| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.78708470G>T | CA251317 | TENM4 | c.4100C>A (p.Thr1367Asn) c.4148C>A (p.Thr1383Asn) c.4127C>A (p.Thr1376Asn) c.4073C>A (p.Thr1358Asn) c.4049C>A (p.Thr1350Asn) c.3944C>A (p.Thr1315Asn) c.2987C>A (p.Thr996Asn) c.1601C>A (p.Thr534Asn) c.1544C>A (p.Thr515Asn) c.-2C>A (n.-2C>A) c.4175C>A (p.Thr1392Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.78708470G>A | CA6206875 | TENM4 | c.4100C>T (p.Thr1367Ile) c.4148C>T (p.Thr1383Ile) c.4127C>T (p.Thr1376Ile) c.4073C>T (p.Thr1358Ile) c.4049C>T (p.Thr1350Ile) c.3944C>T (p.Thr1315Ile) c.2987C>T (p.Thr996Ile) c.1601C>T (p.Thr534Ile) c.1544C>T (p.Thr515Ile) c.-2C>T (n.-2C>T) c.4175C>T (p.Thr1392Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |