| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.15930581G>A | CA416380349 | SPEN | c.*5192G>A (n.*5192G>A) c.4341G>A (p.Leu1447=) | |
| 1 | g.15930581G>C | CA338613845 | SPEN | c.*5192G>C (n.*5192G>C) c.4341G>C (p.Leu1447Phe) | |
| 1 | g.15930581G>T | CA338613847 | SPEN | c.*5192G>T (n.*5192G>T) c.4341G>T (p.Leu1447Phe) | |
| 1 | g.15930582C>A | CA338613849 | SPEN | c.*5193C>A (n.*5193C>A) c.4342C>A (p.Leu1448Ile) | |
| 1 | g.15930582C>G | CA338613851 | SPEN | c.*5193C>G (n.*5193C>G) c.4342C>G (p.Leu1448Val) | |
| 1 | g.15930582C>T | CA338613853 | SPEN | c.*5193C>T (n.*5193C>T) c.4342C>T (p.Leu1448Phe) | |
| 1 | g.15930583T>A | CA338613858 | SPEN | c.*5194T>A (n.*5194T>A) c.4343T>A (p.Leu1448His) | |
| 1 | g.15930583T>C | CA338613859 | SPEN | c.*5194T>C (n.*5194T>C) c.4343T>C (p.Leu1448Pro) | |
| 1 | g.15930583T>G | CA338613860 | SPEN | c.*5194T>G (n.*5194T>G) c.4343T>G (p.Leu1448Arg) | |
| 1 | g.15930584T>A | CA416380350 | SPEN | c.*5195T>A (n.*5195T>A) c.4344T>A (p.Leu1448=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930584T>C | CA416380352 | SPEN | c.*5195T>C (n.*5195T>C) c.4344T>C (p.Leu1448=) | |
| 1 | g.15930584T>G | CA416380353 | SPEN | c.*5195T>G (n.*5195T>G) c.4344T>G (p.Leu1448=) | |
| 1 | g.15930584T= | CA1155574160 | SPEN | c.*5195T= (n.*5195T=) c.4344T= (p.Leu1448=) | |
| 1 | g.15930585G>A | CA338613868 | SPEN | c.*5196G>A (n.*5196G>A) c.4345G>A (p.Glu1449Lys) | |
| 1 | g.15930585G>C | CA338613866 | SPEN | c.*5196G>C (n.*5196G>C) c.4345G>C (p.Glu1449Gln) | |
| 1 | g.15930585G>T | CA338613864 | SPEN | c.*5196G>T (n.*5196G>T) c.4345G>T (p.Glu1449Ter) | ClinVar dbSNP |
| 1 | g.15930586A= | CA1155574163 | SPEN | c.*5197A= (n.*5197A=) c.4346A= (p.Glu1449=) | |
| 1 | g.15930586A>C | CA338613871 | SPEN | c.*5197A>C (n.*5197A>C) c.4346A>C (p.Glu1449Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930586A>G | CA338613872 | SPEN | c.*5197A>G (n.*5197A>G) c.4346A>G (p.Glu1449Gly) | COSMIC |
| 1 | g.15930586A>T | CA338613873 | SPEN | c.*5197A>T (n.*5197A>T) c.4346A>T (p.Glu1449Val) | |
| 1 | g.15930587A= | CA1155574166 | SPEN | c.*5198A= (n.*5198A=) c.4347A= (p.Glu1449=) | |
| 1 | g.15930587A>C | CA338613875 | SPEN | c.*5198A>C (n.*5198A>C) c.4347A>C (p.Glu1449Asp) | |
| 1 | g.15930587A>G | CA416380359 | SPEN | c.*5198A>G (n.*5198A>G) c.4347A>G (p.Glu1449=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930587A>T | CA338613877 | SPEN | c.*5198A>T (n.*5198A>T) c.4347A>T (p.Glu1449Asp) | |
