.Leu6745=) c.41730G= (p.Leu13910=) c.41727G= (p.Leu13909=) c.41160G= (p.Leu13720=) c.38502G= (p.Leu12834=) c.38421G= (p.Leu12807=) c.20184G= (p.Leu6728=) c.10038G= (p.Leu3346=) | |
2 | g.178618062C>G | CA349618260 | TTN,TTN-AS1 | c.39585G>C (p.Leu13195Phe) c.20670G>C (p.Leu6890Phe) c.20469G>C (p.Leu6823Phe) c.20094G>C (p.Leu6698Phe) c.47289G>C (p.Leu15763Phe) c.42366G>C (p.Leu14122Phe) n.1605-1691C>G c.46386G>C (p.Leu15462Phe) c.20280G>C (p.Leu6760Phe) c.20139G>C (p.Leu6713Phe) c.46182G>C (p.Leu15394Phe) c.41580G>C (p.Leu13860Phe) c.41577G>C (p.Leu13859Phe) c.38619G>C (p.Leu12873Phe) c.20235G>C (p.Leu6745Phe) c.41730G>C (p.Leu13910Phe) c.41727G>C (p.Leu13909Phe) c.41160G>C (p.Leu13720Phe) c.38502G>C (p.Leu12834Phe) c.38421G>C (p.Leu12807Phe) c.20184G>C (p.Leu6728Phe) c.10038G>C (p.Leu3346Phe) | |
2 | g.178618062C>T | CA430274506 | TTN,TTN-AS1 | c.39585G>A (p.Leu13195=) c.20670G>A (p.Leu6890=) c.20469G>A (p.Leu6823=) c.20094G>A (p.Leu6698=) c.47289G>A (p.Leu15763=) c.42366G>A (p.Leu14122=) n.1605-1691C>T c.46386G>A (p.Leu15462=) c.20280G>A (p.Leu6760=) c.20139G>A (p.Leu6713=) c.46182G>A (p.Leu15394=) c.41580G>A (p.Leu13860=) c.41577G>A (p.Leu13859=) c.38619G>A (p.Leu12873=) c.20235G>A (p.Leu6745=) c.41730G>A (p.Leu13910=) c.41727G>A (p.Leu13909=) c.41160G>A (p.Leu13720=) c.38502G>A (p.Leu12834=) c.38421G>A (p.Leu12807=) c.20184G>A (p.Leu6728=) c.10038G>A (p.Leu3346=) | |
2 | g.178618063A>C | CA349618263 | TTN,TTN-AS1 | c.39584T>G (p.Leu13195Trp) c.20669T>G (p.Leu6890Trp) c.20468T>G (p.Leu6823Trp) c.20093T>G (p.Leu6698Trp) c.47288T>G (p.Leu15763Trp) c.42365T>G (p.Leu14122Trp) n.1605-1690A>C c.46385T>G (p.Leu15462Trp) c.20279T>G (p.Leu6760Trp) c.20138T>G (p.Leu6713Trp) c.46181T>G (p.Leu15394Trp) c.41579T>G (p.Leu13860Trp) c.41576T>G (p.Leu13859Trp) c.38618T>G (p.Leu12873Trp) c.20234T>G (p.Leu6745Trp) c.41729T>G (p.Leu13910Trp) c.41726T>G (p.Leu13909Trp) c.41159T>G (p.Leu13720Trp) c.38501T>G (p.Leu12834Trp) c.38420T>G (p.Leu12807Trp) c.20183T>G (p.Leu6728Trp) c.10037T>G (p.Leu3346Trp) | dbSNP gnomAD v4 |
2 | g.178618063A>G | CA349618262 | TTN,TTN-AS1 | c.39584T>C (p.Leu13195Ser) c.20669T>C (p.Leu6890Ser) c.20468T>C (p.Leu6823Ser) c.20093T>C (p.Leu6698Ser) c.47288T>C (p.Leu15763Ser) c.42365T>C (p.Leu14122Ser) n.1605-1690A>G c.46385T>C (p.Leu15462Ser) c.20279T>C (p.Leu6760Ser) c.20138T>C (p.Leu6713Ser) c.46181T>C (p.Leu15394Ser) c.41579T>C (p.Leu13860Ser) c.41576T>C (p.Leu13859Ser) c.38618T>C (p.Leu12873Ser) c.20234T>C (p.Leu6745Ser) c.41729T>C (p.Leu13910Ser) c.41726T>C (p.Leu13909Ser) c.41159T>C (p.Leu13720Ser) c.38501T>C (p.Leu12834Ser) c.38420T>C (p.Leu12807Ser) c.20183T>C (p.Leu6728Ser) c.10037T>C (p.Leu3346Ser) | |
2 | g.178618063A>T | CA349618261 | TTN,TTN-AS1 | c.39584T>A (p.Leu13195Ter) c.20669T>A (p.Leu6890Ter) c.20468T>A (p.Leu6823Ter) c.20093T>A (p.Leu6698Ter) c.47288T>A (p.Leu15763Ter) c.42365T>A (p.Leu14122Ter) n.1605-1690A>T c.46385T>A (p.Leu15462Ter) c.20279T>A (p.Leu6760Ter) c.20138T>A (p.Leu6713Ter) c.46181T>A (p.Leu15394Ter) c.41579T>A (p.Leu13860Ter) c.41576T>A (p.Leu13859Ter) c.38618T>A (p.Leu12873Ter) c.20234T>A (p.Leu6745Ter) c.41729T>A (p.Leu13910Ter) c.41726T>A (p.Leu13909Ter) c.41159T>A (p.Leu13720Ter) c.38501T>A (p.Leu12834Ter) c.38420T>A (p.Leu12807Ter) c.20183T>A (p.Leu6728Ter) c.10037T>A (p.Leu3346Ter) | |
2 | g.178618064A= | CA1310550897 | TTN,TTN-AS1 | c.39583T= (p.Leu13195=) c.20668T= (p.Leu6890=) c.20467T= (p.Leu6823=) c.20092T= (p.Leu6698=) c.47287T= (p.Leu15763=) c.42364T= (p.Leu14122=) n.1605-1689A= c.46384T= (p.Leu15462=) c.20278T= (p.Leu6760=) c.20137T= (p.Leu6713=) c.46180T= (p.Leu15394=) c.41578T= (p.Leu13860=) c.41575T= (p.Leu13859=) c.38617T= (p.Leu12873=) c.20233T= (p.Leu6745=) c.41728T= (p.Leu13910=) c.41725T= (p.Leu13909=) c.41158T= (p.Leu13720=) c.38500T= (p.Leu12834=) c.38419T= (p.Leu12807=) c.20182T= (p.Leu6728=) c.10036T= (p.Leu3346=) | |
2 | g.178618064A>C | CA349618264 | TTN,TTN-AS1 | c.39583T>G (p.Leu13195Val) c.20668T>G (p.Leu6890Val) c.20467T>G (p.Leu6823Val) c.20092T>G (p.Leu6698Val) c.47287T>G (p.Leu15763Val) c.42364T>G (p.Leu14122Val) n.1605-1689A>C c.46384T>G (p.Leu15462Val) c.20278T>G (p.Leu6760Val) c.20137T>G (p.Leu6713Val) c.46180T>G (p.Leu15394Val) c.41578T>G (p.Leu13860Val) c.41575T>G (p.Leu13859Val) c.38617T>G (p.Leu12873Val) c.20233T>G (p.Leu6745Val) c.41728T>G (p.Leu13910Val) c.41725T>G (p.Leu13909Val) c.41158T>G (p.Leu13720Val) c.38500T>G (p.Leu12834Val) c.38419T>G (p.Leu12807Val) c.20182T>G (p.Leu6728Val) c.10036T>G (p.Leu3346Val) | gnomAD v4 |
2 | g.178618064A>G | CA430274513 | TTN,TTN-AS1 | c.39583T>C (p.Leu13195=) c.20668T>C (p.Leu6890=) c.20467T>C (p.Leu6823=) c.20092T>C (p.Leu6698=) c.47287T>C (p.Leu15763=) c.42364T>C (p.Leu14122=) n.1605-1689A>G c.46384T>C (p.Leu15462=) c.20278T>C (p.Leu6760=) c.20137T>C (p.Leu6713=) c.46180T>C (p.Leu15394=) c.41578T>C (p.Leu13860=) c.41575T>C (p.Leu13859=) c.38617T>C (p.Leu12873=) c.20233T>C (p.Leu6745=) c.41728T>C (p.Leu13910=) c.41725T>C (p.Leu13909=) c.41158T>C (p.Leu13720=) c.38500T>C (p.Leu12834=) c.38419T>C (p.Leu12807=) c.20182T>C (p.Leu6728=) c.10036T>C (p.Leu3346=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178618064A>T | CA349618266 | TTN,TTN-AS1 | c.39583T>A (p.Leu13195Met) c.20668T>A (p.Leu6890Met) c.20467T>A (p.Leu6823Met) c.20092T>A (p.Leu6698Met) c.47287T>A (p.Leu15763Met) c.42364T>A (p.Leu14122Met) n.1605-1689A>T c.46384T>A (p.Leu15462Met) c.20278T>A (p.Leu6760Met) c.20137T>A (p.Leu6713Met) c.46180T>A (p.Leu15394Met) c.41578T>A (p.Leu13860Met) c.41575T>A (p.Leu13859Met) c.38617T>A (p.Leu12873Met) c.20233T>A (p.Leu6745Met) c.41728T>A (p.Leu13910Met) c.41725T>A (p.Leu13909Met) c.41158T>A (p.Leu13720Met) c.38500T>A (p.Leu12834Met) c.38419T>A (p.Leu12807Met) c.20182T>A (p.Leu6728Met) c.10036T>A (p.Leu3346Met) | |
2 | g.178618065A>C | CA430274515 | TTN,TTN-AS1 | c.39582T>G (p.Pro13194=) c.20667T>G (p.Pro6889=) c.20466T>G (p.Pro6822=) c.20091T>G (p.Pro6697=) c.47286T>G (p.Pro15762=) c.42363T>G (p.Pro14121=) n.1605-1688A>C c.46383T>G (p.Pro15461=) c.20277T>G (p.Pro6759=) c.20136T>G (p.Pro6712=) c.46179T>G (p.Pro15393=) c.41577T>G (p.Pro13859=) c.41574T>G (p.Pro13858=) c.38616T>G (p.Pro12872=) c.20232T>G (p.Pro6744=) c.41727T>G (p.Pro13909=) c.41724T>G (p.Pro13908=) c.41157T>G (p.Pro13719=) c.38499T>G (p.Pro12833=) c.38418T>G (p.Pro12806=) c.20181T>G (p.Pro6727=) c.10035T>G (p.Pro3345=) | gnomAD v4 |
2 | g.178618065A>G | CA430274519 | TTN,TTN-AS1 | c.39582T>C (p.Pro13194=) c.20667T>C (p.Pro6889=) c.20466T>C (p.Pro6822=) c.20091T>C (p.Pro6697=) c.47286T>C (p.Pro15762=) c.42363T>C (p.Pro14121=) n.1605-1688A>G c.46383T>C (p.Pro15461=) c.20277T>C (p.Pro6759=) c.20136T>C (p.Pro6712=) c.46179T>C (p.Pro15393=) c.41577T>C (p.Pro13859=) c.41574T>C (p.Pro13858=) c.38616T>C (p.Pro12872=) c.20232T>C (p.Pro6744=) c.41727T>C (p.Pro13909=) c.41724T>C (p.Pro13908=) c.41157T>C (p.Pro13719=) c.38499T>C (p.Pro12833=) c.38418T>C (p.Pro12806=) c.20181T>C (p.Pro6727=) c.10035T>C (p.Pro3345=) | |
2 | g.178618065A>T | CA430274516 | TTN,TTN-AS1 | c.39582T>A (p.Pro13194=) c.20667T>A (p.Pro6889=) c.20466T>A (p.Pro6822=) c.20091T>A (p.Pro6697=) c.47286T>A (p.Pro15762=) c.42363T>A (p.Pro14121=) n.1605-1688A>T c.46383T>A (p.Pro15461=) c.20277T>A (p.Pro6759=) c.20136T>A (p.Pro6712=) c.46179T>A (p.Pro15393=) c.41577T>A (p.Pro13859=) c.41574T>A (p.Pro13858=) c.38616T>A (p.Pro12872=) c.20232T>A (p.Pro6744=) c.41727T>A (p.Pro13909=) c.41724T>A (p.Pro13908=) c.41157T>A (p.Pro13719=) c.38499T>A (p.Pro12833=) c.38418T>A (p.Pro12806=) c.20181T>A (p.Pro6727=) c.10035T>A (p.Pro3345=) | |
2 | g.178618066G>A | CA349618268 | TTN,TTN-AS1 | c.39581C>T (p.Pro13194Leu) c.20666C>T (p.Pro6889Leu) c.20465C>T (p.Pro6822Leu) c.20090C>T (p.Pro6697Leu) c.47285C>T (p.Pro15762Leu) c.42362C>T (p.Pro14121Leu) n.1605-1687G>A c.46382C>T (p.Pro15461Leu) c.20276C>T (p.Pro6759Leu) c.20135C>T (p.Pro6712Leu) c.46178C>T (p.Pro15393Leu) c.41576C>T (p.Pro13859Leu) c.41573C>T (p.Pro13858Leu) c.38615C>T (p.Pro12872Leu) c.20231C>T (p.Pro6744Leu) c.41726C>T (p.Pro13909Leu) c.41723C>T (p.Pro13908Leu) c.41156C>T (p.Pro13719Leu) c.38498C>T (p.Pro12833Leu) c.38417C>T (p.Pro12806Leu) c.20180C>T (p.Pro6727Leu) c.10034C>T (p.Pro3345Leu) | |
2 | g.178618066G>C | CA349618271 | TTN,TTN-AS1 | c.39581C>G (p.Pro13194Arg) c.20666C>G (p.Pro6889Arg) c.20465C>G (p.Pro6822Arg) c.20090C>G (p.Pro6697Arg) c.47285C>G (p.Pro15762Arg) c.42362C>G (p.Pro14121Arg) n.1605-1687G>C c.46382C>G (p.Pro15461Arg) c.20276C>G (p.Pro6759Arg) c.20135C>G (p.Pro6712Arg) c.46178C>G (p.Pro15393Arg) c.41576C>G (p.Pro13859Arg) c.41573C>G (p.Pro13858Arg) c.38615C>G (p.Pro12872Arg) c.20231C>G (p.Pro6744Arg) c.41726C>G (p.Pro13909Arg) c.41723C>G (p.Pro13908Arg) c.41156C>G (p.Pro13719Arg) c.38498C>G (p.Pro12833Arg) c.38417C>G (p.Pro12806Arg) c.20180C>G (p.Pro6727Arg) c.10034C>G (p.Pro3345Arg) | |
2 | g.178618066G>T | CA349618274 | TTN,TTN-AS1 | c.39581C>A (p.Pro13194His) c.20666C>A (p.Pro6889His) c.20465C>A (p.Pro6822His) c.20090C>A (p.Pro6697His) c.47285C>A (p.Pro15762His) c.42362C>A (p.Pro14121His) n.1605-1687G>T c.46382C>A (p.Pro15461His) c.20276C>A (p.Pro6759His) c.20135C>A (p.Pro6712His) c.46178C>A (p.Pro15393His) c.41576C>A (p.Pro13859His) c.41573C>A (p.Pro13858His) c.38615C>A (p.Pro12872His) c.20231C>A (p.Pro6744His) c.41726C>A (p.Pro13909His) c.41723C>A (p.Pro13908His) c.41156C>A (p.Pro13719His) c.38498C>A (p.Pro12833His) c.38417C>A (p.Pro12806His) c.20180C>A (p.Pro6727His) c.10034C>A (p.Pro3345His) | |
2 | g.178618067del | CA2580065397 | TTN,TTN-AS1 | c.39581del (p.Pro13194LeufsTer2) c.20666del (p.Pro6889LeufsTer2) c.20465del (p.Pro6822LeufsTer2) c.20090del (p.Pro6697LeufsTer2) c.47285del (p.Pro15762LeufsTer2) c.42362del (p.Pro14121LeufsTer2) n.1605-1686del c.46382del (p.Pro15461LeufsTer2) c.20276del (p.Pro6759LeufsTer2) c.20135del (p.Pro6712LeufsTer2) c.46178del (p.Pro15393LeufsTer2) c.41576del (p.Pro13859LeufsTer2) c.41573del (p.Pro13858LeufsTer2) c.38615del (p.Pro12872LeufsTer2) c.20231del (p.Pro6744LeufsTer2) c.41726del (p.Pro13909LeufsTer2) c.41723del (p.Pro13908LeufsTer2) c.41156del (p.Pro13719LeufsTer2) c.38498del (p.Pro12833LeufsTer2) c.38417del (p.Pro12806LeufsTer2) c.20180del (p.Pro6727LeufsTer2) c.10034del (p.Pro3345LeufsTer2) | ClinVar |
2 | g.178618067G>A | CA349618277 | TTN,TTN-AS1 | c.39580C>T (p.Pro13194Ser) c.20665C>T (p.Pro6889Ser) c.20464C>T (p.Pro6822Ser) c.20089C>T (p.Pro6697Ser) c.47284C>T (p.Pro15762Ser) c.42361C>T (p.Pro14121Ser) n.1605-1686G>A c.46381C>T (p.Pro15461Ser) c.20275C>T (p.Pro6759Ser) c.20134C>T (p.Pro6712Ser) c.46177C>T (p.Pro15393Ser) c.41575C>T (p.Pro13859Ser) c.41572C>T (p.Pro13858Ser) c.38614C>T (p.Pro12872Ser) c.20230C>T (p.Pro6744Ser) c.41725C>T (p.Pro13909Ser) c.41722C>T (p.Pro13908Ser) c.41155C>T (p.Pro13719Ser) c.38497C>T (p.Pro12833Ser) c.38416C>T (p.Pro12806Ser) c.20179C>T (p.Pro6727Ser) c.10033C>T (p.Pro3345Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178618067G>C | CA349618280 | TTN,TTN-AS1 | c.39580C>G (p.Pro13194Ala) c.20665C>G (p.Pro6889Ala) c.20464C>G (p.Pro6822Ala) c.20089C>G (p.Pro6697Ala) c.47284C>G (p.Pro15762Ala) c.42361C>G (p.Pro14121Ala) n.1605-1686G>C c.46381C>G (p.Pro15461Ala) c.20275C>G (p.Pro6759Ala) c.20134C>G (p.Pro6712Ala) c.46177C>G (p.Pro15393Ala) c.41575C>G (p.Pro13859Ala) c.41572C>G (p.Pro13858Ala) c.38614C>G (p.Pro12872Ala) c.20230C>G (p.Pro6744Ala) c.41725C>G (p.Pro13909Ala) c.41722C>G (p.Pro13908Ala) c.41155C>G (p.Pro13719Ala) c.38497C>G (p.Pro12833Ala) c.38416C>G (p.Pro12806Ala) c.20179C>G (p.Pro6727Ala) c.10033C>G (p.Pro3345Ala) | gnomAD v4 |
