| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222297050G>A | CA431575923 | PAX3 | c.249C>T (p.Val83=) n.630C>T c.393C>T (p.Val131=) | |
| 2 | g.222297050G>C | CA431575924 | PAX3 | c.249C>G (p.Val83=) n.630C>G c.393C>G (p.Val131=) | |
| 2 | g.222297050G>T | CA431575925 | PAX3 | c.249C>A (p.Val83=) n.630C>A c.393C>A (p.Val131=) | |
| 2 | g.222297051A>C | CA351113501 | PAX3 | c.248T>G (p.Val83Gly) n.629T>G c.392T>G (p.Val131Gly) | |
| 2 | g.222297051A>G | CA351113502 | PAX3 | c.248T>C (p.Val83Ala) n.629T>C c.392T>C (p.Val131Ala) | |
| 2 | g.222297051A>T | CA351113503 | PAX3 | c.248T>A (p.Val83Asp) n.629T>A c.392T>A (p.Val131Asp) | |
| 2 | g.222297052C>A | CA351113504 | PAX3 | c.247G>T (p.Val83Phe) n.628G>T c.391G>T (p.Val131Phe) | dbSNP |
| 2 | g.222297052C= | CA1330546511 | PAX3 | c.247G= (p.Val83=) n.628G= c.391G= (p.Val131=) | |
| 2 | g.222297052C>G | CA351113505 | PAX3 | c.247G>C (p.Val83Leu) n.628G>C c.391G>C (p.Val131Leu) | |
| 2 | g.222297052C>T | CA351113506 | PAX3 | c.247G>A (p.Val83Ile) n.628G>A c.391G>A (p.Val131Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.222297053G>A | CA2135791 | PAX3 | c.246C>T (p.Cys82=) n.627C>T c.390C>T (p.Cys130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.222297053G>C | CA351113508 | PAX3 | c.246C>G (p.Cys82Trp) n.627C>G c.390C>G (p.Cys130Trp) | ClinVar dbSNP |
| 2 | g.222297053G= | CA1330546512 | PAX3 | c.246C= (p.Cys82=) n.627C= c.390C= (p.Cys130=) | |
| 2 | g.222297053G>T | CA351113507 | PAX3 | c.246C>A (p.Cys82Ter) n.627C>A c.390C>A (p.Cys130Ter) | ClinVar dbSNP |
| 2 | g.222297054C>A | CA351113509 | PAX3 | c.245G>T (p.Cys82Phe) n.626G>T c.389G>T (p.Cys130Phe) | |
| 2 | g.222297054C>G | CA351113510 | PAX3 | c.245G>C (p.Cys82Ser) n.626G>C c.389G>C (p.Cys130Ser) | |
| 2 | g.222297054C>T | CA351113511 | PAX3 | c.245G>A (p.Cys82Tyr) n.626G>A c.389G>A (p.Cys130Tyr) | |
| 2 | g.222297055A>C | CA351113512 | PAX3 | c.244T>G (p.Cys82Gly) n.625T>G c.388T>G (p.Cys130Gly) | |
| 2 | g.222297055A>G | CA351113513 | PAX3 | c.244T>C (p.Cys82Arg) n.625T>C c.388T>C (p.Cys130Arg) | |
| 2 | g.222297055A>T | CA351113514 | PAX3 | c.244T>A (p.Cys82Ser) n.625T>A c.388T>A (p.Cys130Ser) | |
| 2 | g.222297056G>A | CA431575926 | PAX3 | c.243C>T (p.Gly81=) n.624C>T c.387C>T (p.Gly129=) | |
| 2 | g.222297056G>C | CA431575927 | PAX3 | c.243C>G (p.Gly81=) n.624C>G c.387C>G (p.Gly129=) | |
| 2 | g.222297056G>T | CA431575928 | PAX3 | c.243C>A (p.Gly81=) n.624C>A c.387C>A (p.Gly129=) | |
| 2 | g.222297057C>A | CA351113516 | PAX3 | c.242G>T (p.Gly81Val) n.623G>T c.386G>T (p.Gly129Val) | |
| 2 | g.222297057C= | CA1330546513 | PAX3 | c.242G= (p.Gly81=) n.623G= c.386G= (p.Gly129=) | |
