Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178565887C>ACA349589939TTN,TTN-AS1c.72541G>T (p.Glu24181Ter)
c.53626G>T (p.Glu17876Ter)
c.53425G>T (p.Glu17809Ter)
c.53050G>T (p.Glu17684Ter)
c.80245G>T (p.Glu26749Ter)
c.75322G>T (p.Glu25108Ter)
n.447-5413C>A
n.2044-16685C>A
c.79342G>T (p.Glu26448Ter)
c.53236G>T (p.Glu17746Ter)
c.53095G>T (p.Glu17699Ter)
c.79138G>T (p.Glu26380Ter)
c.74536G>T (p.Glu24846Ter)
c.74533G>T (p.Glu24845Ter)
c.71575G>T (p.Glu23859Ter)
c.53191G>T (p.Glu17731Ter)
c.74686G>T (p.Glu24896Ter)
c.74683G>T (p.Glu24895Ter)
c.74116G>T (p.Glu24706Ter)
c.71458G>T (p.Glu23820Ter)
c.71377G>T (p.Glu23793Ter)
c.53140G>T (p.Glu17714Ter)
c.42994G>T (p.Glu14332Ter)
2g.178565887C>GCA349589941TTN,TTN-AS1c.72541G>C (p.Glu24181Gln)
c.53626G>C (p.Glu17876Gln)
c.53425G>C (p.Glu17809Gln)
c.53050G>C (p.Glu17684Gln)
c.80245G>C (p.Glu26749Gln)
c.75322G>C (p.Glu25108Gln)
n.447-5413C>G
n.2044-16685C>G
c.79342G>C (p.Glu26448Gln)
c.53236G>C (p.Glu17746Gln)
c.53095G>C (p.Glu17699Gln)
c.79138G>C (p.Glu26380Gln)
c.74536G>C (p.Glu24846Gln)
c.74533G>C (p.Glu24845Gln)
c.71575G>C (p.Glu23859Gln)
c.53191G>C (p.Glu17731Gln)
c.74686G>C (p.Glu24896Gln)
c.74683G>C (p.Glu24895Gln)
c.74116G>C (p.Glu24706Gln)
c.71458G>C (p.Glu23820Gln)
c.71377G>C (p.Glu23793Gln)
c.53140G>C (p.Glu17714Gln)
c.42994G>C (p.Glu14332Gln)
2g.178565887C>TCA349589940TTN,TTN-AS1c.72541G>A (p.Glu24181Lys)
c.53626G>A (p.Glu17876Lys)
c.53425G>A (p.Glu17809Lys)
c.53050G>A (p.Glu17684Lys)
c.80245G>A (p.Glu26749Lys)
c.75322G>A (p.Glu25108Lys)
n.447-5413C>T
n.2044-16685C>T
c.79342G>A (p.Glu26448Lys)
c.53236G>A (p.Glu17746Lys)
c.53095G>A (p.Glu17699Lys)
c.79138G>A (p.Glu26380Lys)
c.74536G>A (p.Glu24846Lys)
c.74533G>A (p.Glu24845Lys)
c.71575G>A (p.Glu23859Lys)
c.53191G>A (p.Glu17731Lys)
c.74686G>A (p.Glu24896Lys)
c.74683G>A (p.Glu24895Lys)
c.74116G>A (p.Glu24706Lys)
c.71458G>A (p.Glu23820Lys)
c.71377G>A (p.Glu23793Lys)
c.53140G>A (p.Glu17714Lys)
c.42994G>A (p.Glu14332Lys)
gnomAD v4
2g.178565888T>ACA430252087TTN,TTN-AS1c.72540A>T (p.Thr24180=)
c.53625A>T (p.Thr17875=)
c.53424A>T (p.Thr17808=)
c.53049A>T (p.Thr17683=)
c.80244A>T (p.Thr26748=)
c.75321A>T (p.Thr25107=)
n.447-5412T>A
n.2044-16684T>A
c.79341A>T (p.Thr26447=)
c.53235A>T (p.Thr17745=)
c.53094A>T (p.Thr17698=)
c.79137A>T (p.Thr26379=)
c.74535A>T (p.Thr24845=)
c.74532A>T (p.Thr24844=)
c.71574A>T (p.Thr23858=)
c.53190A>T (p.Thr17730=)
c.74685A>T (p.Thr24895=)
c.74682A>T (p.Thr24894=)
c.74115A>T (p.Thr24705=)
c.71457A>T (p.Thr23819=)
c.71376A>T (p.Thr23792=)
c.53139A>T (p.Thr17713=)
c.42993A>T (p.Thr14331=)
2g.178565888T>CCA430252088TTN,TTN-AS1c.72540A>G (p.Thr24180=)
c.53625A>G (p.Thr17875=)
c.53424A>G (p.Thr17808=)
c.53049A>G (p.Thr17683=)
c.80244A>G (p.Thr26748=)
c.75321A>G (p.Thr25107=)
n.447-5412T>C
n.2044-16684T>C
c.79341A>G (p.Thr26447=)
c.53235A>G (p.Thr17745=)
c.53094A>G (p.Thr17698=)
c.79137A>G (p.Thr26379=)
c.74535A>G (p.Thr24845=)
c.74532A>G (p.Thr24844=)
c.71574A>G (p.Thr23858=)
c.53190A>G (p.Thr17730=)
c.74685A>G (p.Thr24895=)
c.74682A>G (p.Thr24894=)
c.74115A>G (p.Thr24705=)
c.71457A>G (p.Thr23819=)
c.71376A>G (p.Thr23792=)
c.53139A>G (p.Thr17713=)
c.42993A>G (p.Thr14331=)
2g.178565888T>GCA430252086TTN,TTN-AS1c.72540A>C (p.Thr24180=)
c.53625A>C (p.Thr17875=)
c.53424A>C (p.Thr17808=)
c.53049A>C (p.Thr17683=)
c.80244A>C (p.Thr26748=)
c.75321A>C (p.Thr25107=)
n.447-5412T>G
n.2044-16684T>G
c.79341A>C (p.Thr26447=)
c.53235A>C (p.Thr17745=)
c.53094A>C (p.Thr17698=)
c.79137A>C (p.Thr26379=)
c.74535A>C (p.Thr24845=)
c.74532A>C (p.Thr24844=)
c.71574A>C (p.Thr23858=)
c.53190A>C (p.Thr17730=)
c.74685A>C (p.Thr24895=)
c.74682A>C (p.Thr24894=)
c.74115A>C (p.Thr24705=)
c.71457A>C (p.Thr23819=)
c.71376A>C (p.Thr23792=)
c.53139A>C (p.Thr17713=)
c.42993A>C (p.Thr14331=)
2g.178565889G>ACA349589943TTN,TTN-AS1c.72539C>T (p.Thr24180Ile)
c.53624C>T (p.Thr17875Ile)
c.53423C>T (p.Thr17808Ile)
c.53048C>T (p.Thr17683Ile)