2 | g.178618067G= | CA1310550898 | TTN,TTN-AS1 | c.39580C= (p.Pro13194=) c.20665C= (p.Pro6889=) c.20464C= (p.Pro6822=) c.20089C= (p.Pro6697=) c.47284C= (p.Pro15762=) c.42361C= (p.Pro14121=) n.1605-1686G= c.46381C= (p.Pro15461=) c.20275C= (p.Pro6759=) c.20134C= (p.Pro6712=) c.46177C= (p.Pro15393=) c.41575C= (p.Pro13859=) c.41572C= (p.Pro13858=) c.38614C= (p.Pro12872=) c.20230C= (p.Pro6744=) c.41725C= (p.Pro13909=) c.41722C= (p.Pro13908=) c.41155C= (p.Pro13719=) c.38497C= (p.Pro12833=) c.38416C= (p.Pro12806=) c.20179C= (p.Pro6727=) c.10033C= (p.Pro3345=) | |
2 | g.178618067G>T | CA349618290 | TTN,TTN-AS1 | c.39580C>A (p.Pro13194Thr) c.20665C>A (p.Pro6889Thr) c.20464C>A (p.Pro6822Thr) c.20089C>A (p.Pro6697Thr) c.47284C>A (p.Pro15762Thr) c.42361C>A (p.Pro14121Thr) n.1605-1686G>T c.46381C>A (p.Pro15461Thr) c.20275C>A (p.Pro6759Thr) c.20134C>A (p.Pro6712Thr) c.46177C>A (p.Pro15393Thr) c.41575C>A (p.Pro13859Thr) c.41572C>A (p.Pro13858Thr) c.38614C>A (p.Pro12872Thr) c.20230C>A (p.Pro6744Thr) c.41725C>A (p.Pro13909Thr) c.41722C>A (p.Pro13908Thr) c.41155C>A (p.Pro13719Thr) c.38497C>A (p.Pro12833Thr) c.38416C>A (p.Pro12806Thr) c.20179C>A (p.Pro6727Thr) c.10033C>A (p.Pro3345Thr) | |
2 | g.178618068A>C | CA430274523 | TTN,TTN-AS1 | c.39579T>G (p.Pro13193=) c.20664T>G (p.Pro6888=) c.20463T>G (p.Pro6821=) c.20088T>G (p.Pro6696=) c.47283T>G (p.Pro15761=) c.42360T>G (p.Pro14120=) n.1605-1685A>C c.46380T>G (p.Pro15460=) c.20274T>G (p.Pro6758=) c.20133T>G (p.Pro6711=) c.46176T>G (p.Pro15392=) c.41574T>G (p.Pro13858=) c.41571T>G (p.Pro13857=) c.38613T>G (p.Pro12871=) c.20229T>G (p.Pro6743=) c.41724T>G (p.Pro13908=) c.41721T>G (p.Pro13907=) c.41154T>G (p.Pro13718=) c.38496T>G (p.Pro12832=) c.38415T>G (p.Pro12805=) c.20178T>G (p.Pro6726=) c.10032T>G (p.Pro3344=) | |
2 | g.178618068A>G | CA430274524 | TTN,TTN-AS1 | c.39579T>C (p.Pro13193=) c.20664T>C (p.Pro6888=) c.20463T>C (p.Pro6821=) c.20088T>C (p.Pro6696=) c.47283T>C (p.Pro15761=) c.42360T>C (p.Pro14120=) n.1605-1685A>G c.46380T>C (p.Pro15460=) c.20274T>C (p.Pro6758=) c.20133T>C (p.Pro6711=) c.46176T>C (p.Pro15392=) c.41574T>C (p.Pro13858=) c.41571T>C (p.Pro13857=) c.38613T>C (p.Pro12871=) c.20229T>C (p.Pro6743=) c.41724T>C (p.Pro13908=) c.41721T>C (p.Pro13907=) c.41154T>C (p.Pro13718=) c.38496T>C (p.Pro12832=) c.38415T>C (p.Pro12805=) c.20178T>C (p.Pro6726=) c.10032T>C (p.Pro3344=) | |
2 | g.178618068A>T | CA430274525 | TTN,TTN-AS1 | c.39579T>A (p.Pro13193=) c.20664T>A (p.Pro6888=) c.20463T>A (p.Pro6821=) c.20088T>A (p.Pro6696=) c.47283T>A (p.Pro15761=) c.42360T>A (p.Pro14120=) n.1605-1685A>T c.46380T>A (p.Pro15460=) c.20274T>A (p.Pro6758=) c.20133T>A (p.Pro6711=) c.46176T>A (p.Pro15392=) c.41574T>A (p.Pro13858=) c.41571T>A (p.Pro13857=) c.38613T>A (p.Pro12871=) c.20229T>A (p.Pro6743=) c.41724T>A (p.Pro13908=) c.41721T>A (p.Pro13907=) c.41154T>A (p.Pro13718=) c.38496T>A (p.Pro12832=) c.38415T>A (p.Pro12805=) c.20178T>A (p.Pro6726=) c.10032T>A (p.Pro3344=) | |
2 | g.178618069G>A | CA349618293 | TTN,TTN-AS1 | c.39578C>T (p.Pro13193Leu) c.20663C>T (p.Pro6888Leu) c.20462C>T (p.Pro6821Leu) c.20087C>T (p.Pro6696Leu) c.47282C>T (p.Pro15761Leu) c.42359C>T (p.Pro14120Leu) n.1605-1684G>A c.46379C>T (p.Pro15460Leu) c.20273C>T (p.Pro6758Leu) c.20132C>T (p.Pro6711Leu) c.46175C>T (p.Pro15392Leu) c.41573C>T (p.Pro13858Leu) c.41570C>T (p.Pro13857Leu) c.38612C>T (p.Pro12871Leu) c.20228C>T (p.Pro6743Leu) c.41723C>T (p.Pro13908Leu) c.41720C>T (p.Pro13907Leu) c.41153C>T (p.Pro13718Leu) c.38495C>T (p.Pro12832Leu) c.38414C>T (p.Pro12805Leu) c.20177C>T (p.Pro6726Leu) c.10031C>T (p.Pro3344Leu) | gnomAD v4 |
2 | g.178618069G>C | CA349618299 | TTN,TTN-AS1 | c.39578C>G (p.Pro13193Arg) c.20663C>G (p.Pro6888Arg) c.20462C>G (p.Pro6821Arg) c.20087C>G (p.Pro6696Arg) c.47282C>G (p.Pro15761Arg) c.42359C>G (p.Pro14120Arg) n.1605-1684G>C c.46379C>G (p.Pro15460Arg) c.20273C>G (p.Pro6758Arg) c.20132C>G (p.Pro6711Arg) c.46175C>G (p.Pro15392Arg) c.41573C>G (p.Pro13858Arg) c.41570C>G (p.Pro13857Arg) c.38612C>G (p.Pro12871Arg) c.20228C>G (p.Pro6743Arg) c.41723C>G (p.Pro13908Arg) c.41720C>G (p.Pro13907Arg) c.41153C>G (p.Pro13718Arg) c.38495C>G (p.Pro12832Arg) c.38414C>G (p.Pro12805Arg) c.20177C>G (p.Pro6726Arg) c.10031C>G (p.Pro3344Arg) | |
2 | g.178618069G>T | CA349618313 | TTN,TTN-AS1 | c.39578C>A (p.Pro13193His) c.20663C>A (p.Pro6888His) c.20462C>A (p.Pro6821His) c.20087C>A (p.Pro6696His) c.47282C>A (p.Pro15761His) c.42359C>A (p.Pro14120His) n.1605-1684G>T c.46379C>A (p.Pro15460His) c.20273C>A (p.Pro6758His) c.20132C>A (p.Pro6711His) c.46175C>A (p.Pro15392His) c.41573C>A (p.Pro13858His) c.41570C>A (p.Pro13857His) c.38612C>A (p.Pro12871His) c.20228C>A (p.Pro6743His) c.41723C>A (p.Pro13908His) c.41720C>A (p.Pro13907His) c.41153C>A (p.Pro13718His) c.38495C>A (p.Pro12832His) c.38414C>A (p.Pro12805His) c.20177C>A (p.Pro6726His) c.10031C>A (p.Pro3344His) | |
2 | g.178618070G>A | CA1995072 | TTN,TTN-AS1 | c.39577C>T (p.Pro13193Ser) c.20662C>T (p.Pro6888Ser) c.20461C>T (p.Pro6821Ser) c.20086C>T (p.Pro6696Ser) c.47281C>T (p.Pro15761Ser) c.42358C>T (p.Pro14120Ser) n.1605-1683G>A c.46378C>T (p.Pro15460Ser) c.20272C>T (p.Pro6758Ser) c.20131C>T (p.Pro6711Ser) c.46174C>T (p.Pro15392Ser) c.41572C>T (p.Pro13858Ser) c.41569C>T (p.Pro13857Ser) c.38611C>T (p.Pro12871Ser) c.20227C>T (p.Pro6743Ser) c.41722C>T (p.Pro13908Ser) c.41719C>T (p.Pro13907Ser) c.41152C>T (p.Pro13718Ser) c.38494C>T (p.Pro12832Ser) c.38413C>T (p.Pro12805Ser) c.20176C>T (p.Pro6726Ser) c.10030C>T (p.Pro3344Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618070G>C | CA349618327 | TTN,TTN-AS1 | c.39577C>G (p.Pro13193Ala) c.20662C>G (p.Pro6888Ala) c.20461C>G (p.Pro6821Ala) c.20086C>G (p.Pro6696Ala) c.47281C>G (p.Pro15761Ala) c.42358C>G (p.Pro14120Ala) n.1605-1683G>C c.46378C>G (p.Pro15460Ala) c.20272C>G (p.Pro6758Ala) c.20131C>G (p.Pro6711Ala) c.46174C>G (p.Pro15392Ala) c.41572C>G (p.Pro13858Ala) c.41569C>G (p.Pro13857Ala) c.38611C>G (p.Pro12871Ala) c.20227C>G (p.Pro6743Ala) c.41722C>G (p.Pro13908Ala) c.41719C>G (p.Pro13907Ala) c.41152C>G (p.Pro13718Ala) c.38494C>G (p.Pro12832Ala) c.38413C>G (p.Pro12805Ala) c.20176C>G (p.Pro6726Ala) c.10030C>G (p.Pro3344Ala) | |
2 | g.178618070G= | CA1310550899 | TTN,TTN-AS1 | c.39577C= (p.Pro13193=) c.20662C= (p.Pro6888=) c.20461C= (p.Pro6821=) c.20086C= (p.Pro6696=) c.47281C= (p.Pro15761=) c.42358C= (p.Pro14120=) n.1605-1683G= c.46378C= (p.Pro15460=) c.20272C= (p.Pro6758=) c.20131C= (p.Pro6711=) c.46174C= (p.Pro15392=) c.41572C= (p.Pro13858=) c.41569C= (p.Pro13857=) c.38611C= (p.Pro12871=) c.20227C= (p.Pro6743=) c.41722C= (p.Pro13908=) c.41719C= (p.Pro13907=) c.41152C= (p.Pro13718=) c.38494C= (p.Pro12832=) c.38413C= (p.Pro12805=) c.20176C= (p.Pro6726=) c.10030C= (p.Pro3344=) | |
2 | g.178618070G>T | CA349618326 | TTN,TTN-AS1 | c.39577C>A (p.Pro13193Thr) c.20662C>A (p.Pro6888Thr) c.20461C>A (p.Pro6821Thr) c.20086C>A (p.Pro6696Thr) c.47281C>A (p.Pro15761Thr) c.42358C>A (p.Pro14120Thr) n.1605-1683G>T c.46378C>A (p.Pro15460Thr) c.20272C>A (p.Pro6758Thr) c.20131C>A (p.Pro6711Thr) c.46174C>A (p.Pro15392Thr) c.41572C>A (p.Pro13858Thr) c.41569C>A (p.Pro13857Thr) c.38611C>A (p.Pro12871Thr) c.20227C>A (p.Pro6743Thr) c.41722C>A (p.Pro13908Thr) c.41719C>A (p.Pro13907Thr) c.41152C>A (p.Pro13718Thr) c.38494C>A (p.Pro12832Thr) c.38413C>A (p.Pro12805Thr) c.20176C>A (p.Pro6726Thr) c.10030C>A (p.Pro3344Thr) | |
2 | g.178618071G>A | CA430274531 | TTN,TTN-AS1 | c.39576C>T (p.Gly13192=) c.20661C>T (p.Gly6887=) c.20460C>T (p.Gly6820=) c.20085C>T (p.Gly6695=) c.47280C>T (p.Gly15760=) c.42357C>T (p.Gly14119=) n.1605-1682G>A c.46377C>T (p.Gly15459=) c.20271C>T (p.Gly6757=) c.20130C>T (p.Gly6710=) c.46173C>T (p.Gly15391=) c.41571C>T (p.Gly13857=) c.41568C>T (p.Gly13856=) c.38610C>T (p.Gly12870=) c.20226C>T (p.Gly6742=) c.41721C>T (p.Gly13907=) c.41718C>T (p.Gly13906=) c.41151C>T (p.Gly13717=) c.38493C>T (p.Gly12831=) c.38412C>T (p.Gly12804=) c.20175C>T (p.Gly6725=) c.10029C>T (p.Gly3343=) | |
2 | g.178618071G>C | CA430274532 | TTN,TTN-AS1 | c.39576C>G (p.Gly13192=) c.20661C>G (p.Gly6887=) c.20460C>G (p.Gly6820=) c.20085C>G (p.Gly6695=) c.47280C>G (p.Gly15760=) c.42357C>G (p.Gly14119=) n.1605-1682G>C c.46377C>G (p.Gly15459=) c.20271C>G (p.Gly6757=) c.20130C>G (p.Gly6710=) c.46173C>G (p.Gly15391=) c.41571C>G (p.Gly13857=) c.41568C>G (p.Gly13856=) c.38610C>G (p.Gly12870=) c.20226C>G (p.Gly6742=) c.41721C>G (p.Gly13907=) c.41718C>G (p.Gly13906=) c.41151C>G (p.Gly13717=) c.38493C>G (p.Gly12831=) c.38412C>G (p.Gly12804=) c.20175C>G (p.Gly6725=) c.10029C>G (p.Gly3343=) | |
2 | g.178618071G= | CA1310550900 | TTN,TTN-AS1 | c.39576C= (p.Gly13192=) c.20661C= (p.Gly6887=) c.20460C= (p.Gly6820=) c.20085C= (p.Gly6695=) c.47280C= (p.Gly15760=) c.42357C= (p.Gly14119=) n.1605-1682G= c.46377C= (p.Gly15459=) c.20271C= (p.Gly6757=) c.20130C= (p.Gly6710=) c.46173C= (p.Gly15391=) c.41571C= (p.Gly13857=) c.41568C= (p.Gly13856=) c.38610C= (p.Gly12870=) c.20226C= (p.Gly6742=) c.41721C= (p.Gly13907=) c.41718C= (p.Gly13906=) c.41151C= (p.Gly13717=) c.38493C= (p.Gly12831=) c.38412C= (p.Gly12804=) c.20175C= (p.Gly6725=) c.10029C= (p.Gly3343=) | |
2 | g.178618071G>T | CA430274533 | TTN,TTN-AS1 | c.39576C>A (p.Gly13192=) c.20661C>A (p.Gly6887=) c.20460C>A (p.Gly6820=) c.20085C>A (p.Gly6695=) c.47280C>A (p.Gly15760=) c.42357C>A (p.Gly14119=) n.1605-1682G>T c.46377C>A (p.Gly15459=) c.20271C>A (p.Gly6757=) c.20130C>A (p.Gly6710=) c.46173C>A (p.Gly15391=) c.41571C>A (p.Gly13857=) c.41568C>A (p.Gly13856=) c.38610C>A (p.Gly12870=) c.20226C>A (p.Gly6742=) c.41721C>A (p.Gly13907=) c.41718C>A (p.Gly13906=) c.41151C>A (p.Gly13717=) c.38493C>A (p.Gly12831=) c.38412C>A (p.Gly12804=) c.20175C>A (p.Gly6725=) c.10029C>A (p.Gly3343=) | dbSNP |
2 | g.178618072C>A | CA349618329 | TTN,TTN-AS1 | c.39575G>T (p.Gly13192Val) c.20660G>T (p.Gly6887Val) c.20459G>T (p.Gly6820Val) c.20084G>T (p.Gly6695Val) c.47279G>T (p.Gly15760Val) c.42356G>T (p.Gly14119Val) n.1605-1681C>A c.46376G>T (p.Gly15459Val) c.20270G>T (p.Gly6757Val) c.20129G>T (p.Gly6710Val) c.46172G>T (p.Gly15391Val) c.41570G>T (p.Gly13857Val) c.41567G>T (p.Gly13856Val) c.38609G>T (p.Gly12870Val) c.20225G>T (p.Gly6742Val) c.41720G>T (p.Gly13907Val) c.41717G>T (p.Gly13906Val) c.41150G>T (p.Gly13717Val) c.38492G>T (p.Gly12831Val) c.38411G>T (p.Gly12804Val) c.20174G>T (p.Gly6725Val) c.10028G>T (p.Gly3343Val) | |
2 | g.178618072C= | CA1310550901 | TTN,TTN-AS1 | c.39575G= (p.Gly13192=) c.20660G= (p.Gly6887=) c.20459G= (p.Gly6820=) c.20084G= (p.Gly6695=) c.47279G= (p.Gly15760=) c.42356G= (p.Gly14119=) n.1605-1681C= c.46376G= (p.Gly15459=) c.20270G= (p.Gly6757=) c.20129G= (p.Gly6710=) c.46172G= (p.Gly15391=) c.41570G= (p.Gly13857=) c.41567G= (p.Gly13856=) c.38609G= (p.Gly12870=) c.20225G= (p.Gly6742=) c.41720G= (p.Gly13907=) c.41717G= (p.Gly13906=) c.41150G= (p.Gly13717=) c.38492G= (p.Gly12831=) c.38411G= (p.Gly12804=) c.20174G= (p.Gly6725=) c.10028G= (p.Gly3343=) | |
