| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178802236G>A | CA2006395 | TTN | c.197C>T (p.Thr66Met) n.407C>T c.242C>T (p.Thr81Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178802236G>C | CA349530888 | TTN | c.197C>G (p.Thr66Arg) n.407C>G c.242C>G (p.Thr81Arg) | |
| 2 | g.178802236G= | CA1310628750 | TTN | c.197C= (p.Thr66=) n.407C= c.242C= (p.Thr81=) | |
| 2 | g.178802236G>T | CA349530891 | TTN | c.197C>A (p.Thr66Lys) n.407C>A c.242C>A (p.Thr81Lys) | |
| 2 | g.178802237T>A | CA349530896 | TTN | c.196A>T (p.Thr66Ser) n.406A>T c.241A>T (p.Thr81Ser) | |
| 2 | g.178802237T>C | CA349530903 | TTN | c.196A>G (p.Thr66Ala) n.406A>G c.241A>G (p.Thr81Ala) | |
| 2 | g.178802237T>G | CA349530900 | TTN | c.196A>C (p.Thr66Pro) n.406A>C c.241A>C (p.Thr81Pro) | |
| 2 | g.178802238C>A | CA430119240 | TTN | c.195G>T (p.Leu65=) n.405G>T c.240G>T (p.Leu80=) | |
| 2 | g.178802238C>G | CA430119243 | TTN | c.195G>C (p.Leu65=) n.405G>C c.240G>C (p.Leu80=) | |
| 2 | g.178802238C>T | CA430119242 | TTN | c.195G>A (p.Leu65=) n.405G>A c.240G>A (p.Leu80=) | |
| 2 | g.178802239A>C | CA349530907 | TTN | c.194T>G (p.Leu65Arg) n.404T>G c.239T>G (p.Leu80Arg) | |
| 2 | g.178802239A>G | CA349530910 | TTN | c.194T>C (p.Leu65Pro) n.404T>C c.239T>C (p.Leu80Pro) | |
| 2 | g.178802239A>T | CA349530911 | TTN | c.194T>A (p.Leu65Gln) n.404T>A c.239T>A (p.Leu80Gln) | |
| 2 | g.178802240G>A | CA430119248 | TTN | c.193C>T (p.Leu65=) n.403C>T c.238C>T (p.Leu80=) | ClinVar |
| 2 | g.178802240G>C | CA349530912 | TTN | c.193C>G (p.Leu65Val) n.403C>G c.238C>G (p.Leu80Val) | gnomAD v4 |
| 2 | g.178802240G>T | CA349530915 | TTN | c.193C>A (p.Leu65Met) n.403C>A c.238C>A (p.Leu80Met) | |
| 2 | g.178802241T>A | CA349530918 | TTN | c.192A>T (p.Lys64Asn) n.402A>T c.237A>T (p.Lys79Asn) | |
| 2 | g.178802241T>C | CA430119252 | TTN | c.192A>G (p.Lys64=) n.402A>G c.237A>G (p.Lys79=) | |
| 2 | g.178802241T>G | CA349530919 | TTN | c.192A>C (p.Lys64Asn) n.402A>C c.237A>C (p.Lys79Asn) | |
| 2 | g.178802242T>A | CA349530920 | TTN | c.191A>T (p.Lys64Ile) n.401A>T c.236A>T (p.Lys79Ile) | gnomAD v4 |
| 2 | g.178802242T>C | CA349530921 | TTN | c.191A>G (p.Lys64Arg) n.401A>G c.236A>G (p.Lys79Arg) | |
| 2 | g.178802242T>G | CA349530927 | TTN | c.191A>C (p.Lys64Thr) n.401A>C c.236A>C (p.Lys79Thr) | |
| 2 | g.178802243T>A | CA349530932 | TTN | c.190A>T (p.Lys64Ter) n.400A>T c.235A>T (p.Lys79Ter) | |
| 2 | g.178802243T>C | CA349530930 | TTN | c.190A>G (p.Lys64Glu) n.400A>G c.235A>G (p.Lys79Glu) | dbSNP |
| 2 | g.178802243T>G | CA349530928 | TTN | c.190A>C (p.Lys64Gln) n.400A>C c.235A>C (p.Lys79Gln) | |
| 2 | g.178802243T= | CA1310628751 | TTN | c.190A= (p.Lys64=) n.400A= c.235A= (p.Lys79=) | |
