Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178543255C>ACA349445779TTN,TTN-AS1c.89014G>T (p.Glu29672Ter)
c.70099G>T (p.Glu23367Ter)
c.69898G>T (p.Glu23300Ter)
c.69523G>T (p.Glu23175Ter)
c.96718G>T (p.Glu32240Ter)
c.91795G>T (p.Glu30599Ter)
n.446+19619C>A
n.2043+894C>A
c.95815G>T (p.Glu31939Ter)
c.69709G>T (p.Glu23237Ter)
c.69568G>T (p.Glu23190Ter)
c.95611G>T (p.Glu31871Ter)
c.91009G>T (p.Glu30337Ter)
c.91006G>T (p.Glu30336Ter)
c.88048G>T (p.Glu29350Ter)
c.69664G>T (p.Glu23222Ter)
c.91159G>T (p.Glu30387Ter)
c.91156G>T (p.Glu30386Ter)
c.90589G>T (p.Glu30197Ter)
c.87931G>T (p.Glu29311Ter)
c.87850G>T (p.Glu29284Ter)
c.69613G>T (p.Glu23205Ter)
c.59467G>T (p.Glu19823Ter)
2g.178543255C=CA1310520580TTN,TTN-AS1c.89014G= (p.Glu29672=)
c.70099G= (p.Glu23367=)
c.69898G= (p.Glu23300=)
c.69523G= (p.Glu23175=)
c.96718G= (p.Glu32240=)
c.91795G= (p.Glu30599=)
n.446+19619C=
n.2043+894C=
c.95815G= (p.Glu31939=)
c.69709G= (p.Glu23237=)
c.69568G= (p.Glu23190=)
c.95611G= (p.Glu31871=)
c.91009G= (p.Glu30337=)
c.91006G= (p.Glu30336=)
c.88048G= (p.Glu29350=)
c.69664G= (p.Glu23222=)
c.91159G= (p.Glu30387=)
c.91156G= (p.Glu30386=)
c.90589G= (p.Glu30197=)
c.87931G= (p.Glu29311=)
c.87850G= (p.Glu29284=)
c.69613G= (p.Glu23205=)
c.59467G= (p.Glu19823=)
2g.178543255C>GCA349445780TTN,TTN-AS1c.89014G>C (p.Glu29672Gln)
c.70099G>C (p.Glu23367Gln)
c.69898G>C (p.Glu23300Gln)
c.69523G>C (p.Glu23175Gln)
c.96718G>C (p.Glu32240Gln)
c.91795G>C (p.Glu30599Gln)
n.446+19619C>G
n.2043+894C>G
c.95815G>C (p.Glu31939Gln)
c.69709G>C (p.Glu23237Gln)
c.69568G>C (p.Glu23190Gln)
c.95611G>C (p.Glu31871Gln)
c.91009G>C (p.Glu30337Gln)
c.91006G>C (p.Glu30336Gln)
c.88048G>C (p.Glu29350Gln)
c.69664G>C (p.Glu23222Gln)
c.91159G>C (p.Glu30387Gln)
c.91156G>C (p.Glu30386Gln)
c.90589G>C (p.Glu30197Gln)
c.87931G>C (p.Glu29311Gln)
c.87850G>C (p.Glu29284Gln)
c.69613G>C (p.Glu23205Gln)
c.59467G>C (p.Glu19823Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543255C>TCA1986718TTN,TTN-AS1c.89014G>A (p.Glu29672Lys)
c.70099G>A (p.Glu23367Lys)
c.69898G>A (p.Glu23300Lys)
c.69523G>A (p.Glu23175Lys)
c.96718G>A (p.Glu32240Lys)
c.91795G>A (p.Glu30599Lys)
n.446+19619C>T
n.2043+894C>T
c.95815G>A (p.Glu31939Lys)
c.69709G>A (p.Glu23237Lys)
c.69568G>A (p.Glu23190Lys)
c.95611G>A (p.Glu31871Lys)
c.91009G>A (p.Glu30337Lys)
c.91006G>A (p.Glu30336Lys)
c.88048G>A (p.Glu29350Lys)
c.69664G>A (p.Glu23222Lys)
c.91159G>A (p.Glu30387Lys)
c.91156G>A (p.Glu30386Lys)
c.90589G>A (p.Glu30197Lys)
c.87931G>A (p.Glu29311Lys)
c.87850G>A (p.Glu29284Lys)
c.69613G>A (p.Glu23205Lys)
c.59467G>A (p.Glu19823Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543256G>ACA430241266TTN,TTN-AS1c.89013C>T (p.Leu29671=)
c.70098C>T (p.Leu23366=)
c.69897C>T (p.Leu23299=)
c.69522C>T (p.Leu23174=)
c.96717C>T (p.Leu32239=)
c.91794C>T (p.Leu30598=)
n.446+19620G>A
n.2043+895G>A
c.95814C>T (p.Leu31938=)
c.69708C>T (p.Leu23236=)
c.69567C>T (p.Leu23189=)
c.95610C>T (p.Leu31870=)
c.91008C>T (p.Leu30336=)
c.91005C>T (p.Leu30335=)
c.88047C>T (p.Leu29349=)
c.69663C>T (p.Leu23221=)
c.91158C>T (p.Leu30386=)
c.91155C>T (p.Leu30385=)
c.90588C>T (p.Leu30196=)
c.87930C>T (p.Leu29310=)
c.87849C>T (p.Leu29283=)
c.69612C>T (p.Leu23204=)
c.59466C>T (p.Leu19822=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543256G>CCA430241268TTN,TTN-AS1c.89013C>G (p.Leu29671=)
c.70098C>G (p.Leu23366=)
c.69897C>G (p.Leu23299=)
c.69522C>G (p.Leu23174=)
c.96717C>G (p.Leu32239=)
c.91794C>G (p.Leu30598=)
n.446+19620G>C
n.2043+895G>C
c.95814C>G (p.Leu31938=)
c.69708C>G (p.Leu23236=)
c.69567C>G (p.Leu23189=)
c.95610C>G (p.Leu31870=)
c.91008C>G (p.Leu30336=)
c.91005C>G (p.Leu30335=)
c.88047C>G (p.Leu29349=)
c.69663C>G (p.Leu23221=)
c.91158C>G (p.Leu30386=)
c.91155C>G (p.Leu30385=)
c.90588C>G (p.Leu30196=)
c.87930C>G (p.Leu29310=)
c.87849C>G (p.Leu29283=)
c.69612C>G (p.Leu23204=)
c.59466C>G (p.Leu19822=)
2g.178543256G=CA1310520585TTN,TTN-AS1c.89013C= (p.Leu29671=)
c.70098C= (p.Leu23366=)
c.69897C= (p.Leu23299=)
c.69522C= (p.Leu23174=)
c.96717C= (p.Leu32239=)
c.91794C= (p.Leu30598=)
n.446+19620G=
n.2043+895G=
c.95814C= (p.Leu31938=)
c.69708C= (p.Leu23236=)
c.69567C= (p.Leu23189=)
c.95610C= (p.Leu31870=)
c.91008C= (p.Leu30336=)
c.91005C= (p.Leu30335=)
c.88047C= (p.Leu29349=)
c.69663C= (p.Leu23221=)
c.91158C= (p.Leu30386=)
c.91155C= (p.Leu30385=)
c.90588C= (p.Leu30196=)
c.87930C= (p.Leu29310=)
c.87849C= (p.Leu29283=)
c.69612C= (p.Leu23204=)
c.59466C= (p.Leu19822=)
2g.178543256G>TCA430241267TTN,TTN-AS1c.89013C>A (p.Leu29671=)
c.70098C>A (p.Leu23366=)
c.69897C>A (p.Leu23299=)
c.69522C>A (p.Leu23174=)
c.96717C>A (p.Leu32239=)
c.91794C>A (p.Leu30598=)
n.446+19620G>T
n.2043+895G>T
c.95814C>A (p.Leu31938=)
c.69708C>A (p.Leu23236=)
c.69567C>A (p.Leu23189=)
c.95610C>A (p.Leu31870=)
c.91008C>A (p.Leu30336=)
c.91005C>A (p.Leu30335=)
c.88047C>A (p.Leu29349=)
c.69663C>A (p.Leu23221=)
c.91158C>A (p.Leu30386=)
c.91155C>A (p.Leu30385=)
c.90588C>A (p.Leu30196=)
c.87930C>A (p.Leu29310=)
c.87849C>A (p.Leu29283=)
c.69612C>A (p.Leu23204=)
c.59466C>A (p.Leu19822=)
2g.178543257A>CCA349445784TTN,TTN-AS1c.89012T>G (p.Leu29671Arg)
c.70097T>G (p.Leu23366Arg)
c.69896T>G (p.Leu23299Arg)
c.69521T>G (p.Leu23174Arg)
c.96716T>G (p.Leu32239Arg)
c.91793T>G (p.Leu30598Arg)
n.446+19621A>C
n.2043+896A>C
c.95813T>G (p.Leu31938Arg)
c.69707T>G (p.Leu23236Arg)
c.69566T>G (p.Leu23189Arg)
c.95609T>G (p.Leu31870Arg)
c.91007T>G (p.Leu30336Arg)
c.91004T>G (p.Leu30335Arg)
c.88046T>G (p.Leu29349Arg)
c.69662T>G (p.Leu23221Arg)
c.91157T>G (p.Leu30386Arg)
c.91154T>G (p.Leu30385Arg)
c.90587T>G (p.Leu30196Arg)
c.87929T>G (p.Leu29310Arg)
c.87848T>G (p.Leu29283Arg)
c.69611T>G (p.Leu23204Arg)
c.59465T>G (p.Leu19822Arg)
2g.178543257A>GCA349445787TTN,TTN-AS1c.89012T>C (p.Leu29671Pro)
c.70097T>C (p.Leu23366Pro)
c.69896T>C (p.Leu23299Pro)
c.69521T>C (p.Leu23174Pro)
c.96716T>C (p.Leu32239Pro)
c.91793T>C (p.Leu30598Pro)
n.446+19621A>G
n.2043+896A>G
c.95813T>C (p.Leu31938Pro)
c.69707T>C (p.Leu23236Pro)
c.69566T>C (p.Leu23189Pro)
c.95609T>C (p.Leu31870Pro)
c.91007T>C (p.Leu30336Pro)
c.91004T>C (p.Leu30335Pro)
c.88046T>C (p.Leu29349Pro)
c.69662T>C (p.Leu23221Pro)
c.91157T>C (p.Leu30386Pro)
c.91154T>C (p.Leu30385Pro)
c.90587T>C (p.Leu30196Pro)
c.87929T>C (p.Leu29310Pro)
c.87848T>C (p.Leu29283Pro)
c.69611T>C (p.Leu23204Pro)
c.59465T>C (p.Leu19822Pro)
 gnomAD v4
2g.178543257A>TCA349445789TTN,TTN-AS1c.89012T>A (p.Leu29671His)
c.70097T>A (p.Leu23366His)
c.69896T>A (p.Leu23299His)
c.69521T>A (p.Leu23174His)
c.96716T>A (p.Leu32239His)
c.91793T>A (p.Leu30598His)
n.446+19621A>T
n.2043+896A>T
c.95813T>A (p.Leu31938His)
c.69707T>A (p.Leu23236His)
c.69566T>A (p.Leu23189His)
c.95609T>A (p.Leu31870His)
c.91007T>A (p.Leu30336His)
c.91004T>A (p.Leu30335His)
c.88046T>A (p.Leu29349His)
c.69662T>A (p.Leu23221His)
c.91157T>A (p.Leu30386His)
c.91154T>A (p.Leu30385His)
c.90587T>A (p.Leu30196His)
c.87929T>A (p.Leu29310His)
c.87848T>A (p.Leu29283His)
c.69611T>A (p.Leu23204His)
c.59465T>A (p.Leu19822His)
2g.178543258G>ACA16610210TTN,TTN-AS1c.89011C>T (p.Leu29671Phe)
c.70096C>T (p.Leu23366Phe)
c.69895C>T (p.Leu23299Phe)
c.69520C>T (p.Leu23174Phe)
c.96715C>T (p.Leu32239Phe)
c.91792C>T (p.Leu30598Phe)
n.446+19622G>A
n.2043+897G>A
c.95812C>T (p.Leu31938Phe)
c.69706C>T (p.Leu23236Phe)
c.69565C>T (p.Leu23189Phe)
c.95608C>T (p.Leu31870Phe)
c.91006C>T (p.Leu30336Phe)
c.91003C>T (p.Leu30335Phe)
c.88045C>T (p.Leu29349Phe)
c.69661C>T (p.Leu23221Phe)
c.91156C>T (p.Leu30386Phe)
c.91153C>T (p.Leu30385Phe)
c.90586C>T (p.Leu30196Phe)
c.87928C>T (p.Leu29310Phe)
c.87847C>T (p.Leu29283Phe)
c.69610C>T (p.Leu23204Phe)
c.59464C>T (p.Leu19822Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543258G>CCA349445793TTN,TTN-AS1c.89011C>G (p.Leu29671Val)
c.70096C>G (p.Leu23366Val)
c.69895C>G (p.Leu23299Val)
c.69520C>G (p.Leu23174Val)
c.96715C>G (p.Leu32239Val)
c.91792C>G (p.Leu30598Val)
n.446+19622G>C
n.2043+897G>C
c.95812C>G (p.Leu31938Val)
c.69706C>G (p.Leu23236Val)
c.69565C>G (p.Leu23189Val)
c.95608C>G (p.Leu31870Val)
c.91006C>G (p.Leu30336Val)
c.91003C>G (p.Leu30335Val)
c.88045C>G (p.Leu29349Val)
c.69661C>G (p.Leu23221Val)
c.91156C>G (p.Leu30386Val)
c.91153C>G (p.Leu30385Val)
c.90586C>G (p.Leu30196Val)
c.87928C>G (p.Leu29310Val)
c.87847C>G (p.Leu29283Val)
c.69610C>G (p.Leu23204Val)
c.59464C>G (p.Leu19822Val)
2g.178543258G=CA1310520589TTN,TTN-AS1c.89011C= (p.Leu29671=)
c.70096C= (p.Leu23366=)
c.69895C= (p.Leu23299=)
c.69520C= (p.Leu23174=)
c.96715C= (p.Leu32239=)
c.91792C= (p.Leu30598=)
n.446+19622G=
n.2043+897G=
c.95812C= (p.Leu31938=)
c.69706C= (p.Leu23236=)
c.69565C= (p.Leu23189=)
c.95608C= (p.Leu31870=)
c.91006C= (p.Leu30336=)
c.91003C= (p.Leu30335=)
c.88045C= (p.Leu29349=)
c.69661C= (p.Leu23221=)
c.91156C= (p.Leu30386=)
c.91153C= (p.Leu30385=)
c.90586C= (p.Leu30196=)
c.87928C= (p.Leu29310=)
c.87847C= (p.Leu29283=)
c.69610C= (p.Leu23204=)
c.59464C= (p.Leu19822=)
2g.178543258G>TCA349445791TTN,TTN-AS1c.89011C>A (p.Leu29671Ile)
c.70096C>A (p.Leu23366Ile)
c.69895C>A (p.Leu23299Ile)
c.69520C>A (p.Leu23174Ile)
c.96715C>A (p.Leu32239Ile)
c.91792C>A (p.Leu30598Ile)
n.446+19622G>T
n.2043+897G>T
c.95812C>A (p.Leu31938Ile)
c.69706C>A (p.Leu23236Ile)
c.69565C>A (p.Leu23189Ile)
c.95608C>A (p.Leu31870Ile)
c.91006C>A (p.Leu30336Ile)
c.91003C>A (p.Leu30335Ile)
c.88045C>A (p.Leu29349Ile)
c.69661C>A (p.Leu23221Ile)
c.91156C>A (p.Leu30386Ile)
c.91153C>A (p.Leu30385Ile)
c.90586C>A (p.Leu30196Ile)
c.87928C>A (p.Leu29310Ile)
c.87847C>A (p.Leu29283Ile)
c.69610C>A (p.Leu23204Ile)
c.59464C>A (p.Leu19822Ile)
2g.178543259A=CA1310520594TTN,TTN-AS1c.89010T= (p.Val29670=)
c.70095T= (p.Val23365=)
c.69894T= (p.Val23298=)
c.69519T= (p.Val23173=)
c.96714T= (p.Val32238=)
c.91791T= (p.Val30597=)
n.446+19623A=
n.2043+898A=
c.95811T= (p.Val31937=)
c.69705T= (p.Val23235=)
c.69564T= (p.Val23188=)
c.95607T= (p.Val31869=)
c.91005T= (p.Val30335=)
c.91002T= (p.Val30334=)
c.88044T= (p.Val29348=)
c.69660T= (p.Val23220=)
c.91155T= (p.Val30385=)
c.91152T= (p.Val30384=)
c.90585T= (p.Val30195=)
c.87927T= (p.Val29309=)
c.87846T= (p.Val29282=)
c.69609T= (p.Val23203=)
c.59463T= (p.Val19821=)
2g.178543259A>CCA430241269TTN,TTN-AS1c.89010T>G (p.Val29670=)
c.70095T>G (p.Val23365=)
c.69894T>G (p.Val23298=)
c.69519T>G (p.Val23173=)
c.96714T>G (p.Val32238=)
c.91791T>G (p.Val30597=)
n.446+19623A>C
n.2043+898A>C
c.95811T>G (p.Val31937=)
c.69705T>G (p.Val23235=)
c.69564T>G (p.Val23188=)
c.95607T>G (p.Val31869=)
c.91005T>G (p.Val30335=)
c.91002T>G (p.Val30334=)
c.88044T>G (p.Val29348=)
c.69660T>G (p.Val23220=)
c.91155T>G (p.Val30385=)
c.91152T>G (p.Val30384=)
c.90585T>G (p.Val30195=)
c.87927T>G (p.Val29309=)
c.87846T>G (p.Val29282=)
c.69609T>G (p.Val23203=)
c.59463T>G (p.Val19821=)
 dbSNP
2g.178543259A>GCA1986719TTN,TTN-AS1c.89010T>C (p.Val29670=)
c.70095T>C (p.Val23365=)
c.69894T>C (p.Val23298=)
c.69519T>C (p.Val23173=)
c.96714T>C (p.Val32238=)
c.91791T>C (p.Val30597=)
n.446+19623A>G
n.2043+898A>G
c.95811T>C (p.Val31937=)
c.69705T>C (p.Val23235=)
c.69564T>C (p.Val23188=)
c.95607T>C (p.Val31869=)
c.91005T>C (p.Val30335=)
c.91002T>C (p.Val30334=)
c.88044T>C (p.Val29348=)
c.69660T>C (p.Val23220=)
c.91155T>C (p.Val30385=)
c.91152T>C (p.Val30384=)
c.90585T>C (p.Val30195=)
c.87927T>C (p.Val29309=)
c.87846T>C (p.Val29282=)
c.69609T>C (p.Val23203=)
c.59463T>C (p.Val19821=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543259A>TCA430241270TTN,TTN-AS1c.89010T>A (p.Val29670=)
c.70095T>A (p.Val23365=)
c.69894T>A (p.Val23298=)
c.69519T>A (p.Val23173=)
c.96714T>A (p.Val32238=)
c.91791T>A (p.Val30597=)
n.446+19623A>T
n.2043+898A>T
c.95811T>A (p.Val31937=)
c.69705T>A (p.Val23235=)
c.69564T>A (p.Val23188=)
c.95607T>A (p.Val31869=)
c.91005T>A (p.Val30335=)
c.91002T>A (p.Val30334=)
c.88044T>A (p.Val29348=)
c.69660T>A (p.Val23220=)
c.91155T>A (p.Val30385=)
c.91152T>A (p.Val30384=)
c.90585T>A (p.Val30195=)
c.87927T>A (p.Val29309=)
c.87846T>A (p.Val29282=)
c.69609T>A (p.Val23203=)
c.59463T>A (p.Val19821=)
2g.178543260A>CCA349445802TTN,TTN-AS1c.89009T>G (p.Val29670Gly)
c.70094T>G (p.Val23365Gly)
c.69893T>G (p.Val23298Gly)
c.69518T>G (p.Val23173Gly)
c.96713T>G (p.Val32238Gly)
c.91790T>G (p.Val30597Gly)
n.446+19624A>C
n.2043+899A>C
c.95810T>G (p.Val31937Gly)
c.69704T>G (p.Val23235Gly)
c.69563T>G (p.Val23188Gly)
c.95606T>G (p.Val31869Gly)
c.91004T>G (p.Val30335Gly)
c.91001T>G (p.Val30334Gly)
c.88043T>G (p.Val29348Gly)
c.69659T>G (p.Val23220Gly)
c.91154T>G (p.Val30385Gly)
c.91151T>G (p.Val30384Gly)
c.90584T>G (p.Val30195Gly)
c.87926T>G (p.Val29309Gly)
c.87845T>G (p.Val29282Gly)
c.69608T>G (p.Val23203Gly)
c.59462T>G (p.Val19821Gly)
2g.178543260A>GCA349445803TTN,TTN-AS1c.89009T>C (p.Val29670Ala)
c.70094T>C (p.Val23365Ala)
c.69893T>C (p.Val23298Ala)
c.69518T>C (p.Val23173Ala)
c.96713T>C (p.Val32238Ala)
c.91790T>C (p.Val30597Ala)
n.446+19624A>G
n.2043+899A>G
c.95810T>C (p.Val31937Ala)
c.69704T>C (p.Val23235Ala)
c.69563T>C (p.Val23188Ala)
c.95606T>C (p.Val31869Ala)
c.91004T>C (p.Val30335Ala)
c.91001T>C (p.Val30334Ala)
c.88043T>C (p.Val29348Ala)
c.69659T>C (p.Val23220Ala)
c.91154T>C (p.Val30385Ala)
c.91151T>C (p.Val30384Ala)
c.90584T>C (p.Val30195Ala)
c.87926T>C (p.Val29309Ala)
c.87845T>C (p.Val29282Ala)
c.69608T>C (p.Val23203Ala)
c.59462T>C (p.Val19821Ala)
 gnomAD v4
2g.178543260A>TCA349445804TTN,TTN-AS1c.89009T>A (p.Val29670Asp)
c.70094T>A (p.Val23365Asp)
c.69893T>A (p.Val23298Asp)
c.69518T>A (p.Val23173Asp)
c.96713T>A (p.Val32238Asp)
c.91790T>A (p.Val30597Asp)
n.446+19624A>T
n.2043+899A>T
c.95810T>A (p.Val31937Asp)
c.69704T>A (p.Val23235Asp)
c.69563T>A (p.Val23188Asp)
c.95606T>A (p.Val31869Asp)
c.91004T>A (p.Val30335Asp)
c.91001T>A (p.Val30334Asp)
c.88043T>A (p.Val29348Asp)
c.69659T>A (p.Val23220Asp)
c.91154T>A (p.Val30385Asp)
c.91151T>A (p.Val30384Asp)
c.90584T>A (p.Val30195Asp)
c.87926T>A (p.Val29309Asp)
c.87845T>A (p.Val29282Asp)
c.69608T>A (p.Val23203Asp)
c.59462T>A (p.Val19821Asp)
2g.178543261C>ACA349445807TTN,TTN-AS1c.89008G>T (p.Val29670Phe)
c.70093G>T (p.Val23365Phe)
c.69892G>T (p.Val23298Phe)
c.69517G>T (p.Val23173Phe)
c.96712G>T (p.Val32238Phe)
c.91789G>T (p.Val30597Phe)
n.446+19625C>A
n.2043+900C>A
c.95809G>T (p.Val31937Phe)
c.69703G>T (p.Val23235Phe)
c.69562G>T (p.Val23188Phe)
c.95605G>T (p.Val31869Phe)
c.91003G>T (p.Val30335Phe)
c.91000G>T (p.Val30334Phe)
c.88042G>T (p.Val29348Phe)
c.69658G>T (p.Val23220Phe)
c.91153G>T (p.Val30385Phe)
c.91150G>T (p.Val30384Phe)
c.90583G>T (p.Val30195Phe)
c.87925G>T (p.Val29309Phe)
c.87844G>T (p.Val29282Phe)
c.69607G>T (p.Val23203Phe)
c.59461G>T (p.Val19821Phe)
2g.178543261C=CA1310520596TTN,TTN-AS1c.89008G= (p.Val29670=)
c.70093G= (p.Val23365=)
c.69892G= (p.Val23298=)
c.69517G= (p.Val23173=)
c.96712G= (p.Val32238=)
c.91789G= (p.Val30597=)
n.446+19625C=
n.2043+900C=
c.95809G= (p.Val31937=)
c.69703G= (p.Val23235=)
c.69562G= (p.Val23188=)
c.95605G= (p.Val31869=)
c.91003G= (p.Val30335=)
c.91000G= (p.Val30334=)
c.88042G= (p.Val29348=)
c.69658G= (p.Val23220=)
c.91153G= (p.Val30385=)
c.91150G= (p.Val30384=)
c.90583G= (p.Val30195=)
c.87925G= (p.Val29309=)
c.87844G= (p.Val29282=)
c.69607G= (p.Val23203=)
c.59461G= (p.Val19821=)
2g.178543261C>GCA1986720TTN,TTN-AS1c.89008G>C (p.Val29670Leu)
c.70093G>C (p.Val23365Leu)
c.69892G>C (p.Val23298Leu)
c.69517G>C (p.Val23173Leu)
c.96712G>C (p.Val32238Leu)
c.91789G>C (p.Val30597Leu)
n.446+19625C>G
n.2043+900C>G
c.95809G>C (p.Val31937Leu)
c.69703G>C (p.Val23235Leu)
c.69562G>C (p.Val23188Leu)
c.95605G>C (p.Val31869Leu)
c.91003G>C (p.Val30335Leu)
c.91000G>C (p.Val30334Leu)
c.88042G>C (p.Val29348Leu)
c.69658G>C (p.Val23220Leu)
c.91153G>C (p.Val30385Leu)
c.91150G>C (p.Val30384Leu)
c.90583G>C (p.Val30195Leu)
c.87925G>C (p.Val29309Leu)
c.87844G>C (p.Val29282Leu)
c.69607G>C (p.Val23203Leu)
c.59461G>C (p.Val19821Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543261C>TCA349445809TTN,TTN-AS1c.89008G>A (p.Val29670Ile)
c.70093G>A (p.Val23365Ile)
c.69892G>A (p.Val23298Ile)
c.69517G>A (p.Val23173Ile)
c.96712G>A (p.Val32238Ile)
c.91789G>A (p.Val30597Ile)
n.446+19625C>T
n.2043+900C>T
c.95809G>A (p.Val31937Ile)
c.69703G>A (p.Val23235Ile)
c.69562G>A (p.Val23188Ile)
c.95605G>A (p.Val31869Ile)
c.91003G>A (p.Val30335Ile)
c.91000G>A (p.Val30334Ile)
c.88042G>A (p.Val29348Ile)
c.69658G>A (p.Val23220Ile)
c.91153G>A (p.Val30385Ile)
c.91150G>A (p.Val30384Ile)
c.90583G>A (p.Val30195Ile)
c.87925G>A (p.Val29309Ile)
c.87844G>A (p.Val29282Ile)
c.69607G>A (p.Val23203Ile)
c.59461G>A (p.Val19821Ile)
2g.178543262A=CA1310520598TTN,TTN-AS1c.89007T= (p.Tyr29669=)
c.70092T= (p.Tyr23364=)
c.69891T= (p.Tyr23297=)
c.69516T= (p.Tyr23172=)
c.96711T= (p.Tyr32237=)
c.91788T= (p.Tyr30596=)
n.446+19626A=
n.2043+901A=
c.95808T= (p.Tyr31936=)
c.69702T= (p.Tyr23234=)
c.69561T= (p.Tyr23187=)
c.95604T= (p.Tyr31868=)
c.91002T= (p.Tyr30334=)
c.90999T= (p.Tyr30333=)
c.88041T= (p.Tyr29347=)
c.69657T= (p.Tyr23219=)
c.91152T= (p.Tyr30384=)
c.91149T= (p.Tyr30383=)
c.90582T= (p.Tyr30194=)
c.87924T= (p.Tyr29308=)
c.87843T= (p.Tyr29281=)
c.69606T= (p.Tyr23202=)
c.59460T= (p.Tyr19820=)
2g.178543262A>CCA349445812TTN,TTN-AS1c.89007T>G (p.Tyr29669Ter)
c.70092T>G (p.Tyr23364Ter)
c.69891T>G (p.Tyr23297Ter)
c.69516T>G (p.Tyr23172Ter)
c.96711T>G (p.Tyr32237Ter)
c.91788T>G (p.Tyr30596Ter)
n.446+19626A>C
n.2043+901A>C
c.95808T>G (p.Tyr31936Ter)
c.69702T>G (p.Tyr23234Ter)
c.69561T>G (p.Tyr23187Ter)
c.95604T>G (p.Tyr31868Ter)
c.91002T>G (p.Tyr30334Ter)
c.90999T>G (p.Tyr30333Ter)
c.88041T>G (p.Tyr29347Ter)
c.69657T>G (p.Tyr23219Ter)
c.91152T>G (p.Tyr30384Ter)
c.91149T>G (p.Tyr30383Ter)
c.90582T>G (p.Tyr30194Ter)
c.87924T>G (p.Tyr29308Ter)
c.87843T>G (p.Tyr29281Ter)
c.69606T>G (p.Tyr23202Ter)
c.59460T>G (p.Tyr19820Ter)
2g.178543262A>GCA1986721TTN,TTN-AS1c.89007T>C (p.Tyr29669=)
c.70092T>C (p.Tyr23364=)
c.69891T>C (p.Tyr23297=)
c.69516T>C (p.Tyr23172=)
c.96711T>C (p.Tyr32237=)
c.91788T>C (p.Tyr30596=)
n.446+19626A>G
n.2043+901A>G
c.95808T>C (p.Tyr31936=)
c.69702T>C (p.Tyr23234=)
c.69561T>C (p.Tyr23187=)
c.95604T>C (p.Tyr31868=)
c.91002T>C (p.Tyr30334=)
c.90999T>C (p.Tyr30333=)
c.88041T>C (p.Tyr29347=)
c.69657T>C (p.Tyr23219=)
c.91152T>C (p.Tyr30384=)
c.91149T>C (p.Tyr30383=)
c.90582T>C (p.Tyr30194=)
c.87924T>C (p.Tyr29308=)
c.87843T>C (p.Tyr29281=)
c.69606T>C (p.Tyr23202=)
c.59460T>C (p.Tyr19820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543262A>TCA349445813TTN,TTN-AS1c.89007T>A (p.Tyr29669Ter)
c.70092T>A (p.Tyr23364Ter)
c.69891T>A (p.Tyr23297Ter)
c.69516T>A (p.Tyr23172Ter)
c.96711T>A (p.Tyr32237Ter)
c.91788T>A (p.Tyr30596Ter)
n.446+19626A>T
n.2043+901A>T
c.95808T>A (p.Tyr31936Ter)
c.69702T>A (p.Tyr23234Ter)
c.69561T>A (p.Tyr23187Ter)
c.95604T>A (p.Tyr31868Ter)
c.91002T>A (p.Tyr30334Ter)
c.90999T>A (p.Tyr30333Ter)
c.88041T>A (p.Tyr29347Ter)
c.69657T>A (p.Tyr23219Ter)
c.91152T>A (p.Tyr30384Ter)
c.91149T>A (p.Tyr30383Ter)
c.90582T>A (p.Tyr30194Ter)
c.87924T>A (p.Tyr29308Ter)
c.87843T>A (p.Tyr29281Ter)
c.69606T>A (p.Tyr23202Ter)
c.59460T>A (p.Tyr19820Ter)
2g.178543263T>ACA349445814TTN,TTN-AS1c.89006A>T (p.Tyr29669Phe)
c.70091A>T (p.Tyr23364Phe)
c.69890A>T (p.Tyr23297Phe)
c.69515A>T (p.Tyr23172Phe)
c.96710A>T (p.Tyr32237Phe)
c.91787A>T (p.Tyr30596Phe)
n.446+19627T>A
n.2043+902T>A
c.95807A>T (p.Tyr31936Phe)
c.69701A>T (p.Tyr23234Phe)
c.69560A>T (p.Tyr23187Phe)
c.95603A>T (p.Tyr31868Phe)
c.91001A>T (p.Tyr30334Phe)
c.90998A>T (p.Tyr30333Phe)
c.88040A>T (p.Tyr29347Phe)
c.69656A>T (p.Tyr23219Phe)
c.91151A>T (p.Tyr30384Phe)
c.91148A>T (p.Tyr30383Phe)
c.90581A>T (p.Tyr30194Phe)
c.87923A>T (p.Tyr29308Phe)
c.87842A>T (p.Tyr29281Phe)
c.69605A>T (p.Tyr23202Phe)
c.59459A>T (p.Tyr19820Phe)
2g.178543263T>CCA349445815TTN,TTN-AS1c.89006A>G (p.Tyr29669Cys)
c.70091A>G (p.Tyr23364Cys)
c.69890A>G (p.Tyr23297Cys)
c.69515A>G (p.Tyr23172Cys)
c.96710A>G (p.Tyr32237Cys)
c.91787A>G (p.Tyr30596Cys)
n.446+19627T>C
n.2043+902T>C
c.95807A>G (p.Tyr31936Cys)
c.69701A>G (p.Tyr23234Cys)
c.69560A>G (p.Tyr23187Cys)
c.95603A>G (p.Tyr31868Cys)
c.91001A>G (p.Tyr30334Cys)
c.90998A>G (p.Tyr30333Cys)
c.88040A>G (p.Tyr29347Cys)
c.69656A>G (p.Tyr23219Cys)
c.91151A>G (p.Tyr30384Cys)
c.91148A>G (p.Tyr30383Cys)
c.90581A>G (p.Tyr30194Cys)
c.87923A>G (p.Tyr29308Cys)
c.87842A>G (p.Tyr29281Cys)
c.69605A>G (p.Tyr23202Cys)
c.59459A>G (p.Tyr19820Cys)
2g.178543263T>GCA349445816TTN,TTN-AS1c.89006A>C (p.Tyr29669Ser)
c.70091A>C (p.Tyr23364Ser)
c.69890A>C (p.Tyr23297Ser)
c.69515A>C (p.Tyr23172Ser)
c.96710A>C (p.Tyr32237Ser)
c.91787A>C (p.Tyr30596Ser)
n.446+19627T>G
n.2043+902T>G
c.95807A>C (p.Tyr31936Ser)
c.69701A>C (p.Tyr23234Ser)
c.69560A>C (p.Tyr23187Ser)
c.95603A>C (p.Tyr31868Ser)
c.91001A>C (p.Tyr30334Ser)
c.90998A>C (p.Tyr30333Ser)
c.88040A>C (p.Tyr29347Ser)
c.69656A>C (p.Tyr23219Ser)
c.91151A>C (p.Tyr30384Ser)
c.91148A>C (p.Tyr30383Ser)
c.90581A>C (p.Tyr30194Ser)
c.87923A>C (p.Tyr29308Ser)
c.87842A>C (p.Tyr29281Ser)
c.69605A>C (p.Tyr23202Ser)
c.59459A>C (p.Tyr19820Ser)
2g.178543264A>CCA349445819TTN,TTN-AS1c.89005T>G (p.Tyr29669Asp)
c.70090T>G (p.Tyr23364Asp)
c.69889T>G (p.Tyr23297Asp)
c.69514T>G (p.Tyr23172Asp)
c.96709T>G (p.Tyr32237Asp)
c.91786T>G (p.Tyr30596Asp)
n.446+19628A>C
n.2043+903A>C
c.95806T>G (p.Tyr31936Asp)
c.69700T>G (p.Tyr23234Asp)
c.69559T>G (p.Tyr23187Asp)
c.95602T>G (p.Tyr31868Asp)
c.91000T>G (p.Tyr30334Asp)
c.90997T>G (p.Tyr30333Asp)
c.88039T>G (p.Tyr29347Asp)
c.69655T>G (p.Tyr23219Asp)
c.91150T>G (p.Tyr30384Asp)
c.91147T>G (p.Tyr30383Asp)
c.90580T>G (p.Tyr30194Asp)
c.87922T>G (p.Tyr29308Asp)
c.87841T>G (p.Tyr29281Asp)
c.69604T>G (p.Tyr23202Asp)
c.59458T>G (p.Tyr19820Asp)
2g.178543264A>GCA349445821TTN,TTN-AS1c.89005T>C (p.Tyr29669His)
c.70090T>C (p.Tyr23364His)
c.69889T>C (p.Tyr23297His)
c.69514T>C (p.Tyr23172His)
c.96709T>C (p.Tyr32237His)
c.91786T>C (p.Tyr30596His)
n.446+19628A>G
n.2043+903A>G
c.95806T>C (p.Tyr31936His)
c.69700T>C (p.Tyr23234His)
c.69559T>C (p.Tyr23187His)
c.95602T>C (p.Tyr31868His)
c.91000T>C (p.Tyr30334His)
c.90997T>C (p.Tyr30333His)
c.88039T>C (p.Tyr29347His)
c.69655T>C (p.Tyr23219His)
c.91150T>C (p.Tyr30384His)
c.91147T>C (p.Tyr30383His)
c.90580T>C (p.Tyr30194His)
c.87922T>C (p.Tyr29308His)
c.87841T>C (p.Tyr29281His)
c.69604T>C (p.Tyr23202His)
c.59458T>C (p.Tyr19820His)
 gnomAD v4
2g.178543264A>TCA349445818TTN,TTN-AS1c.89005T>A (p.Tyr29669Asn)
c.70090T>A (p.Tyr23364Asn)
c.69889T>A (p.Tyr23297Asn)
c.69514T>A (p.Tyr23172Asn)
c.96709T>A (p.Tyr32237Asn)
c.91786T>A (p.Tyr30596Asn)
n.446+19628A>T
n.2043+903A>T
c.95806T>A (p.Tyr31936Asn)
c.69700T>A (p.Tyr23234Asn)
c.69559T>A (p.Tyr23187Asn)
c.95602T>A (p.Tyr31868Asn)
c.91000T>A (p.Tyr30334Asn)
c.90997T>A (p.Tyr30333Asn)
c.88039T>A (p.Tyr29347Asn)
c.69655T>A (p.Tyr23219Asn)
c.91150T>A (p.Tyr30384Asn)
c.91147T>A (p.Tyr30383Asn)
c.90580T>A (p.Tyr30194Asn)
c.87922T>A (p.Tyr29308Asn)
c.87841T>A (p.Tyr29281Asn)
c.69604T>A (p.Tyr23202Asn)
c.59458T>A (p.Tyr19820Asn)
2g.178543265T>ACA430241277TTN,TTN-AS1c.89004A>T (p.Gly29668=)
c.70089A>T (p.Gly23363=)
c.69888A>T (p.Gly23296=)
c.69513A>T (p.Gly23171=)
c.96708A>T (p.Gly32236=)
c.91785A>T (p.Gly30595=)
n.446+19629T>A
n.2043+904T>A
c.95805A>T (p.Gly31935=)
c.69699A>T (p.Gly23233=)
c.69558A>T (p.Gly23186=)
c.95601A>T (p.Gly31867=)
c.90999A>T (p.Gly30333=)
c.90996A>T (p.Gly30332=)
c.88038A>T (p.Gly29346=)
c.69654A>T (p.Gly23218=)
c.91149A>T (p.Gly30383=)
c.91146A>T (p.Gly30382=)
c.90579A>T (p.Gly30193=)
c.87921A>T (p.Gly29307=)
c.87840A>T (p.Gly29280=)
c.69603A>T (p.Gly23201=)
c.59457A>T (p.Gly19819=)
 ClinVar dbSNP gnomAD v4
2g.178543265T>CCA1986722TTN,TTN-AS1c.89004A>G (p.Gly29668=)
c.70089A>G (p.Gly23363=)
c.69888A>G (p.Gly23296=)
c.69513A>G (p.Gly23171=)
c.96708A>G (p.Gly32236=)
c.91785A>G (p.Gly30595=)
n.446+19629T>C
n.2043+904T>C
c.95805A>G (p.Gly31935=)
c.69699A>G (p.Gly23233=)
c.69558A>G (p.Gly23186=)
c.95601A>G (p.Gly31867=)
c.90999A>G (p.Gly30333=)
c.90996A>G (p.Gly30332=)
c.88038A>G (p.Gly29346=)
c.69654A>G (p.Gly23218=)
c.91149A>G (p.Gly30383=)
c.91146A>G (p.Gly30382=)
c.90579A>G (p.Gly30193=)
c.87921A>G (p.Gly29307=)
c.87840A>G (p.Gly29280=)
c.69603A>G (p.Gly23201=)
c.59457A>G (p.Gly19819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543265T>GCA430241278TTN,TTN-AS1c.89004A>C (p.Gly29668=)
c.70089A>C (p.Gly23363=)
c.69888A>C (p.Gly23296=)
c.69513A>C (p.Gly23171=)
c.96708A>C (p.Gly32236=)
c.91785A>C (p.Gly30595=)
n.446+19629T>G
n.2043+904T>G
c.95805A>C (p.Gly31935=)
c.69699A>C (p.Gly23233=)
c.69558A>C (p.Gly23186=)
c.95601A>C (p.Gly31867=)
c.90999A>C (p.Gly30333=)
c.90996A>C (p.Gly30332=)
c.88038A>C (p.Gly29346=)
c.69654A>C (p.Gly23218=)
c.91149A>C (p.Gly30383=)
c.91146A>C (p.Gly30382=)
c.90579A>C (p.Gly30193=)
c.87921A>C (p.Gly29307=)
c.87840A>C (p.Gly29280=)
c.69603A>C (p.Gly23201=)
c.59457A>C (p.Gly19819=)
2g.178543265T=CA1310520602TTN,TTN-AS1c.89004A= (p.Gly29668=)
c.70089A= (p.Gly23363=)
c.69888A= (p.Gly23296=)
c.69513A= (p.Gly23171=)
c.96708A= (p.Gly32236=)
c.91785A= (p.Gly30595=)
n.446+19629T=
n.2043+904T=
c.95805A= (p.Gly31935=)
c.69699A= (p.Gly23233=)
c.69558A= (p.Gly23186=)
c.95601A= (p.Gly31867=)
c.90999A= (p.Gly30333=)
c.90996A= (p.Gly30332=)
c.88038A= (p.Gly29346=)
c.69654A= (p.Gly23218=)
c.91149A= (p.Gly30383=)
c.91146A= (p.Gly30382=)
c.90579A= (p.Gly30193=)
c.87921A= (p.Gly29307=)
c.87840A= (p.Gly29280=)
c.69603A= (p.Gly23201=)
c.59457A= (p.Gly19819=)
2g.178543266C>ACA349445824TTN,TTN-AS1c.89003G>T (p.Gly29668Val)
c.70088G>T (p.Gly23363Val)
c.69887G>T (p.Gly23296Val)
c.69512G>T (p.Gly23171Val)
c.96707G>T (p.Gly32236Val)
c.91784G>T (p.Gly30595Val)
n.446+19630C>A
n.2043+905C>A
c.95804G>T (p.Gly31935Val)
c.69698G>T (p.Gly23233Val)
c.69557G>T (p.Gly23186Val)
c.95600G>T (p.Gly31867Val)
c.90998G>T (p.Gly30333Val)
c.90995G>T (p.Gly30332Val)
c.88037G>T (p.Gly29346Val)
c.69653G>T (p.Gly23218Val)
c.91148G>T (p.Gly30383Val)
c.91145G>T (p.Gly30382Val)
c.90578G>T (p.Gly30193Val)
c.87920G>T (p.Gly29307Val)
c.87839G>T (p.Gly29280Val)
c.69602G>T (p.Gly23201Val)
c.59456G>T (p.Gly19819Val)
2g.178543266C=CA1310520605TTN,TTN-AS1c.89003G= (p.Gly29668=)
c.70088G= (p.Gly23363=)
c.69887G= (p.Gly23296=)
c.69512G= (p.Gly23171=)
c.96707G= (p.Gly32236=)
c.91784G= (p.Gly30595=)
n.446+19630C=
n.2043+905C=
c.95804G= (p.Gly31935=)
c.69698G= (p.Gly23233=)
c.69557G= (p.Gly23186=)
c.95600G= (p.Gly31867=)
c.90998G= (p.Gly30333=)
c.90995G= (p.Gly30332=)
c.88037G= (p.Gly29346=)
c.69653G= (p.Gly23218=)
c.91148G= (p.Gly30383=)
c.91145G= (p.Gly30382=)
c.90578G= (p.Gly30193=)
c.87920G= (p.Gly29307=)
c.87839G= (p.Gly29280=)
c.69602G= (p.Gly23201=)
c.59456G= (p.Gly19819=)
2g.178543266C>GCA349445827TTN,TTN-AS1c.89003G>C (p.Gly29668Ala)
c.70088G>C (p.Gly23363Ala)
c.69887G>C (p.Gly23296Ala)
c.69512G>C (p.Gly23171Ala)
c.96707G>C (p.Gly32236Ala)
c.91784G>C (p.Gly30595Ala)
n.446+19630C>G
n.2043+905C>G
c.95804G>C (p.Gly31935Ala)
c.69698G>C (p.Gly23233Ala)
c.69557G>C (p.Gly23186Ala)
c.95600G>C (p.Gly31867Ala)
c.90998G>C (p.Gly30333Ala)
c.90995G>C (p.Gly30332Ala)
c.88037G>C (p.Gly29346Ala)
c.69653G>C (p.Gly23218Ala)
c.91148G>C (p.Gly30383Ala)
c.91145G>C (p.Gly30382Ala)
c.90578G>C (p.Gly30193Ala)
c.87920G>C (p.Gly29307Ala)
c.87839G>C (p.Gly29280Ala)
c.69602G>C (p.Gly23201Ala)
c.59456G>C (p.Gly19819Ala)
2g.178543266C>TCA349445826TTN,TTN-AS1c.89003G>A (p.Gly29668Glu)
c.70088G>A (p.Gly23363Glu)
c.69887G>A (p.Gly23296Glu)
c.69512G>A (p.Gly23171Glu)
