Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178570446G>ACA349620932TTN,TTN-AS1c.67982C>T (p.Pro22661Leu)
c.49067C>T (p.Pro16356Leu)
c.48866C>T (p.Pro16289Leu)
c.48491C>T (p.Pro16164Leu)
c.75686C>T (p.Pro25229Leu)
c.70763C>T (p.Pro23588Leu)
n.447-854G>A
n.2044-12126G>A
c.74783C>T (p.Pro24928Leu)
c.48677C>T (p.Pro16226Leu)
c.48536C>T (p.Pro16179Leu)
c.74579C>T (p.Pro24860Leu)
c.69977C>T (p.Pro23326Leu)
c.69974C>T (p.Pro23325Leu)
c.67016C>T (p.Pro22339Leu)
c.48632C>T (p.Pro16211Leu)
c.70127C>T (p.Pro23376Leu)
c.70124C>T (p.Pro23375Leu)
c.69557C>T (p.Pro23186Leu)
c.66899C>T (p.Pro22300Leu)
c.66818C>T (p.Pro22273Leu)
c.48581C>T (p.Pro16194Leu)
c.38435C>T (p.Pro12812Leu)
 gnomAD v4
2g.178570446G>CCA349620924TTN,TTN-AS1c.67982C>G (p.Pro22661Arg)
c.49067C>G (p.Pro16356Arg)
c.48866C>G (p.Pro16289Arg)
c.48491C>G (p.Pro16164Arg)
c.75686C>G (p.Pro25229Arg)
c.70763C>G (p.Pro23588Arg)
n.447-854G>C
n.2044-12126G>C
c.74783C>G (p.Pro24928Arg)
c.48677C>G (p.Pro16226Arg)
c.48536C>G (p.Pro16179Arg)
c.74579C>G (p.Pro24860Arg)
c.69977C>G (p.Pro23326Arg)
c.69974C>G (p.Pro23325Arg)
c.67016C>G (p.Pro22339Arg)
c.48632C>G (p.Pro16211Arg)
c.70127C>G (p.Pro23376Arg)
c.70124C>G (p.Pro23375Arg)
c.69557C>G (p.Pro23186Arg)
c.66899C>G (p.Pro22300Arg)
c.66818C>G (p.Pro22273Arg)
c.48581C>G (p.Pro16194Arg)
c.38435C>G (p.Pro12812Arg)
2g.178570446G>TCA349620927TTN,TTN-AS1c.67982C>A (p.Pro22661Gln)
c.49067C>A (p.Pro16356Gln)
c.48866C>A (p.Pro16289Gln)
c.48491C>A (p.Pro16164Gln)
c.75686C>A (p.Pro25229Gln)
c.70763C>A (p.Pro23588Gln)
n.447-854G>T
n.2044-12126G>T
c.74783C>A (p.Pro24928Gln)
c.48677C>A (p.Pro16226Gln)
c.48536C>A (p.Pro16179Gln)
c.74579C>A (p.Pro24860Gln)
c.69977C>A (p.Pro23326Gln)
c.69974C>A (p.Pro23325Gln)
c.67016C>A (p.Pro22339Gln)
c.48632C>A (p.Pro16211Gln)
c.70127C>A (p.Pro23376Gln)
c.70124C>A (p.Pro23375Gln)
c.69557C>A (p.Pro23186Gln)
c.66899C>A (p.Pro22300Gln)
c.66818C>A (p.Pro22273Gln)
c.48581C>A (p.Pro16194Gln)
c.38435C>A (p.Pro12812Gln)
2g.178570447G>ACA349620937TTN,TTN-AS1c.67981C>T (p.Pro22661Ser)
c.49066C>T (p.Pro16356Ser)
c.48865C>T (p.Pro16289Ser)
c.48490C>T (p.Pro16164Ser)
c.75685C>T (p.Pro25229Ser)
c.70762C>T (p.Pro23588Ser)
n.447-853G>A
n.2044-12125G>A
c.74782C>T (p.Pro24928Ser)
c.48676C>T (p.Pro16226Ser)
c.48535C>T (p.Pro16179Ser)
c.74578C>T (p.Pro24860Ser)
c.69976C>T (p.Pro23326Ser)
c.69973C>T (p.Pro23325Ser)
c.67015C>T (p.Pro22339Ser)
c.48631C>T (p.Pro16211Ser)
c.70126C>T (p.Pro23376Ser)
c.70123C>T (p.Pro23375Ser)
c.69556C>T (p.Pro23186Ser)
c.66898C>T (p.Pro22300Ser)
c.66817C>T (p.Pro22273Ser)
c.48580C>T (p.Pro16194Ser)
c.38434C>T (p.Pro12812Ser)
 dbSNP gnomAD v4
2g.178570447G>CCA1990010TTN,TTN-AS1c.67981C>G (p.Pro22661Ala)
c.49066C>G (p.Pro16356Ala)
c.48865C>G (p.Pro16289Ala)
c.48490C>G (p.Pro16164Ala)
c.75685C>G (p.Pro25229Ala)
c.70762C>G (p.Pro23588Ala)
n.447-853G>C
n.2044-12125G>C
c.74782C>G (p.Pro24928Ala)
c.48676C>G (p.Pro16226Ala)
c.48535C>G (p.Pro16179Ala)
c.74578C>G (p.Pro24860Ala)
c.69976C>G (p.Pro23326Ala)
c.69973C>G (p.Pro23325Ala)
c.67015C>G (p.Pro22339Ala)
c.48631C>G (p.Pro16211Ala)
c.70126C>G (p.Pro23376Ala)
c.70123C>G (p.Pro23375Ala)
c.69556C>G (p.Pro23186Ala)
c.66898C>G (p.Pro22300Ala)
c.66817C>G (p.Pro22273Ala)
c.48580C>G (p.Pro16194Ala)
c.38434C>G (p.Pro12812Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178570447G=CA1310531112TTN,TTN-AS1c.67981C= (p.Pro22661=)
c.49066C= (p.Pro16356=)
c.48865C= (p.Pro16289=)
c.48490C= (p.Pro16164=)
c.75685C= (p.Pro25229=)
c.70762C= (p.Pro23588=)
n.447-853G=
n.2044-12125G=
c.74782C= (p.Pro24928=)
c.48676C= (p.Pro16226=)
c.48535C= (p.Pro16179=)
c.74578C= (p.Pro24860=)
c.69976C= (p.Pro23326=)
c.69973C= (p.Pro23325=)
c.67015C= (p.Pro22339=)
c.48631C= (p.Pro16211=)
c.70126C= (p.Pro23376=)
c.70123C= (p.Pro23375=)
c.69556C= (p.Pro23186=)
c.66898C= (p.Pro22300=)
c.66817C= (p.Pro22273=)
c.48580C= (p.Pro16194=)
c.38434C= (p.Pro12812=)
2g.178570447G>TCA349620939TTN,TTN-AS1c.67981C>A (p.Pro22661Thr)
c.49066C>A (p.Pro16356Thr)
c.48865C>A (p.Pro16289Thr)
c.48490C>A (p.Pro16164Thr)
c.75685C>A (p.Pro25229Thr)
c.70762C>A (p.Pro23588Thr)
n.447-853G>T
n.2044-12125G>T
c.74782C>A (p.Pro24928Thr)
c.48676C>A (p.Pro16226Thr)
c.48535C>A (p.Pro16179Thr)
c.74578C>A (p.Pro24860Thr)
c.69976C>A (p.Pro23326Thr)
c.69973C>A (p.Pro23325Thr)
c.67015C>A (p.Pro22339Thr)
c.48631C>A (p.Pro16211Thr)
c.70126C>A (p.Pro23376Thr)
c.70123C>A (p.Pro23375Thr)
c.69556C>A (p.Pro23186Thr)
c.66898C>A (p.Pro22300Thr)
c.66817C>A (p.Pro22273Thr)
c.48580C>A (p.Pro16194Thr)
c.38434C>A (p.Pro12812Thr)
2g.178570448G>ACA430254766TTN,TTN-AS1c.67980C>T (p.Pro22660=)
c.49065C>T (p.Pro16355=)
c.48864C>T (p.Pro16288=)
c.48489C>T (p.Pro16163=)
c.75684C>T (p.Pro25228=)
c.70761C>T (p.Pro23587=)
n.447-852G>A
n.2044-12124G>A
c.74781C>T (p.Pro24927=)
c.48675C>T (p.Pro16225=)
c.48534C>T (p.Pro16178=)
c.74577C>T (p.Pro24859=)
c.69975C>T (p.Pro23325=)
c.69972C>T (p.Pro23324=)
c.67014C>T (p.Pro22338=)
c.48630C>T (p.Pro16210=)
c.70125C>T (p.Pro23375=)
c.70122C>T (p.Pro23374=)
c.69555C>T (p.Pro23185=)
c.66897C>T (p.Pro22299=)
c.66816C>T (p.Pro22272=)
c.48579C>T (p.Pro16193=)
c.38433C>T (p.Pro12811=)
2g.178570448G>CCA430254767TTN,TTN-AS1c.67980C>G (p.Pro22660=)
c.49065C>G (p.Pro16355=)
c.48864C>G (p.Pro16288=)
c.48489C>G (p.Pro16163=)
c.75684C>G (p.Pro25228=)
c.70761C>G (p.Pro23587=)
n.447-852G>C
n.2044-12124G>C
c.74781C>G (p.Pro24927=)
c.48675C>G (p.Pro16225=)
c.48534C>G (p.Pro16178=)
c.74577C>G (p.Pro24859=)
c.69975C>G (p.Pro23325=)
c.69972C>G (p.Pro23324=)
c.67014C>G (p.Pro22338=)
c.48630C>G (p.Pro16210=)
c.70125C>G (p.Pro23375=)
c.70122C>G (p.Pro23374=)
c.69555C>G (p.Pro23185=)
c.66897C>G (p.Pro22299=)
c.66816C>G (p.Pro22272=)
c.48579C>G (p.Pro16193=)
c.38433C>G (p.Pro12811=)
2g.178570448G>TCA430254768TTN,TTN-AS1c.67980C>A (p.Pro22660=)
c.49065C>A (p.Pro16355=)
c.48864C>A (p.Pro16288=)
c.48489C>A (p.Pro16163=)
c.75684C>A (p.Pro25228=)
c.70761C>A (p.Pro23587=)
n.447-852G>T
n.2044-12124G>T
c.74781C>A (p.Pro24927=)
c.48675C>A (p.Pro16225=)
c.48534C>A (p.Pro16178=)
c.74577C>A (p.Pro24859=)
c.69975C>A (p.Pro23325=)
c.69972C>A (p.Pro23324=)
c.67014C>A (p.Pro22338=)
c.48630C>A (p.Pro16210=)
c.70125C>A (p.Pro23375=)
c.70122C>A (p.Pro23374=)
c.69555C>A (p.Pro23185=)
c.66897C>A (p.Pro22299=)
c.66816C>A (p.Pro22272=)
c.48579C>A (p.Pro16193=)
c.38433C>A (p.Pro12811=)
2g.178570449G>ACA349620944TTN,TTN-AS1c.67979C>T (p.Pro22660Leu)
c.49064C>T (p.Pro16355Leu)
c.48863C>T (p.Pro16288Leu)
c.48488C>T (p.Pro16163Leu)
c.75683C>T (p.Pro25228Leu)
c.70760C>T (p.Pro23587Leu)
n.447-851G>A
n.2044-12123G>A
c.74780C>T (p.Pro24927Leu)
c.48674C>T (p.Pro16225Leu)
c.48533C>T (p.Pro16178Leu)
c.74576C>T (p.Pro24859Leu)
c.69974C>T (p.Pro23325Leu)
c.69971C>T (p.Pro23324Leu)
c.67013C>T (p.Pro22338Leu)
c.48629C>T (p.Pro16210Leu)
c.70124C>T (p.Pro23375Leu)
c.70121C>T (p.Pro23374Leu)
c.69554C>T (p.Pro23185Leu)
c.66896C>T (p.Pro22299Leu)
c.66815C>T (p.Pro22272Leu)
c.48578C>T (p.Pro16193Leu)
c.38432C>T (p.Pro12811Leu)
2g.178570449G>CCA349620946TTN,TTN-AS1c.67979C>G (p.Pro22660Arg)
c.49064C>G (p.Pro16355Arg)
c.48863C>G (p.Pro16288Arg)
c.48488C>G (p.Pro16163Arg)
c.75683C>G (p.Pro25228Arg)
c.70760C>G (p.Pro23587Arg)
n.447-851G>C
n.2044-12123G>C
c.74780C>G (p.Pro24927Arg)
c.48674C>G (p.Pro16225Arg)
c.48533C>G (p.Pro16178Arg)
c.74576C>G (p.Pro24859Arg)
c.69974C>G (p.Pro23325Arg)
c.69971C>G (p.Pro23324Arg)
c.67013C>G (p.Pro22338Arg)
c.48629C>G (p.Pro16210Arg)
c.70124C>G (p.Pro23375Arg)
c.70121C>G (p.Pro23374Arg)
c.69554C>G (p.Pro23185Arg)
c.66896C>G (p.Pro22299Arg)
c.66815C>G (p.Pro22272Arg)
c.48578C>G (p.Pro16193Arg)
c.38432C>G (p.Pro12811Arg)
2g.178570449G>TCA349620948TTN,TTN-AS1c.67979C>A (p.Pro22660His)
c.49064C>A (p.Pro16355His)
c.48863C>A (p.Pro16288His)
c.48488C>A (p.Pro16163His)
c.75683C>A (p.Pro25228His)
c.70760C>A (p.Pro23587His)
n.447-851G>T
n.2044-12123G>T
c.74780C>A (p.Pro24927His)
c.48674C>A (p.Pro16225His)
c.48533C>A (p.Pro16178His)
