Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.178551847A=CA1310521278TTN,TTN-AS1c.83349T= (p.Asp27783=)
c.64434T= (p.Asp21478=)
c.64233T= (p.Asp21411=)
c.63858T= (p.Asp21286=)
c.91053T= (p.Asp30351=)
c.86130T= (p.Asp28710=)
n.447-19453A=
n.2043+9486A=
c.90150T= (p.Asp30050=)
c.64044T= (p.Asp21348=)
c.63903T= (p.Asp21301=)
c.89946T= (p.Asp29982=)
c.85344T= (p.Asp28448=)
c.85341T= (p.Asp28447=)
c.82383T= (p.Asp27461=)
c.63999T= (p.Asp21333=)
c.85494T= (p.Asp28498=)
c.85491T= (p.Asp28497=)
c.84924T= (p.Asp28308=)
c.82266T= (p.Asp27422=)
c.82185T= (p.Asp27395=)
c.63948T= (p.Asp21316=)
c.53802T= (p.Asp17934=)
2g.178551847A>CCA349504148TTN,TTN-AS1c.83349T>G (p.Asp27783Glu)
c.64434T>G (p.Asp21478Glu)
c.64233T>G (p.Asp21411Glu)
c.63858T>G (p.Asp21286Glu)
c.91053T>G (p.Asp30351Glu)
c.86130T>G (p.Asp28710Glu)
n.447-19453A>C
n.2043+9486A>C
c.90150T>G (p.Asp30050Glu)
c.64044T>G (p.Asp21348Glu)
c.63903T>G (p.Asp21301Glu)
c.89946T>G (p.Asp29982Glu)
c.85344T>G (p.Asp28448Glu)
c.85341T>G (p.Asp28447Glu)
c.82383T>G (p.Asp27461Glu)
c.63999T>G (p.Asp21333Glu)
c.85494T>G (p.Asp28498Glu)
c.85491T>G (p.Asp28497Glu)
c.84924T>G (p.Asp28308Glu)
c.82266T>G (p.Asp27422Glu)
c.82185T>G (p.Asp27395Glu)
c.63948T>G (p.Asp21316Glu)
c.53802T>G (p.Asp17934Glu)
2g.178551847A>GCA60977256TTN,TTN-AS1c.83349T>C (p.Asp27783=)
c.64434T>C (p.Asp21478=)
c.64233T>C (p.Asp21411=)
c.63858T>C (p.Asp21286=)
c.91053T>C (p.Asp30351=)
c.86130T>C (p.Asp28710=)
n.447-19453A>G
n.2043+9486A>G
c.90150T>C (p.Asp30050=)
c.64044T>C (p.Asp21348=)
c.63903T>C (p.Asp21301=)
c.89946T>C (p.Asp29982=)
c.85344T>C (p.Asp28448=)
c.85341T>C (p.Asp28447=)
c.82383T>C (p.Asp27461=)
c.63999T>C (p.Asp21333=)
c.85494T>C (p.Asp28498=)
c.85491T>C (p.Asp28497=)
c.84924T>C (p.Asp28308=)
c.82266T>C (p.Asp27422=)
c.82185T>C (p.Asp27395=)
c.63948T>C (p.Asp21316=)
c.53802T>C (p.Asp17934=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178551847A>TCA349504158TTN,TTN-AS1c.83349T>A (p.Asp27783Glu)
c.64434T>A (p.Asp21478Glu)
c.64233T>A (p.Asp21411Glu)
c.63858T>A (p.Asp21286Glu)
c.91053T>A (p.Asp30351Glu)
c.86130T>A (p.Asp28710Glu)
n.447-19453A>T
n.2043+9486A>T
c.90150T>A (p.Asp30050Glu)
c.64044T>A (p.Asp21348Glu)
c.63903T>A (p.Asp21301Glu)
c.89946T>A (p.Asp29982Glu)
c.85344T>A (p.Asp28448Glu)
c.85341T>A (p.Asp28447Glu)
c.82383T>A (p.Asp27461Glu)
c.63999T>A (p.Asp21333Glu)
c.85494T>A (p.Asp28498Glu)
