| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071156_38071161del | CA2586969068 | CYP1B1 | c.1195_1200del (p.Ile399_Pro400del) n.573_578del c.82_87del (p.Ile28_Pro29del) | |
| 2 | g.38071161G>A | CA346327662 | CYP1B1 | c.1193C>T (p.Thr398Ile) n.571C>T c.80C>T (p.Thr27Ile) | dbSNP |
| 2 | g.38071161G>C | CA346327663 | CYP1B1 | c.1193C>G (p.Thr398Ser) n.571C>G c.80C>G (p.Thr27Ser) | gnomAD v4 |
| 2 | g.38071161G= | CA1245626155 | CYP1B1 | c.1193C= (p.Thr398=) n.571C= c.80C= (p.Thr27=) | |
| 2 | g.38071161G>T | CA346327664 | CYP1B1 | c.1193C>A (p.Thr398Asn) n.571C>A c.80C>A (p.Thr27Asn) | |
| 2 | g.38071162T>A | CA346327665 | CYP1B1 | c.1192A>T (p.Thr398Ser) n.570A>T c.79A>T (p.Thr27Ser) | |
| 2 | g.38071162T>C | CA346327666 | CYP1B1 | c.1192A>G (p.Thr398Ala) n.570A>G c.79A>G (p.Thr27Ala) | |
| 2 | g.38071162T>G | CA346327667 | CYP1B1 | c.1192A>C (p.Thr398Pro) n.570A>C c.79A>C (p.Thr27Pro) | |
| 2 | g.38071163G>A | CA425864602 | CYP1B1 | c.1191C>T (p.Val397=) n.569C>T c.78C>T (p.Val26=) | ClinVar |
| 2 | g.38071163G>C | CA425864603 | CYP1B1 | c.1191C>G (p.Val397=) n.569C>G c.78C>G (p.Val26=) | |
| 2 | g.38071163G>T | CA425864604 | CYP1B1 | c.1191C>A (p.Val397=) n.569C>A c.78C>A (p.Val26=) | |
| 2 | g.38071164A= | CA1245626156 | CYP1B1 | c.1190T= (p.Val397=) n.568T= c.77T= (p.Val26=) | |
| 2 | g.38071164A>C | CA346327668 | CYP1B1 | c.1190T>G (p.Val397Gly) n.568T>G c.77T>G (p.Val26Gly) | |
| 2 | g.38071164A>G | CA346327669 | CYP1B1 | c.1190T>C (p.Val397Ala) n.568T>C c.77T>C (p.Val26Ala) | |
| 2 | g.38071164A>T | CA1619840 | CYP1B1 | c.1190T>A (p.Val397Asp) n.568T>A c.77T>A (p.Val26Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071165C>A | CA346327670 | CYP1B1 | c.1189G>T (p.Val397Phe) n.567G>T c.76G>T (p.Val26Phe) | |
| 2 | g.38071165C= | CA1245626157 | CYP1B1 | c.1189G= (p.Val397=) n.567G= c.76G= (p.Val26=) | |
| 2 | g.38071165C>G | CA346327671 | CYP1B1 | c.1189G>C (p.Val397Leu) n.567G>C c.76G>C (p.Val26Leu) | dbSNP gnomAD v4 |
| 2 | g.38071165C>T | CA346327672 | CYP1B1 | c.1189G>A (p.Val397Ile) n.567G>A c.76G>A (p.Val26Ile) | |
| 2 | g.38071166A>C | CA425864608 | CYP1B1 | c.1188T>G (p.Pro396=) n.566T>G c.75T>G (p.Pro25=) | |
| 2 | g.38071166A>G | CA425864609 | CYP1B1 | c.1188T>C (p.Pro396=) n.566T>C c.75T>C (p.Pro25=) | |
| 2 | g.38071166A>T | CA425864610 | CYP1B1 | c.1188T>A (p.Pro396=) n.566T>A c.75T>A (p.Pro25=) | |
| 2 | g.38071166_38071167del | CA2658667731 | CYP1B1 | c.1187_1188del (p.Pro396ArgfsTer?) n.565_566del c.74_75del (p.Pro25ArgfsTer?) | gnomAD v4 |
| 2 | g.38071167G>A | CA346327675 | CYP1B1 | c.1187C>T (p.Pro396Leu) n.565C>T c.74C>T (p.Pro25Leu) | |
| 2 | g.38071167G>C | CA346327674 | CYP1B1 | c.1187C>G (p.Pro396Arg) n.565C>G c.74C>G (p.Pro25Arg) | |
