Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178572256T>A | CA349636456 | TTN,TTN-AS1 | c.66172A>T (p.Met22058Leu) c.47257A>T (p.Met15753Leu) c.47056A>T (p.Met15686Leu) c.46681A>T (p.Met15561Leu) c.73876A>T (p.Met24626Leu) c.68953A>T (p.Met22985Leu) n.596+807T>A n.2044-10316T>A c.72973A>T (p.Met24325Leu) c.46867A>T (p.Met15623Leu) c.46726A>T (p.Met15576Leu) c.72769A>T (p.Met24257Leu) c.68167A>T (p.Met22723Leu) c.68164A>T (p.Met22722Leu) c.65206A>T (p.Met21736Leu) c.46822A>T (p.Met15608Leu) c.68317A>T (p.Met22773Leu) c.68314A>T (p.Met22772Leu) c.67747A>T (p.Met22583Leu) c.65089A>T (p.Met21697Leu) c.65008A>T (p.Met21670Leu) c.46771A>T (p.Met15591Leu) c.36625A>T (p.Met12209Leu) | |
2 | g.178572256T>C | CA349636454 | TTN,TTN-AS1 | c.66172A>G (p.Met22058Val) c.47257A>G (p.Met15753Val) c.47056A>G (p.Met15686Val) c.46681A>G (p.Met15561Val) c.73876A>G (p.Met24626Val) c.68953A>G (p.Met22985Val) n.596+807T>C n.2044-10316T>C c.72973A>G (p.Met24325Val) c.46867A>G (p.Met15623Val) c.46726A>G (p.Met15576Val) c.72769A>G (p.Met24257Val) c.68167A>G (p.Met22723Val) c.68164A>G (p.Met22722Val) c.65206A>G (p.Met21736Val) c.46822A>G (p.Met15608Val) c.68317A>G (p.Met22773Val) c.68314A>G (p.Met22772Val) c.67747A>G (p.Met22583Val) c.65089A>G (p.Met21697Val) c.65008A>G (p.Met21670Val) c.46771A>G (p.Met15591Val) c.36625A>G (p.Met12209Val) | |
2 | g.178572256T>G | CA349636452 | TTN,TTN-AS1 | c.66172A>C (p.Met22058Leu) c.47257A>C (p.Met15753Leu) c.47056A>C (p.Met15686Leu) c.46681A>C (p.Met15561Leu) c.73876A>C (p.Met24626Leu) c.68953A>C (p.Met22985Leu) n.596+807T>G n.2044-10316T>G c.72973A>C (p.Met24325Leu) c.46867A>C (p.Met15623Leu) c.46726A>C (p.Met15576Leu) c.72769A>C (p.Met24257Leu) c.68167A>C (p.Met22723Leu) c.68164A>C (p.Met22722Leu) c.65206A>C (p.Met21736Leu) c.46822A>C (p.Met15608Leu) c.68317A>C (p.Met22773Leu) c.68314A>C (p.Met22772Leu) c.67747A>C (p.Met22583Leu) c.65089A>C (p.Met21697Leu) c.65008A>C (p.Met21670Leu) c.46771A>C (p.Met15591Leu) c.36625A>C (p.Met12209Leu) | |
2 | g.178572257C>A | CA349636458 | TTN,TTN-AS1 | c.66171G>T (p.Leu22057Phe) c.47256G>T (p.Leu15752Phe) c.47055G>T (p.Leu15685Phe) c.46680G>T (p.Leu15560Phe) c.73875G>T (p.Leu24625Phe) c.68952G>T (p.Leu22984Phe) n.596+808C>A n.2044-10315C>A c.72972G>T (p.Leu24324Phe) c.46866G>T (p.Leu15622Phe) c.46725G>T (p.Leu15575Phe) c.72768G>T (p.Leu24256Phe) c.68166G>T (p.Leu22722Phe) c.68163G>T (p.Leu22721Phe) c.65205G>T (p.Leu21735Phe) c.46821G>T (p.Leu15607Phe) c.68316G>T (p.Leu22772Phe) c.68313G>T (p.Leu22771Phe) c.67746G>T (p.Leu22582Phe) c.65088G>T (p.Leu21696Phe) c.65007G>T (p.Leu21669Phe) c.46770G>T (p.Leu15590Phe) c.36624G>T (p.Leu12208Phe) | |
2 | g.178572257C= | CA1310531877 | TTN,TTN-AS1 | c.66171G= (p.Leu22057=) c.47256G= (p.Leu15752=) c.47055G= (p.Leu15685=) c.46680G= (p.Leu15560=) c.73875G= (p.Leu24625=) c.68952G= (p.Leu22984=) n.596+808C= n.2044-10315C= c.72972G= (p.Leu24324=) c.46866G= (p.Leu15622=) c.46725G= (p.Leu15575=) c.72768G= (p.Leu24256=) c.68166G= (p.Leu22722=) c.68163G= (p.Leu22721=) c.65205G= (p.Leu21735=) c.46821G= (p.Leu15607=) c.68316G= (p.Leu22772=) c.68313G= (p.Leu22771=) c.67746G= (p.Leu22582=) c.65088G= (p.Leu21696=) c.65007G= (p.Leu21669=) c.46770G= (p.Leu15590=) c.36624G= (p.Leu12208=) | |
2 | g.178572257C>G | CA349636459 | TTN,TTN-AS1 | c.66171G>C (p.Leu22057Phe) c.47256G>C (p.Leu15752Phe) c.47055G>C (p.Leu15685Phe) c.46680G>C (p.Leu15560Phe) c.73875G>C (p.Leu24625Phe) c.68952G>C (p.Leu22984Phe) n.596+808C>G n.2044-10315C>G c.72972G>C (p.Leu24324Phe) c.46866G>C (p.Leu15622Phe) c.46725G>C (p.Leu15575Phe) c.72768G>C (p.Leu24256Phe) c.68166G>C (p.Leu22722Phe) c.68163G>C (p.Leu22721Phe) c.65205G>C (p.Leu21735Phe) c.46821G>C (p.Leu15607Phe) c.68316G>C (p.Leu22772Phe) c.68313G>C (p.Leu22771Phe) c.67746G>C (p.Leu22582Phe) c.65088G>C (p.Leu21696Phe) c.65007G>C (p.Leu21669Phe) c.46770G>C (p.Leu15590Phe) c.36624G>C (p.Leu12208Phe) | |
2 | g.178572257C>T | CA430255522 | TTN,TTN-AS1 | c.66171G>A (p.Leu22057=) c.47256G>A (p.Leu15752=) c.47055G>A (p.Leu15685=) c.46680G>A (p.Leu15560=) c.73875G>A (p.Leu24625=) c.68952G>A (p.Leu22984=) n.596+808C>T n.2044-10315C>T c.72972G>A (p.Leu24324=) c.46866G>A (p.Leu15622=) c.46725G>A (p.Leu15575=) c.72768G>A (p.Leu24256=) c.68166G>A (p.Leu22722=) c.68163G>A (p.Leu22721=) c.65205G>A (p.Leu21735=) c.46821G>A (p.Leu15607=) c.68316G>A (p.Leu22772=) c.68313G>A (p.Leu22771=) c.67746G>A (p.Leu22582=) c.65088G>A (p.Leu21696=) c.65007G>A (p.Leu21669=) c.46770G>A (p.Leu15590=) c.36624G>A (p.Leu12208=) | dbSNP |
2 | g.178572258A= | CA1310531878 | TTN,TTN-AS1 | c.66170T= (p.Leu22057=) c.47255T= (p.Leu15752=) c.47054T= (p.Leu15685=) c.46679T= (p.Leu15560=) c.73874T= (p.Leu24625=) c.68951T= (p.Leu22984=) n.596+809A= n.2044-10314A= c.72971T= (p.Leu24324=) c.46865T= (p.Leu15622=) c.46724T= (p.Leu15575=) c.72767T= (p.Leu24256=) c.68165T= (p.Leu22722=) c.68162T= (p.Leu22721=) c.65204T= (p.Leu21735=) c.46820T= (p.Leu15607=) c.68315T= (p.Leu22772=) c.68312T= (p.Leu22771=) c.67745T= (p.Leu22582=) c.65087T= (p.Leu21696=) c.65006T= (p.Leu21669=) c.46769T= (p.Leu15590=) c.36623T= (p.Leu12208=) | |
2 | g.178572258A>C | CA349636462 | TTN,TTN-AS1 | c.66170T>G (p.Leu22057Trp) c.47255T>G (p.Leu15752Trp) c.47054T>G (p.Leu15685Trp) c.46679T>G (p.Leu15560Trp) c.73874T>G (p.Leu24625Trp) c.68951T>G (p.Leu22984Trp) n.596+809A>C n.2044-10314A>C c.72971T>G (p.Leu24324Trp) c.46865T>G (p.Leu15622Trp) c.46724T>G (p.Leu15575Trp) c.72767T>G (p.Leu24256Trp) c.68165T>G (p.Leu22722Trp) c.68162T>G (p.Leu22721Trp) c.65204T>G (p.Leu21735Trp) c.46820T>G (p.Leu15607Trp) c.68315T>G (p.Leu22772Trp) c.68312T>G (p.Leu22771Trp) c.67745T>G (p.Leu22582Trp) c.65087T>G (p.Leu21696Trp) c.65006T>G (p.Leu21669Trp) c.46769T>G (p.Leu15590Trp) c.36623T>G (p.Leu12208Trp) | |
2 | g.178572258A>G | CA349636466 | TTN,TTN-AS1 | c.66170T>C (p.Leu22057Ser) c.47255T>C (p.Leu15752Ser) c.47054T>C (p.Leu15685Ser) c.46679T>C (p.Leu15560Ser) c.73874T>C (p.Leu24625Ser) c.68951T>C (p.Leu22984Ser) n.596+809A>G n.2044-10314A>G c.72971T>C (p.Leu24324Ser) c.46865T>C (p.Leu15622Ser) c.46724T>C (p.Leu15575Ser) c.72767T>C (p.Leu24256Ser) c.68165T>C (p.Leu22722Ser) c.68162T>C (p.Leu22721Ser) c.65204T>C (p.Leu21735Ser) c.46820T>C (p.Leu15607Ser) c.68315T>C (p.Leu22772Ser) c.68312T>C (p.Leu22771Ser) c.67745T>C (p.Leu22582Ser) c.65087T>C (p.Leu21696Ser) c.65006T>C (p.Leu21669Ser) c.46769T>C (p.Leu15590Ser) c.36623T>C (p.Leu12208Ser) | dbSNP |
2 | g.178572258A>T | CA349636464 | TTN,TTN-AS1 | c.66170T>A (p.Leu22057Ter) c.47255T>A (p.Leu15752Ter) c.47054T>A (p.Leu15685Ter) c.46679T>A (p.Leu15560Ter) c.73874T>A (p.Leu24625Ter) c.68951T>A (p.Leu22984Ter) n.596+809A>T n.2044-10314A>T c.72971T>A (p.Leu24324Ter) c.46865T>A (p.Leu15622Ter) c.46724T>A (p.Leu15575Ter) c.72767T>A (p.Leu24256Ter) c.68165T>A (p.Leu22722Ter) c.68162T>A (p.Leu22721Ter) c.65204T>A (p.Leu21735Ter) c.46820T>A (p.Leu15607Ter) c.68315T>A (p.Leu22772Ter) c.68312T>A (p.Leu22771Ter) c.67745T>A (p.Leu22582Ter) c.65087T>A (p.Leu21696Ter) c.65006T>A (p.Leu21669Ter) c.46769T>A (p.Leu15590Ter) c.36623T>A (p.Leu12208Ter) | |
2 | g.178572259A= | CA1310531879 | TTN,TTN-AS1 | c.66169T= (p.Leu22057=) c.47254T= (p.Leu15752=) c.47053T= (p.Leu15685=) c.46678T= (p.Leu15560=) c.73873T= (p.Leu24625=) c.68950T= (p.Leu22984=) n.596+810A= n.2044-10313A= c.72970T= (p.Leu24324=) c.46864T= (p.Leu15622=) c.46723T= (p.Leu15575=) c.72766T= (p.Leu24256=) c.68164T= (p.Leu22722=) c.68161T= (p.Leu22721=) c.65203T= (p.Leu21735=) c.46819T= (p.Leu15607=) c.68314T= (p.Leu22772=) c.68311T= (p.Leu22771=) c.67744T= (p.Leu22582=) c.65086T= (p.Leu21696=) c.65005T= (p.Leu21669=) c.46768T= (p.Leu15590=) c.36622T= (p.Leu12208=) | |
2 | g.178572259A>C | CA349636468 | TTN,TTN-AS1 | c.66169T>G (p.Leu22057Val) c.47254T>G (p.Leu15752Val) c.47053T>G (p.Leu15685Val) c.46678T>G (p.Leu15560Val) c.73873T>G (p.Leu24625Val) c.68950T>G (p.Leu22984Val) n.596+810A>C n.2044-10313A>C c.72970T>G (p.Leu24324Val) c.46864T>G (p.Leu15622Val) c.46723T>G (p.Leu15575Val) c.72766T>G (p.Leu24256Val) c.68164T>G (p.Leu22722Val) c.68161T>G (p.Leu22721Val) c.65203T>G (p.Leu21735Val) c.46819T>G (p.Leu15607Val) c.68314T>G (p.Leu22772Val) c.68311T>G (p.Leu22771Val) c.67744T>G (p.Leu22582Val) c.65086T>G (p.Leu21696Val) c.65005T>G (p.Leu21669Val) c.46768T>G (p.Leu15590Val) c.36622T>G (p.Leu12208Val) | gnomAD v4 |
2 | g.178572259A>G | CA242889 | TTN,TTN-AS1 | c.66169T>C (p.Leu22057=) c.47254T>C (p.Leu15752=) c.47053T>C (p.Leu15685=) c.46678T>C (p.Leu15560=) c.73873T>C (p.Leu24625=) c.68950T>C (p.Leu22984=) n.596+810A>G n.2044-10313A>G c.72970T>C (p.Leu24324=) c.46864T>C (p.Leu15622=) c.46723T>C (p.Leu15575=) c.72766T>C (p.Leu24256=) c.68164T>C (p.Leu22722=) c.68161T>C (p.Leu22721=) c.65203T>C (p.Leu21735=) c.46819T>C (p.Leu15607=) c.68314T>C (p.Leu22772=) c.68311T>C (p.Leu22771=) c.67744T>C (p.Leu22582=) c.65086T>C (p.Leu21696=) c.65005T>C (p.Leu21669=) c.46768T>C (p.Leu15590=) c.36622T>C (p.Leu12208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178572259A>T | CA349636472 | TTN,TTN-AS1 | c.66169T>A (p.Leu22057Met) c.47254T>A (p.Leu15752Met) c.47053T>A (p.Leu15685Met) c.46678T>A (p.Leu15560Met) c.73873T>A (p.Leu24625Met) c.68950T>A (p.Leu22984Met) n.596+810A>T n.2044-10313A>T c.72970T>A (p.Leu24324Met) c.46864T>A (p.Leu15622Met) c.46723T>A (p.Leu15575Met) c.72766T>A (p.Leu24256Met) c.68164T>A (p.Leu22722Met) c.68161T>A (p.Leu22721Met) c.65203T>A (p.Leu21735Met) c.46819T>A (p.Leu15607Met) c.68314T>A (p.Leu22772Met) c.68311T>A (p.Leu22771Met) c.67744T>A (p.Leu22582Met) c.65086T>A (p.Leu21696Met) c.65005T>A (p.Leu21669Met) c.46768T>A (p.Leu15590Met) c.36622T>A (p.Leu12208Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178572260A>C | CA430255531 | TTN,TTN-AS1 | c.66168T>G (p.Thr22056=) c.47253T>G (p.Thr15751=) c.47052T>G (p.Thr15684=) c.46677T>G (p.Thr15559=) c.73872T>G (p.Thr24624=) c.68949T>G (p.Thr22983=) n.596+811A>C n.2044-10312A>C c.72969T>G (p.Thr24323=) c.46863T>G (p.Thr15621=) c.46722T>G (p.Thr15574=) c.72765T>G (p.Thr24255=) c.68163T>G (p.Thr22721=) c.68160T>G (p.Thr22720=) c.65202T>G (p.Thr21734=) c.46818T>G (p.Thr15606=) c.68313T>G (p.Thr22771=) c.68310T>G (p.Thr22770=) c.67743T>G (p.Thr22581=) c.65085T>G (p.Thr21695=) c.65004T>G (p.Thr21668=) c.46767T>G (p.Thr15589=) c.36621T>G (p.Thr12207=) | |
2 | g.178572260A>G | CA430255528 | TTN,TTN-AS1 | c.66168T>C (p.Thr22056=) c.47253T>C (p.Thr15751=) c.47052T>C (p.Thr15684=) c.46677T>C (p.Thr15559=) c.73872T>C (p.Thr24624=) c.68949T>C (p.Thr22983=) n.596+811A>G n.2044-10312A>G c.72969T>C (p.Thr24323=) c.46863T>C (p.Thr15621=) c.46722T>C (p.Thr15574=) c.72765T>C (p.Thr24255=) c.68163T>C (p.Thr22721=) c.68160T>C (p.Thr22720=) c.65202T>C (p.Thr21734=) c.46818T>C (p.Thr15606=) c.68313T>C (p.Thr22771=) c.68310T>C (p.Thr22770=) c.67743T>C (p.Thr22581=) c.65085T>C (p.Thr21695=) c.65004T>C (p.Thr21668=) c.46767T>C (p.Thr15589=) c.36621T>C (p.Thr12207=) | gnomAD v4 |
2 | g.178572260A>T | CA430255530 | TTN,TTN-AS1 | c.66168T>A (p.Thr22056=) c.47253T>A (p.Thr15751=) c.47052T>A (p.Thr15684=) c.46677T>A (p.Thr15559=) c.73872T>A (p.Thr24624=) c.68949T>A (p.Thr22983=) n.596+811A>T n.2044-10312A>T c.72969T>A (p.Thr24323=) c.46863T>A (p.Thr15621=) c.46722T>A (p.Thr15574=) c.72765T>A (p.Thr24255=) c.68163T>A (p.Thr22721=) c.68160T>A (p.Thr22720=) c.65202T>A (p.Thr21734=) c.46818T>A (p.Thr15606=) c.68313T>A (p.Thr22771=) c.68310T>A (p.Thr22770=) c.67743T>A (p.Thr22581=) c.65085T>A (p.Thr21695=) c.65004T>A (p.Thr21668=) c.46767T>A (p.Thr15589=) c.36621T>A (p.Thr12207=) | |
