Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178548755A=CA1310524624TTN,TTN-AS1c.85167T= (p.Ala28389=)
c.66252T= (p.Ala22084=)
c.66051T= (p.Ala22017=)
c.65676T= (p.Ala21892=)
c.92871T= (p.Ala30957=)
c.87948T= (p.Ala29316=)
n.447-22545A=
n.2043+6394A=
c.91968T= (p.Ala30656=)
c.65862T= (p.Ala21954=)
c.65721T= (p.Ala21907=)
c.91764T= (p.Ala30588=)
c.87162T= (p.Ala29054=)
c.87159T= (p.Ala29053=)
c.84201T= (p.Ala28067=)
c.65817T= (p.Ala21939=)
c.87312T= (p.Ala29104=)
c.87309T= (p.Ala29103=)
c.86742T= (p.Ala28914=)
c.84084T= (p.Ala28028=)
c.84003T= (p.Ala28001=)
c.65766T= (p.Ala21922=)
c.55620T= (p.Ala18540=)
2g.178548755A>CCA1987392TTN,TTN-AS1c.85167T>G (p.Ala28389=)
c.66252T>G (p.Ala22084=)
c.66051T>G (p.Ala22017=)
c.65676T>G (p.Ala21892=)
c.92871T>G (p.Ala30957=)
c.87948T>G (p.Ala29316=)
n.447-22545A>C
n.2043+6394A>C
c.91968T>G (p.Ala30656=)
c.65862T>G (p.Ala21954=)
c.65721T>G (p.Ala21907=)
c.91764T>G (p.Ala30588=)
c.87162T>G (p.Ala29054=)
c.87159T>G (p.Ala29053=)
c.84201T>G (p.Ala28067=)
c.65817T>G (p.Ala21939=)
c.87312T>G (p.Ala29104=)
c.87309T>G (p.Ala29103=)
c.86742T>G (p.Ala28914=)
c.84084T>G (p.Ala28028=)
c.84003T>G (p.Ala28001=)
c.65766T>G (p.Ala21922=)
c.55620T>G (p.Ala18540=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178548755A>GCA430243556TTN,TTN-AS1c.85167T>C (p.Ala28389=)
c.66252T>C (p.Ala22084=)
c.66051T>C (p.Ala22017=)
c.65676T>C (p.Ala21892=)
c.92871T>C (p.Ala30957=)
c.87948T>C (p.Ala29316=)
n.447-22545A>G
n.2043+6394A>G
c.91968T>C (p.Ala30656=)
c.65862T>C (p.Ala21954=)
c.65721T>C (p.Ala21907=)
c.91764T>C (p.Ala30588=)
c.87162T>C (p.Ala29054=)
c.87159T>C (p.Ala29053=)
c.84201T>C (p.Ala28067=)
c.65817T>C (p.Ala21939=)
c.87312T>C (p.Ala29104=)
c.87309T>C (p.Ala29103=)
c.86742T>C (p.Ala28914=)
c.84084T>C (p.Ala28028=)
c.84003T>C (p.Ala28001=)
c.65766T>C (p.Ala21922=)
c.55620T>C (p.Ala18540=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178548755A>TCA430243558TTN,TTN-AS1c.85167T>A (p.Ala28389=)
c.66252T>A (p.Ala22084=)
c.66051T>A (p.Ala22017=)
c.65676T>A (p.Ala21892=)
c.92871T>A (p.Ala30957=)
c.87948T>A (p.Ala29316=)
n.447-22545A>T
n.2043+6394A>T
c.91968T>A (p.Ala30656=)
c.65862T>A (p.Ala21954=)
c.65721T>A (p.Ala21907=)
c.91764T>A (p.Ala30588=)
c.87162T>A (p.Ala29054=)
c.87159T>A (p.Ala29053=)
c.84201T>A (p.Ala28067=)
c.65817T>A (p.Ala21939=)
c.87312T>A (p.Ala29104=)
c.87309T>A (p.Ala29103=)
c.86742T>A (p.Ala28914=)
c.84084T>A (p.Ala28028=)
c.84003T>A (p.Ala28001=)
c.65766T>A (p.Ala21922=)
c.55620T>A (p.Ala18540=)
2g.178548756G>ACA349490004TTN,TTN-AS1c.85166C>T (p.Ala28389Val)
c.66251C>T (p.Ala22084Val)
c.66050C>T (p.Ala22017Val)
c.65675C>T (p.Ala21892Val)
c.92870C>T (p.Ala30957Val)
c.87947C>T (p.Ala29316Val)
n.447-22544G>A
n.2043+6395G>A
c.91967C>T (p.Ala30656Val)
c.65861C>T (p.Ala21954Val)
c.65720C>T (p.Ala21907Val)
c.91763C>T (p.Ala30588Val)
c.87161C>T (p.Ala29054Val)
c.87158C>T (p.Ala29053Val)
c.84200C>T (p.Ala28067Val)
c.65816C>T (p.Ala21939Val)
c.87311C>T (p.Ala29104Val)
c.87308C>T (p.Ala29103Val)
c.86741C>T (p.Ala28914Val)
c.84083C>T (p.Ala28028Val)
c.84002C>T (p.Ala28001Val)
c.65765C>T (p.Ala21922Val)
c.55619C>T (p.Ala18540Val)
 gnomAD v4
2g.178548756G>CCA349490010TTN,TTN-AS1c.85166C>G (p.Ala28389Gly)
c.66251C>G (p.Ala22084Gly)
c.66050C>G (p.Ala22017Gly)
c.65675C>G (p.Ala21892Gly)
c.92870C>G (p.Ala30957Gly)
c.87947C>G (p.Ala29316Gly)
n.447-22544G>C
n.2043+6395G>C
c.91967C>G (p.Ala30656Gly)
c.65861C>G (p.Ala21954Gly)
c.65720C>G (p.Ala21907Gly)
c.91763C>G (p.Ala30588Gly)
c.87161C>G (p.Ala29054Gly)
c.87158C>G (p.Ala29053Gly)
c.84200C>G (p.Ala28067Gly)
c.65816C>G (p.Ala21939Gly)
c.87311C>G (p.Ala29104Gly)
c.87308C>G (p.Ala29103Gly)
c.86741C>G (p.Ala28914Gly)
c.84083C>G (p.Ala28028Gly)
c.84002C>G (p.Ala28001Gly)
c.65765C>G (p.Ala21922Gly)
c.55619C>G (p.Ala18540Gly)
2g.178548756G>TCA349490013TTN,TTN-AS1c.85166C>A (p.Ala28389Asp)
c.66251C>A (p.Ala22084Asp)
c.66050C>A (p.Ala22017Asp)
