Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112469077_112469078dup | CA2063765100 | PTPN11 | c.757-3867_757-3866dup (n.757-3867_757-3866dup) c.643-3867_643-3866dup (n.643-3867_643-3866dup) c.754-3867_754-3866dup (n.754-3867_754-3866dup) | dbSNP |
12 | g.112469078dup | CA243709711 | PTPN11 | c.757-3866dup (n.757-3866dup) c.643-3866dup (n.643-3866dup) c.754-3866dup (n.754-3866dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112469078del | CA683689582 | PTPN11 | c.757-3866del (n.757-3866del) c.643-3866del (n.643-3866del) c.754-3866del (n.754-3866del) | dbSNP gnomAD v3 gnomAD v4 |