2 | g.178572261G>A | CA349636474 | TTN,TTN-AS1 | c.66167C>T (p.Thr22056Ile) c.47252C>T (p.Thr15751Ile) c.47051C>T (p.Thr15684Ile) c.46676C>T (p.Thr15559Ile) c.73871C>T (p.Thr24624Ile) c.68948C>T (p.Thr22983Ile) n.596+812G>A n.2044-10311G>A c.72968C>T (p.Thr24323Ile) c.46862C>T (p.Thr15621Ile) c.46721C>T (p.Thr15574Ile) c.72764C>T (p.Thr24255Ile) c.68162C>T (p.Thr22721Ile) c.68159C>T (p.Thr22720Ile) c.65201C>T (p.Thr21734Ile) c.46817C>T (p.Thr15606Ile) c.68312C>T (p.Thr22771Ile) c.68309C>T (p.Thr22770Ile) c.67742C>T (p.Thr22581Ile) c.65084C>T (p.Thr21695Ile) c.65003C>T (p.Thr21668Ile) c.46766C>T (p.Thr15589Ile) c.36620C>T (p.Thr12207Ile) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178572261G>C | CA349636476 | TTN,TTN-AS1 | c.66167C>G (p.Thr22056Ser) c.47252C>G (p.Thr15751Ser) c.47051C>G (p.Thr15684Ser) c.46676C>G (p.Thr15559Ser) c.73871C>G (p.Thr24624Ser) c.68948C>G (p.Thr22983Ser) n.596+812G>C n.2044-10311G>C c.72968C>G (p.Thr24323Ser) c.46862C>G (p.Thr15621Ser) c.46721C>G (p.Thr15574Ser) c.72764C>G (p.Thr24255Ser) c.68162C>G (p.Thr22721Ser) c.68159C>G (p.Thr22720Ser) c.65201C>G (p.Thr21734Ser) c.46817C>G (p.Thr15606Ser) c.68312C>G (p.Thr22771Ser) c.68309C>G (p.Thr22770Ser) c.67742C>G (p.Thr22581Ser) c.65084C>G (p.Thr21695Ser) c.65003C>G (p.Thr21668Ser) c.46766C>G (p.Thr15589Ser) c.36620C>G (p.Thr12207Ser) | |
2 | g.178572261G>T | CA349636477 | TTN,TTN-AS1 | c.66167C>A (p.Thr22056Asn) c.47252C>A (p.Thr15751Asn) c.47051C>A (p.Thr15684Asn) c.46676C>A (p.Thr15559Asn) c.73871C>A (p.Thr24624Asn) c.68948C>A (p.Thr22983Asn) n.596+812G>T n.2044-10311G>T c.72968C>A (p.Thr24323Asn) c.46862C>A (p.Thr15621Asn) c.46721C>A (p.Thr15574Asn) c.72764C>A (p.Thr24255Asn) c.68162C>A (p.Thr22721Asn) c.68159C>A (p.Thr22720Asn) c.65201C>A (p.Thr21734Asn) c.46817C>A (p.Thr15606Asn) c.68312C>A (p.Thr22771Asn) c.68309C>A (p.Thr22770Asn) c.67742C>A (p.Thr22581Asn) c.65084C>A (p.Thr21695Asn) c.65003C>A (p.Thr21668Asn) c.46766C>A (p.Thr15589Asn) c.36620C>A (p.Thr12207Asn) | |
2 | g.178572262T>A | CA349636479 | TTN,TTN-AS1 | c.66166A>T (p.Thr22056Ser) c.47251A>T (p.Thr15751Ser) c.47050A>T (p.Thr15684Ser) c.46675A>T (p.Thr15559Ser) c.73870A>T (p.Thr24624Ser) c.68947A>T (p.Thr22983Ser) n.596+813T>A n.2044-10310T>A c.72967A>T (p.Thr24323Ser) c.46861A>T (p.Thr15621Ser) c.46720A>T (p.Thr15574Ser) c.72763A>T (p.Thr24255Ser) c.68161A>T (p.Thr22721Ser) c.68158A>T (p.Thr22720Ser) c.65200A>T (p.Thr21734Ser) c.46816A>T (p.Thr15606Ser) c.68311A>T (p.Thr22771Ser) c.68308A>T (p.Thr22770Ser) c.67741A>T (p.Thr22581Ser) c.65083A>T (p.Thr21695Ser) c.65002A>T (p.Thr21668Ser) c.46765A>T (p.Thr15589Ser) c.36619A>T (p.Thr12207Ser) | |
2 | g.178572262T>C | CA349636480 | TTN,TTN-AS1 | c.66166A>G (p.Thr22056Ala) c.47251A>G (p.Thr15751Ala) c.47050A>G (p.Thr15684Ala) c.46675A>G (p.Thr15559Ala) c.73870A>G (p.Thr24624Ala) c.68947A>G (p.Thr22983Ala) n.596+813T>C n.2044-10310T>C c.72967A>G (p.Thr24323Ala) c.46861A>G (p.Thr15621Ala) c.46720A>G (p.Thr15574Ala) c.72763A>G (p.Thr24255Ala) c.68161A>G (p.Thr22721Ala) c.68158A>G (p.Thr22720Ala) c.65200A>G (p.Thr21734Ala) c.46816A>G (p.Thr15606Ala) c.68311A>G (p.Thr22771Ala) c.68308A>G (p.Thr22770Ala) c.67741A>G (p.Thr22581Ala) c.65083A>G (p.Thr21695Ala) c.65002A>G (p.Thr21668Ala) c.46765A>G (p.Thr15589Ala) c.36619A>G (p.Thr12207Ala) | |
2 | g.178572262T>G | CA349636481 | TTN,TTN-AS1 | c.66166A>C (p.Thr22056Pro) c.47251A>C (p.Thr15751Pro) c.47050A>C (p.Thr15684Pro) c.46675A>C (p.Thr15559Pro) c.73870A>C (p.Thr24624Pro) c.68947A>C (p.Thr22983Pro) n.596+813T>G n.2044-10310T>G c.72967A>C (p.Thr24323Pro) c.46861A>C (p.Thr15621Pro) c.46720A>C (p.Thr15574Pro) c.72763A>C (p.Thr24255Pro) c.68161A>C (p.Thr22721Pro) c.68158A>C (p.Thr22720Pro) c.65200A>C (p.Thr21734Pro) c.46816A>C (p.Thr15606Pro) c.68311A>C (p.Thr22771Pro) c.68308A>C (p.Thr22770Pro) c.67741A>C (p.Thr22581Pro) c.65083A>C (p.Thr21695Pro) c.65002A>C (p.Thr21668Pro) c.46765A>C (p.Thr15589Pro) c.36619A>C (p.Thr12207Pro) | |
2 | g.178572263T>A | CA430255540 | TTN,TTN-AS1 | c.66165A>T (p.Ile22055=) c.47250A>T (p.Ile15750=) c.47049A>T (p.Ile15683=) c.46674A>T (p.Ile15558=) c.73869A>T (p.Ile24623=) c.68946A>T (p.Ile22982=) n.596+814T>A n.2044-10309T>A c.72966A>T (p.Ile24322=) c.46860A>T (p.Ile15620=) c.46719A>T (p.Ile15573=) c.72762A>T (p.Ile24254=) c.68160A>T (p.Ile22720=) c.68157A>T (p.Ile22719=) c.65199A>T (p.Ile21733=) c.46815A>T (p.Ile15605=) c.68310A>T (p.Ile22770=) c.68307A>T (p.Ile22769=) c.67740A>T (p.Ile22580=) c.65082A>T (p.Ile21694=) c.65001A>T (p.Ile21667=) c.46764A>T (p.Ile15588=) c.36618A>T (p.Ile12206=) | |
