Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552455C>ACA349510701TTN,TTN-AS1c.82741G>T (p.Val27581Leu)
c.63826G>T (p.Val21276Leu)
c.63625G>T (p.Val21209Leu)
c.63250G>T (p.Val21084Leu)
c.90445G>T (p.Val30149Leu)
c.85522G>T (p.Val28508Leu)
n.447-18845C>A
n.2043+10094C>A
c.89542G>T (p.Val29848Leu)
c.63436G>T (p.Val21146Leu)
c.63295G>T (p.Val21099Leu)
c.89338G>T (p.Val29780Leu)
c.84736G>T (p.Val28246Leu)
c.84733G>T (p.Val28245Leu)
c.81775G>T (p.Val27259Leu)
c.63391G>T (p.Val21131Leu)
c.84886G>T (p.Val28296Leu)
c.84883G>T (p.Val28295Leu)
c.84316G>T (p.Val28106Leu)
c.81658G>T (p.Val27220Leu)
c.81577G>T (p.Val27193Leu)
c.63340G>T (p.Val21114Leu)
c.53194G>T (p.Val17732Leu)
2g.178552455C=CA1310521966TTN,TTN-AS1c.82741G= (p.Val27581=)
c.63826G= (p.Val21276=)
c.63625G= (p.Val21209=)
c.63250G= (p.Val21084=)
c.90445G= (p.Val30149=)
c.85522G= (p.Val28508=)
n.447-18845C=
n.2043+10094C=
c.89542G= (p.Val29848=)
c.63436G= (p.Val21146=)
c.63295G= (p.Val21099=)
c.89338G= (p.Val29780=)
c.84736G= (p.Val28246=)
c.84733G= (p.Val28245=)
c.81775G= (p.Val27259=)
c.63391G= (p.Val21131=)
c.84886G= (p.Val28296=)
c.84883G= (p.Val28295=)
c.84316G= (p.Val28106=)
c.81658G= (p.Val27220=)
c.81577G= (p.Val27193=)
c.63340G= (p.Val21114=)
c.53194G= (p.Val17732=)
2g.178552455C>GCA349510702TTN,TTN-AS1c.82741G>C (p.Val27581Leu)
c.63826G>C (p.Val21276Leu)
c.63625G>C (p.Val21209Leu)
c.63250G>C (p.Val21084Leu)
c.90445G>C (p.Val30149Leu)
c.85522G>C (p.Val28508Leu)
n.447-18845C>G
n.2043+10094C>G
c.89542G>C (p.Val29848Leu)
c.63436G>C (p.Val21146Leu)
c.63295G>C (p.Val21099Leu)
c.89338G>C (p.Val29780Leu)
c.84736G>C (p.Val28246Leu)
c.84733G>C (p.Val28245Leu)
c.81775G>C (p.Val27259Leu)
c.63391G>C (p.Val21131Leu)
c.84886G>C (p.Val28296Leu)
c.84883G>C (p.Val28295Leu)
c.84316G>C (p.Val28106Leu)
c.81658G>C (p.Val27220Leu)
c.81577G>C (p.Val27193Leu)
c.63340G>C (p.Val21114Leu)
c.53194G>C (p.Val17732Leu)
2g.178552455C>TCA349510704TTN,TTN-AS1c.82741G>A (p.Val27581Met)
c.63826G>A (p.Val21276Met)
c.63625G>A (p.Val21209Met)
c.63250G>A (p.Val21084Met)
c.90445G>A (p.Val30149Met)
c.85522G>A (p.Val28508Met)
n.447-18845C>T
n.2043+10094C>T
c.89542G>A (p.Val29848Met)
c.63436G>A (p.Val21146Met)
c.63295G>A (p.Val21099Met)
c.89338G>A (p.Val29780Met)
c.84736G>A (p.Val28246Met)
c.84733G>A (p.Val28245Met)
c.81775G>A (p.Val27259Met)
c.63391G>A (p.Val21131Met)
c.84886G>A (p.Val28296Met)
c.84883G>A (p.Val28295Met)
c.84316G>A (p.Val28106Met)
c.81658G>A (p.Val27220Met)
c.81577G>A (p.Val27193Met)
c.63340G>A (p.Val21114Met)
c.53194G>A (p.Val17732Met)
 dbSNP gnomAD v4
2g.178552456A=CA1310521970TTN,TTN-AS1c.82740T= (p.Asn27580=)
c.63825T= (p.Asn21275=)
c.63624T= (p.Asn21208=)
c.63249T= (p.Asn21083=)
c.90444T= (p.Asn30148=)
c.85521T= (p.Asn28507=)
n.447-18844A=
n.2043+10095A=
c.89541T= (p.Asn29847=)
c.63435T= (p.Asn21145=)
c.63294T= (p.Asn21098=)
c.89337T= (p.Asn29779=)
c.84735T= (p.Asn28245=)
c.84732T= (p.Asn28244=)
c.81774T= (p.Asn27258=)
c.63390T= (p.Asn21130=)
c.84885T= (p.Asn28295=)
c.84882T= (p.Asn28294=)
c.84315T= (p.Asn28105=)
c.81657T= (p.Asn27219=)
c.81576T= (p.Asn27192=)
c.63339T= (p.Asn21113=)
c.53193T= (p.Asn17731=)
2g.178552456A>CCA349510706TTN,TTN-AS1c.82740T>G (p.Asn27580Lys)
c.63825T>G (p.Asn21275Lys)
c.63624T>G (p.Asn21208Lys)
c.63249T>G (p.Asn21083Lys)
c.90444T>G (p.Asn30148Lys)
c.85521T>G (p.Asn28507Lys)
n.447-18844A>C
n.2043+10095A>C
c.89541T>G (p.Asn29847Lys)
c.63435T>G (p.Asn21145Lys)
c.63294T>G (p.Asn21098Lys)
c.89337T>G (p.Asn29779Lys)
c.84735T>G (p.Asn28245Lys)
c.84732T>G (p.Asn28244Lys)
c.81774T>G (p.Asn27258Lys)
c.63390T>G (p.Asn21130Lys)
c.84885T>G (p.Asn28295Lys)
c.84882T>G (p.Asn28294Lys)
c.84315T>G (p.Asn28105Lys)
c.81657T>G (p.Asn27219Lys)
c.81576T>G (p.Asn27192Lys)
c.63339T>G (p.Asn21113Lys)
c.53193T>G (p.Asn17731Lys)
2g.178552456A>GCA430245264TTN,TTN-AS1c.82740T>C (p.Asn27580=)
c.63825T>C (p.Asn21275=)
c.63624T>C (p.Asn21208=)
c.63249T>C (p.Asn21083=)
c.90444T>C (p.Asn30148=)