c.74576C>A (p.Pro24859His)
c.69974C>A (p.Pro23325His)
c.69971C>A (p.Pro23324His)
c.67013C>A (p.Pro22338His)
c.48629C>A (p.Pro16210His)
c.70124C>A (p.Pro23375His)
c.70121C>A (p.Pro23374His)
c.69554C>A (p.Pro23185His)
c.66896C>A (p.Pro22299His)
c.66815C>A (p.Pro22272His)
c.48578C>A (p.Pro16193His)
c.38432C>A (p.Pro12811His)
2g.178570450G>ACA310517TTN,TTN-AS1c.67978C>T (p.Pro22660Ser)
c.49063C>T (p.Pro16355Ser)
c.48862C>T (p.Pro16288Ser)
c.48487C>T (p.Pro16163Ser)
c.75682C>T (p.Pro25228Ser)
c.70759C>T (p.Pro23587Ser)
n.447-850G>A
n.2044-12122G>A
c.74779C>T (p.Pro24927Ser)
c.48673C>T (p.Pro16225Ser)
c.48532C>T (p.Pro16178Ser)
c.74575C>T (p.Pro24859Ser)
c.69973C>T (p.Pro23325Ser)
c.69970C>T (p.Pro23324Ser)
c.67012C>T (p.Pro22338Ser)
c.48628C>T (p.Pro16210Ser)
c.70123C>T (p.Pro23375Ser)
c.70120C>T (p.Pro23374Ser)
c.69553C>T (p.Pro23185Ser)
c.66895C>T (p.Pro22299Ser)
c.66814C>T (p.Pro22272Ser)
c.48577C>T (p.Pro16193Ser)
c.38431C>T (p.Pro12811Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570450G>CCA349620956TTN,TTN-AS1c.67978C>G (p.Pro22660Ala)
c.49063C>G (p.Pro16355Ala)
c.48862C>G (p.Pro16288Ala)
c.48487C>G (p.Pro16163Ala)
c.75682C>G (p.Pro25228Ala)
c.70759C>G (p.Pro23587Ala)
n.447-850G>C
n.2044-12122G>C
c.74779C>G (p.Pro24927Ala)
c.48673C>G (p.Pro16225Ala)
c.48532C>G (p.Pro16178Ala)
c.74575C>G (p.Pro24859Ala)
c.69973C>G (p.Pro23325Ala)
c.69970C>G (p.Pro23324Ala)
c.67012C>G (p.Pro22338Ala)
c.48628C>G (p.Pro16210Ala)
c.70123C>G (p.Pro23375Ala)
c.70120C>G (p.Pro23374Ala)
c.69553C>G (p.Pro23185Ala)
c.66895C>G (p.Pro22299Ala)
c.66814C>G (p.Pro22272Ala)
c.48577C>G (p.Pro16193Ala)
c.38431C>G (p.Pro12811Ala)
2g.178570450G=CA1310531113TTN,TTN-AS1c.67978C= (p.Pro22660=)
c.49063C= (p.Pro16355=)
c.48862C= (p.Pro16288=)
c.48487C= (p.Pro16163=)
c.75682C= (p.Pro25228=)
c.70759C= (p.Pro23587=)
n.447-850G=
n.2044-12122G=
c.74779C= (p.Pro24927=)
c.48673C= (p.Pro16225=)
c.48532C= (p.Pro16178=)
c.74575C= (p.Pro24859=)
c.69973C= (p.Pro23325=)
c.69970C= (p.Pro23324=)
c.67012C= (p.Pro22338=)
c.48628C= (p.Pro16210=)
c.70123C= (p.Pro23375=)
c.70120C= (p.Pro23374=)
c.69553C= (p.Pro23185=)
c.66895C= (p.Pro22299=)
c.66814C= (p.Pro22272=)
c.48577C= (p.Pro16193=)
c.38431C= (p.Pro12811=)
2g.178570450G>TCA349620961TTN,TTN-AS1c.67978C>A (p.Pro22660Thr)
c.49063C>A (p.Pro16355Thr)
c.48862C>A (p.Pro16288Thr)
c.48487C>A (p.Pro16163Thr)
c.75682C>A (p.Pro25228Thr)
c.70759C>A (p.Pro23587Thr)
n.447-850G>T
n.2044-12122G>T
c.74779C>A (p.Pro24927Thr)
c.48673C>A (p.Pro16225Thr)
c.48532C>A (p.Pro16178Thr)
c.74575C>A (p.Pro24859Thr)
c.69973C>A (p.Pro23325Thr)
c.69970C>A (p.Pro23324Thr)
c.67012C>A (p.Pro22338Thr)
c.48628C>A (p.Pro16210Thr)
c.70123C>A (p.Pro23375Thr)
c.70120C>A (p.Pro23374Thr)
c.69553C>A (p.Pro23185Thr)
c.66895C>A (p.Pro22299Thr)
c.66814C>A (p.Pro22272Thr)
c.48577C>A (p.Pro16193Thr)
c.38431C>A (p.Pro12811Thr)
2g.178570451T>ACA349620970TTN,TTN-AS1c.67977A>T (p.Lys22659Asn)
c.49062A>T (p.Lys16354Asn)
c.48861A>T (p.Lys16287Asn)
c.48486A>T (p.Lys16162Asn)
c.75681A>T (p.Lys25227Asn)
c.70758A>T (p.Lys23586Asn)
n.447-849T>A
n.2044-12121T>A
c.74778A>T (p.Lys24926Asn)
c.48672A>T (p.Lys16224Asn)
c.48531A>T (p.Lys16177Asn)
c.74574A>T (p.Lys24858Asn)
c.69972A>T (p.Lys23324Asn)
c.69969A>T (p.Lys23323Asn)
c.67011A>T (p.Lys22337Asn)
c.48627A>T (p.Lys16209Asn)
c.70122A>T (p.Lys23374Asn)
c.70119A>T (p.Lys23373Asn)
c.69552A>T (p.Lys23184Asn)
c.66894A>T (p.Lys22298Asn)
c.66813A>T (p.Lys22271Asn)
c.48576A>T (p.Lys16192Asn)
c.38430A>T (p.Lys12810Asn)
2g.178570451T>CCA430254772TTN,TTN-AS1c.67977A>G (p.Lys22659=)
c.49062A>G (p.Lys16354=)
c.48861A>G (p.Lys16287=)
c.48486A>G (p.Lys16162=)
c.75681A>G (p.Lys25227=)
c.70758A>G (p.Lys23586=)
n.447-849T>C
n.2044-12121T>C
c.74778A>G (p.Lys24926=)
c.48672A>G (p.Lys16224=)
c.48531A>G (p.Lys16177=)
c.74574A>G (p.Lys24858=)
c.69972A>G (p.Lys23324=)
c.69969A>G (p.Lys23323=)
c.67011A>G (p.Lys22337=)
c.48627A>G (p.Lys16209=)
c.70122A>G (p.Lys23374=)
c.70119A>G (p.Lys23373=)