c.85491T>A (p.Asp28497Glu)
c.84924T>A (p.Asp28308Glu)
c.82266T>A (p.Asp27422Glu)
c.82185T>A (p.Asp27395Glu)
c.63948T>A (p.Asp21316Glu)
c.53802T>A (p.Asp17934Glu)
2g.178551848T>ACA349504182TTN,TTN-AS1c.83348A>T (p.Asp27783Val)
c.64433A>T (p.Asp21478Val)
c.64232A>T (p.Asp21411Val)
c.63857A>T (p.Asp21286Val)
c.91052A>T (p.Asp30351Val)
c.86129A>T (p.Asp28710Val)
n.447-19452T>A
n.2043+9487T>A
c.90149A>T (p.Asp30050Val)
c.64043A>T (p.Asp21348Val)
c.63902A>T (p.Asp21301Val)
c.89945A>T (p.Asp29982Val)
c.85343A>T (p.Asp28448Val)
c.85340A>T (p.Asp28447Val)
c.82382A>T (p.Asp27461Val)
c.63998A>T (p.Asp21333Val)
c.85493A>T (p.Asp28498Val)
c.85490A>T (p.Asp28497Val)
c.84923A>T (p.Asp28308Val)
c.82265A>T (p.Asp27422Val)
c.82184A>T (p.Asp27395Val)
c.63947A>T (p.Asp21316Val)
c.53801A>T (p.Asp17934Val)
 gnomAD v4
2g.178551848T>CCA349504172TTN,TTN-AS1c.83348A>G (p.Asp27783Gly)
c.64433A>G (p.Asp21478Gly)
c.64232A>G (p.Asp21411Gly)
c.63857A>G (p.Asp21286Gly)
c.91052A>G (p.Asp30351Gly)
c.86129A>G (p.Asp28710Gly)
n.447-19452T>C
n.2043+9487T>C
c.90149A>G (p.Asp30050Gly)
c.64043A>G (p.Asp21348Gly)
c.63902A>G (p.Asp21301Gly)
c.89945A>G (p.Asp29982Gly)
c.85343A>G (p.Asp28448Gly)
c.85340A>G (p.Asp28447Gly)
c.82382A>G (p.Asp27461Gly)
c.63998A>G (p.Asp21333Gly)
c.85493A>G (p.Asp28498Gly)
c.85490A>G (p.Asp28497Gly)
c.84923A>G (p.Asp28308Gly)
c.82265A>G (p.Asp27422Gly)
c.82184A>G (p.Asp27395Gly)
c.63947A>G (p.Asp21316Gly)
c.53801A>G (p.Asp17934Gly)
2g.178551848T>GCA349504181TTN,TTN-AS1c.83348A>C (p.Asp27783Ala)
c.64433A>C (p.Asp21478Ala)
c.64232A>C (p.Asp21411Ala)
c.63857A>C (p.Asp21286Ala)
c.91052A>C (p.Asp30351Ala)
c.86129A>C (p.Asp28710Ala)
n.447-19452T>G
n.2043+9487T>G
c.90149A>C (p.Asp30050Ala)
c.64043A>C (p.Asp21348Ala)
c.63902A>C (p.Asp21301Ala)
c.89945A>C (p.Asp29982Ala)
c.85343A>C (p.Asp28448Ala)
c.85340A>C (p.Asp28447Ala)
c.82382A>C (p.Asp27461Ala)
c.63998A>C (p.Asp21333Ala)
c.85493A>C (p.Asp28498Ala)
c.85490A>C (p.Asp28497Ala)
c.84923A>C (p.Asp28308Ala)
c.82265A>C (p.Asp27422Ala)
c.82184A>C (p.Asp27395Ala)
c.63947A>C (p.Asp21316Ala)
c.53801A>C (p.Asp17934Ala)
2g.178551849C>ACA349504183TTN,TTN-AS1c.83347G>T (p.Asp27783Tyr)
c.64432G>T (p.Asp21478Tyr)
c.64231G>T (p.Asp21411Tyr)
c.63856G>T (p.Asp21286Tyr)
c.91051G>T (p.Asp30351Tyr)
c.86128G>T (p.Asp28710Tyr)
n.447-19451C>A
n.2043+9488C>A
c.90148G>T (p.Asp30050Tyr)
c.64042G>T (p.Asp21348Tyr)
c.63901G>T (p.Asp21301Tyr)