2 | g.178572263T>C | CA349636482 | TTN,TTN-AS1 | c.66165A>G (p.Ile22055Met) c.47250A>G (p.Ile15750Met) c.47049A>G (p.Ile15683Met) c.46674A>G (p.Ile15558Met) c.73869A>G (p.Ile24623Met) c.68946A>G (p.Ile22982Met) n.596+814T>C n.2044-10309T>C c.72966A>G (p.Ile24322Met) c.46860A>G (p.Ile15620Met) c.46719A>G (p.Ile15573Met) c.72762A>G (p.Ile24254Met) c.68160A>G (p.Ile22720Met) c.68157A>G (p.Ile22719Met) c.65199A>G (p.Ile21733Met) c.46815A>G (p.Ile15605Met) c.68310A>G (p.Ile22770Met) c.68307A>G (p.Ile22769Met) c.67740A>G (p.Ile22580Met) c.65082A>G (p.Ile21694Met) c.65001A>G (p.Ile21667Met) c.46764A>G (p.Ile15588Met) c.36618A>G (p.Ile12206Met) | |
2 | g.178572263T>G | CA430255544 | TTN,TTN-AS1 | c.66165A>C (p.Ile22055=) c.47250A>C (p.Ile15750=) c.47049A>C (p.Ile15683=) c.46674A>C (p.Ile15558=) c.73869A>C (p.Ile24623=) c.68946A>C (p.Ile22982=) n.596+814T>G n.2044-10309T>G c.72966A>C (p.Ile24322=) c.46860A>C (p.Ile15620=) c.46719A>C (p.Ile15573=) c.72762A>C (p.Ile24254=) c.68160A>C (p.Ile22720=) c.68157A>C (p.Ile22719=) c.65199A>C (p.Ile21733=) c.46815A>C (p.Ile15605=) c.68310A>C (p.Ile22770=) c.68307A>C (p.Ile22769=) c.67740A>C (p.Ile22580=) c.65082A>C (p.Ile21694=) c.65001A>C (p.Ile21667=) c.46764A>C (p.Ile15588=) c.36618A>C (p.Ile12206=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178572263T= | CA1310531880 | TTN,TTN-AS1 | c.66165A= (p.Ile22055=) c.47250A= (p.Ile15750=) c.47049A= (p.Ile15683=) c.46674A= (p.Ile15558=) c.73869A= (p.Ile24623=) c.68946A= (p.Ile22982=) n.596+814T= n.2044-10309T= c.72966A= (p.Ile24322=) c.46860A= (p.Ile15620=) c.46719A= (p.Ile15573=) c.72762A= (p.Ile24254=) c.68160A= (p.Ile22720=) c.68157A= (p.Ile22719=) c.65199A= (p.Ile21733=) c.46815A= (p.Ile15605=) c.68310A= (p.Ile22770=) c.68307A= (p.Ile22769=) c.67740A= (p.Ile22580=) c.65082A= (p.Ile21694=) c.65001A= (p.Ile21667=) c.46764A= (p.Ile15588=) c.36618A= (p.Ile12206=) | |
2 | g.178572264A= | CA1310531881 | TTN,TTN-AS1 | c.66164T= (p.Ile22055=) c.47249T= (p.Ile15750=) c.47048T= (p.Ile15683=) c.46673T= (p.Ile15558=) c.73868T= (p.Ile24623=) c.68945T= (p.Ile22982=) n.596+815A= n.2044-10308A= c.72965T= (p.Ile24322=) c.46859T= (p.Ile15620=) c.46718T= (p.Ile15573=) c.72761T= (p.Ile24254=) c.68159T= (p.Ile22720=) c.68156T= (p.Ile22719=) c.65198T= (p.Ile21733=) c.46814T= (p.Ile15605=) c.68309T= (p.Ile22770=) c.68306T= (p.Ile22769=) c.67739T= (p.Ile22580=) c.65081T= (p.Ile21694=) c.65000T= (p.Ile21667=) c.46763T= (p.Ile15588=) c.36617T= (p.Ile12206=) | |
2 | g.178572264A>C | CA349636483 | TTN,TTN-AS1 | c.66164T>G (p.Ile22055Arg) c.47249T>G (p.Ile15750Arg) c.47048T>G (p.Ile15683Arg) c.46673T>G (p.Ile15558Arg) c.73868T>G (p.Ile24623Arg) c.68945T>G (p.Ile22982Arg) n.596+815A>C n.2044-10308A>C c.72965T>G (p.Ile24322Arg) c.46859T>G (p.Ile15620Arg) c.46718T>G (p.Ile15573Arg) c.72761T>G (p.Ile24254Arg) c.68159T>G (p.Ile22720Arg) c.68156T>G (p.Ile22719Arg) c.65198T>G (p.Ile21733Arg) c.46814T>G (p.Ile15605Arg) c.68309T>G (p.Ile22770Arg) c.68306T>G (p.Ile22769Arg) c.67739T>G (p.Ile22580Arg) c.65081T>G (p.Ile21694Arg) c.65000T>G (p.Ile21667Arg) c.46763T>G (p.Ile15588Arg) c.36617T>G (p.Ile12206Arg) | |
2 | g.178572264A>G | CA1990295 | TTN,TTN-AS1 | c.66164T>C (p.Ile22055Thr) c.47249T>C (p.Ile15750Thr) c.47048T>C (p.Ile15683Thr) c.46673T>C (p.Ile15558Thr) c.73868T>C (p.Ile24623Thr) c.68945T>C (p.Ile22982Thr) n.596+815A>G n.2044-10308A>G c.72965T>C (p.Ile24322Thr) c.46859T>C (p.Ile15620Thr) c.46718T>C (p.Ile15573Thr) c.72761T>C (p.Ile24254Thr) c.68159T>C (p.Ile22720Thr) c.68156T>C (p.Ile22719Thr) c.65198T>C (p.Ile21733Thr) c.46814T>C (p.Ile15605Thr) c.68309T>C (p.Ile22770Thr) c.68306T>C (p.Ile22769Thr) c.67739T>C (p.Ile22580Thr) c.65081T>C (p.Ile21694Thr) c.65000T>C (p.Ile21667Thr) c.46763T>C (p.Ile15588Thr) c.36617T>C (p.Ile12206Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178572264A>T | CA349636485 | TTN,TTN-AS1 | c.66164T>A (p.Ile22055Lys) c.47249T>A (p.Ile15750Lys) c.47048T>A (p.Ile15683Lys) c.46673T>A (p.Ile15558Lys) c.73868T>A (p.Ile24623Lys) c.68945T>A (p.Ile22982Lys) n.596+815A>T n.2044-10308A>T c.72965T>A (p.Ile24322Lys) c.46859T>A (p.Ile15620Lys) c.46718T>A (p.Ile15573Lys) c.72761T>A (p.Ile24254Lys) c.68159T>A (p.Ile22720Lys) c.68156T>A (p.Ile22719Lys) c.65198T>A (p.Ile21733Lys) c.46814T>A (p.Ile15605Lys) c.68309T>A (p.Ile22770Lys) c.68306T>A (p.Ile22769Lys) c.67739T>A (p.Ile22580Lys) c.65081T>A (p.Ile21694Lys) c.65000T>A (p.Ile21667Lys) c.46763T>A (p.Ile15588Lys) c.36617T>A (p.Ile12206Lys) | |