c.65675C>A (p.Ala21892Asp)
c.92870C>A (p.Ala30957Asp)
c.87947C>A (p.Ala29316Asp)
n.447-22544G>T
n.2043+6395G>T
c.91967C>A (p.Ala30656Asp)
c.65861C>A (p.Ala21954Asp)
c.65720C>A (p.Ala21907Asp)
c.91763C>A (p.Ala30588Asp)
c.87161C>A (p.Ala29054Asp)
c.87158C>A (p.Ala29053Asp)
c.84200C>A (p.Ala28067Asp)
c.65816C>A (p.Ala21939Asp)
c.87311C>A (p.Ala29104Asp)
c.87308C>A (p.Ala29103Asp)
c.86741C>A (p.Ala28914Asp)
c.84083C>A (p.Ala28028Asp)
c.84002C>A (p.Ala28001Asp)
c.65765C>A (p.Ala21922Asp)
c.55619C>A (p.Ala18540Asp)
2g.178548757C>ACA349490015TTN,TTN-AS1c.85165G>T (p.Ala28389Ser)
c.66250G>T (p.Ala22084Ser)
c.66049G>T (p.Ala22017Ser)
c.65674G>T (p.Ala21892Ser)
c.92869G>T (p.Ala30957Ser)
c.87946G>T (p.Ala29316Ser)
n.447-22543C>A
n.2043+6396C>A
c.91966G>T (p.Ala30656Ser)
c.65860G>T (p.Ala21954Ser)
c.65719G>T (p.Ala21907Ser)
c.91762G>T (p.Ala30588Ser)
c.87160G>T (p.Ala29054Ser)
c.87157G>T (p.Ala29053Ser)
c.84199G>T (p.Ala28067Ser)
c.65815G>T (p.Ala21939Ser)
c.87310G>T (p.Ala29104Ser)
c.87307G>T (p.Ala29103Ser)
c.86740G>T (p.Ala28914Ser)
c.84082G>T (p.Ala28028Ser)
c.84001G>T (p.Ala28001Ser)
c.65764G>T (p.Ala21922Ser)
c.55618G>T (p.Ala18540Ser)
2g.178548757C>GCA349490019TTN,TTN-AS1c.85165G>C (p.Ala28389Pro)
c.66250G>C (p.Ala22084Pro)
c.66049G>C (p.Ala22017Pro)
c.65674G>C (p.Ala21892Pro)
c.92869G>C (p.Ala30957Pro)
c.87946G>C (p.Ala29316Pro)
n.447-22543C>G
n.2043+6396C>G
c.91966G>C (p.Ala30656Pro)
c.65860G>C (p.Ala21954Pro)
c.65719G>C (p.Ala21907Pro)
c.91762G>C (p.Ala30588Pro)
c.87160G>C (p.Ala29054Pro)
c.87157G>C (p.Ala29053Pro)
c.84199G>C (p.Ala28067Pro)
c.65815G>C (p.Ala21939Pro)
c.87310G>C (p.Ala29104Pro)
c.87307G>C (p.Ala29103Pro)
c.86740G>C (p.Ala28914Pro)
c.84082G>C (p.Ala28028Pro)
c.84001G>C (p.Ala28001Pro)
c.65764G>C (p.Ala21922Pro)
c.55618G>C (p.Ala18540Pro)
2g.178548757C>TCA349490022TTN,TTN-AS1c.85165G>A (p.Ala28389Thr)
c.66250G>A (p.Ala22084Thr)
c.66049G>A (p.Ala22017Thr)
c.65674G>A (p.Ala21892Thr)
c.92869G>A (p.Ala30957Thr)
c.87946G>A (p.Ala29316Thr)
n.447-22543C>T
n.2043+6396C>T
c.91966G>A (p.Ala30656Thr)
c.65860G>A (p.Ala21954Thr)
c.65719G>A (p.Ala21907Thr)
c.91762G>A (p.Ala30588Thr)
c.87160G>A (p.Ala29054Thr)
c.87157G>A (p.Ala29053Thr)
c.84199G>A (p.Ala28067Thr)
c.65815G>A (p.Ala21939Thr)
c.87310G>A (p.Ala29104Thr)
c.87307G>A (p.Ala29103Thr)
c.86740G>A (p.Ala28914Thr)
c.84082G>A (p.Ala28028Thr)
c.84001G>A (p.Ala28001Thr)
c.65764G>A (p.Ala21922Thr)
c.55618G>A (p.Ala18540Thr)
2g.178548758T>ACA60974223TTN,TTN-AS1c.85164A>T (p.Thr28388=)
c.66249A>T (p.Thr22083=)
c.66048A>T (p.Thr22016=)
c.65673A>T (p.Thr21891=)
c.92868A>T (p.Thr30956=)
c.87945A>T (p.Thr29315=)
n.447-22542T>A
n.2043+6397T>A
c.91965A>T (p.Thr30655=)
c.65859A>T (p.Thr21953=)
c.65718A>T (p.Thr21906=)
c.91761A>T (p.Thr30587=)
c.87159A>T (p.Thr29053=)
c.87156A>T (p.Thr29052=)
c.84198A>T (p.Thr28066=)
c.65814A>T (p.Thr21938=)
c.87309A>T (p.Thr29103=)
c.87306A>T (p.Thr29102=)
c.86739A>T (p.Thr28913=)
c.84081A>T (p.Thr28027=)
c.84000A>T (p.Thr28000=)
c.65763A>T (p.Thr21921=)
c.55617A>T (p.Thr18539=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178548758T>CCA430243560TTN,TTN-AS1c.85164A>G (p.Thr28388=)
c.66249A>G (p.Thr22083=)
c.66048A>G (p.Thr22016=)
c.65673A>G (p.Thr21891=)
c.92868A>G (p.Thr30956=)
c.87945A>G (p.Thr29315=)
n.447-22542T>C
n.2043+6397T>C
c.91965A>G (p.Thr30655=)
c.65859A>G (p.Thr21953=)
c.65718A>G (p.Thr21906=)
c.91761A>G (p.Thr30587=)
c.87159A>G (p.Thr29053=)
c.87156A>G (p.Thr29052=)
c.84198A>G (p.Thr28066=)
c.65814A>G (p.Thr21938=)
c.87309A>G (p.Thr29103=)
c.87306A>G (p.Thr29102=)
c.86739A>G (p.Thr28913=)
c.84081A>G (p.Thr28027=)
c.84000A>G (p.Thr28000=)
c.65763A>G (p.Thr21921=)
c.55617A>G (p.Thr18539=)
2g.178548758T>GCA430243561TTN,TTN-AS1c.85164A>C (p.Thr28388=)
c.66249A>C (p.Thr22083=)
c.66048A>C (p.Thr22016=)
c.65673A>C (p.Thr21891=)
c.92868A>C (p.Thr30956=)
c.87945A>C (p.Thr29315=)
n.447-22542T>G
n.2043+6397T>G