c.89944G>T (p.Asp29982Tyr)
c.85342G>T (p.Asp28448Tyr)
c.85339G>T (p.Asp28447Tyr)
c.82381G>T (p.Asp27461Tyr)
c.63997G>T (p.Asp21333Tyr)
c.85492G>T (p.Asp28498Tyr)
c.85489G>T (p.Asp28497Tyr)
c.84922G>T (p.Asp28308Tyr)
c.82264G>T (p.Asp27422Tyr)
c.82183G>T (p.Asp27395Tyr)
c.63946G>T (p.Asp21316Tyr)
c.53800G>T (p.Asp17934Tyr)
2g.178551849C=CA1310521280TTN,TTN-AS1c.83347G= (p.Asp27783=)
c.64432G= (p.Asp21478=)
c.64231G= (p.Asp21411=)
c.63856G= (p.Asp21286=)
c.91051G= (p.Asp30351=)
c.86128G= (p.Asp28710=)
n.447-19451C=
n.2043+9488C=
c.90148G= (p.Asp30050=)
c.64042G= (p.Asp21348=)
c.63901G= (p.Asp21301=)
c.89944G= (p.Asp29982=)
c.85342G= (p.Asp28448=)
c.85339G= (p.Asp28447=)
c.82381G= (p.Asp27461=)
c.63997G= (p.Asp21333=)
c.85492G= (p.Asp28498=)
c.85489G= (p.Asp28497=)
c.84922G= (p.Asp28308=)
c.82264G= (p.Asp27422=)
c.82183G= (p.Asp27395=)
c.63946G= (p.Asp21316=)
c.53800G= (p.Asp17934=)
2g.178551849C>GCA349504186TTN,TTN-AS1c.83347G>C (p.Asp27783His)
c.64432G>C (p.Asp21478His)
c.64231G>C (p.Asp21411His)
c.63856G>C (p.Asp21286His)
c.91051G>C (p.Asp30351His)
c.86128G>C (p.Asp28710His)
n.447-19451C>G
n.2043+9488C>G
c.90148G>C (p.Asp30050His)
c.64042G>C (p.Asp21348His)
c.63901G>C (p.Asp21301His)
c.89944G>C (p.Asp29982His)
c.85342G>C (p.Asp28448His)
c.85339G>C (p.Asp28447His)
c.82381G>C (p.Asp27461His)
c.63997G>C (p.Asp21333His)
c.85492G>C (p.Asp28498His)
c.85489G>C (p.Asp28497His)
c.84922G>C (p.Asp28308His)
c.82264G>C (p.Asp27422His)
c.82183G>C (p.Asp27395His)
c.63946G>C (p.Asp21316His)
c.53800G>C (p.Asp17934His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178551849C>TCA349504189TTN,TTN-AS1c.83347G>A (p.Asp27783Asn)
c.64432G>A (p.Asp21478Asn)
c.64231G>A (p.Asp21411Asn)
c.63856G>A (p.Asp21286Asn)
c.91051G>A (p.Asp30351Asn)
c.86128G>A (p.Asp28710Asn)
n.447-19451C>T
n.2043+9488C>T
c.90148G>A (p.Asp30050Asn)
c.64042G>A (p.Asp21348Asn)
c.63901G>A (p.Asp21301Asn)
c.89944G>A (p.Asp29982Asn)
c.85342G>A (p.Asp28448Asn)
c.85339G>A (p.Asp28447Asn)
c.82381G>A (p.Asp27461Asn)
c.63997G>A (p.Asp21333Asn)
c.85492G>A (p.Asp28498Asn)
c.85489G>A (p.Asp28497Asn)
c.84922G>A (p.Asp28308Asn)
c.82264G>A (p.Asp27422Asn)
c.82183G>A (p.Asp27395Asn)
c.63946G>A (p.Asp21316Asn)
c.53800G>A (p.Asp17934Asn)
2g.178551850A>CCA349504190TTN,TTN-AS1c.83346T>G (p.Tyr27782Ter)
c.64431T>G (p.Tyr21477Ter)
c.64230T>G (p.Tyr21410Ter)
c.63855T>G (p.Tyr21285Ter)