2 | g.178618072C>G | CA349618334 | TTN,TTN-AS1 | c.39575G>C (p.Gly13192Ala) c.20660G>C (p.Gly6887Ala) c.20459G>C (p.Gly6820Ala) c.20084G>C (p.Gly6695Ala) c.47279G>C (p.Gly15760Ala) c.42356G>C (p.Gly14119Ala) n.1605-1681C>G c.46376G>C (p.Gly15459Ala) c.20270G>C (p.Gly6757Ala) c.20129G>C (p.Gly6710Ala) c.46172G>C (p.Gly15391Ala) c.41570G>C (p.Gly13857Ala) c.41567G>C (p.Gly13856Ala) c.38609G>C (p.Gly12870Ala) c.20225G>C (p.Gly6742Ala) c.41720G>C (p.Gly13907Ala) c.41717G>C (p.Gly13906Ala) c.41150G>C (p.Gly13717Ala) c.38492G>C (p.Gly12831Ala) c.38411G>C (p.Gly12804Ala) c.20174G>C (p.Gly6725Ala) c.10028G>C (p.Gly3343Ala) | gnomAD v4 |
2 | g.178618072C>T | CA1995073 | TTN,TTN-AS1 | c.39575G>A (p.Gly13192Asp) c.20660G>A (p.Gly6887Asp) c.20459G>A (p.Gly6820Asp) c.20084G>A (p.Gly6695Asp) c.47279G>A (p.Gly15760Asp) c.42356G>A (p.Gly14119Asp) n.1605-1681C>T c.46376G>A (p.Gly15459Asp) c.20270G>A (p.Gly6757Asp) c.20129G>A (p.Gly6710Asp) c.46172G>A (p.Gly15391Asp) c.41570G>A (p.Gly13857Asp) c.41567G>A (p.Gly13856Asp) c.38609G>A (p.Gly12870Asp) c.20225G>A (p.Gly6742Asp) c.41720G>A (p.Gly13907Asp) c.41717G>A (p.Gly13906Asp) c.41150G>A (p.Gly13717Asp) c.38492G>A (p.Gly12831Asp) c.38411G>A (p.Gly12804Asp) c.20174G>A (p.Gly6725Asp) c.10028G>A (p.Gly3343Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618073C>A | CA349618341 | TTN,TTN-AS1 | c.39574G>T (p.Gly13192Cys) c.20659G>T (p.Gly6887Cys) c.20458G>T (p.Gly6820Cys) c.20083G>T (p.Gly6695Cys) c.47278G>T (p.Gly15760Cys) c.42355G>T (p.Gly14119Cys) n.1605-1680C>A c.46375G>T (p.Gly15459Cys) c.20269G>T (p.Gly6757Cys) c.20128G>T (p.Gly6710Cys) c.46171G>T (p.Gly15391Cys) c.41569G>T (p.Gly13857Cys) c.41566G>T (p.Gly13856Cys) c.38608G>T (p.Gly12870Cys) c.20224G>T (p.Gly6742Cys) c.41719G>T (p.Gly13907Cys) c.41716G>T (p.Gly13906Cys) c.41149G>T (p.Gly13717Cys) c.38491G>T (p.Gly12831Cys) c.38410G>T (p.Gly12804Cys) c.20173G>T (p.Gly6725Cys) c.10027G>T (p.Gly3343Cys) | |
2 | g.178618073C= | CA1310550902 | TTN,TTN-AS1 | c.39574G= (p.Gly13192=) c.20659G= (p.Gly6887=) c.20458G= (p.Gly6820=) c.20083G= (p.Gly6695=) c.47278G= (p.Gly15760=) c.42355G= (p.Gly14119=) n.1605-1680C= c.46375G= (p.Gly15459=) c.20269G= (p.Gly6757=) c.20128G= (p.Gly6710=) c.46171G= (p.Gly15391=) c.41569G= (p.Gly13857=) c.41566G= (p.Gly13856=) c.38608G= (p.Gly12870=) c.20224G= (p.Gly6742=) c.41719G= (p.Gly13907=) c.41716G= (p.Gly13906=) c.41149G= (p.Gly13717=) c.38491G= (p.Gly12831=) c.38410G= (p.Gly12804=) c.20173G= (p.Gly6725=) c.10027G= (p.Gly3343=) | |
2 | g.178618073C>G | CA349618344 | TTN,TTN-AS1 | c.39574G>C (p.Gly13192Arg) c.20659G>C (p.Gly6887Arg) c.20458G>C (p.Gly6820Arg) c.20083G>C (p.Gly6695Arg) c.47278G>C (p.Gly15760Arg) c.42355G>C (p.Gly14119Arg) n.1605-1680C>G c.46375G>C (p.Gly15459Arg) c.20269G>C (p.Gly6757Arg) c.20128G>C (p.Gly6710Arg) c.46171G>C (p.Gly15391Arg) c.41569G>C (p.Gly13857Arg) c.41566G>C (p.Gly13856Arg) c.38608G>C (p.Gly12870Arg) c.20224G>C (p.Gly6742Arg) c.41719G>C (p.Gly13907Arg) c.41716G>C (p.Gly13906Arg) c.41149G>C (p.Gly13717Arg) c.38491G>C (p.Gly12831Arg) c.38410G>C (p.Gly12804Arg) c.20173G>C (p.Gly6725Arg) c.10027G>C (p.Gly3343Arg) | gnomAD v4 |
2 | g.178618073C>T | CA1995074 | TTN,TTN-AS1 | c.39574G>A (p.Gly13192Ser) c.20659G>A (p.Gly6887Ser) c.20458G>A (p.Gly6820Ser) c.20083G>A (p.Gly6695Ser) c.47278G>A (p.Gly15760Ser) c.42355G>A (p.Gly14119Ser) n.1605-1680C>T c.46375G>A (p.Gly15459Ser) c.20269G>A (p.Gly6757Ser) c.20128G>A (p.Gly6710Ser) c.46171G>A (p.Gly15391Ser) c.41569G>A (p.Gly13857Ser) c.41566G>A (p.Gly13856Ser) c.38608G>A (p.Gly12870Ser) c.20224G>A (p.Gly6742Ser) c.41719G>A (p.Gly13907Ser) c.41716G>A (p.Gly13906Ser) c.41149G>A (p.Gly13717Ser) c.38491G>A (p.Gly12831Ser) c.38410G>A (p.Gly12804Ser) c.20173G>A (p.Gly6725Ser) c.10027G>A (p.Gly3343Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618074T>A | CA430274539 | TTN,TTN-AS1 | c.39573A>T (p.Pro13191=) c.20658A>T (p.Pro6886=) c.20457A>T (p.Pro6819=) c.20082A>T (p.Pro6694=) c.47277A>T (p.Pro15759=) c.42354A>T (p.Pro14118=) n.1605-1679T>A c.46374A>T (p.Pro15458=) c.20268A>T (p.Pro6756=) c.20127A>T (p.Pro6709=) c.46170A>T (p.Pro15390=) c.41568A>T (p.Pro13856=) c.41565A>T (p.Pro13855=) c.38607A>T (p.Pro12869=) c.20223A>T (p.Pro6741=) c.41718A>T (p.Pro13906=) c.41715A>T (p.Pro13905=) c.41148A>T (p.Pro13716=) c.38490A>T (p.Pro12830=) c.38409A>T (p.Pro12803=) c.20172A>T (p.Pro6724=) c.10026A>T (p.Pro3342=) | |
2 | g.178618074T>C | CA430274541 | TTN,TTN-AS1 | c.39573A>G (p.Pro13191=) c.20658A>G (p.Pro6886=) c.20457A>G (p.Pro6819=) c.20082A>G (p.Pro6694=) c.47277A>G (p.Pro15759=) c.42354A>G (p.Pro14118=) n.1605-1679T>C c.46374A>G (p.Pro15458=) c.20268A>G (p.Pro6756=) c.20127A>G (p.Pro6709=) c.46170A>G (p.Pro15390=) c.41568A>G (p.Pro13856=) c.41565A>G (p.Pro13855=) c.38607A>G (p.Pro12869=) c.20223A>G (p.Pro6741=) c.41718A>G (p.Pro13906=) c.41715A>G (p.Pro13905=) c.41148A>G (p.Pro13716=) c.38490A>G (p.Pro12830=) c.38409A>G (p.Pro12803=) c.20172A>G (p.Pro6724=) c.10026A>G (p.Pro3342=) | |
2 | g.178618074T>G | CA430274543 | TTN,TTN-AS1 | c.39573A>C (p.Pro13191=) c.20658A>C (p.Pro6886=) c.20457A>C (p.Pro6819=) c.20082A>C (p.Pro6694=) c.47277A>C (p.Pro15759=) c.42354A>C (p.Pro14118=) n.1605-1679T>G c.46374A>C (p.Pro15458=) c.20268A>C (p.Pro6756=) c.20127A>C (p.Pro6709=) c.46170A>C (p.Pro15390=) c.41568A>C (p.Pro13856=) c.41565A>C (p.Pro13855=) c.38607A>C (p.Pro12869=) c.20223A>C (p.Pro6741=) c.41718A>C (p.Pro13906=) c.41715A>C (p.Pro13905=) c.41148A>C (p.Pro13716=) c.38490A>C (p.Pro12830=) c.38409A>C (p.Pro12803=) c.20172A>C (p.Pro6724=) c.10026A>C (p.Pro3342=) | |
2 | g.178618075G>A | CA349618359 | TTN,TTN-AS1 | c.39572C>T (p.Pro13191Leu) c.20657C>T (p.Pro6886Leu) c.20456C>T (p.Pro6819Leu) c.20081C>T (p.Pro6694Leu) c.47276C>T (p.Pro15759Leu) c.42353C>T (p.Pro14118Leu) n.1605-1678G>A c.46373C>T (p.Pro15458Leu) c.20267C>T (p.Pro6756Leu) c.20126C>T (p.Pro6709Leu) c.46169C>T (p.Pro15390Leu) c.41567C>T (p.Pro13856Leu) c.41564C>T (p.Pro13855Leu) c.38606C>T (p.Pro12869Leu) c.20222C>T (p.Pro6741Leu) c.41717C>T (p.Pro13906Leu) c.41714C>T (p.Pro13905Leu) c.41147C>T (p.Pro13716Leu) c.38489C>T (p.Pro12830Leu) c.38408C>T (p.Pro12803Leu) c.20171C>T (p.Pro6724Leu) c.10025C>T (p.Pro3342Leu) | |
2 | g.178618075G>C | CA349618360 | TTN,TTN-AS1 | c.39572C>G (p.Pro13191Arg) c.20657C>G (p.Pro6886Arg) c.20456C>G (p.Pro6819Arg) c.20081C>G (p.Pro6694Arg) c.47276C>G (p.Pro15759Arg) c.42353C>G (p.Pro14118Arg) n.1605-1678G>C c.46373C>G (p.Pro15458Arg) c.20267C>G (p.Pro6756Arg) c.20126C>G (p.Pro6709Arg) c.46169C>G (p.Pro15390Arg) c.41567C>G (p.Pro13856Arg) c.41564C>G (p.Pro13855Arg) c.38606C>G (p.Pro12869Arg) c.20222C>G (p.Pro6741Arg) c.41717C>G (p.Pro13906Arg) c.41714C>G (p.Pro13905Arg) c.41147C>G (p.Pro13716Arg) c.38489C>G (p.Pro12830Arg) c.38408C>G (p.Pro12803Arg) c.20171C>G (p.Pro6724Arg) c.10025C>G (p.Pro3342Arg) | |
2 | g.178618075G>T | CA349618364 | TTN,TTN-AS1 | c.39572C>A (p.Pro13191Gln) c.20657C>A (p.Pro6886Gln) c.20456C>A (p.Pro6819Gln) c.20081C>A (p.Pro6694Gln) c.47276C>A (p.Pro15759Gln) c.42353C>A (p.Pro14118Gln) n.1605-1678G>T c.46373C>A (p.Pro15458Gln) c.20267C>A (p.Pro6756Gln) c.20126C>A (p.Pro6709Gln) c.46169C>A (p.Pro15390Gln) c.41567C>A (p.Pro13856Gln) c.41564C>A (p.Pro13855Gln) c.38606C>A (p.Pro12869Gln) c.20222C>A (p.Pro6741Gln) c.41717C>A (p.Pro13906Gln) c.41714C>A (p.Pro13905Gln) c.41147C>A (p.Pro13716Gln) c.38489C>A (p.Pro12830Gln) c.38408C>A (p.Pro12803Gln) c.20171C>A (p.Pro6724Gln) c.10025C>A (p.Pro3342Gln) | |
2 | g.178618076G>A | CA349618367 | TTN,TTN-AS1 | c.39571C>T (p.Pro13191Ser) c.20656C>T (p.Pro6886Ser) c.20455C>T (p.Pro6819Ser) c.20080C>T (p.Pro6694Ser) c.47275C>T (p.Pro15759Ser) c.42352C>T (p.Pro14118Ser) n.1605-1677G>A c.46372C>T (p.Pro15458Ser) c.20266C>T (p.Pro6756Ser) c.20125C>T (p.Pro6709Ser) c.46168C>T (p.Pro15390Ser) c.41566C>T (p.Pro13856Ser) c.41563C>T (p.Pro13855Ser) c.38605C>T (p.Pro12869Ser) c.20221C>T (p.Pro6741Ser) c.41716C>T (p.Pro13906Ser) c.41713C>T (p.Pro13905Ser) c.41146C>T (p.Pro13716Ser) c.38488C>T (p.Pro12830Ser) c.38407C>T (p.Pro12803Ser) c.20170C>T (p.Pro6724Ser) c.10024C>T (p.Pro3342Ser) | |
2 | g.178618076G>C | CA349618369 | TTN,TTN-AS1 | c.39571C>G (p.Pro13191Ala) c.20656C>G (p.Pro6886Ala) c.20455C>G (p.Pro6819Ala) c.20080C>G (p.Pro6694Ala) c.47275C>G (p.Pro15759Ala) c.42352C>G (p.Pro14118Ala) n.1605-1677G>C c.46372C>G (p.Pro15458Ala) c.20266C>G (p.Pro6756Ala) c.20125C>G (p.Pro6709Ala) c.46168C>G (p.Pro15390Ala) c.41566C>G (p.Pro13856Ala) c.41563C>G (p.Pro13855Ala) c.38605C>G (p.Pro12869Ala) c.20221C>G (p.Pro6741Ala) c.41716C>G (p.Pro13906Ala) c.41713C>G (p.Pro13905Ala) c.41146C>G (p.Pro13716Ala) c.38488C>G (p.Pro12830Ala) c.38407C>G (p.Pro12803Ala) c.20170C>G (p.Pro6724Ala) c.10024C>G (p.Pro3342Ala) | |
2 | g.178618076G>T | CA349618373 | TTN,TTN-AS1 | c.39571C>A (p.Pro13191Thr) c.20656C>A (p.Pro6886Thr) c.20455C>A (p.Pro6819Thr) c.20080C>A (p.Pro6694Thr) c.47275C>A (p.Pro15759Thr) c.42352C>A (p.Pro14118Thr) n.1605-1677G>T c.46372C>A (p.Pro15458Thr) c.20266C>A (p.Pro6756Thr) c.20125C>A (p.Pro6709Thr) c.46168C>A (p.Pro15390Thr) c.41566C>A (p.Pro13856Thr) c.41563C>A (p.Pro13855Thr) c.38605C>A (p.Pro12869Thr) c.20221C>A (p.Pro6741Thr) c.41716C>A (p.Pro13906Thr) c.41713C>A (p.Pro13905Thr) c.41146C>A (p.Pro13716Thr) c.38488C>A (p.Pro12830Thr) c.38407C>A (p.Pro12803Thr) c.20170C>A (p.Pro6724Thr) c.10024C>A (p.Pro3342Thr) | |
2 | g.178618077A>C | CA430274547 | TTN,TTN-AS1 | c.39570T>G (p.Val13190=) c.20655T>G (p.Val6885=) c.20454T>G (p.Val6818=) c.20079T>G (p.Val6693=) c.47274T>G (p.Val15758=) c.42351T>G (p.Val14117=) n.1605-1676A>C c.46371T>G (p.Val15457=) c.20265T>G (p.Val6755=) c.20124T>G (p.Val6708=) c.46167T>G (p.Val15389=) c.41565T>G (p.Val13855=) c.41562T>G (p.Val13854=) c.38604T>G (p.Val12868=) c.20220T>G (p.Val6740=) c.41715T>G (p.Val13905=) c.41712T>G (p.Val13904=) c.41145T>G (p.Val13715=) c.38487T>G (p.Val12829=) c.38406T>G (p.Val12802=) c.20169T>G (p.Val6723=) c.10023T>G (p.Val3341=) | |
2 | g.178618077A>G | CA430274548 | TTN,TTN-AS1 | c.39570T>C (p.Val13190=) c.20655T>C (p.Val6885=) c.20454T>C (p.Val6818=) c.20079T>C (p.Val6693=) c.47274T>C (p.Val15758=) c.42351T>C (p.Val14117=) n.1605-1676A>G c.46371T>C (p.Val15457=) c.20265T>C (p.Val6755=) c.20124T>C (p.Val6708=) c.46167T>C (p.Val15389=) c.41565T>C (p.Val13855=) c.41562T>C (p.Val13854=) c.38604T>C (p.Val12868=) c.20220T>C (p.Val6740=) c.41715T>C (p.Val13905=) c.41712T>C (p.Val13904=) c.41145T>C (p.Val13715=) c.38487T>C (p.Val12829=) c.38406T>C (p.Val12802=) c.20169T>C (p.Val6723=) c.10023T>C (p.Val3341=) | |
2 | g.178618077A>T | CA430274549 | TTN,TTN-AS1 | c.39570T>A (p.Val13190=) c.20655T>A (p.Val6885=) c.20454T>A (p.Val6818=) c.20079T>A (p.Val6693=) c.47274T>A (p.Val15758=) c.42351T>A (p.Val14117=) n.1605-1676A>T c.46371T>A (p.Val15457=) c.20265T>A (p.Val6755=) c.20124T>A (p.Val6708=) c.46167T>A (p.Val15389=) c.41565T>A (p.Val13855=) c.41562T>A (p.Val13854=) c.38604T>A (p.Val12868=) c.20220T>A (p.Val6740=) c.41715T>A (p.Val13905=) c.41712T>A (p.Val13904=) c.41145T>A (p.Val13715=) c.38487T>A (p.Val12829=) c.38406T>A (p.Val12802=) c.20169T>A (p.Val6723=) c.10023T>A (p.Val3341=) | |
2 | g.178618078A= | CA1310550903 | TTN,TTN-AS1 | c.39569T= (p.Val13190=) c.20654T= (p.Val6885=) c.20453T= (p.Val6818=) c.20078T= (p.Val6693=) c.47273T= (p.Val15758=) c.42350T= (p.Val14117=) n.1605-1675A= c.46370T= (p.Val15457=) c.20264T= (p.Val6755=) c.20123T= (p.Val6708=) c.46166T= (p.Val15389=) c.41564T= (p.Val13855=) c.41561T= (p.Val13854=) c.38603T= (p.Val12868=) c.20219T= (p.Val6740=) c.41714T= (p.Val13905=) c.41711T= (p.Val13904=) c.41144T= (p.Val13715=) c.38486T= (p.Val12829=) c.38405T= (p.Val12802=) c.20168T= (p.Val6723=) c.10022T= (p.Val3341=) | |
2 | g.178618078A>C | CA60990553 | TTN,TTN-AS1 | c.39569T>G (p.Val13190Gly) c.20654T>G (p.Val6885Gly) c.20453T>G (p.Val6818Gly) c.20078T>G (p.Val6693Gly) c.47273T>G (p.Val15758Gly) c.42350T>G (p.Val14117Gly) n.1605-1675A>C c.46370T>G (p.Val15457Gly) c.20264T>G (p.Val6755Gly) c.20123T>G (p.Val6708Gly) c.46166T>G (p.Val15389Gly) c.41564T>G (p.Val13855Gly) c.41561T>G (p.Val13854Gly) c.38603T>G (p.Val12868Gly) c.20219T>G (p.Val6740Gly) c.41714T>G (p.Val13905Gly) c.41711T>G (p.Val13904Gly) c.41144T>G (p.Val13715Gly) c.38486T>G (p.Val12829Gly) c.38405T>G (p.Val12802Gly) c.20168T>G (p.Val6723Gly) c.10022T>G (p.Val3341Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178618078A>G | CA349618378 | TTN,TTN-AS1 | c.39569T>C (p.Val13190Ala) c.20654T>C (p.Val6885Ala) c.20453T>C (p.Val6818Ala) c.20078T>C (p.Val6693Ala) c.47273T>C (p.Val15758Ala) c.42350T>C (p.Val14117Ala) n.1605-1675A>G c.46370T>C (p.Val15457Ala) c.20264T>C (p.Val6755Ala) c.20123T>C (p.Val6708Ala) c.46166T>C (p.Val15389Ala) c.41564T>C (p.Val13855Ala) c.41561T>C (p.Val13854Ala) c.38603T>C (p.Val12868Ala) c.20219T>C (p.Val6740Ala) c.41714T>C (p.Val13905Ala) c.41711T>C (p.Val13904Ala) c.41144T>C (p.Val13715Ala) c.38486T>C (p.Val12829Ala) c.38405T>C (p.Val12802Ala) c.20168T>C (p.Val6723Ala) c.10022T>C (p.Val3341Ala) | |
2 | g.178618078A>T | CA349618381 | TTN,TTN-AS1 | c.39569T>A (p.Val13190Asp) c.20654T>A (p.Val6885Asp) c.20453T>A (p.Val6818Asp) c.20078T>A (p.Val6693Asp) c.47273T>A (p.Val15758Asp) c.42350T>A (p.Val14117Asp) n.1605-1675A>T c.46370T>A (p.Val15457Asp) c.20264T>A (p.Val6755Asp) c.20123T>A (p.Val6708Asp) c.46166T>A (p.Val15389Asp) c.41564T>A (p.Val13855Asp) c.41561T>A (p.Val13854Asp) c.38603T>A (p.Val12868Asp) c.20219T>A (p.Val6740Asp) c.41714T>A (p.Val13905Asp) c.41711T>A (p.Val13904Asp) c.41144T>A (p.Val13715Asp) c.38486T>A (p.Val12829Asp) c.38405T>A (p.Val12802Asp) c.20168T>A (p.Val6723Asp) c.10022T>A (p.Val3341Asp) | |
2 | g.178618079C>A | CA349618399 | TTN,TTN-AS1 | c.39568G>T (p.Val13190Phe) c.20653G>T (p.Val6885Phe) c.20452G>T (p.Val6818Phe) c.20077G>T (p.Val6693Phe) c.47272G>T (p.Val15758Phe) c.42349G>T (p.Val14117Phe) n.1605-1674C>A c.46369G>T (p.Val15457Phe) c.20263G>T (p.Val6755Phe) c.20122G>T (p.Val6708Phe) c.46165G>T (p.Val15389Phe) c.41563G>T (p.Val13855Phe) c.41560G>T (p.Val13854Phe) c.38602G>T (p.Val12868Phe) c.20218G>T (p.Val6740Phe) c.41713G>T (p.Val13905Phe) c.41710G>T (p.Val13904Phe) c.41143G>T (p.Val13715Phe) c.38485G>T (p.Val12829Phe) c.38404G>T (p.Val12802Phe) c.20167G>T (p.Val6723Phe) c.10021G>T (p.Val3341Phe) | |
2 | g.178618079C= | CA1310550904 | TTN,TTN-AS1 | c.39568G= (p.Val13190=) c.20653G= (p.Val6885=) c.20452G= (p.Val6818=) c.20077G= (p.Val6693=) c.47272G= (p.Val15758=) c.42349G= (p.Val14117=) n.1605-1674C= c.46369G= (p.Val15457=) c.20263G= (p.Val6755=) c.20122G= (p.Val6708=) c.46165G= (p.Val15389=) c.41563G= (p.Val13855=) c.41560G= (p.Val13854=) c.38602G= (p.Val12868=) c.20218G= (p.Val6740=) c.41713G= (p.Val13905=) c.41710G= (p.Val13904=) c.41143G= (p.Val13715=) c.38485G= (p.Val12829=) c.38404G= (p.Val12802=) c.20167G= (p.Val6723=) c.10021G= (p.Val3341=) | |
2 | g.178618079C>G | CA349618401 | TTN,TTN-AS1 | c.39568G>C (p.Val13190Leu) c.20653G>C (p.Val6885Leu) c.20452G>C (p.Val6818Leu) c.20077G>C (p.Val6693Leu) c.47272G>C (p.Val15758Leu) c.42349G>C (p.Val14117Leu) n.1605-1674C>G c.46369G>C (p.Val15457Leu) c.20263G>C (p.Val6755Leu) c.20122G>C (p.Val6708Leu) c.46165G>C (p.Val15389Leu) c.41563G>C (p.Val13855Leu) c.41560G>C (p.Val13854Leu) c.38602G>C (p.Val12868Leu) c.20218G>C (p.Val6740Leu) c.41713G>C (p.Val13905Leu) c.41710G>C (p.Val13904Leu) c.41143G>C (p.Val13715Leu) c.38485G>C (p.Val12829Leu) c.38404G>C (p.Val12802Leu) c.20167G>C (p.Val6723Leu) c.10021G>C (p.Val3341Leu) | |
2 | g.178618079C>T | CA349618402 | TTN,TTN-AS1 | c.39568G>A (p.Val13190Ile) c.20653G>A (p.Val6885Ile) c.20452G>A (p.Val6818Ile) c.20077G>A (p.Val6693Ile) c.47272G>A (p.Val15758Ile) c.42349G>A (p.Val14117Ile) n.1605-1674C>T c.46369G>A (p.Val15457Ile) c.20263G>A (p.Val6755Ile) c.20122G>A (p.Val6708Ile) c.46165G>A (p.Val15389Ile) c.41563G>A (p.Val13855Ile) c.41560G>A (p.Val13854Ile) c.38602G>A (p.Val12868Ile) c.20218G>A (p.Val6740Ile) c.41713G>A (p.Val13905Ile) c.41710G>A (p.Val13904Ile) c.41143G>A (p.Val13715Ile) c.38485G>A (p.Val12829Ile) c.38404G>A (p.Val12802Ile) c.20167G>A (p.Val6723Ile) c.10021G>A (p.Val3341Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178618080A= | CA1310550905 | TTN,TTN-AS1 | c.39567T= (p.Asp13189=) c.20652T= (p.Asp6884=) c.20451T= (p.Asp6817=) c.20076T= (p.Asp6692=) c.47271T= (p.Asp15757=) c.42348T= (p.Asp14116=) n.1605-1673A= c.46368T= (p.Asp15456=) c.20262T= (p.Asp6754=) c.20121T= (p.Asp6707=) c.46164T= (p.Asp15388=) c.41562T= (p.Asp13854=) c.41559T= (p.Asp13853=) c.38601T= (p.Asp12867=) c.20217T= (p.Asp6739=) c.41712T= (p.Asp13904=) c.41709T= (p.Asp13903=) c.41142T= (p.Asp13714=) c.38484T= (p.Asp12828=) c.38403T= (p.Asp12801=) c.20166T= (p.Asp6722=) c.10020T= (p.Asp3340=) | |
2 | g.178618080A>C | CA349618409 | TTN,TTN-AS1 | c.39567T>G (p.Asp13189Glu) c.20652T>G (p.Asp6884Glu) c.20451T>G (p.Asp6817Glu) c.20076T>G (p.Asp6692Glu) c.47271T>G (p.Asp15757Glu) c.42348T>G (p.Asp14116Glu) n.1605-1673A>C c.46368T>G (p.Asp15456Glu) c.20262T>G (p.Asp6754Glu) c.20121T>G (p.Asp6707Glu) c.46164T>G (p.Asp15388Glu) c.41562T>G (p.Asp13854Glu) c.41559T>G (p.Asp13853Glu) c.38601T>G (p.Asp12867Glu) c.20217T>G (p.Asp6739Glu) c.41712T>G (p.Asp13904Glu) c.41709T>G (p.Asp13903Glu) c.41142T>G (p.Asp13714Glu) c.38484T>G (p.Asp12828Glu) c.38403T>G (p.Asp12801Glu) c.20166T>G (p.Asp6722Glu) c.10020T>G (p.Asp3340Glu) | |
2 | g.178618080A>G | CA283298 | TTN,TTN-AS1 | c.39567T>C (p.Asp13189=) c.20652T>C (p.Asp6884=) c.20451T>C (p.Asp6817=) c.20076T>C (p.Asp6692=) c.47271T>C (p.Asp15757=) c.42348T>C (p.Asp14116=) n.1605-1673A>G c.46368T>C (p.Asp15456=) c.20262T>C (p.Asp6754=) c.20121T>C (p.Asp6707=) c.46164T>C (p.Asp15388=) c.41562T>C (p.Asp13854=) c.41559T>C (p.Asp13853=) c.38601T>C (p.Asp12867=) c.20217T>C (p.Asp6739=) c.41712T>C (p.Asp13904=) c.41709T>C (p.Asp13903=) c.41142T>C (p.Asp13714=) c.38484T>C (p.Asp12828=) c.38403T>C (p.Asp12801=) c.20166T>C (p.Asp6722=) c.10020T>C (p.Asp3340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618080A>T | CA349618413 | TTN,TTN-AS1 | c.39567T>A (p.Asp13189Glu) c.20652T>A (p.Asp6884Glu) c.20451T>A (p.Asp6817Glu) c.20076T>A (p.Asp6692Glu) c.47271T>A (p.Asp15757Glu) c.42348T>A (p.Asp14116Glu) n.1605-1673A>T c.46368T>A (p.Asp15456Glu) c.20262T>A (p.Asp6754Glu) c.20121T>A (p.Asp6707Glu) c.46164T>A (p.Asp15388Glu) c.41562T>A (p.Asp13854Glu) c.41559T>A (p.Asp13853Glu) c.38601T>A (p.Asp12867Glu) c.20217T>A (p.Asp6739Glu) c.41712T>A (p.Asp13904Glu) c.41709T>A (p.Asp13903Glu) c.41142T>A (p.Asp13714Glu) c.38484T>A (p.Asp12828Glu) c.38403T>A (p.Asp12801Glu) c.20166T>A (p.Asp6722Glu) c.10020T>A (p.Asp3340Glu) | |
2 | g.178618081T>A | CA349618420 | TTN,TTN-AS1 | c.39566A>T (p.Asp13189Val) c.20651A>T (p.Asp6884Val) c.20450A>T (p.Asp6817Val) c.20075A>T (p.Asp6692Val) c.47270A>T (p.Asp15757Val) c.42347A>T (p.Asp14116Val) n.1605-1672T>A c.46367A>T (p.Asp15456Val) c.20261A>T (p.Asp6754Val) c.20120A>T (p.Asp6707Val) c.46163A>T (p.Asp15388Val) c.41561A>T (p.Asp13854Val) c.41558A>T (p.Asp13853Val) c.38600A>T (p.Asp12867Val) c.20216A>T (p.Asp6739Val) c.41711A>T (p.Asp13904Val) c.41708A>T (p.Asp13903Val) c.41141A>T (p.Asp13714Val) c.38483A>T (p.Asp12828Val) c.38402A>T (p.Asp12801Val) c.20165A>T (p.Asp6722Val) c.10019A>T (p.Asp3340Val) | |
2 | g.178618081T>C | CA349618423 | TTN,TTN-AS1 | c.39566A>G (p.Asp13189Gly) c.20651A>G (p.Asp6884Gly) c.20450A>G (p.Asp6817Gly) c.20075A>G (p.Asp6692Gly) c.47270A>G (p.Asp15757Gly) c.42347A>G (p.Asp14116Gly) n.1605-1672T>C c.46367A>G (p.Asp15456Gly) c.20261A>G (p.Asp6754Gly) c.20120A>G (p.Asp6707Gly) c.46163A>G (p.Asp15388Gly) c.41561A>G (p.Asp13854Gly) c.41558A>G (p.Asp13853Gly) c.38600A>G (p.Asp12867Gly) c.20216A>G (p.Asp6739Gly) c.41711A>G (p.Asp13904Gly) c.41708A>G (p.Asp13903Gly) c.41141A>G (p.Asp13714Gly) c.38483A>G (p.Asp12828Gly) c.38402A>G (p.Asp12801Gly) c.20165A>G (p.Asp6722Gly) c.10019A>G (p.Asp3340Gly) | gnomAD v4 |
2 | g.178618081T>G | CA349618430 | TTN,TTN-AS1 | c.39566A>C (p.Asp13189Ala) c.20651A>C (p.Asp6884Ala) c.20450A>C (p.Asp6817Ala) c.20075A>C (p.Asp6692Ala) c.47270A>C (p.Asp15757Ala) c.42347A>C (p.Asp14116Ala) n.1605-1672T>G c.46367A>C (p.Asp15456Ala) c.20261A>C (p.Asp6754Ala) c.20120A>C (p.Asp6707Ala) c.46163A>C (p.Asp15388Ala) c.41561A>C (p.Asp13854Ala) c.41558A>C (p.Asp13853Ala) c.38600A>C (p.Asp12867Ala) c.20216A>C (p.Asp6739Ala) c.41711A>C (p.Asp13904Ala) c.41708A>C (p.Asp13903Ala) c.41141A>C (p.Asp13714Ala) c.38483A>C (p.Asp12828Ala) c.38402A>C (p.Asp12801Ala) c.20165A>C (p.Asp6722Ala) c.10019A>C (p.Asp3340Ala) | |
2 | g.178618082C>A | CA349618442 | TTN,TTN-AS1 | c.39566-1G>T (n.39566-1G>T) c.20651-1G>T (n.20651-1G>T) c.20450-1G>T (n.20450-1G>T) c.20075-1G>T (n.20075-1G>T) c.47270-1G>T (n.47270-1G>T) c.42347-1G>T (n.42347-1G>T) n.1605-1671C>A c.46367-1G>T (n.46367-1G>T) c.20261-1G>T (n.20261-1G>T) c.20120-1G>T (n.20120-1G>T) c.46163-1G>T (n.46163-1G>T) c.41561-1G>T (n.41561-1G>T) c.41558-1G>T (n.41558-1G>T) c.38600-1G>T (n.38600-1G>T) c.20216-1G>T (n.20216-1G>T) c.41711-1G>T (n.41711-1G>T) c.41708-1G>T (n.41708-1G>T) c.41141-1G>T (n.41141-1G>T) c.38483-1G>T (n.38483-1G>T) c.38402-1G>T (n.38402-1G>T) c.20165-1G>T (n.20165-1G>T) c.10019-1G>T (n.10019-1G>T) | |
2 | g.178618082C>G | CA349618466 | TTN,TTN-AS1 | c.39566-1G>C (n.39566-1G>C) c.20651-1G>C (n.20651-1G>C) c.20450-1G>C (n.20450-1G>C) c.20075-1G>C (n.20075-1G>C) c.47270-1G>C (n.47270-1G>C) c.42347-1G>C (n.42347-1G>C) n.1605-1671C>G c.46367-1G>C (n.46367-1G>C) c.20261-1G>C (n.20261-1G>C) c.20120-1G>C (n.20120-1G>C) c.46163-1G>C (n.46163-1G>C) c.41561-1G>C (n.41561-1G>C) c.41558-1G>C (n.41558-1G>C) c.38600-1G>C (n.38600-1G>C) c.20216-1G>C (n.20216-1G>C) c.41711-1G>C (n.41711-1G>C) c.41708-1G>C (n.41708-1G>C) c.41141-1G>C (n.41141-1G>C) c.38483-1G>C (n.38483-1G>C) c.38402-1G>C (n.38402-1G>C) c.20165-1G>C (n.20165-1G>C) c.10019-1G>C (n.10019-1G>C) | |
2 | g.178618082C>T | CA349618468 | TTN,TTN-AS1 | c.39566-1G>A (n.39566-1G>A) c.20651-1G>A (n.20651-1G>A) c.20450-1G>A (n.20450-1G>A) c.20075-1G>A (n.20075-1G>A) c.47270-1G>A (n.47270-1G>A) c.42347-1G>A (n.42347-1G>A) n.1605-1671C>T c.46367-1G>A (n.46367-1G>A) c.20261-1G>A (n.20261-1G>A) c.20120-1G>A (n.20120-1G>A) c.46163-1G>A (n.46163-1G>A) c.41561-1G>A (n.41561-1G>A) c.41558-1G>A (n.41558-1G>A) c.38600-1G>A (n.38600-1G>A) c.20216-1G>A (n.20216-1G>A) c.41711-1G>A (n.41711-1G>A) c.41708-1G>A (n.41708-1G>A) c.41141-1G>A (n.41141-1G>A) c.38483-1G>A (n.38483-1G>A) c.38402-1G>A (n.38402-1G>A) c.20165-1G>A (n.20165-1G>A) c.10019-1G>A (n.10019-1G>A) | |
2 | g.178618083T>A | CA349618474 | TTN,TTN-AS1 | c.39566-2A>T (n.39566-2A>T) c.20651-2A>T (n.20651-2A>T) c.20450-2A>T (n.20450-2A>T) c.20075-2A>T (n.20075-2A>T) c.47270-2A>T (n.47270-2A>T) c.42347-2A>T (n.42347-2A>T) n.1605-1670T>A c.46367-2A>T (n.46367-2A>T) c.20261-2A>T (n.20261-2A>T) c.20120-2A>T (n.20120-2A>T) c.46163-2A>T (n.46163-2A>T) c.41561-2A>T (n.41561-2A>T) c.41558-2A>T (n.41558-2A>T) c.38600-2A>T (n.38600-2A>T) c.20216-2A>T (n.20216-2A>T) c.41711-2A>T (n.41711-2A>T) c.41708-2A>T (n.41708-2A>T) c.41141-2A>T (n.41141-2A>T) c.38483-2A>T (n.38483-2A>T) c.38402-2A>T (n.38402-2A>T) c.20165-2A>T (n.20165-2A>T) c.10019-2A>T (n.10019-2A>T) | |
2 | g.178618083T>C | CA349618477 | TTN,TTN-AS1 | c.39566-2A>G (n.39566-2A>G) c.20651-2A>G (n.20651-2A>G) c.20450-2A>G (n.20450-2A>G) c.20075-2A>G (n.20075-2A>G) c.47270-2A>G (n.47270-2A>G) c.42347-2A>G (n.42347-2A>G) n.1605-1670T>C c.46367-2A>G (n.46367-2A>G) c.20261-2A>G (n.20261-2A>G) c.20120-2A>G (n.20120-2A>G) c.46163-2A>G (n.46163-2A>G) c.41561-2A>G (n.41561-2A>G) c.41558-2A>G (n.41558-2A>G) c.38600-2A>G (n.38600-2A>G) c.20216-2A>G (n.20216-2A>G) c.41711-2A>G (n.41711-2A>G) c.41708-2A>G (n.41708-2A>G) c.41141-2A>G (n.41141-2A>G) c.38483-2A>G (n.38483-2A>G) c.38402-2A>G (n.38402-2A>G) c.20165-2A>G (n.20165-2A>G) c.10019-2A>G (n.10019-2A>G) | |
2 | g.178618083T>G | CA349618471 | TTN,TTN-AS1 | c.39566-2A>C (n.39566-2A>C) c.20651-2A>C (n.20651-2A>C) c.20450-2A>C (n.20450-2A>C) c.20075-2A>C (n.20075-2A>C) c.47270-2A>C (n.47270-2A>C) c.42347-2A>C (n.42347-2A>C) n.1605-1670T>G c.46367-2A>C (n.46367-2A>C) c.20261-2A>C (n.20261-2A>C) c.20120-2A>C (n.20120-2A>C) c.46163-2A>C (n.46163-2A>C) c.41561-2A>C (n.41561-2A>C) c.41558-2A>C (n.41558-2A>C) c.38600-2A>C (n.38600-2A>C) c.20216-2A>C (n.20216-2A>C) c.41711-2A>C (n.41711-2A>C) c.41708-2A>C (n.41708-2A>C) c.41141-2A>C (n.41141-2A>C) c.38483-2A>C (n.38483-2A>C) c.38402-2A>C (n.38402-2A>C) c.20165-2A>C (n.20165-2A>C) c.10019-2A>C (n.10019-2A>C) | |
2 | g.178618083_178618086delinsTGGA | CA1310550906 | TTN,TTN-AS1 | c.39566-5_39566-2delinsTCCA (n.39566-5_39566-2delinsTCCA) c.20651-5_20651-2delinsTCCA (n.20651-5_20651-2delinsTCCA) c.20450-5_20450-2delinsTCCA (n.20450-5_20450-2delinsTCCA) c.20075-5_20075-2delinsTCCA (n.20075-5_20075-2delinsTCCA) c.47270-5_47270-2delinsTCCA (n.47270-5_47270-2delinsTCCA) c.42347-5_42347-2delinsTCCA (n.42347-5_42347-2delinsTCCA) n.1605-1670_1605-1667delinsTGGA c.46367-5_46367-2delinsTCCA (n.46367-5_46367-2delinsTCCA) c.20261-5_20261-2delinsTCCA (n.20261-5_20261-2delinsTCCA) c.20120-5_20120-2delinsTCCA (n.20120-5_20120-2delinsTCCA) c.46163-5_46163-2delinsTCCA (n.46163-5_46163-2delinsTCCA) c.41561-5_41561-2delinsTCCA (n.41561-5_41561-2delinsTCCA) c.41558-5_41558-2delinsTCCA (n.41558-5_41558-2delinsTCCA) c.38600-5_38600-2delinsTCCA (n.38600-5_38600-2delinsTCCA) c.20216-5_20216-2delinsTCCA (n.20216-5_20216-2delinsTCCA) c.41711-5_41711-2delinsTCCA (n.41711-5_41711-2delinsTCCA) c.41708-5_41708-2delinsTCCA (n.41708-5_41708-2delinsTCCA) c.41141-5_41141-2delinsTCCA (n.41141-5_41141-2delinsTCCA) c.38483-5_38483-2delinsTCCA (n.38483-5_38483-2delinsTCCA) c.38402-5_38402-2delinsTCCA (n.38402-5_38402-2delinsTCCA) c.20165-5_20165-2delinsTCCA (n.20165-5_20165-2delinsTCCA) c.10019-5_10019-2delinsTCCA (n.10019-5_10019-2delinsTCCA) | |
2 | g.178618084G>A | CA1995076 | TTN,TTN-AS1 | c.39566-3C>T (n.39566-3C>T) c.20651-3C>T (n.20651-3C>T) c.20450-3C>T (n.20450-3C>T) c.20075-3C>T (n.20075-3C>T) c.47270-3C>T (n.47270-3C>T) c.42347-3C>T (n.42347-3C>T) n.1605-1669G>A c.46367-3C>T (n.46367-3C>T) c.20261-3C>T (n.20261-3C>T) c.20120-3C>T (n.20120-3C>T) c.46163-3C>T (n.46163-3C>T) c.41561-3C>T (n.41561-3C>T) c.41558-3C>T (n.41558-3C>T) c.38600-3C>T (n.38600-3C>T) c.20216-3C>T (n.20216-3C>T) c.41711-3C>T (n.41711-3C>T) c.41708-3C>T (n.41708-3C>T) c.41141-3C>T (n.41141-3C>T) c.38483-3C>T (n.38483-3C>T) c.38402-3C>T (n.38402-3C>T) c.20165-3C>T (n.20165-3C>T) c.10019-3C>T (n.10019-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618084G= | CA1310550907 | TTN,TTN-AS1 | c.39566-3C= (n.39566-3C=) c.20651-3C= (n.20651-3C=) c.20450-3C= (n.20450-3C=) c.20075-3C= (n.20075-3C=) c.47270-3C= (n.47270-3C=) c.42347-3C= (n.42347-3C=) n.1605-1669G= c.46367-3C= (n.46367-3C=) c.20261-3C= (n.20261-3C=) c.20120-3C= (n.20120-3C=) c.46163-3C= (n.46163-3C=) c.41561-3C= (n.41561-3C=) c.41558-3C= (n.41558-3C=) c.38600-3C= (n.38600-3C=) c.20216-3C= (n.20216-3C=) c.41711-3C= (n.41711-3C=) c.41708-3C= (n.41708-3C=) c.41141-3C= (n.41141-3C=) c.38483-3C= (n.38483-3C=) c.38402-3C= (n.38402-3C=) c.20165-3C= (n.20165-3C=) c.10019-3C= (n.10019-3C=) | |
2 | g.178618084_178618086del | CA1995075 | TTN,TTN-AS1 | c.39566-5_39566-3del (n.39566-5_39566-3del) c.20651-5_20651-3del (n.20651-5_20651-3del) c.20450-5_20450-3del (n.20450-5_20450-3del) c.20075-5_20075-3del (n.20075-5_20075-3del) c.47270-5_47270-3del (n.47270-5_47270-3del) c.42347-5_42347-3del (n.42347-5_42347-3del) n.1605-1669_1605-1667del c.46367-5_46367-3del (n.46367-5_46367-3del) c.20261-5_20261-3del (n.20261-5_20261-3del) c.20120-5_20120-3del (n.20120-5_20120-3del) c.46163-5_46163-3del (n.46163-5_46163-3del) c.41561-5_41561-3del (n.41561-5_41561-3del) c.41558-5_41558-3del (n.41558-5_41558-3del) c.38600-5_38600-3del (n.38600-5_38600-3del) c.20216-5_20216-3del (n.20216-5_20216-3del) c.41711-5_41711-3del (n.41711-5_41711-3del) c.41708-5_41708-3del (n.41708-5_41708-3del) c.41141-5_41141-3del (n.41141-5_41141-3del) c.38483-5_38483-3del (n.38483-5_38483-3del) c.38402-5_38402-3del (n.38402-5_38402-3del) c.20165-5_20165-3del (n.20165-5_20165-3del) c.10019-5_10019-3del (n.10019-5_10019-3del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618087T>C | CA2662134643 | TTN,TTN-AS1 | c.39566-6A>G (n.39566-6A>G) c.20651-6A>G (n.20651-6A>G) c.20450-6A>G (n.20450-6A>G) c.20075-6A>G (n.20075-6A>G) c.47270-6A>G (n.47270-6A>G) c.42347-6A>G (n.42347-6A>G) n.1605-1666T>C c.46367-6A>G (n.46367-6A>G) c.20261-6A>G (n.20261-6A>G) c.20120-6A>G (n.20120-6A>G) c.46163-6A>G (n.46163-6A>G) c.41561-6A>G (n.41561-6A>G) c.41558-6A>G (n.41558-6A>G) c.38600-6A>G (n.38600-6A>G) c.20216-6A>G (n.20216-6A>G) c.41711-6A>G (n.41711-6A>G) c.41708-6A>G (n.41708-6A>G) c.41141-6A>G (n.41141-6A>G) c.38483-6A>G (n.38483-6A>G) c.38402-6A>G (n.38402-6A>G) c.20165-6A>G (n.20165-6A>G) c.10019-6A>G (n.10019-6A>G) | gnomAD v4 |
2 | g.178618087T>G | CA2577171291 | TTN,TTN-AS1 | c.39566-6A>C (n.39566-6A>C) c.20651-6A>C (n.20651-6A>C) c.20450-6A>C (n.20450-6A>C) c.20075-6A>C (n.20075-6A>C) c.47270-6A>C (n.47270-6A>C) c.42347-6A>C (n.42347-6A>C) n.1605-1666T>G c.46367-6A>C (n.46367-6A>C) c.20261-6A>C (n.20261-6A>C) c.20120-6A>C (n.20120-6A>C) c.46163-6A>C (n.46163-6A>C) c.41561-6A>C (n.41561-6A>C) c.41558-6A>C (n.41558-6A>C) c.38600-6A>C (n.38600-6A>C) c.20216-6A>C (n.20216-6A>C) c.41711-6A>C (n.41711-6A>C) c.41708-6A>C (n.41708-6A>C) c.41141-6A>C (n.41141-6A>C) c.38483-6A>C (n.38483-6A>C) c.38402-6A>C (n.38402-6A>C) c.20165-6A>C (n.20165-6A>C) c.10019-6A>C (n.10019-6A>C) | |
2 | g.178618087_178618120delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG | CA1310550908 | TTN,TTN-AS1 | c.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) n.1605-1666_1605-1633delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG c.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) c.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA) | |
2 | g.178618089_178618121del | CA1995077 | TTN,TTN-AS1 | c.39566-39_39566-7del (n.39566-39_39566-7del) c.20651-39_20651-7del (n.20651-39_20651-7del) c.20450-39_20450-7del (n.20450-39_20450-7del) c.20075-39_20075-7del (n.20075-39_20075-7del) c.47270-39_47270-7del (n.47270-39_47270-7del) c.42347-39_42347-7del (n.42347-39_42347-7del) n.1605-1664_1605-1632del c.46367-39_46367-7del (n.46367-39_46367-7del) c.20261-39_20261-7del (n.20261-39_20261-7del) c.20120-39_20120-7del (n.20120-39_20120-7del) c.46163-39_46163-7del (n.46163-39_46163-7del) c.41561-39_41561-7del (n.41561-39_41561-7del) c.41558-39_41558-7del (n.41558-39_41558-7del) c.38600-39_38600-7del (n.38600-39_38600-7del) c.20216-39_20216-7del (n.20216-39_20216-7del) c.41711-39_41711-7del (n.41711-39_41711-7del) c.41708-39_41708-7del (n.41708-39_41708-7del) c.41141-39_41141-7del (n.41141-39_41141-7del) c.38483-39_38483-7del (n.38483-39_38483-7del) c.38402-39_38402-7del (n.38402-39_38402-7del) c.20165-39_20165-7del (n.20165-39_20165-7del) c.10019-39_10019-7del (n.10019-39_10019-7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618091_178618092delinsAC | CA1310550909 | TTN,TTN-AS1 | c.39566-11_39566-10delinsGT (n.39566-11_39566-10delinsGT) c.20651-11_20651-10delinsGT (n.20651-11_20651-10delinsGT) c.20450-11_20450-10delinsGT (n.20450-11_20450-10delinsGT) c.20075-11_20075-10delinsGT (n.20075-11_20075-10delinsGT) c.47270-11_47270-10delinsGT (n.47270-11_47270-10delinsGT) c.42347-11_42347-10delinsGT (n.42347-11_42347-10delinsGT) n.1605-1662_1605-1661delinsAC c.46367-11_46367-10delinsGT (n.46367-11_46367-10delinsGT) c.20261-11_20261-10delinsGT (n.20261-11_20261-10delinsGT) c.20120-11_20120-10delinsGT (n.20120-11_20120-10delinsGT) c.46163-11_46163-10delinsGT (n.46163-11_46163-10delinsGT) c.41561-11_41561-10delinsGT (n.41561-11_41561-10delinsGT) c.41558-11_41558-10delinsGT (n.41558-11_41558-10delinsGT) c.38600-11_38600-10delinsGT (n.38600-11_38600-10delinsGT) c.20216-11_20216-10delinsGT (n.20216-11_20216-10delinsGT) c.41711-11_41711-10delinsGT (n.41711-11_41711-10delinsGT) c.41708-11_41708-10delinsGT (n.41708-11_41708-10delinsGT) c.41141-11_41141-10delinsGT (n.41141-11_41141-10delinsGT) c.38483-11_38483-10delinsGT (n.38483-11_38483-10delinsGT) c.38402-11_38402-10delinsGT (n.38402-11_38402-10delinsGT) c.20165-11_20165-10delinsGT (n.20165-11_20165-10delinsGT) c.10019-11_10019-10delinsGT (n.10019-11_10019-10delinsGT) | |
2 | g.178618093del | CA60990567 | TTN,TTN-AS1 | c.39566-11del (n.39566-11del) c.20651-11del (n.20651-11del) c.20450-11del (n.20450-11del) c.20075-11del (n.20075-11del) c.47270-11del (n.47270-11del) c.42347-11del (n.42347-11del) n.1605-1660del c.46367-11del (n.46367-11del) c.20261-11del (n.20261-11del) c.20120-11del (n.20120-11del) c.46163-11del (n.46163-11del) c.41561-11del (n.41561-11del) c.41558-11del (n.41558-11del) c.38600-11del (n.38600-11del) c.20216-11del (n.20216-11del) c.41711-11del (n.41711-11del) c.41708-11del (n.41708-11del) c.41141-11del (n.41141-11del) c.38483-11del (n.38483-11del) c.38402-11del (n.38402-11del) c.20165-11del (n.20165-11del) c.10019-11del (n.10019-11del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618095C>T | CA2740096126 | TTN,TTN-AS1 | c.39566-14G>A (n.39566-14G>A) c.20651-14G>A (n.20651-14G>A) c.20450-14G>A (n.20450-14G>A) c.20075-14G>A (n.20075-14G>A) c.47270-14G>A (n.47270-14G>A) c.42347-14G>A (n.42347-14G>A) n.1605-1658C>T c.46367-14G>A (n.46367-14G>A) c.20261-14G>A (n.20261-14G>A) c.20120-14G>A (n.20120-14G>A) c.46163-14G>A (n.46163-14G>A) c.41561-14G>A (n.41561-14G>A) c.41558-14G>A (n.41558-14G>A) c.38600-14G>A (n.38600-14G>A) c.20216-14G>A (n.20216-14G>A) c.41711-14G>A (n.41711-14G>A) c.41708-14G>A (n.41708-14G>A) c.41141-14G>A (n.41141-14G>A) c.38483-14G>A (n.38483-14G>A) c.38402-14G>A (n.38402-14G>A) c.20165-14G>A (n.20165-14G>A) c.10019-14G>A (n.10019-14G>A) | ClinVar |
