Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38071087T>A | CA119017 | CYP1B1 | c.1267A>T (p.Asn423Tyr) n.645A>T c.154A>T (p.Asn52Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071087T>C | CA346327514 | CYP1B1 | c.1267A>G (p.Asn423Asp) n.645A>G c.154A>G (p.Asn52Asp) | |
2 | g.38071087T>G | CA346327515 | CYP1B1 | c.1267A>C (p.Asn423His) n.645A>C c.154A>C (p.Asn52His) | |
2 | g.38071087T= | CA1245626115 | CYP1B1 | c.1267A= (p.Asn423=) n.645A= c.154A= (p.Asn52=) | |
2 | g.38071088G>A | CA45506359 | CYP1B1 | c.1266C>T (p.Val422=) n.644C>T c.153C>T (p.Val51=) | dbSNP gnomAD v4 |
2 | g.38071088G>C | CA425864517 | CYP1B1 | c.1266C>G (p.Val422=) n.644C>G c.153C>G (p.Val51=) | |
2 | g.38071088G= | CA1245626116 | CYP1B1 | c.1266C= (p.Val422=) n.644C= c.153C= (p.Val51=) | |
2 | g.38071088G>T | CA425864518 | CYP1B1 | c.1266C>A (p.Val422=) n.644C>A c.153C>A (p.Val51=) | dbSNP gnomAD v4 |
2 | g.38071089A>C | CA346327516 | CYP1B1 | c.1265T>G (p.Val422Gly) n.643T>G c.152T>G (p.Val51Gly) | |
2 | g.38071089A>G | CA346327517 | CYP1B1 | c.1265T>C (p.Val422Ala) n.643T>C c.152T>C (p.Val51Ala) | |
2 | g.38071089A>T | CA346327518 | CYP1B1 | c.1265T>A (p.Val422Asp) n.643T>A c.152T>A (p.Val51Asp) | |
2 | g.38071089_38071090insAAGAAAA | CA2749544586 | CYP1B1 | c.1265_1266insTTTCTTT (p.Asn423PhefsTer10) n.643_644insTTTCTTT c.152_153insTTTCTTT (p.Asn52PhefsTer10) | |
2 | g.38071090C>A | CA346327519 | CYP1B1 | c.1264G>T (p.Val422Phe) n.642G>T c.151G>T (p.Val51Phe) | |
2 | g.38071090C= | CA1245626117 | CYP1B1 | c.1264G= (p.Val422=) n.642G= c.151G= (p.Val51=) | |
2 | g.38071090C>G | CA346327520 | CYP1B1 | c.1264G>C (p.Val422Leu) n.642G>C c.151G>C (p.Val51Leu) | |
2 | g.38071090C>T | CA1619828 | CYP1B1 | c.1264G>A (p.Val422Ile) n.642G>A c.151G>A (p.Val51Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071091A= | CA1245626118 | CYP1B1 | c.1263T= (p.Phe421=) n.641T= c.150T= (p.Phe50=) | |
2 | g.38071091A>C | CA346327522 | CYP1B1 | c.1263T>G (p.Phe421Leu) n.641T>G c.150T>G (p.Phe50Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071091A>G | CA45506368 | CYP1B1 | c.1263T>C (p.Phe421=) n.641T>C c.150T>C (p.Phe50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071091A>T | CA346327521 | CYP1B1 | c.1263T>A (p.Phe421Leu) n.641T>A c.150T>A (p.Phe50Leu) | |
2 | g.38071095del | CA2698954867 | CYP1B1 | c.1263del (p.Phe421LeufsTer7) n.641del c.150del (p.Phe50LeufsTer7) | dbSNP |
2 | g.38071092A>C | CA346327524 | CYP1B1 | c.1262T>G (p.Phe421Cys) n.640T>G c.149T>G (p.Phe50Cys) | |
2 | g.38071092A>G | CA346327523 | CYP1B1 | c.1262T>C (p.Phe421Ser) n.640T>C c.149T>C (p.Phe50Ser) | |
2 | g.38071092A>T | CA346327525 | CYP1B1 | c.1262T>A (p.Phe421Tyr) n.640T>A c.149T>A (p.Phe50Tyr) | |
2 | g.38071093A>C | CA346327526 | CYP1B1 | c.1261T>G (p.Phe421Val) n.639T>G c.148T>G (p.Phe50Val) | |
2 | g.38071093A>G | CA346327528 | CYP1B1 | c.1261T>C (p.Phe421Leu) n.639T>C c.148T>C (p.Phe50Leu) | |
2 | g.38071093A>T | CA346327527 | CYP1B1 | c.1261T>A (p.Phe421Ile) n.639T>A c.148T>A (p.Phe50Ile) | |
2 | g.38071094A>C | CA425864522 | CYP1B1 | c.1260T>G (p.Val420=) n.638T>G c.147T>G (p.Val49=) | |
2 | g.38071094A>G | CA425864523 | CYP1B1 | c.1260T>C (p.Val420=) n.638T>C c.147T>C (p.Val49=) | |
2 | g.38071094A>T | CA425864524 | CYP1B1 | c.1260T>A (p.Val420=) n.638T>A c.147T>A (p.Val49=) | |
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 |
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 |
2 | g.38071113A>G | CA346327570 | CYP1B1 | c.1241T>C (p.Ile414Thr) n.619T>C c.128T>C (p.Ile43Thr) | |