c.80243C>T (p.Thr26748Ile)
c.75320C>T (p.Thr25107Ile)
n.447-5411G>A
n.2044-16683G>A
c.79340C>T (p.Thr26447Ile)
c.53234C>T (p.Thr17745Ile)
c.53093C>T (p.Thr17698Ile)
c.79136C>T (p.Thr26379Ile)
c.74534C>T (p.Thr24845Ile)
c.74531C>T (p.Thr24844Ile)
c.71573C>T (p.Thr23858Ile)
c.53189C>T (p.Thr17730Ile)
c.74684C>T (p.Thr24895Ile)
c.74681C>T (p.Thr24894Ile)
c.74114C>T (p.Thr24705Ile)
c.71456C>T (p.Thr23819Ile)
c.71375C>T (p.Thr23792Ile)
c.53138C>T (p.Thr17713Ile)
c.42992C>T (p.Thr14331Ile)
gnomAD v4
2g.178565889G>CCA349589945TTN,TTN-AS1c.72539C>G (p.Thr24180Arg)
c.53624C>G (p.Thr17875Arg)
c.53423C>G (p.Thr17808Arg)
c.53048C>G (p.Thr17683Arg)
c.80243C>G (p.Thr26748Arg)
c.75320C>G (p.Thr25107Arg)
n.447-5411G>C
n.2044-16683G>C
c.79340C>G (p.Thr26447Arg)
c.53234C>G (p.Thr17745Arg)
c.53093C>G (p.Thr17698Arg)
c.79136C>G (p.Thr26379Arg)
c.74534C>G (p.Thr24845Arg)
c.74531C>G (p.Thr24844Arg)
c.71573C>G (p.Thr23858Arg)
c.53189C>G (p.Thr17730Arg)
c.74684C>G (p.Thr24895Arg)
c.74681C>G (p.Thr24894Arg)
c.74114C>G (p.Thr24705Arg)
c.71456C>G (p.Thr23819Arg)
c.71375C>G (p.Thr23792Arg)
c.53138C>G (p.Thr17713Arg)
c.42992C>G (p.Thr14331Arg)
gnomAD v4
2g.178565889G>TCA349589947TTN,TTN-AS1c.72539C>A (p.Thr24180Lys)
c.53624C>A (p.Thr17875Lys)
c.53423C>A (p.Thr17808Lys)
c.53048C>A (p.Thr17683Lys)
c.80243C>A (p.Thr26748Lys)
c.75320C>A (p.Thr25107Lys)
n.447-5411G>T
n.2044-16683G>T
c.79340C>A (p.Thr26447Lys)
c.53234C>A (p.Thr17745Lys)
c.53093C>A (p.Thr17698Lys)
c.79136C>A (p.Thr26379Lys)
c.74534C>A (p.Thr24845Lys)
c.74531C>A (p.Thr24844Lys)
c.71573C>A (p.Thr23858Lys)
c.53189C>A (p.Thr17730Lys)
c.74684C>A (p.Thr24895Lys)
c.74681C>A (p.Thr24894Lys)
c.74114C>A (p.Thr24705Lys)
c.71456C>A (p.Thr23819Lys)
c.71375C>A (p.Thr23792Lys)
c.53138C>A (p.Thr17713Lys)
c.42992C>A (p.Thr14331Lys)
2g.178565890T>ACA349589958TTN,TTN-AS1c.72538A>T (p.Thr24180Ser)
c.53623A>T (p.Thr17875Ser)
c.53422A>T (p.Thr17808Ser)
c.53047A>T (p.Thr17683Ser)
c.80242A>T (p.Thr26748Ser)
c.75319A>T (p.Thr25107Ser)
n.447-5410T>A
n.2044-16682T>A
c.79339A>T (p.Thr26447Ser)
c.53233A>T (p.Thr17745Ser)
c.53092A>T (p.Thr17698Ser)
c.79135A>T (p.Thr26379Ser)
c.74533A>T (p.Thr24845Ser)
c.74530A>T (p.Thr24844Ser)
c.71572A>T (p.Thr23858Ser)
c.53188A>T (p.Thr17730Ser)
c.74683A>T (p.Thr24895Ser)
c.74680A>T (p.Thr24894Ser)
c.74113A>T (p.Thr24705Ser)
c.71455A>T (p.Thr23819Ser)
c.71374A>T (p.Thr23792Ser)
c.53137A>T (p.Thr17713Ser)
c.42991A>T (p.Thr14331Ser)
2g.178565890T>CCA349589960TTN,TTN-AS1c.72538A>G (p.Thr24180Ala)
c.53623A>G (p.Thr17875Ala)
c.53422A>G (p.Thr17808Ala)
c.53047A>G (p.Thr17683Ala)
c.80242A>G (p.Thr26748Ala)
c.75319A>G (p.Thr25107Ala)
n.447-5410T>C
n.2044-16682T>C
c.79339A>G (p.Thr26447Ala)
c.53233A>G (p.Thr17745Ala)
c.53092A>G (p.Thr17698Ala)
c.79135A>G (p.Thr26379Ala)
c.74533A>G (p.Thr24845Ala)
c.74530A>G (p.Thr24844Ala)
c.71572A>G (p.Thr23858Ala)
c.53188A>G (p.Thr17730Ala)
c.74683A>G (p.Thr24895Ala)
c.74680A>G (p.Thr24894Ala)
c.74113A>G (p.Thr24705Ala)
c.71455A>G (p.Thr23819Ala)
c.71374A>G (p.Thr23792Ala)
c.53137A>G (p.Thr17713Ala)
c.42991A>G (p.Thr14331Ala)
gnomAD v4
2g.178565890T>GCA349589961TTN,TTN-AS1c.72538A>C (p.Thr24180Pro)
c.53623A>C (p.Thr17875Pro)
c.53422A>C (p.Thr17808Pro)
c.53047A>C (p.Thr17683Pro)
c.80242A>C (p.Thr26748Pro)
c.75319A>C (p.Thr25107Pro)
n.447-5410T>G
n.2044-16682T>G
c.79339A>C (p.Thr26447Pro)
c.53233A>C (p.Thr17745Pro)
c.53092A>C (p.Thr17698Pro)
c.79135A>C (p.Thr26379Pro)
c.74533A>C (p.Thr24845Pro)
c.74530A>C (p.Thr24844Pro)
c.71572A>C (p.Thr23858Pro)
c.53188A>C (p.Thr17730Pro)
c.74683A>C (p.Thr24895Pro)
c.74680A>C (p.Thr24894Pro)
c.74113A>C (p.Thr24705Pro)
c.71455A>C (p.Thr23819Pro)
c.71374A>C (p.Thr23792Pro)
c.53137A>C (p.Thr17713Pro)
c.42991A>C (p.Thr14331Pro)
2g.178565891A>CCA430252096TTN,TTN-AS1c.72537T>G (p.Leu24179=)
c.53622T>G (p.Leu17874=)
c.53421T>G (p.Leu17807=)
c.53046T>G (p.Leu17682=)
c.80241T>G (p.Leu26747=)
c.75318T>G (p.Leu25106=)
n.447-5409A>C
n.2044-16681A>C