c.69552A>G (p.Lys23184=)
c.66894A>G (p.Lys22298=)
c.66813A>G (p.Lys22271=)
c.48576A>G (p.Lys16192=)
c.38430A>G (p.Lys12810=)
2g.178570451T>GCA349620973TTN,TTN-AS1c.67977A>C (p.Lys22659Asn)
c.49062A>C (p.Lys16354Asn)
c.48861A>C (p.Lys16287Asn)
c.48486A>C (p.Lys16162Asn)
c.75681A>C (p.Lys25227Asn)
c.70758A>C (p.Lys23586Asn)
n.447-849T>G
n.2044-12121T>G
c.74778A>C (p.Lys24926Asn)
c.48672A>C (p.Lys16224Asn)
c.48531A>C (p.Lys16177Asn)
c.74574A>C (p.Lys24858Asn)
c.69972A>C (p.Lys23324Asn)
c.69969A>C (p.Lys23323Asn)
c.67011A>C (p.Lys22337Asn)
c.48627A>C (p.Lys16209Asn)
c.70122A>C (p.Lys23374Asn)
c.70119A>C (p.Lys23373Asn)
c.69552A>C (p.Lys23184Asn)
c.66894A>C (p.Lys22298Asn)
c.66813A>C (p.Lys22271Asn)
c.48576A>C (p.Lys16192Asn)
c.38430A>C (p.Lys12810Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178570452T>ACA349620999TTN,TTN-AS1c.67976A>T (p.Lys22659Ile)
c.49061A>T (p.Lys16354Ile)
c.48860A>T (p.Lys16287Ile)
c.48485A>T (p.Lys16162Ile)
c.75680A>T (p.Lys25227Ile)
c.70757A>T (p.Lys23586Ile)
n.447-848T>A
n.2044-12120T>A
c.74777A>T (p.Lys24926Ile)
c.48671A>T (p.Lys16224Ile)
c.48530A>T (p.Lys16177Ile)
c.74573A>T (p.Lys24858Ile)
c.69971A>T (p.Lys23324Ile)
c.69968A>T (p.Lys23323Ile)
c.67010A>T (p.Lys22337Ile)
c.48626A>T (p.Lys16209Ile)
c.70121A>T (p.Lys23374Ile)
c.70118A>T (p.Lys23373Ile)
c.69551A>T (p.Lys23184Ile)
c.66893A>T (p.Lys22298Ile)
c.66812A>T (p.Lys22271Ile)
c.48575A>T (p.Lys16192Ile)
c.38429A>T (p.Lys12810Ile)
2g.178570452T>CCA349621001TTN,TTN-AS1c.67976A>G (p.Lys22659Arg)
c.49061A>G (p.Lys16354Arg)
c.48860A>G (p.Lys16287Arg)
c.48485A>G (p.Lys16162Arg)
c.75680A>G (p.Lys25227Arg)
c.70757A>G (p.Lys23586Arg)
n.447-848T>C
n.2044-12120T>C
c.74777A>G (p.Lys24926Arg)
c.48671A>G (p.Lys16224Arg)
c.48530A>G (p.Lys16177Arg)
c.74573A>G (p.Lys24858Arg)
c.69971A>G (p.Lys23324Arg)
c.69968A>G (p.Lys23323Arg)
c.67010A>G (p.Lys22337Arg)
c.48626A>G (p.Lys16209Arg)
c.70121A>G (p.Lys23374Arg)
c.70118A>G (p.Lys23373Arg)
c.69551A>G (p.Lys23184Arg)
c.66893A>G (p.Lys22298Arg)
c.66812A>G (p.Lys22271Arg)
c.48575A>G (p.Lys16192Arg)
c.38429A>G (p.Lys12810Arg)
2g.178570452T>GCA349620989TTN,TTN-AS1c.67976A>C (p.Lys22659Thr)
c.49061A>C (p.Lys16354Thr)
c.48860A>C (p.Lys16287Thr)
c.48485A>C (p.Lys16162Thr)
c.75680A>C (p.Lys25227Thr)
c.70757A>C (p.Lys23586Thr)
n.447-848T>G
n.2044-12120T>G
c.74777A>C (p.Lys24926Thr)
c.48671A>C (p.Lys16224Thr)
c.48530A>C (p.Lys16177Thr)
c.74573A>C (p.Lys24858Thr)
c.69971A>C (p.Lys23324Thr)
c.69968A>C (p.Lys23323Thr)
c.67010A>C (p.Lys22337Thr)
c.48626A>C (p.Lys16209Thr)
c.70121A>C (p.Lys23374Thr)
c.70118A>C (p.Lys23373Thr)
c.69551A>C (p.Lys23184Thr)
c.66893A>C (p.Lys22298Thr)
c.66812A>C (p.Lys22271Thr)
c.48575A>C (p.Lys16192Thr)
c.38429A>C (p.Lys12810Thr)
2g.178570453T>ACA349621008TTN,TTN-AS1c.67975A>T (p.Lys22659Ter)
c.49060A>T (p.Lys16354Ter)
c.48859A>T (p.Lys16287Ter)
c.48484A>T (p.Lys16162Ter)
c.75679A>T (p.Lys25227Ter)
c.70756A>T (p.Lys23586Ter)
n.447-847T>A
n.2044-12119T>A
c.74776A>T (p.Lys24926Ter)
c.48670A>T (p.Lys16224Ter)
c.48529A>T (p.Lys16177Ter)
c.74572A>T (p.Lys24858Ter)
c.69970A>T (p.Lys23324Ter)
c.69967A>T (p.Lys23323Ter)
c.67009A>T (p.Lys22337Ter)
c.48625A>T (p.Lys16209Ter)
c.70120A>T (p.Lys23374Ter)
c.70117A>T (p.Lys23373Ter)
c.69550A>T (p.Lys23184Ter)
c.66892A>T (p.Lys22298Ter)
c.66811A>T (p.Lys22271Ter)
c.48574A>T (p.Lys16192Ter)
c.38428A>T (p.Lys12810Ter)
2g.178570453T>CCA349621011TTN,TTN-AS1c.67975A>G (p.Lys22659Glu)
c.49060A>G (p.Lys16354Glu)
c.48859A>G (p.Lys16287Glu)
c.48484A>G (p.Lys16162Glu)
c.75679A>G (p.Lys25227Glu)
c.70756A>G (p.Lys23586Glu)
n.447-847T>C
n.2044-12119T>C
c.74776A>G (p.Lys24926Glu)
c.48670A>G (p.Lys16224Glu)
c.48529A>G (p.Lys16177Glu)
c.74572A>G (p.Lys24858Glu)
c.69970A>G (p.Lys23324Glu)
c.69967A>G (p.Lys23323Glu)
c.67009A>G (p.Lys22337Glu)
c.48625A>G (p.Lys16209Glu)
c.70120A>G (p.Lys23374Glu)
c.70117A>G (p.Lys23373Glu)
c.69550A>G (p.Lys23184Glu)
c.66892A>G (p.Lys22298Glu)
c.66811A>G (p.Lys22271Glu)