2 | g.38071113A>T | CA346327569 | CYP1B1 | c.1241T>A (p.Ile414Asn) n.619T>A c.128T>A (p.Ile43Asn) | |
2 | g.38071114T>A | CA346327571 | CYP1B1 | c.1240A>T (p.Ile414Phe) n.618A>T c.127A>T (p.Ile43Phe) | dbSNP gnomAD v4 |
2 | g.38071114T>C | CA1619831 | CYP1B1 | c.1240A>G (p.Ile414Val) n.618A>G c.127A>G (p.Ile43Val) | dbSNP ExAC gnomAD v2 |
2 | g.38071114T>G | CA346327572 | CYP1B1 | c.1240A>C (p.Ile414Leu) n.618A>C c.127A>C (p.Ile43Leu) | |
2 | g.38071114T= | CA1245626128 | CYP1B1 | c.1240A= (p.Ile414=) n.618A= c.127A= (p.Ile43=) | |
2 | g.38071115G>A | CA425864546 | CYP1B1 | c.1239C>T (p.His413=) n.617C>T c.126C>T (p.His42=) | ClinVar |
2 | g.38071115G>C | CA346327573 | CYP1B1 | c.1239C>G (p.His413Gln) n.617C>G c.126C>G (p.His42Gln) | |
2 | g.38071115G>T | CA346327574 | CYP1B1 | c.1239C>A (p.His413Gln) n.617C>A c.126C>A (p.His42Gln) | gnomAD v4 |
2 | g.38071116T>A | CA346327575 | CYP1B1 | c.1238A>T (p.His413Leu) n.616A>T c.125A>T (p.His42Leu) | |
2 | g.38071116T>C | CA346327576 | CYP1B1 | c.1238A>G (p.His413Arg) n.616A>G c.125A>G (p.His42Arg) | |
2 | g.38071116T>G | CA346327577 | CYP1B1 | c.1238A>C (p.His413Pro) n.616A>C c.125A>C (p.His42Pro) | |
2 | g.38071117G>A | CA346327578 | CYP1B1 | c.1237C>T (p.His413Tyr) n.615C>T c.124C>T (p.His42Tyr) | |
2 | g.38071117G>C | CA346327579 | CYP1B1 | c.1237C>G (p.His413Asp) n.615C>G c.124C>G (p.His42Asp) | |
2 | g.38071117G>T | CA346327580 | CYP1B1 | c.1237C>A (p.His413Asn) n.615C>A c.124C>A (p.His42Asn) | |
2 | g.38071118G>A | CA425864547 | CYP1B1 | c.1236C>T (p.Tyr412=) n.614C>T c.123C>T (p.Tyr41=) | dbSNP |
2 | g.38071118G>C | CA346327582 | CYP1B1 | c.1236C>G (p.Tyr412Ter) n.614C>G c.123C>G (p.Tyr41Ter) | |
2 | g.38071118G>T | CA346327581 | CYP1B1 | c.1236C>A (p.Tyr412Ter) n.614C>A c.123C>A (p.Tyr41Ter) | |
2 | g.38071119T>A | CA346327583 | CYP1B1 | c.1235A>T (p.Tyr412Phe) n.613A>T c.122A>T (p.Tyr41Phe) | |
2 | g.38071119T>C | CA1619832 | CYP1B1 | c.1235A>G (p.Tyr412Cys) n.613A>G c.122A>G (p.Tyr41Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071119T>G | CA346327584 | CYP1B1 | c.1235A>C (p.Tyr412Ser) n.613A>C c.122A>C (p.Tyr41Ser) | |
2 | g.38071119T= | CA1245626129 | CYP1B1 | c.1235A= (p.Tyr412=) n.613A= c.122A= (p.Tyr41=) | |
2 | g.38071120A= | CA1245626130 | CYP1B1 | c.1234T= (p.Tyr412=) n.612T= c.121T= (p.Tyr41=) | |
2 | g.38071120A>C | CA346327585 | CYP1B1 | c.1234T>G (p.Tyr412Asp) n.612T>G c.121T>G (p.Tyr41Asp) | |
2 | g.38071120A>G | CA346327586 | CYP1B1 | c.1234T>C (p.Tyr412His) n.612T>C c.121T>C (p.Tyr41His) | |
2 | g.38071120A>T | CA346327587 | CYP1B1 | c.1234T>A (p.Tyr412Asn) n.612T>A c.121T>A (p.Tyr41Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071121G>A | CA45506435 | CYP1B1 | c.1233C>T (p.Gly411=) n.611C>T c.120C>T (p.Gly40=) | dbSNP |
2 | g.38071121G>C | CA425864551 | CYP1B1 | c.1233C>G (p.Gly411=) n.611C>G c.120C>G (p.Gly40=) | |
2 | g.38071121G= | CA1245626131 | CYP1B1 | c.1233C= (p.Gly411=) n.611C= c.120C= (p.Gly40=) | |
2 | g.38071121G>T | CA425864552 | CYP1B1 | c.1233C>A (p.Gly411=) n.611C>A c.120C>A (p.Gly40=) | |
2 | g.38071122C>A | CA346327588 | CYP1B1 | c.1232G>T (p.Gly411Val) n.610G>T c.119G>T (p.Gly40Val) | |
2 | g.38071122C>G | CA346327589 | CYP1B1 | c.1232G>C (p.Gly411Ala) n.610G>C c.119G>C (p.Gly40Ala) | |
2 | g.38071122C>T | CA346327590 | CYP1B1 | c.1232G>A (p.Gly411Asp) n.610G>A c.119G>A (p.Gly40Asp) | gnomAD v4 |
2 | g.38071123C>A | CA346327591 | CYP1B1 | c.1231G>T (p.Gly411Cys) n.609G>T c.118G>T (p.Gly40Cys) | |
2 | g.38071123C>G | CA346327592 | CYP1B1 | c.1231G>C (p.Gly411Arg) n.609G>C c.118G>C (p.Gly40Arg) | |
2 | g.38071123C>T | CA346327593 | CYP1B1 | c.1231G>A (p.Gly411Ser) n.609G>A c.118G>A (p.Gly40Ser) | gnomAD v4 |
2 | g.38071124C>A | CA346327594 | CYP1B1 | c.1230G>T (p.Leu410Phe) n.608G>T c.117G>T (p.Leu39Phe) | dbSNP |
2 | g.38071124C>G | CA346327595 | CYP1B1 | c.1230G>C (p.Leu410Phe) n.608G>C c.117G>C (p.Leu39Phe) | |
2 | g.38071124C>T | CA425864553 | CYP1B1 | c.1230G>A (p.Leu410=) n.608G>A c.117G>A (p.Leu39=) | gnomAD v4 |
2 | g.38071125A>C | CA346327596 | CYP1B1 | c.1229T>G (p.Leu410Trp) n.607T>G c.116T>G (p.Leu39Trp) | |
2 | g.38071125A>G | CA346327598 | CYP1B1 | c.1229T>C (p.Leu410Ser) n.607T>C c.116T>C (p.Leu39Ser) | |
2 | g.38071125A>T | CA346327597 | CYP1B1 | c.1229T>A (p.Leu410Ter) n.607T>A c.116T>A (p.Leu39Ter) | |
2 | g.38071126A>C | CA346327599 | CYP1B1 | c.1228T>G (p.Leu410Val) n.606T>G c.115T>G (p.Leu39Val) | |
2 | g.38071126A>G | CA425864555 | CYP1B1 | c.1228T>C (p.Leu410=) n.606T>C c.115T>C (p.Leu39=) | |
2 | g.38071126A>T | CA346327600 | CYP1B1 | c.1228T>A (p.Leu410Met) n.606T>A c.115T>A (p.Leu39Met) | |
2 | g.38071127G>A | CA425864556 | CYP1B1 | c.1227C>T (p.Val409=) n.605C>T c.114C>T (p.Val38=) | |
2 | g.38071127G>C | CA1619833 | CYP1B1 | c.1227C>G (p.Val409=) n.605C>G c.114C>G (p.Val38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071127G= | CA1245626132 | CYP1B1 | c.1227C= (p.Val409=) n.605C= c.114C= (p.Val38=) | |
2 | g.38071127G>T | CA425864557 | CYP1B1 | c.1227C>A (p.Val409=) n.605C>A c.114C>A (p.Val38=) | |
2 | g.38071128A>C | CA346327601 | CYP1B1 | c.1226T>G (p.Val409Gly) n.604T>G c.113T>G (p.Val38Gly) | |
2 | g.38071128A>G | CA346327602 | CYP1B1 | c.1226T>C (p.Val409Ala) n.604T>C c.113T>C (p.Val38Ala) | gnomAD v4 |
2 | g.38071128A>T | CA346327603 | CYP1B1 | c.1226T>A (p.Val409Asp) n.604T>A c.113T>A (p.Val38Asp) | |
2 | g.38071129C>A | CA45506456 | CYP1B1 | c.1225G>T (p.Val409Phe) n.603G>T c.112G>T (p.Val38Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071129C= | CA1245626133 | CYP1B1 | c.1225G= (p.Val409=) n.603G= c.112G= (p.Val38=) | |
2 | g.38071129C>G | CA346327604 | CYP1B1 | c.1225G>C (p.Val409Leu) n.603G>C c.112G>C (p.Val38Leu) | |
2 | g.38071129C>T | CA346327605 | CYP1B1 | c.1225G>A (p.Val409Ile) n.603G>A c.112G>A (p.Val38Ile) | |
2 | g.38071129_38071131delinsCAG | CA1245626134 | CYP1B1 | c.1223_1225delinsCTG (p.Ser408=) n.601_603delinsCTG c.110_112delinsCTG (p.Ser37=) | |
2 | g.38071130A>C | CA425864558 | CYP1B1 | c.1224T>G (p.Ser408=) n.602T>G c.111T>G (p.Ser37=) | |
2 | g.38071130A>G | CA425864559 | CYP1B1 | c.1224T>C (p.Ser408=) n.602T>C c.111T>C (p.Ser37=) | |
2 | g.38071130A>T | CA425864560 | CYP1B1 | c.1224T>A (p.Ser408=) n.602T>A c.111T>A (p.Ser37=) | |
2 | g.38071132_38071133del | CA768462345 | CYP1B1 | c.1223_1224del (p.Ser408CysfsTer22) n.601_602del c.110_111del (p.Ser37CysfsTer22) | ClinVar dbSNP gnomAD v4 |
2 | g.38071131G>A | CA346327607 | CYP1B1 | c.1223C>T (p.Ser408Phe) n.601C>T c.110C>T (p.Ser37Phe) | |
2 | g.38071131G>C | CA346327608 | CYP1B1 | c.1223C>G (p.Ser408Cys) n.601C>G c.110C>G (p.Ser37Cys) | |
2 | g.38071131G>T | CA346327606 | CYP1B1 | c.1223C>A (p.Ser408Tyr) n.601C>A c.110C>A (p.Ser37Tyr) | |
2 | g.38071132A>C | CA346327609 | CYP1B1 | c.1222T>G (p.Ser408Ala) n.600T>G c.109T>G (p.Ser37Ala) | |
2 | g.38071132A>G | CA346327610 | CYP1B1 | c.1222T>C (p.Ser408Pro) n.600T>C c.109T>C (p.Ser37Pro) | |
2 | g.38071132A>T | CA346327611 | CYP1B1 | c.1222T>A (p.Ser408Thr) n.600T>A c.109T>A (p.Ser37Thr) | |
2 | g.38071133G>A | CA425864564 | CYP1B1 | c.1221C>T (p.Thr407=) n.599C>T c.108C>T (p.Thr36=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071133G>C | CA425864563 | CYP1B1 | c.1221C>G (p.Thr407=) n.599C>G c.108C>G (p.Thr36=) | |
2 | g.38071133G= | CA1245626135 | CYP1B1 | c.1221C= (p.Thr407=) n.599C= c.108C= (p.Thr36=) | |
2 | g.38071133G>T | CA425864562 | CYP1B1 | c.1221C>A (p.Thr407=) n.599C>A c.108C>A (p.Thr36=) | |
2 | g.38071134G>A | CA1619834 | CYP1B1 | c.1220C>T (p.Thr407Ile) n.598C>T c.107C>T (p.Thr36Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.38071134G>C | CA346327612 | CYP1B1 | c.1220C>G (p.Thr407Ser) n.598C>G c.107C>G (p.Thr36Ser) | gnomAD v4 |
2 | g.38071134G= | CA1245626136 | CYP1B1 | c.1220C= (p.Thr407=) n.598C= c.107C= (p.Thr36=) | |
2 | g.38071134G>T | CA346327613 | CYP1B1 | c.1220C>A (p.Thr407Asn) n.598C>A c.107C>A (p.Thr36Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071135T>A | CA346327615 | CYP1B1 | c.1219A>T (p.Thr407Ser) n.597A>T c.106A>T (p.Thr36Ser) | |
2 | g.38071135T>C | CA1619835 | CYP1B1 | c.1219A>G (p.Thr407Ala) n.597A>G c.106A>G (p.Thr36Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.38071135T>G | CA346327614 | CYP1B1 | c.1219A>C (p.Thr407Pro) n.597A>C c.106A>C (p.Thr36Pro) | |
2 | g.38071135T= | CA1245626137 | CYP1B1 | c.1219A= (p.Thr407=) n.597A= c.106A= (p.Thr36=) | |
2 | g.38071136G>A | CA425864565 | CYP1B1 | c.1218C>T (p.Asn406=) n.596C>T c.105C>T (p.Asn35=) | |
2 | g.38071136G>C | CA346327616 | CYP1B1 | c.1218C>G (p.Asn406Lys) n.596C>G c.105C>G (p.Asn35Lys) | |
2 | g.38071136G>T | CA346327617 | CYP1B1 | c.1218C>A (p.Asn406Lys) n.596C>A c.105C>A (p.Asn35Lys) | |
2 | g.38071137T>A | CA346327618 | CYP1B1 | c.1217A>T (p.Asn406Ile) n.595A>T c.104A>T (p.Asn35Ile) | gnomAD v4 |
2 | g.38071137T>C | CA346327619 | CYP1B1 | c.1217A>G (p.Asn406Ser) n.595A>G c.104A>G (p.Asn35Ser) | |
2 | g.38071137T>G | CA346327620 | CYP1B1 | c.1217A>C (p.Asn406Thr) n.595A>C c.104A>C (p.Asn35Thr) | dbSNP |
2 | g.38071137T= | CA1245626138 | CYP1B1 | c.1217A= (p.Asn406=) n.595A= c.104A= (p.Asn35=) | |
2 | g.38071138T>A | CA346327621 | CYP1B1 | c.1216A>T (p.Asn406Tyr) n.594A>T c.103A>T (p.Asn35Tyr) | |
2 | g.38071138T>C | CA346327623 | CYP1B1 | c.1216A>G (p.Asn406Asp) n.594A>G c.103A>G (p.Asn35Asp) | |
2 | g.38071138T>G | CA346327622 | CYP1B1 | c.1216A>C (p.Asn406His) n.594A>C c.103A>C (p.Asn35His) | dbSNP |
2 | g.38071139G>A | CA425864569 | CYP1B1 | c.1215C>T (p.Ala405=) n.593C>T c.102C>T (p.Ala34=) | |
2 | g.38071139G>C | CA425864566 | CYP1B1 | c.1215C>G (p.Ala405=) n.593C>G c.102C>G (p.Ala34=) | |
2 | g.38071139G>T | CA425864567 | CYP1B1 | c.1215C>A (p.Ala405=) n.593C>A c.102C>A (p.Ala34=) | gnomAD v4 |
2 | g.38071140G>A | CA1619836 | CYP1B1 | c.1214C>T (p.Ala405Val) n.592C>T c.101C>T (p.Ala34Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071140G>C | CA346327624 | CYP1B1 | c.1214C>G (p.Ala405Gly) n.592C>G c.101C>G (p.Ala34Gly) | |
2 | g.38071140G= | CA1245626139 | CYP1B1 | c.1214C= (p.Ala405=) n.592C= c.101C= (p.Ala34=) | |
2 | g.38071140G>T | CA346327625 | CYP1B1 | c.1214C>A (p.Ala405Asp) n.592C>A c.101C>A (p.Ala34Asp) | |
2 | g.38071141C>A | CA346327626 | CYP1B1 | c.1213G>T (p.Ala405Ser) n.591G>T c.100G>T (p.Ala34Ser) | |
2 | g.38071141C= | CA1245626140 | CYP1B1 | c.1213G= (p.Ala405=) n.591G= c.100G= (p.Ala34=) | |
2 | g.38071141C>G | CA346327627 | CYP1B1 | c.1213G>C (p.Ala405Pro) n.591G>C c.100G>C (p.Ala34Pro) | |
2 | g.38071141C>T | CA1619837 | CYP1B1 | c.1213G>A (p.Ala405Thr) n.591G>A c.100G>A (p.Ala34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071142A>C | CA425864571 | CYP1B1 | c.1212T>G (p.Thr404=) n.590T>G c.99T>G (p.Thr33=) | |
2 | g.38071142A>G | CA425864572 | CYP1B1 | c.1212T>C (p.Thr404=) n.590T>C c.99T>C (p.Thr33=) | ClinVar |
2 | g.38071142A>T | CA425864573 | CYP1B1 | c.1212T>A (p.Thr404=) n.590T>A c.99T>A (p.Thr33=) | |
2 | g.38071143G>A | CA346327628 | CYP1B1 | c.1211C>T (p.Thr404Ile) n.589C>T c.98C>T (p.Thr33Ile) | dbSNP |
2 | g.38071143G>C | CA346327629 | CYP1B1 | c.1211C>G (p.Thr404Ser) n.589C>G c.98C>G (p.Thr33Ser) | |
2 | g.38071143G= | CA1245626141 | CYP1B1 | c.1211C= (p.Thr404=) n.589C= c.98C= (p.Thr33=) | |
2 | g.38071143G>T | CA346327630 | CYP1B1 | c.1211C>A (p.Thr404Asn) n.589C>A c.98C>A (p.Thr33Asn) | |
2 | g.38071144_38071145del | CA2658667729 | CYP1B1 | c.1210_1211del (p.Thr404CysfsTer26) n.588_589del c.97_98del (p.Thr33CysfsTer26) | gnomAD v4 |
2 | g.38071144_38071153dup | CA2586969066 | CYP1B1 | c.1202_1211dup (p.Ala405CysfsTer29) n.580_589dup c.89_98dup (p.Ala34CysfsTer29) | |
2 | g.38071144T>A | CA346327631 | CYP1B1 | c.1210A>T (p.Thr404Ser) n.588A>T c.97A>T (p.Thr33Ser) | dbSNP gnomAD v2 |
2 | g.38071144T>C | CA346327632 | CYP1B1 | c.1210A>G (p.Thr404Ala) n.588A>G c.97A>G (p.Thr33Ala) | |
2 | g.38071144T>G | CA346327633 | CYP1B1 | c.1210A>C (p.Thr404Pro) n.588A>C c.97A>C (p.Thr33Pro) | |
2 | g.38071144T= | CA1245626143 | CYP1B1 | c.1210A= (p.Thr404=) n.588A= c.97A= (p.Thr33=) | |
2 | g.38071144dup | CA768462386 | CYP1B1 | c.1210dup (p.Thr404AsnfsTer27) n.588dup c.97dup (p.Thr33AsnfsTer27) | dbSNP |
2 | g.38071144_38071154delinsTGGTGGCATGA | CA1245626142 | CYP1B1 | c.1200_1210delinsTCATGCCACCA (p.Pro400=) n.578_588delinsTCATGCCACCA c.87_97delinsTCATGCCACCA (p.Pro29=) | |
2 | g.38071145G>A | CA425864574 | CYP1B1 | c.1209C>T (p.Thr403=) n.587C>T c.96C>T (p.Thr32=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071145G>C | CA425864576 | CYP1B1 | c.1209C>G (p.Thr403=) n.587C>G c.96C>G (p.Thr32=) | |
2 | g.38071145G= | CA1245626144 | CYP1B1 | c.1209C= (p.Thr403=) n.587C= c.96C= (p.Thr32=) | |
2 | g.38071145G>T | CA425864578 | CYP1B1 | c.1209C>A (p.Thr403=) n.587C>A c.96C>A (p.Thr32=) | |
2 | g.38071147_38071156dup | CA145181 | CYP1B1 | c.1200_1209dup (p.Thr404SerfsTer30) n.578_587dup c.87_96dup (p.Thr33SerfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.38071145_38071156dup | CA2586969067 | CYP1B1 | c.1198_1209dup (p.Thr403_Thr404insProHisAlaThr) n.576_587dup c.85_96dup (p.Thr32_Thr33insProHisAlaThr) | |
2 | g.38071147_38071156del | CA45506498 | CYP1B1 | c.1200_1209del (p.His401LeufsTer24) n.578_587del c.87_96del (p.His30LeufsTer24) | dbSNP |
2 | g.38071146G>A | CA346327635 | CYP1B1 | c.1208C>T (p.Thr403Ile) n.586C>T c.95C>T (p.Thr32Ile) | dbSNP |
2 | g.38071146G>C | CA346327634 | CYP1B1 | c.1208C>G (p.Thr403Ser) n.586C>G c.95C>G (p.Thr32Ser) | |
2 | g.38071146G= | CA1245626145 | CYP1B1 | c.1208C= (p.Thr403=) n.586C= c.95C= (p.Thr32=) | |
2 | g.38071146G>T | CA346327636 | CYP1B1 | c.1208C>A (p.Thr403Asn) n.586C>A c.95C>A (p.Thr32Asn) | |
2 | g.38071147T>A | CA346327637 | CYP1B1 | c.1207A>T (p.Thr403Ser) n.585A>T c.94A>T (p.Thr32Ser) | |
2 | g.38071147T>C | CA346327638 | CYP1B1 | c.1207A>G (p.Thr403Ala) n.585A>G c.94A>G (p.Thr32Ala) | |
2 | g.38071147T>G | CA346327639 | CYP1B1 | c.1207A>C (p.Thr403Pro) n.585A>C c.94A>C (p.Thr32Pro) | |
2 | g.38071148G>A | CA425864581 | CYP1B1 | c.1206C>T (p.Ala402=) n.584C>T c.93C>T (p.Ala31=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071148G>C | CA425864582 | CYP1B1 | c.1206C>G (p.Ala402=) n.584C>G c.93C>G (p.Ala31=) | |
2 | g.38071148G= | CA1245626146 | CYP1B1 | c.1206C= (p.Ala402=) n.584C= c.93C= (p.Ala31=) | |
2 | g.38071148G>T | CA425864583 | CYP1B1 | c.1206C>A (p.Ala402=) n.584C>A c.93C>A (p.Ala31=) | |
2 | g.38071149G>A | CA346327640 | CYP1B1 | c.1205C>T (p.Ala402Val) n.583C>T c.92C>T (p.Ala31Val) | dbSNP gnomAD v2 |
2 | g.38071149G>C | CA346327641 | CYP1B1 | c.1205C>G (p.Ala402Gly) n.583C>G c.92C>G (p.Ala31Gly) | |
2 | g.38071149G= | CA1245626147 | CYP1B1 | c.1205C= (p.Ala402=) n.583C= c.92C= (p.Ala31=) | |
2 | g.38071149G>T | CA346327642 | CYP1B1 | c.1205C>A (p.Ala402Asp) n.583C>A c.92C>A (p.Ala31Asp) | gnomAD v4 |
2 | g.38071150C>A | CA346327644 | CYP1B1 | c.1204G>T (p.Ala402Ser) n.582G>T c.91G>T (p.Ala31Ser) | |
2 | g.38071150C= | CA1245626148 | CYP1B1 | c.1204G= (p.Ala402=) n.582G= c.91G= (p.Ala31=) | |
2 | g.38071150C>G | CA45506501 | CYP1B1 | c.1204G>C (p.Ala402Pro) n.582G>C c.91G>C (p.Ala31Pro) | dbSNP gnomAD v4 |
2 | g.38071150C>T | CA346327643 | CYP1B1 | c.1204G>A (p.Ala402Thr) n.582G>A c.91G>A (p.Ala31Thr) | gnomAD v4 |
2 | g.38071151A>C | CA346327645 | CYP1B1 | c.1203T>G (p.His401Gln) n.581T>G c.90T>G (p.His30Gln) | |
2 | g.38071151A>G | CA425864587 | CYP1B1 | c.1203T>C (p.His401=) n.581T>C c.90T>C (p.His30=) | |
2 | g.38071151A>T | CA346327646 | CYP1B1 | c.1203T>A (p.His401Gln) n.581T>A c.90T>A (p.His30Gln) | |
2 | g.38071152T>A | CA346327647 | CYP1B1 | c.1202A>T (p.His401Leu) n.580A>T c.89A>T (p.His30Leu) | |
2 | g.38071152T>C | CA10615175 | CYP1B1 | c.1202A>G (p.His401Arg) n.580A>G c.89A>G (p.His30Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071152T>G | CA346327648 | CYP1B1 | c.1202A>C (p.His401Pro) n.580A>C c.89A>C (p.His30Pro) | dbSNP |
2 | g.38071152T= | CA1245626149 | CYP1B1 | c.1202A= (p.His401=) n.580A= c.89A= (p.His30=) | |
2 | g.38071153G>A | CA346327649 | CYP1B1 | c.1201C>T (p.His401Tyr) n.579C>T c.88C>T (p.His30Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071153G>C | CA346327651 | CYP1B1 | c.1201C>G (p.His401Asp) n.579C>G c.88C>G (p.His30Asp) | |
2 | g.38071153G= | CA1245626150 | CYP1B1 | c.1201C= (p.His401=) n.579C= c.88C= (p.His30=) | |
2 | g.38071153G>T | CA346327650 | CYP1B1 | c.1201C>A (p.His401Asn) n.579C>A c.88C>A (p.His30Asn) | |
2 | g.38071154A>C | CA425864591 | CYP1B1 | c.1200T>G (p.Pro400=) n.578T>G c.87T>G (p.Pro29=) | |
2 | g.38071154A>G | CA425864593 | CYP1B1 | c.1200T>C (p.Pro400=) n.578T>C c.87T>C (p.Pro29=) | |
2 | g.38071154A>T | CA425864589 | CYP1B1 | c.1200T>A (p.Pro400=) n.578T>A c.87T>A (p.Pro29=) | |
2 | g.38071156_38071161del | CA2586969068 | CYP1B1 | c.1195_1200del (p.Ile399_Pro400del) n.573_578del c.82_87del (p.Ile28_Pro29del) | |
2 | g.38071155G>A | CA346327652 | CYP1B1 | c.1199C>T (p.Pro400Leu) n.577C>T c.86C>T (p.Pro29Leu) | |
2 | g.38071155G>C | CA346327653 | CYP1B1 | c.1199C>G (p.Pro400Arg) n.577C>G c.86C>G (p.Pro29Arg) | |
2 | g.38071155G>T | CA346327654 | CYP1B1 | c.1199C>A (p.Pro400His) n.577C>A c.86C>A (p.Pro29His) | |
2 | g.38071156G>A | CA1619838 | CYP1B1 | c.1198C>T (p.Pro400Ser) n.576C>T c.85C>T (p.Pro29Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.38071156G>C | CA346327655 | CYP1B1 | c.1198C>G (p.Pro400Ala) n.576C>G c.85C>G (p.Pro29Ala) | |
2 | g.38071156G= | CA1245626151 | CYP1B1 | c.1198C= (p.Pro400=) n.576C= c.85C= (p.Pro29=) | |
2 | g.38071156G>T | CA346327656 | CYP1B1 | c.1198C>A (p.Pro400Thr) n.576C>A c.85C>A (p.Pro29Thr) | dbSNP gnomAD v4 |
2 | g.38071157A>C | CA346327657 | CYP1B1 | c.1197T>G (p.Ile399Met) n.575T>G c.84T>G (p.Ile28Met) | |
2 | g.38071157A>G | CA425864596 | CYP1B1 | c.1197T>C (p.Ile399=) n.575T>C c.84T>C (p.Ile28=) | |
2 | g.38071157A>T | CA425864595 | CYP1B1 | c.1197T>A (p.Ile399=) n.575T>A c.84T>A (p.Ile28=) | |
2 | g.38071158A= | CA1245626152 | CYP1B1 | c.1196T= (p.Ile399=) n.574T= c.83T= (p.Ile28=) | |
2 | g.38071158A>C | CA45506514 | CYP1B1 | c.1196T>G (p.Ile399Ser) n.574T>G c.83T>G (p.Ile28Ser) | dbSNP |
2 | g.38071158A>G | CA346327658 | CYP1B1 | c.1196T>C (p.Ile399Thr) n.574T>C c.83T>C (p.Ile28Thr) | |
2 | g.38071158A>T | CA346327659 | CYP1B1 | c.1196T>A (p.Ile399Asn) n.574T>A c.83T>A (p.Ile28Asn) | |
2 | g.38071159T>A | CA346327661 | CYP1B1 | c.1195A>T (p.Ile399Phe) n.573A>T c.82A>T (p.Ile28Phe) | |
2 | g.38071159T>C | CA1619839 | CYP1B1 | c.1195A>G (p.Ile399Val) n.573A>G c.82A>G (p.Ile28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071159T>G | CA346327660 | CYP1B1 | c.1195A>C (p.Ile399Leu) n.573A>C c.82A>C (p.Ile28Leu) | |
2 | g.38071159T= | CA1245626153 | CYP1B1 | c.1195A= (p.Ile399=) n.573A= c.82A= (p.Ile28=) | |
2 | g.38071160A= | CA1245626154 | CYP1B1 | c.1194T= (p.Thr398=) n.572T= c.81T= (p.Thr27=) | |
2 | g.38071160A>C | CA425864599 | CYP1B1 | c.1194T>G (p.Thr398=) n.572T>G c.81T>G (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38071160A>G | CA425864601 | CYP1B1 | c.1194T>C (p.Thr398=) n.572T>C c.81T>C (p.Thr27=) | |
2 | g.38071160A>T | CA425864600 | CYP1B1 | c.1194T>A (p.Thr398=) n.572T>A c.81T>A (p.Thr27=) | |
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) | |
2 | g.38071174A>T | CA346327690 | CYP1B1 | c.1180T>A (p.Phe394Ile) n.558T>A c.67T>A (p.Phe23Ile) | |
2 | g.38071175G>A | CA425690743 | CYP1B1 | c.1179C>T (p.Ser393=) n.557C>T c.66C>T (p.Ser22=) | |
2 | g.38071175G>C | CA346327691 | CYP1B1 | c.1179C>G (p.Ser393Arg) n.557C>G c.66C>G (p.Ser22Arg) | gnomAD v4 |
2 | g.38071175G>T | CA346327692 | CYP1B1 | c.1179C>A (p.Ser393Arg) n.557C>A c.66C>A (p.Ser22Arg) | |
2 | g.38071176C>A | CA346327693 | CYP1B1 | c.1178G>T (p.Ser393Ile) n.556G>T c.65G>T (p.Ser22Ile) n.573G>T | |
2 | g.38071176C>G | CA346327694 | CYP1B1 | c.1178G>C (p.Ser393Thr) n.556G>C c.65G>C (p.Ser22Thr) n.573G>C | |
2 | g.38071176C>T | CA346327695 | CYP1B1 | c.1178G>A (p.Ser393Asn) n.556G>A c.65G>A (p.Ser22Asn) n.573G>A | |
2 | g.38071177T>A | CA346327696 | CYP1B1 | c.1177A>T (p.Ser393Cys) n.555A>T c.64A>T (p.Ser22Cys) n.572A>T | |
2 | g.38071177T>C | CA346327698 | CYP1B1 | c.1177A>G (p.Ser393Gly) n.555A>G c.64A>G (p.Ser22Gly) n.572A>G | |
2 | g.38071177T>G | CA346327697 | CYP1B1 | c.1177A>C (p.Ser393Arg) n.555A>C c.64A>C (p.Ser22Arg) n.572A>C | |
2 | g.38071178G>A | CA1619844 | CYP1B1 | c.1176C>T (p.Ser392=) n.554C>T c.63C>T (p.Ser21=) n.571C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071178G>C | CA425690744 | CYP1B1 | c.1176C>G (p.Ser392=) n.554C>G c.63C>G (p.Ser21=) n.571C>G | |
2 | g.38071178G= | CA1245626162 | CYP1B1 | c.1176C= (p.Ser392=) n.554C= c.63C= (p.Ser21=) n.571C= | |
2 | g.38071178G>T | CA425690745 | CYP1B1 | c.1176C>A (p.Ser392=) n.554C>A c.63C>A (p.Ser21=) n.571C>A | |
2 | g.38071179G>A | CA346327699 | CYP1B1 | c.1175C>T (p.Ser392Phe) n.553C>T c.62C>T (p.Ser21Phe) n.570C>T | gnomAD v4 |
2 | g.38071179G>C | CA346327700 | CYP1B1 | c.1175C>G (p.Ser392Cys) n.553C>G c.62C>G (p.Ser21Cys) n.570C>G | |
2 | g.38071179G>T | CA346327701 | CYP1B1 | c.1175C>A (p.Ser392Tyr) n.553C>A c.62C>A (p.Ser21Tyr) n.570C>A | |
2 | g.38071180A>C | CA346327702 | CYP1B1 | c.1174T>G (p.Ser392Ala) n.552T>G c.61T>G (p.Ser21Ala) n.569T>G | |
2 | g.38071180A>G | CA346327704 | CYP1B1 | c.1174T>C (p.Ser392Pro) n.552T>C c.61T>C (p.Ser21Pro) n.569T>C | |
2 | g.38071180A>T | CA346327703 | CYP1B1 | c.1174T>A (p.Ser392Thr) n.552T>A c.61T>A (p.Ser21Thr) n.569T>A | |
2 | g.38071181G>A | CA1619845 | CYP1B1 | c.1173C>T (p.Phe391=) n.551C>T c.60C>T (p.Phe20=) n.568C>T | dbSNP ExAC gnomAD v2 |
2 | g.38071181G>C | CA346327705 | CYP1B1 | c.1173C>G (p.Phe391Leu) n.551C>G c.60C>G (p.Phe20Leu) n.568C>G | |
2 | g.38071181G= | CA1245626163 | CYP1B1 | c.1173C= (p.Phe391=) n.551C= c.60C= (p.Phe20=) n.568C= | |
2 | g.38071181G>T | CA346327706 | CYP1B1 | c.1173C>A (p.Phe391Leu) n.551C>A c.60C>A (p.Phe20Leu) n.568C>A | |
2 | g.38071182A>C | CA346327707 | CYP1B1 | c.1172T>G (p.Phe391Cys) n.550T>G c.59T>G (p.Phe20Cys) n.567T>G | |
2 | g.38071182A>G | CA346327708 | CYP1B1 | c.1172T>C (p.Phe391Ser) n.550T>C c.59T>C (p.Phe20Ser) n.567T>C | gnomAD v4 |
2 | g.38071182A>T | CA346327709 | CYP1B1 | c.1172T>A (p.Phe391Tyr) n.550T>A c.59T>A (p.Phe20Tyr) n.567T>A | |
2 | g.38071183A>C | CA346327710 | CYP1B1 | c.1171T>G (p.Phe391Val) n.549T>G c.58T>G (p.Phe20Val) n.566T>G | |
2 | g.38071183A>G | CA346327711 | CYP1B1 | c.1171T>C (p.Phe391Leu) n.549T>C c.58T>C (p.Phe20Leu) n.566T>C | gnomAD v4 |
2 | g.38071183A>T | CA346327712 | CYP1B1 | c.1171T>A (p.Phe391Ile) n.549T>A c.58T>A (p.Phe20Ile) n.566T>A | |
2 | g.38071184G>A | CA425690746 | CYP1B1 | c.1170C>T (p.Arg390=) n.548C>T c.57C>T (p.Arg19=) n.565C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071184G>C | CA425690747 | CYP1B1 | c.1170C>G (p.Arg390=) n.548C>G c.57C>G (p.Arg19=) n.565C>G | |
2 | g.38071184G= | CA1245626164 | CYP1B1 | c.1170C= (p.Arg390=) n.548C= c.57C= (p.Arg19=) n.565C= | |
2 | g.38071184G>T | CA425690748 | CYP1B1 | c.1170C>A (p.Arg390=) n.548C>A c.57C>A (p.Arg19=) n.565C>A | |
2 | g.38071185C>A | CA346327713 | CYP1B1 | c.1169G>T (p.Arg390Leu) n.547G>T c.56G>T (p.Arg19Leu) n.564G>T | |
2 | g.38071185C= | CA1245626165 | CYP1B1 | c.1169G= (p.Arg390=) n.547G= c.56G= (p.Arg19=) n.564G= | |
2 | g.38071185C>G | CA346327714 | CYP1B1 | c.1169G>C (p.Arg390Pro) n.547G>C c.56G>C (p.Arg19Pro) n.564G>C | |
2 | g.38071185C>T | CA1619846 | CYP1B1 | c.1169G>A (p.Arg390His) n.547G>A c.56G>A (p.Arg19His) n.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071186G>A | CA1619847 | CYP1B1 | c.1168C>T (p.Arg390Cys) n.546C>T c.55C>T (p.Arg19Cys) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071186G>C | CA346327715 | CYP1B1 | c.1168C>G (p.Arg390Gly) n.546C>G c.55C>G (p.Arg19Gly) n.563C>G | gnomAD v4 COSMIC |
2 | g.38071186G= | CA1245626166 | CYP1B1 | c.1168C= (p.Arg390=) n.546C= c.55C= (p.Arg19=) n.563C= | |
2 | g.38071186G>T | CA1619848 | CYP1B1 | c.1168C>A (p.Arg390Ser) n.546C>A c.55C>A (p.Arg19Ser) n.563C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071187C>A | CA346327716 | CYP1B1 | c.1167G>T (p.Met389Ile) n.545G>T c.54G>T (p.Met18Ile) n.562G>T | |
2 | g.38071187C= | CA1245626167 | CYP1B1 | c.1167G= (p.Met389=) n.545G= c.54G= (p.Met18=) n.562G= | |
2 | g.38071187C>G | CA346327717 | CYP1B1 | c.1167G>C (p.Met389Ile) n.545G>C c.54G>C (p.Met18Ile) n.562G>C | |
2 | g.38071187C>T | CA45506579 | CYP1B1 | c.1167G>A (p.Met389Ile) n.545G>A c.54G>A (p.Met18Ile) n.562G>A | dbSNP gnomAD v2 gnomAD v4 |