Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) |