c.48574A>G (p.Lys16192Glu)
c.38428A>G (p.Lys12810Glu)
2g.178570453T>GCA349621014TTN,TTN-AS1c.67975A>C (p.Lys22659Gln)
c.49060A>C (p.Lys16354Gln)
c.48859A>C (p.Lys16287Gln)
c.48484A>C (p.Lys16162Gln)
c.75679A>C (p.Lys25227Gln)
c.70756A>C (p.Lys23586Gln)
n.447-847T>G
n.2044-12119T>G
c.74776A>C (p.Lys24926Gln)
c.48670A>C (p.Lys16224Gln)
c.48529A>C (p.Lys16177Gln)
c.74572A>C (p.Lys24858Gln)
c.69970A>C (p.Lys23324Gln)
c.69967A>C (p.Lys23323Gln)
c.67009A>C (p.Lys22337Gln)
c.48625A>C (p.Lys16209Gln)
c.70120A>C (p.Lys23374Gln)
c.70117A>C (p.Lys23373Gln)
c.69550A>C (p.Lys23184Gln)
c.66892A>C (p.Lys22298Gln)
c.66811A>C (p.Lys22271Gln)
c.48574A>C (p.Lys16192Gln)
c.38428A>C (p.Lys12810Gln)
2g.178570454C>ACA349621020TTN,TTN-AS1c.67974G>T (p.Trp22658Cys)
c.49059G>T (p.Trp16353Cys)
c.48858G>T (p.Trp16286Cys)
c.48483G>T (p.Trp16161Cys)
c.75678G>T (p.Trp25226Cys)
c.70755G>T (p.Trp23585Cys)
n.447-846C>A
n.2044-12118C>A
c.74775G>T (p.Trp24925Cys)
c.48669G>T (p.Trp16223Cys)
c.48528G>T (p.Trp16176Cys)
c.74571G>T (p.Trp24857Cys)
c.69969G>T (p.Trp23323Cys)
c.69966G>T (p.Trp23322Cys)
c.67008G>T (p.Trp22336Cys)
c.48624G>T (p.Trp16208Cys)
c.70119G>T (p.Trp23373Cys)
c.70116G>T (p.Trp23372Cys)
c.69549G>T (p.Trp23183Cys)
c.66891G>T (p.Trp22297Cys)
c.66810G>T (p.Trp22270Cys)
c.48573G>T (p.Trp16191Cys)
c.38427G>T (p.Trp12809Cys)
2g.178570454C>GCA349621024TTN,TTN-AS1c.67974G>C (p.Trp22658Cys)
c.49059G>C (p.Trp16353Cys)
c.48858G>C (p.Trp16286Cys)
c.48483G>C (p.Trp16161Cys)
c.75678G>C (p.Trp25226Cys)
c.70755G>C (p.Trp23585Cys)
n.447-846C>G
n.2044-12118C>G
c.74775G>C (p.Trp24925Cys)
c.48669G>C (p.Trp16223Cys)
c.48528G>C (p.Trp16176Cys)
c.74571G>C (p.Trp24857Cys)
c.69969G>C (p.Trp23323Cys)
c.69966G>C (p.Trp23322Cys)
c.67008G>C (p.Trp22336Cys)
c.48624G>C (p.Trp16208Cys)
c.70119G>C (p.Trp23373Cys)
c.70116G>C (p.Trp23372Cys)
c.69549G>C (p.Trp23183Cys)
c.66891G>C (p.Trp22297Cys)
c.66810G>C (p.Trp22270Cys)
c.48573G>C (p.Trp16191Cys)
c.38427G>C (p.Trp12809Cys)
2g.178570454C>TCA349621028TTN,TTN-AS1c.67974G>A (p.Trp22658Ter)
c.49059G>A (p.Trp16353Ter)
c.48858G>A (p.Trp16286Ter)
c.48483G>A (p.Trp16161Ter)
c.75678G>A (p.Trp25226Ter)
c.70755G>A (p.Trp23585Ter)
n.447-846C>T
n.2044-12118C>T
c.74775G>A (p.Trp24925Ter)
c.48669G>A (p.Trp16223Ter)
c.48528G>A (p.Trp16176Ter)
c.74571G>A (p.Trp24857Ter)
c.69969G>A (p.Trp23323Ter)
c.69966G>A (p.Trp23322Ter)
c.67008G>A (p.Trp22336Ter)
c.48624G>A (p.Trp16208Ter)
c.70119G>A (p.Trp23373Ter)
c.70116G>A (p.Trp23372Ter)
c.69549G>A (p.Trp23183Ter)
c.66891G>A (p.Trp22297Ter)
c.66810G>A (p.Trp22270Ter)
c.48573G>A (p.Trp16191Ter)
c.38427G>A (p.Trp12809Ter)
2g.178570455C>ACA349621031TTN,TTN-AS1c.67973G>T (p.Trp22658Leu)
c.49058G>T (p.Trp16353Leu)
c.48857G>T (p.Trp16286Leu)
c.48482G>T (p.Trp16161Leu)
c.75677G>T (p.Trp25226Leu)
c.70754G>T (p.Trp23585Leu)
n.447-845C>A
n.2044-12117C>A
c.74774G>T (p.Trp24925Leu)
c.48668G>T (p.Trp16223Leu)
c.48527G>T (p.Trp16176Leu)
c.74570G>T (p.Trp24857Leu)
c.69968G>T (p.Trp23323Leu)
c.69965G>T (p.Trp23322Leu)
c.67007G>T (p.Trp22336Leu)
c.48623G>T (p.Trp16208Leu)
c.70118G>T (p.Trp23373Leu)
c.70115G>T (p.Trp23372Leu)
c.69548G>T (p.Trp23183Leu)
c.66890G>T (p.Trp22297Leu)
c.66809G>T (p.Trp22270Leu)
c.48572G>T (p.Trp16191Leu)
c.38426G>T (p.Trp12809Leu)
 COSMIC COSMIC COSMIC
2g.178570455C>GCA349621033TTN,TTN-AS1c.67973G>C (p.Trp22658Ser)
c.49058G>C (p.Trp16353Ser)
c.48857G>C (p.Trp16286Ser)
c.48482G>C (p.Trp16161Ser)
c.75677G>C (p.Trp25226Ser)
c.70754G>C (p.Trp23585Ser)
n.447-845C>G
n.2044-12117C>G
c.74774G>C (p.Trp24925Ser)
c.48668G>C (p.Trp16223Ser)
c.48527G>C (p.Trp16176Ser)
c.74570G>C (p.Trp24857Ser)
c.69968G>C (p.Trp23323Ser)
c.69965G>C (p.Trp23322Ser)
c.67007G>C (p.Trp22336Ser)
c.48623G>C (p.Trp16208Ser)
c.70118G>C (p.Trp23373Ser)
c.70115G>C (p.Trp23372Ser)
c.69548G>C (p.Trp23183Ser)
c.66890G>C (p.Trp22297Ser)
c.66809G>C (p.Trp22270Ser)
c.48572G>C (p.Trp16191Ser)
c.38426G>C (p.Trp12809Ser)
2g.178570455C>TCA349621034TTN,TTN-AS1c.67973G>A (p.Trp22658Ter)