c.96707G>A (p.Gly32236Glu)
c.91784G>A (p.Gly30595Glu)
n.446+19630C>T
n.2043+905C>T
c.95804G>A (p.Gly31935Glu)
c.69698G>A (p.Gly23233Glu)
c.69557G>A (p.Gly23186Glu)
c.95600G>A (p.Gly31867Glu)
c.90998G>A (p.Gly30333Glu)
c.90995G>A (p.Gly30332Glu)
c.88037G>A (p.Gly29346Glu)
c.69653G>A (p.Gly23218Glu)
c.91148G>A (p.Gly30383Glu)
c.91145G>A (p.Gly30382Glu)
c.90578G>A (p.Gly30193Glu)
c.87920G>A (p.Gly29307Glu)
c.87839G>A (p.Gly29280Glu)
c.69602G>A (p.Gly23201Glu)
c.59456G>A (p.Gly19819Glu)
 ClinVar dbSNP
2g.178543267C>ACA349445830TTN,TTN-AS1c.89002G>T (p.Gly29668Ter)
c.70087G>T (p.Gly23363Ter)
c.69886G>T (p.Gly23296Ter)
c.69511G>T (p.Gly23171Ter)
c.96706G>T (p.Gly32236Ter)
c.91783G>T (p.Gly30595Ter)
n.446+19631C>A
n.2043+906C>A
c.95803G>T (p.Gly31935Ter)
c.69697G>T (p.Gly23233Ter)
c.69556G>T (p.Gly23186Ter)
c.95599G>T (p.Gly31867Ter)
c.90997G>T (p.Gly30333Ter)
c.90994G>T (p.Gly30332Ter)
c.88036G>T (p.Gly29346Ter)
c.69652G>T (p.Gly23218Ter)
c.91147G>T (p.Gly30383Ter)
c.91144G>T (p.Gly30382Ter)
c.90577G>T (p.Gly30193Ter)
c.87919G>T (p.Gly29307Ter)
c.87838G>T (p.Gly29280Ter)
c.69601G>T (p.Gly23201Ter)
c.59455G>T (p.Gly19819Ter)
2g.178543267C>GCA349445836TTN,TTN-AS1c.89002G>C (p.Gly29668Arg)
c.70087G>C (p.Gly23363Arg)
c.69886G>C (p.Gly23296Arg)
c.69511G>C (p.Gly23171Arg)
c.96706G>C (p.Gly32236Arg)
c.91783G>C (p.Gly30595Arg)
n.446+19631C>G
n.2043+906C>G
c.95803G>C (p.Gly31935Arg)
c.69697G>C (p.Gly23233Arg)
c.69556G>C (p.Gly23186Arg)
c.95599G>C (p.Gly31867Arg)
c.90997G>C (p.Gly30333Arg)
c.90994G>C (p.Gly30332Arg)
c.88036G>C (p.Gly29346Arg)
c.69652G>C (p.Gly23218Arg)
c.91147G>C (p.Gly30383Arg)
c.91144G>C (p.Gly30382Arg)
c.90577G>C (p.Gly30193Arg)
c.87919G>C (p.Gly29307Arg)
c.87838G>C (p.Gly29280Arg)
c.69601G>C (p.Gly23201Arg)
c.59455G>C (p.Gly19819Arg)
2g.178543267C>TCA349445839TTN,TTN-AS1c.89002G>A (p.Gly29668Arg)
c.70087G>A (p.Gly23363Arg)
c.69886G>A (p.Gly23296Arg)
c.69511G>A (p.Gly23171Arg)
c.96706G>A (p.Gly32236Arg)
c.91783G>A (p.Gly30595Arg)
n.446+19631C>T
n.2043+906C>T
c.95803G>A (p.Gly31935Arg)
c.69697G>A (p.Gly23233Arg)
c.69556G>A (p.Gly23186Arg)
c.95599G>A (p.Gly31867Arg)
c.90997G>A (p.Gly30333Arg)
c.90994G>A (p.Gly30332Arg)
c.88036G>A (p.Gly29346Arg)
c.69652G>A (p.Gly23218Arg)
c.91147G>A (p.Gly30383Arg)
c.91144G>A (p.Gly30382Arg)
c.90577G>A (p.Gly30193Arg)
c.87919G>A (p.Gly29307Arg)
c.87838G>A (p.Gly29280Arg)
c.69601G>A (p.Gly23201Arg)
c.59455G>A (p.Gly19819Arg)
2g.178543268A=CA1310520607TTN,TTN-AS1c.89001T= (p.Thr29667=)
c.70086T= (p.Thr23362=)
c.69885T= (p.Thr23295=)
c.69510T= (p.Thr23170=)
c.96705T= (p.Thr32235=)
c.91782T= (p.Thr30594=)
n.446+19632A=
n.2043+907A=
c.95802T= (p.Thr31934=)
c.69696T= (p.Thr23232=)
c.69555T= (p.Thr23185=)
c.95598T= (p.Thr31866=)
c.90996T= (p.Thr30332=)
c.90993T= (p.Thr30331=)
c.88035T= (p.Thr29345=)
c.69651T= (p.Thr23217=)
c.91146T= (p.Thr30382=)
c.91143T= (p.Thr30381=)
c.90576T= (p.Thr30192=)
c.87918T= (p.Thr29306=)
c.87837T= (p.Thr29279=)
c.69600T= (p.Thr23200=)
c.59454T= (p.Thr19818=)
2g.178543268A>CCA430241282TTN,TTN-AS1c.89001T>G (p.Thr29667=)
c.70086T>G (p.Thr23362=)
c.69885T>G (p.Thr23295=)
c.69510T>G (p.Thr23170=)
c.96705T>G (p.Thr32235=)
c.91782T>G (p.Thr30594=)
n.446+19632A>C
n.2043+907A>C
c.95802T>G (p.Thr31934=)
c.69696T>G (p.Thr23232=)
c.69555T>G (p.Thr23185=)
c.95598T>G (p.Thr31866=)
c.90996T>G (p.Thr30332=)
c.90993T>G (p.Thr30331=)
c.88035T>G (p.Thr29345=)
c.69651T>G (p.Thr23217=)
c.91146T>G (p.Thr30382=)
c.91143T>G (p.Thr30381=)
c.90576T>G (p.Thr30192=)
c.87918T>G (p.Thr29306=)
c.87837T>G (p.Thr29279=)
c.69600T>G (p.Thr23200=)
c.59454T>G (p.Thr19818=)
2g.178543268A>GCA430241283TTN,TTN-AS1c.89001T>C (p.Thr29667=)
c.70086T>C (p.Thr23362=)
c.69885T>C (p.Thr23295=)
c.69510T>C (p.Thr23170=)
c.96705T>C (p.Thr32235=)
c.91782T>C (p.Thr30594=)
n.446+19632A>G
n.2043+907A>G
c.95802T>C (p.Thr31934=)
c.69696T>C (p.Thr23232=)
c.69555T>C (p.Thr23185=)
c.95598T>C (p.Thr31866=)
c.90996T>C (p.Thr30332=)
c.90993T>C (p.Thr30331=)
c.88035T>C (p.Thr29345=)
c.69651T>C (p.Thr23217=)
c.91146T>C (p.Thr30382=)
c.91143T>C (p.Thr30381=)
c.90576T>C (p.Thr30192=)
c.87918T>C (p.Thr29306=)
c.87837T>C (p.Thr29279=)
c.69600T>C (p.Thr23200=)
c.59454T>C (p.Thr19818=)
 dbSNP
2g.178543268A>TCA430241284TTN,TTN-AS1c.89001T>A (p.Thr29667=)
c.70086T>A (p.Thr23362=)
c.69885T>A (p.Thr23295=)
c.69510T>A (p.Thr23170=)
c.96705T>A (p.Thr32235=)
c.91782T>A (p.Thr30594=)
n.446+19632A>T
n.2043+907A>T
c.95802T>A (p.Thr31934=)
c.69696T>A (p.Thr23232=)
c.69555T>A (p.Thr23185=)
c.95598T>A (p.Thr31866=)
c.90996T>A (p.Thr30332=)
c.90993T>A (p.Thr30331=)
c.88035T>A (p.Thr29345=)
c.69651T>A (p.Thr23217=)
c.91146T>A (p.Thr30382=)
c.91143T>A (p.Thr30381=)
c.90576T>A (p.Thr30192=)
c.87918T>A (p.Thr29306=)
c.87837T>A (p.Thr29279=)
c.69600T>A (p.Thr23200=)
c.59454T>A (p.Thr19818=)
2g.178543269G>ACA349445842TTN,TTN-AS1c.89000C>T (p.Thr29667Ile)
c.70085C>T (p.Thr23362Ile)
c.69884C>T (p.Thr23295Ile)
c.69509C>T (p.Thr23170Ile)
c.96704C>T (p.Thr32235Ile)
c.91781C>T (p.Thr30594Ile)
n.446+19633G>A
n.2043+908G>A
c.95801C>T (p.Thr31934Ile)
c.69695C>T (p.Thr23232Ile)
c.69554C>T (p.Thr23185Ile)
c.95597C>T (p.Thr31866Ile)
c.90995C>T (p.Thr30332Ile)
c.90992C>T (p.Thr30331Ile)
c.88034C>T (p.Thr29345Ile)
c.69650C>T (p.Thr23217Ile)
c.91145C>T (p.Thr30382Ile)
c.91142C>T (p.Thr30381Ile)
c.90575C>T (p.Thr30192Ile)
c.87917C>T (p.Thr29306Ile)
c.87836C>T (p.Thr29279Ile)
c.69599C>T (p.Thr23200Ile)
c.59453C>T (p.Thr19818Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178543269G>CCA349445843TTN,TTN-AS1c.89000C>G (p.Thr29667Ser)
c.70085C>G (p.Thr23362Ser)
c.69884C>G (p.Thr23295Ser)
c.69509C>G (p.Thr23170Ser)
c.96704C>G (p.Thr32235Ser)
c.91781C>G (p.Thr30594Ser)
n.446+19633G>C
n.2043+908G>C
c.95801C>G (p.Thr31934Ser)
c.69695C>G (p.Thr23232Ser)
c.69554C>G (p.Thr23185Ser)
c.95597C>G (p.Thr31866Ser)
c.90995C>G (p.Thr30332Ser)
c.90992C>G (p.Thr30331Ser)
c.88034C>G (p.Thr29345Ser)
c.69650C>G (p.Thr23217Ser)
c.91145C>G (p.Thr30382Ser)
c.91142C>G (p.Thr30381Ser)
c.90575C>G (p.Thr30192Ser)
c.87917C>G (p.Thr29306Ser)
c.87836C>G (p.Thr29279Ser)
c.69599C>G (p.Thr23200Ser)
c.59453C>G (p.Thr19818Ser)
2g.178543269G=CA1310520610TTN,TTN-AS1c.89000C= (p.Thr29667=)
c.70085C= (p.Thr23362=)
c.69884C= (p.Thr23295=)
c.69509C= (p.Thr23170=)
c.96704C= (p.Thr32235=)
c.91781C= (p.Thr30594=)
n.446+19633G=
n.2043+908G=
c.95801C= (p.Thr31934=)
c.69695C= (p.Thr23232=)
c.69554C= (p.Thr23185=)
c.95597C= (p.Thr31866=)
c.90995C= (p.Thr30332=)
c.90992C= (p.Thr30331=)
c.88034C= (p.Thr29345=)
c.69650C= (p.Thr23217=)
c.91145C= (p.Thr30382=)
c.91142C= (p.Thr30381=)
c.90575C= (p.Thr30192=)
c.87917C= (p.Thr29306=)
c.87836C= (p.Thr29279=)
c.69599C= (p.Thr23200=)
c.59453C= (p.Thr19818=)
2g.178543269G>TCA349445846TTN,TTN-AS1c.89000C>A (p.Thr29667Asn)
c.70085C>A (p.Thr23362Asn)
c.69884C>A (p.Thr23295Asn)
c.69509C>A (p.Thr23170Asn)
c.96704C>A (p.Thr32235Asn)
c.91781C>A (p.Thr30594Asn)
n.446+19633G>T
n.2043+908G>T
c.95801C>A (p.Thr31934Asn)
c.69695C>A (p.Thr23232Asn)
c.69554C>A (p.Thr23185Asn)
c.95597C>A (p.Thr31866Asn)
c.90995C>A (p.Thr30332Asn)
c.90992C>A (p.Thr30331Asn)
c.88034C>A (p.Thr29345Asn)
c.69650C>A (p.Thr23217Asn)
c.91145C>A (p.Thr30382Asn)
c.91142C>A (p.Thr30381Asn)
c.90575C>A (p.Thr30192Asn)
c.87917C>A (p.Thr29306Asn)
c.87836C>A (p.Thr29279Asn)
c.69599C>A (p.Thr23200Asn)
c.59453C>A (p.Thr19818Asn)
2g.178543270T>ACA349445847TTN,TTN-AS1c.88999A>T (p.Thr29667Ser)
c.70084A>T (p.Thr23362Ser)
c.69883A>T (p.Thr23295Ser)
c.69508A>T (p.Thr23170Ser)
c.96703A>T (p.Thr32235Ser)
c.91780A>T (p.Thr30594Ser)
n.446+19634T>A
n.2043+909T>A
c.95800A>T (p.Thr31934Ser)
c.69694A>T (p.Thr23232Ser)
c.69553A>T (p.Thr23185Ser)
c.95596A>T (p.Thr31866Ser)
c.90994A>T (p.Thr30332Ser)
c.90991A>T (p.Thr30331Ser)
c.88033A>T (p.Thr29345Ser)
c.69649A>T (p.Thr23217Ser)
c.91144A>T (p.Thr30382Ser)
c.91141A>T (p.Thr30381Ser)
c.90574A>T (p.Thr30192Ser)
c.87916A>T (p.Thr29306Ser)
c.87835A>T (p.Thr29279Ser)
c.69598A>T (p.Thr23200Ser)
c.59452A>T (p.Thr19818Ser)
 gnomAD v4
2g.178543270T>CCA349445848TTN,TTN-AS1c.88999A>G (p.Thr29667Ala)
c.70084A>G (p.Thr23362Ala)
c.69883A>G (p.Thr23295Ala)
c.69508A>G (p.Thr23170Ala)
c.96703A>G (p.Thr32235Ala)
c.91780A>G (p.Thr30594Ala)
n.446+19634T>C
n.2043+909T>C
c.95800A>G (p.Thr31934Ala)
c.69694A>G (p.Thr23232Ala)
c.69553A>G (p.Thr23185Ala)
c.95596A>G (p.Thr31866Ala)
c.90994A>G (p.Thr30332Ala)
c.90991A>G (p.Thr30331Ala)
c.88033A>G (p.Thr29345Ala)
c.69649A>G (p.Thr23217Ala)
c.91144A>G (p.Thr30382Ala)
c.91141A>G (p.Thr30381Ala)
c.90574A>G (p.Thr30192Ala)
c.87916A>G (p.Thr29306Ala)
c.87835A>G (p.Thr29279Ala)
c.69598A>G (p.Thr23200Ala)
c.59452A>G (p.Thr19818Ala)
2g.178543270T>GCA349445849TTN,TTN-AS1c.88999A>C (p.Thr29667Pro)
c.70084A>C (p.Thr23362Pro)
c.69883A>C (p.Thr23295Pro)
c.69508A>C (p.Thr23170Pro)
c.96703A>C (p.Thr32235Pro)
c.91780A>C (p.Thr30594Pro)
n.446+19634T>G
n.2043+909T>G
c.95800A>C (p.Thr31934Pro)
c.69694A>C (p.Thr23232Pro)
c.69553A>C (p.Thr23185Pro)
c.95596A>C (p.Thr31866Pro)
c.90994A>C (p.Thr30332Pro)
c.90991A>C (p.Thr30331Pro)
c.88033A>C (p.Thr29345Pro)
c.69649A>C (p.Thr23217Pro)
c.91144A>C (p.Thr30382Pro)
c.91141A>C (p.Thr30381Pro)
c.90574A>C (p.Thr30192Pro)
c.87916A>C (p.Thr29306Pro)
c.87835A>C (p.Thr29279Pro)
c.69598A>C (p.Thr23200Pro)
c.59452A>C (p.Thr19818Pro)
2g.178543271G>ACA430241288TTN,TTN-AS1c.88998C>T (p.Leu29666=)
c.70083C>T (p.Leu23361=)
c.69882C>T (p.Leu23294=)
c.69507C>T (p.Leu23169=)
c.96702C>T (p.Leu32234=)
c.91779C>T (p.Leu30593=)
n.446+19635G>A
n.2043+910G>A
c.95799C>T (p.Leu31933=)
c.69693C>T (p.Leu23231=)
c.69552C>T (p.Leu23184=)
c.95595C>T (p.Leu31865=)
c.90993C>T (p.Leu30331=)
c.90990C>T (p.Leu30330=)
c.88032C>T (p.Leu29344=)
c.69648C>T (p.Leu23216=)
c.91143C>T (p.Leu30381=)
c.91140C>T (p.Leu30380=)
c.90573C>T (p.Leu30191=)
c.87915C>T (p.Leu29305=)
c.87834C>T (p.Leu29278=)
c.69597C>T (p.Leu23199=)
c.59451C>T (p.Leu19817=)
2g.178543271G>CCA430241289TTN,TTN-AS1c.88998C>G (p.Leu29666=)
c.70083C>G (p.Leu23361=)
c.69882C>G (p.Leu23294=)
c.69507C>G (p.Leu23169=)
c.96702C>G (p.Leu32234=)
c.91779C>G (p.Leu30593=)
n.446+19635G>C
n.2043+910G>C
c.95799C>G (p.Leu31933=)
c.69693C>G (p.Leu23231=)
c.69552C>G (p.Leu23184=)
c.95595C>G (p.Leu31865=)
c.90993C>G (p.Leu30331=)
c.90990C>G (p.Leu30330=)
c.88032C>G (p.Leu29344=)
c.69648C>G (p.Leu23216=)
c.91143C>G (p.Leu30381=)
c.91140C>G (p.Leu30380=)
c.90573C>G (p.Leu30191=)
c.87915C>G (p.Leu29305=)
c.87834C>G (p.Leu29278=)
c.69597C>G (p.Leu23199=)
c.59451C>G (p.Leu19817=)
2g.178543271G>TCA430241290TTN,TTN-AS1c.88998C>A (p.Leu29666=)
c.70083C>A (p.Leu23361=)
c.69882C>A (p.Leu23294=)
c.69507C>A (p.Leu23169=)
c.96702C>A (p.Leu32234=)
c.91779C>A (p.Leu30593=)
n.446+19635G>T
n.2043+910G>T
c.95799C>A (p.Leu31933=)
c.69693C>A (p.Leu23231=)
c.69552C>A (p.Leu23184=)
c.95595C>A (p.Leu31865=)
c.90993C>A (p.Leu30331=)
c.90990C>A (p.Leu30330=)
c.88032C>A (p.Leu29344=)
c.69648C>A (p.Leu23216=)
c.91143C>A (p.Leu30381=)
c.91140C>A (p.Leu30380=)
c.90573C>A (p.Leu30191=)
c.87915C>A (p.Leu29305=)
c.87834C>A (p.Leu29278=)
c.69597C>A (p.Leu23199=)
c.59451C>A (p.Leu19817=)
2g.178543272A>CCA349445850TTN,TTN-AS1c.88997T>G (p.Leu29666Arg)
c.70082T>G (p.Leu23361Arg)
c.69881T>G (p.Leu23294Arg)
c.69506T>G (p.Leu23169Arg)
c.96701T>G (p.Leu32234Arg)
c.91778T>G (p.Leu30593Arg)
n.446+19636A>C
n.2043+911A>C
c.95798T>G (p.Leu31933Arg)
c.69692T>G (p.Leu23231Arg)
c.69551T>G (p.Leu23184Arg)
c.95594T>G (p.Leu31865Arg)
c.90992T>G (p.Leu30331Arg)
c.90989T>G (p.Leu30330Arg)
c.88031T>G (p.Leu29344Arg)
c.69647T>G (p.Leu23216Arg)
c.91142T>G (p.Leu30381Arg)
c.91139T>G (p.Leu30380Arg)
c.90572T>G (p.Leu30191Arg)
c.87914T>G (p.Leu29305Arg)
c.87833T>G (p.Leu29278Arg)
c.69596T>G (p.Leu23199Arg)
c.59450T>G (p.Leu19817Arg)
2g.178543272A>GCA349445851TTN,TTN-AS1c.88997T>C (p.Leu29666Pro)
c.70082T>C (p.Leu23361Pro)
c.69881T>C (p.Leu23294Pro)
c.69506T>C (p.Leu23169Pro)
c.96701T>C (p.Leu32234Pro)
c.91778T>C (p.Leu30593Pro)
n.446+19636A>G
n.2043+911A>G
c.95798T>C (p.Leu31933Pro)
c.69692T>C (p.Leu23231Pro)
c.69551T>C (p.Leu23184Pro)
c.95594T>C (p.Leu31865Pro)
c.90992T>C (p.Leu30331Pro)
c.90989T>C (p.Leu30330Pro)
c.88031T>C (p.Leu29344Pro)
c.69647T>C (p.Leu23216Pro)
c.91142T>C (p.Leu30381Pro)
c.91139T>C (p.Leu30380Pro)
c.90572T>C (p.Leu30191Pro)
c.87914T>C (p.Leu29305Pro)
c.87833T>C (p.Leu29278Pro)
c.69596T>C (p.Leu23199Pro)
c.59450T>C (p.Leu19817Pro)
2g.178543272A>TCA349445852TTN,TTN-AS1c.88997T>A (p.Leu29666His)
c.70082T>A (p.Leu23361His)
c.69881T>A (p.Leu23294His)
c.69506T>A (p.Leu23169His)
c.96701T>A (p.Leu32234His)
c.91778T>A (p.Leu30593His)
n.446+19636A>T
n.2043+911A>T
c.95798T>A (p.Leu31933His)
c.69692T>A (p.Leu23231His)
c.69551T>A (p.Leu23184His)
c.95594T>A (p.Leu31865His)
c.90992T>A (p.Leu30331His)
c.90989T>A (p.Leu30330His)
c.88031T>A (p.Leu29344His)
c.69647T>A (p.Leu23216His)
c.91142T>A (p.Leu30381His)
c.91139T>A (p.Leu30380His)
c.90572T>A (p.Leu30191His)
c.87914T>A (p.Leu29305His)
c.87833T>A (p.Leu29278His)
c.69596T>A (p.Leu23199His)
c.59450T>A (p.Leu19817His)
 gnomAD v4
2g.178543273G>ACA349445853TTN,TTN-AS1c.88996C>T (p.Leu29666Phe)
c.70081C>T (p.Leu23361Phe)
c.69880C>T (p.Leu23294Phe)
c.69505C>T (p.Leu23169Phe)
c.96700C>T (p.Leu32234Phe)
c.91777C>T (p.Leu30593Phe)
n.446+19637G>A
n.2043+912G>A
c.95797C>T (p.Leu31933Phe)
c.69691C>T (p.Leu23231Phe)
c.69550C>T (p.Leu23184Phe)
c.95593C>T (p.Leu31865Phe)
c.90991C>T (p.Leu30331Phe)
c.90988C>T (p.Leu30330Phe)
c.88030C>T (p.Leu29344Phe)
c.69646C>T (p.Leu23216Phe)
c.91141C>T (p.Leu30381Phe)
c.91138C>T (p.Leu30380Phe)
c.90571C>T (p.Leu30191Phe)
c.87913C>T (p.Leu29305Phe)
c.87832C>T (p.Leu29278Phe)
c.69595C>T (p.Leu23199Phe)
c.59449C>T (p.Leu19817Phe)
2g.178543273G>CCA349445856TTN,TTN-AS1c.88996C>G (p.Leu29666Val)
c.70081C>G (p.Leu23361Val)
c.69880C>G (p.Leu23294Val)
c.69505C>G (p.Leu23169Val)
c.96700C>G (p.Leu32234Val)
c.91777C>G (p.Leu30593Val)
n.446+19637G>C
n.2043+912G>C
c.95797C>G (p.Leu31933Val)
c.69691C>G (p.Leu23231Val)
c.69550C>G (p.Leu23184Val)
c.95593C>G (p.Leu31865Val)
c.90991C>G (p.Leu30331Val)
c.90988C>G (p.Leu30330Val)
c.88030C>G (p.Leu29344Val)
c.69646C>G (p.Leu23216Val)
c.91141C>G (p.Leu30381Val)
c.91138C>G (p.Leu30380Val)
c.90571C>G (p.Leu30191Val)
c.87913C>G (p.Leu29305Val)
c.87832C>G (p.Leu29278Val)
c.69595C>G (p.Leu23199Val)
c.59449C>G (p.Leu19817Val)
2g.178543273G>TCA349445855TTN,TTN-AS1c.88996C>A (p.Leu29666Ile)
c.70081C>A (p.Leu23361Ile)
c.69880C>A (p.Leu23294Ile)
c.69505C>A (p.Leu23169Ile)
c.96700C>A (p.Leu32234Ile)
c.91777C>A (p.Leu30593Ile)
n.446+19637G>T
n.2043+912G>T
c.95797C>A (p.Leu31933Ile)
c.69691C>A (p.Leu23231Ile)
c.69550C>A (p.Leu23184Ile)
c.95593C>A (p.Leu31865Ile)
c.90991C>A (p.Leu30331Ile)
c.90988C>A (p.Leu30330Ile)
c.88030C>A (p.Leu29344Ile)
c.69646C>A (p.Leu23216Ile)
c.91141C>A (p.Leu30381Ile)
c.91138C>A (p.Leu30380Ile)
c.90571C>A (p.Leu30191Ile)
c.87913C>A (p.Leu29305Ile)
c.87832C>A (p.Leu29278Ile)
c.69595C>A (p.Leu23199Ile)
c.59449C>A (p.Leu19817Ile)
2g.178543274T>ACA430241293TTN,TTN-AS1c.88995A>T (p.Arg29665=)
c.70080A>T (p.Arg23360=)
c.69879A>T (p.Arg23293=)
c.69504A>T (p.Arg23168=)
c.96699A>T (p.Arg32233=)
c.91776A>T (p.Arg30592=)
n.446+19638T>A
n.2043+913T>A
c.95796A>T (p.Arg31932=)
c.69690A>T (p.Arg23230=)
c.69549A>T (p.Arg23183=)
c.95592A>T (p.Arg31864=)
c.90990A>T (p.Arg30330=)
c.90987A>T (p.Arg30329=)
c.88029A>T (p.Arg29343=)
c.69645A>T (p.Arg23215=)
c.91140A>T (p.Arg30380=)
c.91137A>T (p.Arg30379=)
c.90570A>T (p.Arg30190=)
c.87912A>T (p.Arg29304=)
c.87831A>T (p.Arg29277=)
c.69594A>T (p.Arg23198=)
c.59448A>T (p.Arg19816=)
2g.178543274T>CCA430241294TTN,TTN-AS1c.88995A>G (p.Arg29665=)
c.70080A>G (p.Arg23360=)
c.69879A>G (p.Arg23293=)
c.69504A>G (p.Arg23168=)
c.96699A>G (p.Arg32233=)
c.91776A>G (p.Arg30592=)
n.446+19638T>C
n.2043+913T>C
c.95796A>G (p.Arg31932=)
c.69690A>G (p.Arg23230=)
c.69549A>G (p.Arg23183=)
c.95592A>G (p.Arg31864=)
c.90990A>G (p.Arg30330=)
c.90987A>G (p.Arg30329=)
c.88029A>G (p.Arg29343=)
c.69645A>G (p.Arg23215=)
c.91140A>G (p.Arg30380=)
c.91137A>G (p.Arg30379=)
c.90570A>G (p.Arg30190=)
c.87912A>G (p.Arg29304=)
c.87831A>G (p.Arg29277=)
c.69594A>G (p.Arg23198=)
c.59448A>G (p.Arg19816=)
 COSMIC COSMIC COSMIC COSMIC
2g.178543274T>GCA430241295TTN,TTN-AS1c.88995A>C (p.Arg29665=)
c.70080A>C (p.Arg23360=)
c.69879A>C (p.Arg23293=)
c.69504A>C (p.Arg23168=)
c.96699A>C (p.Arg32233=)
c.91776A>C (p.Arg30592=)
n.446+19638T>G
n.2043+913T>G
c.95796A>C (p.Arg31932=)
c.69690A>C (p.Arg23230=)
c.69549A>C (p.Arg23183=)
c.95592A>C (p.Arg31864=)
c.90990A>C (p.Arg30330=)
c.90987A>C (p.Arg30329=)
c.88029A>C (p.Arg29343=)
c.69645A>C (p.Arg23215=)
c.91140A>C (p.Arg30380=)
c.91137A>C (p.Arg30379=)
c.90570A>C (p.Arg30190=)
c.87912A>C (p.Arg29304=)
c.87831A>C (p.Arg29277=)
c.69594A>C (p.Arg23198=)
c.59448A>C (p.Arg19816=)
2g.178543275C>ACA349445857TTN,TTN-AS1c.88994G>T (p.Arg29665Leu)
c.70079G>T (p.Arg23360Leu)
c.69878G>T (p.Arg23293Leu)
c.69503G>T (p.Arg23168Leu)
c.96698G>T (p.Arg32233Leu)
c.91775G>T (p.Arg30592Leu)
n.446+19639C>A
n.2043+914C>A
c.95795G>T (p.Arg31932Leu)
c.69689G>T (p.Arg23230Leu)
c.69548G>T (p.Arg23183Leu)
c.95591G>T (p.Arg31864Leu)
c.90989G>T (p.Arg30330Leu)
c.90986G>T (p.Arg30329Leu)
c.88028G>T (p.Arg29343Leu)
c.69644G>T (p.Arg23215Leu)
c.91139G>T (p.Arg30380Leu)
c.91136G>T (p.Arg30379Leu)
c.90569G>T (p.Arg30190Leu)
c.87911G>T (p.Arg29304Leu)
c.87830G>T (p.Arg29277Leu)
c.69593G>T (p.Arg23198Leu)
c.59447G>T (p.Arg19816Leu)
2g.178543275C=CA1310520613TTN,TTN-AS1c.88994G= (p.Arg29665=)
c.70079G= (p.Arg23360=)
c.69878G= (p.Arg23293=)
c.69503G= (p.Arg23168=)
c.96698G= (p.Arg32233=)
c.91775G= (p.Arg30592=)
n.446+19639C=
n.2043+914C=
c.95795G= (p.Arg31932=)
c.69689G= (p.Arg23230=)
c.69548G= (p.Arg23183=)
c.95591G= (p.Arg31864=)
c.90989G= (p.Arg30330=)
c.90986G= (p.Arg30329=)
c.88028G= (p.Arg29343=)
c.69644G= (p.Arg23215=)
c.91139G= (p.Arg30380=)
c.91136G= (p.Arg30379=)
c.90569G= (p.Arg30190=)
c.87911G= (p.Arg29304=)
c.87830G= (p.Arg29277=)
c.69593G= (p.Arg23198=)
c.59447G= (p.Arg19816=)
2g.178543275C>GCA349445858TTN,TTN-AS1c.88994G>C (p.Arg29665Pro)
c.70079G>C (p.Arg23360Pro)
c.69878G>C (p.Arg23293Pro)
c.69503G>C (p.Arg23168Pro)
c.96698G>C (p.Arg32233Pro)
c.91775G>C (p.Arg30592Pro)
n.446+19639C>G
n.2043+914C>G
c.95795G>C (p.Arg31932Pro)
c.69689G>C (p.Arg23230Pro)
c.69548G>C (p.Arg23183Pro)
c.95591G>C (p.Arg31864Pro)
c.90989G>C (p.Arg30330Pro)
c.90986G>C (p.Arg30329Pro)
c.88028G>C (p.Arg29343Pro)
c.69644G>C (p.Arg23215Pro)
c.91139G>C (p.Arg30380Pro)
c.91136G>C (p.Arg30379Pro)
c.90569G>C (p.Arg30190Pro)
c.87911G>C (p.Arg29304Pro)
c.87830G>C (p.Arg29277Pro)
c.69593G>C (p.Arg23198Pro)
c.59447G>C (p.Arg19816Pro)
2g.178543275C>TCA1986723TTN,TTN-AS1c.88994G>A (p.Arg29665Gln)
c.70079G>A (p.Arg23360Gln)
c.69878G>A (p.Arg23293Gln)
c.69503G>A (p.Arg23168Gln)
c.96698G>A (p.Arg32233Gln)
c.91775G>A (p.Arg30592Gln)
n.446+19639C>T
n.2043+914C>T
c.95795G>A (p.Arg31932Gln)
c.69689G>A (p.Arg23230Gln)
c.69548G>A (p.Arg23183Gln)
c.95591G>A (p.Arg31864Gln)
c.90989G>A (p.Arg30330Gln)
c.90986G>A (p.Arg30329Gln)
c.88028G>A (p.Arg29343Gln)
c.69644G>A (p.Arg23215Gln)
c.91139G>A (p.Arg30380Gln)
c.91136G>A (p.Arg30379Gln)
c.90569G>A (p.Arg30190Gln)
c.87911G>A (p.Arg29304Gln)
c.87830G>A (p.Arg29277Gln)
c.69593G>A (p.Arg23198Gln)
c.59447G>A (p.Arg19816Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543276G>ACA309517TTN,TTN-AS1c.88993C>T (p.Arg29665Ter)
c.70078C>T (p.Arg23360Ter)
c.69877C>T (p.Arg23293Ter)
c.69502C>T (p.Arg23168Ter)
c.96697C>T (p.Arg32233Ter)
c.91774C>T (p.Arg30592Ter)
n.446+19640G>A
n.2043+915G>A
c.95794C>T (p.Arg31932Ter)
c.69688C>T (p.Arg23230Ter)
c.69547C>T (p.Arg23183Ter)
c.95590C>T (p.Arg31864Ter)
c.90988C>T (p.Arg30330Ter)
c.90985C>T (p.Arg30329Ter)
c.88027C>T (p.Arg29343Ter)
c.69643C>T (p.Arg23215Ter)
c.91138C>T (p.Arg30380Ter)
c.91135C>T (p.Arg30379Ter)
c.90568C>T (p.Arg30190Ter)
c.87910C>T (p.Arg29304Ter)
c.87829C>T (p.Arg29277Ter)
c.69592C>T (p.Arg23198Ter)
c.59446C>T (p.Arg19816Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543276G>CCA349445860TTN,TTN-AS1c.88993C>G (p.Arg29665Gly)
c.70078C>G (p.Arg23360Gly)
c.69877C>G (p.Arg23293Gly)
c.69502C>G (p.Arg23168Gly)
c.96697C>G (p.Arg32233Gly)
c.91774C>G (p.Arg30592Gly)
n.446+19640G>C
n.2043+915G>C
c.95794C>G (p.Arg31932Gly)
c.69688C>G (p.Arg23230Gly)
c.69547C>G (p.Arg23183Gly)
c.95590C>G (p.Arg31864Gly)
c.90988C>G (p.Arg30330Gly)
c.90985C>G (p.Arg30329Gly)
c.88027C>G (p.Arg29343Gly)
c.69643C>G (p.Arg23215Gly)
c.91138C>G (p.Arg30380Gly)
c.91135C>G (p.Arg30379Gly)
c.90568C>G (p.Arg30190Gly)
c.87910C>G (p.Arg29304Gly)
c.87829C>G (p.Arg29277Gly)
c.69592C>G (p.Arg23198Gly)
c.59446C>G (p.Arg19816Gly)
2g.178543276G=CA1310520615TTN,TTN-AS1c.88993C= (p.Arg29665=)
c.70078C= (p.Arg23360=)
c.69877C= (p.Arg23293=)
c.69502C= (p.Arg23168=)
c.96697C= (p.Arg32233=)
c.91774C= (p.Arg30592=)
n.446+19640G=
n.2043+915G=
c.95794C= (p.Arg31932=)
c.69688C= (p.Arg23230=)
c.69547C= (p.Arg23183=)
c.95590C= (p.Arg31864=)
c.90988C= (p.Arg30330=)
c.90985C= (p.Arg30329=)
c.88027C= (p.Arg29343=)
c.69643C= (p.Arg23215=)
c.91138C= (p.Arg30380=)
c.91135C= (p.Arg30379=)
c.90568C= (p.Arg30190=)
c.87910C= (p.Arg29304=)
c.87829C= (p.Arg29277=)
c.69592C= (p.Arg23198=)
c.59446C= (p.Arg19816=)
2g.178543276G>TCA430241296TTN,TTN-AS1c.88993C>A (p.Arg29665=)
c.70078C>A (p.Arg23360=)
c.69877C>A (p.Arg23293=)
c.69502C>A (p.Arg23168=)
c.96697C>A (p.Arg32233=)
c.91774C>A (p.Arg30592=)
n.446+19640G>T
n.2043+915G>T
c.95794C>A (p.Arg31932=)
c.69688C>A (p.Arg23230=)
c.69547C>A (p.Arg23183=)
c.95590C>A (p.Arg31864=)
c.90988C>A (p.Arg30330=)
c.90985C>A (p.Arg30329=)
c.88027C>A (p.Arg29343=)
c.69643C>A (p.Arg23215=)
c.91138C>A (p.Arg30380=)
c.91135C>A (p.Arg30379=)
c.90568C>A (p.Arg30190=)
c.87910C>A (p.Arg29304=)
c.87829C>A (p.Arg29277=)
c.69592C>A (p.Arg23198=)
c.59446C>A (p.Arg19816=)
2g.178543277G>ACA430241297TTN,TTN-AS1c.88992C>T (p.Ser29664=)
c.70077C>T (p.Ser23359=)
c.69876C>T (p.Ser23292=)
c.69501C>T (p.Ser23167=)
c.96696C>T (p.Ser32232=)
c.91773C>T (p.Ser30591=)
n.446+19641G>A
n.2043+916G>A
c.95793C>T (p.Ser31931=)
c.69687C>T (p.Ser23229=)
c.69546C>T (p.Ser23182=)
c.95589C>T (p.Ser31863=)
c.90987C>T (p.Ser30329=)
c.90984C>T (p.Ser30328=)
c.88026C>T (p.Ser29342=)
c.69642C>T (p.Ser23214=)
c.91137C>T (p.Ser30379=)
c.91134C>T (p.Ser30378=)
c.90567C>T (p.Ser30189=)
c.87909C>T (p.Ser29303=)
c.87828C>T (p.Ser29276=)
c.69591C>T (p.Ser23197=)
c.59445C>T (p.Ser19815=)
2g.178543277G>CCA349445863TTN,TTN-AS1c.88992C>G (p.Ser29664Arg)
c.70077C>G (p.Ser23359Arg)
c.69876C>G (p.Ser23292Arg)
c.69501C>G (p.Ser23167Arg)
c.96696C>G (p.Ser32232Arg)
c.91773C>G (p.Ser30591Arg)
n.446+19641G>C
n.2043+916G>C
c.95793C>G (p.Ser31931Arg)
c.69687C>G (p.Ser23229Arg)
c.69546C>G (p.Ser23182Arg)
c.95589C>G (p.Ser31863Arg)
c.90987C>G (p.Ser30329Arg)
c.90984C>G (p.Ser30328Arg)
c.88026C>G (p.Ser29342Arg)
c.69642C>G (p.Ser23214Arg)
c.91137C>G (p.Ser30379Arg)
c.91134C>G (p.Ser30378Arg)
c.90567C>G (p.Ser30189Arg)
c.87909C>G (p.Ser29303Arg)
c.87828C>G (p.Ser29276Arg)
c.69591C>G (p.Ser23197Arg)
c.59445C>G (p.Ser19815Arg)
2g.178543277G=CA1310520618TTN,TTN-AS1c.88992C= (p.Ser29664=)
c.70077C= (p.Ser23359=)
c.69876C= (p.Ser23292=)
c.69501C= (p.Ser23167=)
c.96696C= (p.Ser32232=)
c.91773C= (p.Ser30591=)
n.446+19641G=
n.2043+916G=
c.95793C= (p.Ser31931=)
c.69687C= (p.Ser23229=)
c.69546C= (p.Ser23182=)
c.95589C= (p.Ser31863=)
c.90987C= (p.Ser30329=)
c.90984C= (p.Ser30328=)
c.88026C= (p.Ser29342=)
c.69642C= (p.Ser23214=)
c.91137C= (p.Ser30379=)
c.91134C= (p.Ser30378=)
c.90567C= (p.Ser30189=)
c.87909C= (p.Ser29303=)
c.87828C= (p.Ser29276=)
c.69591C= (p.Ser23197=)
c.59445C= (p.Ser19815=)
2g.178543277G>TCA1986724TTN,TTN-AS1c.88992C>A (p.Ser29664Arg)
c.70077C>A (p.Ser23359Arg)
c.69876C>A (p.Ser23292Arg)
c.69501C>A (p.Ser23167Arg)
c.96696C>A (p.Ser32232Arg)
c.91773C>A (p.Ser30591Arg)
n.446+19641G>T
n.2043+916G>T
c.95793C>A (p.Ser31931Arg)
c.69687C>A (p.Ser23229Arg)
c.69546C>A (p.Ser23182Arg)
c.95589C>A (p.Ser31863Arg)
c.90987C>A (p.Ser30329Arg)
c.90984C>A (p.Ser30328Arg)
c.88026C>A (p.Ser29342Arg)
c.69642C>A (p.Ser23214Arg)
c.91137C>A (p.Ser30379Arg)
c.91134C>A (p.Ser30378Arg)
c.90567C>A (p.Ser30189Arg)
c.87909C>A (p.Ser29303Arg)
c.87828C>A (p.Ser29276Arg)
c.69591C>A (p.Ser23197Arg)
c.59445C>A (p.Ser19815Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543278C>ACA349445878TTN,TTN-AS1c.88991G>T (p.Ser29664Ile)
c.70076G>T (p.Ser23359Ile)
c.69875G>T (p.Ser23292Ile)
c.69500G>T (p.Ser23167Ile)
c.96695G>T (p.Ser32232Ile)
c.91772G>T (p.Ser30591Ile)
n.446+19642C>A
n.2043+917C>A
c.95792G>T (p.Ser31931Ile)
c.69686G>T (p.Ser23229Ile)
c.69545G>T (p.Ser23182Ile)
c.95588G>T (p.Ser31863Ile)
c.90986G>T (p.Ser30329Ile)
c.90983G>T (p.Ser30328Ile)
c.88025G>T (p.Ser29342Ile)
c.69641G>T (p.Ser23214Ile)
c.91136G>T (p.Ser30379Ile)
c.91133G>T (p.Ser30378Ile)
c.90566G>T (p.Ser30189Ile)
c.87908G>T (p.Ser29303Ile)
c.87827G>T (p.Ser29276Ile)
c.69590G>T (p.Ser23197Ile)
c.59444G>T (p.Ser19815Ile)
2g.178543278C>GCA349445880TTN,TTN-AS1c.88991G>C (p.Ser29664Thr)
c.70076G>C (p.Ser23359Thr)
c.69875G>C (p.Ser23292Thr)
c.69500G>C (p.Ser23167Thr)
c.96695G>C (p.Ser32232Thr)
c.91772G>C (p.Ser30591Thr)
n.446+19642C>G
n.2043+917C>G
c.95792G>C (p.Ser31931Thr)
c.69686G>C (p.Ser23229Thr)
c.69545G>C (p.Ser23182Thr)
c.95588G>C (p.Ser31863Thr)
c.90986G>C (p.Ser30329Thr)
c.90983G>C (p.Ser30328Thr)
c.88025G>C (p.Ser29342Thr)
c.69641G>C (p.Ser23214Thr)
c.91136G>C (p.Ser30379Thr)
c.91133G>C (p.Ser30378Thr)
c.90566G>C (p.Ser30189Thr)
c.87908G>C (p.Ser29303Thr)
c.87827G>C (p.Ser29276Thr)
c.69590G>C (p.Ser23197Thr)
c.59444G>C (p.Ser19815Thr)
 dbSNP
2g.178543278C>TCA349445882TTN,TTN-AS1c.88991G>A (p.Ser29664Asn)
c.70076G>A (p.Ser23359Asn)
c.69875G>A (p.Ser23292Asn)
c.69500G>A (p.Ser23167Asn)
c.96695G>A (p.Ser32232Asn)
c.91772G>A (p.Ser30591Asn)
n.446+19642C>T
n.2043+917C>T
c.95792G>A (p.Ser31931Asn)
c.69686G>A (p.Ser23229Asn)
c.69545G>A (p.Ser23182Asn)
c.95588G>A (p.Ser31863Asn)
c.90986G>A (p.Ser30329Asn)
c.90983G>A (p.Ser30328Asn)
c.88025G>A (p.Ser29342Asn)
c.69641G>A (p.Ser23214Asn)
c.91136G>A (p.Ser30379Asn)
c.91133G>A (p.Ser30378Asn)
c.90566G>A (p.Ser30189Asn)
c.87908G>A (p.Ser29303Asn)
c.87827G>A (p.Ser29276Asn)
c.69590G>A (p.Ser23197Asn)
c.59444G>A (p.Ser19815Asn)
2g.178543279T>ACA349445891TTN,TTN-AS1c.88990A>T (p.Ser29664Cys)
c.70075A>T (p.Ser23359Cys)
c.69874A>T (p.Ser23292Cys)
c.69499A>T (p.Ser23167Cys)
c.96694A>T (p.Ser32232Cys)
c.91771A>T (p.Ser30591Cys)
n.446+19643T>A
n.2043+918T>A
c.95791A>T (p.Ser31931Cys)
c.69685A>T (p.Ser23229Cys)
c.69544A>T (p.Ser23182Cys)
c.95587A>T (p.Ser31863Cys)
c.90985A>T (p.Ser30329Cys)
c.90982A>T (p.Ser30328Cys)
c.88024A>T (p.Ser29342Cys)
c.69640A>T (p.Ser23214Cys)
c.91135A>T (p.Ser30379Cys)
c.91132A>T (p.Ser30378Cys)
c.90565A>T (p.Ser30189Cys)
c.87907A>T (p.Ser29303Cys)
c.87826A>T (p.Ser29276Cys)
c.69589A>T (p.Ser23197Cys)
c.59443A>T (p.Ser19815Cys)
2g.178543279T>CCA349445894TTN,TTN-AS1c.88990A>G (p.Ser29664Gly)
c.70075A>G (p.Ser23359Gly)
c.69874A>G (p.Ser23292Gly)
c.69499A>G (p.Ser23167Gly)
c.96694A>G (p.Ser32232Gly)
c.91771A>G (p.Ser30591Gly)
n.446+19643T>C
n.2043+918T>C
c.95791A>G (p.Ser31931Gly)
c.69685A>G (p.Ser23229Gly)
c.69544A>G (p.Ser23182Gly)
c.95587A>G (p.Ser31863Gly)