2 | g.178618095_178618098delinsCAGA | CA1310550910 | TTN,TTN-AS1 | c.39566-17_39566-14delinsTCTG (n.39566-17_39566-14delinsTCTG) c.20651-17_20651-14delinsTCTG (n.20651-17_20651-14delinsTCTG) c.20450-17_20450-14delinsTCTG (n.20450-17_20450-14delinsTCTG) c.20075-17_20075-14delinsTCTG (n.20075-17_20075-14delinsTCTG) c.47270-17_47270-14delinsTCTG (n.47270-17_47270-14delinsTCTG) c.42347-17_42347-14delinsTCTG (n.42347-17_42347-14delinsTCTG) n.1605-1658_1605-1655delinsCAGA c.46367-17_46367-14delinsTCTG (n.46367-17_46367-14delinsTCTG) c.20261-17_20261-14delinsTCTG (n.20261-17_20261-14delinsTCTG) c.20120-17_20120-14delinsTCTG (n.20120-17_20120-14delinsTCTG) c.46163-17_46163-14delinsTCTG (n.46163-17_46163-14delinsTCTG) c.41561-17_41561-14delinsTCTG (n.41561-17_41561-14delinsTCTG) c.41558-17_41558-14delinsTCTG (n.41558-17_41558-14delinsTCTG) c.38600-17_38600-14delinsTCTG (n.38600-17_38600-14delinsTCTG) c.20216-17_20216-14delinsTCTG (n.20216-17_20216-14delinsTCTG) c.41711-17_41711-14delinsTCTG (n.41711-17_41711-14delinsTCTG) c.41708-17_41708-14delinsTCTG (n.41708-17_41708-14delinsTCTG) c.41141-17_41141-14delinsTCTG (n.41141-17_41141-14delinsTCTG) c.38483-17_38483-14delinsTCTG (n.38483-17_38483-14delinsTCTG) c.38402-17_38402-14delinsTCTG (n.38402-17_38402-14delinsTCTG) c.20165-17_20165-14delinsTCTG (n.20165-17_20165-14delinsTCTG) c.10019-17_10019-14delinsTCTG (n.10019-17_10019-14delinsTCTG) | |
2 | g.178618103_178618105del | CA538435872 | TTN,TTN-AS1 | c.39566-17_39566-15del (n.39566-17_39566-15del) c.20651-17_20651-15del (n.20651-17_20651-15del) c.20450-17_20450-15del (n.20450-17_20450-15del) c.20075-17_20075-15del (n.20075-17_20075-15del) c.47270-17_47270-15del (n.47270-17_47270-15del) c.42347-17_42347-15del (n.42347-17_42347-15del) n.1605-1650_1605-1648del c.46367-17_46367-15del (n.46367-17_46367-15del) c.20261-17_20261-15del (n.20261-17_20261-15del) c.20120-17_20120-15del (n.20120-17_20120-15del) c.46163-17_46163-15del (n.46163-17_46163-15del) c.41561-17_41561-15del (n.41561-17_41561-15del) c.41558-17_41558-15del (n.41558-17_41558-15del) c.38600-17_38600-15del (n.38600-17_38600-15del) c.20216-17_20216-15del (n.20216-17_20216-15del) c.41711-17_41711-15del (n.41711-17_41711-15del) c.41708-17_41708-15del (n.41708-17_41708-15del) c.41141-17_41141-15del (n.41141-17_41141-15del) c.38483-17_38483-15del (n.38483-17_38483-15del) c.38402-17_38402-15del (n.38402-17_38402-15del) c.20165-17_20165-15del (n.20165-17_20165-15del) c.10019-17_10019-15del (n.10019-17_10019-15del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178618098A>G | CA2662134649 | TTN,TTN-AS1 | c.39566-17T>C (n.39566-17T>C) c.20651-17T>C (n.20651-17T>C) c.20450-17T>C (n.20450-17T>C) c.20075-17T>C (n.20075-17T>C) c.47270-17T>C (n.47270-17T>C) c.42347-17T>C (n.42347-17T>C) n.1605-1655A>G c.46367-17T>C (n.46367-17T>C) c.20261-17T>C (n.20261-17T>C) c.20120-17T>C (n.20120-17T>C) c.46163-17T>C (n.46163-17T>C) c.41561-17T>C (n.41561-17T>C) c.41558-17T>C (n.41558-17T>C) c.38600-17T>C (n.38600-17T>C) c.20216-17T>C (n.20216-17T>C) c.41711-17T>C (n.41711-17T>C) c.41708-17T>C (n.41708-17T>C) c.41141-17T>C (n.41141-17T>C) c.38483-17T>C (n.38483-17T>C) c.38402-17T>C (n.38402-17T>C) c.20165-17T>C (n.20165-17T>C) c.10019-17T>C (n.10019-17T>C) | gnomAD v4 |
2 | g.178618099A>C | CA2662134651 | TTN,TTN-AS1 | c.39566-18T>G (n.39566-18T>G) c.20651-18T>G (n.20651-18T>G) c.20450-18T>G (n.20450-18T>G) c.20075-18T>G (n.20075-18T>G) c.47270-18T>G (n.47270-18T>G) c.42347-18T>G (n.42347-18T>G) n.1605-1654A>C c.46367-18T>G (n.46367-18T>G) c.20261-18T>G (n.20261-18T>G) c.20120-18T>G (n.20120-18T>G) c.46163-18T>G (n.46163-18T>G) c.41561-18T>G (n.41561-18T>G) c.41558-18T>G (n.41558-18T>G) c.38600-18T>G (n.38600-18T>G) c.20216-18T>G (n.20216-18T>G) c.41711-18T>G (n.41711-18T>G) c.41708-18T>G (n.41708-18T>G) c.41141-18T>G (n.41141-18T>G) c.38483-18T>G (n.38483-18T>G) c.38402-18T>G (n.38402-18T>G) c.20165-18T>G (n.20165-18T>G) c.10019-18T>G (n.10019-18T>G) | gnomAD v4 |
2 | g.178618100del | CA2662134653 | TTN,TTN-AS1 | c.39566-19del (n.39566-19del) c.20651-19del (n.20651-19del) c.20450-19del (n.20450-19del) c.20075-19del (n.20075-19del) c.47270-19del (n.47270-19del) c.42347-19del (n.42347-19del) n.1605-1653del c.46367-19del (n.46367-19del) c.20261-19del (n.20261-19del) c.20120-19del (n.20120-19del) c.46163-19del (n.46163-19del) c.41561-19del (n.41561-19del) c.41558-19del (n.41558-19del) c.38600-19del (n.38600-19del) c.20216-19del (n.20216-19del) c.41711-19del (n.41711-19del) c.41708-19del (n.41708-19del) c.41141-19del (n.41141-19del) c.38483-19del (n.38483-19del) c.38402-19del (n.38402-19del) c.20165-19del (n.20165-19del) c.10019-19del (n.10019-19del) | gnomAD v4 |
2 | g.178618100G>A | CA2662134655 | TTN,TTN-AS1 | c.39566-19C>T (n.39566-19C>T) c.20651-19C>T (n.20651-19C>T) c.20450-19C>T (n.20450-19C>T) c.20075-19C>T (n.20075-19C>T) c.47270-19C>T (n.47270-19C>T) c.42347-19C>T (n.42347-19C>T) n.1605-1653G>A c.46367-19C>T (n.46367-19C>T) c.20261-19C>T (n.20261-19C>T) c.20120-19C>T (n.20120-19C>T) c.46163-19C>T (n.46163-19C>T) c.41561-19C>T (n.41561-19C>T) c.41558-19C>T (n.41558-19C>T) c.38600-19C>T (n.38600-19C>T) c.20216-19C>T (n.20216-19C>T) c.41711-19C>T (n.41711-19C>T) c.41708-19C>T (n.41708-19C>T) c.41141-19C>T (n.41141-19C>T) c.38483-19C>T (n.38483-19C>T) c.38402-19C>T (n.38402-19C>T) c.20165-19C>T (n.20165-19C>T) c.10019-19C>T (n.10019-19C>T) | gnomAD v4 |
2 | g.178618104A>C | CA2662134658 | TTN,TTN-AS1 | c.39566-23T>G (n.39566-23T>G) c.20651-23T>G (n.20651-23T>G) c.20450-23T>G (n.20450-23T>G) c.20075-23T>G (n.20075-23T>G) c.47270-23T>G (n.47270-23T>G) c.42347-23T>G (n.42347-23T>G) n.1605-1649A>C c.46367-23T>G (n.46367-23T>G) c.20261-23T>G (n.20261-23T>G) c.20120-23T>G (n.20120-23T>G) c.46163-23T>G (n.46163-23T>G) c.41561-23T>G (n.41561-23T>G) c.41558-23T>G (n.41558-23T>G) c.38600-23T>G (n.38600-23T>G) c.20216-23T>G (n.20216-23T>G) c.41711-23T>G (n.41711-23T>G) c.41708-23T>G (n.41708-23T>G) c.41141-23T>G (n.41141-23T>G) c.38483-23T>G (n.38483-23T>G) c.38402-23T>G (n.38402-23T>G) c.20165-23T>G (n.20165-23T>G) c.10019-23T>G (n.10019-23T>G) | gnomAD v4 |
2 | g.178618107A= | CA1310550911 | TTN,TTN-AS1 | c.39566-26T= (n.39566-26T=) c.20651-26T= (n.20651-26T=) c.20450-26T= (n.20450-26T=) c.20075-26T= (n.20075-26T=) c.47270-26T= (n.47270-26T=) c.42347-26T= (n.42347-26T=) n.1605-1646A= c.46367-26T= (n.46367-26T=) c.20261-26T= (n.20261-26T=) c.20120-26T= (n.20120-26T=) c.46163-26T= (n.46163-26T=) c.41561-26T= (n.41561-26T=) c.41558-26T= (n.41558-26T=) c.38600-26T= (n.38600-26T=) c.20216-26T= (n.20216-26T=) c.41711-26T= (n.41711-26T=) c.41708-26T= (n.41708-26T=) c.41141-26T= (n.41141-26T=) c.38483-26T= (n.38483-26T=) c.38402-26T= (n.38402-26T=) c.20165-26T= (n.20165-26T=) c.10019-26T= (n.10019-26T=) | |
2 | g.178618107A>G | CA1995078 | TTN,TTN-AS1 | c.39566-26T>C (n.39566-26T>C) c.20651-26T>C (n.20651-26T>C) c.20450-26T>C (n.20450-26T>C) c.20075-26T>C (n.20075-26T>C) c.47270-26T>C (n.47270-26T>C) c.42347-26T>C (n.42347-26T>C) n.1605-1646A>G c.46367-26T>C (n.46367-26T>C) c.20261-26T>C (n.20261-26T>C) c.20120-26T>C (n.20120-26T>C) c.46163-26T>C (n.46163-26T>C) c.41561-26T>C (n.41561-26T>C) c.41558-26T>C (n.41558-26T>C) c.38600-26T>C (n.38600-26T>C) c.20216-26T>C (n.20216-26T>C) c.41711-26T>C (n.41711-26T>C) c.41708-26T>C (n.41708-26T>C) c.41141-26T>C (n.41141-26T>C) c.38483-26T>C (n.38483-26T>C) c.38402-26T>C (n.38402-26T>C) c.20165-26T>C (n.20165-26T>C) c.10019-26T>C (n.10019-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618109A= | CA1310550912 | TTN,TTN-AS1 | c.39566-28T= (n.39566-28T=) c.20651-28T= (n.20651-28T=) c.20450-28T= (n.20450-28T=) c.20075-28T= (n.20075-28T=) c.47270-28T= (n.47270-28T=) c.42347-28T= (n.42347-28T=) n.1605-1644A= c.46367-28T= (n.46367-28T=) c.20261-28T= (n.20261-28T=) c.20120-28T= (n.20120-28T=) c.46163-28T= (n.46163-28T=) c.41561-28T= (n.41561-28T=) c.41558-28T= (n.41558-28T=) c.38600-28T= (n.38600-28T=) c.20216-28T= (n.20216-28T=) c.41711-28T= (n.41711-28T=) c.41708-28T= (n.41708-28T=) c.41141-28T= (n.41141-28T=) c.38483-28T= (n.38483-28T=) c.38402-28T= (n.38402-28T=) c.20165-28T= (n.20165-28T=) c.10019-28T= (n.10019-28T=) | |
2 | g.178618109A>G | CA1995079 | TTN,TTN-AS1 | c.39566-28T>C (n.39566-28T>C) c.20651-28T>C (n.20651-28T>C) c.20450-28T>C (n.20450-28T>C) c.20075-28T>C (n.20075-28T>C) c.47270-28T>C (n.47270-28T>C) c.42347-28T>C (n.42347-28T>C) n.1605-1644A>G c.46367-28T>C (n.46367-28T>C) c.20261-28T>C (n.20261-28T>C) c.20120-28T>C (n.20120-28T>C) c.46163-28T>C (n.46163-28T>C) c.41561-28T>C (n.41561-28T>C) c.41558-28T>C (n.41558-28T>C) c.38600-28T>C (n.38600-28T>C) c.20216-28T>C (n.20216-28T>C) c.41711-28T>C (n.41711-28T>C) c.41708-28T>C (n.41708-28T>C) c.41141-28T>C (n.41141-28T>C) c.38483-28T>C (n.38483-28T>C) c.38402-28T>C (n.38402-28T>C) c.20165-28T>C (n.20165-28T>C) c.10019-28T>C (n.10019-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618110T>C | CA60990575 | TTN,TTN-AS1 | c.39566-29A>G (n.39566-29A>G) c.20651-29A>G (n.20651-29A>G) c.20450-29A>G (n.20450-29A>G) c.20075-29A>G (n.20075-29A>G) c.47270-29A>G (n.47270-29A>G) c.42347-29A>G (n.42347-29A>G) n.1605-1643T>C c.46367-29A>G (n.46367-29A>G) c.20261-29A>G (n.20261-29A>G) c.20120-29A>G (n.20120-29A>G) c.46163-29A>G (n.46163-29A>G) c.41561-29A>G (n.41561-29A>G) c.41558-29A>G (n.41558-29A>G) c.38600-29A>G (n.38600-29A>G) c.20216-29A>G (n.20216-29A>G) c.41711-29A>G (n.41711-29A>G) c.41708-29A>G (n.41708-29A>G) c.41141-29A>G (n.41141-29A>G) c.38483-29A>G (n.38483-29A>G) c.38402-29A>G (n.38402-29A>G) c.20165-29A>G (n.20165-29A>G) c.10019-29A>G (n.10019-29A>G) | dbSNP gnomAD v4 |
2 | g.178618110T= | CA1310550914 | TTN,TTN-AS1 | c.39566-29A= (n.39566-29A=) c.20651-29A= (n.20651-29A=) c.20450-29A= (n.20450-29A=) c.20075-29A= (n.20075-29A=) c.47270-29A= (n.47270-29A=) c.42347-29A= (n.42347-29A=) n.1605-1643T= c.46367-29A= (n.46367-29A=) c.20261-29A= (n.20261-29A=) c.20120-29A= (n.20120-29A=) c.46163-29A= (n.46163-29A=) c.41561-29A= (n.41561-29A=) c.41558-29A= (n.41558-29A=) c.38600-29A= (n.38600-29A=) c.20216-29A= (n.20216-29A=) c.41711-29A= (n.41711-29A=) c.41708-29A= (n.41708-29A=) c.41141-29A= (n.41141-29A=) c.38483-29A= (n.38483-29A=) c.38402-29A= (n.38402-29A=) c.20165-29A= (n.20165-29A=) c.10019-29A= (n.10019-29A=) | |
