| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071095del | CA2698954867 | CYP1B1 | c.1263del (p.Phe421LeufsTer7) n.641del c.150del (p.Phe50LeufsTer7) | dbSNP |
| 2 | g.38071095A>C | CA346327529 | CYP1B1 | c.1259T>G (p.Val420Gly) n.637T>G c.146T>G (p.Val49Gly) | gnomAD v4 |
| 2 | g.38071095A>G | CA346327531 | CYP1B1 | c.1259T>C (p.Val420Ala) n.637T>C c.146T>C (p.Val49Ala) | |
| 2 | g.38071095A>T | CA346327530 | CYP1B1 | c.1259T>A (p.Val420Asp) n.637T>A c.146T>A (p.Val49Asp) | |
| 2 | g.38071096C>A | CA346327532 | CYP1B1 | c.1258G>T (p.Val420Phe) n.636G>T c.145G>T (p.Val49Phe) | |
| 2 | g.38071096C= | CA1245626119 | CYP1B1 | c.1258G= (p.Val420=) n.636G= c.145G= (p.Val49=) | |
| 2 | g.38071096C>G | CA346327533 | CYP1B1 | c.1258G>C (p.Val420Leu) n.636G>C c.145G>C (p.Val49Leu) | dbSNP gnomAD v4 |
| 2 | g.38071096C>T | CA346327534 | CYP1B1 | c.1258G>A (p.Val420Ile) n.636G>A c.145G>A (p.Val49Ile) | dbSNP gnomAD v4 |
| 2 | g.38071097C>A | CA425864525 | CYP1B1 | c.1257G>T (p.Val419=) n.635G>T c.144G>T (p.Val48=) | gnomAD v4 |
| 2 | g.38071097C>G | CA425864526 | CYP1B1 | c.1257G>C (p.Val419=) n.635G>C c.144G>C (p.Val48=) | |
| 2 | g.38071097C>T | CA425864527 | CYP1B1 | c.1257G>A (p.Val419=) n.635G>A c.144G>A (p.Val48=) | |
| 2 | g.38071099_38071100del | CA2586969064 | CYP1B1 | c.1256_1257del (p.Val419GlyfsTer11) n.634_635del c.143_144del (p.Val48GlyfsTer11) | |
| 2 | g.38071098A>C | CA346327535 | CYP1B1 | c.1256T>G (p.Val419Gly) n.634T>G c.143T>G (p.Val48Gly) | |
| 2 | g.38071098A>G | CA346327536 | CYP1B1 | c.1256T>C (p.Val419Ala) n.634T>C c.143T>C (p.Val48Ala) | |
| 2 | g.38071098A>T | CA346327537 | CYP1B1 | c.1256T>A (p.Val419Glu) n.634T>A c.143T>A (p.Val48Glu) | |
| 2 | g.38071099C>A | CA346327538 | CYP1B1 | c.1255G>T (p.Val419Leu) n.633G>T c.142G>T (p.Val48Leu) | |
| 2 | g.38071099C= | CA1245626120 | CYP1B1 | c.1255G= (p.Val419=) n.633G= c.142G= (p.Val48=) | |
| 2 | g.38071099C>G | CA346327539 | CYP1B1 | c.1255G>C (p.Val419Leu) n.633G>C c.142G>C (p.Val48Leu) | |
| 2 | g.38071099C>T | CA1619829 | CYP1B1 | c.1255G>A (p.Val419Met) n.633G>A c.142G>A (p.Val48Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071100A= | CA1245626121 | CYP1B1 | c.1254T= (p.Thr418=) n.632T= c.141T= (p.Thr47=) | |
| 2 | g.38071100A>C | CA425864530 | CYP1B1 | c.1254T>G (p.Thr418=) n.632T>G c.141T>G (p.Thr47=) | gnomAD v4 |
| 2 | g.38071100A>G | CA45506376 | CYP1B1 | c.1254T>C (p.Thr418=) n.632T>C c.141T>C (p.Thr47=) | dbSNP |
| 2 | g.38071100A>T | CA425864531 | CYP1B1 | c.1254T>A (p.Thr418=) n.632T>A c.141T>A (p.Thr47=) | |
| 2 | g.38071101G>A | CA346327542 | CYP1B1 | c.1253C>T (p.Thr418Ile) n.631C>T c.140C>T (p.Thr47Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.38071101G>C | CA346327541 | CYP1B1 | c.1253C>G (p.Thr418Ser) n.631C>G c.140C>G (p.Thr47Ser) | |