2 | g.178572265T>A | CA349636486 | TTN,TTN-AS1 | c.66163A>T (p.Ile22055Leu) c.47248A>T (p.Ile15750Leu) c.47047A>T (p.Ile15683Leu) c.46672A>T (p.Ile15558Leu) c.73867A>T (p.Ile24623Leu) c.68944A>T (p.Ile22982Leu) n.596+816T>A n.2044-10307T>A c.72964A>T (p.Ile24322Leu) c.46858A>T (p.Ile15620Leu) c.46717A>T (p.Ile15573Leu) c.72760A>T (p.Ile24254Leu) c.68158A>T (p.Ile22720Leu) c.68155A>T (p.Ile22719Leu) c.65197A>T (p.Ile21733Leu) c.46813A>T (p.Ile15605Leu) c.68308A>T (p.Ile22770Leu) c.68305A>T (p.Ile22769Leu) c.67738A>T (p.Ile22580Leu) c.65080A>T (p.Ile21694Leu) c.64999A>T (p.Ile21667Leu) c.46762A>T (p.Ile15588Leu) c.36616A>T (p.Ile12206Leu) | |
2 | g.178572265T>C | CA1990296 | TTN,TTN-AS1 | c.66163A>G (p.Ile22055Val) c.47248A>G (p.Ile15750Val) c.47047A>G (p.Ile15683Val) c.46672A>G (p.Ile15558Val) c.73867A>G (p.Ile24623Val) c.68944A>G (p.Ile22982Val) n.596+816T>C n.2044-10307T>C c.72964A>G (p.Ile24322Val) c.46858A>G (p.Ile15620Val) c.46717A>G (p.Ile15573Val) c.72760A>G (p.Ile24254Val) c.68158A>G (p.Ile22720Val) c.68155A>G (p.Ile22719Val) c.65197A>G (p.Ile21733Val) c.46813A>G (p.Ile15605Val) c.68308A>G (p.Ile22770Val) c.68305A>G (p.Ile22769Val) c.67738A>G (p.Ile22580Val) c.65080A>G (p.Ile21694Val) c.64999A>G (p.Ile21667Val) c.46762A>G (p.Ile15588Val) c.36616A>G (p.Ile12206Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178572265T>G | CA349636488 | TTN,TTN-AS1 | c.66163A>C (p.Ile22055Leu) c.47248A>C (p.Ile15750Leu) c.47047A>C (p.Ile15683Leu) c.46672A>C (p.Ile15558Leu) c.73867A>C (p.Ile24623Leu) c.68944A>C (p.Ile22982Leu) n.596+816T>G n.2044-10307T>G c.72964A>C (p.Ile24322Leu) c.46858A>C (p.Ile15620Leu) c.46717A>C (p.Ile15573Leu) c.72760A>C (p.Ile24254Leu) c.68158A>C (p.Ile22720Leu) c.68155A>C (p.Ile22719Leu) c.65197A>C (p.Ile21733Leu) c.46813A>C (p.Ile15605Leu) c.68308A>C (p.Ile22770Leu) c.68305A>C (p.Ile22769Leu) c.67738A>C (p.Ile22580Leu) c.65080A>C (p.Ile21694Leu) c.64999A>C (p.Ile21667Leu) c.46762A>C (p.Ile15588Leu) c.36616A>C (p.Ile12206Leu) | dbSNP gnomAD v4 |
2 | g.178572265T= | CA1310531882 | TTN,TTN-AS1 | c.66163A= (p.Ile22055=) c.47248A= (p.Ile15750=) c.47047A= (p.Ile15683=) c.46672A= (p.Ile15558=) c.73867A= (p.Ile24623=) c.68944A= (p.Ile22982=) n.596+816T= n.2044-10307T= c.72964A= (p.Ile24322=) c.46858A= (p.Ile15620=) c.46717A= (p.Ile15573=) c.72760A= (p.Ile24254=) c.68158A= (p.Ile22720=) c.68155A= (p.Ile22719=) c.65197A= (p.Ile21733=) c.46813A= (p.Ile15605=) c.68308A= (p.Ile22770=) c.68305A= (p.Ile22769=) c.67738A= (p.Ile22580=) c.65080A= (p.Ile21694=) c.64999A= (p.Ile21667=) c.46762A= (p.Ile15588=) c.36616A= (p.Ile12206=) | |
2 | g.178572266T>A | CA349636495 | TTN,TTN-AS1 | c.66162A>T (p.Lys22054Asn) c.47247A>T (p.Lys15749Asn) c.47046A>T (p.Lys15682Asn) c.46671A>T (p.Lys15557Asn) c.73866A>T (p.Lys24622Asn) c.68943A>T (p.Lys22981Asn) n.596+817T>A n.2044-10306T>A c.72963A>T (p.Lys24321Asn) c.46857A>T (p.Lys15619Asn) c.46716A>T (p.Lys15572Asn) c.72759A>T (p.Lys24253Asn) c.68157A>T (p.Lys22719Asn) c.68154A>T (p.Lys22718Asn) c.65196A>T (p.Lys21732Asn) c.46812A>T (p.Lys15604Asn) c.68307A>T (p.Lys22769Asn) c.68304A>T (p.Lys22768Asn) c.67737A>T (p.Lys22579Asn) c.65079A>T (p.Lys21693Asn) c.64998A>T (p.Lys21666Asn) c.46761A>T (p.Lys15587Asn) c.36615A>T (p.Lys12205Asn) | |