c.85521T>C (p.Asn28507=)
n.447-18844A>G
n.2043+10095A>G
c.89541T>C (p.Asn29847=)
c.63435T>C (p.Asn21145=)
c.63294T>C (p.Asn21098=)
c.89337T>C (p.Asn29779=)
c.84735T>C (p.Asn28245=)
c.84732T>C (p.Asn28244=)
c.81774T>C (p.Asn27258=)
c.63390T>C (p.Asn21130=)
c.84885T>C (p.Asn28295=)
c.84882T>C (p.Asn28294=)
c.84315T>C (p.Asn28105=)
c.81657T>C (p.Asn27219=)
c.81576T>C (p.Asn27192=)
c.63339T>C (p.Asn21113=)
c.53193T>C (p.Asn17731=)
 dbSNP gnomAD v2 gnomAD v4
2g.178552456A>TCA349510705TTN,TTN-AS1c.82740T>A (p.Asn27580Lys)
c.63825T>A (p.Asn21275Lys)
c.63624T>A (p.Asn21208Lys)
c.63249T>A (p.Asn21083Lys)
c.90444T>A (p.Asn30148Lys)
c.85521T>A (p.Asn28507Lys)
n.447-18844A>T
n.2043+10095A>T
c.89541T>A (p.Asn29847Lys)
c.63435T>A (p.Asn21145Lys)
c.63294T>A (p.Asn21098Lys)
c.89337T>A (p.Asn29779Lys)
c.84735T>A (p.Asn28245Lys)
c.84732T>A (p.Asn28244Lys)
c.81774T>A (p.Asn27258Lys)
c.63390T>A (p.Asn21130Lys)
c.84885T>A (p.Asn28295Lys)
c.84882T>A (p.Asn28294Lys)
c.84315T>A (p.Asn28105Lys)
c.81657T>A (p.Asn27219Lys)
c.81576T>A (p.Asn27192Lys)
c.63339T>A (p.Asn21113Lys)
c.53193T>A (p.Asn17731Lys)
2g.178552457T>ACA349510718TTN,TTN-AS1c.82739A>T (p.Asn27580Ile)
c.63824A>T (p.Asn21275Ile)
c.63623A>T (p.Asn21208Ile)
c.63248A>T (p.Asn21083Ile)
c.90443A>T (p.Asn30148Ile)
c.85520A>T (p.Asn28507Ile)
n.447-18843T>A
n.2043+10096T>A
c.89540A>T (p.Asn29847Ile)
c.63434A>T (p.Asn21145Ile)
c.63293A>T (p.Asn21098Ile)
c.89336A>T (p.Asn29779Ile)
c.84734A>T (p.Asn28245Ile)
c.84731A>T (p.Asn28244Ile)
c.81773A>T (p.Asn27258Ile)
c.63389A>T (p.Asn21130Ile)
c.84884A>T (p.Asn28295Ile)
c.84881A>T (p.Asn28294Ile)
c.84314A>T (p.Asn28105Ile)
c.81656A>T (p.Asn27219Ile)
c.81575A>T (p.Asn27192Ile)
c.63338A>T (p.Asn21113Ile)
c.53192A>T (p.Asn17731Ile)
2g.178552457T>CCA349510734TTN,TTN-AS1c.82739A>G (p.Asn27580Ser)
c.63824A>G (p.Asn21275Ser)
c.63623A>G (p.Asn21208Ser)
c.63248A>G (p.Asn21083Ser)
c.90443A>G (p.Asn30148Ser)
c.85520A>G (p.Asn28507Ser)
n.447-18843T>C
n.2043+10096T>C
c.89540A>G (p.Asn29847Ser)
c.63434A>G (p.Asn21145Ser)
c.63293A>G (p.Asn21098Ser)
c.89336A>G (p.Asn29779Ser)
c.84734A>G (p.Asn28245Ser)
c.84731A>G (p.Asn28244Ser)
c.81773A>G (p.Asn27258Ser)
c.63389A>G (p.Asn21130Ser)
c.84884A>G (p.Asn28295Ser)
c.84881A>G (p.Asn28294Ser)
c.84314A>G (p.Asn28105Ser)
c.81656A>G (p.Asn27219Ser)
c.81575A>G (p.Asn27192Ser)
c.63338A>G (p.Asn21113Ser)
c.53192A>G (p.Asn17731Ser)
 dbSNP gnomAD v4
2g.178552457T>GCA349510721TTN,TTN-AS1c.82739A>C (p.Asn27580Thr)
c.63824A>C (p.Asn21275Thr)
c.63623A>C (p.Asn21208Thr)
c.63248A>C (p.Asn21083Thr)
c.90443A>C (p.Asn30148Thr)
c.85520A>C (p.Asn28507Thr)
n.447-18843T>G
n.2043+10096T>G
c.89540A>C (p.Asn29847Thr)
c.63434A>C (p.Asn21145Thr)
c.63293A>C (p.Asn21098Thr)
c.89336A>C (p.Asn29779Thr)
c.84734A>C (p.Asn28245Thr)
c.84731A>C (p.Asn28244Thr)
c.81773A>C (p.Asn27258Thr)
c.63389A>C (p.Asn21130Thr)
c.84884A>C (p.Asn28295Thr)
c.84881A>C (p.Asn28294Thr)
c.84314A>C (p.Asn28105Thr)
c.81656A>C (p.Asn27219Thr)
c.81575A>C (p.Asn27192Thr)
c.63338A>C (p.Asn21113Thr)
c.53192A>C (p.Asn17731Thr)
2g.178552457T=CA1310521973TTN,TTN-AS1c.82739A= (p.Asn27580=)
c.63824A= (p.Asn21275=)
c.63623A= (p.Asn21208=)
c.63248A= (p.Asn21083=)
c.90443A= (p.Asn30148=)
c.85520A= (p.Asn28507=)
n.447-18843T=
n.2043+10096T=
c.89540A= (p.Asn29847=)
c.63434A= (p.Asn21145=)
c.63293A= (p.Asn21098=)
c.89336A= (p.Asn29779=)
c.84734A= (p.Asn28245=)
c.84731A= (p.Asn28244=)
c.81773A= (p.Asn27258=)
c.63389A= (p.Asn21130=)
c.84884A= (p.Asn28295=)
c.84881A= (p.Asn28294=)
c.84314A= (p.Asn28105=)
c.81656A= (p.Asn27219=)
c.81575A= (p.Asn27192=)
c.63338A= (p.Asn21113=)
c.53192A= (p.Asn17731=)
2g.178552458T>ACA349510737TTN,TTN-AS1c.82738A>T (p.Asn27580Tyr)
c.63823A>T (p.Asn21275Tyr)
c.63622A>T (p.Asn21208Tyr)
c.63247A>T (p.Asn21083Tyr)
c.90442A>T (p.Asn30148Tyr)
c.85519A>T (p.Asn28507Tyr)
n.447-18842T>A
n.2043+10097T>A
c.89539A>T (p.Asn29847Tyr)
c.63433A>T (p.Asn21145Tyr)
c.63292A>T (p.Asn21098Tyr)