c.91965A>C (p.Thr30655=)
c.65859A>C (p.Thr21953=)
c.65718A>C (p.Thr21906=)
c.91761A>C (p.Thr30587=)
c.87159A>C (p.Thr29053=)
c.87156A>C (p.Thr29052=)
c.84198A>C (p.Thr28066=)
c.65814A>C (p.Thr21938=)
c.87309A>C (p.Thr29103=)
c.87306A>C (p.Thr29102=)
c.86739A>C (p.Thr28913=)
c.84081A>C (p.Thr28027=)
c.84000A>C (p.Thr28000=)
c.65763A>C (p.Thr21921=)
c.55617A>C (p.Thr18539=)
2g.178548758T=CA1310524625TTN,TTN-AS1c.85164A= (p.Thr28388=)
c.66249A= (p.Thr22083=)
c.66048A= (p.Thr22016=)
c.65673A= (p.Thr21891=)
c.92868A= (p.Thr30956=)
c.87945A= (p.Thr29315=)
n.447-22542T=
n.2043+6397T=
c.91965A= (p.Thr30655=)
c.65859A= (p.Thr21953=)
c.65718A= (p.Thr21906=)
c.91761A= (p.Thr30587=)
c.87159A= (p.Thr29053=)
c.87156A= (p.Thr29052=)
c.84198A= (p.Thr28066=)
c.65814A= (p.Thr21938=)
c.87309A= (p.Thr29103=)
c.87306A= (p.Thr29102=)
c.86739A= (p.Thr28913=)
c.84081A= (p.Thr28027=)
c.84000A= (p.Thr28000=)
c.65763A= (p.Thr21921=)
c.55617A= (p.Thr18539=)
2g.178548759G>ACA349490041TTN,TTN-AS1c.85163C>T (p.Thr28388Ile)
c.66248C>T (p.Thr22083Ile)
c.66047C>T (p.Thr22016Ile)
c.65672C>T (p.Thr21891Ile)
c.92867C>T (p.Thr30956Ile)
c.87944C>T (p.Thr29315Ile)
n.447-22541G>A
n.2043+6398G>A
c.91964C>T (p.Thr30655Ile)
c.65858C>T (p.Thr21953Ile)
c.65717C>T (p.Thr21906Ile)
c.91760C>T (p.Thr30587Ile)
c.87158C>T (p.Thr29053Ile)
c.87155C>T (p.Thr29052Ile)
c.84197C>T (p.Thr28066Ile)
c.65813C>T (p.Thr21938Ile)
c.87308C>T (p.Thr29103Ile)
c.87305C>T (p.Thr29102Ile)
c.86738C>T (p.Thr28913Ile)
c.84080C>T (p.Thr28027Ile)
c.83999C>T (p.Thr28000Ile)
c.65762C>T (p.Thr21921Ile)
c.55616C>T (p.Thr18539Ile)
2g.178548759G>CCA349490040TTN,TTN-AS1c.85163C>G (p.Thr28388Arg)
c.66248C>G (p.Thr22083Arg)
c.66047C>G (p.Thr22016Arg)
c.65672C>G (p.Thr21891Arg)
c.92867C>G (p.Thr30956Arg)
c.87944C>G (p.Thr29315Arg)
n.447-22541G>C
n.2043+6398G>C
c.91964C>G (p.Thr30655Arg)
c.65858C>G (p.Thr21953Arg)
c.65717C>G (p.Thr21906Arg)
c.91760C>G (p.Thr30587Arg)
c.87158C>G (p.Thr29053Arg)
c.87155C>G (p.Thr29052Arg)
c.84197C>G (p.Thr28066Arg)
c.65813C>G (p.Thr21938Arg)
c.87308C>G (p.Thr29103Arg)
c.87305C>G (p.Thr29102Arg)
c.86738C>G (p.Thr28913Arg)
c.84080C>G (p.Thr28027Arg)
c.83999C>G (p.Thr28000Arg)
c.65762C>G (p.Thr21921Arg)
c.55616C>G (p.Thr18539Arg)
2g.178548759G>TCA349490036TTN,TTN-AS1c.85163C>A (p.Thr28388Lys)
c.66248C>A (p.Thr22083Lys)
c.66047C>A (p.Thr22016Lys)
c.65672C>A (p.Thr21891Lys)
c.92867C>A (p.Thr30956Lys)
c.87944C>A (p.Thr29315Lys)
n.447-22541G>T
n.2043+6398G>T
c.91964C>A (p.Thr30655Lys)
c.65858C>A (p.Thr21953Lys)
c.65717C>A (p.Thr21906Lys)
c.91760C>A (p.Thr30587Lys)
c.87158C>A (p.Thr29053Lys)
c.87155C>A (p.Thr29052Lys)
c.84197C>A (p.Thr28066Lys)
c.65813C>A (p.Thr21938Lys)
c.87308C>A (p.Thr29103Lys)
c.87305C>A (p.Thr29102Lys)
c.86738C>A (p.Thr28913Lys)
c.84080C>A (p.Thr28027Lys)
c.83999C>A (p.Thr28000Lys)
c.65762C>A (p.Thr21921Lys)
c.55616C>A (p.Thr18539Lys)
2g.178548760T>ACA349490048TTN,TTN-AS1c.85162A>T (p.Thr28388Ser)
c.66247A>T (p.Thr22083Ser)
c.66046A>T (p.Thr22016Ser)
c.65671A>T (p.Thr21891Ser)
c.92866A>T (p.Thr30956Ser)
c.87943A>T (p.Thr29315Ser)
n.447-22540T>A
n.2043+6399T>A
c.91963A>T (p.Thr30655Ser)
c.65857A>T (p.Thr21953Ser)
c.65716A>T (p.Thr21906Ser)
c.91759A>T (p.Thr30587Ser)
c.87157A>T (p.Thr29053Ser)
c.87154A>T (p.Thr29052Ser)
c.84196A>T (p.Thr28066Ser)
c.65812A>T (p.Thr21938Ser)
c.87307A>T (p.Thr29103Ser)
c.87304A>T (p.Thr29102Ser)
c.86737A>T (p.Thr28913Ser)
c.84079A>T (p.Thr28027Ser)
c.83998A>T (p.Thr28000Ser)
c.65761A>T (p.Thr21921Ser)
c.55615A>T (p.Thr18539Ser)
2g.178548760T>CCA349490045TTN,TTN-AS1c.85162A>G (p.Thr28388Ala)
c.66247A>G (p.Thr22083Ala)
c.66046A>G (p.Thr22016Ala)
c.65671A>G (p.Thr21891Ala)
c.92866A>G (p.Thr30956Ala)
c.87943A>G (p.Thr29315Ala)
n.447-22540T>C
n.2043+6399T>C
c.91963A>G (p.Thr30655Ala)
c.65857A>G (p.Thr21953Ala)
c.65716A>G (p.Thr21906Ala)
c.91759A>G (p.Thr30587Ala)
c.87157A>G (p.Thr29053Ala)
c.87154A>G (p.Thr29052Ala)
c.84196A>G (p.Thr28066Ala)
c.65812A>G (p.Thr21938Ala)
c.87307A>G (p.Thr29103Ala)
c.87304A>G (p.Thr29102Ala)
c.86737A>G (p.Thr28913Ala)
c.84079A>G (p.Thr28027Ala)
c.83998A>G (p.Thr28000Ala)
c.65761A>G (p.Thr21921Ala)
c.55615A>G (p.Thr18539Ala)
 dbSNP
2g.178548760T>GCA349490052TTN,TTN-AS1c.85162A>C (p.Thr28388Pro)
c.66247A>C (p.Thr22083Pro)
c.66046A>C (p.Thr22016Pro)
c.65671A>C (p.Thr21891Pro)
c.92866A>C (p.Thr30956Pro)
c.87943A>C (p.Thr29315Pro)
n.447-22540T>G
n.2043+6399T>G
c.91963A>C (p.Thr30655Pro)
c.65857A>C (p.Thr21953Pro)
c.65716A>C (p.Thr21906Pro)
c.91759A>C (p.Thr30587Pro)
c.87157A>C (p.Thr29053Pro)
c.87154A>C (p.Thr29052Pro)
c.84196A>C (p.Thr28066Pro)
c.65812A>C (p.Thr21938Pro)
c.87307A>C (p.Thr29103Pro)
c.87304A>C (p.Thr29102Pro)
c.86737A>C (p.Thr28913Pro)
c.84079A>C (p.Thr28027Pro)
c.83998A>C (p.Thr28000Pro)
c.65761A>C (p.Thr21921Pro)
c.55615A>C (p.Thr18539Pro)
2g.178548760T=CA1310524626TTN,TTN-AS1c.85162A= (p.Thr28388=)
c.66247A= (p.Thr22083=)
c.66046A= (p.Thr22016=)
c.65671A= (p.Thr21891=)
c.92866A= (p.Thr30956=)
c.87943A= (p.Thr29315=)
n.447-22540T=
n.2043+6399T=
c.91963A= (p.Thr30655=)
c.65857A= (p.Thr21953=)
c.65716A= (p.Thr21906=)
c.91759A= (p.Thr30587=)
c.87157A= (p.Thr29053=)
c.87154A= (p.Thr29052=)
c.84196A= (p.Thr28066=)
c.65812A= (p.Thr21938=)
c.87307A= (p.Thr29103=)
c.87304A= (p.Thr29102=)
c.86737A= (p.Thr28913=)
c.84079A= (p.Thr28027=)
c.83998A= (p.Thr28000=)
c.65761A= (p.Thr21921=)
c.55615A= (p.Thr18539=)
2g.178548761A=CA1310524627TTN,TTN-AS1c.85161T= (p.Pro28387=)
c.66246T= (p.Pro22082=)
c.66045T= (p.Pro22015=)
c.65670T= (p.Pro21890=)
c.92865T= (p.Pro30955=)
c.87942T= (p.Pro29314=)
n.447-22539A=
n.2043+6400A=
c.91962T= (p.Pro30654=)
c.65856T= (p.Pro21952=)
c.65715T= (p.Pro21905=)
c.91758T= (p.Pro30586=)
c.87156T= (p.Pro29052=)
c.87153T= (p.Pro29051=)
c.84195T= (p.Pro28065=)
c.65811T= (p.Pro21937=)
c.87306T= (p.Pro29102=)
c.87303T= (p.Pro29101=)
c.86736T= (p.Pro28912=)
c.84078T= (p.Pro28026=)
c.83997T= (p.Pro27999=)
c.65760T= (p.Pro21920=)
c.55614T= (p.Pro18538=)
2g.178548761A>CCA430243565TTN,TTN-AS1c.85161T>G (p.Pro28387=)
c.66246T>G (p.Pro22082=)
c.66045T>G (p.Pro22015=)
c.65670T>G (p.Pro21890=)
c.92865T>G (p.Pro30955=)
c.87942T>G (p.Pro29314=)
n.447-22539A>C
n.2043+6400A>C
c.91962T>G (p.Pro30654=)
c.65856T>G (p.Pro21952=)
c.65715T>G (p.Pro21905=)
c.91758T>G (p.Pro30586=)
c.87156T>G (p.Pro29052=)
c.87153T>G (p.Pro29051=)
c.84195T>G (p.Pro28065=)
c.65811T>G (p.Pro21937=)
c.87306T>G (p.Pro29102=)
c.87303T>G (p.Pro29101=)
c.86736T>G (p.Pro28912=)
c.84078T>G (p.Pro28026=)
c.83997T>G (p.Pro27999=)
c.65760T>G (p.Pro21920=)
c.55614T>G (p.Pro18538=)
2g.178548761A>GCA430243566TTN,TTN-AS1c.85161T>C (p.Pro28387=)
c.66246T>C (p.Pro22082=)
c.66045T>C (p.Pro22015=)
c.65670T>C (p.Pro21890=)
c.92865T>C (p.Pro30955=)
c.87942T>C (p.Pro29314=)
n.447-22539A>G
n.2043+6400A>G
c.91962T>C (p.Pro30654=)
c.65856T>C (p.Pro21952=)
c.65715T>C (p.Pro21905=)
c.91758T>C (p.Pro30586=)
c.87156T>C (p.Pro29052=)
c.87153T>C (p.Pro29051=)
c.84195T>C (p.Pro28065=)
c.65811T>C (p.Pro21937=)
c.87306T>C (p.Pro29102=)
c.87303T>C (p.Pro29101=)
c.86736T>C (p.Pro28912=)
c.84078T>C (p.Pro28026=)
c.83997T>C (p.Pro27999=)
c.65760T>C (p.Pro21920=)
c.55614T>C (p.Pro18538=)
 dbSNP gnomAD v4
2g.178548761A>TCA430243567TTN,TTN-AS1c.85161T>A (p.Pro28387=)
c.66246T>A (p.Pro22082=)
c.66045T>A (p.Pro22015=)
c.65670T>A (p.Pro21890=)
c.92865T>A (p.Pro30955=)
c.87942T>A (p.Pro29314=)
n.447-22539A>T
n.2043+6400A>T
c.91962T>A (p.Pro30654=)
c.65856T>A (p.Pro21952=)
c.65715T>A (p.Pro21905=)
c.91758T>A (p.Pro30586=)
c.87156T>A (p.Pro29052=)
c.87153T>A (p.Pro29051=)
c.84195T>A (p.Pro28065=)
c.65811T>A (p.Pro21937=)
c.87306T>A (p.Pro29102=)
c.87303T>A (p.Pro29101=)
c.86736T>A (p.Pro28912=)
c.84078T>A (p.Pro28026=)
c.83997T>A (p.Pro27999=)
c.65760T>A (p.Pro21920=)
c.55614T>A (p.Pro18538=)
2g.178548762G>ACA349490055TTN,TTN-AS1c.85160C>T (p.Pro28387Leu)
c.66245C>T (p.Pro22082Leu)
c.66044C>T (p.Pro22015Leu)
c.65669C>T (p.Pro21890Leu)
c.92864C>T (p.Pro30955Leu)
c.87941C>T (p.Pro29314Leu)
n.447-22538G>A
n.2043+6401G>A
c.91961C>T (p.Pro30654Leu)
c.65855C>T (p.Pro21952Leu)
c.65714C>T (p.Pro21905Leu)
c.91757C>T (p.Pro30586Leu)
c.87155C>T (p.Pro29052Leu)
c.87152C>T (p.Pro29051Leu)
c.84194C>T (p.Pro28065Leu)
c.65810C>T (p.Pro21937Leu)
c.87305C>T (p.Pro29102Leu)
c.87302C>T (p.Pro29101Leu)
c.86735C>T (p.Pro28912Leu)
c.84077C>T (p.Pro28026Leu)
c.83996C>T (p.Pro27999Leu)
c.65759C>T (p.Pro21920Leu)
c.55613C>T (p.Pro18538Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178548762G>CCA349490061TTN,TTN-AS1c.85160C>G (p.Pro28387Arg)
c.66245C>G (p.Pro22082Arg)
c.66044C>G (p.Pro22015Arg)
c.65669C>G (p.Pro21890Arg)
c.92864C>G (p.Pro30955Arg)
c.87941C>G (p.Pro29314Arg)
n.447-22538G>C
n.2043+6401G>C
c.91961C>G (p.Pro30654Arg)
c.65855C>G (p.Pro21952Arg)
c.65714C>G (p.Pro21905Arg)
c.91757C>G (p.Pro30586Arg)
c.87155C>G (p.Pro29052Arg)
c.87152C>G (p.Pro29051Arg)
c.84194C>G (p.Pro28065Arg)
c.65810C>G (p.Pro21937Arg)
c.87305C>G (p.Pro29102Arg)
c.87302C>G (p.Pro29101Arg)
c.86735C>G (p.Pro28912Arg)
c.84077C>G (p.Pro28026Arg)
c.83996C>G (p.Pro27999Arg)
c.65759C>G (p.Pro21920Arg)
c.55613C>G (p.Pro18538Arg)
2g.178548762G=CA1310524628TTN,TTN-AS1c.85160C= (p.Pro28387=)
c.66245C= (p.Pro22082=)
c.66044C= (p.Pro22015=)
c.65669C= (p.Pro21890=)
c.92864C= (p.Pro30955=)
c.87941C= (p.Pro29314=)
n.447-22538G=
n.2043+6401G=
c.91961C= (p.Pro30654=)
c.65855C= (p.Pro21952=)
c.65714C= (p.Pro21905=)
c.91757C= (p.Pro30586=)
c.87155C= (p.Pro29052=)
c.87152C= (p.Pro29051=)
c.84194C= (p.Pro28065=)
c.65810C= (p.Pro21937=)
c.87305C= (p.Pro29102=)
c.87302C= (p.Pro29101=)
c.86735C= (p.Pro28912=)
c.84077C= (p.Pro28026=)
c.83996C= (p.Pro27999=)
c.65759C= (p.Pro21920=)
c.55613C= (p.Pro18538=)
2g.178548762G>TCA349490060TTN,TTN-AS1c.85160C>A (p.Pro28387His)
c.66245C>A (p.Pro22082His)
c.66044C>A (p.Pro22015His)
c.65669C>A (p.Pro21890His)
c.92864C>A (p.Pro30955His)
c.87941C>A (p.Pro29314His)
n.447-22538G>T
n.2043+6401G>T
c.91961C>A (p.Pro30654His)
c.65855C>A (p.Pro21952His)
c.65714C>A (p.Pro21905His)
c.91757C>A (p.Pro30586His)
c.87155C>A (p.Pro29052His)
c.87152C>A (p.Pro29051His)
c.84194C>A (p.Pro28065His)
c.65810C>A (p.Pro21937His)
c.87305C>A (p.Pro29102His)
c.87302C>A (p.Pro29101His)
c.86735C>A (p.Pro28912His)
c.84077C>A (p.Pro28026His)
c.83996C>A (p.Pro27999His)
c.65759C>A (p.Pro21920His)
c.55613C>A (p.Pro18538His)
2g.178548763G>ACA349490082TTN,TTN-AS1c.85159C>T (p.Pro28387Ser)
c.66244C>T (p.Pro22082Ser)
c.66043C>T (p.Pro22015Ser)
c.65668C>T (p.Pro21890Ser)
c.92863C>T (p.Pro30955Ser)
c.87940C>T (p.Pro29314Ser)
n.447-22537G>A
n.2043+6402G>A
c.91960C>T (p.Pro30654Ser)
c.65854C>T (p.Pro21952Ser)
c.65713C>T (p.Pro21905Ser)
c.91756C>T (p.Pro30586Ser)
c.87154C>T (p.Pro29052Ser)
c.87151C>T (p.Pro29051Ser)
c.84193C>T (p.Pro28065Ser)
c.65809C>T (p.Pro21937Ser)
c.87304C>T (p.Pro29102Ser)
c.87301C>T (p.Pro29101Ser)
c.86734C>T (p.Pro28912Ser)
c.84076C>T (p.Pro28026Ser)
c.83995C>T (p.Pro27999Ser)
c.65758C>T (p.Pro21920Ser)
c.55612C>T (p.Pro18538Ser)
2g.178548763G>CCA349490091TTN,TTN-AS1c.85159C>G (p.Pro28387Ala)
c.66244C>G (p.Pro22082Ala)
c.66043C>G (p.Pro22015Ala)
c.65668C>G (p.Pro21890Ala)
c.92863C>G (p.Pro30955Ala)
c.87940C>G (p.Pro29314Ala)
n.447-22537G>C
n.2043+6402G>C
c.91960C>G (p.Pro30654Ala)
c.65854C>G (p.Pro21952Ala)
c.65713C>G (p.Pro21905Ala)
c.91756C>G (p.Pro30586Ala)
c.87154C>G (p.Pro29052Ala)
c.87151C>G (p.Pro29051Ala)
c.84193C>G (p.Pro28065Ala)
c.65809C>G (p.Pro21937Ala)
c.87304C>G (p.Pro29102Ala)
c.87301C>G (p.Pro29101Ala)
c.86734C>G (p.Pro28912Ala)
c.84076C>G (p.Pro28026Ala)
c.83995C>G (p.Pro27999Ala)
c.65758C>G (p.Pro21920Ala)
c.55612C>G (p.Pro18538Ala)
2g.178548763G=CA1310524629TTN,TTN-AS1c.85159C= (p.Pro28387=)
c.66244C= (p.Pro22082=)
c.66043C= (p.Pro22015=)
c.65668C= (p.Pro21890=)
c.92863C= (p.Pro30955=)
c.87940C= (p.Pro29314=)