2 | g.178572266T>C | CA430255555 | TTN,TTN-AS1 | c.66162A>G (p.Lys22054=) c.47247A>G (p.Lys15749=) c.47046A>G (p.Lys15682=) c.46671A>G (p.Lys15557=) c.73866A>G (p.Lys24622=) c.68943A>G (p.Lys22981=) n.596+817T>C n.2044-10306T>C c.72963A>G (p.Lys24321=) c.46857A>G (p.Lys15619=) c.46716A>G (p.Lys15572=) c.72759A>G (p.Lys24253=) c.68157A>G (p.Lys22719=) c.68154A>G (p.Lys22718=) c.65196A>G (p.Lys21732=) c.46812A>G (p.Lys15604=) c.68307A>G (p.Lys22769=) c.68304A>G (p.Lys22768=) c.67737A>G (p.Lys22579=) c.65079A>G (p.Lys21693=) c.64998A>G (p.Lys21666=) c.46761A>G (p.Lys15587=) c.36615A>G (p.Lys12205=) | |
2 | g.178572266T>G | CA349636497 | TTN,TTN-AS1 | c.66162A>C (p.Lys22054Asn) c.47247A>C (p.Lys15749Asn) c.47046A>C (p.Lys15682Asn) c.46671A>C (p.Lys15557Asn) c.73866A>C (p.Lys24622Asn) c.68943A>C (p.Lys22981Asn) n.596+817T>G n.2044-10306T>G c.72963A>C (p.Lys24321Asn) c.46857A>C (p.Lys15619Asn) c.46716A>C (p.Lys15572Asn) c.72759A>C (p.Lys24253Asn) c.68157A>C (p.Lys22719Asn) c.68154A>C (p.Lys22718Asn) c.65196A>C (p.Lys21732Asn) c.46812A>C (p.Lys15604Asn) c.68307A>C (p.Lys22769Asn) c.68304A>C (p.Lys22768Asn) c.67737A>C (p.Lys22579Asn) c.65079A>C (p.Lys21693Asn) c.64998A>C (p.Lys21666Asn) c.46761A>C (p.Lys15587Asn) c.36615A>C (p.Lys12205Asn) | |
2 | g.178572267T>A | CA349636499 | TTN,TTN-AS1 | c.66161A>T (p.Lys22054Ile) c.47246A>T (p.Lys15749Ile) c.47045A>T (p.Lys15682Ile) c.46670A>T (p.Lys15557Ile) c.73865A>T (p.Lys24622Ile) c.68942A>T (p.Lys22981Ile) n.596+818T>A n.2044-10305T>A c.72962A>T (p.Lys24321Ile) c.46856A>T (p.Lys15619Ile) c.46715A>T (p.Lys15572Ile) c.72758A>T (p.Lys24253Ile) c.68156A>T (p.Lys22719Ile) c.68153A>T (p.Lys22718Ile) c.65195A>T (p.Lys21732Ile) c.46811A>T (p.Lys15604Ile) c.68306A>T (p.Lys22769Ile) c.68303A>T (p.Lys22768Ile) c.67736A>T (p.Lys22579Ile) c.65078A>T (p.Lys21693Ile) c.64997A>T (p.Lys21666Ile) c.46760A>T (p.Lys15587Ile) c.36614A>T (p.Lys12205Ile) | |
2 | g.178572267T>C | CA349636501 | TTN,TTN-AS1 | c.66161A>G (p.Lys22054Arg) c.47246A>G (p.Lys15749Arg) c.47045A>G (p.Lys15682Arg) c.46670A>G (p.Lys15557Arg) c.73865A>G (p.Lys24622Arg) c.68942A>G (p.Lys22981Arg) n.596+818T>C n.2044-10305T>C c.72962A>G (p.Lys24321Arg) c.46856A>G (p.Lys15619Arg) c.46715A>G (p.Lys15572Arg) c.72758A>G (p.Lys24253Arg) c.68156A>G (p.Lys22719Arg) c.68153A>G (p.Lys22718Arg) c.65195A>G (p.Lys21732Arg) c.46811A>G (p.Lys15604Arg) c.68306A>G (p.Lys22769Arg) c.68303A>G (p.Lys22768Arg) c.67736A>G (p.Lys22579Arg) c.65078A>G (p.Lys21693Arg) c.64997A>G (p.Lys21666Arg) c.46760A>G (p.Lys15587Arg) c.36614A>G (p.Lys12205Arg) | |
2 | g.178572267T>G | CA349636503 | TTN,TTN-AS1 | c.66161A>C (p.Lys22054Thr) c.47246A>C (p.Lys15749Thr) c.47045A>C (p.Lys15682Thr) c.46670A>C (p.Lys15557Thr) c.73865A>C (p.Lys24622Thr) c.68942A>C (p.Lys22981Thr) n.596+818T>G n.2044-10305T>G c.72962A>C (p.Lys24321Thr) c.46856A>C (p.Lys15619Thr) c.46715A>C (p.Lys15572Thr) c.72758A>C (p.Lys24253Thr) c.68156A>C (p.Lys22719Thr) c.68153A>C (p.Lys22718Thr) c.65195A>C (p.Lys21732Thr) c.46811A>C (p.Lys15604Thr) c.68306A>C (p.Lys22769Thr) c.68303A>C (p.Lys22768Thr) c.67736A>C (p.Lys22579Thr) c.65078A>C (p.Lys21693Thr) c.64997A>C (p.Lys21666Thr) c.46760A>C (p.Lys15587Thr) c.36614A>C (p.Lys12205Thr) | |
2 | g.178572268T>A | CA349636506 | TTN,TTN-AS1 | c.66160A>T (p.Lys22054Ter) c.47245A>T (p.Lys15749Ter) c.47044A>T (p.Lys15682Ter) c.46669A>T (p.Lys15557Ter) c.73864A>T (p.Lys24622Ter) c.68941A>T (p.Lys22981Ter) n.596+819T>A n.2044-10304T>A c.72961A>T (p.Lys24321Ter) c.46855A>T (p.Lys15619Ter) c.46714A>T (p.Lys15572Ter) c.72757A>T (p.Lys24253Ter) c.68155A>T (p.Lys22719Ter) c.68152A>T (p.Lys22718Ter) c.65194A>T (p.Lys21732Ter) c.46810A>T (p.Lys15604Ter) c.68305A>T (p.Lys22769Ter) c.68302A>T (p.Lys22768Ter) c.67735A>T (p.Lys22579Ter) c.65077A>T (p.Lys21693Ter) c.64996A>T (p.Lys21666Ter) c.46759A>T (p.Lys15587Ter) c.36613A>T (p.Lys12205Ter) | |
2 | g.178572268T>C | CA349636507 | TTN,TTN-AS1 | c.66160A>G (p.Lys22054Glu) c.47245A>G (p.Lys15749Glu) c.47044A>G (p.Lys15682Glu) c.46669A>G (p.Lys15557Glu) c.73864A>G (p.Lys24622Glu) c.68941A>G (p.Lys22981Glu) n.596+819T>C n.2044-10304T>C c.72961A>G (p.Lys24321Glu) c.46855A>G (p.Lys15619Glu) c.46714A>G (p.Lys15572Glu) c.72757A>G (p.Lys24253Glu) c.68155A>G (p.Lys22719Glu) c.68152A>G (p.Lys22718Glu) c.65194A>G (p.Lys21732Glu) c.46810A>G (p.Lys15604Glu) c.68305A>G (p.Lys22769Glu) c.68302A>G (p.Lys22768Glu) c.67735A>G (p.Lys22579Glu) c.65077A>G (p.Lys21693Glu) c.64996A>G (p.Lys21666Glu) c.46759A>G (p.Lys15587Glu) c.36613A>G (p.Lys12205Glu) | |