c.89335A>T (p.Asn29779Tyr)
c.84733A>T (p.Asn28245Tyr)
c.84730A>T (p.Asn28244Tyr)
c.81772A>T (p.Asn27258Tyr)
c.63388A>T (p.Asn21130Tyr)
c.84883A>T (p.Asn28295Tyr)
c.84880A>T (p.Asn28294Tyr)
c.84313A>T (p.Asn28105Tyr)
c.81655A>T (p.Asn27219Tyr)
c.81574A>T (p.Asn27192Tyr)
c.63337A>T (p.Asn21113Tyr)
c.53191A>T (p.Asn17731Tyr)
2g.178552458T>CCA349510740TTN,TTN-AS1c.82738A>G (p.Asn27580Asp)
c.63823A>G (p.Asn21275Asp)
c.63622A>G (p.Asn21208Asp)
c.63247A>G (p.Asn21083Asp)
c.90442A>G (p.Asn30148Asp)
c.85519A>G (p.Asn28507Asp)
n.447-18842T>C
n.2043+10097T>C
c.89539A>G (p.Asn29847Asp)
c.63433A>G (p.Asn21145Asp)
c.63292A>G (p.Asn21098Asp)
c.89335A>G (p.Asn29779Asp)
c.84733A>G (p.Asn28245Asp)
c.84730A>G (p.Asn28244Asp)
c.81772A>G (p.Asn27258Asp)
c.63388A>G (p.Asn21130Asp)
c.84883A>G (p.Asn28295Asp)
c.84880A>G (p.Asn28294Asp)
c.84313A>G (p.Asn28105Asp)
c.81655A>G (p.Asn27219Asp)
c.81574A>G (p.Asn27192Asp)
c.63337A>G (p.Asn21113Asp)
c.53191A>G (p.Asn17731Asp)
2g.178552458T>GCA349510738TTN,TTN-AS1c.82738A>C (p.Asn27580His)
c.63823A>C (p.Asn21275His)
c.63622A>C (p.Asn21208His)
c.63247A>C (p.Asn21083His)
c.90442A>C (p.Asn30148His)
c.85519A>C (p.Asn28507His)
n.447-18842T>G
n.2043+10097T>G
c.89539A>C (p.Asn29847His)
c.63433A>C (p.Asn21145His)
c.63292A>C (p.Asn21098His)
c.89335A>C (p.Asn29779His)
c.84733A>C (p.Asn28245His)
c.84730A>C (p.Asn28244His)
c.81772A>C (p.Asn27258His)
c.63388A>C (p.Asn21130His)
c.84883A>C (p.Asn28295His)
c.84880A>C (p.Asn28294His)
c.84313A>C (p.Asn28105His)
c.81655A>C (p.Asn27219His)
c.81574A>C (p.Asn27192His)
c.63337A>C (p.Asn21113His)
c.53191A>C (p.Asn17731His)
2g.178552459G>ACA60977748TTN,TTN-AS1c.82737C>T (p.His27579=)
c.63822C>T (p.His21274=)
c.63621C>T (p.His21207=)
c.63246C>T (p.His21082=)
c.90441C>T (p.His30147=)
c.85518C>T (p.His28506=)
n.447-18841G>A
n.2043+10098G>A
c.89538C>T (p.His29846=)
c.63432C>T (p.His21144=)
c.63291C>T (p.His21097=)
c.89334C>T (p.His29778=)
c.84732C>T (p.His28244=)
c.84729C>T (p.His28243=)
c.81771C>T (p.His27257=)
c.63387C>T (p.His21129=)
c.84882C>T (p.His28294=)
c.84879C>T (p.His28293=)
c.84312C>T (p.His28104=)
c.81654C>T (p.His27218=)
c.81573C>T (p.His27191=)
c.63336C>T (p.His21112=)
c.53190C>T (p.His17730=)
 dbSNP
2g.178552459G>CCA349510751TTN,TTN-AS1c.82737C>G (p.His27579Gln)
c.63822C>G (p.His21274Gln)
c.63621C>G (p.His21207Gln)
c.63246C>G (p.His21082Gln)
c.90441C>G (p.His30147Gln)
c.85518C>G (p.His28506Gln)
n.447-18841G>C
n.2043+10098G>C
c.89538C>G (p.His29846Gln)
c.63432C>G (p.His21144Gln)
c.63291C>G (p.His21097Gln)
c.89334C>G (p.His29778Gln)
c.84732C>G (p.His28244Gln)
c.84729C>G (p.His28243Gln)
c.81771C>G (p.His27257Gln)
c.63387C>G (p.His21129Gln)
c.84882C>G (p.His28294Gln)
c.84879C>G (p.His28293Gln)
c.84312C>G (p.His28104Gln)
c.81654C>G (p.His27218Gln)
c.81573C>G (p.His27191Gln)
c.63336C>G (p.His21112Gln)
c.53190C>G (p.His17730Gln)
2g.178552459G=CA1310521979TTN,TTN-AS1c.82737C= (p.His27579=)
c.63822C= (p.His21274=)
c.63621C= (p.His21207=)
c.63246C= (p.His21082=)
c.90441C= (p.His30147=)
c.85518C= (p.His28506=)
n.447-18841G=
n.2043+10098G=
c.89538C= (p.His29846=)
c.63432C= (p.His21144=)
c.63291C= (p.His21097=)
c.89334C= (p.His29778=)
c.84732C= (p.His28244=)
c.84729C= (p.His28243=)
c.81771C= (p.His27257=)
c.63387C= (p.His21129=)
c.84882C= (p.His28294=)
c.84879C= (p.His28293=)
c.84312C= (p.His28104=)
c.81654C= (p.His27218=)
c.81573C= (p.His27191=)
c.63336C= (p.His21112=)
c.53190C= (p.His17730=)
2g.178552459G>TCA235051TTN,TTN-AS1c.82737C>A (p.His27579Gln)
c.63822C>A (p.His21274Gln)
c.63621C>A (p.His21207Gln)
c.63246C>A (p.His21082Gln)
c.90441C>A (p.His30147Gln)
c.85518C>A (p.His28506Gln)
n.447-18841G>T
n.2043+10098G>T
c.89538C>A (p.His29846Gln)
c.63432C>A (p.His21144Gln)
c.63291C>A (p.His21097Gln)
c.89334C>A (p.His29778Gln)
c.84732C>A (p.His28244Gln)
c.84729C>A (p.His28243Gln)
c.81771C>A (p.His27257Gln)
c.63387C>A (p.His21129Gln)
c.84882C>A (p.His28294Gln)
c.84879C>A (p.His28293Gln)
c.84312C>A (p.His28104Gln)