| 1 | g.15930588A>C | CA416380360 | SPEN | c.*5199A>C (n.*5199A>C) c.4348A>C (p.Arg1450=) | |
| 1 | g.15930588A>G | CA338613880 | SPEN | c.*5199A>G (n.*5199A>G) c.4348A>G (p.Arg1450Gly) | |
| 1 | g.15930588A>T | CA338613882 | SPEN | c.*5199A>T (n.*5199A>T) c.4348A>T (p.Arg1450Ter) | |
| 1 | g.15930589G>A | CA338613884 | SPEN | c.*5200G>A (n.*5200G>A) c.4349G>A (p.Arg1450Lys) | |
| 1 | g.15930589G>C | CA338613885 | SPEN | c.*5200G>C (n.*5200G>C) c.4349G>C (p.Arg1450Thr) | |
| 1 | g.15930589G>T | CA338613886 | SPEN | c.*5200G>T (n.*5200G>T) c.4349G>T (p.Arg1450Ile) | |
| 1 | g.15930590A>C | CA338613893 | SPEN | c.*5201A>C (n.*5201A>C) c.4350A>C (p.Arg1450Ser) | gnomAD v4 |
| 1 | g.15930590A>G | CA416380364 | SPEN | c.*5201A>G (n.*5201A>G) c.4350A>G (p.Arg1450=) | |
| 1 | g.15930590A>T | CA338613896 | SPEN | c.*5201A>T (n.*5201A>T) c.4350A>T (p.Arg1450Ser) | |
| 1 | g.15930591G>A | CA338613900 | SPEN | c.*5202G>A (n.*5202G>A) c.4351G>A (p.Ala1451Thr) | COSMIC |
| 1 | g.15930591G>C | CA338613902 | SPEN | c.*5202G>C (n.*5202G>C) c.4351G>C (p.Ala1451Pro) | |
| 1 | g.15930591G>T | CA338613898 | SPEN | c.*5202G>T (n.*5202G>T) c.4351G>T (p.Ala1451Ser) | |
| 1 | g.15930592C>A | CA338613905 | SPEN | c.*5203C>A (n.*5203C>A) c.4352C>A (p.Ala1451Asp) | |
| 1 | g.15930592C>G | CA338613907 | SPEN | c.*5203C>G (n.*5203C>G) c.4352C>G (p.Ala1451Gly) | |
| 1 | g.15930592C>T | CA338613909 | SPEN | c.*5203C>T (n.*5203C>T) c.4352C>T (p.Ala1451Val) | COSMIC |
| 1 | g.15930593T>A | CA416380366 | SPEN | c.*5204T>A (n.*5204T>A) c.4353T>A (p.Ala1451=) | |
| 1 | g.15930593T>C | CA416380367 | SPEN | c.*5204T>C (n.*5204T>C) c.4353T>C (p.Ala1451=) | |
| 1 | g.15930593T>G | CA416380368 | SPEN | c.*5204T>G (n.*5204T>G) c.4353T>G (p.Ala1451=) | |
| 1 | g.15930594A>C | CA338613912 | SPEN | c.*5205A>C (n.*5205A>C) c.4354A>C (p.Lys1452Gln) | |
| 1 | g.15930594A>G | CA338613914 | SPEN | c.*5205A>G (n.*5205A>G) c.4354A>G (p.Lys1452Glu) | |
| 1 | g.15930594A>T | CA338613916 | SPEN | c.*5205A>T (n.*5205A>T) c.4354A>T (p.Lys1452Ter) | |
| 1 | g.15930595A>C | CA338613921 | SPEN | c.*5206A>C (n.*5206A>C) c.4355A>C (p.Lys1452Thr) | |
| 1 | g.15930595A>G | CA338613919 | SPEN | c.*5206A>G (n.*5206A>G) c.4355A>G (p.Lys1452Arg) | gnomAD v4 |
| 1 | g.15930595A>T | CA338613920 | SPEN | c.*5206A>T (n.*5206A>T) c.4355A>T (p.Lys1452Ile) | |
| 1 | g.15930596A>C | CA338613923 | SPEN | c.*5207A>C (n.*5207A>C) c.4356A>C (p.Lys1452Asn) | |
| 1 | g.15930596A>G | CA416380371 | SPEN | c.*5207A>G (n.*5207A>G) c.4356A>G (p.Lys1452=) |