c.49058G>A (p.Trp16353Ter)
c.48857G>A (p.Trp16286Ter)
c.48482G>A (p.Trp16161Ter)
c.75677G>A (p.Trp25226Ter)
c.70754G>A (p.Trp23585Ter)
n.447-845C>T
n.2044-12117C>T
c.74774G>A (p.Trp24925Ter)
c.48668G>A (p.Trp16223Ter)
c.48527G>A (p.Trp16176Ter)
c.74570G>A (p.Trp24857Ter)
c.69968G>A (p.Trp23323Ter)
c.69965G>A (p.Trp23322Ter)
c.67007G>A (p.Trp22336Ter)
c.48623G>A (p.Trp16208Ter)
c.70118G>A (p.Trp23373Ter)
c.70115G>A (p.Trp23372Ter)
c.69548G>A (p.Trp23183Ter)
c.66890G>A (p.Trp22297Ter)
c.66809G>A (p.Trp22270Ter)
c.48572G>A (p.Trp16191Ter)
c.38426G>A (p.Trp12809Ter)
2g.178570456A>CCA349621038TTN,TTN-AS1c.67972T>G (p.Trp22658Gly)
c.49057T>G (p.Trp16353Gly)
c.48856T>G (p.Trp16286Gly)
c.48481T>G (p.Trp16161Gly)
c.75676T>G (p.Trp25226Gly)
c.70753T>G (p.Trp23585Gly)
n.447-844A>C
n.2044-12116A>C
c.74773T>G (p.Trp24925Gly)
c.48667T>G (p.Trp16223Gly)
c.48526T>G (p.Trp16176Gly)
c.74569T>G (p.Trp24857Gly)
c.69967T>G (p.Trp23323Gly)
c.69964T>G (p.Trp23322Gly)
c.67006T>G (p.Trp22336Gly)
c.48622T>G (p.Trp16208Gly)
c.70117T>G (p.Trp23373Gly)
c.70114T>G (p.Trp23372Gly)
c.69547T>G (p.Trp23183Gly)
c.66889T>G (p.Trp22297Gly)
c.66808T>G (p.Trp22270Gly)
c.48571T>G (p.Trp16191Gly)
c.38425T>G (p.Trp12809Gly)
2g.178570456A>GCA349621040TTN,TTN-AS1c.67972T>C (p.Trp22658Arg)
c.49057T>C (p.Trp16353Arg)
c.48856T>C (p.Trp16286Arg)
c.48481T>C (p.Trp16161Arg)
c.75676T>C (p.Trp25226Arg)
c.70753T>C (p.Trp23585Arg)
n.447-844A>G
n.2044-12116A>G
c.74773T>C (p.Trp24925Arg)
c.48667T>C (p.Trp16223Arg)
c.48526T>C (p.Trp16176Arg)
c.74569T>C (p.Trp24857Arg)
c.69967T>C (p.Trp23323Arg)
c.69964T>C (p.Trp23322Arg)
c.67006T>C (p.Trp22336Arg)
c.48622T>C (p.Trp16208Arg)
c.70117T>C (p.Trp23373Arg)
c.70114T>C (p.Trp23372Arg)
c.69547T>C (p.Trp23183Arg)
c.66889T>C (p.Trp22297Arg)
c.66808T>C (p.Trp22270Arg)
c.48571T>C (p.Trp16191Arg)
c.38425T>C (p.Trp12809Arg)
2g.178570456A>TCA349621042TTN,TTN-AS1c.67972T>A (p.Trp22658Arg)
c.49057T>A (p.Trp16353Arg)
c.48856T>A (p.Trp16286Arg)
c.48481T>A (p.Trp16161Arg)
c.75676T>A (p.Trp25226Arg)
c.70753T>A (p.Trp23585Arg)
n.447-844A>T
n.2044-12116A>T
c.74773T>A (p.Trp24925Arg)
c.48667T>A (p.Trp16223Arg)
c.48526T>A (p.Trp16176Arg)
c.74569T>A (p.Trp24857Arg)
c.69967T>A (p.Trp23323Arg)
c.69964T>A (p.Trp23322Arg)
c.67006T>A (p.Trp22336Arg)
c.48622T>A (p.Trp16208Arg)
c.70117T>A (p.Trp23373Arg)
c.70114T>A (p.Trp23372Arg)
c.69547T>A (p.Trp23183Arg)
c.66889T>A (p.Trp22297Arg)
c.66808T>A (p.Trp22270Arg)
c.48571T>A (p.Trp16191Arg)
c.38425T>A (p.Trp12809Arg)
2g.178570457A>CCA430254776TTN,TTN-AS1c.67971T>G (p.Ala22657=)
c.49056T>G (p.Ala16352=)
c.48855T>G (p.Ala16285=)
c.48480T>G (p.Ala16160=)
c.75675T>G (p.Ala25225=)
c.70752T>G (p.Ala23584=)
n.447-843A>C
n.2044-12115A>C
c.74772T>G (p.Ala24924=)
c.48666T>G (p.Ala16222=)
c.48525T>G (p.Ala16175=)
c.74568T>G (p.Ala24856=)
c.69966T>G (p.Ala23322=)
c.69963T>G (p.Ala23321=)
c.67005T>G (p.Ala22335=)
c.48621T>G (p.Ala16207=)
c.70116T>G (p.Ala23372=)
c.70113T>G (p.Ala23371=)
c.69546T>G (p.Ala23182=)
c.66888T>G (p.Ala22296=)
c.66807T>G (p.Ala22269=)
c.48570T>G (p.Ala16190=)
c.38424T>G (p.Ala12808=)
2g.178570457A>GCA430254778TTN,TTN-AS1c.67971T>C (p.Ala22657=)
c.49056T>C (p.Ala16352=)
c.48855T>C (p.Ala16285=)
c.48480T>C (p.Ala16160=)
c.75675T>C (p.Ala25225=)
c.70752T>C (p.Ala23584=)
n.447-843A>G
n.2044-12115A>G
c.74772T>C (p.Ala24924=)
c.48666T>C (p.Ala16222=)
c.48525T>C (p.Ala16175=)
c.74568T>C (p.Ala24856=)
c.69966T>C (p.Ala23322=)
c.69963T>C (p.Ala23321=)
c.67005T>C (p.Ala22335=)
c.48621T>C (p.Ala16207=)
c.70116T>C (p.Ala23372=)
c.70113T>C (p.Ala23371=)
c.69546T>C (p.Ala23182=)
c.66888T>C (p.Ala22296=)
c.66807T>C (p.Ala22269=)
c.48570T>C (p.Ala16190=)
c.38424T>C (p.Ala12808=)
2g.178570457A>TCA430254777TTN,TTN-AS1c.67971T>A (p.Ala22657=)
c.49056T>A (p.Ala16352=)
c.48855T>A (p.Ala16285=)
c.48480T>A (p.Ala16160=)
c.75675T>A (p.Ala25225=)
c.70752T>A (p.Ala23584=)
n.447-843A>T
n.2044-12115A>T
c.74772T>A (p.Ala24924=)
c.48666T>A (p.Ala16222=)
c.48525T>A (p.Ala16175=)
c.74568T>A (p.Ala24856=)
c.69966T>A (p.Ala23322=)
c.69963T>A (p.Ala23321=)
c.67005T>A (p.Ala22335=)
c.48621T>A (p.Ala16207=)
c.70116T>A (p.Ala23372=)
c.70113T>A (p.Ala23371=)
c.69546T>A (p.Ala23182=)
c.66888T>A (p.Ala22296=)
c.66807T>A (p.Ala22269=)
c.48570T>A (p.Ala16190=)
c.38424T>A (p.Ala12808=)
2g.178570458G>ACA349621046TTN,TTN-AS1c.67970C>T (p.Ala22657Val)
c.49055C>T (p.Ala16352Val)
c.48854C>T (p.Ala16285Val)
c.48479C>T (p.Ala16160Val)
c.75674C>T (p.Ala25225Val)
c.70751C>T (p.Ala23584Val)
n.447-842G>A
n.2044-12114G>A
c.74771C>T (p.Ala24924Val)
c.48665C>T (p.Ala16222Val)
c.48524C>T (p.Ala16175Val)
c.74567C>T (p.Ala24856Val)
c.69965C>T (p.Ala23322Val)
c.69962C>T (p.Ala23321Val)
c.67004C>T (p.Ala22335Val)
c.48620C>T (p.Ala16207Val)
c.70115C>T (p.Ala23372Val)
c.70112C>T (p.Ala23371Val)
c.69545C>T (p.Ala23182Val)
c.66887C>T (p.Ala22296Val)
c.66806C>T (p.Ala22269Val)
c.48569C>T (p.Ala16190Val)
c.38423C>T (p.Ala12808Val)
 gnomAD v4
2g.178570458G>CCA349621048TTN,TTN-AS1c.67970C>G (p.Ala22657Gly)
c.49055C>G (p.Ala16352Gly)
c.48854C>G (p.Ala16285Gly)
c.48479C>G (p.Ala16160Gly)
c.75674C>G (p.Ala25225Gly)
c.70751C>G (p.Ala23584Gly)
n.447-842G>C
n.2044-12114G>C
c.74771C>G (p.Ala24924Gly)
c.48665C>G (p.Ala16222Gly)
c.48524C>G (p.Ala16175Gly)
c.74567C>G (p.Ala24856Gly)
c.69965C>G (p.Ala23322Gly)
c.69962C>G (p.Ala23321Gly)
c.67004C>G (p.Ala22335Gly)
c.48620C>G (p.Ala16207Gly)
c.70115C>G (p.Ala23372Gly)
c.70112C>G (p.Ala23371Gly)
c.69545C>G (p.Ala23182Gly)
c.66887C>G (p.Ala22296Gly)
c.66806C>G (p.Ala22269Gly)
c.48569C>G (p.Ala16190Gly)
c.38423C>G (p.Ala12808Gly)
2g.178570458G>TCA349621045TTN,TTN-AS1c.67970C>A (p.Ala22657Asp)
c.49055C>A (p.Ala16352Asp)
c.48854C>A (p.Ala16285Asp)
c.48479C>A (p.Ala16160Asp)
c.75674C>A (p.Ala25225Asp)
c.70751C>A (p.Ala23584Asp)
n.447-842G>T
n.2044-12114G>T
c.74771C>A (p.Ala24924Asp)
c.48665C>A (p.Ala16222Asp)
c.48524C>A (p.Ala16175Asp)
c.74567C>A (p.Ala24856Asp)
c.69965C>A (p.Ala23322Asp)
c.69962C>A (p.Ala23321Asp)
c.67004C>A (p.Ala22335Asp)
c.48620C>A (p.Ala16207Asp)
c.70115C>A (p.Ala23372Asp)
c.70112C>A (p.Ala23371Asp)
c.69545C>A (p.Ala23182Asp)
c.66887C>A (p.Ala22296Asp)
c.66806C>A (p.Ala22269Asp)
c.48569C>A (p.Ala16190Asp)
c.38423C>A (p.Ala12808Asp)
2g.178570459C>ACA349621053TTN,TTN-AS1c.67969G>T (p.Ala22657Ser)
c.49054G>T (p.Ala16352Ser)
c.48853G>T (p.Ala16285Ser)
c.48478G>T (p.Ala16160Ser)
c.75673G>T (p.Ala25225Ser)
c.70750G>T (p.Ala23584Ser)
n.447-841C>A
n.2044-12113C>A
c.74770G>T (p.Ala24924Ser)
c.48664G>T (p.Ala16222Ser)
c.48523G>T (p.Ala16175Ser)
c.74566G>T (p.Ala24856Ser)
c.69964G>T (p.Ala23322Ser)
c.69961G>T (p.Ala23321Ser)
c.67003G>T (p.Ala22335Ser)
c.48619G>T (p.Ala16207Ser)
c.70114G>T (p.Ala23372Ser)
c.70111G>T (p.Ala23371Ser)
c.69544G>T (p.Ala23182Ser)
c.66886G>T (p.Ala22296Ser)
c.66805G>T (p.Ala22269Ser)
c.48568G>T (p.Ala16190Ser)
c.38422G>T (p.Ala12808Ser)
2g.178570459C>GCA349621058TTN,TTN-AS1c.67969G>C (p.Ala22657Pro)
c.49054G>C (p.Ala16352Pro)
c.48853G>C (p.Ala16285Pro)
c.48478G>C (p.Ala16160Pro)
c.75673G>C (p.Ala25225Pro)
c.70750G>C (p.Ala23584Pro)
n.447-841C>G
n.2044-12113C>G
c.74770G>C (p.Ala24924Pro)
c.48664G>C (p.Ala16222Pro)
c.48523G>C (p.Ala16175Pro)
c.74566G>C (p.Ala24856Pro)
c.69964G>C (p.Ala23322Pro)
c.69961G>C (p.Ala23321Pro)
c.67003G>C (p.Ala22335Pro)
c.48619G>C (p.Ala16207Pro)
c.70114G>C (p.Ala23372Pro)
c.70111G>C (p.Ala23371Pro)
c.69544G>C (p.Ala23182Pro)
c.66886G>C (p.Ala22296Pro)
c.66805G>C (p.Ala22269Pro)
c.48568G>C (p.Ala16190Pro)
c.38422G>C (p.Ala12808Pro)
2g.178570459C>TCA349621059TTN,TTN-AS1c.67969G>A (p.Ala22657Thr)
c.49054G>A (p.Ala16352Thr)
c.48853G>A (p.Ala16285Thr)
c.48478G>A (p.Ala16160Thr)
c.75673G>A (p.Ala25225Thr)
c.70750G>A (p.Ala23584Thr)
n.447-841C>T
n.2044-12113C>T
c.74770G>A (p.Ala24924Thr)
c.48664G>A (p.Ala16222Thr)
c.48523G>A (p.Ala16175Thr)
c.74566G>A (p.Ala24856Thr)
c.69964G>A (p.Ala23322Thr)
c.69961G>A (p.Ala23321Thr)
c.67003G>A (p.Ala22335Thr)
c.48619G>A (p.Ala16207Thr)
c.70114G>A (p.Ala23372Thr)
c.70111G>A (p.Ala23371Thr)
c.69544G>A (p.Ala23182Thr)
c.66886G>A (p.Ala22296Thr)
c.66805G>A (p.Ala22269Thr)
c.48568G>A (p.Ala16190Thr)
c.38422G>A (p.Ala12808Thr)
2g.178570460T>ACA430254779TTN,TTN-AS1c.67968A>T (p.Leu22656=)
c.49053A>T (p.Leu16351=)
c.48852A>T (p.Leu16284=)
c.48477A>T (p.Leu16159=)
c.75672A>T (p.Leu25224=)
c.70749A>T (p.Leu23583=)
n.447-840T>A
n.2044-12112T>A
c.74769A>T (p.Leu24923=)
c.48663A>T (p.Leu16221=)
c.48522A>T (p.Leu16174=)
c.74565A>T (p.Leu24855=)
c.69963A>T (p.Leu23321=)
c.69960A>T (p.Leu23320=)
c.67002A>T (p.Leu22334=)
c.48618A>T (p.Leu16206=)
c.70113A>T (p.Leu23371=)
c.70110A>T (p.Leu23370=)
c.69543A>T (p.Leu23181=)
c.66885A>T (p.Leu22295=)
c.66804A>T (p.Leu22268=)
c.48567A>T (p.Leu16189=)
c.38421A>T (p.Leu12807=)
2g.178570460T>CCA430254780TTN,TTN-AS1c.67968A>G (p.Leu22656=)
c.49053A>G (p.Leu16351=)
c.48852A>G (p.Leu16284=)
c.48477A>G (p.Leu16159=)
c.75672A>G (p.Leu25224=)
c.70749A>G (p.Leu23583=)
n.447-840T>C
n.2044-12112T>C
c.74769A>G (p.Leu24923=)
c.48663A>G (p.Leu16221=)
c.48522A>G (p.Leu16174=)
c.74565A>G (p.Leu24855=)
c.69963A>G (p.Leu23321=)
c.69960A>G (p.Leu23320=)
c.67002A>G (p.Leu22334=)
c.48618A>G (p.Leu16206=)
c.70113A>G (p.Leu23371=)
c.70110A>G (p.Leu23370=)
c.69543A>G (p.Leu23181=)
c.66885A>G (p.Leu22295=)
c.66804A>G (p.Leu22268=)
c.48567A>G (p.Leu16189=)
c.38421A>G (p.Leu12807=)
2g.178570460T>GCA430254781TTN,TTN-AS1c.67968A>C (p.Leu22656=)
c.49053A>C (p.Leu16351=)
c.48852A>C (p.Leu16284=)
c.48477A>C (p.Leu16159=)
c.75672A>C (p.Leu25224=)
c.70749A>C (p.Leu23583=)
n.447-840T>G
n.2044-12112T>G
c.74769A>C (p.Leu24923=)
c.48663A>C (p.Leu16221=)
c.48522A>C (p.Leu16174=)
c.74565A>C (p.Leu24855=)
c.69963A>C (p.Leu23321=)
c.69960A>C (p.Leu23320=)
c.67002A>C (p.Leu22334=)
c.48618A>C (p.Leu16206=)
c.70113A>C (p.Leu23371=)
c.70110A>C (p.Leu23370=)
c.69543A>C (p.Leu23181=)
c.66885A>C (p.Leu22295=)
c.66804A>C (p.Leu22268=)
c.48567A>C (p.Leu16189=)
c.38421A>C (p.Leu12807=)
2g.178570461A>CCA349621066TTN,TTN-AS1c.67967T>G (p.Leu22656Arg)
c.49052T>G (p.Leu16351Arg)
c.48851T>G (p.Leu16284Arg)
c.48476T>G (p.Leu16159Arg)
c.75671T>G (p.Leu25224Arg)
c.70748T>G (p.Leu23583Arg)
n.447-839A>C
n.2044-12111A>C
c.74768T>G (p.Leu24923Arg)
c.48662T>G (p.Leu16221Arg)
c.48521T>G (p.Leu16174Arg)
c.74564T>G (p.Leu24855Arg)
c.69962T>G (p.Leu23321Arg)
c.69959T>G (p.Leu23320Arg)
c.67001T>G (p.Leu22334Arg)
c.48617T>G (p.Leu16206Arg)
c.70112T>G (p.Leu23371Arg)
c.70109T>G (p.Leu23370Arg)
c.69542T>G (p.Leu23181Arg)
c.66884T>G (p.Leu22295Arg)
c.66803T>G (p.Leu22268Arg)
c.48566T>G (p.Leu16189Arg)
c.38420T>G (p.Leu12807Arg)
2g.178570461A>GCA349621070TTN,TTN-AS1c.67967T>C (p.Leu22656Pro)
c.49052T>C (p.Leu16351Pro)
c.48851T>C (p.Leu16284Pro)
c.48476T>C (p.Leu16159Pro)
c.75671T>C (p.Leu25224Pro)
c.70748T>C (p.Leu23583Pro)
n.447-839A>G
n.2044-12111A>G
c.74768T>C (p.Leu24923Pro)
c.48662T>C (p.Leu16221Pro)
c.48521T>C (p.Leu16174Pro)
c.74564T>C (p.Leu24855Pro)
c.69962T>C (p.Leu23321Pro)
c.69959T>C (p.Leu23320Pro)
c.67001T>C (p.Leu22334Pro)
c.48617T>C (p.Leu16206Pro)
c.70112T>C (p.Leu23371Pro)
c.70109T>C (p.Leu23370Pro)
c.69542T>C (p.Leu23181Pro)
c.66884T>C (p.Leu22295Pro)
c.66803T>C (p.Leu22268Pro)
c.48566T>C (p.Leu16189Pro)
c.38420T>C (p.Leu12807Pro)
2g.178570461A>TCA349621071TTN,TTN-AS1c.67967T>A (p.Leu22656Gln)
c.49052T>A (p.Leu16351Gln)
c.48851T>A (p.Leu16284Gln)
c.48476T>A (p.Leu16159Gln)
c.75671T>A (p.Leu25224Gln)
c.70748T>A (p.Leu23583Gln)
n.447-839A>T
n.2044-12111A>T
c.74768T>A (p.Leu24923Gln)
c.48662T>A (p.Leu16221Gln)
c.48521T>A (p.Leu16174Gln)
c.74564T>A (p.Leu24855Gln)
c.69962T>A (p.Leu23321Gln)
c.69959T>A (p.Leu23320Gln)
c.67001T>A (p.Leu22334Gln)
c.48617T>A (p.Leu16206Gln)
c.70112T>A (p.Leu23371Gln)
c.70109T>A (p.Leu23370Gln)
c.69542T>A (p.Leu23181Gln)
c.66884T>A (p.Leu22295Gln)
c.66803T>A (p.Leu22268Gln)
c.48566T>A (p.Leu16189Gln)
c.38420T>A (p.Leu12807Gln)

Number of alleles fetched