| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178566249C>A | CA60989644 | TTN,TTN-AS1 | c.72179G>T (p.Arg24060Leu) c.53264G>T (p.Arg17755Leu) c.53063G>T (p.Arg17688Leu) c.52688G>T (p.Arg17563Leu) c.79883G>T (p.Arg26628Leu) c.74960G>T (p.Arg24987Leu) n.447-5051C>A n.2044-16323C>A c.78980G>T (p.Arg26327Leu) c.52874G>T (p.Arg17625Leu) c.52733G>T (p.Arg17578Leu) c.78776G>T (p.Arg26259Leu) c.74174G>T (p.Arg24725Leu) c.74171G>T (p.Arg24724Leu) c.71213G>T (p.Arg23738Leu) c.52829G>T (p.Arg17610Leu) c.74324G>T (p.Arg24775Leu) c.74321G>T (p.Arg24774Leu) c.73754G>T (p.Arg24585Leu) c.71096G>T (p.Arg23699Leu) c.71015G>T (p.Arg23672Leu) c.52778G>T (p.Arg17593Leu) c.42632G>T (p.Arg14211Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178566249C= | CA1310529434 | TTN,TTN-AS1 | c.72179G= (p.Arg24060=) c.53264G= (p.Arg17755=) c.53063G= (p.Arg17688=) c.52688G= (p.Arg17563=) c.79883G= (p.Arg26628=) c.74960G= (p.Arg24987=) n.447-5051C= n.2044-16323C= c.78980G= (p.Arg26327=) c.52874G= (p.Arg17625=) c.52733G= (p.Arg17578=) c.78776G= (p.Arg26259=) c.74174G= (p.Arg24725=) c.74171G= (p.Arg24724=) c.71213G= (p.Arg23738=) c.52829G= (p.Arg17610=) c.74324G= (p.Arg24775=) c.74321G= (p.Arg24774=) c.73754G= (p.Arg24585=) c.71096G= (p.Arg23699=) c.71015G= (p.Arg23672=) c.52778G= (p.Arg17593=) c.42632G= (p.Arg14211=) | |
| 2 | g.178566249C>G | CA1989422 | TTN,TTN-AS1 | c.72179G>C (p.Arg24060Pro) c.53264G>C (p.Arg17755Pro) c.53063G>C (p.Arg17688Pro) c.52688G>C (p.Arg17563Pro) c.79883G>C (p.Arg26628Pro) c.74960G>C (p.Arg24987Pro) n.447-5051C>G n.2044-16323C>G c.78980G>C (p.Arg26327Pro) c.52874G>C (p.Arg17625Pro) c.52733G>C (p.Arg17578Pro) c.78776G>C (p.Arg26259Pro) c.74174G>C (p.Arg24725Pro) c.74171G>C (p.Arg24724Pro) c.71213G>C (p.Arg23738Pro) c.52829G>C (p.Arg17610Pro) c.74324G>C (p.Arg24775Pro) c.74321G>C (p.Arg24774Pro) c.73754G>C (p.Arg24585Pro) c.71096G>C (p.Arg23699Pro) c.71015G>C (p.Arg23672Pro) c.52778G>C (p.Arg17593Pro) c.42632G>C (p.Arg14211Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178566249C>T | CA1989421 | TTN,TTN-AS1 | c.72179G>A (p.Arg24060Gln) c.53264G>A (p.Arg17755Gln) c.53063G>A (p.Arg17688Gln) c.52688G>A (p.Arg17563Gln) c.79883G>A (p.Arg26628Gln) c.74960G>A (p.Arg24987Gln) n.447-5051C>T n.2044-16323C>T c.78980G>A (p.Arg26327Gln) c.52874G>A (p.Arg17625Gln) c.52733G>A (p.Arg17578Gln) c.78776G>A (p.Arg26259Gln) c.74174G>A (p.Arg24725Gln) c.74171G>A (p.Arg24724Gln) c.71213G>A (p.Arg23738Gln) c.52829G>A (p.Arg17610Gln) c.74324G>A (p.Arg24775Gln) c.74321G>A (p.Arg24774Gln) c.73754G>A (p.Arg24585Gln) c.71096G>A (p.Arg23699Gln) c.71015G>A (p.Arg23672Gln) c.52778G>A (p.Arg17593Gln) c.42632G>A (p.Arg14211Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178566250G>A | CA349593133 | TTN,TTN-AS1 | c.72178C>T (p.Arg24060Ter) c.53263C>T (p.Arg17755Ter) c.53062C>T (p.Arg17688Ter) c.52687C>T (p.Arg17563Ter) c.79882C>T (p.Arg26628Ter) c.74959C>T (p.Arg24987Ter) n.447-5050G>A n.2044-16322G>A c.78979C>T (p.Arg26327Ter) c.52873C>T (p.Arg17625Ter) c.52732C>T (p.Arg17578Ter) c.78775C>T (p.Arg26259Ter) c.74173C>T (p.Arg24725Ter) c.74170C>T (p.Arg24724Ter) c.71212C>T (p.Arg23738Ter) c.52828C>T (p.Arg17610Ter) c.74323C>T (p.Arg24775Ter) c.74320C>T (p.Arg24774Ter) c.73753C>T (p.Arg24585Ter) c.71095C>T (p.Arg23699Ter) c.71014C>T (p.Arg23672Ter) c.52777C>T (p.Arg17593Ter) c.42631C>T (p.Arg14211Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178566250G>C | CA349593135 | TTN,TTN-AS1 | c.72178C>G (p.Arg24060Gly) c.53263C>G (p.Arg17755Gly) c.53062C>G (p.Arg17688Gly) c.52687C>G (p.Arg17563Gly) c.79882C>G (p.Arg26628Gly) c.74959C>G (p.Arg24987Gly) n.447-5050G>C n.2044-16322G>C c.78979C>G (p.Arg26327Gly) c.52873C>G (p.Arg17625Gly) c.52732C>G (p.Arg17578Gly) c.78775C>G (p.Arg26259Gly) c.74173C>G (p.Arg24725Gly) c.74170C>G (p.Arg24724Gly) c.71212C>G (p.Arg23738Gly) c.52828C>G (p.Arg17610Gly) c.74323C>G (p.Arg24775Gly) c.74320C>G (p.Arg24774Gly) c.73753C>G (p.Arg24585Gly) c.71095C>G (p.Arg23699Gly) c.71014C>G (p.Arg23672Gly) c.52777C>G (p.Arg17593Gly) c.42631C>G (p.Arg14211Gly) | |