c.90985A>G (p.Ser30329Gly)
c.90982A>G (p.Ser30328Gly)
c.88024A>G (p.Ser29342Gly)
c.69640A>G (p.Ser23214Gly)
c.91135A>G (p.Ser30379Gly)
c.91132A>G (p.Ser30378Gly)
c.90565A>G (p.Ser30189Gly)
c.87907A>G (p.Ser29303Gly)
c.87826A>G (p.Ser29276Gly)
c.69589A>G (p.Ser23197Gly)
c.59443A>G (p.Ser19815Gly)
2g.178543279T>GCA349445887TTN,TTN-AS1c.88990A>C (p.Ser29664Arg)
c.70075A>C (p.Ser23359Arg)
c.69874A>C (p.Ser23292Arg)
c.69499A>C (p.Ser23167Arg)
c.96694A>C (p.Ser32232Arg)
c.91771A>C (p.Ser30591Arg)
n.446+19643T>G
n.2043+918T>G
c.95791A>C (p.Ser31931Arg)
c.69685A>C (p.Ser23229Arg)
c.69544A>C (p.Ser23182Arg)
c.95587A>C (p.Ser31863Arg)
c.90985A>C (p.Ser30329Arg)
c.90982A>C (p.Ser30328Arg)
c.88024A>C (p.Ser29342Arg)
c.69640A>C (p.Ser23214Arg)
c.91135A>C (p.Ser30379Arg)
c.91132A>C (p.Ser30378Arg)
c.90565A>C (p.Ser30189Arg)
c.87907A>C (p.Ser29303Arg)
c.87826A>C (p.Ser29276Arg)
c.69589A>C (p.Ser23197Arg)
c.59443A>C (p.Ser19815Arg)
2g.178543280A=CA1310520620TTN,TTN-AS1c.88989T= (p.Gly29663=)
c.70074T= (p.Gly23358=)
c.69873T= (p.Gly23291=)
c.69498T= (p.Gly23166=)
c.96693T= (p.Gly32231=)
c.91770T= (p.Gly30590=)
n.446+19644A=
n.2043+919A=
c.95790T= (p.Gly31930=)
c.69684T= (p.Gly23228=)
c.69543T= (p.Gly23181=)
c.95586T= (p.Gly31862=)
c.90984T= (p.Gly30328=)
c.90981T= (p.Gly30327=)
c.88023T= (p.Gly29341=)
c.69639T= (p.Gly23213=)
c.91134T= (p.Gly30378=)
c.91131T= (p.Gly30377=)
c.90564T= (p.Gly30188=)
c.87906T= (p.Gly29302=)
c.87825T= (p.Gly29275=)
c.69588T= (p.Gly23196=)
c.59442T= (p.Gly19814=)
2g.178543280A>CCA430241302TTN,TTN-AS1c.88989T>G (p.Gly29663=)
c.70074T>G (p.Gly23358=)
c.69873T>G (p.Gly23291=)
c.69498T>G (p.Gly23166=)
c.96693T>G (p.Gly32231=)
c.91770T>G (p.Gly30590=)
n.446+19644A>C
n.2043+919A>C
c.95790T>G (p.Gly31930=)
c.69684T>G (p.Gly23228=)
c.69543T>G (p.Gly23181=)
c.95586T>G (p.Gly31862=)
c.90984T>G (p.Gly30328=)
c.90981T>G (p.Gly30327=)
c.88023T>G (p.Gly29341=)
c.69639T>G (p.Gly23213=)
c.91134T>G (p.Gly30378=)
c.91131T>G (p.Gly30377=)
c.90564T>G (p.Gly30188=)
c.87906T>G (p.Gly29302=)
c.87825T>G (p.Gly29275=)
c.69588T>G (p.Gly23196=)
c.59442T>G (p.Gly19814=)
 dbSNP
2g.178543280A>GCA430241301TTN,TTN-AS1c.88989T>C (p.Gly29663=)
c.70074T>C (p.Gly23358=)
c.69873T>C (p.Gly23291=)
c.69498T>C (p.Gly23166=)
c.96693T>C (p.Gly32231=)
c.91770T>C (p.Gly30590=)
n.446+19644A>G
n.2043+919A>G
c.95790T>C (p.Gly31930=)
c.69684T>C (p.Gly23228=)
c.69543T>C (p.Gly23181=)
c.95586T>C (p.Gly31862=)
c.90984T>C (p.Gly30328=)
c.90981T>C (p.Gly30327=)
c.88023T>C (p.Gly29341=)
c.69639T>C (p.Gly23213=)
c.91134T>C (p.Gly30378=)
c.91131T>C (p.Gly30377=)
c.90564T>C (p.Gly30188=)
c.87906T>C (p.Gly29302=)
c.87825T>C (p.Gly29275=)
c.69588T>C (p.Gly23196=)
c.59442T>C (p.Gly19814=)
2g.178543280A>TCA430241300TTN,TTN-AS1c.88989T>A (p.Gly29663=)
c.70074T>A (p.Gly23358=)
c.69873T>A (p.Gly23291=)
c.69498T>A (p.Gly23166=)
c.96693T>A (p.Gly32231=)
c.91770T>A (p.Gly30590=)
n.446+19644A>T
n.2043+919A>T
c.95790T>A (p.Gly31930=)
c.69684T>A (p.Gly23228=)
c.69543T>A (p.Gly23181=)
c.95586T>A (p.Gly31862=)
c.90984T>A (p.Gly30328=)
c.90981T>A (p.Gly30327=)
c.88023T>A (p.Gly29341=)
c.69639T>A (p.Gly23213=)
c.91134T>A (p.Gly30378=)
c.91131T>A (p.Gly30377=)
c.90564T>A (p.Gly30188=)
c.87906T>A (p.Gly29302=)
c.87825T>A (p.Gly29275=)
c.69588T>A (p.Gly23196=)
c.59442T>A (p.Gly19814=)
2g.178543281C>ACA349445895TTN,TTN-AS1c.88988G>T (p.Gly29663Val)
c.70073G>T (p.Gly23358Val)
c.69872G>T (p.Gly23291Val)
c.69497G>T (p.Gly23166Val)
c.96692G>T (p.Gly32231Val)
c.91769G>T (p.Gly30590Val)
n.446+19645C>A
n.2043+920C>A
c.95789G>T (p.Gly31930Val)
c.69683G>T (p.Gly23228Val)
c.69542G>T (p.Gly23181Val)
c.95585G>T (p.Gly31862Val)
c.90983G>T (p.Gly30328Val)
c.90980G>T (p.Gly30327Val)
c.88022G>T (p.Gly29341Val)
c.69638G>T (p.Gly23213Val)
c.91133G>T (p.Gly30378Val)
c.91130G>T (p.Gly30377Val)
c.90563G>T (p.Gly30188Val)
c.87905G>T (p.Gly29302Val)
c.87824G>T (p.Gly29275Val)
c.69587G>T (p.Gly23196Val)
c.59441G>T (p.Gly19814Val)
2g.178543281C>GCA349445897TTN,TTN-AS1c.88988G>C (p.Gly29663Ala)
c.70073G>C (p.Gly23358Ala)
c.69872G>C (p.Gly23291Ala)
c.69497G>C (p.Gly23166Ala)
c.96692G>C (p.Gly32231Ala)
c.91769G>C (p.Gly30590Ala)
n.446+19645C>G
n.2043+920C>G
c.95789G>C (p.Gly31930Ala)
c.69683G>C (p.Gly23228Ala)
c.69542G>C (p.Gly23181Ala)
c.95585G>C (p.Gly31862Ala)
c.90983G>C (p.Gly30328Ala)
c.90980G>C (p.Gly30327Ala)
c.88022G>C (p.Gly29341Ala)
c.69638G>C (p.Gly23213Ala)
c.91133G>C (p.Gly30378Ala)
c.91130G>C (p.Gly30377Ala)
c.90563G>C (p.Gly30188Ala)
c.87905G>C (p.Gly29302Ala)
c.87824G>C (p.Gly29275Ala)
c.69587G>C (p.Gly23196Ala)
c.59441G>C (p.Gly19814Ala)
2g.178543281C>TCA349445898TTN,TTN-AS1c.88988G>A (p.Gly29663Asp)
c.70073G>A (p.Gly23358Asp)
c.69872G>A (p.Gly23291Asp)
c.69497G>A (p.Gly23166Asp)
c.96692G>A (p.Gly32231Asp)
c.91769G>A (p.Gly30590Asp)
n.446+19645C>T
n.2043+920C>T
c.95789G>A (p.Gly31930Asp)
c.69683G>A (p.Gly23228Asp)
c.69542G>A (p.Gly23181Asp)
c.95585G>A (p.Gly31862Asp)
c.90983G>A (p.Gly30328Asp)
c.90980G>A (p.Gly30327Asp)
c.88022G>A (p.Gly29341Asp)
c.69638G>A (p.Gly23213Asp)
c.91133G>A (p.Gly30378Asp)
c.91130G>A (p.Gly30377Asp)
c.90563G>A (p.Gly30188Asp)
c.87905G>A (p.Gly29302Asp)
c.87824G>A (p.Gly29275Asp)
c.69587G>A (p.Gly23196Asp)
c.59441G>A (p.Gly19814Asp)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543282C>ACA349445909TTN,TTN-AS1c.88987G>T (p.Gly29663Cys)
c.70072G>T (p.Gly23358Cys)
c.69871G>T (p.Gly23291Cys)
c.69496G>T (p.Gly23166Cys)
c.96691G>T (p.Gly32231Cys)
c.91768G>T (p.Gly30590Cys)
n.446+19646C>A
n.2043+921C>A
c.95788G>T (p.Gly31930Cys)
c.69682G>T (p.Gly23228Cys)
c.69541G>T (p.Gly23181Cys)
c.95584G>T (p.Gly31862Cys)
c.90982G>T (p.Gly30328Cys)
c.90979G>T (p.Gly30327Cys)
c.88021G>T (p.Gly29341Cys)
c.69637G>T (p.Gly23213Cys)
c.91132G>T (p.Gly30378Cys)
c.91129G>T (p.Gly30377Cys)
c.90562G>T (p.Gly30188Cys)
c.87904G>T (p.Gly29302Cys)
c.87823G>T (p.Gly29275Cys)
c.69586G>T (p.Gly23196Cys)
c.59440G>T (p.Gly19814Cys)
2g.178543282C>GCA349445912TTN,TTN-AS1c.88987G>C (p.Gly29663Arg)
c.70072G>C (p.Gly23358Arg)
c.69871G>C (p.Gly23291Arg)
c.69496G>C (p.Gly23166Arg)
c.96691G>C (p.Gly32231Arg)
c.91768G>C (p.Gly30590Arg)
n.446+19646C>G
n.2043+921C>G
c.95788G>C (p.Gly31930Arg)
c.69682G>C (p.Gly23228Arg)
c.69541G>C (p.Gly23181Arg)
c.95584G>C (p.Gly31862Arg)
c.90982G>C (p.Gly30328Arg)
c.90979G>C (p.Gly30327Arg)
c.88021G>C (p.Gly29341Arg)
c.69637G>C (p.Gly23213Arg)
c.91132G>C (p.Gly30378Arg)
c.91129G>C (p.Gly30377Arg)
c.90562G>C (p.Gly30188Arg)
c.87904G>C (p.Gly29302Arg)
c.87823G>C (p.Gly29275Arg)
c.69586G>C (p.Gly23196Arg)
c.59440G>C (p.Gly19814Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178543282C>TCA349445915TTN,TTN-AS1c.88987G>A (p.Gly29663Ser)
c.70072G>A (p.Gly23358Ser)
c.69871G>A (p.Gly23291Ser)
c.69496G>A (p.Gly23166Ser)
c.96691G>A (p.Gly32231Ser)
c.91768G>A (p.Gly30590Ser)
n.446+19646C>T
n.2043+921C>T
c.95788G>A (p.Gly31930Ser)
c.69682G>A (p.Gly23228Ser)
c.69541G>A (p.Gly23181Ser)
c.95584G>A (p.Gly31862Ser)
c.90982G>A (p.Gly30328Ser)
c.90979G>A (p.Gly30327Ser)
c.88021G>A (p.Gly29341Ser)
c.69637G>A (p.Gly23213Ser)
c.91132G>A (p.Gly30378Ser)
c.91129G>A (p.Gly30377Ser)
c.90562G>A (p.Gly30188Ser)
c.87904G>A (p.Gly29302Ser)
c.87823G>A (p.Gly29275Ser)
c.69586G>A (p.Gly23196Ser)
c.59440G>A (p.Gly19814Ser)
 gnomAD v4
2g.178543283A>CCA430241305TTN,TTN-AS1c.88986T>G (p.Gly29662=)
c.70071T>G (p.Gly23357=)
c.69870T>G (p.Gly23290=)
c.69495T>G (p.Gly23165=)
c.96690T>G (p.Gly32230=)
c.91767T>G (p.Gly30589=)
n.446+19647A>C
n.2043+922A>C
c.95787T>G (p.Gly31929=)
c.69681T>G (p.Gly23227=)
c.69540T>G (p.Gly23180=)
c.95583T>G (p.Gly31861=)
c.90981T>G (p.Gly30327=)
c.90978T>G (p.Gly30326=)
c.88020T>G (p.Gly29340=)
c.69636T>G (p.Gly23212=)
c.91131T>G (p.Gly30377=)
c.91128T>G (p.Gly30376=)
c.90561T>G (p.Gly30187=)
c.87903T>G (p.Gly29301=)
c.87822T>G (p.Gly29274=)
c.69585T>G (p.Gly23195=)
c.59439T>G (p.Gly19813=)
2g.178543283A>GCA430241307TTN,TTN-AS1c.88986T>C (p.Gly29662=)
c.70071T>C (p.Gly23357=)
c.69870T>C (p.Gly23290=)
c.69495T>C (p.Gly23165=)
c.96690T>C (p.Gly32230=)
c.91767T>C (p.Gly30589=)
n.446+19647A>G
n.2043+922A>G
c.95787T>C (p.Gly31929=)
c.69681T>C (p.Gly23227=)
c.69540T>C (p.Gly23180=)
c.95583T>C (p.Gly31861=)
c.90981T>C (p.Gly30327=)
c.90978T>C (p.Gly30326=)
c.88020T>C (p.Gly29340=)
c.69636T>C (p.Gly23212=)
c.91131T>C (p.Gly30377=)
c.91128T>C (p.Gly30376=)
c.90561T>C (p.Gly30187=)
c.87903T>C (p.Gly29301=)
c.87822T>C (p.Gly29274=)
c.69585T>C (p.Gly23195=)
c.59439T>C (p.Gly19813=)
2g.178543283A>TCA430241306TTN,TTN-AS1c.88986T>A (p.Gly29662=)
c.70071T>A (p.Gly23357=)
c.69870T>A (p.Gly23290=)
c.69495T>A (p.Gly23165=)
c.96690T>A (p.Gly32230=)
c.91767T>A (p.Gly30589=)
n.446+19647A>T
n.2043+922A>T
c.95787T>A (p.Gly31929=)
c.69681T>A (p.Gly23227=)
c.69540T>A (p.Gly23180=)
c.95583T>A (p.Gly31861=)
c.90981T>A (p.Gly30327=)
c.90978T>A (p.Gly30326=)
c.88020T>A (p.Gly29340=)
c.69636T>A (p.Gly23212=)
c.91131T>A (p.Gly30377=)
c.91128T>A (p.Gly30376=)
c.90561T>A (p.Gly30187=)
c.87903T>A (p.Gly29301=)
c.87822T>A (p.Gly29274=)
c.69585T>A (p.Gly23195=)
c.59439T>A (p.Gly19813=)
2g.178543284C>ACA349445921TTN,TTN-AS1c.88985G>T (p.Gly29662Val)
c.70070G>T (p.Gly23357Val)
c.69869G>T (p.Gly23290Val)
c.69494G>T (p.Gly23165Val)
c.96689G>T (p.Gly32230Val)
c.91766G>T (p.Gly30589Val)
n.446+19648C>A
n.2043+923C>A
c.95786G>T (p.Gly31929Val)
c.69680G>T (p.Gly23227Val)
c.69539G>T (p.Gly23180Val)
c.95582G>T (p.Gly31861Val)
c.90980G>T (p.Gly30327Val)
c.90977G>T (p.Gly30326Val)
c.88019G>T (p.Gly29340Val)
c.69635G>T (p.Gly23212Val)
c.91130G>T (p.Gly30377Val)
c.91127G>T (p.Gly30376Val)
c.90560G>T (p.Gly30187Val)
c.87902G>T (p.Gly29301Val)
c.87821G>T (p.Gly29274Val)
c.69584G>T (p.Gly23195Val)
c.59438G>T (p.Gly19813Val)
2g.178543284C=CA1310520621TTN,TTN-AS1c.88985G= (p.Gly29662=)
c.70070G= (p.Gly23357=)
c.69869G= (p.Gly23290=)
c.69494G= (p.Gly23165=)
c.96689G= (p.Gly32230=)
c.91766G= (p.Gly30589=)
n.446+19648C=
n.2043+923C=
c.95786G= (p.Gly31929=)
c.69680G= (p.Gly23227=)
c.69539G= (p.Gly23180=)
c.95582G= (p.Gly31861=)
c.90980G= (p.Gly30327=)
c.90977G= (p.Gly30326=)
c.88019G= (p.Gly29340=)
c.69635G= (p.Gly23212=)
c.91130G= (p.Gly30377=)
c.91127G= (p.Gly30376=)
c.90560G= (p.Gly30187=)
c.87902G= (p.Gly29301=)
c.87821G= (p.Gly29274=)
c.69584G= (p.Gly23195=)
c.59438G= (p.Gly19813=)
2g.178543284C>GCA349445919TTN,TTN-AS1c.88985G>C (p.Gly29662Ala)
c.70070G>C (p.Gly23357Ala)
c.69869G>C (p.Gly23290Ala)
c.69494G>C (p.Gly23165Ala)
c.96689G>C (p.Gly32230Ala)
c.91766G>C (p.Gly30589Ala)
n.446+19648C>G
n.2043+923C>G
c.95786G>C (p.Gly31929Ala)
c.69680G>C (p.Gly23227Ala)
c.69539G>C (p.Gly23180Ala)
c.95582G>C (p.Gly31861Ala)
c.90980G>C (p.Gly30327Ala)
c.90977G>C (p.Gly30326Ala)
c.88019G>C (p.Gly29340Ala)
c.69635G>C (p.Gly23212Ala)
c.91130G>C (p.Gly30377Ala)
c.91127G>C (p.Gly30376Ala)
c.90560G>C (p.Gly30187Ala)
c.87902G>C (p.Gly29301Ala)
c.87821G>C (p.Gly29274Ala)
c.69584G>C (p.Gly23195Ala)
c.59438G>C (p.Gly19813Ala)
2g.178543284C>TCA349445920TTN,TTN-AS1c.88985G>A (p.Gly29662Asp)
c.70070G>A (p.Gly23357Asp)
c.69869G>A (p.Gly23290Asp)
c.69494G>A (p.Gly23165Asp)
c.96689G>A (p.Gly32230Asp)
c.91766G>A (p.Gly30589Asp)
n.446+19648C>T
n.2043+923C>T
c.95786G>A (p.Gly31929Asp)
c.69680G>A (p.Gly23227Asp)
c.69539G>A (p.Gly23180Asp)
c.95582G>A (p.Gly31861Asp)
c.90980G>A (p.Gly30327Asp)
c.90977G>A (p.Gly30326Asp)
c.88019G>A (p.Gly29340Asp)
c.69635G>A (p.Gly23212Asp)
c.91130G>A (p.Gly30377Asp)
c.91127G>A (p.Gly30376Asp)
c.90560G>A (p.Gly30187Asp)
c.87902G>A (p.Gly29301Asp)
c.87821G>A (p.Gly29274Asp)
c.69584G>A (p.Gly23195Asp)
c.59438G>A (p.Gly19813Asp)
 dbSNP
2g.178543285C>ACA349445922TTN,TTN-AS1c.88984G>T (p.Gly29662Cys)
c.70069G>T (p.Gly23357Cys)
c.69868G>T (p.Gly23290Cys)
c.69493G>T (p.Gly23165Cys)
c.96688G>T (p.Gly32230Cys)
c.91765G>T (p.Gly30589Cys)
n.446+19649C>A
n.2043+924C>A
c.95785G>T (p.Gly31929Cys)
c.69679G>T (p.Gly23227Cys)
c.69538G>T (p.Gly23180Cys)
c.95581G>T (p.Gly31861Cys)
c.90979G>T (p.Gly30327Cys)
c.90976G>T (p.Gly30326Cys)
c.88018G>T (p.Gly29340Cys)
c.69634G>T (p.Gly23212Cys)
c.91129G>T (p.Gly30377Cys)
c.91126G>T (p.Gly30376Cys)
c.90559G>T (p.Gly30187Cys)
c.87901G>T (p.Gly29301Cys)
c.87820G>T (p.Gly29274Cys)
c.69583G>T (p.Gly23195Cys)
c.59437G>T (p.Gly19813Cys)
2g.178543285C>GCA349445923TTN,TTN-AS1c.88984G>C (p.Gly29662Arg)
c.70069G>C (p.Gly23357Arg)
c.69868G>C (p.Gly23290Arg)
c.69493G>C (p.Gly23165Arg)
c.96688G>C (p.Gly32230Arg)
c.91765G>C (p.Gly30589Arg)
n.446+19649C>G
n.2043+924C>G
c.95785G>C (p.Gly31929Arg)
c.69679G>C (p.Gly23227Arg)
c.69538G>C (p.Gly23180Arg)
c.95581G>C (p.Gly31861Arg)
c.90979G>C (p.Gly30327Arg)
c.90976G>C (p.Gly30326Arg)
c.88018G>C (p.Gly29340Arg)
c.69634G>C (p.Gly23212Arg)
c.91129G>C (p.Gly30377Arg)
c.91126G>C (p.Gly30376Arg)
c.90559G>C (p.Gly30187Arg)
c.87901G>C (p.Gly29301Arg)
c.87820G>C (p.Gly29274Arg)
c.69583G>C (p.Gly23195Arg)
c.59437G>C (p.Gly19813Arg)
2g.178543285C>TCA349445925TTN,TTN-AS1c.88984G>A (p.Gly29662Ser)
c.70069G>A (p.Gly23357Ser)
c.69868G>A (p.Gly23290Ser)
c.69493G>A (p.Gly23165Ser)
c.96688G>A (p.Gly32230Ser)
c.91765G>A (p.Gly30589Ser)
n.446+19649C>T
n.2043+924C>T
c.95785G>A (p.Gly31929Ser)
c.69679G>A (p.Gly23227Ser)
c.69538G>A (p.Gly23180Ser)
c.95581G>A (p.Gly31861Ser)
c.90979G>A (p.Gly30327Ser)
c.90976G>A (p.Gly30326Ser)
c.88018G>A (p.Gly29340Ser)
c.69634G>A (p.Gly23212Ser)
c.91129G>A (p.Gly30377Ser)
c.91126G>A (p.Gly30376Ser)
c.90559G>A (p.Gly30187Ser)
c.87901G>A (p.Gly29301Ser)
c.87820G>A (p.Gly29274Ser)
c.69583G>A (p.Gly23195Ser)
c.59437G>A (p.Gly19813Ser)
 gnomAD v4
2g.178543286A>CCA349445926TTN,TTN-AS1c.88983T>G (p.Asp29661Glu)
c.70068T>G (p.Asp23356Glu)
c.69867T>G (p.Asp23289Glu)
c.69492T>G (p.Asp23164Glu)
c.96687T>G (p.Asp32229Glu)
c.91764T>G (p.Asp30588Glu)
n.446+19650A>C
n.2043+925A>C
c.95784T>G (p.Asp31928Glu)
c.69678T>G (p.Asp23226Glu)
c.69537T>G (p.Asp23179Glu)
c.95580T>G (p.Asp31860Glu)
c.90978T>G (p.Asp30326Glu)
c.90975T>G (p.Asp30325Glu)
c.88017T>G (p.Asp29339Glu)
c.69633T>G (p.Asp23211Glu)
c.91128T>G (p.Asp30376Glu)
c.91125T>G (p.Asp30375Glu)
c.90558T>G (p.Asp30186Glu)
c.87900T>G (p.Asp29300Glu)
c.87819T>G (p.Asp29273Glu)
c.69582T>G (p.Asp23194Glu)
c.59436T>G (p.Asp19812Glu)
2g.178543286A>GCA430241311TTN,TTN-AS1c.88983T>C (p.Asp29661=)
c.70068T>C (p.Asp23356=)
c.69867T>C (p.Asp23289=)
c.69492T>C (p.Asp23164=)
c.96687T>C (p.Asp32229=)
c.91764T>C (p.Asp30588=)
n.446+19650A>G
n.2043+925A>G
c.95784T>C (p.Asp31928=)
c.69678T>C (p.Asp23226=)
c.69537T>C (p.Asp23179=)
c.95580T>C (p.Asp31860=)
c.90978T>C (p.Asp30326=)
c.90975T>C (p.Asp30325=)
c.88017T>C (p.Asp29339=)
c.69633T>C (p.Asp23211=)
c.91128T>C (p.Asp30376=)
c.91125T>C (p.Asp30375=)
c.90558T>C (p.Asp30186=)
c.87900T>C (p.Asp29300=)
c.87819T>C (p.Asp29273=)
c.69582T>C (p.Asp23194=)
c.59436T>C (p.Asp19812=)
2g.178543286A>TCA349445928TTN,TTN-AS1c.88983T>A (p.Asp29661Glu)
c.70068T>A (p.Asp23356Glu)
c.69867T>A (p.Asp23289Glu)
c.69492T>A (p.Asp23164Glu)
c.96687T>A (p.Asp32229Glu)
c.91764T>A (p.Asp30588Glu)
n.446+19650A>T
n.2043+925A>T
c.95784T>A (p.Asp31928Glu)
c.69678T>A (p.Asp23226Glu)
c.69537T>A (p.Asp23179Glu)
c.95580T>A (p.Asp31860Glu)
c.90978T>A (p.Asp30326Glu)
c.90975T>A (p.Asp30325Glu)
c.88017T>A (p.Asp29339Glu)
c.69633T>A (p.Asp23211Glu)
c.91128T>A (p.Asp30376Glu)
c.91125T>A (p.Asp30375Glu)
c.90558T>A (p.Asp30186Glu)
c.87900T>A (p.Asp29300Glu)
c.87819T>A (p.Asp29273Glu)
c.69582T>A (p.Asp23194Glu)
c.59436T>A (p.Asp19812Glu)
2g.178543287T>ACA349445933TTN,TTN-AS1c.88982A>T (p.Asp29661Val)
c.70067A>T (p.Asp23356Val)
c.69866A>T (p.Asp23289Val)
c.69491A>T (p.Asp23164Val)
c.96686A>T (p.Asp32229Val)
c.91763A>T (p.Asp30588Val)
n.446+19651T>A
n.2043+926T>A
c.95783A>T (p.Asp31928Val)
c.69677A>T (p.Asp23226Val)
c.69536A>T (p.Asp23179Val)
c.95579A>T (p.Asp31860Val)
c.90977A>T (p.Asp30326Val)
c.90974A>T (p.Asp30325Val)
c.88016A>T (p.Asp29339Val)
c.69632A>T (p.Asp23211Val)
c.91127A>T (p.Asp30376Val)
c.91124A>T (p.Asp30375Val)
c.90557A>T (p.Asp30186Val)
c.87899A>T (p.Asp29300Val)
c.87818A>T (p.Asp29273Val)
c.69581A>T (p.Asp23194Val)
c.59435A>T (p.Asp19812Val)
2g.178543287T>CCA349445937TTN,TTN-AS1c.88982A>G (p.Asp29661Gly)
c.70067A>G (p.Asp23356Gly)
c.69866A>G (p.Asp23289Gly)
c.69491A>G (p.Asp23164Gly)
c.96686A>G (p.Asp32229Gly)
c.91763A>G (p.Asp30588Gly)
n.446+19651T>C
n.2043+926T>C
c.95783A>G (p.Asp31928Gly)
c.69677A>G (p.Asp23226Gly)
c.69536A>G (p.Asp23179Gly)
c.95579A>G (p.Asp31860Gly)
c.90977A>G (p.Asp30326Gly)
c.90974A>G (p.Asp30325Gly)
c.88016A>G (p.Asp29339Gly)
c.69632A>G (p.Asp23211Gly)
c.91127A>G (p.Asp30376Gly)
c.91124A>G (p.Asp30375Gly)
c.90557A>G (p.Asp30186Gly)
c.87899A>G (p.Asp29300Gly)
c.87818A>G (p.Asp29273Gly)
c.69581A>G (p.Asp23194Gly)
c.59435A>G (p.Asp19812Gly)
2g.178543287T>GCA349445936TTN,TTN-AS1c.88982A>C (p.Asp29661Ala)
c.70067A>C (p.Asp23356Ala)
c.69866A>C (p.Asp23289Ala)
c.69491A>C (p.Asp23164Ala)
c.96686A>C (p.Asp32229Ala)
c.91763A>C (p.Asp30588Ala)
n.446+19651T>G
n.2043+926T>G
c.95783A>C (p.Asp31928Ala)
c.69677A>C (p.Asp23226Ala)
c.69536A>C (p.Asp23179Ala)
c.95579A>C (p.Asp31860Ala)
c.90977A>C (p.Asp30326Ala)
c.90974A>C (p.Asp30325Ala)
c.88016A>C (p.Asp29339Ala)
c.69632A>C (p.Asp23211Ala)
c.91127A>C (p.Asp30376Ala)
c.91124A>C (p.Asp30375Ala)
c.90557A>C (p.Asp30186Ala)
c.87899A>C (p.Asp29300Ala)
c.87818A>C (p.Asp29273Ala)
c.69581A>C (p.Asp23194Ala)
c.59435A>C (p.Asp19812Ala)
2g.178543288C>ACA349445941TTN,TTN-AS1c.88981G>T (p.Asp29661Tyr)
c.70066G>T (p.Asp23356Tyr)
c.69865G>T (p.Asp23289Tyr)
c.69490G>T (p.Asp23164Tyr)
c.96685G>T (p.Asp32229Tyr)
c.91762G>T (p.Asp30588Tyr)
n.446+19652C>A
n.2043+927C>A
c.95782G>T (p.Asp31928Tyr)
c.69676G>T (p.Asp23226Tyr)
c.69535G>T (p.Asp23179Tyr)
c.95578G>T (p.Asp31860Tyr)
c.90976G>T (p.Asp30326Tyr)
c.90973G>T (p.Asp30325Tyr)
c.88015G>T (p.Asp29339Tyr)
c.69631G>T (p.Asp23211Tyr)
c.91126G>T (p.Asp30376Tyr)
c.91123G>T (p.Asp30375Tyr)
c.90556G>T (p.Asp30186Tyr)
c.87898G>T (p.Asp29300Tyr)
c.87817G>T (p.Asp29273Tyr)
c.69580G>T (p.Asp23194Tyr)
c.59434G>T (p.Asp19812Tyr)
2g.178543288C=CA1310520623TTN,TTN-AS1c.88981G= (p.Asp29661=)
c.70066G= (p.Asp23356=)
c.69865G= (p.Asp23289=)
c.69490G= (p.Asp23164=)
c.96685G= (p.Asp32229=)
c.91762G= (p.Asp30588=)
n.446+19652C=
n.2043+927C=
c.95782G= (p.Asp31928=)
c.69676G= (p.Asp23226=)
c.69535G= (p.Asp23179=)
c.95578G= (p.Asp31860=)
c.90976G= (p.Asp30326=)
c.90973G= (p.Asp30325=)
c.88015G= (p.Asp29339=)
c.69631G= (p.Asp23211=)
c.91126G= (p.Asp30376=)
c.91123G= (p.Asp30375=)
c.90556G= (p.Asp30186=)
c.87898G= (p.Asp29300=)
c.87817G= (p.Asp29273=)
c.69580G= (p.Asp23194=)
c.59434G= (p.Asp19812=)
2g.178543288C>GCA349445945TTN,TTN-AS1c.88981G>C (p.Asp29661His)
c.70066G>C (p.Asp23356His)
c.69865G>C (p.Asp23289His)
c.69490G>C (p.Asp23164His)
c.96685G>C (p.Asp32229His)
c.91762G>C (p.Asp30588His)
n.446+19652C>G
n.2043+927C>G
c.95782G>C (p.Asp31928His)
c.69676G>C (p.Asp23226His)
c.69535G>C (p.Asp23179His)
c.95578G>C (p.Asp31860His)
c.90976G>C (p.Asp30326His)
c.90973G>C (p.Asp30325His)
c.88015G>C (p.Asp29339His)
c.69631G>C (p.Asp23211His)
c.91126G>C (p.Asp30376His)
c.91123G>C (p.Asp30375His)
c.90556G>C (p.Asp30186His)
c.87898G>C (p.Asp29300His)
c.87817G>C (p.Asp29273His)
c.69580G>C (p.Asp23194His)
c.59434G>C (p.Asp19812His)
2g.178543288C>TCA1986725TTN,TTN-AS1c.88981G>A (p.Asp29661Asn)
c.70066G>A (p.Asp23356Asn)
c.69865G>A (p.Asp23289Asn)
c.69490G>A (p.Asp23164Asn)
c.96685G>A (p.Asp32229Asn)
c.91762G>A (p.Asp30588Asn)
n.446+19652C>T
n.2043+927C>T
c.95782G>A (p.Asp31928Asn)
c.69676G>A (p.Asp23226Asn)
c.69535G>A (p.Asp23179Asn)
c.95578G>A (p.Asp31860Asn)
c.90976G>A (p.Asp30326Asn)
c.90973G>A (p.Asp30325Asn)
c.88015G>A (p.Asp29339Asn)
c.69631G>A (p.Asp23211Asn)
c.91126G>A (p.Asp30376Asn)
c.91123G>A (p.Asp30375Asn)
c.90556G>A (p.Asp30186Asn)
c.87898G>A (p.Asp29300Asn)
c.87817G>A (p.Asp29273Asn)
c.69580G>A (p.Asp23194Asn)
c.59434G>A (p.Asp19812Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543289G>ACA291485TTN,TTN-AS1c.88980C>T (p.Tyr29660=)
c.70065C>T (p.Tyr23355=)
c.69864C>T (p.Tyr23288=)
c.69489C>T (p.Tyr23163=)
c.96684C>T (p.Tyr32228=)
c.91761C>T (p.Tyr30587=)
n.446+19653G>A
n.2043+928G>A
c.95781C>T (p.Tyr31927=)
c.69675C>T (p.Tyr23225=)
c.69534C>T (p.Tyr23178=)
c.95577C>T (p.Tyr31859=)
c.90975C>T (p.Tyr30325=)
c.90972C>T (p.Tyr30324=)
c.88014C>T (p.Tyr29338=)
c.69630C>T (p.Tyr23210=)
c.91125C>T (p.Tyr30375=)
c.91122C>T (p.Tyr30374=)
c.90555C>T (p.Tyr30185=)
c.87897C>T (p.Tyr29299=)
c.87816C>T (p.Tyr29272=)
c.69579C>T (p.Tyr23193=)
c.59433C>T (p.Tyr19811=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543289G>CCA349445971TTN,TTN-AS1c.88980C>G (p.Tyr29660Ter)
c.70065C>G (p.Tyr23355Ter)
c.69864C>G (p.Tyr23288Ter)
c.69489C>G (p.Tyr23163Ter)
c.96684C>G (p.Tyr32228Ter)
c.91761C>G (p.Tyr30587Ter)
n.446+19653G>C
n.2043+928G>C
c.95781C>G (p.Tyr31927Ter)
c.69675C>G (p.Tyr23225Ter)
c.69534C>G (p.Tyr23178Ter)
c.95577C>G (p.Tyr31859Ter)
c.90975C>G (p.Tyr30325Ter)
c.90972C>G (p.Tyr30324Ter)
c.88014C>G (p.Tyr29338Ter)
c.69630C>G (p.Tyr23210Ter)
c.91125C>G (p.Tyr30375Ter)
c.91122C>G (p.Tyr30374Ter)
c.90555C>G (p.Tyr30185Ter)
c.87897C>G (p.Tyr29299Ter)
c.87816C>G (p.Tyr29272Ter)
c.69579C>G (p.Tyr23193Ter)
c.59433C>G (p.Tyr19811Ter)
2g.178543289G=CA1310520625TTN,TTN-AS1c.88980C= (p.Tyr29660=)
c.70065C= (p.Tyr23355=)
c.69864C= (p.Tyr23288=)
c.69489C= (p.Tyr23163=)
c.96684C= (p.Tyr32228=)
c.91761C= (p.Tyr30587=)
n.446+19653G=
n.2043+928G=
c.95781C= (p.Tyr31927=)
c.69675C= (p.Tyr23225=)
c.69534C= (p.Tyr23178=)
c.95577C= (p.Tyr31859=)
c.90975C= (p.Tyr30325=)
c.90972C= (p.Tyr30324=)
c.88014C= (p.Tyr29338=)
c.69630C= (p.Tyr23210=)
c.91125C= (p.Tyr30375=)
c.91122C= (p.Tyr30374=)
c.90555C= (p.Tyr30185=)
c.87897C= (p.Tyr29299=)
c.87816C= (p.Tyr29272=)
c.69579C= (p.Tyr23193=)
c.59433C= (p.Tyr19811=)
2g.178543289G>TCA349445976TTN,TTN-AS1c.88980C>A (p.Tyr29660Ter)
c.70065C>A (p.Tyr23355Ter)
c.69864C>A (p.Tyr23288Ter)
c.69489C>A (p.Tyr23163Ter)
c.96684C>A (p.Tyr32228Ter)
c.91761C>A (p.Tyr30587Ter)
n.446+19653G>T
n.2043+928G>T
c.95781C>A (p.Tyr31927Ter)
c.69675C>A (p.Tyr23225Ter)
c.69534C>A (p.Tyr23178Ter)
c.95577C>A (p.Tyr31859Ter)
c.90975C>A (p.Tyr30325Ter)
c.90972C>A (p.Tyr30324Ter)
c.88014C>A (p.Tyr29338Ter)
c.69630C>A (p.Tyr23210Ter)
c.91125C>A (p.Tyr30375Ter)
c.91122C>A (p.Tyr30374Ter)
c.90555C>A (p.Tyr30185Ter)
c.87897C>A (p.Tyr29299Ter)
c.87816C>A (p.Tyr29272Ter)
c.69579C>A (p.Tyr23193Ter)
c.59433C>A (p.Tyr19811Ter)
2g.178543291_178543295delCA2580064631TTN,TTN-AS1c.88976_88980del (p.Leu29659ArgfsTer4)
c.70061_70065del (p.Leu23354ArgfsTer4)
c.69860_69864del (p.Leu23287ArgfsTer4)
c.69485_69489del (p.Leu23162ArgfsTer4)
c.96680_96684del (p.Leu32227ArgfsTer4)
c.91757_91761del (p.Leu30586ArgfsTer4)
n.446+19655_446+19659del
n.2043+930_2043+934del
c.95777_95781del (p.Leu31926ArgfsTer4)
c.69671_69675del (p.Leu23224ArgfsTer4)
c.69530_69534del (p.Leu23177ArgfsTer4)
c.95573_95577del (p.Leu31858ArgfsTer4)
c.90971_90975del (p.Leu30324ArgfsTer4)
c.90968_90972del (p.Leu30323ArgfsTer4)
c.88010_88014del (p.Leu29337ArgfsTer4)
c.69626_69630del (p.Leu23209ArgfsTer4)
c.91121_91125del (p.Leu30374ArgfsTer4)
c.91118_91122del (p.Leu30373ArgfsTer4)
c.90551_90555del (p.Leu30184ArgfsTer4)
c.87893_87897del (p.Leu29298ArgfsTer4)
c.87812_87816del (p.Leu29271ArgfsTer4)
c.69575_69579del (p.Leu23192ArgfsTer4)
c.59429_59433del (p.Leu19810ArgfsTer4)
 ClinVar
2g.178543290T>ACA349445979TTN,TTN-AS1c.88979A>T (p.Tyr29660Phe)
c.70064A>T (p.Tyr23355Phe)
c.69863A>T (p.Tyr23288Phe)
c.69488A>T (p.Tyr23163Phe)
c.96683A>T (p.Tyr32228Phe)
c.91760A>T (p.Tyr30587Phe)
n.446+19654T>A
n.2043+929T>A
c.95780A>T (p.Tyr31927Phe)
c.69674A>T (p.Tyr23225Phe)
c.69533A>T (p.Tyr23178Phe)
c.95576A>T (p.Tyr31859Phe)
c.90974A>T (p.Tyr30325Phe)
c.90971A>T (p.Tyr30324Phe)
c.88013A>T (p.Tyr29338Phe)
c.69629A>T (p.Tyr23210Phe)
c.91124A>T (p.Tyr30375Phe)
c.91121A>T (p.Tyr30374Phe)
c.90554A>T (p.Tyr30185Phe)
c.87896A>T (p.Tyr29299Phe)
c.87815A>T (p.Tyr29272Phe)
c.69578A>T (p.Tyr23193Phe)
c.59432A>T (p.Tyr19811Phe)
2g.178543290T>CCA349445982TTN,TTN-AS1c.88979A>G (p.Tyr29660Cys)
c.70064A>G (p.Tyr23355Cys)
c.69863A>G (p.Tyr23288Cys)
c.69488A>G (p.Tyr23163Cys)
c.96683A>G (p.Tyr32228Cys)
c.91760A>G (p.Tyr30587Cys)
n.446+19654T>C
n.2043+929T>C
c.95780A>G (p.Tyr31927Cys)
c.69674A>G (p.Tyr23225Cys)
c.69533A>G (p.Tyr23178Cys)
c.95576A>G (p.Tyr31859Cys)
c.90974A>G (p.Tyr30325Cys)
c.90971A>G (p.Tyr30324Cys)
c.88013A>G (p.Tyr29338Cys)
c.69629A>G (p.Tyr23210Cys)
c.91124A>G (p.Tyr30375Cys)
c.91121A>G (p.Tyr30374Cys)
c.90554A>G (p.Tyr30185Cys)
c.87896A>G (p.Tyr29299Cys)
c.87815A>G (p.Tyr29272Cys)
c.69578A>G (p.Tyr23193Cys)
c.59432A>G (p.Tyr19811Cys)
2g.178543290T>GCA349445984TTN,TTN-AS1c.88979A>C (p.Tyr29660Ser)
c.70064A>C (p.Tyr23355Ser)
c.69863A>C (p.Tyr23288Ser)
c.69488A>C (p.Tyr23163Ser)
c.96683A>C (p.Tyr32228Ser)
c.91760A>C (p.Tyr30587Ser)
n.446+19654T>G
n.2043+929T>G
c.95780A>C (p.Tyr31927Ser)
c.69674A>C (p.Tyr23225Ser)
c.69533A>C (p.Tyr23178Ser)
c.95576A>C (p.Tyr31859Ser)
c.90974A>C (p.Tyr30325Ser)
c.90971A>C (p.Tyr30324Ser)
c.88013A>C (p.Tyr29338Ser)
c.69629A>C (p.Tyr23210Ser)
c.91124A>C (p.Tyr30375Ser)
c.91121A>C (p.Tyr30374Ser)
c.90554A>C (p.Tyr30185Ser)
c.87896A>C (p.Tyr29299Ser)
c.87815A>C (p.Tyr29272Ser)
c.69578A>C (p.Tyr23193Ser)
c.59432A>C (p.Tyr19811Ser)
2g.178543291A=CA1310520627TTN,TTN-AS1c.88978T= (p.Tyr29660=)
c.70063T= (p.Tyr23355=)
c.69862T= (p.Tyr23288=)
c.69487T= (p.Tyr23163=)
c.96682T= (p.Tyr32228=)
c.91759T= (p.Tyr30587=)
n.446+19655A=
n.2043+930A=
c.95779T= (p.Tyr31927=)
c.69673T= (p.Tyr23225=)
c.69532T= (p.Tyr23178=)
c.95575T= (p.Tyr31859=)
c.90973T= (p.Tyr30325=)
c.90970T= (p.Tyr30324=)
c.88012T= (p.Tyr29338=)
c.69628T= (p.Tyr23210=)
c.91123T= (p.Tyr30375=)
c.91120T= (p.Tyr30374=)
c.90553T= (p.Tyr30185=)
c.87895T= (p.Tyr29299=)
c.87814T= (p.Tyr29272=)
c.69577T= (p.Tyr23193=)
c.59431T= (p.Tyr19811=)
2g.178543291A>CCA349445988TTN,TTN-AS1c.88978T>G (p.Tyr29660Asp)
c.70063T>G (p.Tyr23355Asp)
c.69862T>G (p.Tyr23288Asp)
c.69487T>G (p.Tyr23163Asp)
c.96682T>G (p.Tyr32228Asp)
c.91759T>G (p.Tyr30587Asp)
n.446+19655A>C
n.2043+930A>C
c.95779T>G (p.Tyr31927Asp)
c.69673T>G (p.Tyr23225Asp)
c.69532T>G (p.Tyr23178Asp)
c.95575T>G (p.Tyr31859Asp)
c.90973T>G (p.Tyr30325Asp)
c.90970T>G (p.Tyr30324Asp)
c.88012T>G (p.Tyr29338Asp)
c.69628T>G (p.Tyr23210Asp)
c.91123T>G (p.Tyr30375Asp)
c.91120T>G (p.Tyr30374Asp)
c.90553T>G (p.Tyr30185Asp)
c.87895T>G (p.Tyr29299Asp)
c.87814T>G (p.Tyr29272Asp)
c.69577T>G (p.Tyr23193Asp)
c.59431T>G (p.Tyr19811Asp)
 gnomAD v4
2g.178543291A>GCA349445990TTN,TTN-AS1c.88978T>C (p.Tyr29660His)
c.70063T>C (p.Tyr23355His)
c.69862T>C (p.Tyr23288His)
c.69487T>C (p.Tyr23163His)
c.96682T>C (p.Tyr32228His)
c.91759T>C (p.Tyr30587His)
n.446+19655A>G
n.2043+930A>G
c.95779T>C (p.Tyr31927His)
c.69673T>C (p.Tyr23225His)
c.69532T>C (p.Tyr23178His)
c.95575T>C (p.Tyr31859His)
c.90973T>C (p.Tyr30325His)
c.90970T>C (p.Tyr30324His)
c.88012T>C (p.Tyr29338His)
c.69628T>C (p.Tyr23210His)
c.91123T>C (p.Tyr30375His)
c.91120T>C (p.Tyr30374His)
c.90553T>C (p.Tyr30185His)
c.87895T>C (p.Tyr29299His)
c.87814T>C (p.Tyr29272His)
c.69577T>C (p.Tyr23193His)
c.59431T>C (p.Tyr19811His)
 gnomAD v4
2g.178543291A>TCA349445996TTN,TTN-AS1c.88978T>A (p.Tyr29660Asn)
c.70063T>A (p.Tyr23355Asn)
c.69862T>A (p.Tyr23288Asn)
c.69487T>A (p.Tyr23163Asn)
c.96682T>A (p.Tyr32228Asn)
c.91759T>A (p.Tyr30587Asn)
n.446+19655A>T
n.2043+930A>T
c.95779T>A (p.Tyr31927Asn)
c.69673T>A (p.Tyr23225Asn)
c.69532T>A (p.Tyr23178Asn)
c.95575T>A (p.Tyr31859Asn)
c.90973T>A (p.Tyr30325Asn)
c.90970T>A (p.Tyr30324Asn)
c.88012T>A (p.Tyr29338Asn)
c.69628T>A (p.Tyr23210Asn)
c.91123T>A (p.Tyr30375Asn)
c.91120T>A (p.Tyr30374Asn)
c.90553T>A (p.Tyr30185Asn)
c.87895T>A (p.Tyr29299Asn)
c.87814T>A (p.Tyr29272Asn)
c.69577T>A (p.Tyr23193Asn)
c.59431T>A (p.Tyr19811Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543291dupCA2499215290TTN,TTN-AS1c.88978dup (p.Tyr29660LeufsTer5)
c.70063dup (p.Tyr23355LeufsTer5)
c.69862dup (p.Tyr23288LeufsTer5)
c.69487dup (p.Tyr23163LeufsTer5)
c.96682dup (p.Tyr32228LeufsTer5)
c.91759dup (p.Tyr30587LeufsTer5)
n.446+19655dup
n.2043+930dup
c.95779dup (p.Tyr31927LeufsTer5)
c.69673dup (p.Tyr23225LeufsTer5)
c.69532dup (p.Tyr23178LeufsTer5)
c.95575dup (p.Tyr31859LeufsTer5)
c.90973dup (p.Tyr30325LeufsTer5)
c.90970dup (p.Tyr30324LeufsTer5)
c.88012dup (p.Tyr29338LeufsTer5)
c.69628dup (p.Tyr23210LeufsTer5)
c.91123dup (p.Tyr30375LeufsTer5)
c.91120dup (p.Tyr30374LeufsTer5)
c.90553dup (p.Tyr30185LeufsTer5)
c.87895dup (p.Tyr29299LeufsTer5)
c.87814dup (p.Tyr29272LeufsTer5)
c.69577dup (p.Tyr23193LeufsTer5)
c.59431dup (p.Tyr19811LeufsTer5)
 ClinVar dbSNP
2g.178543292G>ACA430241316TTN,TTN-AS1c.88977C>T (p.Leu29659=)
c.70062C>T (p.Leu23354=)
c.69861C>T (p.Leu23287=)
c.69486C>T (p.Leu23162=)
c.96681C>T (p.Leu32227=)
c.91758C>T (p.Leu30586=)
n.446+19656G>A
n.2043+931G>A
c.95778C>T (p.Leu31926=)
c.69672C>T (p.Leu23224=)
c.69531C>T (p.Leu23177=)
c.95574C>T (p.Leu31858=)
c.90972C>T (p.Leu30324=)
c.90969C>T (p.Leu30323=)
c.88011C>T (p.Leu29337=)
c.69627C>T (p.Leu23209=)
c.91122C>T (p.Leu30374=)
c.91119C>T (p.Leu30373=)
c.90552C>T (p.Leu30184=)
c.87894C>T (p.Leu29298=)
c.87813C>T (p.Leu29271=)
c.69576C>T (p.Leu23192=)
c.59430C>T (p.Leu19810=)
2g.178543292G>CCA430241318TTN,TTN-AS1c.88977C>G (p.Leu29659=)
c.70062C>G (p.Leu23354=)
c.69861C>G (p.Leu23287=)
c.69486C>G (p.Leu23162=)
c.96681C>G (p.Leu32227=)
c.91758C>G (p.Leu30586=)
n.446+19656G>C
n.2043+931G>C
c.95778C>G (p.Leu31926=)
c.69672C>G (p.Leu23224=)
c.69531C>G (p.Leu23177=)
c.95574C>G (p.Leu31858=)
c.90972C>G (p.Leu30324=)
c.90969C>G (p.Leu30323=)
c.88011C>G (p.Leu29337=)
c.69627C>G (p.Leu23209=)
c.91122C>G (p.Leu30374=)
c.91119C>G (p.Leu30373=)
c.90552C>G (p.Leu30184=)
c.87894C>G (p.Leu29298=)
c.87813C>G (p.Leu29271=)
c.69576C>G (p.Leu23192=)
c.59430C>G (p.Leu19810=)
 ClinVar
2g.178543292G>TCA430241319TTN,TTN-AS1c.88977C>A (p.Leu29659=)
c.70062C>A (p.Leu23354=)
c.69861C>A (p.Leu23287=)
c.69486C>A (p.Leu23162=)
c.96681C>A (p.Leu32227=)
c.91758C>A (p.Leu30586=)
n.446+19656G>T
n.2043+931G>T
c.95778C>A (p.Leu31926=)
c.69672C>A (p.Leu23224=)
c.69531C>A (p.Leu23177=)
c.95574C>A (p.Leu31858=)
c.90972C>A (p.Leu30324=)
c.90969C>A (p.Leu30323=)
c.88011C>A (p.Leu29337=)
c.69627C>A (p.Leu23209=)
c.91122C>A (p.Leu30374=)
c.91119C>A (p.Leu30373=)
c.90552C>A (p.Leu30184=)
c.87894C>A (p.Leu29298=)
c.87813C>A (p.Leu29271=)
c.69576C>A (p.Leu23192=)
c.59430C>A (p.Leu19810=)
2g.178543293A>CCA349446012TTN,TTN-AS1c.88976T>G (p.Leu29659Arg)
c.70061T>G (p.Leu23354Arg)
c.69860T>G (p.Leu23287Arg)
c.69485T>G (p.Leu23162Arg)
c.96680T>G (p.Leu32227Arg)
c.91757T>G (p.Leu30586Arg)
n.446+19657A>C
n.2043+932A>C
c.95777T>G (p.Leu31926Arg)
c.69671T>G (p.Leu23224Arg)
c.69530T>G (p.Leu23177Arg)
c.95573T>G (p.Leu31858Arg)
c.90971T>G (p.Leu30324Arg)
c.90968T>G (p.Leu30323Arg)
c.88010T>G (p.Leu29337Arg)
c.69626T>G (p.Leu23209Arg)
c.91121T>G (p.Leu30374Arg)
c.91118T>G (p.Leu30373Arg)
c.90551T>G (p.Leu30184Arg)
c.87893T>G (p.Leu29298Arg)
c.87812T>G (p.Leu29271Arg)
c.69575T>G (p.Leu23192Arg)
c.59429T>G (p.Leu19810Arg)
2g.178543293A>GCA349446009TTN,TTN-AS1c.88976T>C (p.Leu29659Pro)
c.70061T>C (p.Leu23354Pro)
c.69860T>C (p.Leu23287Pro)
c.69485T>C (p.Leu23162Pro)
c.96680T>C (p.Leu32227Pro)
c.91757T>C (p.Leu30586Pro)
n.446+19657A>G
n.2043+932A>G
c.95777T>C (p.Leu31926Pro)
c.69671T>C (p.Leu23224Pro)
c.69530T>C (p.Leu23177Pro)
c.95573T>C (p.Leu31858Pro)
c.90971T>C (p.Leu30324Pro)
c.90968T>C (p.Leu30323Pro)
c.88010T>C (p.Leu29337Pro)
c.69626T>C (p.Leu23209Pro)
c.91121T>C (p.Leu30374Pro)
c.91118T>C (p.Leu30373Pro)
c.90551T>C (p.Leu30184Pro)
c.87893T>C (p.Leu29298Pro)
c.87812T>C (p.Leu29271Pro)
c.69575T>C (p.Leu23192Pro)
c.59429T>C (p.Leu19810Pro)
2g.178543293A>TCA349446003TTN,TTN-AS1c.88976T>A (p.Leu29659His)
c.70061T>A (p.Leu23354His)
c.69860T>A (p.Leu23287His)
c.69485T>A (p.Leu23162His)
c.96680T>A (p.Leu32227His)
c.91757T>A (p.Leu30586His)
n.446+19657A>T
n.2043+932A>T
c.95777T>A (p.Leu31926His)
c.69671T>A (p.Leu23224His)
c.69530T>A (p.Leu23177His)
c.95573T>A (p.Leu31858His)
c.90971T>A (p.Leu30324His)
c.90968T>A (p.Leu30323His)
c.88010T>A (p.Leu29337His)
c.69626T>A (p.Leu23209His)
c.91121T>A (p.Leu30374His)
c.91118T>A (p.Leu30373His)
c.90551T>A (p.Leu30184His)
c.87893T>A (p.Leu29298His)
c.87812T>A (p.Leu29271His)
c.69575T>A (p.Leu23192His)
c.59429T>A (p.Leu19810His)
2g.178543294delCA2573134088TTN,TTN-AS1c.88975del (p.Leu29659SerfsTer24)
c.70060del (p.Leu23354SerfsTer24)
c.69859del (p.Leu23287SerfsTer24)
c.69484del (p.Leu23162SerfsTer24)
c.96679del (p.Leu32227SerfsTer24)
c.91756del (p.Leu30586SerfsTer24)
n.446+19658del
n.2043+933del
c.95776del (p.Leu31926SerfsTer24)
c.69670del (p.Leu23224SerfsTer24)
c.69529del (p.Leu23177SerfsTer24)
c.95572del (p.Leu31858SerfsTer24)
c.90970del (p.Leu30324SerfsTer24)
c.90967del (p.Leu30323SerfsTer24)
c.88009del (p.Leu29337SerfsTer24)
c.69625del (p.Leu23209SerfsTer24)
c.91120del (p.Leu30374SerfsTer24)
c.91117del (p.Leu30373SerfsTer24)
c.90550del (p.Leu30184SerfsTer24)
c.87892del (p.Leu29298SerfsTer24)
c.87811del (p.Leu29271SerfsTer24)
c.69574del (p.Leu23192SerfsTer24)
c.59428del (p.Leu19810SerfsTer24)
 ClinVar dbSNP gnomAD v4
2g.178543294G>ACA349446014TTN,TTN-AS1c.88975C>T (p.Leu29659Phe)
c.70060C>T (p.Leu23354Phe)
c.69859C>T (p.Leu23287Phe)
c.69484C>T (p.Leu23162Phe)
c.96679C>T (p.Leu32227Phe)
c.91756C>T (p.Leu30586Phe)
n.446+19658G>A
n.2043+933G>A
c.95776C>T (p.Leu31926Phe)
c.69670C>T (p.Leu23224Phe)
c.69529C>T (p.Leu23177Phe)
c.95572C>T (p.Leu31858Phe)
c.90970C>T (p.Leu30324Phe)
c.90967C>T (p.Leu30323Phe)
c.88009C>T (p.Leu29337Phe)
c.69625C>T (p.Leu23209Phe)
c.91120C>T (p.Leu30374Phe)
c.91117C>T (p.Leu30373Phe)
c.90550C>T (p.Leu30184Phe)
c.87892C>T (p.Leu29298Phe)
c.87811C>T (p.Leu29271Phe)
c.69574C>T (p.Leu23192Phe)
c.59428C>T (p.Leu19810Phe)
2g.178543294G>CCA349446024TTN,TTN-AS1c.88975C>G (p.Leu29659Val)
c.70060C>G (p.Leu23354Val)
c.69859C>G (p.Leu23287Val)
c.69484C>G (p.Leu23162Val)
c.96679C>G (p.Leu32227Val)
c.91756C>G (p.Leu30586Val)
n.446+19658G>C
n.2043+933G>C
c.95776C>G (p.Leu31926Val)
c.69670C>G (p.Leu23224Val)
c.69529C>G (p.Leu23177Val)
c.95572C>G (p.Leu31858Val)
c.90970C>G (p.Leu30324Val)
c.90967C>G (p.Leu30323Val)
c.88009C>G (p.Leu29337Val)
c.69625C>G (p.Leu23209Val)
c.91120C>G (p.Leu30374Val)
c.91117C>G (p.Leu30373Val)
c.90550C>G (p.Leu30184Val)
c.87892C>G (p.Leu29298Val)
c.87811C>G (p.Leu29271Val)
c.69574C>G (p.Leu23192Val)
c.59428C>G (p.Leu19810Val)
2g.178543294G>TCA349446022TTN,TTN-AS1c.88975C>A (p.Leu29659Ile)
c.70060C>A (p.Leu23354Ile)
c.69859C>A (p.Leu23287Ile)
c.69484C>A (p.Leu23162Ile)
c.96679C>A (p.Leu32227Ile)
c.91756C>A (p.Leu30586Ile)
n.446+19658G>T
n.2043+933G>T
c.95776C>A (p.Leu31926Ile)
c.69670C>A (p.Leu23224Ile)
c.69529C>A (p.Leu23177Ile)
c.95572C>A (p.Leu31858Ile)
c.90970C>A (p.Leu30324Ile)
c.90967C>A (p.Leu30323Ile)
c.88009C>A (p.Leu29337Ile)
c.69625C>A (p.Leu23209Ile)
c.91120C>A (p.Leu30374Ile)
c.91117C>A (p.Leu30373Ile)
c.90550C>A (p.Leu30184Ile)
c.87892C>A (p.Leu29298Ile)
c.87811C>A (p.Leu29271Ile)
c.69574C>A (p.Leu23192Ile)
c.59428C>A (p.Leu19810Ile)
2g.178543295T>ACA430241323TTN,TTN-AS1c.88974A>T (p.Pro29658=)
c.70059A>T (p.Pro23353=)
c.69858A>T (p.Pro23286=)
c.69483A>T (p.Pro23161=)
c.96678A>T (p.Pro32226=)
c.91755A>T (p.Pro30585=)
n.446+19659T>A
n.2043+934T>A
c.95775A>T (p.Pro31925=)
c.69669A>T (p.Pro23223=)
c.69528A>T (p.Pro23176=)
c.95571A>T (p.Pro31857=)
c.90969A>T (p.Pro30323=)
c.90966A>T (p.Pro30322=)
c.88008A>T (p.Pro29336=)
c.69624A>T (p.Pro23208=)
c.91119A>T (p.Pro30373=)
c.91116A>T (p.Pro30372=)
c.90549A>T (p.Pro30183=)
c.87891A>T (p.Pro29297=)
c.87810A>T (p.Pro29270=)
c.69573A>T (p.Pro23191=)
c.59427A>T (p.Pro19809=)
2g.178543295T>CCA430241324TTN,TTN-AS1c.88974A>G (p.Pro29658=)
c.70059A>G (p.Pro23353=)
c.69858A>G (p.Pro23286=)
c.69483A>G (p.Pro23161=)
c.96678A>G (p.Pro32226=)
c.91755A>G (p.Pro30585=)
n.446+19659T>C
n.2043+934T>C
c.95775A>G (p.Pro31925=)
c.69669A>G (p.Pro23223=)
c.69528A>G (p.Pro23176=)
c.95571A>G (p.Pro31857=)
c.90969A>G (p.Pro30323=)
c.90966A>G (p.Pro30322=)
c.88008A>G (p.Pro29336=)
c.69624A>G (p.Pro23208=)
c.91119A>G (p.Pro30373=)
c.91116A>G (p.Pro30372=)
c.90549A>G (p.Pro30183=)
c.87891A>G (p.Pro29297=)
c.87810A>G (p.Pro29270=)
c.69573A>G (p.Pro23191=)
c.59427A>G (p.Pro19809=)
2g.178543295T>GCA430241325TTN,TTN-AS1c.88974A>C (p.Pro29658=)
c.70059A>C (p.Pro23353=)
c.69858A>C (p.Pro23286=)
c.69483A>C (p.Pro23161=)
c.96678A>C (p.Pro32226=)
c.91755A>C (p.Pro30585=)
n.446+19659T>G
n.2043+934T>G
c.95775A>C (p.Pro31925=)
c.69669A>C (p.Pro23223=)
c.69528A>C (p.Pro23176=)
c.95571A>C (p.Pro31857=)
c.90969A>C (p.Pro30323=)
c.90966A>C (p.Pro30322=)
c.88008A>C (p.Pro29336=)
c.69624A>C (p.Pro23208=)
c.91119A>C (p.Pro30373=)
c.91116A>C (p.Pro30372=)
c.90549A>C (p.Pro30183=)
c.87891A>C (p.Pro29297=)
c.87810A>C (p.Pro29270=)
c.69573A>C (p.Pro23191=)
c.59427A>C (p.Pro19809=)
2g.178543296G>ACA349446030TTN,TTN-AS1c.88973C>T (p.Pro29658Leu)
c.70058C>T (p.Pro23353Leu)
c.69857C>T (p.Pro23286Leu)
c.69482C>T (p.Pro23161Leu)
c.96677C>T (p.Pro32226Leu)
c.91754C>T (p.Pro30585Leu)
n.446+19660G>A
n.2043+935G>A
c.95774C>T (p.Pro31925Leu)
c.69668C>T (p.Pro23223Leu)
c.69527C>T (p.Pro23176Leu)
c.95570C>T (p.Pro31857Leu)
c.90968C>T (p.Pro30323Leu)
c.90965C>T (p.Pro30322Leu)
c.88007C>T (p.Pro29336Leu)
c.69623C>T (p.Pro23208Leu)
c.91118C>T (p.Pro30373Leu)
c.91115C>T (p.Pro30372Leu)
c.90548C>T (p.Pro30183Leu)
c.87890C>T (p.Pro29297Leu)
c.87809C>T (p.Pro29270Leu)
c.69572C>T (p.Pro23191Leu)
c.59426C>T (p.Pro19809Leu)
2g.178543296G>CCA349446034TTN,TTN-AS1c.88973C>G (p.Pro29658Arg)
c.70058C>G (p.Pro23353Arg)
c.69857C>G (p.Pro23286Arg)
c.69482C>G (p.Pro23161Arg)
c.96677C>G (p.Pro32226Arg)
c.91754C>G (p.Pro30585Arg)
n.446+19660G>C
n.2043+935G>C
c.95774C>G (p.Pro31925Arg)
c.69668C>G (p.Pro23223Arg)
c.69527C>G (p.Pro23176Arg)
c.95570C>G (p.Pro31857Arg)
c.90968C>G (p.Pro30323Arg)
c.90965C>G (p.Pro30322Arg)
c.88007C>G (p.Pro29336Arg)
c.69623C>G (p.Pro23208Arg)
c.91118C>G (p.Pro30373Arg)
c.91115C>G (p.Pro30372Arg)
c.90548C>G (p.Pro30183Arg)
c.87890C>G (p.Pro29297Arg)
c.87809C>G (p.Pro29270Arg)
c.69572C>G (p.Pro23191Arg)
c.59426C>G (p.Pro19809Arg)
2g.178543296G>TCA349446038TTN,TTN-AS1c.88973C>A (p.Pro29658Gln)
c.70058C>A (p.Pro23353Gln)
c.69857C>A (p.Pro23286Gln)
c.69482C>A (p.Pro23161Gln)
c.96677C>A (p.Pro32226Gln)
c.91754C>A (p.Pro30585Gln)
n.446+19660G>T
n.2043+935G>T
c.95774C>A (p.Pro31925Gln)
c.69668C>A (p.Pro23223Gln)
c.69527C>A (p.Pro23176Gln)
c.95570C>A (p.Pro31857Gln)
c.90968C>A (p.Pro30323Gln)
c.90965C>A (p.Pro30322Gln)
c.88007C>A (p.Pro29336Gln)
c.69623C>A (p.Pro23208Gln)
c.91118C>A (p.Pro30373Gln)
c.91115C>A (p.Pro30372Gln)
c.90548C>A (p.Pro30183Gln)
c.87890C>A (p.Pro29297Gln)
c.87809C>A (p.Pro29270Gln)
c.69572C>A (p.Pro23191Gln)
c.59426C>A (p.Pro19809Gln)
 COSMIC COSMIC COSMIC COSMIC
2g.178543297G>ACA349446043TTN,TTN-AS1c.88972C>T (p.Pro29658Ser)
c.70057C>T (p.Pro23353Ser)
c.69856C>T (p.Pro23286Ser)
c.69481C>T (p.Pro23161Ser)
c.96676C>T (p.Pro32226Ser)
c.91753C>T (p.Pro30585Ser)
n.446+19661G>A
n.2043+936G>A
c.95773C>T (p.Pro31925Ser)
c.69667C>T (p.Pro23223Ser)
c.69526C>T (p.Pro23176Ser)
c.95569C>T (p.Pro31857Ser)
c.90967C>T (p.Pro30323Ser)
c.90964C>T (p.Pro30322Ser)
c.88006C>T (p.Pro29336Ser)
c.69622C>T (p.Pro23208Ser)
c.91117C>T (p.Pro30373Ser)
c.91114C>T (p.Pro30372Ser)
c.90547C>T (p.Pro30183Ser)
c.87889C>T (p.Pro29297Ser)
c.87808C>T (p.Pro29270Ser)
c.69571C>T (p.Pro23191Ser)
c.59425C>T (p.Pro19809Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178543297G>CCA349446046TTN,TTN-AS1c.88972C>G (p.Pro29658Ala)
c.70057C>G (p.Pro23353Ala)
c.69856C>G (p.Pro23286Ala)
c.69481C>G (p.Pro23161Ala)
c.96676C>G (p.Pro32226Ala)
c.91753C>G (p.Pro30585Ala)
n.446+19661G>C
n.2043+936G>C
c.95773C>G (p.Pro31925Ala)
c.69667C>G (p.Pro23223Ala)
c.69526C>G (p.Pro23176Ala)
c.95569C>G (p.Pro31857Ala)
c.90967C>G (p.Pro30323Ala)
c.90964C>G (p.Pro30322Ala)
c.88006C>G (p.Pro29336Ala)
c.69622C>G (p.Pro23208Ala)
c.91117C>G (p.Pro30373Ala)
c.91114C>G (p.Pro30372Ala)
c.90547C>G (p.Pro30183Ala)
c.87889C>G (p.Pro29297Ala)
c.87808C>G (p.Pro29270Ala)
c.69571C>G (p.Pro23191Ala)
c.59425C>G (p.Pro19809Ala)
2g.178543297G=CA1310520629TTN,TTN-AS1c.88972C= (p.Pro29658=)
c.70057C= (p.Pro23353=)
c.69856C= (p.Pro23286=)
c.69481C= (p.Pro23161=)
c.96676C= (p.Pro32226=)
c.91753C= (p.Pro30585=)
n.446+19661G=
n.2043+936G=
c.95773C= (p.Pro31925=)
c.69667C= (p.Pro23223=)
c.69526C= (p.Pro23176=)
c.95569C= (p.Pro31857=)
c.90967C= (p.Pro30323=)
c.90964C= (p.Pro30322=)
c.88006C= (p.Pro29336=)
c.69622C= (p.Pro23208=)
c.91117C= (p.Pro30373=)
c.91114C= (p.Pro30372=)
c.90547C= (p.Pro30183=)
c.87889C= (p.Pro29297=)
c.87808C= (p.Pro29270=)
c.69571C= (p.Pro23191=)
c.59425C= (p.Pro19809=)
2g.178543297G>TCA16610323TTN,TTN-AS1c.88972C>A (p.Pro29658Thr)
c.70057C>A (p.Pro23353Thr)
c.69856C>A (p.Pro23286Thr)
c.69481C>A (p.Pro23161Thr)
c.96676C>A (p.Pro32226Thr)
c.91753C>A (p.Pro30585Thr)
n.446+19661G>T
n.2043+936G>T
c.95773C>A (p.Pro31925Thr)
c.69667C>A (p.Pro23223Thr)
c.69526C>A (p.Pro23176Thr)
c.95569C>A (p.Pro31857Thr)
c.90967C>A (p.Pro30323Thr)
c.90964C>A (p.Pro30322Thr)
c.88006C>A (p.Pro29336Thr)
c.69622C>A (p.Pro23208Thr)
c.91117C>A (p.Pro30373Thr)
c.91114C>A (p.Pro30372Thr)
c.90547C>A (p.Pro30183Thr)
c.87889C>A (p.Pro29297Thr)
c.87808C>A (p.Pro29270Thr)
c.69571C>A (p.Pro23191Thr)
c.59425C>A (p.Pro19809Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178543298T>ACA349446054TTN,TTN-AS1c.88971A>T (p.Lys29657Asn)
c.70056A>T (p.Lys23352Asn)
c.69855A>T (p.Lys23285Asn)
c.69480A>T (p.Lys23160Asn)
c.96675A>T (p.Lys32225Asn)
c.91752A>T (p.Lys30584Asn)
n.446+19662T>A
n.2043+937T>A
c.95772A>T (p.Lys31924Asn)
c.69666A>T (p.Lys23222Asn)
c.69525A>T (p.Lys23175Asn)
c.95568A>T (p.Lys31856Asn)
c.90966A>T (p.Lys30322Asn)
c.90963A>T (p.Lys30321Asn)
c.88005A>T (p.Lys29335Asn)
c.69621A>T (p.Lys23207Asn)
c.91116A>T (p.Lys30372Asn)
c.91113A>T (p.Lys30371Asn)
c.90546A>T (p.Lys30182Asn)
c.87888A>T (p.Lys29296Asn)
c.87807A>T (p.Lys29269Asn)
c.69570A>T (p.Lys23190Asn)
c.59424A>T (p.Lys19808Asn)
2g.178543298T>CCA430241333TTN,TTN-AS1c.88971A>G (p.Lys29657=)
c.70056A>G (p.Lys23352=)
c.69855A>G (p.Lys23285=)
c.69480A>G (p.Lys23160=)
c.96675A>G (p.Lys32225=)
c.91752A>G (p.Lys30584=)
n.446+19662T>C
n.2043+937T>C
c.95772A>G (p.Lys31924=)
c.69666A>G (p.Lys23222=)
c.69525A>G (p.Lys23175=)
c.95568A>G (p.Lys31856=)
c.90966A>G (p.Lys30322=)
c.90963A>G (p.Lys30321=)
c.88005A>G (p.Lys29335=)
c.69621A>G (p.Lys23207=)
c.91116A>G (p.Lys30372=)
c.91113A>G (p.Lys30371=)
c.90546A>G (p.Lys30182=)
c.87888A>G (p.Lys29296=)
c.87807A>G (p.Lys29269=)
c.69570A>G (p.Lys23190=)
c.59424A>G (p.Lys19808=)
 gnomAD v4
2g.178543298T>GCA349446055TTN,TTN-AS1c.88971A>C (p.Lys29657Asn)
c.70056A>C (p.Lys23352Asn)
c.69855A>C (p.Lys23285Asn)
c.69480A>C (p.Lys23160Asn)
c.96675A>C (p.Lys32225Asn)
c.91752A>C (p.Lys30584Asn)
n.446+19662T>G
n.2043+937T>G
c.95772A>C (p.Lys31924Asn)
c.69666A>C (p.Lys23222Asn)
c.69525A>C (p.Lys23175Asn)
c.95568A>C (p.Lys31856Asn)
c.90966A>C (p.Lys30322Asn)
c.90963A>C (p.Lys30321Asn)
c.88005A>C (p.Lys29335Asn)
c.69621A>C (p.Lys23207Asn)
c.91116A>C (p.Lys30372Asn)
c.91113A>C (p.Lys30371Asn)
c.90546A>C (p.Lys30182Asn)
c.87888A>C (p.Lys29296Asn)
c.87807A>C (p.Lys29269Asn)
c.69570A>C (p.Lys23190Asn)
c.59424A>C (p.Lys19808Asn)
2g.178543299T>ACA349446056TTN,TTN-AS1c.88970A>T (p.Lys29657Ile)
c.70055A>T (p.Lys23352Ile)
c.69854A>T (p.Lys23285Ile)
c.69479A>T (p.Lys23160Ile)
c.96674A>T (p.Lys32225Ile)
c.91751A>T (p.Lys30584Ile)
n.446+19663T>A
n.2043+938T>A
c.95771A>T (p.Lys31924Ile)
c.69665A>T (p.Lys23222Ile)
c.69524A>T (p.Lys23175Ile)
c.95567A>T (p.Lys31856Ile)
c.90965A>T (p.Lys30322Ile)
c.90962A>T (p.Lys30321Ile)
c.88004A>T (p.Lys29335Ile)
c.69620A>T (p.Lys23207Ile)
c.91115A>T (p.Lys30372Ile)
c.91112A>T (p.Lys30371Ile)
c.90545A>T (p.Lys30182Ile)
c.87887A>T (p.Lys29296Ile)
c.87806A>T (p.Lys29269Ile)
c.69569A>T (p.Lys23190Ile)
c.59423A>T (p.Lys19808Ile)
2g.178543299T>CCA349446058TTN,TTN-AS1c.88970A>G (p.Lys29657Arg)
c.70055A>G (p.Lys23352Arg)
c.69854A>G (p.Lys23285Arg)
c.69479A>G (p.Lys23160Arg)
c.96674A>G (p.Lys32225Arg)
c.91751A>G (p.Lys30584Arg)
n.446+19663T>C
n.2043+938T>C
c.95771A>G (p.Lys31924Arg)
c.69665A>G (p.Lys23222Arg)
c.69524A>G (p.Lys23175Arg)
c.95567A>G (p.Lys31856Arg)
c.90965A>G (p.Lys30322Arg)
c.90962A>G (p.Lys30321Arg)
c.88004A>G (p.Lys29335Arg)
c.69620A>G (p.Lys23207Arg)
c.91115A>G (p.Lys30372Arg)
c.91112A>G (p.Lys30371Arg)
c.90545A>G (p.Lys30182Arg)
c.87887A>G (p.Lys29296Arg)
c.87806A>G (p.Lys29269Arg)
c.69569A>G (p.Lys23190Arg)
c.59423A>G (p.Lys19808Arg)
2g.178543299T>GCA349446064TTN,TTN-AS1c.88970A>C (p.Lys29657Thr)
c.70055A>C (p.Lys23352Thr)
c.69854A>C (p.Lys23285Thr)
c.69479A>C (p.Lys23160Thr)
c.96674A>C (p.Lys32225Thr)
c.91751A>C (p.Lys30584Thr)
n.446+19663T>G
n.2043+938T>G
c.95771A>C (p.Lys31924Thr)
c.69665A>C (p.Lys23222Thr)
c.69524A>C (p.Lys23175Thr)
c.95567A>C (p.Lys31856Thr)
c.90965A>C (p.Lys30322Thr)
c.90962A>C (p.Lys30321Thr)
c.88004A>C (p.Lys29335Thr)
c.69620A>C (p.Lys23207Thr)
c.91115A>C (p.Lys30372Thr)
c.91112A>C (p.Lys30371Thr)
c.90545A>C (p.Lys30182Thr)
c.87887A>C (p.Lys29296Thr)
c.87806A>C (p.Lys29269Thr)
c.69569A>C (p.Lys23190Thr)
c.59423A>C (p.Lys19808Thr)
2g.178543300T>ACA349446067TTN,TTN-AS1c.88969A>T (p.Lys29657Ter)
c.70054A>T (p.Lys23352Ter)
c.69853A>T (p.Lys23285Ter)
c.69478A>T (p.Lys23160Ter)
c.96673A>T (p.Lys32225Ter)
c.91750A>T (p.Lys30584Ter)
n.446+19664T>A
n.2043+939T>A
c.95770A>T (p.Lys31924Ter)
c.69664A>T (p.Lys23222Ter)
c.69523A>T (p.Lys23175Ter)
c.95566A>T (p.Lys31856Ter)
c.90964A>T (p.Lys30322Ter)
c.90961A>T (p.Lys30321Ter)
c.88003A>T (p.Lys29335Ter)
c.69619A>T (p.Lys23207Ter)
c.91114A>T (p.Lys30372Ter)
c.91111A>T (p.Lys30371Ter)
c.90544A>T (p.Lys30182Ter)
c.87886A>T (p.Lys29296Ter)
c.87805A>T (p.Lys29269Ter)
c.69568A>T (p.Lys23190Ter)
c.59422A>T (p.Lys19808Ter)
2g.178543300T>CCA1986726TTN,TTN-AS1c.88969A>G (p.Lys29657Glu)
c.70054A>G (p.Lys23352Glu)
c.69853A>G (p.Lys23285Glu)
c.69478A>G (p.Lys23160Glu)
c.96673A>G (p.Lys32225Glu)
c.91750A>G (p.Lys30584Glu)
n.446+19664T>C
n.2043+939T>C
c.95770A>G (p.Lys31924Glu)
c.69664A>G (p.Lys23222Glu)
c.69523A>G (p.Lys23175Glu)
c.95566A>G (p.Lys31856Glu)
c.90964A>G (p.Lys30322Glu)
c.90961A>G (p.Lys30321Glu)
c.88003A>G (p.Lys29335Glu)
c.69619A>G (p.Lys23207Glu)
c.91114A>G (p.Lys30372Glu)
c.91111A>G (p.Lys30371Glu)
c.90544A>G (p.Lys30182Glu)
c.87886A>G (p.Lys29296Glu)
c.87805A>G (p.Lys29269Glu)
c.69568A>G (p.Lys23190Glu)
c.59422A>G (p.Lys19808Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543300T>GCA349446066TTN,TTN-AS1c.88969A>C (p.Lys29657Gln)
c.70054A>C (p.Lys23352Gln)
c.69853A>C (p.Lys23285Gln)
c.69478A>C (p.Lys23160Gln)
c.96673A>C (p.Lys32225Gln)
c.91750A>C (p.Lys30584Gln)
n.446+19664T>G
n.2043+939T>G
c.95770A>C (p.Lys31924Gln)
c.69664A>C (p.Lys23222Gln)
c.69523A>C (p.Lys23175Gln)
c.95566A>C (p.Lys31856Gln)
c.90964A>C (p.Lys30322Gln)
c.90961A>C (p.Lys30321Gln)
c.88003A>C (p.Lys29335Gln)
c.69619A>C (p.Lys23207Gln)
c.91114A>C (p.Lys30372Gln)
c.91111A>C (p.Lys30371Gln)
c.90544A>C (p.Lys30182Gln)
c.87886A>C (p.Lys29296Gln)
c.87805A>C (p.Lys29269Gln)
c.69568A>C (p.Lys23190Gln)
c.59422A>C (p.Lys19808Gln)
2g.178543300T=CA1310520630TTN,TTN-AS1c.88969A= (p.Lys29657=)
c.70054A= (p.Lys23352=)
c.69853A= (p.Lys23285=)
c.69478A= (p.Lys23160=)
c.96673A= (p.Lys32225=)
c.91750A= (p.Lys30584=)
n.446+19664T=
n.2043+939T=
c.95770A= (p.Lys31924=)
c.69664A= (p.Lys23222=)
c.69523A= (p.Lys23175=)
c.95566A= (p.Lys31856=)
c.90964A= (p.Lys30322=)
c.90961A= (p.Lys30321=)
c.88003A= (p.Lys29335=)
c.69619A= (p.Lys23207=)
c.91114A= (p.Lys30372=)
c.91111A= (p.Lys30371=)
c.90544A= (p.Lys30182=)
c.87886A= (p.Lys29296=)
c.87805A= (p.Lys29269=)
c.69568A= (p.Lys23190=)
c.59422A= (p.Lys19808=)
2g.178543301T>ACA349446072TTN,TTN-AS1c.88968A>T (p.Glu29656Asp)
c.70053A>T (p.Glu23351Asp)
c.69852A>T (p.Glu23284Asp)
c.69477A>T (p.Glu23159Asp)
c.96672A>T (p.Glu32224Asp)
c.91749A>T (p.Glu30583Asp)
n.446+19665T>A
n.2043+940T>A
c.95769A>T (p.Glu31923Asp)
c.69663A>T (p.Glu23221Asp)
c.69522A>T (p.Glu23174Asp)
c.95565A>T (p.Glu31855Asp)
c.90963A>T (p.Glu30321Asp)
c.90960A>T (p.Glu30320Asp)
c.88002A>T (p.Glu29334Asp)
c.69618A>T (p.Glu23206Asp)
c.91113A>T (p.Glu30371Asp)
c.91110A>T (p.Glu30370Asp)
c.90543A>T (p.Glu30181Asp)
c.87885A>T (p.Glu29295Asp)
c.87804A>T (p.Glu29268Asp)
c.69567A>T (p.Glu23189Asp)
c.59421A>T (p.Glu19807Asp)
2g.178543301T>CCA430241341TTN,TTN-AS1c.88968A>G (p.Glu29656=)
c.70053A>G (p.Glu23351=)
c.69852A>G (p.Glu23284=)
c.69477A>G (p.Glu23159=)
c.96672A>G (p.Glu32224=)
c.91749A>G (p.Glu30583=)
n.446+19665T>C
n.2043+940T>C
c.95769A>G (p.Glu31923=)
c.69663A>G (p.Glu23221=)
c.69522A>G (p.Glu23174=)
c.95565A>G (p.Glu31855=)
c.90963A>G (p.Glu30321=)
c.90960A>G (p.Glu30320=)
c.88002A>G (p.Glu29334=)
c.69618A>G (p.Glu23206=)
c.91113A>G (p.Glu30371=)
c.91110A>G (p.Glu30370=)
c.90543A>G (p.Glu30181=)
c.87885A>G (p.Glu29295=)
c.87804A>G (p.Glu29268=)
c.69567A>G (p.Glu23189=)
c.59421A>G (p.Glu19807=)
2g.178543301T>GCA349446079TTN,TTN-AS1c.88968A>C (p.Glu29656Asp)
c.70053A>C (p.Glu23351Asp)
c.69852A>C (p.Glu23284Asp)
c.69477A>C (p.Glu23159Asp)
c.96672A>C (p.Glu32224Asp)
c.91749A>C (p.Glu30583Asp)
n.446+19665T>G
n.2043+940T>G
c.95769A>C (p.Glu31923Asp)
c.69663A>C (p.Glu23221Asp)
c.69522A>C (p.Glu23174Asp)
c.95565A>C (p.Glu31855Asp)
c.90963A>C (p.Glu30321Asp)
c.90960A>C (p.Glu30320Asp)
c.88002A>C (p.Glu29334Asp)
c.69618A>C (p.Glu23206Asp)
c.91113A>C (p.Glu30371Asp)
c.91110A>C (p.Glu30370Asp)
c.90543A>C (p.Glu30181Asp)
c.87885A>C (p.Glu29295Asp)
c.87804A>C (p.Glu29268Asp)
c.69567A>C (p.Glu23189Asp)
c.59421A>C (p.Glu19807Asp)
2g.178543302T>ACA349446082TTN,TTN-AS1c.88967A>T (p.Glu29656Val)
c.70052A>T (p.Glu23351Val)
c.69851A>T (p.Glu23284Val)
c.69476A>T (p.Glu23159Val)
c.96671A>T (p.Glu32224Val)
c.91748A>T (p.Glu30583Val)
n.446+19666T>A
n.2043+941T>A
c.95768A>T (p.Glu31923Val)
c.69662A>T (p.Glu23221Val)
c.69521A>T (p.Glu23174Val)
c.95564A>T (p.Glu31855Val)
c.90962A>T (p.Glu30321Val)
c.90959A>T (p.Glu30320Val)
c.88001A>T (p.Glu29334Val)
c.69617A>T (p.Glu23206Val)
c.91112A>T (p.Glu30371Val)
c.91109A>T (p.Glu30370Val)
c.90542A>T (p.Glu30181Val)
c.87884A>T (p.Glu29295Val)
c.87803A>T (p.Glu29268Val)
c.69566A>T (p.Glu23189Val)
c.59420A>T (p.Glu19807Val)
2g.178543302T>CCA349446085TTN,TTN-AS1c.88967A>G (p.Glu29656Gly)
c.70052A>G (p.Glu23351Gly)
c.69851A>G (p.Glu23284Gly)
c.69476A>G (p.Glu23159Gly)
c.96671A>G (p.Glu32224Gly)
c.91748A>G (p.Glu30583Gly)
n.446+19666T>C
n.2043+941T>C
c.95768A>G (p.Glu31923Gly)
c.69662A>G (p.Glu23221Gly)
c.69521A>G (p.Glu23174Gly)
c.95564A>G (p.Glu31855Gly)
c.90962A>G (p.Glu30321Gly)
c.90959A>G (p.Glu30320Gly)
c.88001A>G (p.Glu29334Gly)
c.69617A>G (p.Glu23206Gly)
c.91112A>G (p.Glu30371Gly)
c.91109A>G (p.Glu30370Gly)
c.90542A>G (p.Glu30181Gly)
c.87884A>G (p.Glu29295Gly)
c.87803A>G (p.Glu29268Gly)
c.69566A>G (p.Glu23189Gly)
c.59420A>G (p.Glu19807Gly)
2g.178543302T>GCA349446088TTN,TTN-AS1c.88967A>C (p.Glu29656Ala)
c.70052A>C (p.Glu23351Ala)
c.69851A>C (p.Glu23284Ala)
c.69476A>C (p.Glu23159Ala)
c.96671A>C (p.Glu32224Ala)
c.91748A>C (p.Glu30583Ala)
n.446+19666T>G
n.2043+941T>G
c.95768A>C (p.Glu31923Ala)
c.69662A>C (p.Glu23221Ala)
c.69521A>C (p.Glu23174Ala)
c.95564A>C (p.Glu31855Ala)
c.90962A>C (p.Glu30321Ala)
c.90959A>C (p.Glu30320Ala)
c.88001A>C (p.Glu29334Ala)
c.69617A>C (p.Glu23206Ala)
c.91112A>C (p.Glu30371Ala)
c.91109A>C (p.Glu30370Ala)
c.90542A>C (p.Glu30181Ala)
c.87884A>C (p.Glu29295Ala)
c.87803A>C (p.Glu29268Ala)
c.69566A>C (p.Glu23189Ala)
c.59420A>C (p.Glu19807Ala)
2g.178543303C>ACA349446097TTN,TTN-AS1c.88966G>T (p.Glu29656Ter)
c.70051G>T (p.Glu23351Ter)
c.69850G>T (p.Glu23284Ter)
c.69475G>T (p.Glu23159Ter)
c.96670G>T (p.Glu32224Ter)
c.91747G>T (p.Glu30583Ter)
n.446+19667C>A
n.2043+942C>A
c.95767G>T (p.Glu31923Ter)
c.69661G>T (p.Glu23221Ter)
c.69520G>T (p.Glu23174Ter)
c.95563G>T (p.Glu31855Ter)
c.90961G>T (p.Glu30321Ter)
c.90958G>T (p.Glu30320Ter)
c.88000G>T (p.Glu29334Ter)
c.69616G>T (p.Glu23206Ter)
c.91111G>T (p.Glu30371Ter)
c.91108G>T (p.Glu30370Ter)
c.90541G>T (p.Glu30181Ter)
c.87883G>T (p.Glu29295Ter)
c.87802G>T (p.Glu29268Ter)
c.69565G>T (p.Glu23189Ter)
c.59419G>T (p.Glu19807Ter)
2g.178543303C>GCA349446099TTN,TTN-AS1c.88966G>C (p.Glu29656Gln)
c.70051G>C (p.Glu23351Gln)
c.69850G>C (p.Glu23284Gln)
c.69475G>C (p.Glu23159Gln)
c.96670G>C (p.Glu32224Gln)
c.91747G>C (p.Glu30583Gln)
n.446+19667C>G
n.2043+942C>G
c.95767G>C (p.Glu31923Gln)
c.69661G>C (p.Glu23221Gln)
c.69520G>C (p.Glu23174Gln)
c.95563G>C (p.Glu31855Gln)
c.90961G>C (p.Glu30321Gln)
c.90958G>C (p.Glu30320Gln)
c.88000G>C (p.Glu29334Gln)
c.69616G>C (p.Glu23206Gln)
c.91111G>C (p.Glu30371Gln)
c.91108G>C (p.Glu30370Gln)
c.90541G>C (p.Glu30181Gln)
c.87883G>C (p.Glu29295Gln)
c.87802G>C (p.Glu29268Gln)
c.69565G>C (p.Glu23189Gln)
c.59419G>C (p.Glu19807Gln)
2g.178543303C>TCA349446102TTN,TTN-AS1c.88966G>A (p.Glu29656Lys)
c.70051G>A (p.Glu23351Lys)
c.69850G>A (p.Glu23284Lys)
c.69475G>A (p.Glu23159Lys)
c.96670G>A (p.Glu32224Lys)
c.91747G>A (p.Glu30583Lys)
n.446+19667C>T
n.2043+942C>T
c.95767G>A (p.Glu31923Lys)
c.69661G>A (p.Glu23221Lys)
c.69520G>A (p.Glu23174Lys)
c.95563G>A (p.Glu31855Lys)
c.90961G>A (p.Glu30321Lys)
c.90958G>A (p.Glu30320Lys)
c.88000G>A (p.Glu29334Lys)
c.69616G>A (p.Glu23206Lys)
c.91111G>A (p.Glu30371Lys)
c.91108G>A (p.Glu30370Lys)
c.90541G>A (p.Glu30181Lys)
c.87883G>A (p.Glu29295Lys)
c.87802G>A (p.Glu29268Lys)
c.69565G>A (p.Glu23189Lys)
c.59419G>A (p.Glu19807Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178543304C>ACA349446106TTN,TTN-AS1c.88965G>T (p.Trp29655Cys)
c.70050G>T (p.Trp23350Cys)
c.69849G>T (p.Trp23283Cys)
c.69474G>T (p.Trp23158Cys)
c.96669G>T (p.Trp32223Cys)
c.91746G>T (p.Trp30582Cys)
n.446+19668C>A
n.2043+943C>A
c.95766G>T (p.Trp31922Cys)
c.69660G>T (p.Trp23220Cys)
c.69519G>T (p.Trp23173Cys)
c.95562G>T (p.Trp31854Cys)
c.90960G>T (p.Trp30320Cys)
c.90957G>T (p.Trp30319Cys)
c.87999G>T (p.Trp29333Cys)
c.69615G>T (p.Trp23205Cys)
c.91110G>T (p.Trp30370Cys)
c.91107G>T (p.Trp30369Cys)
c.90540G>T (p.Trp30180Cys)
c.87882G>T (p.Trp29294Cys)
c.87801G>T (p.Trp29267Cys)
c.69564G>T (p.Trp23188Cys)
c.59418G>T (p.Trp19806Cys)
2g.178543304C>GCA349446107TTN,TTN-AS1c.88965G>C (p.Trp29655Cys)
c.70050G>C (p.Trp23350Cys)
c.69849G>C (p.Trp23283Cys)
c.69474G>C (p.Trp23158Cys)
c.96669G>C (p.Trp32223Cys)
c.91746G>C (p.Trp30582Cys)
n.446+19668C>G
n.2043+943C>G
c.95766G>C (p.Trp31922Cys)
c.69660G>C (p.Trp23220Cys)
c.69519G>C (p.Trp23173Cys)
