Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178572256T>ACA349636456TTN,TTN-AS1c.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)
2g.178572256T>CCA349636454TTN,TTN-AS1c.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)
2g.178572256T>GCA349636452TTN,TTN-AS1c.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)
2g.178572257C>ACA349636458TTN,TTN-AS1c.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)
2g.178572257C=CA1310531877TTN,TTN-AS1c.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=)
2g.178572257C>GCA349636459TTN,TTN-AS1c.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)
2g.178572257C>TCA430255522TTN,TTN-AS1c.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
2g.178572258A=CA1310531878TTN,TTN-AS1c.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=)
2g.178572258A>CCA349636462TTN,TTN-AS1c.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)
2g.178572258A>GCA349636466TTN,TTN-AS1c.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
2g.178572258A>TCA349636464TTN,TTN-AS1c.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)
2g.178572259A=CA1310531879TTN,TTN-AS1c.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=)
2g.178572259A>CCA349636468TTN,TTN-AS1c.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
2g.178572259A>GCA242889TTN,TTN-AS1c.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
2g.178572259A>TCA349636472TTN,TTN-AS1c.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
2g.178572260A>CCA430255531TTN,TTN-AS1c.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=)
2g.178572260A>GCA430255528TTN,TTN-AS1c.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
2g.178572260A>TCA430255530TTN,TTN-AS1c.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=)
2g.178572261G>ACA349636474TTN,TTN-AS1c.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
2g.178572261G>CCA349636476TTN,TTN-AS1c.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)
2g.178572261G>TCA349636477TTN,TTN-AS1c.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)
2g.178572262T>ACA349636479TTN,TTN-AS1c.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)
2g.178572262T>CCA349636480TTN,TTN-AS1c.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)
2g.178572262T>GCA349636481TTN,TTN-AS1c.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)
2g.178572263T>ACA430255540TTN,TTN-AS1c.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=)
2g.178572263T>CCA349636482TTN,TTN-AS1c.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)
2g.178572263T>GCA430255544TTN,TTN-AS1c.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
2g.178572263T=CA1310531880TTN,TTN-AS1c.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=)
2g.178572264A=CA1310531881TTN,TTN-AS1c.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=)
2g.178572264A>CCA349636483TTN,TTN-AS1c.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)
2g.178572264A>GCA1990295TTN,TTN-AS1c.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
2g.178572264A>TCA349636485TTN,TTN-AS1c.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)
2g.178572265T>ACA349636486TTN,TTN-AS1c.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)
2g.178572265T>CCA1990296TTN,TTN-AS1c.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
2g.178572265T>GCA349636488TTN,TTN-AS1c.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
2g.178572265T=CA1310531882TTN,TTN-AS1c.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=)
2g.178572266T>ACA349636495TTN,TTN-AS1c.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)
2g.178572266T>CCA430255555TTN,TTN-AS1c.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=)
2g.178572266T>GCA349636497TTN,TTN-AS1c.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)
2g.178572267T>ACA349636499TTN,TTN-AS1c.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)
2g.178572267T>CCA349636501TTN,TTN-AS1c.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)
2g.178572267T>GCA349636503TTN,TTN-AS1c.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)
2g.178572268T>ACA349636506TTN,TTN-AS1c.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)
2g.178572268T>CCA349636507TTN,TTN-AS1c.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)
2g.178572268T>GCA349636508TTN,TTN-AS1c.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)
2g.178572269T>ACA60998046TTN,TTN-AS1c.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
2g.178572269T>CCA430255564TTN,TTN-AS1c.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=)
2g.178572269T>GCA430255567TTN,TTN-AS1c.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=)
2g.178572269T=CA1310531883TTN,TTN-AS1c.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=)
2g.178572270C>ACA349636513TTN,TTN-AS1c.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)

Number of alleles fetched