n.447-22537G=
n.2043+6402G=
c.91960C= (p.Pro30654=)
c.65854C= (p.Pro21952=)
c.65713C= (p.Pro21905=)
c.91756C= (p.Pro30586=)
c.87154C= (p.Pro29052=)
c.87151C= (p.Pro29051=)
c.84193C= (p.Pro28065=)
c.65809C= (p.Pro21937=)
c.87304C= (p.Pro29102=)
c.87301C= (p.Pro29101=)
c.86734C= (p.Pro28912=)
c.84076C= (p.Pro28026=)
c.83995C= (p.Pro27999=)
c.65758C= (p.Pro21920=)
c.55612C= (p.Pro18538=)
2g.178548763G>TCA349490088TTN,TTN-AS1c.85159C>A (p.Pro28387Thr)
c.66244C>A (p.Pro22082Thr)
c.66043C>A (p.Pro22015Thr)
c.65668C>A (p.Pro21890Thr)
c.92863C>A (p.Pro30955Thr)
c.87940C>A (p.Pro29314Thr)
n.447-22537G>T
n.2043+6402G>T
c.91960C>A (p.Pro30654Thr)
c.65854C>A (p.Pro21952Thr)
c.65713C>A (p.Pro21905Thr)
c.91756C>A (p.Pro30586Thr)
c.87154C>A (p.Pro29052Thr)
c.87151C>A (p.Pro29051Thr)
c.84193C>A (p.Pro28065Thr)
c.65809C>A (p.Pro21937Thr)
c.87304C>A (p.Pro29102Thr)
c.87301C>A (p.Pro29101Thr)
c.86734C>A (p.Pro28912Thr)
c.84076C>A (p.Pro28026Thr)
c.83995C>A (p.Pro27999Thr)
c.65758C>A (p.Pro21920Thr)
c.55612C>A (p.Pro18538Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178548764A>CCA430243569TTN,TTN-AS1c.85158T>G (p.Thr28386=)
c.66243T>G (p.Thr22081=)
c.66042T>G (p.Thr22014=)
c.65667T>G (p.Thr21889=)
c.92862T>G (p.Thr30954=)
c.87939T>G (p.Thr29313=)
n.447-22536A>C
n.2043+6403A>C
c.91959T>G (p.Thr30653=)
c.65853T>G (p.Thr21951=)
c.65712T>G (p.Thr21904=)
c.91755T>G (p.Thr30585=)
c.87153T>G (p.Thr29051=)
c.87150T>G (p.Thr29050=)
c.84192T>G (p.Thr28064=)
c.65808T>G (p.Thr21936=)
c.87303T>G (p.Thr29101=)
c.87300T>G (p.Thr29100=)
c.86733T>G (p.Thr28911=)
c.84075T>G (p.Thr28025=)
c.83994T>G (p.Thr27998=)
c.65757T>G (p.Thr21919=)
c.55611T>G (p.Thr18537=)
2g.178548764A>GCA430243571TTN,TTN-AS1c.85158T>C (p.Thr28386=)
c.66243T>C (p.Thr22081=)
c.66042T>C (p.Thr22014=)
c.65667T>C (p.Thr21889=)
c.92862T>C (p.Thr30954=)
c.87939T>C (p.Thr29313=)
n.447-22536A>G
n.2043+6403A>G
c.91959T>C (p.Thr30653=)
c.65853T>C (p.Thr21951=)
c.65712T>C (p.Thr21904=)
c.91755T>C (p.Thr30585=)
c.87153T>C (p.Thr29051=)
c.87150T>C (p.Thr29050=)
c.84192T>C (p.Thr28064=)
c.65808T>C (p.Thr21936=)
c.87303T>C (p.Thr29101=)
c.87300T>C (p.Thr29100=)
c.86733T>C (p.Thr28911=)
c.84075T>C (p.Thr28025=)
c.83994T>C (p.Thr27998=)
c.65757T>C (p.Thr21919=)
c.55611T>C (p.Thr18537=)
2g.178548764A>TCA430243574TTN,TTN-AS1c.85158T>A (p.Thr28386=)
c.66243T>A (p.Thr22081=)
c.66042T>A (p.Thr22014=)
c.65667T>A (p.Thr21889=)
c.92862T>A (p.Thr30954=)
c.87939T>A (p.Thr29313=)
n.447-22536A>T
n.2043+6403A>T
c.91959T>A (p.Thr30653=)
c.65853T>A (p.Thr21951=)
c.65712T>A (p.Thr21904=)
c.91755T>A (p.Thr30585=)
c.87153T>A (p.Thr29051=)
c.87150T>A (p.Thr29050=)
c.84192T>A (p.Thr28064=)
c.65808T>A (p.Thr21936=)
c.87303T>A (p.Thr29101=)
c.87300T>A (p.Thr29100=)
c.86733T>A (p.Thr28911=)
c.84075T>A (p.Thr28025=)
c.83994T>A (p.Thr27998=)
c.65757T>A (p.Thr21919=)
c.55611T>A (p.Thr18537=)
2g.178548765G>ACA1987393TTN,TTN-AS1c.85157C>T (p.Thr28386Ile)
c.66242C>T (p.Thr22081Ile)
c.66041C>T (p.Thr22014Ile)
c.65666C>T (p.Thr21889Ile)
c.92861C>T (p.Thr30954Ile)
c.87938C>T (p.Thr29313Ile)
n.447-22535G>A
n.2043+6404G>A
c.91958C>T (p.Thr30653Ile)
c.65852C>T (p.Thr21951Ile)
c.65711C>T (p.Thr21904Ile)
c.91754C>T (p.Thr30585Ile)
c.87152C>T (p.Thr29051Ile)
c.87149C>T (p.Thr29050Ile)
c.84191C>T (p.Thr28064Ile)
c.65807C>T (p.Thr21936Ile)
c.87302C>T (p.Thr29101Ile)
c.87299C>T (p.Thr29100Ile)
c.86732C>T (p.Thr28911Ile)
c.84074C>T (p.Thr28025Ile)
c.83993C>T (p.Thr27998Ile)
c.65756C>T (p.Thr21919Ile)
c.55610C>T (p.Thr18537Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178548765G>CCA349490105TTN,TTN-AS1c.85157C>G (p.Thr28386Ser)
c.66242C>G (p.Thr22081Ser)
c.66041C>G (p.Thr22014Ser)
c.65666C>G (p.Thr21889Ser)
c.92861C>G (p.Thr30954Ser)
c.87938C>G (p.Thr29313Ser)
n.447-22535G>C
n.2043+6404G>C
c.91958C>G (p.Thr30653Ser)
c.65852C>G (p.Thr21951Ser)
c.65711C>G (p.Thr21904Ser)
c.91754C>G (p.Thr30585Ser)
c.87152C>G (p.Thr29051Ser)
