Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178551833A=CA1310521263TTN,TTN-AS1c.83363T= (p.Val27788=)
c.64448T= (p.Val21483=)
c.64247T= (p.Val21416=)
c.63872T= (p.Val21291=)
c.91067T= (p.Val30356=)
c.86144T= (p.Val28715=)
n.447-19467A=
n.2043+9472A=
c.90164T= (p.Val30055=)
c.64058T= (p.Val21353=)
c.63917T= (p.Val21306=)
c.89960T= (p.Val29987=)
c.85358T= (p.Val28453=)
c.85355T= (p.Val28452=)
c.82397T= (p.Val27466=)
c.64013T= (p.Val21338=)
c.85508T= (p.Val28503=)
c.85505T= (p.Val28502=)
c.84938T= (p.Val28313=)
c.82280T= (p.Val27427=)
c.82199T= (p.Val27400=)
c.63962T= (p.Val21321=)
c.53816T= (p.Val17939=)
2g.178551833A>CCA349503983TTN,TTN-AS1c.83363T>G (p.Val27788Gly)
c.64448T>G (p.Val21483Gly)
c.64247T>G (p.Val21416Gly)
c.63872T>G (p.Val21291Gly)
c.91067T>G (p.Val30356Gly)
c.86144T>G (p.Val28715Gly)
n.447-19467A>C
n.2043+9472A>C
c.90164T>G (p.Val30055Gly)
c.64058T>G (p.Val21353Gly)
c.63917T>G (p.Val21306Gly)
c.89960T>G (p.Val29987Gly)
c.85358T>G (p.Val28453Gly)
c.85355T>G (p.Val28452Gly)
c.82397T>G (p.Val27466Gly)
c.64013T>G (p.Val21338Gly)
c.85508T>G (p.Val28503Gly)
c.85505T>G (p.Val28502Gly)
c.84938T>G (p.Val28313Gly)
c.82280T>G (p.Val27427Gly)
c.82199T>G (p.Val27400Gly)
c.63962T>G (p.Val21321Gly)
c.53816T>G (p.Val17939Gly)
2g.178551833A>GCA1987698TTN,TTN-AS1c.83363T>C (p.Val27788Ala)
c.64448T>C (p.Val21483Ala)
c.64247T>C (p.Val21416Ala)
c.63872T>C (p.Val21291Ala)
c.91067T>C (p.Val30356Ala)
c.86144T>C (p.Val28715Ala)
n.447-19467A>G
n.2043+9472A>G
c.90164T>C (p.Val30055Ala)
c.64058T>C (p.Val21353Ala)
c.63917T>C (p.Val21306Ala)
c.89960T>C (p.Val29987Ala)
c.85358T>C (p.Val28453Ala)
c.85355T>C (p.Val28452Ala)
c.82397T>C (p.Val27466Ala)
c.64013T>C (p.Val21338Ala)
c.85508T>C (p.Val28503Ala)
c.85505T>C (p.Val28502Ala)
c.84938T>C (p.Val28313Ala)
c.82280T>C (p.Val27427Ala)
c.82199T>C (p.Val27400Ala)
c.63962T>C (p.Val21321Ala)
c.53816T>C (p.Val17939Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551833A>TCA349503989TTN,TTN-AS1c.83363T>A (p.Val27788Asp)
c.64448T>A (p.Val21483Asp)
c.64247T>A (p.Val21416Asp)
c.63872T>A (p.Val21291Asp)
c.91067T>A (p.Val30356Asp)
c.86144T>A (p.Val28715Asp)
n.447-19467A>T
n.2043+9472A>T
c.90164T>A (p.Val30055Asp)
c.64058T>A (p.Val21353Asp)
c.63917T>A (p.Val21306Asp)
c.89960T>A (p.Val29987Asp)
c.85358T>A (p.Val28453Asp)
c.85355T>A (p.Val28452Asp)
c.82397T>A (p.Val27466Asp)
c.64013T>A (p.Val21338Asp)
c.85508T>A (p.Val28503Asp)
c.85505T>A (p.Val28502Asp)
c.84938T>A (p.Val28313Asp)
c.82280T>A (p.Val27427Asp)
c.82199T>A (p.Val27400Asp)
c.63962T>A (p.Val21321Asp)
c.53816T>A (p.Val17939Asp)
2g.178551834C>ACA349504001TTN,TTN-AS1c.83362G>T (p.Val27788Phe)
c.64447G>T (p.Val21483Phe)
c.64246G>T (p.Val21416Phe)
c.63871G>T (p.Val21291Phe)
c.91066G>T (p.Val30356Phe)
c.86143G>T (p.Val28715Phe)
n.447-19466C>A
n.2043+9473C>A
c.90163G>T (p.Val30055Phe)
c.64057G>T (p.Val21353Phe)
c.63916G>T (p.Val21306Phe)
c.89959G>T (p.Val29987Phe)
c.85357G>T (p.Val28453Phe)
c.85354G>T (p.Val28452Phe)
c.82396G>T (p.Val27466Phe)
c.64012G>T (p.Val21338Phe)
c.85507G>T (p.Val28503Phe)
c.85504G>T (p.Val28502Phe)
c.84937G>T (p.Val28313Phe)
c.82279G>T (p.Val27427Phe)
c.82198G>T (p.Val27400Phe)
c.63961G>T (p.Val21321Phe)
c.53815G>T (p.Val17939Phe)
2g.178551834C=CA1310521265TTN,TTN-AS1c.83362G= (p.Val27788=)
c.64447G= (p.Val21483=)
c.64246G= (p.Val21416=)
c.63871G= (p.Val21291=)
c.91066G= (p.Val30356=)
c.86143G= (p.Val28715=)
n.447-19466C=
n.2043+9473C=
c.90163G= (p.Val30055=)
c.64057G= (p.Val21353=)
c.63916G= (p.Val21306=)
c.89959G= (p.Val29987=)
c.85357G= (p.Val28453=)
c.85354G= (p.Val28452=)
c.82396G= (p.Val27466=)
c.64012G= (p.Val21338=)
c.85507G= (p.Val28503=)
c.85504G= (p.Val28502=)
c.84937G= (p.Val28313=)
c.82279G= (p.Val27427=)
c.82198G= (p.Val27400=)
c.63961G= (p.Val21321=)
c.53815G= (p.Val17939=)
2g.178551834C>GCA349503992TTN,TTN-AS1c.83362G>C (p.Val27788Leu)
c.64447G>C (p.Val21483Leu)
c.64246G>C (p.Val21416Leu)
c.63871G>C (p.Val21291Leu)