| 2 | g.38071101G= | CA1245626122 | CYP1B1 | c.1253C= (p.Thr418=) n.631C= c.140C= (p.Thr47=) | |
| 2 | g.38071101G>T | CA346327540 | CYP1B1 | c.1253C>A (p.Thr418Asn) n.631C>A c.140C>A (p.Thr47Asn) | |
| 2 | g.38071102T>A | CA346327543 | CYP1B1 | c.1252A>T (p.Thr418Ser) n.630A>T c.139A>T (p.Thr47Ser) | |
| 2 | g.38071102T>C | CA346327544 | CYP1B1 | c.1252A>G (p.Thr418Ala) n.630A>G c.139A>G (p.Thr47Ala) | dbSNP gnomAD v4 |
| 2 | g.38071102T>G | CA346327545 | CYP1B1 | c.1252A>C (p.Thr418Pro) n.630A>C c.139A>C (p.Thr47Pro) | |
| 2 | g.38071102T= | CA1245626123 | CYP1B1 | c.1252A= (p.Thr418=) n.630A= c.139A= (p.Thr47=) | |
| 2 | g.38071103G>A | CA425864532 | CYP1B1 | c.1251C>T (p.Asp417=) n.629C>T c.138C>T (p.Asp46=) | |
| 2 | g.38071103G>C | CA346327546 | CYP1B1 | c.1251C>G (p.Asp417Glu) n.629C>G c.138C>G (p.Asp46Glu) | |
| 2 | g.38071103G>T | CA346327547 | CYP1B1 | c.1251C>A (p.Asp417Glu) n.629C>A c.138C>A (p.Asp46Glu) | |
| 2 | g.38071104T>A | CA346327548 | CYP1B1 | c.1250A>T (p.Asp417Val) n.628A>T c.137A>T (p.Asp46Val) | |
| 2 | g.38071104T>C | CA346327549 | CYP1B1 | c.1250A>G (p.Asp417Gly) n.628A>G c.137A>G (p.Asp46Gly) | |
| 2 | g.38071104T>G | CA346327550 | CYP1B1 | c.1250A>C (p.Asp417Ala) n.628A>C c.137A>C (p.Asp46Ala) | |
| 2 | g.38071105C>A | CA346327551 | CYP1B1 | c.1249G>T (p.Asp417Tyr) n.627G>T c.136G>T (p.Asp46Tyr) | |
| 2 | g.38071105C>G | CA346327552 | CYP1B1 | c.1249G>C (p.Asp417His) n.627G>C c.136G>C (p.Asp46His) | |
| 2 | g.38071105C>T | CA346327553 | CYP1B1 | c.1249G>A (p.Asp417Asn) n.627G>A c.136G>A (p.Asp46Asn) | gnomAD v4 |
| 2 | g.38071106C>A | CA346327554 | CYP1B1 | c.1248G>T (p.Lys416Asn) n.626G>T c.135G>T (p.Lys45Asn) | |
| 2 | g.38071106C= | CA1245626124 | CYP1B1 | c.1248G= (p.Lys416=) n.626G= c.135G= (p.Lys45=) | |
| 2 | g.38071106C>G | CA346327555 | CYP1B1 | c.1248G>C (p.Lys416Asn) n.626G>C c.135G>C (p.Lys45Asn) | gnomAD v4 |
| 2 | g.38071106C>T | CA1619830 | CYP1B1 | c.1248G>A (p.Lys416=) n.626G>A c.135G>A (p.Lys45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071107T>A | CA346327556 | CYP1B1 | c.1247A>T (p.Lys416Met) n.625A>T c.134A>T (p.Lys45Met) | |
| 2 | g.38071107T>C | CA346327557 | CYP1B1 | c.1247A>G (p.Lys416Arg) n.625A>G c.134A>G (p.Lys45Arg) | |
| 2 | g.38071107T>G | CA346327558 | CYP1B1 | c.1247A>C (p.Lys416Thr) n.625A>C c.134A>C (p.Lys45Thr) | dbSNP |
| 2 | g.38071107T= | CA1245626125 | CYP1B1 | c.1247A= (p.Lys416=) n.625A= c.134A= (p.Lys45=) | |
| 2 | g.38071108T>A | CA346327559 | CYP1B1 | c.1246A>T (p.Lys416Ter) n.624A>T c.133A>T (p.Lys45Ter) | |
| 2 | g.38071108T>C | CA45506389 | CYP1B1 | c.1246A>G (p.Lys416Glu) n.624A>G c.133A>G (p.Lys45Glu) | dbSNP gnomAD v3 gnomAD v4 |