c.87149C>G (p.Thr29050Ser)
c.84191C>G (p.Thr28064Ser)
c.65807C>G (p.Thr21936Ser)
c.87302C>G (p.Thr29101Ser)
c.87299C>G (p.Thr29100Ser)
c.86732C>G (p.Thr28911Ser)
c.84074C>G (p.Thr28025Ser)
c.83993C>G (p.Thr27998Ser)
c.65756C>G (p.Thr21919Ser)
c.55610C>G (p.Thr18537Ser)
2g.178548765G=CA1310524630TTN,TTN-AS1c.85157C= (p.Thr28386=)
c.66242C= (p.Thr22081=)
c.66041C= (p.Thr22014=)
c.65666C= (p.Thr21889=)
c.92861C= (p.Thr30954=)
c.87938C= (p.Thr29313=)
n.447-22535G=
n.2043+6404G=
c.91958C= (p.Thr30653=)
c.65852C= (p.Thr21951=)
c.65711C= (p.Thr21904=)
c.91754C= (p.Thr30585=)
c.87152C= (p.Thr29051=)
c.87149C= (p.Thr29050=)
c.84191C= (p.Thr28064=)
c.65807C= (p.Thr21936=)
c.87302C= (p.Thr29101=)
c.87299C= (p.Thr29100=)
c.86732C= (p.Thr28911=)
c.84074C= (p.Thr28025=)
c.83993C= (p.Thr27998=)
c.65756C= (p.Thr21919=)
c.55610C= (p.Thr18537=)
2g.178548765G>TCA349490102TTN,TTN-AS1c.85157C>A (p.Thr28386Asn)
c.66242C>A (p.Thr22081Asn)
c.66041C>A (p.Thr22014Asn)
c.65666C>A (p.Thr21889Asn)
c.92861C>A (p.Thr30954Asn)
c.87938C>A (p.Thr29313Asn)
n.447-22535G>T
n.2043+6404G>T
c.91958C>A (p.Thr30653Asn)
c.65852C>A (p.Thr21951Asn)
c.65711C>A (p.Thr21904Asn)
c.91754C>A (p.Thr30585Asn)
c.87152C>A (p.Thr29051Asn)
c.87149C>A (p.Thr29050Asn)
c.84191C>A (p.Thr28064Asn)
c.65807C>A (p.Thr21936Asn)
c.87302C>A (p.Thr29101Asn)
c.87299C>A (p.Thr29100Asn)
c.86732C>A (p.Thr28911Asn)
c.84074C>A (p.Thr28025Asn)
c.83993C>A (p.Thr27998Asn)
c.65756C>A (p.Thr21919Asn)
c.55610C>A (p.Thr18537Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178548766T>ACA1987394TTN,TTN-AS1c.85156A>T (p.Thr28386Ser)
c.66241A>T (p.Thr22081Ser)
c.66040A>T (p.Thr22014Ser)
c.65665A>T (p.Thr21889Ser)
c.92860A>T (p.Thr30954Ser)
c.87937A>T (p.Thr29313Ser)
n.447-22534T>A
n.2043+6405T>A
c.91957A>T (p.Thr30653Ser)
c.65851A>T (p.Thr21951Ser)
c.65710A>T (p.Thr21904Ser)
c.91753A>T (p.Thr30585Ser)
c.87151A>T (p.Thr29051Ser)
c.87148A>T (p.Thr29050Ser)
c.84190A>T (p.Thr28064Ser)
c.65806A>T (p.Thr21936Ser)
c.87301A>T (p.Thr29101Ser)
c.87298A>T (p.Thr29100Ser)
c.86731A>T (p.Thr28911Ser)
c.84073A>T (p.Thr28025Ser)
c.83992A>T (p.Thr27998Ser)
c.65755A>T (p.Thr21919Ser)
c.55609A>T (p.Thr18537Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178548766T>CCA349490120TTN,TTN-AS1c.85156A>G (p.Thr28386Ala)
c.66241A>G (p.Thr22081Ala)
c.66040A>G (p.Thr22014Ala)
c.65665A>G (p.Thr21889Ala)
c.92860A>G (p.Thr30954Ala)
c.87937A>G (p.Thr29313Ala)
n.447-22534T>C
n.2043+6405T>C
c.91957A>G (p.Thr30653Ala)
c.65851A>G (p.Thr21951Ala)
c.65710A>G (p.Thr21904Ala)
c.91753A>G (p.Thr30585Ala)
c.87151A>G (p.Thr29051Ala)
c.87148A>G (p.Thr29050Ala)
c.84190A>G (p.Thr28064Ala)
c.65806A>G (p.Thr21936Ala)
c.87301A>G (p.Thr29101Ala)
c.87298A>G (p.Thr29100Ala)
c.86731A>G (p.Thr28911Ala)
c.84073A>G (p.Thr28025Ala)
c.83992A>G (p.Thr27998Ala)
c.65755A>G (p.Thr21919Ala)
c.55609A>G (p.Thr18537Ala)
2g.178548766T>GCA349490113TTN,TTN-AS1c.85156A>C (p.Thr28386Pro)
c.66241A>C (p.Thr22081Pro)
c.66040A>C (p.Thr22014Pro)
c.65665A>C (p.Thr21889Pro)
c.92860A>C (p.Thr30954Pro)
c.87937A>C (p.Thr29313Pro)
n.447-22534T>G
n.2043+6405T>G
c.91957A>C (p.Thr30653Pro)
c.65851A>C (p.Thr21951Pro)
c.65710A>C (p.Thr21904Pro)
c.91753A>C (p.Thr30585Pro)
c.87151A>C (p.Thr29051Pro)
c.87148A>C (p.Thr29050Pro)
c.84190A>C (p.Thr28064Pro)
c.65806A>C (p.Thr21936Pro)
c.87301A>C (p.Thr29101Pro)
c.87298A>C (p.Thr29100Pro)
c.86731A>C (p.Thr28911Pro)
c.84073A>C (p.Thr28025Pro)
c.83992A>C (p.Thr27998Pro)
c.65755A>C (p.Thr21919Pro)
c.55609A>C (p.Thr18537Pro)
 dbSNP
2g.178548766T=CA1310524631TTN,TTN-AS1c.85156A= (p.Thr28386=)
c.66241A= (p.Thr22081=)
c.66040A= (p.Thr22014=)
c.65665A= (p.Thr21889=)
c.92860A= (p.Thr30954=)
c.87937A= (p.Thr29313=)
n.447-22534T=
n.2043+6405T=
c.91957A= (p.Thr30653=)
c.65851A= (p.Thr21951=)
c.65710A= (p.Thr21904=)
c.91753A= (p.Thr30585=)
c.87151A= (p.Thr29051=)
c.87148A= (p.Thr29050=)
c.84190A= (p.Thr28064=)
c.65806A= (p.Thr21936=)
c.87301A= (p.Thr29101=)
c.87298A= (p.Thr29100=)
c.86731A= (p.Thr28911=)
c.84073A= (p.Thr28025=)
c.83992A= (p.Thr27998=)
c.65755A= (p.Thr21919=)
c.55609A= (p.Thr18537=)
2g.178548767A>CCA430243577TTN,TTN-AS1c.85155T>G (p.Pro28385=)
c.66240T>G (p.Pro22080=)
c.66039T>G (p.Pro22013=)
c.65664T>G (p.Pro21888=)
c.92859T>G (p.Pro30953=)
c.87936T>G (p.Pro29312=)
n.447-22533A>C
n.2043+6406A>C
c.91956T>G (p.Pro30652=)
c.65850T>G (p.Pro21950=)
c.65709T>G (p.Pro21903=)
c.91752T>G (p.Pro30584=)
c.87150T>G (p.Pro29050=)
c.87147T>G (p.Pro29049=)
c.84189T>G (p.Pro28063=)
c.65805T>G (p.Pro21935=)
c.87300T>G (p.Pro29100=)
c.87297T>G (p.Pro29099=)
c.86730T>G (p.Pro28910=)
c.84072T>G (p.Pro28024=)
c.83991T>G (p.Pro27997=)
c.65754T>G (p.Pro21918=)
c.55608T>G (p.Pro18536=)
2g.178548767A>GCA430243579TTN,TTN-AS1c.85155T>C (p.Pro28385=)
c.66240T>C (p.Pro22080=)
c.66039T>C (p.Pro22013=)
c.65664T>C (p.Pro21888=)
c.92859T>C (p.Pro30953=)
c.87936T>C (p.Pro29312=)
n.447-22533A>G
n.2043+6406A>G
c.91956T>C (p.Pro30652=)
c.65850T>C (p.Pro21950=)
c.65709T>C (p.Pro21903=)
c.91752T>C (p.Pro30584=)
c.87150T>C (p.Pro29050=)
c.87147T>C (p.Pro29049=)
c.84189T>C (p.Pro28063=)
c.65805T>C (p.Pro21935=)
c.87300T>C (p.Pro29100=)
c.87297T>C (p.Pro29099=)
c.86730T>C (p.Pro28910=)
c.84072T>C (p.Pro28024=)
c.83991T>C (p.Pro27997=)
c.65754T>C (p.Pro21918=)
c.55608T>C (p.Pro18536=)
2g.178548767A>TCA430243578TTN,TTN-AS1c.85155T>A (p.Pro28385=)
c.66240T>A (p.Pro22080=)
c.66039T>A (p.Pro22013=)
c.65664T>A (p.Pro21888=)
c.92859T>A (p.Pro30953=)
c.87936T>A (p.Pro29312=)
n.447-22533A>T
n.2043+6406A>T
c.91956T>A (p.Pro30652=)
c.65850T>A (p.Pro21950=)
c.65709T>A (p.Pro21903=)
c.91752T>A (p.Pro30584=)
c.87150T>A (p.Pro29050=)
c.87147T>A (p.Pro29049=)
c.84189T>A (p.Pro28063=)
c.65805T>A (p.Pro21935=)
c.87300T>A (p.Pro29100=)
c.87297T>A (p.Pro29099=)
c.86730T>A (p.Pro28910=)
c.84072T>A (p.Pro28024=)
c.83991T>A (p.Pro27997=)
c.65754T>A (p.Pro21918=)
c.55608T>A (p.Pro18536=)
2g.178548768G>ACA349490125TTN,TTN-AS1c.85154C>T (p.Pro28385Leu)
c.66239C>T (p.Pro22080Leu)
c.66038C>T (p.Pro22013Leu)
c.65663C>T (p.Pro21888Leu)
c.92858C>T (p.Pro30953Leu)
c.87935C>T (p.Pro29312Leu)
n.447-22532G>A
n.2043+6407G>A
c.91955C>T (p.Pro30652Leu)
c.65849C>T (p.Pro21950Leu)
c.65708C>T (p.Pro21903Leu)
c.91751C>T (p.Pro30584Leu)
c.87149C>T (p.Pro29050Leu)
c.87146C>T (p.Pro29049Leu)
c.84188C>T (p.Pro28063Leu)
c.65804C>T (p.Pro21935Leu)
c.87299C>T (p.Pro29100Leu)
c.87296C>T (p.Pro29099Leu)
c.86729C>T (p.Pro28910Leu)
c.84071C>T (p.Pro28024Leu)
c.83990C>T (p.Pro27997Leu)
c.65753C>T (p.Pro21918Leu)
c.55607C>T (p.Pro18536Leu)
 gnomAD v4
2g.178548768G>CCA349490141TTN,TTN-AS1c.85154C>G (p.Pro28385Arg)
c.66239C>G (p.Pro22080Arg)
c.66038C>G (p.Pro22013Arg)
c.65663C>G (p.Pro21888Arg)
c.92858C>G (p.Pro30953Arg)
c.87935C>G (p.Pro29312Arg)
n.447-22532G>C
n.2043+6407G>C
c.91955C>G (p.Pro30652Arg)
c.65849C>G (p.Pro21950Arg)
c.65708C>G (p.Pro21903Arg)
c.91751C>G (p.Pro30584Arg)
c.87149C>G (p.Pro29050Arg)
c.87146C>G (p.Pro29049Arg)
c.84188C>G (p.Pro28063Arg)
c.65804C>G (p.Pro21935Arg)
c.87299C>G (p.Pro29100Arg)
c.87296C>G (p.Pro29099Arg)
c.86729C>G (p.Pro28910Arg)
c.84071C>G (p.Pro28024Arg)
c.83990C>G (p.Pro27997Arg)
c.65753C>G (p.Pro21918Arg)
c.55607C>G (p.Pro18536Arg)
2g.178548768G>TCA349490137TTN,TTN-AS1c.85154C>A (p.Pro28385His)
c.66239C>A (p.Pro22080His)
c.66038C>A (p.Pro22013His)
c.65663C>A (p.Pro21888His)
c.92858C>A (p.Pro30953His)
c.87935C>A (p.Pro29312His)
n.447-22532G>T
n.2043+6407G>T
c.91955C>A (p.Pro30652His)
c.65849C>A (p.Pro21950His)
c.65708C>A (p.Pro21903His)
c.91751C>A (p.Pro30584His)
c.87149C>A (p.Pro29050His)
c.87146C>A (p.Pro29049His)
c.84188C>A (p.Pro28063His)
c.65804C>A (p.Pro21935His)
c.87299C>A (p.Pro29100His)
c.87296C>A (p.Pro29099His)
c.86729C>A (p.Pro28910His)
c.84071C>A (p.Pro28024His)
c.83990C>A (p.Pro27997His)
c.65753C>A (p.Pro21918His)
c.55607C>A (p.Pro18536His)

Number of alleles fetched