| 2 | g.222297057C>G | CA253049 | PAX3 | c.242G>C (p.Gly81Ala) n.623G>C c.386G>C (p.Gly129Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.222297057C>T | CA351113515 | PAX3 | c.242G>A (p.Gly81Asp) n.623G>A c.386G>A (p.Gly129Asp) | ClinVar dbSNP |
| 2 | g.222297058C>A | CA269911 | PAX3 | c.241G>T (p.Gly81Cys) n.622G>T c.385G>T (p.Gly129Cys) | ClinVar dbSNP |
| 2 | g.222297058C= | CA1330546514 | PAX3 | c.241G= (p.Gly81=) n.622G= c.385G= (p.Gly129=) | |
| 2 | g.222297058C>G | CA2135792 | PAX3 | c.241G>C (p.Gly81Arg) n.622G>C c.385G>C (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.222297058C>T | CA351113517 | PAX3 | c.241G>A (p.Gly81Ser) n.622G>A c.385G>A (p.Gly129Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.222297059G>A | CA431575929 | PAX3 | c.240C>T (p.His80=) n.621C>T c.384C>T (p.His128=) | dbSNP gnomAD v4 |
| 2 | g.222297059G>C | CA351113518 | PAX3 | c.240C>G (p.His80Gln) n.621C>G c.384C>G (p.His128Gln) | |
| 2 | g.222297059G= | CA1330546515 | PAX3 | c.240C= (p.His80=) n.621C= c.384C= (p.His128=) | |
| 2 | g.222297059G>T | CA351113519 | PAX3 | c.240C>A (p.His80Gln) n.621C>A c.384C>A (p.His128Gln) | |
| 2 | g.222297060T>A | CA351113522 | PAX3 | c.239A>T (p.His80Leu) n.620A>T c.383A>T (p.His128Leu) | |
| 2 | g.222297060T>C | CA351113520 | PAX3 | c.239A>G (p.His80Arg) n.620A>G c.383A>G (p.His128Arg) | ClinVar dbSNP |
| 2 | g.222297060T>G | CA351113521 | PAX3 | c.239A>C (p.His80Pro) n.620A>C c.383A>C (p.His128Pro) | |
| 2 | g.222297060T= | CA1330546516 | PAX3 | c.239A= (p.His80=) n.620A= c.383A= (p.His128=) | |
| 2 | g.222297061G>A | CA351113523 | PAX3 | c.238C>T (p.His80Tyr) n.619C>T c.382C>T (p.His128Tyr) | ClinVar |
| 2 | g.222297061G>C | CA259837 | PAX3 | c.238C>G (p.His80Asp) n.619C>G c.382C>G (p.His128Asp) | ClinVar dbSNP |
| 2 | g.222297061G= | CA1330546517 | PAX3 | c.238C= (p.His80=) n.619C= c.382C= (p.His128=) | |
| 2 | g.222297061G>T | CA351113524 | PAX3 | c.238C>A (p.His80Asn) n.619C>A c.382C>A (p.His128Asn) | |
| 2 | g.222297062G>A | CA431575930 | PAX3 | c.237C>T (p.Ser79=) n.618C>T c.381C>T (p.Ser127=) | |
| 2 | g.222297062G>C | CA431575931 | PAX3 | c.237C>G (p.Ser79=) n.618C>G c.381C>G (p.Ser127=) | |
| 2 | g.222297062G>T | CA431575932 | PAX3 | c.237C>A (p.Ser79=) n.618C>A c.381C>A (p.Ser127=) | |
| 2 | g.222297063G>A | CA351113525 | PAX3 | c.236C>T (p.Ser79Phe) n.617C>T c.380C>T (p.Ser127Phe) | |
| 2 | g.222297063G>C | CA351113526 | PAX3 | c.236C>G (p.Ser79Cys) n.617C>G c.380C>G (p.Ser127Cys) | |
| 2 | g.222297063G>T | CA351113527 | PAX3 | c.236C>A (p.Ser79Tyr) n.617C>A c.380C>A (p.Ser127Tyr) | |
| 2 | g.222297064A>C | CA351113528 | PAX3 | c.235T>G (p.Ser79Ala) n.616T>G c.379T>G (p.Ser127Ala) |