| 2 | g.178566250G= | CA1310529435 | TTN,TTN-AS1 | c.72178C= (p.Arg24060=) c.53263C= (p.Arg17755=) c.53062C= (p.Arg17688=) c.52687C= (p.Arg17563=) c.79882C= (p.Arg26628=) c.74959C= (p.Arg24987=) n.447-5050G= n.2044-16322G= c.78979C= (p.Arg26327=) c.52873C= (p.Arg17625=) c.52732C= (p.Arg17578=) c.78775C= (p.Arg26259=) c.74173C= (p.Arg24725=) c.74170C= (p.Arg24724=) c.71212C= (p.Arg23738=) c.52828C= (p.Arg17610=) c.74323C= (p.Arg24775=) c.74320C= (p.Arg24774=) c.73753C= (p.Arg24585=) c.71095C= (p.Arg23699=) c.71014C= (p.Arg23672=) c.52777C= (p.Arg17593=) c.42631C= (p.Arg14211=) | |
| 2 | g.178566250G>T | CA430252442 | TTN,TTN-AS1 | c.72178C>A (p.Arg24060=) c.53263C>A (p.Arg17755=) c.53062C>A (p.Arg17688=) c.52687C>A (p.Arg17563=) c.79882C>A (p.Arg26628=) c.74959C>A (p.Arg24987=) n.447-5050G>T n.2044-16322G>T c.78979C>A (p.Arg26327=) c.52873C>A (p.Arg17625=) c.52732C>A (p.Arg17578=) c.78775C>A (p.Arg26259=) c.74173C>A (p.Arg24725=) c.74170C>A (p.Arg24724=) c.71212C>A (p.Arg23738=) c.52828C>A (p.Arg17610=) c.74323C>A (p.Arg24775=) c.74320C>A (p.Arg24774=) c.73753C>A (p.Arg24585=) c.71095C>A (p.Arg23699=) c.71014C>A (p.Arg23672=) c.52777C>A (p.Arg17593=) c.42631C>A (p.Arg14211=) | |
| 2 | g.178566251A>C | CA430252443 | TTN,TTN-AS1 | c.72177T>G (p.Ser24059=) c.53262T>G (p.Ser17754=) c.53061T>G (p.Ser17687=) c.52686T>G (p.Ser17562=) c.79881T>G (p.Ser26627=) c.74958T>G (p.Ser24986=) n.447-5049A>C n.2044-16321A>C c.78978T>G (p.Ser26326=) c.52872T>G (p.Ser17624=) c.52731T>G (p.Ser17577=) c.78774T>G (p.Ser26258=) c.74172T>G (p.Ser24724=) c.74169T>G (p.Ser24723=) c.71211T>G (p.Ser23737=) c.52827T>G (p.Ser17609=) c.74322T>G (p.Ser24774=) c.74319T>G (p.Ser24773=) c.73752T>G (p.Ser24584=) c.71094T>G (p.Ser23698=) c.71013T>G (p.Ser23671=) c.52776T>G (p.Ser17592=) c.42630T>G (p.Ser14210=) | |
| 2 | g.178566251A>G | CA430252444 | TTN,TTN-AS1 | c.72177T>C (p.Ser24059=) c.53262T>C (p.Ser17754=) c.53061T>C (p.Ser17687=) c.52686T>C (p.Ser17562=) c.79881T>C (p.Ser26627=) c.74958T>C (p.Ser24986=) n.447-5049A>G n.2044-16321A>G c.78978T>C (p.Ser26326=) c.52872T>C (p.Ser17624=) c.52731T>C (p.Ser17577=) c.78774T>C (p.Ser26258=) c.74172T>C (p.Ser24724=) c.74169T>C (p.Ser24723=) c.71211T>C (p.Ser23737=) c.52827T>C (p.Ser17609=) c.74322T>C (p.Ser24774=) c.74319T>C (p.Ser24773=) c.73752T>C (p.Ser24584=) c.71094T>C (p.Ser23698=) c.71013T>C (p.Ser23671=) c.52776T>C (p.Ser17592=) c.42630T>C (p.Ser14210=) | |
| 2 | g.178566251A>T | CA430252445 | TTN,TTN-AS1 | c.72177T>A (p.Ser24059=) c.53262T>A (p.Ser17754=) c.53061T>A (p.Ser17687=) c.52686T>A (p.Ser17562=) c.79881T>A (p.Ser26627=) c.74958T>A (p.Ser24986=) n.447-5049A>T n.2044-16321A>T c.78978T>A (p.Ser26326=) c.52872T>A (p.Ser17624=) c.52731T>A (p.Ser17577=) c.78774T>A (p.Ser26258=) c.74172T>A (p.Ser24724=) c.74169T>A (p.Ser24723=) c.71211T>A (p.Ser23737=) c.52827T>A (p.Ser17609=) c.74322T>A (p.Ser24774=) c.74319T>A (p.Ser24773=) c.73752T>A (p.Ser24584=) c.71094T>A (p.Ser23698=) c.71013T>A (p.Ser23671=) c.52776T>A (p.Ser17592=) c.42630T>A (p.Ser14210=) | |
| 2 | g.178566251dup | CA10581138 | TTN,TTN-AS1 | c.72177dup (p.Arg24060SerfsTer5) c.53262dup (p.Arg17755SerfsTer5) c.53061dup (p.Arg17688SerfsTer5) c.52686dup (p.Arg17563SerfsTer5) c.79881dup (p.Arg26628SerfsTer5) c.74958dup (p.Arg24987SerfsTer5) n.447-5049dup n.2044-16321dup c.78978dup (p.Arg26327SerfsTer5) c.52872dup (p.Arg17625SerfsTer5) c.52731dup (p.Arg17578SerfsTer5) c.78774dup (p.Arg26259SerfsTer5) c.74172dup (p.Arg24725SerfsTer5) c.74169dup (p.Arg24724SerfsTer5) c.71211dup (p.Arg23738SerfsTer5) c.52827dup (p.Arg17610SerfsTer5) c.74322dup (p.Arg24775SerfsTer5) c.74319dup (p.Arg24774SerfsTer5) c.73752dup (p.Arg24585SerfsTer5) c.71094dup (p.Arg23699SerfsTer5) c.71013dup (p.Arg23672SerfsTer5) c.52776dup (p.Arg17593SerfsTer5) c.42630dup (p.Arg14211SerfsTer5) | ClinVar dbSNP |
