Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.2717846_2718030dup | CA658657856 | KCNV2 | c.107_291dup (p.Thr98ValfsTer64) n.608_792dup | ClinVar dbSNP |
9 | g.2717858_2717869delinsAGGCCAGCATCC | CA1828287657 | KCNV2 | c.119_130delinsAGGCCAGCATCC (p.Gln40=) n.620_631delinsAGGCCAGCATCC | |
9 | g.2717859_2717869del | CA4965319 | KCNV2 | c.120_130del (p.Ala41ArgfsTer8) n.621_631del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717865C>A | CA372795757 | KCNV2 | c.126C>A (p.Ser42Arg) n.627C>A | dbSNP gnomAD v4 |
9 | g.2717865C= | CA1828287673 | KCNV2 | c.126C= (p.Ser42=) n.627C= | |
9 | g.2717865C>G | CA372795758 | KCNV2 | c.126C>G (p.Ser42Arg) n.627C>G | |
9 | g.2717865C>T | CA463853330 | KCNV2 | c.126C>T (p.Ser42=) n.627C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.2717866A= | CA1828287675 | KCNV2 | c.127A= (p.Ile43=) n.628A= | |
9 | g.2717866A>C | CA372795759 | KCNV2 | c.127A>C (p.Ile43Leu) n.628A>C | |
9 | g.2717866A>G | CA372795760 | KCNV2 | c.127A>G (p.Ile43Val) n.628A>G | |
9 | g.2717866A>T | CA372795761 | KCNV2 | c.127A>T (p.Ile43Phe) n.628A>T | ClinVar dbSNP gnomAD v4 |
9 | g.2717866_2717867delinsTA | CA2573143771 | KCNV2 | c.127_128delinsTA (p.Ile43Tyr) n.628_629delinsTA | ClinVar dbSNP |
9 | g.2717867T>A | CA372795764 | KCNV2 | c.128T>A (p.Ile43Asn) n.629T>A | ClinVar dbSNP gnomAD v4 |
9 | g.2717867T>C | CA372795763 | KCNV2 | c.128T>C (p.Ile43Thr) n.629T>C | |
9 | g.2717867T>G | CA372795762 | KCNV2 | c.128T>G (p.Ile43Ser) n.629T>G | |
9 | g.2717867T= | CA1828287677 | KCNV2 | c.128T= (p.Ile43=) n.629T= | |
9 | g.2717868C>A | CA463853332 | KCNV2 | c.129C>A (p.Ile43=) n.630C>A | |
9 | g.2717868C>G | CA372795765 | KCNV2 | c.129C>G (p.Ile43Met) n.630C>G | COSMIC |
9 | g.2717868C>T | CA463853333 | KCNV2 | c.129C>T (p.Ile43=) n.630C>T | |
9 | g.2717869C>A | CA372795766 | KCNV2 | c.130C>A (p.His44Asn) n.631C>A | |
9 | g.2717869C= | CA1828287682 | KCNV2 | c.130C= (p.His44=) n.631C= | |
9 | g.2717869C>G | CA372795767 | KCNV2 | c.130C>G (p.His44Asp) n.631C>G | |
9 | g.2717869C>T | CA4965322 | KCNV2 | c.130C>T (p.His44Tyr) n.631C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717870A>C | CA372795768 | KCNV2 | c.131A>C (p.His44Pro) n.632A>C | |
9 | g.2717870A>G | CA372795769 | KCNV2 | c.131A>G (p.His44Arg) n.632A>G | |
9 | g.2717870A>T | CA372795770 | KCNV2 | c.131A>T (p.His44Leu) n.632A>T | |
9 | g.2717871C>A | CA372795771 | KCNV2 | c.132C>A (p.His44Gln) n.633C>A | dbSNP |
9 | g.2717871C= | CA1828287685 | KCNV2 | c.132C= (p.His44=) n.633C= | |
9 | g.2717871C>G | CA372795772 | KCNV2 | c.132C>G (p.His44Gln) n.633C>G | |
9 | g.2717871C>T | CA4965323 | KCNV2 | c.132C>T (p.His44=) n.633C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717872G>A | CA4965324 | KCNV2 | c.133G>A (p.Gly45Ser) n.634G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717872G>C | CA372795773 | KCNV2 | c.133G>C (p.Gly45Arg) n.634G>C | gnomAD v4 |
9 | g.2717872G= | CA1828287688 | KCNV2 | c.133G= (p.Gly45=) n.634G= | |
9 | g.2717872G>T | CA372795774 | KCNV2 | c.133G>T (p.Gly45Cys) n.634G>T | gnomAD v4 |
9 | g.2717873G>A | CA372795776 | KCNV2 | c.134G>A (p.Gly45Asp) n.635G>A | gnomAD v4 |
9 | g.2717873G>C | CA372795775 | KCNV2 | c.134G>C (p.Gly45Ala) n.635G>C | |
9 | g.2717873G= | CA1828287692 | KCNV2 | c.134G= (p.Gly45=) n.635G= | |
9 | g.2717873G>T | CA4965325 | KCNV2 | c.134G>T (p.Gly45Val) n.635G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717874C>A | CA463853339 | KCNV2 | c.135C>A (p.Gly45=) n.636C>A | |
9 | g.2717874C= | CA1828287694 | KCNV2 | c.135C= (p.Gly45=) n.636C= | |
9 | g.2717874C>G | CA463853338 | KCNV2 | c.135C>G (p.Gly45=) n.636C>G | |
9 | g.2717874C>T | CA4965326 | KCNV2 | c.135C>T (p.Gly45=) n.636C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.2717875T>A | CA372795777 | KCNV2 | c.136T>A (p.Trp46Arg) n.637T>A | |
9 | g.2717875T>C | CA4965327 | KCNV2 | c.136T>C (p.Trp46Arg) n.637T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.2717875T>G | CA372795778 | KCNV2 | c.136T>G (p.Trp46Gly) n.637T>G | |
9 | g.2717875T= | CA1828287700 | KCNV2 | c.136T= (p.Trp46=) n.637T= | |
9 | g.2717876G>A | CA372795779 | KCNV2 | c.137G>A (p.Trp46Ter) n.638G>A | gnomAD v4 COSMIC |
9 | g.2717876G>C | CA372795780 | KCNV2 | c.137G>C (p.Trp46Ser) n.638G>C | |
9 | g.2717876G>T | CA372795781 | KCNV2 | c.137G>T (p.Trp46Leu) n.638G>T | |
9 | g.2717877G>A | CA372795782 | KCNV2 | c.138G>A (p.Trp46Ter) n.639G>A |