Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.92099724T>ACA368158431AKAP9,CYP51A1c.1352-14122A>T (n.1352-14122A>T)
c.10751T>A (p.Leu3584Ter)
c.10823T>A (p.Leu3608Ter)
c.3743T>A (p.Leu1248Ter)
n.99T>A
c.239T>A (p.Leu80Ter)
n.2829T>A
c.5396T>A (p.Leu1799Ter)
c.*1631T>A (n.*1631T>A)
c.10727T>A (p.Leu3576Ter)
n.10949T>A
c.10697T>A (p.Leu3566Ter)
c.10493T>A (p.Leu3498Ter)
n.12421T>A
c.10574T>A (p.Leu3525Ter)
c.10658T>A (p.Leu3553Ter)
c.4390T>A (n.4390T>A)
c.10610T>A (p.Leu3537Ter)
c.10790T>A (p.Leu3597Ter)
c.4511T>A (n.4511T>A)
c.10760T>A (p.Leu3587Ter)
c.4289T>A (p.Leu1430Ter)
n.2501T>A
n.551T>A
c.10898T>A (p.Leu3633Ter)
c.10922T>A (p.Leu3641Ter)
c.10862T>A (p.Leu3621Ter)
c.10859T>A (p.Leu3620Ter)
c.10844T>A (p.Leu3615Ter)
c.10883T>A (p.Leu3628Ter)
c.10802T>A (p.Leu3601Ter)
c.10757T>A (p.Leu3586Ter)
c.10787T>A (p.Leu3596Ter)
c.10763T>A (p.Leu3588Ter)
c.5411T>A (p.Leu1804Ter)
c.5372T>A (p.Leu1791Ter)
c.10886T>A (p.Leu3629Ter)
c.10847T>A (p.Leu3616Ter)
c.10832T>A (p.Leu3611Ter)
c.10793T>A (p.Leu3598Ter)
c.10745T>A (p.Leu3582Ter)
c.10514T>A (p.Leu3505Ter)
c.6551T>A (p.Leu2184Ter)
c.5435T>A (p.Leu1812Ter)
c.10649T>A (p.Leu3550Ter)
7g.92099724T>CCA368158432AKAP9,CYP51A1c.1352-14122A>G (n.1352-14122A>G)
c.10751T>C (p.Leu3584Ser)
c.10823T>C (p.Leu3608Ser)
c.3743T>C (p.Leu1248Ser)
n.99T>C
c.239T>C (p.Leu80Ser)
n.2829T>C
c.5396T>C (p.Leu1799Ser)
c.*1631T>C (n.*1631T>C)
c.10727T>C (p.Leu3576Ser)
n.10949T>C
c.10697T>C (p.Leu3566Ser)
c.10493T>C (p.Leu3498Ser)
n.12421T>C
c.10574T>C (p.Leu3525Ser)
c.10658T>C (p.Leu3553Ser)
c.4390T>C (n.4390T>C)
c.10610T>C (p.Leu3537Ser)
c.10790T>C (p.Leu3597Ser)
c.4511T>C (n.4511T>C)
c.10760T>C (p.Leu3587Ser)
c.4289T>C (p.Leu1430Ser)
n.2501T>C
n.551T>C
c.10898T>C (p.Leu3633Ser)
c.10922T>C (p.Leu3641Ser)
c.10862T>C (p.Leu3621Ser)
c.10859T>C (p.Leu3620Ser)
c.10844T>C (p.Leu3615Ser)
c.10883T>C (p.Leu3628Ser)
c.10802T>C (p.Leu3601Ser)
c.10757T>C (p.Leu3586Ser)
c.10787T>C (p.Leu3596Ser)
c.10763T>C (p.Leu3588Ser)
c.5411T>C (p.Leu1804Ser)
c.5372T>C (p.Leu1791Ser)
c.10886T>C (p.Leu3629Ser)
c.10847T>C (p.Leu3616Ser)
c.10832T>C (p.Leu3611Ser)
c.10793T>C (p.Leu3598Ser)
c.10745T>C (p.Leu3582Ser)
c.10514T>C (p.Leu3505Ser)
c.6551T>C (p.Leu2184Ser)
c.5435T>C (p.Leu1812Ser)
c.10649T>C (p.Leu3550Ser)
7g.92099724T>GCA368158435AKAP9,CYP51A1c.1352-14122A>C (n.1352-14122A>C)
c.10751T>G (p.Leu3584Trp)
c.10823T>G (p.Leu3608Trp)
c.3743T>G (p.Leu1248Trp)
n.99T>G
c.239T>G (p.Leu80Trp)
n.2829T>G
c.5396T>G (p.Leu1799Trp)
c.*1631T>G (n.*1631T>G)
c.10727T>G (p.Leu3576Trp)
n.10949T>G
c.10697T>G (p.Leu3566Trp)
c.10493T>G (p.Leu3498Trp)
n.12421T>G
c.10574T>G (p.Leu3525Trp)
c.10658T>G (p.Leu3553Trp)
c.4390T>G (n.4390T>G)
c.10610T>G (p.Leu3537Trp)
c.10790T>G (p.Leu3597Trp)
c.4511T>G (n.4511T>G)
c.10760T>G (p.Leu3587Trp)
c.4289T>G (p.Leu1430Trp)
n.2501T>G
n.551T>G
c.10898T>G (p.Leu3633Trp)
c.10922T>G (p.Leu3641Trp)
c.10862T>G (p.Leu3621Trp)
c.10859T>G (p.Leu3620Trp)
c.10844T>G (p.Leu3615Trp)
c.10883T>G (p.Leu3628Trp)
c.10802T>G (p.Leu3601Trp)
c.10757T>G (p.Leu3586Trp)
c.10787T>G (p.Leu3596Trp)
c.10763T>G (p.Leu3588Trp)
c.5411T>G (p.Leu1804Trp)
c.5372T>G (p.Leu1791Trp)
c.10886T>G (p.Leu3629Trp)
c.10847T>G (p.Leu3616Trp)
c.10832T>G (p.Leu3611Trp)
c.10793T>G (p.Leu3598Trp)
c.10745T>G (p.Leu3582Trp)
c.10514T>G (p.Leu3505Trp)
c.6551T>G (p.Leu2184Trp)
c.5435T>G (p.Leu1812Trp)
c.10649T>G (p.Leu3550Trp)
7g.92099725G>ACA456454121AKAP9,CYP51A1c.1352-14123C>T (n.1352-14123C>T)
c.10752G>A (p.Leu3584=)
c.10824G>A (p.Leu3608=)
c.3744G>A (p.Leu1248=)
n.100G>A
c.240G>A (p.Leu80=)
n.2830G>A
c.5397G>A (p.Leu1799=)
c.*1632G>A (n.*1632G>A)
c.10728G>A (p.Leu3576=)
n.10950G>A
c.10698G>A (p.Leu3566=)
c.10494G>A (p.Leu3498=)
n.12422G>A
c.10575G>A (p.Leu3525=)
c.10659G>A (p.Leu3553=)
c.4391G>A (n.4391G>A)
c.10611G>A (p.Leu3537=)
c.10791G>A (p.Leu3597=)
c.4512G>A (n.4512G>A)
c.10761G>A (p.Leu3587=)
c.4290G>A (p.Leu1430=)
n.2502G>A
n.552G>A
c.10899G>A (p.Leu3633=)
c.10923G>A (p.Leu3641=)
c.10863G>A (p.Leu3621=)
c.10860G>A (p.Leu3620=)
c.10845G>A (p.Leu3615=)
c.10884G>A (p.Leu3628=)
c.10803G>A (p.Leu3601=)
c.10758G>A (p.Leu3586=)
c.10788G>A (p.Leu3596=)
c.10764G>A (p.Leu3588=)
c.5412G>A (p.Leu1804=)
c.5373G>A (p.Leu1791=)
c.10887G>A (p.Leu3629=)
c.10848G>A (p.Leu3616=)
c.10833G>A (p.Leu3611=)
c.10794G>A (p.Leu3598=)
c.10746G>A (p.Leu3582=)
c.10515G>A (p.Leu3505=)
c.6552G>A (p.Leu2184=)
c.5436G>A (p.Leu1812=)
c.10650G>A (p.Leu3550=)
 dbSNP
7g.92099725G>CCA368158440AKAP9,CYP51A1c.1352-14123C>G (n.1352-14123C>G)
c.10752G>C (p.Leu3584Phe)
c.10824G>C (p.Leu3608Phe)
c.3744G>C (p.Leu1248Phe)
n.100G>C
c.240G>C (p.Leu80Phe)
n.2830G>C
c.5397G>C (p.Leu1799Phe)
c.*1632G>C (n.*1632G>C)
c.10728G>C (p.Leu3576Phe)
n.10950G>C
c.10698G>C (p.Leu3566Phe)
c.10494G>C (p.Leu3498Phe)
n.12422G>C
c.10575G>C (p.Leu3525Phe)
c.10659G>C (p.Leu3553Phe)
c.4391G>C (n.4391G>C)
c.10611G>C (p.Leu3537Phe)
c.10791G>C (p.Leu3597Phe)
c.4512G>C (n.4512G>C)
c.10761G>C (p.Leu3587Phe)
c.4290G>C (p.Leu1430Phe)
n.2502G>C
n.552G>C
c.10899G>C (p.Leu3633Phe)
c.10923G>C (p.Leu3641Phe)
c.10863G>C (p.Leu3621Phe)
c.10860G>C (p.Leu3620Phe)
c.10845G>C (p.Leu3615Phe)
c.10884G>C (p.Leu3628Phe)
c.10803G>C (p.Leu3601Phe)
c.10758G>C (p.Leu3586Phe)
c.10788G>C (p.Leu3596Phe)
c.10764G>C (p.Leu3588Phe)
c.5412G>C (p.Leu1804Phe)
c.5373G>C (p.Leu1791Phe)
c.10887G>C (p.Leu3629Phe)
c.10848G>C (p.Leu3616Phe)
c.10833G>C (p.Leu3611Phe)
c.10794G>C (p.Leu3598Phe)
c.10746G>C (p.Leu3582Phe)
c.10515G>C (p.Leu3505Phe)
c.6552G>C (p.Leu2184Phe)
c.5436G>C (p.Leu1812Phe)
c.10650G>C (p.Leu3550Phe)
7g.92099725G=CA1725766261AKAP9,CYP51A1c.1352-14123C= (n.1352-14123C=)
c.10752G= (p.Leu3584=)
c.10824G= (p.Leu3608=)
c.3744G= (p.Leu1248=)
n.100G=
c.240G= (p.Leu80=)
n.2830G=
c.5397G= (p.Leu1799=)
c.*1632G= (n.*1632G=)
c.10728G= (p.Leu3576=)
n.10950G=
c.10698G= (p.Leu3566=)
c.10494G= (p.Leu3498=)
n.12422G=
c.10575G= (p.Leu3525=)
c.10659G= (p.Leu3553=)
c.4391G= (n.4391G=)
c.10611G= (p.Leu3537=)
c.10791G= (p.Leu3597=)
c.4512G= (n.4512G=)
c.10761G= (p.Leu3587=)
c.4290G= (p.Leu1430=)
n.2502G=
n.552G=
c.10899G= (p.Leu3633=)
c.10923G= (p.Leu3641=)
c.10863G= (p.Leu3621=)
c.10860G= (p.Leu3620=)
c.10845G= (p.Leu3615=)
c.10884G= (p.Leu3628=)
c.10803G= (p.Leu3601=)
c.10758G= (p.Leu3586=)
c.10788G= (p.Leu3596=)
c.10764G= (p.Leu3588=)
c.5412G= (p.Leu1804=)
c.5373G= (p.Leu1791=)
c.10887G= (p.Leu3629=)
c.10848G= (p.Leu3616=)
c.10833G= (p.Leu3611=)
c.10794G= (p.Leu3598=)
c.10746G= (p.Leu3582=)
c.10515G= (p.Leu3505=)
c.6552G= (p.Leu2184=)
c.5436G= (p.Leu1812=)
c.10650G= (p.Leu3550=)
7g.92099725G>TCA368158442AKAP9,CYP51A1c.1352-14123C>A (n.1352-14123C>A)
c.10752G>T (p.Leu3584Phe)
c.10824G>T (p.Leu3608Phe)
c.3744G>T (p.Leu1248Phe)
n.100G>T
c.240G>T (p.Leu80Phe)
n.2830G>T
c.5397G>T (p.Leu1799Phe)
c.*1632G>T (n.*1632G>T)
c.10728G>T (p.Leu3576Phe)
n.10950G>T
c.10698G>T (p.Leu3566Phe)
c.10494G>T (p.Leu3498Phe)
n.12422G>T
c.10575G>T (p.Leu3525Phe)
c.10659G>T (p.Leu3553Phe)
c.4391G>T (n.4391G>T)
c.10611G>T (p.Leu3537Phe)
c.10791G>T (p.Leu3597Phe)
c.4512G>T (n.4512G>T)
c.10761G>T (p.Leu3587Phe)
c.4290G>T (p.Leu1430Phe)
n.2502G>T
n.552G>T
c.10899G>T (p.Leu3633Phe)
c.10923G>T (p.Leu3641Phe)
c.10863G>T (p.Leu3621Phe)
c.10860G>T (p.Leu3620Phe)
c.10845G>T (p.Leu3615Phe)
c.10884G>T (p.Leu3628Phe)
c.10803G>T (p.Leu3601Phe)
c.10758G>T (p.Leu3586Phe)
c.10788G>T (p.Leu3596Phe)
c.10764G>T (p.Leu3588Phe)
c.5412G>T (p.Leu1804Phe)
c.5373G>T (p.Leu1791Phe)
c.10887G>T (p.Leu3629Phe)
c.10848G>T (p.Leu3616Phe)
c.10833G>T (p.Leu3611Phe)
c.10794G>T (p.Leu3598Phe)
c.10746G>T (p.Leu3582Phe)
c.10515G>T (p.Leu3505Phe)
c.6552G>T (p.Leu2184Phe)
c.5436G>T (p.Leu1812Phe)
c.10650G>T (p.Leu3550Phe)
7g.92099726A>CCA368158444AKAP9,CYP51A1c.1352-14124T>G (n.1352-14124T>G)
c.10753A>C (p.Thr3585Pro)
c.10825A>C (p.Thr3609Pro)
c.3745A>C (p.Thr1249Pro)
n.101A>C
c.241A>C (p.Thr81Pro)
n.2831A>C
c.5398A>C (p.Thr1800Pro)
c.*1633A>C (n.*1633A>C)
c.10729A>C (p.Thr3577Pro)
n.10951A>C
c.10699A>C (p.Thr3567Pro)
c.10495A>C (p.Thr3499Pro)
n.12423A>C
c.10576A>C (p.Thr3526Pro)
c.10660A>C (p.Thr3554Pro)
c.4392A>C (n.4392A>C)
c.10612A>C (p.Thr3538Pro)
c.10792A>C (p.Thr3598Pro)
c.4513A>C (n.4513A>C)
c.10762A>C (p.Thr3588Pro)
c.4291A>C (p.Thr1431Pro)
n.2503A>C
n.553A>C
c.10900A>C (p.Thr3634Pro)
c.10924A>C (p.Thr3642Pro)
c.10864A>C (p.Thr3622Pro)
c.10861A>C (p.Thr3621Pro)
c.10846A>C (p.Thr3616Pro)
c.10885A>C (p.Thr3629Pro)
c.10804A>C (p.Thr3602Pro)
c.10759A>C (p.Thr3587Pro)
c.10789A>C (p.Thr3597Pro)
c.10765A>C (p.Thr3589Pro)
c.5413A>C (p.Thr1805Pro)
c.5374A>C (p.Thr1792Pro)
c.10888A>C (p.Thr3630Pro)
c.10849A>C (p.Thr3617Pro)
c.10834A>C (p.Thr3612Pro)
c.10795A>C (p.Thr3599Pro)
c.10747A>C (p.Thr3583Pro)
c.10516A>C (p.Thr3506Pro)
c.6553A>C (p.Thr2185Pro)
c.5437A>C (p.Thr1813Pro)
c.10651A>C (p.Thr3551Pro)
7g.92099726A>GCA368158451AKAP9,CYP51A1c.1352-14124T>C (n.1352-14124T>C)
c.10753A>G (p.Thr3585Ala)
c.10825A>G (p.Thr3609Ala)
c.3745A>G (p.Thr1249Ala)
n.101A>G
c.241A>G (p.Thr81Ala)
n.2831A>G
c.5398A>G (p.Thr1800Ala)
c.*1633A>G (n.*1633A>G)
c.10729A>G (p.Thr3577Ala)
n.10951A>G
c.10699A>G (p.Thr3567Ala)
c.10495A>G (p.Thr3499Ala)
n.12423A>G
c.10576A>G (p.Thr3526Ala)
c.10660A>G (p.Thr3554Ala)
c.4392A>G (n.4392A>G)
c.10612A>G (p.Thr3538Ala)
c.10792A>G (p.Thr3598Ala)
c.4513A>G (n.4513A>G)
c.10762A>G (p.Thr3588Ala)
c.4291A>G (p.Thr1431Ala)
n.2503A>G
n.553A>G
c.10900A>G (p.Thr3634Ala)
c.10924A>G (p.Thr3642Ala)
c.10864A>G (p.Thr3622Ala)
c.10861A>G (p.Thr3621Ala)
c.10846A>G (p.Thr3616Ala)
c.10885A>G (p.Thr3629Ala)
c.10804A>G (p.Thr3602Ala)
c.10759A>G (p.Thr3587Ala)
c.10789A>G (p.Thr3597Ala)
c.10765A>G (p.Thr3589Ala)
c.5413A>G (p.Thr1805Ala)
c.5374A>G (p.Thr1792Ala)
c.10888A>G (p.Thr3630Ala)
c.10849A>G (p.Thr3617Ala)
c.10834A>G (p.Thr3612Ala)
c.10795A>G (p.Thr3599Ala)
c.10747A>G (p.Thr3583Ala)
c.10516A>G (p.Thr3506Ala)
c.6553A>G (p.Thr2185Ala)
c.5437A>G (p.Thr1813Ala)
c.10651A>G (p.Thr3551Ala)
7g.92099726A>TCA368158454AKAP9,CYP51A1c.1352-14124T>A (n.1352-14124T>A)
c.10753A>T (p.Thr3585Ser)
c.10825A>T (p.Thr3609Ser)
c.3745A>T (p.Thr1249Ser)
n.101A>T
c.241A>T (p.Thr81Ser)
n.2831A>T
c.5398A>T (p.Thr1800Ser)
c.*1633A>T (n.*1633A>T)
c.10729A>T (p.Thr3577Ser)
n.10951A>T
c.10699A>T (p.Thr3567Ser)
c.10495A>T (p.Thr3499Ser)
n.12423A>T
c.10576A>T (p.Thr3526Ser)
c.10660A>T (p.Thr3554Ser)
c.4392A>T (n.4392A>T)
c.10612A>T (p.Thr3538Ser)
c.10792A>T (p.Thr3598Ser)
c.4513A>T (n.4513A>T)
c.10762A>T (p.Thr3588Ser)
c.4291A>T (p.Thr1431Ser)
n.2503A>T
n.553A>T
c.10900A>T (p.Thr3634Ser)
c.10924A>T (p.Thr3642Ser)
c.10864A>T (p.Thr3622Ser)
c.10861A>T (p.Thr3621Ser)
c.10846A>T (p.Thr3616Ser)
c.10885A>T (p.Thr3629Ser)
c.10804A>T (p.Thr3602Ser)
c.10759A>T (p.Thr3587Ser)
c.10789A>T (p.Thr3597Ser)
c.10765A>T (p.Thr3589Ser)
c.5413A>T (p.Thr1805Ser)
c.5374A>T (p.Thr1792Ser)
c.10888A>T (p.Thr3630Ser)
c.10849A>T (p.Thr3617Ser)
c.10834A>T (p.Thr3612Ser)
c.10795A>T (p.Thr3599Ser)
c.10747A>T (p.Thr3583Ser)
c.10516A>T (p.Thr3506Ser)
c.6553A>T (p.Thr2185Ser)
c.5437A>T (p.Thr1813Ser)
c.10651A>T (p.Thr3551Ser)
7g.92099727C>ACA368158456AKAP9,CYP51A1c.1352-14125G>T (n.1352-14125G>T)
c.10754C>A (p.Thr3585Asn)
c.10826C>A (p.Thr3609Asn)
c.3746C>A (p.Thr1249Asn)
n.102C>A
c.242C>A (p.Thr81Asn)
n.2832C>A
c.5399C>A (p.Thr1800Asn)
c.*1634C>A (n.*1634C>A)
c.10730C>A (p.Thr3577Asn)
n.10952C>A
c.10700C>A (p.Thr3567Asn)
c.10496C>A (p.Thr3499Asn)
n.12424C>A
c.10577C>A (p.Thr3526Asn)
c.10661C>A (p.Thr3554Asn)
c.4393C>A (n.4393C>A)
c.10613C>A (p.Thr3538Asn)
c.10793C>A (p.Thr3598Asn)
c.4514C>A (n.4514C>A)
c.10763C>A (p.Thr3588Asn)
c.4292C>A (p.Thr1431Asn)
n.2504C>A
n.554C>A
c.10901C>A (p.Thr3634Asn)
c.10925C>A (p.Thr3642Asn)
c.10865C>A (p.Thr3622Asn)
c.10862C>A (p.Thr3621Asn)
c.10847C>A (p.Thr3616Asn)
c.10886C>A (p.Thr3629Asn)
c.10805C>A (p.Thr3602Asn)
c.10760C>A (p.Thr3587Asn)
c.10790C>A (p.Thr3597Asn)
c.10766C>A (p.Thr3589Asn)
c.5414C>A (p.Thr1805Asn)
c.5375C>A (p.Thr1792Asn)
c.10889C>A (p.Thr3630Asn)
c.10850C>A (p.Thr3617Asn)
c.10835C>A (p.Thr3612Asn)
c.10796C>A (p.Thr3599Asn)
c.10748C>A (p.Thr3583Asn)
c.10517C>A (p.Thr3506Asn)
c.6554C>A (p.Thr2185Asn)
c.5438C>A (p.Thr1813Asn)
c.10652C>A (p.Thr3551Asn)
7g.92099727C>GCA368158464AKAP9,CYP51A1c.1352-14125G>C (n.1352-14125G>C)
c.10754C>G (p.Thr3585Ser)
c.10826C>G (p.Thr3609Ser)
c.3746C>G (p.Thr1249Ser)
n.102C>G
c.242C>G (p.Thr81Ser)
n.2832C>G
c.5399C>G (p.Thr1800Ser)
c.*1634C>G (n.*1634C>G)
c.10730C>G (p.Thr3577Ser)
n.10952C>G
c.10700C>G (p.Thr3567Ser)
c.10496C>G (p.Thr3499Ser)
n.12424C>G
c.10577C>G (p.Thr3526Ser)
c.10661C>G (p.Thr3554Ser)
c.4393C>G (n.4393C>G)
c.10613C>G (p.Thr3538Ser)
c.10793C>G (p.Thr3598Ser)
c.4514C>G (n.4514C>G)
c.10763C>G (p.Thr3588Ser)
c.4292C>G (p.Thr1431Ser)
n.2504C>G
n.554C>G
c.10901C>G (p.Thr3634Ser)
c.10925C>G (p.Thr3642Ser)
c.10865C>G (p.Thr3622Ser)
c.10862C>G (p.Thr3621Ser)
c.10847C>G (p.Thr3616Ser)
c.10886C>G (p.Thr3629Ser)
c.10805C>G (p.Thr3602Ser)
c.10760C>G (p.Thr3587Ser)
c.10790C>G (p.Thr3597Ser)
c.10766C>G (p.Thr3589Ser)
c.5414C>G (p.Thr1805Ser)
c.5375C>G (p.Thr1792Ser)
c.10889C>G (p.Thr3630Ser)
c.10850C>G (p.Thr3617Ser)
c.10835C>G (p.Thr3612Ser)
c.10796C>G (p.Thr3599Ser)
c.10748C>G (p.Thr3583Ser)
c.10517C>G (p.Thr3506Ser)
c.6554C>G (p.Thr2185Ser)
c.5438C>G (p.Thr1813Ser)
c.10652C>G (p.Thr3551Ser)
7g.92099727C>TCA368158459AKAP9,CYP51A1c.1352-14125G>A (n.1352-14125G>A)
c.10754C>T (p.Thr3585Ile)
c.10826C>T (p.Thr3609Ile)
c.3746C>T (p.Thr1249Ile)
n.102C>T
c.242C>T (p.Thr81Ile)
n.2832C>T
c.5399C>T (p.Thr1800Ile)
c.*1634C>T (n.*1634C>T)
c.10730C>T (p.Thr3577Ile)
n.10952C>T
c.10700C>T (p.Thr3567Ile)
c.10496C>T (p.Thr3499Ile)
n.12424C>T
c.10577C>T (p.Thr3526Ile)
c.10661C>T (p.Thr3554Ile)
c.4393C>T (n.4393C>T)
c.10613C>T (p.Thr3538Ile)
c.10793C>T (p.Thr3598Ile)
c.4514C>T (n.4514C>T)
c.10763C>T (p.Thr3588Ile)
c.4292C>T (p.Thr1431Ile)
n.2504C>T
n.554C>T
c.10901C>T (p.Thr3634Ile)
c.10925C>T (p.Thr3642Ile)
c.10865C>T (p.Thr3622Ile)
c.10862C>T (p.Thr3621Ile)
c.10847C>T (p.Thr3616Ile)
c.10886C>T (p.Thr3629Ile)
c.10805C>T (p.Thr3602Ile)
c.10760C>T (p.Thr3587Ile)
c.10790C>T (p.Thr3597Ile)
c.10766C>T (p.Thr3589Ile)
c.5414C>T (p.Thr1805Ile)
c.5375C>T (p.Thr1792Ile)
c.10889C>T (p.Thr3630Ile)
c.10850C>T (p.Thr3617Ile)
c.10835C>T (p.Thr3612Ile)
c.10796C>T (p.Thr3599Ile)
c.10748C>T (p.Thr3583Ile)
c.10517C>T (p.Thr3506Ile)
c.6554C>T (p.Thr2185Ile)
c.5438C>T (p.Thr1813Ile)
c.10652C>T (p.Thr3551Ile)
 COSMIC COSMIC
7g.92099728T>ACA456454126AKAP9,CYP51A1c.1352-14126A>T (n.1352-14126A>T)
c.10755T>A (p.Thr3585=)
c.10827T>A (p.Thr3609=)
c.3747T>A (p.Thr1249=)
n.103T>A
c.243T>A (p.Thr81=)
n.2833T>A
c.5400T>A (p.Thr1800=)
c.*1635T>A (n.*1635T>A)
c.10731T>A (p.Thr3577=)
n.10953T>A
c.10701T>A (p.Thr3567=)
c.10497T>A (p.Thr3499=)
n.12425T>A
c.10578T>A (p.Thr3526=)
c.10662T>A (p.Thr3554=)
c.4394T>A (n.4394T>A)
c.10614T>A (p.Thr3538=)
c.10794T>A (p.Thr3598=)
c.4515T>A (n.4515T>A)
c.10764T>A (p.Thr3588=)
c.4293T>A (p.Thr1431=)
n.2505T>A
n.555T>A
c.10902T>A (p.Thr3634=)
c.10926T>A (p.Thr3642=)
c.10866T>A (p.Thr3622=)
c.10863T>A (p.Thr3621=)
c.10848T>A (p.Thr3616=)
c.10887T>A (p.Thr3629=)
c.10806T>A (p.Thr3602=)
c.10761T>A (p.Thr3587=)
c.10791T>A (p.Thr3597=)
c.10767T>A (p.Thr3589=)
c.5415T>A (p.Thr1805=)
c.5376T>A (p.Thr1792=)
c.10890T>A (p.Thr3630=)
c.10851T>A (p.Thr3617=)
c.10836T>A (p.Thr3612=)
c.10797T>A (p.Thr3599=)
c.10749T>A (p.Thr3583=)
c.10518T>A (p.Thr3506=)
c.6555T>A (p.Thr2185=)
c.5439T>A (p.Thr1813=)
c.10653T>A (p.Thr3551=)
7g.92099728T>CCA456454125AKAP9,CYP51A1c.1352-14126A>G (n.1352-14126A>G)
c.10755T>C (p.Thr3585=)
c.10827T>C (p.Thr3609=)
c.3747T>C (p.Thr1249=)
n.103T>C
c.243T>C (p.Thr81=)
n.2833T>C
c.5400T>C (p.Thr1800=)
c.*1635T>C (n.*1635T>C)
c.10731T>C (p.Thr3577=)
n.10953T>C
c.10701T>C (p.Thr3567=)
c.10497T>C (p.Thr3499=)
n.12425T>C
c.10578T>C (p.Thr3526=)
c.10662T>C (p.Thr3554=)
c.4394T>C (n.4394T>C)
c.10614T>C (p.Thr3538=)
c.10794T>C (p.Thr3598=)
c.4515T>C (n.4515T>C)
c.10764T>C (p.Thr3588=)
c.4293T>C (p.Thr1431=)
n.2505T>C
n.555T>C
c.10902T>C (p.Thr3634=)
c.10926T>C (p.Thr3642=)
c.10866T>C (p.Thr3622=)
c.10863T>C (p.Thr3621=)
c.10848T>C (p.Thr3616=)
c.10887T>C (p.Thr3629=)
c.10806T>C (p.Thr3602=)
c.10761T>C (p.Thr3587=)
c.10791T>C (p.Thr3597=)
c.10767T>C (p.Thr3589=)
c.5415T>C (p.Thr1805=)
c.5376T>C (p.Thr1792=)
c.10890T>C (p.Thr3630=)
c.10851T>C (p.Thr3617=)
c.10836T>C (p.Thr3612=)
c.10797T>C (p.Thr3599=)
c.10749T>C (p.Thr3583=)
c.10518T>C (p.Thr3506=)
c.6555T>C (p.Thr2185=)
c.5439T>C (p.Thr1813=)
c.10653T>C (p.Thr3551=)
7g.92099728T>GCA456454124AKAP9,CYP51A1c.1352-14126A>C (n.1352-14126A>C)
c.10755T>G (p.Thr3585=)
c.10827T>G (p.Thr3609=)
c.3747T>G (p.Thr1249=)
n.103T>G
c.243T>G (p.Thr81=)
n.2833T>G
c.5400T>G (p.Thr1800=)
c.*1635T>G (n.*1635T>G)
c.10731T>G (p.Thr3577=)
n.10953T>G
c.10701T>G (p.Thr3567=)
c.10497T>G (p.Thr3499=)
n.12425T>G
c.10578T>G (p.Thr3526=)
c.10662T>G (p.Thr3554=)
c.4394T>G (n.4394T>G)
c.10614T>G (p.Thr3538=)
c.10794T>G (p.Thr3598=)
c.4515T>G (n.4515T>G)
c.10764T>G (p.Thr3588=)
c.4293T>G (p.Thr1431=)
n.2505T>G
n.555T>G
c.10902T>G (p.Thr3634=)
c.10926T>G (p.Thr3642=)
c.10866T>G (p.Thr3622=)
c.10863T>G (p.Thr3621=)
c.10848T>G (p.Thr3616=)
c.10887T>G (p.Thr3629=)
c.10806T>G (p.Thr3602=)
c.10761T>G (p.Thr3587=)
c.10791T>G (p.Thr3597=)
c.10767T>G (p.Thr3589=)
c.5415T>G (p.Thr1805=)
c.5376T>G (p.Thr1792=)
c.10890T>G (p.Thr3630=)
c.10851T>G (p.Thr3617=)
c.10836T>G (p.Thr3612=)
c.10797T>G (p.Thr3599=)
c.10749T>G (p.Thr3583=)
c.10518T>G (p.Thr3506=)
c.6555T>G (p.Thr2185=)
c.5439T>G (p.Thr1813=)
c.10653T>G (p.Thr3551=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.92099728T=CA1725766268AKAP9,CYP51A1c.1352-14126A= (n.1352-14126A=)
c.10755T= (p.Thr3585=)
c.10827T= (p.Thr3609=)
c.3747T= (p.Thr1249=)
n.103T=
c.243T= (p.Thr81=)
n.2833T=
c.5400T= (p.Thr1800=)
c.*1635T= (n.*1635T=)
c.10731T= (p.Thr3577=)
n.10953T=
c.10701T= (p.Thr3567=)
c.10497T= (p.Thr3499=)
n.12425T=
c.10578T= (p.Thr3526=)
c.10662T= (p.Thr3554=)
c.4394T= (n.4394T=)
c.10614T= (p.Thr3538=)
c.10794T= (p.Thr3598=)
c.4515T= (n.4515T=)
c.10764T= (p.Thr3588=)
c.4293T= (p.Thr1431=)
n.2505T=
n.555T=
c.10902T= (p.Thr3634=)
c.10926T= (p.Thr3642=)
c.10866T= (p.Thr3622=)
c.10863T= (p.Thr3621=)
c.10848T= (p.Thr3616=)
c.10887T= (p.Thr3629=)
c.10806T= (p.Thr3602=)
c.10761T= (p.Thr3587=)
c.10791T= (p.Thr3597=)
c.10767T= (p.Thr3589=)
c.5415T= (p.Thr1805=)
c.5376T= (p.Thr1792=)
c.10890T= (p.Thr3630=)
c.10851T= (p.Thr3617=)
c.10836T= (p.Thr3612=)
c.10797T= (p.Thr3599=)
c.10749T= (p.Thr3583=)
c.10518T= (p.Thr3506=)
c.6555T= (p.Thr2185=)
c.5439T= (p.Thr1813=)
c.10653T= (p.Thr3551=)
7g.92099729G>ACA368158467AKAP9,CYP51A1c.1352-14127C>T (n.1352-14127C>T)
c.10756G>A (p.Glu3586Lys)
c.10828G>A (p.Glu3610Lys)
c.3748G>A (p.Glu1250Lys)
n.104G>A
c.244G>A (p.Glu82Lys)
n.2834G>A
c.5401G>A (p.Glu1801Lys)
c.*1636G>A (n.*1636G>A)
c.10732G>A (p.Glu3578Lys)
n.10954G>A
c.10702G>A (p.Glu3568Lys)
c.10498G>A (p.Glu3500Lys)
n.12426G>A
c.10579G>A (p.Glu3527Lys)
c.10663G>A (p.Glu3555Lys)
c.4395G>A (n.4395G>A)
c.10615G>A (p.Glu3539Lys)
c.10795G>A (p.Glu3599Lys)
c.4516G>A (n.4516G>A)
c.10765G>A (p.Glu3589Lys)
c.4294G>A (p.Glu1432Lys)
n.2506G>A
n.556G>A
c.10903G>A (p.Glu3635Lys)
c.10927G>A (p.Glu3643Lys)
c.10867G>A (p.Glu3623Lys)
c.10864G>A (p.Glu3622Lys)
c.10849G>A (p.Glu3617Lys)
c.10888G>A (p.Glu3630Lys)
c.10807G>A (p.Glu3603Lys)
c.10762G>A (p.Glu3588Lys)
c.10792G>A (p.Glu3598Lys)
c.10768G>A (p.Glu3590Lys)
c.5416G>A (p.Glu1806Lys)
c.5377G>A (p.Glu1793Lys)
c.10891G>A (p.Glu3631Lys)
c.10852G>A (p.Glu3618Lys)
c.10837G>A (p.Glu3613Lys)
c.10798G>A (p.Glu3600Lys)
c.10750G>A (p.Glu3584Lys)
c.10519G>A (p.Glu3507Lys)
c.6556G>A (p.Glu2186Lys)
c.5440G>A (p.Glu1814Lys)
c.10654G>A (p.Glu3552Lys)
7g.92099729G>CCA368158472AKAP9,CYP51A1c.1352-14127C>G (n.1352-14127C>G)
c.10756G>C (p.Glu3586Gln)
c.10828G>C (p.Glu3610Gln)
c.3748G>C (p.Glu1250Gln)
n.104G>C
c.244G>C (p.Glu82Gln)
n.2834G>C
c.5401G>C (p.Glu1801Gln)
c.*1636G>C (n.*1636G>C)
c.10732G>C (p.Glu3578Gln)
n.10954G>C
c.10702G>C (p.Glu3568Gln)
c.10498G>C (p.Glu3500Gln)
n.12426G>C
c.10579G>C (p.Glu3527Gln)
c.10663G>C (p.Glu3555Gln)
c.4395G>C (n.4395G>C)
c.10615G>C (p.Glu3539Gln)
c.10795G>C (p.Glu3599Gln)
c.4516G>C (n.4516G>C)
c.10765G>C (p.Glu3589Gln)
c.4294G>C (p.Glu1432Gln)
n.2506G>C
n.556G>C
c.10903G>C (p.Glu3635Gln)
c.10927G>C (p.Glu3643Gln)
c.10867G>C (p.Glu3623Gln)
c.10864G>C (p.Glu3622Gln)
c.10849G>C (p.Glu3617Gln)
c.10888G>C (p.Glu3630Gln)
c.10807G>C (p.Glu3603Gln)
c.10762G>C (p.Glu3588Gln)
c.10792G>C (p.Glu3598Gln)
c.10768G>C (p.Glu3590Gln)
c.5416G>C (p.Glu1806Gln)
c.5377G>C (p.Glu1793Gln)
c.10891G>C (p.Glu3631Gln)
c.10852G>C (p.Glu3618Gln)
c.10837G>C (p.Glu3613Gln)
c.10798G>C (p.Glu3600Gln)
c.10750G>C (p.Glu3584Gln)
c.10519G>C (p.Glu3507Gln)
c.6556G>C (p.Glu2186Gln)
c.5440G>C (p.Glu1814Gln)
c.10654G>C (p.Glu3552Gln)
7g.92099729G>TCA368158470AKAP9,CYP51A1c.1352-14127C>A (n.1352-14127C>A)
c.10756G>T (p.Glu3586Ter)
c.10828G>T (p.Glu3610Ter)
c.3748G>T (p.Glu1250Ter)
n.104G>T
c.244G>T (p.Glu82Ter)
n.2834G>T
c.5401G>T (p.Glu1801Ter)
c.*1636G>T (n.*1636G>T)
c.10732G>T (p.Glu3578Ter)
n.10954G>T
c.10702G>T (p.Glu3568Ter)
c.10498G>T (p.Glu3500Ter)
n.12426G>T
c.10579G>T (p.Glu3527Ter)
c.10663G>T (p.Glu3555Ter)
c.4395G>T (n.4395G>T)
c.10615G>T (p.Glu3539Ter)
c.10795G>T (p.Glu3599Ter)
c.4516G>T (n.4516G>T)
c.10765G>T (p.Glu3589Ter)
c.4294G>T (p.Glu1432Ter)
n.2506G>T
n.556G>T
c.10903G>T (p.Glu3635Ter)
c.10927G>T (p.Glu3643Ter)
c.10867G>T (p.Glu3623Ter)
c.10864G>T (p.Glu3622Ter)
c.10849G>T (p.Glu3617Ter)
c.10888G>T (p.Glu3630Ter)
c.10807G>T (p.Glu3603Ter)
c.10762G>T (p.Glu3588Ter)
c.10792G>T (p.Glu3598Ter)
c.10768G>T (p.Glu3590Ter)
c.5416G>T (p.Glu1806Ter)
c.5377G>T (p.Glu1793Ter)
c.10891G>T (p.Glu3631Ter)
c.10852G>T (p.Glu3618Ter)
c.10837G>T (p.Glu3613Ter)
c.10798G>T (p.Glu3600Ter)
c.10750G>T (p.Glu3584Ter)
c.10519G>T (p.Glu3507Ter)
c.6556G>T (p.Glu2186Ter)
c.5440G>T (p.Glu1814Ter)
c.10654G>T (p.Glu3552Ter)
7g.92099730A>CCA368158476AKAP9,CYP51A1c.1352-14128T>G (n.1352-14128T>G)
c.10757A>C (p.Glu3586Ala)
c.10829A>C (p.Glu3610Ala)
c.3749A>C (p.Glu1250Ala)
n.105A>C
c.245A>C (p.Glu82Ala)
n.2835A>C
c.5402A>C (p.Glu1801Ala)
c.*1637A>C (n.*1637A>C)
c.10733A>C (p.Glu3578Ala)
n.10955A>C
c.10703A>C (p.Glu3568Ala)
c.10499A>C (p.Glu3500Ala)
n.12427A>C
c.10580A>C (p.Glu3527Ala)
c.10664A>C (p.Glu3555Ala)
c.4396A>C (n.4396A>C)
c.10616A>C (p.Glu3539Ala)
c.10796A>C (p.Glu3599Ala)
c.4517A>C (n.4517A>C)
c.10766A>C (p.Glu3589Ala)
c.4295A>C (p.Glu1432Ala)
n.2507A>C
n.557A>C
c.10904A>C (p.Glu3635Ala)
c.10928A>C (p.Glu3643Ala)
c.10868A>C (p.Glu3623Ala)
c.10865A>C (p.Glu3622Ala)
c.10850A>C (p.Glu3617Ala)
c.10889A>C (p.Glu3630Ala)
c.10808A>C (p.Glu3603Ala)
c.10763A>C (p.Glu3588Ala)
c.10793A>C (p.Glu3598Ala)
c.10769A>C (p.Glu3590Ala)
c.5417A>C (p.Glu1806Ala)
c.5378A>C (p.Glu1793Ala)
c.10892A>C (p.Glu3631Ala)
c.10853A>C (p.Glu3618Ala)
c.10838A>C (p.Glu3613Ala)
c.10799A>C (p.Glu3600Ala)
c.10751A>C (p.Glu3584Ala)
c.10520A>C (p.Glu3507Ala)
c.6557A>C (p.Glu2186Ala)
c.5441A>C (p.Glu1814Ala)
c.10655A>C (p.Glu3552Ala)
7g.92099730A>GCA368158478AKAP9,CYP51A1c.1352-14128T>C (n.1352-14128T>C)
c.10757A>G (p.Glu3586Gly)
c.10829A>G (p.Glu3610Gly)
c.3749A>G (p.Glu1250Gly)
n.105A>G
c.245A>G (p.Glu82Gly)
n.2835A>G
c.5402A>G (p.Glu1801Gly)
c.*1637A>G (n.*1637A>G)
c.10733A>G (p.Glu3578Gly)
n.10955A>G
c.10703A>G (p.Glu3568Gly)
c.10499A>G (p.Glu3500Gly)
n.12427A>G
c.10580A>G (p.Glu3527Gly)
c.10664A>G (p.Glu3555Gly)
c.4396A>G (n.4396A>G)
c.10616A>G (p.Glu3539Gly)
c.10796A>G (p.Glu3599Gly)
c.4517A>G (n.4517A>G)
c.10766A>G (p.Glu3589Gly)
c.4295A>G (p.Glu1432Gly)
n.2507A>G
n.557A>G
c.10904A>G (p.Glu3635Gly)
c.10928A>G (p.Glu3643Gly)
c.10868A>G (p.Glu3623Gly)
c.10865A>G (p.Glu3622Gly)
c.10850A>G (p.Glu3617Gly)
c.10889A>G (p.Glu3630Gly)
c.10808A>G (p.Glu3603Gly)
c.10763A>G (p.Glu3588Gly)
c.10793A>G (p.Glu3598Gly)
c.10769A>G (p.Glu3590Gly)
c.5417A>G (p.Glu1806Gly)
c.5378A>G (p.Glu1793Gly)
c.10892A>G (p.Glu3631Gly)
c.10853A>G (p.Glu3618Gly)
c.10838A>G (p.Glu3613Gly)
c.10799A>G (p.Glu3600Gly)
c.10751A>G (p.Glu3584Gly)
c.10520A>G (p.Glu3507Gly)
c.6557A>G (p.Glu2186Gly)
c.5441A>G (p.Glu1814Gly)
c.10655A>G (p.Glu3552Gly)
7g.92099730A>TCA368158479AKAP9,CYP51A1c.1352-14128T>A (n.1352-14128T>A)
c.10757A>T (p.Glu3586Val)
c.10829A>T (p.Glu3610Val)
c.3749A>T (p.Glu1250Val)
n.105A>T
c.245A>T (p.Glu82Val)
n.2835A>T
c.5402A>T (p.Glu1801Val)
c.*1637A>T (n.*1637A>T)
c.10733A>T (p.Glu3578Val)
n.10955A>T
c.10703A>T (p.Glu3568Val)
c.10499A>T (p.Glu3500Val)
n.12427A>T
c.10580A>T (p.Glu3527Val)
c.10664A>T (p.Glu3555Val)
c.4396A>T (n.4396A>T)
c.10616A>T (p.Glu3539Val)
c.10796A>T (p.Glu3599Val)
c.4517A>T (n.4517A>T)
c.10766A>T (p.Glu3589Val)
c.4295A>T (p.Glu1432Val)
n.2507A>T
n.557A>T
c.10904A>T (p.Glu3635Val)
c.10928A>T (p.Glu3643Val)
c.10868A>T (p.Glu3623Val)
c.10865A>T (p.Glu3622Val)
c.10850A>T (p.Glu3617Val)
c.10889A>T (p.Glu3630Val)
c.10808A>T (p.Glu3603Val)
c.10763A>T (p.Glu3588Val)
c.10793A>T (p.Glu3598Val)
c.10769A>T (p.Glu3590Val)
c.5417A>T (p.Glu1806Val)
c.5378A>T (p.Glu1793Val)
c.10892A>T (p.Glu3631Val)
c.10853A>T (p.Glu3618Val)
c.10838A>T (p.Glu3613Val)
c.10799A>T (p.Glu3600Val)
c.10751A>T (p.Glu3584Val)
c.10520A>T (p.Glu3507Val)
c.6557A>T (p.Glu2186Val)
c.5441A>T (p.Glu1814Val)
c.10655A>T (p.Glu3552Val)
7g.92099731A>CCA368158482AKAP9,CYP51A1c.1352-14129T>G (n.1352-14129T>G)
c.10758A>C (p.Glu3586Asp)
c.10830A>C (p.Glu3610Asp)
c.3750A>C (p.Glu1250Asp)
n.106A>C
c.246A>C (p.Glu82Asp)
n.2836A>C
c.5403A>C (p.Glu1801Asp)
c.*1638A>C (n.*1638A>C)
c.10734A>C (p.Glu3578Asp)
n.10956A>C
c.10704A>C (p.Glu3568Asp)
c.10500A>C (p.Glu3500Asp)
n.12428A>C
c.10581A>C (p.Glu3527Asp)
c.10665A>C (p.Glu3555Asp)
c.4397A>C (n.4397A>C)
c.10617A>C (p.Glu3539Asp)
c.10797A>C (p.Glu3599Asp)
c.4518A>C (n.4518A>C)
c.10767A>C (p.Glu3589Asp)
c.4296A>C (p.Glu1432Asp)
n.2508A>C
n.558A>C
c.10905A>C (p.Glu3635Asp)
c.10929A>C (p.Glu3643Asp)
c.10869A>C (p.Glu3623Asp)
c.10866A>C (p.Glu3622Asp)
c.10851A>C (p.Glu3617Asp)
c.10890A>C (p.Glu3630Asp)
c.10809A>C (p.Glu3603Asp)
c.10764A>C (p.Glu3588Asp)
c.10794A>C (p.Glu3598Asp)
c.10770A>C (p.Glu3590Asp)
c.5418A>C (p.Glu1806Asp)
c.5379A>C (p.Glu1793Asp)
c.10893A>C (p.Glu3631Asp)
c.10854A>C (p.Glu3618Asp)
c.10839A>C (p.Glu3613Asp)
c.10800A>C (p.Glu3600Asp)
c.10752A>C (p.Glu3584Asp)
c.10521A>C (p.Glu3507Asp)
c.6558A>C (p.Glu2186Asp)
c.5442A>C (p.Glu1814Asp)
c.10656A>C (p.Glu3552Asp)
7g.92099731A>GCA456454130AKAP9,CYP51A1c.1352-14129T>C (n.1352-14129T>C)
c.10758A>G (p.Glu3586=)
c.10830A>G (p.Glu3610=)
c.3750A>G (p.Glu1250=)
n.106A>G
c.246A>G (p.Glu82=)
n.2836A>G
c.5403A>G (p.Glu1801=)
c.*1638A>G (n.*1638A>G)
c.10734A>G (p.Glu3578=)
n.10956A>G
c.10704A>G (p.Glu3568=)
c.10500A>G (p.Glu3500=)
n.12428A>G
c.10581A>G (p.Glu3527=)
c.10665A>G (p.Glu3555=)
c.4397A>G (n.4397A>G)
c.10617A>G (p.Glu3539=)
c.10797A>G (p.Glu3599=)
c.4518A>G (n.4518A>G)
c.10767A>G (p.Glu3589=)
c.4296A>G (p.Glu1432=)
n.2508A>G
n.558A>G
c.10905A>G (p.Glu3635=)
c.10929A>G (p.Glu3643=)
c.10869A>G (p.Glu3623=)
c.10866A>G (p.Glu3622=)
c.10851A>G (p.Glu3617=)
c.10890A>G (p.Glu3630=)
c.10809A>G (p.Glu3603=)
c.10764A>G (p.Glu3588=)
c.10794A>G (p.Glu3598=)
c.10770A>G (p.Glu3590=)
c.5418A>G (p.Glu1806=)
c.5379A>G (p.Glu1793=)
c.10893A>G (p.Glu3631=)
c.10854A>G (p.Glu3618=)
c.10839A>G (p.Glu3613=)
c.10800A>G (p.Glu3600=)
c.10752A>G (p.Glu3584=)
c.10521A>G (p.Glu3507=)
c.6558A>G (p.Glu2186=)
c.5442A>G (p.Glu1814=)
c.10656A>G (p.Glu3552=)
7g.92099731A>TCA368158483AKAP9,CYP51A1c.1352-14129T>A (n.1352-14129T>A)
c.10758A>T (p.Glu3586Asp)
c.10830A>T (p.Glu3610Asp)
c.3750A>T (p.Glu1250Asp)
n.106A>T
c.246A>T (p.Glu82Asp)
n.2836A>T
c.5403A>T (p.Glu1801Asp)
c.*1638A>T (n.*1638A>T)
c.10734A>T (p.Glu3578Asp)
n.10956A>T
c.10704A>T (p.Glu3568Asp)
c.10500A>T (p.Glu3500Asp)
n.12428A>T
c.10581A>T (p.Glu3527Asp)
c.10665A>T (p.Glu3555Asp)
c.4397A>T (n.4397A>T)
c.10617A>T (p.Glu3539Asp)
c.10797A>T (p.Glu3599Asp)
c.4518A>T (n.4518A>T)
c.10767A>T (p.Glu3589Asp)
c.4296A>T (p.Glu1432Asp)
n.2508A>T
n.558A>T
c.10905A>T (p.Glu3635Asp)
c.10929A>T (p.Glu3643Asp)
c.10869A>T (p.Glu3623Asp)
c.10866A>T (p.Glu3622Asp)
c.10851A>T (p.Glu3617Asp)
c.10890A>T (p.Glu3630Asp)
c.10809A>T (p.Glu3603Asp)
c.10764A>T (p.Glu3588Asp)
c.10794A>T (p.Glu3598Asp)
c.10770A>T (p.Glu3590Asp)
c.5418A>T (p.Glu1806Asp)
c.5379A>T (p.Glu1793Asp)
c.10893A>T (p.Glu3631Asp)
c.10854A>T (p.Glu3618Asp)
c.10839A>T (p.Glu3613Asp)
c.10800A>T (p.Glu3600Asp)
c.10752A>T (p.Glu3584Asp)
c.10521A>T (p.Glu3507Asp)
c.6558A>T (p.Glu2186Asp)
c.5442A>T (p.Glu1814Asp)
c.10656A>T (p.Glu3552Asp)
7g.92099732A>CCA456454131AKAP9,CYP51A1c.1352-14130T>G (n.1352-14130T>G)
c.10759A>C (p.Arg3587=)
c.10831A>C (p.Arg3611=)
c.3751A>C (p.Arg1251=)
n.107A>C
c.247A>C (p.Arg83=)
n.2837A>C
c.5404A>C (p.Arg1802=)
c.*1639A>C (n.*1639A>C)
c.10735A>C (p.Arg3579=)
n.10957A>C
c.10705A>C (p.Arg3569=)
c.10501A>C (p.Arg3501=)
n.12429A>C
c.10582A>C (p.Arg3528=)
c.10666A>C (p.Arg3556=)
c.4398A>C (n.4398A>C)
c.10618A>C (p.Arg3540=)
c.10798A>C (p.Arg3600=)
c.4519A>C (n.4519A>C)
c.10768A>C (p.Arg3590=)
c.4297A>C (p.Arg1433=)
n.2509A>C
n.559A>C
c.10906A>C (p.Arg3636=)
c.10930A>C (p.Arg3644=)
c.10870A>C (p.Arg3624=)
c.10867A>C (p.Arg3623=)
c.10852A>C (p.Arg3618=)
c.10891A>C (p.Arg3631=)
c.10810A>C (p.Arg3604=)
c.10765A>C (p.Arg3589=)
c.10795A>C (p.Arg3599=)
c.10771A>C (p.Arg3591=)
c.5419A>C (p.Arg1807=)
c.5380A>C (p.Arg1794=)
c.10894A>C (p.Arg3632=)
c.10855A>C (p.Arg3619=)
c.10840A>C (p.Arg3614=)
c.10801A>C (p.Arg3601=)
c.10753A>C (p.Arg3585=)
c.10522A>C (p.Arg3508=)
c.6559A>C (p.Arg2187=)
c.5443A>C (p.Arg1815=)
c.10657A>C (p.Arg3553=)
 gnomAD v4
7g.92099732A>GCA368158486AKAP9,CYP51A1c.1352-14130T>C (n.1352-14130T>C)
c.10759A>G (p.Arg3587Gly)
c.10831A>G (p.Arg3611Gly)
c.3751A>G (p.Arg1251Gly)
n.107A>G
c.247A>G (p.Arg83Gly)
n.2837A>G
c.5404A>G (p.Arg1802Gly)
c.*1639A>G (n.*1639A>G)
c.10735A>G (p.Arg3579Gly)
n.10957A>G
c.10705A>G (p.Arg3569Gly)
c.10501A>G (p.Arg3501Gly)
n.12429A>G
c.10582A>G (p.Arg3528Gly)
c.10666A>G (p.Arg3556Gly)
c.4398A>G (n.4398A>G)
c.10618A>G (p.Arg3540Gly)
c.10798A>G (p.Arg3600Gly)
c.4519A>G (n.4519A>G)
c.10768A>G (p.Arg3590Gly)
c.4297A>G (p.Arg1433Gly)
n.2509A>G
n.559A>G
c.10906A>G (p.Arg3636Gly)
c.10930A>G (p.Arg3644Gly)
c.10870A>G (p.Arg3624Gly)
c.10867A>G (p.Arg3623Gly)
c.10852A>G (p.Arg3618Gly)
c.10891A>G (p.Arg3631Gly)
c.10810A>G (p.Arg3604Gly)
c.10765A>G (p.Arg3589Gly)
c.10795A>G (p.Arg3599Gly)
c.10771A>G (p.Arg3591Gly)
c.5419A>G (p.Arg1807Gly)
c.5380A>G (p.Arg1794Gly)
c.10894A>G (p.Arg3632Gly)
c.10855A>G (p.Arg3619Gly)
c.10840A>G (p.Arg3614Gly)
c.10801A>G (p.Arg3601Gly)
c.10753A>G (p.Arg3585Gly)
c.10522A>G (p.Arg3508Gly)
c.6559A>G (p.Arg2187Gly)
c.5443A>G (p.Arg1815Gly)
c.10657A>G (p.Arg3553Gly)
7g.92099732A>TCA368158488AKAP9,CYP51A1c.1352-14130T>A (n.1352-14130T>A)
c.10759A>T (p.Arg3587Ter)
c.10831A>T (p.Arg3611Ter)
c.3751A>T (p.Arg1251Ter)
n.107A>T
c.247A>T (p.Arg83Ter)
n.2837A>T
c.5404A>T (p.Arg1802Ter)
c.*1639A>T (n.*1639A>T)
c.10735A>T (p.Arg3579Ter)
n.10957A>T
c.10705A>T (p.Arg3569Ter)
c.10501A>T (p.Arg3501Ter)
n.12429A>T
c.10582A>T (p.Arg3528Ter)
c.10666A>T (p.Arg3556Ter)
c.4398A>T (n.4398A>T)
c.10618A>T (p.Arg3540Ter)
c.10798A>T (p.Arg3600Ter)
c.4519A>T (n.4519A>T)
c.10768A>T (p.Arg3590Ter)
c.4297A>T (p.Arg1433Ter)
n.2509A>T
n.559A>T
c.10906A>T (p.Arg3636Ter)
c.10930A>T (p.Arg3644Ter)
c.10870A>T (p.Arg3624Ter)
c.10867A>T (p.Arg3623Ter)
c.10852A>T (p.Arg3618Ter)
c.10891A>T (p.Arg3631Ter)
c.10810A>T (p.Arg3604Ter)
c.10765A>T (p.Arg3589Ter)
c.10795A>T (p.Arg3599Ter)
c.10771A>T (p.Arg3591Ter)
c.5419A>T (p.Arg1807Ter)
c.5380A>T (p.Arg1794Ter)
c.10894A>T (p.Arg3632Ter)
c.10855A>T (p.Arg3619Ter)
c.10840A>T (p.Arg3614Ter)
c.10801A>T (p.Arg3601Ter)
c.10753A>T (p.Arg3585Ter)
c.10522A>T (p.Arg3508Ter)
c.6559A>T (p.Arg2187Ter)
c.5443A>T (p.Arg1815Ter)
c.10657A>T (p.Arg3553Ter)
7g.92099733G>ACA368158490AKAP9,CYP51A1c.1352-14131C>T (n.1352-14131C>T)
c.10760G>A (p.Arg3587Lys)
c.10832G>A (p.Arg3611Lys)
c.3752G>A (p.Arg1251Lys)
n.108G>A
c.248G>A (p.Arg83Lys)
n.2838G>A
c.5405G>A (p.Arg1802Lys)
c.*1640G>A (n.*1640G>A)
c.10736G>A (p.Arg3579Lys)
n.10958G>A
c.10706G>A (p.Arg3569Lys)
c.10502G>A (p.Arg3501Lys)
n.12430G>A
c.10583G>A (p.Arg3528Lys)
c.10667G>A (p.Arg3556Lys)
c.4399G>A (n.4399G>A)
c.10619G>A (p.Arg3540Lys)
c.10799G>A (p.Arg3600Lys)
c.4520G>A (n.4520G>A)
c.10769G>A (p.Arg3590Lys)
c.4298G>A (p.Arg1433Lys)
n.2510G>A
n.560G>A
c.10907G>A (p.Arg3636Lys)
c.10931G>A (p.Arg3644Lys)
c.10871G>A (p.Arg3624Lys)
c.10868G>A (p.Arg3623Lys)
c.10853G>A (p.Arg3618Lys)
c.10892G>A (p.Arg3631Lys)
c.10811G>A (p.Arg3604Lys)
c.10766G>A (p.Arg3589Lys)
c.10796G>A (p.Arg3599Lys)
c.10772G>A (p.Arg3591Lys)
c.5420G>A (p.Arg1807Lys)
c.5381G>A (p.Arg1794Lys)
c.10895G>A (p.Arg3632Lys)
c.10856G>A (p.Arg3619Lys)
c.10841G>A (p.Arg3614Lys)
c.10802G>A (p.Arg3601Lys)
c.10754G>A (p.Arg3585Lys)
c.10523G>A (p.Arg3508Lys)
c.6560G>A (p.Arg2187Lys)
c.5444G>A (p.Arg1815Lys)
c.10658G>A (p.Arg3553Lys)
7g.92099733G>CCA368158491AKAP9,CYP51A1c.1352-14131C>G (n.1352-14131C>G)
c.10760G>C (p.Arg3587Thr)
c.10832G>C (p.Arg3611Thr)
c.3752G>C (p.Arg1251Thr)
n.108G>C
c.248G>C (p.Arg83Thr)
n.2838G>C
c.5405G>C (p.Arg1802Thr)
c.*1640G>C (n.*1640G>C)
c.10736G>C (p.Arg3579Thr)
n.10958G>C
c.10706G>C (p.Arg3569Thr)
c.10502G>C (p.Arg3501Thr)
n.12430G>C
c.10583G>C (p.Arg3528Thr)
c.10667G>C (p.Arg3556Thr)
c.4399G>C (n.4399G>C)
c.10619G>C (p.Arg3540Thr)
c.10799G>C (p.Arg3600Thr)
c.4520G>C (n.4520G>C)
c.10769G>C (p.Arg3590Thr)
c.4298G>C (p.Arg1433Thr)
n.2510G>C
n.560G>C
c.10907G>C (p.Arg3636Thr)
c.10931G>C (p.Arg3644Thr)
c.10871G>C (p.Arg3624Thr)
c.10868G>C (p.Arg3623Thr)
c.10853G>C (p.Arg3618Thr)
c.10892G>C (p.Arg3631Thr)
c.10811G>C (p.Arg3604Thr)
c.10766G>C (p.Arg3589Thr)
c.10796G>C (p.Arg3599Thr)
c.10772G>C (p.Arg3591Thr)
c.5420G>C (p.Arg1807Thr)
c.5381G>C (p.Arg1794Thr)
c.10895G>C (p.Arg3632Thr)
c.10856G>C (p.Arg3619Thr)
c.10841G>C (p.Arg3614Thr)
c.10802G>C (p.Arg3601Thr)
c.10754G>C (p.Arg3585Thr)
c.10523G>C (p.Arg3508Thr)
c.6560G>C (p.Arg2187Thr)
c.5444G>C (p.Arg1815Thr)
c.10658G>C (p.Arg3553Thr)
 COSMIC COSMIC
7g.92099733G>TCA368158492AKAP9,CYP51A1c.1352-14131C>A (n.1352-14131C>A)
c.10760G>T (p.Arg3587Ile)
c.10832G>T (p.Arg3611Ile)
c.3752G>T (p.Arg1251Ile)
n.108G>T
c.248G>T (p.Arg83Ile)
n.2838G>T
c.5405G>T (p.Arg1802Ile)
c.*1640G>T (n.*1640G>T)
c.10736G>T (p.Arg3579Ile)
n.10958G>T
c.10706G>T (p.Arg3569Ile)
c.10502G>T (p.Arg3501Ile)
n.12430G>T
c.10583G>T (p.Arg3528Ile)
c.10667G>T (p.Arg3556Ile)
c.4399G>T (n.4399G>T)
c.10619G>T (p.Arg3540Ile)
c.10799G>T (p.Arg3600Ile)
c.4520G>T (n.4520G>T)
c.10769G>T (p.Arg3590Ile)
c.4298G>T (p.Arg1433Ile)
n.2510G>T
n.560G>T
c.10907G>T (p.Arg3636Ile)
c.10931G>T (p.Arg3644Ile)
c.10871G>T (p.Arg3624Ile)
c.10868G>T (p.Arg3623Ile)
c.10853G>T (p.Arg3618Ile)
c.10892G>T (p.Arg3631Ile)
c.10811G>T (p.Arg3604Ile)
c.10766G>T (p.Arg3589Ile)
c.10796G>T (p.Arg3599Ile)
c.10772G>T (p.Arg3591Ile)
c.5420G>T (p.Arg1807Ile)
c.5381G>T (p.Arg1794Ile)
c.10895G>T (p.Arg3632Ile)
c.10856G>T (p.Arg3619Ile)
c.10841G>T (p.Arg3614Ile)
c.10802G>T (p.Arg3601Ile)
c.10754G>T (p.Arg3585Ile)
c.10523G>T (p.Arg3508Ile)
c.6560G>T (p.Arg2187Ile)
c.5444G>T (p.Arg1815Ile)
c.10658G>T (p.Arg3553Ile)
7g.92099734A=CA1725766273AKAP9,CYP51A1c.1352-14132T= (n.1352-14132T=)
c.10761A= (p.Arg3587=)
c.10833A= (p.Arg3611=)
c.3753A= (p.Arg1251=)
n.109A=
c.249A= (p.Arg83=)
n.2839A=
c.5406A= (p.Arg1802=)
c.*1641A= (n.*1641A=)
c.10737A= (p.Arg3579=)
n.10959A=
c.10707A= (p.Arg3569=)
c.10503A= (p.Arg3501=)
n.12431A=
c.10584A= (p.Arg3528=)
c.10668A= (p.Arg3556=)
c.4400A= (n.4400A=)
c.10620A= (p.Arg3540=)
c.10800A= (p.Arg3600=)
c.4521A= (n.4521A=)
c.10770A= (p.Arg3590=)
c.4299A= (p.Arg1433=)
n.2511A=
n.561A=
c.10908A= (p.Arg3636=)
c.10932A= (p.Arg3644=)
c.10872A= (p.Arg3624=)
c.10869A= (p.Arg3623=)
c.10854A= (p.Arg3618=)
c.10893A= (p.Arg3631=)
c.10812A= (p.Arg3604=)
c.10767A= (p.Arg3589=)
c.10797A= (p.Arg3599=)
c.10773A= (p.Arg3591=)
c.5421A= (p.Arg1807=)
c.5382A= (p.Arg1794=)
c.10896A= (p.Arg3632=)
c.10857A= (p.Arg3619=)
c.10842A= (p.Arg3614=)
c.10803A= (p.Arg3601=)
c.10755A= (p.Arg3585=)
c.10524A= (p.Arg3508=)
c.6561A= (p.Arg2187=)
c.5445A= (p.Arg1815=)
c.10659A= (p.Arg3553=)
7g.92099734A>CCA368158494AKAP9,CYP51A1c.1352-14132T>G (n.1352-14132T>G)
c.10761A>C (p.Arg3587Ser)
c.10833A>C (p.Arg3611Ser)
c.3753A>C (p.Arg1251Ser)
n.109A>C
c.249A>C (p.Arg83Ser)
n.2839A>C
c.5406A>C (p.Arg1802Ser)
c.*1641A>C (n.*1641A>C)
c.10737A>C (p.Arg3579Ser)
n.10959A>C
c.10707A>C (p.Arg3569Ser)
c.10503A>C (p.Arg3501Ser)
n.12431A>C
c.10584A>C (p.Arg3528Ser)
c.10668A>C (p.Arg3556Ser)
c.4400A>C (n.4400A>C)
c.10620A>C (p.Arg3540Ser)
c.10800A>C (p.Arg3600Ser)
c.4521A>C (n.4521A>C)
c.10770A>C (p.Arg3590Ser)
c.4299A>C (p.Arg1433Ser)
n.2511A>C
n.561A>C
c.10908A>C (p.Arg3636Ser)
c.10932A>C (p.Arg3644Ser)
c.10872A>C (p.Arg3624Ser)
c.10869A>C (p.Arg3623Ser)
c.10854A>C (p.Arg3618Ser)
c.10893A>C (p.Arg3631Ser)
c.10812A>C (p.Arg3604Ser)
c.10767A>C (p.Arg3589Ser)
c.10797A>C (p.Arg3599Ser)
c.10773A>C (p.Arg3591Ser)
c.5421A>C (p.Arg1807Ser)
c.5382A>C (p.Arg1794Ser)
c.10896A>C (p.Arg3632Ser)
c.10857A>C (p.Arg3619Ser)
c.10842A>C (p.Arg3614Ser)
c.10803A>C (p.Arg3601Ser)
c.10755A>C (p.Arg3585Ser)
c.10524A>C (p.Arg3508Ser)
c.6561A>C (p.Arg2187Ser)
c.5445A>C (p.Arg1815Ser)
c.10659A>C (p.Arg3553Ser)
7g.92099734A>GCA4338024AKAP9,CYP51A1c.1352-14132T>C (n.1352-14132T>C)
c.10761A>G (p.Arg3587=)
c.10833A>G (p.Arg3611=)
c.3753A>G (p.Arg1251=)
n.109A>G
c.249A>G (p.Arg83=)
n.2839A>G
c.5406A>G (p.Arg1802=)
c.*1641A>G (n.*1641A>G)
c.10737A>G (p.Arg3579=)
n.10959A>G
c.10707A>G (p.Arg3569=)
c.10503A>G (p.Arg3501=)
n.12431A>G
c.10584A>G (p.Arg3528=)
c.10668A>G (p.Arg3556=)
c.4400A>G (n.4400A>G)
c.10620A>G (p.Arg3540=)
c.10800A>G (p.Arg3600=)
c.4521A>G (n.4521A>G)
c.10770A>G (p.Arg3590=)
c.4299A>G (p.Arg1433=)
n.2511A>G
n.561A>G
c.10908A>G (p.Arg3636=)
c.10932A>G (p.Arg3644=)
c.10872A>G (p.Arg3624=)
c.10869A>G (p.Arg3623=)
c.10854A>G (p.Arg3618=)
c.10893A>G (p.Arg3631=)
c.10812A>G (p.Arg3604=)
c.10767A>G (p.Arg3589=)
c.10797A>G (p.Arg3599=)
c.10773A>G (p.Arg3591=)
c.5421A>G (p.Arg1807=)
c.5382A>G (p.Arg1794=)
c.10896A>G (p.Arg3632=)
c.10857A>G (p.Arg3619=)
c.10842A>G (p.Arg3614=)
c.10803A>G (p.Arg3601=)
c.10755A>G (p.Arg3585=)
c.10524A>G (p.Arg3508=)
c.6561A>G (p.Arg2187=)
c.5445A>G (p.Arg1815=)
c.10659A>G (p.Arg3553=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099734A>TCA368158499AKAP9,CYP51A1c.1352-14132T>A (n.1352-14132T>A)
c.10761A>T (p.Arg3587Ser)
c.10833A>T (p.Arg3611Ser)
c.3753A>T (p.Arg1251Ser)
n.109A>T
c.249A>T (p.Arg83Ser)
n.2839A>T
c.5406A>T (p.Arg1802Ser)
c.*1641A>T (n.*1641A>T)
c.10737A>T (p.Arg3579Ser)
n.10959A>T
c.10707A>T (p.Arg3569Ser)
c.10503A>T (p.Arg3501Ser)
n.12431A>T
c.10584A>T (p.Arg3528Ser)
c.10668A>T (p.Arg3556Ser)
c.4400A>T (n.4400A>T)
c.10620A>T (p.Arg3540Ser)
c.10800A>T (p.Arg3600Ser)
c.4521A>T (n.4521A>T)
c.10770A>T (p.Arg3590Ser)
c.4299A>T (p.Arg1433Ser)
n.2511A>T
n.561A>T
c.10908A>T (p.Arg3636Ser)
c.10932A>T (p.Arg3644Ser)
c.10872A>T (p.Arg3624Ser)
c.10869A>T (p.Arg3623Ser)
c.10854A>T (p.Arg3618Ser)
c.10893A>T (p.Arg3631Ser)
c.10812A>T (p.Arg3604Ser)
c.10767A>T (p.Arg3589Ser)
c.10797A>T (p.Arg3599Ser)
c.10773A>T (p.Arg3591Ser)
c.5421A>T (p.Arg1807Ser)
c.5382A>T (p.Arg1794Ser)
c.10896A>T (p.Arg3632Ser)
c.10857A>T (p.Arg3619Ser)
c.10842A>T (p.Arg3614Ser)
c.10803A>T (p.Arg3601Ser)
c.10755A>T (p.Arg3585Ser)
c.10524A>T (p.Arg3508Ser)
c.6561A>T (p.Arg2187Ser)
c.5445A>T (p.Arg1815Ser)
c.10659A>T (p.Arg3553Ser)
7g.92099735C>ACA368158500AKAP9,CYP51A1c.1352-14133G>T (n.1352-14133G>T)
c.10762C>A (p.Leu3588Ile)
c.10834C>A (p.Leu3612Ile)
c.3754C>A (p.Leu1252Ile)
n.110C>A
c.250C>A (p.Leu84Ile)
n.2840C>A
c.5407C>A (p.Leu1803Ile)
c.*1642C>A (n.*1642C>A)
c.10738C>A (p.Leu3580Ile)
n.10960C>A
c.10708C>A (p.Leu3570Ile)
c.10504C>A (p.Leu3502Ile)
n.12432C>A
c.10585C>A (p.Leu3529Ile)
c.10669C>A (p.Leu3557Ile)
c.4401C>A (n.4401C>A)
c.10621C>A (p.Leu3541Ile)
c.10801C>A (p.Leu3601Ile)
c.4522C>A (n.4522C>A)
c.10771C>A (p.Leu3591Ile)
c.4300C>A (p.Leu1434Ile)
n.2512C>A
n.562C>A
c.10909C>A (p.Leu3637Ile)
c.10933C>A (p.Leu3645Ile)
c.10873C>A (p.Leu3625Ile)
c.10870C>A (p.Leu3624Ile)
c.10855C>A (p.Leu3619Ile)
c.10894C>A (p.Leu3632Ile)
c.10813C>A (p.Leu3605Ile)
c.10768C>A (p.Leu3590Ile)
c.10798C>A (p.Leu3600Ile)
c.10774C>A (p.Leu3592Ile)
c.5422C>A (p.Leu1808Ile)
c.5383C>A (p.Leu1795Ile)
c.10897C>A (p.Leu3633Ile)
c.10858C>A (p.Leu3620Ile)
c.10843C>A (p.Leu3615Ile)
c.10804C>A (p.Leu3602Ile)
c.10756C>A (p.Leu3586Ile)
c.10525C>A (p.Leu3509Ile)
c.6562C>A (p.Leu2188Ile)
c.5446C>A (p.Leu1816Ile)
c.10660C>A (p.Leu3554Ile)
7g.92099735C>GCA368158501AKAP9,CYP51A1c.1352-14133G>C (n.1352-14133G>C)
c.10762C>G (p.Leu3588Val)
c.10834C>G (p.Leu3612Val)
c.3754C>G (p.Leu1252Val)
n.110C>G
c.250C>G (p.Leu84Val)
n.2840C>G
c.5407C>G (p.Leu1803Val)
c.*1642C>G (n.*1642C>G)
c.10738C>G (p.Leu3580Val)
n.10960C>G
c.10708C>G (p.Leu3570Val)
c.10504C>G (p.Leu3502Val)
n.12432C>G
c.10585C>G (p.Leu3529Val)
c.10669C>G (p.Leu3557Val)
c.4401C>G (n.4401C>G)
c.10621C>G (p.Leu3541Val)
c.10801C>G (p.Leu3601Val)
c.4522C>G (n.4522C>G)
c.10771C>G (p.Leu3591Val)
c.4300C>G (p.Leu1434Val)
n.2512C>G
n.562C>G
c.10909C>G (p.Leu3637Val)
c.10933C>G (p.Leu3645Val)
c.10873C>G (p.Leu3625Val)
c.10870C>G (p.Leu3624Val)
c.10855C>G (p.Leu3619Val)
c.10894C>G (p.Leu3632Val)
c.10813C>G (p.Leu3605Val)
c.10768C>G (p.Leu3590Val)
c.10798C>G (p.Leu3600Val)
c.10774C>G (p.Leu3592Val)
c.5422C>G (p.Leu1808Val)
c.5383C>G (p.Leu1795Val)
c.10897C>G (p.Leu3633Val)
c.10858C>G (p.Leu3620Val)
c.10843C>G (p.Leu3615Val)
c.10804C>G (p.Leu3602Val)
c.10756C>G (p.Leu3586Val)
c.10525C>G (p.Leu3509Val)
c.6562C>G (p.Leu2188Val)
c.5446C>G (p.Leu1816Val)
c.10660C>G (p.Leu3554Val)
7g.92099735C>TCA456454132AKAP9,CYP51A1c.1352-14133G>A (n.1352-14133G>A)
c.10762C>T (p.Leu3588=)
c.10834C>T (p.Leu3612=)
c.3754C>T (p.Leu1252=)
n.110C>T
c.250C>T (p.Leu84=)
n.2840C>T
c.5407C>T (p.Leu1803=)
c.*1642C>T (n.*1642C>T)
c.10738C>T (p.Leu3580=)
n.10960C>T
c.10708C>T (p.Leu3570=)
c.10504C>T (p.Leu3502=)
n.12432C>T
c.10585C>T (p.Leu3529=)
c.10669C>T (p.Leu3557=)
c.4401C>T (n.4401C>T)
c.10621C>T (p.Leu3541=)
c.10801C>T (p.Leu3601=)
c.4522C>T (n.4522C>T)
c.10771C>T (p.Leu3591=)
c.4300C>T (p.Leu1434=)
n.2512C>T
n.562C>T
c.10909C>T (p.Leu3637=)
c.10933C>T (p.Leu3645=)
c.10873C>T (p.Leu3625=)
c.10870C>T (p.Leu3624=)
c.10855C>T (p.Leu3619=)
c.10894C>T (p.Leu3632=)
c.10813C>T (p.Leu3605=)
c.10768C>T (p.Leu3590=)
c.10798C>T (p.Leu3600=)
c.10774C>T (p.Leu3592=)
c.5422C>T (p.Leu1808=)
c.5383C>T (p.Leu1795=)
c.10897C>T (p.Leu3633=)
c.10858C>T (p.Leu3620=)
c.10843C>T (p.Leu3615=)
c.10804C>T (p.Leu3602=)
c.10756C>T (p.Leu3586=)
c.10525C>T (p.Leu3509=)
c.6562C>T (p.Leu2188=)
c.5446C>T (p.Leu1816=)
c.10660C>T (p.Leu3554=)
7g.92099736T>ACA368158502AKAP9,CYP51A1c.1352-14134A>T (n.1352-14134A>T)
c.10763T>A (p.Leu3588Gln)
c.10835T>A (p.Leu3612Gln)
c.3755T>A (p.Leu1252Gln)
n.111T>A
c.251T>A (p.Leu84Gln)
n.2841T>A
c.5408T>A (p.Leu1803Gln)
c.*1643T>A (n.*1643T>A)
c.10739T>A (p.Leu3580Gln)
n.10961T>A
c.10709T>A (p.Leu3570Gln)
c.10505T>A (p.Leu3502Gln)
n.12433T>A
c.10586T>A (p.Leu3529Gln)
c.10670T>A (p.Leu3557Gln)
c.4402T>A (n.4402T>A)
c.10622T>A (p.Leu3541Gln)
c.10802T>A (p.Leu3601Gln)
c.4523T>A (n.4523T>A)
c.10772T>A (p.Leu3591Gln)
c.4301T>A (p.Leu1434Gln)
n.2513T>A
n.563T>A
c.10910T>A (p.Leu3637Gln)
c.10934T>A (p.Leu3645Gln)
c.10874T>A (p.Leu3625Gln)
c.10871T>A (p.Leu3624Gln)
c.10856T>A (p.Leu3619Gln)
c.10895T>A (p.Leu3632Gln)
c.10814T>A (p.Leu3605Gln)
c.10769T>A (p.Leu3590Gln)
c.10799T>A (p.Leu3600Gln)
c.10775T>A (p.Leu3592Gln)
c.5423T>A (p.Leu1808Gln)
c.5384T>A (p.Leu1795Gln)
c.10898T>A (p.Leu3633Gln)
c.10859T>A (p.Leu3620Gln)
c.10844T>A (p.Leu3615Gln)
c.10805T>A (p.Leu3602Gln)
c.10757T>A (p.Leu3586Gln)
c.10526T>A (p.Leu3509Gln)
c.6563T>A (p.Leu2188Gln)
c.5447T>A (p.Leu1816Gln)
c.10661T>A (p.Leu3554Gln)
7g.92099736T>CCA368158503AKAP9,CYP51A1c.1352-14134A>G (n.1352-14134A>G)
c.10763T>C (p.Leu3588Pro)
c.10835T>C (p.Leu3612Pro)
c.3755T>C (p.Leu1252Pro)
n.111T>C
c.251T>C (p.Leu84Pro)
n.2841T>C
c.5408T>C (p.Leu1803Pro)
c.*1643T>C (n.*1643T>C)
c.10739T>C (p.Leu3580Pro)
n.10961T>C
c.10709T>C (p.Leu3570Pro)
c.10505T>C (p.Leu3502Pro)
n.12433T>C
c.10586T>C (p.Leu3529Pro)
c.10670T>C (p.Leu3557Pro)
c.4402T>C (n.4402T>C)
c.10622T>C (p.Leu3541Pro)
c.10802T>C (p.Leu3601Pro)
c.4523T>C (n.4523T>C)
c.10772T>C (p.Leu3591Pro)
c.4301T>C (p.Leu1434Pro)
n.2513T>C
n.563T>C
c.10910T>C (p.Leu3637Pro)
c.10934T>C (p.Leu3645Pro)
c.10874T>C (p.Leu3625Pro)
c.10871T>C (p.Leu3624Pro)
c.10856T>C (p.Leu3619Pro)
c.10895T>C (p.Leu3632Pro)
c.10814T>C (p.Leu3605Pro)
c.10769T>C (p.Leu3590Pro)
c.10799T>C (p.Leu3600Pro)
c.10775T>C (p.Leu3592Pro)
c.5423T>C (p.Leu1808Pro)
c.5384T>C (p.Leu1795Pro)
c.10898T>C (p.Leu3633Pro)
c.10859T>C (p.Leu3620Pro)
c.10844T>C (p.Leu3615Pro)
c.10805T>C (p.Leu3602Pro)
c.10757T>C (p.Leu3586Pro)
c.10526T>C (p.Leu3509Pro)
c.6563T>C (p.Leu2188Pro)
c.5447T>C (p.Leu1816Pro)
c.10661T>C (p.Leu3554Pro)
 ClinVar
7g.92099736T>GCA368158504AKAP9,CYP51A1c.1352-14134A>C (n.1352-14134A>C)
c.10763T>G (p.Leu3588Arg)
c.10835T>G (p.Leu3612Arg)
c.3755T>G (p.Leu1252Arg)
n.111T>G
c.251T>G (p.Leu84Arg)
n.2841T>G
c.5408T>G (p.Leu1803Arg)
c.*1643T>G (n.*1643T>G)
c.10739T>G (p.Leu3580Arg)
n.10961T>G
c.10709T>G (p.Leu3570Arg)
c.10505T>G (p.Leu3502Arg)
n.12433T>G
c.10586T>G (p.Leu3529Arg)
c.10670T>G (p.Leu3557Arg)
c.4402T>G (n.4402T>G)
c.10622T>G (p.Leu3541Arg)
c.10802T>G (p.Leu3601Arg)
c.4523T>G (n.4523T>G)
c.10772T>G (p.Leu3591Arg)
c.4301T>G (p.Leu1434Arg)
n.2513T>G
n.563T>G
c.10910T>G (p.Leu3637Arg)
c.10934T>G (p.Leu3645Arg)
c.10874T>G (p.Leu3625Arg)
c.10871T>G (p.Leu3624Arg)
c.10856T>G (p.Leu3619Arg)
c.10895T>G (p.Leu3632Arg)
c.10814T>G (p.Leu3605Arg)
c.10769T>G (p.Leu3590Arg)
c.10799T>G (p.Leu3600Arg)
c.10775T>G (p.Leu3592Arg)
c.5423T>G (p.Leu1808Arg)
c.5384T>G (p.Leu1795Arg)
c.10898T>G (p.Leu3633Arg)
c.10859T>G (p.Leu3620Arg)
c.10844T>G (p.Leu3615Arg)
c.10805T>G (p.Leu3602Arg)
c.10757T>G (p.Leu3586Arg)
c.10526T>G (p.Leu3509Arg)
c.6563T>G (p.Leu2188Arg)
c.5447T>G (p.Leu1816Arg)
c.10661T>G (p.Leu3554Arg)
 gnomAD v4
7g.92099737A>CCA456454133AKAP9,CYP51A1c.1352-14135T>G (n.1352-14135T>G)
c.10764A>C (p.Leu3588=)
c.10836A>C (p.Leu3612=)
c.3756A>C (p.Leu1252=)
n.112A>C
c.252A>C (p.Leu84=)
n.2842A>C
c.5409A>C (p.Leu1803=)
c.*1644A>C (n.*1644A>C)
c.10740A>C (p.Leu3580=)
n.10962A>C
c.10710A>C (p.Leu3570=)
c.10506A>C (p.Leu3502=)
n.12434A>C
c.10587A>C (p.Leu3529=)
c.10671A>C (p.Leu3557=)
c.4403A>C (n.4403A>C)
c.10623A>C (p.Leu3541=)
c.10803A>C (p.Leu3601=)
c.4524A>C (n.4524A>C)
c.10773A>C (p.Leu3591=)
c.4302A>C (p.Leu1434=)
n.2514A>C
n.564A>C
c.10911A>C (p.Leu3637=)
c.10935A>C (p.Leu3645=)
c.10875A>C (p.Leu3625=)
c.10872A>C (p.Leu3624=)
c.10857A>C (p.Leu3619=)
c.10896A>C (p.Leu3632=)
c.10815A>C (p.Leu3605=)
c.10770A>C (p.Leu3590=)
c.10800A>C (p.Leu3600=)
c.10776A>C (p.Leu3592=)
c.5424A>C (p.Leu1808=)
c.5385A>C (p.Leu1795=)
c.10899A>C (p.Leu3633=)
c.10860A>C (p.Leu3620=)
c.10845A>C (p.Leu3615=)
c.10806A>C (p.Leu3602=)
c.10758A>C (p.Leu3586=)
c.10527A>C (p.Leu3509=)
c.6564A>C (p.Leu2188=)
c.5448A>C (p.Leu1816=)
c.10662A>C (p.Leu3554=)
7g.92099737A>GCA456454134AKAP9,CYP51A1c.1352-14135T>C (n.1352-14135T>C)
c.10764A>G (p.Leu3588=)
c.10836A>G (p.Leu3612=)
c.3756A>G (p.Leu1252=)
n.112A>G
c.252A>G (p.Leu84=)
n.2842A>G
c.5409A>G (p.Leu1803=)
c.*1644A>G (n.*1644A>G)
c.10740A>G (p.Leu3580=)
n.10962A>G
c.10710A>G (p.Leu3570=)
c.10506A>G (p.Leu3502=)
n.12434A>G
c.10587A>G (p.Leu3529=)
c.10671A>G (p.Leu3557=)
c.4403A>G (n.4403A>G)
c.10623A>G (p.Leu3541=)
c.10803A>G (p.Leu3601=)
c.4524A>G (n.4524A>G)
c.10773A>G (p.Leu3591=)
c.4302A>G (p.Leu1434=)
n.2514A>G
n.564A>G
c.10911A>G (p.Leu3637=)
c.10935A>G (p.Leu3645=)
c.10875A>G (p.Leu3625=)
c.10872A>G (p.Leu3624=)
c.10857A>G (p.Leu3619=)
c.10896A>G (p.Leu3632=)
c.10815A>G (p.Leu3605=)
c.10770A>G (p.Leu3590=)
c.10800A>G (p.Leu3600=)
c.10776A>G (p.Leu3592=)
c.5424A>G (p.Leu1808=)
c.5385A>G (p.Leu1795=)
c.10899A>G (p.Leu3633=)
c.10860A>G (p.Leu3620=)
c.10845A>G (p.Leu3615=)
c.10806A>G (p.Leu3602=)
c.10758A>G (p.Leu3586=)
c.10527A>G (p.Leu3509=)
c.6564A>G (p.Leu2188=)
c.5448A>G (p.Leu1816=)
c.10662A>G (p.Leu3554=)
7g.92099737A>TCA456454135AKAP9,CYP51A1c.1352-14135T>A (n.1352-14135T>A)
c.10764A>T (p.Leu3588=)
c.10836A>T (p.Leu3612=)
c.3756A>T (p.Leu1252=)
n.112A>T
c.252A>T (p.Leu84=)
n.2842A>T
c.5409A>T (p.Leu1803=)
c.*1644A>T (n.*1644A>T)
c.10740A>T (p.Leu3580=)
n.10962A>T
c.10710A>T (p.Leu3570=)
c.10506A>T (p.Leu3502=)
n.12434A>T
c.10587A>T (p.Leu3529=)
c.10671A>T (p.Leu3557=)
c.4403A>T (n.4403A>T)
c.10623A>T (p.Leu3541=)
c.10803A>T (p.Leu3601=)
c.4524A>T (n.4524A>T)
c.10773A>T (p.Leu3591=)
c.4302A>T (p.Leu1434=)
n.2514A>T
n.564A>T
c.10911A>T (p.Leu3637=)
c.10935A>T (p.Leu3645=)
c.10875A>T (p.Leu3625=)
c.10872A>T (p.Leu3624=)
c.10857A>T (p.Leu3619=)
c.10896A>T (p.Leu3632=)
c.10815A>T (p.Leu3605=)
c.10770A>T (p.Leu3590=)
c.10800A>T (p.Leu3600=)
c.10776A>T (p.Leu3592=)
c.5424A>T (p.Leu1808=)
c.5385A>T (p.Leu1795=)
c.10899A>T (p.Leu3633=)
c.10860A>T (p.Leu3620=)
c.10845A>T (p.Leu3615=)
c.10806A>T (p.Leu3602=)
c.10758A>T (p.Leu3586=)
c.10527A>T (p.Leu3509=)
c.6564A>T (p.Leu2188=)
c.5448A>T (p.Leu1816=)
c.10662A>T (p.Leu3554=)
7g.92099738C>ACA368158505AKAP9,CYP51A1c.1352-14136G>T (n.1352-14136G>T)
c.10765C>A (p.Leu3589Met)
c.10837C>A (p.Leu3613Met)
c.3757C>A (p.Leu1253Met)
n.113C>A
c.253C>A (p.Leu85Met)
n.2843C>A
c.5410C>A (p.Leu1804Met)
c.*1645C>A (n.*1645C>A)
c.10741C>A (p.Leu3581Met)
n.10963C>A
c.10711C>A (p.Leu3571Met)
c.10507C>A (p.Leu3503Met)
n.12435C>A
c.10588C>A (p.Leu3530Met)
c.10672C>A (p.Leu3558Met)
c.4404C>A (n.4404C>A)
c.10624C>A (p.Leu3542Met)
c.10804C>A (p.Leu3602Met)
c.4525C>A (n.4525C>A)
c.10774C>A (p.Leu3592Met)
c.4303C>A (p.Leu1435Met)
n.2515C>A
n.565C>A
c.10912C>A (p.Leu3638Met)
c.10936C>A (p.Leu3646Met)
c.10876C>A (p.Leu3626Met)
c.10873C>A (p.Leu3625Met)
c.10858C>A (p.Leu3620Met)
c.10897C>A (p.Leu3633Met)
c.10816C>A (p.Leu3606Met)
c.10771C>A (p.Leu3591Met)
c.10801C>A (p.Leu3601Met)
c.10777C>A (p.Leu3593Met)
c.5425C>A (p.Leu1809Met)
c.5386C>A (p.Leu1796Met)
c.10900C>A (p.Leu3634Met)
c.10861C>A (p.Leu3621Met)
c.10846C>A (p.Leu3616Met)
c.10807C>A (p.Leu3603Met)
c.10759C>A (p.Leu3587Met)
c.10528C>A (p.Leu3510Met)
c.6565C>A (p.Leu2189Met)
c.5449C>A (p.Leu1817Met)
c.10663C>A (p.Leu3555Met)
7g.92099738C>GCA368158506AKAP9,CYP51A1c.1352-14136G>C (n.1352-14136G>C)
c.10765C>G (p.Leu3589Val)
c.10837C>G (p.Leu3613Val)
c.3757C>G (p.Leu1253Val)
n.113C>G
c.253C>G (p.Leu85Val)
n.2843C>G
c.5410C>G (p.Leu1804Val)
c.*1645C>G (n.*1645C>G)
c.10741C>G (p.Leu3581Val)
n.10963C>G
c.10711C>G (p.Leu3571Val)
c.10507C>G (p.Leu3503Val)
n.12435C>G
c.10588C>G (p.Leu3530Val)
c.10672C>G (p.Leu3558Val)
c.4404C>G (n.4404C>G)
c.10624C>G (p.Leu3542Val)
c.10804C>G (p.Leu3602Val)
c.4525C>G (n.4525C>G)
c.10774C>G (p.Leu3592Val)
c.4303C>G (p.Leu1435Val)
n.2515C>G
n.565C>G
c.10912C>G (p.Leu3638Val)
c.10936C>G (p.Leu3646Val)
c.10876C>G (p.Leu3626Val)
c.10873C>G (p.Leu3625Val)
c.10858C>G (p.Leu3620Val)
c.10897C>G (p.Leu3633Val)
c.10816C>G (p.Leu3606Val)
c.10771C>G (p.Leu3591Val)
c.10801C>G (p.Leu3601Val)
c.10777C>G (p.Leu3593Val)
c.5425C>G (p.Leu1809Val)
c.5386C>G (p.Leu1796Val)
c.10900C>G (p.Leu3634Val)
c.10861C>G (p.Leu3621Val)
c.10846C>G (p.Leu3616Val)
c.10807C>G (p.Leu3603Val)
c.10759C>G (p.Leu3587Val)
c.10528C>G (p.Leu3510Val)
c.6565C>G (p.Leu2189Val)
c.5449C>G (p.Leu1817Val)
c.10663C>G (p.Leu3555Val)
7g.92099738C>TCA456454136AKAP9,CYP51A1c.1352-14136G>A (n.1352-14136G>A)
c.10765C>T (p.Leu3589=)
c.10837C>T (p.Leu3613=)
c.3757C>T (p.Leu1253=)
n.113C>T
c.253C>T (p.Leu85=)
n.2843C>T
c.5410C>T (p.Leu1804=)
c.*1645C>T (n.*1645C>T)
c.10741C>T (p.Leu3581=)
n.10963C>T
c.10711C>T (p.Leu3571=)
c.10507C>T (p.Leu3503=)
n.12435C>T
c.10588C>T (p.Leu3530=)
c.10672C>T (p.Leu3558=)
c.4404C>T (n.4404C>T)
c.10624C>T (p.Leu3542=)
c.10804C>T (p.Leu3602=)
c.4525C>T (n.4525C>T)
c.10774C>T (p.Leu3592=)
c.4303C>T (p.Leu1435=)
n.2515C>T
n.565C>T
c.10912C>T (p.Leu3638=)
c.10936C>T (p.Leu3646=)
c.10876C>T (p.Leu3626=)
c.10873C>T (p.Leu3625=)
c.10858C>T (p.Leu3620=)
c.10897C>T (p.Leu3633=)
c.10816C>T (p.Leu3606=)
c.10771C>T (p.Leu3591=)
c.10801C>T (p.Leu3601=)
c.10777C>T (p.Leu3593=)
c.5425C>T (p.Leu1809=)
c.5386C>T (p.Leu1796=)
c.10900C>T (p.Leu3634=)
c.10861C>T (p.Leu3621=)
c.10846C>T (p.Leu3616=)
c.10807C>T (p.Leu3603=)
c.10759C>T (p.Leu3587=)
c.10528C>T (p.Leu3510=)
c.6565C>T (p.Leu2189=)
c.5449C>T (p.Leu1817=)
c.10663C>T (p.Leu3555=)
7g.92099739T>ACA368158508AKAP9,CYP51A1c.1352-14137A>T (n.1352-14137A>T)
c.10766T>A (p.Leu3589Gln)
c.10838T>A (p.Leu3613Gln)
c.3758T>A (p.Leu1253Gln)
n.114T>A
c.254T>A (p.Leu85Gln)
n.2844T>A
c.5411T>A (p.Leu1804Gln)
c.*1646T>A (n.*1646T>A)
c.10742T>A (p.Leu3581Gln)
n.10964T>A
c.10712T>A (p.Leu3571Gln)
c.10508T>A (p.Leu3503Gln)
n.12436T>A
c.10589T>A (p.Leu3530Gln)
c.10673T>A (p.Leu3558Gln)
c.4405T>A (n.4405T>A)
c.10625T>A (p.Leu3542Gln)
c.10805T>A (p.Leu3602Gln)
c.4526T>A (n.4526T>A)
c.10775T>A (p.Leu3592Gln)
c.4304T>A (p.Leu1435Gln)
n.2516T>A
n.566T>A
c.10913T>A (p.Leu3638Gln)
c.10937T>A (p.Leu3646Gln)
c.10877T>A (p.Leu3626Gln)
c.10874T>A (p.Leu3625Gln)
c.10859T>A (p.Leu3620Gln)
c.10898T>A (p.Leu3633Gln)
c.10817T>A (p.Leu3606Gln)
c.10772T>A (p.Leu3591Gln)
c.10802T>A (p.Leu3601Gln)
c.10778T>A (p.Leu3593Gln)
c.5426T>A (p.Leu1809Gln)
c.5387T>A (p.Leu1796Gln)
c.10901T>A (p.Leu3634Gln)
c.10862T>A (p.Leu3621Gln)
c.10847T>A (p.Leu3616Gln)
c.10808T>A (p.Leu3603Gln)
c.10760T>A (p.Leu3587Gln)
c.10529T>A (p.Leu3510Gln)
c.6566T>A (p.Leu2189Gln)
c.5450T>A (p.Leu1817Gln)
c.10664T>A (p.Leu3555Gln)
7g.92099739T>CCA368158509AKAP9,CYP51A1c.1352-14137A>G (n.1352-14137A>G)
c.10766T>C (p.Leu3589Pro)
c.10838T>C (p.Leu3613Pro)
c.3758T>C (p.Leu1253Pro)
n.114T>C
c.254T>C (p.Leu85Pro)
n.2844T>C
c.5411T>C (p.Leu1804Pro)
c.*1646T>C (n.*1646T>C)
c.10742T>C (p.Leu3581Pro)
n.10964T>C
c.10712T>C (p.Leu3571Pro)
c.10508T>C (p.Leu3503Pro)
n.12436T>C
c.10589T>C (p.Leu3530Pro)
c.10673T>C (p.Leu3558Pro)
c.4405T>C (n.4405T>C)
c.10625T>C (p.Leu3542Pro)
c.10805T>C (p.Leu3602Pro)
c.4526T>C (n.4526T>C)
c.10775T>C (p.Leu3592Pro)
c.4304T>C (p.Leu1435Pro)
n.2516T>C
n.566T>C
c.10913T>C (p.Leu3638Pro)
c.10937T>C (p.Leu3646Pro)
c.10877T>C (p.Leu3626Pro)
c.10874T>C (p.Leu3625Pro)
c.10859T>C (p.Leu3620Pro)
c.10898T>C (p.Leu3633Pro)
c.10817T>C (p.Leu3606Pro)
c.10772T>C (p.Leu3591Pro)
c.10802T>C (p.Leu3601Pro)
c.10778T>C (p.Leu3593Pro)
c.5426T>C (p.Leu1809Pro)
c.5387T>C (p.Leu1796Pro)
c.10901T>C (p.Leu3634Pro)
c.10862T>C (p.Leu3621Pro)
c.10847T>C (p.Leu3616Pro)
c.10808T>C (p.Leu3603Pro)
c.10760T>C (p.Leu3587Pro)
c.10529T>C (p.Leu3510Pro)
c.6566T>C (p.Leu2189Pro)
c.5450T>C (p.Leu1817Pro)
c.10664T>C (p.Leu3555Pro)
7g.92099739T>GCA368158511AKAP9,CYP51A1c.1352-14137A>C (n.1352-14137A>C)
c.10766T>G (p.Leu3589Arg)
c.10838T>G (p.Leu3613Arg)
c.3758T>G (p.Leu1253Arg)
n.114T>G
c.254T>G (p.Leu85Arg)
n.2844T>G
c.5411T>G (p.Leu1804Arg)
c.*1646T>G (n.*1646T>G)
c.10742T>G (p.Leu3581Arg)
n.10964T>G
c.10712T>G (p.Leu3571Arg)
c.10508T>G (p.Leu3503Arg)
n.12436T>G
c.10589T>G (p.Leu3530Arg)
c.10673T>G (p.Leu3558Arg)
c.4405T>G (n.4405T>G)
c.10625T>G (p.Leu3542Arg)
c.10805T>G (p.Leu3602Arg)
c.4526T>G (n.4526T>G)
c.10775T>G (p.Leu3592Arg)
c.4304T>G (p.Leu1435Arg)
n.2516T>G
n.566T>G
c.10913T>G (p.Leu3638Arg)
c.10937T>G (p.Leu3646Arg)
c.10877T>G (p.Leu3626Arg)
c.10874T>G (p.Leu3625Arg)
c.10859T>G (p.Leu3620Arg)
c.10898T>G (p.Leu3633Arg)
c.10817T>G (p.Leu3606Arg)
c.10772T>G (p.Leu3591Arg)
c.10802T>G (p.Leu3601Arg)
c.10778T>G (p.Leu3593Arg)
c.5426T>G (p.Leu1809Arg)
c.5387T>G (p.Leu1796Arg)
c.10901T>G (p.Leu3634Arg)
c.10862T>G (p.Leu3621Arg)
c.10847T>G (p.Leu3616Arg)
c.10808T>G (p.Leu3603Arg)
c.10760T>G (p.Leu3587Arg)
c.10529T>G (p.Leu3510Arg)
c.6566T>G (p.Leu2189Arg)
c.5450T>G (p.Leu1817Arg)
c.10664T>G (p.Leu3555Arg)
 ClinVar dbSNP
7g.92099739T=CA1725766280AKAP9,CYP51A1c.1352-14137A= (n.1352-14137A=)
c.10766T= (p.Leu3589=)
c.10838T= (p.Leu3613=)
c.3758T= (p.Leu1253=)
n.114T=
c.254T= (p.Leu85=)
n.2844T=
c.5411T= (p.Leu1804=)
c.*1646T= (n.*1646T=)
c.10742T= (p.Leu3581=)
n.10964T=
c.10712T= (p.Leu3571=)
c.10508T= (p.Leu3503=)
n.12436T=
c.10589T= (p.Leu3530=)
c.10673T= (p.Leu3558=)
c.4405T= (n.4405T=)
c.10625T= (p.Leu3542=)
c.10805T= (p.Leu3602=)
c.4526T= (n.4526T=)
c.10775T= (p.Leu3592=)
c.4304T= (p.Leu1435=)
n.2516T=
n.566T=
c.10913T= (p.Leu3638=)
c.10937T= (p.Leu3646=)
c.10877T= (p.Leu3626=)
c.10874T= (p.Leu3625=)
c.10859T= (p.Leu3620=)
c.10898T= (p.Leu3633=)
c.10817T= (p.Leu3606=)
c.10772T= (p.Leu3591=)
c.10802T= (p.Leu3601=)
c.10778T= (p.Leu3593=)
c.5426T= (p.Leu1809=)
c.5387T= (p.Leu1796=)
c.10901T= (p.Leu3634=)
c.10862T= (p.Leu3621=)
c.10847T= (p.Leu3616=)
c.10808T= (p.Leu3603=)
c.10760T= (p.Leu3587=)
c.10529T= (p.Leu3510=)
c.6566T= (p.Leu2189=)
c.5450T= (p.Leu1817=)
c.10664T= (p.Leu3555=)
7g.92099740G>ACA245695AKAP9,CYP51A1c.1352-14138C>T (n.1352-14138C>T)
c.10767G>A (p.Leu3589=)
c.10839G>A (p.Leu3613=)
c.3759G>A (p.Leu1253=)
n.115G>A
c.255G>A (p.Leu85=)
n.2845G>A
c.5412G>A (p.Leu1804=)
c.*1647G>A (n.*1647G>A)
c.10743G>A (p.Leu3581=)
n.10965G>A
c.10713G>A (p.Leu3571=)
c.10509G>A (p.Leu3503=)
n.12437G>A
c.10590G>A (p.Leu3530=)
c.10674G>A (p.Leu3558=)
c.4406G>A (n.4406G>A)
c.10626G>A (p.Leu3542=)
c.10806G>A (p.Leu3602=)
c.4527G>A (n.4527G>A)
c.10776G>A (p.Leu3592=)
c.4305G>A (p.Leu1435=)
n.2517G>A
n.567G>A
c.10914G>A (p.Leu3638=)
c.10938G>A (p.Leu3646=)
c.10878G>A (p.Leu3626=)
c.10875G>A (p.Leu3625=)
c.10860G>A (p.Leu3620=)
c.10899G>A (p.Leu3633=)
c.10818G>A (p.Leu3606=)
c.10773G>A (p.Leu3591=)
c.10803G>A (p.Leu3601=)
c.10779G>A (p.Leu3593=)
c.5427G>A (p.Leu1809=)
c.5388G>A (p.Leu1796=)
c.10902G>A (p.Leu3634=)
c.10863G>A (p.Leu3621=)
c.10848G>A (p.Leu3616=)
c.10809G>A (p.Leu3603=)
c.10761G>A (p.Leu3587=)
c.10530G>A (p.Leu3510=)
c.6567G>A (p.Leu2189=)
c.5451G>A (p.Leu1817=)
c.10665G>A (p.Leu3555=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099740G>CCA456454137AKAP9,CYP51A1c.1352-14138C>G (n.1352-14138C>G)
c.10767G>C (p.Leu3589=)
c.10839G>C (p.Leu3613=)
c.3759G>C (p.Leu1253=)
n.115G>C
c.255G>C (p.Leu85=)
n.2845G>C
c.5412G>C (p.Leu1804=)
c.*1647G>C (n.*1647G>C)
c.10743G>C (p.Leu3581=)
n.10965G>C
c.10713G>C (p.Leu3571=)
c.10509G>C (p.Leu3503=)
n.12437G>C
c.10590G>C (p.Leu3530=)
c.10674G>C (p.Leu3558=)
c.4406G>C (n.4406G>C)
c.10626G>C (p.Leu3542=)
c.10806G>C (p.Leu3602=)
c.4527G>C (n.4527G>C)
c.10776G>C (p.Leu3592=)
c.4305G>C (p.Leu1435=)
n.2517G>C
n.567G>C
c.10914G>C (p.Leu3638=)
c.10938G>C (p.Leu3646=)
c.10878G>C (p.Leu3626=)
c.10875G>C (p.Leu3625=)
c.10860G>C (p.Leu3620=)
c.10899G>C (p.Leu3633=)
c.10818G>C (p.Leu3606=)
c.10773G>C (p.Leu3591=)
c.10803G>C (p.Leu3601=)
c.10779G>C (p.Leu3593=)
c.5427G>C (p.Leu1809=)
c.5388G>C (p.Leu1796=)
c.10902G>C (p.Leu3634=)
c.10863G>C (p.Leu3621=)
c.10848G>C (p.Leu3616=)
c.10809G>C (p.Leu3603=)
c.10761G>C (p.Leu3587=)
c.10530G>C (p.Leu3510=)
c.6567G>C (p.Leu2189=)
c.5451G>C (p.Leu1817=)
c.10665G>C (p.Leu3555=)
7g.92099740G=CA1725766290AKAP9,CYP51A1c.1352-14138C= (n.1352-14138C=)
c.10767G= (p.Leu3589=)
c.10839G= (p.Leu3613=)
c.3759G= (p.Leu1253=)
n.115G=
c.255G= (p.Leu85=)
n.2845G=
c.5412G= (p.Leu1804=)
c.*1647G= (n.*1647G=)
c.10743G= (p.Leu3581=)
n.10965G=
c.10713G= (p.Leu3571=)
c.10509G= (p.Leu3503=)
n.12437G=
c.10590G= (p.Leu3530=)
c.10674G= (p.Leu3558=)
c.4406G= (n.4406G=)
c.10626G= (p.Leu3542=)
c.10806G= (p.Leu3602=)
c.4527G= (n.4527G=)
c.10776G= (p.Leu3592=)
c.4305G= (p.Leu1435=)
n.2517G=
n.567G=
c.10914G= (p.Leu3638=)
c.10938G= (p.Leu3646=)
c.10878G= (p.Leu3626=)
c.10875G= (p.Leu3625=)
c.10860G= (p.Leu3620=)
c.10899G= (p.Leu3633=)
c.10818G= (p.Leu3606=)
c.10773G= (p.Leu3591=)
c.10803G= (p.Leu3601=)
c.10779G= (p.Leu3593=)
c.5427G= (p.Leu1809=)
c.5388G= (p.Leu1796=)
c.10902G= (p.Leu3634=)
c.10863G= (p.Leu3621=)
c.10848G= (p.Leu3616=)
c.10809G= (p.Leu3603=)
c.10761G= (p.Leu3587=)
c.10530G= (p.Leu3510=)
c.6567G= (p.Leu2189=)
c.5451G= (p.Leu1817=)
c.10665G= (p.Leu3555=)
7g.92099740G>TCA456454138AKAP9,CYP51A1c.1352-14138C>A (n.1352-14138C>A)
c.10767G>T (p.Leu3589=)
c.10839G>T (p.Leu3613=)
c.3759G>T (p.Leu1253=)
n.115G>T
c.255G>T (p.Leu85=)
n.2845G>T
c.5412G>T (p.Leu1804=)
c.*1647G>T (n.*1647G>T)
c.10743G>T (p.Leu3581=)
n.10965G>T
c.10713G>T (p.Leu3571=)
c.10509G>T (p.Leu3503=)
n.12437G>T
c.10590G>T (p.Leu3530=)
c.10674G>T (p.Leu3558=)
c.4406G>T (n.4406G>T)
c.10626G>T (p.Leu3542=)
c.10806G>T (p.Leu3602=)
c.4527G>T (n.4527G>T)
c.10776G>T (p.Leu3592=)
c.4305G>T (p.Leu1435=)
n.2517G>T
n.567G>T
c.10914G>T (p.Leu3638=)
c.10938G>T (p.Leu3646=)
c.10878G>T (p.Leu3626=)
c.10875G>T (p.Leu3625=)
c.10860G>T (p.Leu3620=)
c.10899G>T (p.Leu3633=)
c.10818G>T (p.Leu3606=)
c.10773G>T (p.Leu3591=)
c.10803G>T (p.Leu3601=)
c.10779G>T (p.Leu3593=)
c.5427G>T (p.Leu1809=)
c.5388G>T (p.Leu1796=)
c.10902G>T (p.Leu3634=)
c.10863G>T (p.Leu3621=)
c.10848G>T (p.Leu3616=)
c.10809G>T (p.Leu3603=)
c.10761G>T (p.Leu3587=)
c.10530G>T (p.Leu3510=)
c.6567G>T (p.Leu2189=)
c.5451G>T (p.Leu1817=)
c.10665G>T (p.Leu3555=)
7g.92099741A>CCA456454139AKAP9,CYP51A1c.1352-14139T>G (n.1352-14139T>G)
c.10768A>C (p.Arg3590=)
c.10840A>C (p.Arg3614=)
c.3760A>C (p.Arg1254=)
n.116A>C
c.256A>C (p.Arg86=)
n.2846A>C
c.5413A>C (p.Arg1805=)
c.*1648A>C (n.*1648A>C)
c.10744A>C (p.Arg3582=)
n.10966A>C
c.10714A>C (p.Arg3572=)
c.10510A>C (p.Arg3504=)
n.12438A>C
c.10591A>C (p.Arg3531=)
c.10675A>C (p.Arg3559=)
c.4407A>C (n.4407A>C)
c.10627A>C (p.Arg3543=)
c.10807A>C (p.Arg3603=)
c.4528A>C (n.4528A>C)
c.10777A>C (p.Arg3593=)
c.4306A>C (p.Arg1436=)
n.2518A>C
n.568A>C
c.10915A>C (p.Arg3639=)
c.10939A>C (p.Arg3647=)
c.10879A>C (p.Arg3627=)
c.10876A>C (p.Arg3626=)
c.10861A>C (p.Arg3621=)
c.10900A>C (p.Arg3634=)
c.10819A>C (p.Arg3607=)
c.10774A>C (p.Arg3592=)
c.10804A>C (p.Arg3602=)
c.10780A>C (p.Arg3594=)
c.5428A>C (p.Arg1810=)
c.5389A>C (p.Arg1797=)
c.10903A>C (p.Arg3635=)
c.10864A>C (p.Arg3622=)
c.10849A>C (p.Arg3617=)
c.10810A>C (p.Arg3604=)
c.10762A>C (p.Arg3588=)
c.10531A>C (p.Arg3511=)
c.6568A>C (p.Arg2190=)
c.5452A>C (p.Arg1818=)
c.10666A>C (p.Arg3556=)
7g.92099741A>GCA368158516AKAP9,CYP51A1c.1352-14139T>C (n.1352-14139T>C)
c.10768A>G (p.Arg3590Gly)
c.10840A>G (p.Arg3614Gly)
c.3760A>G (p.Arg1254Gly)
n.116A>G
c.256A>G (p.Arg86Gly)
n.2846A>G
c.5413A>G (p.Arg1805Gly)
c.*1648A>G (n.*1648A>G)
c.10744A>G (p.Arg3582Gly)
n.10966A>G
c.10714A>G (p.Arg3572Gly)
c.10510A>G (p.Arg3504Gly)
n.12438A>G
c.10591A>G (p.Arg3531Gly)
c.10675A>G (p.Arg3559Gly)
c.4407A>G (n.4407A>G)
c.10627A>G (p.Arg3543Gly)
c.10807A>G (p.Arg3603Gly)
c.4528A>G (n.4528A>G)
c.10777A>G (p.Arg3593Gly)
c.4306A>G (p.Arg1436Gly)
n.2518A>G
n.568A>G
c.10915A>G (p.Arg3639Gly)
c.10939A>G (p.Arg3647Gly)
c.10879A>G (p.Arg3627Gly)
c.10876A>G (p.Arg3626Gly)
c.10861A>G (p.Arg3621Gly)
c.10900A>G (p.Arg3634Gly)
c.10819A>G (p.Arg3607Gly)
c.10774A>G (p.Arg3592Gly)
c.10804A>G (p.Arg3602Gly)
c.10780A>G (p.Arg3594Gly)
c.5428A>G (p.Arg1810Gly)
c.5389A>G (p.Arg1797Gly)
c.10903A>G (p.Arg3635Gly)
c.10864A>G (p.Arg3622Gly)
c.10849A>G (p.Arg3617Gly)
c.10810A>G (p.Arg3604Gly)
c.10762A>G (p.Arg3588Gly)
c.10531A>G (p.Arg3511Gly)
c.6568A>G (p.Arg2190Gly)
c.5452A>G (p.Arg1818Gly)
c.10666A>G (p.Arg3556Gly)
7g.92099741A>TCA368158517AKAP9,CYP51A1c.1352-14139T>A (n.1352-14139T>A)
c.10768A>T (p.Arg3590Ter)
c.10840A>T (p.Arg3614Ter)
c.3760A>T (p.Arg1254Ter)
n.116A>T
c.256A>T (p.Arg86Ter)
n.2846A>T
c.5413A>T (p.Arg1805Ter)
c.*1648A>T (n.*1648A>T)
c.10744A>T (p.Arg3582Ter)
n.10966A>T
c.10714A>T (p.Arg3572Ter)
c.10510A>T (p.Arg3504Ter)
n.12438A>T
c.10591A>T (p.Arg3531Ter)
c.10675A>T (p.Arg3559Ter)
c.4407A>T (n.4407A>T)
c.10627A>T (p.Arg3543Ter)
c.10807A>T (p.Arg3603Ter)
c.4528A>T (n.4528A>T)
c.10777A>T (p.Arg3593Ter)
c.4306A>T (p.Arg1436Ter)
n.2518A>T
n.568A>T
c.10915A>T (p.Arg3639Ter)
c.10939A>T (p.Arg3647Ter)
c.10879A>T (p.Arg3627Ter)
c.10876A>T (p.Arg3626Ter)
c.10861A>T (p.Arg3621Ter)
c.10900A>T (p.Arg3634Ter)
c.10819A>T (p.Arg3607Ter)
c.10774A>T (p.Arg3592Ter)
c.10804A>T (p.Arg3602Ter)
c.10780A>T (p.Arg3594Ter)
c.5428A>T (p.Arg1810Ter)
c.5389A>T (p.Arg1797Ter)
c.10903A>T (p.Arg3635Ter)
c.10864A>T (p.Arg3622Ter)
c.10849A>T (p.Arg3617Ter)
c.10810A>T (p.Arg3604Ter)
c.10762A>T (p.Arg3588Ter)
c.10531A>T (p.Arg3511Ter)
c.6568A>T (p.Arg2190Ter)
c.5452A>T (p.Arg1818Ter)
c.10666A>T (p.Arg3556Ter)
7g.92099742G>ACA161898734AKAP9,CYP51A1c.1352-14140C>T (n.1352-14140C>T)
c.10769G>A (p.Arg3590Lys)
c.10841G>A (p.Arg3614Lys)
c.3761G>A (p.Arg1254Lys)
n.117G>A
c.257G>A (p.Arg86Lys)
n.2847G>A
c.5414G>A (p.Arg1805Lys)
c.*1649G>A (n.*1649G>A)
c.10745G>A (p.Arg3582Lys)
n.10967G>A
c.10715G>A (p.Arg3572Lys)
c.10511G>A (p.Arg3504Lys)
n.12439G>A
c.10592G>A (p.Arg3531Lys)
c.10676G>A (p.Arg3559Lys)
c.4408G>A (n.4408G>A)
c.10628G>A (p.Arg3543Lys)
c.10808G>A (p.Arg3603Lys)
c.4529G>A (n.4529G>A)
c.10778G>A (p.Arg3593Lys)
c.4307G>A (p.Arg1436Lys)
n.2519G>A
n.569G>A
c.10916G>A (p.Arg3639Lys)
c.10940G>A (p.Arg3647Lys)
c.10880G>A (p.Arg3627Lys)
c.10877G>A (p.Arg3626Lys)
c.10862G>A (p.Arg3621Lys)
c.10901G>A (p.Arg3634Lys)
c.10820G>A (p.Arg3607Lys)
c.10775G>A (p.Arg3592Lys)
c.10805G>A (p.Arg3602Lys)
c.10781G>A (p.Arg3594Lys)
c.5429G>A (p.Arg1810Lys)
c.5390G>A (p.Arg1797Lys)
c.10904G>A (p.Arg3635Lys)
c.10865G>A (p.Arg3622Lys)
c.10850G>A (p.Arg3617Lys)
c.10811G>A (p.Arg3604Lys)
c.10763G>A (p.Arg3588Lys)
c.10532G>A (p.Arg3511Lys)
c.6569G>A (p.Arg2190Lys)
c.5453G>A (p.Arg1818Lys)
c.10667G>A (p.Arg3556Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.92099742G>CCA368158525AKAP9,CYP51A1c.1352-14140C>G (n.1352-14140C>G)
c.10769G>C (p.Arg3590Thr)
c.10841G>C (p.Arg3614Thr)
c.3761G>C (p.Arg1254Thr)
n.117G>C
c.257G>C (p.Arg86Thr)
n.2847G>C
c.5414G>C (p.Arg1805Thr)
c.*1649G>C (n.*1649G>C)
c.10745G>C (p.Arg3582Thr)
n.10967G>C
c.10715G>C (p.Arg3572Thr)
c.10511G>C (p.Arg3504Thr)
n.12439G>C
c.10592G>C (p.Arg3531Thr)
c.10676G>C (p.Arg3559Thr)
c.4408G>C (n.4408G>C)
c.10628G>C (p.Arg3543Thr)
c.10808G>C (p.Arg3603Thr)
c.4529G>C (n.4529G>C)
c.10778G>C (p.Arg3593Thr)
c.4307G>C (p.Arg1436Thr)
n.2519G>C
n.569G>C
c.10916G>C (p.Arg3639Thr)
c.10940G>C (p.Arg3647Thr)
c.10880G>C (p.Arg3627Thr)
c.10877G>C (p.Arg3626Thr)
c.10862G>C (p.Arg3621Thr)
c.10901G>C (p.Arg3634Thr)
c.10820G>C (p.Arg3607Thr)
c.10775G>C (p.Arg3592Thr)
c.10805G>C (p.Arg3602Thr)
c.10781G>C (p.Arg3594Thr)
c.5429G>C (p.Arg1810Thr)
c.5390G>C (p.Arg1797Thr)
c.10904G>C (p.Arg3635Thr)
c.10865G>C (p.Arg3622Thr)
c.10850G>C (p.Arg3617Thr)
c.10811G>C (p.Arg3604Thr)
c.10763G>C (p.Arg3588Thr)
c.10532G>C (p.Arg3511Thr)
c.6569G>C (p.Arg2190Thr)
c.5453G>C (p.Arg1818Thr)
c.10667G>C (p.Arg3556Thr)
7g.92099742G=CA1725766314AKAP9,CYP51A1c.1352-14140C= (n.1352-14140C=)
c.10769G= (p.Arg3590=)
c.10841G= (p.Arg3614=)
c.3761G= (p.Arg1254=)
n.117G=
c.257G= (p.Arg86=)
n.2847G=
c.5414G= (p.Arg1805=)
c.*1649G= (n.*1649G=)
c.10745G= (p.Arg3582=)
n.10967G=
c.10715G= (p.Arg3572=)
c.10511G= (p.Arg3504=)
n.12439G=
c.10592G= (p.Arg3531=)
c.10676G= (p.Arg3559=)
c.4408G= (n.4408G=)
c.10628G= (p.Arg3543=)
c.10808G= (p.Arg3603=)
c.4529G= (n.4529G=)
c.10778G= (p.Arg3593=)
c.4307G= (p.Arg1436=)
n.2519G=
n.569G=
c.10916G= (p.Arg3639=)
c.10940G= (p.Arg3647=)
c.10880G= (p.Arg3627=)
c.10877G= (p.Arg3626=)
c.10862G= (p.Arg3621=)
c.10901G= (p.Arg3634=)
c.10820G= (p.Arg3607=)
c.10775G= (p.Arg3592=)
c.10805G= (p.Arg3602=)
c.10781G= (p.Arg3594=)
c.5429G= (p.Arg1810=)
c.5390G= (p.Arg1797=)
c.10904G= (p.Arg3635=)
c.10865G= (p.Arg3622=)
c.10850G= (p.Arg3617=)
c.10811G= (p.Arg3604=)
c.10763G= (p.Arg3588=)
c.10532G= (p.Arg3511=)
c.6569G= (p.Arg2190=)
c.5453G= (p.Arg1818=)
c.10667G= (p.Arg3556=)
7g.92099742G>TCA368158522AKAP9,CYP51A1c.1352-14140C>A (n.1352-14140C>A)
c.10769G>T (p.Arg3590Ile)
c.10841G>T (p.Arg3614Ile)
c.3761G>T (p.Arg1254Ile)
n.117G>T
c.257G>T (p.Arg86Ile)
n.2847G>T
c.5414G>T (p.Arg1805Ile)
c.*1649G>T (n.*1649G>T)
c.10745G>T (p.Arg3582Ile)
n.10967G>T
c.10715G>T (p.Arg3572Ile)
c.10511G>T (p.Arg3504Ile)
n.12439G>T
c.10592G>T (p.Arg3531Ile)
c.10676G>T (p.Arg3559Ile)
c.4408G>T (n.4408G>T)
c.10628G>T (p.Arg3543Ile)
c.10808G>T (p.Arg3603Ile)
c.4529G>T (n.4529G>T)
c.10778G>T (p.Arg3593Ile)
c.4307G>T (p.Arg1436Ile)
n.2519G>T
n.569G>T
c.10916G>T (p.Arg3639Ile)
c.10940G>T (p.Arg3647Ile)
c.10880G>T (p.Arg3627Ile)
c.10877G>T (p.Arg3626Ile)
c.10862G>T (p.Arg3621Ile)
c.10901G>T (p.Arg3634Ile)
c.10820G>T (p.Arg3607Ile)
c.10775G>T (p.Arg3592Ile)
c.10805G>T (p.Arg3602Ile)
c.10781G>T (p.Arg3594Ile)
c.5429G>T (p.Arg1810Ile)
c.5390G>T (p.Arg1797Ile)
c.10904G>T (p.Arg3635Ile)
c.10865G>T (p.Arg3622Ile)
c.10850G>T (p.Arg3617Ile)
c.10811G>T (p.Arg3604Ile)
c.10763G>T (p.Arg3588Ile)
c.10532G>T (p.Arg3511Ile)
c.6569G>T (p.Arg2190Ile)
c.5453G>T (p.Arg1818Ile)
c.10667G>T (p.Arg3556Ile)
7g.92099743A>CCA368158530AKAP9,CYP51A1c.1352-14141T>G (n.1352-14141T>G)
c.10770A>C (p.Arg3590Ser)
c.10842A>C (p.Arg3614Ser)
c.3762A>C (p.Arg1254Ser)
n.118A>C
c.258A>C (p.Arg86Ser)
n.2848A>C
c.5415A>C (p.Arg1805Ser)
c.*1650A>C (n.*1650A>C)
c.10746A>C (p.Arg3582Ser)
n.10968A>C
c.10716A>C (p.Arg3572Ser)
c.10512A>C (p.Arg3504Ser)
n.12440A>C
c.10593A>C (p.Arg3531Ser)
c.10677A>C (p.Arg3559Ser)
c.4409A>C (n.4409A>C)
c.10629A>C (p.Arg3543Ser)
c.10809A>C (p.Arg3603Ser)
c.4530A>C (n.4530A>C)
c.10779A>C (p.Arg3593Ser)
c.4308A>C (p.Arg1436Ser)
n.2520A>C
n.570A>C
c.10917A>C (p.Arg3639Ser)
c.10941A>C (p.Arg3647Ser)
c.10881A>C (p.Arg3627Ser)
c.10878A>C (p.Arg3626Ser)
c.10863A>C (p.Arg3621Ser)
c.10902A>C (p.Arg3634Ser)
c.10821A>C (p.Arg3607Ser)
c.10776A>C (p.Arg3592Ser)
c.10806A>C (p.Arg3602Ser)
c.10782A>C (p.Arg3594Ser)
c.5430A>C (p.Arg1810Ser)
c.5391A>C (p.Arg1797Ser)
c.10905A>C (p.Arg3635Ser)
c.10866A>C (p.Arg3622Ser)
c.10851A>C (p.Arg3617Ser)
c.10812A>C (p.Arg3604Ser)
c.10764A>C (p.Arg3588Ser)
c.10533A>C (p.Arg3511Ser)
c.6570A>C (p.Arg2190Ser)
c.5454A>C (p.Arg1818Ser)
c.10668A>C (p.Arg3556Ser)
7g.92099743A>GCA456454140AKAP9,CYP51A1c.1352-14141T>C (n.1352-14141T>C)
c.10770A>G (p.Arg3590=)
c.10842A>G (p.Arg3614=)
c.3762A>G (p.Arg1254=)
n.118A>G
c.258A>G (p.Arg86=)
n.2848A>G
c.5415A>G (p.Arg1805=)
c.*1650A>G (n.*1650A>G)
c.10746A>G (p.Arg3582=)
n.10968A>G
c.10716A>G (p.Arg3572=)
c.10512A>G (p.Arg3504=)
n.12440A>G
c.10593A>G (p.Arg3531=)
c.10677A>G (p.Arg3559=)
c.4409A>G (n.4409A>G)
c.10629A>G (p.Arg3543=)
c.10809A>G (p.Arg3603=)
c.4530A>G (n.4530A>G)
c.10779A>G (p.Arg3593=)
c.4308A>G (p.Arg1436=)
n.2520A>G
n.570A>G
c.10917A>G (p.Arg3639=)
c.10941A>G (p.Arg3647=)
c.10881A>G (p.Arg3627=)
c.10878A>G (p.Arg3626=)
c.10863A>G (p.Arg3621=)
c.10902A>G (p.Arg3634=)
c.10821A>G (p.Arg3607=)
c.10776A>G (p.Arg3592=)
c.10806A>G (p.Arg3602=)
c.10782A>G (p.Arg3594=)
c.5430A>G (p.Arg1810=)
c.5391A>G (p.Arg1797=)
c.10905A>G (p.Arg3635=)
c.10866A>G (p.Arg3622=)
c.10851A>G (p.Arg3617=)
c.10812A>G (p.Arg3604=)
c.10764A>G (p.Arg3588=)
c.10533A>G (p.Arg3511=)
c.6570A>G (p.Arg2190=)
c.5454A>G (p.Arg1818=)
c.10668A>G (p.Arg3556=)
7g.92099743A>TCA368158534AKAP9,CYP51A1c.1352-14141T>A (n.1352-14141T>A)
c.10770A>T (p.Arg3590Ser)
c.10842A>T (p.Arg3614Ser)
c.3762A>T (p.Arg1254Ser)
n.118A>T
c.258A>T (p.Arg86Ser)
n.2848A>T
c.5415A>T (p.Arg1805Ser)
c.*1650A>T (n.*1650A>T)
c.10746A>T (p.Arg3582Ser)
n.10968A>T
c.10716A>T (p.Arg3572Ser)
c.10512A>T (p.Arg3504Ser)
n.12440A>T
c.10593A>T (p.Arg3531Ser)
c.10677A>T (p.Arg3559Ser)
c.4409A>T (n.4409A>T)
c.10629A>T (p.Arg3543Ser)
c.10809A>T (p.Arg3603Ser)
c.4530A>T (n.4530A>T)
c.10779A>T (p.Arg3593Ser)
c.4308A>T (p.Arg1436Ser)
n.2520A>T
n.570A>T
c.10917A>T (p.Arg3639Ser)
c.10941A>T (p.Arg3647Ser)
c.10881A>T (p.Arg3627Ser)
c.10878A>T (p.Arg3626Ser)
c.10863A>T (p.Arg3621Ser)
c.10902A>T (p.Arg3634Ser)
c.10821A>T (p.Arg3607Ser)
c.10776A>T (p.Arg3592Ser)
c.10806A>T (p.Arg3602Ser)
c.10782A>T (p.Arg3594Ser)
c.5430A>T (p.Arg1810Ser)
c.5391A>T (p.Arg1797Ser)
c.10905A>T (p.Arg3635Ser)
c.10866A>T (p.Arg3622Ser)
c.10851A>T (p.Arg3617Ser)
c.10812A>T (p.Arg3604Ser)
c.10764A>T (p.Arg3588Ser)
c.10533A>T (p.Arg3511Ser)
c.6570A>T (p.Arg2190Ser)
c.5454A>T (p.Arg1818Ser)
c.10668A>T (p.Arg3556Ser)
7g.92099744C>ACA368158538AKAP9,CYP51A1c.1352-14142G>T (n.1352-14142G>T)
c.10771C>A (p.Gln3591Lys)
c.10843C>A (p.Gln3615Lys)
c.3763C>A (p.Gln1255Lys)
n.119C>A
c.259C>A (p.Gln87Lys)
n.2849C>A
c.5416C>A (p.Gln1806Lys)
c.*1651C>A (n.*1651C>A)
c.10747C>A (p.Gln3583Lys)
n.10969C>A
c.10717C>A (p.Gln3573Lys)
c.10513C>A (p.Gln3505Lys)
n.12441C>A
c.10594C>A (p.Gln3532Lys)
c.10678C>A (p.Gln3560Lys)
c.4410C>A (n.4410C>A)
c.10630C>A (p.Gln3544Lys)
c.10810C>A (p.Gln3604Lys)
c.4531C>A (n.4531C>A)
c.10780C>A (p.Gln3594Lys)
c.4309C>A (p.Gln1437Lys)
n.2521C>A
n.571C>A
c.10918C>A (p.Gln3640Lys)
c.10942C>A (p.Gln3648Lys)
c.10882C>A (p.Gln3628Lys)
c.10879C>A (p.Gln3627Lys)
c.10864C>A (p.Gln3622Lys)
c.10903C>A (p.Gln3635Lys)
c.10822C>A (p.Gln3608Lys)
c.10777C>A (p.Gln3593Lys)
c.10807C>A (p.Gln3603Lys)
c.10783C>A (p.Gln3595Lys)
c.5431C>A (p.Gln1811Lys)
c.5392C>A (p.Gln1798Lys)
c.10906C>A (p.Gln3636Lys)
c.10867C>A (p.Gln3623Lys)
c.10852C>A (p.Gln3618Lys)
c.10813C>A (p.Gln3605Lys)
c.10765C>A (p.Gln3589Lys)
c.10534C>A (p.Gln3512Lys)
c.6571C>A (p.Gln2191Lys)
c.5455C>A (p.Gln1819Lys)
c.10669C>A (p.Gln3557Lys)
7g.92099744C>GCA368158540AKAP9,CYP51A1c.1352-14142G>C (n.1352-14142G>C)
c.10771C>G (p.Gln3591Glu)
c.10843C>G (p.Gln3615Glu)
c.3763C>G (p.Gln1255Glu)
n.119C>G
c.259C>G (p.Gln87Glu)
n.2849C>G
c.5416C>G (p.Gln1806Glu)
c.*1651C>G (n.*1651C>G)
c.10747C>G (p.Gln3583Glu)
n.10969C>G
c.10717C>G (p.Gln3573Glu)
c.10513C>G (p.Gln3505Glu)
n.12441C>G
c.10594C>G (p.Gln3532Glu)
c.10678C>G (p.Gln3560Glu)
c.4410C>G (n.4410C>G)
c.10630C>G (p.Gln3544Glu)
c.10810C>G (p.Gln3604Glu)
c.4531C>G (n.4531C>G)
c.10780C>G (p.Gln3594Glu)
c.4309C>G (p.Gln1437Glu)
n.2521C>G
n.571C>G
c.10918C>G (p.Gln3640Glu)
c.10942C>G (p.Gln3648Glu)
c.10882C>G (p.Gln3628Glu)
c.10879C>G (p.Gln3627Glu)
c.10864C>G (p.Gln3622Glu)
c.10903C>G (p.Gln3635Glu)
c.10822C>G (p.Gln3608Glu)
c.10777C>G (p.Gln3593Glu)
c.10807C>G (p.Gln3603Glu)
c.10783C>G (p.Gln3595Glu)
c.5431C>G (p.Gln1811Glu)
c.5392C>G (p.Gln1798Glu)
c.10906C>G (p.Gln3636Glu)
c.10867C>G (p.Gln3623Glu)
c.10852C>G (p.Gln3618Glu)
c.10813C>G (p.Gln3605Glu)
c.10765C>G (p.Gln3589Glu)
c.10534C>G (p.Gln3512Glu)
c.6571C>G (p.Gln2191Glu)
c.5455C>G (p.Gln1819Glu)
c.10669C>G (p.Gln3557Glu)
7g.92099744C>TCA368158541AKAP9,CYP51A1c.1352-14142G>A (n.1352-14142G>A)
c.10771C>T (p.Gln3591Ter)
c.10843C>T (p.Gln3615Ter)
c.3763C>T (p.Gln1255Ter)
n.119C>T
c.259C>T (p.Gln87Ter)
n.2849C>T
c.5416C>T (p.Gln1806Ter)
c.*1651C>T (n.*1651C>T)
c.10747C>T (p.Gln3583Ter)
n.10969C>T
c.10717C>T (p.Gln3573Ter)
c.10513C>T (p.Gln3505Ter)
n.12441C>T
c.10594C>T (p.Gln3532Ter)
c.10678C>T (p.Gln3560Ter)
c.4410C>T (n.4410C>T)
c.10630C>T (p.Gln3544Ter)
c.10810C>T (p.Gln3604Ter)
c.4531C>T (n.4531C>T)
c.10780C>T (p.Gln3594Ter)
c.4309C>T (p.Gln1437Ter)
n.2521C>T
n.571C>T
c.10918C>T (p.Gln3640Ter)
c.10942C>T (p.Gln3648Ter)
c.10882C>T (p.Gln3628Ter)
c.10879C>T (p.Gln3627Ter)
c.10864C>T (p.Gln3622Ter)
c.10903C>T (p.Gln3635Ter)
c.10822C>T (p.Gln3608Ter)
c.10777C>T (p.Gln3593Ter)
c.10807C>T (p.Gln3603Ter)
c.10783C>T (p.Gln3595Ter)
c.5431C>T (p.Gln1811Ter)
c.5392C>T (p.Gln1798Ter)
c.10906C>T (p.Gln3636Ter)
c.10867C>T (p.Gln3623Ter)
c.10852C>T (p.Gln3618Ter)
c.10813C>T (p.Gln3605Ter)
c.10765C>T (p.Gln3589Ter)
c.10534C>T (p.Gln3512Ter)
c.6571C>T (p.Gln2191Ter)
c.5455C>T (p.Gln1819Ter)
c.10669C>T (p.Gln3557Ter)
7g.92099745A>CCA368158543AKAP9,CYP51A1c.1352-14143T>G (n.1352-14143T>G)
c.10772A>C (p.Gln3591Pro)
c.10844A>C (p.Gln3615Pro)
c.3764A>C (p.Gln1255Pro)
n.120A>C
c.260A>C (p.Gln87Pro)
n.2850A>C
c.5417A>C (p.Gln1806Pro)
c.*1652A>C (n.*1652A>C)
c.10748A>C (p.Gln3583Pro)
n.10970A>C
c.10718A>C (p.Gln3573Pro)
c.10514A>C (p.Gln3505Pro)
n.12442A>C
c.10595A>C (p.Gln3532Pro)
c.10679A>C (p.Gln3560Pro)
c.4411A>C (n.4411A>C)
c.10631A>C (p.Gln3544Pro)
c.10811A>C (p.Gln3604Pro)
c.4532A>C (n.4532A>C)
c.10781A>C (p.Gln3594Pro)
c.4310A>C (p.Gln1437Pro)
n.2522A>C
n.572A>C
c.10919A>C (p.Gln3640Pro)
c.10943A>C (p.Gln3648Pro)
c.10883A>C (p.Gln3628Pro)
c.10880A>C (p.Gln3627Pro)
c.10865A>C (p.Gln3622Pro)
c.10904A>C (p.Gln3635Pro)
c.10823A>C (p.Gln3608Pro)
c.10778A>C (p.Gln3593Pro)
c.10808A>C (p.Gln3603Pro)
c.10784A>C (p.Gln3595Pro)
c.5432A>C (p.Gln1811Pro)
c.5393A>C (p.Gln1798Pro)
c.10907A>C (p.Gln3636Pro)
c.10868A>C (p.Gln3623Pro)
c.10853A>C (p.Gln3618Pro)
c.10814A>C (p.Gln3605Pro)
c.10766A>C (p.Gln3589Pro)
c.10535A>C (p.Gln3512Pro)
c.6572A>C (p.Gln2191Pro)
c.5456A>C (p.Gln1819Pro)
c.10670A>C (p.Gln3557Pro)
7g.92099745A>GCA368158545AKAP9,CYP51A1c.1352-14143T>C (n.1352-14143T>C)
c.10772A>G (p.Gln3591Arg)
c.10844A>G (p.Gln3615Arg)
c.3764A>G (p.Gln1255Arg)
n.120A>G
c.260A>G (p.Gln87Arg)
n.2850A>G
c.5417A>G (p.Gln1806Arg)
c.*1652A>G (n.*1652A>G)
c.10748A>G (p.Gln3583Arg)
n.10970A>G
c.10718A>G (p.Gln3573Arg)
c.10514A>G (p.Gln3505Arg)
n.12442A>G
c.10595A>G (p.Gln3532Arg)
c.10679A>G (p.Gln3560Arg)
c.4411A>G (n.4411A>G)
c.10631A>G (p.Gln3544Arg)
c.10811A>G (p.Gln3604Arg)
c.4532A>G (n.4532A>G)
c.10781A>G (p.Gln3594Arg)
c.4310A>G (p.Gln1437Arg)
n.2522A>G
n.572A>G
c.10919A>G (p.Gln3640Arg)
c.10943A>G (p.Gln3648Arg)
c.10883A>G (p.Gln3628Arg)
c.10880A>G (p.Gln3627Arg)
c.10865A>G (p.Gln3622Arg)
c.10904A>G (p.Gln3635Arg)
c.10823A>G (p.Gln3608Arg)
c.10778A>G (p.Gln3593Arg)
c.10808A>G (p.Gln3603Arg)
c.10784A>G (p.Gln3595Arg)
c.5432A>G (p.Gln1811Arg)
c.5393A>G (p.Gln1798Arg)
c.10907A>G (p.Gln3636Arg)
c.10868A>G (p.Gln3623Arg)
c.10853A>G (p.Gln3618Arg)
c.10814A>G (p.Gln3605Arg)
c.10766A>G (p.Gln3589Arg)
c.10535A>G (p.Gln3512Arg)
c.6572A>G (p.Gln2191Arg)
c.5456A>G (p.Gln1819Arg)
c.10670A>G (p.Gln3557Arg)
7g.92099745A>TCA368158548AKAP9,CYP51A1c.1352-14143T>A (n.1352-14143T>A)
c.10772A>T (p.Gln3591Leu)
c.10844A>T (p.Gln3615Leu)
c.3764A>T (p.Gln1255Leu)
n.120A>T
c.260A>T (p.Gln87Leu)
n.2850A>T
c.5417A>T (p.Gln1806Leu)
c.*1652A>T (n.*1652A>T)
c.10748A>T (p.Gln3583Leu)
n.10970A>T
c.10718A>T (p.Gln3573Leu)
c.10514A>T (p.Gln3505Leu)
n.12442A>T
c.10595A>T (p.Gln3532Leu)
c.10679A>T (p.Gln3560Leu)
c.4411A>T (n.4411A>T)
c.10631A>T (p.Gln3544Leu)
c.10811A>T (p.Gln3604Leu)
c.4532A>T (n.4532A>T)
c.10781A>T (p.Gln3594Leu)
c.4310A>T (p.Gln1437Leu)
n.2522A>T
n.572A>T
c.10919A>T (p.Gln3640Leu)
c.10943A>T (p.Gln3648Leu)
c.10883A>T (p.Gln3628Leu)
c.10880A>T (p.Gln3627Leu)
c.10865A>T (p.Gln3622Leu)
c.10904A>T (p.Gln3635Leu)
c.10823A>T (p.Gln3608Leu)
c.10778A>T (p.Gln3593Leu)
c.10808A>T (p.Gln3603Leu)
c.10784A>T (p.Gln3595Leu)
c.5432A>T (p.Gln1811Leu)
c.5393A>T (p.Gln1798Leu)
c.10907A>T (p.Gln3636Leu)
c.10868A>T (p.Gln3623Leu)
c.10853A>T (p.Gln3618Leu)
c.10814A>T (p.Gln3605Leu)
c.10766A>T (p.Gln3589Leu)
c.10535A>T (p.Gln3512Leu)
c.6572A>T (p.Gln2191Leu)