| 2 | g.178566252G>A | CA349593143 | TTN,TTN-AS1 | c.72176C>T (p.Ser24059Phe) c.53261C>T (p.Ser17754Phe) c.53060C>T (p.Ser17687Phe) c.52685C>T (p.Ser17562Phe) c.79880C>T (p.Ser26627Phe) c.74957C>T (p.Ser24986Phe) n.447-5048G>A n.2044-16320G>A c.78977C>T (p.Ser26326Phe) c.52871C>T (p.Ser17624Phe) c.52730C>T (p.Ser17577Phe) c.78773C>T (p.Ser26258Phe) c.74171C>T (p.Ser24724Phe) c.74168C>T (p.Ser24723Phe) c.71210C>T (p.Ser23737Phe) c.52826C>T (p.Ser17609Phe) c.74321C>T (p.Ser24774Phe) c.74318C>T (p.Ser24773Phe) c.73751C>T (p.Ser24584Phe) c.71093C>T (p.Ser23698Phe) c.71012C>T (p.Ser23671Phe) c.52775C>T (p.Ser17592Phe) c.42629C>T (p.Ser14210Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178566252G>C | CA349593147 | TTN,TTN-AS1 | c.72176C>G (p.Ser24059Cys) c.53261C>G (p.Ser17754Cys) c.53060C>G (p.Ser17687Cys) c.52685C>G (p.Ser17562Cys) c.79880C>G (p.Ser26627Cys) c.74957C>G (p.Ser24986Cys) n.447-5048G>C n.2044-16320G>C c.78977C>G (p.Ser26326Cys) c.52871C>G (p.Ser17624Cys) c.52730C>G (p.Ser17577Cys) c.78773C>G (p.Ser26258Cys) c.74171C>G (p.Ser24724Cys) c.74168C>G (p.Ser24723Cys) c.71210C>G (p.Ser23737Cys) c.52826C>G (p.Ser17609Cys) c.74321C>G (p.Ser24774Cys) c.74318C>G (p.Ser24773Cys) c.73751C>G (p.Ser24584Cys) c.71093C>G (p.Ser23698Cys) c.71012C>G (p.Ser23671Cys) c.52775C>G (p.Ser17592Cys) c.42629C>G (p.Ser14210Cys) | gnomAD v4 |
| 2 | g.178566252G= | CA1310529436 | TTN,TTN-AS1 | c.72176C= (p.Ser24059=) c.53261C= (p.Ser17754=) c.53060C= (p.Ser17687=) c.52685C= (p.Ser17562=) c.79880C= (p.Ser26627=) c.74957C= (p.Ser24986=) n.447-5048G= n.2044-16320G= c.78977C= (p.Ser26326=) c.52871C= (p.Ser17624=) c.52730C= (p.Ser17577=) c.78773C= (p.Ser26258=) c.74171C= (p.Ser24724=) c.74168C= (p.Ser24723=) c.71210C= (p.Ser23737=) c.52826C= (p.Ser17609=) c.74321C= (p.Ser24774=) c.74318C= (p.Ser24773=) c.73751C= (p.Ser24584=) c.71093C= (p.Ser23698=) c.71012C= (p.Ser23671=) c.52775C= (p.Ser17592=) c.42629C= (p.Ser14210=) | |
| 2 | g.178566252G>T | CA349593145 | TTN,TTN-AS1 | c.72176C>A (p.Ser24059Tyr) c.53261C>A (p.Ser17754Tyr) c.53060C>A (p.Ser17687Tyr) c.52685C>A (p.Ser17562Tyr) c.79880C>A (p.Ser26627Tyr) c.74957C>A (p.Ser24986Tyr) n.447-5048G>T n.2044-16320G>T c.78977C>A (p.Ser26326Tyr) c.52871C>A (p.Ser17624Tyr) c.52730C>A (p.Ser17577Tyr) c.78773C>A (p.Ser26258Tyr) c.74171C>A (p.Ser24724Tyr) c.74168C>A (p.Ser24723Tyr) c.71210C>A (p.Ser23737Tyr) c.52826C>A (p.Ser17609Tyr) c.74321C>A (p.Ser24774Tyr) c.74318C>A (p.Ser24773Tyr) c.73751C>A (p.Ser24584Tyr) c.71093C>A (p.Ser23698Tyr) c.71012C>A (p.Ser23671Tyr) c.52775C>A (p.Ser17592Tyr) c.42629C>A (p.Ser14210Tyr) | |
| 2 | g.178566253A>C | CA349593149 | TTN,TTN-AS1 | c.72175T>G (p.Ser24059Ala) c.53260T>G (p.Ser17754Ala) c.53059T>G (p.Ser17687Ala) c.52684T>G (p.Ser17562Ala) c.79879T>G (p.Ser26627Ala) c.74956T>G (p.Ser24986Ala) n.447-5047A>C n.2044-16319A>C c.78976T>G (p.Ser26326Ala) c.52870T>G (p.Ser17624Ala) c.52729T>G (p.Ser17577Ala) c.78772T>G (p.Ser26258Ala) c.74170T>G (p.Ser24724Ala) c.74167T>G (p.Ser24723Ala) c.71209T>G (p.Ser23737Ala) c.52825T>G (p.Ser17609Ala) c.74320T>G (p.Ser24774Ala) c.74317T>G (p.Ser24773Ala) c.73750T>G (p.Ser24584Ala) c.71092T>G (p.Ser23698Ala) c.71011T>G (p.Ser23671Ala) c.52774T>G (p.Ser17592Ala) c.42628T>G (p.Ser14210Ala) | |
| 2 | g.178566253A>G | CA349593155 | TTN,TTN-AS1 | c.72175T>C (p.Ser24059Pro) c.53260T>C (p.Ser17754Pro) c.53059T>C (p.Ser17687Pro) c.52684T>C (p.Ser17562Pro) c.79879T>C (p.Ser26627Pro) c.74956T>C (p.Ser24986Pro) n.447-5047A>G n.2044-16319A>G c.78976T>C (p.Ser26326Pro) c.52870T>C (p.Ser17624Pro) c.52729T>C (p.Ser17577Pro) c.78772T>C (p.Ser26258Pro) c.74170T>C (p.Ser24724Pro) c.74167T>C (p.Ser24723Pro) c.71209T>C (p.Ser23737Pro) c.52825T>C (p.Ser17609Pro) c.74320T>C (p.Ser24774Pro) c.74317T>C (p.Ser24773Pro) c.73750T>C (p.Ser24584Pro) c.71092T>C (p.Ser23698Pro) c.71011T>C (p.Ser23671Pro) c.52774T>C (p.Ser17592Pro) c.42628T>C (p.Ser14210Pro) | |
| 2 | g.178566253A>T | CA349593151 | TTN,TTN-AS1 | c.72175T>A (p.Ser24059Thr) c.53260T>A (p.Ser17754Thr) c.53059T>A (p.Ser17687Thr) c.52684T>A (p.Ser17562Thr) c.79879T>A (p.Ser26627Thr) c.74956T>A (p.Ser24986Thr) n.447-5047A>T n.2044-16319A>T c.78976T>A (p.Ser26326Thr) c.52870T>A (p.Ser17624Thr) c.52729T>A (p.Ser17577Thr) c.78772T>A (p.Ser26258Thr) c.74170T>A (p.Ser24724Thr) c.74167T>A (p.Ser24723Thr) c.71209T>A (p.Ser23737Thr) c.52825T>A (p.Ser17609Thr) c.74320T>A (p.Ser24774Thr) c.74317T>A (p.Ser24773Thr) c.73750T>A (p.Ser24584Thr) c.71092T>A (p.Ser23698Thr) c.71011T>A (p.Ser23671Thr) c.52774T>A (p.Ser17592Thr) c.42628T>A (p.Ser14210Thr) | |