c.79338T>G (p.Leu26446=)
c.53232T>G (p.Leu17744=)
c.53091T>G (p.Leu17697=)
c.79134T>G (p.Leu26378=)
c.74532T>G (p.Leu24844=)
c.74529T>G (p.Leu24843=)
c.71571T>G (p.Leu23857=)
c.53187T>G (p.Leu17729=)
c.74682T>G (p.Leu24894=)
c.74679T>G (p.Leu24893=)
c.74112T>G (p.Leu24704=)
c.71454T>G (p.Leu23818=)
c.71373T>G (p.Leu23791=)
c.53136T>G (p.Leu17712=)
c.42990T>G (p.Leu14330=)
2g.178565891A>GCA430252095TTN,TTN-AS1c.72537T>C (p.Leu24179=)
c.53622T>C (p.Leu17874=)
c.53421T>C (p.Leu17807=)
c.53046T>C (p.Leu17682=)
c.80241T>C (p.Leu26747=)
c.75318T>C (p.Leu25106=)
n.447-5409A>G
n.2044-16681A>G
c.79338T>C (p.Leu26446=)
c.53232T>C (p.Leu17744=)
c.53091T>C (p.Leu17697=)
c.79134T>C (p.Leu26378=)
c.74532T>C (p.Leu24844=)
c.74529T>C (p.Leu24843=)
c.71571T>C (p.Leu23857=)
c.53187T>C (p.Leu17729=)
c.74682T>C (p.Leu24894=)
c.74679T>C (p.Leu24893=)
c.74112T>C (p.Leu24704=)
c.71454T>C (p.Leu23818=)
c.71373T>C (p.Leu23791=)
c.53136T>C (p.Leu17712=)
c.42990T>C (p.Leu14330=)
2g.178565891A>TCA430252092TTN,TTN-AS1c.72537T>A (p.Leu24179=)
c.53622T>A (p.Leu17874=)
c.53421T>A (p.Leu17807=)
c.53046T>A (p.Leu17682=)
c.80241T>A (p.Leu26747=)
c.75318T>A (p.Leu25106=)
n.447-5409A>T
n.2044-16681A>T
c.79338T>A (p.Leu26446=)
c.53232T>A (p.Leu17744=)
c.53091T>A (p.Leu17697=)
c.79134T>A (p.Leu26378=)
c.74532T>A (p.Leu24844=)
c.74529T>A (p.Leu24843=)
c.71571T>A (p.Leu23857=)
c.53187T>A (p.Leu17729=)
c.74682T>A (p.Leu24894=)
c.74679T>A (p.Leu24893=)
c.74112T>A (p.Leu24704=)
c.71454T>A (p.Leu23818=)
c.71373T>A (p.Leu23791=)
c.53136T>A (p.Leu17712=)
c.42990T>A (p.Leu14330=)
2g.178565892A>CCA349589962TTN,TTN-AS1c.72536T>G (p.Leu24179Arg)
c.53621T>G (p.Leu17874Arg)
c.53420T>G (p.Leu17807Arg)
c.53045T>G (p.Leu17682Arg)
c.80240T>G (p.Leu26747Arg)
c.75317T>G (p.Leu25106Arg)
n.447-5408A>C
n.2044-16680A>C
c.79337T>G (p.Leu26446Arg)
c.53231T>G (p.Leu17744Arg)
c.53090T>G (p.Leu17697Arg)
c.79133T>G (p.Leu26378Arg)
c.74531T>G (p.Leu24844Arg)
c.74528T>G (p.Leu24843Arg)
c.71570T>G (p.Leu23857Arg)
c.53186T>G (p.Leu17729Arg)
c.74681T>G (p.Leu24894Arg)
c.74678T>G (p.Leu24893Arg)
c.74111T>G (p.Leu24704Arg)
c.71453T>G (p.Leu23818Arg)
c.71372T>G (p.Leu23791Arg)
c.53135T>G (p.Leu17712Arg)
c.42989T>G (p.Leu14330Arg)
2g.178565892A>GCA349589963TTN,TTN-AS1c.72536T>C (p.Leu24179Pro)
c.53621T>C (p.Leu17874Pro)
c.53420T>C (p.Leu17807Pro)
c.53045T>C (p.Leu17682Pro)
c.80240T>C (p.Leu26747Pro)
c.75317T>C (p.Leu25106Pro)
n.447-5408A>G
n.2044-16680A>G
c.79337T>C (p.Leu26446Pro)
c.53231T>C (p.Leu17744Pro)
c.53090T>C (p.Leu17697Pro)
c.79133T>C (p.Leu26378Pro)
c.74531T>C (p.Leu24844Pro)
c.74528T>C (p.Leu24843Pro)
c.71570T>C (p.Leu23857Pro)
c.53186T>C (p.Leu17729Pro)
c.74681T>C (p.Leu24894Pro)
c.74678T>C (p.Leu24893Pro)
c.74111T>C (p.Leu24704Pro)
c.71453T>C (p.Leu23818Pro)
c.71372T>C (p.Leu23791Pro)
c.53135T>C (p.Leu17712Pro)
c.42989T>C (p.Leu14330Pro)
2g.178565892A>TCA349589965TTN,TTN-AS1c.72536T>A (p.Leu24179His)
c.53621T>A (p.Leu17874His)
c.53420T>A (p.Leu17807His)
c.53045T>A (p.Leu17682His)
c.80240T>A (p.Leu26747His)
c.75317T>A (p.Leu25106His)
n.447-5408A>T
n.2044-16680A>T
c.79337T>A (p.Leu26446His)
c.53231T>A (p.Leu17744His)
c.53090T>A (p.Leu17697His)
c.79133T>A (p.Leu26378His)
c.74531T>A (p.Leu24844His)
c.74528T>A (p.Leu24843His)
c.71570T>A (p.Leu23857His)
c.53186T>A (p.Leu17729His)
c.74681T>A (p.Leu24894His)
c.74678T>A (p.Leu24893His)
c.74111T>A (p.Leu24704His)
c.71453T>A (p.Leu23818His)
c.71372T>A (p.Leu23791His)
c.53135T>A (p.Leu17712His)
c.42989T>A (p.Leu14330His)
2g.178565893G>ACA349589971TTN,TTN-AS1c.72535C>T (p.Leu24179Phe)
c.53620C>T (p.Leu17874Phe)
c.53419C>T (p.Leu17807Phe)
c.53044C>T (p.Leu17682Phe)
c.80239C>T (p.Leu26747Phe)
c.75316C>T (p.Leu25106Phe)
n.447-5407G>A
n.2044-16679G>A
c.79336C>T (p.Leu26446Phe)
c.53230C>T (p.Leu17744Phe)
c.53089C>T (p.Leu17697Phe)
c.79132C>T (p.Leu26378Phe)
c.74530C>T (p.Leu24844Phe)
c.74527C>T (p.Leu24843Phe)
c.71569C>T (p.Leu23857Phe)