c.91066G>C (p.Val30356Leu)
c.86143G>C (p.Val28715Leu)
n.447-19466C>G
n.2043+9473C>G
c.90163G>C (p.Val30055Leu)
c.64057G>C (p.Val21353Leu)
c.63916G>C (p.Val21306Leu)
c.89959G>C (p.Val29987Leu)
c.85357G>C (p.Val28453Leu)
c.85354G>C (p.Val28452Leu)
c.82396G>C (p.Val27466Leu)
c.64012G>C (p.Val21338Leu)
c.85507G>C (p.Val28503Leu)
c.85504G>C (p.Val28502Leu)
c.84937G>C (p.Val28313Leu)
c.82279G>C (p.Val27427Leu)
c.82198G>C (p.Val27400Leu)
c.63961G>C (p.Val21321Leu)
c.53815G>C (p.Val17939Leu)
2g.178551834C>TCA1987699TTN,TTN-AS1c.83362G>A (p.Val27788Ile)
c.64447G>A (p.Val21483Ile)
c.64246G>A (p.Val21416Ile)
c.63871G>A (p.Val21291Ile)
c.91066G>A (p.Val30356Ile)
c.86143G>A (p.Val28715Ile)
n.447-19466C>T
n.2043+9473C>T
c.90163G>A (p.Val30055Ile)
c.64057G>A (p.Val21353Ile)
c.63916G>A (p.Val21306Ile)
c.89959G>A (p.Val29987Ile)
c.85357G>A (p.Val28453Ile)
c.85354G>A (p.Val28452Ile)
c.82396G>A (p.Val27466Ile)
c.64012G>A (p.Val21338Ile)
c.85507G>A (p.Val28503Ile)
c.85504G>A (p.Val28502Ile)
c.84937G>A (p.Val28313Ile)
c.82279G>A (p.Val27427Ile)
c.82198G>A (p.Val27400Ile)
c.63961G>A (p.Val21321Ile)
c.53815G>A (p.Val17939Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551835T>ACA349504003TTN,TTN-AS1c.83361A>T (p.Glu27787Asp)
c.64446A>T (p.Glu21482Asp)
c.64245A>T (p.Glu21415Asp)
c.63870A>T (p.Glu21290Asp)
c.91065A>T (p.Glu30355Asp)
c.86142A>T (p.Glu28714Asp)
n.447-19465T>A
n.2043+9474T>A
c.90162A>T (p.Glu30054Asp)
c.64056A>T (p.Glu21352Asp)
c.63915A>T (p.Glu21305Asp)
c.89958A>T (p.Glu29986Asp)
c.85356A>T (p.Glu28452Asp)
c.85353A>T (p.Glu28451Asp)
c.82395A>T (p.Glu27465Asp)
c.64011A>T (p.Glu21337Asp)
c.85506A>T (p.Glu28502Asp)
c.85503A>T (p.Glu28501Asp)
c.84936A>T (p.Glu28312Asp)
c.82278A>T (p.Glu27426Asp)
c.82197A>T (p.Glu27399Asp)
c.63960A>T (p.Glu21320Asp)
c.53814A>T (p.Glu17938Asp)
2g.178551835T>CCA16603868TTN,TTN-AS1c.83361A>G (p.Glu27787=)
c.64446A>G (p.Glu21482=)
c.64245A>G (p.Glu21415=)
c.63870A>G (p.Glu21290=)
c.91065A>G (p.Glu30355=)
c.86142A>G (p.Glu28714=)
n.447-19465T>C
n.2043+9474T>C
c.90162A>G (p.Glu30054=)
c.64056A>G (p.Glu21352=)
c.63915A>G (p.Glu21305=)
c.89958A>G (p.Glu29986=)
c.85356A>G (p.Glu28452=)
c.85353A>G (p.Glu28451=)
c.82395A>G (p.Glu27465=)
c.64011A>G (p.Glu21337=)
c.85506A>G (p.Glu28502=)
c.85503A>G (p.Glu28501=)
c.84936A>G (p.Glu28312=)
c.82278A>G (p.Glu27426=)
c.82197A>G (p.Glu27399=)
c.63960A>G (p.Glu21320=)
c.53814A>G (p.Glu17938=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178551835T>GCA349504005TTN,TTN-AS1c.83361A>C (p.Glu27787Asp)
c.64446A>C (p.Glu21482Asp)
c.64245A>C (p.Glu21415Asp)
c.63870A>C (p.Glu21290Asp)
c.91065A>C (p.Glu30355Asp)
c.86142A>C (p.Glu28714Asp)
n.447-19465T>G
n.2043+9474T>G
c.90162A>C (p.Glu30054Asp)
c.64056A>C (p.Glu21352Asp)
c.63915A>C (p.Glu21305Asp)
c.89958A>C (p.Glu29986Asp)
c.85356A>C (p.Glu28452Asp)
c.85353A>C (p.Glu28451Asp)
c.82395A>C (p.Glu27465Asp)
c.64011A>C (p.Glu21337Asp)
c.85506A>C (p.Glu28502Asp)
c.85503A>C (p.Glu28501Asp)
c.84936A>C (p.Glu28312Asp)
c.82278A>C (p.Glu27426Asp)
c.82197A>C (p.Glu27399Asp)
c.63960A>C (p.Glu21320Asp)
c.53814A>C (p.Glu17938Asp)
2g.178551835T=CA1310521268TTN,TTN-AS1c.83361A= (p.Glu27787=)
c.64446A= (p.Glu21482=)
c.64245A= (p.Glu21415=)
c.63870A= (p.Glu21290=)
c.91065A= (p.Glu30355=)
c.86142A= (p.Glu28714=)
n.447-19465T=
n.2043+9474T=
c.90162A= (p.Glu30054=)
c.64056A= (p.Glu21352=)
c.63915A= (p.Glu21305=)
c.89958A= (p.Glu29986=)
c.85356A= (p.Glu28452=)
c.85353A= (p.Glu28451=)
c.82395A= (p.Glu27465=)
c.64011A= (p.Glu21337=)
c.85506A= (p.Glu28502=)
c.85503A= (p.Glu28501=)
c.84936A= (p.Glu28312=)
c.82278A= (p.Glu27426=)
c.82197A= (p.Glu27399=)
c.63960A= (p.Glu21320=)
c.53814A= (p.Glu17938=)
2g.178551836T>ACA349504011TTN,TTN-AS1c.83360A>T (p.Glu27787Val)
c.64445A>T (p.Glu21482Val)
c.64244A>T (p.Glu21415Val)
c.63869A>T (p.Glu21290Val)
c.91064A>T (p.Glu30355Val)
c.86141A>T (p.Glu28714Val)
n.447-19464T>A
n.2043+9475T>A
c.90161A>T (p.Glu30054Val)
c.64055A>T (p.Glu21352Val)
c.63914A>T (p.Glu21305Val)
c.89957A>T (p.Glu29986Val)
c.85355A>T (p.Glu28452Val)
c.85352A>T (p.Glu28451Val)
c.82394A>T (p.Glu27465Val)
c.64010A>T (p.Glu21337Val)
c.85505A>T (p.Glu28502Val)
c.85502A>T (p.Glu28501Val)
c.84935A>T (p.Glu28312Val)
c.82277A>T (p.Glu27426Val)
c.82196A>T (p.Glu27399Val)
c.63959A>T (p.Glu21320Val)
c.53813A>T (p.Glu17938Val)
2g.178551836T>CCA349504013TTN,TTN-AS1c.83360A>G (p.Glu27787Gly)
c.64445A>G (p.Glu21482Gly)
c.64244A>G (p.Glu21415Gly)
c.63869A>G (p.Glu21290Gly)
c.91064A>G (p.Glu30355Gly)
c.86141A>G (p.Glu28714Gly)
n.447-19464T>C
n.2043+9475T>C
c.90161A>G (p.Glu30054Gly)
c.64055A>G (p.Glu21352Gly)
c.63914A>G (p.Glu21305Gly)
c.89957A>G (p.Glu29986Gly)
c.85355A>G (p.Glu28452Gly)
c.85352A>G (p.Glu28451Gly)
c.82394A>G (p.Glu27465Gly)
c.64010A>G (p.Glu21337Gly)
c.85505A>G (p.Glu28502Gly)
c.85502A>G (p.Glu28501Gly)
c.84935A>G (p.Glu28312Gly)
c.82277A>G (p.Glu27426Gly)
c.82196A>G (p.Glu27399Gly)
c.63959A>G (p.Glu21320Gly)
c.53813A>G (p.Glu17938Gly)
2g.178551836T>GCA349504015TTN,TTN-AS1c.83360A>C (p.Glu27787Ala)
c.64445A>C (p.Glu21482Ala)
c.64244A>C (p.Glu21415Ala)
c.63869A>C (p.Glu21290Ala)
c.91064A>C (p.Glu30355Ala)
c.86141A>C (p.Glu28714Ala)
n.447-19464T>G
n.2043+9475T>G
c.90161A>C (p.Glu30054Ala)
c.64055A>C (p.Glu21352Ala)
c.63914A>C (p.Glu21305Ala)
c.89957A>C (p.Glu29986Ala)
c.85355A>C (p.Glu28452Ala)
c.85352A>C (p.Glu28451Ala)
c.82394A>C (p.Glu27465Ala)
c.64010A>C (p.Glu21337Ala)
c.85505A>C (p.Glu28502Ala)
c.85502A>C (p.Glu28501Ala)
c.84935A>C (p.Glu28312Ala)
c.82277A>C (p.Glu27426Ala)
c.82196A>C (p.Glu27399Ala)
c.63959A>C (p.Glu21320Ala)
c.53813A>C (p.Glu17938Ala)
2g.178551837C>ACA349504020TTN,TTN-AS1c.83359G>T (p.Glu27787Ter)
c.64444G>T (p.Glu21482Ter)
c.64243G>T (p.Glu21415Ter)
c.63868G>T (p.Glu21290Ter)
c.91063G>T (p.Glu30355Ter)
c.86140G>T (p.Glu28714Ter)
n.447-19463C>A
n.2043+9476C>A
c.90160G>T (p.Glu30054Ter)
c.64054G>T (p.Glu21352Ter)
c.63913G>T (p.Glu21305Ter)
c.89956G>T (p.Glu29986Ter)
c.85354G>T (p.Glu28452Ter)
c.85351G>T (p.Glu28451Ter)
c.82393G>T (p.Glu27465Ter)
c.64009G>T (p.Glu21337Ter)
c.85504G>T (p.Glu28502Ter)
c.85501G>T (p.Glu28501Ter)
c.84934G>T (p.Glu28312Ter)
c.82276G>T (p.Glu27426Ter)
c.82195G>T (p.Glu27399Ter)
c.63958G>T (p.Glu21320Ter)
c.53812G>T (p.Glu17938Ter)
2g.178551837C=CA1310521269TTN,TTN-AS1c.83359G= (p.Glu27787=)
c.64444G= (p.Glu21482=)
c.64243G= (p.Glu21415=)
c.63868G= (p.Glu21290=)
c.91063G= (p.Glu30355=)
c.86140G= (p.Glu28714=)
n.447-19463C=
n.2043+9476C=
c.90160G= (p.Glu30054=)
c.64054G= (p.Glu21352=)
c.63913G= (p.Glu21305=)
c.89956G= (p.Glu29986=)
c.85354G= (p.Glu28452=)
c.85351G= (p.Glu28451=)
c.82393G= (p.Glu27465=)
c.64009G= (p.Glu21337=)
c.85504G= (p.Glu28502=)
c.85501G= (p.Glu28501=)
c.84934G= (p.Glu28312=)
c.82276G= (p.Glu27426=)
c.82195G= (p.Glu27399=)
c.63958G= (p.Glu21320=)
c.53812G= (p.Glu17938=)
2g.178551837C>GCA349504030TTN,TTN-AS1c.83359G>C (p.Glu27787Gln)
c.64444G>C (p.Glu21482Gln)
c.64243G>C (p.Glu21415Gln)
c.63868G>C (p.Glu21290Gln)
c.91063G>C (p.Glu30355Gln)
c.86140G>C (p.Glu28714Gln)
n.447-19463C>G
n.2043+9476C>G
c.90160G>C (p.Glu30054Gln)
c.64054G>C (p.Glu21352Gln)
c.63913G>C (p.Glu21305Gln)
c.89956G>C (p.Glu29986Gln)
c.85354G>C (p.Glu28452Gln)
c.85351G>C (p.Glu28451Gln)
c.82393G>C (p.Glu27465Gln)
c.64009G>C (p.Glu21337Gln)
c.85504G>C (p.Glu28502Gln)
c.85501G>C (p.Glu28501Gln)
c.84934G>C (p.Glu28312Gln)
c.82276G>C (p.Glu27426Gln)
c.82195G>C (p.Glu27399Gln)
c.63958G>C (p.Glu21320Gln)
c.53812G>C (p.Glu17938Gln)
2g.178551837C>TCA349504034TTN,TTN-AS1c.83359G>A (p.Glu27787Lys)
c.64444G>A (p.Glu21482Lys)
c.64243G>A (p.Glu21415Lys)
c.63868G>A (p.Glu21290Lys)
c.91063G>A (p.Glu30355Lys)
c.86140G>A (p.Glu28714Lys)
n.447-19463C>T
n.2043+9476C>T
c.90160G>A (p.Glu30054Lys)
c.64054G>A (p.Glu21352Lys)
c.63913G>A (p.Glu21305Lys)
c.89956G>A (p.Glu29986Lys)
c.85354G>A (p.Glu28452Lys)
c.85351G>A (p.Glu28451Lys)
c.82393G>A (p.Glu27465Lys)
c.64009G>A (p.Glu21337Lys)
c.85504G>A (p.Glu28502Lys)
c.85501G>A (p.Glu28501Lys)
c.84934G>A (p.Glu28312Lys)
c.82276G>A (p.Glu27426Lys)
c.82195G>A (p.Glu27399Lys)
c.63958G>A (p.Glu21320Lys)
c.53812G>A (p.Glu17938Lys)
 dbSNP
2g.178551838T>ACA430245371TTN,TTN-AS1c.83358A>T (p.Ser27786=)
c.64443A>T (p.Ser21481=)
c.64242A>T (p.Ser21414=)
c.63867A>T (p.Ser21289=)
c.91062A>T (p.Ser30354=)
c.86139A>T (p.Ser28713=)
n.447-19462T>A
n.2043+9477T>A
c.90159A>T (p.Ser30053=)
c.64053A>T (p.Ser21351=)
c.63912A>T (p.Ser21304=)
c.89955A>T (p.Ser29985=)
c.85353A>T (p.Ser28451=)
c.85350A>T (p.Ser28450=)
c.82392A>T (p.Ser27464=)
c.64008A>T (p.Ser21336=)
c.85503A>T (p.Ser28501=)
c.85500A>T (p.Ser28500=)
c.84933A>T (p.Ser28311=)
c.82275A>T (p.Ser27425=)
c.82194A>T (p.Ser27398=)
c.63957A>T (p.Ser21319=)
c.53811A>T (p.Ser17937=)
2g.178551838T>CCA1987700TTN,TTN-AS1c.83358A>G (p.Ser27786=)
c.64443A>G (p.Ser21481=)
c.64242A>G (p.Ser21414=)
c.63867A>G (p.Ser21289=)
c.91062A>G (p.Ser30354=)
c.86139A>G (p.Ser28713=)
n.447-19462T>C
n.2043+9477T>C
c.90159A>G (p.Ser30053=)
c.64053A>G (p.Ser21351=)
c.63912A>G (p.Ser21304=)
c.89955A>G (p.Ser29985=)
c.85353A>G (p.Ser28451=)
c.85350A>G (p.Ser28450=)
c.82392A>G (p.Ser27464=)
c.64008A>G (p.Ser21336=)
c.85503A>G (p.Ser28501=)
c.85500A>G (p.Ser28500=)
c.84933A>G (p.Ser28311=)
c.82275A>G (p.Ser27425=)
c.82194A>G (p.Ser27398=)
c.63957A>G (p.Ser21319=)
c.53811A>G (p.Ser17937=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551838T>GCA430245376TTN,TTN-AS1c.83358A>C (p.Ser27786=)
c.64443A>C (p.Ser21481=)
c.64242A>C (p.Ser21414=)
c.63867A>C (p.Ser21289=)
c.91062A>C (p.Ser30354=)
c.86139A>C (p.Ser28713=)
n.447-19462T>G
n.2043+9477T>G
c.90159A>C (p.Ser30053=)
c.64053A>C (p.Ser21351=)
c.63912A>C (p.Ser21304=)
c.89955A>C (p.Ser29985=)
c.85353A>C (p.Ser28451=)
c.85350A>C (p.Ser28450=)
c.82392A>C (p.Ser27464=)
c.64008A>C (p.Ser21336=)
c.85503A>C (p.Ser28501=)
c.85500A>C (p.Ser28500=)
c.84933A>C (p.Ser28311=)
c.82275A>C (p.Ser27425=)
c.82194A>C (p.Ser27398=)
c.63957A>C (p.Ser21319=)
c.53811A>C (p.Ser17937=)
2g.178551838T=CA1310521271TTN,TTN-AS1c.83358A= (p.Ser27786=)
c.64443A= (p.Ser21481=)
c.64242A= (p.Ser21414=)
c.63867A= (p.Ser21289=)
c.91062A= (p.Ser30354=)
c.86139A= (p.Ser28713=)
n.447-19462T=
n.2043+9477T=
c.90159A= (p.Ser30053=)
c.64053A= (p.Ser21351=)
c.63912A= (p.Ser21304=)
c.89955A= (p.Ser29985=)
c.85353A= (p.Ser28451=)
c.85350A= (p.Ser28450=)
c.82392A= (p.Ser27464=)
c.64008A= (p.Ser21336=)
c.85503A= (p.Ser28501=)
c.85500A= (p.Ser28500=)
c.84933A= (p.Ser28311=)
c.82275A= (p.Ser27425=)
c.82194A= (p.Ser27398=)
c.63957A= (p.Ser21319=)
c.53811A= (p.Ser17937=)
2g.178551839G>ACA349504067TTN,TTN-AS1c.83357C>T (p.Ser27786Leu)
c.64442C>T (p.Ser21481Leu)
c.64241C>T (p.Ser21414Leu)
c.63866C>T (p.Ser21289Leu)
c.91061C>T (p.Ser30354Leu)
c.86138C>T (p.Ser28713Leu)
n.447-19461G>A
n.2043+9478G>A
c.90158C>T (p.Ser30053Leu)
c.64052C>T (p.Ser21351Leu)
c.63911C>T (p.Ser21304Leu)
c.89954C>T (p.Ser29985Leu)
c.85352C>T (p.Ser28451Leu)
c.85349C>T (p.Ser28450Leu)
c.82391C>T (p.Ser27464Leu)
c.64007C>T (p.Ser21336Leu)
c.85502C>T (p.Ser28501Leu)
c.85499C>T (p.Ser28500Leu)
c.84932C>T (p.Ser28311Leu)
c.82274C>T (p.Ser27425Leu)
c.82193C>T (p.Ser27398Leu)
c.63956C>T (p.Ser21319Leu)
c.53810C>T (p.Ser17937Leu)
2g.178551839G>CCA349504075TTN,TTN-AS1c.83357C>G (p.Ser27786Ter)
c.64442C>G (p.Ser21481Ter)
c.64241C>G (p.Ser21414Ter)
c.63866C>G (p.Ser21289Ter)
c.91061C>G (p.Ser30354Ter)
c.86138C>G (p.Ser28713Ter)
n.447-19461G>C
n.2043+9478G>C
c.90158C>G (p.Ser30053Ter)
c.64052C>G (p.Ser21351Ter)
c.63911C>G (p.Ser21304Ter)
c.89954C>G (p.Ser29985Ter)
c.85352C>G (p.Ser28451Ter)
c.85349C>G (p.Ser28450Ter)
c.82391C>G (p.Ser27464Ter)
c.64007C>G (p.Ser21336Ter)
c.85502C>G (p.Ser28501Ter)
c.85499C>G (p.Ser28500Ter)
c.84932C>G (p.Ser28311Ter)
c.82274C>G (p.Ser27425Ter)
c.82193C>G (p.Ser27398Ter)
c.63956C>G (p.Ser21319Ter)
c.53810C>G (p.Ser17937Ter)