| 2 | g.178566254C>A | CA349593159 | TTN,TTN-AS1 | c.72174G>T (p.Trp24058Cys) c.53259G>T (p.Trp17753Cys) c.53058G>T (p.Trp17686Cys) c.52683G>T (p.Trp17561Cys) c.79878G>T (p.Trp26626Cys) c.74955G>T (p.Trp24985Cys) n.447-5046C>A n.2044-16318C>A c.78975G>T (p.Trp26325Cys) c.52869G>T (p.Trp17623Cys) c.52728G>T (p.Trp17576Cys) c.78771G>T (p.Trp26257Cys) c.74169G>T (p.Trp24723Cys) c.74166G>T (p.Trp24722Cys) c.71208G>T (p.Trp23736Cys) c.52824G>T (p.Trp17608Cys) c.74319G>T (p.Trp24773Cys) c.74316G>T (p.Trp24772Cys) c.73749G>T (p.Trp24583Cys) c.71091G>T (p.Trp23697Cys) c.71010G>T (p.Trp23670Cys) c.52773G>T (p.Trp17591Cys) c.42627G>T (p.Trp14209Cys) | |
| 2 | g.178566254C= | CA1310529437 | TTN,TTN-AS1 | c.72174G= (p.Trp24058=) c.53259G= (p.Trp17753=) c.53058G= (p.Trp17686=) c.52683G= (p.Trp17561=) c.79878G= (p.Trp26626=) c.74955G= (p.Trp24985=) n.447-5046C= n.2044-16318C= c.78975G= (p.Trp26325=) c.52869G= (p.Trp17623=) c.52728G= (p.Trp17576=) c.78771G= (p.Trp26257=) c.74169G= (p.Trp24723=) c.74166G= (p.Trp24722=) c.71208G= (p.Trp23736=) c.52824G= (p.Trp17608=) c.74319G= (p.Trp24773=) c.74316G= (p.Trp24772=) c.73749G= (p.Trp24583=) c.71091G= (p.Trp23697=) c.71010G= (p.Trp23670=) c.52773G= (p.Trp17591=) c.42627G= (p.Trp14209=) | |
| 2 | g.178566254C>G | CA349593167 | TTN,TTN-AS1 | c.72174G>C (p.Trp24058Cys) c.53259G>C (p.Trp17753Cys) c.53058G>C (p.Trp17686Cys) c.52683G>C (p.Trp17561Cys) c.79878G>C (p.Trp26626Cys) c.74955G>C (p.Trp24985Cys) n.447-5046C>G n.2044-16318C>G c.78975G>C (p.Trp26325Cys) c.52869G>C (p.Trp17623Cys) c.52728G>C (p.Trp17576Cys) c.78771G>C (p.Trp26257Cys) c.74169G>C (p.Trp24723Cys) c.74166G>C (p.Trp24722Cys) c.71208G>C (p.Trp23736Cys) c.52824G>C (p.Trp17608Cys) c.74319G>C (p.Trp24773Cys) c.74316G>C (p.Trp24772Cys) c.73749G>C (p.Trp24583Cys) c.71091G>C (p.Trp23697Cys) c.71010G>C (p.Trp23670Cys) c.52773G>C (p.Trp17591Cys) c.42627G>C (p.Trp14209Cys) | |
| 2 | g.178566254C>T | CA349593163 | TTN,TTN-AS1 | c.72174G>A (p.Trp24058Ter) c.53259G>A (p.Trp17753Ter) c.53058G>A (p.Trp17686Ter) c.52683G>A (p.Trp17561Ter) c.79878G>A (p.Trp26626Ter) c.74955G>A (p.Trp24985Ter) n.447-5046C>T n.2044-16318C>T c.78975G>A (p.Trp26325Ter) c.52869G>A (p.Trp17623Ter) c.52728G>A (p.Trp17576Ter) c.78771G>A (p.Trp26257Ter) c.74169G>A (p.Trp24723Ter) c.74166G>A (p.Trp24722Ter) c.71208G>A (p.Trp23736Ter) c.52824G>A (p.Trp17608Ter) c.74319G>A (p.Trp24773Ter) c.74316G>A (p.Trp24772Ter) c.73749G>A (p.Trp24583Ter) c.71091G>A (p.Trp23697Ter) c.71010G>A (p.Trp23670Ter) c.52773G>A (p.Trp17591Ter) c.42627G>A (p.Trp14209Ter) | ClinVar dbSNP |
| 2 | g.178566255C>A | CA349593174 | TTN,TTN-AS1 | c.72173G>T (p.Trp24058Leu) c.53258G>T (p.Trp17753Leu) c.53057G>T (p.Trp17686Leu) c.52682G>T (p.Trp17561Leu) c.79877G>T (p.Trp26626Leu) c.74954G>T (p.Trp24985Leu) n.447-5045C>A n.2044-16317C>A c.78974G>T (p.Trp26325Leu) c.52868G>T (p.Trp17623Leu) c.52727G>T (p.Trp17576Leu) c.78770G>T (p.Trp26257Leu) c.74168G>T (p.Trp24723Leu) c.74165G>T (p.Trp24722Leu) c.71207G>T (p.Trp23736Leu) c.52823G>T (p.Trp17608Leu) c.74318G>T (p.Trp24773Leu) c.74315G>T (p.Trp24772Leu) c.73748G>T (p.Trp24583Leu) c.71090G>T (p.Trp23697Leu) c.71009G>T (p.Trp23670Leu) c.52772G>T (p.Trp17591Leu) c.42626G>T (p.Trp14209Leu) | |
| 2 | g.178566255C>G | CA349593189 | TTN,TTN-AS1 | c.72173G>C (p.Trp24058Ser) c.53258G>C (p.Trp17753Ser) c.53057G>C (p.Trp17686Ser) c.52682G>C (p.Trp17561Ser) c.79877G>C (p.Trp26626Ser) c.74954G>C (p.Trp24985Ser) n.447-5045C>G n.2044-16317C>G c.78974G>C (p.Trp26325Ser) c.52868G>C (p.Trp17623Ser) c.52727G>C (p.Trp17576Ser) c.78770G>C (p.Trp26257Ser) c.74168G>C (p.Trp24723Ser) c.74165G>C (p.Trp24722Ser) c.71207G>C (p.Trp23736Ser) c.52823G>C (p.Trp17608Ser) c.74318G>C (p.Trp24773Ser) c.74315G>C (p.Trp24772Ser) c.73748G>C (p.Trp24583Ser) c.71090G>C (p.Trp23697Ser) c.71009G>C (p.Trp23670Ser) c.52772G>C (p.Trp17591Ser) c.42626G>C (p.Trp14209Ser) | |