2 | g.178618110_178618111delinsTG | CA1310550913 | TTN,TTN-AS1 | c.39566-30_39566-29delinsCA (n.39566-30_39566-29delinsCA) c.20651-30_20651-29delinsCA (n.20651-30_20651-29delinsCA) c.20450-30_20450-29delinsCA (n.20450-30_20450-29delinsCA) c.20075-30_20075-29delinsCA (n.20075-30_20075-29delinsCA) c.47270-30_47270-29delinsCA (n.47270-30_47270-29delinsCA) c.42347-30_42347-29delinsCA (n.42347-30_42347-29delinsCA) n.1605-1643_1605-1642delinsTG c.46367-30_46367-29delinsCA (n.46367-30_46367-29delinsCA) c.20261-30_20261-29delinsCA (n.20261-30_20261-29delinsCA) c.20120-30_20120-29delinsCA (n.20120-30_20120-29delinsCA) c.46163-30_46163-29delinsCA (n.46163-30_46163-29delinsCA) c.41561-30_41561-29delinsCA (n.41561-30_41561-29delinsCA) c.41558-30_41558-29delinsCA (n.41558-30_41558-29delinsCA) c.38600-30_38600-29delinsCA (n.38600-30_38600-29delinsCA) c.20216-30_20216-29delinsCA (n.20216-30_20216-29delinsCA) c.41711-30_41711-29delinsCA (n.41711-30_41711-29delinsCA) c.41708-30_41708-29delinsCA (n.41708-30_41708-29delinsCA) c.41141-30_41141-29delinsCA (n.41141-30_41141-29delinsCA) c.38483-30_38483-29delinsCA (n.38483-30_38483-29delinsCA) c.38402-30_38402-29delinsCA (n.38402-30_38402-29delinsCA) c.20165-30_20165-29delinsCA (n.20165-30_20165-29delinsCA) c.10019-30_10019-29delinsCA (n.10019-30_10019-29delinsCA) | |
2 | g.178618111del | CA1995080 | TTN,TTN-AS1 | c.39566-30del (n.39566-30del) c.20651-30del (n.20651-30del) c.20450-30del (n.20450-30del) c.20075-30del (n.20075-30del) c.47270-30del (n.47270-30del) c.42347-30del (n.42347-30del) n.1605-1642del c.46367-30del (n.46367-30del) c.20261-30del (n.20261-30del) c.20120-30del (n.20120-30del) c.46163-30del (n.46163-30del) c.41561-30del (n.41561-30del) c.41558-30del (n.41558-30del) c.38600-30del (n.38600-30del) c.20216-30del (n.20216-30del) c.41711-30del (n.41711-30del) c.41708-30del (n.41708-30del) c.41141-30del (n.41141-30del) c.38483-30del (n.38483-30del) c.38402-30del (n.38402-30del) c.20165-30del (n.20165-30del) c.10019-30del (n.10019-30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618112A= | CA1310550915 | TTN,TTN-AS1 | c.39566-31T= (n.39566-31T=) c.20651-31T= (n.20651-31T=) c.20450-31T= (n.20450-31T=) c.20075-31T= (n.20075-31T=) c.47270-31T= (n.47270-31T=) c.42347-31T= (n.42347-31T=) n.1605-1641A= c.46367-31T= (n.46367-31T=) c.20261-31T= (n.20261-31T=) c.20120-31T= (n.20120-31T=) c.46163-31T= (n.46163-31T=) c.41561-31T= (n.41561-31T=) c.41558-31T= (n.41558-31T=) c.38600-31T= (n.38600-31T=) c.20216-31T= (n.20216-31T=) c.41711-31T= (n.41711-31T=) c.41708-31T= (n.41708-31T=) c.41141-31T= (n.41141-31T=) c.38483-31T= (n.38483-31T=) c.38402-31T= (n.38402-31T=) c.20165-31T= (n.20165-31T=) c.10019-31T= (n.10019-31T=) | |
2 | g.178618112A>G | CA1995081 | TTN,TTN-AS1 | c.39566-31T>C (n.39566-31T>C) c.20651-31T>C (n.20651-31T>C) c.20450-31T>C (n.20450-31T>C) c.20075-31T>C (n.20075-31T>C) c.47270-31T>C (n.47270-31T>C) c.42347-31T>C (n.42347-31T>C) n.1605-1641A>G c.46367-31T>C (n.46367-31T>C) c.20261-31T>C (n.20261-31T>C) c.20120-31T>C (n.20120-31T>C) c.46163-31T>C (n.46163-31T>C) c.41561-31T>C (n.41561-31T>C) c.41558-31T>C (n.41558-31T>C) c.38600-31T>C (n.38600-31T>C) c.20216-31T>C (n.20216-31T>C) c.41711-31T>C (n.41711-31T>C) c.41708-31T>C (n.41708-31T>C) c.41141-31T>C (n.41141-31T>C) c.38483-31T>C (n.38483-31T>C) c.38402-31T>C (n.38402-31T>C) c.20165-31T>C (n.20165-31T>C) c.10019-31T>C (n.10019-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618115T>C | CA2577171292 | TTN,TTN-AS1 | c.39566-34A>G (n.39566-34A>G) c.20651-34A>G (n.20651-34A>G) c.20450-34A>G (n.20450-34A>G) c.20075-34A>G (n.20075-34A>G) c.47270-34A>G (n.47270-34A>G) c.42347-34A>G (n.42347-34A>G) n.1605-1638T>C c.46367-34A>G (n.46367-34A>G) c.20261-34A>G (n.20261-34A>G) c.20120-34A>G (n.20120-34A>G) c.46163-34A>G (n.46163-34A>G) c.41561-34A>G (n.41561-34A>G) c.41558-34A>G (n.41558-34A>G) c.38600-34A>G (n.38600-34A>G) c.20216-34A>G (n.20216-34A>G) c.41711-34A>G (n.41711-34A>G) c.41708-34A>G (n.41708-34A>G) c.41141-34A>G (n.41141-34A>G) c.38483-34A>G (n.38483-34A>G) c.38402-34A>G (n.38402-34A>G) c.20165-34A>G (n.20165-34A>G) c.10019-34A>G (n.10019-34A>G) | gnomAD v4 |
2 | g.178618116T>C | CA2662134664 | TTN,TTN-AS1 | c.39566-35A>G (n.39566-35A>G) c.20651-35A>G (n.20651-35A>G) c.20450-35A>G (n.20450-35A>G) c.20075-35A>G (n.20075-35A>G) c.47270-35A>G (n.47270-35A>G) c.42347-35A>G (n.42347-35A>G) n.1605-1637T>C c.46367-35A>G (n.46367-35A>G) c.20261-35A>G (n.20261-35A>G) c.20120-35A>G (n.20120-35A>G) c.46163-35A>G (n.46163-35A>G) c.41561-35A>G (n.41561-35A>G) c.41558-35A>G (n.41558-35A>G) c.38600-35A>G (n.38600-35A>G) c.20216-35A>G (n.20216-35A>G) c.41711-35A>G (n.41711-35A>G) c.41708-35A>G (n.41708-35A>G) c.41141-35A>G (n.41141-35A>G) c.38483-35A>G (n.38483-35A>G) c.38402-35A>G (n.38402-35A>G) c.20165-35A>G (n.20165-35A>G) c.10019-35A>G (n.10019-35A>G) | gnomAD v4 |
2 | g.178618117G>A | CA60990589 | TTN,TTN-AS1 | c.39566-36C>T (n.39566-36C>T) c.20651-36C>T (n.20651-36C>T) c.20450-36C>T (n.20450-36C>T) c.20075-36C>T (n.20075-36C>T) c.47270-36C>T (n.47270-36C>T) c.42347-36C>T (n.42347-36C>T) n.1605-1636G>A c.46367-36C>T (n.46367-36C>T) c.20261-36C>T (n.20261-36C>T) c.20120-36C>T (n.20120-36C>T) c.46163-36C>T (n.46163-36C>T) c.41561-36C>T (n.41561-36C>T) c.41558-36C>T (n.41558-36C>T) c.38600-36C>T (n.38600-36C>T) c.20216-36C>T (n.20216-36C>T) c.41711-36C>T (n.41711-36C>T) c.41708-36C>T (n.41708-36C>T) c.41141-36C>T (n.41141-36C>T) c.38483-36C>T (n.38483-36C>T) c.38402-36C>T (n.38402-36C>T) c.20165-36C>T (n.20165-36C>T) c.10019-36C>T (n.10019-36C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618117G= | CA1310550916 | TTN,TTN-AS1 | c.39566-36C= (n.39566-36C=) c.20651-36C= (n.20651-36C=) c.20450-36C= (n.20450-36C=) c.20075-36C= (n.20075-36C=) c.47270-36C= (n.47270-36C=) c.42347-36C= (n.42347-36C=) n.1605-1636G= c.46367-36C= (n.46367-36C=) c.20261-36C= (n.20261-36C=) c.20120-36C= (n.20120-36C=) c.46163-36C= (n.46163-36C=) c.41561-36C= (n.41561-36C=) c.41558-36C= (n.41558-36C=) c.38600-36C= (n.38600-36C=) c.20216-36C= (n.20216-36C=) c.41711-36C= (n.41711-36C=) c.41708-36C= (n.41708-36C=) c.41141-36C= (n.41141-36C=) c.38483-36C= (n.38483-36C=) c.38402-36C= (n.38402-36C=) c.20165-36C= (n.20165-36C=) c.10019-36C= (n.10019-36C=) | |
2 | g.178618117G>T | CA1995082 | TTN,TTN-AS1 | c.39566-36C>A (n.39566-36C>A) c.20651-36C>A (n.20651-36C>A) c.20450-36C>A (n.20450-36C>A) c.20075-36C>A (n.20075-36C>A) c.47270-36C>A (n.47270-36C>A) c.42347-36C>A (n.42347-36C>A) n.1605-1636G>T c.46367-36C>A (n.46367-36C>A) c.20261-36C>A (n.20261-36C>A) c.20120-36C>A (n.20120-36C>A) c.46163-36C>A (n.46163-36C>A) c.41561-36C>A (n.41561-36C>A) c.41558-36C>A (n.41558-36C>A) c.38600-36C>A (n.38600-36C>A) c.20216-36C>A (n.20216-36C>A) c.41711-36C>A (n.41711-36C>A) c.41708-36C>A (n.41708-36C>A) c.41141-36C>A (n.41141-36C>A) c.38483-36C>A (n.38483-36C>A) c.38402-36C>A (n.38402-36C>A) c.20165-36C>A (n.20165-36C>A) c.10019-36C>A (n.10019-36C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178618118G>A | CA2662134671 | TTN,TTN-AS1 | c.39566-37C>T (n.39566-37C>T) c.20651-37C>T (n.20651-37C>T) c.20450-37C>T (n.20450-37C>T) c.20075-37C>T (n.20075-37C>T) c.47270-37C>T (n.47270-37C>T) c.42347-37C>T (n.42347-37C>T) n.1605-1635G>A c.46367-37C>T (n.46367-37C>T) c.20261-37C>T (n.20261-37C>T) c.20120-37C>T (n.20120-37C>T) c.46163-37C>T (n.46163-37C>T) c.41561-37C>T (n.41561-37C>T) c.41558-37C>T (n.41558-37C>T) c.38600-37C>T (n.38600-37C>T) c.20216-37C>T (n.20216-37C>T) c.41711-37C>T (n.41711-37C>T) c.41708-37C>T (n.41708-37C>T) c.41141-37C>T (n.41141-37C>T) c.38483-37C>T (n.38483-37C>T) c.38402-37C>T (n.38402-37C>T) c.20165-37C>T (n.20165-37C>T) c.10019-37C>T (n.10019-37C>T) | gnomAD v4 |
2 | g.178618118G>C | CA2577171293 | TTN,TTN-AS1 | c.39566-37C>G (n.39566-37C>G) c.20651-37C>G (n.20651-37C>G) c.20450-37C>G (n.20450-37C>G) c.20075-37C>G (n.20075-37C>G) c.47270-37C>G (n.47270-37C>G) c.42347-37C>G (n.42347-37C>G) n.1605-1635G>C c.46367-37C>G (n.46367-37C>G) c.20261-37C>G (n.20261-37C>G) c.20120-37C>G (n.20120-37C>G) c.46163-37C>G (n.46163-37C>G) c.41561-37C>G (n.41561-37C>G) c.41558-37C>G (n.41558-37C>G) c.38600-37C>G (n.38600-37C>G) c.20216-37C>G (n.20216-37C>G) c.41711-37C>G (n.41711-37C>G) c.41708-37C>G (n.41708-37C>G) c.41141-37C>G (n.41141-37C>G) c.38483-37C>G (n.38483-37C>G) c.38402-37C>G (n.38402-37C>G) c.20165-37C>G (n.20165-37C>G) c.10019-37C>G (n.10019-37C>G) | |
2 | g.178618120G>A | CA1310550918 | TTN,TTN-AS1 | c.39566-39C>T (n.39566-39C>T) c.20651-39C>T (n.20651-39C>T) c.20450-39C>T (n.20450-39C>T) c.20075-39C>T (n.20075-39C>T) c.47270-39C>T (n.47270-39C>T) c.42347-39C>T (n.42347-39C>T) n.1605-1633G>A c.46367-39C>T (n.46367-39C>T) c.20261-39C>T (n.20261-39C>T) c.20120-39C>T (n.20120-39C>T) c.46163-39C>T (n.46163-39C>T) c.41561-39C>T (n.41561-39C>T) c.41558-39C>T (n.41558-39C>T) c.38600-39C>T (n.38600-39C>T) c.20216-39C>T (n.20216-39C>T) c.41711-39C>T (n.41711-39C>T) c.41708-39C>T (n.41708-39C>T) c.41141-39C>T (n.41141-39C>T) c.38483-39C>T (n.38483-39C>T) c.38402-39C>T (n.38402-39C>T) c.20165-39C>T (n.20165-39C>T) c.10019-39C>T (n.10019-39C>T) | dbSNP gnomAD v4 |
2 | g.178618120G>C | CA2662134676 | TTN,TTN-AS1 | c.39566-39C>G (n.39566-39C>G) c.20651-39C>G (n.20651-39C>G) c.20450-39C>G (n.20450-39C>G) c.20075-39C>G (n.20075-39C>G) c.47270-39C>G (n.47270-39C>G) c.42347-39C>G (n.42347-39C>G) n.1605-1633G>C c.46367-39C>G (n.46367-39C>G) c.20261-39C>G (n.20261-39C>G) c.20120-39C>G (n.20120-39C>G) c.46163-39C>G (n.46163-39C>G) c.41561-39C>G (n.41561-39C>G) c.41558-39C>G (n.41558-39C>G) c.38600-39C>G (n.38600-39C>G) c.20216-39C>G (n.20216-39C>G) c.41711-39C>G (n.41711-39C>G) c.41708-39C>G (n.41708-39C>G) c.41141-39C>G (n.41141-39C>G) c.38483-39C>G (n.38483-39C>G) c.38402-39C>G (n.38402-39C>G) c.20165-39C>G (n.20165-39C>G) c.10019-39C>G (n.10019-39C>G) | gnomAD v4 |
2 | g.178618120G= | CA1310550917 | TTN,TTN-AS1 | c.39566-39C= (n.39566-39C=) c.20651-39C= (n.20651-39C=) c.20450-39C= (n.20450-39C=) c.20075-39C= (n.20075-39C=) c.47270-39C= (n.47270-39C=) c.42347-39C= (n.42347-39C=) n.1605-1633G= c.46367-39C= (n.46367-39C=) c.20261-39C= (n.20261-39C=) c.20120-39C= (n.20120-39C=) c.46163-39C= (n.46163-39C=) c.41561-39C= (n.41561-39C=) c.41558-39C= (n.41558-39C=) c.38600-39C= (n.38600-39C=) c.20216-39C= (n.20216-39C=) c.41711-39C= (n.41711-39C=) c.41708-39C= (n.41708-39C=) c.41141-39C= (n.41141-39C=) c.38483-39C= (n.38483-39C=) c.38402-39C= (n.38402-39C=) c.20165-39C= (n.20165-39C=) c.10019-39C= (n.10019-39C=) | |
2 | g.178618124C>A | CA761292240 | TTN,TTN-AS1 | c.39566-43G>T (n.39566-43G>T) c.20651-43G>T (n.20651-43G>T) c.20450-43G>T (n.20450-43G>T) c.20075-43G>T (n.20075-43G>T) c.47270-43G>T (n.47270-43G>T) c.42347-43G>T (n.42347-43G>T) n.1605-1629C>A c.46367-43G>T (n.46367-43G>T) c.20261-43G>T (n.20261-43G>T) c.20120-43G>T (n.20120-43G>T) c.46163-43G>T (n.46163-43G>T) c.41561-43G>T (n.41561-43G>T) c.41558-43G>T (n.41558-43G>T) c.38600-43G>T (n.38600-43G>T) c.20216-43G>T (n.20216-43G>T) c.41711-43G>T (n.41711-43G>T) c.41708-43G>T (n.41708-43G>T) c.41141-43G>T (n.41141-43G>T) c.38483-43G>T (n.38483-43G>T) c.38402-43G>T (n.38402-43G>T) c.20165-43G>T (n.20165-43G>T) c.10019-43G>T (n.10019-43G>T) | dbSNP |
2 | g.178618124C= | CA1310550919 | TTN,TTN-AS1 | c.39566-43G= (n.39566-43G=) c.20651-43G= (n.20651-43G=) c.20450-43G= (n.20450-43G=) c.20075-43G= (n.20075-43G=) c.47270-43G= (n.47270-43G=) c.42347-43G= (n.42347-43G=) n.1605-1629C= c.46367-43G= (n.46367-43G=) c.20261-43G= (n.20261-43G=) c.20120-43G= (n.20120-43G=) c.46163-43G= (n.46163-43G=) c.41561-43G= (n.41561-43G=) c.41558-43G= (n.41558-43G=) c.38600-43G= (n.38600-43G=) c.20216-43G= (n.20216-43G=) c.41711-43G= (n.41711-43G=) c.41708-43G= (n.41708-43G=) c.41141-43G= (n.41141-43G=) c.38483-43G= (n.38483-43G=) c.38402-43G= (n.38402-43G=) c.20165-43G= (n.20165-43G=) c.10019-43G= (n.10019-43G=) | |