c.95562G>C (p.Trp31854Cys)
c.90960G>C (p.Trp30320Cys)
c.90957G>C (p.Trp30319Cys)
c.87999G>C (p.Trp29333Cys)
c.69615G>C (p.Trp23205Cys)
c.91110G>C (p.Trp30370Cys)
c.91107G>C (p.Trp30369Cys)
c.90540G>C (p.Trp30180Cys)
c.87882G>C (p.Trp29294Cys)
c.87801G>C (p.Trp29267Cys)
c.69564G>C (p.Trp23188Cys)
c.59418G>C (p.Trp19806Cys)
 gnomAD v4
2g.178543304C>TCA349446108TTN,TTN-AS1c.88965G>A (p.Trp29655Ter)
c.70050G>A (p.Trp23350Ter)
c.69849G>A (p.Trp23283Ter)
c.69474G>A (p.Trp23158Ter)
c.96669G>A (p.Trp32223Ter)
c.91746G>A (p.Trp30582Ter)
n.446+19668C>T
n.2043+943C>T
c.95766G>A (p.Trp31922Ter)
c.69660G>A (p.Trp23220Ter)
c.69519G>A (p.Trp23173Ter)
c.95562G>A (p.Trp31854Ter)
c.90960G>A (p.Trp30320Ter)
c.90957G>A (p.Trp30319Ter)
c.87999G>A (p.Trp29333Ter)
c.69615G>A (p.Trp23205Ter)
c.91110G>A (p.Trp30370Ter)
c.91107G>A (p.Trp30369Ter)
c.90540G>A (p.Trp30180Ter)
c.87882G>A (p.Trp29294Ter)
c.87801G>A (p.Trp29267Ter)
c.69564G>A (p.Trp23188Ter)
c.59418G>A (p.Trp19806Ter)
 ClinVar dbSNP
2g.178543305C>ACA349446110TTN,TTN-AS1c.88964G>T (p.Trp29655Leu)
c.70049G>T (p.Trp23350Leu)
c.69848G>T (p.Trp23283Leu)
c.69473G>T (p.Trp23158Leu)
c.96668G>T (p.Trp32223Leu)
c.91745G>T (p.Trp30582Leu)
n.446+19669C>A
n.2043+944C>A
c.95765G>T (p.Trp31922Leu)
c.69659G>T (p.Trp23220Leu)
c.69518G>T (p.Trp23173Leu)
c.95561G>T (p.Trp31854Leu)
c.90959G>T (p.Trp30320Leu)
c.90956G>T (p.Trp30319Leu)
c.87998G>T (p.Trp29333Leu)
c.69614G>T (p.Trp23205Leu)
c.91109G>T (p.Trp30370Leu)
c.91106G>T (p.Trp30369Leu)
c.90539G>T (p.Trp30180Leu)
c.87881G>T (p.Trp29294Leu)
c.87800G>T (p.Trp29267Leu)
c.69563G>T (p.Trp23188Leu)
c.59417G>T (p.Trp19806Leu)
2g.178543305C>GCA349446112TTN,TTN-AS1c.88964G>C (p.Trp29655Ser)
c.70049G>C (p.Trp23350Ser)
c.69848G>C (p.Trp23283Ser)
c.69473G>C (p.Trp23158Ser)
c.96668G>C (p.Trp32223Ser)
c.91745G>C (p.Trp30582Ser)
n.446+19669C>G
n.2043+944C>G
c.95765G>C (p.Trp31922Ser)
c.69659G>C (p.Trp23220Ser)
c.69518G>C (p.Trp23173Ser)
c.95561G>C (p.Trp31854Ser)
c.90959G>C (p.Trp30320Ser)
c.90956G>C (p.Trp30319Ser)
c.87998G>C (p.Trp29333Ser)
c.69614G>C (p.Trp23205Ser)
c.91109G>C (p.Trp30370Ser)
c.91106G>C (p.Trp30369Ser)
c.90539G>C (p.Trp30180Ser)
c.87881G>C (p.Trp29294Ser)
c.87800G>C (p.Trp29267Ser)
c.69563G>C (p.Trp23188Ser)
c.59417G>C (p.Trp19806Ser)
2g.178543305C>TCA349446109TTN,TTN-AS1c.88964G>A (p.Trp29655Ter)
c.70049G>A (p.Trp23350Ter)
c.69848G>A (p.Trp23283Ter)
c.69473G>A (p.Trp23158Ter)
c.96668G>A (p.Trp32223Ter)
c.91745G>A (p.Trp30582Ter)
n.446+19669C>T
n.2043+944C>T
c.95765G>A (p.Trp31922Ter)
c.69659G>A (p.Trp23220Ter)
c.69518G>A (p.Trp23173Ter)
c.95561G>A (p.Trp31854Ter)
c.90959G>A (p.Trp30320Ter)
c.90956G>A (p.Trp30319Ter)
c.87998G>A (p.Trp29333Ter)
c.69614G>A (p.Trp23205Ter)
c.91109G>A (p.Trp30370Ter)
c.91106G>A (p.Trp30369Ter)
c.90539G>A (p.Trp30180Ter)
c.87881G>A (p.Trp29294Ter)
c.87800G>A (p.Trp29267Ter)
c.69563G>A (p.Trp23188Ter)
c.59417G>A (p.Trp19806Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543306A>CCA349446115TTN,TTN-AS1c.88963T>G (p.Trp29655Gly)
c.70048T>G (p.Trp23350Gly)
c.69847T>G (p.Trp23283Gly)
c.69472T>G (p.Trp23158Gly)
c.96667T>G (p.Trp32223Gly)
c.91744T>G (p.Trp30582Gly)
n.446+19670A>C
n.2043+945A>C
c.95764T>G (p.Trp31922Gly)
c.69658T>G (p.Trp23220Gly)
c.69517T>G (p.Trp23173Gly)
c.95560T>G (p.Trp31854Gly)
c.90958T>G (p.Trp30320Gly)
c.90955T>G (p.Trp30319Gly)
c.87997T>G (p.Trp29333Gly)
c.69613T>G (p.Trp23205Gly)
c.91108T>G (p.Trp30370Gly)
c.91105T>G (p.Trp30369Gly)
c.90538T>G (p.Trp30180Gly)
c.87880T>G (p.Trp29294Gly)
c.87799T>G (p.Trp29267Gly)
c.69562T>G (p.Trp23188Gly)
c.59416T>G (p.Trp19806Gly)
2g.178543306A>GCA349446118TTN,TTN-AS1c.88963T>C (p.Trp29655Arg)
c.70048T>C (p.Trp23350Arg)
c.69847T>C (p.Trp23283Arg)
c.69472T>C (p.Trp23158Arg)
c.96667T>C (p.Trp32223Arg)
c.91744T>C (p.Trp30582Arg)
n.446+19670A>G
n.2043+945A>G
c.95764T>C (p.Trp31922Arg)
c.69658T>C (p.Trp23220Arg)
c.69517T>C (p.Trp23173Arg)
c.95560T>C (p.Trp31854Arg)
c.90958T>C (p.Trp30320Arg)
c.90955T>C (p.Trp30319Arg)
c.87997T>C (p.Trp29333Arg)
c.69613T>C (p.Trp23205Arg)
c.91108T>C (p.Trp30370Arg)
c.91105T>C (p.Trp30369Arg)
c.90538T>C (p.Trp30180Arg)
c.87880T>C (p.Trp29294Arg)
c.87799T>C (p.Trp29267Arg)
c.69562T>C (p.Trp23188Arg)
c.59416T>C (p.Trp19806Arg)
2g.178543306A>TCA349446120TTN,TTN-AS1c.88963T>A (p.Trp29655Arg)
c.70048T>A (p.Trp23350Arg)
c.69847T>A (p.Trp23283Arg)
c.69472T>A (p.Trp23158Arg)
c.96667T>A (p.Trp32223Arg)
c.91744T>A (p.Trp30582Arg)
n.446+19670A>T
n.2043+945A>T
c.95764T>A (p.Trp31922Arg)
c.69658T>A (p.Trp23220Arg)
c.69517T>A (p.Trp23173Arg)
c.95560T>A (p.Trp31854Arg)
c.90958T>A (p.Trp30320Arg)
c.90955T>A (p.Trp30319Arg)
c.87997T>A (p.Trp29333Arg)
c.69613T>A (p.Trp23205Arg)
c.91108T>A (p.Trp30370Arg)
c.91105T>A (p.Trp30369Arg)
c.90538T>A (p.Trp30180Arg)
c.87880T>A (p.Trp29294Arg)
c.87799T>A (p.Trp29267Arg)
c.69562T>A (p.Trp23188Arg)
c.59416T>A (p.Trp19806Arg)
2g.178543307G>ACA1986727TTN,TTN-AS1c.88962C>T (p.Ala29654=)
c.70047C>T (p.Ala23349=)
c.69846C>T (p.Ala23282=)
c.69471C>T (p.Ala23157=)
c.96666C>T (p.Ala32222=)
c.91743C>T (p.Ala30581=)
n.446+19671G>A
n.2043+946G>A
c.95763C>T (p.Ala31921=)
c.69657C>T (p.Ala23219=)
c.69516C>T (p.Ala23172=)
c.95559C>T (p.Ala31853=)
c.90957C>T (p.Ala30319=)
c.90954C>T (p.Ala30318=)
c.87996C>T (p.Ala29332=)
c.69612C>T (p.Ala23204=)
c.91107C>T (p.Ala30369=)
c.91104C>T (p.Ala30368=)
c.90537C>T (p.Ala30179=)
c.87879C>T (p.Ala29293=)
c.87798C>T (p.Ala29266=)
c.69561C>T (p.Ala23187=)
c.59415C>T (p.Ala19805=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543307G>CCA430241348TTN,TTN-AS1c.88962C>G (p.Ala29654=)
c.70047C>G (p.Ala23349=)
c.69846C>G (p.Ala23282=)
c.69471C>G (p.Ala23157=)
c.96666C>G (p.Ala32222=)
c.91743C>G (p.Ala30581=)
n.446+19671G>C
n.2043+946G>C
c.95763C>G (p.Ala31921=)
c.69657C>G (p.Ala23219=)
c.69516C>G (p.Ala23172=)
c.95559C>G (p.Ala31853=)
c.90957C>G (p.Ala30319=)
c.90954C>G (p.Ala30318=)
c.87996C>G (p.Ala29332=)
c.69612C>G (p.Ala23204=)
c.91107C>G (p.Ala30369=)
c.91104C>G (p.Ala30368=)
c.90537C>G (p.Ala30179=)
c.87879C>G (p.Ala29293=)
c.87798C>G (p.Ala29266=)
c.69561C>G (p.Ala23187=)
c.59415C>G (p.Ala19805=)
2g.178543307G=CA1310520632TTN,TTN-AS1c.88962C= (p.Ala29654=)
c.70047C= (p.Ala23349=)
c.69846C= (p.Ala23282=)
c.69471C= (p.Ala23157=)
c.96666C= (p.Ala32222=)
c.91743C= (p.Ala30581=)
n.446+19671G=
n.2043+946G=
c.95763C= (p.Ala31921=)
c.69657C= (p.Ala23219=)
c.69516C= (p.Ala23172=)
c.95559C= (p.Ala31853=)
c.90957C= (p.Ala30319=)
c.90954C= (p.Ala30318=)
c.87996C= (p.Ala29332=)
c.69612C= (p.Ala23204=)
c.91107C= (p.Ala30369=)
c.91104C= (p.Ala30368=)
c.90537C= (p.Ala30179=)
c.87879C= (p.Ala29293=)
c.87798C= (p.Ala29266=)
c.69561C= (p.Ala23187=)
c.59415C= (p.Ala19805=)
2g.178543307G>TCA430241350TTN,TTN-AS1c.88962C>A (p.Ala29654=)
c.70047C>A (p.Ala23349=)
c.69846C>A (p.Ala23282=)
c.69471C>A (p.Ala23157=)
c.96666C>A (p.Ala32222=)
c.91743C>A (p.Ala30581=)
n.446+19671G>T
n.2043+946G>T
c.95763C>A (p.Ala31921=)
c.69657C>A (p.Ala23219=)
c.69516C>A (p.Ala23172=)
c.95559C>A (p.Ala31853=)
c.90957C>A (p.Ala30319=)
c.90954C>A (p.Ala30318=)
c.87996C>A (p.Ala29332=)
c.69612C>A (p.Ala23204=)
c.91107C>A (p.Ala30369=)
c.91104C>A (p.Ala30368=)
c.90537C>A (p.Ala30179=)
c.87879C>A (p.Ala29293=)
c.87798C>A (p.Ala29266=)
c.69561C>A (p.Ala23187=)
c.59415C>A (p.Ala19805=)
2g.178543308G>ACA349446128TTN,TTN-AS1c.88961C>T (p.Ala29654Val)
c.70046C>T (p.Ala23349Val)
c.69845C>T (p.Ala23282Val)
c.69470C>T (p.Ala23157Val)
c.96665C>T (p.Ala32222Val)
c.91742C>T (p.Ala30581Val)
n.446+19672G>A
n.2043+947G>A
c.95762C>T (p.Ala31921Val)
c.69656C>T (p.Ala23219Val)
c.69515C>T (p.Ala23172Val)
c.95558C>T (p.Ala31853Val)
c.90956C>T (p.Ala30319Val)
c.90953C>T (p.Ala30318Val)
c.87995C>T (p.Ala29332Val)
c.69611C>T (p.Ala23204Val)
c.91106C>T (p.Ala30369Val)
c.91103C>T (p.Ala30368Val)
c.90536C>T (p.Ala30179Val)
c.87878C>T (p.Ala29293Val)
c.87797C>T (p.Ala29266Val)
c.69560C>T (p.Ala23187Val)
c.59414C>T (p.Ala19805Val)
2g.178543308G>CCA349446130TTN,TTN-AS1c.88961C>G (p.Ala29654Gly)
c.70046C>G (p.Ala23349Gly)
c.69845C>G (p.Ala23282Gly)
c.69470C>G (p.Ala23157Gly)
c.96665C>G (p.Ala32222Gly)
c.91742C>G (p.Ala30581Gly)
n.446+19672G>C
n.2043+947G>C
c.95762C>G (p.Ala31921Gly)
c.69656C>G (p.Ala23219Gly)
c.69515C>G (p.Ala23172Gly)
c.95558C>G (p.Ala31853Gly)
c.90956C>G (p.Ala30319Gly)
c.90953C>G (p.Ala30318Gly)
c.87995C>G (p.Ala29332Gly)
c.69611C>G (p.Ala23204Gly)
c.91106C>G (p.Ala30369Gly)
c.91103C>G (p.Ala30368Gly)
c.90536C>G (p.Ala30179Gly)
c.87878C>G (p.Ala29293Gly)
c.87797C>G (p.Ala29266Gly)
c.69560C>G (p.Ala23187Gly)
c.59414C>G (p.Ala19805Gly)
2g.178543308G>TCA349446133TTN,TTN-AS1c.88961C>A (p.Ala29654Asp)
c.70046C>A (p.Ala23349Asp)
c.69845C>A (p.Ala23282Asp)
c.69470C>A (p.Ala23157Asp)
c.96665C>A (p.Ala32222Asp)
c.91742C>A (p.Ala30581Asp)
n.446+19672G>T
n.2043+947G>T
c.95762C>A (p.Ala31921Asp)
c.69656C>A (p.Ala23219Asp)
c.69515C>A (p.Ala23172Asp)
c.95558C>A (p.Ala31853Asp)
c.90956C>A (p.Ala30319Asp)
c.90953C>A (p.Ala30318Asp)
c.87995C>A (p.Ala29332Asp)
c.69611C>A (p.Ala23204Asp)
c.91106C>A (p.Ala30369Asp)
c.91103C>A (p.Ala30368Asp)
c.90536C>A (p.Ala30179Asp)
c.87878C>A (p.Ala29293Asp)
c.87797C>A (p.Ala29266Asp)
c.69560C>A (p.Ala23187Asp)
c.59414C>A (p.Ala19805Asp)
2g.178543309C>ACA349446135TTN,TTN-AS1c.88960G>T (p.Ala29654Ser)
c.70045G>T (p.Ala23349Ser)
c.69844G>T (p.Ala23282Ser)
c.69469G>T (p.Ala23157Ser)
c.96664G>T (p.Ala32222Ser)
c.91741G>T (p.Ala30581Ser)
n.446+19673C>A
n.2043+948C>A
c.95761G>T (p.Ala31921Ser)
c.69655G>T (p.Ala23219Ser)
c.69514G>T (p.Ala23172Ser)
c.95557G>T (p.Ala31853Ser)
c.90955G>T (p.Ala30319Ser)
c.90952G>T (p.Ala30318Ser)
c.87994G>T (p.Ala29332Ser)
c.69610G>T (p.Ala23204Ser)
c.91105G>T (p.Ala30369Ser)
c.91102G>T (p.Ala30368Ser)
c.90535G>T (p.Ala30179Ser)
c.87877G>T (p.Ala29293Ser)
c.87796G>T (p.Ala29266Ser)
c.69559G>T (p.Ala23187Ser)
c.59413G>T (p.Ala19805Ser)
2g.178543309C>GCA349446137TTN,TTN-AS1c.88960G>C (p.Ala29654Pro)
c.70045G>C (p.Ala23349Pro)
c.69844G>C (p.Ala23282Pro)
c.69469G>C (p.Ala23157Pro)
c.96664G>C (p.Ala32222Pro)
c.91741G>C (p.Ala30581Pro)
n.446+19673C>G
n.2043+948C>G
c.95761G>C (p.Ala31921Pro)
c.69655G>C (p.Ala23219Pro)
c.69514G>C (p.Ala23172Pro)
c.95557G>C (p.Ala31853Pro)
c.90955G>C (p.Ala30319Pro)
c.90952G>C (p.Ala30318Pro)
c.87994G>C (p.Ala29332Pro)
c.69610G>C (p.Ala23204Pro)
c.91105G>C (p.Ala30369Pro)
c.91102G>C (p.Ala30368Pro)
c.90535G>C (p.Ala30179Pro)
c.87877G>C (p.Ala29293Pro)
c.87796G>C (p.Ala29266Pro)
c.69559G>C (p.Ala23187Pro)
c.59413G>C (p.Ala19805Pro)
 gnomAD v4
2g.178543309C>TCA349446139TTN,TTN-AS1c.88960G>A (p.Ala29654Thr)
c.70045G>A (p.Ala23349Thr)
c.69844G>A (p.Ala23282Thr)
c.69469G>A (p.Ala23157Thr)
c.96664G>A (p.Ala32222Thr)
c.91741G>A (p.Ala30581Thr)
n.446+19673C>T
n.2043+948C>T
c.95761G>A (p.Ala31921Thr)
c.69655G>A (p.Ala23219Thr)
c.69514G>A (p.Ala23172Thr)
c.95557G>A (p.Ala31853Thr)
c.90955G>A (p.Ala30319Thr)
c.90952G>A (p.Ala30318Thr)
c.87994G>A (p.Ala29332Thr)
c.69610G>A (p.Ala23204Thr)
c.91105G>A (p.Ala30369Thr)
c.91102G>A (p.Ala30368Thr)
c.90535G>A (p.Ala30179Thr)
c.87877G>A (p.Ala29293Thr)
c.87796G>A (p.Ala29266Thr)
c.69559G>A (p.Ala23187Thr)
c.59413G>A (p.Ala19805Thr)
 gnomAD v4
2g.178543310A>CCA430241354TTN,TTN-AS1c.88959T>G (p.Leu29653=)
c.70044T>G (p.Leu23348=)
c.69843T>G (p.Leu23281=)
c.69468T>G (p.Leu23156=)
c.96663T>G (p.Leu32221=)
c.91740T>G (p.Leu30580=)
n.446+19674A>C
n.2043+949A>C
c.95760T>G (p.Leu31920=)
c.69654T>G (p.Leu23218=)
c.69513T>G (p.Leu23171=)
c.95556T>G (p.Leu31852=)
c.90954T>G (p.Leu30318=)
c.90951T>G (p.Leu30317=)
c.87993T>G (p.Leu29331=)
c.69609T>G (p.Leu23203=)
c.91104T>G (p.Leu30368=)
c.91101T>G (p.Leu30367=)
c.90534T>G (p.Leu30178=)
c.87876T>G (p.Leu29292=)
c.87795T>G (p.Leu29265=)
c.69558T>G (p.Leu23186=)
c.59412T>G (p.Leu19804=)
2g.178543310A>GCA430241358TTN,TTN-AS1c.88959T>C (p.Leu29653=)
c.70044T>C (p.Leu23348=)
c.69843T>C (p.Leu23281=)
c.69468T>C (p.Leu23156=)
c.96663T>C (p.Leu32221=)
c.91740T>C (p.Leu30580=)
n.446+19674A>G
n.2043+949A>G
c.95760T>C (p.Leu31920=)
c.69654T>C (p.Leu23218=)
c.69513T>C (p.Leu23171=)
c.95556T>C (p.Leu31852=)
c.90954T>C (p.Leu30318=)
c.90951T>C (p.Leu30317=)
c.87993T>C (p.Leu29331=)
c.69609T>C (p.Leu23203=)
c.91104T>C (p.Leu30368=)
c.91101T>C (p.Leu30367=)
c.90534T>C (p.Leu30178=)
c.87876T>C (p.Leu29292=)
c.87795T>C (p.Leu29265=)
c.69558T>C (p.Leu23186=)
c.59412T>C (p.Leu19804=)
 gnomAD v4
2g.178543310A>TCA430241356TTN,TTN-AS1c.88959T>A (p.Leu29653=)
c.70044T>A (p.Leu23348=)
c.69843T>A (p.Leu23281=)
c.69468T>A (p.Leu23156=)
c.96663T>A (p.Leu32221=)
c.91740T>A (p.Leu30580=)
n.446+19674A>T
n.2043+949A>T
c.95760T>A (p.Leu31920=)
c.69654T>A (p.Leu23218=)
c.69513T>A (p.Leu23171=)
c.95556T>A (p.Leu31852=)
c.90954T>A (p.Leu30318=)
c.90951T>A (p.Leu30317=)
c.87993T>A (p.Leu29331=)
c.69609T>A (p.Leu23203=)
c.91104T>A (p.Leu30368=)
c.91101T>A (p.Leu30367=)
c.90534T>A (p.Leu30178=)
c.87876T>A (p.Leu29292=)
c.87795T>A (p.Leu29265=)
c.69558T>A (p.Leu23186=)
c.59412T>A (p.Leu19804=)
2g.178543311A>CCA349446141TTN,TTN-AS1c.88958T>G (p.Leu29653Arg)
c.70043T>G (p.Leu23348Arg)
c.69842T>G (p.Leu23281Arg)
c.69467T>G (p.Leu23156Arg)
c.96662T>G (p.Leu32221Arg)
c.91739T>G (p.Leu30580Arg)
n.446+19675A>C
n.2043+950A>C
c.95759T>G (p.Leu31920Arg)
c.69653T>G (p.Leu23218Arg)
c.69512T>G (p.Leu23171Arg)
c.95555T>G (p.Leu31852Arg)
c.90953T>G (p.Leu30318Arg)
c.90950T>G (p.Leu30317Arg)
c.87992T>G (p.Leu29331Arg)
c.69608T>G (p.Leu23203Arg)
c.91103T>G (p.Leu30368Arg)
c.91100T>G (p.Leu30367Arg)
c.90533T>G (p.Leu30178Arg)
c.87875T>G (p.Leu29292Arg)
c.87794T>G (p.Leu29265Arg)
c.69557T>G (p.Leu23186Arg)
c.59411T>G (p.Leu19804Arg)
2g.178543311A>GCA349446142TTN,TTN-AS1c.88958T>C (p.Leu29653Pro)
c.70043T>C (p.Leu23348Pro)
c.69842T>C (p.Leu23281Pro)
c.69467T>C (p.Leu23156Pro)
c.96662T>C (p.Leu32221Pro)
c.91739T>C (p.Leu30580Pro)
n.446+19675A>G
n.2043+950A>G
c.95759T>C (p.Leu31920Pro)
c.69653T>C (p.Leu23218Pro)
c.69512T>C (p.Leu23171Pro)
c.95555T>C (p.Leu31852Pro)
c.90953T>C (p.Leu30318Pro)
c.90950T>C (p.Leu30317Pro)
c.87992T>C (p.Leu29331Pro)
c.69608T>C (p.Leu23203Pro)
c.91103T>C (p.Leu30368Pro)
c.91100T>C (p.Leu30367Pro)
c.90533T>C (p.Leu30178Pro)
c.87875T>C (p.Leu29292Pro)
c.87794T>C (p.Leu29265Pro)
c.69557T>C (p.Leu23186Pro)
c.59411T>C (p.Leu19804Pro)
2g.178543311A>TCA349446144TTN,TTN-AS1c.88958T>A (p.Leu29653His)
c.70043T>A (p.Leu23348His)
c.69842T>A (p.Leu23281His)
c.69467T>A (p.Leu23156His)
c.96662T>A (p.Leu32221His)
c.91739T>A (p.Leu30580His)
n.446+19675A>T
n.2043+950A>T
c.95759T>A (p.Leu31920His)
c.69653T>A (p.Leu23218His)
c.69512T>A (p.Leu23171His)
c.95555T>A (p.Leu31852His)
c.90953T>A (p.Leu30318His)
c.90950T>A (p.Leu30317His)
c.87992T>A (p.Leu29331His)
c.69608T>A (p.Leu23203His)
c.91103T>A (p.Leu30368His)
c.91100T>A (p.Leu30367His)
c.90533T>A (p.Leu30178His)
c.87875T>A (p.Leu29292His)
c.87794T>A (p.Leu29265His)
c.69557T>A (p.Leu23186His)
c.59411T>A (p.Leu19804His)
2g.178543312G>ACA349446154TTN,TTN-AS1c.88957C>T (p.Leu29653Phe)
c.70042C>T (p.Leu23348Phe)
c.69841C>T (p.Leu23281Phe)
c.69466C>T (p.Leu23156Phe)
c.96661C>T (p.Leu32221Phe)
c.91738C>T (p.Leu30580Phe)
n.446+19676G>A
n.2043+951G>A
c.95758C>T (p.Leu31920Phe)
c.69652C>T (p.Leu23218Phe)
c.69511C>T (p.Leu23171Phe)
c.95554C>T (p.Leu31852Phe)
c.90952C>T (p.Leu30318Phe)
c.90949C>T (p.Leu30317Phe)
c.87991C>T (p.Leu29331Phe)
c.69607C>T (p.Leu23203Phe)
c.91102C>T (p.Leu30368Phe)
c.91099C>T (p.Leu30367Phe)
c.90532C>T (p.Leu30178Phe)
c.87874C>T (p.Leu29292Phe)
c.87793C>T (p.Leu29265Phe)
c.69556C>T (p.Leu23186Phe)
c.59410C>T (p.Leu19804Phe)
 dbSNP
2g.178543312G>CCA349446151TTN,TTN-AS1c.88957C>G (p.Leu29653Val)
c.70042C>G (p.Leu23348Val)
c.69841C>G (p.Leu23281Val)
c.69466C>G (p.Leu23156Val)
c.96661C>G (p.Leu32221Val)
c.91738C>G (p.Leu30580Val)
n.446+19676G>C
n.2043+951G>C
c.95758C>G (p.Leu31920Val)
c.69652C>G (p.Leu23218Val)
c.69511C>G (p.Leu23171Val)
c.95554C>G (p.Leu31852Val)
c.90952C>G (p.Leu30318Val)
c.90949C>G (p.Leu30317Val)
c.87991C>G (p.Leu29331Val)
c.69607C>G (p.Leu23203Val)
c.91102C>G (p.Leu30368Val)
c.91099C>G (p.Leu30367Val)
c.90532C>G (p.Leu30178Val)
c.87874C>G (p.Leu29292Val)
c.87793C>G (p.Leu29265Val)
c.69556C>G (p.Leu23186Val)
c.59410C>G (p.Leu19804Val)
 dbSNP gnomAD v4
2g.178543312G=CA1310520634TTN,TTN-AS1c.88957C= (p.Leu29653=)
c.70042C= (p.Leu23348=)
c.69841C= (p.Leu23281=)
c.69466C= (p.Leu23156=)
c.96661C= (p.Leu32221=)
c.91738C= (p.Leu30580=)
n.446+19676G=
n.2043+951G=
c.95758C= (p.Leu31920=)
c.69652C= (p.Leu23218=)
c.69511C= (p.Leu23171=)
c.95554C= (p.Leu31852=)
c.90952C= (p.Leu30318=)
c.90949C= (p.Leu30317=)
c.87991C= (p.Leu29331=)
c.69607C= (p.Leu23203=)
c.91102C= (p.Leu30368=)
c.91099C= (p.Leu30367=)
c.90532C= (p.Leu30178=)
c.87874C= (p.Leu29292=)
c.87793C= (p.Leu29265=)
c.69556C= (p.Leu23186=)
c.59410C= (p.Leu19804=)
2g.178543312G>TCA349446148TTN,TTN-AS1c.88957C>A (p.Leu29653Ile)
c.70042C>A (p.Leu23348Ile)
c.69841C>A (p.Leu23281Ile)
c.69466C>A (p.Leu23156Ile)
c.96661C>A (p.Leu32221Ile)
c.91738C>A (p.Leu30580Ile)
n.446+19676G>T
n.2043+951G>T
c.95758C>A (p.Leu31920Ile)
c.69652C>A (p.Leu23218Ile)
c.69511C>A (p.Leu23171Ile)
c.95554C>A (p.Leu31852Ile)
c.90952C>A (p.Leu30318Ile)
c.90949C>A (p.Leu30317Ile)
c.87991C>A (p.Leu29331Ile)
c.69607C>A (p.Leu23203Ile)
c.91102C>A (p.Leu30368Ile)
c.91099C>A (p.Leu30367Ile)
c.90532C>A (p.Leu30178Ile)
c.87874C>A (p.Leu29292Ile)
c.87793C>A (p.Leu29265Ile)
c.69556C>A (p.Leu23186Ile)
c.59410C>A (p.Leu19804Ile)
2g.178543313G>ACA430241364TTN,TTN-AS1c.88956C>T (p.Thr29652=)
c.70041C>T (p.Thr23347=)
c.69840C>T (p.Thr23280=)
c.69465C>T (p.Thr23155=)
c.96660C>T (p.Thr32220=)
c.91737C>T (p.Thr30579=)
n.446+19677G>A
n.2043+952G>A
c.95757C>T (p.Thr31919=)
c.69651C>T (p.Thr23217=)
c.69510C>T (p.Thr23170=)
c.95553C>T (p.Thr31851=)
c.90951C>T (p.Thr30317=)
c.90948C>T (p.Thr30316=)
c.87990C>T (p.Thr29330=)
c.69606C>T (p.Thr23202=)
c.91101C>T (p.Thr30367=)
c.91098C>T (p.Thr30366=)
c.90531C>T (p.Thr30177=)
c.87873C>T (p.Thr29291=)
c.87792C>T (p.Thr29264=)
c.69555C>T (p.Thr23185=)
c.59409C>T (p.Thr19803=)
2g.178543313G>CCA430241365TTN,TTN-AS1c.88956C>G (p.Thr29652=)
c.70041C>G (p.Thr23347=)
c.69840C>G (p.Thr23280=)
c.69465C>G (p.Thr23155=)
c.96660C>G (p.Thr32220=)
c.91737C>G (p.Thr30579=)
n.446+19677G>C
n.2043+952G>C
c.95757C>G (p.Thr31919=)
c.69651C>G (p.Thr23217=)
c.69510C>G (p.Thr23170=)
c.95553C>G (p.Thr31851=)
c.90951C>G (p.Thr30317=)
c.90948C>G (p.Thr30316=)
c.87990C>G (p.Thr29330=)
c.69606C>G (p.Thr23202=)
c.91101C>G (p.Thr30367=)
c.91098C>G (p.Thr30366=)
c.90531C>G (p.Thr30177=)
c.87873C>G (p.Thr29291=)
c.87792C>G (p.Thr29264=)
c.69555C>G (p.Thr23185=)
c.59409C>G (p.Thr19803=)
 gnomAD v4
2g.178543313G>TCA430241366TTN,TTN-AS1c.88956C>A (p.Thr29652=)
c.70041C>A (p.Thr23347=)
c.69840C>A (p.Thr23280=)
c.69465C>A (p.Thr23155=)
c.96660C>A (p.Thr32220=)
c.91737C>A (p.Thr30579=)
n.446+19677G>T
n.2043+952G>T
c.95757C>A (p.Thr31919=)
c.69651C>A (p.Thr23217=)
c.69510C>A (p.Thr23170=)
c.95553C>A (p.Thr31851=)
c.90951C>A (p.Thr30317=)
c.90948C>A (p.Thr30316=)
c.87990C>A (p.Thr29330=)
c.69606C>A (p.Thr23202=)
c.91101C>A (p.Thr30367=)
c.91098C>A (p.Thr30366=)
c.90531C>A (p.Thr30177=)
c.87873C>A (p.Thr29291=)
c.87792C>A (p.Thr29264=)
c.69555C>A (p.Thr23185=)
c.59409C>A (p.Thr19803=)
2g.178543314G>ACA185373TTN,TTN-AS1c.88955C>T (p.Thr29652Ile)
c.70040C>T (p.Thr23347Ile)
c.69839C>T (p.Thr23280Ile)
c.69464C>T (p.Thr23155Ile)
c.96659C>T (p.Thr32220Ile)
c.91736C>T (p.Thr30579Ile)
n.446+19678G>A
n.2043+953G>A
c.95756C>T (p.Thr31919Ile)
c.69650C>T (p.Thr23217Ile)
c.69509C>T (p.Thr23170Ile)
c.95552C>T (p.Thr31851Ile)
c.90950C>T (p.Thr30317Ile)
c.90947C>T (p.Thr30316Ile)
c.87989C>T (p.Thr29330Ile)
c.69605C>T (p.Thr23202Ile)
c.91100C>T (p.Thr30367Ile)
c.91097C>T (p.Thr30366Ile)
c.90530C>T (p.Thr30177Ile)
c.87872C>T (p.Thr29291Ile)
c.87791C>T (p.Thr29264Ile)
c.69554C>T (p.Thr23185Ile)
c.59408C>T (p.Thr19803Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178543314G>CCA349446156TTN,TTN-AS1c.88955C>G (p.Thr29652Ser)
c.70040C>G (p.Thr23347Ser)
c.69839C>G (p.Thr23280Ser)
c.69464C>G (p.Thr23155Ser)
c.96659C>G (p.Thr32220Ser)
c.91736C>G (p.Thr30579Ser)
n.446+19678G>C
n.2043+953G>C
c.95756C>G (p.Thr31919Ser)
c.69650C>G (p.Thr23217Ser)
c.69509C>G (p.Thr23170Ser)
c.95552C>G (p.Thr31851Ser)
c.90950C>G (p.Thr30317Ser)
c.90947C>G (p.Thr30316Ser)
c.87989C>G (p.Thr29330Ser)
c.69605C>G (p.Thr23202Ser)
c.91100C>G (p.Thr30367Ser)
c.91097C>G (p.Thr30366Ser)
c.90530C>G (p.Thr30177Ser)
c.87872C>G (p.Thr29291Ser)
c.87791C>G (p.Thr29264Ser)
c.69554C>G (p.Thr23185Ser)
c.59408C>G (p.Thr19803Ser)
2g.178543314G=CA1310520637TTN,TTN-AS1c.88955C= (p.Thr29652=)
c.70040C= (p.Thr23347=)
c.69839C= (p.Thr23280=)
c.69464C= (p.Thr23155=)
c.96659C= (p.Thr32220=)
c.91736C= (p.Thr30579=)
n.446+19678G=
n.2043+953G=
c.95756C= (p.Thr31919=)
c.69650C= (p.Thr23217=)
c.69509C= (p.Thr23170=)
c.95552C= (p.Thr31851=)
c.90950C= (p.Thr30317=)
c.90947C= (p.Thr30316=)
c.87989C= (p.Thr29330=)
c.69605C= (p.Thr23202=)
c.91100C= (p.Thr30367=)
c.91097C= (p.Thr30366=)
c.90530C= (p.Thr30177=)
c.87872C= (p.Thr29291=)
c.87791C= (p.Thr29264=)
c.69554C= (p.Thr23185=)
c.59408C= (p.Thr19803=)
2g.178543314G>TCA349446159TTN,TTN-AS1c.88955C>A (p.Thr29652Asn)
c.70040C>A (p.Thr23347Asn)
c.69839C>A (p.Thr23280Asn)
c.69464C>A (p.Thr23155Asn)
c.96659C>A (p.Thr32220Asn)
c.91736C>A (p.Thr30579Asn)
n.446+19678G>T
n.2043+953G>T
c.95756C>A (p.Thr31919Asn)
c.69650C>A (p.Thr23217Asn)
c.69509C>A (p.Thr23170Asn)
c.95552C>A (p.Thr31851Asn)
c.90950C>A (p.Thr30317Asn)
c.90947C>A (p.Thr30316Asn)
c.87989C>A (p.Thr29330Asn)
c.69605C>A (p.Thr23202Asn)
c.91100C>A (p.Thr30367Asn)
c.91097C>A (p.Thr30366Asn)
c.90530C>A (p.Thr30177Asn)
c.87872C>A (p.Thr29291Asn)
c.87791C>A (p.Thr29264Asn)
c.69554C>A (p.Thr23185Asn)
c.59408C>A (p.Thr19803Asn)
2g.178543315T>ACA349446162TTN,TTN-AS1c.88954A>T (p.Thr29652Ser)
c.70039A>T (p.Thr23347Ser)
c.69838A>T (p.Thr23280Ser)
c.69463A>T (p.Thr23155Ser)
c.96658A>T (p.Thr32220Ser)
c.91735A>T (p.Thr30579Ser)
n.446+19679T>A
n.2043+954T>A
c.95755A>T (p.Thr31919Ser)
c.69649A>T (p.Thr23217Ser)
c.69508A>T (p.Thr23170Ser)
c.95551A>T (p.Thr31851Ser)
c.90949A>T (p.Thr30317Ser)
c.90946A>T (p.Thr30316Ser)
c.87988A>T (p.Thr29330Ser)
c.69604A>T (p.Thr23202Ser)
c.91099A>T (p.Thr30367Ser)
c.91096A>T (p.Thr30366Ser)
c.90529A>T (p.Thr30177Ser)
c.87871A>T (p.Thr29291Ser)
c.87790A>T (p.Thr29264Ser)
c.69553A>T (p.Thr23185Ser)
c.59407A>T (p.Thr19803Ser)
 gnomAD v4
2g.178543315T>CCA349446165TTN,TTN-AS1c.88954A>G (p.Thr29652Ala)
c.70039A>G (p.Thr23347Ala)
c.69838A>G (p.Thr23280Ala)
c.69463A>G (p.Thr23155Ala)
c.96658A>G (p.Thr32220Ala)
c.91735A>G (p.Thr30579Ala)
n.446+19679T>C
n.2043+954T>C
c.95755A>G (p.Thr31919Ala)
c.69649A>G (p.Thr23217Ala)
c.69508A>G (p.Thr23170Ala)
c.95551A>G (p.Thr31851Ala)
c.90949A>G (p.Thr30317Ala)
c.90946A>G (p.Thr30316Ala)
c.87988A>G (p.Thr29330Ala)
c.69604A>G (p.Thr23202Ala)
c.91099A>G (p.Thr30367Ala)
c.91096A>G (p.Thr30366Ala)
c.90529A>G (p.Thr30177Ala)
c.87871A>G (p.Thr29291Ala)
c.87790A>G (p.Thr29264Ala)
c.69553A>G (p.Thr23185Ala)
c.59407A>G (p.Thr19803Ala)
2g.178543315T>GCA349446169TTN,TTN-AS1c.88954A>C (p.Thr29652Pro)
c.70039A>C (p.Thr23347Pro)
c.69838A>C (p.Thr23280Pro)
c.69463A>C (p.Thr23155Pro)
c.96658A>C (p.Thr32220Pro)
c.91735A>C (p.Thr30579Pro)
n.446+19679T>G
n.2043+954T>G
c.95755A>C (p.Thr31919Pro)
c.69649A>C (p.Thr23217Pro)
c.69508A>C (p.Thr23170Pro)
c.95551A>C (p.Thr31851Pro)
c.90949A>C (p.Thr30317Pro)
c.90946A>C (p.Thr30316Pro)
c.87988A>C (p.Thr29330Pro)
c.69604A>C (p.Thr23202Pro)
c.91099A>C (p.Thr30367Pro)
c.91096A>C (p.Thr30366Pro)
c.90529A>C (p.Thr30177Pro)
c.87871A>C (p.Thr29291Pro)
c.87790A>C (p.Thr29264Pro)
c.69553A>C (p.Thr23185Pro)
c.59407A>C (p.Thr19803Pro)
2g.178543316A>CCA430241371TTN,TTN-AS1c.88953T>G (p.Val29651=)
c.70038T>G (p.Val23346=)
c.69837T>G (p.Val23279=)
c.69462T>G (p.Val23154=)
c.96657T>G (p.Val32219=)
c.91734T>G (p.Val30578=)
n.446+19680A>C
n.2043+955A>C
c.95754T>G (p.Val31918=)
c.69648T>G (p.Val23216=)
c.69507T>G (p.Val23169=)
c.95550T>G (p.Val31850=)
c.90948T>G (p.Val30316=)
c.90945T>G (p.Val30315=)
c.87987T>G (p.Val29329=)
c.69603T>G (p.Val23201=)
c.91098T>G (p.Val30366=)
c.91095T>G (p.Val30365=)
c.90528T>G (p.Val30176=)
c.87870T>G (p.Val29290=)
c.87789T>G (p.Val29263=)
c.69552T>G (p.Val23184=)
c.59406T>G (p.Val19802=)
2g.178543316A>GCA430241373TTN,TTN-AS1c.88953T>C (p.Val29651=)
c.70038T>C (p.Val23346=)
c.69837T>C (p.Val23279=)
c.69462T>C (p.Val23154=)
c.96657T>C (p.Val32219=)
c.91734T>C (p.Val30578=)
n.446+19680A>G
n.2043+955A>G
c.95754T>C (p.Val31918=)
c.69648T>C (p.Val23216=)
c.69507T>C (p.Val23169=)
c.95550T>C (p.Val31850=)
c.90948T>C (p.Val30316=)
c.90945T>C (p.Val30315=)
c.87987T>C (p.Val29329=)
c.69603T>C (p.Val23201=)
c.91098T>C (p.Val30366=)
c.91095T>C (p.Val30365=)
c.90528T>C (p.Val30176=)
c.87870T>C (p.Val29290=)
c.87789T>C (p.Val29263=)
c.69552T>C (p.Val23184=)
c.59406T>C (p.Val19802=)
 gnomAD v4
2g.178543316A>TCA430241372TTN,TTN-AS1c.88953T>A (p.Val29651=)
c.70038T>A (p.Val23346=)
c.69837T>A (p.Val23279=)
c.69462T>A (p.Val23154=)
c.96657T>A (p.Val32219=)
c.91734T>A (p.Val30578=)
n.446+19680A>T
n.2043+955A>T
c.95754T>A (p.Val31918=)
c.69648T>A (p.Val23216=)
c.69507T>A (p.Val23169=)
c.95550T>A (p.Val31850=)
c.90948T>A (p.Val30316=)
c.90945T>A (p.Val30315=)
c.87987T>A (p.Val29329=)
c.69603T>A (p.Val23201=)
c.91098T>A (p.Val30366=)
c.91095T>A (p.Val30365=)
c.90528T>A (p.Val30176=)
c.87870T>A (p.Val29290=)
c.87789T>A (p.Val29263=)
c.69552T>A (p.Val23184=)
c.59406T>A (p.Val19802=)
2g.178543317A=CA1310520640TTN,TTN-AS1c.88952T= (p.Val29651=)
c.70037T= (p.Val23346=)
c.69836T= (p.Val23279=)
c.69461T= (p.Val23154=)
c.96656T= (p.Val32219=)
c.91733T= (p.Val30578=)
n.446+19681A=
n.2043+956A=
c.95753T= (p.Val31918=)
c.69647T= (p.Val23216=)
c.69506T= (p.Val23169=)
c.95549T= (p.Val31850=)
c.90947T= (p.Val30316=)
c.90944T= (p.Val30315=)
c.87986T= (p.Val29329=)
c.69602T= (p.Val23201=)
c.91097T= (p.Val30366=)
c.91094T= (p.Val30365=)
c.90527T= (p.Val30176=)
c.87869T= (p.Val29290=)
c.87788T= (p.Val29263=)
c.69551T= (p.Val23184=)
c.59405T= (p.Val19802=)
2g.178543317A>CCA349446173TTN,TTN-AS1c.88952T>G (p.Val29651Gly)
c.70037T>G (p.Val23346Gly)
c.69836T>G (p.Val23279Gly)
c.69461T>G (p.Val23154Gly)
c.96656T>G (p.Val32219Gly)
c.91733T>G (p.Val30578Gly)
n.446+19681A>C
n.2043+956A>C
c.95753T>G (p.Val31918Gly)
c.69647T>G (p.Val23216Gly)
c.69506T>G (p.Val23169Gly)
c.95549T>G (p.Val31850Gly)
c.90947T>G (p.Val30316Gly)
c.90944T>G (p.Val30315Gly)
c.87986T>G (p.Val29329Gly)
c.69602T>G (p.Val23201Gly)
c.91097T>G (p.Val30366Gly)
c.91094T>G (p.Val30365Gly)
c.90527T>G (p.Val30176Gly)
c.87869T>G (p.Val29290Gly)
c.87788T>G (p.Val29263Gly)
c.69551T>G (p.Val23184Gly)
c.59405T>G (p.Val19802Gly)
2g.178543317A>GCA349446175TTN,TTN-AS1c.88952T>C (p.Val29651Ala)
c.70037T>C (p.Val23346Ala)
c.69836T>C (p.Val23279Ala)
c.69461T>C (p.Val23154Ala)
c.96656T>C (p.Val32219Ala)
c.91733T>C (p.Val30578Ala)
n.446+19681A>G
n.2043+956A>G
c.95753T>C (p.Val31918Ala)
c.69647T>C (p.Val23216Ala)
c.69506T>C (p.Val23169Ala)
c.95549T>C (p.Val31850Ala)
c.90947T>C (p.Val30316Ala)
c.90944T>C (p.Val30315Ala)
c.87986T>C (p.Val29329Ala)
c.69602T>C (p.Val23201Ala)
c.91097T>C (p.Val30366Ala)
