Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178551835T>A | CA349504003 | TTN,TTN-AS1 | c.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) | |
2 | g.178551835T>C | CA16603868 | TTN,TTN-AS1 | c.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 |
2 | g.178551835T>G | CA349504005 | TTN,TTN-AS1 | c.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) | |
2 | g.178551835T= | CA1310521268 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551836T>A | CA349504011 | TTN,TTN-AS1 | c.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) | |
2 | g.178551836T>C | CA349504013 | TTN,TTN-AS1 | c.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) | |
2 | g.178551836T>G | CA349504015 | TTN,TTN-AS1 | c.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) | |
2 | g.178551837C>A | CA349504020 | TTN,TTN-AS1 | c.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) | |
2 | g.178551837C= | CA1310521269 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551837C>G | CA349504030 | TTN,TTN-AS1 | c.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) | |
2 | g.178551837C>T | CA349504034 | TTN,TTN-AS1 | c.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 |
2 | g.178551838T>A | CA430245371 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551838T>C | CA1987700 | TTN,TTN-AS1 | c.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 |
2 | g.178551838T>G | CA430245376 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551838T= | CA1310521271 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551839G>A | CA349504067 | TTN,TTN-AS1 | c.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) | |
2 | g.178551839G>C | CA349504075 | TTN,TTN-AS1 | c.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) | |
2 | g.178551839G>T | CA349504081 | TTN,TTN-AS1 | c.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) | |
2 | g.178551840A>C | CA349504096 | TTN,TTN-AS1 | c.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 |
2 | g.178551840A>G | CA349504090 | TTN,TTN-AS1 | c.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) | |
2 | g.178551840A>T | CA349504093 | TTN,TTN-AS1 | c.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) | |
2 | g.178551841A>C | CA430245380 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551841A>G | CA430245382 | TTN,TTN-AS1 | c.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 |
2 | g.178551841A>T | CA430245384 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551842C>A | CA349504101 | TTN,TTN-AS1 | c.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) | |
2 | g.178551842C= | CA1310521273 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551842C>G | CA349504110 | TTN,TTN-AS1 | c.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) | |
2 | g.178551842C>T | CA349504106 | TTN,TTN-AS1 | c.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 |
2 | g.178551843C>A | CA349504113 | TTN,TTN-AS1 | c.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 |
2 | g.178551843C= | CA1310521274 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551843C>G | CA1987701 | TTN,TTN-AS1 | c.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 |
2 | g.178551843C>T | CA349504119 | TTN,TTN-AS1 | c.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) | |
2 | g.178551844A>C | CA430245389 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551844A>G | CA430245390 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551844A>T | CA430245391 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551845C>A | CA349504127 | TTN,TTN-AS1 | c.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) | |
2 | g.178551845C= | CA1310521276 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551845C>G | CA349504130 | TTN,TTN-AS1 | c.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) | |
2 | g.178551845C>T | CA349504134 | TTN,TTN-AS1 | c.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 |
2 | g.178551846C>A | CA349504135 | TTN,TTN-AS1 | c.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) | |
2 | g.178551846C>G | CA349504138 | TTN,TTN-AS1 | c.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) | |
2 | g.178551846C>T | CA349504143 | TTN,TTN-AS1 | c.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) | |
2 | g.178551847A= | CA1310521278 | TTN,TTN-AS1 | c.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=) | |
2 | g.178551847A>C | CA349504148 | TTN,TTN-AS1 | c.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) | |
2 | g.178551847A>G | CA60977256 | TTN,TTN-AS1 | c.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 |
2 | g.178551847A>T | CA349504158 | TTN,TTN-AS1 | c.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) | |
2 | g.178551848T>A | CA349504182 | TTN,TTN-AS1 | c.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 |
2 | g.178551848T>C | CA349504172 | TTN,TTN-AS1 | c.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) | |
2 | g.178551848T>G | CA349504181 | TTN,TTN-AS1 | c.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) | |
2 | g.178551849C>A | CA349504183 | TTN,TTN-AS1 | c.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) |