2g.178551839G>TCA349504081TTN,TTN-AS1c.83357C>A (p.Ser27786Ter)
c.64442C>A (p.Ser21481Ter)
c.64241C>A (p.Ser21414Ter)
c.63866C>A (p.Ser21289Ter)
c.91061C>A (p.Ser30354Ter)
c.86138C>A (p.Ser28713Ter)
n.447-19461G>T
n.2043+9478G>T
c.90158C>A (p.Ser30053Ter)
c.64052C>A (p.Ser21351Ter)
c.63911C>A (p.Ser21304Ter)
c.89954C>A (p.Ser29985Ter)
c.85352C>A (p.Ser28451Ter)
c.85349C>A (p.Ser28450Ter)
c.82391C>A (p.Ser27464Ter)
c.64007C>A (p.Ser21336Ter)
c.85502C>A (p.Ser28501Ter)
c.85499C>A (p.Ser28500Ter)
c.84932C>A (p.Ser28311Ter)
c.82274C>A (p.Ser27425Ter)
c.82193C>A (p.Ser27398Ter)
c.63956C>A (p.Ser21319Ter)
c.53810C>A (p.Ser17937Ter)
2g.178551840A>CCA349504096TTN,TTN-AS1c.83356T>G (p.Ser27786Ala)
c.64441T>G (p.Ser21481Ala)
c.64240T>G (p.Ser21414Ala)
c.63865T>G (p.Ser21289Ala)
c.91060T>G (p.Ser30354Ala)
c.86137T>G (p.Ser28713Ala)
n.447-19460A>C
n.2043+9479A>C
c.90157T>G (p.Ser30053Ala)
c.64051T>G (p.Ser21351Ala)
c.63910T>G (p.Ser21304Ala)
c.89953T>G (p.Ser29985Ala)
c.85351T>G (p.Ser28451Ala)
c.85348T>G (p.Ser28450Ala)
c.82390T>G (p.Ser27464Ala)
c.64006T>G (p.Ser21336Ala)
c.85501T>G (p.Ser28501Ala)
c.85498T>G (p.Ser28500Ala)
c.84931T>G (p.Ser28311Ala)
c.82273T>G (p.Ser27425Ala)
c.82192T>G (p.Ser27398Ala)
c.63955T>G (p.Ser21319Ala)
c.53809T>G (p.Ser17937Ala)
 gnomAD v4
2g.178551840A>GCA349504090TTN,TTN-AS1c.83356T>C (p.Ser27786Pro)
c.64441T>C (p.Ser21481Pro)
c.64240T>C (p.Ser21414Pro)
c.63865T>C (p.Ser21289Pro)
c.91060T>C (p.Ser30354Pro)
c.86137T>C (p.Ser28713Pro)
n.447-19460A>G
n.2043+9479A>G
c.90157T>C (p.Ser30053Pro)
c.64051T>C (p.Ser21351Pro)
c.63910T>C (p.Ser21304Pro)
c.89953T>C (p.Ser29985Pro)
c.85351T>C (p.Ser28451Pro)
c.85348T>C (p.Ser28450Pro)
c.82390T>C (p.Ser27464Pro)
c.64006T>C (p.Ser21336Pro)
c.85501T>C (p.Ser28501Pro)
c.85498T>C (p.Ser28500Pro)
c.84931T>C (p.Ser28311Pro)
c.82273T>C (p.Ser27425Pro)
c.82192T>C (p.Ser27398Pro)
c.63955T>C (p.Ser21319Pro)
c.53809T>C (p.Ser17937Pro)
2g.178551840A>TCA349504093TTN,TTN-AS1c.83356T>A (p.Ser27786Thr)
c.64441T>A (p.Ser21481Thr)
c.64240T>A (p.Ser21414Thr)
c.63865T>A (p.Ser21289Thr)
c.91060T>A (p.Ser30354Thr)
c.86137T>A (p.Ser28713Thr)
n.447-19460A>T
n.2043+9479A>T
c.90157T>A (p.Ser30053Thr)
c.64051T>A (p.Ser21351Thr)
c.63910T>A (p.Ser21304Thr)
c.89953T>A (p.Ser29985Thr)
c.85351T>A (p.Ser28451Thr)
c.85348T>A (p.Ser28450Thr)
c.82390T>A (p.Ser27464Thr)
c.64006T>A (p.Ser21336Thr)
c.85501T>A (p.Ser28501Thr)
c.85498T>A (p.Ser28500Thr)
c.84931T>A (p.Ser28311Thr)
c.82273T>A (p.Ser27425Thr)
c.82192T>A (p.Ser27398Thr)
c.63955T>A (p.Ser21319Thr)
c.53809T>A (p.Ser17937Thr)
2g.178551841A>CCA430245380TTN,TTN-AS1c.83355T>G (p.Gly27785=)
c.64440T>G (p.Gly21480=)
c.64239T>G (p.Gly21413=)
c.63864T>G (p.Gly21288=)
c.91059T>G (p.Gly30353=)
c.86136T>G (p.Gly28712=)
n.447-19459A>C
n.2043+9480A>C
c.90156T>G (p.Gly30052=)
c.64050T>G (p.Gly21350=)
c.63909T>G (p.Gly21303=)
c.89952T>G (p.Gly29984=)
c.85350T>G (p.Gly28450=)
c.85347T>G (p.Gly28449=)
c.82389T>G (p.Gly27463=)
c.64005T>G (p.Gly21335=)
c.85500T>G (p.Gly28500=)
c.85497T>G (p.Gly28499=)
c.84930T>G (p.Gly28310=)
c.82272T>G (p.Gly27424=)
c.82191T>G (p.Gly27397=)
c.63954T>G (p.Gly21318=)
c.53808T>G (p.Gly17936=)
2g.178551841A>GCA430245382TTN,TTN-AS1c.83355T>C (p.Gly27785=)
c.64440T>C (p.Gly21480=)
c.64239T>C (p.Gly21413=)
c.63864T>C (p.Gly21288=)
c.91059T>C (p.Gly30353=)
c.86136T>C (p.Gly28712=)
n.447-19459A>G
n.2043+9480A>G
c.90156T>C (p.Gly30052=)
c.64050T>C (p.Gly21350=)
c.63909T>C (p.Gly21303=)
c.89952T>C (p.Gly29984=)
c.85350T>C (p.Gly28450=)
c.85347T>C (p.Gly28449=)
c.82389T>C (p.Gly27463=)
c.64005T>C (p.Gly21335=)
c.85500T>C (p.Gly28500=)
c.85497T>C (p.Gly28499=)
c.84930T>C (p.Gly28310=)
c.82272T>C (p.Gly27424=)
c.82191T>C (p.Gly27397=)
c.63954T>C (p.Gly21318=)
c.53808T>C (p.Gly17936=)
 gnomAD v4
2g.178551841A>TCA430245384TTN,TTN-AS1c.83355T>A (p.Gly27785=)
c.64440T>A (p.Gly21480=)
c.64239T>A (p.Gly21413=)
c.63864T>A (p.Gly21288=)
c.91059T>A (p.Gly30353=)