c.91094T>C (p.Val30365Ala)
c.90527T>C (p.Val30176Ala)
c.87869T>C (p.Val29290Ala)
c.87788T>C (p.Val29263Ala)
c.69551T>C (p.Val23184Ala)
c.59405T>C (p.Val19802Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178543317A>TCA349446178TTN,TTN-AS1c.88952T>A (p.Val29651Asp)
c.70037T>A (p.Val23346Asp)
c.69836T>A (p.Val23279Asp)
c.69461T>A (p.Val23154Asp)
c.96656T>A (p.Val32219Asp)
c.91733T>A (p.Val30578Asp)
n.446+19681A>T
n.2043+956A>T
c.95753T>A (p.Val31918Asp)
c.69647T>A (p.Val23216Asp)
c.69506T>A (p.Val23169Asp)
c.95549T>A (p.Val31850Asp)
c.90947T>A (p.Val30316Asp)
c.90944T>A (p.Val30315Asp)
c.87986T>A (p.Val29329Asp)
c.69602T>A (p.Val23201Asp)
c.91097T>A (p.Val30366Asp)
c.91094T>A (p.Val30365Asp)
c.90527T>A (p.Val30176Asp)
c.87869T>A (p.Val29290Asp)
c.87788T>A (p.Val29263Asp)
c.69551T>A (p.Val23184Asp)
c.59405T>A (p.Val19802Asp)
2g.178543318C>ACA223993TTN,TTN-AS1c.88951G>T (p.Val29651Phe)
c.70036G>T (p.Val23346Phe)
c.69835G>T (p.Val23279Phe)
c.69460G>T (p.Val23154Phe)
c.96655G>T (p.Val32219Phe)
c.91732G>T (p.Val30578Phe)
n.446+19682C>A
n.2043+957C>A
c.95752G>T (p.Val31918Phe)
c.69646G>T (p.Val23216Phe)
c.69505G>T (p.Val23169Phe)
c.95548G>T (p.Val31850Phe)
c.90946G>T (p.Val30316Phe)
c.90943G>T (p.Val30315Phe)
c.87985G>T (p.Val29329Phe)
c.69601G>T (p.Val23201Phe)
c.91096G>T (p.Val30366Phe)
c.91093G>T (p.Val30365Phe)
c.90526G>T (p.Val30176Phe)
c.87868G>T (p.Val29290Phe)
c.87787G>T (p.Val29263Phe)
c.69550G>T (p.Val23184Phe)
c.59404G>T (p.Val19802Phe)
 ClinVar dbSNP gnomAD v4
2g.178543318C=CA1310520642TTN,TTN-AS1c.88951G= (p.Val29651=)
c.70036G= (p.Val23346=)
c.69835G= (p.Val23279=)
c.69460G= (p.Val23154=)
c.96655G= (p.Val32219=)
c.91732G= (p.Val30578=)
n.446+19682C=
n.2043+957C=
c.95752G= (p.Val31918=)
c.69646G= (p.Val23216=)
c.69505G= (p.Val23169=)
c.95548G= (p.Val31850=)
c.90946G= (p.Val30316=)
c.90943G= (p.Val30315=)
c.87985G= (p.Val29329=)
c.69601G= (p.Val23201=)
c.91096G= (p.Val30366=)
c.91093G= (p.Val30365=)
c.90526G= (p.Val30176=)
c.87868G= (p.Val29290=)
c.87787G= (p.Val29263=)
c.69550G= (p.Val23184=)
c.59404G= (p.Val19802=)
2g.178543318C>GCA349446183TTN,TTN-AS1c.88951G>C (p.Val29651Leu)
c.70036G>C (p.Val23346Leu)
c.69835G>C (p.Val23279Leu)
c.69460G>C (p.Val23154Leu)
c.96655G>C (p.Val32219Leu)
c.91732G>C (p.Val30578Leu)
n.446+19682C>G
n.2043+957C>G
c.95752G>C (p.Val31918Leu)
c.69646G>C (p.Val23216Leu)
c.69505G>C (p.Val23169Leu)
c.95548G>C (p.Val31850Leu)
c.90946G>C (p.Val30316Leu)
c.90943G>C (p.Val30315Leu)
c.87985G>C (p.Val29329Leu)
c.69601G>C (p.Val23201Leu)
c.91096G>C (p.Val30366Leu)
c.91093G>C (p.Val30365Leu)
c.90526G>C (p.Val30176Leu)
c.87868G>C (p.Val29290Leu)
c.87787G>C (p.Val29263Leu)
c.69550G>C (p.Val23184Leu)
c.59404G>C (p.Val19802Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178543318C>TCA10606182TTN,TTN-AS1c.88951G>A (p.Val29651Ile)
c.70036G>A (p.Val23346Ile)
c.69835G>A (p.Val23279Ile)
c.69460G>A (p.Val23154Ile)
c.96655G>A (p.Val32219Ile)
c.91732G>A (p.Val30578Ile)
n.446+19682C>T
n.2043+957C>T
c.95752G>A (p.Val31918Ile)
c.69646G>A (p.Val23216Ile)
c.69505G>A (p.Val23169Ile)
c.95548G>A (p.Val31850Ile)
c.90946G>A (p.Val30316Ile)
c.90943G>A (p.Val30315Ile)
c.87985G>A (p.Val29329Ile)
c.69601G>A (p.Val23201Ile)
c.91096G>A (p.Val30366Ile)
c.91093G>A (p.Val30365Ile)
c.90526G>A (p.Val30176Ile)
c.87868G>A (p.Val29290Ile)
c.87787G>A (p.Val29263Ile)
c.69550G>A (p.Val23184Ile)
c.59404G>A (p.Val19802Ile)
 ClinVar dbSNP gnomAD v4
2g.178543319A=CA1310520645TTN,TTN-AS1c.88950T= (p.Thr29650=)
c.70035T= (p.Thr23345=)
c.69834T= (p.Thr23278=)
c.69459T= (p.Thr23153=)
c.96654T= (p.Thr32218=)
c.91731T= (p.Thr30577=)
n.446+19683A=
n.2043+958A=
c.95751T= (p.Thr31917=)
c.69645T= (p.Thr23215=)
c.69504T= (p.Thr23168=)
c.95547T= (p.Thr31849=)
c.90945T= (p.Thr30315=)
c.90942T= (p.Thr30314=)
c.87984T= (p.Thr29328=)
c.69600T= (p.Thr23200=)
c.91095T= (p.Thr30365=)
c.91092T= (p.Thr30364=)
c.90525T= (p.Thr30175=)
c.87867T= (p.Thr29289=)
c.87786T= (p.Thr29262=)
c.69549T= (p.Thr23183=)
c.59403T= (p.Thr19801=)
2g.178543319A>CCA430241379TTN,TTN-AS1c.88950T>G (p.Thr29650=)
c.70035T>G (p.Thr23345=)
c.69834T>G (p.Thr23278=)
c.69459T>G (p.Thr23153=)
c.96654T>G (p.Thr32218=)
c.91731T>G (p.Thr30577=)
n.446+19683A>C
n.2043+958A>C
c.95751T>G (p.Thr31917=)
c.69645T>G (p.Thr23215=)
c.69504T>G (p.Thr23168=)
c.95547T>G (p.Thr31849=)
c.90945T>G (p.Thr30315=)
c.90942T>G (p.Thr30314=)
c.87984T>G (p.Thr29328=)
c.69600T>G (p.Thr23200=)
c.91095T>G (p.Thr30365=)
c.91092T>G (p.Thr30364=)
c.90525T>G (p.Thr30175=)
c.87867T>G (p.Thr29289=)
c.87786T>G (p.Thr29262=)
c.69549T>G (p.Thr23183=)
c.59403T>G (p.Thr19801=)
2g.178543319A>GCA1986728TTN,TTN-AS1c.88950T>C (p.Thr29650=)
c.70035T>C (p.Thr23345=)
c.69834T>C (p.Thr23278=)
c.69459T>C (p.Thr23153=)
c.96654T>C (p.Thr32218=)
c.91731T>C (p.Thr30577=)
n.446+19683A>G
n.2043+958A>G
c.95751T>C (p.Thr31917=)
c.69645T>C (p.Thr23215=)
c.69504T>C (p.Thr23168=)
c.95547T>C (p.Thr31849=)
c.90945T>C (p.Thr30315=)
c.90942T>C (p.Thr30314=)
c.87984T>C (p.Thr29328=)
c.69600T>C (p.Thr23200=)
c.91095T>C (p.Thr30365=)
c.91092T>C (p.Thr30364=)
c.90525T>C (p.Thr30175=)
c.87867T>C (p.Thr29289=)
c.87786T>C (p.Thr29262=)
c.69549T>C (p.Thr23183=)
c.59403T>C (p.Thr19801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543319A>TCA430241382TTN,TTN-AS1c.88950T>A (p.Thr29650=)
c.70035T>A (p.Thr23345=)
c.69834T>A (p.Thr23278=)
c.69459T>A (p.Thr23153=)
c.96654T>A (p.Thr32218=)
c.91731T>A (p.Thr30577=)
n.446+19683A>T
n.2043+958A>T
c.95751T>A (p.Thr31917=)
c.69645T>A (p.Thr23215=)
c.69504T>A (p.Thr23168=)
c.95547T>A (p.Thr31849=)
c.90945T>A (p.Thr30315=)
c.90942T>A (p.Thr30314=)
c.87984T>A (p.Thr29328=)
c.69600T>A (p.Thr23200=)
c.91095T>A (p.Thr30365=)
c.91092T>A (p.Thr30364=)
c.90525T>A (p.Thr30175=)
c.87867T>A (p.Thr29289=)
c.87786T>A (p.Thr29262=)
c.69549T>A (p.Thr23183=)
c.59403T>A (p.Thr19801=)
2g.178543319_178543320delCA2577170437TTN,TTN-AS1c.88949_88950del (p.Thr29650SerfsTer14)
c.70034_70035del (p.Thr23345SerfsTer14)
c.69833_69834del (p.Thr23278SerfsTer14)
c.69458_69459del (p.Thr23153SerfsTer14)
c.96653_96654del (p.Thr32218SerfsTer14)
c.91730_91731del (p.Thr30577SerfsTer14)
n.446+19683_446+19684del
n.2043+958_2043+959del
c.95750_95751del (p.Thr31917SerfsTer14)
c.69644_69645del (p.Thr23215SerfsTer14)
c.69503_69504del (p.Thr23168SerfsTer14)
c.95546_95547del (p.Thr31849SerfsTer14)
c.90944_90945del (p.Thr30315SerfsTer14)
c.90941_90942del (p.Thr30314SerfsTer14)
c.87983_87984del (p.Thr29328SerfsTer14)
c.69599_69600del (p.Thr23200SerfsTer14)
c.91094_91095del (p.Thr30365SerfsTer14)
c.91091_91092del (p.Thr30364SerfsTer14)
c.90524_90525del (p.Thr30175SerfsTer14)
c.87866_87867del (p.Thr29289SerfsTer14)
c.87785_87786del (p.Thr29262SerfsTer14)
c.69548_69549del (p.Thr23183SerfsTer14)
c.59402_59403del (p.Thr19801SerfsTer14)
2g.178543320G>ACA349446196TTN,TTN-AS1c.88949C>T (p.Thr29650Ile)
c.70034C>T (p.Thr23345Ile)
c.69833C>T (p.Thr23278Ile)
c.69458C>T (p.Thr23153Ile)
c.96653C>T (p.Thr32218Ile)
c.91730C>T (p.Thr30577Ile)
n.446+19684G>A
n.2043+959G>A
c.95750C>T (p.Thr31917Ile)
c.69644C>T (p.Thr23215Ile)
c.69503C>T (p.Thr23168Ile)
c.95546C>T (p.Thr31849Ile)
c.90944C>T (p.Thr30315Ile)
c.90941C>T (p.Thr30314Ile)
c.87983C>T (p.Thr29328Ile)
c.69599C>T (p.Thr23200Ile)
c.91094C>T (p.Thr30365Ile)
c.91091C>T (p.Thr30364Ile)
c.90524C>T (p.Thr30175Ile)
c.87866C>T (p.Thr29289Ile)
c.87785C>T (p.Thr29262Ile)
c.69548C>T (p.Thr23183Ile)
c.59402C>T (p.Thr19801Ile)
2g.178543320G>CCA349446195TTN,TTN-AS1c.88949C>G (p.Thr29650Ser)
c.70034C>G (p.Thr23345Ser)
c.69833C>G (p.Thr23278Ser)
c.69458C>G (p.Thr23153Ser)
c.96653C>G (p.Thr32218Ser)
c.91730C>G (p.Thr30577Ser)
n.446+19684G>C
n.2043+959G>C
c.95750C>G (p.Thr31917Ser)
c.69644C>G (p.Thr23215Ser)
c.69503C>G (p.Thr23168Ser)
c.95546C>G (p.Thr31849Ser)
c.90944C>G (p.Thr30315Ser)
c.90941C>G (p.Thr30314Ser)
c.87983C>G (p.Thr29328Ser)
c.69599C>G (p.Thr23200Ser)
c.91094C>G (p.Thr30365Ser)
c.91091C>G (p.Thr30364Ser)
c.90524C>G (p.Thr30175Ser)
c.87866C>G (p.Thr29289Ser)
c.87785C>G (p.Thr29262Ser)
c.69548C>G (p.Thr23183Ser)
c.59402C>G (p.Thr19801Ser)
2g.178543320G>TCA349446192TTN,TTN-AS1c.88949C>A (p.Thr29650Asn)
c.70034C>A (p.Thr23345Asn)
c.69833C>A (p.Thr23278Asn)
c.69458C>A (p.Thr23153Asn)
c.96653C>A (p.Thr32218Asn)
c.91730C>A (p.Thr30577Asn)
n.446+19684G>T
n.2043+959G>T
c.95750C>A (p.Thr31917Asn)
c.69644C>A (p.Thr23215Asn)
c.69503C>A (p.Thr23168Asn)
c.95546C>A (p.Thr31849Asn)
c.90944C>A (p.Thr30315Asn)
c.90941C>A (p.Thr30314Asn)
c.87983C>A (p.Thr29328Asn)
c.69599C>A (p.Thr23200Asn)
c.91094C>A (p.Thr30365Asn)
c.91091C>A (p.Thr30364Asn)
c.90524C>A (p.Thr30175Asn)
c.87866C>A (p.Thr29289Asn)
c.87785C>A (p.Thr29262Asn)
c.69548C>A (p.Thr23183Asn)
c.59402C>A (p.Thr19801Asn)
2g.178543321T>ACA349446199TTN,TTN-AS1c.88948A>T (p.Thr29650Ser)
c.70033A>T (p.Thr23345Ser)
c.69832A>T (p.Thr23278Ser)
c.69457A>T (p.Thr23153Ser)
c.96652A>T (p.Thr32218Ser)
c.91729A>T (p.Thr30577Ser)
n.446+19685T>A
n.2043+960T>A
c.95749A>T (p.Thr31917Ser)
c.69643A>T (p.Thr23215Ser)
c.69502A>T (p.Thr23168Ser)
c.95545A>T (p.Thr31849Ser)
c.90943A>T (p.Thr30315Ser)
c.90940A>T (p.Thr30314Ser)
c.87982A>T (p.Thr29328Ser)
c.69598A>T (p.Thr23200Ser)
c.91093A>T (p.Thr30365Ser)
c.91090A>T (p.Thr30364Ser)
c.90523A>T (p.Thr30175Ser)
c.87865A>T (p.Thr29289Ser)
c.87784A>T (p.Thr29262Ser)
c.69547A>T (p.Thr23183Ser)
c.59401A>T (p.Thr19801Ser)
2g.178543321T>CCA349446203TTN,TTN-AS1c.88948A>G (p.Thr29650Ala)
c.70033A>G (p.Thr23345Ala)
c.69832A>G (p.Thr23278Ala)
c.69457A>G (p.Thr23153Ala)
c.96652A>G (p.Thr32218Ala)
c.91729A>G (p.Thr30577Ala)
n.446+19685T>C
n.2043+960T>C
c.95749A>G (p.Thr31917Ala)
c.69643A>G (p.Thr23215Ala)
c.69502A>G (p.Thr23168Ala)
c.95545A>G (p.Thr31849Ala)
c.90943A>G (p.Thr30315Ala)
c.90940A>G (p.Thr30314Ala)
c.87982A>G (p.Thr29328Ala)
c.69598A>G (p.Thr23200Ala)
c.91093A>G (p.Thr30365Ala)
c.91090A>G (p.Thr30364Ala)
c.90523A>G (p.Thr30175Ala)
c.87865A>G (p.Thr29289Ala)
c.87784A>G (p.Thr29262Ala)
c.69547A>G (p.Thr23183Ala)
c.59401A>G (p.Thr19801Ala)
2g.178543321T>GCA349446200TTN,TTN-AS1c.88948A>C (p.Thr29650Pro)
c.70033A>C (p.Thr23345Pro)
c.69832A>C (p.Thr23278Pro)
c.69457A>C (p.Thr23153Pro)
c.96652A>C (p.Thr32218Pro)
c.91729A>C (p.Thr30577Pro)
n.446+19685T>G
n.2043+960T>G
c.95749A>C (p.Thr31917Pro)
c.69643A>C (p.Thr23215Pro)
c.69502A>C (p.Thr23168Pro)
c.95545A>C (p.Thr31849Pro)
c.90943A>C (p.Thr30315Pro)
c.90940A>C (p.Thr30314Pro)
c.87982A>C (p.Thr29328Pro)
c.69598A>C (p.Thr23200Pro)
c.91093A>C (p.Thr30365Pro)
c.91090A>C (p.Thr30364Pro)
c.90523A>C (p.Thr30175Pro)
c.87865A>C (p.Thr29289Pro)
c.87784A>C (p.Thr29262Pro)
c.69547A>C (p.Thr23183Pro)
c.59401A>C (p.Thr19801Pro)
2g.178543322G>ACA430241390TTN,TTN-AS1c.88947C>T (p.Ser29649=)
c.70032C>T (p.Ser23344=)
c.69831C>T (p.Ser23277=)
c.69456C>T (p.Ser23152=)
c.96651C>T (p.Ser32217=)
c.91728C>T (p.Ser30576=)
n.446+19686G>A
n.2043+961G>A
c.95748C>T (p.Ser31916=)
c.69642C>T (p.Ser23214=)
c.69501C>T (p.Ser23167=)
c.95544C>T (p.Ser31848=)
c.90942C>T (p.Ser30314=)
c.90939C>T (p.Ser30313=)
c.87981C>T (p.Ser29327=)
c.69597C>T (p.Ser23199=)
c.91092C>T (p.Ser30364=)
c.91089C>T (p.Ser30363=)
c.90522C>T (p.Ser30174=)
c.87864C>T (p.Ser29288=)
c.87783C>T (p.Ser29261=)
c.69546C>T (p.Ser23182=)
c.59400C>T (p.Ser19800=)
2g.178543322G>CCA430241391TTN,TTN-AS1c.88947C>G (p.Ser29649=)
c.70032C>G (p.Ser23344=)
c.69831C>G (p.Ser23277=)
c.69456C>G (p.Ser23152=)
c.96651C>G (p.Ser32217=)
c.91728C>G (p.Ser30576=)
n.446+19686G>C
n.2043+961G>C
c.95748C>G (p.Ser31916=)
c.69642C>G (p.Ser23214=)
c.69501C>G (p.Ser23167=)
c.95544C>G (p.Ser31848=)
c.90942C>G (p.Ser30314=)
c.90939C>G (p.Ser30313=)
c.87981C>G (p.Ser29327=)
c.69597C>G (p.Ser23199=)
c.91092C>G (p.Ser30364=)
c.91089C>G (p.Ser30363=)
c.90522C>G (p.Ser30174=)
c.87864C>G (p.Ser29288=)
c.87783C>G (p.Ser29261=)
c.69546C>G (p.Ser23182=)
c.59400C>G (p.Ser19800=)
2g.178543322G>TCA430241392TTN,TTN-AS1c.88947C>A (p.Ser29649=)
c.70032C>A (p.Ser23344=)
c.69831C>A (p.Ser23277=)
c.69456C>A (p.Ser23152=)
c.96651C>A (p.Ser32217=)
c.91728C>A (p.Ser30576=)
n.446+19686G>T
n.2043+961G>T
c.95748C>A (p.Ser31916=)
c.69642C>A (p.Ser23214=)
c.69501C>A (p.Ser23167=)
c.95544C>A (p.Ser31848=)
c.90942C>A (p.Ser30314=)
c.90939C>A (p.Ser30313=)
c.87981C>A (p.Ser29327=)
c.69597C>A (p.Ser23199=)
c.91092C>A (p.Ser30364=)
c.91089C>A (p.Ser30363=)
c.90522C>A (p.Ser30174=)
c.87864C>A (p.Ser29288=)
c.87783C>A (p.Ser29261=)
c.69546C>A (p.Ser23182=)
c.59400C>A (p.Ser19800=)
2g.178543323G>ACA1986729TTN,TTN-AS1c.88946C>T (p.Ser29649Phe)
c.70031C>T (p.Ser23344Phe)
c.69830C>T (p.Ser23277Phe)
c.69455C>T (p.Ser23152Phe)
c.96650C>T (p.Ser32217Phe)
c.91727C>T (p.Ser30576Phe)
n.446+19687G>A
n.2043+962G>A
c.95747C>T (p.Ser31916Phe)
c.69641C>T (p.Ser23214Phe)
c.69500C>T (p.Ser23167Phe)
c.95543C>T (p.Ser31848Phe)
c.90941C>T (p.Ser30314Phe)
c.90938C>T (p.Ser30313Phe)
c.87980C>T (p.Ser29327Phe)
c.69596C>T (p.Ser23199Phe)
c.91091C>T (p.Ser30364Phe)
c.91088C>T (p.Ser30363Phe)
c.90521C>T (p.Ser30174Phe)
c.87863C>T (p.Ser29288Phe)
c.87782C>T (p.Ser29261Phe)
c.69545C>T (p.Ser23182Phe)
c.59399C>T (p.Ser19800Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543323G>CCA349446217TTN,TTN-AS1c.88946C>G (p.Ser29649Cys)
c.70031C>G (p.Ser23344Cys)
c.69830C>G (p.Ser23277Cys)
c.69455C>G (p.Ser23152Cys)
c.96650C>G (p.Ser32217Cys)
c.91727C>G (p.Ser30576Cys)
n.446+19687G>C
n.2043+962G>C
c.95747C>G (p.Ser31916Cys)
c.69641C>G (p.Ser23214Cys)
c.69500C>G (p.Ser23167Cys)
c.95543C>G (p.Ser31848Cys)
c.90941C>G (p.Ser30314Cys)
c.90938C>G (p.Ser30313Cys)
c.87980C>G (p.Ser29327Cys)
c.69596C>G (p.Ser23199Cys)
c.91091C>G (p.Ser30364Cys)
c.91088C>G (p.Ser30363Cys)
c.90521C>G (p.Ser30174Cys)
c.87863C>G (p.Ser29288Cys)
c.87782C>G (p.Ser29261Cys)
c.69545C>G (p.Ser23182Cys)
c.59399C>G (p.Ser19800Cys)
2g.178543323G=CA1310520646TTN,TTN-AS1c.88946C= (p.Ser29649=)
c.70031C= (p.Ser23344=)
c.69830C= (p.Ser23277=)
c.69455C= (p.Ser23152=)
c.96650C= (p.Ser32217=)
c.91727C= (p.Ser30576=)
n.446+19687G=
n.2043+962G=
c.95747C= (p.Ser31916=)
c.69641C= (p.Ser23214=)
c.69500C= (p.Ser23167=)
c.95543C= (p.Ser31848=)
c.90941C= (p.Ser30314=)
c.90938C= (p.Ser30313=)
c.87980C= (p.Ser29327=)
c.69596C= (p.Ser23199=)
c.91091C= (p.Ser30364=)
c.91088C= (p.Ser30363=)
c.90521C= (p.Ser30174=)
c.87863C= (p.Ser29288=)
c.87782C= (p.Ser29261=)
c.69545C= (p.Ser23182=)
c.59399C= (p.Ser19800=)
2g.178543323G>TCA349446214TTN,TTN-AS1c.88946C>A (p.Ser29649Tyr)
c.70031C>A (p.Ser23344Tyr)
c.69830C>A (p.Ser23277Tyr)
c.69455C>A (p.Ser23152Tyr)
c.96650C>A (p.Ser32217Tyr)
c.91727C>A (p.Ser30576Tyr)
n.446+19687G>T
n.2043+962G>T
c.95747C>A (p.Ser31916Tyr)
c.69641C>A (p.Ser23214Tyr)
c.69500C>A (p.Ser23167Tyr)
c.95543C>A (p.Ser31848Tyr)
c.90941C>A (p.Ser30314Tyr)
c.90938C>A (p.Ser30313Tyr)
c.87980C>A (p.Ser29327Tyr)
c.69596C>A (p.Ser23199Tyr)
c.91091C>A (p.Ser30364Tyr)
c.91088C>A (p.Ser30363Tyr)
c.90521C>A (p.Ser30174Tyr)
c.87863C>A (p.Ser29288Tyr)
c.87782C>A (p.Ser29261Tyr)
c.69545C>A (p.Ser23182Tyr)
c.59399C>A (p.Ser19800Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.178543324A>CCA349446233TTN,TTN-AS1c.88945T>G (p.Ser29649Ala)
c.70030T>G (p.Ser23344Ala)
c.69829T>G (p.Ser23277Ala)
c.69454T>G (p.Ser23152Ala)
c.96649T>G (p.Ser32217Ala)
c.91726T>G (p.Ser30576Ala)
n.446+19688A>C
n.2043+963A>C
c.95746T>G (p.Ser31916Ala)
c.69640T>G (p.Ser23214Ala)
c.69499T>G (p.Ser23167Ala)
c.95542T>G (p.Ser31848Ala)
c.90940T>G (p.Ser30314Ala)
c.90937T>G (p.Ser30313Ala)
c.87979T>G (p.Ser29327Ala)
c.69595T>G (p.Ser23199Ala)
c.91090T>G (p.Ser30364Ala)
c.91087T>G (p.Ser30363Ala)
c.90520T>G (p.Ser30174Ala)
c.87862T>G (p.Ser29288Ala)
c.87781T>G (p.Ser29261Ala)
c.69544T>G (p.Ser23182Ala)
c.59398T>G (p.Ser19800Ala)
2g.178543324A>GCA349446238TTN,TTN-AS1c.88945T>C (p.Ser29649Pro)
c.70030T>C (p.Ser23344Pro)
c.69829T>C (p.Ser23277Pro)
c.69454T>C (p.Ser23152Pro)
c.96649T>C (p.Ser32217Pro)
c.91726T>C (p.Ser30576Pro)
n.446+19688A>G
n.2043+963A>G
c.95746T>C (p.Ser31916Pro)
c.69640T>C (p.Ser23214Pro)
c.69499T>C (p.Ser23167Pro)
c.95542T>C (p.Ser31848Pro)
c.90940T>C (p.Ser30314Pro)
c.90937T>C (p.Ser30313Pro)
c.87979T>C (p.Ser29327Pro)
c.69595T>C (p.Ser23199Pro)
c.91090T>C (p.Ser30364Pro)
c.91087T>C (p.Ser30363Pro)
c.90520T>C (p.Ser30174Pro)
c.87862T>C (p.Ser29288Pro)
c.87781T>C (p.Ser29261Pro)
c.69544T>C (p.Ser23182Pro)
c.59398T>C (p.Ser19800Pro)
 gnomAD v4
2g.178543324A>TCA349446235TTN,TTN-AS1c.88945T>A (p.Ser29649Thr)
c.70030T>A (p.Ser23344Thr)
c.69829T>A (p.Ser23277Thr)
c.69454T>A (p.Ser23152Thr)
c.96649T>A (p.Ser32217Thr)
c.91726T>A (p.Ser30576Thr)
n.446+19688A>T
n.2043+963A>T
c.95746T>A (p.Ser31916Thr)
c.69640T>A (p.Ser23214Thr)
c.69499T>A (p.Ser23167Thr)
c.95542T>A (p.Ser31848Thr)
c.90940T>A (p.Ser30314Thr)
c.90937T>A (p.Ser30313Thr)
c.87979T>A (p.Ser29327Thr)
c.69595T>A (p.Ser23199Thr)
c.91090T>A (p.Ser30364Thr)
c.91087T>A (p.Ser30363Thr)
c.90520T>A (p.Ser30174Thr)
c.87862T>A (p.Ser29288Thr)
c.87781T>A (p.Ser29261Thr)
c.69544T>A (p.Ser23182Thr)
c.59398T>A (p.Ser19800Thr)
 gnomAD v4
2g.178543325T>ACA349446242TTN,TTN-AS1c.88944A>T (p.Lys29648Asn)
c.70029A>T (p.Lys23343Asn)
c.69828A>T (p.Lys23276Asn)
c.69453A>T (p.Lys23151Asn)
c.96648A>T (p.Lys32216Asn)
c.91725A>T (p.Lys30575Asn)
n.446+19689T>A
n.2043+964T>A
c.95745A>T (p.Lys31915Asn)
c.69639A>T (p.Lys23213Asn)
c.69498A>T (p.Lys23166Asn)
c.95541A>T (p.Lys31847Asn)
c.90939A>T (p.Lys30313Asn)
c.90936A>T (p.Lys30312Asn)
c.87978A>T (p.Lys29326Asn)
c.69594A>T (p.Lys23198Asn)
c.91089A>T (p.Lys30363Asn)
c.91086A>T (p.Lys30362Asn)
c.90519A>T (p.Lys30173Asn)
c.87861A>T (p.Lys29287Asn)
c.87780A>T (p.Lys29260Asn)
c.69543A>T (p.Lys23181Asn)
c.59397A>T (p.Lys19799Asn)
2g.178543325T>CCA430241396TTN,TTN-AS1c.88944A>G (p.Lys29648=)
c.70029A>G (p.Lys23343=)
c.69828A>G (p.Lys23276=)
c.69453A>G (p.Lys23151=)
c.96648A>G (p.Lys32216=)
c.91725A>G (p.Lys30575=)
n.446+19689T>C
n.2043+964T>C
c.95745A>G (p.Lys31915=)
c.69639A>G (p.Lys23213=)
c.69498A>G (p.Lys23166=)
c.95541A>G (p.Lys31847=)
c.90939A>G (p.Lys30313=)
c.90936A>G (p.Lys30312=)
c.87978A>G (p.Lys29326=)
c.69594A>G (p.Lys23198=)
c.91089A>G (p.Lys30363=)
c.91086A>G (p.Lys30362=)
c.90519A>G (p.Lys30173=)
c.87861A>G (p.Lys29287=)
c.87780A>G (p.Lys29260=)
c.69543A>G (p.Lys23181=)
c.59397A>G (p.Lys19799=)
 gnomAD v4
2g.178543325T>GCA349446243TTN,TTN-AS1c.88944A>C (p.Lys29648Asn)
c.70029A>C (p.Lys23343Asn)
c.69828A>C (p.Lys23276Asn)
c.69453A>C (p.Lys23151Asn)
c.96648A>C (p.Lys32216Asn)
c.91725A>C (p.Lys30575Asn)
n.446+19689T>G
n.2043+964T>G
c.95745A>C (p.Lys31915Asn)
c.69639A>C (p.Lys23213Asn)
c.69498A>C (p.Lys23166Asn)
c.95541A>C (p.Lys31847Asn)
c.90939A>C (p.Lys30313Asn)
c.90936A>C (p.Lys30312Asn)
c.87978A>C (p.Lys29326Asn)
c.69594A>C (p.Lys23198Asn)
c.91089A>C (p.Lys30363Asn)
c.91086A>C (p.Lys30362Asn)
c.90519A>C (p.Lys30173Asn)
c.87861A>C (p.Lys29287Asn)
c.87780A>C (p.Lys29260Asn)
c.69543A>C (p.Lys23181Asn)
c.59397A>C (p.Lys19799Asn)
2g.178543326T>ACA349446245TTN,TTN-AS1c.88943A>T (p.Lys29648Ile)
c.70028A>T (p.Lys23343Ile)
c.69827A>T (p.Lys23276Ile)
c.69452A>T (p.Lys23151Ile)
c.96647A>T (p.Lys32216Ile)
c.91724A>T (p.Lys30575Ile)
n.446+19690T>A
n.2043+965T>A
c.95744A>T (p.Lys31915Ile)
c.69638A>T (p.Lys23213Ile)
c.69497A>T (p.Lys23166Ile)
c.95540A>T (p.Lys31847Ile)
c.90938A>T (p.Lys30313Ile)
c.90935A>T (p.Lys30312Ile)
c.87977A>T (p.Lys29326Ile)
c.69593A>T (p.Lys23198Ile)
c.91088A>T (p.Lys30363Ile)
c.91085A>T (p.Lys30362Ile)
c.90518A>T (p.Lys30173Ile)
c.87860A>T (p.Lys29287Ile)
c.87779A>T (p.Lys29260Ile)
c.69542A>T (p.Lys23181Ile)
c.59396A>T (p.Lys19799Ile)
2g.178543326T>CCA349446250TTN,TTN-AS1c.88943A>G (p.Lys29648Arg)
c.70028A>G (p.Lys23343Arg)
c.69827A>G (p.Lys23276Arg)
c.69452A>G (p.Lys23151Arg)
c.96647A>G (p.Lys32216Arg)
c.91724A>G (p.Lys30575Arg)
n.446+19690T>C
n.2043+965T>C
c.95744A>G (p.Lys31915Arg)
c.69638A>G (p.Lys23213Arg)
c.69497A>G (p.Lys23166Arg)
c.95540A>G (p.Lys31847Arg)
c.90938A>G (p.Lys30313Arg)
c.90935A>G (p.Lys30312Arg)
c.87977A>G (p.Lys29326Arg)
c.69593A>G (p.Lys23198Arg)
c.91088A>G (p.Lys30363Arg)
c.91085A>G (p.Lys30362Arg)
c.90518A>G (p.Lys30173Arg)
c.87860A>G (p.Lys29287Arg)
c.87779A>G (p.Lys29260Arg)
c.69542A>G (p.Lys23181Arg)
c.59396A>G (p.Lys19799Arg)
2g.178543326T>GCA349446247TTN,TTN-AS1c.88943A>C (p.Lys29648Thr)
c.70028A>C (p.Lys23343Thr)
c.69827A>C (p.Lys23276Thr)
c.69452A>C (p.Lys23151Thr)
c.96647A>C (p.Lys32216Thr)
c.91724A>C (p.Lys30575Thr)
n.446+19690T>G
n.2043+965T>G
c.95744A>C (p.Lys31915Thr)
c.69638A>C (p.Lys23213Thr)
c.69497A>C (p.Lys23166Thr)
c.95540A>C (p.Lys31847Thr)
c.90938A>C (p.Lys30313Thr)
c.90935A>C (p.Lys30312Thr)
c.87977A>C (p.Lys29326Thr)
c.69593A>C (p.Lys23198Thr)
c.91088A>C (p.Lys30363Thr)
c.91085A>C (p.Lys30362Thr)
c.90518A>C (p.Lys30173Thr)
c.87860A>C (p.Lys29287Thr)
c.87779A>C (p.Lys29260Thr)
c.69542A>C (p.Lys23181Thr)
c.59396A>C (p.Lys19799Thr)
 dbSNP gnomAD v4
2g.178543326T=CA1310520647TTN,TTN-AS1c.88943A= (p.Lys29648=)
c.70028A= (p.Lys23343=)
c.69827A= (p.Lys23276=)
c.69452A= (p.Lys23151=)
c.96647A= (p.Lys32216=)
c.91724A= (p.Lys30575=)
n.446+19690T=
n.2043+965T=
c.95744A= (p.Lys31915=)
c.69638A= (p.Lys23213=)
c.69497A= (p.Lys23166=)
c.95540A= (p.Lys31847=)
c.90938A= (p.Lys30313=)
c.90935A= (p.Lys30312=)
c.87977A= (p.Lys29326=)
c.69593A= (p.Lys23198=)
c.91088A= (p.Lys30363=)
c.91085A= (p.Lys30362=)
c.90518A= (p.Lys30173=)
c.87860A= (p.Lys29287=)
c.87779A= (p.Lys29260=)
c.69542A= (p.Lys23181=)
c.59396A= (p.Lys19799=)
2g.178543327T>ACA349446254TTN,TTN-AS1c.88942A>T (p.Lys29648Ter)
c.70027A>T (p.Lys23343Ter)
c.69826A>T (p.Lys23276Ter)
c.69451A>T (p.Lys23151Ter)
c.96646A>T (p.Lys32216Ter)
c.91723A>T (p.Lys30575Ter)
n.446+19691T>A
n.2043+966T>A
c.95743A>T (p.Lys31915Ter)
c.69637A>T (p.Lys23213Ter)
c.69496A>T (p.Lys23166Ter)
c.95539A>T (p.Lys31847Ter)
c.90937A>T (p.Lys30313Ter)
c.90934A>T (p.Lys30312Ter)
c.87976A>T (p.Lys29326Ter)
c.69592A>T (p.Lys23198Ter)
c.91087A>T (p.Lys30363Ter)
c.91084A>T (p.Lys30362Ter)
c.90517A>T (p.Lys30173Ter)
c.87859A>T (p.Lys29287Ter)
c.87778A>T (p.Lys29260Ter)
c.69541A>T (p.Lys23181Ter)
c.59395A>T (p.Lys19799Ter)
2g.178543327T>CCA349446256TTN,TTN-AS1c.88942A>G (p.Lys29648Glu)
c.70027A>G (p.Lys23343Glu)
c.69826A>G (p.Lys23276Glu)
c.69451A>G (p.Lys23151Glu)
c.96646A>G (p.Lys32216Glu)
c.91723A>G (p.Lys30575Glu)
n.446+19691T>C
n.2043+966T>C
c.95743A>G (p.Lys31915Glu)
c.69637A>G (p.Lys23213Glu)
c.69496A>G (p.Lys23166Glu)
c.95539A>G (p.Lys31847Glu)
c.90937A>G (p.Lys30313Glu)
c.90934A>G (p.Lys30312Glu)
c.87976A>G (p.Lys29326Glu)
c.69592A>G (p.Lys23198Glu)
c.91087A>G (p.Lys30363Glu)
c.91084A>G (p.Lys30362Glu)
c.90517A>G (p.Lys30173Glu)
c.87859A>G (p.Lys29287Glu)
c.87778A>G (p.Lys29260Glu)
c.69541A>G (p.Lys23181Glu)
c.59395A>G (p.Lys19799Glu)
2g.178543327T>GCA1986730TTN,TTN-AS1c.88942A>C (p.Lys29648Gln)
c.70027A>C (p.Lys23343Gln)
c.69826A>C (p.Lys23276Gln)
c.69451A>C (p.Lys23151Gln)
c.96646A>C (p.Lys32216Gln)
c.91723A>C (p.Lys30575Gln)
n.446+19691T>G
n.2043+966T>G
c.95743A>C (p.Lys31915Gln)
c.69637A>C (p.Lys23213Gln)
c.69496A>C (p.Lys23166Gln)
c.95539A>C (p.Lys31847Gln)
c.90937A>C (p.Lys30313Gln)
c.90934A>C (p.Lys30312Gln)
c.87976A>C (p.Lys29326Gln)
c.69592A>C (p.Lys23198Gln)
c.91087A>C (p.Lys30363Gln)
c.91084A>C (p.Lys30362Gln)
c.90517A>C (p.Lys30173Gln)
c.87859A>C (p.Lys29287Gln)
c.87778A>C (p.Lys29260Gln)
c.69541A>C (p.Lys23181Gln)
c.59395A>C (p.Lys19799Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543327T=CA1310520649TTN,TTN-AS1c.88942A= (p.Lys29648=)
c.70027A= (p.Lys23343=)
c.69826A= (p.Lys23276=)
c.69451A= (p.Lys23151=)
c.96646A= (p.Lys32216=)
c.91723A= (p.Lys30575=)
n.446+19691T=
n.2043+966T=
c.95743A= (p.Lys31915=)
c.69637A= (p.Lys23213=)
c.69496A= (p.Lys23166=)
c.95539A= (p.Lys31847=)
c.90937A= (p.Lys30313=)
c.90934A= (p.Lys30312=)
c.87976A= (p.Lys29326=)
c.69592A= (p.Lys23198=)
c.91087A= (p.Lys30363=)
c.91084A= (p.Lys30362=)
c.90517A= (p.Lys30173=)
c.87859A= (p.Lys29287=)
c.87778A= (p.Lys29260=)
c.69541A= (p.Lys23181=)
c.59395A= (p.Lys19799=)
2g.178543328G>ACA430241400TTN,TTN-AS1c.88941C>T (p.Thr29647=)
c.70026C>T (p.Thr23342=)
c.69825C>T (p.Thr23275=)
c.69450C>T (p.Thr23150=)
c.96645C>T (p.Thr32215=)
c.91722C>T (p.Thr30574=)
n.446+19692G>A
n.2043+967G>A
c.95742C>T (p.Thr31914=)
c.69636C>T (p.Thr23212=)
c.69495C>T (p.Thr23165=)
c.95538C>T (p.Thr31846=)
c.90936C>T (p.Thr30312=)
c.90933C>T (p.Thr30311=)
c.87975C>T (p.Thr29325=)
c.69591C>T (p.Thr23197=)
c.91086C>T (p.Thr30362=)
c.91083C>T (p.Thr30361=)
c.90516C>T (p.Thr30172=)
c.87858C>T (p.Thr29286=)
c.87777C>T (p.Thr29259=)
c.69540C>T (p.Thr23180=)
c.59394C>T (p.Thr19798=)
2g.178543328G>CCA430241401TTN,TTN-AS1c.88941C>G (p.Thr29647=)
c.70026C>G (p.Thr23342=)
c.69825C>G (p.Thr23275=)
c.69450C>G (p.Thr23150=)
c.96645C>G (p.Thr32215=)
c.91722C>G (p.Thr30574=)
n.446+19692G>C
n.2043+967G>C
c.95742C>G (p.Thr31914=)
c.69636C>G (p.Thr23212=)
c.69495C>G (p.Thr23165=)
c.95538C>G (p.Thr31846=)
c.90936C>G (p.Thr30312=)
c.90933C>G (p.Thr30311=)
c.87975C>G (p.Thr29325=)
c.69591C>G (p.Thr23197=)
c.91086C>G (p.Thr30362=)
c.91083C>G (p.Thr30361=)
c.90516C>G (p.Thr30172=)
c.87858C>G (p.Thr29286=)
c.87777C>G (p.Thr29259=)
c.69540C>G (p.Thr23180=)
c.59394C>G (p.Thr19798=)
2g.178543328G>TCA430241402TTN,TTN-AS1c.88941C>A (p.Thr29647=)
c.70026C>A (p.Thr23342=)
c.69825C>A (p.Thr23275=)
c.69450C>A (p.Thr23150=)
c.96645C>A (p.Thr32215=)
c.91722C>A (p.Thr30574=)
n.446+19692G>T
n.2043+967G>T
c.95742C>A (p.Thr31914=)
c.69636C>A (p.Thr23212=)
c.69495C>A (p.Thr23165=)
c.95538C>A (p.Thr31846=)
c.90936C>A (p.Thr30312=)
c.90933C>A (p.Thr30311=)
c.87975C>A (p.Thr29325=)
c.69591C>A (p.Thr23197=)
c.91086C>A (p.Thr30362=)
c.91083C>A (p.Thr30361=)
c.90516C>A (p.Thr30172=)
c.87858C>A (p.Thr29286=)
c.87777C>A (p.Thr29259=)
c.69540C>A (p.Thr23180=)
c.59394C>A (p.Thr19798=)
2g.178543329G>ACA60969876TTN,TTN-AS1c.88940C>T (p.Thr29647Ile)
c.70025C>T (p.Thr23342Ile)
c.69824C>T (p.Thr23275Ile)
c.69449C>T (p.Thr23150Ile)
c.96644C>T (p.Thr32215Ile)
c.91721C>T (p.Thr30574Ile)
n.446+19693G>A
n.2043+968G>A
c.95741C>T (p.Thr31914Ile)
c.69635C>T (p.Thr23212Ile)
c.69494C>T (p.Thr23165Ile)
c.95537C>T (p.Thr31846Ile)
c.90935C>T (p.Thr30312Ile)
c.90932C>T (p.Thr30311Ile)
c.87974C>T (p.Thr29325Ile)
c.69590C>T (p.Thr23197Ile)
c.91085C>T (p.Thr30362Ile)
c.91082C>T (p.Thr30361Ile)
c.90515C>T (p.Thr30172Ile)
c.87857C>T (p.Thr29286Ile)
c.87776C>T (p.Thr29259Ile)
c.69539C>T (p.Thr23180Ile)
c.59393C>T (p.Thr19798Ile)
 dbSNP gnomAD v4
2g.178543329G>CCA349446259TTN,TTN-AS1c.88940C>G (p.Thr29647Ser)
c.70025C>G (p.Thr23342Ser)
c.69824C>G (p.Thr23275Ser)
c.69449C>G (p.Thr23150Ser)
c.96644C>G (p.Thr32215Ser)
c.91721C>G (p.Thr30574Ser)
n.446+19693G>C
n.2043+968G>C
c.95741C>G (p.Thr31914Ser)
c.69635C>G (p.Thr23212Ser)
c.69494C>G (p.Thr23165Ser)
c.95537C>G (p.Thr31846Ser)
c.90935C>G (p.Thr30312Ser)
c.90932C>G (p.Thr30311Ser)
c.87974C>G (p.Thr29325Ser)
c.69590C>G (p.Thr23197Ser)
c.91085C>G (p.Thr30362Ser)
c.91082C>G (p.Thr30361Ser)
c.90515C>G (p.Thr30172Ser)
c.87857C>G (p.Thr29286Ser)
c.87776C>G (p.Thr29259Ser)
c.69539C>G (p.Thr23180Ser)
c.59393C>G (p.Thr19798Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543329G=CA1310520651TTN,TTN-AS1c.88940C= (p.Thr29647=)
c.70025C= (p.Thr23342=)
c.69824C= (p.Thr23275=)
c.69449C= (p.Thr23150=)
c.96644C= (p.Thr32215=)