| 2 | g.178566255C>T | CA349593185 | TTN,TTN-AS1 | c.72173G>A (p.Trp24058Ter) c.53258G>A (p.Trp17753Ter) c.53057G>A (p.Trp17686Ter) c.52682G>A (p.Trp17561Ter) c.79877G>A (p.Trp26626Ter) c.74954G>A (p.Trp24985Ter) n.447-5045C>T n.2044-16317C>T c.78974G>A (p.Trp26325Ter) c.52868G>A (p.Trp17623Ter) c.52727G>A (p.Trp17576Ter) c.78770G>A (p.Trp26257Ter) c.74168G>A (p.Trp24723Ter) c.74165G>A (p.Trp24722Ter) c.71207G>A (p.Trp23736Ter) c.52823G>A (p.Trp17608Ter) c.74318G>A (p.Trp24773Ter) c.74315G>A (p.Trp24772Ter) c.73748G>A (p.Trp24583Ter) c.71090G>A (p.Trp23697Ter) c.71009G>A (p.Trp23670Ter) c.52772G>A (p.Trp17591Ter) c.42626G>A (p.Trp14209Ter) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178566256A>C | CA349593190 | TTN,TTN-AS1 | c.72172T>G (p.Trp24058Gly) c.53257T>G (p.Trp17753Gly) c.53056T>G (p.Trp17686Gly) c.52681T>G (p.Trp17561Gly) c.79876T>G (p.Trp26626Gly) c.74953T>G (p.Trp24985Gly) n.447-5044A>C n.2044-16316A>C c.78973T>G (p.Trp26325Gly) c.52867T>G (p.Trp17623Gly) c.52726T>G (p.Trp17576Gly) c.78769T>G (p.Trp26257Gly) c.74167T>G (p.Trp24723Gly) c.74164T>G (p.Trp24722Gly) c.71206T>G (p.Trp23736Gly) c.52822T>G (p.Trp17608Gly) c.74317T>G (p.Trp24773Gly) c.74314T>G (p.Trp24772Gly) c.73747T>G (p.Trp24583Gly) c.71089T>G (p.Trp23697Gly) c.71008T>G (p.Trp23670Gly) c.52771T>G (p.Trp17591Gly) c.42625T>G (p.Trp14209Gly) | |
| 2 | g.178566256A>G | CA349593191 | TTN,TTN-AS1 | c.72172T>C (p.Trp24058Arg) c.53257T>C (p.Trp17753Arg) c.53056T>C (p.Trp17686Arg) c.52681T>C (p.Trp17561Arg) c.79876T>C (p.Trp26626Arg) c.74953T>C (p.Trp24985Arg) n.447-5044A>G n.2044-16316A>G c.78973T>C (p.Trp26325Arg) c.52867T>C (p.Trp17623Arg) c.52726T>C (p.Trp17576Arg) c.78769T>C (p.Trp26257Arg) c.74167T>C (p.Trp24723Arg) c.74164T>C (p.Trp24722Arg) c.71206T>C (p.Trp23736Arg) c.52822T>C (p.Trp17608Arg) c.74317T>C (p.Trp24773Arg) c.74314T>C (p.Trp24772Arg) c.73747T>C (p.Trp24583Arg) c.71089T>C (p.Trp23697Arg) c.71008T>C (p.Trp23670Arg) c.52771T>C (p.Trp17591Arg) c.42625T>C (p.Trp14209Arg) | gnomAD v4 |
| 2 | g.178566256A>T | CA349593194 | TTN,TTN-AS1 | c.72172T>A (p.Trp24058Arg) c.53257T>A (p.Trp17753Arg) c.53056T>A (p.Trp17686Arg) c.52681T>A (p.Trp17561Arg) c.79876T>A (p.Trp26626Arg) c.74953T>A (p.Trp24985Arg) n.447-5044A>T n.2044-16316A>T c.78973T>A (p.Trp26325Arg) c.52867T>A (p.Trp17623Arg) c.52726T>A (p.Trp17576Arg) c.78769T>A (p.Trp26257Arg) c.74167T>A (p.Trp24723Arg) c.74164T>A (p.Trp24722Arg) c.71206T>A (p.Trp23736Arg) c.52822T>A (p.Trp17608Arg) c.74317T>A (p.Trp24773Arg) c.74314T>A (p.Trp24772Arg) c.73747T>A (p.Trp24583Arg) c.71089T>A (p.Trp23697Arg) c.71008T>A (p.Trp23670Arg) c.52771T>A (p.Trp17591Arg) c.42625T>A (p.Trp14209Arg) | |
| 2 | g.178566257A>C | CA430252450 | TTN,TTN-AS1 | c.72171T>G (p.Thr24057=) c.53256T>G (p.Thr17752=) c.53055T>G (p.Thr17685=) c.52680T>G (p.Thr17560=) c.79875T>G (p.Thr26625=) c.74952T>G (p.Thr24984=) n.447-5043A>C n.2044-16315A>C c.78972T>G (p.Thr26324=) c.52866T>G (p.Thr17622=) c.52725T>G (p.Thr17575=) c.78768T>G (p.Thr26256=) c.74166T>G (p.Thr24722=) c.74163T>G (p.Thr24721=) c.71205T>G (p.Thr23735=) c.52821T>G (p.Thr17607=) c.74316T>G (p.Thr24772=) c.74313T>G (p.Thr24771=) c.73746T>G (p.Thr24582=) c.71088T>G (p.Thr23696=) c.71007T>G (p.Thr23669=) c.52770T>G (p.Thr17590=) c.42624T>G (p.Thr14208=) | |
| 2 | g.178566257A>G | CA430252451 | TTN,TTN-AS1 | c.72171T>C (p.Thr24057=) c.53256T>C (p.Thr17752=) c.53055T>C (p.Thr17685=) c.52680T>C (p.Thr17560=) c.79875T>C (p.Thr26625=) c.74952T>C (p.Thr24984=) n.447-5043A>G n.2044-16315A>G c.78972T>C (p.Thr26324=) c.52866T>C (p.Thr17622=) c.52725T>C (p.Thr17575=) c.78768T>C (p.Thr26256=) c.74166T>C (p.Thr24722=) c.74163T>C (p.Thr24721=) c.71205T>C (p.Thr23735=) c.52821T>C (p.Thr17607=) c.74316T>C (p.Thr24772=) c.74313T>C (p.Thr24771=) c.73746T>C (p.Thr24582=) c.71088T>C (p.Thr23696=) c.71007T>C (p.Thr23669=) c.52770T>C (p.Thr17590=) c.42624T>C (p.Thr14208=) | |
| 2 | g.178566257A>T | CA430252452 | TTN,TTN-AS1 | c.72171T>A (p.Thr24057=) c.53256T>A (p.Thr17752=) c.53055T>A (p.Thr17685=) c.52680T>A (p.Thr17560=) c.79875T>A (p.Thr26625=) c.74952T>A (p.Thr24984=) n.447-5043A>T n.2044-16315A>T c.78972T>A (p.Thr26324=) c.52866T>A (p.Thr17622=) c.52725T>A (p.Thr17575=) c.78768T>A (p.Thr26256=) c.74166T>A (p.Thr24722=) c.74163T>A (p.Thr24721=) c.71205T>A (p.Thr23735=) c.52821T>A (p.Thr17607=) c.74316T>A (p.Thr24772=) c.74313T>A (p.Thr24771=) c.73746T>A (p.Thr24582=) c.71088T>A (p.Thr23696=) c.71007T>A (p.Thr23669=) c.52770T>A (p.Thr17590=) c.42624T>A (p.Thr14208=) | |
| 2 | g.178566258G>A | CA349593196 | TTN,TTN-AS1 | c.72170C>T (p.Thr24057Ile) c.53255C>T (p.Thr17752Ile) c.53054C>T (p.Thr17685Ile) c.52679C>T (p.Thr17560Ile) c.79874C>T (p.Thr26625Ile) c.74951C>T (p.Thr24984Ile) n.447-5042G>A n.2044-16314G>A c.78971C>T (p.Thr26324Ile) c.52865C>T (p.Thr17622Ile) c.52724C>T (p.Thr17575Ile) c.78767C>T (p.Thr26256Ile) c.74165C>T (p.Thr24722Ile) c.74162C>T (p.Thr24721Ile) c.71204C>T (p.Thr23735Ile) c.52820C>T (p.Thr17607Ile) c.74315C>T (p.Thr24772Ile) c.74312C>T (p.Thr24771Ile) c.73745C>T (p.Thr24582Ile) c.71087C>T (p.Thr23696Ile) c.71006C>T (p.Thr23669Ile) c.52769C>T (p.Thr17590Ile) c.42623C>T (p.Thr14208Ile) | dbSNP gnomAD v4 |
| 2 | g.178566258G>C | CA349593199 | TTN,TTN-AS1 | c.72170C>G (p.Thr24057Ser) c.53255C>G (p.Thr17752Ser) c.53054C>G (p.Thr17685Ser) c.52679C>G (p.Thr17560Ser) c.79874C>G (p.Thr26625Ser) c.74951C>G (p.Thr24984Ser) n.447-5042G>C n.2044-16314G>C c.78971C>G (p.Thr26324Ser) c.52865C>G (p.Thr17622Ser) c.52724C>G (p.Thr17575Ser) c.78767C>G (p.Thr26256Ser) c.74165C>G (p.Thr24722Ser) c.74162C>G (p.Thr24721Ser) c.71204C>G (p.Thr23735Ser) c.52820C>G (p.Thr17607Ser) c.74315C>G (p.Thr24772Ser) c.74312C>G (p.Thr24771Ser) c.73745C>G (p.Thr24582Ser) c.71087C>G (p.Thr23696Ser) c.71006C>G (p.Thr23669Ser) c.52769C>G (p.Thr17590Ser) c.42623C>G (p.Thr14208Ser) | |
| 2 | g.178566258G= | CA1310529438 | TTN,TTN-AS1 | c.72170C= (p.Thr24057=) c.53255C= (p.Thr17752=) c.53054C= (p.Thr17685=) c.52679C= (p.Thr17560=) c.79874C= (p.Thr26625=) c.74951C= (p.Thr24984=) n.447-5042G= n.2044-16314G= c.78971C= (p.Thr26324=) c.52865C= (p.Thr17622=) c.52724C= (p.Thr17575=) c.78767C= (p.Thr26256=) c.74165C= (p.Thr24722=) c.74162C= (p.Thr24721=) c.71204C= (p.Thr23735=) c.52820C= (p.Thr17607=) c.74315C= (p.Thr24772=) c.74312C= (p.Thr24771=) c.73745C= (p.Thr24582=) c.71087C= (p.Thr23696=) c.71006C= (p.Thr23669=) c.52769C= (p.Thr17590=) c.42623C= (p.Thr14208=) | |
| 2 | g.178566258G>T | CA349593201 | TTN,TTN-AS1 | c.72170C>A (p.Thr24057Asn) c.53255C>A (p.Thr17752Asn) c.53054C>A (p.Thr17685Asn) c.52679C>A (p.Thr17560Asn) c.79874C>A (p.Thr26625Asn) c.74951C>A (p.Thr24984Asn) n.447-5042G>T n.2044-16314G>T c.78971C>A (p.Thr26324Asn) c.52865C>A (p.Thr17622Asn) c.52724C>A (p.Thr17575Asn) c.78767C>A (p.Thr26256Asn) c.74165C>A (p.Thr24722Asn) c.74162C>A (p.Thr24721Asn) c.71204C>A (p.Thr23735Asn) c.52820C>A (p.Thr17607Asn) c.74315C>A (p.Thr24772Asn) c.74312C>A (p.Thr24771Asn) c.73745C>A (p.Thr24582Asn) c.71087C>A (p.Thr23696Asn) c.71006C>A (p.Thr23669Asn) c.52769C>A (p.Thr17590Asn) c.42623C>A (p.Thr14208Asn) | |
| 2 | g.178566259T>A | CA349593205 | TTN,TTN-AS1 | c.72169A>T (p.Thr24057Ser) c.53254A>T (p.Thr17752Ser) c.53053A>T (p.Thr17685Ser) c.52678A>T (p.Thr17560Ser) c.79873A>T (p.Thr26625Ser) c.74950A>T (p.Thr24984Ser) n.447-5041T>A n.2044-16313T>A c.78970A>T (p.Thr26324Ser) c.52864A>T (p.Thr17622Ser) c.52723A>T (p.Thr17575Ser) c.78766A>T (p.Thr26256Ser) c.74164A>T (p.Thr24722Ser) c.74161A>T (p.Thr24721Ser) c.71203A>T (p.Thr23735Ser) c.52819A>T (p.Thr17607Ser) c.74314A>T (p.Thr24772Ser) c.74311A>T (p.Thr24771Ser) c.73744A>T (p.Thr24582Ser) c.71086A>T (p.Thr23696Ser) c.71005A>T (p.Thr23669Ser) c.52768A>T (p.Thr17590Ser) c.42622A>T (p.Thr14208Ser) | |
| 2 | g.178566259T>C | CA349593209 | TTN,TTN-AS1 | c.72169A>G (p.Thr24057Ala) c.53254A>G (p.Thr17752Ala) c.53053A>G (p.Thr17685Ala) c.52678A>G (p.Thr17560Ala) c.79873A>G (p.Thr26625Ala) c.74950A>G (p.Thr24984Ala) n.447-5041T>C n.2044-16313T>C c.78970A>G (p.Thr26324Ala) c.52864A>G (p.Thr17622Ala) c.52723A>G (p.Thr17575Ala) c.78766A>G (p.Thr26256Ala) c.74164A>G (p.Thr24722Ala) c.74161A>G (p.Thr24721Ala) c.71203A>G (p.Thr23735Ala) c.52819A>G (p.Thr17607Ala) c.74314A>G (p.Thr24772Ala) c.74311A>G (p.Thr24771Ala) c.73744A>G (p.Thr24582Ala) c.71086A>G (p.Thr23696Ala) c.71005A>G (p.Thr23669Ala) c.52768A>G (p.Thr17590Ala) c.42622A>G (p.Thr14208Ala) | |
| 2 | g.178566259T>G | CA349593210 | TTN,TTN-AS1 | c.72169A>C (p.Thr24057Pro) c.53254A>C (p.Thr17752Pro) c.53053A>C (p.Thr17685Pro) c.52678A>C (p.Thr17560Pro) c.79873A>C (p.Thr26625Pro) c.74950A>C (p.Thr24984Pro) n.447-5041T>G n.2044-16313T>G c.78970A>C (p.Thr26324Pro) c.52864A>C (p.Thr17622Pro) c.52723A>C (p.Thr17575Pro) c.78766A>C (p.Thr26256Pro) c.74164A>C (p.Thr24722Pro) c.74161A>C (p.Thr24721Pro) c.71203A>C (p.Thr23735Pro) c.52819A>C (p.Thr17607Pro) c.74314A>C (p.Thr24772Pro) c.74311A>C (p.Thr24771Pro) c.73744A>C (p.Thr24582Pro) c.71086A>C (p.Thr23696Pro) c.71005A>C (p.Thr23669Pro) c.52768A>C (p.Thr17590Pro) c.42622A>C (p.Thr14208Pro) | gnomAD v4 |
| 2 | g.178566260G>A | CA430252455 | TTN,TTN-AS1 | c.72168C>T (p.Ile24056=) c.53253C>T (p.Ile17751=) c.53052C>T (p.Ile17684=) c.52677C>T (p.Ile17559=) c.79872C>T (p.Ile26624=) c.74949C>T (p.Ile24983=) n.447-5040G>A n.2044-16312G>A c.78969C>T (p.Ile26323=) c.52863C>T (p.Ile17621=) c.52722C>T (p.Ile17574=) c.78765C>T (p.Ile26255=) c.74163C>T (p.Ile24721=) c.74160C>T (p.Ile24720=) c.71202C>T (p.Ile23734=) c.52818C>T (p.Ile17606=) c.74313C>T (p.Ile24771=) c.74310C>T (p.Ile24770=) c.73743C>T (p.Ile24581=) c.71085C>T (p.Ile23695=) c.71004C>T (p.Ile23668=) c.52767C>T (p.Ile17589=) c.42621C>T (p.Ile14207=) | dbSNP |
| 2 | g.178566260G>C | CA349593212 | TTN,TTN-AS1 | c.72168C>G (p.Ile24056Met) c.53253C>G (p.Ile17751Met) c.53052C>G (p.Ile17684Met) c.52677C>G (p.Ile17559Met) c.79872C>G (p.Ile26624Met) c.74949C>G (p.Ile24983Met) n.447-5040G>C n.2044-16312G>C c.78969C>G (p.Ile26323Met) c.52863C>G (p.Ile17621Met) c.52722C>G (p.Ile17574Met) c.78765C>G (p.Ile26255Met) c.74163C>G (p.Ile24721Met) c.74160C>G (p.Ile24720Met) c.71202C>G (p.Ile23734Met) c.52818C>G (p.Ile17606Met) c.74313C>G (p.Ile24771Met) c.74310C>G (p.Ile24770Met) c.73743C>G (p.Ile24581Met) c.71085C>G (p.Ile23695Met) c.71004C>G (p.Ile23668Met) c.52767C>G (p.Ile17589Met) c.42621C>G (p.Ile14207Met) | |
| 2 | g.178566260G= | CA1310529439 | TTN,TTN-AS1 | c.72168C= (p.Ile24056=) c.53253C= (p.Ile17751=) c.53052C= (p.Ile17684=) c.52677C= (p.Ile17559=) c.79872C= (p.Ile26624=) c.74949C= (p.Ile24983=) n.447-5040G= n.2044-16312G= c.78969C= (p.Ile26323=) c.52863C= (p.Ile17621=) c.52722C= (p.Ile17574=) c.78765C= (p.Ile26255=) c.74163C= (p.Ile24721=) c.74160C= (p.Ile24720=) c.71202C= (p.Ile23734=) c.52818C= (p.Ile17606=) c.74313C= (p.Ile24771=) c.74310C= (p.Ile24770=) c.73743C= (p.Ile24581=) c.71085C= (p.Ile23695=) c.71004C= (p.Ile23668=) c.52767C= (p.Ile17589=) c.42621C= (p.Ile14207=) | |
| 2 | g.178566260G>T | CA430252454 | TTN,TTN-AS1 | c.72168C>A (p.Ile24056=) c.53253C>A (p.Ile17751=) c.53052C>A (p.Ile17684=) c.52677C>A (p.Ile17559=) c.79872C>A (p.Ile26624=) c.74949C>A (p.Ile24983=) n.447-5040G>T n.2044-16312G>T c.78969C>A (p.Ile26323=) c.52863C>A (p.Ile17621=) c.52722C>A (p.Ile17574=) c.78765C>A (p.Ile26255=) c.74163C>A (p.Ile24721=) c.74160C>A (p.Ile24720=) c.71202C>A (p.Ile23734=) c.52818C>A (p.Ile17606=) c.74313C>A (p.Ile24771=) c.74310C>A (p.Ile24770=) c.73743C>A (p.Ile24581=) c.71085C>A (p.Ile23695=) c.71004C>A (p.Ile23668=) c.52767C>A (p.Ile17589=) c.42621C>A (p.Ile14207=) | |
| 2 | g.178566261A= | CA1310529440 | TTN,TTN-AS1 | c.72167T= (p.Ile24056=) c.53252T= (p.Ile17751=) c.53051T= (p.Ile17684=) c.52676T= (p.Ile17559=) c.79871T= (p.Ile26624=) c.74948T= (p.Ile24983=) n.447-5039A= n.2044-16311A= c.78968T= (p.Ile26323=) c.52862T= (p.Ile17621=) c.52721T= (p.Ile17574=) c.78764T= (p.Ile26255=) c.74162T= (p.Ile24721=) c.74159T= (p.Ile24720=) c.71201T= (p.Ile23734=) c.52817T= (p.Ile17606=) c.74312T= (p.Ile24771=) c.74309T= (p.Ile24770=) c.73742T= (p.Ile24581=) c.71084T= (p.Ile23695=) c.71003T= (p.Ile23668=) c.52766T= (p.Ile17589=) c.42620T= (p.Ile14207=) | |