c.81654C>A (p.His27218Gln)
c.81573C>A (p.His27191Gln)
c.63336C>A (p.His21112Gln)
c.53190C>A (p.His17730Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178552460T>ACA349510756TTN,TTN-AS1c.82736A>T (p.His27579Leu)
c.63821A>T (p.His21274Leu)
c.63620A>T (p.His21207Leu)
c.63245A>T (p.His21082Leu)
c.90440A>T (p.His30147Leu)
c.85517A>T (p.His28506Leu)
n.447-18840T>A
n.2043+10099T>A
c.89537A>T (p.His29846Leu)
c.63431A>T (p.His21144Leu)
c.63290A>T (p.His21097Leu)
c.89333A>T (p.His29778Leu)
c.84731A>T (p.His28244Leu)
c.84728A>T (p.His28243Leu)
c.81770A>T (p.His27257Leu)
c.63386A>T (p.His21129Leu)
c.84881A>T (p.His28294Leu)
c.84878A>T (p.His28293Leu)
c.84311A>T (p.His28104Leu)
c.81653A>T (p.His27218Leu)
c.81572A>T (p.His27191Leu)
c.63335A>T (p.His21112Leu)
c.53189A>T (p.His17730Leu)
2g.178552460T>CCA349510757TTN,TTN-AS1c.82736A>G (p.His27579Arg)
c.63821A>G (p.His21274Arg)
c.63620A>G (p.His21207Arg)
c.63245A>G (p.His21082Arg)
c.90440A>G (p.His30147Arg)
c.85517A>G (p.His28506Arg)
n.447-18840T>C
n.2043+10099T>C
c.89537A>G (p.His29846Arg)
c.63431A>G (p.His21144Arg)
c.63290A>G (p.His21097Arg)
c.89333A>G (p.His29778Arg)
c.84731A>G (p.His28244Arg)
c.84728A>G (p.His28243Arg)
c.81770A>G (p.His27257Arg)
c.63386A>G (p.His21129Arg)
c.84881A>G (p.His28294Arg)
c.84878A>G (p.His28293Arg)
c.84311A>G (p.His28104Arg)
c.81653A>G (p.His27218Arg)
c.81572A>G (p.His27191Arg)
c.63335A>G (p.His21112Arg)
c.53189A>G (p.His17730Arg)
2g.178552460T>GCA349510758TTN,TTN-AS1c.82736A>C (p.His27579Pro)
c.63821A>C (p.His21274Pro)
c.63620A>C (p.His21207Pro)
c.63245A>C (p.His21082Pro)
c.90440A>C (p.His30147Pro)
c.85517A>C (p.His28506Pro)
n.447-18840T>G
n.2043+10099T>G
c.89537A>C (p.His29846Pro)
c.63431A>C (p.His21144Pro)
c.63290A>C (p.His21097Pro)
c.89333A>C (p.His29778Pro)
c.84731A>C (p.His28244Pro)
c.84728A>C (p.His28243Pro)
c.81770A>C (p.His27257Pro)
c.63386A>C (p.His21129Pro)
c.84881A>C (p.His28294Pro)
c.84878A>C (p.His28293Pro)
c.84311A>C (p.His28104Pro)
c.81653A>C (p.His27218Pro)
c.81572A>C (p.His27191Pro)
c.63335A>C (p.His21112Pro)
c.53189A>C (p.His17730Pro)
2g.178552461G>ACA349510759TTN,TTN-AS1c.82735C>T (p.His27579Tyr)
c.63820C>T (p.His21274Tyr)
c.63619C>T (p.His21207Tyr)
c.63244C>T (p.His21082Tyr)
c.90439C>T (p.His30147Tyr)
c.85516C>T (p.His28506Tyr)
n.447-18839G>A
n.2043+10100G>A
c.89536C>T (p.His29846Tyr)
c.63430C>T (p.His21144Tyr)
c.63289C>T (p.His21097Tyr)
c.89332C>T (p.His29778Tyr)
c.84730C>T (p.His28244Tyr)
c.84727C>T (p.His28243Tyr)
c.81769C>T (p.His27257Tyr)
c.63385C>T (p.His21129Tyr)
c.84880C>T (p.His28294Tyr)
c.84877C>T (p.His28293Tyr)
c.84310C>T (p.His28104Tyr)
c.81652C>T (p.His27218Tyr)
c.81571C>T (p.His27191Tyr)
c.63334C>T (p.His21112Tyr)
c.53188C>T (p.His17730Tyr)
 gnomAD v4
2g.178552461G>CCA349510760TTN,TTN-AS1c.82735C>G (p.His27579Asp)
c.63820C>G (p.His21274Asp)
c.63619C>G (p.His21207Asp)
c.63244C>G (p.His21082Asp)
c.90439C>G (p.His30147Asp)
c.85516C>G (p.His28506Asp)
n.447-18839G>C
n.2043+10100G>C
c.89536C>G (p.His29846Asp)
c.63430C>G (p.His21144Asp)
c.63289C>G (p.His21097Asp)
c.89332C>G (p.His29778Asp)
c.84730C>G (p.His28244Asp)
c.84727C>G (p.His28243Asp)
c.81769C>G (p.His27257Asp)
c.63385C>G (p.His21129Asp)
c.84880C>G (p.His28294Asp)
c.84877C>G (p.His28293Asp)
c.84310C>G (p.His28104Asp)
c.81652C>G (p.His27218Asp)
c.81571C>G (p.His27191Asp)
c.63334C>G (p.His21112Asp)
c.53188C>G (p.His17730Asp)
2g.178552461G>TCA349510761TTN,TTN-AS1c.82735C>A (p.His27579Asn)
c.63820C>A (p.His21274Asn)
c.63619C>A (p.His21207Asn)
c.63244C>A (p.His21082Asn)
c.90439C>A (p.His30147Asn)
c.85516C>A (p.His28506Asn)
n.447-18839G>T
n.2043+10100G>T
c.89536C>A (p.His29846Asn)
c.63430C>A (p.His21144Asn)
c.63289C>A (p.His21097Asn)
c.89332C>A (p.His29778Asn)
c.84730C>A (p.His28244Asn)
c.84727C>A (p.His28243Asn)
c.81769C>A (p.His27257Asn)
c.63385C>A (p.His21129Asn)
c.84880C>A (p.His28294Asn)
c.84877C>A (p.His28293Asn)
c.84310C>A (p.His28104Asn)
c.81652C>A (p.His27218Asn)
c.81571C>A (p.His27191Asn)
c.63334C>A (p.His21112Asn)
c.53188C>A (p.His17730Asn)
2g.178552462C>ACA430245271TTN,TTN-AS1c.82734G>T (p.Gly27578=)
c.63819G>T (p.Gly21273=)
c.63618G>T (p.Gly21206=)
c.63243G>T (p.Gly21081=)
c.90438G>T (p.Gly30146=)
c.85515G>T (p.Gly28505=)
n.447-18838C>A
n.2043+10101C>A
c.89535G>T (p.Gly29845=)
c.63429G>T (p.Gly21143=)
c.63288G>T (p.Gly21096=)
c.89331G>T (p.Gly29777=)
c.84729G>T (p.Gly28243=)
c.84726G>T (p.Gly28242=)
c.81768G>T (p.Gly27256=)
c.63384G>T (p.Gly21128=)
c.84879G>T (p.Gly28293=)
c.84876G>T (p.Gly28292=)
c.84309G>T (p.Gly28103=)
c.81651G>T (p.Gly27217=)
c.81570G>T (p.Gly27190=)
c.63333G>T (p.Gly21111=)
c.53187G>T (p.Gly17729=)
2g.178552462C=CA1310521982TTN,TTN-AS1c.82734G= (p.Gly27578=)
c.63819G= (p.Gly21273=)
c.63618G= (p.Gly21206=)
c.63243G= (p.Gly21081=)
c.90438G= (p.Gly30146=)
c.85515G= (p.Gly28505=)
n.447-18838C=
n.2043+10101C=
c.89535G= (p.Gly29845=)
c.63429G= (p.Gly21143=)
c.63288G= (p.Gly21096=)
c.89331G= (p.Gly29777=)
c.84729G= (p.Gly28243=)
c.84726G= (p.Gly28242=)
c.81768G= (p.Gly27256=)
c.63384G= (p.Gly21128=)
c.84879G= (p.Gly28293=)
c.84876G= (p.Gly28292=)
c.84309G= (p.Gly28103=)
c.81651G= (p.Gly27217=)
c.81570G= (p.Gly27190=)
c.63333G= (p.Gly21111=)
c.53187G= (p.Gly17729=)
2g.178552462C>GCA430245273TTN,TTN-AS1c.82734G>C (p.Gly27578=)
c.63819G>C (p.Gly21273=)
c.63618G>C (p.Gly21206=)
c.63243G>C (p.Gly21081=)
c.90438G>C (p.Gly30146=)
c.85515G>C (p.Gly28505=)
n.447-18838C>G
n.2043+10101C>G
c.89535G>C (p.Gly29845=)
c.63429G>C (p.Gly21143=)
c.63288G>C (p.Gly21096=)
c.89331G>C (p.Gly29777=)
c.84729G>C (p.Gly28243=)
c.84726G>C (p.Gly28242=)
c.81768G>C (p.Gly27256=)
c.63384G>C (p.Gly21128=)
c.84879G>C (p.Gly28293=)
c.84876G>C (p.Gly28292=)
c.84309G>C (p.Gly28103=)
c.81651G>C (p.Gly27217=)
c.81570G>C (p.Gly27190=)
c.63333G>C (p.Gly21111=)
c.53187G>C (p.Gly17729=)
2g.178552462C>TCA430245274TTN,TTN-AS1c.82734G>A (p.Gly27578=)
c.63819G>A (p.Gly21273=)
c.63618G>A (p.Gly21206=)
c.63243G>A (p.Gly21081=)
c.90438G>A (p.Gly30146=)
c.85515G>A (p.Gly28505=)
n.447-18838C>T
n.2043+10101C>T
c.89535G>A (p.Gly29845=)
c.63429G>A (p.Gly21143=)
c.63288G>A (p.Gly21096=)
c.89331G>A (p.Gly29777=)
c.84729G>A (p.Gly28243=)
c.84726G>A (p.Gly28242=)
c.81768G>A (p.Gly27256=)
c.63384G>A (p.Gly21128=)
c.84879G>A (p.Gly28293=)
c.84876G>A (p.Gly28292=)
c.84309G>A (p.Gly28103=)
c.81651G>A (p.Gly27217=)
c.81570G>A (p.Gly27190=)
c.63333G>A (p.Gly21111=)
c.53187G>A (p.Gly17729=)
 dbSNP
2g.178552463C>ACA349510762TTN,TTN-AS1c.82733G>T (p.Gly27578Val)
c.63818G>T (p.Gly21273Val)
c.63617G>T (p.Gly21206Val)
c.63242G>T (p.Gly21081Val)
c.90437G>T (p.Gly30146Val)
c.85514G>T (p.Gly28505Val)
n.447-18837C>A
n.2043+10102C>A
c.89534G>T (p.Gly29845Val)
c.63428G>T (p.Gly21143Val)
c.63287G>T (p.Gly21096Val)
c.89330G>T (p.Gly29777Val)
c.84728G>T (p.Gly28243Val)
c.84725G>T (p.Gly28242Val)
c.81767G>T (p.Gly27256Val)
c.63383G>T (p.Gly21128Val)
c.84878G>T (p.Gly28293Val)
c.84875G>T (p.Gly28292Val)
c.84308G>T (p.Gly28103Val)
c.81650G>T (p.Gly27217Val)
c.81569G>T (p.Gly27190Val)
c.63332G>T (p.Gly21111Val)
c.53186G>T (p.Gly17729Val)
2g.178552463C=CA1310521986TTN,TTN-AS1c.82733G= (p.Gly27578=)
c.63818G= (p.Gly21273=)
c.63617G= (p.Gly21206=)
c.63242G= (p.Gly21081=)
c.90437G= (p.Gly30146=)
c.85514G= (p.Gly28505=)
n.447-18837C=
n.2043+10102C=
c.89534G= (p.Gly29845=)
c.63428G= (p.Gly21143=)
c.63287G= (p.Gly21096=)
c.89330G= (p.Gly29777=)
c.84728G= (p.Gly28243=)
c.84725G= (p.Gly28242=)
c.81767G= (p.Gly27256=)
c.63383G= (p.Gly21128=)
c.84878G= (p.Gly28293=)
c.84875G= (p.Gly28292=)
c.84308G= (p.Gly28103=)
c.81650G= (p.Gly27217=)
c.81569G= (p.Gly27190=)
c.63332G= (p.Gly21111=)
c.53186G= (p.Gly17729=)
2g.178552463C>GCA349510763TTN,TTN-AS1c.82733G>C (p.Gly27578Ala)
c.63818G>C (p.Gly21273Ala)
c.63617G>C (p.Gly21206Ala)
c.63242G>C (p.Gly21081Ala)
c.90437G>C (p.Gly30146Ala)
c.85514G>C (p.Gly28505Ala)
n.447-18837C>G
n.2043+10102C>G
c.89534G>C (p.Gly29845Ala)
c.63428G>C (p.Gly21143Ala)
