Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38070969dupCA1619792CYP1B1c.1390dup (p.Ser464PhefsTer14)
c.277dup (p.Ser93PhefsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38070968A=CA1245626045CYP1B1c.1386T= (p.Ile462=)
c.273T= (p.Ile91=)
2g.38070968A>CCA346327271CYP1B1c.1386T>G (p.Ile462Met)
c.273T>G (p.Ile91Met)
2g.38070968A>GCA425864333CYP1B1c.1386T>C (p.Ile462=)
c.273T>C (p.Ile91=)
 dbSNP
2g.38070968A>TCA425864335CYP1B1c.1386T>A (p.Ile462=)
c.273T>A (p.Ile91=)
2g.38070969A=CA1245626046CYP1B1c.1385T= (p.Ile462=)
c.272T= (p.Ile91=)
2g.38070969A>CCA346327272CYP1B1c.1385T>G (p.Ile462Ser)
c.272T>G (p.Ile91Ser)
2g.38070969A>GCA1619793CYP1B1c.1385T>C (p.Ile462Thr)
c.272T>C (p.Ile91Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.38070969A>TCA346327273CYP1B1c.1385T>A (p.Ile462Asn)
c.272T>A (p.Ile91Asn)
2g.38070970T>ACA346327274CYP1B1c.1384A>T (p.Ile462Phe)
c.271A>T (p.Ile91Phe)
2g.38070970T>CCA346327275CYP1B1c.1384A>G (p.Ile462Val)
c.271A>G (p.Ile91Val)
2g.38070970T>GCA346327276CYP1B1c.1384A>C (p.Ile462Leu)
c.271A>C (p.Ile91Leu)
2g.38070971C>ACA346327277CYP1B1c.1383G>T (p.Met461Ile)
c.270G>T (p.Met90Ile)
2g.38070971C=CA1245626047CYP1B1c.1383G= (p.Met461=)
c.270G= (p.Met90=)
2g.38070971C>GCA1619794CYP1B1c.1383G>C (p.Met461Ile)
c.270G>C (p.Met90Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.38070971C>TCA346327278CYP1B1c.1383G>A (p.Met461Ile)
c.270G>A (p.Met90Ile)
2g.38070972A=CA1245626048CYP1B1c.1382T= (p.Met461=)
c.269T= (p.Met90=)
2g.38070972A>CCA346327279CYP1B1c.1382T>G (p.Met461Arg)
c.269T>G (p.Met90Arg)
2g.38070972A>GCA1619795CYP1B1c.1382T>C (p.Met461Thr)
c.269T>C (p.Met90Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.38070972A>TCA346327280CYP1B1c.1382T>A (p.Met461Lys)
c.269T>A (p.Met90Lys)
2g.38070973T>ACA346327281CYP1B1c.1381A>T (p.Met461Leu)
c.268A>T (p.Met90Leu)
2g.38070973T>CCA45506039CYP1B1c.1381A>G (p.Met461Val)
c.268A>G (p.Met90Val)
 dbSNP gnomAD v2 gnomAD v4
2g.38070973T>GCA346327282CYP1B1c.1381A>C (p.Met461Leu)
c.268A>C (p.Met90Leu)
2g.38070973T=CA1245626049CYP1B1c.1381A= (p.Met461=)
c.268A= (p.Met90=)
2g.38070974C>ACA425864337CYP1B1c.1380G>T (p.Val460=)
c.267G>T (p.Val89=)
2g.38070974C=CA1245626050CYP1B1c.1380G= (p.Val460=)
c.267G= (p.Val89=)
2g.38070974C>GCA425864338CYP1B1c.1380G>C (p.Val460=)
c.267G>C (p.Val89=)
 gnomAD v4
2g.38070974C>TCA1619796CYP1B1c.1380G>A (p.Val460=)
c.267G>A (p.Val89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38070975A>CCA346327283CYP1B1c.1379T>G (p.Val460Gly)
c.266T>G (p.Val89Gly)
2g.38070975A>GCA346327284CYP1B1c.1379T>C (p.Val460Ala)
c.266T>C (p.Val89Ala)
2g.38070975A>TCA346327285CYP1B1c.1379T>A (p.Val460Glu)
c.266T>A (p.Val89Glu)
2g.38070976C>ACA346327288CYP1B1c.1378G>T (p.Val460Leu)
c.265G>T (p.Val89Leu)
 COSMIC
2g.38070976C>GCA346327287CYP1B1c.1378G>C (p.Val460Leu)
c.265G>C (p.Val89Leu)
2g.38070976C>TCA346327286CYP1B1c.1378G>A (p.Val460Met)
c.265G>A (p.Val89Met)
2g.38070978_38070979delCA2586969059CYP1B1c.1377_1378del (p.Arg459SerfsTer18)
c.264_265del (p.Arg88SerfsTer18)
 ClinVar gnomAD v4
2g.38070977T>ACA346327289CYP1B1c.1377A>T (p.Arg459Ser)
c.264A>T (p.Arg88Ser)
2g.38070977T>CCA1619797CYP1B1c.1377A>G (p.Arg459=)
c.264A>G (p.Arg88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38070977T>GCA346327290CYP1B1c.1377A>C (p.Arg459Ser)
c.264A>C (p.Arg88Ser)
2g.38070977T=CA1245626051CYP1B1c.1377A= (p.Arg459=)
c.264A= (p.Arg88=)
2g.38070978C>ACA346327291CYP1B1c.1376G>T (p.Arg459Ile)
c.263G>T (p.Arg88Ile)
2g.38070978C>GCA346327292CYP1B1c.1376G>C (p.Arg459Thr)
c.263G>C (p.Arg88Thr)
 gnomAD v4
2g.38070978C>TCA346327293CYP1B1c.1376G>A (p.Arg459Lys)
c.263G>A (p.Arg88Lys)
2g.38070978_38070982delinsTTTTTCAACAACA2586969060CYP1B1c.1372_1376delinsTTGTTGAAAAA (p.Ser458_Arg459delinsLeuLeuLysLys)
c.259_263delinsTTGTTGAAAAA (p.Ser87_Arg88delinsLeuLeuLysLys)
2g.38070979T>ACA346327294CYP1B1c.1375A>T (p.Arg459Ter)
c.262A>T (p.Arg88Ter)
2g.38070979T>CCA346327295CYP1B1c.1375A>G (p.Arg459Gly)
c.262A>G (p.Arg88Gly)
2g.38070979T>GCA425864339CYP1B1c.1375A>C (p.Arg459=)
c.262A>C (p.Arg88=)
2g.38070980G>ACA425864340CYP1B1c.1374C>T (p.Ser458=)
c.261C>T (p.Ser87=)
2g.38070980G>CCA346327296CYP1B1c.1374C>G (p.Ser458Arg)
c.261C>G (p.Ser87Arg)
2g.38070980G>TCA346327297CYP1B1c.1374C>A (p.Ser458Arg)
c.261C>A (p.Ser87Arg)
2g.38070981C>ACA1619798CYP1B1c.1373G>T (p.Ser458Ile)
c.260G>T (p.Ser87Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched