| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178738108C>G | CA349601832 | TTN | c.10613G>C (p.Ser3538Thr) c.13832G>C (p.Ser4611Thr) c.13631G>C (p.Ser4544Thr) c.13256G>C (p.Ser4419Thr) c.14345G>C (p.Ser4782Thr) c.13394G>C (p.Ser4465Thr) c.13442G>C (p.Ser4481Thr) c.13301G>C (p.Ser4434Thr) c.13397G>C (p.Ser4466Thr) c.10616G>C (p.Ser3539Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178738108C>T | CA60982468 | TTN | c.10613G>A (p.Ser3538Asn) c.13832G>A (p.Ser4611Asn) c.13631G>A (p.Ser4544Asn) c.13256G>A (p.Ser4419Asn) c.14345G>A (p.Ser4782Asn) c.13394G>A (p.Ser4465Asn) c.13442G>A (p.Ser4481Asn) c.13301G>A (p.Ser4434Asn) c.13397G>A (p.Ser4466Asn) c.10616G>A (p.Ser3539Asn) | dbSNP gnomAD v4 |
| 2 | g.178738108C= | CA1310600735 | TTN | c.10613G= (p.Ser3538=) c.13832G= (p.Ser4611=) c.13631G= (p.Ser4544=) c.13256G= (p.Ser4419=) c.14345G= (p.Ser4782=) c.13394G= (p.Ser4465=) c.13442G= (p.Ser4481=) c.13301G= (p.Ser4434=) c.13397G= (p.Ser4466=) c.10616G= (p.Ser3539=) | dbSNP |