c.63287G>C (p.Gly21096Ala)
c.89330G>C (p.Gly29777Ala)
c.84728G>C (p.Gly28243Ala)
c.84725G>C (p.Gly28242Ala)
c.81767G>C (p.Gly27256Ala)
c.63383G>C (p.Gly21128Ala)
c.84878G>C (p.Gly28293Ala)
c.84875G>C (p.Gly28292Ala)
c.84308G>C (p.Gly28103Ala)
c.81650G>C (p.Gly27217Ala)
c.81569G>C (p.Gly27190Ala)
c.63332G>C (p.Gly21111Ala)
c.53186G>C (p.Gly17729Ala)
 dbSNP
2g.178552463C>TCA1987790TTN,TTN-AS1c.82733G>A (p.Gly27578Glu)
c.63818G>A (p.Gly21273Glu)
c.63617G>A (p.Gly21206Glu)
c.63242G>A (p.Gly21081Glu)
c.90437G>A (p.Gly30146Glu)
c.85514G>A (p.Gly28505Glu)
n.447-18837C>T
n.2043+10102C>T
c.89534G>A (p.Gly29845Glu)
c.63428G>A (p.Gly21143Glu)
c.63287G>A (p.Gly21096Glu)
c.89330G>A (p.Gly29777Glu)
c.84728G>A (p.Gly28243Glu)
c.84725G>A (p.Gly28242Glu)
c.81767G>A (p.Gly27256Glu)
c.63383G>A (p.Gly21128Glu)
c.84878G>A (p.Gly28293Glu)
c.84875G>A (p.Gly28292Glu)
c.84308G>A (p.Gly28103Glu)
c.81650G>A (p.Gly27217Glu)
c.81569G>A (p.Gly27190Glu)
c.63332G>A (p.Gly21111Glu)
c.53186G>A (p.Gly17729Glu)
 dbSNP ExAC gnomAD v2
2g.178552464C>ACA349510765TTN,TTN-AS1c.82732G>T (p.Gly27578Trp)
c.63817G>T (p.Gly21273Trp)
c.63616G>T (p.Gly21206Trp)
c.63241G>T (p.Gly21081Trp)
c.90436G>T (p.Gly30146Trp)
c.85513G>T (p.Gly28505Trp)
n.447-18836C>A
n.2043+10103C>A
c.89533G>T (p.Gly29845Trp)
c.63427G>T (p.Gly21143Trp)
c.63286G>T (p.Gly21096Trp)
c.89329G>T (p.Gly29777Trp)
c.84727G>T (p.Gly28243Trp)
c.84724G>T (p.Gly28242Trp)
c.81766G>T (p.Gly27256Trp)
c.63382G>T (p.Gly21128Trp)
c.84877G>T (p.Gly28293Trp)
c.84874G>T (p.Gly28292Trp)
c.84307G>T (p.Gly28103Trp)
c.81649G>T (p.Gly27217Trp)
c.81568G>T (p.Gly27190Trp)
c.63331G>T (p.Gly21111Trp)
c.53185G>T (p.Gly17729Trp)
2g.178552464C=CA1310521992TTN,TTN-AS1c.82732G= (p.Gly27578=)
c.63817G= (p.Gly21273=)
c.63616G= (p.Gly21206=)
c.63241G= (p.Gly21081=)
c.90436G= (p.Gly30146=)
c.85513G= (p.Gly28505=)
n.447-18836C=
n.2043+10103C=
c.89533G= (p.Gly29845=)
c.63427G= (p.Gly21143=)
c.63286G= (p.Gly21096=)
c.89329G= (p.Gly29777=)
c.84727G= (p.Gly28243=)
c.84724G= (p.Gly28242=)
c.81766G= (p.Gly27256=)
c.63382G= (p.Gly21128=)
c.84877G= (p.Gly28293=)
c.84874G= (p.Gly28292=)
c.84307G= (p.Gly28103=)
c.81649G= (p.Gly27217=)
c.81568G= (p.Gly27190=)
c.63331G= (p.Gly21111=)
c.53185G= (p.Gly17729=)
2g.178552464C>GCA349510764TTN,TTN-AS1c.82732G>C (p.Gly27578Arg)
c.63817G>C (p.Gly21273Arg)
c.63616G>C (p.Gly21206Arg)
c.63241G>C (p.Gly21081Arg)
c.90436G>C (p.Gly30146Arg)
c.85513G>C (p.Gly28505Arg)
n.447-18836C>G
n.2043+10103C>G
c.89533G>C (p.Gly29845Arg)
c.63427G>C (p.Gly21143Arg)
c.63286G>C (p.Gly21096Arg)
c.89329G>C (p.Gly29777Arg)
c.84727G>C (p.Gly28243Arg)
c.84724G>C (p.Gly28242Arg)
c.81766G>C (p.Gly27256Arg)
c.63382G>C (p.Gly21128Arg)
c.84877G>C (p.Gly28293Arg)
c.84874G>C (p.Gly28292Arg)
c.84307G>C (p.Gly28103Arg)
c.81649G>C (p.Gly27217Arg)
c.81568G>C (p.Gly27190Arg)
c.63331G>C (p.Gly21111Arg)
c.53185G>C (p.Gly17729Arg)
2g.178552464C>TCA1987791TTN,TTN-AS1c.82732G>A (p.Gly27578Arg)
c.63817G>A (p.Gly21273Arg)
c.63616G>A (p.Gly21206Arg)
c.63241G>A (p.Gly21081Arg)
c.90436G>A (p.Gly30146Arg)
c.85513G>A (p.Gly28505Arg)
n.447-18836C>T
n.2043+10103C>T
c.89533G>A (p.Gly29845Arg)
c.63427G>A (p.Gly21143Arg)
c.63286G>A (p.Gly21096Arg)
c.89329G>A (p.Gly29777Arg)
c.84727G>A (p.Gly28243Arg)
c.84724G>A (p.Gly28242Arg)
c.81766G>A (p.Gly27256Arg)
c.63382G>A (p.Gly21128Arg)
c.84877G>A (p.Gly28293Arg)
c.84874G>A (p.Gly28292Arg)
c.84307G>A (p.Gly28103Arg)
c.81649G>A (p.Gly27217Arg)
c.81568G>A (p.Gly27190Arg)
c.63331G>A (p.Gly21111Arg)
c.53185G>A (p.Gly17729Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178552465A>CCA349510769TTN,TTN-AS1c.82731T>G (p.Ile27577Met)
c.63816T>G (p.Ile21272Met)
c.63615T>G (p.Ile21205Met)
c.63240T>G (p.Ile21080Met)
c.90435T>G (p.Ile30145Met)
c.85512T>G (p.Ile28504Met)
n.447-18835A>C
n.2043+10104A>C
c.89532T>G (p.Ile29844Met)
c.63426T>G (p.Ile21142Met)
c.63285T>G (p.Ile21095Met)
c.89328T>G (p.Ile29776Met)
c.84726T>G (p.Ile28242Met)