| 2 | g.178566261A>C | CA349593225 | TTN,TTN-AS1 | c.72167T>G (p.Ile24056Ser) c.53252T>G (p.Ile17751Ser) c.53051T>G (p.Ile17684Ser) c.52676T>G (p.Ile17559Ser) c.79871T>G (p.Ile26624Ser) c.74948T>G (p.Ile24983Ser) n.447-5039A>C n.2044-16311A>C c.78968T>G (p.Ile26323Ser) c.52862T>G (p.Ile17621Ser) c.52721T>G (p.Ile17574Ser) c.78764T>G (p.Ile26255Ser) c.74162T>G (p.Ile24721Ser) c.74159T>G (p.Ile24720Ser) c.71201T>G (p.Ile23734Ser) c.52817T>G (p.Ile17606Ser) c.74312T>G (p.Ile24771Ser) c.74309T>G (p.Ile24770Ser) c.73742T>G (p.Ile24581Ser) c.71084T>G (p.Ile23695Ser) c.71003T>G (p.Ile23668Ser) c.52766T>G (p.Ile17589Ser) c.42620T>G (p.Ile14207Ser) | gnomAD v4 |
| 2 | g.178566261A>G | CA349593226 | TTN,TTN-AS1 | c.72167T>C (p.Ile24056Thr) c.53252T>C (p.Ile17751Thr) c.53051T>C (p.Ile17684Thr) c.52676T>C (p.Ile17559Thr) c.79871T>C (p.Ile26624Thr) c.74948T>C (p.Ile24983Thr) n.447-5039A>G n.2044-16311A>G c.78968T>C (p.Ile26323Thr) c.52862T>C (p.Ile17621Thr) c.52721T>C (p.Ile17574Thr) c.78764T>C (p.Ile26255Thr) c.74162T>C (p.Ile24721Thr) c.74159T>C (p.Ile24720Thr) c.71201T>C (p.Ile23734Thr) c.52817T>C (p.Ile17606Thr) c.74312T>C (p.Ile24771Thr) c.74309T>C (p.Ile24770Thr) c.73742T>C (p.Ile24581Thr) c.71084T>C (p.Ile23695Thr) c.71003T>C (p.Ile23668Thr) c.52766T>C (p.Ile17589Thr) c.42620T>C (p.Ile14207Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178566261A>T | CA60989655 | TTN,TTN-AS1 | c.72167T>A (p.Ile24056Asn) c.53252T>A (p.Ile17751Asn) c.53051T>A (p.Ile17684Asn) c.52676T>A (p.Ile17559Asn) c.79871T>A (p.Ile26624Asn) c.74948T>A (p.Ile24983Asn) n.447-5039A>T n.2044-16311A>T c.78968T>A (p.Ile26323Asn) c.52862T>A (p.Ile17621Asn) c.52721T>A (p.Ile17574Asn) c.78764T>A (p.Ile26255Asn) c.74162T>A (p.Ile24721Asn) c.74159T>A (p.Ile24720Asn) c.71201T>A (p.Ile23734Asn) c.52817T>A (p.Ile17606Asn) c.74312T>A (p.Ile24771Asn) c.74309T>A (p.Ile24770Asn) c.73742T>A (p.Ile24581Asn) c.71084T>A (p.Ile23695Asn) c.71003T>A (p.Ile23668Asn) c.52766T>A (p.Ile17589Asn) c.42620T>A (p.Ile14207Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178566262T>A | CA349593236 | TTN,TTN-AS1 | c.72166A>T (p.Ile24056Phe) c.53251A>T (p.Ile17751Phe) c.53050A>T (p.Ile17684Phe) c.52675A>T (p.Ile17559Phe) c.79870A>T (p.Ile26624Phe) c.74947A>T (p.Ile24983Phe) n.447-5038T>A n.2044-16310T>A c.78967A>T (p.Ile26323Phe) c.52861A>T (p.Ile17621Phe) c.52720A>T (p.Ile17574Phe) c.78763A>T (p.Ile26255Phe) c.74161A>T (p.Ile24721Phe) c.74158A>T (p.Ile24720Phe) c.71200A>T (p.Ile23734Phe) c.52816A>T (p.Ile17606Phe) c.74311A>T (p.Ile24771Phe) c.74308A>T (p.Ile24770Phe) c.73741A>T (p.Ile24581Phe) c.71083A>T (p.Ile23695Phe) c.71002A>T (p.Ile23668Phe) c.52765A>T (p.Ile17589Phe) c.42619A>T (p.Ile14207Phe) | |
| 2 | g.178566262T>C | CA349593230 | TTN,TTN-AS1 | c.72166A>G (p.Ile24056Val) c.53251A>G (p.Ile17751Val) c.53050A>G (p.Ile17684Val) c.52675A>G (p.Ile17559Val) c.79870A>G (p.Ile26624Val) c.74947A>G (p.Ile24983Val) n.447-5038T>C n.2044-16310T>C c.78967A>G (p.Ile26323Val) c.52861A>G (p.Ile17621Val) c.52720A>G (p.Ile17574Val) c.78763A>G (p.Ile26255Val) c.74161A>G (p.Ile24721Val) c.74158A>G (p.Ile24720Val) c.71200A>G (p.Ile23734Val) c.52816A>G (p.Ile17606Val) c.74311A>G (p.Ile24771Val) c.74308A>G (p.Ile24770Val) c.73741A>G (p.Ile24581Val) c.71083A>G (p.Ile23695Val) c.71002A>G (p.Ile23668Val) c.52765A>G (p.Ile17589Val) c.42619A>G (p.Ile14207Val) | |
| 2 | g.178566262T>G | CA349593233 | TTN,TTN-AS1 | c.72166A>C (p.Ile24056Leu) c.53251A>C (p.Ile17751Leu) c.53050A>C (p.Ile17684Leu) c.52675A>C (p.Ile17559Leu) c.79870A>C (p.Ile26624Leu) c.74947A>C (p.Ile24983Leu) n.447-5038T>G n.2044-16310T>G c.78967A>C (p.Ile26323Leu) c.52861A>C (p.Ile17621Leu) c.52720A>C (p.Ile17574Leu) c.78763A>C (p.Ile26255Leu) c.74161A>C (p.Ile24721Leu) c.74158A>C (p.Ile24720Leu) c.71200A>C (p.Ile23734Leu) c.52816A>C (p.Ile17606Leu) c.74311A>C (p.Ile24771Leu) c.74308A>C (p.Ile24770Leu) c.73741A>C (p.Ile24581Leu) c.71083A>C (p.Ile23695Leu) c.71002A>C (p.Ile23668Leu) c.52765A>C (p.Ile17589Leu) c.42619A>C (p.Ile14207Leu) |