2 | g.178618124C>G | CA2753333820 | TTN,TTN-AS1 | c.39566-43G>C (n.39566-43G>C) c.20651-43G>C (n.20651-43G>C) c.20450-43G>C (n.20450-43G>C) c.20075-43G>C (n.20075-43G>C) c.47270-43G>C (n.47270-43G>C) c.42347-43G>C (n.42347-43G>C) n.1605-1629C>G c.46367-43G>C (n.46367-43G>C) c.20261-43G>C (n.20261-43G>C) c.20120-43G>C (n.20120-43G>C) c.46163-43G>C (n.46163-43G>C) c.41561-43G>C (n.41561-43G>C) c.41558-43G>C (n.41558-43G>C) c.38600-43G>C (n.38600-43G>C) c.20216-43G>C (n.20216-43G>C) c.41711-43G>C (n.41711-43G>C) c.41708-43G>C (n.41708-43G>C) c.41141-43G>C (n.41141-43G>C) c.38483-43G>C (n.38483-43G>C) c.38402-43G>C (n.38402-43G>C) c.20165-43G>C (n.20165-43G>C) c.10019-43G>C (n.10019-43G>C) | |
2 | g.178618124C>T | CA1995083 | TTN,TTN-AS1 | c.39566-43G>A (n.39566-43G>A) c.20651-43G>A (n.20651-43G>A) c.20450-43G>A (n.20450-43G>A) c.20075-43G>A (n.20075-43G>A) c.47270-43G>A (n.47270-43G>A) c.42347-43G>A (n.42347-43G>A) n.1605-1629C>T c.46367-43G>A (n.46367-43G>A) c.20261-43G>A (n.20261-43G>A) c.20120-43G>A (n.20120-43G>A) c.46163-43G>A (n.46163-43G>A) c.41561-43G>A (n.41561-43G>A) c.41558-43G>A (n.41558-43G>A) c.38600-43G>A (n.38600-43G>A) c.20216-43G>A (n.20216-43G>A) c.41711-43G>A (n.41711-43G>A) c.41708-43G>A (n.41708-43G>A) c.41141-43G>A (n.41141-43G>A) c.38483-43G>A (n.38483-43G>A) c.38402-43G>A (n.38402-43G>A) c.20165-43G>A (n.20165-43G>A) c.10019-43G>A (n.10019-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618124_178618127delinsCGAT | CA1310550920 | TTN,TTN-AS1 | c.39566-46_39566-43delinsATCG (n.39566-46_39566-43delinsATCG) c.20651-46_20651-43delinsATCG (n.20651-46_20651-43delinsATCG) c.20450-46_20450-43delinsATCG (n.20450-46_20450-43delinsATCG) c.20075-46_20075-43delinsATCG (n.20075-46_20075-43delinsATCG) c.47270-46_47270-43delinsATCG (n.47270-46_47270-43delinsATCG) c.42347-46_42347-43delinsATCG (n.42347-46_42347-43delinsATCG) n.1605-1629_1605-1626delinsCGAT c.46367-46_46367-43delinsATCG (n.46367-46_46367-43delinsATCG) c.20261-46_20261-43delinsATCG (n.20261-46_20261-43delinsATCG) c.20120-46_20120-43delinsATCG (n.20120-46_20120-43delinsATCG) c.46163-46_46163-43delinsATCG (n.46163-46_46163-43delinsATCG) c.41561-46_41561-43delinsATCG (n.41561-46_41561-43delinsATCG) c.41558-46_41558-43delinsATCG (n.41558-46_41558-43delinsATCG) c.38600-46_38600-43delinsATCG (n.38600-46_38600-43delinsATCG) c.20216-46_20216-43delinsATCG (n.20216-46_20216-43delinsATCG) c.41711-46_41711-43delinsATCG (n.41711-46_41711-43delinsATCG) c.41708-46_41708-43delinsATCG (n.41708-46_41708-43delinsATCG) c.41141-46_41141-43delinsATCG (n.41141-46_41141-43delinsATCG) c.38483-46_38483-43delinsATCG (n.38483-46_38483-43delinsATCG) c.38402-46_38402-43delinsATCG (n.38402-46_38402-43delinsATCG) c.20165-46_20165-43delinsATCG (n.20165-46_20165-43delinsATCG) c.10019-46_10019-43delinsATCG (n.10019-46_10019-43delinsATCG) | |
2 | g.178618125G>A | CA1995084 | TTN,TTN-AS1 | c.39566-44C>T (n.39566-44C>T) c.20651-44C>T (n.20651-44C>T) c.20450-44C>T (n.20450-44C>T) c.20075-44C>T (n.20075-44C>T) c.47270-44C>T (n.47270-44C>T) c.42347-44C>T (n.42347-44C>T) n.1605-1628G>A c.46367-44C>T (n.46367-44C>T) c.20261-44C>T (n.20261-44C>T) c.20120-44C>T (n.20120-44C>T) c.46163-44C>T (n.46163-44C>T) c.41561-44C>T (n.41561-44C>T) c.41558-44C>T (n.41558-44C>T) c.38600-44C>T (n.38600-44C>T) c.20216-44C>T (n.20216-44C>T) c.41711-44C>T (n.41711-44C>T) c.41708-44C>T (n.41708-44C>T) c.41141-44C>T (n.41141-44C>T) c.38483-44C>T (n.38483-44C>T) c.38402-44C>T (n.38402-44C>T) c.20165-44C>T (n.20165-44C>T) c.10019-44C>T (n.10019-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618125G= | CA1310550922 | TTN,TTN-AS1 | c.39566-44C= (n.39566-44C=) c.20651-44C= (n.20651-44C=) c.20450-44C= (n.20450-44C=) c.20075-44C= (n.20075-44C=) c.47270-44C= (n.47270-44C=) c.42347-44C= (n.42347-44C=) n.1605-1628G= c.46367-44C= (n.46367-44C=) c.20261-44C= (n.20261-44C=) c.20120-44C= (n.20120-44C=) c.46163-44C= (n.46163-44C=) c.41561-44C= (n.41561-44C=) c.41558-44C= (n.41558-44C=) c.38600-44C= (n.38600-44C=) c.20216-44C= (n.20216-44C=) c.41711-44C= (n.41711-44C=) c.41708-44C= (n.41708-44C=) c.41141-44C= (n.41141-44C=) c.38483-44C= (n.38483-44C=) c.38402-44C= (n.38402-44C=) c.20165-44C= (n.20165-44C=) c.10019-44C= (n.10019-44C=) | |
2 | g.178618130_178618132del | CA1310550921 | TTN,TTN-AS1 | c.39566-46_39566-44del (n.39566-46_39566-44del) c.20651-46_20651-44del (n.20651-46_20651-44del) c.20450-46_20450-44del (n.20450-46_20450-44del) c.20075-46_20075-44del (n.20075-46_20075-44del) c.47270-46_47270-44del (n.47270-46_47270-44del) c.42347-46_42347-44del (n.42347-46_42347-44del) n.1605-1623_1605-1621del c.46367-46_46367-44del (n.46367-46_46367-44del) c.20261-46_20261-44del (n.20261-46_20261-44del) c.20120-46_20120-44del (n.20120-46_20120-44del) c.46163-46_46163-44del (n.46163-46_46163-44del) c.41561-46_41561-44del (n.41561-46_41561-44del) c.41558-46_41558-44del (n.41558-46_41558-44del) c.38600-46_38600-44del (n.38600-46_38600-44del) c.20216-46_20216-44del (n.20216-46_20216-44del) c.41711-46_41711-44del (n.41711-46_41711-44del) c.41708-46_41708-44del (n.41708-46_41708-44del) c.41141-46_41141-44del (n.41141-46_41141-44del) c.38483-46_38483-44del (n.38483-46_38483-44del) c.38402-46_38402-44del (n.38402-46_38402-44del) c.20165-46_20165-44del (n.20165-46_20165-44del) c.10019-46_10019-44del (n.10019-46_10019-44del) | dbSNP |
2 | g.178618127T>A | CA2577171294 | TTN,TTN-AS1 | c.39566-46A>T (n.39566-46A>T) c.20651-46A>T (n.20651-46A>T) c.20450-46A>T (n.20450-46A>T) c.20075-46A>T (n.20075-46A>T) c.47270-46A>T (n.47270-46A>T) c.42347-46A>T (n.42347-46A>T) n.1605-1626T>A c.46367-46A>T (n.46367-46A>T) c.20261-46A>T (n.20261-46A>T) c.20120-46A>T (n.20120-46A>T) c.46163-46A>T (n.46163-46A>T) c.41561-46A>T (n.41561-46A>T) c.41558-46A>T (n.41558-46A>T) c.38600-46A>T (n.38600-46A>T) c.20216-46A>T (n.20216-46A>T) c.41711-46A>T (n.41711-46A>T) c.41708-46A>T (n.41708-46A>T) c.41141-46A>T (n.41141-46A>T) c.38483-46A>T (n.38483-46A>T) c.38402-46A>T (n.38402-46A>T) c.20165-46A>T (n.20165-46A>T) c.10019-46A>T (n.10019-46A>T) | |
2 | g.178618127T>C | CA1995085 | TTN,TTN-AS1 | c.39566-46A>G (n.39566-46A>G) c.20651-46A>G (n.20651-46A>G) c.20450-46A>G (n.20450-46A>G) c.20075-46A>G (n.20075-46A>G) c.47270-46A>G (n.47270-46A>G) c.42347-46A>G (n.42347-46A>G) n.1605-1626T>C c.46367-46A>G (n.46367-46A>G) c.20261-46A>G (n.20261-46A>G) c.20120-46A>G (n.20120-46A>G) c.46163-46A>G (n.46163-46A>G) c.41561-46A>G (n.41561-46A>G) c.41558-46A>G (n.41558-46A>G) c.38600-46A>G (n.38600-46A>G) c.20216-46A>G (n.20216-46A>G) c.41711-46A>G (n.41711-46A>G) c.41708-46A>G (n.41708-46A>G) c.41141-46A>G (n.41141-46A>G) c.38483-46A>G (n.38483-46A>G) c.38402-46A>G (n.38402-46A>G) c.20165-46A>G (n.20165-46A>G) c.10019-46A>G (n.10019-46A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618127T= | CA1310550923 | TTN,TTN-AS1 | c.39566-46A= (n.39566-46A=) c.20651-46A= (n.20651-46A=) c.20450-46A= (n.20450-46A=) c.20075-46A= (n.20075-46A=) c.47270-46A= (n.47270-46A=) c.42347-46A= (n.42347-46A=) n.1605-1626T= c.46367-46A= (n.46367-46A=) c.20261-46A= (n.20261-46A=) c.20120-46A= (n.20120-46A=) c.46163-46A= (n.46163-46A=) c.41561-46A= (n.41561-46A=) c.41558-46A= (n.41558-46A=) c.38600-46A= (n.38600-46A=) c.20216-46A= (n.20216-46A=) c.41711-46A= (n.41711-46A=) c.41708-46A= (n.41708-46A=) c.41141-46A= (n.41141-46A=) c.38483-46A= (n.38483-46A=) c.38402-46A= (n.38402-46A=) c.20165-46A= (n.20165-46A=) c.10019-46A= (n.10019-46A=) | |
2 | g.178618128G>A | CA1995086 | TTN,TTN-AS1 | c.39566-47C>T (n.39566-47C>T) c.20651-47C>T (n.20651-47C>T) c.20450-47C>T (n.20450-47C>T) c.20075-47C>T (n.20075-47C>T) c.47270-47C>T (n.47270-47C>T) c.42347-47C>T (n.42347-47C>T) n.1605-1625G>A c.46367-47C>T (n.46367-47C>T) c.20261-47C>T (n.20261-47C>T) c.20120-47C>T (n.20120-47C>T) c.46163-47C>T (n.46163-47C>T) c.41561-47C>T (n.41561-47C>T) c.41558-47C>T (n.41558-47C>T) c.38600-47C>T (n.38600-47C>T) c.20216-47C>T (n.20216-47C>T) c.41711-47C>T (n.41711-47C>T) c.41708-47C>T (n.41708-47C>T) c.41141-47C>T (n.41141-47C>T) c.38483-47C>T (n.38483-47C>T) c.38402-47C>T (n.38402-47C>T) c.20165-47C>T (n.20165-47C>T) c.10019-47C>T (n.10019-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618128G>C | CA538435873 | TTN,TTN-AS1 | c.39566-47C>G (n.39566-47C>G) c.20651-47C>G (n.20651-47C>G) c.20450-47C>G (n.20450-47C>G) c.20075-47C>G (n.20075-47C>G) c.47270-47C>G (n.47270-47C>G) c.42347-47C>G (n.42347-47C>G) n.1605-1625G>C c.46367-47C>G (n.46367-47C>G) c.20261-47C>G (n.20261-47C>G) c.20120-47C>G (n.20120-47C>G) c.46163-47C>G (n.46163-47C>G) c.41561-47C>G (n.41561-47C>G) c.41558-47C>G (n.41558-47C>G) c.38600-47C>G (n.38600-47C>G) c.20216-47C>G (n.20216-47C>G) c.41711-47C>G (n.41711-47C>G) c.41708-47C>G (n.41708-47C>G) c.41141-47C>G (n.41141-47C>G) c.38483-47C>G (n.38483-47C>G) c.38402-47C>G (n.38402-47C>G) c.20165-47C>G (n.20165-47C>G) c.10019-47C>G (n.10019-47C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178618128G= | CA1310550924 | TTN,TTN-AS1 | c.39566-47C= (n.39566-47C=) c.20651-47C= (n.20651-47C=) c.20450-47C= (n.20450-47C=) c.20075-47C= (n.20075-47C=) c.47270-47C= (n.47270-47C=) c.42347-47C= (n.42347-47C=) n.1605-1625G= c.46367-47C= (n.46367-47C=) c.20261-47C= (n.20261-47C=) c.20120-47C= (n.20120-47C=) c.46163-47C= (n.46163-47C=) c.41561-47C= (n.41561-47C=) c.41558-47C= (n.41558-47C=) c.38600-47C= (n.38600-47C=) c.20216-47C= (n.20216-47C=) c.41711-47C= (n.41711-47C=) c.41708-47C= (n.41708-47C=) c.41141-47C= (n.41141-47C=) c.38483-47C= (n.38483-47C=) c.38402-47C= (n.38402-47C=) c.20165-47C= (n.20165-47C=) c.10019-47C= (n.10019-47C=) | |
2 | g.178618129A= | CA1310550925 | TTN,TTN-AS1 | c.39566-48T= (n.39566-48T=) c.20651-48T= (n.20651-48T=) c.20450-48T= (n.20450-48T=) c.20075-48T= (n.20075-48T=) c.47270-48T= (n.47270-48T=) c.42347-48T= (n.42347-48T=) n.1605-1624A= c.46367-48T= (n.46367-48T=) c.20261-48T= (n.20261-48T=) c.20120-48T= (n.20120-48T=) c.46163-48T= (n.46163-48T=) c.41561-48T= (n.41561-48T=) c.41558-48T= (n.41558-48T=) c.38600-48T= (n.38600-48T=) c.20216-48T= (n.20216-48T=) c.41711-48T= (n.41711-48T=) c.41708-48T= (n.41708-48T=) c.41141-48T= (n.41141-48T=) c.38483-48T= (n.38483-48T=) c.38402-48T= (n.38402-48T=) c.20165-48T= (n.20165-48T=) c.10019-48T= (n.10019-48T=) | |
2 | g.178618129A>G | CA761292241 | TTN,TTN-AS1 | c.39566-48T>C (n.39566-48T>C) c.20651-48T>C (n.20651-48T>C) c.20450-48T>C (n.20450-48T>C) c.20075-48T>C (n.20075-48T>C) c.47270-48T>C (n.47270-48T>C) c.42347-48T>C (n.42347-48T>C) n.1605-1624A>G c.46367-48T>C (n.46367-48T>C) c.20261-48T>C (n.20261-48T>C) c.20120-48T>C (n.20120-48T>C) c.46163-48T>C (n.46163-48T>C) c.41561-48T>C (n.41561-48T>C) c.41558-48T>C (n.41558-48T>C) c.38600-48T>C (n.38600-48T>C) c.20216-48T>C (n.20216-48T>C) c.41711-48T>C (n.41711-48T>C) c.41708-48T>C (n.41708-48T>C) c.41141-48T>C (n.41141-48T>C) c.38483-48T>C (n.38483-48T>C) c.38402-48T>C (n.38402-48T>C) c.20165-48T>C (n.20165-48T>C) c.10019-48T>C (n.10019-48T>C) | dbSNP gnomAD v3 gnomAD v4 |