c.91721C= (p.Thr30574=)
n.446+19693G=
n.2043+968G=
c.95741C= (p.Thr31914=)
c.69635C= (p.Thr23212=)
c.69494C= (p.Thr23165=)
c.95537C= (p.Thr31846=)
c.90935C= (p.Thr30312=)
c.90932C= (p.Thr30311=)
c.87974C= (p.Thr29325=)
c.69590C= (p.Thr23197=)
c.91085C= (p.Thr30362=)
c.91082C= (p.Thr30361=)
c.90515C= (p.Thr30172=)
c.87857C= (p.Thr29286=)
c.87776C= (p.Thr29259=)
c.69539C= (p.Thr23180=)
c.59393C= (p.Thr19798=)
2g.178543329G>TCA349446262TTN,TTN-AS1c.88940C>A (p.Thr29647Asn)
c.70025C>A (p.Thr23342Asn)
c.69824C>A (p.Thr23275Asn)
c.69449C>A (p.Thr23150Asn)
c.96644C>A (p.Thr32215Asn)
c.91721C>A (p.Thr30574Asn)
n.446+19693G>T
n.2043+968G>T
c.95741C>A (p.Thr31914Asn)
c.69635C>A (p.Thr23212Asn)
c.69494C>A (p.Thr23165Asn)
c.95537C>A (p.Thr31846Asn)
c.90935C>A (p.Thr30312Asn)
c.90932C>A (p.Thr30311Asn)
c.87974C>A (p.Thr29325Asn)
c.69590C>A (p.Thr23197Asn)
c.91085C>A (p.Thr30362Asn)
c.91082C>A (p.Thr30361Asn)
c.90515C>A (p.Thr30172Asn)
c.87857C>A (p.Thr29286Asn)
c.87776C>A (p.Thr29259Asn)
c.69539C>A (p.Thr23180Asn)
c.59393C>A (p.Thr19798Asn)
2g.178543330T>ACA349446264TTN,TTN-AS1c.88939A>T (p.Thr29647Ser)
c.70024A>T (p.Thr23342Ser)
c.69823A>T (p.Thr23275Ser)
c.69448A>T (p.Thr23150Ser)
c.96643A>T (p.Thr32215Ser)
c.91720A>T (p.Thr30574Ser)
n.446+19694T>A
n.2043+969T>A
c.95740A>T (p.Thr31914Ser)
c.69634A>T (p.Thr23212Ser)
c.69493A>T (p.Thr23165Ser)
c.95536A>T (p.Thr31846Ser)
c.90934A>T (p.Thr30312Ser)
c.90931A>T (p.Thr30311Ser)
c.87973A>T (p.Thr29325Ser)
c.69589A>T (p.Thr23197Ser)
c.91084A>T (p.Thr30362Ser)
c.91081A>T (p.Thr30361Ser)
c.90514A>T (p.Thr30172Ser)
c.87856A>T (p.Thr29286Ser)
c.87775A>T (p.Thr29259Ser)
c.69538A>T (p.Thr23180Ser)
c.59392A>T (p.Thr19798Ser)
2g.178543330T>CCA349446267TTN,TTN-AS1c.88939A>G (p.Thr29647Ala)
c.70024A>G (p.Thr23342Ala)
c.69823A>G (p.Thr23275Ala)
c.69448A>G (p.Thr23150Ala)
c.96643A>G (p.Thr32215Ala)
c.91720A>G (p.Thr30574Ala)
n.446+19694T>C
n.2043+969T>C
c.95740A>G (p.Thr31914Ala)
c.69634A>G (p.Thr23212Ala)
c.69493A>G (p.Thr23165Ala)
c.95536A>G (p.Thr31846Ala)
c.90934A>G (p.Thr30312Ala)
c.90931A>G (p.Thr30311Ala)
c.87973A>G (p.Thr29325Ala)
c.69589A>G (p.Thr23197Ala)
c.91084A>G (p.Thr30362Ala)
c.91081A>G (p.Thr30361Ala)
c.90514A>G (p.Thr30172Ala)
c.87856A>G (p.Thr29286Ala)
c.87775A>G (p.Thr29259Ala)
c.69538A>G (p.Thr23180Ala)
c.59392A>G (p.Thr19798Ala)
2g.178543330T>GCA349446269TTN,TTN-AS1c.88939A>C (p.Thr29647Pro)
c.70024A>C (p.Thr23342Pro)
c.69823A>C (p.Thr23275Pro)
c.69448A>C (p.Thr23150Pro)
c.96643A>C (p.Thr32215Pro)
c.91720A>C (p.Thr30574Pro)
n.446+19694T>G
n.2043+969T>G
c.95740A>C (p.Thr31914Pro)
c.69634A>C (p.Thr23212Pro)
c.69493A>C (p.Thr23165Pro)
c.95536A>C (p.Thr31846Pro)
c.90934A>C (p.Thr30312Pro)
c.90931A>C (p.Thr30311Pro)
c.87973A>C (p.Thr29325Pro)
c.69589A>C (p.Thr23197Pro)
c.91084A>C (p.Thr30362Pro)
c.91081A>C (p.Thr30361Pro)
c.90514A>C (p.Thr30172Pro)
c.87856A>C (p.Thr29286Pro)
c.87775A>C (p.Thr29259Pro)
c.69538A>C (p.Thr23180Pro)
c.59392A>C (p.Thr19798Pro)
2g.178543331G>ACA430241411TTN,TTN-AS1c.88938C>T (p.Val29646=)
c.70023C>T (p.Val23341=)
c.69822C>T (p.Val23274=)
c.69447C>T (p.Val23149=)
c.96642C>T (p.Val32214=)
c.91719C>T (p.Val30573=)
n.446+19695G>A
n.2043+970G>A
c.95739C>T (p.Val31913=)
c.69633C>T (p.Val23211=)
c.69492C>T (p.Val23164=)
c.95535C>T (p.Val31845=)
c.90933C>T (p.Val30311=)
c.90930C>T (p.Val30310=)
c.87972C>T (p.Val29324=)
c.69588C>T (p.Val23196=)
c.91083C>T (p.Val30361=)
c.91080C>T (p.Val30360=)
c.90513C>T (p.Val30171=)
c.87855C>T (p.Val29285=)
c.87774C>T (p.Val29258=)
c.69537C>T (p.Val23179=)
c.59391C>T (p.Val19797=)
2g.178543331G>CCA430241412TTN,TTN-AS1c.88938C>G (p.Val29646=)
c.70023C>G (p.Val23341=)
c.69822C>G (p.Val23274=)
c.69447C>G (p.Val23149=)
c.96642C>G (p.Val32214=)
c.91719C>G (p.Val30573=)
n.446+19695G>C
n.2043+970G>C
c.95739C>G (p.Val31913=)
c.69633C>G (p.Val23211=)
c.69492C>G (p.Val23164=)
c.95535C>G (p.Val31845=)
c.90933C>G (p.Val30311=)
c.90930C>G (p.Val30310=)
c.87972C>G (p.Val29324=)
c.69588C>G (p.Val23196=)
c.91083C>G (p.Val30361=)
c.91080C>G (p.Val30360=)
c.90513C>G (p.Val30171=)
c.87855C>G (p.Val29285=)
c.87774C>G (p.Val29258=)
c.69537C>G (p.Val23179=)
c.59391C>G (p.Val19797=)
 dbSNP gnomAD v2 gnomAD v4
2g.178543331G=CA1310520653TTN,TTN-AS1c.88938C= (p.Val29646=)
c.70023C= (p.Val23341=)
c.69822C= (p.Val23274=)
c.69447C= (p.Val23149=)
c.96642C= (p.Val32214=)
c.91719C= (p.Val30573=)
n.446+19695G=
n.2043+970G=
c.95739C= (p.Val31913=)
c.69633C= (p.Val23211=)
c.69492C= (p.Val23164=)
c.95535C= (p.Val31845=)
c.90933C= (p.Val30311=)
c.90930C= (p.Val30310=)
c.87972C= (p.Val29324=)
c.69588C= (p.Val23196=)
c.91083C= (p.Val30361=)
c.91080C= (p.Val30360=)
c.90513C= (p.Val30171=)
c.87855C= (p.Val29285=)
c.87774C= (p.Val29258=)
c.69537C= (p.Val23179=)
c.59391C= (p.Val19797=)
2g.178543331G>TCA430241413TTN,TTN-AS1c.88938C>A (p.Val29646=)
c.70023C>A (p.Val23341=)
c.69822C>A (p.Val23274=)
c.69447C>A (p.Val23149=)
c.96642C>A (p.Val32214=)
c.91719C>A (p.Val30573=)
n.446+19695G>T
n.2043+970G>T
c.95739C>A (p.Val31913=)
c.69633C>A (p.Val23211=)
c.69492C>A (p.Val23164=)
c.95535C>A (p.Val31845=)
c.90933C>A (p.Val30311=)
c.90930C>A (p.Val30310=)
c.87972C>A (p.Val29324=)
c.69588C>A (p.Val23196=)
c.91083C>A (p.Val30361=)
c.91080C>A (p.Val30360=)
c.90513C>A (p.Val30171=)
c.87855C>A (p.Val29285=)
c.87774C>A (p.Val29258=)
c.69537C>A (p.Val23179=)
c.59391C>A (p.Val19797=)
2g.178543332A>CCA349446270TTN,TTN-AS1c.88937T>G (p.Val29646Gly)
c.70022T>G (p.Val23341Gly)
c.69821T>G (p.Val23274Gly)
c.69446T>G (p.Val23149Gly)
c.96641T>G (p.Val32214Gly)
c.91718T>G (p.Val30573Gly)
n.446+19696A>C
n.2043+971A>C
c.95738T>G (p.Val31913Gly)
c.69632T>G (p.Val23211Gly)
c.69491T>G (p.Val23164Gly)
c.95534T>G (p.Val31845Gly)
c.90932T>G (p.Val30311Gly)
c.90929T>G (p.Val30310Gly)
c.87971T>G (p.Val29324Gly)
c.69587T>G (p.Val23196Gly)
c.91082T>G (p.Val30361Gly)
c.91079T>G (p.Val30360Gly)
c.90512T>G (p.Val30171Gly)
c.87854T>G (p.Val29285Gly)
c.87773T>G (p.Val29258Gly)
c.69536T>G (p.Val23179Gly)
c.59390T>G (p.Val19797Gly)
 gnomAD v4
2g.178543332A>GCA349446283TTN,TTN-AS1c.88937T>C (p.Val29646Ala)
c.70022T>C (p.Val23341Ala)
c.69821T>C (p.Val23274Ala)
c.69446T>C (p.Val23149Ala)
c.96641T>C (p.Val32214Ala)
c.91718T>C (p.Val30573Ala)
n.446+19696A>G
n.2043+971A>G
c.95738T>C (p.Val31913Ala)
c.69632T>C (p.Val23211Ala)
c.69491T>C (p.Val23164Ala)
c.95534T>C (p.Val31845Ala)
c.90932T>C (p.Val30311Ala)
c.90929T>C (p.Val30310Ala)
c.87971T>C (p.Val29324Ala)
c.69587T>C (p.Val23196Ala)
c.91082T>C (p.Val30361Ala)
c.91079T>C (p.Val30360Ala)
c.90512T>C (p.Val30171Ala)
c.87854T>C (p.Val29285Ala)
c.87773T>C (p.Val29258Ala)
c.69536T>C (p.Val23179Ala)
c.59390T>C (p.Val19797Ala)
2g.178543332A>TCA349446284TTN,TTN-AS1c.88937T>A (p.Val29646Asp)
c.70022T>A (p.Val23341Asp)
c.69821T>A (p.Val23274Asp)
c.69446T>A (p.Val23149Asp)
c.96641T>A (p.Val32214Asp)
c.91718T>A (p.Val30573Asp)
n.446+19696A>T
n.2043+971A>T
c.95738T>A (p.Val31913Asp)
c.69632T>A (p.Val23211Asp)
c.69491T>A (p.Val23164Asp)
c.95534T>A (p.Val31845Asp)
c.90932T>A (p.Val30311Asp)
c.90929T>A (p.Val30310Asp)
c.87971T>A (p.Val29324Asp)
c.69587T>A (p.Val23196Asp)
c.91082T>A (p.Val30361Asp)
c.91079T>A (p.Val30360Asp)
c.90512T>A (p.Val30171Asp)
c.87854T>A (p.Val29285Asp)
c.87773T>A (p.Val29258Asp)
c.69536T>A (p.Val23179Asp)
c.59390T>A (p.Val19797Asp)
2g.178543333C>ACA349446287TTN,TTN-AS1c.88936G>T (p.Val29646Phe)
c.70021G>T (p.Val23341Phe)
c.69820G>T (p.Val23274Phe)
c.69445G>T (p.Val23149Phe)
c.96640G>T (p.Val32214Phe)
c.91717G>T (p.Val30573Phe)
n.446+19697C>A
n.2043+972C>A
c.95737G>T (p.Val31913Phe)
c.69631G>T (p.Val23211Phe)
c.69490G>T (p.Val23164Phe)
c.95533G>T (p.Val31845Phe)
c.90931G>T (p.Val30311Phe)
c.90928G>T (p.Val30310Phe)
c.87970G>T (p.Val29324Phe)
c.69586G>T (p.Val23196Phe)
c.91081G>T (p.Val30361Phe)
c.91078G>T (p.Val30360Phe)
c.90511G>T (p.Val30171Phe)
c.87853G>T (p.Val29285Phe)
c.87772G>T (p.Val29258Phe)
c.69535G>T (p.Val23179Phe)
c.59389G>T (p.Val19797Phe)
2g.178543333C=CA1310520654TTN,TTN-AS1c.88936G= (p.Val29646=)
c.70021G= (p.Val23341=)
c.69820G= (p.Val23274=)
c.69445G= (p.Val23149=)
c.96640G= (p.Val32214=)
c.91717G= (p.Val30573=)
n.446+19697C=
n.2043+972C=
c.95737G= (p.Val31913=)
c.69631G= (p.Val23211=)
c.69490G= (p.Val23164=)
c.95533G= (p.Val31845=)
c.90931G= (p.Val30311=)
c.90928G= (p.Val30310=)
c.87970G= (p.Val29324=)
c.69586G= (p.Val23196=)
c.91081G= (p.Val30361=)
c.91078G= (p.Val30360=)
c.90511G= (p.Val30171=)
c.87853G= (p.Val29285=)
c.87772G= (p.Val29258=)
c.69535G= (p.Val23179=)
c.59389G= (p.Val19797=)
2g.178543333C>GCA349446303TTN,TTN-AS1c.88936G>C (p.Val29646Leu)
c.70021G>C (p.Val23341Leu)
c.69820G>C (p.Val23274Leu)
c.69445G>C (p.Val23149Leu)
c.96640G>C (p.Val32214Leu)
c.91717G>C (p.Val30573Leu)
n.446+19697C>G
n.2043+972C>G
c.95737G>C (p.Val31913Leu)
c.69631G>C (p.Val23211Leu)
c.69490G>C (p.Val23164Leu)
c.95533G>C (p.Val31845Leu)
c.90931G>C (p.Val30311Leu)
c.90928G>C (p.Val30310Leu)
c.87970G>C (p.Val29324Leu)
c.69586G>C (p.Val23196Leu)
c.91081G>C (p.Val30361Leu)
c.91078G>C (p.Val30360Leu)
c.90511G>C (p.Val30171Leu)
c.87853G>C (p.Val29285Leu)
c.87772G>C (p.Val29258Leu)
c.69535G>C (p.Val23179Leu)
c.59389G>C (p.Val19797Leu)
2g.178543333C>TCA349446290TTN,TTN-AS1c.88936G>A (p.Val29646Ile)
c.70021G>A (p.Val23341Ile)
c.69820G>A (p.Val23274Ile)
c.69445G>A (p.Val23149Ile)
c.96640G>A (p.Val32214Ile)
c.91717G>A (p.Val30573Ile)
n.446+19697C>T
n.2043+972C>T
c.95737G>A (p.Val31913Ile)
c.69631G>A (p.Val23211Ile)
c.69490G>A (p.Val23164Ile)
c.95533G>A (p.Val31845Ile)
c.90931G>A (p.Val30311Ile)
c.90928G>A (p.Val30310Ile)
c.87970G>A (p.Val29324Ile)
c.69586G>A (p.Val23196Ile)
c.91081G>A (p.Val30361Ile)
c.91078G>A (p.Val30360Ile)
c.90511G>A (p.Val30171Ile)
c.87853G>A (p.Val29285Ile)
c.87772G>A (p.Val29258Ile)
c.69535G>A (p.Val23179Ile)
c.59389G>A (p.Val19797Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178543334A=CA1310520655TTN,TTN-AS1c.88935T= (p.Asp29645=)
c.70020T= (p.Asp23340=)
c.69819T= (p.Asp23273=)
c.69444T= (p.Asp23148=)
c.96639T= (p.Asp32213=)
c.91716T= (p.Asp30572=)
n.446+19698A=
n.2043+973A=
c.95736T= (p.Asp31912=)
c.69630T= (p.Asp23210=)
c.69489T= (p.Asp23163=)
c.95532T= (p.Asp31844=)
c.90930T= (p.Asp30310=)
c.90927T= (p.Asp30309=)
c.87969T= (p.Asp29323=)
c.69585T= (p.Asp23195=)
c.91080T= (p.Asp30360=)
c.91077T= (p.Asp30359=)
c.90510T= (p.Asp30170=)
c.87852T= (p.Asp29284=)
c.87771T= (p.Asp29257=)
c.69534T= (p.Asp23178=)
c.59388T= (p.Asp19796=)
2g.178543334A>CCA349446306TTN,TTN-AS1c.88935T>G (p.Asp29645Glu)
c.70020T>G (p.Asp23340Glu)
c.69819T>G (p.Asp23273Glu)
c.69444T>G (p.Asp23148Glu)
c.96639T>G (p.Asp32213Glu)
c.91716T>G (p.Asp30572Glu)
n.446+19698A>C
n.2043+973A>C
c.95736T>G (p.Asp31912Glu)
c.69630T>G (p.Asp23210Glu)
c.69489T>G (p.Asp23163Glu)
c.95532T>G (p.Asp31844Glu)
c.90930T>G (p.Asp30310Glu)
c.90927T>G (p.Asp30309Glu)
c.87969T>G (p.Asp29323Glu)
c.69585T>G (p.Asp23195Glu)
c.91080T>G (p.Asp30360Glu)
c.91077T>G (p.Asp30359Glu)
c.90510T>G (p.Asp30170Glu)
c.87852T>G (p.Asp29284Glu)
c.87771T>G (p.Asp29257Glu)
c.69534T>G (p.Asp23178Glu)
c.59388T>G (p.Asp19796Glu)
2g.178543334A>GCA430241420TTN,TTN-AS1c.88935T>C (p.Asp29645=)
c.70020T>C (p.Asp23340=)
c.69819T>C (p.Asp23273=)
c.69444T>C (p.Asp23148=)
c.96639T>C (p.Asp32213=)
c.91716T>C (p.Asp30572=)
n.446+19698A>G
n.2043+973A>G
c.95736T>C (p.Asp31912=)
c.69630T>C (p.Asp23210=)
c.69489T>C (p.Asp23163=)
c.95532T>C (p.Asp31844=)
c.90930T>C (p.Asp30310=)
c.90927T>C (p.Asp30309=)
c.87969T>C (p.Asp29323=)
c.69585T>C (p.Asp23195=)
c.91080T>C (p.Asp30360=)
c.91077T>C (p.Asp30359=)
c.90510T>C (p.Asp30170=)
c.87852T>C (p.Asp29284=)
c.87771T>C (p.Asp29257=)
c.69534T>C (p.Asp23178=)
c.59388T>C (p.Asp19796=)
 dbSNP gnomAD v4
2g.178543334A>TCA349446307TTN,TTN-AS1c.88935T>A (p.Asp29645Glu)
c.70020T>A (p.Asp23340Glu)
c.69819T>A (p.Asp23273Glu)
c.69444T>A (p.Asp23148Glu)
c.96639T>A (p.Asp32213Glu)
c.91716T>A (p.Asp30572Glu)
n.446+19698A>T
n.2043+973A>T
c.95736T>A (p.Asp31912Glu)
c.69630T>A (p.Asp23210Glu)
c.69489T>A (p.Asp23163Glu)
c.95532T>A (p.Asp31844Glu)
c.90930T>A (p.Asp30310Glu)
c.90927T>A (p.Asp30309Glu)
c.87969T>A (p.Asp29323Glu)
c.69585T>A (p.Asp23195Glu)
c.91080T>A (p.Asp30360Glu)
c.91077T>A (p.Asp30359Glu)
c.90510T>A (p.Asp30170Glu)
c.87852T>A (p.Asp29284Glu)
c.87771T>A (p.Asp29257Glu)
c.69534T>A (p.Asp23178Glu)
c.59388T>A (p.Asp19796Glu)
2g.178543335T>ACA349446308TTN,TTN-AS1c.88934A>T (p.Asp29645Val)
c.70019A>T (p.Asp23340Val)
c.69818A>T (p.Asp23273Val)
c.69443A>T (p.Asp23148Val)
c.96638A>T (p.Asp32213Val)
c.91715A>T (p.Asp30572Val)
n.446+19699T>A
n.2043+974T>A
c.95735A>T (p.Asp31912Val)
c.69629A>T (p.Asp23210Val)
c.69488A>T (p.Asp23163Val)
c.95531A>T (p.Asp31844Val)
c.90929A>T (p.Asp30310Val)
c.90926A>T (p.Asp30309Val)
c.87968A>T (p.Asp29323Val)
c.69584A>T (p.Asp23195Val)
c.91079A>T (p.Asp30360Val)
c.91076A>T (p.Asp30359Val)
c.90509A>T (p.Asp30170Val)
c.87851A>T (p.Asp29284Val)
c.87770A>T (p.Asp29257Val)
c.69533A>T (p.Asp23178Val)
c.59387A>T (p.Asp19796Val)
2g.178543335T>CCA349446309TTN,TTN-AS1c.88934A>G (p.Asp29645Gly)
c.70019A>G (p.Asp23340Gly)
c.69818A>G (p.Asp23273Gly)
c.69443A>G (p.Asp23148Gly)
c.96638A>G (p.Asp32213Gly)
c.91715A>G (p.Asp30572Gly)
n.446+19699T>C
n.2043+974T>C
c.95735A>G (p.Asp31912Gly)
c.69629A>G (p.Asp23210Gly)
c.69488A>G (p.Asp23163Gly)
c.95531A>G (p.Asp31844Gly)
c.90929A>G (p.Asp30310Gly)
c.90926A>G (p.Asp30309Gly)
c.87968A>G (p.Asp29323Gly)
c.69584A>G (p.Asp23195Gly)
c.91079A>G (p.Asp30360Gly)
c.91076A>G (p.Asp30359Gly)
c.90509A>G (p.Asp30170Gly)
c.87851A>G (p.Asp29284Gly)
c.87770A>G (p.Asp29257Gly)
c.69533A>G (p.Asp23178Gly)
c.59387A>G (p.Asp19796Gly)
2g.178543335T>GCA349446310TTN,TTN-AS1c.88934A>C (p.Asp29645Ala)
c.70019A>C (p.Asp23340Ala)
c.69818A>C (p.Asp23273Ala)
c.69443A>C (p.Asp23148Ala)
c.96638A>C (p.Asp32213Ala)
c.91715A>C (p.Asp30572Ala)
n.446+19699T>G
n.2043+974T>G
c.95735A>C (p.Asp31912Ala)
c.69629A>C (p.Asp23210Ala)
c.69488A>C (p.Asp23163Ala)
c.95531A>C (p.Asp31844Ala)
c.90929A>C (p.Asp30310Ala)
c.90926A>C (p.Asp30309Ala)
c.87968A>C (p.Asp29323Ala)
c.69584A>C (p.Asp23195Ala)
c.91079A>C (p.Asp30360Ala)
c.91076A>C (p.Asp30359Ala)
c.90509A>C (p.Asp30170Ala)
c.87851A>C (p.Asp29284Ala)
c.87770A>C (p.Asp29257Ala)
c.69533A>C (p.Asp23178Ala)
c.59387A>C (p.Asp19796Ala)
2g.178543336C>ACA349446311TTN,TTN-AS1c.88933G>T (p.Asp29645Tyr)
c.70018G>T (p.Asp23340Tyr)
c.69817G>T (p.Asp23273Tyr)
c.69442G>T (p.Asp23148Tyr)
c.96637G>T (p.Asp32213Tyr)
c.91714G>T (p.Asp30572Tyr)
n.446+19700C>A
n.2043+975C>A
c.95734G>T (p.Asp31912Tyr)
c.69628G>T (p.Asp23210Tyr)
c.69487G>T (p.Asp23163Tyr)
c.95530G>T (p.Asp31844Tyr)
c.90928G>T (p.Asp30310Tyr)
c.90925G>T (p.Asp30309Tyr)
c.87967G>T (p.Asp29323Tyr)
c.69583G>T (p.Asp23195Tyr)
c.91078G>T (p.Asp30360Tyr)
c.91075G>T (p.Asp30359Tyr)
c.90508G>T (p.Asp30170Tyr)
c.87850G>T (p.Asp29284Tyr)
c.87769G>T (p.Asp29257Tyr)
c.69532G>T (p.Asp23178Tyr)
c.59386G>T (p.Asp19796Tyr)
2g.178543336C=CA1310520657TTN,TTN-AS1c.88933G= (p.Asp29645=)
c.70018G= (p.Asp23340=)
c.69817G= (p.Asp23273=)
c.69442G= (p.Asp23148=)
c.96637G= (p.Asp32213=)
c.91714G= (p.Asp30572=)
n.446+19700C=
n.2043+975C=
c.95734G= (p.Asp31912=)
c.69628G= (p.Asp23210=)
c.69487G= (p.Asp23163=)
c.95530G= (p.Asp31844=)
c.90928G= (p.Asp30310=)
c.90925G= (p.Asp30309=)
c.87967G= (p.Asp29323=)
c.69583G= (p.Asp23195=)
c.91078G= (p.Asp30360=)
c.91075G= (p.Asp30359=)
c.90508G= (p.Asp30170=)
c.87850G= (p.Asp29284=)
c.87769G= (p.Asp29257=)
c.69532G= (p.Asp23178=)
c.59386G= (p.Asp19796=)
2g.178543336C>GCA349446313TTN,TTN-AS1c.88933G>C (p.Asp29645His)
c.70018G>C (p.Asp23340His)
c.69817G>C (p.Asp23273His)
c.69442G>C (p.Asp23148His)
c.96637G>C (p.Asp32213His)
c.91714G>C (p.Asp30572His)
n.446+19700C>G
n.2043+975C>G
c.95734G>C (p.Asp31912His)
c.69628G>C (p.Asp23210His)
c.69487G>C (p.Asp23163His)
c.95530G>C (p.Asp31844His)
c.90928G>C (p.Asp30310His)
c.90925G>C (p.Asp30309His)
c.87967G>C (p.Asp29323His)
c.69583G>C (p.Asp23195His)
c.91078G>C (p.Asp30360His)
c.91075G>C (p.Asp30359His)
c.90508G>C (p.Asp30170His)
c.87850G>C (p.Asp29284His)
c.87769G>C (p.Asp29257His)
c.69532G>C (p.Asp23178His)
c.59386G>C (p.Asp19796His)
2g.178543336C>TCA311010TTN,TTN-AS1c.88933G>A (p.Asp29645Asn)
c.70018G>A (p.Asp23340Asn)
c.69817G>A (p.Asp23273Asn)
c.69442G>A (p.Asp23148Asn)
c.96637G>A (p.Asp32213Asn)
c.91714G>A (p.Asp30572Asn)
n.446+19700C>T
n.2043+975C>T
c.95734G>A (p.Asp31912Asn)
c.69628G>A (p.Asp23210Asn)
c.69487G>A (p.Asp23163Asn)
c.95530G>A (p.Asp31844Asn)
c.90928G>A (p.Asp30310Asn)
c.90925G>A (p.Asp30309Asn)
c.87967G>A (p.Asp29323Asn)
c.69583G>A (p.Asp23195Asn)
c.91078G>A (p.Asp30360Asn)
c.91075G>A (p.Asp30359Asn)
c.90508G>A (p.Asp30170Asn)
c.87850G>A (p.Asp29284Asn)
c.87769G>A (p.Asp29257Asn)
c.69532G>A (p.Asp23178Asn)
c.59386G>A (p.Asp19796Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543337G>ACA1986731TTN,TTN-AS1c.88932C>T (p.Val29644=)
c.70017C>T (p.Val23339=)
c.69816C>T (p.Val23272=)
c.69441C>T (p.Val23147=)
c.96636C>T (p.Val32212=)
c.91713C>T (p.Val30571=)
n.446+19701G>A
n.2043+976G>A
c.95733C>T (p.Val31911=)
c.69627C>T (p.Val23209=)
c.69486C>T (p.Val23162=)
c.95529C>T (p.Val31843=)
c.90927C>T (p.Val30309=)
c.90924C>T (p.Val30308=)
c.87966C>T (p.Val29322=)
c.69582C>T (p.Val23194=)
c.91077C>T (p.Val30359=)
c.91074C>T (p.Val30358=)
c.90507C>T (p.Val30169=)
c.87849C>T (p.Val29283=)
c.87768C>T (p.Val29256=)
c.69531C>T (p.Val23177=)
c.59385C>T (p.Val19795=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543337G>CCA430241425TTN,TTN-AS1c.88932C>G (p.Val29644=)
c.70017C>G (p.Val23339=)
c.69816C>G (p.Val23272=)
c.69441C>G (p.Val23147=)
c.96636C>G (p.Val32212=)
c.91713C>G (p.Val30571=)
n.446+19701G>C
n.2043+976G>C
c.95733C>G (p.Val31911=)
c.69627C>G (p.Val23209=)
c.69486C>G (p.Val23162=)
c.95529C>G (p.Val31843=)
c.90927C>G (p.Val30309=)
c.90924C>G (p.Val30308=)
c.87966C>G (p.Val29322=)
c.69582C>G (p.Val23194=)
c.91077C>G (p.Val30359=)
c.91074C>G (p.Val30358=)
c.90507C>G (p.Val30169=)
c.87849C>G (p.Val29283=)
c.87768C>G (p.Val29256=)
c.69531C>G (p.Val23177=)
c.59385C>G (p.Val19795=)
2g.178543337G=CA1310520659TTN,TTN-AS1c.88932C= (p.Val29644=)
c.70017C= (p.Val23339=)
c.69816C= (p.Val23272=)
c.69441C= (p.Val23147=)
c.96636C= (p.Val32212=)
c.91713C= (p.Val30571=)
n.446+19701G=
n.2043+976G=
c.95733C= (p.Val31911=)
c.69627C= (p.Val23209=)
c.69486C= (p.Val23162=)
c.95529C= (p.Val31843=)
c.90927C= (p.Val30309=)
c.90924C= (p.Val30308=)
c.87966C= (p.Val29322=)
c.69582C= (p.Val23194=)
c.91077C= (p.Val30359=)
c.91074C= (p.Val30358=)
c.90507C= (p.Val30169=)
c.87849C= (p.Val29283=)
c.87768C= (p.Val29256=)
c.69531C= (p.Val23177=)
c.59385C= (p.Val19795=)
2g.178543337G>TCA430241429TTN,TTN-AS1c.88932C>A (p.Val29644=)
c.70017C>A (p.Val23339=)
c.69816C>A (p.Val23272=)
c.69441C>A (p.Val23147=)
c.96636C>A (p.Val32212=)
c.91713C>A (p.Val30571=)
n.446+19701G>T
n.2043+976G>T
c.95733C>A (p.Val31911=)
c.69627C>A (p.Val23209=)
c.69486C>A (p.Val23162=)
c.95529C>A (p.Val31843=)
c.90927C>A (p.Val30309=)
c.90924C>A (p.Val30308=)
c.87966C>A (p.Val29322=)
c.69582C>A (p.Val23194=)
c.91077C>A (p.Val30359=)
c.91074C>A (p.Val30358=)
c.90507C>A (p.Val30169=)
c.87849C>A (p.Val29283=)
c.87768C>A (p.Val29256=)
c.69531C>A (p.Val23177=)
c.59385C>A (p.Val19795=)
2g.178543338A>CCA349446320TTN,TTN-AS1c.88931T>G (p.Val29644Gly)
c.70016T>G (p.Val23339Gly)
c.69815T>G (p.Val23272Gly)
c.69440T>G (p.Val23147Gly)
c.96635T>G (p.Val32212Gly)
c.91712T>G (p.Val30571Gly)
n.446+19702A>C
n.2043+977A>C
c.95732T>G (p.Val31911Gly)
c.69626T>G (p.Val23209Gly)
c.69485T>G (p.Val23162Gly)
c.95528T>G (p.Val31843Gly)
c.90926T>G (p.Val30309Gly)
c.90923T>G (p.Val30308Gly)
c.87965T>G (p.Val29322Gly)
c.69581T>G (p.Val23194Gly)
c.91076T>G (p.Val30359Gly)
c.91073T>G (p.Val30358Gly)
c.90506T>G (p.Val30169Gly)
c.87848T>G (p.Val29283Gly)
c.87767T>G (p.Val29256Gly)
c.69530T>G (p.Val23177Gly)
c.59384T>G (p.Val19795Gly)
2g.178543338A>GCA349446322TTN,TTN-AS1c.88931T>C (p.Val29644Ala)
c.70016T>C (p.Val23339Ala)
c.69815T>C (p.Val23272Ala)
c.69440T>C (p.Val23147Ala)
c.96635T>C (p.Val32212Ala)
c.91712T>C (p.Val30571Ala)
n.446+19702A>G
n.2043+977A>G
c.95732T>C (p.Val31911Ala)
c.69626T>C (p.Val23209Ala)
c.69485T>C (p.Val23162Ala)
c.95528T>C (p.Val31843Ala)
c.90926T>C (p.Val30309Ala)
c.90923T>C (p.Val30308Ala)
c.87965T>C (p.Val29322Ala)
c.69581T>C (p.Val23194Ala)
c.91076T>C (p.Val30359Ala)
c.91073T>C (p.Val30358Ala)
c.90506T>C (p.Val30169Ala)
c.87848T>C (p.Val29283Ala)
c.87767T>C (p.Val29256Ala)
c.69530T>C (p.Val23177Ala)
c.59384T>C (p.Val19795Ala)
2g.178543338A>TCA349446319TTN,TTN-AS1c.88931T>A (p.Val29644Asp)
c.70016T>A (p.Val23339Asp)
c.69815T>A (p.Val23272Asp)
c.69440T>A (p.Val23147Asp)
c.96635T>A (p.Val32212Asp)
c.91712T>A (p.Val30571Asp)
n.446+19702A>T
n.2043+977A>T
c.95732T>A (p.Val31911Asp)
c.69626T>A (p.Val23209Asp)
c.69485T>A (p.Val23162Asp)
c.95528T>A (p.Val31843Asp)
c.90926T>A (p.Val30309Asp)
c.90923T>A (p.Val30308Asp)
c.87965T>A (p.Val29322Asp)
c.69581T>A (p.Val23194Asp)
c.91076T>A (p.Val30359Asp)
c.91073T>A (p.Val30358Asp)
c.90506T>A (p.Val30169Asp)
c.87848T>A (p.Val29283Asp)
c.87767T>A (p.Val29256Asp)
c.69530T>A (p.Val23177Asp)
c.59384T>A (p.Val19795Asp)
2g.178543339C>ACA349446325TTN,TTN-AS1c.88930G>T (p.Val29644Phe)
c.70015G>T (p.Val23339Phe)
c.69814G>T (p.Val23272Phe)
c.69439G>T (p.Val23147Phe)
c.96634G>T (p.Val32212Phe)
c.91711G>T (p.Val30571Phe)
n.446+19703C>A
n.2043+978C>A
c.95731G>T (p.Val31911Phe)
c.69625G>T (p.Val23209Phe)
c.69484G>T (p.Val23162Phe)
c.95527G>T (p.Val31843Phe)
c.90925G>T (p.Val30309Phe)
c.90922G>T (p.Val30308Phe)
c.87964G>T (p.Val29322Phe)
c.69580G>T (p.Val23194Phe)
c.91075G>T (p.Val30359Phe)
c.91072G>T (p.Val30358Phe)
c.90505G>T (p.Val30169Phe)
c.87847G>T (p.Val29283Phe)
c.87766G>T (p.Val29256Phe)
c.69529G>T (p.Val23177Phe)
c.59383G>T (p.Val19795Phe)
2g.178543339C>GCA349446337TTN,TTN-AS1c.88930G>C (p.Val29644Leu)
c.70015G>C (p.Val23339Leu)
c.69814G>C (p.Val23272Leu)
c.69439G>C (p.Val23147Leu)
c.96634G>C (p.Val32212Leu)
c.91711G>C (p.Val30571Leu)
n.446+19703C>G
n.2043+978C>G
c.95731G>C (p.Val31911Leu)
c.69625G>C (p.Val23209Leu)
c.69484G>C (p.Val23162Leu)
c.95527G>C (p.Val31843Leu)
c.90925G>C (p.Val30309Leu)
c.90922G>C (p.Val30308Leu)
c.87964G>C (p.Val29322Leu)
c.69580G>C (p.Val23194Leu)
c.91075G>C (p.Val30359Leu)
c.91072G>C (p.Val30358Leu)
c.90505G>C (p.Val30169Leu)
c.87847G>C (p.Val29283Leu)
c.87766G>C (p.Val29256Leu)
c.69529G>C (p.Val23177Leu)
c.59383G>C (p.Val19795Leu)
2g.178543339C>TCA349446339TTN,TTN-AS1c.88930G>A (p.Val29644Ile)
c.70015G>A (p.Val23339Ile)
c.69814G>A (p.Val23272Ile)
c.69439G>A (p.Val23147Ile)
c.96634G>A (p.Val32212Ile)
c.91711G>A (p.Val30571Ile)
n.446+19703C>T
n.2043+978C>T
c.95731G>A (p.Val31911Ile)
c.69625G>A (p.Val23209Ile)
c.69484G>A (p.Val23162Ile)
c.95527G>A (p.Val31843Ile)
c.90925G>A (p.Val30309Ile)
c.90922G>A (p.Val30308Ile)
c.87964G>A (p.Val29322Ile)
c.69580G>A (p.Val23194Ile)
c.91075G>A (p.Val30359Ile)
c.91072G>A (p.Val30358Ile)
c.90505G>A (p.Val30169Ile)
c.87847G>A (p.Val29283Ile)
c.87766G>A (p.Val29256Ile)
c.69529G>A (p.Val23177Ile)
c.59383G>A (p.Val19795Ile)
2g.178543340C>ACA430241433TTN,TTN-AS1c.88929G>T (p.Val29643=)
c.70014G>T (p.Val23338=)
c.69813G>T (p.Val23271=)
c.69438G>T (p.Val23146=)
c.96633G>T (p.Val32211=)
c.91710G>T (p.Val30570=)
n.446+19704C>A
n.2043+979C>A
c.95730G>T (p.Val31910=)
c.69624G>T (p.Val23208=)
c.69483G>T (p.Val23161=)
c.95526G>T (p.Val31842=)
c.90924G>T (p.Val30308=)
c.90921G>T (p.Val30307=)
c.87963G>T (p.Val29321=)
c.69579G>T (p.Val23193=)
c.91074G>T (p.Val30358=)
c.91071G>T (p.Val30357=)
c.90504G>T (p.Val30168=)
c.87846G>T (p.Val29282=)
c.87765G>T (p.Val29255=)
c.69528G>T (p.Val23176=)
c.59382G>T (p.Val19794=)
2g.178543340C>GCA430241435TTN,TTN-AS1c.88929G>C (p.Val29643=)
c.70014G>C (p.Val23338=)
c.69813G>C (p.Val23271=)
c.69438G>C (p.Val23146=)
c.96633G>C (p.Val32211=)
c.91710G>C (p.Val30570=)
n.446+19704C>G
n.2043+979C>G
c.95730G>C (p.Val31910=)
c.69624G>C (p.Val23208=)
c.69483G>C (p.Val23161=)
c.95526G>C (p.Val31842=)
c.90924G>C (p.Val30308=)
c.90921G>C (p.Val30307=)
c.87963G>C (p.Val29321=)
c.69579G>C (p.Val23193=)
c.91074G>C (p.Val30358=)
c.91071G>C (p.Val30357=)
c.90504G>C (p.Val30168=)
c.87846G>C (p.Val29282=)
c.87765G>C (p.Val29255=)
c.69528G>C (p.Val23176=)
c.59382G>C (p.Val19794=)
 gnomAD v4
2g.178543340C>TCA430241437TTN,TTN-AS1c.88929G>A (p.Val29643=)
c.70014G>A (p.Val23338=)
c.69813G>A (p.Val23271=)
c.69438G>A (p.Val23146=)
c.96633G>A (p.Val32211=)
c.91710G>A (p.Val30570=)
n.446+19704C>T
n.2043+979C>T
c.95730G>A (p.Val31910=)
c.69624G>A (p.Val23208=)
c.69483G>A (p.Val23161=)
c.95526G>A (p.Val31842=)
c.90924G>A (p.Val30308=)
c.90921G>A (p.Val30307=)
c.87963G>A (p.Val29321=)
c.69579G>A (p.Val23193=)
c.91074G>A (p.Val30358=)
c.91071G>A (p.Val30357=)
c.90504G>A (p.Val30168=)
c.87846G>A (p.Val29282=)
c.87765G>A (p.Val29255=)
c.69528G>A (p.Val23176=)
c.59382G>A (p.Val19794=)
2g.178543341A>CCA349446341TTN,TTN-AS1c.88928T>G (p.Val29643Gly)
c.70013T>G (p.Val23338Gly)
c.69812T>G (p.Val23271Gly)
c.69437T>G (p.Val23146Gly)
c.96632T>G (p.Val32211Gly)
c.91709T>G (p.Val30570Gly)
n.446+19705A>C
n.2043+980A>C
c.95729T>G (p.Val31910Gly)
c.69623T>G (p.Val23208Gly)
c.69482T>G (p.Val23161Gly)
c.95525T>G (p.Val31842Gly)
c.90923T>G (p.Val30308Gly)
c.90920T>G (p.Val30307Gly)
c.87962T>G (p.Val29321Gly)
c.69578T>G (p.Val23193Gly)
c.91073T>G (p.Val30358Gly)
c.91070T>G (p.Val30357Gly)
c.90503T>G (p.Val30168Gly)
c.87845T>G (p.Val29282Gly)
c.87764T>G (p.Val29255Gly)
c.69527T>G (p.Val23176Gly)
c.59381T>G (p.Val19794Gly)
2g.178543341A>GCA349446344TTN,TTN-AS1c.88928T>C (p.Val29643Ala)
c.70013T>C (p.Val23338Ala)
c.69812T>C (p.Val23271Ala)
c.69437T>C (p.Val23146Ala)
c.96632T>C (p.Val32211Ala)
c.91709T>C (p.Val30570Ala)
n.446+19705A>G
n.2043+980A>G
c.95729T>C (p.Val31910Ala)
c.69623T>C (p.Val23208Ala)
c.69482T>C (p.Val23161Ala)
c.95525T>C (p.Val31842Ala)
c.90923T>C (p.Val30308Ala)
c.90920T>C (p.Val30307Ala)
c.87962T>C (p.Val29321Ala)
c.69578T>C (p.Val23193Ala)
c.91073T>C (p.Val30358Ala)
c.91070T>C (p.Val30357Ala)
c.90503T>C (p.Val30168Ala)
c.87845T>C (p.Val29282Ala)
c.87764T>C (p.Val29255Ala)
c.69527T>C (p.Val23176Ala)
c.59381T>C (p.Val19794Ala)
2g.178543341A>TCA349446347TTN,TTN-AS1c.88928T>A (p.Val29643Glu)
c.70013T>A (p.Val23338Glu)
c.69812T>A (p.Val23271Glu)
c.69437T>A (p.Val23146Glu)
c.96632T>A (p.Val32211Glu)
c.91709T>A (p.Val30570Glu)
n.446+19705A>T
n.2043+980A>T
c.95729T>A (p.Val31910Glu)
c.69623T>A (p.Val23208Glu)
c.69482T>A (p.Val23161Glu)
c.95525T>A (p.Val31842Glu)
c.90923T>A (p.Val30308Glu)
c.90920T>A (p.Val30307Glu)
c.87962T>A (p.Val29321Glu)
c.69578T>A (p.Val23193Glu)
c.91073T>A (p.Val30358Glu)
c.91070T>A (p.Val30357Glu)
c.90503T>A (p.Val30168Glu)
c.87845T>A (p.Val29282Glu)
c.87764T>A (p.Val29255Glu)
c.69527T>A (p.Val23176Glu)
c.59381T>A (p.Val19794Glu)
2g.178543342C>ACA349446348TTN,TTN-AS1c.88927G>T (p.Val29643Leu)
c.70012G>T (p.Val23338Leu)
c.69811G>T (p.Val23271Leu)
c.69436G>T (p.Val23146Leu)
c.96631G>T (p.Val32211Leu)
c.91708G>T (p.Val30570Leu)
n.446+19706C>A
n.2043+981C>A
c.95728G>T (p.Val31910Leu)
c.69622G>T (p.Val23208Leu)
c.69481G>T (p.Val23161Leu)
c.95524G>T (p.Val31842Leu)
c.90922G>T (p.Val30308Leu)
c.90919G>T (p.Val30307Leu)
c.87961G>T (p.Val29321Leu)
c.69577G>T (p.Val23193Leu)
