| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.94657437G>A | CA3014722 | PDLIM5 | c.1475G>A (p.Ser492Asn) n.1368G>A c.500G>A (p.Ser167Asn) c.1166G>A (p.Ser389Asn) c.797G>A c.1562G>A (p.Ser521Asn) c.1148G>A (p.Ser383Asn) c.*1203G>A (n.*1203G>A) c.1109G>A (p.Ser370Asn) c.1889G>A (p.Ser630Asn) c.1871G>A (p.Ser624Asn) c.1544G>A (p.Ser515Asn) c.1904G>A (p.Ser635Asn) c.1577G>A (p.Ser526Asn) c.1508G>A (p.Ser503Asn) c.1502G>A (p.Ser501Asn) c.1487G>A (p.Ser496Asn) c.1493G>A (p.Ser498Asn) c.1181G>A (p.Ser394Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.94657437G>T | CA357736778 | PDLIM5 | c.1475G>T (p.Ser492Ile) n.1368G>T c.500G>T (p.Ser167Ile) c.1166G>T (p.Ser389Ile) c.797G>T c.1562G>T (p.Ser521Ile) c.1148G>T (p.Ser383Ile) c.*1203G>T (n.*1203G>T) c.1109G>T (p.Ser370Ile) c.1889G>T (p.Ser630Ile) c.1871G>T (p.Ser624Ile) c.1544G>T (p.Ser515Ile) c.1904G>T (p.Ser635Ile) c.1577G>T (p.Ser526Ile) c.1508G>T (p.Ser503Ile) c.1502G>T (p.Ser501Ile) c.1487G>T (p.Ser496Ile) c.1493G>T (p.Ser498Ile) c.1181G>T (p.Ser394Ile) | dbSNP gnomAD v4 |
| 4 | g.94657437G>C | CA357736777 | PDLIM5 | c.1475G>C (p.Ser492Thr) n.1368G>C c.500G>C (p.Ser167Thr) c.1166G>C (p.Ser389Thr) c.797G>C c.1562G>C (p.Ser521Thr) c.1148G>C (p.Ser383Thr) c.*1203G>C (n.*1203G>C) c.1109G>C (p.Ser370Thr) c.1889G>C (p.Ser630Thr) c.1871G>C (p.Ser624Thr) c.1544G>C (p.Ser515Thr) c.1904G>C (p.Ser635Thr) c.1577G>C (p.Ser526Thr) c.1508G>C (p.Ser503Thr) c.1502G>C (p.Ser501Thr) c.1487G>C (p.Ser496Thr) c.1493G>C (p.Ser498Thr) c.1181G>C (p.Ser394Thr) | dbSNP |