Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178565887C>A | CA349589939 | TTN,TTN-AS1 | c.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) | |
2 | g.178565887C>G | CA349589941 | TTN,TTN-AS1 | c.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) | |
2 | g.178565887C>T | CA349589940 | TTN,TTN-AS1 | c.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 |
2 | g.178565888T>A | CA430252087 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565888T>C | CA430252088 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565888T>G | CA430252086 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565889G>A | CA349589943 | TTN,TTN-AS1 | c.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 |
2 | g.178565889G>C | CA349589945 | TTN,TTN-AS1 | c.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 |
2 | g.178565889G>T | CA349589947 | TTN,TTN-AS1 | c.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) | |
2 | g.178565890T>A | CA349589958 | TTN,TTN-AS1 | c.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) | |
2 | g.178565890T>C | CA349589960 | TTN,TTN-AS1 | c.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 |
2 | g.178565890T>G | CA349589961 | TTN,TTN-AS1 | c.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) | |
2 | g.178565891A>C | CA430252096 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565891A>G | CA430252095 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565891A>T | CA430252092 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565892A>C | CA349589962 | TTN,TTN-AS1 | c.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) | |
2 | g.178565892A>G | CA349589963 | TTN,TTN-AS1 | c.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) | |
2 | g.178565892A>T | CA349589965 | TTN,TTN-AS1 | c.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) | |
2 | g.178565893G>A | CA349589971 | TTN,TTN-AS1 | c.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) | |
2 | g.178565893G>C | CA349589977 | TTN,TTN-AS1 | c.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) | |
2 | g.178565893G= | CA1310529305 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565893G>T | CA1989374 | TTN,TTN-AS1 | c.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 |
2 | g.178565894G>A | CA430252100 | TTN,TTN-AS1 | c.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 |
2 | g.178565894G>C | CA349589989 | TTN,TTN-AS1 | c.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 |
2 | g.178565894G= | CA1310529306 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565894G>T | CA349589992 | TTN,TTN-AS1 | c.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) | |
2 | g.178565895T>A | CA349589998 | TTN,TTN-AS1 | c.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) | |
2 | g.178565895T>C | CA349590002 | TTN,TTN-AS1 | c.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 |
2 | g.178565895T>G | CA349590007 | TTN,TTN-AS1 | c.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) | |
2 | g.178565895T= | CA1310529307 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565896T>A | CA349590015 | TTN,TTN-AS1 | c.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) | |
2 | g.178565896T>C | CA349590010 | TTN,TTN-AS1 | c.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) | |
2 | g.178565896T>G | CA349590013 | TTN,TTN-AS1 | c.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 |
2 | g.178565897T>A | CA349590017 | TTN,TTN-AS1 | c.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) | |
2 | g.178565897T>C | CA430252107 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565897T>G | CA349590022 | TTN,TTN-AS1 | c.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) | |
2 | g.178565898T>A | CA349590034 | TTN,TTN-AS1 | c.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) | |
2 | g.178565898T>C | CA349590038 | TTN,TTN-AS1 | c.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) | |
2 | g.178565898T>G | CA349590041 | TTN,TTN-AS1 | c.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) | |
2 | g.178565899C>A | CA349590044 | TTN,TTN-AS1 | c.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) | |
2 | g.178565899C>G | CA349590053 | TTN,TTN-AS1 | c.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 |
2 | g.178565899C>T | CA349590049 | TTN,TTN-AS1 | c.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) | |
2 | g.178565899_178565902del | CA2662129126 | TTN,TTN-AS1 | c.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 |
2 | g.178565900C>A | CA430252115 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565900C>G | CA430252116 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565900C>T | CA430252117 | TTN,TTN-AS1 | c.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=) | |
2 | g.178565901A>C | CA349590056 | TTN,TTN-AS1 | c.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) | |
2 | g.178565901A>G | CA349590061 | TTN,TTN-AS1 | c.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 |
2 | g.178565901A>T | CA349590062 | TTN,TTN-AS1 | c.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) | |
2 | g.178565902C>A | CA349590068 | TTN,TTN-AS1 | c.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) |