| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133436862C>G | CA358426 | ADAMTS13 | c.1342C>G (p.Gln448Glu) c.1249C>G (p.Gln417Glu) c.598C>G (p.Gln200Glu) c.*146C>G (n.*146C>G) n.974-2504C>G c.*626C>G (n.*626C>G) n.993-2504C>G c.952C>G (p.Gln318Glu) c.358C>G (p.Gln120Glu) c.352C>G (p.Gln118Glu) c.7C>G (p.Gln3Glu) c.128C>G (p.Ala43Gly) c.687-8001C>G (n.687-8001C>G) c.1330C>G (p.Gln444Glu) n.2567C>G n.995-2504C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133436862C>A | CA375391537 | ADAMTS13 | c.1342C>A (p.Gln448Lys) c.1249C>A (p.Gln417Lys) c.598C>A (p.Gln200Lys) c.*146C>A (n.*146C>A) n.974-2504C>A c.*626C>A (n.*626C>A) n.993-2504C>A c.952C>A (p.Gln318Lys) c.358C>A (p.Gln120Lys) c.352C>A (p.Gln118Lys) c.7C>A (p.Gln3Lys) c.128C>A (p.Ala43Glu) c.687-8001C>A (n.687-8001C>A) c.1330C>A (p.Gln444Lys) n.2567C>A n.995-2504C>A | dbSNP gnomAD v4 |
| 9 | g.133436862C= | CA1882673124 | ADAMTS13 | c.1342C= (p.Gln448=) c.1249C= (p.Gln417=) c.598C= (p.Gln200=) c.*146C= (n.*146C=) n.974-2504C= c.*626C= (n.*626C=) n.993-2504C= c.952C= (p.Gln318=) c.358C= (p.Gln120=) c.352C= (p.Gln118=) c.7C= (p.Gln3=) c.128C= (p.Ala43=) c.687-8001C= (n.687-8001C=) c.1330C= (p.Gln444=) n.2567C= n.995-2504C= | dbSNP |
| 9 | g.133436862C>T | CA375391540 | ADAMTS13 | c.1342C>T (p.Gln448Ter) c.1249C>T (p.Gln417Ter) c.598C>T (p.Gln200Ter) c.*146C>T (n.*146C>T) n.974-2504C>T c.*626C>T (n.*626C>T) n.993-2504C>T c.952C>T (p.Gln318Ter) c.358C>T (p.Gln120Ter) c.352C>T (p.Gln118Ter) c.7C>T (p.Gln3Ter) c.128C>T (p.Ala43Val) c.687-8001C>T (n.687-8001C>T) c.1330C>T (p.Gln444Ter) n.2567C>T n.995-2504C>T | dbSNP gnomAD v4 |