Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222297160T>A | CA351113740 | PAX3 | c.139A>T (p.Asn47Tyr) n.520A>T c.283A>T (p.Asn95Tyr) | |
2 | g.222297160T>C | CA351113741 | PAX3 | c.139A>G (p.Asn47Asp) n.520A>G c.283A>G (p.Asn95Asp) | ClinVar |
2 | g.222297160T>G | CA116693 | PAX3 | c.139A>C (p.Asn47His) n.520A>C c.283A>C (p.Asn95His) | ClinVar dbSNP |
2 | g.222297160T= | CA1330546564 | PAX3 | c.139A= (p.Asn47=) n.520A= c.283A= (p.Asn95=) | |
2 | g.222297161G>A | CA431575998 | PAX3 | c.138C>T (p.Ile46=) n.519C>T c.282C>T (p.Ile94=) | gnomAD v4 |
2 | g.222297161G>C | CA351113742 | PAX3 | c.138C>G (p.Ile46Met) n.519C>G c.282C>G (p.Ile94Met) | gnomAD v4 |
2 | g.222297161G>T | CA431575999 | PAX3 | c.138C>A (p.Ile46=) n.519C>A c.282C>A (p.Ile94=) | gnomAD v4 |
2 | g.222297162A= | CA1330546565 | PAX3 | c.137T= (p.Ile46=) n.518T= c.281T= (p.Ile94=) | |
2 | g.222297162A>C | CA351113743 | PAX3 | c.137T>G (p.Ile46Ser) n.518T>G c.281T>G (p.Ile94Ser) | |
2 | g.222297162A>G | CA351113744 | PAX3 | c.137T>C (p.Ile46Thr) n.518T>C c.281T>C (p.Ile94Thr) | |
2 | g.222297162A>T | CA351113745 | PAX3 | c.137T>A (p.Ile46Asn) n.518T>A c.281T>A (p.Ile94Asn) | dbSNP |
2 | g.222297163del | CA2586971553 | PAX3 | c.136del (p.Ile46SerfsTer?) n.517del c.280del (p.Ile94SerfsTer?) | |
2 | g.222297163T>A | CA351113748 | PAX3 | c.136A>T (p.Ile46Phe) n.517A>T c.280A>T (p.Ile94Phe) | |
2 | g.222297163T>C | CA351113746 | PAX3 | c.136A>G (p.Ile46Val) n.517A>G c.280A>G (p.Ile94Val) | dbSNP gnomAD v4 |
2 | g.222297163T>G | CA351113747 | PAX3 | c.136A>C (p.Ile46Leu) n.517A>C c.280A>C (p.Ile94Leu) | |
2 | g.222297163T= | CA1330546566 | PAX3 | c.136A= (p.Ile46=) n.517A= c.280A= (p.Ile94=) | |
2 | g.222297163dup | CA658821476 | PAX3 | c.136dup (p.Ile46AsnfsTer?) n.517dup c.280dup (p.Ile94AsnfsTer?) | ClinVar dbSNP |
2 | g.222297164A= | CA1330546567 | PAX3 | c.135T= (p.Phe45=) n.516T= c.279T= (p.Phe93=) | |
2 | g.222297164A>C | CA351113749 | PAX3 | c.135T>G (p.Phe45Leu) n.516T>G c.279T>G (p.Phe93Leu) | |
2 | g.222297164A>G | CA431576000 | PAX3 | c.135T>C (p.Phe45=) n.516T>C c.279T>C (p.Phe93=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297164A>T | CA351113750 | PAX3 | c.135T>A (p.Phe45Leu) n.516T>A c.279T>A (p.Phe93Leu) | |
2 | g.222297168dup | CA2663324106 | PAX3 | c.135dup (p.Ile46TyrfsTer?) n.516dup c.279dup (p.Ile94TyrfsTer?) | gnomAD v4 |
2 | g.222297168del | CA2663324107 | PAX3 | c.135del (p.Phe45LeufsTer?) n.516del c.279del (p.Phe93LeufsTer?) | gnomAD v4 |
2 | g.222297165A>C | CA351113751 | PAX3 | c.134T>G (p.Phe45Cys) n.515T>G c.278T>G (p.Phe93Cys) | |
2 | g.222297165A>G | CA351113752 | PAX3 | c.134T>C (p.Phe45Ser) n.515T>C c.278T>C (p.Phe93Ser) | |