c.53185C>T (p.Leu17729Phe)
c.74680C>T (p.Leu24894Phe)
c.74677C>T (p.Leu24893Phe)
c.74110C>T (p.Leu24704Phe)
c.71452C>T (p.Leu23818Phe)
c.71371C>T (p.Leu23791Phe)
c.53134C>T (p.Leu17712Phe)
c.42988C>T (p.Leu14330Phe)
2g.178565893G>CCA349589977TTN,TTN-AS1c.72535C>G (p.Leu24179Val)
c.53620C>G (p.Leu17874Val)
c.53419C>G (p.Leu17807Val)
c.53044C>G (p.Leu17682Val)
c.80239C>G (p.Leu26747Val)
c.75316C>G (p.Leu25106Val)
n.447-5407G>C
n.2044-16679G>C
c.79336C>G (p.Leu26446Val)
c.53230C>G (p.Leu17744Val)
c.53089C>G (p.Leu17697Val)
c.79132C>G (p.Leu26378Val)
c.74530C>G (p.Leu24844Val)
c.74527C>G (p.Leu24843Val)
c.71569C>G (p.Leu23857Val)
c.53185C>G (p.Leu17729Val)
c.74680C>G (p.Leu24894Val)
c.74677C>G (p.Leu24893Val)
c.74110C>G (p.Leu24704Val)
c.71452C>G (p.Leu23818Val)
c.71371C>G (p.Leu23791Val)
c.53134C>G (p.Leu17712Val)
c.42988C>G (p.Leu14330Val)
2g.178565893G=CA1310529305TTN,TTN-AS1c.72535C= (p.Leu24179=)
c.53620C= (p.Leu17874=)
c.53419C= (p.Leu17807=)
c.53044C= (p.Leu17682=)
c.80239C= (p.Leu26747=)
c.75316C= (p.Leu25106=)
n.447-5407G=
n.2044-16679G=
c.79336C= (p.Leu26446=)
c.53230C= (p.Leu17744=)
c.53089C= (p.Leu17697=)
c.79132C= (p.Leu26378=)
c.74530C= (p.Leu24844=)
c.74527C= (p.Leu24843=)
c.71569C= (p.Leu23857=)
c.53185C= (p.Leu17729=)
c.74680C= (p.Leu24894=)
c.74677C= (p.Leu24893=)
c.74110C= (p.Leu24704=)
c.71452C= (p.Leu23818=)
c.71371C= (p.Leu23791=)
c.53134C= (p.Leu17712=)
c.42988C= (p.Leu14330=)
2g.178565893G>TCA1989374TTN,TTN-AS1c.72535C>A (p.Leu24179Ile)
c.53620C>A (p.Leu17874Ile)
c.53419C>A (p.Leu17807Ile)
c.53044C>A (p.Leu17682Ile)
c.80239C>A (p.Leu26747Ile)
c.75316C>A (p.Leu25106Ile)
n.447-5407G>T
n.2044-16679G>T
c.79336C>A (p.Leu26446Ile)
c.53230C>A (p.Leu17744Ile)
c.53089C>A (p.Leu17697Ile)
c.79132C>A (p.Leu26378Ile)
c.74530C>A (p.Leu24844Ile)
c.74527C>A (p.Leu24843Ile)
c.71569C>A (p.Leu23857Ile)
c.53185C>A (p.Leu17729Ile)
c.74680C>A (p.Leu24894Ile)
c.74677C>A (p.Leu24893Ile)
c.74110C>A (p.Leu24704Ile)
c.71452C>A (p.Leu23818Ile)
c.71371C>A (p.Leu23791Ile)
c.53134C>A (p.Leu17712Ile)
c.42988C>A (p.Leu14330Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178565894G>ACA430252100TTN,TTN-AS1c.72534C>T (p.Asn24178=)
c.53619C>T (p.Asn17873=)
c.53418C>T (p.Asn17806=)
c.53043C>T (p.Asn17681=)
c.80238C>T (p.Asn26746=)
c.75315C>T (p.Asn25105=)
n.447-5406G>A
n.2044-16678G>A
c.79335C>T (p.Asn26445=)
c.53229C>T (p.Asn17743=)
c.53088C>T (p.Asn17696=)
c.79131C>T (p.Asn26377=)
c.74529C>T (p.Asn24843=)
c.74526C>T (p.Asn24842=)
c.71568C>T (p.Asn23856=)
c.53184C>T (p.Asn17728=)
c.74679C>T (p.Asn24893=)
c.74676C>T (p.Asn24892=)
c.74109C>T (p.Asn24703=)
c.71451C>T (p.Asn23817=)
c.71370C>T (p.Asn23790=)
c.53133C>T (p.Asn17711=)
c.42987C>T (p.Asn14329=)
dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178565894G>CCA349589989TTN,TTN-AS1c.72534C>G (p.Asn24178Lys)
c.53619C>G (p.Asn17873Lys)
c.53418C>G (p.Asn17806Lys)
c.53043C>G (p.Asn17681Lys)
c.80238C>G (p.Asn26746Lys)
c.75315C>G (p.Asn25105Lys)
n.447-5406G>C
n.2044-16678G>C
c.79335C>G (p.Asn26445Lys)
c.53229C>G (p.Asn17743Lys)
c.53088C>G (p.Asn17696Lys)
c.79131C>G (p.Asn26377Lys)
c.74529C>G (p.Asn24843Lys)
c.74526C>G (p.Asn24842Lys)
c.71568C>G (p.Asn23856Lys)
c.53184C>G (p.Asn17728Lys)
c.74679C>G (p.Asn24893Lys)
c.74676C>G (p.Asn24892Lys)
c.74109C>G (p.Asn24703Lys)
c.71451C>G (p.Asn23817Lys)
c.71370C>G (p.Asn23790Lys)
c.53133C>G (p.Asn17711Lys)
c.42987C>G (p.Asn14329Lys)
dbSNP gnomAD v2 gnomAD v4
2g.178565894G=CA1310529306TTN,TTN-AS1c.72534C= (p.Asn24178=)
c.53619C= (p.Asn17873=)
c.53418C= (p.Asn17806=)
c.53043C= (p.Asn17681=)
c.80238C= (p.Asn26746=)
c.75315C= (p.Asn25105=)
n.447-5406G=
n.2044-16678G=
c.79335C= (p.Asn26445=)
c.53229C= (p.Asn17743=)
c.53088C= (p.Asn17696=)
c.79131C= (p.Asn26377=)
c.74529C= (p.Asn24843=)
c.74526C= (p.Asn24842=)
c.71568C= (p.Asn23856=)
c.53184C= (p.Asn17728=)
c.74679C= (p.Asn24893=)
c.74676C= (p.Asn24892=)
c.74109C= (p.Asn24703=)
c.71451C= (p.Asn23817=)
c.71370C= (p.Asn23790=)
c.53133C= (p.Asn17711=)
c.42987C= (p.Asn14329=)
2g.178565894G>TCA349589992TTN,TTN-AS1c.72534C>A (p.Asn24178Lys)
c.53619C>A (p.Asn17873Lys)
c.53418C>A (p.Asn17806Lys)
c.53043C>A (p.Asn17681Lys)
c.80238C>A (p.Asn26746Lys)
c.75315C>A (p.Asn25105Lys)
n.447-5406G>T
n.2044-16678G>T
c.79335C>A (p.Asn26445Lys)
c.53229C>A (p.Asn17743Lys)
c.53088C>A (p.Asn17696Lys)
c.79131C>A (p.Asn26377Lys)
c.74529C>A (p.Asn24843Lys)
c.74526C>A (p.Asn24842Lys)
c.71568C>A (p.Asn23856Lys)
c.53184C>A (p.Asn17728Lys)
c.74679C>A (p.Asn24893Lys)
c.74676C>A (p.Asn24892Lys)
c.74109C>A (p.Asn24703Lys)
c.71451C>A (p.Asn23817Lys)
c.71370C>A (p.Asn23790Lys)
c.53133C>A (p.Asn17711Lys)
c.42987C>A (p.Asn14329Lys)
2g.178565895T>ACA349589998TTN,TTN-AS1c.72533A>T (p.Asn24178Ile)
c.53618A>T (p.Asn17873Ile)
c.53417A>T (p.Asn17806Ile)
c.53042A>T (p.Asn17681Ile)
c.80237A>T (p.Asn26746Ile)
c.75314A>T (p.Asn25105Ile)
n.447-5405T>A
n.2044-16677T>A
c.79334A>T (p.Asn26445Ile)
c.53228A>T (p.Asn17743Ile)
c.53087A>T (p.Asn17696Ile)
c.79130A>T (p.Asn26377Ile)
c.74528A>T (p.Asn24843Ile)
c.74525A>T (p.Asn24842Ile)
c.71567A>T (p.Asn23856Ile)
c.53183A>T (p.Asn17728Ile)
c.74678A>T (p.Asn24893Ile)
c.74675A>T (p.Asn24892Ile)
c.74108A>T (p.Asn24703Ile)
c.71450A>T (p.Asn23817Ile)
c.71369A>T (p.Asn23790Ile)
c.53132A>T (p.Asn17711Ile)
c.42986A>T (p.Asn14329Ile)
2g.178565895T>CCA349590002TTN,TTN-AS1c.72533A>G (p.Asn24178Ser)
c.53618A>G (p.Asn17873Ser)
c.53417A>G (p.Asn17806Ser)
c.53042A>G (p.Asn17681Ser)
c.80237A>G (p.Asn26746Ser)
c.75314A>G (p.Asn25105Ser)
n.447-5405T>C
n.2044-16677T>C
c.79334A>G (p.Asn26445Ser)
c.53228A>G (p.Asn17743Ser)
c.53087A>G (p.Asn17696Ser)
c.79130A>G (p.Asn26377Ser)
c.74528A>G (p.Asn24843Ser)
c.74525A>G (p.Asn24842Ser)
c.71567A>G (p.Asn23856Ser)
c.53183A>G (p.Asn17728Ser)
c.74678A>G (p.Asn24893Ser)
c.74675A>G (p.Asn24892Ser)
c.74108A>G (p.Asn24703Ser)
c.71450A>G (p.Asn23817Ser)
c.71369A>G (p.Asn23790Ser)
c.53132A>G (p.Asn17711Ser)
c.42986A>G (p.Asn14329Ser)
dbSNP
2g.178565895T>GCA349590007TTN,TTN-AS1c.72533A>C (p.Asn24178Thr)
c.53618A>C (p.Asn17873Thr)
c.53417A>C (p.Asn17806Thr)
c.53042A>C (p.Asn17681Thr)
c.80237A>C (p.Asn26746Thr)
c.75314A>C (p.Asn25105Thr)
n.447-5405T>G
n.2044-16677T>G
c.79334A>C (p.Asn26445Thr)
c.53228A>C (p.Asn17743Thr)
c.53087A>C (p.Asn17696Thr)
c.79130A>C (p.Asn26377Thr)
c.74528A>C (p.Asn24843Thr)
c.74525A>C (p.Asn24842Thr)
c.71567A>C (p.Asn23856Thr)
c.53183A>C (p.Asn17728Thr)
c.74678A>C (p.Asn24893Thr)
c.74675A>C (p.Asn24892Thr)
c.74108A>C (p.Asn24703Thr)
c.71450A>C (p.Asn23817Thr)
c.71369A>C (p.Asn23790Thr)
c.53132A>C (p.Asn17711Thr)
c.42986A>C (p.Asn14329Thr)
2g.178565895T=CA1310529307TTN,TTN-AS1c.72533A= (p.Asn24178=)
c.53618A= (p.Asn17873=)
c.53417A= (p.Asn17806=)
c.53042A= (p.Asn17681=)
c.80237A= (p.Asn26746=)
c.75314A= (p.Asn25105=)
n.447-5405T=
n.2044-16677T=
c.79334A= (p.Asn26445=)
c.53228A= (p.Asn17743=)
c.53087A= (p.Asn17696=)
c.79130A= (p.Asn26377=)
c.74528A= (p.Asn24843=)
c.74525A= (p.Asn24842=)
c.71567A= (p.Asn23856=)
c.53183A= (p.Asn17728=)
c.74678A= (p.Asn24893=)
c.74675A= (p.Asn24892=)
c.74108A= (p.Asn24703=)
c.71450A= (p.Asn23817=)
c.71369A= (p.Asn23790=)
c.53132A= (p.Asn17711=)
c.42986A= (p.Asn14329=)
2g.178565896T>ACA349590015TTN,TTN-AS1c.72532A>T (p.Asn24178Tyr)
c.53617A>T (p.Asn17873Tyr)
c.53416A>T (p.Asn17806Tyr)
c.53041A>T (p.Asn17681Tyr)
c.80236A>T (p.Asn26746Tyr)
c.75313A>T (p.Asn25105Tyr)
n.447-5404T>A
n.2044-16676T>A
c.79333A>T (p.Asn26445Tyr)
c.53227A>T (p.Asn17743Tyr)
c.53086A>T (p.Asn17696Tyr)
c.79129A>T (p.Asn26377Tyr)
c.74527A>T (p.Asn24843Tyr)
c.74524A>T (p.Asn24842Tyr)
c.71566A>T (p.Asn23856Tyr)
c.53182A>T (p.Asn17728Tyr)
c.74677A>T (p.Asn24893Tyr)
c.74674A>T (p.Asn24892Tyr)
c.74107A>T (p.Asn24703Tyr)
c.71449A>T (p.Asn23817Tyr)
c.71368A>T (p.Asn23790Tyr)
c.53131A>T (p.Asn17711Tyr)
c.42985A>T (p.Asn14329Tyr)
2g.178565896T>CCA349590010TTN,TTN-AS1c.72532A>G (p.Asn24178Asp)
c.53617A>G (p.Asn17873Asp)
c.53416A>G (p.Asn17806Asp)
c.53041A>G (p.Asn17681Asp)
c.80236A>G (p.Asn26746Asp)
c.75313A>G (p.Asn25105Asp)
n.447-5404T>C
n.2044-16676T>C
c.79333A>G (p.Asn26445Asp)
c.53227A>G (p.Asn17743Asp)
c.53086A>G (p.Asn17696Asp)
c.79129A>G (p.Asn26377Asp)
c.74527A>G (p.Asn24843Asp)
c.74524A>G (p.Asn24842Asp)
c.71566A>G (p.Asn23856Asp)
c.53182A>G (p.Asn17728Asp)
c.74677A>G (p.Asn24893Asp)
c.74674A>G (p.Asn24892Asp)
c.74107A>G (p.Asn24703Asp)
c.71449A>G (p.Asn23817Asp)
c.71368A>G (p.Asn23790Asp)
c.53131A>G (p.Asn17711Asp)
c.42985A>G (p.Asn14329Asp)
2g.178565896T>GCA349590013TTN,TTN-AS1c.72532A>C (p.Asn24178His)
c.53617A>C (p.Asn17873His)
c.53416A>C (p.Asn17806His)
c.53041A>C (p.Asn17681His)
c.80236A>C (p.Asn26746His)
c.75313A>C (p.Asn25105His)
n.447-5404T>G
n.2044-16676T>G
c.79333A>C (p.Asn26445His)
c.53227A>C (p.Asn17743His)
c.53086A>C (p.Asn17696His)
c.79129A>C (p.Asn26377His)
c.74527A>C (p.Asn24843His)
c.74524A>C (p.Asn24842His)
c.71566A>C (p.Asn23856His)
c.53182A>C (p.Asn17728His)
c.74677A>C (p.Asn24893His)
c.74674A>C (p.Asn24892His)
c.74107A>C (p.Asn24703His)
c.71449A>C (p.Asn23817His)
c.71368A>C (p.Asn23790His)
c.53131A>C (p.Asn17711His)
c.42985A>C (p.Asn14329His)
gnomAD v4
2g.178565897T>ACA349590017TTN,TTN-AS1c.72531A>T (p.Glu24177Asp)
c.53616A>T (p.Glu17872Asp)
c.53415A>T (p.Glu17805Asp)
c.53040A>T (p.Glu17680Asp)
c.80235A>T (p.Glu26745Asp)
c.75312A>T (p.Glu25104Asp)
n.447-5403T>A
n.2044-16675T>A
c.79332A>T (p.Glu26444Asp)
c.53226A>T (p.Glu17742Asp)
c.53085A>T (p.Glu17695Asp)
c.79128A>T (p.Glu26376Asp)
c.74526A>T (p.Glu24842Asp)
c.74523A>T (p.Glu24841Asp)
c.71565A>T (p.Glu23855Asp)
c.53181A>T (p.Glu17727Asp)
c.74676A>T (p.Glu24892Asp)
c.74673A>T (p.Glu24891Asp)
c.74106A>T (p.Glu24702Asp)
c.71448A>T (p.Glu23816Asp)
c.71367A>T (p.Glu23789Asp)
c.53130A>T (p.Glu17710Asp)
c.42984A>T (p.Glu14328Asp)
2g.178565897T>CCA430252107TTN,TTN-AS1c.72531A>G (p.Glu24177=)
c.53616A>G (p.Glu17872=)
c.53415A>G (p.Glu17805=)
c.53040A>G (p.Glu17680=)
c.80235A>G (p.Glu26745=)
c.75312A>G (p.Glu25104=)
n.447-5403T>C
n.2044-16675T>C
c.79332A>G (p.Glu26444=)
c.53226A>G (p.Glu17742=)
c.53085A>G (p.Glu17695=)
c.79128A>G (p.Glu26376=)
c.74526A>G (p.Glu24842=)
c.74523A>G (p.Glu24841=)
c.71565A>G (p.Glu23855=)
c.53181A>G (p.Glu17727=)
c.74676A>G (p.Glu24892=)
c.74673A>G (p.Glu24891=)
c.74106A>G (p.Glu24702=)
c.71448A>G (p.Glu23816=)
c.71367A>G (p.Glu23789=)
c.53130A>G (p.Glu17710=)
c.42984A>G (p.Glu14328=)
2g.178565897T>GCA349590022TTN,TTN-AS1c.72531A>C (p.Glu24177Asp)
c.53616A>C (p.Glu17872Asp)
c.53415A>C (p.Glu17805Asp)
c.53040A>C (p.Glu17680Asp)
c.80235A>C (p.Glu26745Asp)
c.75312A>C (p.Glu25104Asp)
n.447-5403T>G
n.2044-16675T>G
c.79332A>C (p.Glu26444Asp)
c.53226A>C (p.Glu17742Asp)
c.53085A>C (p.Glu17695Asp)
c.79128A>C (p.Glu26376Asp)
c.74526A>C (p.Glu24842Asp)
c.74523A>C (p.Glu24841Asp)
c.71565A>C (p.Glu23855Asp)
c.53181A>C (p.Glu17727Asp)
c.74676A>C (p.Glu24892Asp)
c.74673A>C (p.Glu24891Asp)
c.74106A>C (p.Glu24702Asp)
c.71448A>C (p.Glu23816Asp)
c.71367A>C (p.Glu23789Asp)
c.53130A>C (p.Glu17710Asp)
c.42984A>C (p.Glu14328Asp)
2g.178565898T>ACA349590034TTN,TTN-AS1c.72530A>T (p.Glu24177Val)
c.53615A>T (p.Glu17872Val)
c.53414A>T (p.Glu17805Val)
c.53039A>T (p.Glu17680Val)
c.80234A>T (p.Glu26745Val)
c.75311A>T (p.Glu25104Val)
n.447-5402T>A
n.2044-16674T>A
c.79331A>T (p.Glu26444Val)
c.53225A>T (p.Glu17742Val)
c.53084A>T (p.Glu17695Val)
c.79127A>T (p.Glu26376Val)
c.74525A>T (p.Glu24842Val)
c.74522A>T (p.Glu24841Val)
c.71564A>T (p.Glu23855Val)
c.53180A>T (p.Glu17727Val)
c.74675A>T (p.Glu24892Val)
c.74672A>T (p.Glu24891Val)
c.74105A>T (p.Glu24702Val)
c.71447A>T (p.Glu23816Val)
c.71366A>T (p.Glu23789Val)
c.53129A>T (p.Glu17710Val)
c.42983A>T (p.Glu14328Val)
2g.178565898T>CCA349590038TTN,TTN-AS1c.72530A>G (p.Glu24177Gly)
c.53615A>G (p.Glu17872Gly)
c.53414A>G (p.Glu17805Gly)
c.53039A>G (p.Glu17680Gly)
c.80234A>G (p.Glu26745Gly)
c.75311A>G (p.Glu25104Gly)