c.5456A>T (p.Gln1819Leu)
c.10670A>T (p.Gln3557Leu)
7g.92099746A>CCA368158551AKAP9,CYP51A1c.1352-14144T>G (n.1352-14144T>G)
c.10773A>C (p.Gln3591His)
c.10845A>C (p.Gln3615His)
c.3765A>C (p.Gln1255His)
n.121A>C
c.261A>C (p.Gln87His)
n.2851A>C
c.5418A>C (p.Gln1806His)
c.*1653A>C (n.*1653A>C)
c.10749A>C (p.Gln3583His)
n.10971A>C
c.10719A>C (p.Gln3573His)
c.10515A>C (p.Gln3505His)
n.12443A>C
c.10596A>C (p.Gln3532His)
c.10680A>C (p.Gln3560His)
c.4412A>C (n.4412A>C)
c.10632A>C (p.Gln3544His)
c.10812A>C (p.Gln3604His)
c.4533A>C (n.4533A>C)
c.10782A>C (p.Gln3594His)
c.4311A>C (p.Gln1437His)
n.2523A>C
n.573A>C
c.10920A>C (p.Gln3640His)
c.10944A>C (p.Gln3648His)
c.10884A>C (p.Gln3628His)
c.10881A>C (p.Gln3627His)
c.10866A>C (p.Gln3622His)
c.10905A>C (p.Gln3635His)
c.10824A>C (p.Gln3608His)
c.10779A>C (p.Gln3593His)
c.10809A>C (p.Gln3603His)
c.10785A>C (p.Gln3595His)
c.5433A>C (p.Gln1811His)
c.5394A>C (p.Gln1798His)
c.10908A>C (p.Gln3636His)
c.10869A>C (p.Gln3623His)
c.10854A>C (p.Gln3618His)
c.10815A>C (p.Gln3605His)
c.10767A>C (p.Gln3589His)
c.10536A>C (p.Gln3512His)
c.6573A>C (p.Gln2191His)
c.5457A>C (p.Gln1819His)
c.10671A>C (p.Gln3557His)
7g.92099746A>GCA456454142AKAP9,CYP51A1c.1352-14144T>C (n.1352-14144T>C)
c.10773A>G (p.Gln3591=)
c.10845A>G (p.Gln3615=)
c.3765A>G (p.Gln1255=)
n.121A>G
c.261A>G (p.Gln87=)
n.2851A>G
c.5418A>G (p.Gln1806=)
c.*1653A>G (n.*1653A>G)
c.10749A>G (p.Gln3583=)
n.10971A>G
c.10719A>G (p.Gln3573=)
c.10515A>G (p.Gln3505=)
n.12443A>G
c.10596A>G (p.Gln3532=)
c.10680A>G (p.Gln3560=)
c.4412A>G (n.4412A>G)
c.10632A>G (p.Gln3544=)
c.10812A>G (p.Gln3604=)
c.4533A>G (n.4533A>G)
c.10782A>G (p.Gln3594=)
c.4311A>G (p.Gln1437=)
n.2523A>G
n.573A>G
c.10920A>G (p.Gln3640=)
c.10944A>G (p.Gln3648=)
c.10884A>G (p.Gln3628=)
c.10881A>G (p.Gln3627=)
c.10866A>G (p.Gln3622=)
c.10905A>G (p.Gln3635=)
c.10824A>G (p.Gln3608=)
c.10779A>G (p.Gln3593=)
c.10809A>G (p.Gln3603=)
c.10785A>G (p.Gln3595=)
c.5433A>G (p.Gln1811=)
c.5394A>G (p.Gln1798=)
c.10908A>G (p.Gln3636=)
c.10869A>G (p.Gln3623=)
c.10854A>G (p.Gln3618=)
c.10815A>G (p.Gln3605=)
c.10767A>G (p.Gln3589=)
c.10536A>G (p.Gln3512=)
c.6573A>G (p.Gln2191=)
c.5457A>G (p.Gln1819=)
c.10671A>G (p.Gln3557=)
7g.92099746A>TCA368158554AKAP9,CYP51A1c.1352-14144T>A (n.1352-14144T>A)
c.10773A>T (p.Gln3591His)
c.10845A>T (p.Gln3615His)
c.3765A>T (p.Gln1255His)
n.121A>T
c.261A>T (p.Gln87His)
n.2851A>T
c.5418A>T (p.Gln1806His)
c.*1653A>T (n.*1653A>T)
c.10749A>T (p.Gln3583His)
n.10971A>T
c.10719A>T (p.Gln3573His)
c.10515A>T (p.Gln3505His)
n.12443A>T
c.10596A>T (p.Gln3532His)
c.10680A>T (p.Gln3560His)
c.4412A>T (n.4412A>T)
c.10632A>T (p.Gln3544His)
c.10812A>T (p.Gln3604His)
c.4533A>T (n.4533A>T)
c.10782A>T (p.Gln3594His)
c.4311A>T (p.Gln1437His)
n.2523A>T
n.573A>T
c.10920A>T (p.Gln3640His)
c.10944A>T (p.Gln3648His)
c.10884A>T (p.Gln3628His)
c.10881A>T (p.Gln3627His)
c.10866A>T (p.Gln3622His)
c.10905A>T (p.Gln3635His)
c.10824A>T (p.Gln3608His)
c.10779A>T (p.Gln3593His)
c.10809A>T (p.Gln3603His)
c.10785A>T (p.Gln3595His)
c.5433A>T (p.Gln1811His)
c.5394A>T (p.Gln1798His)
c.10908A>T (p.Gln3636His)
c.10869A>T (p.Gln3623His)
c.10854A>T (p.Gln3618His)
c.10815A>T (p.Gln3605His)
c.10767A>T (p.Gln3589His)
c.10536A>T (p.Gln3512His)
c.6573A>T (p.Gln2191His)
c.5457A>T (p.Gln1819His)
c.10671A>T (p.Gln3557His)
7g.92099747A=CA1725766323AKAP9,CYP51A1c.1352-14145T= (n.1352-14145T=)
c.10774A= (p.Asn3592=)
c.10846A= (p.Asn3616=)
c.3766A= (p.Asn1256=)
n.122A=
c.262A= (p.Asn88=)
n.2852A=
c.5419A= (p.Asn1807=)
c.*1654A= (n.*1654A=)
c.10750A= (p.Asn3584=)
n.10972A=
c.10720A= (p.Asn3574=)
c.10516A= (p.Asn3506=)
n.12444A=
c.10597A= (p.Asn3533=)
c.10681A= (p.Asn3561=)
c.4413A= (n.4413A=)
c.10633A= (p.Asn3545=)
c.10813A= (p.Asn3605=)
c.4534A= (n.4534A=)
c.10783A= (p.Asn3595=)
c.4312A= (p.Asn1438=)
n.2524A=
n.574A=
c.10921A= (p.Asn3641=)
c.10945A= (p.Asn3649=)
c.10885A= (p.Asn3629=)
c.10882A= (p.Asn3628=)
c.10867A= (p.Asn3623=)
c.10906A= (p.Asn3636=)
c.10825A= (p.Asn3609=)
c.10780A= (p.Asn3594=)
c.10810A= (p.Asn3604=)
c.10786A= (p.Asn3596=)
c.5434A= (p.Asn1812=)
c.5395A= (p.Asn1799=)
c.10909A= (p.Asn3637=)
c.10870A= (p.Asn3624=)
c.10855A= (p.Asn3619=)
c.10816A= (p.Asn3606=)
c.10768A= (p.Asn3590=)
c.10537A= (p.Asn3513=)
c.6574A= (p.Asn2192=)
c.5458A= (p.Asn1820=)
c.10672A= (p.Asn3558=)
7g.92099747A>CCA4338025AKAP9,CYP51A1c.1352-14145T>G (n.1352-14145T>G)
c.10774A>C (p.Asn3592His)
c.10846A>C (p.Asn3616His)
c.3766A>C (p.Asn1256His)
n.122A>C
c.262A>C (p.Asn88His)
n.2852A>C
c.5419A>C (p.Asn1807His)
c.*1654A>C (n.*1654A>C)
c.10750A>C (p.Asn3584His)
n.10972A>C
c.10720A>C (p.Asn3574His)
c.10516A>C (p.Asn3506His)
n.12444A>C
c.10597A>C (p.Asn3533His)
c.10681A>C (p.Asn3561His)
c.4413A>C (n.4413A>C)
c.10633A>C (p.Asn3545His)
c.10813A>C (p.Asn3605His)
c.4534A>C (n.4534A>C)
c.10783A>C (p.Asn3595His)
c.4312A>C (p.Asn1438His)
n.2524A>C
n.574A>C
c.10921A>C (p.Asn3641His)
c.10945A>C (p.Asn3649His)
c.10885A>C (p.Asn3629His)
c.10882A>C (p.Asn3628His)
c.10867A>C (p.Asn3623His)
c.10906A>C (p.Asn3636His)
c.10825A>C (p.Asn3609His)
c.10780A>C (p.Asn3594His)
c.10810A>C (p.Asn3604His)
c.10786A>C (p.Asn3596His)
c.5434A>C (p.Asn1812His)
c.5395A>C (p.Asn1799His)
c.10909A>C (p.Asn3637His)
c.10870A>C (p.Asn3624His)
c.10855A>C (p.Asn3619His)
c.10816A>C (p.Asn3606His)
c.10768A>C (p.Asn3590His)
c.10537A>C (p.Asn3513His)
c.6574A>C (p.Asn2192His)
c.5458A>C (p.Asn1820His)
c.10672A>C (p.Asn3558His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099747A>GCA368158561AKAP9,CYP51A1c.1352-14145T>C (n.1352-14145T>C)
c.10774A>G (p.Asn3592Asp)
c.10846A>G (p.Asn3616Asp)
c.3766A>G (p.Asn1256Asp)
n.122A>G
c.262A>G (p.Asn88Asp)
n.2852A>G
c.5419A>G (p.Asn1807Asp)
c.*1654A>G (n.*1654A>G)
c.10750A>G (p.Asn3584Asp)
n.10972A>G
c.10720A>G (p.Asn3574Asp)
c.10516A>G (p.Asn3506Asp)
n.12444A>G
c.10597A>G (p.Asn3533Asp)
c.10681A>G (p.Asn3561Asp)
c.4413A>G (n.4413A>G)
c.10633A>G (p.Asn3545Asp)
c.10813A>G (p.Asn3605Asp)
c.4534A>G (n.4534A>G)
c.10783A>G (p.Asn3595Asp)
c.4312A>G (p.Asn1438Asp)
n.2524A>G
n.574A>G
c.10921A>G (p.Asn3641Asp)
c.10945A>G (p.Asn3649Asp)
c.10885A>G (p.Asn3629Asp)
c.10882A>G (p.Asn3628Asp)
c.10867A>G (p.Asn3623Asp)
c.10906A>G (p.Asn3636Asp)
c.10825A>G (p.Asn3609Asp)
c.10780A>G (p.Asn3594Asp)
c.10810A>G (p.Asn3604Asp)
c.10786A>G (p.Asn3596Asp)
c.5434A>G (p.Asn1812Asp)
c.5395A>G (p.Asn1799Asp)
c.10909A>G (p.Asn3637Asp)
c.10870A>G (p.Asn3624Asp)
c.10855A>G (p.Asn3619Asp)
c.10816A>G (p.Asn3606Asp)
c.10768A>G (p.Asn3590Asp)
c.10537A>G (p.Asn3513Asp)
c.6574A>G (p.Asn2192Asp)
c.5458A>G (p.Asn1820Asp)
c.10672A>G (p.Asn3558Asp)
7g.92099747A>TCA368158564AKAP9,CYP51A1c.1352-14145T>A (n.1352-14145T>A)
c.10774A>T (p.Asn3592Tyr)
c.10846A>T (p.Asn3616Tyr)
c.3766A>T (p.Asn1256Tyr)
n.122A>T
c.262A>T (p.Asn88Tyr)
n.2852A>T
c.5419A>T (p.Asn1807Tyr)
c.*1654A>T (n.*1654A>T)
c.10750A>T (p.Asn3584Tyr)
n.10972A>T
c.10720A>T (p.Asn3574Tyr)
c.10516A>T (p.Asn3506Tyr)
n.12444A>T
c.10597A>T (p.Asn3533Tyr)
c.10681A>T (p.Asn3561Tyr)
c.4413A>T (n.4413A>T)
c.10633A>T (p.Asn3545Tyr)
c.10813A>T (p.Asn3605Tyr)
c.4534A>T (n.4534A>T)
c.10783A>T (p.Asn3595Tyr)
c.4312A>T (p.Asn1438Tyr)
n.2524A>T
n.574A>T
c.10921A>T (p.Asn3641Tyr)
c.10945A>T (p.Asn3649Tyr)
c.10885A>T (p.Asn3629Tyr)
c.10882A>T (p.Asn3628Tyr)
c.10867A>T (p.Asn3623Tyr)
c.10906A>T (p.Asn3636Tyr)
c.10825A>T (p.Asn3609Tyr)
c.10780A>T (p.Asn3594Tyr)
c.10810A>T (p.Asn3604Tyr)
c.10786A>T (p.Asn3596Tyr)
c.5434A>T (p.Asn1812Tyr)
c.5395A>T (p.Asn1799Tyr)
c.10909A>T (p.Asn3637Tyr)
c.10870A>T (p.Asn3624Tyr)
c.10855A>T (p.Asn3619Tyr)
c.10816A>T (p.Asn3606Tyr)
c.10768A>T (p.Asn3590Tyr)
c.10537A>T (p.Asn3513Tyr)
c.6574A>T (p.Asn2192Tyr)
c.5458A>T (p.Asn1820Tyr)
c.10672A>T (p.Asn3558Tyr)
7g.92099748A>CCA368158574AKAP9,CYP51A1c.1352-14146T>G (n.1352-14146T>G)
c.10775A>C (p.Asn3592Thr)
c.10847A>C (p.Asn3616Thr)
c.3767A>C (p.Asn1256Thr)
n.123A>C
c.263A>C (p.Asn88Thr)
n.2853A>C
c.5420A>C (p.Asn1807Thr)
c.*1655A>C (n.*1655A>C)
c.10751A>C (p.Asn3584Thr)
n.10973A>C
c.10721A>C (p.Asn3574Thr)
c.10517A>C (p.Asn3506Thr)
n.12445A>C
c.10598A>C (p.Asn3533Thr)
c.10682A>C (p.Asn3561Thr)
c.4414A>C (n.4414A>C)
c.10634A>C (p.Asn3545Thr)
c.10814A>C (p.Asn3605Thr)
c.4535A>C (n.4535A>C)
c.10784A>C (p.Asn3595Thr)
c.4313A>C (p.Asn1438Thr)
n.2525A>C
n.575A>C
c.10922A>C (p.Asn3641Thr)
c.10946A>C (p.Asn3649Thr)
c.10886A>C (p.Asn3629Thr)
c.10883A>C (p.Asn3628Thr)
c.10868A>C (p.Asn3623Thr)
c.10907A>C (p.Asn3636Thr)
c.10826A>C (p.Asn3609Thr)
c.10781A>C (p.Asn3594Thr)
c.10811A>C (p.Asn3604Thr)
c.10787A>C (p.Asn3596Thr)
c.5435A>C (p.Asn1812Thr)
c.5396A>C (p.Asn1799Thr)
c.10910A>C (p.Asn3637Thr)
c.10871A>C (p.Asn3624Thr)
c.10856A>C (p.Asn3619Thr)
c.10817A>C (p.Asn3606Thr)
c.10769A>C (p.Asn3590Thr)
c.10538A>C (p.Asn3513Thr)
c.6575A>C (p.Asn2192Thr)
c.5459A>C (p.Asn1820Thr)
c.10673A>C (p.Asn3558Thr)
7g.92099748A>GCA368158570AKAP9,CYP51A1c.1352-14146T>C (n.1352-14146T>C)
c.10775A>G (p.Asn3592Ser)
c.10847A>G (p.Asn3616Ser)
c.3767A>G (p.Asn1256Ser)
n.123A>G
c.263A>G (p.Asn88Ser)
n.2853A>G
c.5420A>G (p.Asn1807Ser)
c.*1655A>G (n.*1655A>G)
c.10751A>G (p.Asn3584Ser)
n.10973A>G
c.10721A>G (p.Asn3574Ser)
c.10517A>G (p.Asn3506Ser)
n.12445A>G
c.10598A>G (p.Asn3533Ser)
c.10682A>G (p.Asn3561Ser)
c.4414A>G (n.4414A>G)
c.10634A>G (p.Asn3545Ser)
c.10814A>G (p.Asn3605Ser)
c.4535A>G (n.4535A>G)
c.10784A>G (p.Asn3595Ser)
c.4313A>G (p.Asn1438Ser)
n.2525A>G
n.575A>G
c.10922A>G (p.Asn3641Ser)
c.10946A>G (p.Asn3649Ser)
c.10886A>G (p.Asn3629Ser)
c.10883A>G (p.Asn3628Ser)
c.10868A>G (p.Asn3623Ser)
c.10907A>G (p.Asn3636Ser)
c.10826A>G (p.Asn3609Ser)
c.10781A>G (p.Asn3594Ser)
c.10811A>G (p.Asn3604Ser)
c.10787A>G (p.Asn3596Ser)
c.5435A>G (p.Asn1812Ser)
c.5396A>G (p.Asn1799Ser)
c.10910A>G (p.Asn3637Ser)
c.10871A>G (p.Asn3624Ser)
c.10856A>G (p.Asn3619Ser)
c.10817A>G (p.Asn3606Ser)
c.10769A>G (p.Asn3590Ser)
c.10538A>G (p.Asn3513Ser)
c.6575A>G (p.Asn2192Ser)
c.5459A>G (p.Asn1820Ser)
c.10673A>G (p.Asn3558Ser)
7g.92099748A>TCA368158572AKAP9,CYP51A1c.1352-14146T>A (n.1352-14146T>A)
c.10775A>T (p.Asn3592Ile)
c.10847A>T (p.Asn3616Ile)
c.3767A>T (p.Asn1256Ile)
n.123A>T
c.263A>T (p.Asn88Ile)
n.2853A>T
c.5420A>T (p.Asn1807Ile)
c.*1655A>T (n.*1655A>T)
c.10751A>T (p.Asn3584Ile)
n.10973A>T
c.10721A>T (p.Asn3574Ile)
c.10517A>T (p.Asn3506Ile)
n.12445A>T
c.10598A>T (p.Asn3533Ile)
c.10682A>T (p.Asn3561Ile)
c.4414A>T (n.4414A>T)
c.10634A>T (p.Asn3545Ile)
c.10814A>T (p.Asn3605Ile)
c.4535A>T (n.4535A>T)
c.10784A>T (p.Asn3595Ile)
c.4313A>T (p.Asn1438Ile)
n.2525A>T
n.575A>T
c.10922A>T (p.Asn3641Ile)
c.10946A>T (p.Asn3649Ile)
c.10886A>T (p.Asn3629Ile)
c.10883A>T (p.Asn3628Ile)
c.10868A>T (p.Asn3623Ile)
c.10907A>T (p.Asn3636Ile)
c.10826A>T (p.Asn3609Ile)
c.10781A>T (p.Asn3594Ile)
c.10811A>T (p.Asn3604Ile)
c.10787A>T (p.Asn3596Ile)
c.5435A>T (p.Asn1812Ile)
c.5396A>T (p.Asn1799Ile)
c.10910A>T (p.Asn3637Ile)
c.10871A>T (p.Asn3624Ile)
c.10856A>T (p.Asn3619Ile)
c.10817A>T (p.Asn3606Ile)
c.10769A>T (p.Asn3590Ile)
c.10538A>T (p.Asn3513Ile)
c.6575A>T (p.Asn2192Ile)
c.5459A>T (p.Asn1820Ile)
c.10673A>T (p.Asn3558Ile)
7g.92099749T>ACA368158575AKAP9,CYP51A1c.1352-14147A>T (n.1352-14147A>T)
c.10776T>A (p.Asn3592Lys)
c.10848T>A (p.Asn3616Lys)
c.3768T>A (p.Asn1256Lys)
n.124T>A
c.264T>A (p.Asn88Lys)
n.2854T>A
c.5421T>A (p.Asn1807Lys)
c.*1656T>A (n.*1656T>A)
c.10752T>A (p.Asn3584Lys)
n.10974T>A
c.10722T>A (p.Asn3574Lys)
c.10518T>A (p.Asn3506Lys)
n.12446T>A
c.10599T>A (p.Asn3533Lys)
c.10683T>A (p.Asn3561Lys)
c.4415T>A (n.4415T>A)
c.10635T>A (p.Asn3545Lys)
c.10815T>A (p.Asn3605Lys)
c.4536T>A (n.4536T>A)
c.10785T>A (p.Asn3595Lys)
c.4314T>A (p.Asn1438Lys)
n.2526T>A
n.576T>A
c.10923T>A (p.Asn3641Lys)
c.10947T>A (p.Asn3649Lys)
c.10887T>A (p.Asn3629Lys)
c.10884T>A (p.Asn3628Lys)
c.10869T>A (p.Asn3623Lys)
c.10908T>A (p.Asn3636Lys)
c.10827T>A (p.Asn3609Lys)
c.10782T>A (p.Asn3594Lys)
c.10812T>A (p.Asn3604Lys)
c.10788T>A (p.Asn3596Lys)
c.5436T>A (p.Asn1812Lys)
c.5397T>A (p.Asn1799Lys)
c.10911T>A (p.Asn3637Lys)
c.10872T>A (p.Asn3624Lys)
c.10857T>A (p.Asn3619Lys)
c.10818T>A (p.Asn3606Lys)
c.10770T>A (p.Asn3590Lys)
c.10539T>A (p.Asn3513Lys)
c.6576T>A (p.Asn2192Lys)
c.5460T>A (p.Asn1820Lys)
c.10674T>A (p.Asn3558Lys)
7g.92099749T>CCA456454143AKAP9,CYP51A1c.1352-14147A>G (n.1352-14147A>G)
c.10776T>C (p.Asn3592=)
c.10848T>C (p.Asn3616=)
c.3768T>C (p.Asn1256=)
n.124T>C
c.264T>C (p.Asn88=)
n.2854T>C
c.5421T>C (p.Asn1807=)
c.*1656T>C (n.*1656T>C)
c.10752T>C (p.Asn3584=)
n.10974T>C
c.10722T>C (p.Asn3574=)
c.10518T>C (p.Asn3506=)
n.12446T>C
c.10599T>C (p.Asn3533=)
c.10683T>C (p.Asn3561=)
c.4415T>C (n.4415T>C)
c.10635T>C (p.Asn3545=)
c.10815T>C (p.Asn3605=)
c.4536T>C (n.4536T>C)
c.10785T>C (p.Asn3595=)
c.4314T>C (p.Asn1438=)
n.2526T>C
n.576T>C
c.10923T>C (p.Asn3641=)
c.10947T>C (p.Asn3649=)
c.10887T>C (p.Asn3629=)
c.10884T>C (p.Asn3628=)
c.10869T>C (p.Asn3623=)
c.10908T>C (p.Asn3636=)
c.10827T>C (p.Asn3609=)
c.10782T>C (p.Asn3594=)
c.10812T>C (p.Asn3604=)
c.10788T>C (p.Asn3596=)
c.5436T>C (p.Asn1812=)
c.5397T>C (p.Asn1799=)
c.10911T>C (p.Asn3637=)
c.10872T>C (p.Asn3624=)
c.10857T>C (p.Asn3619=)
c.10818T>C (p.Asn3606=)
c.10770T>C (p.Asn3590=)
c.10539T>C (p.Asn3513=)
c.6576T>C (p.Asn2192=)
c.5460T>C (p.Asn1820=)
c.10674T>C (p.Asn3558=)
 gnomAD v4
7g.92099749T>GCA368158576AKAP9,CYP51A1c.1352-14147A>C (n.1352-14147A>C)
c.10776T>G (p.Asn3592Lys)
c.10848T>G (p.Asn3616Lys)
c.3768T>G (p.Asn1256Lys)
n.124T>G
c.264T>G (p.Asn88Lys)
n.2854T>G
c.5421T>G (p.Asn1807Lys)
c.*1656T>G (n.*1656T>G)
c.10752T>G (p.Asn3584Lys)
n.10974T>G
c.10722T>G (p.Asn3574Lys)
c.10518T>G (p.Asn3506Lys)
n.12446T>G
c.10599T>G (p.Asn3533Lys)
c.10683T>G (p.Asn3561Lys)
c.4415T>G (n.4415T>G)
c.10635T>G (p.Asn3545Lys)
c.10815T>G (p.Asn3605Lys)
c.4536T>G (n.4536T>G)
c.10785T>G (p.Asn3595Lys)
c.4314T>G (p.Asn1438Lys)
n.2526T>G
n.576T>G
c.10923T>G (p.Asn3641Lys)
c.10947T>G (p.Asn3649Lys)
c.10887T>G (p.Asn3629Lys)
c.10884T>G (p.Asn3628Lys)
c.10869T>G (p.Asn3623Lys)
c.10908T>G (p.Asn3636Lys)
c.10827T>G (p.Asn3609Lys)
c.10782T>G (p.Asn3594Lys)
c.10812T>G (p.Asn3604Lys)
c.10788T>G (p.Asn3596Lys)
c.5436T>G (p.Asn1812Lys)
c.5397T>G (p.Asn1799Lys)
c.10911T>G (p.Asn3637Lys)
c.10872T>G (p.Asn3624Lys)
c.10857T>G (p.Asn3619Lys)
c.10818T>G (p.Asn3606Lys)
c.10770T>G (p.Asn3590Lys)
c.10539T>G (p.Asn3513Lys)
c.6576T>G (p.Asn2192Lys)
c.5460T>G (p.Asn1820Lys)
c.10674T>G (p.Asn3558Lys)
7g.92099750G>ACA368158579AKAP9,CYP51A1c.1352-14148C>T (n.1352-14148C>T)
c.10777G>A (p.Ala3593Thr)
c.10849G>A (p.Ala3617Thr)
c.3769G>A (p.Ala1257Thr)
n.125G>A
c.265G>A (p.Ala89Thr)
n.2855G>A
c.5422G>A (p.Ala1808Thr)
c.*1657G>A (n.*1657G>A)
c.10753G>A (p.Ala3585Thr)
n.10975G>A
c.10723G>A (p.Ala3575Thr)
c.10519G>A (p.Ala3507Thr)
n.12447G>A
c.10600G>A (p.Ala3534Thr)
c.10684G>A (p.Ala3562Thr)
c.4416G>A (n.4416G>A)
c.10636G>A (p.Ala3546Thr)
c.10816G>A (p.Ala3606Thr)
c.4537G>A (n.4537G>A)
c.10786G>A (p.Ala3596Thr)
c.4315G>A (p.Ala1439Thr)
n.2527G>A
n.577G>A
c.10924G>A (p.Ala3642Thr)
c.10948G>A (p.Ala3650Thr)
c.10888G>A (p.Ala3630Thr)
c.10885G>A (p.Ala3629Thr)
c.10870G>A (p.Ala3624Thr)
c.10909G>A (p.Ala3637Thr)
c.10828G>A (p.Ala3610Thr)
c.10783G>A (p.Ala3595Thr)
c.10813G>A (p.Ala3605Thr)
c.10789G>A (p.Ala3597Thr)
c.5437G>A (p.Ala1813Thr)
c.5398G>A (p.Ala1800Thr)
c.10912G>A (p.Ala3638Thr)
c.10873G>A (p.Ala3625Thr)
c.10858G>A (p.Ala3620Thr)
c.10819G>A (p.Ala3607Thr)
c.10771G>A (p.Ala3591Thr)
c.10540G>A (p.Ala3514Thr)
c.6577G>A (p.Ala2193Thr)
c.5461G>A (p.Ala1821Thr)
c.10675G>A (p.Ala3559Thr)
7g.92099750G>CCA368158580AKAP9,CYP51A1c.1352-14148C>G (n.1352-14148C>G)
c.10777G>C (p.Ala3593Pro)
c.10849G>C (p.Ala3617Pro)
c.3769G>C (p.Ala1257Pro)
n.125G>C
c.265G>C (p.Ala89Pro)
n.2855G>C
c.5422G>C (p.Ala1808Pro)
c.*1657G>C (n.*1657G>C)
c.10753G>C (p.Ala3585Pro)
n.10975G>C
c.10723G>C (p.Ala3575Pro)
c.10519G>C (p.Ala3507Pro)
n.12447G>C
c.10600G>C (p.Ala3534Pro)
c.10684G>C (p.Ala3562Pro)
c.4416G>C (n.4416G>C)
c.10636G>C (p.Ala3546Pro)
c.10816G>C (p.Ala3606Pro)
c.4537G>C (n.4537G>C)
c.10786G>C (p.Ala3596Pro)
c.4315G>C (p.Ala1439Pro)
n.2527G>C
n.577G>C
c.10924G>C (p.Ala3642Pro)
c.10948G>C (p.Ala3650Pro)
c.10888G>C (p.Ala3630Pro)
c.10885G>C (p.Ala3629Pro)
c.10870G>C (p.Ala3624Pro)
c.10909G>C (p.Ala3637Pro)
c.10828G>C (p.Ala3610Pro)
c.10783G>C (p.Ala3595Pro)
c.10813G>C (p.Ala3605Pro)
c.10789G>C (p.Ala3597Pro)
c.5437G>C (p.Ala1813Pro)
c.5398G>C (p.Ala1800Pro)
c.10912G>C (p.Ala3638Pro)
c.10873G>C (p.Ala3625Pro)
c.10858G>C (p.Ala3620Pro)
c.10819G>C (p.Ala3607Pro)
c.10771G>C (p.Ala3591Pro)
c.10540G>C (p.Ala3514Pro)
c.6577G>C (p.Ala2193Pro)
c.5461G>C (p.Ala1821Pro)
c.10675G>C (p.Ala3559Pro)
7g.92099750G>TCA368158581AKAP9,CYP51A1c.1352-14148C>A (n.1352-14148C>A)
c.10777G>T (p.Ala3593Ser)
c.10849G>T (p.Ala3617Ser)
c.3769G>T (p.Ala1257Ser)
n.125G>T
c.265G>T (p.Ala89Ser)
n.2855G>T
c.5422G>T (p.Ala1808Ser)
c.*1657G>T (n.*1657G>T)
c.10753G>T (p.Ala3585Ser)
n.10975G>T
c.10723G>T (p.Ala3575Ser)
c.10519G>T (p.Ala3507Ser)
n.12447G>T
c.10600G>T (p.Ala3534Ser)
c.10684G>T (p.Ala3562Ser)
c.4416G>T (n.4416G>T)
c.10636G>T (p.Ala3546Ser)
c.10816G>T (p.Ala3606Ser)
c.4537G>T (n.4537G>T)
c.10786G>T (p.Ala3596Ser)
c.4315G>T (p.Ala1439Ser)
n.2527G>T
n.577G>T
c.10924G>T (p.Ala3642Ser)
c.10948G>T (p.Ala3650Ser)
c.10888G>T (p.Ala3630Ser)
c.10885G>T (p.Ala3629Ser)
c.10870G>T (p.Ala3624Ser)
c.10909G>T (p.Ala3637Ser)
c.10828G>T (p.Ala3610Ser)
c.10783G>T (p.Ala3595Ser)
c.10813G>T (p.Ala3605Ser)
c.10789G>T (p.Ala3597Ser)
c.5437G>T (p.Ala1813Ser)
c.5398G>T (p.Ala1800Ser)
c.10912G>T (p.Ala3638Ser)
c.10873G>T (p.Ala3625Ser)
c.10858G>T (p.Ala3620Ser)
c.10819G>T (p.Ala3607Ser)
c.10771G>T (p.Ala3591Ser)
c.10540G>T (p.Ala3514Ser)
c.6577G>T (p.Ala2193Ser)
c.5461G>T (p.Ala1821Ser)
c.10675G>T (p.Ala3559Ser)
7g.92099751C>ACA368158583AKAP9,CYP51A1c.1352-14149G>T (n.1352-14149G>T)
c.10778C>A (p.Ala3593Asp)
c.10850C>A (p.Ala3617Asp)
c.3770C>A (p.Ala1257Asp)
n.126C>A
c.266C>A (p.Ala89Asp)
n.2856C>A
c.5423C>A (p.Ala1808Asp)
c.*1658C>A (n.*1658C>A)
c.10754C>A (p.Ala3585Asp)
n.10976C>A
c.10724C>A (p.Ala3575Asp)
c.10520C>A (p.Ala3507Asp)
n.12448C>A
c.10601C>A (p.Ala3534Asp)
c.10685C>A (p.Ala3562Asp)
c.4417C>A (n.4417C>A)
c.10637C>A (p.Ala3546Asp)
c.10817C>A (p.Ala3606Asp)
c.4538C>A (n.4538C>A)
c.10787C>A (p.Ala3596Asp)
c.4316C>A (p.Ala1439Asp)
n.2528C>A
n.578C>A
c.10925C>A (p.Ala3642Asp)
c.10949C>A (p.Ala3650Asp)
c.10889C>A (p.Ala3630Asp)
c.10886C>A (p.Ala3629Asp)
c.10871C>A (p.Ala3624Asp)
c.10910C>A (p.Ala3637Asp)
c.10829C>A (p.Ala3610Asp)
c.10784C>A (p.Ala3595Asp)
c.10814C>A (p.Ala3605Asp)
c.10790C>A (p.Ala3597Asp)
c.5438C>A (p.Ala1813Asp)
c.5399C>A (p.Ala1800Asp)
c.10913C>A (p.Ala3638Asp)
c.10874C>A (p.Ala3625Asp)
c.10859C>A (p.Ala3620Asp)
c.10820C>A (p.Ala3607Asp)
c.10772C>A (p.Ala3591Asp)
c.10541C>A (p.Ala3514Asp)
c.6578C>A (p.Ala2193Asp)
c.5462C>A (p.Ala1821Asp)
c.10676C>A (p.Ala3559Asp)
7g.92099751C>GCA368158585AKAP9,CYP51A1c.1352-14149G>C (n.1352-14149G>C)
c.10778C>G (p.Ala3593Gly)
c.10850C>G (p.Ala3617Gly)
c.3770C>G (p.Ala1257Gly)
n.126C>G
c.266C>G (p.Ala89Gly)
n.2856C>G
c.5423C>G (p.Ala1808Gly)
c.*1658C>G (n.*1658C>G)
c.10754C>G (p.Ala3585Gly)
n.10976C>G
c.10724C>G (p.Ala3575Gly)
c.10520C>G (p.Ala3507Gly)
n.12448C>G
c.10601C>G (p.Ala3534Gly)
c.10685C>G (p.Ala3562Gly)
c.4417C>G (n.4417C>G)
c.10637C>G (p.Ala3546Gly)
c.10817C>G (p.Ala3606Gly)
c.4538C>G (n.4538C>G)
c.10787C>G (p.Ala3596Gly)
c.4316C>G (p.Ala1439Gly)
n.2528C>G
n.578C>G
c.10925C>G (p.Ala3642Gly)
c.10949C>G (p.Ala3650Gly)
c.10889C>G (p.Ala3630Gly)
c.10886C>G (p.Ala3629Gly)
c.10871C>G (p.Ala3624Gly)
c.10910C>G (p.Ala3637Gly)
c.10829C>G (p.Ala3610Gly)
c.10784C>G (p.Ala3595Gly)
c.10814C>G (p.Ala3605Gly)
c.10790C>G (p.Ala3597Gly)
c.5438C>G (p.Ala1813Gly)
c.5399C>G (p.Ala1800Gly)
c.10913C>G (p.Ala3638Gly)
c.10874C>G (p.Ala3625Gly)
c.10859C>G (p.Ala3620Gly)
c.10820C>G (p.Ala3607Gly)
c.10772C>G (p.Ala3591Gly)
c.10541C>G (p.Ala3514Gly)
c.6578C>G (p.Ala2193Gly)
c.5462C>G (p.Ala1821Gly)
c.10676C>G (p.Ala3559Gly)
7g.92099751C>TCA368158586AKAP9,CYP51A1c.1352-14149G>A (n.1352-14149G>A)
c.10778C>T (p.Ala3593Val)
c.10850C>T (p.Ala3617Val)
c.3770C>T (p.Ala1257Val)
n.126C>T
c.266C>T (p.Ala89Val)
n.2856C>T
c.5423C>T (p.Ala1808Val)
c.*1658C>T (n.*1658C>T)
c.10754C>T (p.Ala3585Val)
n.10976C>T
c.10724C>T (p.Ala3575Val)
c.10520C>T (p.Ala3507Val)
n.12448C>T
c.10601C>T (p.Ala3534Val)
c.10685C>T (p.Ala3562Val)
c.4417C>T (n.4417C>T)
c.10637C>T (p.Ala3546Val)
c.10817C>T (p.Ala3606Val)
c.4538C>T (n.4538C>T)
c.10787C>T (p.Ala3596Val)
c.4316C>T (p.Ala1439Val)
n.2528C>T
n.578C>T
c.10925C>T (p.Ala3642Val)
c.10949C>T (p.Ala3650Val)
c.10889C>T (p.Ala3630Val)
c.10886C>T (p.Ala3629Val)
c.10871C>T (p.Ala3624Val)
c.10910C>T (p.Ala3637Val)
c.10829C>T (p.Ala3610Val)
c.10784C>T (p.Ala3595Val)
c.10814C>T (p.Ala3605Val)
c.10790C>T (p.Ala3597Val)
c.5438C>T (p.Ala1813Val)
c.5399C>T (p.Ala1800Val)
c.10913C>T (p.Ala3638Val)
c.10874C>T (p.Ala3625Val)
c.10859C>T (p.Ala3620Val)
c.10820C>T (p.Ala3607Val)
c.10772C>T (p.Ala3591Val)
c.10541C>T (p.Ala3514Val)
c.6578C>T (p.Ala2193Val)
c.5462C>T (p.Ala1821Val)
c.10676C>T (p.Ala3559Val)
7g.92099752T>ACA456454144AKAP9,CYP51A1c.1352-14150A>T (n.1352-14150A>T)
c.10779T>A (p.Ala3593=)
c.10851T>A (p.Ala3617=)
c.3771T>A (p.Ala1257=)
n.127T>A
c.267T>A (p.Ala89=)
n.2857T>A
c.5424T>A (p.Ala1808=)
c.*1659T>A (n.*1659T>A)
c.10755T>A (p.Ala3585=)
n.10977T>A
c.10725T>A (p.Ala3575=)
c.10521T>A (p.Ala3507=)
n.12449T>A
c.10602T>A (p.Ala3534=)
c.10686T>A (p.Ala3562=)
c.4418T>A (n.4418T>A)
c.10638T>A (p.Ala3546=)
c.10818T>A (p.Ala3606=)
c.4539T>A (n.4539T>A)
c.10788T>A (p.Ala3596=)
c.4317T>A (p.Ala1439=)
n.2529T>A
n.579T>A
c.10926T>A (p.Ala3642=)
c.10950T>A (p.Ala3650=)
c.10890T>A (p.Ala3630=)
c.10887T>A (p.Ala3629=)
c.10872T>A (p.Ala3624=)
c.10911T>A (p.Ala3637=)
c.10830T>A (p.Ala3610=)
c.10785T>A (p.Ala3595=)
c.10815T>A (p.Ala3605=)
c.10791T>A (p.Ala3597=)
c.5439T>A (p.Ala1813=)
c.5400T>A (p.Ala1800=)
c.10914T>A (p.Ala3638=)
c.10875T>A (p.Ala3625=)
c.10860T>A (p.Ala3620=)
c.10821T>A (p.Ala3607=)
c.10773T>A (p.Ala3591=)
c.10542T>A (p.Ala3514=)
c.6579T>A (p.Ala2193=)
c.5463T>A (p.Ala1821=)
c.10677T>A (p.Ala3559=)
7g.92099752T>CCA456454146AKAP9,CYP51A1c.1352-14150A>G (n.1352-14150A>G)
c.10779T>C (p.Ala3593=)
c.10851T>C (p.Ala3617=)
c.3771T>C (p.Ala1257=)
n.127T>C
c.267T>C (p.Ala89=)
n.2857T>C
c.5424T>C (p.Ala1808=)
c.*1659T>C (n.*1659T>C)
c.10755T>C (p.Ala3585=)
n.10977T>C
c.10725T>C (p.Ala3575=)
c.10521T>C (p.Ala3507=)
n.12449T>C
c.10602T>C (p.Ala3534=)
c.10686T>C (p.Ala3562=)
c.4418T>C (n.4418T>C)
c.10638T>C (p.Ala3546=)
c.10818T>C (p.Ala3606=)
c.4539T>C (n.4539T>C)
c.10788T>C (p.Ala3596=)
c.4317T>C (p.Ala1439=)
n.2529T>C
n.579T>C
c.10926T>C (p.Ala3642=)
c.10950T>C (p.Ala3650=)
c.10890T>C (p.Ala3630=)
c.10887T>C (p.Ala3629=)
c.10872T>C (p.Ala3624=)
c.10911T>C (p.Ala3637=)
c.10830T>C (p.Ala3610=)
c.10785T>C (p.Ala3595=)
c.10815T>C (p.Ala3605=)
c.10791T>C (p.Ala3597=)
c.5439T>C (p.Ala1813=)
c.5400T>C (p.Ala1800=)
c.10914T>C (p.Ala3638=)
c.10875T>C (p.Ala3625=)
c.10860T>C (p.Ala3620=)
c.10821T>C (p.Ala3607=)
c.10773T>C (p.Ala3591=)
c.10542T>C (p.Ala3514=)
c.6579T>C (p.Ala2193=)
c.5463T>C (p.Ala1821=)
c.10677T>C (p.Ala3559=)
7g.92099752T>GCA456454145AKAP9,CYP51A1c.1352-14150A>C (n.1352-14150A>C)
c.10779T>G (p.Ala3593=)
c.10851T>G (p.Ala3617=)
c.3771T>G (p.Ala1257=)
n.127T>G
c.267T>G (p.Ala89=)
n.2857T>G
c.5424T>G (p.Ala1808=)
c.*1659T>G (n.*1659T>G)
c.10755T>G (p.Ala3585=)
n.10977T>G
c.10725T>G (p.Ala3575=)
c.10521T>G (p.Ala3507=)
n.12449T>G
c.10602T>G (p.Ala3534=)
c.10686T>G (p.Ala3562=)
c.4418T>G (n.4418T>G)
c.10638T>G (p.Ala3546=)
c.10818T>G (p.Ala3606=)
c.4539T>G (n.4539T>G)
c.10788T>G (p.Ala3596=)
c.4317T>G (p.Ala1439=)
n.2529T>G
n.579T>G
c.10926T>G (p.Ala3642=)
c.10950T>G (p.Ala3650=)
c.10890T>G (p.Ala3630=)
c.10887T>G (p.Ala3629=)
c.10872T>G (p.Ala3624=)
c.10911T>G (p.Ala3637=)
c.10830T>G (p.Ala3610=)
c.10785T>G (p.Ala3595=)
c.10815T>G (p.Ala3605=)
c.10791T>G (p.Ala3597=)
c.5439T>G (p.Ala1813=)
c.5400T>G (p.Ala1800=)
c.10914T>G (p.Ala3638=)
c.10875T>G (p.Ala3625=)
c.10860T>G (p.Ala3620=)
c.10821T>G (p.Ala3607=)
c.10773T>G (p.Ala3591=)
c.10542T>G (p.Ala3514=)
c.6579T>G (p.Ala2193=)
c.5463T>G (p.Ala1821=)
c.10677T>G (p.Ala3559=)
7g.92099753G>ACA368158588AKAP9,CYP51A1c.1352-14151C>T (n.1352-14151C>T)
c.10780G>A (p.Glu3594Lys)
c.10852G>A (p.Glu3618Lys)
c.3772G>A (p.Glu1258Lys)
n.128G>A
c.268G>A (p.Glu90Lys)
n.2858G>A
c.5425G>A (p.Glu1809Lys)
c.*1660G>A (n.*1660G>A)
c.10756G>A (p.Glu3586Lys)
n.10978G>A
c.10726G>A (p.Glu3576Lys)
c.10522G>A (p.Glu3508Lys)
n.12450G>A
c.10603G>A (p.Glu3535Lys)
c.10687G>A (p.Glu3563Lys)
c.4419G>A (n.4419G>A)
c.10639G>A (p.Glu3547Lys)
c.10819G>A (p.Glu3607Lys)
c.4540G>A (n.4540G>A)
c.10789G>A (p.Glu3597Lys)
c.4318G>A (p.Glu1440Lys)
n.2530G>A
n.580G>A
c.10927G>A (p.Glu3643Lys)
c.10951G>A (p.Glu3651Lys)
c.10891G>A (p.Glu3631Lys)
c.10888G>A (p.Glu3630Lys)
c.10873G>A (p.Glu3625Lys)
c.10912G>A (p.Glu3638Lys)
c.10831G>A (p.Glu3611Lys)
c.10786G>A (p.Glu3596Lys)
c.10816G>A (p.Glu3606Lys)
c.10792G>A (p.Glu3598Lys)
c.5440G>A (p.Glu1814Lys)
c.5401G>A (p.Glu1801Lys)
c.10915G>A (p.Glu3639Lys)
c.10876G>A (p.Glu3626Lys)
c.10861G>A (p.Glu3621Lys)
c.10822G>A (p.Glu3608Lys)
c.10774G>A (p.Glu3592Lys)
c.10543G>A (p.Glu3515Lys)
c.6580G>A (p.Glu2194Lys)
c.5464G>A (p.Glu1822Lys)
c.10678G>A (p.Glu3560Lys)
7g.92099753G>CCA368158589AKAP9,CYP51A1c.1352-14151C>G (n.1352-14151C>G)
c.10780G>C (p.Glu3594Gln)
c.10852G>C (p.Glu3618Gln)
c.3772G>C (p.Glu1258Gln)
n.128G>C
c.268G>C (p.Glu90Gln)
n.2858G>C
c.5425G>C (p.Glu1809Gln)
c.*1660G>C (n.*1660G>C)
c.10756G>C (p.Glu3586Gln)
n.10978G>C
c.10726G>C (p.Glu3576Gln)
c.10522G>C (p.Glu3508Gln)
n.12450G>C
c.10603G>C (p.Glu3535Gln)
c.10687G>C (p.Glu3563Gln)
c.4419G>C (n.4419G>C)
c.10639G>C (p.Glu3547Gln)
c.10819G>C (p.Glu3607Gln)
c.4540G>C (n.4540G>C)
c.10789G>C (p.Glu3597Gln)
c.4318G>C (p.Glu1440Gln)
n.2530G>C
n.580G>C
c.10927G>C (p.Glu3643Gln)
c.10951G>C (p.Glu3651Gln)
c.10891G>C (p.Glu3631Gln)
c.10888G>C (p.Glu3630Gln)
c.10873G>C (p.Glu3625Gln)
c.10912G>C (p.Glu3638Gln)
c.10831G>C (p.Glu3611Gln)
c.10786G>C (p.Glu3596Gln)
c.10816G>C (p.Glu3606Gln)
c.10792G>C (p.Glu3598Gln)
c.5440G>C (p.Glu1814Gln)
c.5401G>C (p.Glu1801Gln)
c.10915G>C (p.Glu3639Gln)
c.10876G>C (p.Glu3626Gln)
c.10861G>C (p.Glu3621Gln)
c.10822G>C (p.Glu3608Gln)
c.10774G>C (p.Glu3592Gln)
c.10543G>C (p.Glu3515Gln)
c.6580G>C (p.Glu2194Gln)
c.5464G>C (p.Glu1822Gln)
c.10678G>C (p.Glu3560Gln)
7g.92099753G>TCA368158591AKAP9,CYP51A1c.1352-14151C>A (n.1352-14151C>A)
c.10780G>T (p.Glu3594Ter)
c.10852G>T (p.Glu3618Ter)
c.3772G>T (p.Glu1258Ter)
n.128G>T
c.268G>T (p.Glu90Ter)
n.2858G>T
c.5425G>T (p.Glu1809Ter)
c.*1660G>T (n.*1660G>T)
c.10756G>T (p.Glu3586Ter)
n.10978G>T
c.10726G>T (p.Glu3576Ter)
c.10522G>T (p.Glu3508Ter)
n.12450G>T
c.10603G>T (p.Glu3535Ter)
c.10687G>T (p.Glu3563Ter)
c.4419G>T (n.4419G>T)
c.10639G>T (p.Glu3547Ter)
c.10819G>T (p.Glu3607Ter)
c.4540G>T (n.4540G>T)
c.10789G>T (p.Glu3597Ter)
c.4318G>T (p.Glu1440Ter)
n.2530G>T
n.580G>T
c.10927G>T (p.Glu3643Ter)
c.10951G>T (p.Glu3651Ter)
c.10891G>T (p.Glu3631Ter)
c.10888G>T (p.Glu3630Ter)
c.10873G>T (p.Glu3625Ter)
c.10912G>T (p.Glu3638Ter)
c.10831G>T (p.Glu3611Ter)
c.10786G>T (p.Glu3596Ter)
c.10816G>T (p.Glu3606Ter)
c.10792G>T (p.Glu3598Ter)
c.5440G>T (p.Glu1814Ter)
c.5401G>T (p.Glu1801Ter)
c.10915G>T (p.Glu3639Ter)
c.10876G>T (p.Glu3626Ter)
c.10861G>T (p.Glu3621Ter)
c.10822G>T (p.Glu3608Ter)
c.10774G>T (p.Glu3592Ter)
c.10543G>T (p.Glu3515Ter)
c.6580G>T (p.Glu2194Ter)
c.5464G>T (p.Glu1822Ter)
c.10678G>T (p.Glu3560Ter)
7g.92099754A>CCA368158594AKAP9,CYP51A1c.1352-14152T>G (n.1352-14152T>G)
c.10781A>C (p.Glu3594Ala)
c.10853A>C (p.Glu3618Ala)
c.3773A>C (p.Glu1258Ala)
n.129A>C
c.269A>C (p.Glu90Ala)
n.2859A>C
c.5426A>C (p.Glu1809Ala)
c.*1661A>C (n.*1661A>C)
c.10757A>C (p.Glu3586Ala)
n.10979A>C
c.10727A>C (p.Glu3576Ala)
c.10523A>C (p.Glu3508Ala)
n.12451A>C
c.10604A>C (p.Glu3535Ala)
c.10688A>C (p.Glu3563Ala)
c.4420A>C (n.4420A>C)
c.10640A>C (p.Glu3547Ala)
c.10820A>C (p.Glu3607Ala)
c.4541A>C (n.4541A>C)
c.10790A>C (p.Glu3597Ala)
c.4319A>C (p.Glu1440Ala)
n.2531A>C
n.581A>C
c.10928A>C (p.Glu3643Ala)
c.10952A>C (p.Glu3651Ala)
c.10892A>C (p.Glu3631Ala)
c.10889A>C (p.Glu3630Ala)
c.10874A>C (p.Glu3625Ala)
c.10913A>C (p.Glu3638Ala)
c.10832A>C (p.Glu3611Ala)
c.10787A>C (p.Glu3596Ala)
c.10817A>C (p.Glu3606Ala)
c.10793A>C (p.Glu3598Ala)
c.5441A>C (p.Glu1814Ala)
c.5402A>C (p.Glu1801Ala)
c.10916A>C (p.Glu3639Ala)
c.10877A>C (p.Glu3626Ala)
c.10862A>C (p.Glu3621Ala)
c.10823A>C (p.Glu3608Ala)
c.10775A>C (p.Glu3592Ala)
c.10544A>C (p.Glu3515Ala)
c.6581A>C (p.Glu2194Ala)
c.5465A>C (p.Glu1822Ala)
c.10679A>C (p.Glu3560Ala)
7g.92099754A>GCA368158598AKAP9,CYP51A1c.1352-14152T>C (n.1352-14152T>C)
c.10781A>G (p.Glu3594Gly)
c.10853A>G (p.Glu3618Gly)
c.3773A>G (p.Glu1258Gly)
n.129A>G
c.269A>G (p.Glu90Gly)
n.2859A>G
c.5426A>G (p.Glu1809Gly)
c.*1661A>G (n.*1661A>G)
c.10757A>G (p.Glu3586Gly)
n.10979A>G
c.10727A>G (p.Glu3576Gly)
c.10523A>G (p.Glu3508Gly)
n.12451A>G
c.10604A>G (p.Glu3535Gly)
c.10688A>G (p.Glu3563Gly)
c.4420A>G (n.4420A>G)
c.10640A>G (p.Glu3547Gly)
c.10820A>G (p.Glu3607Gly)
c.4541A>G (n.4541A>G)
c.10790A>G (p.Glu3597Gly)
c.4319A>G (p.Glu1440Gly)
n.2531A>G
n.581A>G
c.10928A>G (p.Glu3643Gly)
c.10952A>G (p.Glu3651Gly)
c.10892A>G (p.Glu3631Gly)
c.10889A>G (p.Glu3630Gly)
c.10874A>G (p.Glu3625Gly)
c.10913A>G (p.Glu3638Gly)
c.10832A>G (p.Glu3611Gly)
c.10787A>G (p.Glu3596Gly)
c.10817A>G (p.Glu3606Gly)
c.10793A>G (p.Glu3598Gly)
c.5441A>G (p.Glu1814Gly)
c.5402A>G (p.Glu1801Gly)
c.10916A>G (p.Glu3639Gly)
c.10877A>G (p.Glu3626Gly)
c.10862A>G (p.Glu3621Gly)
c.10823A>G (p.Glu3608Gly)
c.10775A>G (p.Glu3592Gly)
c.10544A>G (p.Glu3515Gly)
c.6581A>G (p.Glu2194Gly)
c.5465A>G (p.Glu1822Gly)
c.10679A>G (p.Glu3560Gly)
7g.92099754A>TCA368158595AKAP9,CYP51A1c.1352-14152T>A (n.1352-14152T>A)
c.10781A>T (p.Glu3594Val)
c.10853A>T (p.Glu3618Val)
c.3773A>T (p.Glu1258Val)
n.129A>T
c.269A>T (p.Glu90Val)
n.2859A>T
c.5426A>T (p.Glu1809Val)
c.*1661A>T (n.*1661A>T)
c.10757A>T (p.Glu3586Val)
n.10979A>T
c.10727A>T (p.Glu3576Val)
c.10523A>T (p.Glu3508Val)
n.12451A>T
c.10604A>T (p.Glu3535Val)
c.10688A>T (p.Glu3563Val)
c.4420A>T (n.4420A>T)
c.10640A>T (p.Glu3547Val)
c.10820A>T (p.Glu3607Val)
c.4541A>T (n.4541A>T)
c.10790A>T (p.Glu3597Val)
c.4319A>T (p.Glu1440Val)
n.2531A>T
n.581A>T
c.10928A>T (p.Glu3643Val)
c.10952A>T (p.Glu3651Val)
c.10892A>T (p.Glu3631Val)
c.10889A>T (p.Glu3630Val)
c.10874A>T (p.Glu3625Val)
c.10913A>T (p.Glu3638Val)
c.10832A>T (p.Glu3611Val)
c.10787A>T (p.Glu3596Val)
c.10817A>T (p.Glu3606Val)
c.10793A>T (p.Glu3598Val)
c.5441A>T (p.Glu1814Val)
c.5402A>T (p.Glu1801Val)
c.10916A>T (p.Glu3639Val)
c.10877A>T (p.Glu3626Val)
c.10862A>T (p.Glu3621Val)
c.10823A>T (p.Glu3608Val)
c.10775A>T (p.Glu3592Val)
c.10544A>T (p.Glu3515Val)
c.6581A>T (p.Glu2194Val)
c.5465A>T (p.Glu1822Val)
c.10679A>T (p.Glu3560Val)
7g.92099755G>ACA456454147AKAP9,CYP51A1c.1352-14153C>T (n.1352-14153C>T)
c.10782G>A (p.Glu3594=)
c.10854G>A (p.Glu3618=)
c.3774G>A (p.Glu1258=)
n.130G>A
c.270G>A (p.Glu90=)
n.2860G>A
c.5427G>A (p.Glu1809=)
c.*1662G>A (n.*1662G>A)
c.10758G>A (p.Glu3586=)
n.10980G>A
c.10728G>A (p.Glu3576=)
c.10524G>A (p.Glu3508=)
n.12452G>A
c.10605G>A (p.Glu3535=)
c.10689G>A (p.Glu3563=)
c.4421G>A (n.4421G>A)
c.10641G>A (p.Glu3547=)
c.10821G>A (p.Glu3607=)
c.4542G>A (n.4542G>A)
c.10791G>A (p.Glu3597=)
c.4320G>A (p.Glu1440=)
n.2532G>A
n.582G>A
c.10929G>A (p.Glu3643=)
c.10953G>A (p.Glu3651=)
c.10893G>A (p.Glu3631=)
c.10890G>A (p.Glu3630=)
c.10875G>A (p.Glu3625=)
c.10914G>A (p.Glu3638=)
c.10833G>A (p.Glu3611=)
c.10788G>A (p.Glu3596=)
c.10818G>A (p.Glu3606=)
c.10794G>A (p.Glu3598=)
c.5442G>A (p.Glu1814=)
c.5403G>A (p.Glu1801=)
c.10917G>A (p.Glu3639=)
c.10878G>A (p.Glu3626=)
c.10863G>A (p.Glu3621=)
c.10824G>A (p.Glu3608=)
c.10776G>A (p.Glu3592=)
c.10545G>A (p.Glu3515=)
c.6582G>A (p.Glu2194=)
c.5466G>A (p.Glu1822=)
c.10680G>A (p.Glu3560=)
7g.92099755G>CCA368158600AKAP9,CYP51A1c.1352-14153C>G (n.1352-14153C>G)
c.10782G>C (p.Glu3594Asp)
c.10854G>C (p.Glu3618Asp)
c.3774G>C (p.Glu1258Asp)
n.130G>C
c.270G>C (p.Glu90Asp)
n.2860G>C
c.5427G>C (p.Glu1809Asp)
c.*1662G>C (n.*1662G>C)
c.10758G>C (p.Glu3586Asp)
n.10980G>C
c.10728G>C (p.Glu3576Asp)
c.10524G>C (p.Glu3508Asp)
n.12452G>C
c.10605G>C (p.Glu3535Asp)
c.10689G>C (p.Glu3563Asp)
c.4421G>C (n.4421G>C)
c.10641G>C (p.Glu3547Asp)
c.10821G>C (p.Glu3607Asp)
c.4542G>C (n.4542G>C)
c.10791G>C (p.Glu3597Asp)
c.4320G>C (p.Glu1440Asp)
n.2532G>C
n.582G>C
c.10929G>C (p.Glu3643Asp)
c.10953G>C (p.Glu3651Asp)
c.10893G>C (p.Glu3631Asp)
c.10890G>C (p.Glu3630Asp)
c.10875G>C (p.Glu3625Asp)
c.10914G>C (p.Glu3638Asp)
c.10833G>C (p.Glu3611Asp)
c.10788G>C (p.Glu3596Asp)
c.10818G>C (p.Glu3606Asp)
c.10794G>C (p.Glu3598Asp)
c.5442G>C (p.Glu1814Asp)
c.5403G>C (p.Glu1801Asp)
c.10917G>C (p.Glu3639Asp)
c.10878G>C (p.Glu3626Asp)
c.10863G>C (p.Glu3621Asp)
c.10824G>C (p.Glu3608Asp)
c.10776G>C (p.Glu3592Asp)
c.10545G>C (p.Glu3515Asp)
c.6582G>C (p.Glu2194Asp)
c.5466G>C (p.Glu1822Asp)
c.10680G>C (p.Glu3560Asp)
7g.92099755G>TCA368158601AKAP9,CYP51A1c.1352-14153C>A (n.1352-14153C>A)
c.10782G>T (p.Glu3594Asp)
c.10854G>T (p.Glu3618Asp)
c.3774G>T (p.Glu1258Asp)
n.130G>T
c.270G>T (p.Glu90Asp)
n.2860G>T
c.5427G>T (p.Glu1809Asp)
c.*1662G>T (n.*1662G>T)
c.10758G>T (p.Glu3586Asp)
n.10980G>T
c.10728G>T (p.Glu3576Asp)
c.10524G>T (p.Glu3508Asp)
n.12452G>T
c.10605G>T (p.Glu3535Asp)
c.10689G>T (p.Glu3563Asp)
c.4421G>T (n.4421G>T)
c.10641G>T (p.Glu3547Asp)
c.10821G>T (p.Glu3607Asp)
c.4542G>T (n.4542G>T)
c.10791G>T (p.Glu3597Asp)
c.4320G>T (p.Glu1440Asp)
n.2532G>T
n.582G>T
c.10929G>T (p.Glu3643Asp)
c.10953G>T (p.Glu3651Asp)
c.10893G>T (p.Glu3631Asp)
c.10890G>T (p.Glu3630Asp)
c.10875G>T (p.Glu3625Asp)
c.10914G>T (p.Glu3638Asp)
c.10833G>T (p.Glu3611Asp)
c.10788G>T (p.Glu3596Asp)
c.10818G>T (p.Glu3606Asp)
c.10794G>T (p.Glu3598Asp)
c.5442G>T (p.Glu1814Asp)
c.5403G>T (p.Glu1801Asp)
c.10917G>T (p.Glu3639Asp)
c.10878G>T (p.Glu3626Asp)
c.10863G>T (p.Glu3621Asp)
c.10824G>T (p.Glu3608Asp)
c.10776G>T (p.Glu3592Asp)
c.10545G>T (p.Glu3515Asp)
c.6582G>T (p.Glu2194Asp)
c.5466G>T (p.Glu1822Asp)
c.10680G>T (p.Glu3560Asp)
7g.92099756C>ACA368158602AKAP9,CYP51A1c.1352-14154G>T (n.1352-14154G>T)
c.10783C>A (p.Leu3595Met)
c.10855C>A (p.Leu3619Met)
c.3775C>A (p.Leu1259Met)
n.131C>A
c.271C>A (p.Leu91Met)
n.2861C>A
c.5428C>A (p.Leu1810Met)
c.*1663C>A (n.*1663C>A)
c.10759C>A (p.Leu3587Met)
n.10981C>A
c.10729C>A (p.Leu3577Met)
c.10525C>A (p.Leu3509Met)
n.12453C>A
c.10606C>A (p.Leu3536Met)
c.10690C>A (p.Leu3564Met)
c.4422C>A (n.4422C>A)
c.10642C>A (p.Leu3548Met)
c.10822C>A (p.Leu3608Met)
c.4543C>A (n.4543C>A)
c.10792C>A (p.Leu3598Met)
c.4321C>A (p.Leu1441Met)
n.2533C>A
n.583C>A
c.10930C>A (p.Leu3644Met)
c.10954C>A (p.Leu3652Met)
c.10894C>A (p.Leu3632Met)
c.10891C>A (p.Leu3631Met)
c.10876C>A (p.Leu3626Met)
c.10915C>A (p.Leu3639Met)
c.10834C>A (p.Leu3612Met)
c.10789C>A (p.Leu3597Met)
c.10819C>A (p.Leu3607Met)
c.10795C>A (p.Leu3599Met)
c.5443C>A (p.Leu1815Met)
c.5404C>A (p.Leu1802Met)
c.10918C>A (p.Leu3640Met)
c.10879C>A (p.Leu3627Met)
c.10864C>A (p.Leu3622Met)
c.10825C>A (p.Leu3609Met)
c.10777C>A (p.Leu3593Met)
c.10546C>A (p.Leu3516Met)
c.6583C>A (p.Leu2195Met)
c.5467C>A (p.Leu1823Met)
c.10681C>A (p.Leu3561Met)
7g.92099756C=CA1725766331AKAP9,CYP51A1c.1352-14154G= (n.1352-14154G=)
c.10783C= (p.Leu3595=)
c.10855C= (p.Leu3619=)
c.3775C= (p.Leu1259=)
n.131C=
c.271C= (p.Leu91=)
n.2861C=
c.5428C= (p.Leu1810=)
c.*1663C= (n.*1663C=)
c.10759C= (p.Leu3587=)
n.10981C=
c.10729C= (p.Leu3577=)
c.10525C= (p.Leu3509=)
n.12453C=
c.10606C= (p.Leu3536=)
c.10690C= (p.Leu3564=)
c.4422C= (n.4422C=)
c.10642C= (p.Leu3548=)
c.10822C= (p.Leu3608=)
c.4543C= (n.4543C=)
c.10792C= (p.Leu3598=)
c.4321C= (p.Leu1441=)
n.2533C=
n.583C=
c.10930C= (p.Leu3644=)
c.10954C= (p.Leu3652=)
c.10894C= (p.Leu3632=)
c.10891C= (p.Leu3631=)
c.10876C= (p.Leu3626=)
c.10915C= (p.Leu3639=)
c.10834C= (p.Leu3612=)
c.10789C= (p.Leu3597=)
c.10819C= (p.Leu3607=)
c.10795C= (p.Leu3599=)
c.5443C= (p.Leu1815=)
c.5404C= (p.Leu1802=)
c.10918C= (p.Leu3640=)
c.10879C= (p.Leu3627=)
c.10864C= (p.Leu3622=)
c.10825C= (p.Leu3609=)
c.10777C= (p.Leu3593=)
c.10546C= (p.Leu3516=)
c.6583C= (p.Leu2195=)
c.5467C= (p.Leu1823=)
c.10681C= (p.Leu3561=)
7g.92099756C>GCA368158603AKAP9,CYP51A1c.1352-14154G>C (n.1352-14154G>C)
c.10783C>G (p.Leu3595Val)
c.10855C>G (p.Leu3619Val)
c.3775C>G (p.Leu1259Val)
n.131C>G
c.271C>G (p.Leu91Val)
n.2861C>G
c.5428C>G (p.Leu1810Val)
c.*1663C>G (n.*1663C>G)
c.10759C>G (p.Leu3587Val)
n.10981C>G
c.10729C>G (p.Leu3577Val)
c.10525C>G (p.Leu3509Val)
n.12453C>G
c.10606C>G (p.Leu3536Val)
c.10690C>G (p.Leu3564Val)
c.4422C>G (n.4422C>G)
c.10642C>G (p.Leu3548Val)
c.10822C>G (p.Leu3608Val)
c.4543C>G (n.4543C>G)
c.10792C>G (p.Leu3598Val)
c.4321C>G (p.Leu1441Val)
n.2533C>G
n.583C>G
c.10930C>G (p.Leu3644Val)
c.10954C>G (p.Leu3652Val)
c.10894C>G (p.Leu3632Val)
c.10891C>G (p.Leu3631Val)
c.10876C>G (p.Leu3626Val)
c.10915C>G (p.Leu3639Val)
c.10834C>G (p.Leu3612Val)
c.10789C>G (p.Leu3597Val)
c.10819C>G (p.Leu3607Val)
c.10795C>G (p.Leu3599Val)
c.5443C>G (p.Leu1815Val)
c.5404C>G (p.Leu1802Val)
c.10918C>G (p.Leu3640Val)
c.10879C>G (p.Leu3627Val)
c.10864C>G (p.Leu3622Val)
c.10825C>G (p.Leu3609Val)
c.10777C>G (p.Leu3593Val)
c.10546C>G (p.Leu3516Val)
c.6583C>G (p.Leu2195Val)
c.5467C>G (p.Leu1823Val)
c.10681C>G (p.Leu3561Val)
7g.92099756C>TCA161898740AKAP9,CYP51A1c.1352-14154G>A (n.1352-14154G>A)
c.10783C>T (p.Leu3595=)
c.10855C>T (p.Leu3619=)
c.3775C>T (p.Leu1259=)
n.131C>T
c.271C>T (p.Leu91=)
n.2861C>T
c.5428C>T (p.Leu1810=)
c.*1663C>T (n.*1663C>T)
c.10759C>T (p.Leu3587=)
n.10981C>T
c.10729C>T (p.Leu3577=)
c.10525C>T (p.Leu3509=)
n.12453C>T
c.10606C>T (p.Leu3536=)
c.10690C>T (p.Leu3564=)
c.4422C>T (n.4422C>T)
c.10642C>T (p.Leu3548=)
c.10822C>T (p.Leu3608=)
c.4543C>T (n.4543C>T)
c.10792C>T (p.Leu3598=)
c.4321C>T (p.Leu1441=)
n.2533C>T
n.583C>T
c.10930C>T (p.Leu3644=)
c.10954C>T (p.Leu3652=)
c.10894C>T (p.Leu3632=)
c.10891C>T (p.Leu3631=)
c.10876C>T (p.Leu3626=)
c.10915C>T (p.Leu3639=)
c.10834C>T (p.Leu3612=)
c.10789C>T (p.Leu3597=)
c.10819C>T (p.Leu3607=)
c.10795C>T (p.Leu3599=)
c.5443C>T (p.Leu1815=)
c.5404C>T (p.Leu1802=)
c.10918C>T (p.Leu3640=)
c.10879C>T (p.Leu3627=)
c.10864C>T (p.Leu3622=)
c.10825C>T (p.Leu3609=)
c.10777C>T (p.Leu3593=)
c.10546C>T (p.Leu3516=)
c.6583C>T (p.Leu2195=)
c.5467C>T (p.Leu1823=)
c.10681C>T (p.Leu3561=)
 dbSNP gnomAD v4
7g.92099757T>ACA368158604AKAP9,CYP51A1c.1352-14155A>T (n.1352-14155A>T)
c.10784T>A (p.Leu3595Gln)
c.10856T>A (p.Leu3619Gln)
c.3776T>A (p.Leu1259Gln)
n.132T>A
c.272T>A (p.Leu91Gln)
n.2862T>A
c.5429T>A (p.Leu1810Gln)
c.*1664T>A (n.*1664T>A)
c.10760T>A (p.Leu3587Gln)
n.10982T>A
c.10730T>A (p.Leu3577Gln)
c.10526T>A (p.Leu3509Gln)
n.12454T>A
c.10607T>A (p.Leu3536Gln)
c.10691T>A (p.Leu3564Gln)
c.4423T>A (n.4423T>A)
c.10643T>A (p.Leu3548Gln)
c.10823T>A (p.Leu3608Gln)
c.4544T>A (n.4544T>A)
c.10793T>A (p.Leu3598Gln)
c.4322T>A (p.Leu1441Gln)
n.2534T>A
n.584T>A
c.10931T>A (p.Leu3644Gln)
c.10955T>A (p.Leu3652Gln)
c.10895T>A (p.Leu3632Gln)
c.10892T>A (p.Leu3631Gln)
c.10877T>A (p.Leu3626Gln)
c.10916T>A (p.Leu3639Gln)
c.10835T>A (p.Leu3612Gln)
c.10790T>A (p.Leu3597Gln)
c.10820T>A (p.Leu3607Gln)
c.10796T>A (p.Leu3599Gln)
c.5444T>A (p.Leu1815Gln)
c.5405T>A (p.Leu1802Gln)
c.10919T>A (p.Leu3640Gln)