c.86136T>A (p.Gly28712=)
n.447-19459A>T
n.2043+9480A>T
c.90156T>A (p.Gly30052=)
c.64050T>A (p.Gly21350=)
c.63909T>A (p.Gly21303=)
c.89952T>A (p.Gly29984=)
c.85350T>A (p.Gly28450=)
c.85347T>A (p.Gly28449=)
c.82389T>A (p.Gly27463=)
c.64005T>A (p.Gly21335=)
c.85500T>A (p.Gly28500=)
c.85497T>A (p.Gly28499=)
c.84930T>A (p.Gly28310=)
c.82272T>A (p.Gly27424=)
c.82191T>A (p.Gly27397=)
c.63954T>A (p.Gly21318=)
c.53808T>A (p.Gly17936=)
2g.178551842C>ACA349504101TTN,TTN-AS1c.83354G>T (p.Gly27785Val)
c.64439G>T (p.Gly21480Val)
c.64238G>T (p.Gly21413Val)
c.63863G>T (p.Gly21288Val)
c.91058G>T (p.Gly30353Val)
c.86135G>T (p.Gly28712Val)
n.447-19458C>A
n.2043+9481C>A
c.90155G>T (p.Gly30052Val)
c.64049G>T (p.Gly21350Val)
c.63908G>T (p.Gly21303Val)
c.89951G>T (p.Gly29984Val)
c.85349G>T (p.Gly28450Val)
c.85346G>T (p.Gly28449Val)
c.82388G>T (p.Gly27463Val)
c.64004G>T (p.Gly21335Val)
c.85499G>T (p.Gly28500Val)
c.85496G>T (p.Gly28499Val)
c.84929G>T (p.Gly28310Val)
c.82271G>T (p.Gly27424Val)
c.82190G>T (p.Gly27397Val)
c.63953G>T (p.Gly21318Val)
c.53807G>T (p.Gly17936Val)
2g.178551842C=CA1310521273TTN,TTN-AS1c.83354G= (p.Gly27785=)
c.64439G= (p.Gly21480=)
c.64238G= (p.Gly21413=)
c.63863G= (p.Gly21288=)
c.91058G= (p.Gly30353=)
c.86135G= (p.Gly28712=)
n.447-19458C=
n.2043+9481C=
c.90155G= (p.Gly30052=)
c.64049G= (p.Gly21350=)
c.63908G= (p.Gly21303=)
c.89951G= (p.Gly29984=)
c.85349G= (p.Gly28450=)
c.85346G= (p.Gly28449=)
c.82388G= (p.Gly27463=)
c.64004G= (p.Gly21335=)
c.85499G= (p.Gly28500=)
c.85496G= (p.Gly28499=)
c.84929G= (p.Gly28310=)
c.82271G= (p.Gly27424=)
c.82190G= (p.Gly27397=)
c.63953G= (p.Gly21318=)
c.53807G= (p.Gly17936=)
2g.178551842C>GCA349504110TTN,TTN-AS1c.83354G>C (p.Gly27785Ala)
c.64439G>C (p.Gly21480Ala)
c.64238G>C (p.Gly21413Ala)
c.63863G>C (p.Gly21288Ala)
c.91058G>C (p.Gly30353Ala)
c.86135G>C (p.Gly28712Ala)
n.447-19458C>G
n.2043+9481C>G
c.90155G>C (p.Gly30052Ala)
c.64049G>C (p.Gly21350Ala)
c.63908G>C (p.Gly21303Ala)
c.89951G>C (p.Gly29984Ala)
c.85349G>C (p.Gly28450Ala)
c.85346G>C (p.Gly28449Ala)
c.82388G>C (p.Gly27463Ala)
c.64004G>C (p.Gly21335Ala)
c.85499G>C (p.Gly28500Ala)
c.85496G>C (p.Gly28499Ala)
c.84929G>C (p.Gly28310Ala)
c.82271G>C (p.Gly27424Ala)
c.82190G>C (p.Gly27397Ala)
c.63953G>C (p.Gly21318Ala)
c.53807G>C (p.Gly17936Ala)
2g.178551842C>TCA349504106TTN,TTN-AS1c.83354G>A (p.Gly27785Asp)
c.64439G>A (p.Gly21480Asp)
c.64238G>A (p.Gly21413Asp)
c.63863G>A (p.Gly21288Asp)
c.91058G>A (p.Gly30353Asp)
c.86135G>A (p.Gly28712Asp)
n.447-19458C>T
n.2043+9481C>T
c.90155G>A (p.Gly30052Asp)
c.64049G>A (p.Gly21350Asp)
c.63908G>A (p.Gly21303Asp)
c.89951G>A (p.Gly29984Asp)
c.85349G>A (p.Gly28450Asp)
c.85346G>A (p.Gly28449Asp)
c.82388G>A (p.Gly27463Asp)
c.64004G>A (p.Gly21335Asp)
c.85499G>A (p.Gly28500Asp)
c.85496G>A (p.Gly28499Asp)
c.84929G>A (p.Gly28310Asp)
c.82271G>A (p.Gly27424Asp)
c.82190G>A (p.Gly27397Asp)
c.63953G>A (p.Gly21318Asp)
c.53807G>A (p.Gly17936Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.178551843C>ACA349504113TTN,TTN-AS1c.83353G>T (p.Gly27785Cys)
c.64438G>T (p.Gly21480Cys)
c.64237G>T (p.Gly21413Cys)
c.63862G>T (p.Gly21288Cys)
c.91057G>T (p.Gly30353Cys)
c.86134G>T (p.Gly28712Cys)
n.447-19457C>A
n.2043+9482C>A
c.90154G>T (p.Gly30052Cys)
c.64048G>T (p.Gly21350Cys)
c.63907G>T (p.Gly21303Cys)
c.89950G>T (p.Gly29984Cys)
c.85348G>T (p.Gly28450Cys)
c.85345G>T (p.Gly28449Cys)
c.82387G>T (p.Gly27463Cys)
c.64003G>T (p.Gly21335Cys)
c.85498G>T (p.Gly28500Cys)
c.85495G>T (p.Gly28499Cys)
c.84928G>T (p.Gly28310Cys)
c.82270G>T (p.Gly27424Cys)
c.82189G>T (p.Gly27397Cys)
c.63952G>T (p.Gly21318Cys)
c.53806G>T (p.Gly17936Cys)
 gnomAD v4
2g.178551843C=CA1310521274TTN,TTN-AS1c.83353G= (p.Gly27785=)
c.64438G= (p.Gly21480=)
c.64237G= (p.Gly21413=)
c.63862G= (p.Gly21288=)
c.91057G= (p.Gly30353=)
c.86134G= (p.Gly28712=)
n.447-19457C=
n.2043+9482C=
c.90154G= (p.Gly30052=)
c.64048G= (p.Gly21350=)
c.63907G= (p.Gly21303=)
c.89950G= (p.Gly29984=)
