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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.142750600A>T | CA341152 | PRSS1 | c.86A>T (p.Asn29Ile) n.54-29A>T n.90A>T c.370+29414A>T (p.=) c.82+1809A>T (p.=) c.761A>T (p.Asn254Ile) | ClinVar dbSNP ExAC gnomAD |
| 7 | g.142750600A>C | CA343001 | PRSS1 | c.86A>C (p.Asn29Thr) n.54-29A>C n.90A>C c.370+29414A>C (p.=) c.82+1809A>C (p.=) c.761A>C (p.Asn254Thr) | ClinVar dbSNP |