| 2 | g.38071167G>T | CA346327673 | CYP1B1 | c.1187C>A (p.Pro396His) n.565C>A c.74C>A (p.Pro25His) | gnomAD v4 |
| 2 | g.38071168G>A | CA346327676 | CYP1B1 | c.1186C>T (p.Pro396Ser) n.564C>T c.73C>T (p.Pro25Ser) | gnomAD v4 |
| 2 | g.38071168G>C | CA346327677 | CYP1B1 | c.1186C>G (p.Pro396Ala) n.564C>G c.73C>G (p.Pro25Ala) | |
| 2 | g.38071168G>T | CA346327678 | CYP1B1 | c.1186C>A (p.Pro396Thr) n.564C>A c.73C>A (p.Pro25Thr) | gnomAD v4 |
| 2 | g.38071169C>A | CA425864613 | CYP1B1 | c.1185G>T (p.Val395=) n.563G>T c.72G>T (p.Val24=) | ClinVar dbSNP |
| 2 | g.38071169C= | CA1245626158 | CYP1B1 | c.1185G= (p.Val395=) n.563G= c.72G= (p.Val24=) | |
| 2 | g.38071169C>G | CA425864615 | CYP1B1 | c.1185G>C (p.Val395=) n.563G>C c.72G>C (p.Val24=) | |
| 2 | g.38071169C>T | CA425864616 | CYP1B1 | c.1185G>A (p.Val395=) n.563G>A c.72G>A (p.Val24=) | |
| 2 | g.38071170A= | CA1245626159 | CYP1B1 | c.1184T= (p.Val395=) n.562T= c.71T= (p.Val24=) | |
| 2 | g.38071170A>C | CA346327679 | CYP1B1 | c.1184T>G (p.Val395Gly) n.562T>G c.71T>G (p.Val24Gly) | |
| 2 | g.38071170A>G | CA1619841 | CYP1B1 | c.1184T>C (p.Val395Ala) n.562T>C c.71T>C (p.Val24Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071170A>T | CA346327680 | CYP1B1 | c.1184T>A (p.Val395Glu) n.562T>A c.71T>A (p.Val24Glu) | |
| 2 | g.38071171C>A | CA346327681 | CYP1B1 | c.1183G>T (p.Val395Leu) n.561G>T c.70G>T (p.Val24Leu) | gnomAD v4 |
| 2 | g.38071171C= | CA1245626160 | CYP1B1 | c.1183G= (p.Val395=) n.561G= c.70G= (p.Val24=) | |
| 2 | g.38071171C>G | CA1619842 | CYP1B1 | c.1183G>C (p.Val395Leu) n.561G>C c.70G>C (p.Val24Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071171C>T | CA346327682 | CYP1B1 | c.1183G>A (p.Val395Met) n.561G>A c.70G>A (p.Val24Met) | |
| 2 | g.38071172A= | CA1245626161 | CYP1B1 | c.1182T= (p.Phe394=) n.560T= c.69T= (p.Phe23=) | |
| 2 | g.38071172A>C | CA346327683 | CYP1B1 | c.1182T>G (p.Phe394Leu) n.560T>G c.69T>G (p.Phe23Leu) | |
| 2 | g.38071172A>G | CA1619843 | CYP1B1 | c.1182T>C (p.Phe394=) n.560T>C c.69T>C (p.Phe23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071172A>T | CA346327684 | CYP1B1 | c.1182T>A (p.Phe394Leu) n.560T>A c.69T>A (p.Phe23Leu) | |
| 2 | g.38071173A>C | CA346327687 | CYP1B1 | c.1181T>G (p.Phe394Cys) n.559T>G c.68T>G (p.Phe23Cys) | |
| 2 | g.38071173A>G | CA346327686 | CYP1B1 | c.1181T>C (p.Phe394Ser) n.559T>C c.68T>C (p.Phe23Ser) | |
| 2 | g.38071173A>T | CA346327685 | CYP1B1 | c.1181T>A (p.Phe394Tyr) n.559T>A c.68T>A (p.Phe23Tyr) | |
| 2 | g.38071174A>C | CA346327688 | CYP1B1 | c.1180T>G (p.Phe394Val) n.558T>G c.67T>G (p.Phe23Val) | |
| 2 | g.38071174A>G | CA346327689 | CYP1B1 | c.1180T>C (p.Phe394Leu) n.558T>C c.67T>C (p.Phe23Leu) |