c.84723T>G (p.Ile28241Met)
c.81765T>G (p.Ile27255Met)
c.63381T>G (p.Ile21127Met)
c.84876T>G (p.Ile28292Met)
c.84873T>G (p.Ile28291Met)
c.84306T>G (p.Ile28102Met)
c.81648T>G (p.Ile27216Met)
c.81567T>G (p.Ile27189Met)
c.63330T>G (p.Ile21110Met)
c.53184T>G (p.Ile17728Met)
2g.178552465A>GCA430245278TTN,TTN-AS1c.82731T>C (p.Ile27577=)
c.63816T>C (p.Ile21272=)
c.63615T>C (p.Ile21205=)
c.63240T>C (p.Ile21080=)
c.90435T>C (p.Ile30145=)
c.85512T>C (p.Ile28504=)
n.447-18835A>G
n.2043+10104A>G
c.89532T>C (p.Ile29844=)
c.63426T>C (p.Ile21142=)
c.63285T>C (p.Ile21095=)
c.89328T>C (p.Ile29776=)
c.84726T>C (p.Ile28242=)
c.84723T>C (p.Ile28241=)
c.81765T>C (p.Ile27255=)
c.63381T>C (p.Ile21127=)
c.84876T>C (p.Ile28292=)
c.84873T>C (p.Ile28291=)
c.84306T>C (p.Ile28102=)
c.81648T>C (p.Ile27216=)
c.81567T>C (p.Ile27189=)
c.63330T>C (p.Ile21110=)
c.53184T>C (p.Ile17728=)
2g.178552465A>TCA430245280TTN,TTN-AS1c.82731T>A (p.Ile27577=)
c.63816T>A (p.Ile21272=)
c.63615T>A (p.Ile21205=)
c.63240T>A (p.Ile21080=)
c.90435T>A (p.Ile30145=)
c.85512T>A (p.Ile28504=)
n.447-18835A>T
n.2043+10104A>T
c.89532T>A (p.Ile29844=)
c.63426T>A (p.Ile21142=)
c.63285T>A (p.Ile21095=)
c.89328T>A (p.Ile29776=)
c.84726T>A (p.Ile28242=)
c.84723T>A (p.Ile28241=)
c.81765T>A (p.Ile27255=)
c.63381T>A (p.Ile21127=)
c.84876T>A (p.Ile28292=)
c.84873T>A (p.Ile28291=)
c.84306T>A (p.Ile28102=)
c.81648T>A (p.Ile27216=)
c.81567T>A (p.Ile27189=)
c.63330T>A (p.Ile21110=)
c.53184T>A (p.Ile17728=)
2g.178552466A=CA1310521995TTN,TTN-AS1c.82730T= (p.Ile27577=)
c.63815T= (p.Ile21272=)
c.63614T= (p.Ile21205=)
c.63239T= (p.Ile21080=)
c.90434T= (p.Ile30145=)
c.85511T= (p.Ile28504=)
n.447-18834A=
n.2043+10105A=
c.89531T= (p.Ile29844=)
c.63425T= (p.Ile21142=)
c.63284T= (p.Ile21095=)
c.89327T= (p.Ile29776=)
c.84725T= (p.Ile28242=)
c.84722T= (p.Ile28241=)
c.81764T= (p.Ile27255=)
c.63380T= (p.Ile21127=)
c.84875T= (p.Ile28292=)
c.84872T= (p.Ile28291=)
c.84305T= (p.Ile28102=)
c.81647T= (p.Ile27216=)
c.81566T= (p.Ile27189=)
c.63329T= (p.Ile21110=)
c.53183T= (p.Ile17728=)
2g.178552466A>CCA349510772TTN,TTN-AS1c.82730T>G (p.Ile27577Ser)
c.63815T>G (p.Ile21272Ser)
c.63614T>G (p.Ile21205Ser)
c.63239T>G (p.Ile21080Ser)
c.90434T>G (p.Ile30145Ser)
c.85511T>G (p.Ile28504Ser)
n.447-18834A>C
n.2043+10105A>C
c.89531T>G (p.Ile29844Ser)
c.63425T>G (p.Ile21142Ser)
c.63284T>G (p.Ile21095Ser)
c.89327T>G (p.Ile29776Ser)
c.84725T>G (p.Ile28242Ser)
c.84722T>G (p.Ile28241Ser)
c.81764T>G (p.Ile27255Ser)
c.63380T>G (p.Ile21127Ser)
c.84875T>G (p.Ile28292Ser)
c.84872T>G (p.Ile28291Ser)
c.84305T>G (p.Ile28102Ser)
c.81647T>G (p.Ile27216Ser)
c.81566T>G (p.Ile27189Ser)
c.63329T>G (p.Ile21110Ser)
c.53183T>G (p.Ile17728Ser)
2g.178552466A>GCA1987792TTN,TTN-AS1c.82730T>C (p.Ile27577Thr)
c.63815T>C (p.Ile21272Thr)
c.63614T>C (p.Ile21205Thr)
c.63239T>C (p.Ile21080Thr)
c.90434T>C (p.Ile30145Thr)
c.85511T>C (p.Ile28504Thr)
n.447-18834A>G
n.2043+10105A>G
c.89531T>C (p.Ile29844Thr)
c.63425T>C (p.Ile21142Thr)
c.63284T>C (p.Ile21095Thr)
c.89327T>C (p.Ile29776Thr)
c.84725T>C (p.Ile28242Thr)
c.84722T>C (p.Ile28241Thr)
c.81764T>C (p.Ile27255Thr)
c.63380T>C (p.Ile21127Thr)
c.84875T>C (p.Ile28292Thr)
c.84872T>C (p.Ile28291Thr)
c.84305T>C (p.Ile28102Thr)
c.81647T>C (p.Ile27216Thr)
c.81566T>C (p.Ile27189Thr)
c.63329T>C (p.Ile21110Thr)
c.53183T>C (p.Ile17728Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552466A>TCA349510777TTN,TTN-AS1c.82730T>A (p.Ile27577Asn)
c.63815T>A (p.Ile21272Asn)
c.63614T>A (p.Ile21205Asn)
c.63239T>A (p.Ile21080Asn)
c.90434T>A (p.Ile30145Asn)
c.85511T>A (p.Ile28504Asn)
n.447-18834A>T
n.2043+10105A>T
c.89531T>A (p.Ile29844Asn)
c.63425T>A (p.Ile21142Asn)
c.63284T>A (p.Ile21095Asn)
c.89327T>A (p.Ile29776Asn)
c.84725T>A (p.Ile28242Asn)
c.84722T>A (p.Ile28241Asn)
c.81764T>A (p.Ile27255Asn)
c.63380T>A (p.Ile21127Asn)
c.84875T>A (p.Ile28292Asn)
c.84872T>A (p.Ile28291Asn)
c.84305T>A (p.Ile28102Asn)
c.81647T>A (p.Ile27216Asn)
c.81566T>A (p.Ile27189Asn)