c.10880T>A (p.Leu3627Gln)
c.10865T>A (p.Leu3622Gln)
c.10826T>A (p.Leu3609Gln)
c.10778T>A (p.Leu3593Gln)
c.10547T>A (p.Leu3516Gln)
c.6584T>A (p.Leu2195Gln)
c.5468T>A (p.Leu1823Gln)
c.10682T>A (p.Leu3561Gln)
7g.92099757T>CCA368158606AKAP9,CYP51A1c.1352-14155A>G (n.1352-14155A>G)
c.10784T>C (p.Leu3595Pro)
c.10856T>C (p.Leu3619Pro)
c.3776T>C (p.Leu1259Pro)
n.132T>C
c.272T>C (p.Leu91Pro)
n.2862T>C
c.5429T>C (p.Leu1810Pro)
c.*1664T>C (n.*1664T>C)
c.10760T>C (p.Leu3587Pro)
n.10982T>C
c.10730T>C (p.Leu3577Pro)
c.10526T>C (p.Leu3509Pro)
n.12454T>C
c.10607T>C (p.Leu3536Pro)
c.10691T>C (p.Leu3564Pro)
c.4423T>C (n.4423T>C)
c.10643T>C (p.Leu3548Pro)
c.10823T>C (p.Leu3608Pro)
c.4544T>C (n.4544T>C)
c.10793T>C (p.Leu3598Pro)
c.4322T>C (p.Leu1441Pro)
n.2534T>C
n.584T>C
c.10931T>C (p.Leu3644Pro)
c.10955T>C (p.Leu3652Pro)
c.10895T>C (p.Leu3632Pro)
c.10892T>C (p.Leu3631Pro)
c.10877T>C (p.Leu3626Pro)
c.10916T>C (p.Leu3639Pro)
c.10835T>C (p.Leu3612Pro)
c.10790T>C (p.Leu3597Pro)
c.10820T>C (p.Leu3607Pro)
c.10796T>C (p.Leu3599Pro)
c.5444T>C (p.Leu1815Pro)
c.5405T>C (p.Leu1802Pro)
c.10919T>C (p.Leu3640Pro)
c.10880T>C (p.Leu3627Pro)
c.10865T>C (p.Leu3622Pro)
c.10826T>C (p.Leu3609Pro)
c.10778T>C (p.Leu3593Pro)
c.10547T>C (p.Leu3516Pro)
c.6584T>C (p.Leu2195Pro)
c.5468T>C (p.Leu1823Pro)
c.10682T>C (p.Leu3561Pro)
 dbSNP
7g.92099757T>GCA368158608AKAP9,CYP51A1c.1352-14155A>C (n.1352-14155A>C)
c.10784T>G (p.Leu3595Arg)
c.10856T>G (p.Leu3619Arg)
c.3776T>G (p.Leu1259Arg)
n.132T>G
c.272T>G (p.Leu91Arg)
n.2862T>G
c.5429T>G (p.Leu1810Arg)
c.*1664T>G (n.*1664T>G)
c.10760T>G (p.Leu3587Arg)
n.10982T>G
c.10730T>G (p.Leu3577Arg)
c.10526T>G (p.Leu3509Arg)
n.12454T>G
c.10607T>G (p.Leu3536Arg)
c.10691T>G (p.Leu3564Arg)
c.4423T>G (n.4423T>G)
c.10643T>G (p.Leu3548Arg)
c.10823T>G (p.Leu3608Arg)
c.4544T>G (n.4544T>G)
c.10793T>G (p.Leu3598Arg)
c.4322T>G (p.Leu1441Arg)
n.2534T>G
n.584T>G
c.10931T>G (p.Leu3644Arg)
c.10955T>G (p.Leu3652Arg)
c.10895T>G (p.Leu3632Arg)
c.10892T>G (p.Leu3631Arg)
c.10877T>G (p.Leu3626Arg)
c.10916T>G (p.Leu3639Arg)
c.10835T>G (p.Leu3612Arg)
c.10790T>G (p.Leu3597Arg)
c.10820T>G (p.Leu3607Arg)
c.10796T>G (p.Leu3599Arg)
c.5444T>G (p.Leu1815Arg)
c.5405T>G (p.Leu1802Arg)
c.10919T>G (p.Leu3640Arg)
c.10880T>G (p.Leu3627Arg)
c.10865T>G (p.Leu3622Arg)
c.10826T>G (p.Leu3609Arg)
c.10778T>G (p.Leu3593Arg)
c.10547T>G (p.Leu3516Arg)
c.6584T>G (p.Leu2195Arg)
c.5468T>G (p.Leu1823Arg)
c.10682T>G (p.Leu3561Arg)
7g.92099757T=CA1725766337AKAP9,CYP51A1c.1352-14155A= (n.1352-14155A=)
c.10784T= (p.Leu3595=)
c.10856T= (p.Leu3619=)
c.3776T= (p.Leu1259=)
n.132T=
c.272T= (p.Leu91=)
n.2862T=
c.5429T= (p.Leu1810=)
c.*1664T= (n.*1664T=)
c.10760T= (p.Leu3587=)
n.10982T=
c.10730T= (p.Leu3577=)
c.10526T= (p.Leu3509=)
n.12454T=
c.10607T= (p.Leu3536=)
c.10691T= (p.Leu3564=)
c.4423T= (n.4423T=)
c.10643T= (p.Leu3548=)
c.10823T= (p.Leu3608=)
c.4544T= (n.4544T=)
c.10793T= (p.Leu3598=)
c.4322T= (p.Leu1441=)
n.2534T=
n.584T=
c.10931T= (p.Leu3644=)
c.10955T= (p.Leu3652=)
c.10895T= (p.Leu3632=)
c.10892T= (p.Leu3631=)
c.10877T= (p.Leu3626=)
c.10916T= (p.Leu3639=)
c.10835T= (p.Leu3612=)
c.10790T= (p.Leu3597=)
c.10820T= (p.Leu3607=)
c.10796T= (p.Leu3599=)
c.5444T= (p.Leu1815=)
c.5405T= (p.Leu1802=)
c.10919T= (p.Leu3640=)
c.10880T= (p.Leu3627=)
c.10865T= (p.Leu3622=)
c.10826T= (p.Leu3609=)
c.10778T= (p.Leu3593=)
c.10547T= (p.Leu3516=)
c.6584T= (p.Leu2195=)
c.5468T= (p.Leu1823=)
c.10682T= (p.Leu3561=)
7g.92099758G>ACA456454148AKAP9,CYP51A1c.1352-14156C>T (n.1352-14156C>T)
c.10785G>A (p.Leu3595=)
c.10857G>A (p.Leu3619=)
c.3777G>A (p.Leu1259=)
n.133G>A
c.273G>A (p.Leu91=)
n.2863G>A
c.5430G>A (p.Leu1810=)
c.*1665G>A (n.*1665G>A)
c.10761G>A (p.Leu3587=)
n.10983G>A
c.10731G>A (p.Leu3577=)
c.10527G>A (p.Leu3509=)
n.12455G>A
c.10608G>A (p.Leu3536=)
c.10692G>A (p.Leu3564=)
c.4424G>A (n.4424G>A)
c.10644G>A (p.Leu3548=)
c.10824G>A (p.Leu3608=)
c.4545G>A (n.4545G>A)
c.10794G>A (p.Leu3598=)
c.4323G>A (p.Leu1441=)
n.2535G>A
n.585G>A
c.10932G>A (p.Leu3644=)
c.10956G>A (p.Leu3652=)
c.10896G>A (p.Leu3632=)
c.10893G>A (p.Leu3631=)
c.10878G>A (p.Leu3626=)
c.10917G>A (p.Leu3639=)
c.10836G>A (p.Leu3612=)
c.10791G>A (p.Leu3597=)
c.10821G>A (p.Leu3607=)
c.10797G>A (p.Leu3599=)
c.5445G>A (p.Leu1815=)
c.5406G>A (p.Leu1802=)
c.10920G>A (p.Leu3640=)
c.10881G>A (p.Leu3627=)
c.10866G>A (p.Leu3622=)
c.10827G>A (p.Leu3609=)
c.10779G>A (p.Leu3593=)
c.10548G>A (p.Leu3516=)
c.6585G>A (p.Leu2195=)
c.5469G>A (p.Leu1823=)
c.10683G>A (p.Leu3561=)
7g.92099758G>CCA456454149AKAP9,CYP51A1c.1352-14156C>G (n.1352-14156C>G)
c.10785G>C (p.Leu3595=)
c.10857G>C (p.Leu3619=)
c.3777G>C (p.Leu1259=)
n.133G>C
c.273G>C (p.Leu91=)
n.2863G>C
c.5430G>C (p.Leu1810=)
c.*1665G>C (n.*1665G>C)
c.10761G>C (p.Leu3587=)
n.10983G>C
c.10731G>C (p.Leu3577=)
c.10527G>C (p.Leu3509=)
n.12455G>C
c.10608G>C (p.Leu3536=)
c.10692G>C (p.Leu3564=)
c.4424G>C (n.4424G>C)
c.10644G>C (p.Leu3548=)
c.10824G>C (p.Leu3608=)
c.4545G>C (n.4545G>C)
c.10794G>C (p.Leu3598=)
c.4323G>C (p.Leu1441=)
n.2535G>C
n.585G>C
c.10932G>C (p.Leu3644=)
c.10956G>C (p.Leu3652=)
c.10896G>C (p.Leu3632=)
c.10893G>C (p.Leu3631=)
c.10878G>C (p.Leu3626=)
c.10917G>C (p.Leu3639=)
c.10836G>C (p.Leu3612=)
c.10791G>C (p.Leu3597=)
c.10821G>C (p.Leu3607=)
c.10797G>C (p.Leu3599=)
c.5445G>C (p.Leu1815=)
c.5406G>C (p.Leu1802=)
c.10920G>C (p.Leu3640=)
c.10881G>C (p.Leu3627=)
c.10866G>C (p.Leu3622=)
c.10827G>C (p.Leu3609=)
c.10779G>C (p.Leu3593=)
c.10548G>C (p.Leu3516=)
c.6585G>C (p.Leu2195=)
c.5469G>C (p.Leu1823=)
c.10683G>C (p.Leu3561=)
7g.92099758G>TCA456454150AKAP9,CYP51A1c.1352-14156C>A (n.1352-14156C>A)
c.10785G>T (p.Leu3595=)
c.10857G>T (p.Leu3619=)
c.3777G>T (p.Leu1259=)
n.133G>T
c.273G>T (p.Leu91=)
n.2863G>T
c.5430G>T (p.Leu1810=)
c.*1665G>T (n.*1665G>T)
c.10761G>T (p.Leu3587=)
n.10983G>T
c.10731G>T (p.Leu3577=)
c.10527G>T (p.Leu3509=)
n.12455G>T
c.10608G>T (p.Leu3536=)
c.10692G>T (p.Leu3564=)
c.4424G>T (n.4424G>T)
c.10644G>T (p.Leu3548=)
c.10824G>T (p.Leu3608=)
c.4545G>T (n.4545G>T)
c.10794G>T (p.Leu3598=)
c.4323G>T (p.Leu1441=)
n.2535G>T
n.585G>T
c.10932G>T (p.Leu3644=)
c.10956G>T (p.Leu3652=)
c.10896G>T (p.Leu3632=)
c.10893G>T (p.Leu3631=)
c.10878G>T (p.Leu3626=)
c.10917G>T (p.Leu3639=)
c.10836G>T (p.Leu3612=)
c.10791G>T (p.Leu3597=)
c.10821G>T (p.Leu3607=)
c.10797G>T (p.Leu3599=)
c.5445G>T (p.Leu1815=)
c.5406G>T (p.Leu1802=)
c.10920G>T (p.Leu3640=)
c.10881G>T (p.Leu3627=)
c.10866G>T (p.Leu3622=)
c.10827G>T (p.Leu3609=)
c.10779G>T (p.Leu3593=)
c.10548G>T (p.Leu3516=)
c.6585G>T (p.Leu2195=)
c.5469G>T (p.Leu1823=)
c.10683G>T (p.Leu3561=)
7g.92099759A=CA1725766345AKAP9,CYP51A1c.1352-14157T= (n.1352-14157T=)
c.10786A= (p.Thr3596=)
c.10858A= (p.Thr3620=)
c.3778A= (p.Thr1260=)
n.134A=
c.274A= (p.Thr92=)
n.2864A=
c.5431A= (p.Thr1811=)
c.*1666A= (n.*1666A=)
c.10762A= (p.Thr3588=)
n.10984A=
c.10732A= (p.Thr3578=)
c.10528A= (p.Thr3510=)
n.12456A=
c.10609A= (p.Thr3537=)
c.10693A= (p.Thr3565=)
c.4425A= (n.4425A=)
c.10645A= (p.Thr3549=)
c.10825A= (p.Thr3609=)
c.4546A= (n.4546A=)
c.10795A= (p.Thr3599=)
c.4324A= (p.Thr1442=)
n.2536A=
n.586A=
c.10933A= (p.Thr3645=)
c.10957A= (p.Thr3653=)
c.10897A= (p.Thr3633=)
c.10894A= (p.Thr3632=)
c.10879A= (p.Thr3627=)
c.10918A= (p.Thr3640=)
c.10837A= (p.Thr3613=)
c.10792A= (p.Thr3598=)
c.10822A= (p.Thr3608=)
c.10798A= (p.Thr3600=)
c.5446A= (p.Thr1816=)
c.5407A= (p.Thr1803=)
c.10921A= (p.Thr3641=)
c.10882A= (p.Thr3628=)
c.10867A= (p.Thr3623=)
c.10828A= (p.Thr3610=)
c.10780A= (p.Thr3594=)
c.10549A= (p.Thr3517=)
c.6586A= (p.Thr2196=)
c.5470A= (p.Thr1824=)
c.10684A= (p.Thr3562=)
7g.92099759A>CCA368158611AKAP9,CYP51A1c.1352-14157T>G (n.1352-14157T>G)
c.10786A>C (p.Thr3596Pro)
c.10858A>C (p.Thr3620Pro)
c.3778A>C (p.Thr1260Pro)
n.134A>C
c.274A>C (p.Thr92Pro)
n.2864A>C
c.5431A>C (p.Thr1811Pro)
c.*1666A>C (n.*1666A>C)
c.10762A>C (p.Thr3588Pro)
n.10984A>C
c.10732A>C (p.Thr3578Pro)
c.10528A>C (p.Thr3510Pro)
n.12456A>C
c.10609A>C (p.Thr3537Pro)
c.10693A>C (p.Thr3565Pro)
c.4425A>C (n.4425A>C)
c.10645A>C (p.Thr3549Pro)
c.10825A>C (p.Thr3609Pro)
c.4546A>C (n.4546A>C)
c.10795A>C (p.Thr3599Pro)
c.4324A>C (p.Thr1442Pro)
n.2536A>C
n.586A>C
c.10933A>C (p.Thr3645Pro)
c.10957A>C (p.Thr3653Pro)
c.10897A>C (p.Thr3633Pro)
c.10894A>C (p.Thr3632Pro)
c.10879A>C (p.Thr3627Pro)
c.10918A>C (p.Thr3640Pro)
c.10837A>C (p.Thr3613Pro)
c.10792A>C (p.Thr3598Pro)
c.10822A>C (p.Thr3608Pro)
c.10798A>C (p.Thr3600Pro)
c.5446A>C (p.Thr1816Pro)
c.5407A>C (p.Thr1803Pro)
c.10921A>C (p.Thr3641Pro)
c.10882A>C (p.Thr3628Pro)
c.10867A>C (p.Thr3623Pro)
c.10828A>C (p.Thr3610Pro)
c.10780A>C (p.Thr3594Pro)
c.10549A>C (p.Thr3517Pro)
c.6586A>C (p.Thr2196Pro)
c.5470A>C (p.Thr1824Pro)
c.10684A>C (p.Thr3562Pro)
7g.92099759A>GCA368158613AKAP9,CYP51A1c.1352-14157T>C (n.1352-14157T>C)
c.10786A>G (p.Thr3596Ala)
c.10858A>G (p.Thr3620Ala)
c.3778A>G (p.Thr1260Ala)
n.134A>G
c.274A>G (p.Thr92Ala)
n.2864A>G
c.5431A>G (p.Thr1811Ala)
c.*1666A>G (n.*1666A>G)
c.10762A>G (p.Thr3588Ala)
n.10984A>G
c.10732A>G (p.Thr3578Ala)
c.10528A>G (p.Thr3510Ala)
n.12456A>G
c.10609A>G (p.Thr3537Ala)
c.10693A>G (p.Thr3565Ala)
c.4425A>G (n.4425A>G)
c.10645A>G (p.Thr3549Ala)
c.10825A>G (p.Thr3609Ala)
c.4546A>G (n.4546A>G)
c.10795A>G (p.Thr3599Ala)
c.4324A>G (p.Thr1442Ala)
n.2536A>G
n.586A>G
c.10933A>G (p.Thr3645Ala)
c.10957A>G (p.Thr3653Ala)
c.10897A>G (p.Thr3633Ala)
c.10894A>G (p.Thr3632Ala)
c.10879A>G (p.Thr3627Ala)
c.10918A>G (p.Thr3640Ala)
c.10837A>G (p.Thr3613Ala)
c.10792A>G (p.Thr3598Ala)
c.10822A>G (p.Thr3608Ala)
c.10798A>G (p.Thr3600Ala)
c.5446A>G (p.Thr1816Ala)
c.5407A>G (p.Thr1803Ala)
c.10921A>G (p.Thr3641Ala)
c.10882A>G (p.Thr3628Ala)
c.10867A>G (p.Thr3623Ala)
c.10828A>G (p.Thr3610Ala)
c.10780A>G (p.Thr3594Ala)
c.10549A>G (p.Thr3517Ala)
c.6586A>G (p.Thr2196Ala)
c.5470A>G (p.Thr1824Ala)
c.10684A>G (p.Thr3562Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.92099759A>TCA368158614AKAP9,CYP51A1c.1352-14157T>A (n.1352-14157T>A)
c.10786A>T (p.Thr3596Ser)
c.10858A>T (p.Thr3620Ser)
c.3778A>T (p.Thr1260Ser)
n.134A>T
c.274A>T (p.Thr92Ser)
n.2864A>T
c.5431A>T (p.Thr1811Ser)
c.*1666A>T (n.*1666A>T)
c.10762A>T (p.Thr3588Ser)
n.10984A>T
c.10732A>T (p.Thr3578Ser)
c.10528A>T (p.Thr3510Ser)
n.12456A>T
c.10609A>T (p.Thr3537Ser)
c.10693A>T (p.Thr3565Ser)
c.4425A>T (n.4425A>T)
c.10645A>T (p.Thr3549Ser)
c.10825A>T (p.Thr3609Ser)
c.4546A>T (n.4546A>T)
c.10795A>T (p.Thr3599Ser)
c.4324A>T (p.Thr1442Ser)
n.2536A>T
n.586A>T
c.10933A>T (p.Thr3645Ser)
c.10957A>T (p.Thr3653Ser)
c.10897A>T (p.Thr3633Ser)
c.10894A>T (p.Thr3632Ser)
c.10879A>T (p.Thr3627Ser)
c.10918A>T (p.Thr3640Ser)
c.10837A>T (p.Thr3613Ser)
c.10792A>T (p.Thr3598Ser)
c.10822A>T (p.Thr3608Ser)
c.10798A>T (p.Thr3600Ser)
c.5446A>T (p.Thr1816Ser)
c.5407A>T (p.Thr1803Ser)
c.10921A>T (p.Thr3641Ser)
c.10882A>T (p.Thr3628Ser)
c.10867A>T (p.Thr3623Ser)
c.10828A>T (p.Thr3610Ser)
c.10780A>T (p.Thr3594Ser)
c.10549A>T (p.Thr3517Ser)
c.6586A>T (p.Thr2196Ser)
c.5470A>T (p.Thr1824Ser)
c.10684A>T (p.Thr3562Ser)
7g.92099760C>ACA368158617AKAP9,CYP51A1c.1352-14158G>T (n.1352-14158G>T)
c.10787C>A (p.Thr3596Lys)
c.10859C>A (p.Thr3620Lys)
c.3779C>A (p.Thr1260Lys)
n.135C>A
c.275C>A (p.Thr92Lys)
n.2865C>A
c.5432C>A (p.Thr1811Lys)
c.*1667C>A (n.*1667C>A)
c.10763C>A (p.Thr3588Lys)
n.10985C>A
c.10733C>A (p.Thr3578Lys)
c.10529C>A (p.Thr3510Lys)
n.12457C>A
c.10610C>A (p.Thr3537Lys)
c.10694C>A (p.Thr3565Lys)
c.4426C>A (n.4426C>A)
c.10646C>A (p.Thr3549Lys)
c.10826C>A (p.Thr3609Lys)
c.4547C>A (n.4547C>A)
c.10796C>A (p.Thr3599Lys)
c.4325C>A (p.Thr1442Lys)
n.2537C>A
n.587C>A
c.10934C>A (p.Thr3645Lys)
c.10958C>A (p.Thr3653Lys)
c.10898C>A (p.Thr3633Lys)
c.10895C>A (p.Thr3632Lys)
c.10880C>A (p.Thr3627Lys)
c.10919C>A (p.Thr3640Lys)
c.10838C>A (p.Thr3613Lys)
c.10793C>A (p.Thr3598Lys)
c.10823C>A (p.Thr3608Lys)
c.10799C>A (p.Thr3600Lys)
c.5447C>A (p.Thr1816Lys)
c.5408C>A (p.Thr1803Lys)
c.10922C>A (p.Thr3641Lys)
c.10883C>A (p.Thr3628Lys)
c.10868C>A (p.Thr3623Lys)
c.10829C>A (p.Thr3610Lys)
c.10781C>A (p.Thr3594Lys)
c.10550C>A (p.Thr3517Lys)
c.6587C>A (p.Thr2196Lys)
c.5471C>A (p.Thr1824Lys)
c.10685C>A (p.Thr3562Lys)
7g.92099760C>GCA368158619AKAP9,CYP51A1c.1352-14158G>C (n.1352-14158G>C)
c.10787C>G (p.Thr3596Arg)
c.10859C>G (p.Thr3620Arg)
c.3779C>G (p.Thr1260Arg)
n.135C>G
c.275C>G (p.Thr92Arg)
n.2865C>G
c.5432C>G (p.Thr1811Arg)
c.*1667C>G (n.*1667C>G)
c.10763C>G (p.Thr3588Arg)
n.10985C>G
c.10733C>G (p.Thr3578Arg)
c.10529C>G (p.Thr3510Arg)
n.12457C>G
c.10610C>G (p.Thr3537Arg)
c.10694C>G (p.Thr3565Arg)
c.4426C>G (n.4426C>G)
c.10646C>G (p.Thr3549Arg)
c.10826C>G (p.Thr3609Arg)
c.4547C>G (n.4547C>G)
c.10796C>G (p.Thr3599Arg)
c.4325C>G (p.Thr1442Arg)
n.2537C>G
n.587C>G
c.10934C>G (p.Thr3645Arg)
c.10958C>G (p.Thr3653Arg)
c.10898C>G (p.Thr3633Arg)
c.10895C>G (p.Thr3632Arg)
c.10880C>G (p.Thr3627Arg)
c.10919C>G (p.Thr3640Arg)
c.10838C>G (p.Thr3613Arg)
c.10793C>G (p.Thr3598Arg)
c.10823C>G (p.Thr3608Arg)
c.10799C>G (p.Thr3600Arg)
c.5447C>G (p.Thr1816Arg)
c.5408C>G (p.Thr1803Arg)
c.10922C>G (p.Thr3641Arg)
c.10883C>G (p.Thr3628Arg)
c.10868C>G (p.Thr3623Arg)
c.10829C>G (p.Thr3610Arg)
c.10781C>G (p.Thr3594Arg)
c.10550C>G (p.Thr3517Arg)
c.6587C>G (p.Thr2196Arg)
c.5471C>G (p.Thr1824Arg)
c.10685C>G (p.Thr3562Arg)
7g.92099760C>TCA368158625AKAP9,CYP51A1c.1352-14158G>A (n.1352-14158G>A)
c.10787C>T (p.Thr3596Ile)
c.10859C>T (p.Thr3620Ile)
c.3779C>T (p.Thr1260Ile)
n.135C>T
c.275C>T (p.Thr92Ile)
n.2865C>T
c.5432C>T (p.Thr1811Ile)
c.*1667C>T (n.*1667C>T)
c.10763C>T (p.Thr3588Ile)
n.10985C>T
c.10733C>T (p.Thr3578Ile)
c.10529C>T (p.Thr3510Ile)
n.12457C>T
c.10610C>T (p.Thr3537Ile)
c.10694C>T (p.Thr3565Ile)
c.4426C>T (n.4426C>T)
c.10646C>T (p.Thr3549Ile)
c.10826C>T (p.Thr3609Ile)
c.4547C>T (n.4547C>T)
c.10796C>T (p.Thr3599Ile)
c.4325C>T (p.Thr1442Ile)
n.2537C>T
n.587C>T
c.10934C>T (p.Thr3645Ile)
c.10958C>T (p.Thr3653Ile)
c.10898C>T (p.Thr3633Ile)
c.10895C>T (p.Thr3632Ile)
c.10880C>T (p.Thr3627Ile)
c.10919C>T (p.Thr3640Ile)
c.10838C>T (p.Thr3613Ile)
c.10793C>T (p.Thr3598Ile)
c.10823C>T (p.Thr3608Ile)
c.10799C>T (p.Thr3600Ile)
c.5447C>T (p.Thr1816Ile)
c.5408C>T (p.Thr1803Ile)
c.10922C>T (p.Thr3641Ile)
c.10883C>T (p.Thr3628Ile)
c.10868C>T (p.Thr3623Ile)
c.10829C>T (p.Thr3610Ile)
c.10781C>T (p.Thr3594Ile)
c.10550C>T (p.Thr3517Ile)
c.6587C>T (p.Thr2196Ile)
c.5471C>T (p.Thr1824Ile)
c.10685C>T (p.Thr3562Ile)
 ClinVar gnomAD v4
7g.92099761A>CCA456454157AKAP9,CYP51A1c.1352-14159T>G (n.1352-14159T>G)
c.10788A>C (p.Thr3596=)
c.10860A>C (p.Thr3620=)
c.3780A>C (p.Thr1260=)
n.136A>C
c.276A>C (p.Thr92=)
n.2866A>C
c.5433A>C (p.Thr1811=)
c.*1668A>C (n.*1668A>C)
c.10764A>C (p.Thr3588=)
n.10986A>C
c.10734A>C (p.Thr3578=)
c.10530A>C (p.Thr3510=)
n.12458A>C
c.10611A>C (p.Thr3537=)
c.10695A>C (p.Thr3565=)
c.4427A>C (n.4427A>C)
c.10647A>C (p.Thr3549=)
c.10827A>C (p.Thr3609=)
c.4548A>C (n.4548A>C)
c.10797A>C (p.Thr3599=)
c.4326A>C (p.Thr1442=)
n.2538A>C
n.588A>C
c.10935A>C (p.Thr3645=)
c.10959A>C (p.Thr3653=)
c.10899A>C (p.Thr3633=)
c.10896A>C (p.Thr3632=)
c.10881A>C (p.Thr3627=)
c.10920A>C (p.Thr3640=)
c.10839A>C (p.Thr3613=)
c.10794A>C (p.Thr3598=)
c.10824A>C (p.Thr3608=)
c.10800A>C (p.Thr3600=)
c.5448A>C (p.Thr1816=)
c.5409A>C (p.Thr1803=)
c.10923A>C (p.Thr3641=)
c.10884A>C (p.Thr3628=)
c.10869A>C (p.Thr3623=)
c.10830A>C (p.Thr3610=)
c.10782A>C (p.Thr3594=)
c.10551A>C (p.Thr3517=)
c.6588A>C (p.Thr2196=)
c.5472A>C (p.Thr1824=)
c.10686A>C (p.Thr3562=)
7g.92099761A>GCA456454154AKAP9,CYP51A1c.1352-14159T>C (n.1352-14159T>C)
c.10788A>G (p.Thr3596=)
c.10860A>G (p.Thr3620=)
c.3780A>G (p.Thr1260=)
n.136A>G
c.276A>G (p.Thr92=)
n.2866A>G
c.5433A>G (p.Thr1811=)
c.*1668A>G (n.*1668A>G)
c.10764A>G (p.Thr3588=)
n.10986A>G
c.10734A>G (p.Thr3578=)
c.10530A>G (p.Thr3510=)
n.12458A>G
c.10611A>G (p.Thr3537=)
c.10695A>G (p.Thr3565=)
c.4427A>G (n.4427A>G)
c.10647A>G (p.Thr3549=)
c.10827A>G (p.Thr3609=)
c.4548A>G (n.4548A>G)
c.10797A>G (p.Thr3599=)
c.4326A>G (p.Thr1442=)
n.2538A>G
n.588A>G
c.10935A>G (p.Thr3645=)
c.10959A>G (p.Thr3653=)
c.10899A>G (p.Thr3633=)
c.10896A>G (p.Thr3632=)
c.10881A>G (p.Thr3627=)
c.10920A>G (p.Thr3640=)
c.10839A>G (p.Thr3613=)
c.10794A>G (p.Thr3598=)
c.10824A>G (p.Thr3608=)
c.10800A>G (p.Thr3600=)
c.5448A>G (p.Thr1816=)
c.5409A>G (p.Thr1803=)
c.10923A>G (p.Thr3641=)
c.10884A>G (p.Thr3628=)
c.10869A>G (p.Thr3623=)
c.10830A>G (p.Thr3610=)
c.10782A>G (p.Thr3594=)
c.10551A>G (p.Thr3517=)
c.6588A>G (p.Thr2196=)
c.5472A>G (p.Thr1824=)
c.10686A>G (p.Thr3562=)
7g.92099761A>TCA456454156AKAP9,CYP51A1c.1352-14159T>A (n.1352-14159T>A)
c.10788A>T (p.Thr3596=)
c.10860A>T (p.Thr3620=)
c.3780A>T (p.Thr1260=)
n.136A>T
c.276A>T (p.Thr92=)
n.2866A>T
c.5433A>T (p.Thr1811=)
c.*1668A>T (n.*1668A>T)
c.10764A>T (p.Thr3588=)
n.10986A>T
c.10734A>T (p.Thr3578=)
c.10530A>T (p.Thr3510=)
n.12458A>T
c.10611A>T (p.Thr3537=)
c.10695A>T (p.Thr3565=)
c.4427A>T (n.4427A>T)
c.10647A>T (p.Thr3549=)
c.10827A>T (p.Thr3609=)
c.4548A>T (n.4548A>T)
c.10797A>T (p.Thr3599=)
c.4326A>T (p.Thr1442=)
n.2538A>T
n.588A>T
c.10935A>T (p.Thr3645=)
c.10959A>T (p.Thr3653=)
c.10899A>T (p.Thr3633=)
c.10896A>T (p.Thr3632=)
c.10881A>T (p.Thr3627=)
c.10920A>T (p.Thr3640=)
c.10839A>T (p.Thr3613=)
c.10794A>T (p.Thr3598=)
c.10824A>T (p.Thr3608=)
c.10800A>T (p.Thr3600=)
c.5448A>T (p.Thr1816=)
c.5409A>T (p.Thr1803=)
c.10923A>T (p.Thr3641=)
c.10884A>T (p.Thr3628=)
c.10869A>T (p.Thr3623=)
c.10830A>T (p.Thr3610=)
c.10782A>T (p.Thr3594=)
c.10551A>T (p.Thr3517=)
c.6588A>T (p.Thr2196=)
c.5472A>T (p.Thr1824=)
c.10686A>T (p.Thr3562=)
7g.92099761_92099762delCA2683693699AKAP9,CYP51A1c.1352-14160_1352-14159del (n.1352-14160_1352-14159del)
c.10788_10789del (p.Gly3597AlafsTer7)
c.10860_10861del (p.Gly3621AlafsTer7)
c.3780_3781del (p.Gly1261AlafsTer7)
n.136_137del
c.276_277del (p.Gly93AlafsTer7)
n.2866_2867del
c.5433_5434del (p.Gly1812AlafsTer7)
c.*1668_*1669del (n.*1668_*1669del)
c.10764_10765del (p.Gly3589AlafsTer7)
n.10986_10987del
c.10734_10735del (p.Gly3579AlafsTer7)
c.10530_10531del (p.Gly3511AlafsTer7)
n.12458_12459del
c.10611_10612del (p.Gly3538AlafsTer7)
c.10695_10696del (p.Gly3566AlafsTer7)
c.4427_4428del (n.4427_4428del)
c.10647_10648del (p.Gly3550AlafsTer7)
c.10827_10828del (p.Gly3610AlafsTer7)
c.4548_4549del (n.4548_4549del)
c.10797_10798del (p.Gly3600AlafsTer7)
c.4326_4327del (p.Gly1443AlafsTer7)
n.2538_2539del
n.588_589del
c.10935_10936del (p.Gly3646AlafsTer7)
c.10959_10960del (p.Gly3654AlafsTer7)
c.10899_10900del (p.Gly3634AlafsTer7)
c.10896_10897del (p.Gly3633AlafsTer7)
c.10881_10882del (p.Gly3628AlafsTer7)
c.10920_10921del (p.Gly3641AlafsTer7)
c.10839_10840del (p.Gly3614AlafsTer7)
c.10794_10795del (p.Gly3599AlafsTer7)
c.10824_10825del (p.Gly3609AlafsTer7)
c.10800_10801del (p.Gly3601AlafsTer7)
c.5448_5449del (p.Gly1817AlafsTer7)
c.5409_5410del (p.Gly1804AlafsTer7)
c.10923_10924del (p.Gly3642AlafsTer7)
c.10884_10885del (p.Gly3629AlafsTer7)
c.10869_10870del (p.Gly3624AlafsTer7)
c.10830_10831del (p.Gly3611AlafsTer7)
c.10782_10783del (p.Gly3595AlafsTer7)
c.10551_10552del (p.Gly3518AlafsTer7)
c.6588_6589del (p.Gly2197AlafsTer7)
c.5472_5473del (p.Gly1825AlafsTer7)
c.10686_10687del (p.Gly3563AlafsTer7)
 gnomAD v4
7g.92099762G>ACA368158629AKAP9,CYP51A1c.1352-14160C>T (n.1352-14160C>T)
c.10789G>A (p.Gly3597Arg)
c.10861G>A (p.Gly3621Arg)
c.3781G>A (p.Gly1261Arg)
n.137G>A
c.277G>A (p.Gly93Arg)
n.2867G>A
c.5434G>A (p.Gly1812Arg)
c.*1669G>A (n.*1669G>A)
c.10765G>A (p.Gly3589Arg)
n.10987G>A
c.10735G>A (p.Gly3579Arg)
c.10531G>A (p.Gly3511Arg)
n.12459G>A
c.10612G>A (p.Gly3538Arg)
c.10696G>A (p.Gly3566Arg)
c.4428G>A (n.4428G>A)
c.10648G>A (p.Gly3550Arg)
c.10828G>A (p.Gly3610Arg)
c.4549G>A (n.4549G>A)
c.10798G>A (p.Gly3600Arg)
c.4327G>A (p.Gly1443Arg)
n.2539G>A
n.589G>A
c.10936G>A (p.Gly3646Arg)
c.10960G>A (p.Gly3654Arg)
c.10900G>A (p.Gly3634Arg)
c.10897G>A (p.Gly3633Arg)
c.10882G>A (p.Gly3628Arg)
c.10921G>A (p.Gly3641Arg)
c.10840G>A (p.Gly3614Arg)
c.10795G>A (p.Gly3599Arg)
c.10825G>A (p.Gly3609Arg)
c.10801G>A (p.Gly3601Arg)
c.5449G>A (p.Gly1817Arg)
c.5410G>A (p.Gly1804Arg)
c.10924G>A (p.Gly3642Arg)
c.10885G>A (p.Gly3629Arg)
c.10870G>A (p.Gly3624Arg)
c.10831G>A (p.Gly3611Arg)
c.10783G>A (p.Gly3595Arg)
c.10552G>A (p.Gly3518Arg)
c.6589G>A (p.Gly2197Arg)
c.5473G>A (p.Gly1825Arg)
c.10687G>A (p.Gly3563Arg)
7g.92099762G>CCA368158631AKAP9,CYP51A1c.1352-14160C>G (n.1352-14160C>G)
c.10789G>C (p.Gly3597Arg)
c.10861G>C (p.Gly3621Arg)
c.3781G>C (p.Gly1261Arg)
n.137G>C
c.277G>C (p.Gly93Arg)
n.2867G>C
c.5434G>C (p.Gly1812Arg)
c.*1669G>C (n.*1669G>C)
c.10765G>C (p.Gly3589Arg)
n.10987G>C
c.10735G>C (p.Gly3579Arg)
c.10531G>C (p.Gly3511Arg)
n.12459G>C
c.10612G>C (p.Gly3538Arg)
c.10696G>C (p.Gly3566Arg)
c.4428G>C (n.4428G>C)
c.10648G>C (p.Gly3550Arg)
c.10828G>C (p.Gly3610Arg)
c.4549G>C (n.4549G>C)
c.10798G>C (p.Gly3600Arg)
c.4327G>C (p.Gly1443Arg)
n.2539G>C
n.589G>C
c.10936G>C (p.Gly3646Arg)
c.10960G>C (p.Gly3654Arg)
c.10900G>C (p.Gly3634Arg)
c.10897G>C (p.Gly3633Arg)
c.10882G>C (p.Gly3628Arg)
c.10921G>C (p.Gly3641Arg)
c.10840G>C (p.Gly3614Arg)
c.10795G>C (p.Gly3599Arg)
c.10825G>C (p.Gly3609Arg)
c.10801G>C (p.Gly3601Arg)
c.5449G>C (p.Gly1817Arg)
c.5410G>C (p.Gly1804Arg)
c.10924G>C (p.Gly3642Arg)
c.10885G>C (p.Gly3629Arg)
c.10870G>C (p.Gly3624Arg)
c.10831G>C (p.Gly3611Arg)
c.10783G>C (p.Gly3595Arg)
c.10552G>C (p.Gly3518Arg)
c.6589G>C (p.Gly2197Arg)
c.5473G>C (p.Gly1825Arg)
c.10687G>C (p.Gly3563Arg)
7g.92099762G>TCA368158635AKAP9,CYP51A1c.1352-14160C>A (n.1352-14160C>A)
c.10789G>T (p.Gly3597Trp)
c.10861G>T (p.Gly3621Trp)
c.3781G>T (p.Gly1261Trp)
n.137G>T
c.277G>T (p.Gly93Trp)
n.2867G>T
c.5434G>T (p.Gly1812Trp)
c.*1669G>T (n.*1669G>T)
c.10765G>T (p.Gly3589Trp)
n.10987G>T
c.10735G>T (p.Gly3579Trp)
c.10531G>T (p.Gly3511Trp)
n.12459G>T
c.10612G>T (p.Gly3538Trp)
c.10696G>T (p.Gly3566Trp)
c.4428G>T (n.4428G>T)
c.10648G>T (p.Gly3550Trp)
c.10828G>T (p.Gly3610Trp)
c.4549G>T (n.4549G>T)
c.10798G>T (p.Gly3600Trp)
c.4327G>T (p.Gly1443Trp)
n.2539G>T
n.589G>T
c.10936G>T (p.Gly3646Trp)
c.10960G>T (p.Gly3654Trp)
c.10900G>T (p.Gly3634Trp)
c.10897G>T (p.Gly3633Trp)
c.10882G>T (p.Gly3628Trp)
c.10921G>T (p.Gly3641Trp)
c.10840G>T (p.Gly3614Trp)
c.10795G>T (p.Gly3599Trp)
c.10825G>T (p.Gly3609Trp)
c.10801G>T (p.Gly3601Trp)
c.5449G>T (p.Gly1817Trp)
c.5410G>T (p.Gly1804Trp)
c.10924G>T (p.Gly3642Trp)
c.10885G>T (p.Gly3629Trp)
c.10870G>T (p.Gly3624Trp)
c.10831G>T (p.Gly3611Trp)
c.10783G>T (p.Gly3595Trp)
c.10552G>T (p.Gly3518Trp)
c.6589G>T (p.Gly2197Trp)
c.5473G>T (p.Gly1825Trp)
c.10687G>T (p.Gly3563Trp)
7g.92099763G>ACA368158640AKAP9,CYP51A1c.1352-14161C>T (n.1352-14161C>T)
c.10790G>A (p.Gly3597Glu)
c.10862G>A (p.Gly3621Glu)
c.3782G>A (p.Gly1261Glu)
n.138G>A
c.278G>A (p.Gly93Glu)
n.2868G>A
c.5435G>A (p.Gly1812Glu)
c.*1670G>A (n.*1670G>A)
c.10766G>A (p.Gly3589Glu)
n.10988G>A
c.10736G>A (p.Gly3579Glu)
c.10532G>A (p.Gly3511Glu)
n.12460G>A
c.10613G>A (p.Gly3538Glu)
c.10697G>A (p.Gly3566Glu)
c.4429G>A (n.4429G>A)
c.10649G>A (p.Gly3550Glu)
c.10829G>A (p.Gly3610Glu)
c.4550G>A (n.4550G>A)
c.10799G>A (p.Gly3600Glu)
c.4328G>A (p.Gly1443Glu)
n.2540G>A
n.590G>A
c.10937G>A (p.Gly3646Glu)
c.10961G>A (p.Gly3654Glu)
c.10901G>A (p.Gly3634Glu)
c.10898G>A (p.Gly3633Glu)
c.10883G>A (p.Gly3628Glu)
c.10922G>A (p.Gly3641Glu)
c.10841G>A (p.Gly3614Glu)
c.10796G>A (p.Gly3599Glu)
c.10826G>A (p.Gly3609Glu)
c.10802G>A (p.Gly3601Glu)
c.5450G>A (p.Gly1817Glu)
c.5411G>A (p.Gly1804Glu)
c.10925G>A (p.Gly3642Glu)
c.10886G>A (p.Gly3629Glu)
c.10871G>A (p.Gly3624Glu)
c.10832G>A (p.Gly3611Glu)
c.10784G>A (p.Gly3595Glu)
c.10553G>A (p.Gly3518Glu)
c.6590G>A (p.Gly2197Glu)
c.5474G>A (p.Gly1825Glu)
c.10688G>A (p.Gly3563Glu)
7g.92099763G>CCA368158638AKAP9,CYP51A1c.1352-14161C>G (n.1352-14161C>G)
c.10790G>C (p.Gly3597Ala)
c.10862G>C (p.Gly3621Ala)
c.3782G>C (p.Gly1261Ala)
n.138G>C
c.278G>C (p.Gly93Ala)
n.2868G>C
c.5435G>C (p.Gly1812Ala)
c.*1670G>C (n.*1670G>C)
c.10766G>C (p.Gly3589Ala)
n.10988G>C
c.10736G>C (p.Gly3579Ala)
c.10532G>C (p.Gly3511Ala)
n.12460G>C
c.10613G>C (p.Gly3538Ala)
c.10697G>C (p.Gly3566Ala)
c.4429G>C (n.4429G>C)
c.10649G>C (p.Gly3550Ala)
c.10829G>C (p.Gly3610Ala)
c.4550G>C (n.4550G>C)
c.10799G>C (p.Gly3600Ala)
c.4328G>C (p.Gly1443Ala)
n.2540G>C
n.590G>C
c.10937G>C (p.Gly3646Ala)
c.10961G>C (p.Gly3654Ala)
c.10901G>C (p.Gly3634Ala)
c.10898G>C (p.Gly3633Ala)
c.10883G>C (p.Gly3628Ala)
c.10922G>C (p.Gly3641Ala)
c.10841G>C (p.Gly3614Ala)
c.10796G>C (p.Gly3599Ala)
c.10826G>C (p.Gly3609Ala)
c.10802G>C (p.Gly3601Ala)
c.5450G>C (p.Gly1817Ala)
c.5411G>C (p.Gly1804Ala)
c.10925G>C (p.Gly3642Ala)
c.10886G>C (p.Gly3629Ala)
c.10871G>C (p.Gly3624Ala)
c.10832G>C (p.Gly3611Ala)
c.10784G>C (p.Gly3595Ala)
c.10553G>C (p.Gly3518Ala)
c.6590G>C (p.Gly2197Ala)
c.5474G>C (p.Gly1825Ala)
c.10688G>C (p.Gly3563Ala)
7g.92099763G>TCA368158639AKAP9,CYP51A1c.1352-14161C>A (n.1352-14161C>A)
c.10790G>T (p.Gly3597Val)
c.10862G>T (p.Gly3621Val)
c.3782G>T (p.Gly1261Val)
n.138G>T
c.278G>T (p.Gly93Val)
n.2868G>T
c.5435G>T (p.Gly1812Val)
c.*1670G>T (n.*1670G>T)
c.10766G>T (p.Gly3589Val)
n.10988G>T
c.10736G>T (p.Gly3579Val)
c.10532G>T (p.Gly3511Val)
n.12460G>T
c.10613G>T (p.Gly3538Val)
c.10697G>T (p.Gly3566Val)
c.4429G>T (n.4429G>T)
c.10649G>T (p.Gly3550Val)
c.10829G>T (p.Gly3610Val)
c.4550G>T (n.4550G>T)
c.10799G>T (p.Gly3600Val)
c.4328G>T (p.Gly1443Val)
n.2540G>T
n.590G>T
c.10937G>T (p.Gly3646Val)
c.10961G>T (p.Gly3654Val)
c.10901G>T (p.Gly3634Val)
c.10898G>T (p.Gly3633Val)
c.10883G>T (p.Gly3628Val)
c.10922G>T (p.Gly3641Val)
c.10841G>T (p.Gly3614Val)
c.10796G>T (p.Gly3599Val)
c.10826G>T (p.Gly3609Val)
c.10802G>T (p.Gly3601Val)
c.5450G>T (p.Gly1817Val)
c.5411G>T (p.Gly1804Val)
c.10925G>T (p.Gly3642Val)
c.10886G>T (p.Gly3629Val)
c.10871G>T (p.Gly3624Val)
c.10832G>T (p.Gly3611Val)
c.10784G>T (p.Gly3595Val)
c.10553G>T (p.Gly3518Val)
c.6590G>T (p.Gly2197Val)
c.5474G>T (p.Gly1825Val)
c.10688G>T (p.Gly3563Val)
7g.92099764G>ACA456454158AKAP9,CYP51A1c.1352-14162C>T (n.1352-14162C>T)
c.10791G>A (p.Gly3597=)
c.10863G>A (p.Gly3621=)
c.3783G>A (p.Gly1261=)
n.139G>A
c.279G>A (p.Gly93=)
n.2869G>A
c.5436G>A (p.Gly1812=)
c.*1671G>A (n.*1671G>A)
c.10767G>A (p.Gly3589=)
n.10989G>A
c.10737G>A (p.Gly3579=)
c.10533G>A (p.Gly3511=)
n.12461G>A
c.10614G>A (p.Gly3538=)
c.10698G>A (p.Gly3566=)
c.4430G>A (n.4430G>A)
c.10650G>A (p.Gly3550=)
c.10830G>A (p.Gly3610=)
c.4551G>A (n.4551G>A)
c.10800G>A (p.Gly3600=)
c.4329G>A (p.Gly1443=)
n.2541G>A
n.591G>A
c.10938G>A (p.Gly3646=)
c.10962G>A (p.Gly3654=)
c.10902G>A (p.Gly3634=)
c.10899G>A (p.Gly3633=)
c.10884G>A (p.Gly3628=)
c.10923G>A (p.Gly3641=)
c.10842G>A (p.Gly3614=)
c.10797G>A (p.Gly3599=)
c.10827G>A (p.Gly3609=)
c.10803G>A (p.Gly3601=)
c.5451G>A (p.Gly1817=)
c.5412G>A (p.Gly1804=)
c.10926G>A (p.Gly3642=)
c.10887G>A (p.Gly3629=)
c.10872G>A (p.Gly3624=)
c.10833G>A (p.Gly3611=)
c.10785G>A (p.Gly3595=)
c.10554G>A (p.Gly3518=)
c.6591G>A (p.Gly2197=)
c.5475G>A (p.Gly1825=)
c.10689G>A (p.Gly3563=)
7g.92099764G>CCA456454159AKAP9,CYP51A1c.1352-14162C>G (n.1352-14162C>G)
c.10791G>C (p.Gly3597=)
c.10863G>C (p.Gly3621=)
c.3783G>C (p.Gly1261=)
n.139G>C
c.279G>C (p.Gly93=)
n.2869G>C
c.5436G>C (p.Gly1812=)
c.*1671G>C (n.*1671G>C)
c.10767G>C (p.Gly3589=)
n.10989G>C
c.10737G>C (p.Gly3579=)
c.10533G>C (p.Gly3511=)
n.12461G>C
c.10614G>C (p.Gly3538=)
c.10698G>C (p.Gly3566=)
c.4430G>C (n.4430G>C)
c.10650G>C (p.Gly3550=)
c.10830G>C (p.Gly3610=)
c.4551G>C (n.4551G>C)
c.10800G>C (p.Gly3600=)
c.4329G>C (p.Gly1443=)
n.2541G>C
n.591G>C
c.10938G>C (p.Gly3646=)
c.10962G>C (p.Gly3654=)
c.10902G>C (p.Gly3634=)
c.10899G>C (p.Gly3633=)
c.10884G>C (p.Gly3628=)
c.10923G>C (p.Gly3641=)
c.10842G>C (p.Gly3614=)
c.10797G>C (p.Gly3599=)
c.10827G>C (p.Gly3609=)
c.10803G>C (p.Gly3601=)
c.5451G>C (p.Gly1817=)
c.5412G>C (p.Gly1804=)
c.10926G>C (p.Gly3642=)
c.10887G>C (p.Gly3629=)
c.10872G>C (p.Gly3624=)
c.10833G>C (p.Gly3611=)
c.10785G>C (p.Gly3595=)
c.10554G>C (p.Gly3518=)
c.6591G>C (p.Gly2197=)
c.5475G>C (p.Gly1825=)
c.10689G>C (p.Gly3563=)
7g.92099764G=CA1725766351AKAP9,CYP51A1c.1352-14162C= (n.1352-14162C=)
c.10791G= (p.Gly3597=)
c.10863G= (p.Gly3621=)
c.3783G= (p.Gly1261=)
n.139G=
c.279G= (p.Gly93=)
n.2869G=
c.5436G= (p.Gly1812=)
c.*1671G= (n.*1671G=)
c.10767G= (p.Gly3589=)
n.10989G=
c.10737G= (p.Gly3579=)
c.10533G= (p.Gly3511=)
n.12461G=
c.10614G= (p.Gly3538=)
c.10698G= (p.Gly3566=)
c.4430G= (n.4430G=)
c.10650G= (p.Gly3550=)
c.10830G= (p.Gly3610=)
c.4551G= (n.4551G=)
c.10800G= (p.Gly3600=)
c.4329G= (p.Gly1443=)
n.2541G=
n.591G=
c.10938G= (p.Gly3646=)
c.10962G= (p.Gly3654=)
c.10902G= (p.Gly3634=)
c.10899G= (p.Gly3633=)
c.10884G= (p.Gly3628=)
c.10923G= (p.Gly3641=)
c.10842G= (p.Gly3614=)
c.10797G= (p.Gly3599=)
c.10827G= (p.Gly3609=)
c.10803G= (p.Gly3601=)
c.5451G= (p.Gly1817=)
c.5412G= (p.Gly1804=)
c.10926G= (p.Gly3642=)
c.10887G= (p.Gly3629=)
c.10872G= (p.Gly3624=)
c.10833G= (p.Gly3611=)
c.10785G= (p.Gly3595=)
c.10554G= (p.Gly3518=)
c.6591G= (p.Gly2197=)
c.5475G= (p.Gly1825=)
c.10689G= (p.Gly3563=)
7g.92099764G>TCA161898752AKAP9,CYP51A1c.1352-14162C>A (n.1352-14162C>A)
c.10791G>T (p.Gly3597=)
c.10863G>T (p.Gly3621=)
c.3783G>T (p.Gly1261=)
n.139G>T
c.279G>T (p.Gly93=)
n.2869G>T
c.5436G>T (p.Gly1812=)
c.*1671G>T (n.*1671G>T)
c.10767G>T (p.Gly3589=)
n.10989G>T
c.10737G>T (p.Gly3579=)
c.10533G>T (p.Gly3511=)
n.12461G>T
c.10614G>T (p.Gly3538=)
c.10698G>T (p.Gly3566=)
c.4430G>T (n.4430G>T)
c.10650G>T (p.Gly3550=)
c.10830G>T (p.Gly3610=)
c.4551G>T (n.4551G>T)
c.10800G>T (p.Gly3600=)
c.4329G>T (p.Gly1443=)
n.2541G>T
n.591G>T
c.10938G>T (p.Gly3646=)
c.10962G>T (p.Gly3654=)
c.10902G>T (p.Gly3634=)
c.10899G>T (p.Gly3633=)
c.10884G>T (p.Gly3628=)
c.10923G>T (p.Gly3641=)
c.10842G>T (p.Gly3614=)
c.10797G>T (p.Gly3599=)
c.10827G>T (p.Gly3609=)
c.10803G>T (p.Gly3601=)
c.5451G>T (p.Gly1817=)
c.5412G>T (p.Gly1804=)
c.10926G>T (p.Gly3642=)
c.10887G>T (p.Gly3629=)
c.10872G>T (p.Gly3624=)
c.10833G>T (p.Gly3611=)
c.10785G>T (p.Gly3595=)
c.10554G>T (p.Gly3518=)
c.6591G>T (p.Gly2197=)
c.5475G>T (p.Gly1825=)
c.10689G>T (p.Gly3563=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.92099765C>ACA368158643AKAP9,CYP51A1c.1352-14163G>T (n.1352-14163G>T)
c.10792C>A (p.His3598Asn)
c.10864C>A (p.His3622Asn)
c.3784C>A (p.His1262Asn)
n.140C>A
c.280C>A (p.His94Asn)
n.2870C>A
c.5437C>A (p.His1813Asn)
c.*1672C>A (n.*1672C>A)
c.10768C>A (p.His3590Asn)
n.10990C>A
c.10738C>A (p.His3580Asn)
c.10534C>A (p.His3512Asn)
n.12462C>A
c.10615C>A (p.His3539Asn)
c.10699C>A (p.His3567Asn)
c.4431C>A (n.4431C>A)
c.10651C>A (p.His3551Asn)
c.10831C>A (p.His3611Asn)
c.4552C>A (n.4552C>A)
c.10801C>A (p.His3601Asn)
c.4330C>A (p.His1444Asn)
n.2542C>A
n.592C>A
c.10939C>A (p.His3647Asn)
c.10963C>A (p.His3655Asn)
c.10903C>A (p.His3635Asn)
c.10900C>A (p.His3634Asn)
c.10885C>A (p.His3629Asn)
c.10924C>A (p.His3642Asn)
c.10843C>A (p.His3615Asn)
c.10798C>A (p.His3600Asn)
c.10828C>A (p.His3610Asn)
c.10804C>A (p.His3602Asn)
c.5452C>A (p.His1818Asn)
c.5413C>A (p.His1805Asn)
c.10927C>A (p.His3643Asn)
c.10888C>A (p.His3630Asn)
c.10873C>A (p.His3625Asn)
c.10834C>A (p.His3612Asn)
c.10786C>A (p.His3596Asn)
c.10555C>A (p.His3519Asn)
c.6592C>A (p.His2198Asn)
c.5476C>A (p.His1826Asn)
c.10690C>A (p.His3564Asn)
7g.92099765C=CA1725766363AKAP9,CYP51A1c.1352-14163G= (n.1352-14163G=)
c.10792C= (p.His3598=)
c.10864C= (p.His3622=)
c.3784C= (p.His1262=)
n.140C=
c.280C= (p.His94=)
n.2870C=
c.5437C= (p.His1813=)
c.*1672C= (n.*1672C=)
c.10768C= (p.His3590=)
n.10990C=
c.10738C= (p.His3580=)
c.10534C= (p.His3512=)
n.12462C=
c.10615C= (p.His3539=)
c.10699C= (p.His3567=)
c.4431C= (n.4431C=)
c.10651C= (p.His3551=)
c.10831C= (p.His3611=)
c.4552C= (n.4552C=)
c.10801C= (p.His3601=)
c.4330C= (p.His1444=)
n.2542C=
n.592C=
c.10939C= (p.His3647=)
c.10963C= (p.His3655=)
c.10903C= (p.His3635=)
c.10900C= (p.His3634=)
c.10885C= (p.His3629=)
c.10924C= (p.His3642=)
c.10843C= (p.His3615=)
c.10798C= (p.His3600=)
c.10828C= (p.His3610=)
c.10804C= (p.His3602=)
c.5452C= (p.His1818=)
c.5413C= (p.His1805=)
c.10927C= (p.His3643=)
c.10888C= (p.His3630=)
c.10873C= (p.His3625=)
c.10834C= (p.His3612=)
c.10786C= (p.His3596=)
c.10555C= (p.His3519=)
c.6592C= (p.His2198=)
c.5476C= (p.His1826=)
c.10690C= (p.His3564=)
7g.92099765C>GCA368158645AKAP9,CYP51A1c.1352-14163G>C (n.1352-14163G>C)
c.10792C>G (p.His3598Asp)
c.10864C>G (p.His3622Asp)
c.3784C>G (p.His1262Asp)
n.140C>G
c.280C>G (p.His94Asp)
n.2870C>G
c.5437C>G (p.His1813Asp)
c.*1672C>G (n.*1672C>G)
c.10768C>G (p.His3590Asp)
n.10990C>G
c.10738C>G (p.His3580Asp)
c.10534C>G (p.His3512Asp)
n.12462C>G
c.10615C>G (p.His3539Asp)
c.10699C>G (p.His3567Asp)
c.4431C>G (n.4431C>G)
c.10651C>G (p.His3551Asp)
c.10831C>G (p.His3611Asp)
c.4552C>G (n.4552C>G)
c.10801C>G (p.His3601Asp)
c.4330C>G (p.His1444Asp)
n.2542C>G
n.592C>G
c.10939C>G (p.His3647Asp)
c.10963C>G (p.His3655Asp)
c.10903C>G (p.His3635Asp)
c.10900C>G (p.His3634Asp)
c.10885C>G (p.His3629Asp)
c.10924C>G (p.His3642Asp)
c.10843C>G (p.His3615Asp)
c.10798C>G (p.His3600Asp)
c.10828C>G (p.His3610Asp)
c.10804C>G (p.His3602Asp)
c.5452C>G (p.His1818Asp)
c.5413C>G (p.His1805Asp)
c.10927C>G (p.His3643Asp)
c.10888C>G (p.His3630Asp)
c.10873C>G (p.His3625Asp)
c.10834C>G (p.His3612Asp)
c.10786C>G (p.His3596Asp)
c.10555C>G (p.His3519Asp)
c.6592C>G (p.His2198Asp)
c.5476C>G (p.His1826Asp)
c.10690C>G (p.His3564Asp)
7g.92099765C>TCA368158647AKAP9,CYP51A1c.1352-14163G>A (n.1352-14163G>A)
c.10792C>T (p.His3598Tyr)
c.10864C>T (p.His3622Tyr)
c.3784C>T (p.His1262Tyr)
n.140C>T
c.280C>T (p.His94Tyr)
n.2870C>T
c.5437C>T (p.His1813Tyr)
c.*1672C>T (n.*1672C>T)
c.10768C>T (p.His3590Tyr)
n.10990C>T
c.10738C>T (p.His3580Tyr)
c.10534C>T (p.His3512Tyr)
n.12462C>T
c.10615C>T (p.His3539Tyr)
c.10699C>T (p.His3567Tyr)
c.4431C>T (n.4431C>T)
c.10651C>T (p.His3551Tyr)
c.10831C>T (p.His3611Tyr)
c.4552C>T (n.4552C>T)
c.10801C>T (p.His3601Tyr)
c.4330C>T (p.His1444Tyr)
n.2542C>T
n.592C>T
c.10939C>T (p.His3647Tyr)
c.10963C>T (p.His3655Tyr)
c.10903C>T (p.His3635Tyr)
c.10900C>T (p.His3634Tyr)
c.10885C>T (p.His3629Tyr)
c.10924C>T (p.His3642Tyr)
c.10843C>T (p.His3615Tyr)
c.10798C>T (p.His3600Tyr)
c.10828C>T (p.His3610Tyr)
c.10804C>T (p.His3602Tyr)
c.5452C>T (p.His1818Tyr)
c.5413C>T (p.His1805Tyr)
c.10927C>T (p.His3643Tyr)
c.10888C>T (p.His3630Tyr)
c.10873C>T (p.His3625Tyr)
c.10834C>T (p.His3612Tyr)
c.10786C>T (p.His3596Tyr)
c.10555C>T (p.His3519Tyr)
c.6592C>T (p.His2198Tyr)
c.5476C>T (p.His1826Tyr)
c.10690C>T (p.His3564Tyr)
 dbSNP
7g.92099766A=CA1725766366AKAP9,CYP51A1c.1352-14164T= (n.1352-14164T=)
c.10793A= (p.His3598=)
c.10865A= (p.His3622=)
c.3785A= (p.His1262=)
n.141A=
c.281A= (p.His94=)
n.2871A=
c.5438A= (p.His1813=)
c.*1673A= (n.*1673A=)
c.10769A= (p.His3590=)
n.10991A=
c.10739A= (p.His3580=)
c.10535A= (p.His3512=)
n.12463A=
c.10616A= (p.His3539=)
c.10700A= (p.His3567=)
c.4432A= (n.4432A=)
c.10652A= (p.His3551=)
c.10832A= (p.His3611=)
c.4553A= (n.4553A=)
c.10802A= (p.His3601=)
c.4331A= (p.His1444=)
n.2543A=
n.593A=
c.10940A= (p.His3647=)
c.10964A= (p.His3655=)
c.10904A= (p.His3635=)
c.10901A= (p.His3634=)
c.10886A= (p.His3629=)
c.10925A= (p.His3642=)
c.10844A= (p.His3615=)
c.10799A= (p.His3600=)
c.10829A= (p.His3610=)
c.10805A= (p.His3602=)
c.5453A= (p.His1818=)
c.5414A= (p.His1805=)
c.10928A= (p.His3643=)
c.10889A= (p.His3630=)
c.10874A= (p.His3625=)
c.10835A= (p.His3612=)
c.10787A= (p.His3596=)
c.10556A= (p.His3519=)
c.6593A= (p.His2198=)
c.5477A= (p.His1826=)
c.10691A= (p.His3564=)
7g.92099766A>CCA368158649AKAP9,CYP51A1c.1352-14164T>G (n.1352-14164T>G)
c.10793A>C (p.His3598Pro)
c.10865A>C (p.His3622Pro)
c.3785A>C (p.His1262Pro)
n.141A>C
c.281A>C (p.His94Pro)
n.2871A>C
c.5438A>C (p.His1813Pro)
c.*1673A>C (n.*1673A>C)
c.10769A>C (p.His3590Pro)
n.10991A>C
c.10739A>C (p.His3580Pro)
c.10535A>C (p.His3512Pro)
n.12463A>C
c.10616A>C (p.His3539Pro)
c.10700A>C (p.His3567Pro)
c.4432A>C (n.4432A>C)
c.10652A>C (p.His3551Pro)
c.10832A>C (p.His3611Pro)
c.4553A>C (n.4553A>C)
c.10802A>C (p.His3601Pro)
c.4331A>C (p.His1444Pro)
n.2543A>C
n.593A>C
c.10940A>C (p.His3647Pro)
c.10964A>C (p.His3655Pro)
c.10904A>C (p.His3635Pro)
c.10901A>C (p.His3634Pro)
c.10886A>C (p.His3629Pro)
c.10925A>C (p.His3642Pro)
c.10844A>C (p.His3615Pro)
c.10799A>C (p.His3600Pro)
c.10829A>C (p.His3610Pro)
c.10805A>C (p.His3602Pro)
c.5453A>C (p.His1818Pro)
c.5414A>C (p.His1805Pro)
c.10928A>C (p.His3643Pro)
c.10889A>C (p.His3630Pro)
c.10874A>C (p.His3625Pro)
c.10835A>C (p.His3612Pro)
c.10787A>C (p.His3596Pro)
c.10556A>C (p.His3519Pro)
c.6593A>C (p.His2198Pro)
c.5477A>C (p.His1826Pro)
c.10691A>C (p.His3564Pro)
 gnomAD v4
7g.92099766A>GCA4338026AKAP9,CYP51A1c.1352-14164T>C (n.1352-14164T>C)
c.10793A>G (p.His3598Arg)
c.10865A>G (p.His3622Arg)
c.3785A>G (p.His1262Arg)
n.141A>G
c.281A>G (p.His94Arg)
n.2871A>G
c.5438A>G (p.His1813Arg)
c.*1673A>G (n.*1673A>G)
c.10769A>G (p.His3590Arg)
n.10991A>G
c.10739A>G (p.His3580Arg)
c.10535A>G (p.His3512Arg)
n.12463A>G
c.10616A>G (p.His3539Arg)
c.10700A>G (p.His3567Arg)
c.4432A>G (n.4432A>G)
c.10652A>G (p.His3551Arg)
c.10832A>G (p.His3611Arg)
c.4553A>G (n.4553A>G)
c.10802A>G (p.His3601Arg)
c.4331A>G (p.His1444Arg)
n.2543A>G
n.593A>G
c.10940A>G (p.His3647Arg)
c.10964A>G (p.His3655Arg)
c.10904A>G (p.His3635Arg)
c.10901A>G (p.His3634Arg)
c.10886A>G (p.His3629Arg)
c.10925A>G (p.His3642Arg)
c.10844A>G (p.His3615Arg)
c.10799A>G (p.His3600Arg)
c.10829A>G (p.His3610Arg)
c.10805A>G (p.His3602Arg)
c.5453A>G (p.His1818Arg)
c.5414A>G (p.His1805Arg)
c.10928A>G (p.His3643Arg)
c.10889A>G (p.His3630Arg)
c.10874A>G (p.His3625Arg)
c.10835A>G (p.His3612Arg)
c.10787A>G (p.His3596Arg)
c.10556A>G (p.His3519Arg)
c.6593A>G (p.His2198Arg)
c.5477A>G (p.His1826Arg)
c.10691A>G (p.His3564Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.92099766A>TCA368158651AKAP9,CYP51A1c.1352-14164T>A (n.1352-14164T>A)
c.10793A>T (p.His3598Leu)
c.10865A>T (p.His3622Leu)
c.3785A>T (p.His1262Leu)
n.141A>T
c.281A>T (p.His94Leu)
n.2871A>T
c.5438A>T (p.His1813Leu)
c.*1673A>T (n.*1673A>T)
c.10769A>T (p.His3590Leu)
n.10991A>T
c.10739A>T (p.His3580Leu)
c.10535A>T (p.His3512Leu)
n.12463A>T
c.10616A>T (p.His3539Leu)
c.10700A>T (p.His3567Leu)
c.4432A>T (n.4432A>T)
c.10652A>T (p.His3551Leu)
c.10832A>T (p.His3611Leu)
c.4553A>T (n.4553A>T)
c.10802A>T (p.His3601Leu)
c.4331A>T (p.His1444Leu)
n.2543A>T
n.593A>T
c.10940A>T (p.His3647Leu)
c.10964A>T (p.His3655Leu)
c.10904A>T (p.His3635Leu)
c.10901A>T (p.His3634Leu)
c.10886A>T (p.His3629Leu)
c.10925A>T (p.His3642Leu)
c.10844A>T (p.His3615Leu)
c.10799A>T (p.His3600Leu)
c.10829A>T (p.His3610Leu)
c.10805A>T (p.His3602Leu)
c.5453A>T (p.His1818Leu)
c.5414A>T (p.His1805Leu)
c.10928A>T (p.His3643Leu)
c.10889A>T (p.His3630Leu)
c.10874A>T (p.His3625Leu)
c.10835A>T (p.His3612Leu)
c.10787A>T (p.His3596Leu)
c.10556A>T (p.His3519Leu)
c.6593A>T (p.His2198Leu)
c.5477A>T (p.His1826Leu)
c.10691A>T (p.His3564Leu)
7g.92099767T>ACA368158652AKAP9,CYP51A1c.1352-14165A>T (n.1352-14165A>T)
c.10794T>A (p.His3598Gln)
c.10866T>A (p.His3622Gln)
c.3786T>A (p.His1262Gln)
n.142T>A
c.282T>A (p.His94Gln)
n.2872T>A
c.5439T>A (p.His1813Gln)
c.*1674T>A (n.*1674T>A)
c.10770T>A (p.His3590Gln)
n.10992T>A
c.10740T>A (p.His3580Gln)
c.10536T>A (p.His3512Gln)
n.12464T>A
c.10617T>A (p.His3539Gln)
c.10701T>A (p.His3567Gln)
c.4433T>A (n.4433T>A)
c.10653T>A (p.His3551Gln)
c.10833T>A (p.His3611Gln)
c.4554T>A (n.4554T>A)
c.10803T>A (p.His3601Gln)
c.4332T>A (p.His1444Gln)
n.2544T>A
n.594T>A
c.10941T>A (p.His3647Gln)