n.447-5402T>C
n.2044-16674T>C
c.79331A>G (p.Glu26444Gly)
c.53225A>G (p.Glu17742Gly)
c.53084A>G (p.Glu17695Gly)
c.79127A>G (p.Glu26376Gly)
c.74525A>G (p.Glu24842Gly)
c.74522A>G (p.Glu24841Gly)
c.71564A>G (p.Glu23855Gly)
c.53180A>G (p.Glu17727Gly)
c.74675A>G (p.Glu24892Gly)
c.74672A>G (p.Glu24891Gly)
c.74105A>G (p.Glu24702Gly)
c.71447A>G (p.Glu23816Gly)
c.71366A>G (p.Glu23789Gly)
c.53129A>G (p.Glu17710Gly)
c.42983A>G (p.Glu14328Gly)
2g.178565898T>GCA349590041TTN,TTN-AS1c.72530A>C (p.Glu24177Ala)
c.53615A>C (p.Glu17872Ala)
c.53414A>C (p.Glu17805Ala)
c.53039A>C (p.Glu17680Ala)
c.80234A>C (p.Glu26745Ala)
c.75311A>C (p.Glu25104Ala)
n.447-5402T>G
n.2044-16674T>G
c.79331A>C (p.Glu26444Ala)
c.53225A>C (p.Glu17742Ala)
c.53084A>C (p.Glu17695Ala)
c.79127A>C (p.Glu26376Ala)
c.74525A>C (p.Glu24842Ala)
c.74522A>C (p.Glu24841Ala)
c.71564A>C (p.Glu23855Ala)
c.53180A>C (p.Glu17727Ala)
c.74675A>C (p.Glu24892Ala)
c.74672A>C (p.Glu24891Ala)
c.74105A>C (p.Glu24702Ala)
c.71447A>C (p.Glu23816Ala)
c.71366A>C (p.Glu23789Ala)
c.53129A>C (p.Glu17710Ala)
c.42983A>C (p.Glu14328Ala)
2g.178565899C>ACA349590044TTN,TTN-AS1c.72529G>T (p.Glu24177Ter)
c.53614G>T (p.Glu17872Ter)
c.53413G>T (p.Glu17805Ter)
c.53038G>T (p.Glu17680Ter)
c.80233G>T (p.Glu26745Ter)
c.75310G>T (p.Glu25104Ter)
n.447-5401C>A
n.2044-16673C>A
c.79330G>T (p.Glu26444Ter)
c.53224G>T (p.Glu17742Ter)
c.53083G>T (p.Glu17695Ter)
c.79126G>T (p.Glu26376Ter)
c.74524G>T (p.Glu24842Ter)
c.74521G>T (p.Glu24841Ter)
c.71563G>T (p.Glu23855Ter)
c.53179G>T (p.Glu17727Ter)
c.74674G>T (p.Glu24892Ter)
c.74671G>T (p.Glu24891Ter)
c.74104G>T (p.Glu24702Ter)
c.71446G>T (p.Glu23816Ter)
c.71365G>T (p.Glu23789Ter)
c.53128G>T (p.Glu17710Ter)
c.42982G>T (p.Glu14328Ter)
2g.178565899C>GCA349590053TTN,TTN-AS1c.72529G>C (p.Glu24177Gln)
c.53614G>C (p.Glu17872Gln)
c.53413G>C (p.Glu17805Gln)
c.53038G>C (p.Glu17680Gln)
c.80233G>C (p.Glu26745Gln)
c.75310G>C (p.Glu25104Gln)
n.447-5401C>G
n.2044-16673C>G
c.79330G>C (p.Glu26444Gln)
c.53224G>C (p.Glu17742Gln)
c.53083G>C (p.Glu17695Gln)
c.79126G>C (p.Glu26376Gln)
c.74524G>C (p.Glu24842Gln)
c.74521G>C (p.Glu24841Gln)
c.71563G>C (p.Glu23855Gln)
c.53179G>C (p.Glu17727Gln)
c.74674G>C (p.Glu24892Gln)
c.74671G>C (p.Glu24891Gln)
c.74104G>C (p.Glu24702Gln)
c.71446G>C (p.Glu23816Gln)
c.71365G>C (p.Glu23789Gln)
c.53128G>C (p.Glu17710Gln)
c.42982G>C (p.Glu14328Gln)
gnomAD v4
2g.178565899C>TCA349590049TTN,TTN-AS1c.72529G>A (p.Glu24177Lys)
c.53614G>A (p.Glu17872Lys)
c.53413G>A (p.Glu17805Lys)
c.53038G>A (p.Glu17680Lys)
c.80233G>A (p.Glu26745Lys)
c.75310G>A (p.Glu25104Lys)
n.447-5401C>T
n.2044-16673C>T
c.79330G>A (p.Glu26444Lys)
c.53224G>A (p.Glu17742Lys)
c.53083G>A (p.Glu17695Lys)
c.79126G>A (p.Glu26376Lys)
c.74524G>A (p.Glu24842Lys)
c.74521G>A (p.Glu24841Lys)
c.71563G>A (p.Glu23855Lys)
c.53179G>A (p.Glu17727Lys)
c.74674G>A (p.Glu24892Lys)
c.74671G>A (p.Glu24891Lys)
c.74104G>A (p.Glu24702Lys)
c.71446G>A (p.Glu23816Lys)
c.71365G>A (p.Glu23789Lys)
c.53128G>A (p.Glu17710Lys)
c.42982G>A (p.Glu14328Lys)
2g.178565899_178565902delCA2662129126TTN,TTN-AS1c.72526_72529del (p.Val24176LysfsTer?)
c.53611_53614del (p.Val17871LysfsTer?)
c.53410_53413del (p.Val17804LysfsTer?)
c.53035_53038del (p.Val17679LysfsTer?)
c.80230_80233del (p.Val26744LysfsTer?)
c.75307_75310del (p.Val25103LysfsTer?)
n.447-5401_447-5398del
n.2044-16673_2044-16670del
c.79327_79330del (p.Val26443LysfsTer?)
c.53221_53224del (p.Val17741LysfsTer?)
c.53080_53083del (p.Val17694LysfsTer?)
c.79123_79126del (p.Val26375LysfsTer?)
c.74521_74524del (p.Val24841LysfsTer?)
c.74518_74521del (p.Val24840LysfsTer?)
c.71560_71563del (p.Val23854LysfsTer?)
c.53176_53179del (p.Val17726LysfsTer?)
c.74671_74674del (p.Val24891LysfsTer?)
c.74668_74671del (p.Val24890LysfsTer?)
c.74101_74104del (p.Val24701LysfsTer?)
c.71443_71446del (p.Val23815LysfsTer?)
c.71362_71365del (p.Val23788LysfsTer?)
c.53125_53128del (p.Val17709LysfsTer?)
c.42979_42982del (p.Val14327LysfsTer?)
gnomAD v4
2g.178565900C>ACA430252115TTN,TTN-AS1c.72528G>T (p.Val24176=)
c.53613G>T (p.Val17871=)
c.53412G>T (p.Val17804=)
c.53037G>T (p.Val17679=)
c.80232G>T (p.Val26744=)
c.75309G>T (p.Val25103=)
n.447-5400C>A
n.2044-16672C>A
c.79329G>T (p.Val26443=)
c.53223G>T (p.Val17741=)
c.53082G>T (p.Val17694=)
c.79125G>T (p.Val26375=)
c.74523G>T (p.Val24841=)
c.74520G>T (p.Val24840=)
c.71562G>T (p.Val23854=)
c.53178G>T (p.Val17726=)
c.74673G>T (p.Val24891=)
c.74670G>T (p.Val24890=)
c.74103G>T (p.Val24701=)
c.71445G>T (p.Val23815=)
c.71364G>T (p.Val23788=)
c.53127G>T (p.Val17709=)
c.42981G>T (p.Val14327=)
2g.178565900C>GCA430252116TTN,TTN-AS1c.72528G>C (p.Val24176=)
c.53613G>C (p.Val17871=)
c.53412G>C (p.Val17804=)
c.53037G>C (p.Val17679=)
c.80232G>C (p.Val26744=)
c.75309G>C (p.Val25103=)
n.447-5400C>G
n.2044-16672C>G
c.79329G>C (p.Val26443=)
c.53223G>C (p.Val17741=)
c.53082G>C (p.Val17694=)
c.79125G>C (p.Val26375=)
c.74523G>C (p.Val24841=)
c.74520G>C (p.Val24840=)
c.71562G>C (p.Val23854=)
c.53178G>C (p.Val17726=)
c.74673G>C (p.Val24891=)
c.74670G>C (p.Val24890=)
c.74103G>C (p.Val24701=)
c.71445G>C (p.Val23815=)
c.71364G>C (p.Val23788=)
c.53127G>C (p.Val17709=)
c.42981G>C (p.Val14327=)
2g.178565900C>TCA430252117TTN,TTN-AS1c.72528G>A (p.Val24176=)
c.53613G>A (p.Val17871=)
c.53412G>A (p.Val17804=)
c.53037G>A (p.Val17679=)
c.80232G>A (p.Val26744=)
c.75309G>A (p.Val25103=)
n.447-5400C>T
n.2044-16672C>T
c.79329G>A (p.Val26443=)
c.53223G>A (p.Val17741=)
c.53082G>A (p.Val17694=)
c.79125G>A (p.Val26375=)
c.74523G>A (p.Val24841=)
c.74520G>A (p.Val24840=)
c.71562G>A (p.Val23854=)
c.53178G>A (p.Val17726=)
c.74673G>A (p.Val24891=)
c.74670G>A (p.Val24890=)
c.74103G>A (p.Val24701=)
c.71445G>A (p.Val23815=)
c.71364G>A (p.Val23788=)
c.53127G>A (p.Val17709=)
c.42981G>A (p.Val14327=)
2g.178565901A>CCA349590056TTN,TTN-AS1c.72527T>G (p.Val24176Gly)
c.53612T>G (p.Val17871Gly)
c.53411T>G (p.Val17804Gly)
c.53036T>G (p.Val17679Gly)
c.80231T>G (p.Val26744Gly)
c.75308T>G (p.Val25103Gly)
n.447-5399A>C
n.2044-16671A>C
c.79328T>G (p.Val26443Gly)
c.53222T>G (p.Val17741Gly)
c.53081T>G (p.Val17694Gly)
c.79124T>G (p.Val26375Gly)
c.74522T>G (p.Val24841Gly)
c.74519T>G (p.Val24840Gly)
c.71561T>G (p.Val23854Gly)
c.53177T>G (p.Val17726Gly)
c.74672T>G (p.Val24891Gly)
c.74669T>G (p.Val24890Gly)
c.74102T>G (p.Val24701Gly)
c.71444T>G (p.Val23815Gly)
c.71363T>G (p.Val23788Gly)
c.53126T>G (p.Val17709Gly)
c.42980T>G (p.Val14327Gly)
2g.178565901A>GCA349590061TTN,TTN-AS1c.72527T>C (p.Val24176Ala)
c.53612T>C (p.Val17871Ala)
c.53411T>C (p.Val17804Ala)
c.53036T>C (p.Val17679Ala)
c.80231T>C (p.Val26744Ala)
c.75308T>C (p.Val25103Ala)
n.447-5399A>G
n.2044-16671A>G
c.79328T>C (p.Val26443Ala)
c.53222T>C (p.Val17741Ala)
c.53081T>C (p.Val17694Ala)
c.79124T>C (p.Val26375Ala)
c.74522T>C (p.Val24841Ala)
c.74519T>C (p.Val24840Ala)
c.71561T>C (p.Val23854Ala)
c.53177T>C (p.Val17726Ala)
c.74672T>C (p.Val24891Ala)
c.74669T>C (p.Val24890Ala)
c.74102T>C (p.Val24701Ala)
c.71444T>C (p.Val23815Ala)
c.71363T>C (p.Val23788Ala)
c.53126T>C (p.Val17709Ala)
c.42980T>C (p.Val14327Ala)
gnomAD v4
2g.178565901A>TCA349590062TTN,TTN-AS1c.72527T>A (p.Val24176Glu)
c.53612T>A (p.Val17871Glu)
c.53411T>A (p.Val17804Glu)
c.53036T>A (p.Val17679Glu)
c.80231T>A (p.Val26744Glu)
c.75308T>A (p.Val25103Glu)
n.447-5399A>T
n.2044-16671A>T
c.79328T>A (p.Val26443Glu)
c.53222T>A (p.Val17741Glu)
c.53081T>A (p.Val17694Glu)
c.79124T>A (p.Val26375Glu)
c.74522T>A (p.Val24841Glu)
c.74519T>A (p.Val24840Glu)
c.71561T>A (p.Val23854Glu)
c.53177T>A (p.Val17726Glu)
c.74672T>A (p.Val24891Glu)
c.74669T>A (p.Val24890Glu)
c.74102T>A (p.Val24701Glu)
c.71444T>A (p.Val23815Glu)
c.71363T>A (p.Val23788Glu)
c.53126T>A (p.Val17709Glu)
c.42980T>A (p.Val14327Glu)
2g.178565902C>ACA349590068TTN,TTN-AS1c.72526G>T (p.Val24176Leu)
c.53611G>T (p.Val17871Leu)
c.53410G>T (p.Val17804Leu)
c.53035G>T (p.Val17679Leu)
c.80230G>T (p.Val26744Leu)
c.75307G>T (p.Val25103Leu)
n.447-5398C>A
n.2044-16670C>A
c.79327G>T (p.Val26443Leu)
c.53221G>T (p.Val17741Leu)
c.53080G>T (p.Val17694Leu)
c.79123G>T (p.Val26375Leu)
c.74521G>T (p.Val24841Leu)
c.74518G>T (p.Val24840Leu)
c.71560G>T (p.Val23854Leu)
c.53176G>T (p.Val17726Leu)
c.74671G>T (p.Val24891Leu)
c.74668G>T (p.Val24890Leu)
c.74101G>T (p.Val24701Leu)
c.71443G>T (p.Val23815Leu)
c.71362G>T (p.Val23788Leu)
c.53125G>T (p.Val17709Leu)
c.42979G>T (p.Val14327Leu)

Number of alleles fetched