Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.222297064A>G | CA351113529 | PAX3 | c.235T>C (p.Ser79Pro) n.616T>C c.379T>C (p.Ser127Pro) | |
2 | g.222297064A>T | CA351113530 | PAX3 | c.235T>A (p.Ser79Thr) n.616T>A c.379T>A (p.Ser127Thr) | |
2 | g.222297065C>A | CA431575933 | PAX3 | c.234G>T (p.Val78=) n.615G>T c.378G>T (p.Val126=) | |
2 | g.222297065C= | CA1330546518 | PAX3 | c.234G= (p.Val78=) n.615G= c.378G= (p.Val126=) | |
2 | g.222297065C>G | CA431575934 | PAX3 | c.234G>C (p.Val78=) n.615G>C c.378G>C (p.Val126=) | |
2 | g.222297065C>T | CA431575935 | PAX3 | c.234G>A (p.Val78=) n.615G>A c.378G>A (p.Val126=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297066A>C | CA351113531 | PAX3 | c.233T>G (p.Val78Gly) n.614T>G c.377T>G (p.Val126Gly) | |
2 | g.222297066A>G | CA351113532 | PAX3 | c.233T>C (p.Val78Ala) n.614T>C c.377T>C (p.Val126Ala) | |
2 | g.222297066A>T | CA351113533 | PAX3 | c.233T>A (p.Val78Glu) n.614T>A c.377T>A (p.Val126Glu) | ClinVar dbSNP |
2 | g.222297067C>A | CA351113534 | PAX3 | c.232G>T (p.Val78Leu) n.613G>T c.376G>T (p.Val126Leu) | ClinVar dbSNP |
2 | g.222297067C= | CA1330546519 | PAX3 | c.232G= (p.Val78=) n.613G= c.376G= (p.Val126=) | |
2 | g.222297067C>G | CA351113536 | PAX3 | c.232G>C (p.Val78Leu) n.613G>C c.376G>C (p.Val126Leu) | |
2 | g.222297067C>T | CA351113535 | PAX3 | c.232G>A (p.Val78Met) n.613G>A c.376G>A (p.Val126Met) | |
2 | g.222297068G>A | CA431575936 | PAX3 | c.231C>T (p.Arg77=) n.612C>T c.375C>T (p.Arg125=) | |
2 | g.222297068G>C | CA431575937 | PAX3 | c.231C>G (p.Arg77=) n.612C>G c.375C>G (p.Arg125=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297068G= | CA1330546520 | PAX3 | c.231C= (p.Arg77=) n.612C= c.375C= (p.Arg125=) | |
2 | g.222297068G>T | CA2135793 | PAX3 | c.231C>A (p.Arg77=) n.612C>A c.375C>A (p.Arg125=) | dbSNP ExAC gnomAD v2 |
2 | g.222297069C>A | CA351113537 | PAX3 | c.230G>T (p.Arg77Leu) n.611G>T c.374G>T (p.Arg125Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297069C= | CA1330546521 | PAX3 | c.230G= (p.Arg77=) n.611G= c.374G= (p.Arg125=) | |
2 | g.222297069C>G | CA351113538 | PAX3 | c.230G>C (p.Arg77Pro) n.611G>C c.374G>C (p.Arg125Pro) | |
2 | g.222297069C>T | CA351113539 | PAX3 | c.230G>A (p.Arg77His) n.611G>A c.374G>A (p.Arg125His) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222297070G>A | CA351113540 | PAX3 | c.229C>T (p.Arg77Cys) n.610C>T c.373C>T (p.Arg125Cys) | gnomAD v4 |
2 | g.222297070G>C | CA351113541 | PAX3 | c.229C>G (p.Arg77Gly) n.610C>G c.373C>G (p.Arg125Gly) | |
2 | g.222297070G>T | CA351113542 | PAX3 | c.229C>A (p.Arg77Ser) n.610C>A c.373C>A (p.Arg125Ser) | |
2 | g.222297071C>A | CA431575938 | PAX3 | c.228G>T (p.Leu76=) n.609G>T c.372G>T (p.Leu124=) | |
2 | g.222297071C>G | CA431575939 | PAX3 | c.228G>C (p.Leu76=) n.609G>C c.372G>C (p.Leu124=) | |
2 | g.222297071C>T | CA431575940 | PAX3 | c.228G>A (p.Leu76=) n.609G>A c.372G>A (p.Leu124=) | |
2 | g.222297072A= | CA1330546522 | PAX3 | c.227T= (p.Leu76=) n.608T= c.371T= (p.Leu124=) | |
2 | g.222297072A>C | CA351113543 | PAX3 | c.227T>G (p.Leu76Arg) n.608T>G c.371T>G (p.Leu124Arg) | ClinVar dbSNP |
2 | g.222297072A>G | CA351113544 | PAX3 | c.227T>C (p.Leu76Pro) n.608T>C c.371T>C (p.Leu124Pro) | |
2 | g.222297072A>T | CA351113545 | PAX3 | c.227T>A (p.Leu76Gln) n.608T>A c.371T>A (p.Leu124Gln) | |
2 | g.222297073G>A | CA431575941 | PAX3 | c.226C>T (p.Leu76=) n.607C>T c.370C>T (p.Leu124=) | |
2 | g.222297073G>C | CA351113546 | PAX3 | c.226C>G (p.Leu76Val) n.607C>G c.370C>G (p.Leu124Val) | |
2 | g.222297073G>T | CA351113547 | PAX3 | c.226C>A (p.Leu76Met) n.607C>A c.370C>A (p.Leu124Met) | |
2 | g.222297074C>A | CA351113549 | PAX3 | c.225G>T (p.Gln75His) n.606G>T c.369G>T (p.Gln123His) | gnomAD v4 |