c.10965T>A (p.His3655Gln)
c.10905T>A (p.His3635Gln)
c.10902T>A (p.His3634Gln)
c.10887T>A (p.His3629Gln)
c.10926T>A (p.His3642Gln)
c.10845T>A (p.His3615Gln)
c.10800T>A (p.His3600Gln)
c.10830T>A (p.His3610Gln)
c.10806T>A (p.His3602Gln)
c.5454T>A (p.His1818Gln)
c.5415T>A (p.His1805Gln)
c.10929T>A (p.His3643Gln)
c.10890T>A (p.His3630Gln)
c.10875T>A (p.His3625Gln)
c.10836T>A (p.His3612Gln)
c.10788T>A (p.His3596Gln)
c.10557T>A (p.His3519Gln)
c.6594T>A (p.His2198Gln)
c.5478T>A (p.His1826Gln)
c.10692T>A (p.His3564Gln)
7g.92099767T>CCA456454162AKAP9,CYP51A1c.1352-14165A>G (n.1352-14165A>G)
c.10794T>C (p.His3598=)
c.10866T>C (p.His3622=)
c.3786T>C (p.His1262=)
n.142T>C
c.282T>C (p.His94=)
n.2872T>C
c.5439T>C (p.His1813=)
c.*1674T>C (n.*1674T>C)
c.10770T>C (p.His3590=)
n.10992T>C
c.10740T>C (p.His3580=)
c.10536T>C (p.His3512=)
n.12464T>C
c.10617T>C (p.His3539=)
c.10701T>C (p.His3567=)
c.4433T>C (n.4433T>C)
c.10653T>C (p.His3551=)
c.10833T>C (p.His3611=)
c.4554T>C (n.4554T>C)
c.10803T>C (p.His3601=)
c.4332T>C (p.His1444=)
n.2544T>C
n.594T>C
c.10941T>C (p.His3647=)
c.10965T>C (p.His3655=)
c.10905T>C (p.His3635=)
c.10902T>C (p.His3634=)
c.10887T>C (p.His3629=)
c.10926T>C (p.His3642=)
c.10845T>C (p.His3615=)
c.10800T>C (p.His3600=)
c.10830T>C (p.His3610=)
c.10806T>C (p.His3602=)
c.5454T>C (p.His1818=)
c.5415T>C (p.His1805=)
c.10929T>C (p.His3643=)
c.10890T>C (p.His3630=)
c.10875T>C (p.His3625=)
c.10836T>C (p.His3612=)
c.10788T>C (p.His3596=)
c.10557T>C (p.His3519=)
c.6594T>C (p.His2198=)
c.5478T>C (p.His1826=)
c.10692T>C (p.His3564=)
7g.92099767T>GCA368158653AKAP9,CYP51A1c.1352-14165A>C (n.1352-14165A>C)
c.10794T>G (p.His3598Gln)
c.10866T>G (p.His3622Gln)
c.3786T>G (p.His1262Gln)
n.142T>G
c.282T>G (p.His94Gln)
n.2872T>G
c.5439T>G (p.His1813Gln)
c.*1674T>G (n.*1674T>G)
c.10770T>G (p.His3590Gln)
n.10992T>G
c.10740T>G (p.His3580Gln)
c.10536T>G (p.His3512Gln)
n.12464T>G
c.10617T>G (p.His3539Gln)
c.10701T>G (p.His3567Gln)
c.4433T>G (n.4433T>G)
c.10653T>G (p.His3551Gln)
c.10833T>G (p.His3611Gln)
c.4554T>G (n.4554T>G)
c.10803T>G (p.His3601Gln)
c.4332T>G (p.His1444Gln)
n.2544T>G
n.594T>G
c.10941T>G (p.His3647Gln)
c.10965T>G (p.His3655Gln)
c.10905T>G (p.His3635Gln)
c.10902T>G (p.His3634Gln)
c.10887T>G (p.His3629Gln)
c.10926T>G (p.His3642Gln)
c.10845T>G (p.His3615Gln)
c.10800T>G (p.His3600Gln)
c.10830T>G (p.His3610Gln)
c.10806T>G (p.His3602Gln)
c.5454T>G (p.His1818Gln)
c.5415T>G (p.His1805Gln)
c.10929T>G (p.His3643Gln)
c.10890T>G (p.His3630Gln)
c.10875T>G (p.His3625Gln)
c.10836T>G (p.His3612Gln)
c.10788T>G (p.His3596Gln)
c.10557T>G (p.His3519Gln)
c.6594T>G (p.His2198Gln)
c.5478T>G (p.His1826Gln)
c.10692T>G (p.His3564Gln)
7g.92099767dupCA576293481AKAP9,CYP51A1c.1352-14165dup (n.1352-14165dup)
c.10794dup (p.Ile3599TyrfsTer6)
c.10866dup (p.Ile3623TyrfsTer6)
c.3786dup (p.Ile1263TyrfsTer6)
n.142dup
c.282dup (p.Ile95TyrfsTer6)
n.2872dup
c.5439dup (p.Ile1814TyrfsTer6)
c.*1674dup (n.*1674dup)
c.10770dup (p.Ile3591TyrfsTer6)
n.10992dup
c.10740dup (p.Ile3581TyrfsTer6)
c.10536dup (p.Ile3513TyrfsTer6)
n.12464dup
c.10617dup (p.Ile3540TyrfsTer6)
c.10701dup (p.Ile3568TyrfsTer6)
c.4433dup (n.4433dup)
c.10653dup (p.Ile3552TyrfsTer6)
c.10833dup (p.Ile3612TyrfsTer6)
c.4554dup (n.4554dup)
c.10803dup (p.Ile3602TyrfsTer6)
c.4332dup (p.Ile1445TyrfsTer6)
n.2544dup
n.594dup
c.10941dup (p.Ile3648TyrfsTer6)
c.10965dup (p.Ile3656TyrfsTer6)
c.10905dup (p.Ile3636TyrfsTer6)
c.10902dup (p.Ile3635TyrfsTer6)
c.10887dup (p.Ile3630TyrfsTer6)
c.10926dup (p.Ile3643TyrfsTer6)
c.10845dup (p.Ile3616TyrfsTer6)
c.10800dup (p.Ile3601TyrfsTer6)
c.10830dup (p.Ile3611TyrfsTer6)
c.10806dup (p.Ile3603TyrfsTer6)
c.5454dup (p.Ile1819TyrfsTer6)
c.5415dup (p.Ile1806TyrfsTer6)
c.10929dup (p.Ile3644TyrfsTer6)
c.10890dup (p.Ile3631TyrfsTer6)
c.10875dup (p.Ile3626TyrfsTer6)
c.10836dup (p.Ile3613TyrfsTer6)
c.10788dup (p.Ile3597TyrfsTer6)
c.10557dup (p.Ile3520TyrfsTer6)
c.6594dup (p.Ile2199TyrfsTer6)
c.5478dup (p.Ile1827TyrfsTer6)
c.10692dup (p.Ile3565TyrfsTer6)
 dbSNP gnomAD v2 gnomAD v4
7g.92099768A=CA1725766378AKAP9,CYP51A1c.1352-14166T= (n.1352-14166T=)
c.10795A= (p.Ile3599=)
c.10867A= (p.Ile3623=)
c.3787A= (p.Ile1263=)
n.143A=
c.283A= (p.Ile95=)
n.2873A=
c.5440A= (p.Ile1814=)
c.*1675A= (n.*1675A=)
c.10771A= (p.Ile3591=)
n.10993A=
c.10741A= (p.Ile3581=)
c.10537A= (p.Ile3513=)
n.12465A=
c.10618A= (p.Ile3540=)
c.10702A= (p.Ile3568=)
c.4434A= (n.4434A=)
c.10654A= (p.Ile3552=)
c.10834A= (p.Ile3612=)
c.4555A= (n.4555A=)
c.10804A= (p.Ile3602=)
c.4333A= (p.Ile1445=)
n.2545A=
n.595A=
c.10942A= (p.Ile3648=)
c.10966A= (p.Ile3656=)
c.10906A= (p.Ile3636=)
c.10903A= (p.Ile3635=)
c.10888A= (p.Ile3630=)
c.10927A= (p.Ile3643=)
c.10846A= (p.Ile3616=)
c.10801A= (p.Ile3601=)
c.10831A= (p.Ile3611=)
c.10807A= (p.Ile3603=)
c.5455A= (p.Ile1819=)
c.5416A= (p.Ile1806=)
c.10930A= (p.Ile3644=)
c.10891A= (p.Ile3631=)
c.10876A= (p.Ile3626=)
c.10837A= (p.Ile3613=)
c.10789A= (p.Ile3597=)
c.10558A= (p.Ile3520=)
c.6595A= (p.Ile2199=)
c.5479A= (p.Ile1827=)
c.10693A= (p.Ile3565=)
7g.92099768A>CCA368158654AKAP9,CYP51A1c.1352-14166T>G (n.1352-14166T>G)
c.10795A>C (p.Ile3599Leu)
c.10867A>C (p.Ile3623Leu)
c.3787A>C (p.Ile1263Leu)
n.143A>C
c.283A>C (p.Ile95Leu)
n.2873A>C
c.5440A>C (p.Ile1814Leu)
c.*1675A>C (n.*1675A>C)
c.10771A>C (p.Ile3591Leu)
n.10993A>C
c.10741A>C (p.Ile3581Leu)
c.10537A>C (p.Ile3513Leu)
n.12465A>C
c.10618A>C (p.Ile3540Leu)
c.10702A>C (p.Ile3568Leu)
c.4434A>C (n.4434A>C)
c.10654A>C (p.Ile3552Leu)
c.10834A>C (p.Ile3612Leu)
c.4555A>C (n.4555A>C)
c.10804A>C (p.Ile3602Leu)
c.4333A>C (p.Ile1445Leu)
n.2545A>C
n.595A>C
c.10942A>C (p.Ile3648Leu)
c.10966A>C (p.Ile3656Leu)
c.10906A>C (p.Ile3636Leu)
c.10903A>C (p.Ile3635Leu)
c.10888A>C (p.Ile3630Leu)
c.10927A>C (p.Ile3643Leu)
c.10846A>C (p.Ile3616Leu)
c.10801A>C (p.Ile3601Leu)
c.10831A>C (p.Ile3611Leu)
c.10807A>C (p.Ile3603Leu)
c.5455A>C (p.Ile1819Leu)
c.5416A>C (p.Ile1806Leu)
c.10930A>C (p.Ile3644Leu)
c.10891A>C (p.Ile3631Leu)
c.10876A>C (p.Ile3626Leu)
c.10837A>C (p.Ile3613Leu)
c.10789A>C (p.Ile3597Leu)
c.10558A>C (p.Ile3520Leu)
c.6595A>C (p.Ile2199Leu)
c.5479A>C (p.Ile1827Leu)
c.10693A>C (p.Ile3565Leu)
7g.92099768A>GCA368158655AKAP9,CYP51A1c.1352-14166T>C (n.1352-14166T>C)
c.10795A>G (p.Ile3599Val)
c.10867A>G (p.Ile3623Val)
c.3787A>G (p.Ile1263Val)
n.143A>G
c.283A>G (p.Ile95Val)
n.2873A>G
c.5440A>G (p.Ile1814Val)
c.*1675A>G (n.*1675A>G)
c.10771A>G (p.Ile3591Val)
n.10993A>G
c.10741A>G (p.Ile3581Val)
c.10537A>G (p.Ile3513Val)
n.12465A>G
c.10618A>G (p.Ile3540Val)
c.10702A>G (p.Ile3568Val)
c.4434A>G (n.4434A>G)
c.10654A>G (p.Ile3552Val)
c.10834A>G (p.Ile3612Val)
c.4555A>G (n.4555A>G)
c.10804A>G (p.Ile3602Val)
c.4333A>G (p.Ile1445Val)
n.2545A>G
n.595A>G
c.10942A>G (p.Ile3648Val)
c.10966A>G (p.Ile3656Val)
c.10906A>G (p.Ile3636Val)
c.10903A>G (p.Ile3635Val)
c.10888A>G (p.Ile3630Val)
c.10927A>G (p.Ile3643Val)
c.10846A>G (p.Ile3616Val)
c.10801A>G (p.Ile3601Val)
c.10831A>G (p.Ile3611Val)
c.10807A>G (p.Ile3603Val)
c.5455A>G (p.Ile1819Val)
c.5416A>G (p.Ile1806Val)
c.10930A>G (p.Ile3644Val)
c.10891A>G (p.Ile3631Val)
c.10876A>G (p.Ile3626Val)
c.10837A>G (p.Ile3613Val)
c.10789A>G (p.Ile3597Val)
c.10558A>G (p.Ile3520Val)
c.6595A>G (p.Ile2199Val)
c.5479A>G (p.Ile1827Val)
c.10693A>G (p.Ile3565Val)
 dbSNP gnomAD v2 gnomAD v4
7g.92099768A>TCA368158657AKAP9,CYP51A1c.1352-14166T>A (n.1352-14166T>A)
c.10795A>T (p.Ile3599Phe)
c.10867A>T (p.Ile3623Phe)
c.3787A>T (p.Ile1263Phe)
n.143A>T
c.283A>T (p.Ile95Phe)
n.2873A>T
c.5440A>T (p.Ile1814Phe)
c.*1675A>T (n.*1675A>T)
c.10771A>T (p.Ile3591Phe)
n.10993A>T
c.10741A>T (p.Ile3581Phe)
c.10537A>T (p.Ile3513Phe)
n.12465A>T
c.10618A>T (p.Ile3540Phe)
c.10702A>T (p.Ile3568Phe)
c.4434A>T (n.4434A>T)
c.10654A>T (p.Ile3552Phe)
c.10834A>T (p.Ile3612Phe)
c.4555A>T (n.4555A>T)
c.10804A>T (p.Ile3602Phe)
c.4333A>T (p.Ile1445Phe)
n.2545A>T
n.595A>T
c.10942A>T (p.Ile3648Phe)
c.10966A>T (p.Ile3656Phe)
c.10906A>T (p.Ile3636Phe)
c.10903A>T (p.Ile3635Phe)
c.10888A>T (p.Ile3630Phe)
c.10927A>T (p.Ile3643Phe)
c.10846A>T (p.Ile3616Phe)
c.10801A>T (p.Ile3601Phe)
c.10831A>T (p.Ile3611Phe)
c.10807A>T (p.Ile3603Phe)
c.5455A>T (p.Ile1819Phe)
c.5416A>T (p.Ile1806Phe)
c.10930A>T (p.Ile3644Phe)
c.10891A>T (p.Ile3631Phe)
c.10876A>T (p.Ile3626Phe)
c.10837A>T (p.Ile3613Phe)
c.10789A>T (p.Ile3597Phe)
c.10558A>T (p.Ile3520Phe)
c.6595A>T (p.Ile2199Phe)
c.5479A>T (p.Ile1827Phe)
c.10693A>T (p.Ile3565Phe)
7g.92099769T>ACA368158663AKAP9,CYP51A1c.1352-14167A>T (n.1352-14167A>T)
c.10796T>A (p.Ile3599Asn)
c.10868T>A (p.Ile3623Asn)
c.3788T>A (p.Ile1263Asn)
n.144T>A
c.284T>A (p.Ile95Asn)
n.2874T>A
c.5441T>A (p.Ile1814Asn)
c.*1676T>A (n.*1676T>A)
c.10772T>A (p.Ile3591Asn)
n.10994T>A
c.10742T>A (p.Ile3581Asn)
c.10538T>A (p.Ile3513Asn)
n.12466T>A
c.10619T>A (p.Ile3540Asn)
c.10703T>A (p.Ile3568Asn)
c.4435T>A (n.4435T>A)
c.10655T>A (p.Ile3552Asn)
c.10835T>A (p.Ile3612Asn)
c.4556T>A (n.4556T>A)
c.10805T>A (p.Ile3602Asn)
c.4334T>A (p.Ile1445Asn)
n.2546T>A
n.596T>A
c.10943T>A (p.Ile3648Asn)
c.10967T>A (p.Ile3656Asn)
c.10907T>A (p.Ile3636Asn)
c.10904T>A (p.Ile3635Asn)
c.10889T>A (p.Ile3630Asn)
c.10928T>A (p.Ile3643Asn)
c.10847T>A (p.Ile3616Asn)
c.10802T>A (p.Ile3601Asn)
c.10832T>A (p.Ile3611Asn)
c.10808T>A (p.Ile3603Asn)
c.5456T>A (p.Ile1819Asn)
c.5417T>A (p.Ile1806Asn)
c.10931T>A (p.Ile3644Asn)
c.10892T>A (p.Ile3631Asn)
c.10877T>A (p.Ile3626Asn)
c.10838T>A (p.Ile3613Asn)
c.10790T>A (p.Ile3597Asn)
c.10559T>A (p.Ile3520Asn)
c.6596T>A (p.Ile2199Asn)
c.5480T>A (p.Ile1827Asn)
c.10694T>A (p.Ile3565Asn)
7g.92099769T>CCA368158660AKAP9,CYP51A1c.1352-14167A>G (n.1352-14167A>G)
c.10796T>C (p.Ile3599Thr)
c.10868T>C (p.Ile3623Thr)
c.3788T>C (p.Ile1263Thr)
n.144T>C
c.284T>C (p.Ile95Thr)
n.2874T>C
c.5441T>C (p.Ile1814Thr)
c.*1676T>C (n.*1676T>C)
c.10772T>C (p.Ile3591Thr)
n.10994T>C
c.10742T>C (p.Ile3581Thr)
c.10538T>C (p.Ile3513Thr)
n.12466T>C
c.10619T>C (p.Ile3540Thr)
c.10703T>C (p.Ile3568Thr)
c.4435T>C (n.4435T>C)
c.10655T>C (p.Ile3552Thr)
c.10835T>C (p.Ile3612Thr)
c.4556T>C (n.4556T>C)
c.10805T>C (p.Ile3602Thr)
c.4334T>C (p.Ile1445Thr)
n.2546T>C
n.596T>C
c.10943T>C (p.Ile3648Thr)
c.10967T>C (p.Ile3656Thr)
c.10907T>C (p.Ile3636Thr)
c.10904T>C (p.Ile3635Thr)
c.10889T>C (p.Ile3630Thr)
c.10928T>C (p.Ile3643Thr)
c.10847T>C (p.Ile3616Thr)
c.10802T>C (p.Ile3601Thr)
c.10832T>C (p.Ile3611Thr)
c.10808T>C (p.Ile3603Thr)
c.5456T>C (p.Ile1819Thr)
c.5417T>C (p.Ile1806Thr)
c.10931T>C (p.Ile3644Thr)
c.10892T>C (p.Ile3631Thr)
c.10877T>C (p.Ile3626Thr)
c.10838T>C (p.Ile3613Thr)
c.10790T>C (p.Ile3597Thr)
c.10559T>C (p.Ile3520Thr)
c.6596T>C (p.Ile2199Thr)
c.5480T>C (p.Ile1827Thr)
c.10694T>C (p.Ile3565Thr)
 ClinVar dbSNP
7g.92099769T>GCA368158658AKAP9,CYP51A1c.1352-14167A>C (n.1352-14167A>C)
c.10796T>G (p.Ile3599Ser)
c.10868T>G (p.Ile3623Ser)
c.3788T>G (p.Ile1263Ser)
n.144T>G
c.284T>G (p.Ile95Ser)
n.2874T>G
c.5441T>G (p.Ile1814Ser)
c.*1676T>G (n.*1676T>G)
c.10772T>G (p.Ile3591Ser)
n.10994T>G
c.10742T>G (p.Ile3581Ser)
c.10538T>G (p.Ile3513Ser)
n.12466T>G
c.10619T>G (p.Ile3540Ser)
c.10703T>G (p.Ile3568Ser)
c.4435T>G (n.4435T>G)
c.10655T>G (p.Ile3552Ser)
c.10835T>G (p.Ile3612Ser)
c.4556T>G (n.4556T>G)
c.10805T>G (p.Ile3602Ser)
c.4334T>G (p.Ile1445Ser)
n.2546T>G
n.596T>G
c.10943T>G (p.Ile3648Ser)
c.10967T>G (p.Ile3656Ser)
c.10907T>G (p.Ile3636Ser)
c.10904T>G (p.Ile3635Ser)
c.10889T>G (p.Ile3630Ser)
c.10928T>G (p.Ile3643Ser)
c.10847T>G (p.Ile3616Ser)
c.10802T>G (p.Ile3601Ser)
c.10832T>G (p.Ile3611Ser)
c.10808T>G (p.Ile3603Ser)
c.5456T>G (p.Ile1819Ser)
c.5417T>G (p.Ile1806Ser)
c.10931T>G (p.Ile3644Ser)
c.10892T>G (p.Ile3631Ser)
c.10877T>G (p.Ile3626Ser)
c.10838T>G (p.Ile3613Ser)
c.10790T>G (p.Ile3597Ser)
c.10559T>G (p.Ile3520Ser)
c.6596T>G (p.Ile2199Ser)
c.5480T>G (p.Ile1827Ser)
c.10694T>G (p.Ile3565Ser)
7g.92099769T=CA1725766381AKAP9,CYP51A1c.1352-14167A= (n.1352-14167A=)
c.10796T= (p.Ile3599=)
c.10868T= (p.Ile3623=)
c.3788T= (p.Ile1263=)
n.144T=
c.284T= (p.Ile95=)
n.2874T=
c.5441T= (p.Ile1814=)
c.*1676T= (n.*1676T=)
c.10772T= (p.Ile3591=)
n.10994T=
c.10742T= (p.Ile3581=)
c.10538T= (p.Ile3513=)
n.12466T=
c.10619T= (p.Ile3540=)
c.10703T= (p.Ile3568=)
c.4435T= (n.4435T=)
c.10655T= (p.Ile3552=)
c.10835T= (p.Ile3612=)
c.4556T= (n.4556T=)
c.10805T= (p.Ile3602=)
c.4334T= (p.Ile1445=)
n.2546T=
n.596T=
c.10943T= (p.Ile3648=)
c.10967T= (p.Ile3656=)
c.10907T= (p.Ile3636=)
c.10904T= (p.Ile3635=)
c.10889T= (p.Ile3630=)
c.10928T= (p.Ile3643=)
c.10847T= (p.Ile3616=)
c.10802T= (p.Ile3601=)
c.10832T= (p.Ile3611=)
c.10808T= (p.Ile3603=)
c.5456T= (p.Ile1819=)
c.5417T= (p.Ile1806=)
c.10931T= (p.Ile3644=)
c.10892T= (p.Ile3631=)
c.10877T= (p.Ile3626=)
c.10838T= (p.Ile3613=)
c.10790T= (p.Ile3597=)
c.10559T= (p.Ile3520=)
c.6596T= (p.Ile2199=)
c.5480T= (p.Ile1827=)
c.10694T= (p.Ile3565=)
7g.92099770C>ACA456454166AKAP9,CYP51A1c.1352-14168G>T (n.1352-14168G>T)
c.10797C>A (p.Ile3599=)
c.10869C>A (p.Ile3623=)
c.3789C>A (p.Ile1263=)
n.145C>A
c.285C>A (p.Ile95=)
n.2875C>A
c.5442C>A (p.Ile1814=)
c.*1677C>A (n.*1677C>A)
c.10773C>A (p.Ile3591=)
n.10995C>A
c.10743C>A (p.Ile3581=)
c.10539C>A (p.Ile3513=)
n.12467C>A
c.10620C>A (p.Ile3540=)
c.10704C>A (p.Ile3568=)
c.4436C>A (n.4436C>A)
c.10656C>A (p.Ile3552=)
c.10836C>A (p.Ile3612=)
c.4557C>A (n.4557C>A)
c.10806C>A (p.Ile3602=)
c.4335C>A (p.Ile1445=)
n.2547C>A
n.597C>A
c.10944C>A (p.Ile3648=)
c.10968C>A (p.Ile3656=)
c.10908C>A (p.Ile3636=)
c.10905C>A (p.Ile3635=)
c.10890C>A (p.Ile3630=)
c.10929C>A (p.Ile3643=)
c.10848C>A (p.Ile3616=)
c.10803C>A (p.Ile3601=)
c.10833C>A (p.Ile3611=)
c.10809C>A (p.Ile3603=)
c.5457C>A (p.Ile1819=)
c.5418C>A (p.Ile1806=)
c.10932C>A (p.Ile3644=)
c.10893C>A (p.Ile3631=)
c.10878C>A (p.Ile3626=)
c.10839C>A (p.Ile3613=)
c.10791C>A (p.Ile3597=)
c.10560C>A (p.Ile3520=)
c.6597C>A (p.Ile2199=)
c.5481C>A (p.Ile1827=)
c.10695C>A (p.Ile3565=)
7g.92099770C>GCA368158666AKAP9,CYP51A1c.1352-14168G>C (n.1352-14168G>C)
c.10797C>G (p.Ile3599Met)
c.10869C>G (p.Ile3623Met)
c.3789C>G (p.Ile1263Met)
n.145C>G
c.285C>G (p.Ile95Met)
n.2875C>G
c.5442C>G (p.Ile1814Met)
c.*1677C>G (n.*1677C>G)
c.10773C>G (p.Ile3591Met)
n.10995C>G
c.10743C>G (p.Ile3581Met)
c.10539C>G (p.Ile3513Met)
n.12467C>G
c.10620C>G (p.Ile3540Met)
c.10704C>G (p.Ile3568Met)
c.4436C>G (n.4436C>G)
c.10656C>G (p.Ile3552Met)
c.10836C>G (p.Ile3612Met)
c.4557C>G (n.4557C>G)
c.10806C>G (p.Ile3602Met)
c.4335C>G (p.Ile1445Met)
n.2547C>G
n.597C>G
c.10944C>G (p.Ile3648Met)
c.10968C>G (p.Ile3656Met)
c.10908C>G (p.Ile3636Met)
c.10905C>G (p.Ile3635Met)
c.10890C>G (p.Ile3630Met)
c.10929C>G (p.Ile3643Met)
c.10848C>G (p.Ile3616Met)
c.10803C>G (p.Ile3601Met)
c.10833C>G (p.Ile3611Met)
c.10809C>G (p.Ile3603Met)
c.5457C>G (p.Ile1819Met)
c.5418C>G (p.Ile1806Met)
c.10932C>G (p.Ile3644Met)
c.10893C>G (p.Ile3631Met)
c.10878C>G (p.Ile3626Met)
c.10839C>G (p.Ile3613Met)
c.10791C>G (p.Ile3597Met)
c.10560C>G (p.Ile3520Met)
c.6597C>G (p.Ile2199Met)
c.5481C>G (p.Ile1827Met)
c.10695C>G (p.Ile3565Met)
7g.92099770C>TCA456454167AKAP9,CYP51A1c.1352-14168G>A (n.1352-14168G>A)
c.10797C>T (p.Ile3599=)
c.10869C>T (p.Ile3623=)
c.3789C>T (p.Ile1263=)
n.145C>T
c.285C>T (p.Ile95=)
n.2875C>T
c.5442C>T (p.Ile1814=)
c.*1677C>T (n.*1677C>T)
c.10773C>T (p.Ile3591=)
n.10995C>T
c.10743C>T (p.Ile3581=)
c.10539C>T (p.Ile3513=)
n.12467C>T
c.10620C>T (p.Ile3540=)
c.10704C>T (p.Ile3568=)
c.4436C>T (n.4436C>T)
c.10656C>T (p.Ile3552=)
c.10836C>T (p.Ile3612=)
c.4557C>T (n.4557C>T)
c.10806C>T (p.Ile3602=)
c.4335C>T (p.Ile1445=)
n.2547C>T
n.597C>T
c.10944C>T (p.Ile3648=)
c.10968C>T (p.Ile3656=)
c.10908C>T (p.Ile3636=)
c.10905C>T (p.Ile3635=)
c.10890C>T (p.Ile3630=)
c.10929C>T (p.Ile3643=)
c.10848C>T (p.Ile3616=)
c.10803C>T (p.Ile3601=)
c.10833C>T (p.Ile3611=)
c.10809C>T (p.Ile3603=)
c.5457C>T (p.Ile1819=)
c.5418C>T (p.Ile1806=)
c.10932C>T (p.Ile3644=)
c.10893C>T (p.Ile3631=)
c.10878C>T (p.Ile3626=)
c.10839C>T (p.Ile3613=)
c.10791C>T (p.Ile3597=)
c.10560C>T (p.Ile3520=)
c.6597C>T (p.Ile2199=)
c.5481C>T (p.Ile1827=)
c.10695C>T (p.Ile3565=)
7g.92099771A=CA1725766386AKAP9,CYP51A1c.1352-14169T= (n.1352-14169T=)
c.10798A= (p.Ser3600=)
c.10870A= (p.Ser3624=)
c.3790A= (p.Ser1264=)
n.146A=
c.286A= (p.Ser96=)
n.2876A=
c.5443A= (p.Ser1815=)
c.*1678A= (n.*1678A=)
c.10774A= (p.Ser3592=)
n.10996A=
c.10744A= (p.Ser3582=)
c.10540A= (p.Ser3514=)
n.12468A=
c.10621A= (p.Ser3541=)
c.10705A= (p.Ser3569=)
c.4437A= (n.4437A=)
c.10657A= (p.Ser3553=)
c.10837A= (p.Ser3613=)
c.4558A= (n.4558A=)
c.10807A= (p.Ser3603=)
c.4336A= (p.Ser1446=)
n.2548A=
n.598A=
c.10945A= (p.Ser3649=)
c.10969A= (p.Ser3657=)
c.10909A= (p.Ser3637=)
c.10906A= (p.Ser3636=)
c.10891A= (p.Ser3631=)
c.10930A= (p.Ser3644=)
c.10849A= (p.Ser3617=)
c.10804A= (p.Ser3602=)
c.10834A= (p.Ser3612=)
c.10810A= (p.Ser3604=)
c.5458A= (p.Ser1820=)
c.5419A= (p.Ser1807=)
c.10933A= (p.Ser3645=)
c.10894A= (p.Ser3632=)
c.10879A= (p.Ser3627=)
c.10840A= (p.Ser3614=)
c.10792A= (p.Ser3598=)
c.10561A= (p.Ser3521=)
c.6598A= (p.Ser2200=)
c.5482A= (p.Ser1828=)
c.10696A= (p.Ser3566=)
7g.92099771A>CCA368158668AKAP9,CYP51A1c.1352-14169T>G (n.1352-14169T>G)
c.10798A>C (p.Ser3600Arg)
c.10870A>C (p.Ser3624Arg)
c.3790A>C (p.Ser1264Arg)
n.146A>C
c.286A>C (p.Ser96Arg)
n.2876A>C
c.5443A>C (p.Ser1815Arg)
c.*1678A>C (n.*1678A>C)
c.10774A>C (p.Ser3592Arg)
n.10996A>C
c.10744A>C (p.Ser3582Arg)
c.10540A>C (p.Ser3514Arg)
n.12468A>C
c.10621A>C (p.Ser3541Arg)
c.10705A>C (p.Ser3569Arg)
c.4437A>C (n.4437A>C)
c.10657A>C (p.Ser3553Arg)
c.10837A>C (p.Ser3613Arg)
c.4558A>C (n.4558A>C)
c.10807A>C (p.Ser3603Arg)
c.4336A>C (p.Ser1446Arg)
n.2548A>C
n.598A>C
c.10945A>C (p.Ser3649Arg)
c.10969A>C (p.Ser3657Arg)
c.10909A>C (p.Ser3637Arg)
c.10906A>C (p.Ser3636Arg)
c.10891A>C (p.Ser3631Arg)
c.10930A>C (p.Ser3644Arg)
c.10849A>C (p.Ser3617Arg)
c.10804A>C (p.Ser3602Arg)
c.10834A>C (p.Ser3612Arg)
c.10810A>C (p.Ser3604Arg)
c.5458A>C (p.Ser1820Arg)
c.5419A>C (p.Ser1807Arg)
c.10933A>C (p.Ser3645Arg)
c.10894A>C (p.Ser3632Arg)
c.10879A>C (p.Ser3627Arg)
c.10840A>C (p.Ser3614Arg)
c.10792A>C (p.Ser3598Arg)
c.10561A>C (p.Ser3521Arg)
c.6598A>C (p.Ser2200Arg)
c.5482A>C (p.Ser1828Arg)
c.10696A>C (p.Ser3566Arg)
7g.92099771A>GCA4338027AKAP9,CYP51A1c.1352-14169T>C (n.1352-14169T>C)
c.10798A>G (p.Ser3600Gly)
c.10870A>G (p.Ser3624Gly)
c.3790A>G (p.Ser1264Gly)
n.146A>G
c.286A>G (p.Ser96Gly)
n.2876A>G
c.5443A>G (p.Ser1815Gly)
c.*1678A>G (n.*1678A>G)
c.10774A>G (p.Ser3592Gly)
n.10996A>G
c.10744A>G (p.Ser3582Gly)
c.10540A>G (p.Ser3514Gly)
n.12468A>G
c.10621A>G (p.Ser3541Gly)
c.10705A>G (p.Ser3569Gly)
c.4437A>G (n.4437A>G)
c.10657A>G (p.Ser3553Gly)
c.10837A>G (p.Ser3613Gly)
c.4558A>G (n.4558A>G)
c.10807A>G (p.Ser3603Gly)
c.4336A>G (p.Ser1446Gly)
n.2548A>G
n.598A>G
c.10945A>G (p.Ser3649Gly)
c.10969A>G (p.Ser3657Gly)
c.10909A>G (p.Ser3637Gly)
c.10906A>G (p.Ser3636Gly)
c.10891A>G (p.Ser3631Gly)
c.10930A>G (p.Ser3644Gly)
c.10849A>G (p.Ser3617Gly)
c.10804A>G (p.Ser3602Gly)
c.10834A>G (p.Ser3612Gly)
c.10810A>G (p.Ser3604Gly)
c.5458A>G (p.Ser1820Gly)
c.5419A>G (p.Ser1807Gly)
c.10933A>G (p.Ser3645Gly)
c.10894A>G (p.Ser3632Gly)
c.10879A>G (p.Ser3627Gly)
c.10840A>G (p.Ser3614Gly)
c.10792A>G (p.Ser3598Gly)
c.10561A>G (p.Ser3521Gly)
c.6598A>G (p.Ser2200Gly)
c.5482A>G (p.Ser1828Gly)
c.10696A>G (p.Ser3566Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099771A>TCA368158681AKAP9,CYP51A1c.1352-14169T>A (n.1352-14169T>A)
c.10798A>T (p.Ser3600Cys)
c.10870A>T (p.Ser3624Cys)
c.3790A>T (p.Ser1264Cys)
n.146A>T
c.286A>T (p.Ser96Cys)
n.2876A>T
c.5443A>T (p.Ser1815Cys)
c.*1678A>T (n.*1678A>T)
c.10774A>T (p.Ser3592Cys)
n.10996A>T
c.10744A>T (p.Ser3582Cys)
c.10540A>T (p.Ser3514Cys)
n.12468A>T
c.10621A>T (p.Ser3541Cys)
c.10705A>T (p.Ser3569Cys)
c.4437A>T (n.4437A>T)
c.10657A>T (p.Ser3553Cys)
c.10837A>T (p.Ser3613Cys)
c.4558A>T (n.4558A>T)
c.10807A>T (p.Ser3603Cys)
c.4336A>T (p.Ser1446Cys)
n.2548A>T
n.598A>T
c.10945A>T (p.Ser3649Cys)
c.10969A>T (p.Ser3657Cys)
c.10909A>T (p.Ser3637Cys)
c.10906A>T (p.Ser3636Cys)
c.10891A>T (p.Ser3631Cys)
c.10930A>T (p.Ser3644Cys)
c.10849A>T (p.Ser3617Cys)
c.10804A>T (p.Ser3602Cys)
c.10834A>T (p.Ser3612Cys)
c.10810A>T (p.Ser3604Cys)
c.5458A>T (p.Ser1820Cys)
c.5419A>T (p.Ser1807Cys)
c.10933A>T (p.Ser3645Cys)
c.10894A>T (p.Ser3632Cys)
c.10879A>T (p.Ser3627Cys)
c.10840A>T (p.Ser3614Cys)
c.10792A>T (p.Ser3598Cys)
c.10561A>T (p.Ser3521Cys)
c.6598A>T (p.Ser2200Cys)
c.5482A>T (p.Ser1828Cys)
c.10696A>T (p.Ser3566Cys)
7g.92099772G>ACA368158683AKAP9,CYP51A1c.1352-14170C>T (n.1352-14170C>T)
c.10799G>A (p.Ser3600Asn)
c.10871G>A (p.Ser3624Asn)
c.3791G>A (p.Ser1264Asn)
n.147G>A
c.287G>A (p.Ser96Asn)
n.2877G>A
c.5444G>A (p.Ser1815Asn)
c.*1679G>A (n.*1679G>A)
c.10775G>A (p.Ser3592Asn)
n.10997G>A
c.10745G>A (p.Ser3582Asn)
c.10541G>A (p.Ser3514Asn)
n.12469G>A
c.10622G>A (p.Ser3541Asn)
c.10706G>A (p.Ser3569Asn)
c.4438G>A (n.4438G>A)
c.10658G>A (p.Ser3553Asn)
c.10838G>A (p.Ser3613Asn)
c.4559G>A (n.4559G>A)
c.10808G>A (p.Ser3603Asn)
c.4337G>A (p.Ser1446Asn)
n.2549G>A
n.599G>A
c.10946G>A (p.Ser3649Asn)
c.10970G>A (p.Ser3657Asn)
c.10910G>A (p.Ser3637Asn)
c.10907G>A (p.Ser3636Asn)
c.10892G>A (p.Ser3631Asn)
c.10931G>A (p.Ser3644Asn)
c.10850G>A (p.Ser3617Asn)
c.10805G>A (p.Ser3602Asn)
c.10835G>A (p.Ser3612Asn)
c.10811G>A (p.Ser3604Asn)
c.5459G>A (p.Ser1820Asn)
c.5420G>A (p.Ser1807Asn)
c.10934G>A (p.Ser3645Asn)
c.10895G>A (p.Ser3632Asn)
c.10880G>A (p.Ser3627Asn)
c.10841G>A (p.Ser3614Asn)
c.10793G>A (p.Ser3598Asn)
c.10562G>A (p.Ser3521Asn)
c.6599G>A (p.Ser2200Asn)
c.5483G>A (p.Ser1828Asn)
c.10697G>A (p.Ser3566Asn)
 ClinVar gnomAD v4 COSMIC COSMIC
7g.92099772G>CCA368158684AKAP9,CYP51A1c.1352-14170C>G (n.1352-14170C>G)
c.10799G>C (p.Ser3600Thr)
c.10871G>C (p.Ser3624Thr)
c.3791G>C (p.Ser1264Thr)
n.147G>C
c.287G>C (p.Ser96Thr)
n.2877G>C
c.5444G>C (p.Ser1815Thr)
c.*1679G>C (n.*1679G>C)
c.10775G>C (p.Ser3592Thr)
n.10997G>C
c.10745G>C (p.Ser3582Thr)
c.10541G>C (p.Ser3514Thr)
n.12469G>C
c.10622G>C (p.Ser3541Thr)
c.10706G>C (p.Ser3569Thr)
c.4438G>C (n.4438G>C)
c.10658G>C (p.Ser3553Thr)
c.10838G>C (p.Ser3613Thr)
c.4559G>C (n.4559G>C)
c.10808G>C (p.Ser3603Thr)
c.4337G>C (p.Ser1446Thr)
n.2549G>C
n.599G>C
c.10946G>C (p.Ser3649Thr)
c.10970G>C (p.Ser3657Thr)
c.10910G>C (p.Ser3637Thr)
c.10907G>C (p.Ser3636Thr)
c.10892G>C (p.Ser3631Thr)
c.10931G>C (p.Ser3644Thr)
c.10850G>C (p.Ser3617Thr)
c.10805G>C (p.Ser3602Thr)
c.10835G>C (p.Ser3612Thr)
c.10811G>C (p.Ser3604Thr)
c.5459G>C (p.Ser1820Thr)
c.5420G>C (p.Ser1807Thr)
c.10934G>C (p.Ser3645Thr)
c.10895G>C (p.Ser3632Thr)
c.10880G>C (p.Ser3627Thr)
c.10841G>C (p.Ser3614Thr)
c.10793G>C (p.Ser3598Thr)
c.10562G>C (p.Ser3521Thr)
c.6599G>C (p.Ser2200Thr)
c.5483G>C (p.Ser1828Thr)
c.10697G>C (p.Ser3566Thr)
7g.92099772G>TCA368158686AKAP9,CYP51A1c.1352-14170C>A (n.1352-14170C>A)
c.10799G>T (p.Ser3600Ile)
c.10871G>T (p.Ser3624Ile)
c.3791G>T (p.Ser1264Ile)
n.147G>T
c.287G>T (p.Ser96Ile)
n.2877G>T
c.5444G>T (p.Ser1815Ile)
c.*1679G>T (n.*1679G>T)
c.10775G>T (p.Ser3592Ile)
n.10997G>T
c.10745G>T (p.Ser3582Ile)
c.10541G>T (p.Ser3514Ile)
n.12469G>T
c.10622G>T (p.Ser3541Ile)
c.10706G>T (p.Ser3569Ile)
c.4438G>T (n.4438G>T)
c.10658G>T (p.Ser3553Ile)
c.10838G>T (p.Ser3613Ile)
c.4559G>T (n.4559G>T)
c.10808G>T (p.Ser3603Ile)
c.4337G>T (p.Ser1446Ile)
n.2549G>T
n.599G>T
c.10946G>T (p.Ser3649Ile)
c.10970G>T (p.Ser3657Ile)
c.10910G>T (p.Ser3637Ile)
c.10907G>T (p.Ser3636Ile)
c.10892G>T (p.Ser3631Ile)
c.10931G>T (p.Ser3644Ile)
c.10850G>T (p.Ser3617Ile)
c.10805G>T (p.Ser3602Ile)
c.10835G>T (p.Ser3612Ile)
c.10811G>T (p.Ser3604Ile)
c.5459G>T (p.Ser1820Ile)
c.5420G>T (p.Ser1807Ile)
c.10934G>T (p.Ser3645Ile)
c.10895G>T (p.Ser3632Ile)
c.10880G>T (p.Ser3627Ile)
c.10841G>T (p.Ser3614Ile)
c.10793G>T (p.Ser3598Ile)
c.10562G>T (p.Ser3521Ile)
c.6599G>T (p.Ser2200Ile)
c.5483G>T (p.Ser1828Ile)
c.10697G>T (p.Ser3566Ile)
7g.92099773T>ACA368158688AKAP9,CYP51A1c.1352-14171A>T (n.1352-14171A>T)
c.10800T>A (p.Ser3600Arg)
c.10872T>A (p.Ser3624Arg)
c.3792T>A (p.Ser1264Arg)
n.148T>A
c.288T>A (p.Ser96Arg)
n.2878T>A
c.5445T>A (p.Ser1815Arg)
c.*1680T>A (n.*1680T>A)
c.10776T>A (p.Ser3592Arg)
n.10998T>A
c.10746T>A (p.Ser3582Arg)
c.10542T>A (p.Ser3514Arg)
n.12470T>A
c.10623T>A (p.Ser3541Arg)
c.10707T>A (p.Ser3569Arg)
c.4439T>A (n.4439T>A)
c.10659T>A (p.Ser3553Arg)
c.10839T>A (p.Ser3613Arg)
c.4560T>A (n.4560T>A)
c.10809T>A (p.Ser3603Arg)
c.4338T>A (p.Ser1446Arg)
n.2550T>A
n.600T>A
c.10947T>A (p.Ser3649Arg)
c.10971T>A (p.Ser3657Arg)
c.10911T>A (p.Ser3637Arg)
c.10908T>A (p.Ser3636Arg)
c.10893T>A (p.Ser3631Arg)
c.10932T>A (p.Ser3644Arg)
c.10851T>A (p.Ser3617Arg)
c.10806T>A (p.Ser3602Arg)
c.10836T>A (p.Ser3612Arg)
c.10812T>A (p.Ser3604Arg)
c.5460T>A (p.Ser1820Arg)
c.5421T>A (p.Ser1807Arg)
c.10935T>A (p.Ser3645Arg)
c.10896T>A (p.Ser3632Arg)
c.10881T>A (p.Ser3627Arg)
c.10842T>A (p.Ser3614Arg)
c.10794T>A (p.Ser3598Arg)
c.10563T>A (p.Ser3521Arg)
c.6600T>A (p.Ser2200Arg)
c.5484T>A (p.Ser1828Arg)
c.10698T>A (p.Ser3566Arg)
7g.92099773T>CCA456454172AKAP9,CYP51A1c.1352-14171A>G (n.1352-14171A>G)
c.10800T>C (p.Ser3600=)
c.10872T>C (p.Ser3624=)
c.3792T>C (p.Ser1264=)
n.148T>C
c.288T>C (p.Ser96=)
n.2878T>C
c.5445T>C (p.Ser1815=)
c.*1680T>C (n.*1680T>C)
c.10776T>C (p.Ser3592=)
n.10998T>C
c.10746T>C (p.Ser3582=)
c.10542T>C (p.Ser3514=)
n.12470T>C
c.10623T>C (p.Ser3541=)
c.10707T>C (p.Ser3569=)
c.4439T>C (n.4439T>C)
c.10659T>C (p.Ser3553=)
c.10839T>C (p.Ser3613=)
c.4560T>C (n.4560T>C)
c.10809T>C (p.Ser3603=)
c.4338T>C (p.Ser1446=)
n.2550T>C
n.600T>C
c.10947T>C (p.Ser3649=)
c.10971T>C (p.Ser3657=)
c.10911T>C (p.Ser3637=)
c.10908T>C (p.Ser3636=)
c.10893T>C (p.Ser3631=)
c.10932T>C (p.Ser3644=)
c.10851T>C (p.Ser3617=)
c.10806T>C (p.Ser3602=)
c.10836T>C (p.Ser3612=)
c.10812T>C (p.Ser3604=)
c.5460T>C (p.Ser1820=)
c.5421T>C (p.Ser1807=)
c.10935T>C (p.Ser3645=)
c.10896T>C (p.Ser3632=)
c.10881T>C (p.Ser3627=)
c.10842T>C (p.Ser3614=)
c.10794T>C (p.Ser3598=)
c.10563T>C (p.Ser3521=)
c.6600T>C (p.Ser2200=)
c.5484T>C (p.Ser1828=)
c.10698T>C (p.Ser3566=)
7g.92099773T>GCA368158690AKAP9,CYP51A1c.1352-14171A>C (n.1352-14171A>C)
c.10800T>G (p.Ser3600Arg)
c.10872T>G (p.Ser3624Arg)
c.3792T>G (p.Ser1264Arg)
n.148T>G
c.288T>G (p.Ser96Arg)
n.2878T>G
c.5445T>G (p.Ser1815Arg)
c.*1680T>G (n.*1680T>G)
c.10776T>G (p.Ser3592Arg)
n.10998T>G
c.10746T>G (p.Ser3582Arg)
c.10542T>G (p.Ser3514Arg)
n.12470T>G
c.10623T>G (p.Ser3541Arg)
c.10707T>G (p.Ser3569Arg)
c.4439T>G (n.4439T>G)
c.10659T>G (p.Ser3553Arg)
c.10839T>G (p.Ser3613Arg)
c.4560T>G (n.4560T>G)
c.10809T>G (p.Ser3603Arg)
c.4338T>G (p.Ser1446Arg)
n.2550T>G
n.600T>G
c.10947T>G (p.Ser3649Arg)
c.10971T>G (p.Ser3657Arg)
c.10911T>G (p.Ser3637Arg)
c.10908T>G (p.Ser3636Arg)
c.10893T>G (p.Ser3631Arg)
c.10932T>G (p.Ser3644Arg)
c.10851T>G (p.Ser3617Arg)
c.10806T>G (p.Ser3602Arg)
c.10836T>G (p.Ser3612Arg)
c.10812T>G (p.Ser3604Arg)
c.5460T>G (p.Ser1820Arg)
c.5421T>G (p.Ser1807Arg)
c.10935T>G (p.Ser3645Arg)
c.10896T>G (p.Ser3632Arg)
c.10881T>G (p.Ser3627Arg)
c.10842T>G (p.Ser3614Arg)
c.10794T>G (p.Ser3598Arg)
c.10563T>G (p.Ser3521Arg)
c.6600T>G (p.Ser2200Arg)
c.5484T>G (p.Ser1828Arg)
c.10698T>G (p.Ser3566Arg)
7g.92099774C>ACA368158693AKAP9,CYP51A1c.1352-14172G>T (n.1352-14172G>T)
c.10801C>A (p.Gln3601Lys)
c.10873C>A (p.Gln3625Lys)
c.3793C>A (p.Gln1265Lys)
n.149C>A
c.289C>A (p.Gln97Lys)
n.2879C>A
c.5446C>A (p.Gln1816Lys)
c.*1681C>A (n.*1681C>A)
c.10777C>A (p.Gln3593Lys)
n.10999C>A
c.10747C>A (p.Gln3583Lys)
c.10543C>A (p.Gln3515Lys)
n.12471C>A
c.10624C>A (p.Gln3542Lys)
c.10708C>A (p.Gln3570Lys)
c.4440C>A (n.4440C>A)
c.10660C>A (p.Gln3554Lys)
c.10840C>A (p.Gln3614Lys)
c.4561C>A (n.4561C>A)
c.10810C>A (p.Gln3604Lys)
c.4339C>A (p.Gln1447Lys)
n.2551C>A
n.601C>A
c.10948C>A (p.Gln3650Lys)
c.10972C>A (p.Gln3658Lys)
c.10912C>A (p.Gln3638Lys)
c.10909C>A (p.Gln3637Lys)
c.10894C>A (p.Gln3632Lys)
c.10933C>A (p.Gln3645Lys)
c.10852C>A (p.Gln3618Lys)
c.10807C>A (p.Gln3603Lys)
c.10837C>A (p.Gln3613Lys)
c.10813C>A (p.Gln3605Lys)
c.5461C>A (p.Gln1821Lys)
c.5422C>A (p.Gln1808Lys)
c.10936C>A (p.Gln3646Lys)
c.10897C>A (p.Gln3633Lys)
c.10882C>A (p.Gln3628Lys)
c.10843C>A (p.Gln3615Lys)
c.10795C>A (p.Gln3599Lys)
c.10564C>A (p.Gln3522Lys)
c.6601C>A (p.Gln2201Lys)
c.5485C>A (p.Gln1829Lys)
c.10699C>A (p.Gln3567Lys)
 gnomAD v4
7g.92099774C>GCA368158698AKAP9,CYP51A1c.1352-14172G>C (n.1352-14172G>C)
c.10801C>G (p.Gln3601Glu)
c.10873C>G (p.Gln3625Glu)
c.3793C>G (p.Gln1265Glu)
n.149C>G
c.289C>G (p.Gln97Glu)
n.2879C>G
c.5446C>G (p.Gln1816Glu)
c.*1681C>G (n.*1681C>G)
c.10777C>G (p.Gln3593Glu)
n.10999C>G
c.10747C>G (p.Gln3583Glu)
c.10543C>G (p.Gln3515Glu)
n.12471C>G
c.10624C>G (p.Gln3542Glu)
c.10708C>G (p.Gln3570Glu)
c.4440C>G (n.4440C>G)
c.10660C>G (p.Gln3554Glu)
c.10840C>G (p.Gln3614Glu)
c.4561C>G (n.4561C>G)
c.10810C>G (p.Gln3604Glu)
c.4339C>G (p.Gln1447Glu)
n.2551C>G
n.601C>G
c.10948C>G (p.Gln3650Glu)
c.10972C>G (p.Gln3658Glu)
c.10912C>G (p.Gln3638Glu)
c.10909C>G (p.Gln3637Glu)
c.10894C>G (p.Gln3632Glu)
c.10933C>G (p.Gln3645Glu)
c.10852C>G (p.Gln3618Glu)
c.10807C>G (p.Gln3603Glu)
c.10837C>G (p.Gln3613Glu)
c.10813C>G (p.Gln3605Glu)
c.5461C>G (p.Gln1821Glu)
c.5422C>G (p.Gln1808Glu)
c.10936C>G (p.Gln3646Glu)
c.10897C>G (p.Gln3633Glu)
c.10882C>G (p.Gln3628Glu)
c.10843C>G (p.Gln3615Glu)
c.10795C>G (p.Gln3599Glu)
c.10564C>G (p.Gln3522Glu)
c.6601C>G (p.Gln2201Glu)
c.5485C>G (p.Gln1829Glu)
c.10699C>G (p.Gln3567Glu)
7g.92099774C>TCA368158699AKAP9,CYP51A1c.1352-14172G>A (n.1352-14172G>A)
c.10801C>T (p.Gln3601Ter)
c.10873C>T (p.Gln3625Ter)
c.3793C>T (p.Gln1265Ter)
n.149C>T
c.289C>T (p.Gln97Ter)
n.2879C>T
c.5446C>T (p.Gln1816Ter)
c.*1681C>T (n.*1681C>T)
c.10777C>T (p.Gln3593Ter)
n.10999C>T
c.10747C>T (p.Gln3583Ter)
c.10543C>T (p.Gln3515Ter)
n.12471C>T
c.10624C>T (p.Gln3542Ter)
c.10708C>T (p.Gln3570Ter)
c.4440C>T (n.4440C>T)
c.10660C>T (p.Gln3554Ter)
c.10840C>T (p.Gln3614Ter)
c.4561C>T (n.4561C>T)
c.10810C>T (p.Gln3604Ter)
c.4339C>T (p.Gln1447Ter)
n.2551C>T
n.601C>T
c.10948C>T (p.Gln3650Ter)
c.10972C>T (p.Gln3658Ter)
c.10912C>T (p.Gln3638Ter)
c.10909C>T (p.Gln3637Ter)
c.10894C>T (p.Gln3632Ter)
c.10933C>T (p.Gln3645Ter)
c.10852C>T (p.Gln3618Ter)
c.10807C>T (p.Gln3603Ter)
c.10837C>T (p.Gln3613Ter)
c.10813C>T (p.Gln3605Ter)
c.5461C>T (p.Gln1821Ter)
c.5422C>T (p.Gln1808Ter)
c.10936C>T (p.Gln3646Ter)
c.10897C>T (p.Gln3633Ter)
c.10882C>T (p.Gln3628Ter)
c.10843C>T (p.Gln3615Ter)
c.10795C>T (p.Gln3599Ter)
c.10564C>T (p.Gln3522Ter)
c.6601C>T (p.Gln2201Ter)
c.5485C>T (p.Gln1829Ter)
c.10699C>T (p.Gln3567Ter)
 ClinVar dbSNP
7g.92099775A>CCA368158712AKAP9,CYP51A1c.1352-14173T>G (n.1352-14173T>G)
c.10802A>C (p.Gln3601Pro)
c.10874A>C (p.Gln3625Pro)
c.3794A>C (p.Gln1265Pro)
n.150A>C
c.290A>C (p.Gln97Pro)
n.2880A>C
c.5447A>C (p.Gln1816Pro)
c.*1682A>C (n.*1682A>C)
c.10778A>C (p.Gln3593Pro)
n.11000A>C
c.10748A>C (p.Gln3583Pro)
c.10544A>C (p.Gln3515Pro)
n.12472A>C
c.10625A>C (p.Gln3542Pro)
c.10709A>C (p.Gln3570Pro)
c.4441A>C (n.4441A>C)
c.10661A>C (p.Gln3554Pro)
c.10841A>C (p.Gln3614Pro)
c.4562A>C (n.4562A>C)
c.10811A>C (p.Gln3604Pro)
c.4340A>C (p.Gln1447Pro)
n.2552A>C
n.602A>C
c.10949A>C (p.Gln3650Pro)
c.10973A>C (p.Gln3658Pro)
c.10913A>C (p.Gln3638Pro)
c.10910A>C (p.Gln3637Pro)
c.10895A>C (p.Gln3632Pro)
c.10934A>C (p.Gln3645Pro)
c.10853A>C (p.Gln3618Pro)
c.10808A>C (p.Gln3603Pro)
c.10838A>C (p.Gln3613Pro)
c.10814A>C (p.Gln3605Pro)
c.5462A>C (p.Gln1821Pro)
c.5423A>C (p.Gln1808Pro)
c.10937A>C (p.Gln3646Pro)
c.10898A>C (p.Gln3633Pro)
c.10883A>C (p.Gln3628Pro)
c.10844A>C (p.Gln3615Pro)
c.10796A>C (p.Gln3599Pro)
c.10565A>C (p.Gln3522Pro)
c.6602A>C (p.Gln2201Pro)
c.5486A>C (p.Gln1829Pro)
c.10700A>C (p.Gln3567Pro)
7g.92099775A>GCA368158705AKAP9,CYP51A1c.1352-14173T>C (n.1352-14173T>C)
c.10802A>G (p.Gln3601Arg)
c.10874A>G (p.Gln3625Arg)
c.3794A>G (p.Gln1265Arg)
n.150A>G
c.290A>G (p.Gln97Arg)
n.2880A>G
c.5447A>G (p.Gln1816Arg)
c.*1682A>G (n.*1682A>G)
c.10778A>G (p.Gln3593Arg)
n.11000A>G
c.10748A>G (p.Gln3583Arg)
c.10544A>G (p.Gln3515Arg)
n.12472A>G
c.10625A>G (p.Gln3542Arg)
c.10709A>G (p.Gln3570Arg)
c.4441A>G (n.4441A>G)
c.10661A>G (p.Gln3554Arg)
c.10841A>G (p.Gln3614Arg)
c.4562A>G (n.4562A>G)
c.10811A>G (p.Gln3604Arg)
c.4340A>G (p.Gln1447Arg)
n.2552A>G
n.602A>G
c.10949A>G (p.Gln3650Arg)
c.10973A>G (p.Gln3658Arg)
c.10913A>G (p.Gln3638Arg)
c.10910A>G (p.Gln3637Arg)
c.10895A>G (p.Gln3632Arg)
c.10934A>G (p.Gln3645Arg)
c.10853A>G (p.Gln3618Arg)
c.10808A>G (p.Gln3603Arg)
c.10838A>G (p.Gln3613Arg)
c.10814A>G (p.Gln3605Arg)
c.5462A>G (p.Gln1821Arg)
c.5423A>G (p.Gln1808Arg)
c.10937A>G (p.Gln3646Arg)
c.10898A>G (p.Gln3633Arg)
c.10883A>G (p.Gln3628Arg)
c.10844A>G (p.Gln3615Arg)
c.10796A>G (p.Gln3599Arg)
c.10565A>G (p.Gln3522Arg)
c.6602A>G (p.Gln2201Arg)
c.5486A>G (p.Gln1829Arg)
c.10700A>G (p.Gln3567Arg)
7g.92099775A>TCA368158703AKAP9,CYP51A1c.1352-14173T>A (n.1352-14173T>A)
c.10802A>T (p.Gln3601Leu)
c.10874A>T (p.Gln3625Leu)
c.3794A>T (p.Gln1265Leu)
n.150A>T
c.290A>T (p.Gln97Leu)
n.2880A>T
c.5447A>T (p.Gln1816Leu)
c.*1682A>T (n.*1682A>T)
c.10778A>T (p.Gln3593Leu)
n.11000A>T
c.10748A>T (p.Gln3583Leu)
c.10544A>T (p.Gln3515Leu)
n.12472A>T
c.10625A>T (p.Gln3542Leu)
c.10709A>T (p.Gln3570Leu)
c.4441A>T (n.4441A>T)
c.10661A>T (p.Gln3554Leu)
c.10841A>T (p.Gln3614Leu)
c.4562A>T (n.4562A>T)
c.10811A>T (p.Gln3604Leu)
c.4340A>T (p.Gln1447Leu)
n.2552A>T
n.602A>T
c.10949A>T (p.Gln3650Leu)
c.10973A>T (p.Gln3658Leu)
c.10913A>T (p.Gln3638Leu)
c.10910A>T (p.Gln3637Leu)
c.10895A>T (p.Gln3632Leu)
c.10934A>T (p.Gln3645Leu)
c.10853A>T (p.Gln3618Leu)
c.10808A>T (p.Gln3603Leu)
c.10838A>T (p.Gln3613Leu)
c.10814A>T (p.Gln3605Leu)
c.5462A>T (p.Gln1821Leu)
c.5423A>T (p.Gln1808Leu)
c.10937A>T (p.Gln3646Leu)
c.10898A>T (p.Gln3633Leu)
c.10883A>T (p.Gln3628Leu)
c.10844A>T (p.Gln3615Leu)
c.10796A>T (p.Gln3599Leu)
c.10565A>T (p.Gln3522Leu)
c.6602A>T (p.Gln2201Leu)
c.5486A>T (p.Gln1829Leu)
c.10700A>T (p.Gln3567Leu)
7g.92099776A=CA1725766391AKAP9,CYP51A1c.1352-14174T= (n.1352-14174T=)
c.10803A= (p.Gln3601=)
c.10875A= (p.Gln3625=)
c.3795A= (p.Gln1265=)
n.151A=
c.291A= (p.Gln97=)
n.2881A=
c.5448A= (p.Gln1816=)
c.*1683A= (n.*1683A=)
c.10779A= (p.Gln3593=)
n.11001A=
c.10749A= (p.Gln3583=)
c.10545A= (p.Gln3515=)
n.12473A=
c.10626A= (p.Gln3542=)
c.10710A= (p.Gln3570=)
c.4442A= (n.4442A=)
c.10662A= (p.Gln3554=)
c.10842A= (p.Gln3614=)
c.4563A= (n.4563A=)
c.10812A= (p.Gln3604=)
c.4341A= (p.Gln1447=)
n.2553A=
n.603A=
c.10950A= (p.Gln3650=)
c.10974A= (p.Gln3658=)
c.10914A= (p.Gln3638=)
c.10911A= (p.Gln3637=)
c.10896A= (p.Gln3632=)
c.10935A= (p.Gln3645=)
c.10854A= (p.Gln3618=)
c.10809A= (p.Gln3603=)
c.10839A= (p.Gln3613=)
c.10815A= (p.Gln3605=)
c.5463A= (p.Gln1821=)
c.5424A= (p.Gln1808=)
c.10938A= (p.Gln3646=)
c.10899A= (p.Gln3633=)
c.10884A= (p.Gln3628=)
c.10845A= (p.Gln3615=)
c.10797A= (p.Gln3599=)
c.10566A= (p.Gln3522=)
c.6603A= (p.Gln2201=)
c.5487A= (p.Gln1829=)
c.10701A= (p.Gln3567=)
7g.92099776A>CCA368158713AKAP9,CYP51A1c.1352-14174T>G (n.1352-14174T>G)
c.10803A>C (p.Gln3601His)
c.10875A>C (p.Gln3625His)
c.3795A>C (p.Gln1265His)
n.151A>C
c.291A>C (p.Gln97His)
n.2881A>C
c.5448A>C (p.Gln1816His)
c.*1683A>C (n.*1683A>C)
c.10779A>C (p.Gln3593His)
n.11001A>C
c.10749A>C (p.Gln3583His)
c.10545A>C (p.Gln3515His)
n.12473A>C
c.10626A>C (p.Gln3542His)
c.10710A>C (p.Gln3570His)
c.4442A>C (n.4442A>C)
c.10662A>C (p.Gln3554His)
c.10842A>C (p.Gln3614His)
c.4563A>C (n.4563A>C)
c.10812A>C (p.Gln3604His)
c.4341A>C (p.Gln1447His)
n.2553A>C
n.603A>C
c.10950A>C (p.Gln3650His)
c.10974A>C (p.Gln3658His)
c.10914A>C (p.Gln3638His)
c.10911A>C (p.Gln3637His)
c.10896A>C (p.Gln3632His)
c.10935A>C (p.Gln3645His)
c.10854A>C (p.Gln3618His)
c.10809A>C (p.Gln3603His)
c.10839A>C (p.Gln3613His)
c.10815A>C (p.Gln3605His)
c.5463A>C (p.Gln1821His)
c.5424A>C (p.Gln1808His)
c.10938A>C (p.Gln3646His)
c.10899A>C (p.Gln3633His)
c.10884A>C (p.Gln3628His)
c.10845A>C (p.Gln3615His)
c.10797A>C (p.Gln3599His)
c.10566A>C (p.Gln3522His)
c.6603A>C (p.Gln2201His)
c.5487A>C (p.Gln1829His)
c.10701A>C (p.Gln3567His)
7g.92099776A>GCA161898768AKAP9,CYP51A1c.1352-14174T>C (n.1352-14174T>C)
c.10803A>G (p.Gln3601=)
c.10875A>G (p.Gln3625=)
c.3795A>G (p.Gln1265=)
n.151A>G
c.291A>G (p.Gln97=)
n.2881A>G
c.5448A>G (p.Gln1816=)
c.*1683A>G (n.*1683A>G)
c.10779A>G (p.Gln3593=)
n.11001A>G
c.10749A>G (p.Gln3583=)
c.10545A>G (p.Gln3515=)
n.12473A>G
c.10626A>G (p.Gln3542=)
c.10710A>G (p.Gln3570=)
c.4442A>G (n.4442A>G)
c.10662A>G (p.Gln3554=)
c.10842A>G (p.Gln3614=)
c.4563A>G (n.4563A>G)
c.10812A>G (p.Gln3604=)
c.4341A>G (p.Gln1447=)
n.2553A>G
n.603A>G
c.10950A>G (p.Gln3650=)
c.10974A>G (p.Gln3658=)
c.10914A>G (p.Gln3638=)
c.10911A>G (p.Gln3637=)
c.10896A>G (p.Gln3632=)
c.10935A>G (p.Gln3645=)
c.10854A>G (p.Gln3618=)
c.10809A>G (p.Gln3603=)
c.10839A>G (p.Gln3613=)
c.10815A>G (p.Gln3605=)
c.5463A>G (p.Gln1821=)
c.5424A>G (p.Gln1808=)
c.10938A>G (p.Gln3646=)
c.10899A>G (p.Gln3633=)
c.10884A>G (p.Gln3628=)
c.10845A>G (p.Gln3615=)
c.10797A>G (p.Gln3599=)
c.10566A>G (p.Gln3522=)
c.6603A>G (p.Gln2201=)
c.5487A>G (p.Gln1829=)
c.10701A>G (p.Gln3567=)
 dbSNP
7g.92099776A>TCA368158715AKAP9,CYP51A1c.1352-14174T>A (n.1352-14174T>A)
c.10803A>T (p.Gln3601His)
c.10875A>T (p.Gln3625His)
c.3795A>T (p.Gln1265His)
n.151A>T
c.291A>T (p.Gln97His)
n.2881A>T
c.5448A>T (p.Gln1816His)
c.*1683A>T (n.*1683A>T)
c.10779A>T (p.Gln3593His)
n.11001A>T
c.10749A>T (p.Gln3583His)
c.10545A>T (p.Gln3515His)
n.12473A>T
c.10626A>T (p.Gln3542His)
c.10710A>T (p.Gln3570His)
c.4442A>T (n.4442A>T)
c.10662A>T (p.Gln3554His)
c.10842A>T (p.Gln3614His)
c.4563A>T (n.4563A>T)
c.10812A>T (p.Gln3604His)
c.4341A>T (p.Gln1447His)
n.2553A>T
n.603A>T
c.10950A>T (p.Gln3650His)
c.10974A>T (p.Gln3658His)
c.10914A>T (p.Gln3638His)
c.10911A>T (p.Gln3637His)
c.10896A>T (p.Gln3632His)
c.10935A>T (p.Gln3645His)
c.10854A>T (p.Gln3618His)
c.10809A>T (p.Gln3603His)
c.10839A>T (p.Gln3613His)
c.10815A>T (p.Gln3605His)
c.5463A>T (p.Gln1821His)
c.5424A>T (p.Gln1808His)
c.10938A>T (p.Gln3646His)
c.10899A>T (p.Gln3633His)
c.10884A>T (p.Gln3628His)
c.10845A>T (p.Gln3615His)
c.10797A>T (p.Gln3599His)
c.10566A>T (p.Gln3522His)
c.6603A>T (p.Gln2201His)
c.5487A>T (p.Gln1829His)
c.10701A>T (p.Gln3567His)
7g.92099777C>ACA368158717AKAP9,CYP51A1c.1352-14175G>T (n.1352-14175G>T)
c.10804C>A (p.Leu3602Met)
c.10876C>A (p.Leu3626Met)
c.3796C>A (p.Leu1266Met)
n.152C>A
c.292C>A (p.Leu98Met)
n.2882C>A
c.5449C>A (p.Leu1817Met)
c.*1684C>A (n.*1684C>A)
c.10780C>A (p.Leu3594Met)
n.11002C>A
c.10750C>A (p.Leu3584Met)
c.10546C>A (p.Leu3516Met)
n.12474C>A
c.10627C>A (p.Leu3543Met)
c.10711C>A (p.Leu3571Met)
c.4443C>A (n.4443C>A)
c.10663C>A (p.Leu3555Met)
c.10843C>A (p.Leu3615Met)
c.4564C>A (n.4564C>A)
c.10813C>A (p.Leu3605Met)
c.4342C>A (p.Leu1448Met)
n.2554C>A
n.604C>A
c.10951C>A (p.Leu3651Met)
c.10975C>A (p.Leu3659Met)
c.10915C>A (p.Leu3639Met)
c.10912C>A (p.Leu3638Met)
c.10897C>A (p.Leu3633Met)
c.10936C>A (p.Leu3646Met)
c.10855C>A (p.Leu3619Met)
c.10810C>A (p.Leu3604Met)
c.10840C>A (p.Leu3614Met)
c.10816C>A (p.Leu3606Met)
c.5464C>A (p.Leu1822Met)
c.5425C>A (p.Leu1809Met)
c.10939C>A (p.Leu3647Met)
c.10900C>A (p.Leu3634Met)
c.10885C>A (p.Leu3629Met)
c.10846C>A (p.Leu3616Met)
c.10798C>A (p.Leu3600Met)
c.10567C>A (p.Leu3523Met)
c.6604C>A (p.Leu2202Met)
c.5488C>A (p.Leu1830Met)
c.10702C>A (p.Leu3568Met)
7g.92099777C>GCA368158718AKAP9,CYP51A1c.1352-14175G>C (n.1352-14175G>C)
c.10804C>G (p.Leu3602Val)
c.10876C>G (p.Leu3626Val)
c.3796C>G (p.Leu1266Val)
n.152C>G
c.292C>G (p.Leu98Val)
n.2882C>G
c.5449C>G (p.Leu1817Val)
c.*1684C>G (n.*1684C>G)
c.10780C>G (p.Leu3594Val)
n.11002C>G
c.10750C>G (p.Leu3584Val)
c.10546C>G (p.Leu3516Val)
n.12474C>G
c.10627C>G (p.Leu3543Val)
c.10711C>G (p.Leu3571Val)
c.4443C>G (n.4443C>G)
c.10663C>G (p.Leu3555Val)
c.10843C>G (p.Leu3615Val)
c.4564C>G (n.4564C>G)
c.10813C>G (p.Leu3605Val)
c.4342C>G (p.Leu1448Val)
n.2554C>G
n.604C>G
c.10951C>G (p.Leu3651Val)
c.10975C>G (p.Leu3659Val)
c.10915C>G (p.Leu3639Val)
c.10912C>G (p.Leu3638Val)
c.10897C>G (p.Leu3633Val)
c.10936C>G (p.Leu3646Val)
c.10855C>G (p.Leu3619Val)
c.10810C>G (p.Leu3604Val)
c.10840C>G (p.Leu3614Val)
c.10816C>G (p.Leu3606Val)
c.5464C>G (p.Leu1822Val)
c.5425C>G (p.Leu1809Val)
c.10939C>G (p.Leu3647Val)
c.10900C>G (p.Leu3634Val)
c.10885C>G (p.Leu3629Val)
c.10846C>G (p.Leu3616Val)
c.10798C>G (p.Leu3600Val)
c.10567C>G (p.Leu3523Val)
c.6604C>G (p.Leu2202Val)
c.5488C>G (p.Leu1830Val)
c.10702C>G (p.Leu3568Val)
7g.92099777C>TCA456454175AKAP9,CYP51A1c.1352-14175G>A (n.1352-14175G>A)
c.10804C>T (p.Leu3602=)
c.10876C>T (p.Leu3626=)
c.3796C>T (p.Leu1266=)
n.152C>T
c.292C>T (p.Leu98=)
n.2882C>T
c.5449C>T (p.Leu1817=)
c.*1684C>T (n.*1684C>T)
c.10780C>T (p.Leu3594=)
n.11002C>T
c.10750C>T (p.Leu3584=)
c.10546C>T (p.Leu3516=)
n.12474C>T
c.10627C>T (p.Leu3543=)
c.10711C>T (p.Leu3571=)
c.4443C>T (n.4443C>T)
c.10663C>T (p.Leu3555=)
c.10843C>T (p.Leu3615=)
c.4564C>T (n.4564C>T)
c.10813C>T (p.Leu3605=)
c.4342C>T (p.Leu1448=)
n.2554C>T
n.604C>T
c.10951C>T (p.Leu3651=)
c.10975C>T (p.Leu3659=)
c.10915C>T (p.Leu3639=)
c.10912C>T (p.Leu3638=)
c.10897C>T (p.Leu3633=)
c.10936C>T (p.Leu3646=)
c.10855C>T (p.Leu3619=)
c.10810C>T (p.Leu3604=)
c.10840C>T (p.Leu3614=)
c.10816C>T (p.Leu3606=)
c.5464C>T (p.Leu1822=)
c.5425C>T (p.Leu1809=)
c.10939C>T (p.Leu3647=)
c.10900C>T (p.Leu3634=)
c.10885C>T (p.Leu3629=)
c.10846C>T (p.Leu3616=)
c.10798C>T (p.Leu3600=)
c.10567C>T (p.Leu3523=)
c.6604C>T (p.Leu2202=)
c.5488C>T (p.Leu1830=)
c.10702C>T (p.Leu3568=)
7g.92099778T>ACA368158719AKAP9,CYP51A1c.1352-14176A>T (n.1352-14176A>T)
c.10805T>A (p.Leu3602Gln)
c.10877T>A (p.Leu3626Gln)
c.3797T>A (p.Leu1266Gln)
n.153T>A
c.293T>A (p.Leu98Gln)
n.2883T>A
c.5450T>A (p.Leu1817Gln)
c.*1685T>A (n.*1685T>A)
c.10781T>A (p.Leu3594Gln)
n.11003T>A
c.10751T>A (p.Leu3584Gln)
c.10547T>A (p.Leu3516Gln)
n.12475T>A
c.10628T>A (p.Leu3543Gln)
c.10712T>A (p.Leu3571Gln)
c.4444T>A (n.4444T>A)
c.10664T>A (p.Leu3555Gln)
c.10844T>A (p.Leu3615Gln)
c.4565T>A (n.4565T>A)
c.10814T>A (p.Leu3605Gln)
c.4343T>A (p.Leu1448Gln)
n.2555T>A
n.605T>A
c.10952T>A (p.Leu3651Gln)
c.10976T>A (p.Leu3659Gln)
c.10916T>A (p.Leu3639Gln)
c.10913T>A (p.Leu3638Gln)
c.10898T>A (p.Leu3633Gln)
c.10937T>A (p.Leu3646Gln)
c.10856T>A (p.Leu3619Gln)
c.10811T>A (p.Leu3604Gln)
c.10841T>A (p.Leu3614Gln)
c.10817T>A (p.Leu3606Gln)
c.5465T>A (p.Leu1822Gln)
c.5426T>A (p.Leu1809Gln)
c.10940T>A (p.Leu3647Gln)
c.10901T>A (p.Leu3634Gln)
c.10886T>A (p.Leu3629Gln)
c.10847T>A (p.Leu3616Gln)
c.10799T>A (p.Leu3600Gln)
c.10568T>A (p.Leu3523Gln)
c.6605T>A (p.Leu2202Gln)
c.5489T>A (p.Leu1830Gln)
c.10703T>A (p.Leu3568Gln)
7g.92099778T>CCA368158721AKAP9,CYP51A1c.1352-14176A>G (n.1352-14176A>G)
c.10805T>C (p.Leu3602Pro)
c.10877T>C (p.Leu3626Pro)
c.3797T>C (p.Leu1266Pro)
n.153T>C
c.293T>C (p.Leu98Pro)
n.2883T>C
c.5450T>C (p.Leu1817Pro)
c.*1685T>C (n.*1685T>C)
c.10781T>C (p.Leu3594Pro)
n.11003T>C
c.10751T>C (p.Leu3584Pro)
c.10547T>C (p.Leu3516Pro)
n.12475T>C
c.10628T>C (p.Leu3543Pro)
c.10712T>C (p.Leu3571Pro)
c.4444T>C (n.4444T>C)
c.10664T>C (p.Leu3555Pro)
c.10844T>C (p.Leu3615Pro)
c.4565T>C (n.4565T>C)
c.10814T>C (p.Leu3605Pro)
c.4343T>C (p.Leu1448Pro)
n.2555T>C
n.605T>C
c.10952T>C (p.Leu3651Pro)
c.10976T>C (p.Leu3659Pro)
c.10916T>C (p.Leu3639Pro)
c.10913T>C (p.Leu3638Pro)
c.10898T>C (p.Leu3633Pro)
c.10937T>C (p.Leu3646Pro)
c.10856T>C (p.Leu3619Pro)
c.10811T>C (p.Leu3604Pro)
c.10841T>C (p.Leu3614Pro)
c.10817T>C (p.Leu3606Pro)
c.5465T>C (p.Leu1822Pro)
c.5426T>C (p.Leu1809Pro)
c.10940T>C (p.Leu3647Pro)
c.10901T>C (p.Leu3634Pro)
c.10886T>C (p.Leu3629Pro)
c.10847T>C (p.Leu3616Pro)
c.10799T>C (p.Leu3600Pro)
c.10568T>C (p.Leu3523Pro)
c.6605T>C (p.Leu2202Pro)
c.5489T>C (p.Leu1830Pro)
c.10703T>C (p.Leu3568Pro)
7g.92099778T>GCA368158722AKAP9,CYP51A1c.1352-14176A>C (n.1352-14176A>C)
c.10805T>G (p.Leu3602Arg)
c.10877T>G (p.Leu3626Arg)
c.3797T>G (p.Leu1266Arg)
n.153T>G
c.293T>G (p.Leu98Arg)
n.2883T>G
c.5450T>G (p.Leu1817Arg)
c.*1685T>G (n.*1685T>G)
c.10781T>G (p.Leu3594Arg)
n.11003T>G
c.10751T>G (p.Leu3584Arg)
c.10547T>G (p.Leu3516Arg)
n.12475T>G
c.10628T>G (p.Leu3543Arg)
c.10712T>G (p.Leu3571Arg)
c.4444T>G (n.4444T>G)
c.10664T>G (p.Leu3555Arg)
c.10844T>G (p.Leu3615Arg)
c.4565T>G (n.4565T>G)
c.10814T>G (p.Leu3605Arg)
c.4343T>G (p.Leu1448Arg)
n.2555T>G
n.605T>G
c.10952T>G (p.Leu3651Arg)
c.10976T>G (p.Leu3659Arg)
c.10916T>G (p.Leu3639Arg)
c.10913T>G (p.Leu3638Arg)
c.10898T>G (p.Leu3633Arg)
c.10937T>G (p.Leu3646Arg)
c.10856T>G (p.Leu3619Arg)
c.10811T>G (p.Leu3604Arg)
c.10841T>G (p.Leu3614Arg)
c.10817T>G (p.Leu3606Arg)
c.5465T>G (p.Leu1822Arg)
c.5426T>G (p.Leu1809Arg)
c.10940T>G (p.Leu3647Arg)
c.10901T>G (p.Leu3634Arg)
c.10886T>G (p.Leu3629Arg)
c.10847T>G (p.Leu3616Arg)
c.10799T>G (p.Leu3600Arg)
c.10568T>G (p.Leu3523Arg)
c.6605T>G (p.Leu2202Arg)
c.5489T>G (p.Leu1830Arg)
c.10703T>G (p.Leu3568Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.92099778T=CA1725766395AKAP9,CYP51A1c.1352-14176A= (n.1352-14176A=)
c.10805T= (p.Leu3602=)
c.10877T= (p.Leu3626=)
c.3797T= (p.Leu1266=)
n.153T=
c.293T= (p.Leu98=)
n.2883T=
c.5450T= (p.Leu1817=)
c.*1685T= (n.*1685T=)
c.10781T= (p.Leu3594=)
n.11003T=
c.10751T= (p.Leu3584=)
c.10547T= (p.Leu3516=)
n.12475T=
c.10628T= (p.Leu3543=)
c.10712T= (p.Leu3571=)
c.4444T= (n.4444T=)
c.10664T= (p.Leu3555=)
c.10844T= (p.Leu3615=)
c.4565T= (n.4565T=)
c.10814T= (p.Leu3605=)
c.4343T= (p.Leu1448=)
n.2555T=
n.605T=
c.10952T= (p.Leu3651=)
c.10976T= (p.Leu3659=)
c.10916T= (p.Leu3639=)
c.10913T= (p.Leu3638=)
c.10898T= (p.Leu3633=)
c.10937T= (p.Leu3646=)
c.10856T= (p.Leu3619=)
c.10811T= (p.Leu3604=)
c.10841T= (p.Leu3614=)
c.10817T= (p.Leu3606=)
c.5465T= (p.Leu1822=)
c.5426T= (p.Leu1809=)
c.10940T= (p.Leu3647=)
c.10901T= (p.Leu3634=)
c.10886T= (p.Leu3629=)
c.10847T= (p.Leu3616=)
c.10799T= (p.Leu3600=)
c.10568T= (p.Leu3523=)
c.6605T= (p.Leu2202=)
c.5489T= (p.Leu1830=)
c.10703T= (p.Leu3568=)
7g.92099779G>ACA456454177AKAP9,CYP51A1c.1352-14177C>T (n.1352-14177C>T)
c.10806G>A (p.Leu3602=)
c.10878G>A (p.Leu3626=)
c.3798G>A (p.Leu1266=)
n.154G>A
c.294G>A (p.Leu98=)
n.2884G>A
c.5451G>A (p.Leu1817=)
c.*1686G>A (n.*1686G>A)
c.10782G>A (p.Leu3594=)
n.11004G>A
c.10752G>A (p.Leu3584=)
c.10548G>A (p.Leu3516=)
n.12476G>A
c.10629G>A (p.Leu3543=)
c.10713G>A (p.Leu3571=)
c.4445G>A (n.4445G>A)
c.10665G>A (p.Leu3555=)
c.10845G>A (p.Leu3615=)
c.4566G>A (n.4566G>A)
c.10815G>A (p.Leu3605=)
c.4344G>A (p.Leu1448=)
n.2556G>A
n.606G>A
c.10953G>A (p.Leu3651=)
c.10977G>A (p.Leu3659=)
c.10917G>A (p.Leu3639=)
c.10914G>A (p.Leu3638=)
c.10899G>A (p.Leu3633=)
c.10938G>A (p.Leu3646=)
c.10857G>A (p.Leu3619=)
c.10812G>A (p.Leu3604=)
c.10842G>A (p.Leu3614=)
c.10818G>A (p.Leu3606=)
c.5466G>A (p.Leu1822=)
c.5427G>A (p.Leu1809=)
c.10941G>A (p.Leu3647=)
c.10902G>A (p.Leu3634=)
c.10887G>A (p.Leu3629=)
c.10848G>A (p.Leu3616=)
c.10800G>A (p.Leu3600=)
c.10569G>A (p.Leu3523=)
c.6606G>A (p.Leu2202=)
c.5490G>A (p.Leu1830=)
c.10704G>A (p.Leu3568=)
7g.92099779G>CCA456454179AKAP9,CYP51A1c.1352-14177C>G (n.1352-14177C>G)
c.10806G>C (p.Leu3602=)
c.10878G>C (p.Leu3626=)
c.3798G>C (p.Leu1266=)
n.154G>C
c.294G>C (p.Leu98=)
n.2884G>C
c.5451G>C (p.Leu1817=)
c.*1686G>C (n.*1686G>C)
c.10782G>C (p.Leu3594=)
n.11004G>C
c.10752G>C (p.Leu3584=)
c.10548G>C (p.Leu3516=)
n.12476G>C
c.10629G>C (p.Leu3543=)
c.10713G>C (p.Leu3571=)
c.4445G>C (n.4445G>C)
c.10665G>C (p.Leu3555=)
c.10845G>C (p.Leu3615=)
c.4566G>C (n.4566G>C)
c.10815G>C (p.Leu3605=)
c.4344G>C (p.Leu1448=)
n.2556G>C
n.606G>C
c.10953G>C (p.Leu3651=)
c.10977G>C (p.Leu3659=)
c.10917G>C (p.Leu3639=)
c.10914G>C (p.Leu3638=)
c.10899G>C (p.Leu3633=)
c.10938G>C (p.Leu3646=)
c.10857G>C (p.Leu3619=)
c.10812G>C (p.Leu3604=)
c.10842G>C (p.Leu3614=)
c.10818G>C (p.Leu3606=)
c.5466G>C (p.Leu1822=)
c.5427G>C (p.Leu1809=)
c.10941G>C (p.Leu3647=)
c.10902G>C (p.Leu3634=)
c.10887G>C (p.Leu3629=)
c.10848G>C (p.Leu3616=)
c.10800G>C (p.Leu3600=)
c.10569G>C (p.Leu3523=)
c.6606G>C (p.Leu2202=)
c.5490G>C (p.Leu1830=)
c.10704G>C (p.Leu3568=)
7g.92099779G=CA1725766401AKAP9,CYP51A1c.1352-14177C= (n.1352-14177C=)
c.10806G= (p.Leu3602=)
c.10878G= (p.Leu3626=)
c.3798G= (p.Leu1266=)
n.154G=
c.294G= (p.Leu98=)
n.2884G=
c.5451G= (p.Leu1817=)
c.*1686G= (n.*1686G=)
c.10782G= (p.Leu3594=)
n.11004G=
c.10752G= (p.Leu3584=)
c.10548G= (p.Leu3516=)
n.12476G=
c.10629G= (p.Leu3543=)
c.10713G= (p.Leu3571=)
c.4445G= (n.4445G=)
c.10665G= (p.Leu3555=)
c.10845G= (p.Leu3615=)
c.4566G= (n.4566G=)
c.10815G= (p.Leu3605=)
c.4344G= (p.Leu1448=)
n.2556G=
n.606G=
c.10953G= (p.Leu3651=)
c.10977G= (p.Leu3659=)
c.10917G= (p.Leu3639=)
c.10914G= (p.Leu3638=)
c.10899G= (p.Leu3633=)
c.10938G= (p.Leu3646=)
c.10857G= (p.Leu3619=)
c.10812G= (p.Leu3604=)
c.10842G= (p.Leu3614=)
c.10818G= (p.Leu3606=)
c.5466G= (p.Leu1822=)
c.5427G= (p.Leu1809=)
c.10941G= (p.Leu3647=)
c.10902G= (p.Leu3634=)
c.10887G= (p.Leu3629=)
c.10848G= (p.Leu3616=)
c.10800G= (p.Leu3600=)
c.10569G= (p.Leu3523=)
c.6606G= (p.Leu2202=)
c.5490G= (p.Leu1830=)
c.10704G= (p.Leu3568=)
7g.92099779G>TCA4338028AKAP9,CYP51A1c.1352-14177C>A (n.1352-14177C>A)
c.10806G>T (p.Leu3602=)
c.10878G>T (p.Leu3626=)
c.3798G>T (p.Leu1266=)
n.154G>T
c.294G>T (p.Leu98=)
n.2884G>T
c.5451G>T (p.Leu1817=)
c.*1686G>T (n.*1686G>T)
c.10782G>T (p.Leu3594=)
n.11004G>T
c.10752G>T (p.Leu3584=)
c.10548G>T (p.Leu3516=)
n.12476G>T
c.10629G>T (p.Leu3543=)
c.10713G>T (p.Leu3571=)
c.4445G>T (n.4445G>T)
c.10665G>T (p.Leu3555=)
c.10845G>T (p.Leu3615=)
c.4566G>T (n.4566G>T)
c.10815G>T (p.Leu3605=)
c.4344G>T (p.Leu1448=)
n.2556G>T
n.606G>T
c.10953G>T (p.Leu3651=)
c.10977G>T (p.Leu3659=)
c.10917G>T (p.Leu3639=)
c.10914G>T (p.Leu3638=)
c.10899G>T (p.Leu3633=)
c.10938G>T (p.Leu3646=)
c.10857G>T (p.Leu3619=)
c.10812G>T (p.Leu3604=)
c.10842G>T (p.Leu3614=)
c.10818G>T (p.Leu3606=)
c.5466G>T (p.Leu1822=)
c.5427G>T (p.Leu1809=)
c.10941G>T (p.Leu3647=)
c.10902G>T (p.Leu3634=)
c.10887G>T (p.Leu3629=)
c.10848G>T (p.Leu3616=)
c.10800G>T (p.Leu3600=)
c.10569G>T (p.Leu3523=)
c.6606G>T (p.Leu2202=)
c.5490G>T (p.Leu1830=)
c.10704G>T (p.Leu3568=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.92099780A=CA1725766405AKAP9,CYP51A1c.1352-14178T= (n.1352-14178T=)
c.10807A= (p.Thr3603=)
c.10879A= (p.Thr3627=)
c.3799A= (p.Thr1267=)
n.155A=
c.295A= (p.Thr99=)
n.2885A=
c.5452A= (p.Thr1818=)
c.*1687A= (n.*1687A=)
c.10783A= (p.Thr3595=)
n.11005A=
c.10753A= (p.Thr3585=)
c.10549A= (p.Thr3517=)
n.12477A=
c.10630A= (p.Thr3544=)
c.10714A= (p.Thr3572=)
c.4446A= (n.4446A=)
c.10666A= (p.Thr3556=)
c.10846A= (p.Thr3616=)
c.4567A= (n.4567A=)
c.10816A= (p.Thr3606=)
c.4345A= (p.Thr1449=)
n.2557A=
n.607A=
c.10954A= (p.Thr3652=)
c.10978A= (p.Thr3660=)
c.10918A= (p.Thr3640=)
c.10915A= (p.Thr3639=)
c.10900A= (p.Thr3634=)
c.10939A= (p.Thr3647=)
c.10858A= (p.Thr3620=)
c.10813A= (p.Thr3605=)
c.10843A= (p.Thr3615=)
c.10819A= (p.Thr3607=)
c.5467A= (p.Thr1823=)
c.5428A= (p.Thr1810=)
c.10942A= (p.Thr3648=)
c.10903A= (p.Thr3635=)
c.10888A= (p.Thr3630=)
c.10849A= (p.Thr3617=)
c.10801A= (p.Thr3601=)
c.10570A= (p.Thr3524=)
c.6607A= (p.Thr2203=)
c.5491A= (p.Thr1831=)
c.10705A= (p.Thr3569=)
7g.92099780A>CCA368158728AKAP9,CYP51A1c.1352-14178T>G (n.1352-14178T>G)
c.10807A>C (p.Thr3603Pro)
c.10879A>C (p.Thr3627Pro)
c.3799A>C (p.Thr1267Pro)
n.155A>C
c.295A>C (p.Thr99Pro)
n.2885A>C
c.5452A>C (p.Thr1818Pro)
c.*1687A>C (n.*1687A>C)
c.10783A>C (p.Thr3595Pro)
n.11005A>C
c.10753A>C (p.Thr3585Pro)
c.10549A>C (p.Thr3517Pro)
n.12477A>C
c.10630A>C (p.Thr3544Pro)
c.10714A>C (p.Thr3572Pro)
c.4446A>C (n.4446A>C)
c.10666A>C (p.Thr3556Pro)
c.10846A>C (p.Thr3616Pro)
c.4567A>C (n.4567A>C)
c.10816A>C (p.Thr3606Pro)
c.4345A>C (p.Thr1449Pro)
n.2557A>C
n.607A>C
c.10954A>C (p.Thr3652Pro)
c.10978A>C (p.Thr3660Pro)
c.10918A>C (p.Thr3640Pro)
c.10915A>C (p.Thr3639Pro)
c.10900A>C (p.Thr3634Pro)
c.10939A>C (p.Thr3647Pro)
c.10858A>C (p.Thr3620Pro)
c.10813A>C (p.Thr3605Pro)
c.10843A>C (p.Thr3615Pro)
c.10819A>C (p.Thr3607Pro)
c.5467A>C (p.Thr1823Pro)
c.5428A>C (p.Thr1810Pro)
c.10942A>C (p.Thr3648Pro)
c.10903A>C (p.Thr3635Pro)
c.10888A>C (p.Thr3630Pro)
c.10849A>C (p.Thr3617Pro)
c.10801A>C (p.Thr3601Pro)
c.10570A>C (p.Thr3524Pro)
c.6607A>C (p.Thr2203Pro)
c.5491A>C (p.Thr1831Pro)
c.10705A>C (p.Thr3569Pro)
7g.92099780A>GCA368158733AKAP9,CYP51A1c.1352-14178T>C (n.1352-14178T>C)
c.10807A>G (p.Thr3603Ala)
c.10879A>G (p.Thr3627Ala)
c.3799A>G (p.Thr1267Ala)
n.155A>G
c.295A>G (p.Thr99Ala)
n.2885A>G
c.5452A>G (p.Thr1818Ala)
c.*1687A>G (n.*1687A>G)
c.10783A>G (p.Thr3595Ala)
n.11005A>G
c.10753A>G (p.Thr3585Ala)
c.10549A>G (p.Thr3517Ala)
n.12477A>G
c.10630A>G (p.Thr3544Ala)
c.10714A>G (p.Thr3572Ala)
c.4446A>G (n.4446A>G)
c.10666A>G (p.Thr3556Ala)
c.10846A>G (p.Thr3616Ala)
c.4567A>G (n.4567A>G)
c.10816A>G (p.Thr3606Ala)
c.4345A>G (p.Thr1449Ala)
n.2557A>G
n.607A>G
c.10954A>G (p.Thr3652Ala)
c.10978A>G (p.Thr3660Ala)
c.10918A>G (p.Thr3640Ala)
c.10915A>G (p.Thr3639Ala)
c.10900A>G (p.Thr3634Ala)
c.10939A>G (p.Thr3647Ala)
c.10858A>G (p.Thr3620Ala)
c.10813A>G (p.Thr3605Ala)
c.10843A>G (p.Thr3615Ala)
c.10819A>G (p.Thr3607Ala)
c.5467A>G (p.Thr1823Ala)
c.5428A>G (p.Thr1810Ala)
c.10942A>G (p.Thr3648Ala)
c.10903A>G (p.Thr3635Ala)
c.10888A>G (p.Thr3630Ala)
c.10849A>G (p.Thr3617Ala)
c.10801A>G (p.Thr3601Ala)
c.10570A>G (p.Thr3524Ala)
c.6607A>G (p.Thr2203Ala)
c.5491A>G (p.Thr1831Ala)
c.10705A>G (p.Thr3569Ala)
7g.92099780A>TCA368158735AKAP9,CYP51A1c.1352-14178T>A (n.1352-14178T>A)
c.10807A>T (p.Thr3603Ser)
c.10879A>T (p.Thr3627Ser)
c.3799A>T (p.Thr1267Ser)
n.155A>T
c.295A>T (p.Thr99Ser)
n.2885A>T
c.5452A>T (p.Thr1818Ser)
c.*1687A>T (n.*1687A>T)
c.10783A>T (p.Thr3595Ser)
n.11005A>T
c.10753A>T (p.Thr3585Ser)
c.10549A>T (p.Thr3517Ser)
n.12477A>T
c.10630A>T (p.Thr3544Ser)
c.10714A>T (p.Thr3572Ser)
c.4446A>T (n.4446A>T)
c.10666A>T (p.Thr3556Ser)
c.10846A>T (p.Thr3616Ser)
c.4567A>T (n.4567A>T)
c.10816A>T (p.Thr3606Ser)
c.4345A>T (p.Thr1449Ser)
n.2557A>T
n.607A>T
c.10954A>T (p.Thr3652Ser)
c.10978A>T (p.Thr3660Ser)
c.10918A>T (p.Thr3640Ser)
c.10915A>T (p.Thr3639Ser)
c.10900A>T (p.Thr3634Ser)
c.10939A>T (p.Thr3647Ser)
c.10858A>T (p.Thr3620Ser)
c.10813A>T (p.Thr3605Ser)
c.10843A>T (p.Thr3615Ser)
c.10819A>T (p.Thr3607Ser)
c.5467A>T (p.Thr1823Ser)
c.5428A>T (p.Thr1810Ser)
c.10942A>T (p.Thr3648Ser)
c.10903A>T (p.Thr3635Ser)
c.10888A>T (p.Thr3630Ser)
c.10849A>T (p.Thr3617Ser)
c.10801A>T (p.Thr3601Ser)
c.10570A>T (p.Thr3524Ser)
c.6607A>T (p.Thr2203Ser)
c.5491A>T (p.Thr1831Ser)
c.10705A>T (p.Thr3569Ser)
 dbSNP
7g.92099781C>ACA368158742AKAP9,CYP51A1c.1352-14179G>T (n.1352-14179G>T)
c.10808C>A (p.Thr3603Asn)
c.10880C>A (p.Thr3627Asn)
c.3800C>A (p.Thr1267Asn)
n.156C>A
c.296C>A (p.Thr99Asn)
n.2886C>A
c.5453C>A (p.Thr1818Asn)
c.*1688C>A (n.*1688C>A)
c.10784C>A (p.Thr3595Asn)
n.11006C>A
c.10754C>A (p.Thr3585Asn)
c.10550C>A (p.Thr3517Asn)
n.12478C>A
c.10631C>A (p.Thr3544Asn)
c.10715C>A (p.Thr3572Asn)
c.4447C>A (n.4447C>A)
c.10667C>A (p.Thr3556Asn)
c.10847C>A (p.Thr3616Asn)
c.4568C>A (n.4568C>A)
c.10817C>A (p.Thr3606Asn)
c.4346C>A (p.Thr1449Asn)
n.2558C>A
n.608C>A
c.10955C>A (p.Thr3652Asn)
c.10979C>A (p.Thr3660Asn)
c.10919C>A (p.Thr3640Asn)
c.10916C>A (p.Thr3639Asn)
c.10901C>A (p.Thr3634Asn)
c.10940C>A (p.Thr3647Asn)
c.10859C>A (p.Thr3620Asn)
c.10814C>A (p.Thr3605Asn)
c.10844C>A (p.Thr3615Asn)
c.10820C>A (p.Thr3607Asn)
c.5468C>A (p.Thr1823Asn)
c.5429C>A (p.Thr1810Asn)
c.10943C>A (p.Thr3648Asn)
c.10904C>A (p.Thr3635Asn)
c.10889C>A (p.Thr3630Asn)
c.10850C>A (p.Thr3617Asn)
c.10802C>A (p.Thr3601Asn)
c.10571C>A (p.Thr3524Asn)
c.6608C>A (p.Thr2203Asn)
c.5492C>A (p.Thr1831Asn)
c.10706C>A (p.Thr3569Asn)
7g.92099781C=CA1725766408AKAP9,CYP51A1c.1352-14179G= (n.1352-14179G=)
c.10808C= (p.Thr3603=)
c.10880C= (p.Thr3627=)
c.3800C= (p.Thr1267=)
n.156C=
c.296C= (p.Thr99=)
n.2886C=
c.5453C= (p.Thr1818=)
c.*1688C= (n.*1688C=)
c.10784C= (p.Thr3595=)
n.11006C=
c.10754C= (p.Thr3585=)
c.10550C= (p.Thr3517=)
n.12478C=
c.10631C= (p.Thr3544=)
c.10715C= (p.Thr3572=)
c.4447C= (n.4447C=)
c.10667C= (p.Thr3556=)
c.10847C= (p.Thr3616=)
c.4568C= (n.4568C=)
c.10817C= (p.Thr3606=)
c.4346C= (p.Thr1449=)
n.2558C=
n.608C=
c.10955C= (p.Thr3652=)
c.10979C= (p.Thr3660=)
c.10919C= (p.Thr3640=)
c.10916C= (p.Thr3639=)
c.10901C= (p.Thr3634=)
c.10940C= (p.Thr3647=)
c.10859C= (p.Thr3620=)
c.10814C= (p.Thr3605=)
c.10844C= (p.Thr3615=)
c.10820C= (p.Thr3607=)
c.5468C= (p.Thr1823=)
c.5429C= (p.Thr1810=)
c.10943C= (p.Thr3648=)
c.10904C= (p.Thr3635=)
c.10889C= (p.Thr3630=)
c.10850C= (p.Thr3617=)
c.10802C= (p.Thr3601=)
c.10571C= (p.Thr3524=)
c.6608C= (p.Thr2203=)
c.5492C= (p.Thr1831=)
c.10706C= (p.Thr3569=)
7g.92099781C>GCA368158740AKAP9,CYP51A1c.1352-14179G>C (n.1352-14179G>C)
c.10808C>G (p.Thr3603Ser)
c.10880C>G (p.Thr3627Ser)
c.3800C>G (p.Thr1267Ser)
n.156C>G
c.296C>G (p.Thr99Ser)
n.2886C>G
c.5453C>G (p.Thr1818Ser)
c.*1688C>G (n.*1688C>G)
c.10784C>G (p.Thr3595Ser)
n.11006C>G
c.10754C>G (p.Thr3585Ser)
c.10550C>G (p.Thr3517Ser)
n.12478C>G
c.10631C>G (p.Thr3544Ser)
c.10715C>G (p.Thr3572Ser)
c.4447C>G (n.4447C>G)
c.10667C>G (p.Thr3556Ser)
c.10847C>G (p.Thr3616Ser)
c.4568C>G (n.4568C>G)
c.10817C>G (p.Thr3606Ser)
c.4346C>G (p.Thr1449Ser)
n.2558C>G
n.608C>G
c.10955C>G (p.Thr3652Ser)
c.10979C>G (p.Thr3660Ser)
c.10919C>G (p.Thr3640Ser)
c.10916C>G (p.Thr3639Ser)
c.10901C>G (p.Thr3634Ser)
c.10940C>G (p.Thr3647Ser)
c.10859C>G (p.Thr3620Ser)
c.10814C>G (p.Thr3605Ser)
c.10844C>G (p.Thr3615Ser)
c.10820C>G (p.Thr3607Ser)
c.5468C>G (p.Thr1823Ser)
c.5429C>G (p.Thr1810Ser)
c.10943C>G (p.Thr3648Ser)
c.10904C>G (p.Thr3635Ser)
c.10889C>G (p.Thr3630Ser)
c.10850C>G (p.Thr3617Ser)
c.10802C>G (p.Thr3601Ser)
c.10571C>G (p.Thr3524Ser)
c.6608C>G (p.Thr2203Ser)
c.5492C>G (p.Thr1831Ser)
c.10706C>G (p.Thr3569Ser)
7g.92099781C>TCA368158738AKAP9,CYP51A1c.1352-14179G>A (n.1352-14179G>A)
c.10808C>T (p.Thr3603Ile)
c.10880C>T (p.Thr3627Ile)
c.3800C>T (p.Thr1267Ile)
n.156C>T
c.296C>T (p.Thr99Ile)
n.2886C>T
c.5453C>T (p.Thr1818Ile)
c.*1688C>T (n.*1688C>T)
c.10784C>T (p.Thr3595Ile)
n.11006C>T
c.10754C>T (p.Thr3585Ile)
c.10550C>T (p.Thr3517Ile)
n.12478C>T
c.10631C>T (p.Thr3544Ile)
c.10715C>T (p.Thr3572Ile)
c.4447C>T (n.4447C>T)
c.10667C>T (p.Thr3556Ile)
c.10847C>T (p.Thr3616Ile)
c.4568C>T (n.4568C>T)
c.10817C>T (p.Thr3606Ile)
c.4346C>T (p.Thr1449Ile)
n.2558C>T
n.608C>T
c.10955C>T (p.Thr3652Ile)
c.10979C>T (p.Thr3660Ile)
c.10919C>T (p.Thr3640Ile)
c.10916C>T (p.Thr3639Ile)
c.10901C>T (p.Thr3634Ile)
c.10940C>T (p.Thr3647Ile)
c.10859C>T (p.Thr3620Ile)
c.10814C>T (p.Thr3605Ile)
c.10844C>T (p.Thr3615Ile)
c.10820C>T (p.Thr3607Ile)
c.5468C>T (p.Thr1823Ile)
c.5429C>T (p.Thr1810Ile)
c.10943C>T (p.Thr3648Ile)
c.10904C>T (p.Thr3635Ile)
c.10889C>T (p.Thr3630Ile)
c.10850C>T (p.Thr3617Ile)
c.10802C>T (p.Thr3601Ile)
c.10571C>T (p.Thr3524Ile)
c.6608C>T (p.Thr2203Ile)
c.5492C>T (p.Thr1831Ile)
c.10706C>T (p.Thr3569Ile)
 dbSNP
7g.92099782T>ACA456454183AKAP9,CYP51A1c.1352-14180A>T (n.1352-14180A>T)
c.10809T>A (p.Thr3603=)
c.10881T>A (p.Thr3627=)
c.3801T>A (p.Thr1267=)
n.157T>A
c.297T>A (p.Thr99=)
n.2887T>A
c.5454T>A (p.Thr1818=)
c.*1689T>A (n.*1689T>A)
c.10785T>A (p.Thr3595=)
n.11007T>A
c.10755T>A (p.Thr3585=)
c.10551T>A (p.Thr3517=)
n.12479T>A
c.10632T>A (p.Thr3544=)
c.10716T>A (p.Thr3572=)
c.4448T>A (n.4448T>A)
c.10668T>A (p.Thr3556=)
c.10848T>A (p.Thr3616=)
c.4569T>A (n.4569T>A)
c.10818T>A (p.Thr3606=)
c.4347T>A (p.Thr1449=)
n.2559T>A
n.609T>A
c.10956T>A (p.Thr3652=)
c.10980T>A (p.Thr3660=)
c.10920T>A (p.Thr3640=)
c.10917T>A (p.Thr3639=)
c.10902T>A (p.Thr3634=)
c.10941T>A (p.Thr3647=)
c.10860T>A (p.Thr3620=)
c.10815T>A (p.Thr3605=)
c.10845T>A (p.Thr3615=)
c.10821T>A (p.Thr3607=)
c.5469T>A (p.Thr1823=)
c.5430T>A (p.Thr1810=)
c.10944T>A (p.Thr3648=)
c.10905T>A (p.Thr3635=)
c.10890T>A (p.Thr3630=)
c.10851T>A (p.Thr3617=)
c.10803T>A (p.Thr3601=)
c.10572T>A (p.Thr3524=)
c.6609T>A (p.Thr2203=)
c.5493T>A (p.Thr1831=)
c.10707T>A (p.Thr3569=)
7g.92099782T>CCA456454181AKAP9,CYP51A1c.1352-14180A>G (n.1352-14180A>G)
c.10809T>C (p.Thr3603=)
c.10881T>C (p.Thr3627=)
c.3801T>C (p.Thr1267=)
n.157T>C
c.297T>C (p.Thr99=)
n.2887T>C
c.5454T>C (p.Thr1818=)
c.*1689T>C (n.*1689T>C)
c.10785T>C (p.Thr3595=)
n.11007T>C
c.10755T>C (p.Thr3585=)
c.10551T>C (p.Thr3517=)
n.12479T>C
c.10632T>C (p.Thr3544=)
c.10716T>C (p.Thr3572=)
c.4448T>C (n.4448T>C)
c.10668T>C (p.Thr3556=)
c.10848T>C (p.Thr3616=)
c.4569T>C (n.4569T>C)
c.10818T>C (p.Thr3606=)
c.4347T>C (p.Thr1449=)
n.2559T>C
n.609T>C
c.10956T>C (p.Thr3652=)
c.10980T>C (p.Thr3660=)
c.10920T>C (p.Thr3640=)
c.10917T>C (p.Thr3639=)
c.10902T>C (p.Thr3634=)
c.10941T>C (p.Thr3647=)
c.10860T>C (p.Thr3620=)
c.10815T>C (p.Thr3605=)
c.10845T>C (p.Thr3615=)
c.10821T>C (p.Thr3607=)
c.5469T>C (p.Thr1823=)
c.5430T>C (p.Thr1810=)
c.10944T>C (p.Thr3648=)
c.10905T>C (p.Thr3635=)
c.10890T>C (p.Thr3630=)
c.10851T>C (p.Thr3617=)
c.10803T>C (p.Thr3601=)
c.10572T>C (p.Thr3524=)
c.6609T>C (p.Thr2203=)
c.5493T>C (p.Thr1831=)
c.10707T>C (p.Thr3569=)
7g.92099782T>GCA456454182AKAP9,CYP51A1c.1352-14180A>C (n.1352-14180A>C)
c.10809T>G (p.Thr3603=)
c.10881T>G (p.Thr3627=)
c.3801T>G (p.Thr1267=)
n.157T>G
c.297T>G (p.Thr99=)
n.2887T>G
c.5454T>G (p.Thr1818=)
c.*1689T>G (n.*1689T>G)
c.10785T>G (p.Thr3595=)
n.11007T>G
c.10755T>G (p.Thr3585=)
c.10551T>G (p.Thr3517=)
n.12479T>G
c.10632T>G (p.Thr3544=)
c.10716T>G (p.Thr3572=)
c.4448T>G (n.4448T>G)
c.10668T>G (p.Thr3556=)
c.10848T>G (p.Thr3616=)
c.4569T>G (n.4569T>G)
c.10818T>G (p.Thr3606=)
c.4347T>G (p.Thr1449=)
n.2559T>G
n.609T>G
c.10956T>G (p.Thr3652=)
c.10980T>G (p.Thr3660=)
c.10920T>G (p.Thr3640=)
c.10917T>G (p.Thr3639=)
c.10902T>G (p.Thr3634=)
c.10941T>G (p.Thr3647=)
c.10860T>G (p.Thr3620=)
c.10815T>G (p.Thr3605=)
c.10845T>G (p.Thr3615=)
c.10821T>G (p.Thr3607=)
c.5469T>G (p.Thr1823=)
c.5430T>G (p.Thr1810=)
c.10944T>G (p.Thr3648=)
c.10905T>G (p.Thr3635=)
c.10890T>G (p.Thr3630=)
c.10851T>G (p.Thr3617=)
c.10803T>G (p.Thr3601=)
c.10572T>G (p.Thr3524=)
c.6609T>G (p.Thr2203=)
c.5493T>G (p.Thr1831=)
c.10707T>G (p.Thr3569=)
7g.92099783G>ACA368158743AKAP9,CYP51A1c.1352-14181C>T (n.1352-14181C>T)
c.10810G>A (p.Glu3604Lys)
c.10882G>A (p.Glu3628Lys)
c.3802G>A (p.Glu1268Lys)
n.158G>A
c.298G>A (p.Glu100Lys)
n.2888G>A
c.5455G>A (p.Glu1819Lys)
c.*1690G>A (n.*1690G>A)
c.10786G>A (p.Glu3596Lys)
n.11008G>A
c.10756G>A (p.Glu3586Lys)
c.10552G>A (p.Glu3518Lys)
n.12480G>A
c.10633G>A (p.Glu3545Lys)
c.10717G>A (p.Glu3573Lys)
c.4449G>A (n.4449G>A)
c.10669G>A (p.Glu3557Lys)
c.10849G>A (p.Glu3617Lys)
c.4570G>A (n.4570G>A)
c.10819G>A (p.Glu3607Lys)
c.4348G>A (p.Glu1450Lys)
n.2560G>A
n.610G>A
c.10957G>A (p.Glu3653Lys)
c.10981G>A (p.Glu3661Lys)
c.10921G>A (p.Glu3641Lys)
c.10918G>A (p.Glu3640Lys)
c.10903G>A (p.Glu3635Lys)
c.10942G>A (p.Glu3648Lys)
c.10861G>A (p.Glu3621Lys)
c.10816G>A (p.Glu3606Lys)
c.10846G>A (p.Glu3616Lys)
c.10822G>A (p.Glu3608Lys)
c.5470G>A (p.Glu1824Lys)
c.5431G>A (p.Glu1811Lys)
c.10945G>A (p.Glu3649Lys)
c.10906G>A (p.Glu3636Lys)
c.10891G>A (p.Glu3631Lys)
c.10852G>A (p.Glu3618Lys)
c.10804G>A (p.Glu3602Lys)
c.10573G>A (p.Glu3525Lys)
c.6610G>A (p.Glu2204Lys)
c.5494G>A (p.Glu1832Lys)
c.10708G>A (p.Glu3570Lys)
 COSMIC COSMIC
7g.92099783G>CCA368158746AKAP9,CYP51A1c.1352-14181C>G (n.1352-14181C>G)
c.10810G>C (p.Glu3604Gln)
c.10882G>C (p.Glu3628Gln)
c.3802G>C (p.Glu1268Gln)
n.158G>C
c.298G>C (p.Glu100Gln)
n.2888G>C
c.5455G>C (p.Glu1819Gln)
c.*1690G>C (n.*1690G>C)
c.10786G>C (p.Glu3596Gln)
n.11008G>C
c.10756G>C (p.Glu3586Gln)
c.10552G>C (p.Glu3518Gln)
n.12480G>C
c.10633G>C (p.Glu3545Gln)
c.10717G>C (p.Glu3573Gln)
c.4449G>C (n.4449G>C)
c.10669G>C (p.Glu3557Gln)
c.10849G>C (p.Glu3617Gln)
c.4570G>C (n.4570G>C)
c.10819G>C (p.Glu3607Gln)
c.4348G>C (p.Glu1450Gln)
n.2560G>C
n.610G>C
c.10957G>C (p.Glu3653Gln)
c.10981G>C (p.Glu3661Gln)
c.10921G>C (p.Glu3641Gln)
c.10918G>C (p.Glu3640Gln)
c.10903G>C (p.Glu3635Gln)
c.10942G>C (p.Glu3648Gln)
c.10861G>C (p.Glu3621Gln)
c.10816G>C (p.Glu3606Gln)
c.10846G>C (p.Glu3616Gln)
c.10822G>C (p.Glu3608Gln)
c.5470G>C (p.Glu1824Gln)
c.5431G>C (p.Glu1811Gln)
c.10945G>C (p.Glu3649Gln)
c.10906G>C (p.Glu3636Gln)
c.10891G>C (p.Glu3631Gln)
c.10852G>C (p.Glu3618Gln)
c.10804G>C (p.Glu3602Gln)
c.10573G>C (p.Glu3525Gln)
c.6610G>C (p.Glu2204Gln)
c.5494G>C (p.Glu1832Gln)
c.10708G>C (p.Glu3570Gln)
7g.92099783G>TCA368158744AKAP9,CYP51A1c.1352-14181C>A (n.1352-14181C>A)
c.10810G>T (p.Glu3604Ter)
c.10882G>T (p.Glu3628Ter)
c.3802G>T (p.Glu1268Ter)
n.158G>T
c.298G>T (p.Glu100Ter)
n.2888G>T
c.5455G>T (p.Glu1819Ter)
c.*1690G>T (n.*1690G>T)
c.10786G>T (p.Glu3596Ter)
n.11008G>T
c.10756G>T (p.Glu3586Ter)
c.10552G>T (p.Glu3518Ter)
n.12480G>T
c.10633G>T (p.Glu3545Ter)
c.10717G>T (p.Glu3573Ter)
c.4449G>T (n.4449G>T)
c.10669G>T (p.Glu3557Ter)
c.10849G>T (p.Glu3617Ter)
c.4570G>T (n.4570G>T)
c.10819G>T (p.Glu3607Ter)
c.4348G>T (p.Glu1450Ter)
n.2560G>T
n.610G>T
c.10957G>T (p.Glu3653Ter)
c.10981G>T (p.Glu3661Ter)
c.10921G>T (p.Glu3641Ter)
c.10918G>T (p.Glu3640Ter)
c.10903G>T (p.Glu3635Ter)
c.10942G>T (p.Glu3648Ter)
c.10861G>T (p.Glu3621Ter)
c.10816G>T (p.Glu3606Ter)
c.10846G>T (p.Glu3616Ter)
c.10822G>T (p.Glu3608Ter)
c.5470G>T (p.Glu1824Ter)
c.5431G>T (p.Glu1811Ter)
c.10945G>T (p.Glu3649Ter)
c.10906G>T (p.Glu3636Ter)
c.10891G>T (p.Glu3631Ter)
c.10852G>T (p.Glu3618Ter)
c.10804G>T (p.Glu3602Ter)
c.10573G>T (p.Glu3525Ter)
c.6610G>T (p.Glu2204Ter)
c.5494G>T (p.Glu1832Ter)
c.10708G>T (p.Glu3570Ter)
7g.92099784A>CCA368158747AKAP9,CYP51A1c.1352-14182T>G (n.1352-14182T>G)
c.10811A>C (p.Glu3604Ala)
c.10883A>C (p.Glu3628Ala)
c.3803A>C (p.Glu1268Ala)
n.159A>C
c.299A>C (p.Glu100Ala)
n.2889A>C
c.5456A>C (p.Glu1819Ala)
c.*1691A>C (n.*1691A>C)
c.10787A>C (p.Glu3596Ala)
n.11009A>C
c.10757A>C (p.Glu3586Ala)
c.10553A>C (p.Glu3518Ala)
n.12481A>C
c.10634A>C (p.Glu3545Ala)
c.10718A>C (p.Glu3573Ala)
c.4450A>C (n.4450A>C)
c.10670A>C (p.Glu3557Ala)
c.10850A>C (p.Glu3617Ala)
c.4571A>C (n.4571A>C)
c.10820A>C (p.Glu3607Ala)
c.4349A>C (p.Glu1450Ala)
n.2561A>C
n.611A>C
c.10958A>C (p.Glu3653Ala)
c.10982A>C (p.Glu3661Ala)
c.10922A>C (p.Glu3641Ala)
c.10919A>C (p.Glu3640Ala)
c.10904A>C (p.Glu3635Ala)
c.10943A>C (p.Glu3648Ala)
c.10862A>C (p.Glu3621Ala)
c.10817A>C (p.Glu3606Ala)
c.10847A>C (p.Glu3616Ala)
c.10823A>C (p.Glu3608Ala)
c.5471A>C (p.Glu1824Ala)
c.5432A>C (p.Glu1811Ala)
c.10946A>C (p.Glu3649Ala)
c.10907A>C (p.Glu3636Ala)
c.10892A>C (p.Glu3631Ala)
c.10853A>C (p.Glu3618Ala)
c.10805A>C (p.Glu3602Ala)
c.10574A>C (p.Glu3525Ala)
c.6611A>C (p.Glu2204Ala)
c.5495A>C (p.Glu1832Ala)
c.10709A>C (p.Glu3570Ala)
7g.92099784A>GCA368158750AKAP9,CYP51A1c.1352-14182T>C (n.1352-14182T>C)
c.10811A>G (p.Glu3604Gly)
c.10883A>G (p.Glu3628Gly)
c.3803A>G (p.Glu1268Gly)
n.159A>G
c.299A>G (p.Glu100Gly)
n.2889A>G
c.5456A>G (p.Glu1819Gly)
c.*1691A>G (n.*1691A>G)
c.10787A>G (p.Glu3596Gly)
n.11009A>G
c.10757A>G (p.Glu3586Gly)
c.10553A>G (p.Glu3518Gly)
n.12481A>G
c.10634A>G (p.Glu3545Gly)
c.10718A>G (p.Glu3573Gly)
c.4450A>G (n.4450A>G)
c.10670A>G (p.Glu3557Gly)
c.10850A>G (p.Glu3617Gly)
c.4571A>G (n.4571A>G)
c.10820A>G (p.Glu3607Gly)
c.4349A>G (p.Glu1450Gly)
n.2561A>G
n.611A>G
c.10958A>G (p.Glu3653Gly)
c.10982A>G (p.Glu3661Gly)
c.10922A>G (p.Glu3641Gly)
c.10919A>G (p.Glu3640Gly)
c.10904A>G (p.Glu3635Gly)
c.10943A>G (p.Glu3648Gly)
c.10862A>G (p.Glu3621Gly)
c.10817A>G (p.Glu3606Gly)
c.10847A>G (p.Glu3616Gly)
c.10823A>G (p.Glu3608Gly)
c.5471A>G (p.Glu1824Gly)
c.5432A>G (p.Glu1811Gly)
c.10946A>G (p.Glu3649Gly)
c.10907A>G (p.Glu3636Gly)
c.10892A>G (p.Glu3631Gly)
c.10853A>G (p.Glu3618Gly)
c.10805A>G (p.Glu3602Gly)
c.10574A>G (p.Glu3525Gly)
c.6611A>G (p.Glu2204Gly)
c.5495A>G (p.Glu1832Gly)
c.10709A>G (p.Glu3570Gly)
7g.92099784A>TCA368158751AKAP9,CYP51A1c.1352-14182T>A (n.1352-14182T>A)
c.10811A>T (p.Glu3604Val)
c.10883A>T (p.Glu3628Val)
c.3803A>T (p.Glu1268Val)
n.159A>T
c.299A>T (p.Glu100Val)
n.2889A>T
c.5456A>T (p.Glu1819Val)
c.*1691A>T (n.*1691A>T)
c.10787A>T (p.Glu3596Val)
n.11009A>T
c.10757A>T (p.Glu3586Val)
c.10553A>T (p.Glu3518Val)
n.12481A>T
c.10634A>T (p.Glu3545Val)
c.10718A>T (p.Glu3573Val)
c.4450A>T (n.4450A>T)
c.10670A>T (p.Glu3557Val)
c.10850A>T (p.Glu3617Val)
c.4571A>T (n.4571A>T)
c.10820A>T (p.Glu3607Val)
c.4349A>T (p.Glu1450Val)
n.2561A>T
n.611A>T
c.10958A>T (p.Glu3653Val)
c.10982A>T (p.Glu3661Val)
c.10922A>T (p.Glu3641Val)
c.10919A>T (p.Glu3640Val)
c.10904A>T (p.Glu3635Val)
c.10943A>T (p.Glu3648Val)
c.10862A>T (p.Glu3621Val)
c.10817A>T (p.Glu3606Val)
c.10847A>T (p.Glu3616Val)
c.10823A>T (p.Glu3608Val)
c.5471A>T (p.Glu1824Val)
c.5432A>T (p.Glu1811Val)
c.10946A>T (p.Glu3649Val)
c.10907A>T (p.Glu3636Val)
c.10892A>T (p.Glu3631Val)
c.10853A>T (p.Glu3618Val)
c.10805A>T (p.Glu3602Val)
c.10574A>T (p.Glu3525Val)
c.6611A>T (p.Glu2204Val)
c.5495A>T (p.Glu1832Val)
c.10709A>T (p.Glu3570Val)
7g.92099785A>CCA368158753AKAP9,CYP51A1c.1352-14183T>G (n.1352-14183T>G)
c.10812A>C (p.Glu3604Asp)
c.10884A>C (p.Glu3628Asp)
c.3804A>C (p.Glu1268Asp)
n.160A>C
c.300A>C (p.Glu100Asp)
n.2890A>C
c.5457A>C (p.Glu1819Asp)
c.*1692A>C (n.*1692A>C)
c.10788A>C (p.Glu3596Asp)
n.11010A>C
c.10758A>C (p.Glu3586Asp)
c.10554A>C (p.Glu3518Asp)
n.12482A>C
c.10635A>C (p.Glu3545Asp)
c.10719A>C (p.Glu3573Asp)
c.4451A>C (n.4451A>C)
c.10671A>C (p.Glu3557Asp)
c.10851A>C (p.Glu3617Asp)
c.4572A>C (n.4572A>C)
c.10821A>C (p.Glu3607Asp)
c.4350A>C (p.Glu1450Asp)
n.2562A>C
n.612A>C
c.10959A>C (p.Glu3653Asp)
c.10983A>C (p.Glu3661Asp)
c.10923A>C (p.Glu3641Asp)
c.10920A>C (p.Glu3640Asp)
c.10905A>C (p.Glu3635Asp)
c.10944A>C (p.Glu3648Asp)
c.10863A>C (p.Glu3621Asp)
c.10818A>C (p.Glu3606Asp)
c.10848A>C (p.Glu3616Asp)
c.10824A>C (p.Glu3608Asp)
c.5472A>C (p.Glu1824Asp)
c.5433A>C (p.Glu1811Asp)
c.10947A>C (p.Glu3649Asp)
c.10908A>C (p.Glu3636Asp)
c.10893A>C (p.Glu3631Asp)
c.10854A>C (p.Glu3618Asp)
c.10806A>C (p.Glu3602Asp)
c.10575A>C (p.Glu3525Asp)
c.6612A>C (p.Glu2204Asp)
c.5496A>C (p.Glu1832Asp)
c.10710A>C (p.Glu3570Asp)
7g.92099785A>GCA456454188AKAP9,CYP51A1c.1352-14183T>C (n.1352-14183T>C)
c.10812A>G (p.Glu3604=)
c.10884A>G (p.Glu3628=)
c.3804A>G (p.Glu1268=)
n.160A>G
c.300A>G (p.Glu100=)
n.2890A>G
c.5457A>G (p.Glu1819=)
c.*1692A>G (n.*1692A>G)
c.10788A>G (p.Glu3596=)
n.11010A>G
c.10758A>G (p.Glu3586=)
c.10554A>G (p.Glu3518=)
n.12482A>G
c.10635A>G (p.Glu3545=)
c.10719A>G (p.Glu3573=)
c.4451A>G (n.4451A>G)
c.10671A>G (p.Glu3557=)
c.10851A>G (p.Glu3617=)
c.4572A>G (n.4572A>G)
c.10821A>G (p.Glu3607=)
c.4350A>G (p.Glu1450=)
n.2562A>G
n.612A>G
c.10959A>G (p.Glu3653=)
c.10983A>G (p.Glu3661=)
c.10923A>G (p.Glu3641=)
c.10920A>G (p.Glu3640=)
c.10905A>G (p.Glu3635=)
c.10944A>G (p.Glu3648=)
c.10863A>G (p.Glu3621=)
c.10818A>G (p.Glu3606=)
c.10848A>G (p.Glu3616=)
c.10824A>G (p.Glu3608=)
c.5472A>G (p.Glu1824=)
c.5433A>G (p.Glu1811=)
c.10947A>G (p.Glu3649=)
c.10908A>G (p.Glu3636=)
c.10893A>G (p.Glu3631=)
c.10854A>G (p.Glu3618=)
c.10806A>G (p.Glu3602=)
c.10575A>G (p.Glu3525=)
c.6612A>G (p.Glu2204=)
c.5496A>G (p.Glu1832=)
c.10710A>G (p.Glu3570=)
7g.92099785A>TCA368158755AKAP9,CYP51A1c.1352-14183T>A (n.1352-14183T>A)
c.10812A>T (p.Glu3604Asp)
c.10884A>T (p.Glu3628Asp)
c.3804A>T (p.Glu1268Asp)
n.160A>T
c.300A>T (p.Glu100Asp)
n.2890A>T
c.5457A>T (p.Glu1819Asp)
c.*1692A>T (n.*1692A>T)
c.10788A>T (p.Glu3596Asp)
n.11010A>T
c.10758A>T (p.Glu3586Asp)
c.10554A>T (p.Glu3518Asp)
n.12482A>T
c.10635A>T (p.Glu3545Asp)
c.10719A>T (p.Glu3573Asp)
c.4451A>T (n.4451A>T)
c.10671A>T (p.Glu3557Asp)
c.10851A>T (p.Glu3617Asp)
c.4572A>T (n.4572A>T)
c.10821A>T (p.Glu3607Asp)
c.4350A>T (p.Glu1450Asp)
n.2562A>T
n.612A>T
c.10959A>T (p.Glu3653Asp)
c.10983A>T (p.Glu3661Asp)
c.10923A>T (p.Glu3641Asp)
c.10920A>T (p.Glu3640Asp)
c.10905A>T (p.Glu3635Asp)
c.10944A>T (p.Glu3648Asp)
c.10863A>T (p.Glu3621Asp)
c.10818A>T (p.Glu3606Asp)
c.10848A>T (p.Glu3616Asp)
c.10824A>T (p.Glu3608Asp)
c.5472A>T (p.Glu1824Asp)
c.5433A>T (p.Glu1811Asp)
c.10947A>T (p.Glu3649Asp)
c.10908A>T (p.Glu3636Asp)
c.10893A>T (p.Glu3631Asp)
c.10854A>T (p.Glu3618Asp)
c.10806A>T (p.Glu3602Asp)
c.10575A>T (p.Glu3525Asp)
c.6612A>T (p.Glu2204Asp)
c.5496A>T (p.Glu1832Asp)
c.10710A>T (p.Glu3570Asp)
7g.92099786G>ACA368158756AKAP9,CYP51A1c.1352-14184C>T (n.1352-14184C>T)
c.10813G>A (p.Glu3605Lys)
c.10885G>A (p.Glu3629Lys)
c.3805G>A (p.Glu1269Lys)
n.161G>A
c.301G>A (p.Glu101Lys)
n.2891G>A
c.5458G>A (p.Glu1820Lys)
c.*1693G>A (n.*1693G>A)
c.10789G>A (p.Glu3597Lys)
n.11011G>A
c.10759G>A (p.Glu3587Lys)
c.10555G>A (p.Glu3519Lys)
n.12483G>A
c.10636G>A (p.Glu3546Lys)
c.10720G>A (p.Glu3574Lys)
c.4452G>A (n.4452G>A)
c.10672G>A (p.Glu3558Lys)
c.10852G>A (p.Glu3618Lys)
c.4573G>A (n.4573G>A)
c.10822G>A (p.Glu3608Lys)
c.4351G>A (p.Glu1451Lys)
n.2563G>A
n.613G>A
c.10960G>A (p.Glu3654Lys)
c.10984G>A (p.Glu3662Lys)
c.10924G>A (p.Glu3642Lys)
c.10921G>A (p.Glu3641Lys)
c.10906G>A (p.Glu3636Lys)
c.10945G>A (p.Glu3649Lys)
c.10864G>A (p.Glu3622Lys)
c.10819G>A (p.Glu3607Lys)
c.10849G>A (p.Glu3617Lys)
c.10825G>A (p.Glu3609Lys)
c.5473G>A (p.Glu1825Lys)
c.5434G>A (p.Glu1812Lys)
c.10948G>A (p.Glu3650Lys)
c.10909G>A (p.Glu3637Lys)
c.10894G>A (p.Glu3632Lys)
c.10855G>A (p.Glu3619Lys)
c.10807G>A (p.Glu3603Lys)
c.10576G>A (p.Glu3526Lys)
c.6613G>A (p.Glu2205Lys)
c.5497G>A (p.Glu1833Lys)
c.10711G>A (p.Glu3571Lys)
 dbSNP
7g.92099786G>CCA368158758AKAP9,CYP51A1c.1352-14184C>G (n.1352-14184C>G)
c.10813G>C (p.Glu3605Gln)
c.10885G>C (p.Glu3629Gln)
c.3805G>C (p.Glu1269Gln)
n.161G>C
c.301G>C (p.Glu101Gln)
n.2891G>C
c.5458G>C (p.Glu1820Gln)
c.*1693G>C (n.*1693G>C)
c.10789G>C (p.Glu3597Gln)
n.11011G>C
c.10759G>C (p.Glu3587Gln)
c.10555G>C (p.Glu3519Gln)
n.12483G>C
c.10636G>C (p.Glu3546Gln)
c.10720G>C (p.Glu3574Gln)
c.4452G>C (n.4452G>C)
c.10672G>C (p.Glu3558Gln)
c.10852G>C (p.Glu3618Gln)
c.4573G>C (n.4573G>C)
c.10822G>C (p.Glu3608Gln)
c.4351G>C (p.Glu1451Gln)
n.2563G>C
n.613G>C
c.10960G>C (p.Glu3654Gln)
c.10984G>C (p.Glu3662Gln)
c.10924G>C (p.Glu3642Gln)
c.10921G>C (p.Glu3641Gln)
c.10906G>C (p.Glu3636Gln)
c.10945G>C (p.Glu3649Gln)
c.10864G>C (p.Glu3622Gln)
c.10819G>C (p.Glu3607Gln)
c.10849G>C (p.Glu3617Gln)
c.10825G>C (p.Glu3609Gln)
c.5473G>C (p.Glu1825Gln)
c.5434G>C (p.Glu1812Gln)
c.10948G>C (p.Glu3650Gln)
c.10909G>C (p.Glu3637Gln)
c.10894G>C (p.Glu3632Gln)
c.10855G>C (p.Glu3619Gln)
c.10807G>C (p.Glu3603Gln)
c.10576G>C (p.Glu3526Gln)
c.6613G>C (p.Glu2205Gln)
c.5497G>C (p.Glu1833Gln)
c.10711G>C (p.Glu3571Gln)
7g.92099786G=CA1725766416AKAP9,CYP51A1c.1352-14184C= (n.1352-14184C=)
c.10813G= (p.Glu3605=)
c.10885G= (p.Glu3629=)
c.3805G= (p.Glu1269=)
n.161G=
c.301G= (p.Glu101=)
n.2891G=
c.5458G= (p.Glu1820=)
c.*1693G= (n.*1693G=)
c.10789G= (p.Glu3597=)
n.11011G=
c.10759G= (p.Glu3587=)
c.10555G= (p.Glu3519=)
n.12483G=
c.10636G= (p.Glu3546=)
c.10720G= (p.Glu3574=)
c.4452G= (n.4452G=)
c.10672G= (p.Glu3558=)
c.10852G= (p.Glu3618=)
c.4573G= (n.4573G=)
c.10822G= (p.Glu3608=)
c.4351G= (p.Glu1451=)
n.2563G=
n.613G=
c.10960G= (p.Glu3654=)
c.10984G= (p.Glu3662=)
c.10924G= (p.Glu3642=)
c.10921G= (p.Glu3641=)
c.10906G= (p.Glu3636=)
c.10945G= (p.Glu3649=)
c.10864G= (p.Glu3622=)
c.10819G= (p.Glu3607=)
c.10849G= (p.Glu3617=)
c.10825G= (p.Glu3609=)
c.5473G= (p.Glu1825=)
c.5434G= (p.Glu1812=)
c.10948G= (p.Glu3650=)
c.10909G= (p.Glu3637=)
c.10894G= (p.Glu3632=)
c.10855G= (p.Glu3619=)
c.10807G= (p.Glu3603=)
c.10576G= (p.Glu3526=)
c.6613G= (p.Glu2205=)
c.5497G= (p.Glu1833=)
c.10711G= (p.Glu3571=)
7g.92099786G>TCA368158759AKAP9,CYP51A1c.1352-14184C>A (n.1352-14184C>A)
c.10813G>T (p.Glu3605Ter)
c.10885G>T (p.Glu3629Ter)
c.3805G>T (p.Glu1269Ter)
n.161G>T
c.301G>T (p.Glu101Ter)
n.2891G>T
c.5458G>T (p.Glu1820Ter)
c.*1693G>T (n.*1693G>T)
c.10789G>T (p.Glu3597Ter)
n.11011G>T
c.10759G>T (p.Glu3587Ter)
c.10555G>T (p.Glu3519Ter)
n.12483G>T
c.10636G>T (p.Glu3546Ter)
c.10720G>T (p.Glu3574Ter)
c.4452G>T (n.4452G>T)
c.10672G>T (p.Glu3558Ter)
c.10852G>T (p.Glu3618Ter)
c.4573G>T (n.4573G>T)
c.10822G>T (p.Glu3608Ter)
c.4351G>T (p.Glu1451Ter)
n.2563G>T
n.613G>T
c.10960G>T (p.Glu3654Ter)
c.10984G>T (p.Glu3662Ter)
c.10924G>T (p.Glu3642Ter)
c.10921G>T (p.Glu3641Ter)
c.10906G>T (p.Glu3636Ter)
c.10945G>T (p.Glu3649Ter)
c.10864G>T (p.Glu3622Ter)
c.10819G>T (p.Glu3607Ter)
c.10849G>T (p.Glu3617Ter)
c.10825G>T (p.Glu3609Ter)
c.5473G>T (p.Glu1825Ter)
c.5434G>T (p.Glu1812Ter)
c.10948G>T (p.Glu3650Ter)
c.10909G>T (p.Glu3637Ter)
c.10894G>T (p.Glu3632Ter)
c.10855G>T (p.Glu3619Ter)
c.10807G>T (p.Glu3603Ter)
c.10576G>T (p.Glu3526Ter)
c.6613G>T (p.Glu2205Ter)
c.5497G>T (p.Glu1833Ter)
c.10711G>T (p.Glu3571Ter)
7g.92099787A>CCA368158760AKAP9,CYP51A1c.1352-14185T>G (n.1352-14185T>G)
c.10814A>C (p.Glu3605Ala)
c.10886A>C (p.Glu3629Ala)
c.3806A>C (p.Glu1269Ala)
n.162A>C
c.302A>C (p.Glu101Ala)
n.2892A>C
c.5459A>C (p.Glu1820Ala)
c.*1694A>C (n.*1694A>C)
c.10790A>C (p.Glu3597Ala)
n.11012A>C
c.10760A>C (p.Glu3587Ala)
c.10556A>C (p.Glu3519Ala)
n.12484A>C
c.10637A>C (p.Glu3546Ala)
c.10721A>C (p.Glu3574Ala)
c.4453A>C (n.4453A>C)
c.10673A>C (p.Glu3558Ala)
c.10853A>C (p.Glu3618Ala)
c.4574A>C (n.4574A>C)
c.10823A>C (p.Glu3608Ala)
c.4352A>C (p.Glu1451Ala)
n.2564A>C
n.614A>C
c.10961A>C (p.Glu3654Ala)
c.10985A>C (p.Glu3662Ala)
c.10925A>C (p.Glu3642Ala)
c.10922A>C (p.Glu3641Ala)
c.10907A>C (p.Glu3636Ala)
c.10946A>C (p.Glu3649Ala)
c.10865A>C (p.Glu3622Ala)
c.10820A>C (p.Glu3607Ala)
c.10850A>C (p.Glu3617Ala)
c.10826A>C (p.Glu3609Ala)
c.5474A>C (p.Glu1825Ala)
c.5435A>C (p.Glu1812Ala)
c.10949A>C (p.Glu3650Ala)
c.10910A>C (p.Glu3637Ala)
c.10895A>C (p.Glu3632Ala)
c.10856A>C (p.Glu3619Ala)
c.10808A>C (p.Glu3603Ala)
c.10577A>C (p.Glu3526Ala)
c.6614A>C (p.Glu2205Ala)
c.5498A>C (p.Glu1833Ala)
c.10712A>C (p.Glu3571Ala)
7g.92099787A>GCA368158765AKAP9,CYP51A1c.1352-14185T>C (n.1352-14185T>C)
c.10814A>G (p.Glu3605Gly)
c.10886A>G (p.Glu3629Gly)
c.3806A>G (p.Glu1269Gly)
n.162A>G
c.302A>G (p.Glu101Gly)
n.2892A>G
c.5459A>G (p.Glu1820Gly)
c.*1694A>G (n.*1694A>G)
c.10790A>G (p.Glu3597Gly)
n.11012A>G
c.10760A>G (p.Glu3587Gly)
c.10556A>G (p.Glu3519Gly)
n.12484A>G
c.10637A>G (p.Glu3546Gly)
c.10721A>G (p.Glu3574Gly)
c.4453A>G (n.4453A>G)
c.10673A>G (p.Glu3558Gly)
c.10853A>G (p.Glu3618Gly)
c.4574A>G (n.4574A>G)
c.10823A>G (p.Glu3608Gly)
c.4352A>G (p.Glu1451Gly)
n.2564A>G
n.614A>G
c.10961A>G (p.Glu3654Gly)
c.10985A>G (p.Glu3662Gly)
c.10925A>G (p.Glu3642Gly)
c.10922A>G (p.Glu3641Gly)
c.10907A>G (p.Glu3636Gly)
c.10946A>G (p.Glu3649Gly)
c.10865A>G (p.Glu3622Gly)
c.10820A>G (p.Glu3607Gly)
c.10850A>G (p.Glu3617Gly)
c.10826A>G (p.Glu3609Gly)
c.5474A>G (p.Glu1825Gly)
c.5435A>G (p.Glu1812Gly)
c.10949A>G (p.Glu3650Gly)
c.10910A>G (p.Glu3637Gly)
c.10895A>G (p.Glu3632Gly)
c.10856A>G (p.Glu3619Gly)
c.10808A>G (p.Glu3603Gly)
c.10577A>G (p.Glu3526Gly)
c.6614A>G (p.Glu2205Gly)
c.5498A>G (p.Glu1833Gly)
c.10712A>G (p.Glu3571Gly)
 gnomAD v4
7g.92099787A>TCA368158767AKAP9,CYP51A1c.1352-14185T>A (n.1352-14185T>A)
c.10814A>T (p.Glu3605Val)
c.10886A>T (p.Glu3629Val)
c.3806A>T (p.Glu1269Val)
n.162A>T
c.302A>T (p.Glu101Val)
n.2892A>T
c.5459A>T (p.Glu1820Val)
c.*1694A>T (n.*1694A>T)
c.10790A>T (p.Glu3597Val)
n.11012A>T
c.10760A>T (p.Glu3587Val)
c.10556A>T (p.Glu3519Val)
n.12484A>T
c.10637A>T (p.Glu3546Val)
c.10721A>T (p.Glu3574Val)
c.4453A>T (n.4453A>T)
c.10673A>T (p.Glu3558Val)
c.10853A>T (p.Glu3618Val)
c.4574A>T (n.4574A>T)
c.10823A>T (p.Glu3608Val)
c.4352A>T (p.Glu1451Val)
n.2564A>T
n.614A>T
c.10961A>T (p.Glu3654Val)
c.10985A>T (p.Glu3662Val)
c.10925A>T (p.Glu3642Val)
c.10922A>T (p.Glu3641Val)
c.10907A>T (p.Glu3636Val)
c.10946A>T (p.Glu3649Val)
c.10865A>T (p.Glu3622Val)
c.10820A>T (p.Glu3607Val)
c.10850A>T (p.Glu3617Val)
c.10826A>T (p.Glu3609Val)
c.5474A>T (p.Glu1825Val)
c.5435A>T (p.Glu1812Val)
c.10949A>T (p.Glu3650Val)
c.10910A>T (p.Glu3637Val)
c.10895A>T (p.Glu3632Val)
c.10856A>T (p.Glu3619Val)
c.10808A>T (p.Glu3603Val)
c.10577A>T (p.Glu3526Val)
c.6614A>T (p.Glu2205Val)
c.5498A>T (p.Glu1833Val)
c.10712A>T (p.Glu3571Val)
7g.92099788G>ACA456454191AKAP9,CYP51A1c.1352-14186C>T (n.1352-14186C>T)
c.10815G>A (p.Glu3605=)
c.10887G>A (p.Glu3629=)
c.3807G>A (p.Glu1269=)
n.163G>A
c.303G>A (p.Glu101=)
n.2893G>A
c.5460G>A (p.Glu1820=)
c.*1695G>A (n.*1695G>A)
c.10791G>A (p.Glu3597=)
n.11013G>A
c.10761G>A (p.Glu3587=)
c.10557G>A (p.Glu3519=)
n.12485G>A
c.10638G>A (p.Glu3546=)
c.10722G>A (p.Glu3574=)
c.4454G>A (n.4454G>A)
c.10674G>A (p.Glu3558=)
c.10854G>A (p.Glu3618=)
c.4575G>A (n.4575G>A)
c.10824G>A (p.Glu3608=)
c.4353G>A (p.Glu1451=)
n.2565G>A
n.615G>A
c.10962G>A (p.Glu3654=)
c.10986G>A (p.Glu3662=)
c.10926G>A (p.Glu3642=)
c.10923G>A (p.Glu3641=)
c.10908G>A (p.Glu3636=)
c.10947G>A (p.Glu3649=)
c.10866G>A (p.Glu3622=)
c.10821G>A (p.Glu3607=)
c.10851G>A (p.Glu3617=)
c.10827G>A (p.Glu3609=)
c.5475G>A (p.Glu1825=)
c.5436G>A (p.Glu1812=)
c.10950G>A (p.Glu3650=)
c.10911G>A (p.Glu3637=)
c.10896G>A (p.Glu3632=)
c.10857G>A (p.Glu3619=)
c.10809G>A (p.Glu3603=)
c.10578G>A (p.Glu3526=)
c.6615G>A (p.Glu2205=)
c.5499G>A (p.Glu1833=)
c.10713G>A (p.Glu3571=)
7g.92099788G>CCA368158774AKAP9,CYP51A1c.1352-14186C>G (n.1352-14186C>G)
c.10815G>C (p.Glu3605Asp)
c.10887G>C (p.Glu3629Asp)
c.3807G>C (p.Glu1269Asp)
n.163G>C
c.303G>C (p.Glu101Asp)
n.2893G>C
c.5460G>C (p.Glu1820Asp)
c.*1695G>C (n.*1695G>C)
c.10791G>C (p.Glu3597Asp)
n.11013G>C
c.10761G>C (p.Glu3587Asp)
c.10557G>C (p.Glu3519Asp)
n.12485G>C
c.10638G>C (p.Glu3546Asp)
c.10722G>C (p.Glu3574Asp)
c.4454G>C (n.4454G>C)
c.10674G>C (p.Glu3558Asp)
c.10854G>C (p.Glu3618Asp)
c.4575G>C (n.4575G>C)
c.10824G>C (p.Glu3608Asp)
c.4353G>C (p.Glu1451Asp)
n.2565G>C
n.615G>C
c.10962G>C (p.Glu3654Asp)
c.10986G>C (p.Glu3662Asp)
c.10926G>C (p.Glu3642Asp)
c.10923G>C (p.Glu3641Asp)
c.10908G>C (p.Glu3636Asp)
c.10947G>C (p.Glu3649Asp)
c.10866G>C (p.Glu3622Asp)
c.10821G>C (p.Glu3607Asp)
c.10851G>C (p.Glu3617Asp)
c.10827G>C (p.Glu3609Asp)
c.5475G>C (p.Glu1825Asp)
c.5436G>C (p.Glu1812Asp)
c.10950G>C (p.Glu3650Asp)
c.10911G>C (p.Glu3637Asp)
c.10896G>C (p.Glu3632Asp)
c.10857G>C (p.Glu3619Asp)
c.10809G>C (p.Glu3603Asp)
c.10578G>C (p.Glu3526Asp)
c.6615G>C (p.Glu2205Asp)
c.5499G>C (p.Glu1833Asp)
c.10713G>C (p.Glu3571Asp)
7g.92099788G>TCA368158776AKAP9,CYP51A1c.1352-14186C>A (n.1352-14186C>A)
c.10815G>T (p.Glu3605Asp)
c.10887G>T (p.Glu3629Asp)
c.3807G>T (p.Glu1269Asp)
n.163G>T
c.303G>T (p.Glu101Asp)
n.2893G>T
c.5460G>T (p.Glu1820Asp)
c.*1695G>T (n.*1695G>T)
c.10791G>T (p.Glu3597Asp)
n.11013G>T
c.10761G>T (p.Glu3587Asp)
c.10557G>T (p.Glu3519Asp)
n.12485G>T
c.10638G>T (p.Glu3546Asp)
c.10722G>T (p.Glu3574Asp)
c.4454G>T (n.4454G>T)
c.10674G>T (p.Glu3558Asp)
c.10854G>T (p.Glu3618Asp)
c.4575G>T (n.4575G>T)
c.10824G>T (p.Glu3608Asp)
c.4353G>T (p.Glu1451Asp)
n.2565G>T
n.615G>T
c.10962G>T (p.Glu3654Asp)
c.10986G>T (p.Glu3662Asp)
c.10926G>T (p.Glu3642Asp)
c.10923G>T (p.Glu3641Asp)
c.10908G>T (p.Glu3636Asp)
c.10947G>T (p.Glu3649Asp)
c.10866G>T (p.Glu3622Asp)
c.10821G>T (p.Glu3607Asp)
c.10851G>T (p.Glu3617Asp)
c.10827G>T (p.Glu3609Asp)
c.5475G>T (p.Glu1825Asp)
c.5436G>T (p.Glu1812Asp)
c.10950G>T (p.Glu3650Asp)
c.10911G>T (p.Glu3637Asp)
c.10896G>T (p.Glu3632Asp)
c.10857G>T (p.Glu3619Asp)
c.10809G>T (p.Glu3603Asp)
c.10578G>T (p.Glu3526Asp)
c.6615G>T (p.Glu2205Asp)
c.5499G>T (p.Glu1833Asp)
c.10713G>T (p.Glu3571Asp)
7g.92099789A>CCA368158777AKAP9,CYP51A1c.1352-14187T>G (n.1352-14187T>G)
c.10816A>C (p.Lys3606Gln)
c.10888A>C (p.Lys3630Gln)
c.3808A>C (p.Lys1270Gln)
n.164A>C
c.304A>C (p.Lys102Gln)
n.2894A>C
c.5461A>C (p.Lys1821Gln)
c.*1696A>C (n.*1696A>C)
c.10792A>C (p.Lys3598Gln)
n.11014A>C
c.10762A>C (p.Lys3588Gln)
c.10558A>C (p.Lys3520Gln)
n.12486A>C
c.10639A>C (p.Lys3547Gln)
c.10723A>C (p.Lys3575Gln)
c.4455A>C (n.4455A>C)
c.10675A>C (p.Lys3559Gln)
c.10855A>C (p.Lys3619Gln)
c.4576A>C (n.4576A>C)
c.10825A>C (p.Lys3609Gln)
c.4354A>C (p.Lys1452Gln)
n.2566A>C
n.616A>C
c.10963A>C (p.Lys3655Gln)
c.10987A>C (p.Lys3663Gln)
c.10927A>C (p.Lys3643Gln)
c.10924A>C (p.Lys3642Gln)
c.10909A>C (p.Lys3637Gln)
c.10948A>C (p.Lys3650Gln)
c.10867A>C (p.Lys3623Gln)
c.10822A>C (p.Lys3608Gln)
c.10852A>C (p.Lys3618Gln)
c.10828A>C (p.Lys3610Gln)
c.5476A>C (p.Lys1826Gln)
c.5437A>C (p.Lys1813Gln)
c.10951A>C (p.Lys3651Gln)
c.10912A>C (p.Lys3638Gln)
c.10897A>C (p.Lys3633Gln)
c.10858A>C (p.Lys3620Gln)
c.10810A>C (p.Lys3604Gln)
c.10579A>C (p.Lys3527Gln)
c.6616A>C (p.Lys2206Gln)
c.5500A>C (p.Lys1834Gln)
c.10714A>C (p.Lys3572Gln)
7g.92099789A>GCA368158780AKAP9,CYP51A1c.1352-14187T>C (n.1352-14187T>C)
c.10816A>G (p.Lys3606Glu)
c.10888A>G (p.Lys3630Glu)
c.3808A>G (p.Lys1270Glu)
n.164A>G
c.304A>G (p.Lys102Glu)
n.2894A>G
c.5461A>G (p.Lys1821Glu)
c.*1696A>G (n.*1696A>G)
c.10792A>G (p.Lys3598Glu)
n.11014A>G
c.10762A>G (p.Lys3588Glu)
c.10558A>G (p.Lys3520Glu)
n.12486A>G
c.10639A>G (p.Lys3547Glu)
c.10723A>G (p.Lys3575Glu)
c.4455A>G (n.4455A>G)
c.10675A>G (p.Lys3559Glu)
c.10855A>G (p.Lys3619Glu)
c.4576A>G (n.4576A>G)
c.10825A>G (p.Lys3609Glu)
c.4354A>G (p.Lys1452Glu)
n.2566A>G
n.616A>G
c.10963A>G (p.Lys3655Glu)
c.10987A>G (p.Lys3663Glu)
c.10927A>G (p.Lys3643Glu)
c.10924A>G (p.Lys3642Glu)
c.10909A>G (p.Lys3637Glu)
c.10948A>G (p.Lys3650Glu)
c.10867A>G (p.Lys3623Glu)
c.10822A>G (p.Lys3608Glu)
c.10852A>G (p.Lys3618Glu)
c.10828A>G (p.Lys3610Glu)
c.5476A>G (p.Lys1826Glu)
c.5437A>G (p.Lys1813Glu)
c.10951A>G (p.Lys3651Glu)
c.10912A>G (p.Lys3638Glu)
c.10897A>G (p.Lys3633Glu)
c.10858A>G (p.Lys3620Glu)
c.10810A>G (p.Lys3604Glu)
c.10579A>G (p.Lys3527Glu)
c.6616A>G (p.Lys2206Glu)
c.5500A>G (p.Lys1834Glu)
c.10714A>G (p.Lys3572Glu)
 gnomAD v4
7g.92099789A>TCA368158778AKAP9,CYP51A1c.1352-14187T>A (n.1352-14187T>A)
c.10816A>T (p.Lys3606Ter)
c.10888A>T (p.Lys3630Ter)
c.3808A>T (p.Lys1270Ter)
n.164A>T
c.304A>T (p.Lys102Ter)
n.2894A>T
c.5461A>T (p.Lys1821Ter)
c.*1696A>T (n.*1696A>T)
c.10792A>T (p.Lys3598Ter)
n.11014A>T
c.10762A>T (p.Lys3588Ter)
c.10558A>T (p.Lys3520Ter)
n.12486A>T
c.10639A>T (p.Lys3547Ter)
c.10723A>T (p.Lys3575Ter)
c.4455A>T (n.4455A>T)
c.10675A>T (p.Lys3559Ter)
c.10855A>T (p.Lys3619Ter)
c.4576A>T (n.4576A>T)
c.10825A>T (p.Lys3609Ter)
c.4354A>T (p.Lys1452Ter)
n.2566A>T
n.616A>T
c.10963A>T (p.Lys3655Ter)
c.10987A>T (p.Lys3663Ter)
c.10927A>T (p.Lys3643Ter)
c.10924A>T (p.Lys3642Ter)
c.10909A>T (p.Lys3637Ter)
c.10948A>T (p.Lys3650Ter)
c.10867A>T (p.Lys3623Ter)
c.10822A>T (p.Lys3608Ter)
c.10852A>T (p.Lys3618Ter)
c.10828A>T (p.Lys3610Ter)
c.5476A>T (p.Lys1826Ter)
c.5437A>T (p.Lys1813Ter)
c.10951A>T (p.Lys3651Ter)
c.10912A>T (p.Lys3638Ter)
c.10897A>T (p.Lys3633Ter)
c.10858A>T (p.Lys3620Ter)
c.10810A>T (p.Lys3604Ter)
c.10579A>T (p.Lys3527Ter)
c.6616A>T (p.Lys2206Ter)
c.5500A>T (p.Lys1834Ter)
c.10714A>T (p.Lys3572Ter)
7g.92099790A>CCA368158782AKAP9,CYP51A1c.1352-14188T>G (n.1352-14188T>G)
c.10817A>C (p.Lys3606Thr)
c.10889A>C (p.Lys3630Thr)
c.3809A>C (p.Lys1270Thr)
n.165A>C
c.305A>C (p.Lys102Thr)
n.2895A>C
c.5462A>C (p.Lys1821Thr)
c.*1697A>C (n.*1697A>C)
c.10793A>C (p.Lys3598Thr)
n.11015A>C
c.10763A>C (p.Lys3588Thr)
c.10559A>C (p.Lys3520Thr)
n.12487A>C
c.10640A>C (p.Lys3547Thr)
c.10724A>C (p.Lys3575Thr)
c.4456A>C (n.4456A>C)
c.10676A>C (p.Lys3559Thr)
c.10856A>C (p.Lys3619Thr)
c.4577A>C (n.4577A>C)
c.10826A>C (p.Lys3609Thr)
c.4355A>C (p.Lys1452Thr)
n.2567A>C
n.617A>C
c.10964A>C (p.Lys3655Thr)
c.10988A>C (p.Lys3663Thr)
c.10928A>C (p.Lys3643Thr)
c.10925A>C (p.Lys3642Thr)
c.10910A>C (p.Lys3637Thr)
c.10949A>C (p.Lys3650Thr)
c.10868A>C (p.Lys3623Thr)
c.10823A>C (p.Lys3608Thr)
c.10853A>C (p.Lys3618Thr)
c.10829A>C (p.Lys3610Thr)
c.5477A>C (p.Lys1826Thr)
c.5438A>C (p.Lys1813Thr)
c.10952A>C (p.Lys3651Thr)
c.10913A>C (p.Lys3638Thr)
c.10898A>C (p.Lys3633Thr)
c.10859A>C (p.Lys3620Thr)
c.10811A>C (p.Lys3604Thr)
c.10580A>C (p.Lys3527Thr)
c.6617A>C (p.Lys2206Thr)
c.5501A>C (p.Lys1834Thr)
c.10715A>C (p.Lys3572Thr)
7g.92099790A>GCA368158784AKAP9,CYP51A1c.1352-14188T>C (n.1352-14188T>C)
c.10817A>G (p.Lys3606Arg)
c.10889A>G (p.Lys3630Arg)
c.3809A>G (p.Lys1270Arg)
n.165A>G
c.305A>G (p.Lys102Arg)
n.2895A>G
c.5462A>G (p.Lys1821Arg)
c.*1697A>G (n.*1697A>G)
c.10793A>G (p.Lys3598Arg)
n.11015A>G
c.10763A>G (p.Lys3588Arg)
c.10559A>G (p.Lys3520Arg)
n.12487A>G
c.10640A>G (p.Lys3547Arg)
c.10724A>G (p.Lys3575Arg)
c.4456A>G (n.4456A>G)
c.10676A>G (p.Lys3559Arg)
c.10856A>G (p.Lys3619Arg)
c.4577A>G (n.4577A>G)
c.10826A>G (p.Lys3609Arg)
c.4355A>G (p.Lys1452Arg)
n.2567A>G
n.617A>G
c.10964A>G (p.Lys3655Arg)
c.10988A>G (p.Lys3663Arg)
c.10928A>G (p.Lys3643Arg)
c.10925A>G (p.Lys3642Arg)
c.10910A>G (p.Lys3637Arg)
c.10949A>G (p.Lys3650Arg)
c.10868A>G (p.Lys3623Arg)
c.10823A>G (p.Lys3608Arg)
c.10853A>G (p.Lys3618Arg)
c.10829A>G (p.Lys3610Arg)
c.5477A>G (p.Lys1826Arg)
c.5438A>G (p.Lys1813Arg)
c.10952A>G (p.Lys3651Arg)
c.10913A>G (p.Lys3638Arg)
c.10898A>G (p.Lys3633Arg)
c.10859A>G (p.Lys3620Arg)
c.10811A>G (p.Lys3604Arg)
c.10580A>G (p.Lys3527Arg)
c.6617A>G (p.Lys2206Arg)
c.5501A>G (p.Lys1834Arg)
c.10715A>G (p.Lys3572Arg)
 gnomAD v4
7g.92099790A>TCA368158786AKAP9,CYP51A1c.1352-14188T>A (n.1352-14188T>A)
c.10817A>T (p.Lys3606Met)
c.10889A>T (p.Lys3630Met)
c.3809A>T (p.Lys1270Met)
n.165A>T
c.305A>T (p.Lys102Met)
n.2895A>T
c.5462A>T (p.Lys1821Met)
c.*1697A>T (n.*1697A>T)
c.10793A>T (p.Lys3598Met)
n.11015A>T
c.10763A>T (p.Lys3588Met)
c.10559A>T (p.Lys3520Met)
n.12487A>T
c.10640A>T (p.Lys3547Met)
c.10724A>T (p.Lys3575Met)
c.4456A>T (n.4456A>T)
c.10676A>T (p.Lys3559Met)
c.10856A>T (p.Lys3619Met)
c.4577A>T (n.4577A>T)
c.10826A>T (p.Lys3609Met)
c.4355A>T (p.Lys1452Met)
n.2567A>T
n.617A>T
c.10964A>T (p.Lys3655Met)
c.10988A>T (p.Lys3663Met)
c.10928A>T (p.Lys3643Met)
c.10925A>T (p.Lys3642Met)
c.10910A>T (p.Lys3637Met)
c.10949A>T (p.Lys3650Met)
c.10868A>T (p.Lys3623Met)
c.10823A>T (p.Lys3608Met)
c.10853A>T (p.Lys3618Met)
c.10829A>T (p.Lys3610Met)
c.5477A>T (p.Lys1826Met)
c.5438A>T (p.Lys1813Met)
c.10952A>T (p.Lys3651Met)
c.10913A>T (p.Lys3638Met)
c.10898A>T (p.Lys3633Met)
c.10859A>T (p.Lys3620Met)
c.10811A>T (p.Lys3604Met)
c.10580A>T (p.Lys3527Met)
c.6617A>T (p.Lys2206Met)
c.5501A>T (p.Lys1834Met)
c.10715A>T (p.Lys3572Met)
7g.92099791G>ACA456454195AKAP9,CYP51A1c.1352-14189C>T (n.1352-14189C>T)
c.10818G>A (p.Lys3606=)
c.10890G>A (p.Lys3630=)
c.3810G>A (p.Lys1270=)
n.166G>A
c.306G>A (p.Lys102=)
n.2896G>A
c.5463G>A (p.Lys1821=)
c.*1698G>A (n.*1698G>A)
c.10794G>A (p.Lys3598=)
n.11016G>A
c.10764G>A (p.Lys3588=)
c.10560G>A (p.Lys3520=)
n.12488G>A
c.10641G>A (p.Lys3547=)
c.10725G>A (p.Lys3575=)
c.4457G>A (n.4457G>A)
c.10677G>A (p.Lys3559=)
c.10857G>A (p.Lys3619=)
c.4578G>A (n.4578G>A)
c.10827G>A (p.Lys3609=)
c.4356G>A (p.Lys1452=)
n.2568G>A
n.618G>A
c.10965G>A (p.Lys3655=)
c.10989G>A (p.Lys3663=)
c.10929G>A (p.Lys3643=)
c.10926G>A (p.Lys3642=)
c.10911G>A (p.Lys3637=)
c.10950G>A (p.Lys3650=)
c.10869G>A (p.Lys3623=)
c.10824G>A (p.Lys3608=)
c.10854G>A (p.Lys3618=)
c.10830G>A (p.Lys3610=)
c.5478G>A (p.Lys1826=)
c.5439G>A (p.Lys1813=)
c.10953G>A (p.Lys3651=)
c.10914G>A (p.Lys3638=)
c.10899G>A (p.Lys3633=)
c.10860G>A (p.Lys3620=)
c.10812G>A (p.Lys3604=)
c.10581G>A (p.Lys3527=)
c.6618G>A (p.Lys2206=)
c.5502G>A (p.Lys1834=)
c.10716G>A (p.Lys3572=)
7g.92099791G>CCA368158787AKAP9,CYP51A1c.1352-14189C>G (n.1352-14189C>G)
c.10818G>C (p.Lys3606Asn)
c.10890G>C (p.Lys3630Asn)
c.3810G>C (p.Lys1270Asn)
n.166G>C
c.306G>C (p.Lys102Asn)
n.2896G>C
c.5463G>C (p.Lys1821Asn)
c.*1698G>C (n.*1698G>C)
c.10794G>C (p.Lys3598Asn)
n.11016G>C
c.10764G>C (p.Lys3588Asn)
c.10560G>C (p.Lys3520Asn)
n.12488G>C
c.10641G>C (p.Lys3547Asn)
c.10725G>C (p.Lys3575Asn)
c.4457G>C (n.4457G>C)
c.10677G>C (p.Lys3559Asn)
c.10857G>C (p.Lys3619Asn)
c.4578G>C (n.4578G>C)
c.10827G>C (p.Lys3609Asn)
c.4356G>C (p.Lys1452Asn)
n.2568G>C
n.618G>C
c.10965G>C (p.Lys3655Asn)
c.10989G>C (p.Lys3663Asn)
c.10929G>C (p.Lys3643Asn)
c.10926G>C (p.Lys3642Asn)
c.10911G>C (p.Lys3637Asn)
c.10950G>C (p.Lys3650Asn)
c.10869G>C (p.Lys3623Asn)
c.10824G>C (p.Lys3608Asn)
c.10854G>C (p.Lys3618Asn)
c.10830G>C (p.Lys3610Asn)
c.5478G>C (p.Lys1826Asn)
c.5439G>C (p.Lys1813Asn)
c.10953G>C (p.Lys3651Asn)
c.10914G>C (p.Lys3638Asn)
c.10899G>C (p.Lys3633Asn)
c.10860G>C (p.Lys3620Asn)
c.10812G>C (p.Lys3604Asn)
c.10581G>C (p.Lys3527Asn)
c.6618G>C (p.Lys2206Asn)
c.5502G>C (p.Lys1834Asn)
c.10716G>C (p.Lys3572Asn)
 gnomAD v4
7g.92099791G=CA1725766419AKAP9,CYP51A1c.1352-14189C= (n.1352-14189C=)
c.10818G= (p.Lys3606=)
c.10890G= (p.Lys3630=)
c.3810G= (p.Lys1270=)
n.166G=
c.306G= (p.Lys102=)
n.2896G=
c.5463G= (p.Lys1821=)
c.*1698G= (n.*1698G=)
c.10794G= (p.Lys3598=)
n.11016G=
c.10764G= (p.Lys3588=)
c.10560G= (p.Lys3520=)
n.12488G=
c.10641G= (p.Lys3547=)
c.10725G= (p.Lys3575=)
c.4457G= (n.4457G=)
c.10677G= (p.Lys3559=)
c.10857G= (p.Lys3619=)
c.4578G= (n.4578G=)
c.10827G= (p.Lys3609=)
c.4356G= (p.Lys1452=)
n.2568G=
n.618G=
c.10965G= (p.Lys3655=)
c.10989G= (p.Lys3663=)
c.10929G= (p.Lys3643=)
c.10926G= (p.Lys3642=)
c.10911G= (p.Lys3637=)
c.10950G= (p.Lys3650=)
c.10869G= (p.Lys3623=)
c.10824G= (p.Lys3608=)
c.10854G= (p.Lys3618=)
c.10830G= (p.Lys3610=)
c.5478G= (p.Lys1826=)
c.5439G= (p.Lys1813=)
c.10953G= (p.Lys3651=)
c.10914G= (p.Lys3638=)
c.10899G= (p.Lys3633=)
c.10860G= (p.Lys3620=)
c.10812G= (p.Lys3604=)
c.10581G= (p.Lys3527=)
c.6618G= (p.Lys2206=)
c.5502G= (p.Lys1834=)
c.10716G= (p.Lys3572=)
7g.92099791G>TCA161898772AKAP9,CYP51A1c.1352-14189C>A (n.1352-14189C>A)
c.10818G>T (p.Lys3606Asn)
c.10890G>T (p.Lys3630Asn)
c.3810G>T (p.Lys1270Asn)
n.166G>T
c.306G>T (p.Lys102Asn)
n.2896G>T
c.5463G>T (p.Lys1821Asn)
c.*1698G>T (n.*1698G>T)
c.10794G>T (p.Lys3598Asn)
n.11016G>T
c.10764G>T (p.Lys3588Asn)
c.10560G>T (p.Lys3520Asn)
n.12488G>T
c.10641G>T (p.Lys3547Asn)
c.10725G>T (p.Lys3575Asn)
c.4457G>T (n.4457G>T)
c.10677G>T (p.Lys3559Asn)
c.10857G>T (p.Lys3619Asn)
c.4578G>T (n.4578G>T)
c.10827G>T (p.Lys3609Asn)
c.4356G>T (p.Lys1452Asn)
n.2568G>T
n.618G>T
c.10965G>T (p.Lys3655Asn)
c.10989G>T (p.Lys3663Asn)
c.10929G>T (p.Lys3643Asn)
c.10926G>T (p.Lys3642Asn)
c.10911G>T (p.Lys3637Asn)
c.10950G>T (p.Lys3650Asn)
c.10869G>T (p.Lys3623Asn)
c.10824G>T (p.Lys3608Asn)
c.10854G>T (p.Lys3618Asn)
c.10830G>T (p.Lys3610Asn)
c.5478G>T (p.Lys1826Asn)
c.5439G>T (p.Lys1813Asn)
c.10953G>T (p.Lys3651Asn)
c.10914G>T (p.Lys3638Asn)
c.10899G>T (p.Lys3633Asn)
c.10860G>T (p.Lys3620Asn)
c.10812G>T (p.Lys3604Asn)
c.10581G>T (p.Lys3527Asn)
c.6618G>T (p.Lys2206Asn)
c.5502G>T (p.Lys1834Asn)
c.10716G>T (p.Lys3572Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.92099792A>CCA368158788AKAP9,CYP51A1c.1352-14190T>G (n.1352-14190T>G)
c.10819A>C (p.Asn3607His)
c.10891A>C (p.Asn3631His)
c.3811A>C (p.Asn1271His)
n.167A>C
c.307A>C (p.Asn103His)
n.2897A>C
c.5464A>C (p.Asn1822His)
c.*1699A>C (n.*1699A>C)
c.10795A>C (p.Asn3599His)
n.11017A>C
c.10765A>C (p.Asn3589His)
c.10561A>C (p.Asn3521His)
n.12489A>C
c.10642A>C (p.Asn3548His)
c.10726A>C (p.Asn3576His)
c.4458A>C (n.4458A>C)
c.10678A>C (p.Asn3560His)
c.10858A>C (p.Asn3620His)
c.4579A>C (n.4579A>C)
c.10828A>C (p.Asn3610His)
c.4357A>C (p.Asn1453His)
n.2569A>C
n.619A>C
c.10966A>C (p.Asn3656His)
c.10990A>C (p.Asn3664His)
c.10930A>C (p.Asn3644His)
c.10927A>C (p.Asn3643His)
c.10912A>C (p.Asn3638His)
c.10951A>C (p.Asn3651His)
c.10870A>C (p.Asn3624His)
c.10825A>C (p.Asn3609His)
c.10855A>C (p.Asn3619His)
c.10831A>C (p.Asn3611His)
c.5479A>C (p.Asn1827His)
c.5440A>C (p.Asn1814His)
c.10954A>C (p.Asn3652His)
c.10915A>C (p.Asn3639His)
c.10900A>C (p.Asn3634His)
c.10861A>C (p.Asn3621His)
c.10813A>C (p.Asn3605His)
c.10582A>C (p.Asn3528His)
c.6619A>C (p.Asn2207His)
c.5503A>C (p.Asn1835His)
c.10717A>C (p.Asn3573His)
7g.92099792A>GCA368158789AKAP9,CYP51A1c.1352-14190T>C (n.1352-14190T>C)
c.10819A>G (p.Asn3607Asp)
c.10891A>G (p.Asn3631Asp)
c.3811A>G (p.Asn1271Asp)
n.167A>G
c.307A>G (p.Asn103Asp)
n.2897A>G
c.5464A>G (p.Asn1822Asp)
c.*1699A>G (n.*1699A>G)
c.10795A>G (p.Asn3599Asp)
n.11017A>G
c.10765A>G (p.Asn3589Asp)
c.10561A>G (p.Asn3521Asp)
n.12489A>G
c.10642A>G (p.Asn3548Asp)
c.10726A>G (p.Asn3576Asp)
c.4458A>G (n.4458A>G)
c.10678A>G (p.Asn3560Asp)
c.10858A>G (p.Asn3620Asp)
c.4579A>G (n.4579A>G)
c.10828A>G (p.Asn3610Asp)
c.4357A>G (p.Asn1453Asp)
n.2569A>G
n.619A>G
c.10966A>G (p.Asn3656Asp)
c.10990A>G (p.Asn3664Asp)
c.10930A>G (p.Asn3644Asp)
c.10927A>G (p.Asn3643Asp)
c.10912A>G (p.Asn3638Asp)
c.10951A>G (p.Asn3651Asp)
c.10870A>G (p.Asn3624Asp)
c.10825A>G (p.Asn3609Asp)
c.10855A>G (p.Asn3619Asp)
c.10831A>G (p.Asn3611Asp)
c.5479A>G (p.Asn1827Asp)
c.5440A>G (p.Asn1814Asp)
c.10954A>G (p.Asn3652Asp)
c.10915A>G (p.Asn3639Asp)
c.10900A>G (p.Asn3634Asp)
c.10861A>G (p.Asn3621Asp)
c.10813A>G (p.Asn3605Asp)
c.10582A>G (p.Asn3528Asp)
c.6619A>G (p.Asn2207Asp)
c.5503A>G (p.Asn1835Asp)
c.10717A>G (p.Asn3573Asp)
7g.92099792A>TCA368158791AKAP9,CYP51A1c.1352-14190T>A (n.1352-14190T>A)
c.10819A>T (p.Asn3607Tyr)
c.10891A>T (p.Asn3631Tyr)
c.3811A>T (p.Asn1271Tyr)
n.167A>T
c.307A>T (p.Asn103Tyr)
n.2897A>T
c.5464A>T (p.Asn1822Tyr)
c.*1699A>T (n.*1699A>T)
c.10795A>T (p.Asn3599Tyr)
n.11017A>T
c.10765A>T (p.Asn3589Tyr)
c.10561A>T (p.Asn3521Tyr)
n.12489A>T
c.10642A>T (p.Asn3548Tyr)
c.10726A>T (p.Asn3576Tyr)
c.4458A>T (n.4458A>T)
c.10678A>T (p.Asn3560Tyr)
c.10858A>T (p.Asn3620Tyr)
c.4579A>T (n.4579A>T)
c.10828A>T (p.Asn3610Tyr)
c.4357A>T (p.Asn1453Tyr)
n.2569A>T
n.619A>T
c.10966A>T (p.Asn3656Tyr)
c.10990A>T (p.Asn3664Tyr)
c.10930A>T (p.Asn3644Tyr)
c.10927A>T (p.Asn3643Tyr)
c.10912A>T (p.Asn3638Tyr)
c.10951A>T (p.Asn3651Tyr)
c.10870A>T (p.Asn3624Tyr)
c.10825A>T (p.Asn3609Tyr)
c.10855A>T (p.Asn3619Tyr)
c.10831A>T (p.Asn3611Tyr)
c.5479A>T (p.Asn1827Tyr)
c.5440A>T (p.Asn1814Tyr)
c.10954A>T (p.Asn3652Tyr)
c.10915A>T (p.Asn3639Tyr)
c.10900A>T (p.Asn3634Tyr)
c.10861A>T (p.Asn3621Tyr)
c.10813A>T (p.Asn3605Tyr)
c.10582A>T (p.Asn3528Tyr)
c.6619A>T (p.Asn2207Tyr)
c.5503A>T (p.Asn1835Tyr)
c.10717A>T (p.Asn3573Tyr)
7g.92099793A>CCA368158792AKAP9,CYP51A1c.1352-14191T>G (n.1352-14191T>G)
c.10820A>C (p.Asn3607Thr)
c.10892A>C (p.Asn3631Thr)
c.3812A>C (p.Asn1271Thr)
n.168A>C
c.308A>C (p.Asn103Thr)
n.2898A>C
c.5465A>C (p.Asn1822Thr)
c.*1700A>C (n.*1700A>C)
c.10796A>C (p.Asn3599Thr)
n.11018A>C
c.10766A>C (p.Asn3589Thr)
c.10562A>C (p.Asn3521Thr)
n.12490A>C
c.10643A>C (p.Asn3548Thr)
c.10727A>C (p.Asn3576Thr)
c.4459A>C (n.4459A>C)
c.10679A>C (p.Asn3560Thr)
c.10859A>C (p.Asn3620Thr)
c.4580A>C (n.4580A>C)
c.10829A>C (p.Asn3610Thr)
c.4358A>C (p.Asn1453Thr)
n.2570A>C
n.620A>C
c.10967A>C (p.Asn3656Thr)
c.10991A>C (p.Asn3664Thr)
c.10931A>C (p.Asn3644Thr)
c.10928A>C (p.Asn3643Thr)
c.10913A>C (p.Asn3638Thr)
c.10952A>C (p.Asn3651Thr)
c.10871A>C (p.Asn3624Thr)
c.10826A>C (p.Asn3609Thr)
c.10856A>C (p.Asn3619Thr)
c.10832A>C (p.Asn3611Thr)
c.5480A>C (p.Asn1827Thr)
c.5441A>C (p.Asn1814Thr)
c.10955A>C (p.Asn3652Thr)
c.10916A>C (p.Asn3639Thr)
c.10901A>C (p.Asn3634Thr)
c.10862A>C (p.Asn3621Thr)
c.10814A>C (p.Asn3605Thr)
c.10583A>C (p.Asn3528Thr)
c.6620A>C (p.Asn2207Thr)
c.5504A>C (p.Asn1835Thr)
c.10718A>C (p.Asn3573Thr)
7g.92099793A>GCA368158794AKAP9,CYP51A1c.1352-14191T>C (n.1352-14191T>C)
c.10820A>G (p.Asn3607Ser)
c.10892A>G (p.Asn3631Ser)
c.3812A>G (p.Asn1271Ser)
n.168A>G
c.308A>G (p.Asn103Ser)
n.2898A>G
c.5465A>G (p.Asn1822Ser)
c.*1700A>G (n.*1700A>G)
c.10796A>G (p.Asn3599Ser)
n.11018A>G
c.10766A>G (p.Asn3589Ser)
c.10562A>G (p.Asn3521Ser)
n.12490A>G
c.10643A>G (p.Asn3548Ser)
c.10727A>G (p.Asn3576Ser)
c.4459A>G (n.4459A>G)
c.10679A>G (p.Asn3560Ser)
c.10859A>G (p.Asn3620Ser)
c.4580A>G (n.4580A>G)
c.10829A>G (p.Asn3610Ser)
c.4358A>G (p.Asn1453Ser)
n.2570A>G
n.620A>G
c.10967A>G (p.Asn3656Ser)
c.10991A>G (p.Asn3664Ser)
c.10931A>G (p.Asn3644Ser)
c.10928A>G (p.Asn3643Ser)
c.10913A>G (p.Asn3638Ser)
c.10952A>G (p.Asn3651Ser)
c.10871A>G (p.Asn3624Ser)
c.10826A>G (p.Asn3609Ser)
c.10856A>G (p.Asn3619Ser)
c.10832A>G (p.Asn3611Ser)
c.5480A>G (p.Asn1827Ser)
c.5441A>G (p.Asn1814Ser)
c.10955A>G (p.Asn3652Ser)
c.10916A>G (p.Asn3639Ser)
c.10901A>G (p.Asn3634Ser)
c.10862A>G (p.Asn3621Ser)
c.10814A>G (p.Asn3605Ser)
c.10583A>G (p.Asn3528Ser)
c.6620A>G (p.Asn2207Ser)
c.5504A>G (p.Asn1835Ser)
c.10718A>G (p.Asn3573Ser)
 gnomAD v4
7g.92099793A>TCA368158795AKAP9,CYP51A1c.1352-14191T>A (n.1352-14191T>A)
c.10820A>T (p.Asn3607Ile)
c.10892A>T (p.Asn3631Ile)
c.3812A>T (p.Asn1271Ile)
n.168A>T
c.308A>T (p.Asn103Ile)
n.2898A>T
c.5465A>T (p.Asn1822Ile)
c.*1700A>T (n.*1700A>T)
c.10796A>T (p.Asn3599Ile)
n.11018A>T
c.10766A>T (p.Asn3589Ile)
c.10562A>T (p.Asn3521Ile)
n.12490A>T
c.10643A>T (p.Asn3548Ile)
c.10727A>T (p.Asn3576Ile)
c.4459A>T (n.4459A>T)
c.10679A>T (p.Asn3560Ile)
c.10859A>T (p.Asn3620Ile)
c.4580A>T (n.4580A>T)
c.10829A>T (p.Asn3610Ile)
c.4358A>T (p.Asn1453Ile)
n.2570A>T
n.620A>T
c.10967A>T (p.Asn3656Ile)
c.10991A>T (p.Asn3664Ile)
c.10931A>T (p.Asn3644Ile)
c.10928A>T (p.Asn3643Ile)
c.10913A>T (p.Asn3638Ile)
c.10952A>T (p.Asn3651Ile)
c.10871A>T (p.Asn3624Ile)
c.10826A>T (p.Asn3609Ile)
c.10856A>T (p.Asn3619Ile)
c.10832A>T (p.Asn3611Ile)
c.5480A>T (p.Asn1827Ile)
c.5441A>T (p.Asn1814Ile)
c.10955A>T (p.Asn3652Ile)
c.10916A>T (p.Asn3639Ile)
c.10901A>T (p.Asn3634Ile)
c.10862A>T (p.Asn3621Ile)
c.10814A>T (p.Asn3605Ile)
c.10583A>T (p.Asn3528Ile)
c.6620A>T (p.Asn2207Ile)
c.5504A>T (p.Asn1835Ile)
c.10718A>T (p.Asn3573Ile)
7g.92099794T>ACA368158796AKAP9,CYP51A1c.1352-14192A>T (n.1352-14192A>T)
c.10821T>A (p.Asn3607Lys)
c.10893T>A (p.Asn3631Lys)
c.3813T>A (p.Asn1271Lys)
n.169T>A
c.309T>A (p.Asn103Lys)
n.2899T>A
c.5466T>A (p.Asn1822Lys)
c.*1701T>A (n.*1701T>A)
c.10797T>A (p.Asn3599Lys)
n.11019T>A
c.10767T>A (p.Asn3589Lys)
c.10563T>A (p.Asn3521Lys)
n.12491T>A
c.10644T>A (p.Asn3548Lys)
c.10728T>A (p.Asn3576Lys)
c.4460T>A (n.4460T>A)
c.10680T>A (p.Asn3560Lys)
c.10860T>A (p.Asn3620Lys)
c.4581T>A (n.4581T>A)
c.10830T>A (p.Asn3610Lys)
c.4359T>A (p.Asn1453Lys)
n.2571T>A
n.621T>A
c.10968T>A (p.Asn3656Lys)
c.10992T>A (p.Asn3664Lys)
c.10932T>A (p.Asn3644Lys)
c.10929T>A (p.Asn3643Lys)
c.10914T>A (p.Asn3638Lys)
c.10953T>A (p.Asn3651Lys)
c.10872T>A (p.Asn3624Lys)
c.10827T>A (p.Asn3609Lys)
c.10857T>A (p.Asn3619Lys)
c.10833T>A (p.Asn3611Lys)
c.5481T>A (p.Asn1827Lys)
c.5442T>A (p.Asn1814Lys)
c.10956T>A (p.Asn3652Lys)
c.10917T>A (p.Asn3639Lys)
c.10902T>A (p.Asn3634Lys)
c.10863T>A (p.Asn3621Lys)
c.10815T>A (p.Asn3605Lys)
c.10584T>A (p.Asn3528Lys)
c.6621T>A (p.Asn2207Lys)
c.5505T>A (p.Asn1835Lys)
c.10719T>A (p.Asn3573Lys)
7g.92099794T>CCA456454198AKAP9,CYP51A1c.1352-14192A>G (n.1352-14192A>G)
c.10821T>C (p.Asn3607=)
c.10893T>C (p.Asn3631=)
c.3813T>C (p.Asn1271=)
n.169T>C
c.309T>C (p.Asn103=)
n.2899T>C
c.5466T>C (p.Asn1822=)
c.*1701T>C (n.*1701T>C)
c.10797T>C (p.Asn3599=)
n.11019T>C
c.10767T>C (p.Asn3589=)
c.10563T>C (p.Asn3521=)
n.12491T>C
c.10644T>C (p.Asn3548=)
c.10728T>C (p.Asn3576=)
c.4460T>C (n.4460T>C)
c.10680T>C (p.Asn3560=)
c.10860T>C (p.Asn3620=)
c.4581T>C (n.4581T>C)
c.10830T>C (p.Asn3610=)
c.4359T>C (p.Asn1453=)
n.2571T>C
n.621T>C
c.10968T>C (p.Asn3656=)
c.10992T>C (p.Asn3664=)
c.10932T>C (p.Asn3644=)
c.10929T>C (p.Asn3643=)
c.10914T>C (p.Asn3638=)
c.10953T>C (p.Asn3651=)
c.10872T>C (p.Asn3624=)
c.10827T>C (p.Asn3609=)
c.10857T>C (p.Asn3619=)
c.10833T>C (p.Asn3611=)
c.5481T>C (p.Asn1827=)
c.5442T>C (p.Asn1814=)
c.10956T>C (p.Asn3652=)
c.10917T>C (p.Asn3639=)
c.10902T>C (p.Asn3634=)
c.10863T>C (p.Asn3621=)
c.10815T>C (p.Asn3605=)
c.10584T>C (p.Asn3528=)
c.6621T>C (p.Asn2207=)
c.5505T>C (p.Asn1835=)
c.10719T>C (p.Asn3573=)
7g.92099794T>GCA368158797AKAP9,CYP51A1c.1352-14192A>C (n.1352-14192A>C)
c.10821T>G (p.Asn3607Lys)
c.10893T>G (p.Asn3631Lys)
c.3813T>G (p.Asn1271Lys)
n.169T>G
c.309T>G (p.Asn103Lys)
n.2899T>G
c.5466T>G (p.Asn1822Lys)
c.*1701T>G (n.*1701T>G)
c.10797T>G (p.Asn3599Lys)
n.11019T>G
c.10767T>G (p.Asn3589Lys)
c.10563T>G (p.Asn3521Lys)
n.12491T>G
c.10644T>G (p.Asn3548Lys)
c.10728T>G (p.Asn3576Lys)
c.4460T>G (n.4460T>G)
c.10680T>G (p.Asn3560Lys)
c.10860T>G (p.Asn3620Lys)
c.4581T>G (n.4581T>G)
c.10830T>G (p.Asn3610Lys)
c.4359T>G (p.Asn1453Lys)
n.2571T>G
n.621T>G
c.10968T>G (p.Asn3656Lys)
c.10992T>G (p.Asn3664Lys)
c.10932T>G (p.Asn3644Lys)
c.10929T>G (p.Asn3643Lys)
c.10914T>G (p.Asn3638Lys)
c.10953T>G (p.Asn3651Lys)
c.10872T>G (p.Asn3624Lys)
c.10827T>G (p.Asn3609Lys)
c.10857T>G (p.Asn3619Lys)
c.10833T>G (p.Asn3611Lys)
c.5481T>G (p.Asn1827Lys)
c.5442T>G (p.Asn1814Lys)
c.10956T>G (p.Asn3652Lys)
c.10917T>G (p.Asn3639Lys)
c.10902T>G (p.Asn3634Lys)
c.10863T>G (p.Asn3621Lys)
c.10815T>G (p.Asn3605Lys)
c.10584T>G (p.Asn3528Lys)
c.6621T>G (p.Asn2207Lys)
c.5505T>G (p.Asn1835Lys)
c.10719T>G (p.Asn3573Lys)
7g.92099795G>ACA368158798AKAP9,CYP51A1c.1352-14193C>T (n.1352-14193C>T)
c.10822G>A (p.Asp3608Asn)
c.10894G>A (p.Asp3632Asn)
c.3814G>A (p.Asp1272Asn)
n.170G>A
c.310G>A (p.Asp104Asn)
n.2900G>A
c.5467G>A (p.Asp1823Asn)
c.*1702G>A (n.*1702G>A)
c.10798G>A (p.Asp3600Asn)
n.11020G>A
c.10768G>A (p.Asp3590Asn)
c.10564G>A (p.Asp3522Asn)
n.12492G>A
c.10645G>A (p.Asp3549Asn)
c.10729G>A (p.Asp3577Asn)
c.4461G>A (n.4461G>A)
c.10681G>A (p.Asp3561Asn)
c.10861G>A (p.Asp3621Asn)
c.4582G>A (n.4582G>A)
c.10831G>A (p.Asp3611Asn)
c.4360G>A (p.Asp1454Asn)
n.2572G>A
n.622G>A
c.10969G>A (p.Asp3657Asn)
c.10993G>A (p.Asp3665Asn)
c.10933G>A (p.Asp3645Asn)
c.10930G>A (p.Asp3644Asn)
c.10915G>A (p.Asp3639Asn)
c.10954G>A (p.Asp3652Asn)
c.10873G>A (p.Asp3625Asn)
c.10828G>A (p.Asp3610Asn)
c.10858G>A (p.Asp3620Asn)
c.10834G>A (p.Asp3612Asn)
c.5482G>A (p.Asp1828Asn)
c.5443G>A (p.Asp1815Asn)
c.10957G>A (p.Asp3653Asn)
c.10918G>A (p.Asp3640Asn)
c.10903G>A (p.Asp3635Asn)
c.10864G>A (p.Asp3622Asn)
c.10816G>A (p.Asp3606Asn)
c.10585G>A (p.Asp3529Asn)
c.6622G>A (p.Asp2208Asn)
c.5506G>A (p.Asp1836Asn)
c.10720G>A (p.Asp3574Asn)
7g.92099795G>CCA368158800AKAP9,CYP51A1c.1352-14193C>G (n.1352-14193C>G)
c.10822G>C (p.Asp3608His)
c.10894G>C (p.Asp3632His)
c.3814G>C (p.Asp1272His)
n.170G>C
c.310G>C (p.Asp104His)
n.2900G>C
c.5467G>C (p.Asp1823His)
c.*1702G>C (n.*1702G>C)
c.10798G>C (p.Asp3600His)
n.11020G>C
c.10768G>C (p.Asp3590His)
c.10564G>C (p.Asp3522His)
n.12492G>C
c.10645G>C (p.Asp3549His)
c.10729G>C (p.Asp3577His)
c.4461G>C (n.4461G>C)
c.10681G>C (p.Asp3561His)
c.10861G>C (p.Asp3621His)
c.4582G>C (n.4582G>C)
c.10831G>C (p.Asp3611His)
c.4360G>C (p.Asp1454His)
n.2572G>C
n.622G>C
c.10969G>C (p.Asp3657His)
c.10993G>C (p.Asp3665His)
c.10933G>C (p.Asp3645His)
c.10930G>C (p.Asp3644His)
c.10915G>C (p.Asp3639His)
c.10954G>C (p.Asp3652His)
c.10873G>C (p.Asp3625His)
c.10828G>C (p.Asp3610His)
c.10858G>C (p.Asp3620His)
c.10834G>C (p.Asp3612His)
c.5482G>C (p.Asp1828His)
c.5443G>C (p.Asp1815His)
c.10957G>C (p.Asp3653His)
c.10918G>C (p.Asp3640His)
c.10903G>C (p.Asp3635His)
c.10864G>C (p.Asp3622His)
c.10816G>C (p.Asp3606His)
c.10585G>C (p.Asp3529His)
c.6622G>C (p.Asp2208His)
c.5506G>C (p.Asp1836His)
c.10720G>C (p.Asp3574His)
7g.92099795G>TCA368158801AKAP9,CYP51A1c.1352-14193C>A (n.1352-14193C>A)
c.10822G>T (p.Asp3608Tyr)
c.10894G>T (p.Asp3632Tyr)
c.3814G>T (p.Asp1272Tyr)
n.170G>T
c.310G>T (p.Asp104Tyr)
n.2900G>T
c.5467G>T (p.Asp1823Tyr)
c.*1702G>T (n.*1702G>T)
c.10798G>T (p.Asp3600Tyr)
n.11020G>T
c.10768G>T (p.Asp3590Tyr)
c.10564G>T (p.Asp3522Tyr)
n.12492G>T
c.10645G>T (p.Asp3549Tyr)
c.10729G>T (p.Asp3577Tyr)
c.4461G>T (n.4461G>T)
c.10681G>T (p.Asp3561Tyr)
c.10861G>T (p.Asp3621Tyr)
c.4582G>T (n.4582G>T)
c.10831G>T (p.Asp3611Tyr)
c.4360G>T (p.Asp1454Tyr)
n.2572G>T
n.622G>T
c.10969G>T (p.Asp3657Tyr)
c.10993G>T (p.Asp3665Tyr)
c.10933G>T (p.Asp3645Tyr)
c.10930G>T (p.Asp3644Tyr)
c.10915G>T (p.Asp3639Tyr)
c.10954G>T (p.Asp3652Tyr)
c.10873G>T (p.Asp3625Tyr)
c.10828G>T (p.Asp3610Tyr)
c.10858G>T (p.Asp3620Tyr)
c.10834G>T (p.Asp3612Tyr)
c.5482G>T (p.Asp1828Tyr)
c.5443G>T (p.Asp1815Tyr)
c.10957G>T (p.Asp3653Tyr)
c.10918G>T (p.Asp3640Tyr)
c.10903G>T (p.Asp3635Tyr)
c.10864G>T (p.Asp3622Tyr)
c.10816G>T (p.Asp3606Tyr)
c.10585G>T (p.Asp3529Tyr)
c.6622G>T (p.Asp2208Tyr)
c.5506G>T (p.Asp1836Tyr)
c.10720G>T (p.Asp3574Tyr)
 gnomAD v4
7g.92099796A=CA1725766423AKAP9,CYP51A1c.1352-14194T= (n.1352-14194T=)
c.10823A= (p.Asp3608=)
c.10895A= (p.Asp3632=)
c.3815A= (p.Asp1272=)
n.171A=
c.311A= (p.Asp104=)
n.2901A=
c.5468A= (p.Asp1823=)
c.*1703A= (n.*1703A=)
c.10799A= (p.Asp3600=)
n.11021A=
c.10769A= (p.Asp3590=)
c.10565A= (p.Asp3522=)
n.12493A=
c.10646A= (p.Asp3549=)
c.10730A= (p.Asp3577=)
c.4462A= (n.4462A=)
c.10682A= (p.Asp3561=)
c.10862A= (p.Asp3621=)
c.4583A= (n.4583A=)
c.10832A= (p.Asp3611=)
c.4361A= (p.Asp1454=)
n.2573A=
n.623A=
c.10970A= (p.Asp3657=)
c.10994A= (p.Asp3665=)
c.10934A= (p.Asp3645=)
c.10931A= (p.Asp3644=)
c.10916A= (p.Asp3639=)
c.10955A= (p.Asp3652=)
c.10874A= (p.Asp3625=)
c.10829A= (p.Asp3610=)
c.10859A= (p.Asp3620=)
c.10835A= (p.Asp3612=)
c.5483A= (p.Asp1828=)
c.5444A= (p.Asp1815=)
c.10958A= (p.Asp3653=)
c.10919A= (p.Asp3640=)
c.10904A= (p.Asp3635=)
c.10865A= (p.Asp3622=)
c.10817A= (p.Asp3606=)
c.10586A= (p.Asp3529=)
c.6623A= (p.Asp2208=)
c.5507A= (p.Asp1836=)
c.10721A= (p.Asp3574=)
7g.92099796A>CCA161898776AKAP9,CYP51A1c.1352-14194T>G (n.1352-14194T>G)
c.10823A>C (p.Asp3608Ala)
c.10895A>C (p.Asp3632Ala)
c.3815A>C (p.Asp1272Ala)
n.171A>C
c.311A>C (p.Asp104Ala)
n.2901A>C
c.5468A>C (p.Asp1823Ala)
c.*1703A>C (n.*1703A>C)
c.10799A>C (p.Asp3600Ala)
n.11021A>C
c.10769A>C (p.Asp3590Ala)
c.10565A>C (p.Asp3522Ala)
n.12493A>C
c.10646A>C (p.Asp3549Ala)
c.10730A>C (p.Asp3577Ala)
c.4462A>C (n.4462A>C)
c.10682A>C (p.Asp3561Ala)
c.10862A>C (p.Asp3621Ala)
c.4583A>C (n.4583A>C)
c.10832A>C (p.Asp3611Ala)
c.4361A>C (p.Asp1454Ala)
n.2573A>C
n.623A>C
c.10970A>C (p.Asp3657Ala)
c.10994A>C (p.Asp3665Ala)
c.10934A>C (p.Asp3645Ala)
c.10931A>C (p.Asp3644Ala)
c.10916A>C (p.Asp3639Ala)
c.10955A>C (p.Asp3652Ala)
c.10874A>C (p.Asp3625Ala)
c.10829A>C (p.Asp3610Ala)
c.10859A>C (p.Asp3620Ala)
c.10835A>C (p.Asp3612Ala)
c.5483A>C (p.Asp1828Ala)
c.5444A>C (p.Asp1815Ala)
c.10958A>C (p.Asp3653Ala)
c.10919A>C (p.Asp3640Ala)
c.10904A>C (p.Asp3635Ala)
c.10865A>C (p.Asp3622Ala)
c.10817A>C (p.Asp3606Ala)
c.10586A>C (p.Asp3529Ala)
c.6623A>C (p.Asp2208Ala)
c.5507A>C (p.Asp1836Ala)
c.10721A>C (p.Asp3574Ala)
 dbSNP
7g.92099796A>GCA368158803AKAP9,CYP51A1c.1352-14194T>C (n.1352-14194T>C)
c.10823A>G (p.Asp3608Gly)
c.10895A>G (p.Asp3632Gly)
c.3815A>G (p.Asp1272Gly)
n.171A>G
c.311A>G (p.Asp104Gly)
n.2901A>G
c.5468A>G (p.Asp1823Gly)
c.*1703A>G (n.*1703A>G)
c.10799A>G (p.Asp3600Gly)
n.11021A>G
c.10769A>G (p.Asp3590Gly)
c.10565A>G (p.Asp3522Gly)
n.12493A>G
c.10646A>G (p.Asp3549Gly)
c.10730A>G (p.Asp3577Gly)
c.4462A>G (n.4462A>G)
c.10682A>G (p.Asp3561Gly)
c.10862A>G (p.Asp3621Gly)
c.4583A>G (n.4583A>G)
c.10832A>G (p.Asp3611Gly)
c.4361A>G (p.Asp1454Gly)
n.2573A>G
n.623A>G
c.10970A>G (p.Asp3657Gly)
c.10994A>G (p.Asp3665Gly)
c.10934A>G (p.Asp3645Gly)
c.10931A>G (p.Asp3644Gly)
c.10916A>G (p.Asp3639Gly)
c.10955A>G (p.Asp3652Gly)
c.10874A>G (p.Asp3625Gly)
c.10829A>G (p.Asp3610Gly)
c.10859A>G (p.Asp3620Gly)
c.10835A>G (p.Asp3612Gly)
c.5483A>G (p.Asp1828Gly)
c.5444A>G (p.Asp1815Gly)
c.10958A>G (p.Asp3653Gly)
c.10919A>G (p.Asp3640Gly)
c.10904A>G (p.Asp3635Gly)
c.10865A>G (p.Asp3622Gly)
c.10817A>G (p.Asp3606Gly)
c.10586A>G (p.Asp3529Gly)
c.6623A>G (p.Asp2208Gly)
c.5507A>G (p.Asp1836Gly)
c.10721A>G (p.Asp3574Gly)
7g.92099796A>TCA368158804AKAP9,CYP51A1c.1352-14194T>A (n.1352-14194T>A)
c.10823A>T (p.Asp3608Val)
c.10895A>T (p.Asp3632Val)
c.3815A>T (p.Asp1272Val)
n.171A>T
c.311A>T (p.Asp104Val)
n.2901A>T
c.5468A>T (p.Asp1823Val)
c.*1703A>T (n.*1703A>T)
c.10799A>T (p.Asp3600Val)
n.11021A>T
c.10769A>T (p.Asp3590Val)
c.10565A>T (p.Asp3522Val)
n.12493A>T
c.10646A>T (p.Asp3549Val)
c.10730A>T (p.Asp3577Val)
c.4462A>T (n.4462A>T)
c.10682A>T (p.Asp3561Val)
c.10862A>T (p.Asp3621Val)
c.4583A>T (n.4583A>T)
c.10832A>T (p.Asp3611Val)
c.4361A>T (p.Asp1454Val)
n.2573A>T
n.623A>T
c.10970A>T (p.Asp3657Val)
c.10994A>T (p.Asp3665Val)
c.10934A>T (p.Asp3645Val)
c.10931A>T (p.Asp3644Val)
c.10916A>T (p.Asp3639Val)
c.10955A>T (p.Asp3652Val)
c.10874A>T (p.Asp3625Val)
c.10829A>T (p.Asp3610Val)
c.10859A>T (p.Asp3620Val)
c.10835A>T (p.Asp3612Val)
c.5483A>T (p.Asp1828Val)
c.5444A>T (p.Asp1815Val)
c.10958A>T (p.Asp3653Val)
c.10919A>T (p.Asp3640Val)
c.10904A>T (p.Asp3635Val)
c.10865A>T (p.Asp3622Val)
c.10817A>T (p.Asp3606Val)
c.10586A>T (p.Asp3529Val)
c.6623A>T (p.Asp2208Val)
c.5507A>T (p.Asp1836Val)
c.10721A>T (p.Asp3574Val)
 COSMIC COSMIC
7g.92099797C>ACA368158805AKAP9,CYP51A1c.1352-14195G>T (n.1352-14195G>T)
c.10824C>A (p.Asp3608Glu)
c.10896C>A (p.Asp3632Glu)
c.3816C>A (p.Asp1272Glu)
n.172C>A
c.312C>A (p.Asp104Glu)
n.2902C>A
c.5469C>A (p.Asp1823Glu)
c.*1704C>A (n.*1704C>A)
c.10800C>A (p.Asp3600Glu)
n.11022C>A
c.10770C>A (p.Asp3590Glu)
c.10566C>A (p.Asp3522Glu)
n.12494C>A
c.10647C>A (p.Asp3549Glu)
c.10731C>A (p.Asp3577Glu)
c.4463C>A (n.4463C>A)
c.10683C>A (p.Asp3561Glu)
c.10863C>A (p.Asp3621Glu)
c.4584C>A (n.4584C>A)
c.10833C>A (p.Asp3611Glu)
c.4362C>A (p.Asp1454Glu)
n.2574C>A
n.624C>A
c.10971C>A (p.Asp3657Glu)
c.10995C>A (p.Asp3665Glu)
c.10935C>A (p.Asp3645Glu)
c.10932C>A (p.Asp3644Glu)
c.10917C>A (p.Asp3639Glu)
c.10956C>A (p.Asp3652Glu)
c.10875C>A (p.Asp3625Glu)
c.10830C>A (p.Asp3610Glu)
c.10860C>A (p.Asp3620Glu)
c.10836C>A (p.Asp3612Glu)
c.5484C>A (p.Asp1828Glu)
c.5445C>A (p.Asp1815Glu)
c.10959C>A (p.Asp3653Glu)
c.10920C>A (p.Asp3640Glu)
c.10905C>A (p.Asp3635Glu)
c.10866C>A (p.Asp3622Glu)
c.10818C>A (p.Asp3606Glu)
c.10587C>A (p.Asp3529Glu)
c.6624C>A (p.Asp2208Glu)
c.5508C>A (p.Asp1836Glu)
c.10722C>A (p.Asp3574Glu)
7g.92099797C>GCA368158806AKAP9,CYP51A1c.1352-14195G>C (n.1352-14195G>C)
c.10824C>G (p.Asp3608Glu)
c.10896C>G (p.Asp3632Glu)
c.3816C>G (p.Asp1272Glu)
n.172C>G
c.312C>G (p.Asp104Glu)
n.2902C>G
c.5469C>G (p.Asp1823Glu)
c.*1704C>G (n.*1704C>G)
c.10800C>G (p.Asp3600Glu)
n.11022C>G
c.10770C>G (p.Asp3590Glu)
c.10566C>G (p.Asp3522Glu)
n.12494C>G
c.10647C>G (p.Asp3549Glu)
c.10731C>G (p.Asp3577Glu)
c.4463C>G (n.4463C>G)
c.10683C>G (p.Asp3561Glu)
c.10863C>G (p.Asp3621Glu)
c.4584C>G (n.4584C>G)
c.10833C>G (p.Asp3611Glu)
c.4362C>G (p.Asp1454Glu)
n.2574C>G
n.624C>G
c.10971C>G (p.Asp3657Glu)
c.10995C>G (p.Asp3665Glu)
c.10935C>G (p.Asp3645Glu)
c.10932C>G (p.Asp3644Glu)
c.10917C>G (p.Asp3639Glu)
c.10956C>G (p.Asp3652Glu)
c.10875C>G (p.Asp3625Glu)
c.10830C>G (p.Asp3610Glu)
c.10860C>G (p.Asp3620Glu)
c.10836C>G (p.Asp3612Glu)
c.5484C>G (p.Asp1828Glu)
c.5445C>G (p.Asp1815Glu)
c.10959C>G (p.Asp3653Glu)
c.10920C>G (p.Asp3640Glu)
c.10905C>G (p.Asp3635Glu)
c.10866C>G (p.Asp3622Glu)
c.10818C>G (p.Asp3606Glu)
c.10587C>G (p.Asp3529Glu)
c.6624C>G (p.Asp2208Glu)
c.5508C>G (p.Asp1836Glu)
c.10722C>G (p.Asp3574Glu)
 gnomAD v4
7g.92099797C>TCA456454201AKAP9,CYP51A1c.1352-14195G>A (n.1352-14195G>A)
c.10824C>T (p.Asp3608=)
c.10896C>T (p.Asp3632=)
c.3816C>T (p.Asp1272=)
n.172C>T
c.312C>T (p.Asp104=)
n.2902C>T
c.5469C>T (p.Asp1823=)
c.*1704C>T (n.*1704C>T)
c.10800C>T (p.Asp3600=)
n.11022C>T
c.10770C>T (p.Asp3590=)
c.10566C>T (p.Asp3522=)
n.12494C>T
c.10647C>T (p.Asp3549=)
c.10731C>T (p.Asp3577=)
c.4463C>T (n.4463C>T)
c.10683C>T (p.Asp3561=)
c.10863C>T (p.Asp3621=)
c.4584C>T (n.4584C>T)
c.10833C>T (p.Asp3611=)
c.4362C>T (p.Asp1454=)
n.2574C>T
n.624C>T
c.10971C>T (p.Asp3657=)
c.10995C>T (p.Asp3665=)
c.10935C>T (p.Asp3645=)
c.10932C>T (p.Asp3644=)
c.10917C>T (p.Asp3639=)
c.10956C>T (p.Asp3652=)
c.10875C>T (p.Asp3625=)
c.10830C>T (p.Asp3610=)
c.10860C>T (p.Asp3620=)
c.10836C>T (p.Asp3612=)
c.5484C>T (p.Asp1828=)
c.5445C>T (p.Asp1815=)
c.10959C>T (p.Asp3653=)
c.10920C>T (p.Asp3640=)
c.10905C>T (p.Asp3635=)
c.10866C>T (p.Asp3622=)
c.10818C>T (p.Asp3606=)
c.10587C>T (p.Asp3529=)
c.6624C>T (p.Asp2208=)
c.5508C>T (p.Asp1836=)
c.10722C>T (p.Asp3574=)
7g.92099798T>ACA368158808AKAP9,CYP51A1c.1352-14196A>T (n.1352-14196A>T)
c.10825T>A (p.Leu3609Ile)
c.10897T>A (p.Leu3633Ile)
c.3817T>A (p.Leu1273Ile)
n.173T>A
c.313T>A (p.Leu105Ile)
n.2903T>A
c.5470T>A (p.Leu1824Ile)
c.*1705T>A (n.*1705T>A)
c.10801T>A (p.Leu3601Ile)
n.11023T>A
c.10771T>A (p.Leu3591Ile)
c.10567T>A (p.Leu3523Ile)
n.12495T>A
c.10648T>A (p.Leu3550Ile)
c.10732T>A (p.Leu3578Ile)
c.4464T>A (n.4464T>A)
c.10684T>A (p.Leu3562Ile)
c.10864T>A (p.Leu3622Ile)
c.4585T>A (n.4585T>A)
c.10834T>A (p.Leu3612Ile)
c.4363T>A (p.Leu1455Ile)
n.2575T>A
n.625T>A
c.10972T>A (p.Leu3658Ile)
c.10996T>A (p.Leu3666Ile)
c.10936T>A (p.Leu3646Ile)
c.10933T>A (p.Leu3645Ile)
c.10918T>A (p.Leu3640Ile)
c.10957T>A (p.Leu3653Ile)
c.10876T>A (p.Leu3626Ile)
c.10831T>A (p.Leu3611Ile)
c.10861T>A (p.Leu3621Ile)
c.10837T>A (p.Leu3613Ile)
c.5485T>A (p.Leu1829Ile)
c.5446T>A (p.Leu1816Ile)
c.10960T>A (p.Leu3654Ile)
c.10921T>A (p.Leu3641Ile)
c.10906T>A (p.Leu3636Ile)
c.10867T>A (p.Leu3623Ile)
c.10819T>A (p.Leu3607Ile)
c.10588T>A (p.Leu3530Ile)
c.6625T>A (p.Leu2209Ile)
c.5509T>A (p.Leu1837Ile)
c.10723T>A (p.Leu3575Ile)
7g.92099798T>CCA456454202AKAP9,CYP51A1c.1352-14196A>G (n.1352-14196A>G)
c.10825T>C (p.Leu3609=)
c.10897T>C (p.Leu3633=)
c.3817T>C (p.Leu1273=)
n.173T>C
c.313T>C (p.Leu105=)
n.2903T>C
c.5470T>C (p.Leu1824=)
c.*1705T>C (n.*1705T>C)
c.10801T>C (p.Leu3601=)
n.11023T>C
c.10771T>C (p.Leu3591=)
c.10567T>C (p.Leu3523=)
n.12495T>C
c.10648T>C (p.Leu3550=)
c.10732T>C (p.Leu3578=)
c.4464T>C (n.4464T>C)
c.10684T>C (p.Leu3562=)
c.10864T>C (p.Leu3622=)
c.4585T>C (n.4585T>C)
c.10834T>C (p.Leu3612=)
c.4363T>C (p.Leu1455=)
n.2575T>C
n.625T>C
c.10972T>C (p.Leu3658=)
c.10996T>C (p.Leu3666=)
c.10936T>C (p.Leu3646=)
c.10933T>C (p.Leu3645=)
c.10918T>C (p.Leu3640=)
c.10957T>C (p.Leu3653=)
c.10876T>C (p.Leu3626=)
c.10831T>C (p.Leu3611=)
c.10861T>C (p.Leu3621=)
c.10837T>C (p.Leu3613=)
c.5485T>C (p.Leu1829=)
c.5446T>C (p.Leu1816=)
c.10960T>C (p.Leu3654=)
c.10921T>C (p.Leu3641=)
c.10906T>C (p.Leu3636=)
c.10867T>C (p.Leu3623=)
c.10819T>C (p.Leu3607=)
c.10588T>C (p.Leu3530=)
c.6625T>C (p.Leu2209=)
c.5509T>C (p.Leu1837=)
c.10723T>C (p.Leu3575=)
 dbSNP
7g.92099798T>GCA368158809AKAP9,CYP51A1c.1352-14196A>C (n.1352-14196A>C)
c.10825T>G (p.Leu3609Val)
c.10897T>G (p.Leu3633Val)
c.3817T>G (p.Leu1273Val)
n.173T>G
c.313T>G (p.Leu105Val)
n.2903T>G
c.5470T>G (p.Leu1824Val)
c.*1705T>G (n.*1705T>G)
c.10801T>G (p.Leu3601Val)
n.11023T>G
c.10771T>G (p.Leu3591Val)
c.10567T>G (p.Leu3523Val)
n.12495T>G
c.10648T>G (p.Leu3550Val)
c.10732T>G (p.Leu3578Val)
c.4464T>G (n.4464T>G)
c.10684T>G (p.Leu3562Val)
c.10864T>G (p.Leu3622Val)
c.4585T>G (n.4585T>G)
c.10834T>G (p.Leu3612Val)
c.4363T>G (p.Leu1455Val)
n.2575T>G
n.625T>G
c.10972T>G (p.Leu3658Val)
c.10996T>G (p.Leu3666Val)
c.10936T>G (p.Leu3646Val)
c.10933T>G (p.Leu3645Val)
c.10918T>G (p.Leu3640Val)
c.10957T>G (p.Leu3653Val)
c.10876T>G (p.Leu3626Val)
c.10831T>G (p.Leu3611Val)
c.10861T>G (p.Leu3621Val)
c.10837T>G (p.Leu3613Val)
c.5485T>G (p.Leu1829Val)
c.5446T>G (p.Leu1816Val)
c.10960T>G (p.Leu3654Val)
c.10921T>G (p.Leu3641Val)
c.10906T>G (p.Leu3636Val)
c.10867T>G (p.Leu3623Val)
c.10819T>G (p.Leu3607Val)
c.10588T>G (p.Leu3530Val)
c.6625T>G (p.Leu2209Val)
c.5509T>G (p.Leu1837Val)