c.85348G= (p.Gly28450=)
c.85345G= (p.Gly28449=)
c.82387G= (p.Gly27463=)
c.64003G= (p.Gly21335=)
c.85498G= (p.Gly28500=)
c.85495G= (p.Gly28499=)
c.84928G= (p.Gly28310=)
c.82270G= (p.Gly27424=)
c.82189G= (p.Gly27397=)
c.63952G= (p.Gly21318=)
c.53806G= (p.Gly17936=)
2g.178551843C>GCA1987701TTN,TTN-AS1c.83353G>C (p.Gly27785Arg)
c.64438G>C (p.Gly21480Arg)
c.64237G>C (p.Gly21413Arg)
c.63862G>C (p.Gly21288Arg)
c.91057G>C (p.Gly30353Arg)
c.86134G>C (p.Gly28712Arg)
n.447-19457C>G
n.2043+9482C>G
c.90154G>C (p.Gly30052Arg)
c.64048G>C (p.Gly21350Arg)
c.63907G>C (p.Gly21303Arg)
c.89950G>C (p.Gly29984Arg)
c.85348G>C (p.Gly28450Arg)
c.85345G>C (p.Gly28449Arg)
c.82387G>C (p.Gly27463Arg)
c.64003G>C (p.Gly21335Arg)
c.85498G>C (p.Gly28500Arg)
c.85495G>C (p.Gly28499Arg)
c.84928G>C (p.Gly28310Arg)
c.82270G>C (p.Gly27424Arg)
c.82189G>C (p.Gly27397Arg)
c.63952G>C (p.Gly21318Arg)
c.53806G>C (p.Gly17936Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551843C>TCA349504119TTN,TTN-AS1c.83353G>A (p.Gly27785Ser)
c.64438G>A (p.Gly21480Ser)
c.64237G>A (p.Gly21413Ser)
c.63862G>A (p.Gly21288Ser)
c.91057G>A (p.Gly30353Ser)
c.86134G>A (p.Gly28712Ser)
n.447-19457C>T
n.2043+9482C>T
c.90154G>A (p.Gly30052Ser)
c.64048G>A (p.Gly21350Ser)
c.63907G>A (p.Gly21303Ser)
c.89950G>A (p.Gly29984Ser)
c.85348G>A (p.Gly28450Ser)
c.85345G>A (p.Gly28449Ser)
c.82387G>A (p.Gly27463Ser)
c.64003G>A (p.Gly21335Ser)
c.85498G>A (p.Gly28500Ser)
c.85495G>A (p.Gly28499Ser)
c.84928G>A (p.Gly28310Ser)
c.82270G>A (p.Gly27424Ser)
c.82189G>A (p.Gly27397Ser)
c.63952G>A (p.Gly21318Ser)
c.53806G>A (p.Gly17936Ser)
2g.178551844A>CCA430245389TTN,TTN-AS1c.83352T>G (p.Gly27784=)
c.64437T>G (p.Gly21479=)
c.64236T>G (p.Gly21412=)
c.63861T>G (p.Gly21287=)
c.91056T>G (p.Gly30352=)
c.86133T>G (p.Gly28711=)
n.447-19456A>C
n.2043+9483A>C
c.90153T>G (p.Gly30051=)
c.64047T>G (p.Gly21349=)
c.63906T>G (p.Gly21302=)
c.89949T>G (p.Gly29983=)
c.85347T>G (p.Gly28449=)
c.85344T>G (p.Gly28448=)
c.82386T>G (p.Gly27462=)
c.64002T>G (p.Gly21334=)
c.85497T>G (p.Gly28499=)
c.85494T>G (p.Gly28498=)
c.84927T>G (p.Gly28309=)
c.82269T>G (p.Gly27423=)
c.82188T>G (p.Gly27396=)
c.63951T>G (p.Gly21317=)
c.53805T>G (p.Gly17935=)
2g.178551844A>GCA430245390TTN,TTN-AS1c.83352T>C (p.Gly27784=)
c.64437T>C (p.Gly21479=)
c.64236T>C (p.Gly21412=)
c.63861T>C (p.Gly21287=)
c.91056T>C (p.Gly30352=)
c.86133T>C (p.Gly28711=)
n.447-19456A>G
n.2043+9483A>G
c.90153T>C (p.Gly30051=)
c.64047T>C (p.Gly21349=)
c.63906T>C (p.Gly21302=)
c.89949T>C (p.Gly29983=)
c.85347T>C (p.Gly28449=)
c.85344T>C (p.Gly28448=)
c.82386T>C (p.Gly27462=)
c.64002T>C (p.Gly21334=)
c.85497T>C (p.Gly28499=)
c.85494T>C (p.Gly28498=)
c.84927T>C (p.Gly28309=)
c.82269T>C (p.Gly27423=)
c.82188T>C (p.Gly27396=)
c.63951T>C (p.Gly21317=)
c.53805T>C (p.Gly17935=)
2g.178551844A>TCA430245391TTN,TTN-AS1c.83352T>A (p.Gly27784=)
c.64437T>A (p.Gly21479=)
c.64236T>A (p.Gly21412=)
c.63861T>A (p.Gly21287=)
c.91056T>A (p.Gly30352=)
c.86133T>A (p.Gly28711=)
n.447-19456A>T
n.2043+9483A>T
c.90153T>A (p.Gly30051=)
c.64047T>A (p.Gly21349=)
c.63906T>A (p.Gly21302=)
c.89949T>A (p.Gly29983=)
c.85347T>A (p.Gly28449=)
c.85344T>A (p.Gly28448=)
c.82386T>A (p.Gly27462=)
c.64002T>A (p.Gly21334=)
c.85497T>A (p.Gly28499=)
c.85494T>A (p.Gly28498=)
c.84927T>A (p.Gly28309=)
c.82269T>A (p.Gly27423=)
c.82188T>A (p.Gly27396=)
c.63951T>A (p.Gly21317=)
c.53805T>A (p.Gly17935=)
2g.178551845C>ACA349504127TTN,TTN-AS1c.83351G>T (p.Gly27784Val)
c.64436G>T (p.Gly21479Val)
c.64235G>T (p.Gly21412Val)
c.63860G>T (p.Gly21287Val)
c.91055G>T (p.Gly30352Val)
c.86132G>T (p.Gly28711Val)
n.447-19455C>A
n.2043+9484C>A
c.90152G>T (p.Gly30051Val)
c.64046G>T (p.Gly21349Val)
c.63905G>T (p.Gly21302Val)
c.89948G>T (p.Gly29983Val)
c.85346G>T (p.Gly28449Val)
c.85343G>T (p.Gly28448Val)
c.82385G>T (p.Gly27462Val)
c.64001G>T (p.Gly21334Val)
c.85496G>T (p.Gly28499Val)
c.85493G>T (p.Gly28498Val)
c.84926G>T (p.Gly28309Val)
c.82268G>T (p.Gly27423Val)
c.82187G>T (p.Gly27396Val)
c.63950G>T (p.Gly21317Val)
c.53804G>T (p.Gly17935Val)
2g.178551845C=CA1310521276TTN,TTN-AS1c.83351G= (p.Gly27784=)
c.64436G= (p.Gly21479=)
c.64235G= (p.Gly21412=)
c.63860G= (p.Gly21287=)
c.91055G= (p.Gly30352=)
c.86132G= (p.Gly28711=)
n.447-19455C=
n.2043+9484C=
c.90152G= (p.Gly30051=)
c.64046G= (p.Gly21349=)
c.63905G= (p.Gly21302=)
c.89948G= (p.Gly29983=)
c.85346G= (p.Gly28449=)
c.85343G= (p.Gly28448=)
c.82385G= (p.Gly27462=)
c.64001G= (p.Gly21334=)
c.85496G= (p.Gly28499=)
c.85493G= (p.Gly28498=)
c.84926G= (p.Gly28309=)
c.82268G= (p.Gly27423=)
c.82187G= (p.Gly27396=)
c.63950G= (p.Gly21317=)
c.53804G= (p.Gly17935=)
2g.178551845C>GCA349504130TTN,TTN-AS1c.83351G>C (p.Gly27784Ala)
c.64436G>C (p.Gly21479Ala)
c.64235G>C (p.Gly21412Ala)
c.63860G>C (p.Gly21287Ala)
c.91055G>C (p.Gly30352Ala)
c.86132G>C (p.Gly28711Ala)
n.447-19455C>G
n.2043+9484C>G
c.90152G>C (p.Gly30051Ala)
c.64046G>C (p.Gly21349Ala)
c.63905G>C (p.Gly21302Ala)
c.89948G>C (p.Gly29983Ala)
c.85346G>C (p.Gly28449Ala)
c.85343G>C (p.Gly28448Ala)
c.82385G>C (p.Gly27462Ala)
c.64001G>C (p.Gly21334Ala)
c.85496G>C (p.Gly28499Ala)
c.85493G>C (p.Gly28498Ala)
c.84926G>C (p.Gly28309Ala)
c.82268G>C (p.Gly27423Ala)
c.82187G>C (p.Gly27396Ala)
c.63950G>C (p.Gly21317Ala)
c.53804G>C (p.Gly17935Ala)
2g.178551845C>TCA349504134TTN,TTN-AS1c.83351G>A (p.Gly27784Asp)
c.64436G>A (p.Gly21479Asp)
c.64235G>A (p.Gly21412Asp)
c.63860G>A (p.Gly21287Asp)
c.91055G>A (p.Gly30352Asp)
c.86132G>A (p.Gly28711Asp)
n.447-19455C>T
n.2043+9484C>T
c.90152G>A (p.Gly30051Asp)
c.64046G>A (p.Gly21349Asp)
c.63905G>A (p.Gly21302Asp)
c.89948G>A (p.Gly29983Asp)
c.85346G>A (p.Gly28449Asp)
c.85343G>A (p.Gly28448Asp)
c.82385G>A (p.Gly27462Asp)
c.64001G>A (p.Gly21334Asp)
c.85496G>A (p.Gly28499Asp)
c.85493G>A (p.Gly28498Asp)
c.84926G>A (p.Gly28309Asp)
c.82268G>A (p.Gly27423Asp)
c.82187G>A (p.Gly27396Asp)
c.63950G>A (p.Gly21317Asp)
c.53804G>A (p.Gly17935Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178551846C>ACA349504135TTN,TTN-AS1c.83350G>T (p.Gly27784Cys)
c.64435G>T (p.Gly21479Cys)
c.64234G>T (p.Gly21412Cys)
c.63859G>T (p.Gly21287Cys)
c.91054G>T (p.Gly30352Cys)
c.86131G>T (p.Gly28711Cys)
n.447-19454C>A
n.2043+9485C>A
c.90151G>T (p.Gly30051Cys)
c.64045G>T (p.Gly21349Cys)
c.63904G>T (p.Gly21302Cys)
c.89947G>T (p.Gly29983Cys)
c.85345G>T (p.Gly28449Cys)
c.85342G>T (p.Gly28448Cys)
c.82384G>T (p.Gly27462Cys)
c.64000G>T (p.Gly21334Cys)
c.85495G>T (p.Gly28499Cys)
c.85492G>T (p.Gly28498Cys)
c.84925G>T (p.Gly28309Cys)
c.82267G>T (p.Gly27423Cys)
c.82186G>T (p.Gly27396Cys)
c.63949G>T (p.Gly21317Cys)
c.53803G>T (p.Gly17935Cys)
2g.178551846C>GCA349504138TTN,TTN-AS1c.83350G>C (p.Gly27784Arg)
c.64435G>C (p.Gly21479Arg)
c.64234G>C (p.Gly21412Arg)
c.63859G>C (p.Gly21287Arg)
c.91054G>C (p.Gly30352Arg)
c.86131G>C (p.Gly28711Arg)
n.447-19454C>G
n.2043+9485C>G
c.90151G>C (p.Gly30051Arg)
c.64045G>C (p.Gly21349Arg)
c.63904G>C (p.Gly21302Arg)
c.89947G>C (p.Gly29983Arg)
c.85345G>C (p.Gly28449Arg)
c.85342G>C (p.Gly28448Arg)
c.82384G>C (p.Gly27462Arg)
c.64000G>C (p.Gly21334Arg)
c.85495G>C (p.Gly28499Arg)
c.85492G>C (p.Gly28498Arg)
c.84925G>C (p.Gly28309Arg)
c.82267G>C (p.Gly27423Arg)
c.82186G>C (p.Gly27396Arg)
c.63949G>C (p.Gly21317Arg)
c.53803G>C (p.Gly17935Arg)
2g.178551846C>TCA349504143TTN,TTN-AS1c.83350G>A (p.Gly27784Ser)
c.64435G>A (p.Gly21479Ser)
c.64234G>A (p.Gly21412Ser)
c.63859G>A (p.Gly21287Ser)
c.91054G>A (p.Gly30352Ser)
c.86131G>A (p.Gly28711Ser)
n.447-19454C>T
n.2043+9485C>T
c.90151G>A (p.Gly30051Ser)
c.64045G>A (p.Gly21349Ser)
c.63904G>A (p.Gly21302Ser)
c.89947G>A (p.Gly29983Ser)
c.85345G>A (p.Gly28449Ser)
c.85342G>A (p.Gly28448Ser)
c.82384G>A (p.Gly27462Ser)
c.64000G>A (p.Gly21334Ser)
c.85495G>A (p.Gly28499Ser)
c.85492G>A (p.Gly28498Ser)
c.84925G>A (p.Gly28309Ser)
c.82267G>A (p.Gly27423Ser)
c.82186G>A (p.Gly27396Ser)
c.63949G>A (p.Gly21317Ser)
c.53803G>A (p.Gly17935Ser)

Number of alleles fetched