2 | g.178572268T>G | CA349636508 | TTN,TTN-AS1 | c.66160A>C (p.Lys22054Gln) c.47245A>C (p.Lys15749Gln) c.47044A>C (p.Lys15682Gln) c.46669A>C (p.Lys15557Gln) c.73864A>C (p.Lys24622Gln) c.68941A>C (p.Lys22981Gln) n.596+819T>G n.2044-10304T>G c.72961A>C (p.Lys24321Gln) c.46855A>C (p.Lys15619Gln) c.46714A>C (p.Lys15572Gln) c.72757A>C (p.Lys24253Gln) c.68155A>C (p.Lys22719Gln) c.68152A>C (p.Lys22718Gln) c.65194A>C (p.Lys21732Gln) c.46810A>C (p.Lys15604Gln) c.68305A>C (p.Lys22769Gln) c.68302A>C (p.Lys22768Gln) c.67735A>C (p.Lys22579Gln) c.65077A>C (p.Lys21693Gln) c.64996A>C (p.Lys21666Gln) c.46759A>C (p.Lys15587Gln) c.36613A>C (p.Lys12205Gln) | |
2 | g.178572269T>A | CA60998046 | TTN,TTN-AS1 | c.66159A>T (p.Gly22053=) c.47244A>T (p.Gly15748=) c.47043A>T (p.Gly15681=) c.46668A>T (p.Gly15556=) c.73863A>T (p.Gly24621=) c.68940A>T (p.Gly22980=) n.596+820T>A n.2044-10303T>A c.72960A>T (p.Gly24320=) c.46854A>T (p.Gly15618=) c.46713A>T (p.Gly15571=) c.72756A>T (p.Gly24252=) c.68154A>T (p.Gly22718=) c.68151A>T (p.Gly22717=) c.65193A>T (p.Gly21731=) c.46809A>T (p.Gly15603=) c.68304A>T (p.Gly22768=) c.68301A>T (p.Gly22767=) c.67734A>T (p.Gly22578=) c.65076A>T (p.Gly21692=) c.64995A>T (p.Gly21665=) c.46758A>T (p.Gly15586=) c.36612A>T (p.Gly12204=) | dbSNP |
2 | g.178572269T>C | CA430255564 | TTN,TTN-AS1 | c.66159A>G (p.Gly22053=) c.47244A>G (p.Gly15748=) c.47043A>G (p.Gly15681=) c.46668A>G (p.Gly15556=) c.73863A>G (p.Gly24621=) c.68940A>G (p.Gly22980=) n.596+820T>C n.2044-10303T>C c.72960A>G (p.Gly24320=) c.46854A>G (p.Gly15618=) c.46713A>G (p.Gly15571=) c.72756A>G (p.Gly24252=) c.68154A>G (p.Gly22718=) c.68151A>G (p.Gly22717=) c.65193A>G (p.Gly21731=) c.46809A>G (p.Gly15603=) c.68304A>G (p.Gly22768=) c.68301A>G (p.Gly22767=) c.67734A>G (p.Gly22578=) c.65076A>G (p.Gly21692=) c.64995A>G (p.Gly21665=) c.46758A>G (p.Gly15586=) c.36612A>G (p.Gly12204=) | |
2 | g.178572269T>G | CA430255567 | TTN,TTN-AS1 | c.66159A>C (p.Gly22053=) c.47244A>C (p.Gly15748=) c.47043A>C (p.Gly15681=) c.46668A>C (p.Gly15556=) c.73863A>C (p.Gly24621=) c.68940A>C (p.Gly22980=) n.596+820T>G n.2044-10303T>G c.72960A>C (p.Gly24320=) c.46854A>C (p.Gly15618=) c.46713A>C (p.Gly15571=) c.72756A>C (p.Gly24252=) c.68154A>C (p.Gly22718=) c.68151A>C (p.Gly22717=) c.65193A>C (p.Gly21731=) c.46809A>C (p.Gly15603=) c.68304A>C (p.Gly22768=) c.68301A>C (p.Gly22767=) c.67734A>C (p.Gly22578=) c.65076A>C (p.Gly21692=) c.64995A>C (p.Gly21665=) c.46758A>C (p.Gly15586=) c.36612A>C (p.Gly12204=) | |
2 | g.178572269T= | CA1310531883 | TTN,TTN-AS1 | c.66159A= (p.Gly22053=) c.47244A= (p.Gly15748=) c.47043A= (p.Gly15681=) c.46668A= (p.Gly15556=) c.73863A= (p.Gly24621=) c.68940A= (p.Gly22980=) n.596+820T= n.2044-10303T= c.72960A= (p.Gly24320=) c.46854A= (p.Gly15618=) c.46713A= (p.Gly15571=) c.72756A= (p.Gly24252=) c.68154A= (p.Gly22718=) c.68151A= (p.Gly22717=) c.65193A= (p.Gly21731=) c.46809A= (p.Gly15603=) c.68304A= (p.Gly22768=) c.68301A= (p.Gly22767=) c.67734A= (p.Gly22578=) c.65076A= (p.Gly21692=) c.64995A= (p.Gly21665=) c.46758A= (p.Gly15586=) c.36612A= (p.Gly12204=) | |
2 | g.178572270C>A | CA349636513 | TTN,TTN-AS1 | c.66158G>T (p.Gly22053Val) c.47243G>T (p.Gly15748Val) c.47042G>T (p.Gly15681Val) c.46667G>T (p.Gly15556Val) c.73862G>T (p.Gly24621Val) c.68939G>T (p.Gly22980Val) n.596+821C>A n.2044-10302C>A c.72959G>T (p.Gly24320Val) c.46853G>T (p.Gly15618Val) c.46712G>T (p.Gly15571Val) c.72755G>T (p.Gly24252Val) c.68153G>T (p.Gly22718Val) c.68150G>T (p.Gly22717Val) c.65192G>T (p.Gly21731Val) c.46808G>T (p.Gly15603Val) c.68303G>T (p.Gly22768Val) c.68300G>T (p.Gly22767Val) c.67733G>T (p.Gly22578Val) c.65075G>T (p.Gly21692Val) c.64994G>T (p.Gly21665Val) c.46757G>T (p.Gly15586Val) c.36611G>T (p.Gly12204Val) |