| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.22550699T>A | CA376132735 | PIP4K2A | c.752A>T (p.Asn251Ile) c.332A>T (p.Asn111Ile) c.575A>T (p.Asn192Ile) c.290A>T (p.Asn97Ile) c.599A>T (p.Asn200Ile) c.713A>T (p.Asn238Ile) c.665A>T (p.Asn222Ile) c.422A>T (p.Asn141Ile) | dbSNP gnomAD v4 |
| 10 | g.22550699T>C | CA5437287 | PIP4K2A | c.752A>G (p.Asn251Ser) c.332A>G (p.Asn111Ser) c.575A>G (p.Asn192Ser) c.290A>G (p.Asn97Ser) c.599A>G (p.Asn200Ser) c.713A>G (p.Asn238Ser) c.665A>G (p.Asn222Ser) c.422A>G (p.Asn141Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.22550699T= | CA1896221598 | PIP4K2A | c.752A= (p.Asn251=) c.332A= (p.Asn111=) c.575A= (p.Asn192=) c.290A= (p.Asn97=) c.599A= (p.Asn200=) c.713A= (p.Asn238=) c.665A= (p.Asn222=) c.422A= (p.Asn141=) | dbSNP |
| 10 | g.22550699T>G | CA376132737 | PIP4K2A | c.752A>C (p.Asn251Thr) c.332A>C (p.Asn111Thr) c.575A>C (p.Asn192Thr) c.290A>C (p.Asn97Thr) c.599A>C (p.Asn200Thr) c.713A>C (p.Asn238Thr) c.665A>C (p.Asn222Thr) c.422A>C (p.Asn141Thr) | dbSNP |