2 | g.222297165A>T | CA351113753 | PAX3 | c.134T>A (p.Phe45Tyr) n.515T>A c.278T>A (p.Phe93Tyr) | |
2 | g.222297166A>C | CA351113754 | PAX3 | c.133T>G (p.Phe45Val) n.514T>G c.277T>G (p.Phe93Val) | |
2 | g.222297166A>G | CA351113755 | PAX3 | c.133T>C (p.Phe45Leu) n.514T>C c.277T>C (p.Phe93Leu) | |
2 | g.222297166A>T | CA351113756 | PAX3 | c.133T>A (p.Phe45Ile) n.514T>A c.277T>A (p.Phe93Ile) | |
2 | g.222297167A>C | CA431576003 | PAX3 | c.132T>G (p.Val44=) n.513T>G c.276T>G (p.Val92=) | |
2 | g.222297167A>G | CA431576002 | PAX3 | c.132T>C (p.Val44=) n.513T>C c.276T>C (p.Val92=) | |
2 | g.222297167A>T | CA431576001 | PAX3 | c.132T>A (p.Val44=) n.513T>A c.276T>A (p.Val92=) | |
2 | g.222297168A>C | CA351113757 | PAX3 | c.131T>G (p.Val44Gly) n.512T>G c.275T>G (p.Val92Gly) | |
2 | g.222297168A>G | CA351113758 | PAX3 | c.131T>C (p.Val44Ala) n.512T>C c.275T>C (p.Val92Ala) | COSMIC |
2 | g.222297168A>T | CA351113759 | PAX3 | c.131T>A (p.Val44Asp) n.512T>A c.275T>A (p.Val92Asp) | |
2 | g.222297169C>A | CA351113760 | PAX3 | c.130G>T (p.Val44Phe) n.511G>T c.274G>T (p.Val92Phe) | gnomAD v4 |
2 | g.222297169C>G | CA351113761 | PAX3 | c.130G>C (p.Val44Leu) n.511G>C c.274G>C (p.Val92Leu) | |
2 | g.222297169C>T | CA351113762 | PAX3 | c.130G>A (p.Val44Ile) n.511G>A c.274G>A (p.Val92Ile) | gnomAD v4 |
2 | g.222297170_222297172del | CA2586971554 | PAX3 | c.128_130del (p.Gly43del) n.509_511del c.272_274del (p.Gly91del) | |
2 | g.222297170A= | CA1330546568 | PAX3 | c.129T= (p.Gly43=) n.510T= c.273T= (p.Gly91=) | |
2 | g.222297170A>C | CA431576004 | PAX3 | c.129T>G (p.Gly43=) n.510T>G c.273T>G (p.Gly91=) | gnomAD v4 |
2 | g.222297170A>G | CA201739 | PAX3 | c.129T>C (p.Gly43=) n.510T>C c.273T>C (p.Gly91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297170A>T | CA431576005 | PAX3 | c.129T>A (p.Gly43=) n.510T>A c.273T>A (p.Gly91=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297171C>A | CA351113763 | PAX3 | c.128G>T (p.Gly43Val) n.509G>T c.272G>T (p.Gly91Val) | |
2 | g.222297171C>G | CA351113765 | PAX3 | c.128G>C (p.Gly43Ala) n.509G>C c.272G>C (p.Gly91Ala) | |
2 | g.222297171C>T | CA351113764 | PAX3 | c.128G>A (p.Gly43Asp) n.509G>A c.272G>A (p.Gly91Asp) | gnomAD v4 |
2 | g.222297172C>A | CA351113766 | PAX3 | c.127G>T (p.Gly43Cys) n.508G>T c.271G>T (p.Gly91Cys) | ClinVar dbSNP |
2 | g.222297172C= | CA1330546569 | PAX3 | c.127G= (p.Gly43=) n.508G= c.271G= (p.Gly91=) | |
2 | g.222297172C>G | CA351113767 | PAX3 | c.127G>C (p.Gly43Arg) n.508G>C c.271G>C (p.Gly91Arg) | gnomAD v4 |
2 | g.222297172C>T | CA351113768 | PAX3 | c.127G>A (p.Gly43Ser) n.508G>A c.271G>A (p.Gly91Ser) | ClinVar |