c.91050T>G (p.Tyr30350Ter)
c.86127T>G (p.Tyr28709Ter)
n.447-19450A>C
n.2043+9489A>C
c.90147T>G (p.Tyr30049Ter)
c.64041T>G (p.Tyr21347Ter)
c.63900T>G (p.Tyr21300Ter)
c.89943T>G (p.Tyr29981Ter)
c.85341T>G (p.Tyr28447Ter)
c.85338T>G (p.Tyr28446Ter)
c.82380T>G (p.Tyr27460Ter)
c.63996T>G (p.Tyr21332Ter)
c.85491T>G (p.Tyr28497Ter)
c.85488T>G (p.Tyr28496Ter)
c.84921T>G (p.Tyr28307Ter)
c.82263T>G (p.Tyr27421Ter)
c.82182T>G (p.Tyr27394Ter)
c.63945T>G (p.Tyr21315Ter)
c.53799T>G (p.Tyr17933Ter)
2g.178551850A>GCA430245402TTN,TTN-AS1c.83346T>C (p.Tyr27782=)
c.64431T>C (p.Tyr21477=)
c.64230T>C (p.Tyr21410=)
c.63855T>C (p.Tyr21285=)
c.91050T>C (p.Tyr30350=)
c.86127T>C (p.Tyr28709=)
n.447-19450A>G
n.2043+9489A>G
c.90147T>C (p.Tyr30049=)
c.64041T>C (p.Tyr21347=)
c.63900T>C (p.Tyr21300=)
c.89943T>C (p.Tyr29981=)
c.85341T>C (p.Tyr28447=)
c.85338T>C (p.Tyr28446=)
c.82380T>C (p.Tyr27460=)
c.63996T>C (p.Tyr21332=)
c.85491T>C (p.Tyr28497=)
c.85488T>C (p.Tyr28496=)
c.84921T>C (p.Tyr28307=)
c.82263T>C (p.Tyr27421=)
c.82182T>C (p.Tyr27394=)
c.63945T>C (p.Tyr21315=)
c.53799T>C (p.Tyr17933=)
 gnomAD v4
2g.178551850A>TCA349504192TTN,TTN-AS1c.83346T>A (p.Tyr27782Ter)
c.64431T>A (p.Tyr21477Ter)
c.64230T>A (p.Tyr21410Ter)
c.63855T>A (p.Tyr21285Ter)
c.91050T>A (p.Tyr30350Ter)
c.86127T>A (p.Tyr28709Ter)
n.447-19450A>T
n.2043+9489A>T
c.90147T>A (p.Tyr30049Ter)
c.64041T>A (p.Tyr21347Ter)
c.63900T>A (p.Tyr21300Ter)
c.89943T>A (p.Tyr29981Ter)
c.85341T>A (p.Tyr28447Ter)
c.85338T>A (p.Tyr28446Ter)
c.82380T>A (p.Tyr27460Ter)
c.63996T>A (p.Tyr21332Ter)
c.85491T>A (p.Tyr28497Ter)
c.85488T>A (p.Tyr28496Ter)
c.84921T>A (p.Tyr28307Ter)
c.82263T>A (p.Tyr27421Ter)
c.82182T>A (p.Tyr27394Ter)
c.63945T>A (p.Tyr21315Ter)
c.53799T>A (p.Tyr17933Ter)
2g.178551851T>ACA349504194TTN,TTN-AS1c.83345A>T (p.Tyr27782Phe)
c.64430A>T (p.Tyr21477Phe)
c.64229A>T (p.Tyr21410Phe)
c.63854A>T (p.Tyr21285Phe)
c.91049A>T (p.Tyr30350Phe)
c.86126A>T (p.Tyr28709Phe)
n.447-19449T>A
n.2043+9490T>A
c.90146A>T (p.Tyr30049Phe)
c.64040A>T (p.Tyr21347Phe)
c.63899A>T (p.Tyr21300Phe)
c.89942A>T (p.Tyr29981Phe)
c.85340A>T (p.Tyr28447Phe)
c.85337A>T (p.Tyr28446Phe)
c.82379A>T (p.Tyr27460Phe)
c.63995A>T (p.Tyr21332Phe)
c.85490A>T (p.Tyr28497Phe)
c.85487A>T (p.Tyr28496Phe)
c.84920A>T (p.Tyr28307Phe)
c.82262A>T (p.Tyr27421Phe)
c.82181A>T (p.Tyr27394Phe)
c.63944A>T (p.Tyr21315Phe)
c.53798A>T (p.Tyr17933Phe)

Number of alleles fetched