Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38071099_38071100del | CA2586969064 | CYP1B1 | c.1256_1257del (p.Val419GlyfsTer11) n.634_635del c.143_144del (p.Val48GlyfsTer11) | |
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 |
2 | g.38071108T>G | CA346327560 | CYP1B1 | c.1246A>C (p.Lys416Gln) n.624A>C c.133A>C (p.Lys45Gln) | |
2 | g.38071108T= | CA1245626126 | CYP1B1 | c.1246A= (p.Lys416=) n.624A= c.133A= (p.Lys45=) | |
2 | g.38071109G>A | CA425864536 | CYP1B1 | c.1245C>T (p.Pro415=) n.623C>T c.132C>T (p.Pro44=) | ClinVar dbSNP |
2 | g.38071109G>C | CA425864538 | CYP1B1 | c.1245C>G (p.Pro415=) n.623C>G c.132C>G (p.Pro44=) | |
2 | g.38071109G>T | CA425864540 | CYP1B1 | c.1245C>A (p.Pro415=) n.623C>A c.132C>A (p.Pro44=) | |
2 | g.38071110G>A | CA346327561 | CYP1B1 | c.1244C>T (p.Pro415Leu) n.622C>T c.131C>T (p.Pro44Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071110G>C | CA346327563 | CYP1B1 | c.1244C>G (p.Pro415Arg) n.622C>G c.131C>G (p.Pro44Arg) | gnomAD v4 |
2 | g.38071110G= | CA1245626127 | CYP1B1 | c.1244C= (p.Pro415=) n.622C= c.131C= (p.Pro44=) | |
2 | g.38071110G>T | CA346327562 | CYP1B1 | c.1244C>A (p.Pro415His) n.622C>A c.131C>A (p.Pro44His) | |
2 | g.38071111G>A | CA346327564 | CYP1B1 | c.1243C>T (p.Pro415Ser) n.621C>T c.130C>T (p.Pro44Ser) | |
2 | g.38071111G>C | CA346327565 | CYP1B1 | c.1243C>G (p.Pro415Ala) n.621C>G c.130C>G (p.Pro44Ala) | |
2 | g.38071111G>T | CA346327566 | CYP1B1 | c.1243C>A (p.Pro415Thr) n.621C>A c.130C>A (p.Pro44Thr) | |
2 | g.38071112A>C | CA346327567 | CYP1B1 | c.1242T>G (p.Ile414Met) n.620T>G c.129T>G (p.Ile43Met) | |
2 | g.38071112A>G | CA425864543 | CYP1B1 | c.1242T>C (p.Ile414=) n.620T>C c.129T>C (p.Ile43=) | |
2 | g.38071112A>T | CA425864542 | CYP1B1 | c.1242T>A (p.Ile414=) n.620T>A c.129T>A (p.Ile43=) | gnomAD v4 |
2 | g.38071113dup | CA2658667726 | CYP1B1 | c.1242dup (p.Pro415SerfsTer16) n.620dup c.129dup (p.Pro44SerfsTer16) | gnomAD v4 |
2 | g.38071112_38071115delinsCTTT | CA2586969065 | CYP1B1 | c.1239_1242delinsAAAG (p.His413_Ile414delinsGlnLys) n.617_620delinsAAAG c.126_129delinsAAAG (p.His42_Ile43delinsGlnLys) | |
2 | g.38071113A>C | CA346327568 | CYP1B1 | c.1241T>G (p.Ile414Ser) n.619T>G c.128T>G (p.Ile43Ser) | gnomAD v4 |