| 2 | g.178802244A= | CA1310628752 | TTN | c.189T= (p.Ala63=) n.399T= c.234T= (p.Ala78=) | |
| 2 | g.178802244A>C | CA16604059 | TTN | c.189T>G (p.Ala63=) n.399T>G c.234T>G (p.Ala78=) | ClinVar dbSNP |
| 2 | g.178802244A>G | CA16604066 | TTN | c.189T>C (p.Ala63=) n.399T>C c.234T>C (p.Ala78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178802244A>T | CA430119262 | TTN | c.189T>A (p.Ala63=) n.399T>A c.234T>A (p.Ala78=) | |
| 2 | g.178802245G>A | CA2006396 | TTN | c.188C>T (p.Ala63Val) n.398C>T c.233C>T (p.Ala78Val) | dbSNP ExAC gnomAD v2 |
| 2 | g.178802245G>C | CA349530939 | TTN | c.188C>G (p.Ala63Gly) n.398C>G c.233C>G (p.Ala78Gly) | dbSNP |
| 2 | g.178802245G= | CA1310628753 | TTN | c.188C= (p.Ala63=) n.398C= c.233C= (p.Ala78=) | |
| 2 | g.178802245G>T | CA349530942 | TTN | c.188C>A (p.Ala63Asp) n.398C>A c.233C>A (p.Ala78Asp) | |
| 2 | g.178802246C>A | CA349530948 | TTN | c.187G>T (p.Ala63Ser) n.397G>T c.232G>T (p.Ala78Ser) | |
| 2 | g.178802246C= | CA1310628754 | TTN | c.187G= (p.Ala63=) n.397G= c.232G= (p.Ala78=) | |
| 2 | g.178802246C>G | CA349530951 | TTN | c.187G>C (p.Ala63Pro) n.397G>C c.232G>C (p.Ala78Pro) | |
| 2 | g.178802246C>T | CA311611 | TTN | c.187G>A (p.Ala63Thr) n.397G>A c.232G>A (p.Ala78Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178802247G>A | CA243575 | TTN | c.186C>T (p.Arg62=) n.396C>T c.231C>T (p.Arg77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178802247G>C | CA430119272 | TTN | c.186C>G (p.Arg62=) n.396C>G c.231C>G (p.Arg77=) | |
| 2 | g.178802247G= | CA1310628755 | TTN | c.186C= (p.Arg62=) n.396C= c.231C= (p.Arg77=) | |
| 2 | g.178802247G>T | CA430119273 | TTN | c.186C>A (p.Arg62=) n.396C>A c.231C>A (p.Arg77=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178802248C>A | CA349530965 | TTN | c.185G>T (p.Arg62Leu) n.395G>T c.230G>T (p.Arg77Leu) | |
| 2 | g.178802248C= | CA1310628756 | TTN | c.185G= (p.Arg62=) n.395G= c.230G= (p.Arg77=) | |
| 2 | g.178802248C>G | CA349530969 | TTN | c.185G>C (p.Arg62Pro) n.395G>C c.230G>C (p.Arg77Pro) | |
| 2 | g.178802248C>T | CA2006397 | TTN | c.185G>A (p.Arg62His) n.395G>A c.230G>A (p.Arg77His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178802249G>A | CA2006398 | TTN | c.184C>T (p.Arg62Cys) n.394C>T c.229C>T (p.Arg77Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178802249G>C | CA349530978 | TTN | c.184C>G (p.Arg62Gly) n.394C>G c.229C>G (p.Arg77Gly) | gnomAD v4 |
| 2 | g.178802249G= | CA1310628757 | TTN | c.184C= (p.Arg62=) n.394C= c.229C= (p.Arg77=) | |
| 2 | g.178802249G>T | CA349530983 | TTN | c.184C>A (p.Arg62Ser) n.394C>A c.229C>A (p.Arg77Ser) |