c.91072G>T (p.Val30358Leu)
c.91069G>T (p.Val30357Leu)
c.90502G>T (p.Val30168Leu)
c.87844G>T (p.Val29282Leu)
c.87763G>T (p.Val29255Leu)
c.69526G>T (p.Val23176Leu)
c.59380G>T (p.Val19794Leu)
2g.178543342C=CA1310520661TTN,TTN-AS1c.88927G= (p.Val29643=)
c.70012G= (p.Val23338=)
c.69811G= (p.Val23271=)
c.69436G= (p.Val23146=)
c.96631G= (p.Val32211=)
c.91708G= (p.Val30570=)
n.446+19706C=
n.2043+981C=
c.95728G= (p.Val31910=)
c.69622G= (p.Val23208=)
c.69481G= (p.Val23161=)
c.95524G= (p.Val31842=)
c.90922G= (p.Val30308=)
c.90919G= (p.Val30307=)
c.87961G= (p.Val29321=)
c.69577G= (p.Val23193=)
c.91072G= (p.Val30358=)
c.91069G= (p.Val30357=)
c.90502G= (p.Val30168=)
c.87844G= (p.Val29282=)
c.87763G= (p.Val29255=)
c.69526G= (p.Val23176=)
c.59380G= (p.Val19794=)
2g.178543342C>GCA349446350TTN,TTN-AS1c.88927G>C (p.Val29643Leu)
c.70012G>C (p.Val23338Leu)
c.69811G>C (p.Val23271Leu)
c.69436G>C (p.Val23146Leu)
c.96631G>C (p.Val32211Leu)
c.91708G>C (p.Val30570Leu)
n.446+19706C>G
n.2043+981C>G
c.95728G>C (p.Val31910Leu)
c.69622G>C (p.Val23208Leu)
c.69481G>C (p.Val23161Leu)
c.95524G>C (p.Val31842Leu)
c.90922G>C (p.Val30308Leu)
c.90919G>C (p.Val30307Leu)
c.87961G>C (p.Val29321Leu)
c.69577G>C (p.Val23193Leu)
c.91072G>C (p.Val30358Leu)
c.91069G>C (p.Val30357Leu)
c.90502G>C (p.Val30168Leu)
c.87844G>C (p.Val29282Leu)
c.87763G>C (p.Val29255Leu)
c.69526G>C (p.Val23176Leu)
c.59380G>C (p.Val19794Leu)
2g.178543342C>TCA349446352TTN,TTN-AS1c.88927G>A (p.Val29643Met)
c.70012G>A (p.Val23338Met)
c.69811G>A (p.Val23271Met)
c.69436G>A (p.Val23146Met)
c.96631G>A (p.Val32211Met)
c.91708G>A (p.Val30570Met)
n.446+19706C>T
n.2043+981C>T
c.95728G>A (p.Val31910Met)
c.69622G>A (p.Val23208Met)
c.69481G>A (p.Val23161Met)
c.95524G>A (p.Val31842Met)
c.90922G>A (p.Val30308Met)
c.90919G>A (p.Val30307Met)
c.87961G>A (p.Val29321Met)
c.69577G>A (p.Val23193Met)
c.91072G>A (p.Val30358Met)
c.91069G>A (p.Val30357Met)
c.90502G>A (p.Val30168Met)
c.87844G>A (p.Val29282Met)
c.87763G>A (p.Val29255Met)
c.69526G>A (p.Val23176Met)
c.59380G>A (p.Val19794Met)
 dbSNP
2g.178543343T>ACA349446355TTN,TTN-AS1c.88926A>T (p.Glu29642Asp)
c.70011A>T (p.Glu23337Asp)
c.69810A>T (p.Glu23270Asp)
c.69435A>T (p.Glu23145Asp)
c.96630A>T (p.Glu32210Asp)
c.91707A>T (p.Glu30569Asp)
n.446+19707T>A
n.2043+982T>A
c.95727A>T (p.Glu31909Asp)
c.69621A>T (p.Glu23207Asp)
c.69480A>T (p.Glu23160Asp)
c.95523A>T (p.Glu31841Asp)
c.90921A>T (p.Glu30307Asp)
c.90918A>T (p.Glu30306Asp)
c.87960A>T (p.Glu29320Asp)
c.69576A>T (p.Glu23192Asp)
c.91071A>T (p.Glu30357Asp)
c.91068A>T (p.Glu30356Asp)
c.90501A>T (p.Glu30167Asp)
c.87843A>T (p.Glu29281Asp)
c.87762A>T (p.Glu29254Asp)
c.69525A>T (p.Glu23175Asp)
c.59379A>T (p.Glu19793Asp)
2g.178543343T>CCA430241443TTN,TTN-AS1c.88926A>G (p.Glu29642=)
c.70011A>G (p.Glu23337=)
c.69810A>G (p.Glu23270=)
c.69435A>G (p.Glu23145=)
c.96630A>G (p.Glu32210=)
c.91707A>G (p.Glu30569=)
n.446+19707T>C
n.2043+982T>C
c.95727A>G (p.Glu31909=)
c.69621A>G (p.Glu23207=)
c.69480A>G (p.Glu23160=)
c.95523A>G (p.Glu31841=)
c.90921A>G (p.Glu30307=)
c.90918A>G (p.Glu30306=)
c.87960A>G (p.Glu29320=)
c.69576A>G (p.Glu23192=)
c.91071A>G (p.Glu30357=)
c.91068A>G (p.Glu30356=)
c.90501A>G (p.Glu30167=)
c.87843A>G (p.Glu29281=)
c.87762A>G (p.Glu29254=)
c.69525A>G (p.Glu23175=)
c.59379A>G (p.Glu19793=)
 gnomAD v4
2g.178543343T>GCA349446357TTN,TTN-AS1c.88926A>C (p.Glu29642Asp)
c.70011A>C (p.Glu23337Asp)
c.69810A>C (p.Glu23270Asp)
c.69435A>C (p.Glu23145Asp)
c.96630A>C (p.Glu32210Asp)
c.91707A>C (p.Glu30569Asp)
n.446+19707T>G
n.2043+982T>G
c.95727A>C (p.Glu31909Asp)
c.69621A>C (p.Glu23207Asp)
c.69480A>C (p.Glu23160Asp)
c.95523A>C (p.Glu31841Asp)
c.90921A>C (p.Glu30307Asp)
c.90918A>C (p.Glu30306Asp)
c.87960A>C (p.Glu29320Asp)
c.69576A>C (p.Glu23192Asp)
c.91071A>C (p.Glu30357Asp)
c.91068A>C (p.Glu30356Asp)
c.90501A>C (p.Glu30167Asp)
c.87843A>C (p.Glu29281Asp)
c.87762A>C (p.Glu29254Asp)
c.69525A>C (p.Glu23175Asp)
c.59379A>C (p.Glu19793Asp)
2g.178543344T>ACA349446376TTN,TTN-AS1c.88925A>T (p.Glu29642Val)
c.70010A>T (p.Glu23337Val)
c.69809A>T (p.Glu23270Val)
c.69434A>T (p.Glu23145Val)
c.96629A>T (p.Glu32210Val)
c.91706A>T (p.Glu30569Val)
n.446+19708T>A
n.2043+983T>A
c.95726A>T (p.Glu31909Val)
c.69620A>T (p.Glu23207Val)
c.69479A>T (p.Glu23160Val)
c.95522A>T (p.Glu31841Val)
c.90920A>T (p.Glu30307Val)
c.90917A>T (p.Glu30306Val)
c.87959A>T (p.Glu29320Val)
c.69575A>T (p.Glu23192Val)
c.91070A>T (p.Glu30357Val)
c.91067A>T (p.Glu30356Val)
c.90500A>T (p.Glu30167Val)
c.87842A>T (p.Glu29281Val)
c.87761A>T (p.Glu29254Val)
c.69524A>T (p.Glu23175Val)
c.59378A>T (p.Glu19793Val)
2g.178543344T>CCA349446382TTN,TTN-AS1c.88925A>G (p.Glu29642Gly)
c.70010A>G (p.Glu23337Gly)
c.69809A>G (p.Glu23270Gly)
c.69434A>G (p.Glu23145Gly)
c.96629A>G (p.Glu32210Gly)
c.91706A>G (p.Glu30569Gly)
n.446+19708T>C
n.2043+983T>C
c.95726A>G (p.Glu31909Gly)
c.69620A>G (p.Glu23207Gly)
c.69479A>G (p.Glu23160Gly)
c.95522A>G (p.Glu31841Gly)
c.90920A>G (p.Glu30307Gly)
c.90917A>G (p.Glu30306Gly)
c.87959A>G (p.Glu29320Gly)
c.69575A>G (p.Glu23192Gly)
c.91070A>G (p.Glu30357Gly)
c.91067A>G (p.Glu30356Gly)
c.90500A>G (p.Glu30167Gly)
c.87842A>G (p.Glu29281Gly)
c.87761A>G (p.Glu29254Gly)
c.69524A>G (p.Glu23175Gly)
c.59378A>G (p.Glu19793Gly)
2g.178543344T>GCA349446374TTN,TTN-AS1c.88925A>C (p.Glu29642Ala)
c.70010A>C (p.Glu23337Ala)
c.69809A>C (p.Glu23270Ala)
c.69434A>C (p.Glu23145Ala)
c.96629A>C (p.Glu32210Ala)
c.91706A>C (p.Glu30569Ala)
n.446+19708T>G
n.2043+983T>G
c.95726A>C (p.Glu31909Ala)
c.69620A>C (p.Glu23207Ala)
c.69479A>C (p.Glu23160Ala)
c.95522A>C (p.Glu31841Ala)
c.90920A>C (p.Glu30307Ala)
c.90917A>C (p.Glu30306Ala)
c.87959A>C (p.Glu29320Ala)
c.69575A>C (p.Glu23192Ala)
c.91070A>C (p.Glu30357Ala)
c.91067A>C (p.Glu30356Ala)
c.90500A>C (p.Glu30167Ala)
c.87842A>C (p.Glu29281Ala)
c.87761A>C (p.Glu29254Ala)
c.69524A>C (p.Glu23175Ala)
c.59378A>C (p.Glu19793Ala)
2g.178543345C>ACA349446386TTN,TTN-AS1c.88924G>T (p.Glu29642Ter)
c.70009G>T (p.Glu23337Ter)
c.69808G>T (p.Glu23270Ter)
c.69433G>T (p.Glu23145Ter)
c.96628G>T (p.Glu32210Ter)
c.91705G>T (p.Glu30569Ter)
n.446+19709C>A
n.2043+984C>A
c.95725G>T (p.Glu31909Ter)
c.69619G>T (p.Glu23207Ter)
c.69478G>T (p.Glu23160Ter)
c.95521G>T (p.Glu31841Ter)
c.90919G>T (p.Glu30307Ter)
c.90916G>T (p.Glu30306Ter)
c.87958G>T (p.Glu29320Ter)
c.69574G>T (p.Glu23192Ter)
c.91069G>T (p.Glu30357Ter)
c.91066G>T (p.Glu30356Ter)
c.90499G>T (p.Glu30167Ter)
c.87841G>T (p.Glu29281Ter)
c.87760G>T (p.Glu29254Ter)
c.69523G>T (p.Glu23175Ter)
c.59377G>T (p.Glu19793Ter)
 ClinVar
2g.178543345C>GCA349446389TTN,TTN-AS1c.88924G>C (p.Glu29642Gln)
c.70009G>C (p.Glu23337Gln)
c.69808G>C (p.Glu23270Gln)
c.69433G>C (p.Glu23145Gln)
c.96628G>C (p.Glu32210Gln)
c.91705G>C (p.Glu30569Gln)
n.446+19709C>G
n.2043+984C>G
c.95725G>C (p.Glu31909Gln)
c.69619G>C (p.Glu23207Gln)
c.69478G>C (p.Glu23160Gln)
c.95521G>C (p.Glu31841Gln)
c.90919G>C (p.Glu30307Gln)
c.90916G>C (p.Glu30306Gln)
c.87958G>C (p.Glu29320Gln)
c.69574G>C (p.Glu23192Gln)
c.91069G>C (p.Glu30357Gln)
c.91066G>C (p.Glu30356Gln)
c.90499G>C (p.Glu30167Gln)
c.87841G>C (p.Glu29281Gln)
c.87760G>C (p.Glu29254Gln)
c.69523G>C (p.Glu23175Gln)
c.59377G>C (p.Glu19793Gln)
2g.178543345C>TCA349446401TTN,TTN-AS1c.88924G>A (p.Glu29642Lys)
c.70009G>A (p.Glu23337Lys)
c.69808G>A (p.Glu23270Lys)
c.69433G>A (p.Glu23145Lys)
c.96628G>A (p.Glu32210Lys)
c.91705G>A (p.Glu30569Lys)
n.446+19709C>T
n.2043+984C>T
c.95725G>A (p.Glu31909Lys)
c.69619G>A (p.Glu23207Lys)
c.69478G>A (p.Glu23160Lys)
c.95521G>A (p.Glu31841Lys)
c.90919G>A (p.Glu30307Lys)
c.90916G>A (p.Glu30306Lys)
c.87958G>A (p.Glu29320Lys)
c.69574G>A (p.Glu23192Lys)
c.91069G>A (p.Glu30357Lys)
c.91066G>A (p.Glu30356Lys)
c.90499G>A (p.Glu30167Lys)
c.87841G>A (p.Glu29281Lys)
c.87760G>A (p.Glu29254Lys)
c.69523G>A (p.Glu23175Lys)
c.59377G>A (p.Glu19793Lys)
2g.178543346T>ACA430241454TTN,TTN-AS1c.88923A>T (p.Leu29641=)
c.70008A>T (p.Leu23336=)
c.69807A>T (p.Leu23269=)
c.69432A>T (p.Leu23144=)
c.96627A>T (p.Leu32209=)
c.91704A>T (p.Leu30568=)
n.446+19710T>A
n.2043+985T>A
c.95724A>T (p.Leu31908=)
c.69618A>T (p.Leu23206=)
c.69477A>T (p.Leu23159=)
c.95520A>T (p.Leu31840=)
c.90918A>T (p.Leu30306=)
c.90915A>T (p.Leu30305=)
c.87957A>T (p.Leu29319=)
c.69573A>T (p.Leu23191=)
c.91068A>T (p.Leu30356=)
c.91065A>T (p.Leu30355=)
c.90498A>T (p.Leu30166=)
c.87840A>T (p.Leu29280=)
c.87759A>T (p.Leu29253=)
c.69522A>T (p.Leu23174=)
c.59376A>T (p.Leu19792=)
2g.178543346T>CCA430241453TTN,TTN-AS1c.88923A>G (p.Leu29641=)
c.70008A>G (p.Leu23336=)
c.69807A>G (p.Leu23269=)
c.69432A>G (p.Leu23144=)
c.96627A>G (p.Leu32209=)
c.91704A>G (p.Leu30568=)
n.446+19710T>C
n.2043+985T>C
c.95724A>G (p.Leu31908=)
c.69618A>G (p.Leu23206=)
c.69477A>G (p.Leu23159=)
c.95520A>G (p.Leu31840=)
c.90918A>G (p.Leu30306=)
c.90915A>G (p.Leu30305=)
c.87957A>G (p.Leu29319=)
c.69573A>G (p.Leu23191=)
c.91068A>G (p.Leu30356=)
c.91065A>G (p.Leu30355=)
c.90498A>G (p.Leu30166=)
c.87840A>G (p.Leu29280=)
c.87759A>G (p.Leu29253=)
c.69522A>G (p.Leu23174=)
c.59376A>G (p.Leu19792=)
2g.178543346T>GCA430241452TTN,TTN-AS1c.88923A>C (p.Leu29641=)
c.70008A>C (p.Leu23336=)
c.69807A>C (p.Leu23269=)
c.69432A>C (p.Leu23144=)
c.96627A>C (p.Leu32209=)
c.91704A>C (p.Leu30568=)
n.446+19710T>G
n.2043+985T>G
c.95724A>C (p.Leu31908=)
c.69618A>C (p.Leu23206=)
c.69477A>C (p.Leu23159=)
c.95520A>C (p.Leu31840=)
c.90918A>C (p.Leu30306=)
c.90915A>C (p.Leu30305=)
c.87957A>C (p.Leu29319=)
c.69573A>C (p.Leu23191=)
c.91068A>C (p.Leu30356=)
c.91065A>C (p.Leu30355=)
c.90498A>C (p.Leu30166=)
c.87840A>C (p.Leu29280=)
c.87759A>C (p.Leu29253=)
c.69522A>C (p.Leu23174=)
c.59376A>C (p.Leu19792=)
2g.178543347A>CCA349446404TTN,TTN-AS1c.88922T>G (p.Leu29641Arg)
c.70007T>G (p.Leu23336Arg)
c.69806T>G (p.Leu23269Arg)
c.69431T>G (p.Leu23144Arg)
c.96626T>G (p.Leu32209Arg)
c.91703T>G (p.Leu30568Arg)
n.446+19711A>C
n.2043+986A>C
c.95723T>G (p.Leu31908Arg)
c.69617T>G (p.Leu23206Arg)
c.69476T>G (p.Leu23159Arg)
c.95519T>G (p.Leu31840Arg)
c.90917T>G (p.Leu30306Arg)
c.90914T>G (p.Leu30305Arg)
c.87956T>G (p.Leu29319Arg)
c.69572T>G (p.Leu23191Arg)
c.91067T>G (p.Leu30356Arg)
c.91064T>G (p.Leu30355Arg)
c.90497T>G (p.Leu30166Arg)
c.87839T>G (p.Leu29280Arg)
c.87758T>G (p.Leu29253Arg)
c.69521T>G (p.Leu23174Arg)
c.59375T>G (p.Leu19792Arg)
2g.178543347A>GCA349446406TTN,TTN-AS1c.88922T>C (p.Leu29641Pro)
c.70007T>C (p.Leu23336Pro)
c.69806T>C (p.Leu23269Pro)
c.69431T>C (p.Leu23144Pro)
c.96626T>C (p.Leu32209Pro)
c.91703T>C (p.Leu30568Pro)
n.446+19711A>G
n.2043+986A>G
c.95723T>C (p.Leu31908Pro)
c.69617T>C (p.Leu23206Pro)
c.69476T>C (p.Leu23159Pro)
c.95519T>C (p.Leu31840Pro)
c.90917T>C (p.Leu30306Pro)
c.90914T>C (p.Leu30305Pro)
c.87956T>C (p.Leu29319Pro)
c.69572T>C (p.Leu23191Pro)
c.91067T>C (p.Leu30356Pro)
c.91064T>C (p.Leu30355Pro)
c.90497T>C (p.Leu30166Pro)
c.87839T>C (p.Leu29280Pro)
c.87758T>C (p.Leu29253Pro)
c.69521T>C (p.Leu23174Pro)
c.59375T>C (p.Leu19792Pro)
2g.178543347A>TCA349446408TTN,TTN-AS1c.88922T>A (p.Leu29641Gln)
c.70007T>A (p.Leu23336Gln)
c.69806T>A (p.Leu23269Gln)
c.69431T>A (p.Leu23144Gln)
c.96626T>A (p.Leu32209Gln)
c.91703T>A (p.Leu30568Gln)
n.446+19711A>T
n.2043+986A>T
c.95723T>A (p.Leu31908Gln)
c.69617T>A (p.Leu23206Gln)
c.69476T>A (p.Leu23159Gln)
c.95519T>A (p.Leu31840Gln)
c.90917T>A (p.Leu30306Gln)
c.90914T>A (p.Leu30305Gln)
c.87956T>A (p.Leu29319Gln)
c.69572T>A (p.Leu23191Gln)
c.91067T>A (p.Leu30356Gln)
c.91064T>A (p.Leu30355Gln)
c.90497T>A (p.Leu30166Gln)
c.87839T>A (p.Leu29280Gln)
c.87758T>A (p.Leu29253Gln)
c.69521T>A (p.Leu23174Gln)
c.59375T>A (p.Leu19792Gln)
2g.178543348G>ACA430241456TTN,TTN-AS1c.88921C>T (p.Leu29641=)
c.70006C>T (p.Leu23336=)
c.69805C>T (p.Leu23269=)
c.69430C>T (p.Leu23144=)
c.96625C>T (p.Leu32209=)
c.91702C>T (p.Leu30568=)
n.446+19712G>A
n.2043+987G>A
c.95722C>T (p.Leu31908=)
c.69616C>T (p.Leu23206=)
c.69475C>T (p.Leu23159=)
c.95518C>T (p.Leu31840=)
c.90916C>T (p.Leu30306=)
c.90913C>T (p.Leu30305=)
c.87955C>T (p.Leu29319=)
c.69571C>T (p.Leu23191=)
c.91066C>T (p.Leu30356=)
c.91063C>T (p.Leu30355=)
c.90496C>T (p.Leu30166=)
c.87838C>T (p.Leu29280=)
c.87757C>T (p.Leu29253=)
c.69520C>T (p.Leu23174=)
c.59374C>T (p.Leu19792=)
2g.178543348G>CCA349446412TTN,TTN-AS1c.88921C>G (p.Leu29641Val)
c.70006C>G (p.Leu23336Val)
c.69805C>G (p.Leu23269Val)
c.69430C>G (p.Leu23144Val)
c.96625C>G (p.Leu32209Val)
c.91702C>G (p.Leu30568Val)
n.446+19712G>C
n.2043+987G>C
c.95722C>G (p.Leu31908Val)
c.69616C>G (p.Leu23206Val)
c.69475C>G (p.Leu23159Val)
c.95518C>G (p.Leu31840Val)
c.90916C>G (p.Leu30306Val)
c.90913C>G (p.Leu30305Val)
c.87955C>G (p.Leu29319Val)
c.69571C>G (p.Leu23191Val)
c.91066C>G (p.Leu30356Val)
c.91063C>G (p.Leu30355Val)
c.90496C>G (p.Leu30166Val)
c.87838C>G (p.Leu29280Val)
c.87757C>G (p.Leu29253Val)
c.69520C>G (p.Leu23174Val)
c.59374C>G (p.Leu19792Val)
2g.178543348G>TCA349446425TTN,TTN-AS1c.88921C>A (p.Leu29641Ile)
c.70006C>A (p.Leu23336Ile)
c.69805C>A (p.Leu23269Ile)
c.69430C>A (p.Leu23144Ile)
c.96625C>A (p.Leu32209Ile)
c.91702C>A (p.Leu30568Ile)
n.446+19712G>T
n.2043+987G>T
c.95722C>A (p.Leu31908Ile)
c.69616C>A (p.Leu23206Ile)
c.69475C>A (p.Leu23159Ile)
c.95518C>A (p.Leu31840Ile)
c.90916C>A (p.Leu30306Ile)
c.90913C>A (p.Leu30305Ile)
c.87955C>A (p.Leu29319Ile)
c.69571C>A (p.Leu23191Ile)
c.91066C>A (p.Leu30356Ile)
c.91063C>A (p.Leu30355Ile)
c.90496C>A (p.Leu30166Ile)
c.87838C>A (p.Leu29280Ile)
c.87757C>A (p.Leu29253Ile)
c.69520C>A (p.Leu23174Ile)
c.59374C>A (p.Leu19792Ile)
2g.178543349C>ACA349446429TTN,TTN-AS1c.88920G>T (p.Lys29640Asn)
c.70005G>T (p.Lys23335Asn)
c.69804G>T (p.Lys23268Asn)
c.69429G>T (p.Lys23143Asn)
c.96624G>T (p.Lys32208Asn)
c.91701G>T (p.Lys30567Asn)
n.446+19713C>A
n.2043+988C>A
c.95721G>T (p.Lys31907Asn)
c.69615G>T (p.Lys23205Asn)
c.69474G>T (p.Lys23158Asn)
c.95517G>T (p.Lys31839Asn)
c.90915G>T (p.Lys30305Asn)
c.90912G>T (p.Lys30304Asn)
c.87954G>T (p.Lys29318Asn)
c.69570G>T (p.Lys23190Asn)
c.91065G>T (p.Lys30355Asn)
c.91062G>T (p.Lys30354Asn)
c.90495G>T (p.Lys30165Asn)
c.87837G>T (p.Lys29279Asn)
c.87756G>T (p.Lys29252Asn)
c.69519G>T (p.Lys23173Asn)
c.59373G>T (p.Lys19791Asn)
2g.178543349C>GCA349446431TTN,TTN-AS1c.88920G>C (p.Lys29640Asn)
c.70005G>C (p.Lys23335Asn)
c.69804G>C (p.Lys23268Asn)
c.69429G>C (p.Lys23143Asn)
c.96624G>C (p.Lys32208Asn)
c.91701G>C (p.Lys30567Asn)
n.446+19713C>G
n.2043+988C>G
c.95721G>C (p.Lys31907Asn)
c.69615G>C (p.Lys23205Asn)
c.69474G>C (p.Lys23158Asn)
c.95517G>C (p.Lys31839Asn)
c.90915G>C (p.Lys30305Asn)
c.90912G>C (p.Lys30304Asn)
c.87954G>C (p.Lys29318Asn)
c.69570G>C (p.Lys23190Asn)
c.91065G>C (p.Lys30355Asn)
c.91062G>C (p.Lys30354Asn)
c.90495G>C (p.Lys30165Asn)
c.87837G>C (p.Lys29279Asn)
c.87756G>C (p.Lys29252Asn)
c.69519G>C (p.Lys23173Asn)
c.59373G>C (p.Lys19791Asn)
2g.178543349C>TCA430241463TTN,TTN-AS1c.88920G>A (p.Lys29640=)
c.70005G>A (p.Lys23335=)
c.69804G>A (p.Lys23268=)
c.69429G>A (p.Lys23143=)
c.96624G>A (p.Lys32208=)
c.91701G>A (p.Lys30567=)
n.446+19713C>T
n.2043+988C>T
c.95721G>A (p.Lys31907=)
c.69615G>A (p.Lys23205=)
c.69474G>A (p.Lys23158=)
c.95517G>A (p.Lys31839=)
c.90915G>A (p.Lys30305=)
c.90912G>A (p.Lys30304=)
c.87954G>A (p.Lys29318=)
c.69570G>A (p.Lys23190=)
c.91065G>A (p.Lys30355=)
c.91062G>A (p.Lys30354=)
c.90495G>A (p.Lys30165=)
c.87837G>A (p.Lys29279=)
c.87756G>A (p.Lys29252=)
c.69519G>A (p.Lys23173=)
c.59373G>A (p.Lys19791=)
 gnomAD v4
2g.178543350T>ACA349446436TTN,TTN-AS1c.88919A>T (p.Lys29640Met)
c.70004A>T (p.Lys23335Met)
c.69803A>T (p.Lys23268Met)
c.69428A>T (p.Lys23143Met)
c.96623A>T (p.Lys32208Met)
c.91700A>T (p.Lys30567Met)
n.446+19714T>A
n.2043+989T>A
c.95720A>T (p.Lys31907Met)
c.69614A>T (p.Lys23205Met)
c.69473A>T (p.Lys23158Met)
c.95516A>T (p.Lys31839Met)
c.90914A>T (p.Lys30305Met)
c.90911A>T (p.Lys30304Met)
c.87953A>T (p.Lys29318Met)
c.69569A>T (p.Lys23190Met)
c.91064A>T (p.Lys30355Met)
c.91061A>T (p.Lys30354Met)
c.90494A>T (p.Lys30165Met)
c.87836A>T (p.Lys29279Met)
c.87755A>T (p.Lys29252Met)
c.69518A>T (p.Lys23173Met)
c.59372A>T (p.Lys19791Met)
2g.178543350T>CCA349446437TTN,TTN-AS1c.88919A>G (p.Lys29640Arg)
c.70004A>G (p.Lys23335Arg)
c.69803A>G (p.Lys23268Arg)
c.69428A>G (p.Lys23143Arg)
c.96623A>G (p.Lys32208Arg)
c.91700A>G (p.Lys30567Arg)
n.446+19714T>C
n.2043+989T>C
c.95720A>G (p.Lys31907Arg)
c.69614A>G (p.Lys23205Arg)
c.69473A>G (p.Lys23158Arg)
c.95516A>G (p.Lys31839Arg)
c.90914A>G (p.Lys30305Arg)
c.90911A>G (p.Lys30304Arg)
c.87953A>G (p.Lys29318Arg)
c.69569A>G (p.Lys23190Arg)
c.91064A>G (p.Lys30355Arg)
c.91061A>G (p.Lys30354Arg)
c.90494A>G (p.Lys30165Arg)
c.87836A>G (p.Lys29279Arg)
c.87755A>G (p.Lys29252Arg)
c.69518A>G (p.Lys23173Arg)
c.59372A>G (p.Lys19791Arg)
 gnomAD v4
2g.178543350T>GCA349446438TTN,TTN-AS1c.88919A>C (p.Lys29640Thr)
c.70004A>C (p.Lys23335Thr)
c.69803A>C (p.Lys23268Thr)
c.69428A>C (p.Lys23143Thr)
c.96623A>C (p.Lys32208Thr)
c.91700A>C (p.Lys30567Thr)
n.446+19714T>G
n.2043+989T>G
c.95720A>C (p.Lys31907Thr)
c.69614A>C (p.Lys23205Thr)
c.69473A>C (p.Lys23158Thr)
c.95516A>C (p.Lys31839Thr)
c.90914A>C (p.Lys30305Thr)
c.90911A>C (p.Lys30304Thr)
c.87953A>C (p.Lys29318Thr)
c.69569A>C (p.Lys23190Thr)
c.91064A>C (p.Lys30355Thr)
c.91061A>C (p.Lys30354Thr)
c.90494A>C (p.Lys30165Thr)
c.87836A>C (p.Lys29279Thr)
c.87755A>C (p.Lys29252Thr)
c.69518A>C (p.Lys23173Thr)
c.59372A>C (p.Lys19791Thr)
2g.178543351T>ACA349446448TTN,TTN-AS1c.88918A>T (p.Lys29640Ter)
c.70003A>T (p.Lys23335Ter)
c.69802A>T (p.Lys23268Ter)
c.69427A>T (p.Lys23143Ter)
c.96622A>T (p.Lys32208Ter)
c.91699A>T (p.Lys30567Ter)
n.446+19715T>A
n.2043+990T>A
c.95719A>T (p.Lys31907Ter)
c.69613A>T (p.Lys23205Ter)
c.69472A>T (p.Lys23158Ter)
c.95515A>T (p.Lys31839Ter)
c.90913A>T (p.Lys30305Ter)
c.90910A>T (p.Lys30304Ter)
c.87952A>T (p.Lys29318Ter)
c.69568A>T (p.Lys23190Ter)
c.91063A>T (p.Lys30355Ter)
c.91060A>T (p.Lys30354Ter)
c.90493A>T (p.Lys30165Ter)
c.87835A>T (p.Lys29279Ter)
c.87754A>T (p.Lys29252Ter)
c.69517A>T (p.Lys23173Ter)
c.59371A>T (p.Lys19791Ter)
2g.178543351T>CCA349446442TTN,TTN-AS1c.88918A>G (p.Lys29640Glu)
c.70003A>G (p.Lys23335Glu)
c.69802A>G (p.Lys23268Glu)
c.69427A>G (p.Lys23143Glu)
c.96622A>G (p.Lys32208Glu)
c.91699A>G (p.Lys30567Glu)
n.446+19715T>C
n.2043+990T>C
c.95719A>G (p.Lys31907Glu)
c.69613A>G (p.Lys23205Glu)
c.69472A>G (p.Lys23158Glu)
c.95515A>G (p.Lys31839Glu)
c.90913A>G (p.Lys30305Glu)
c.90910A>G (p.Lys30304Glu)
c.87952A>G (p.Lys29318Glu)
c.69568A>G (p.Lys23190Glu)
c.91063A>G (p.Lys30355Glu)
c.91060A>G (p.Lys30354Glu)
c.90493A>G (p.Lys30165Glu)
c.87835A>G (p.Lys29279Glu)
c.87754A>G (p.Lys29252Glu)
c.69517A>G (p.Lys23173Glu)
c.59371A>G (p.Lys19791Glu)
2g.178543351T>GCA349446439TTN,TTN-AS1c.88918A>C (p.Lys29640Gln)
c.70003A>C (p.Lys23335Gln)
c.69802A>C (p.Lys23268Gln)
c.69427A>C (p.Lys23143Gln)
c.96622A>C (p.Lys32208Gln)
c.91699A>C (p.Lys30567Gln)
n.446+19715T>G
n.2043+990T>G
c.95719A>C (p.Lys31907Gln)
c.69613A>C (p.Lys23205Gln)
c.69472A>C (p.Lys23158Gln)
c.95515A>C (p.Lys31839Gln)
c.90913A>C (p.Lys30305Gln)
c.90910A>C (p.Lys30304Gln)
c.87952A>C (p.Lys29318Gln)
c.69568A>C (p.Lys23190Gln)
c.91063A>C (p.Lys30355Gln)
c.91060A>C (p.Lys30354Gln)
c.90493A>C (p.Lys30165Gln)
c.87835A>C (p.Lys29279Gln)
c.87754A>C (p.Lys29252Gln)
c.69517A>C (p.Lys23173Gln)
c.59371A>C (p.Lys19791Gln)
2g.178543352T>ACA430241472TTN,TTN-AS1c.88917A>T (p.Ala29639=)
c.70002A>T (p.Ala23334=)
c.69801A>T (p.Ala23267=)
c.69426A>T (p.Ala23142=)
c.96621A>T (p.Ala32207=)
c.91698A>T (p.Ala30566=)
n.446+19716T>A
n.2043+991T>A
c.95718A>T (p.Ala31906=)
c.69612A>T (p.Ala23204=)
c.69471A>T (p.Ala23157=)
c.95514A>T (p.Ala31838=)
c.90912A>T (p.Ala30304=)
c.90909A>T (p.Ala30303=)
c.87951A>T (p.Ala29317=)
c.69567A>T (p.Ala23189=)
c.91062A>T (p.Ala30354=)
c.91059A>T (p.Ala30353=)
c.90492A>T (p.Ala30164=)
c.87834A>T (p.Ala29278=)
c.87753A>T (p.Ala29251=)
c.69516A>T (p.Ala23172=)
c.59370A>T (p.Ala19790=)
2g.178543352T>CCA430241476TTN,TTN-AS1c.88917A>G (p.Ala29639=)
c.70002A>G (p.Ala23334=)
c.69801A>G (p.Ala23267=)
c.69426A>G (p.Ala23142=)
c.96621A>G (p.Ala32207=)
c.91698A>G (p.Ala30566=)
n.446+19716T>C
n.2043+991T>C
c.95718A>G (p.Ala31906=)
c.69612A>G (p.Ala23204=)
c.69471A>G (p.Ala23157=)
c.95514A>G (p.Ala31838=)
c.90912A>G (p.Ala30304=)
c.90909A>G (p.Ala30303=)
c.87951A>G (p.Ala29317=)
c.69567A>G (p.Ala23189=)
c.91062A>G (p.Ala30354=)
c.91059A>G (p.Ala30353=)
c.90492A>G (p.Ala30164=)
c.87834A>G (p.Ala29278=)
c.87753A>G (p.Ala29251=)
c.69516A>G (p.Ala23172=)
c.59370A>G (p.Ala19790=)
2g.178543352T>GCA430241474TTN,TTN-AS1c.88917A>C (p.Ala29639=)
c.70002A>C (p.Ala23334=)
c.69801A>C (p.Ala23267=)
c.69426A>C (p.Ala23142=)
c.96621A>C (p.Ala32207=)
c.91698A>C (p.Ala30566=)
n.446+19716T>G
n.2043+991T>G
c.95718A>C (p.Ala31906=)
c.69612A>C (p.Ala23204=)
c.69471A>C (p.Ala23157=)
c.95514A>C (p.Ala31838=)
c.90912A>C (p.Ala30304=)
c.90909A>C (p.Ala30303=)
c.87951A>C (p.Ala29317=)
c.69567A>C (p.Ala23189=)
c.91062A>C (p.Ala30354=)
c.91059A>C (p.Ala30353=)
c.90492A>C (p.Ala30164=)
c.87834A>C (p.Ala29278=)
c.87753A>C (p.Ala29251=)
c.69516A>C (p.Ala23172=)
c.59370A>C (p.Ala19790=)
2g.178543353G>ACA349446454TTN,TTN-AS1c.88916C>T (p.Ala29639Val)
c.70001C>T (p.Ala23334Val)
c.69800C>T (p.Ala23267Val)
c.69425C>T (p.Ala23142Val)
c.96620C>T (p.Ala32207Val)
c.91697C>T (p.Ala30566Val)
n.446+19717G>A
n.2043+992G>A
c.95717C>T (p.Ala31906Val)
c.69611C>T (p.Ala23204Val)
c.69470C>T (p.Ala23157Val)
c.95513C>T (p.Ala31838Val)
c.90911C>T (p.Ala30304Val)
c.90908C>T (p.Ala30303Val)
c.87950C>T (p.Ala29317Val)
c.69566C>T (p.Ala23189Val)
c.91061C>T (p.Ala30354Val)
c.91058C>T (p.Ala30353Val)
c.90491C>T (p.Ala30164Val)
c.87833C>T (p.Ala29278Val)
c.87752C>T (p.Ala29251Val)
c.69515C>T (p.Ala23172Val)
c.59369C>T (p.Ala19790Val)
2g.178543353G>CCA349446463TTN,TTN-AS1c.88916C>G (p.Ala29639Gly)
c.70001C>G (p.Ala23334Gly)
c.69800C>G (p.Ala23267Gly)
c.69425C>G (p.Ala23142Gly)
c.96620C>G (p.Ala32207Gly)
c.91697C>G (p.Ala30566Gly)
n.446+19717G>C
n.2043+992G>C
c.95717C>G (p.Ala31906Gly)
c.69611C>G (p.Ala23204Gly)
c.69470C>G (p.Ala23157Gly)
c.95513C>G (p.Ala31838Gly)
c.90911C>G (p.Ala30304Gly)
c.90908C>G (p.Ala30303Gly)
c.87950C>G (p.Ala29317Gly)
c.69566C>G (p.Ala23189Gly)
c.91061C>G (p.Ala30354Gly)
c.91058C>G (p.Ala30353Gly)
c.90491C>G (p.Ala30164Gly)
c.87833C>G (p.Ala29278Gly)
c.87752C>G (p.Ala29251Gly)
c.69515C>G (p.Ala23172Gly)
c.59369C>G (p.Ala19790Gly)
2g.178543353G>TCA349446470TTN,TTN-AS1c.88916C>A (p.Ala29639Glu)
c.70001C>A (p.Ala23334Glu)
c.69800C>A (p.Ala23267Glu)
c.69425C>A (p.Ala23142Glu)
c.96620C>A (p.Ala32207Glu)
c.91697C>A (p.Ala30566Glu)
n.446+19717G>T
n.2043+992G>T
c.95717C>A (p.Ala31906Glu)
c.69611C>A (p.Ala23204Glu)
c.69470C>A (p.Ala23157Glu)
c.95513C>A (p.Ala31838Glu)
c.90911C>A (p.Ala30304Glu)
c.90908C>A (p.Ala30303Glu)
c.87950C>A (p.Ala29317Glu)
c.69566C>A (p.Ala23189Glu)
c.91061C>A (p.Ala30354Glu)
c.91058C>A (p.Ala30353Glu)
c.90491C>A (p.Ala30164Glu)
c.87833C>A (p.Ala29278Glu)
c.87752C>A (p.Ala29251Glu)
c.69515C>A (p.Ala23172Glu)
c.59369C>A (p.Ala19790Glu)
2g.178543354C>ACA349446480TTN,TTN-AS1c.88915G>T (p.Ala29639Ser)
c.70000G>T (p.Ala23334Ser)
c.69799G>T (p.Ala23267Ser)
c.69424G>T (p.Ala23142Ser)
c.96619G>T (p.Ala32207Ser)
c.91696G>T (p.Ala30566Ser)
n.446+19718C>A
n.2043+993C>A
c.95716G>T (p.Ala31906Ser)
c.69610G>T (p.Ala23204Ser)
c.69469G>T (p.Ala23157Ser)
c.95512G>T (p.Ala31838Ser)
c.90910G>T (p.Ala30304Ser)
c.90907G>T (p.Ala30303Ser)
c.87949G>T (p.Ala29317Ser)
c.69565G>T (p.Ala23189Ser)
c.91060G>T (p.Ala30354Ser)
c.91057G>T (p.Ala30353Ser)
c.90490G>T (p.Ala30164Ser)
c.87832G>T (p.Ala29278Ser)
c.87751G>T (p.Ala29251Ser)
c.69514G>T (p.Ala23172Ser)
c.59368G>T (p.Ala19790Ser)
2g.178543354C>GCA349446484TTN,TTN-AS1c.88915G>C (p.Ala29639Pro)
c.70000G>C (p.Ala23334Pro)
c.69799G>C (p.Ala23267Pro)
c.69424G>C (p.Ala23142Pro)
c.96619G>C (p.Ala32207Pro)
c.91696G>C (p.Ala30566Pro)
n.446+19718C>G
n.2043+993C>G
c.95716G>C (p.Ala31906Pro)
c.69610G>C (p.Ala23204Pro)
c.69469G>C (p.Ala23157Pro)
c.95512G>C (p.Ala31838Pro)
c.90910G>C (p.Ala30304Pro)
c.90907G>C (p.Ala30303Pro)
c.87949G>C (p.Ala29317Pro)
c.69565G>C (p.Ala23189Pro)
c.91060G>C (p.Ala30354Pro)
c.91057G>C (p.Ala30353Pro)
c.90490G>C (p.Ala30164Pro)
c.87832G>C (p.Ala29278Pro)
c.87751G>C (p.Ala29251Pro)
c.69514G>C (p.Ala23172Pro)
c.59368G>C (p.Ala19790Pro)
2g.178543354C>TCA349446497TTN,TTN-AS1c.88915G>A (p.Ala29639Thr)
c.70000G>A (p.Ala23334Thr)
c.69799G>A (p.Ala23267Thr)
c.69424G>A (p.Ala23142Thr)
c.96619G>A (p.Ala32207Thr)
c.91696G>A (p.Ala30566Thr)
n.446+19718C>T
n.2043+993C>T
c.95716G>A (p.Ala31906Thr)
c.69610G>A (p.Ala23204Thr)
c.69469G>A (p.Ala23157Thr)
c.95512G>A (p.Ala31838Thr)
c.90910G>A (p.Ala30304Thr)
c.90907G>A (p.Ala30303Thr)
c.87949G>A (p.Ala29317Thr)
c.69565G>A (p.Ala23189Thr)
c.91060G>A (p.Ala30354Thr)
c.91057G>A (p.Ala30353Thr)
c.90490G>A (p.Ala30164Thr)
c.87832G>A (p.Ala29278Thr)
c.87751G>A (p.Ala29251Thr)
c.69514G>A (p.Ala23172Thr)
c.59368G>A (p.Ala19790Thr)
2g.178543355A=CA1310520663TTN,TTN-AS1c.88914T= (p.Pro29638=)
c.69999T= (p.Pro23333=)
c.69798T= (p.Pro23266=)
c.69423T= (p.Pro23141=)
c.96618T= (p.Pro32206=)
c.91695T= (p.Pro30565=)
n.446+19719A=
n.2043+994A=
c.95715T= (p.Pro31905=)
c.69609T= (p.Pro23203=)
c.69468T= (p.Pro23156=)
c.95511T= (p.Pro31837=)
c.90909T= (p.Pro30303=)
c.90906T= (p.Pro30302=)
c.87948T= (p.Pro29316=)
c.69564T= (p.Pro23188=)
c.91059T= (p.Pro30353=)
c.91056T= (p.Pro30352=)
c.90489T= (p.Pro30163=)
c.87831T= (p.Pro29277=)
c.87750T= (p.Pro29250=)
c.69513T= (p.Pro23171=)
c.59367T= (p.Pro19789=)
2g.178543355A>CCA430241479TTN,TTN-AS1c.88914T>G (p.Pro29638=)
c.69999T>G (p.Pro23333=)
c.69798T>G (p.Pro23266=)
c.69423T>G (p.Pro23141=)
c.96618T>G (p.Pro32206=)
c.91695T>G (p.Pro30565=)
n.446+19719A>C
n.2043+994A>C
c.95715T>G (p.Pro31905=)
c.69609T>G (p.Pro23203=)
c.69468T>G (p.Pro23156=)
c.95511T>G (p.Pro31837=)
c.90909T>G (p.Pro30303=)
c.90906T>G (p.Pro30302=)
c.87948T>G (p.Pro29316=)
c.69564T>G (p.Pro23188=)
c.91059T>G (p.Pro30353=)
c.91056T>G (p.Pro30352=)
c.90489T>G (p.Pro30163=)
c.87831T>G (p.Pro29277=)
c.87750T>G (p.Pro29250=)
c.69513T>G (p.Pro23171=)
c.59367T>G (p.Pro19789=)
2g.178543355A>GCA430241480TTN,TTN-AS1c.88914T>C (p.Pro29638=)
c.69999T>C (p.Pro23333=)
c.69798T>C (p.Pro23266=)
c.69423T>C (p.Pro23141=)
c.96618T>C (p.Pro32206=)
c.91695T>C (p.Pro30565=)
n.446+19719A>G
n.2043+994A>G
c.95715T>C (p.Pro31905=)
c.69609T>C (p.Pro23203=)
c.69468T>C (p.Pro23156=)
c.95511T>C (p.Pro31837=)
c.90909T>C (p.Pro30303=)
c.90906T>C (p.Pro30302=)
c.87948T>C (p.Pro29316=)
c.69564T>C (p.Pro23188=)
c.91059T>C (p.Pro30353=)
c.91056T>C (p.Pro30352=)
c.90489T>C (p.Pro30163=)
c.87831T>C (p.Pro29277=)
c.87750T>C (p.Pro29250=)
c.69513T>C (p.Pro23171=)
c.59367T>C (p.Pro19789=)
 ClinVar dbSNP
2g.178543355A>TCA430241483TTN,TTN-AS1c.88914T>A (p.Pro29638=)
c.69999T>A (p.Pro23333=)
c.69798T>A (p.Pro23266=)
c.69423T>A (p.Pro23141=)
c.96618T>A (p.Pro32206=)
c.91695T>A (p.Pro30565=)
n.446+19719A>T
n.2043+994A>T
c.95715T>A (p.Pro31905=)
c.69609T>A (p.Pro23203=)
c.69468T>A (p.Pro23156=)
c.95511T>A (p.Pro31837=)
c.90909T>A (p.Pro30303=)
c.90906T>A (p.Pro30302=)
c.87948T>A (p.Pro29316=)
c.69564T>A (p.Pro23188=)
c.91059T>A (p.Pro30353=)
c.91056T>A (p.Pro30352=)
c.90489T>A (p.Pro30163=)
c.87831T>A (p.Pro29277=)
c.87750T>A (p.Pro29250=)
c.69513T>A (p.Pro23171=)
c.59367T>A (p.Pro19789=)

Number of alleles fetched