c.63329T>A (p.Ile21110Asn)
c.53183T>A (p.Ile17728Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178552467T>ACA349510785TTN,TTN-AS1c.82729A>T (p.Ile27577Phe)
c.63814A>T (p.Ile21272Phe)
c.63613A>T (p.Ile21205Phe)
c.63238A>T (p.Ile21080Phe)
c.90433A>T (p.Ile30145Phe)
c.85510A>T (p.Ile28504Phe)
n.447-18833T>A
n.2043+10106T>A
c.89530A>T (p.Ile29844Phe)
c.63424A>T (p.Ile21142Phe)
c.63283A>T (p.Ile21095Phe)
c.89326A>T (p.Ile29776Phe)
c.84724A>T (p.Ile28242Phe)
c.84721A>T (p.Ile28241Phe)
c.81763A>T (p.Ile27255Phe)
c.63379A>T (p.Ile21127Phe)
c.84874A>T (p.Ile28292Phe)
c.84871A>T (p.Ile28291Phe)
c.84304A>T (p.Ile28102Phe)
c.81646A>T (p.Ile27216Phe)
c.81565A>T (p.Ile27189Phe)
c.63328A>T (p.Ile21110Phe)
c.53182A>T (p.Ile17728Phe)
2g.178552467T>CCA349510788TTN,TTN-AS1c.82729A>G (p.Ile27577Val)
c.63814A>G (p.Ile21272Val)
c.63613A>G (p.Ile21205Val)
c.63238A>G (p.Ile21080Val)
c.90433A>G (p.Ile30145Val)
c.85510A>G (p.Ile28504Val)
n.447-18833T>C
n.2043+10106T>C
c.89530A>G (p.Ile29844Val)
c.63424A>G (p.Ile21142Val)
c.63283A>G (p.Ile21095Val)
c.89326A>G (p.Ile29776Val)
c.84724A>G (p.Ile28242Val)
c.84721A>G (p.Ile28241Val)
c.81763A>G (p.Ile27255Val)
c.63379A>G (p.Ile21127Val)
c.84874A>G (p.Ile28292Val)
c.84871A>G (p.Ile28291Val)
c.84304A>G (p.Ile28102Val)
c.81646A>G (p.Ile27216Val)
c.81565A>G (p.Ile27189Val)
c.63328A>G (p.Ile21110Val)
c.53182A>G (p.Ile17728Val)
2g.178552467T>GCA349510790TTN,TTN-AS1c.82729A>C (p.Ile27577Leu)
c.63814A>C (p.Ile21272Leu)
c.63613A>C (p.Ile21205Leu)
c.63238A>C (p.Ile21080Leu)
c.90433A>C (p.Ile30145Leu)
c.85510A>C (p.Ile28504Leu)
n.447-18833T>G
n.2043+10106T>G
c.89530A>C (p.Ile29844Leu)
c.63424A>C (p.Ile21142Leu)
c.63283A>C (p.Ile21095Leu)
c.89326A>C (p.Ile29776Leu)
c.84724A>C (p.Ile28242Leu)
c.84721A>C (p.Ile28241Leu)
c.81763A>C (p.Ile27255Leu)
c.63379A>C (p.Ile21127Leu)
c.84874A>C (p.Ile28292Leu)
c.84871A>C (p.Ile28291Leu)
c.84304A>C (p.Ile28102Leu)
c.81646A>C (p.Ile27216Leu)
c.81565A>C (p.Ile27189Leu)
c.63328A>C (p.Ile21110Leu)
c.53182A>C (p.Ile17728Leu)
2g.178552468T>ACA349510794TTN,TTN-AS1c.82728A>T (p.Arg27576Ser)
c.63813A>T (p.Arg21271Ser)
c.63612A>T (p.Arg21204Ser)
c.63237A>T (p.Arg21079Ser)
c.90432A>T (p.Arg30144Ser)
c.85509A>T (p.Arg28503Ser)
n.447-18832T>A
n.2043+10107T>A
c.89529A>T (p.Arg29843Ser)
c.63423A>T (p.Arg21141Ser)
c.63282A>T (p.Arg21094Ser)
c.89325A>T (p.Arg29775Ser)
c.84723A>T (p.Arg28241Ser)
c.84720A>T (p.Arg28240Ser)
c.81762A>T (p.Arg27254Ser)
c.63378A>T (p.Arg21126Ser)
c.84873A>T (p.Arg28291Ser)
c.84870A>T (p.Arg28290Ser)
c.84303A>T (p.Arg28101Ser)
c.81645A>T (p.Arg27215Ser)
c.81564A>T (p.Arg27188Ser)
c.63327A>T (p.Arg21109Ser)
c.53181A>T (p.Arg17727Ser)
2g.178552468T>CCA430245287TTN,TTN-AS1c.82728A>G (p.Arg27576=)
c.63813A>G (p.Arg21271=)
c.63612A>G (p.Arg21204=)
c.63237A>G (p.Arg21079=)
c.90432A>G (p.Arg30144=)
c.85509A>G (p.Arg28503=)
n.447-18832T>C
n.2043+10107T>C
c.89529A>G (p.Arg29843=)
c.63423A>G (p.Arg21141=)
c.63282A>G (p.Arg21094=)
c.89325A>G (p.Arg29775=)
c.84723A>G (p.Arg28241=)
c.84720A>G (p.Arg28240=)
c.81762A>G (p.Arg27254=)
c.63378A>G (p.Arg21126=)
c.84873A>G (p.Arg28291=)
c.84870A>G (p.Arg28290=)
c.84303A>G (p.Arg28101=)
c.81645A>G (p.Arg27215=)
c.81564A>G (p.Arg27188=)
c.63327A>G (p.Arg21109=)
c.53181A>G (p.Arg17727=)
2g.178552468T>GCA349510798TTN,TTN-AS1c.82728A>C (p.Arg27576Ser)
c.63813A>C (p.Arg21271Ser)
c.63612A>C (p.Arg21204Ser)
c.63237A>C (p.Arg21079Ser)
c.90432A>C (p.Arg30144Ser)
c.85509A>C (p.Arg28503Ser)
n.447-18832T>G
n.2043+10107T>G
c.89529A>C (p.Arg29843Ser)
c.63423A>C (p.Arg21141Ser)
c.63282A>C (p.Arg21094Ser)
c.89325A>C (p.Arg29775Ser)
c.84723A>C (p.Arg28241Ser)
c.84720A>C (p.Arg28240Ser)
c.81762A>C (p.Arg27254Ser)
c.63378A>C (p.Arg21126Ser)
c.84873A>C (p.Arg28291Ser)
c.84870A>C (p.Arg28290Ser)
c.84303A>C (p.Arg28101Ser)
c.81645A>C (p.Arg27215Ser)
c.81564A>C (p.Arg27188Ser)
c.63327A>C (p.Arg21109Ser)
c.53181A>C (p.Arg17727Ser)

Number of alleles fetched