c.10723T>G (p.Leu3575Val)
7g.92099798T=CA1725766426AKAP9,CYP51A1c.1352-14196A= (n.1352-14196A=)
c.10825T= (p.Leu3609=)
c.10897T= (p.Leu3633=)
c.3817T= (p.Leu1273=)
n.173T=
c.313T= (p.Leu105=)
n.2903T=
c.5470T= (p.Leu1824=)
c.*1705T= (n.*1705T=)
c.10801T= (p.Leu3601=)
n.11023T=
c.10771T= (p.Leu3591=)
c.10567T= (p.Leu3523=)
n.12495T=
c.10648T= (p.Leu3550=)
c.10732T= (p.Leu3578=)
c.4464T= (n.4464T=)
c.10684T= (p.Leu3562=)
c.10864T= (p.Leu3622=)
c.4585T= (n.4585T=)
c.10834T= (p.Leu3612=)
c.4363T= (p.Leu1455=)
n.2575T=
n.625T=
c.10972T= (p.Leu3658=)
c.10996T= (p.Leu3666=)
c.10936T= (p.Leu3646=)
c.10933T= (p.Leu3645=)
c.10918T= (p.Leu3640=)
c.10957T= (p.Leu3653=)
c.10876T= (p.Leu3626=)
c.10831T= (p.Leu3611=)
c.10861T= (p.Leu3621=)
c.10837T= (p.Leu3613=)
c.5485T= (p.Leu1829=)
c.5446T= (p.Leu1816=)
c.10960T= (p.Leu3654=)
c.10921T= (p.Leu3641=)
c.10906T= (p.Leu3636=)
c.10867T= (p.Leu3623=)
c.10819T= (p.Leu3607=)
c.10588T= (p.Leu3530=)
c.6625T= (p.Leu2209=)
c.5509T= (p.Leu1837=)
c.10723T= (p.Leu3575=)
7g.92099799T>ACA4338029AKAP9,CYP51A1c.1352-14197A>T (n.1352-14197A>T)
c.10826T>A (p.Leu3609Ter)
c.10898T>A (p.Leu3633Ter)
c.3818T>A (p.Leu1273Ter)
n.174T>A
c.314T>A (p.Leu105Ter)
n.2904T>A
c.5471T>A (p.Leu1824Ter)
c.*1706T>A (n.*1706T>A)
c.10802T>A (p.Leu3601Ter)
n.11024T>A
c.10772T>A (p.Leu3591Ter)
c.10568T>A (p.Leu3523Ter)
n.12496T>A
c.10649T>A (p.Leu3550Ter)
c.10733T>A (p.Leu3578Ter)
c.4465T>A (n.4465T>A)
c.10685T>A (p.Leu3562Ter)
c.10865T>A (p.Leu3622Ter)
c.4586T>A (n.4586T>A)
c.10835T>A (p.Leu3612Ter)
c.4364T>A (p.Leu1455Ter)
n.2576T>A
n.626T>A
c.10973T>A (p.Leu3658Ter)
c.10997T>A (p.Leu3666Ter)
c.10937T>A (p.Leu3646Ter)
c.10934T>A (p.Leu3645Ter)
c.10919T>A (p.Leu3640Ter)
c.10958T>A (p.Leu3653Ter)
c.10877T>A (p.Leu3626Ter)
c.10832T>A (p.Leu3611Ter)
c.10862T>A (p.Leu3621Ter)
c.10838T>A (p.Leu3613Ter)
c.5486T>A (p.Leu1829Ter)
c.5447T>A (p.Leu1816Ter)
c.10961T>A (p.Leu3654Ter)
c.10922T>A (p.Leu3641Ter)
c.10907T>A (p.Leu3636Ter)
c.10868T>A (p.Leu3623Ter)
c.10820T>A (p.Leu3607Ter)
c.10589T>A (p.Leu3530Ter)
c.6626T>A (p.Leu2209Ter)
c.5510T>A (p.Leu1837Ter)
c.10724T>A (p.Leu3575Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099799T>CCA368158811AKAP9,CYP51A1c.1352-14197A>G (n.1352-14197A>G)
c.10826T>C (p.Leu3609Ser)
c.10898T>C (p.Leu3633Ser)
c.3818T>C (p.Leu1273Ser)
n.174T>C
c.314T>C (p.Leu105Ser)
n.2904T>C
c.5471T>C (p.Leu1824Ser)
c.*1706T>C (n.*1706T>C)
c.10802T>C (p.Leu3601Ser)
n.11024T>C
c.10772T>C (p.Leu3591Ser)
c.10568T>C (p.Leu3523Ser)
n.12496T>C
c.10649T>C (p.Leu3550Ser)
c.10733T>C (p.Leu3578Ser)
c.4465T>C (n.4465T>C)
c.10685T>C (p.Leu3562Ser)
c.10865T>C (p.Leu3622Ser)
c.4586T>C (n.4586T>C)
c.10835T>C (p.Leu3612Ser)
c.4364T>C (p.Leu1455Ser)
n.2576T>C
n.626T>C
c.10973T>C (p.Leu3658Ser)
c.10997T>C (p.Leu3666Ser)
c.10937T>C (p.Leu3646Ser)
c.10934T>C (p.Leu3645Ser)
c.10919T>C (p.Leu3640Ser)
c.10958T>C (p.Leu3653Ser)
c.10877T>C (p.Leu3626Ser)
c.10832T>C (p.Leu3611Ser)
c.10862T>C (p.Leu3621Ser)
c.10838T>C (p.Leu3613Ser)
c.5486T>C (p.Leu1829Ser)
c.5447T>C (p.Leu1816Ser)
c.10961T>C (p.Leu3654Ser)
c.10922T>C (p.Leu3641Ser)
c.10907T>C (p.Leu3636Ser)
c.10868T>C (p.Leu3623Ser)
c.10820T>C (p.Leu3607Ser)
c.10589T>C (p.Leu3530Ser)
c.6626T>C (p.Leu2209Ser)
c.5510T>C (p.Leu1837Ser)
c.10724T>C (p.Leu3575Ser)
7g.92099799T>GCA368158813AKAP9,CYP51A1c.1352-14197A>C (n.1352-14197A>C)
c.10826T>G (p.Leu3609Ter)
c.10898T>G (p.Leu3633Ter)
c.3818T>G (p.Leu1273Ter)
n.174T>G
c.314T>G (p.Leu105Ter)
n.2904T>G
c.5471T>G (p.Leu1824Ter)
c.*1706T>G (n.*1706T>G)
c.10802T>G (p.Leu3601Ter)
n.11024T>G
c.10772T>G (p.Leu3591Ter)
c.10568T>G (p.Leu3523Ter)
n.12496T>G
c.10649T>G (p.Leu3550Ter)
c.10733T>G (p.Leu3578Ter)
c.4465T>G (n.4465T>G)
c.10685T>G (p.Leu3562Ter)
c.10865T>G (p.Leu3622Ter)
c.4586T>G (n.4586T>G)
c.10835T>G (p.Leu3612Ter)
c.4364T>G (p.Leu1455Ter)
n.2576T>G
n.626T>G
c.10973T>G (p.Leu3658Ter)
c.10997T>G (p.Leu3666Ter)
c.10937T>G (p.Leu3646Ter)
c.10934T>G (p.Leu3645Ter)
c.10919T>G (p.Leu3640Ter)
c.10958T>G (p.Leu3653Ter)
c.10877T>G (p.Leu3626Ter)
c.10832T>G (p.Leu3611Ter)
c.10862T>G (p.Leu3621Ter)
c.10838T>G (p.Leu3613Ter)
c.5486T>G (p.Leu1829Ter)
c.5447T>G (p.Leu1816Ter)
c.10961T>G (p.Leu3654Ter)
c.10922T>G (p.Leu3641Ter)
c.10907T>G (p.Leu3636Ter)
c.10868T>G (p.Leu3623Ter)
c.10820T>G (p.Leu3607Ter)
c.10589T>G (p.Leu3530Ter)
c.6626T>G (p.Leu2209Ter)
c.5510T>G (p.Leu1837Ter)
c.10724T>G (p.Leu3575Ter)
7g.92099799T=CA1725766429AKAP9,CYP51A1c.1352-14197A= (n.1352-14197A=)
c.10826T= (p.Leu3609=)
c.10898T= (p.Leu3633=)
c.3818T= (p.Leu1273=)
n.174T=
c.314T= (p.Leu105=)
n.2904T=
c.5471T= (p.Leu1824=)
c.*1706T= (n.*1706T=)
c.10802T= (p.Leu3601=)
n.11024T=
c.10772T= (p.Leu3591=)
c.10568T= (p.Leu3523=)
n.12496T=
c.10649T= (p.Leu3550=)
c.10733T= (p.Leu3578=)
c.4465T= (n.4465T=)
c.10685T= (p.Leu3562=)
c.10865T= (p.Leu3622=)
c.4586T= (n.4586T=)
c.10835T= (p.Leu3612=)
c.4364T= (p.Leu1455=)
n.2576T=
n.626T=
c.10973T= (p.Leu3658=)
c.10997T= (p.Leu3666=)
c.10937T= (p.Leu3646=)
c.10934T= (p.Leu3645=)
c.10919T= (p.Leu3640=)
c.10958T= (p.Leu3653=)
c.10877T= (p.Leu3626=)
c.10832T= (p.Leu3611=)
c.10862T= (p.Leu3621=)
c.10838T= (p.Leu3613=)
c.5486T= (p.Leu1829=)
c.5447T= (p.Leu1816=)
c.10961T= (p.Leu3654=)
c.10922T= (p.Leu3641=)
c.10907T= (p.Leu3636=)
c.10868T= (p.Leu3623=)
c.10820T= (p.Leu3607=)
c.10589T= (p.Leu3530=)
c.6626T= (p.Leu2209=)
c.5510T= (p.Leu1837=)
c.10724T= (p.Leu3575=)
7g.92099800A>CCA368158817AKAP9,CYP51A1c.1352-14198T>G (n.1352-14198T>G)
c.10827A>C (p.Leu3609Phe)
c.10899A>C (p.Leu3633Phe)
c.3819A>C (p.Leu1273Phe)
n.175A>C
c.315A>C (p.Leu105Phe)
n.2905A>C
c.5472A>C (p.Leu1824Phe)
c.*1707A>C (n.*1707A>C)
c.10803A>C (p.Leu3601Phe)
n.11025A>C
c.10773A>C (p.Leu3591Phe)
c.10569A>C (p.Leu3523Phe)
n.12497A>C
c.10650A>C (p.Leu3550Phe)
c.10734A>C (p.Leu3578Phe)
c.4466A>C (n.4466A>C)
c.10686A>C (p.Leu3562Phe)
c.10866A>C (p.Leu3622Phe)
c.4587A>C (n.4587A>C)
c.10836A>C (p.Leu3612Phe)
c.4365A>C (p.Leu1455Phe)
n.2577A>C
n.627A>C
c.10974A>C (p.Leu3658Phe)
c.10998A>C (p.Leu3666Phe)
c.10938A>C (p.Leu3646Phe)
c.10935A>C (p.Leu3645Phe)
c.10920A>C (p.Leu3640Phe)
c.10959A>C (p.Leu3653Phe)
c.10878A>C (p.Leu3626Phe)
c.10833A>C (p.Leu3611Phe)
c.10863A>C (p.Leu3621Phe)
c.10839A>C (p.Leu3613Phe)
c.5487A>C (p.Leu1829Phe)
c.5448A>C (p.Leu1816Phe)
c.10962A>C (p.Leu3654Phe)
c.10923A>C (p.Leu3641Phe)
c.10908A>C (p.Leu3636Phe)
c.10869A>C (p.Leu3623Phe)
c.10821A>C (p.Leu3607Phe)
c.10590A>C (p.Leu3530Phe)
c.6627A>C (p.Leu2209Phe)
c.5511A>C (p.Leu1837Phe)
c.10725A>C (p.Leu3575Phe)
7g.92099800A>GCA456454205AKAP9,CYP51A1c.1352-14198T>C (n.1352-14198T>C)
c.10827A>G (p.Leu3609=)
c.10899A>G (p.Leu3633=)
c.3819A>G (p.Leu1273=)
n.175A>G
c.315A>G (p.Leu105=)
n.2905A>G
c.5472A>G (p.Leu1824=)
c.*1707A>G (n.*1707A>G)
c.10803A>G (p.Leu3601=)
n.11025A>G
c.10773A>G (p.Leu3591=)
c.10569A>G (p.Leu3523=)
n.12497A>G
c.10650A>G (p.Leu3550=)
c.10734A>G (p.Leu3578=)
c.4466A>G (n.4466A>G)
c.10686A>G (p.Leu3562=)
c.10866A>G (p.Leu3622=)
c.4587A>G (n.4587A>G)
c.10836A>G (p.Leu3612=)
c.4365A>G (p.Leu1455=)
n.2577A>G
n.627A>G
c.10974A>G (p.Leu3658=)
c.10998A>G (p.Leu3666=)
c.10938A>G (p.Leu3646=)
c.10935A>G (p.Leu3645=)
c.10920A>G (p.Leu3640=)
c.10959A>G (p.Leu3653=)
c.10878A>G (p.Leu3626=)
c.10833A>G (p.Leu3611=)
c.10863A>G (p.Leu3621=)
c.10839A>G (p.Leu3613=)
c.5487A>G (p.Leu1829=)
c.5448A>G (p.Leu1816=)
c.10962A>G (p.Leu3654=)
c.10923A>G (p.Leu3641=)
c.10908A>G (p.Leu3636=)
c.10869A>G (p.Leu3623=)
c.10821A>G (p.Leu3607=)
c.10590A>G (p.Leu3530=)
c.6627A>G (p.Leu2209=)
c.5511A>G (p.Leu1837=)
c.10725A>G (p.Leu3575=)
7g.92099800A>TCA368158815AKAP9,CYP51A1c.1352-14198T>A (n.1352-14198T>A)
c.10827A>T (p.Leu3609Phe)
c.10899A>T (p.Leu3633Phe)
c.3819A>T (p.Leu1273Phe)
n.175A>T
c.315A>T (p.Leu105Phe)
n.2905A>T
c.5472A>T (p.Leu1824Phe)
c.*1707A>T (n.*1707A>T)
c.10803A>T (p.Leu3601Phe)
n.11025A>T
c.10773A>T (p.Leu3591Phe)
c.10569A>T (p.Leu3523Phe)
n.12497A>T
c.10650A>T (p.Leu3550Phe)
c.10734A>T (p.Leu3578Phe)
c.4466A>T (n.4466A>T)
c.10686A>T (p.Leu3562Phe)
c.10866A>T (p.Leu3622Phe)
c.4587A>T (n.4587A>T)
c.10836A>T (p.Leu3612Phe)
c.4365A>T (p.Leu1455Phe)
n.2577A>T
n.627A>T
c.10974A>T (p.Leu3658Phe)
c.10998A>T (p.Leu3666Phe)
c.10938A>T (p.Leu3646Phe)
c.10935A>T (p.Leu3645Phe)
c.10920A>T (p.Leu3640Phe)
c.10959A>T (p.Leu3653Phe)
c.10878A>T (p.Leu3626Phe)
c.10833A>T (p.Leu3611Phe)
c.10863A>T (p.Leu3621Phe)
c.10839A>T (p.Leu3613Phe)
c.5487A>T (p.Leu1829Phe)
c.5448A>T (p.Leu1816Phe)
c.10962A>T (p.Leu3654Phe)
c.10923A>T (p.Leu3641Phe)
c.10908A>T (p.Leu3636Phe)
c.10869A>T (p.Leu3623Phe)
c.10821A>T (p.Leu3607Phe)
c.10590A>T (p.Leu3530Phe)
c.6627A>T (p.Leu2209Phe)
c.5511A>T (p.Leu1837Phe)
c.10725A>T (p.Leu3575Phe)
7g.92099801A>CCA456454207AKAP9,CYP51A1c.1352-14199T>G (n.1352-14199T>G)
c.10828A>C (p.Arg3610=)
c.10900A>C (p.Arg3634=)
c.3820A>C (p.Arg1274=)
n.176A>C
c.316A>C (p.Arg106=)
n.2906A>C
c.5473A>C (p.Arg1825=)
c.*1708A>C (n.*1708A>C)
c.10804A>C (p.Arg3602=)
n.11026A>C
c.10774A>C (p.Arg3592=)
c.10570A>C (p.Arg3524=)
n.12498A>C
c.10651A>C (p.Arg3551=)
c.10735A>C (p.Arg3579=)
c.4467A>C (n.4467A>C)
c.10687A>C (p.Arg3563=)
c.10867A>C (p.Arg3623=)
c.4588A>C (n.4588A>C)
c.10837A>C (p.Arg3613=)
c.4366A>C (p.Arg1456=)
n.2578A>C
n.628A>C
c.10975A>C (p.Arg3659=)
c.10999A>C (p.Arg3667=)
c.10939A>C (p.Arg3647=)
c.10936A>C (p.Arg3646=)
c.10921A>C (p.Arg3641=)
c.10960A>C (p.Arg3654=)
c.10879A>C (p.Arg3627=)
c.10834A>C (p.Arg3612=)
c.10864A>C (p.Arg3622=)
c.10840A>C (p.Arg3614=)
c.5488A>C (p.Arg1830=)
c.5449A>C (p.Arg1817=)
c.10963A>C (p.Arg3655=)
c.10924A>C (p.Arg3642=)
c.10909A>C (p.Arg3637=)
c.10870A>C (p.Arg3624=)
c.10822A>C (p.Arg3608=)
c.10591A>C (p.Arg3531=)
c.6628A>C (p.Arg2210=)
c.5512A>C (p.Arg1838=)
c.10726A>C (p.Arg3576=)
7g.92099801A>GCA368158819AKAP9,CYP51A1c.1352-14199T>C (n.1352-14199T>C)
c.10828A>G (p.Arg3610Gly)
c.10900A>G (p.Arg3634Gly)
c.3820A>G (p.Arg1274Gly)
n.176A>G
c.316A>G (p.Arg106Gly)
n.2906A>G
c.5473A>G (p.Arg1825Gly)
c.*1708A>G (n.*1708A>G)
c.10804A>G (p.Arg3602Gly)
n.11026A>G
c.10774A>G (p.Arg3592Gly)
c.10570A>G (p.Arg3524Gly)
n.12498A>G
c.10651A>G (p.Arg3551Gly)
c.10735A>G (p.Arg3579Gly)
c.4467A>G (n.4467A>G)
c.10687A>G (p.Arg3563Gly)
c.10867A>G (p.Arg3623Gly)
c.4588A>G (n.4588A>G)
c.10837A>G (p.Arg3613Gly)
c.4366A>G (p.Arg1456Gly)
n.2578A>G
n.628A>G
c.10975A>G (p.Arg3659Gly)
c.10999A>G (p.Arg3667Gly)
c.10939A>G (p.Arg3647Gly)
c.10936A>G (p.Arg3646Gly)
c.10921A>G (p.Arg3641Gly)
c.10960A>G (p.Arg3654Gly)
c.10879A>G (p.Arg3627Gly)
c.10834A>G (p.Arg3612Gly)
c.10864A>G (p.Arg3622Gly)
c.10840A>G (p.Arg3614Gly)
c.5488A>G (p.Arg1830Gly)
c.5449A>G (p.Arg1817Gly)
c.10963A>G (p.Arg3655Gly)
c.10924A>G (p.Arg3642Gly)
c.10909A>G (p.Arg3637Gly)
c.10870A>G (p.Arg3624Gly)
c.10822A>G (p.Arg3608Gly)
c.10591A>G (p.Arg3531Gly)
c.6628A>G (p.Arg2210Gly)
c.5512A>G (p.Arg1838Gly)
c.10726A>G (p.Arg3576Gly)
7g.92099801A>TCA368158821AKAP9,CYP51A1c.1352-14199T>A (n.1352-14199T>A)
c.10828A>T (p.Arg3610Trp)
c.10900A>T (p.Arg3634Trp)
c.3820A>T (p.Arg1274Trp)
n.176A>T
c.316A>T (p.Arg106Trp)
n.2906A>T
c.5473A>T (p.Arg1825Trp)
c.*1708A>T (n.*1708A>T)
c.10804A>T (p.Arg3602Trp)
n.11026A>T
c.10774A>T (p.Arg3592Trp)
c.10570A>T (p.Arg3524Trp)
n.12498A>T
c.10651A>T (p.Arg3551Trp)
c.10735A>T (p.Arg3579Trp)
c.4467A>T (n.4467A>T)
c.10687A>T (p.Arg3563Trp)
c.10867A>T (p.Arg3623Trp)
c.4588A>T (n.4588A>T)
c.10837A>T (p.Arg3613Trp)
c.4366A>T (p.Arg1456Trp)
n.2578A>T
n.628A>T
c.10975A>T (p.Arg3659Trp)
c.10999A>T (p.Arg3667Trp)
c.10939A>T (p.Arg3647Trp)
c.10936A>T (p.Arg3646Trp)
c.10921A>T (p.Arg3641Trp)
c.10960A>T (p.Arg3654Trp)
c.10879A>T (p.Arg3627Trp)
c.10834A>T (p.Arg3612Trp)
c.10864A>T (p.Arg3622Trp)
c.10840A>T (p.Arg3614Trp)
c.5488A>T (p.Arg1830Trp)
c.5449A>T (p.Arg1817Trp)
c.10963A>T (p.Arg3655Trp)
c.10924A>T (p.Arg3642Trp)
c.10909A>T (p.Arg3637Trp)
c.10870A>T (p.Arg3624Trp)
c.10822A>T (p.Arg3608Trp)
c.10591A>T (p.Arg3531Trp)
c.6628A>T (p.Arg2210Trp)
c.5512A>T (p.Arg1838Trp)
c.10726A>T (p.Arg3576Trp)
7g.92099802G>ACA368158822AKAP9,CYP51A1c.1352-14200C>T (n.1352-14200C>T)
c.10829G>A (p.Arg3610Lys)
c.10901G>A (p.Arg3634Lys)
c.3821G>A (p.Arg1274Lys)
n.177G>A
c.317G>A (p.Arg106Lys)
n.2907G>A
c.5474G>A (p.Arg1825Lys)
c.*1709G>A (n.*1709G>A)
c.10805G>A (p.Arg3602Lys)
n.11027G>A
c.10775G>A (p.Arg3592Lys)
c.10571G>A (p.Arg3524Lys)
n.12499G>A
c.10652G>A (p.Arg3551Lys)
c.10736G>A (p.Arg3579Lys)
c.4468G>A (n.4468G>A)
c.10688G>A (p.Arg3563Lys)
c.10868G>A (p.Arg3623Lys)
c.4589G>A (n.4589G>A)
c.10838G>A (p.Arg3613Lys)
c.4367G>A (p.Arg1456Lys)
n.2579G>A
n.629G>A
c.10976G>A (p.Arg3659Lys)
c.11000G>A (p.Arg3667Lys)
c.10940G>A (p.Arg3647Lys)
c.10937G>A (p.Arg3646Lys)
c.10922G>A (p.Arg3641Lys)
c.10961G>A (p.Arg3654Lys)
c.10880G>A (p.Arg3627Lys)
c.10835G>A (p.Arg3612Lys)
c.10865G>A (p.Arg3622Lys)
c.10841G>A (p.Arg3614Lys)
c.5489G>A (p.Arg1830Lys)
c.5450G>A (p.Arg1817Lys)
c.10964G>A (p.Arg3655Lys)
c.10925G>A (p.Arg3642Lys)
c.10910G>A (p.Arg3637Lys)
c.10871G>A (p.Arg3624Lys)
c.10823G>A (p.Arg3608Lys)
c.10592G>A (p.Arg3531Lys)
c.6629G>A (p.Arg2210Lys)
c.5513G>A (p.Arg1838Lys)
c.10727G>A (p.Arg3576Lys)
7g.92099802G>CCA368158823AKAP9,CYP51A1c.1352-14200C>G (n.1352-14200C>G)
c.10829G>C (p.Arg3610Thr)
c.10901G>C (p.Arg3634Thr)
c.3821G>C (p.Arg1274Thr)
n.177G>C
c.317G>C (p.Arg106Thr)
n.2907G>C
c.5474G>C (p.Arg1825Thr)
c.*1709G>C (n.*1709G>C)
c.10805G>C (p.Arg3602Thr)
n.11027G>C
c.10775G>C (p.Arg3592Thr)
c.10571G>C (p.Arg3524Thr)
n.12499G>C
c.10652G>C (p.Arg3551Thr)
c.10736G>C (p.Arg3579Thr)
c.4468G>C (n.4468G>C)
c.10688G>C (p.Arg3563Thr)
c.10868G>C (p.Arg3623Thr)
c.4589G>C (n.4589G>C)
c.10838G>C (p.Arg3613Thr)
c.4367G>C (p.Arg1456Thr)
n.2579G>C
n.629G>C
c.10976G>C (p.Arg3659Thr)
c.11000G>C (p.Arg3667Thr)
c.10940G>C (p.Arg3647Thr)
c.10937G>C (p.Arg3646Thr)
c.10922G>C (p.Arg3641Thr)
c.10961G>C (p.Arg3654Thr)
c.10880G>C (p.Arg3627Thr)
c.10835G>C (p.Arg3612Thr)
c.10865G>C (p.Arg3622Thr)
c.10841G>C (p.Arg3614Thr)
c.5489G>C (p.Arg1830Thr)
c.5450G>C (p.Arg1817Thr)
c.10964G>C (p.Arg3655Thr)
c.10925G>C (p.Arg3642Thr)
c.10910G>C (p.Arg3637Thr)
c.10871G>C (p.Arg3624Thr)
c.10823G>C (p.Arg3608Thr)
c.10592G>C (p.Arg3531Thr)
c.6629G>C (p.Arg2210Thr)
c.5513G>C (p.Arg1838Thr)
c.10727G>C (p.Arg3576Thr)
7g.92099802G>TCA368158824AKAP9,CYP51A1c.1352-14200C>A (n.1352-14200C>A)
c.10829G>T (p.Arg3610Met)
c.10901G>T (p.Arg3634Met)
c.3821G>T (p.Arg1274Met)
n.177G>T
c.317G>T (p.Arg106Met)
n.2907G>T
c.5474G>T (p.Arg1825Met)
c.*1709G>T (n.*1709G>T)
c.10805G>T (p.Arg3602Met)
n.11027G>T
c.10775G>T (p.Arg3592Met)
c.10571G>T (p.Arg3524Met)
n.12499G>T
c.10652G>T (p.Arg3551Met)
c.10736G>T (p.Arg3579Met)
c.4468G>T (n.4468G>T)
c.10688G>T (p.Arg3563Met)
c.10868G>T (p.Arg3623Met)
c.4589G>T (n.4589G>T)
c.10838G>T (p.Arg3613Met)
c.4367G>T (p.Arg1456Met)
n.2579G>T
n.629G>T
c.10976G>T (p.Arg3659Met)
c.11000G>T (p.Arg3667Met)
c.10940G>T (p.Arg3647Met)
c.10937G>T (p.Arg3646Met)
c.10922G>T (p.Arg3641Met)
c.10961G>T (p.Arg3654Met)
c.10880G>T (p.Arg3627Met)
c.10835G>T (p.Arg3612Met)
c.10865G>T (p.Arg3622Met)
c.10841G>T (p.Arg3614Met)
c.5489G>T (p.Arg1830Met)
c.5450G>T (p.Arg1817Met)
c.10964G>T (p.Arg3655Met)
c.10925G>T (p.Arg3642Met)
c.10910G>T (p.Arg3637Met)
c.10871G>T (p.Arg3624Met)
c.10823G>T (p.Arg3608Met)
c.10592G>T (p.Arg3531Met)
c.6629G>T (p.Arg2210Met)
c.5513G>T (p.Arg1838Met)
c.10727G>T (p.Arg3576Met)
7g.92099803G>ACA161898777AKAP9,CYP51A1c.1352-14201C>T (n.1352-14201C>T)
c.10830G>A (p.Arg3610=)
c.10902G>A (p.Arg3634=)
c.3822G>A (p.Arg1274=)
n.178G>A
c.318G>A (p.Arg106=)
n.2908G>A
c.5475G>A (p.Arg1825=)
c.*1710G>A (n.*1710G>A)
c.10806G>A (p.Arg3602=)
n.11028G>A
c.10776G>A (p.Arg3592=)
c.10572G>A (p.Arg3524=)
n.12500G>A
c.10653G>A (p.Arg3551=)
c.10737G>A (p.Arg3579=)
c.4469G>A (n.4469G>A)
c.10689G>A (p.Arg3563=)
c.10869G>A (p.Arg3623=)
c.4590G>A (n.4590G>A)
c.10839G>A (p.Arg3613=)
c.4368G>A (p.Arg1456=)
n.2580G>A
n.630G>A
c.10977G>A (p.Arg3659=)
c.11001G>A (p.Arg3667=)
c.10941G>A (p.Arg3647=)
c.10938G>A (p.Arg3646=)
c.10923G>A (p.Arg3641=)
c.10962G>A (p.Arg3654=)
c.10881G>A (p.Arg3627=)
c.10836G>A (p.Arg3612=)
c.10866G>A (p.Arg3622=)
c.10842G>A (p.Arg3614=)
c.5490G>A (p.Arg1830=)
c.5451G>A (p.Arg1817=)
c.10965G>A (p.Arg3655=)
c.10926G>A (p.Arg3642=)
c.10911G>A (p.Arg3637=)
c.10872G>A (p.Arg3624=)
c.10824G>A (p.Arg3608=)
c.10593G>A (p.Arg3531=)
c.6630G>A (p.Arg2210=)
c.5514G>A (p.Arg1838=)
c.10728G>A (p.Arg3576=)
 dbSNP
7g.92099803G>CCA368158826AKAP9,CYP51A1c.1352-14201C>G (n.1352-14201C>G)
c.10830G>C (p.Arg3610Ser)
c.10902G>C (p.Arg3634Ser)
c.3822G>C (p.Arg1274Ser)
n.178G>C
c.318G>C (p.Arg106Ser)
n.2908G>C
c.5475G>C (p.Arg1825Ser)
c.*1710G>C (n.*1710G>C)
c.10806G>C (p.Arg3602Ser)
n.11028G>C
c.10776G>C (p.Arg3592Ser)
c.10572G>C (p.Arg3524Ser)
n.12500G>C
c.10653G>C (p.Arg3551Ser)
c.10737G>C (p.Arg3579Ser)
c.4469G>C (n.4469G>C)
c.10689G>C (p.Arg3563Ser)
c.10869G>C (p.Arg3623Ser)
c.4590G>C (n.4590G>C)
c.10839G>C (p.Arg3613Ser)
c.4368G>C (p.Arg1456Ser)
n.2580G>C
n.630G>C
c.10977G>C (p.Arg3659Ser)
c.11001G>C (p.Arg3667Ser)
c.10941G>C (p.Arg3647Ser)
c.10938G>C (p.Arg3646Ser)
c.10923G>C (p.Arg3641Ser)
c.10962G>C (p.Arg3654Ser)
c.10881G>C (p.Arg3627Ser)
c.10836G>C (p.Arg3612Ser)
c.10866G>C (p.Arg3622Ser)
c.10842G>C (p.Arg3614Ser)
c.5490G>C (p.Arg1830Ser)
c.5451G>C (p.Arg1817Ser)
c.10965G>C (p.Arg3655Ser)
c.10926G>C (p.Arg3642Ser)
c.10911G>C (p.Arg3637Ser)
c.10872G>C (p.Arg3624Ser)
c.10824G>C (p.Arg3608Ser)
c.10593G>C (p.Arg3531Ser)
c.6630G>C (p.Arg2210Ser)
c.5514G>C (p.Arg1838Ser)
c.10728G>C (p.Arg3576Ser)
7g.92099803G=CA1725766435AKAP9,CYP51A1c.1352-14201C= (n.1352-14201C=)
c.10830G= (p.Arg3610=)
c.10902G= (p.Arg3634=)
c.3822G= (p.Arg1274=)
n.178G=
c.318G= (p.Arg106=)
n.2908G=
c.5475G= (p.Arg1825=)
c.*1710G= (n.*1710G=)
c.10806G= (p.Arg3602=)
n.11028G=
c.10776G= (p.Arg3592=)
c.10572G= (p.Arg3524=)
n.12500G=
c.10653G= (p.Arg3551=)
c.10737G= (p.Arg3579=)
c.4469G= (n.4469G=)
c.10689G= (p.Arg3563=)
c.10869G= (p.Arg3623=)
c.4590G= (n.4590G=)
c.10839G= (p.Arg3613=)
c.4368G= (p.Arg1456=)
n.2580G=
n.630G=
c.10977G= (p.Arg3659=)
c.11001G= (p.Arg3667=)
c.10941G= (p.Arg3647=)
c.10938G= (p.Arg3646=)
c.10923G= (p.Arg3641=)
c.10962G= (p.Arg3654=)
c.10881G= (p.Arg3627=)
c.10836G= (p.Arg3612=)
c.10866G= (p.Arg3622=)
c.10842G= (p.Arg3614=)
c.5490G= (p.Arg1830=)
c.5451G= (p.Arg1817=)
c.10965G= (p.Arg3655=)
c.10926G= (p.Arg3642=)
c.10911G= (p.Arg3637=)
c.10872G= (p.Arg3624=)
c.10824G= (p.Arg3608=)
c.10593G= (p.Arg3531=)
c.6630G= (p.Arg2210=)
c.5514G= (p.Arg1838=)
c.10728G= (p.Arg3576=)
7g.92099803G>TCA368158828AKAP9,CYP51A1c.1352-14201C>A (n.1352-14201C>A)
c.10830G>T (p.Arg3610Ser)
c.10902G>T (p.Arg3634Ser)
c.3822G>T (p.Arg1274Ser)
n.178G>T
c.318G>T (p.Arg106Ser)
n.2908G>T
c.5475G>T (p.Arg1825Ser)
c.*1710G>T (n.*1710G>T)
c.10806G>T (p.Arg3602Ser)
n.11028G>T
c.10776G>T (p.Arg3592Ser)
c.10572G>T (p.Arg3524Ser)
n.12500G>T
c.10653G>T (p.Arg3551Ser)
c.10737G>T (p.Arg3579Ser)
c.4469G>T (n.4469G>T)
c.10689G>T (p.Arg3563Ser)
c.10869G>T (p.Arg3623Ser)
c.4590G>T (n.4590G>T)
c.10839G>T (p.Arg3613Ser)
c.4368G>T (p.Arg1456Ser)
n.2580G>T
n.630G>T
c.10977G>T (p.Arg3659Ser)
c.11001G>T (p.Arg3667Ser)
c.10941G>T (p.Arg3647Ser)
c.10938G>T (p.Arg3646Ser)
c.10923G>T (p.Arg3641Ser)
c.10962G>T (p.Arg3654Ser)
c.10881G>T (p.Arg3627Ser)
c.10836G>T (p.Arg3612Ser)
c.10866G>T (p.Arg3622Ser)
c.10842G>T (p.Arg3614Ser)
c.5490G>T (p.Arg1830Ser)
c.5451G>T (p.Arg1817Ser)
c.10965G>T (p.Arg3655Ser)
c.10926G>T (p.Arg3642Ser)
c.10911G>T (p.Arg3637Ser)
c.10872G>T (p.Arg3624Ser)
c.10824G>T (p.Arg3608Ser)
c.10593G>T (p.Arg3531Ser)
c.6630G>T (p.Arg2210Ser)
c.5514G>T (p.Arg1838Ser)
c.10728G>T (p.Arg3576Ser)
7g.92099804A>CCA368158830AKAP9,CYP51A1c.1352-14202T>G (n.1352-14202T>G)
c.10831A>C (p.Asn3611His)
c.10903A>C (p.Asn3635His)
c.3823A>C (p.Asn1275His)
n.179A>C
c.319A>C (p.Asn107His)
n.2909A>C
c.5476A>C (p.Asn1826His)
c.*1711A>C (n.*1711A>C)
c.10807A>C (p.Asn3603His)
n.11029A>C
c.10777A>C (p.Asn3593His)
c.10573A>C (p.Asn3525His)
n.12501A>C
c.10654A>C (p.Asn3552His)
c.10738A>C (p.Asn3580His)
c.4470A>C (n.4470A>C)
c.10690A>C (p.Asn3564His)
c.10870A>C (p.Asn3624His)
c.4591A>C (n.4591A>C)
c.10840A>C (p.Asn3614His)
c.4369A>C (p.Asn1457His)
n.2581A>C
n.631A>C
c.10978A>C (p.Asn3660His)
c.11002A>C (p.Asn3668His)
c.10942A>C (p.Asn3648His)
c.10939A>C (p.Asn3647His)
c.10924A>C (p.Asn3642His)
c.10963A>C (p.Asn3655His)
c.10882A>C (p.Asn3628His)
c.10837A>C (p.Asn3613His)
c.10867A>C (p.Asn3623His)
c.10843A>C (p.Asn3615His)
c.5491A>C (p.Asn1831His)
c.5452A>C (p.Asn1818His)
c.10966A>C (p.Asn3656His)
c.10927A>C (p.Asn3643His)
c.10912A>C (p.Asn3638His)
c.10873A>C (p.Asn3625His)
c.10825A>C (p.Asn3609His)
c.10594A>C (p.Asn3532His)
c.6631A>C (p.Asn2211His)
c.5515A>C (p.Asn1839His)
c.10729A>C (p.Asn3577His)
7g.92099804A>GCA368158831AKAP9,CYP51A1c.1352-14202T>C (n.1352-14202T>C)
c.10831A>G (p.Asn3611Asp)
c.10903A>G (p.Asn3635Asp)
c.3823A>G (p.Asn1275Asp)
n.179A>G
c.319A>G (p.Asn107Asp)
n.2909A>G
c.5476A>G (p.Asn1826Asp)
c.*1711A>G (n.*1711A>G)
c.10807A>G (p.Asn3603Asp)
n.11029A>G
c.10777A>G (p.Asn3593Asp)
c.10573A>G (p.Asn3525Asp)
n.12501A>G
c.10654A>G (p.Asn3552Asp)
c.10738A>G (p.Asn3580Asp)
c.4470A>G (n.4470A>G)
c.10690A>G (p.Asn3564Asp)
c.10870A>G (p.Asn3624Asp)
c.4591A>G (n.4591A>G)
c.10840A>G (p.Asn3614Asp)
c.4369A>G (p.Asn1457Asp)
n.2581A>G
n.631A>G
c.10978A>G (p.Asn3660Asp)
c.11002A>G (p.Asn3668Asp)
c.10942A>G (p.Asn3648Asp)
c.10939A>G (p.Asn3647Asp)
c.10924A>G (p.Asn3642Asp)
c.10963A>G (p.Asn3655Asp)
c.10882A>G (p.Asn3628Asp)
c.10837A>G (p.Asn3613Asp)
c.10867A>G (p.Asn3623Asp)
c.10843A>G (p.Asn3615Asp)
c.5491A>G (p.Asn1831Asp)
c.5452A>G (p.Asn1818Asp)
c.10966A>G (p.Asn3656Asp)
c.10927A>G (p.Asn3643Asp)
c.10912A>G (p.Asn3638Asp)
c.10873A>G (p.Asn3625Asp)
c.10825A>G (p.Asn3609Asp)
c.10594A>G (p.Asn3532Asp)
c.6631A>G (p.Asn2211Asp)
c.5515A>G (p.Asn1839Asp)
c.10729A>G (p.Asn3577Asp)
7g.92099804A>TCA368158832AKAP9,CYP51A1c.1352-14202T>A (n.1352-14202T>A)
c.10831A>T (p.Asn3611Tyr)
c.10903A>T (p.Asn3635Tyr)
c.3823A>T (p.Asn1275Tyr)
n.179A>T
c.319A>T (p.Asn107Tyr)
n.2909A>T
c.5476A>T (p.Asn1826Tyr)
c.*1711A>T (n.*1711A>T)
c.10807A>T (p.Asn3603Tyr)
n.11029A>T
c.10777A>T (p.Asn3593Tyr)
c.10573A>T (p.Asn3525Tyr)
n.12501A>T
c.10654A>T (p.Asn3552Tyr)
c.10738A>T (p.Asn3580Tyr)
c.4470A>T (n.4470A>T)
c.10690A>T (p.Asn3564Tyr)
c.10870A>T (p.Asn3624Tyr)
c.4591A>T (n.4591A>T)
c.10840A>T (p.Asn3614Tyr)
c.4369A>T (p.Asn1457Tyr)
n.2581A>T
n.631A>T
c.10978A>T (p.Asn3660Tyr)
c.11002A>T (p.Asn3668Tyr)
c.10942A>T (p.Asn3648Tyr)
c.10939A>T (p.Asn3647Tyr)
c.10924A>T (p.Asn3642Tyr)
c.10963A>T (p.Asn3655Tyr)
c.10882A>T (p.Asn3628Tyr)
c.10837A>T (p.Asn3613Tyr)
c.10867A>T (p.Asn3623Tyr)
c.10843A>T (p.Asn3615Tyr)
c.5491A>T (p.Asn1831Tyr)
c.5452A>T (p.Asn1818Tyr)
c.10966A>T (p.Asn3656Tyr)
c.10927A>T (p.Asn3643Tyr)
c.10912A>T (p.Asn3638Tyr)
c.10873A>T (p.Asn3625Tyr)
c.10825A>T (p.Asn3609Tyr)
c.10594A>T (p.Asn3532Tyr)
c.6631A>T (p.Asn2211Tyr)
c.5515A>T (p.Asn1839Tyr)
c.10729A>T (p.Asn3577Tyr)
7g.92099805A>CCA368158833AKAP9,CYP51A1c.1352-14203T>G (n.1352-14203T>G)
c.10832A>C (p.Asn3611Thr)
c.10904A>C (p.Asn3635Thr)
c.3824A>C (p.Asn1275Thr)
n.180A>C
c.320A>C (p.Asn107Thr)
n.2910A>C
c.5477A>C (p.Asn1826Thr)
c.*1712A>C (n.*1712A>C)
c.10808A>C (p.Asn3603Thr)
n.11030A>C
c.10778A>C (p.Asn3593Thr)
c.10574A>C (p.Asn3525Thr)
n.12502A>C
c.10655A>C (p.Asn3552Thr)
c.10739A>C (p.Asn3580Thr)
c.4471A>C (n.4471A>C)
c.10691A>C (p.Asn3564Thr)
c.10871A>C (p.Asn3624Thr)
c.4592A>C (n.4592A>C)
c.10841A>C (p.Asn3614Thr)
c.4370A>C (p.Asn1457Thr)
n.2582A>C
n.632A>C
c.10979A>C (p.Asn3660Thr)
c.11003A>C (p.Asn3668Thr)
c.10943A>C (p.Asn3648Thr)
c.10940A>C (p.Asn3647Thr)
c.10925A>C (p.Asn3642Thr)
c.10964A>C (p.Asn3655Thr)
c.10883A>C (p.Asn3628Thr)
c.10838A>C (p.Asn3613Thr)
c.10868A>C (p.Asn3623Thr)
c.10844A>C (p.Asn3615Thr)
c.5492A>C (p.Asn1831Thr)
c.5453A>C (p.Asn1818Thr)
c.10967A>C (p.Asn3656Thr)
c.10928A>C (p.Asn3643Thr)
c.10913A>C (p.Asn3638Thr)
c.10874A>C (p.Asn3625Thr)
c.10826A>C (p.Asn3609Thr)
c.10595A>C (p.Asn3532Thr)
c.6632A>C (p.Asn2211Thr)
c.5516A>C (p.Asn1839Thr)
c.10730A>C (p.Asn3577Thr)
7g.92099805A>GCA368158834AKAP9,CYP51A1c.1352-14203T>C (n.1352-14203T>C)
c.10832A>G (p.Asn3611Ser)
c.10904A>G (p.Asn3635Ser)
c.3824A>G (p.Asn1275Ser)
n.180A>G
c.320A>G (p.Asn107Ser)
n.2910A>G
c.5477A>G (p.Asn1826Ser)
c.*1712A>G (n.*1712A>G)
c.10808A>G (p.Asn3603Ser)
n.11030A>G
c.10778A>G (p.Asn3593Ser)
c.10574A>G (p.Asn3525Ser)
n.12502A>G
c.10655A>G (p.Asn3552Ser)
c.10739A>G (p.Asn3580Ser)
c.4471A>G (n.4471A>G)
c.10691A>G (p.Asn3564Ser)
c.10871A>G (p.Asn3624Ser)
c.4592A>G (n.4592A>G)
c.10841A>G (p.Asn3614Ser)
c.4370A>G (p.Asn1457Ser)
n.2582A>G
n.632A>G
c.10979A>G (p.Asn3660Ser)
c.11003A>G (p.Asn3668Ser)
c.10943A>G (p.Asn3648Ser)
c.10940A>G (p.Asn3647Ser)
c.10925A>G (p.Asn3642Ser)
c.10964A>G (p.Asn3655Ser)
c.10883A>G (p.Asn3628Ser)
c.10838A>G (p.Asn3613Ser)
c.10868A>G (p.Asn3623Ser)
c.10844A>G (p.Asn3615Ser)
c.5492A>G (p.Asn1831Ser)
c.5453A>G (p.Asn1818Ser)
c.10967A>G (p.Asn3656Ser)
c.10928A>G (p.Asn3643Ser)
c.10913A>G (p.Asn3638Ser)
c.10874A>G (p.Asn3625Ser)
c.10826A>G (p.Asn3609Ser)
c.10595A>G (p.Asn3532Ser)
c.6632A>G (p.Asn2211Ser)
c.5516A>G (p.Asn1839Ser)
c.10730A>G (p.Asn3577Ser)
 COSMIC COSMIC
7g.92099805A>TCA368158836AKAP9,CYP51A1c.1352-14203T>A (n.1352-14203T>A)
c.10832A>T (p.Asn3611Ile)
c.10904A>T (p.Asn3635Ile)
c.3824A>T (p.Asn1275Ile)
n.180A>T
c.320A>T (p.Asn107Ile)
n.2910A>T
c.5477A>T (p.Asn1826Ile)
c.*1712A>T (n.*1712A>T)
c.10808A>T (p.Asn3603Ile)
n.11030A>T
c.10778A>T (p.Asn3593Ile)
c.10574A>T (p.Asn3525Ile)
n.12502A>T
c.10655A>T (p.Asn3552Ile)
c.10739A>T (p.Asn3580Ile)
c.4471A>T (n.4471A>T)
c.10691A>T (p.Asn3564Ile)
c.10871A>T (p.Asn3624Ile)
c.4592A>T (n.4592A>T)
c.10841A>T (p.Asn3614Ile)
c.4370A>T (p.Asn1457Ile)
n.2582A>T
n.632A>T
c.10979A>T (p.Asn3660Ile)
c.11003A>T (p.Asn3668Ile)
c.10943A>T (p.Asn3648Ile)
c.10940A>T (p.Asn3647Ile)
c.10925A>T (p.Asn3642Ile)
c.10964A>T (p.Asn3655Ile)
c.10883A>T (p.Asn3628Ile)
c.10838A>T (p.Asn3613Ile)
c.10868A>T (p.Asn3623Ile)
c.10844A>T (p.Asn3615Ile)
c.5492A>T (p.Asn1831Ile)
c.5453A>T (p.Asn1818Ile)
c.10967A>T (p.Asn3656Ile)
c.10928A>T (p.Asn3643Ile)
c.10913A>T (p.Asn3638Ile)
c.10874A>T (p.Asn3625Ile)
c.10826A>T (p.Asn3609Ile)
c.10595A>T (p.Asn3532Ile)
c.6632A>T (p.Asn2211Ile)
c.5516A>T (p.Asn1839Ile)
c.10730A>T (p.Asn3577Ile)
7g.92099806C>ACA368158838AKAP9,CYP51A1c.1352-14204G>T (n.1352-14204G>T)
c.10833C>A (p.Asn3611Lys)
c.10905C>A (p.Asn3635Lys)
c.3825C>A (p.Asn1275Lys)
n.181C>A
c.321C>A (p.Asn107Lys)
n.2911C>A
c.5478C>A (p.Asn1826Lys)
c.*1713C>A (n.*1713C>A)
c.10809C>A (p.Asn3603Lys)
n.11031C>A
c.10779C>A (p.Asn3593Lys)
c.10575C>A (p.Asn3525Lys)
n.12503C>A
c.10656C>A (p.Asn3552Lys)
c.10740C>A (p.Asn3580Lys)
c.4472C>A (n.4472C>A)
c.10692C>A (p.Asn3564Lys)
c.10872C>A (p.Asn3624Lys)
c.4593C>A (n.4593C>A)
c.10842C>A (p.Asn3614Lys)
c.4371C>A (p.Asn1457Lys)
n.2583C>A
n.633C>A
c.10980C>A (p.Asn3660Lys)
c.11004C>A (p.Asn3668Lys)
c.10944C>A (p.Asn3648Lys)
c.10941C>A (p.Asn3647Lys)
c.10926C>A (p.Asn3642Lys)
c.10965C>A (p.Asn3655Lys)
c.10884C>A (p.Asn3628Lys)
c.10839C>A (p.Asn3613Lys)
c.10869C>A (p.Asn3623Lys)
c.10845C>A (p.Asn3615Lys)
c.5493C>A (p.Asn1831Lys)
c.5454C>A (p.Asn1818Lys)
c.10968C>A (p.Asn3656Lys)
c.10929C>A (p.Asn3643Lys)
c.10914C>A (p.Asn3638Lys)
c.10875C>A (p.Asn3625Lys)
c.10827C>A (p.Asn3609Lys)
c.10596C>A (p.Asn3532Lys)
c.6633C>A (p.Asn2211Lys)
c.5517C>A (p.Asn1839Lys)
c.10731C>A (p.Asn3577Lys)
7g.92099806C>GCA368158840AKAP9,CYP51A1c.1352-14204G>C (n.1352-14204G>C)
c.10833C>G (p.Asn3611Lys)
c.10905C>G (p.Asn3635Lys)
c.3825C>G (p.Asn1275Lys)
n.181C>G
c.321C>G (p.Asn107Lys)
n.2911C>G
c.5478C>G (p.Asn1826Lys)
c.*1713C>G (n.*1713C>G)
c.10809C>G (p.Asn3603Lys)
n.11031C>G
c.10779C>G (p.Asn3593Lys)
c.10575C>G (p.Asn3525Lys)
n.12503C>G
c.10656C>G (p.Asn3552Lys)
c.10740C>G (p.Asn3580Lys)
c.4472C>G (n.4472C>G)
c.10692C>G (p.Asn3564Lys)
c.10872C>G (p.Asn3624Lys)
c.4593C>G (n.4593C>G)
c.10842C>G (p.Asn3614Lys)
c.4371C>G (p.Asn1457Lys)
n.2583C>G
n.633C>G
c.10980C>G (p.Asn3660Lys)
c.11004C>G (p.Asn3668Lys)
c.10944C>G (p.Asn3648Lys)
c.10941C>G (p.Asn3647Lys)
c.10926C>G (p.Asn3642Lys)
c.10965C>G (p.Asn3655Lys)
c.10884C>G (p.Asn3628Lys)
c.10839C>G (p.Asn3613Lys)
c.10869C>G (p.Asn3623Lys)
c.10845C>G (p.Asn3615Lys)
c.5493C>G (p.Asn1831Lys)
c.5454C>G (p.Asn1818Lys)
c.10968C>G (p.Asn3656Lys)
c.10929C>G (p.Asn3643Lys)
c.10914C>G (p.Asn3638Lys)
c.10875C>G (p.Asn3625Lys)
c.10827C>G (p.Asn3609Lys)
c.10596C>G (p.Asn3532Lys)
c.6633C>G (p.Asn2211Lys)
c.5517C>G (p.Asn1839Lys)
c.10731C>G (p.Asn3577Lys)
7g.92099806C>TCA456454215AKAP9,CYP51A1c.1352-14204G>A (n.1352-14204G>A)
c.10833C>T (p.Asn3611=)
c.10905C>T (p.Asn3635=)
c.3825C>T (p.Asn1275=)
n.181C>T
c.321C>T (p.Asn107=)
n.2911C>T
c.5478C>T (p.Asn1826=)
c.*1713C>T (n.*1713C>T)
c.10809C>T (p.Asn3603=)
n.11031C>T
c.10779C>T (p.Asn3593=)
c.10575C>T (p.Asn3525=)
n.12503C>T
c.10656C>T (p.Asn3552=)
c.10740C>T (p.Asn3580=)
c.4472C>T (n.4472C>T)
c.10692C>T (p.Asn3564=)
c.10872C>T (p.Asn3624=)
c.4593C>T (n.4593C>T)
c.10842C>T (p.Asn3614=)
c.4371C>T (p.Asn1457=)
n.2583C>T
n.633C>T
c.10980C>T (p.Asn3660=)
c.11004C>T (p.Asn3668=)
c.10944C>T (p.Asn3648=)
c.10941C>T (p.Asn3647=)
c.10926C>T (p.Asn3642=)
c.10965C>T (p.Asn3655=)
c.10884C>T (p.Asn3628=)
c.10839C>T (p.Asn3613=)
c.10869C>T (p.Asn3623=)
c.10845C>T (p.Asn3615=)
c.5493C>T (p.Asn1831=)
c.5454C>T (p.Asn1818=)
c.10968C>T (p.Asn3656=)
c.10929C>T (p.Asn3643=)
c.10914C>T (p.Asn3638=)
c.10875C>T (p.Asn3625=)
c.10827C>T (p.Asn3609=)
c.10596C>T (p.Asn3532=)
c.6633C>T (p.Asn2211=)
c.5517C>T (p.Asn1839=)
c.10731C>T (p.Asn3577=)
 gnomAD v4
7g.92099807A=CA1725766437AKAP9,CYP51A1c.1352-14205T= (n.1352-14205T=)
c.10834A= (p.Met3612=)
c.10906A= (p.Met3636=)
c.3826A= (p.Met1276=)
n.182A=
c.322A= (p.Met108=)
n.2912A=
c.5479A= (p.Met1827=)
c.*1714A= (n.*1714A=)
c.10810A= (p.Met3604=)
n.11032A=
c.10780A= (p.Met3594=)
c.10576A= (p.Met3526=)
n.12504A=
c.10657A= (p.Met3553=)
c.10741A= (p.Met3581=)
c.4473A= (n.4473A=)
c.10693A= (p.Met3565=)
c.10873A= (p.Met3625=)
c.4594A= (n.4594A=)
c.10843A= (p.Met3615=)
c.4372A= (p.Met1458=)
n.2584A=
n.634A=
c.10981A= (p.Met3661=)
c.11005A= (p.Met3669=)
c.10945A= (p.Met3649=)
c.10942A= (p.Met3648=)
c.10927A= (p.Met3643=)
c.10966A= (p.Met3656=)
c.10885A= (p.Met3629=)
c.10840A= (p.Met3614=)
c.10870A= (p.Met3624=)
c.10846A= (p.Met3616=)
c.5494A= (p.Met1832=)
c.5455A= (p.Met1819=)
c.10969A= (p.Met3657=)
c.10930A= (p.Met3644=)
c.10915A= (p.Met3639=)
c.10876A= (p.Met3626=)
c.10828A= (p.Met3610=)
c.10597A= (p.Met3533=)
c.6634A= (p.Met2212=)
c.5518A= (p.Met1840=)
c.10732A= (p.Met3578=)
7g.92099807A>CCA368158842AKAP9,CYP51A1c.1352-14205T>G (n.1352-14205T>G)
c.10834A>C (p.Met3612Leu)
c.10906A>C (p.Met3636Leu)
c.3826A>C (p.Met1276Leu)
n.182A>C
c.322A>C (p.Met108Leu)
n.2912A>C
c.5479A>C (p.Met1827Leu)
c.*1714A>C (n.*1714A>C)
c.10810A>C (p.Met3604Leu)
n.11032A>C
c.10780A>C (p.Met3594Leu)
c.10576A>C (p.Met3526Leu)
n.12504A>C
c.10657A>C (p.Met3553Leu)
c.10741A>C (p.Met3581Leu)
c.4473A>C (n.4473A>C)
c.10693A>C (p.Met3565Leu)
c.10873A>C (p.Met3625Leu)
c.4594A>C (n.4594A>C)
c.10843A>C (p.Met3615Leu)
c.4372A>C (p.Met1458Leu)
n.2584A>C
n.634A>C
c.10981A>C (p.Met3661Leu)
c.11005A>C (p.Met3669Leu)
c.10945A>C (p.Met3649Leu)
c.10942A>C (p.Met3648Leu)
c.10927A>C (p.Met3643Leu)
c.10966A>C (p.Met3656Leu)
c.10885A>C (p.Met3629Leu)
c.10840A>C (p.Met3614Leu)
c.10870A>C (p.Met3624Leu)
c.10846A>C (p.Met3616Leu)
c.5494A>C (p.Met1832Leu)
c.5455A>C (p.Met1819Leu)
c.10969A>C (p.Met3657Leu)
c.10930A>C (p.Met3644Leu)
c.10915A>C (p.Met3639Leu)
c.10876A>C (p.Met3626Leu)
c.10828A>C (p.Met3610Leu)
c.10597A>C (p.Met3533Leu)
c.6634A>C (p.Met2212Leu)
c.5518A>C (p.Met1840Leu)
c.10732A>C (p.Met3578Leu)
7g.92099807A>GCA4338030AKAP9,CYP51A1c.1352-14205T>C (n.1352-14205T>C)
c.10834A>G (p.Met3612Val)
c.10906A>G (p.Met3636Val)
c.3826A>G (p.Met1276Val)
n.182A>G
c.322A>G (p.Met108Val)
n.2912A>G
c.5479A>G (p.Met1827Val)
c.*1714A>G (n.*1714A>G)
c.10810A>G (p.Met3604Val)
n.11032A>G
c.10780A>G (p.Met3594Val)
c.10576A>G (p.Met3526Val)
n.12504A>G
c.10657A>G (p.Met3553Val)
c.10741A>G (p.Met3581Val)
c.4473A>G (n.4473A>G)
c.10693A>G (p.Met3565Val)
c.10873A>G (p.Met3625Val)
c.4594A>G (n.4594A>G)
c.10843A>G (p.Met3615Val)
c.4372A>G (p.Met1458Val)
n.2584A>G
n.634A>G
c.10981A>G (p.Met3661Val)
c.11005A>G (p.Met3669Val)
c.10945A>G (p.Met3649Val)
c.10942A>G (p.Met3648Val)
c.10927A>G (p.Met3643Val)
c.10966A>G (p.Met3656Val)
c.10885A>G (p.Met3629Val)
c.10840A>G (p.Met3614Val)
c.10870A>G (p.Met3624Val)
c.10846A>G (p.Met3616Val)
c.5494A>G (p.Met1832Val)
c.5455A>G (p.Met1819Val)
c.10969A>G (p.Met3657Val)
c.10930A>G (p.Met3644Val)
c.10915A>G (p.Met3639Val)
c.10876A>G (p.Met3626Val)
c.10828A>G (p.Met3610Val)
c.10597A>G (p.Met3533Val)
c.6634A>G (p.Met2212Val)
c.5518A>G (p.Met1840Val)
c.10732A>G (p.Met3578Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.92099807A>TCA368158843AKAP9,CYP51A1c.1352-14205T>A (n.1352-14205T>A)
c.10834A>T (p.Met3612Leu)
c.10906A>T (p.Met3636Leu)
c.3826A>T (p.Met1276Leu)
n.182A>T
c.322A>T (p.Met108Leu)
n.2912A>T
c.5479A>T (p.Met1827Leu)
c.*1714A>T (n.*1714A>T)
c.10810A>T (p.Met3604Leu)
n.11032A>T
c.10780A>T (p.Met3594Leu)
c.10576A>T (p.Met3526Leu)
n.12504A>T
c.10657A>T (p.Met3553Leu)
c.10741A>T (p.Met3581Leu)
c.4473A>T (n.4473A>T)
c.10693A>T (p.Met3565Leu)
c.10873A>T (p.Met3625Leu)
c.4594A>T (n.4594A>T)
c.10843A>T (p.Met3615Leu)
c.4372A>T (p.Met1458Leu)
n.2584A>T
n.634A>T
c.10981A>T (p.Met3661Leu)
c.11005A>T (p.Met3669Leu)
c.10945A>T (p.Met3649Leu)
c.10942A>T (p.Met3648Leu)
c.10927A>T (p.Met3643Leu)
c.10966A>T (p.Met3656Leu)
c.10885A>T (p.Met3629Leu)
c.10840A>T (p.Met3614Leu)
c.10870A>T (p.Met3624Leu)
c.10846A>T (p.Met3616Leu)
c.5494A>T (p.Met1832Leu)
c.5455A>T (p.Met1819Leu)
c.10969A>T (p.Met3657Leu)
c.10930A>T (p.Met3644Leu)
c.10915A>T (p.Met3639Leu)
c.10876A>T (p.Met3626Leu)
c.10828A>T (p.Met3610Leu)
c.10597A>T (p.Met3533Leu)
c.6634A>T (p.Met2212Leu)
c.5518A>T (p.Met1840Leu)
c.10732A>T (p.Met3578Leu)
7g.92099808T>ACA368158845AKAP9,CYP51A1c.1352-14206A>T (n.1352-14206A>T)
c.10835T>A (p.Met3612Lys)
c.10907T>A (p.Met3636Lys)
c.3827T>A (p.Met1276Lys)
n.183T>A
c.323T>A (p.Met108Lys)
n.2913T>A
c.5480T>A (p.Met1827Lys)
c.*1715T>A (n.*1715T>A)
c.10811T>A (p.Met3604Lys)
n.11033T>A
c.10781T>A (p.Met3594Lys)
c.10577T>A (p.Met3526Lys)
n.12505T>A
c.10658T>A (p.Met3553Lys)
c.10742T>A (p.Met3581Lys)
c.4474T>A (n.4474T>A)
c.10694T>A (p.Met3565Lys)
c.10874T>A (p.Met3625Lys)
c.4595T>A (n.4595T>A)
c.10844T>A (p.Met3615Lys)
c.4373T>A (p.Met1458Lys)
n.2585T>A
n.635T>A
c.10982T>A (p.Met3661Lys)
c.11006T>A (p.Met3669Lys)
c.10946T>A (p.Met3649Lys)
c.10943T>A (p.Met3648Lys)
c.10928T>A (p.Met3643Lys)
c.10967T>A (p.Met3656Lys)
c.10886T>A (p.Met3629Lys)
c.10841T>A (p.Met3614Lys)
c.10871T>A (p.Met3624Lys)
c.10847T>A (p.Met3616Lys)
c.5495T>A (p.Met1832Lys)
c.5456T>A (p.Met1819Lys)
c.10970T>A (p.Met3657Lys)
c.10931T>A (p.Met3644Lys)
c.10916T>A (p.Met3639Lys)
c.10877T>A (p.Met3626Lys)
c.10829T>A (p.Met3610Lys)
c.10598T>A (p.Met3533Lys)
c.6635T>A (p.Met2212Lys)
c.5519T>A (p.Met1840Lys)
c.10733T>A (p.Met3578Lys)
7g.92099808T>CCA368158847AKAP9,CYP51A1c.1352-14206A>G (n.1352-14206A>G)
c.10835T>C (p.Met3612Thr)
c.10907T>C (p.Met3636Thr)
c.3827T>C (p.Met1276Thr)
n.183T>C
c.323T>C (p.Met108Thr)
n.2913T>C
c.5480T>C (p.Met1827Thr)
c.*1715T>C (n.*1715T>C)
c.10811T>C (p.Met3604Thr)
n.11033T>C
c.10781T>C (p.Met3594Thr)
c.10577T>C (p.Met3526Thr)
n.12505T>C
c.10658T>C (p.Met3553Thr)
c.10742T>C (p.Met3581Thr)
c.4474T>C (n.4474T>C)
c.10694T>C (p.Met3565Thr)
c.10874T>C (p.Met3625Thr)
c.4595T>C (n.4595T>C)
c.10844T>C (p.Met3615Thr)
c.4373T>C (p.Met1458Thr)
n.2585T>C
n.635T>C
c.10982T>C (p.Met3661Thr)
c.11006T>C (p.Met3669Thr)
c.10946T>C (p.Met3649Thr)
c.10943T>C (p.Met3648Thr)
c.10928T>C (p.Met3643Thr)
c.10967T>C (p.Met3656Thr)
c.10886T>C (p.Met3629Thr)
c.10841T>C (p.Met3614Thr)
c.10871T>C (p.Met3624Thr)
c.10847T>C (p.Met3616Thr)
c.5495T>C (p.Met1832Thr)
c.5456T>C (p.Met1819Thr)
c.10970T>C (p.Met3657Thr)
c.10931T>C (p.Met3644Thr)
c.10916T>C (p.Met3639Thr)
c.10877T>C (p.Met3626Thr)
c.10829T>C (p.Met3610Thr)
c.10598T>C (p.Met3533Thr)
c.6635T>C (p.Met2212Thr)
c.5519T>C (p.Met1840Thr)
c.10733T>C (p.Met3578Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.92099808T>GCA368158846AKAP9,CYP51A1c.1352-14206A>C (n.1352-14206A>C)
c.10835T>G (p.Met3612Arg)
c.10907T>G (p.Met3636Arg)
c.3827T>G (p.Met1276Arg)
n.183T>G
c.323T>G (p.Met108Arg)
n.2913T>G
c.5480T>G (p.Met1827Arg)
c.*1715T>G (n.*1715T>G)
c.10811T>G (p.Met3604Arg)
n.11033T>G
c.10781T>G (p.Met3594Arg)
c.10577T>G (p.Met3526Arg)
n.12505T>G
c.10658T>G (p.Met3553Arg)
c.10742T>G (p.Met3581Arg)
c.4474T>G (n.4474T>G)
c.10694T>G (p.Met3565Arg)
c.10874T>G (p.Met3625Arg)
c.4595T>G (n.4595T>G)
c.10844T>G (p.Met3615Arg)
c.4373T>G (p.Met1458Arg)
n.2585T>G
n.635T>G
c.10982T>G (p.Met3661Arg)
c.11006T>G (p.Met3669Arg)
c.10946T>G (p.Met3649Arg)
c.10943T>G (p.Met3648Arg)
c.10928T>G (p.Met3643Arg)
c.10967T>G (p.Met3656Arg)
c.10886T>G (p.Met3629Arg)
c.10841T>G (p.Met3614Arg)
c.10871T>G (p.Met3624Arg)
c.10847T>G (p.Met3616Arg)
c.5495T>G (p.Met1832Arg)
c.5456T>G (p.Met1819Arg)
c.10970T>G (p.Met3657Arg)
c.10931T>G (p.Met3644Arg)
c.10916T>G (p.Met3639Arg)
c.10877T>G (p.Met3626Arg)
c.10829T>G (p.Met3610Arg)
c.10598T>G (p.Met3533Arg)
c.6635T>G (p.Met2212Arg)
c.5519T>G (p.Met1840Arg)
c.10733T>G (p.Met3578Arg)
7g.92099808T=CA1725766442AKAP9,CYP51A1c.1352-14206A= (n.1352-14206A=)
c.10835T= (p.Met3612=)
c.10907T= (p.Met3636=)
c.3827T= (p.Met1276=)
n.183T=
c.323T= (p.Met108=)
n.2913T=
c.5480T= (p.Met1827=)
c.*1715T= (n.*1715T=)
c.10811T= (p.Met3604=)
n.11033T=
c.10781T= (p.Met3594=)
c.10577T= (p.Met3526=)
n.12505T=
c.10658T= (p.Met3553=)
c.10742T= (p.Met3581=)
c.4474T= (n.4474T=)
c.10694T= (p.Met3565=)
c.10874T= (p.Met3625=)
c.4595T= (n.4595T=)
c.10844T= (p.Met3615=)
c.4373T= (p.Met1458=)
n.2585T=
n.635T=
c.10982T= (p.Met3661=)
c.11006T= (p.Met3669=)
c.10946T= (p.Met3649=)
c.10943T= (p.Met3648=)
c.10928T= (p.Met3643=)
c.10967T= (p.Met3656=)
c.10886T= (p.Met3629=)
c.10841T= (p.Met3614=)
c.10871T= (p.Met3624=)
c.10847T= (p.Met3616=)
c.5495T= (p.Met1832=)
c.5456T= (p.Met1819=)
c.10970T= (p.Met3657=)
c.10931T= (p.Met3644=)
c.10916T= (p.Met3639=)
c.10877T= (p.Met3626=)
c.10829T= (p.Met3610=)
c.10598T= (p.Met3533=)
c.6635T= (p.Met2212=)
c.5519T= (p.Met1840=)
c.10733T= (p.Met3578=)
7g.92099809G>ACA368158848AKAP9,CYP51A1c.1352-14207C>T (n.1352-14207C>T)
c.10836G>A (p.Met3612Ile)
c.10908G>A (p.Met3636Ile)
c.3828G>A (p.Met1276Ile)
n.184G>A
c.324G>A (p.Met108Ile)
n.2914G>A
c.5481G>A (p.Met1827Ile)
c.*1716G>A (n.*1716G>A)
c.10812G>A (p.Met3604Ile)
n.11034G>A
c.10782G>A (p.Met3594Ile)
c.10578G>A (p.Met3526Ile)
n.12506G>A
c.10659G>A (p.Met3553Ile)
c.10743G>A (p.Met3581Ile)
c.4475G>A (n.4475G>A)
c.10695G>A (p.Met3565Ile)
c.10875G>A (p.Met3625Ile)
c.4596G>A (n.4596G>A)
c.10845G>A (p.Met3615Ile)
c.4374G>A (p.Met1458Ile)
n.2586G>A
n.636G>A
c.10983G>A (p.Met3661Ile)
c.11007G>A (p.Met3669Ile)
c.10947G>A (p.Met3649Ile)
c.10944G>A (p.Met3648Ile)
c.10929G>A (p.Met3643Ile)
c.10968G>A (p.Met3656Ile)
c.10887G>A (p.Met3629Ile)
c.10842G>A (p.Met3614Ile)
c.10872G>A (p.Met3624Ile)
c.10848G>A (p.Met3616Ile)
c.5496G>A (p.Met1832Ile)
c.5457G>A (p.Met1819Ile)
c.10971G>A (p.Met3657Ile)
c.10932G>A (p.Met3644Ile)
c.10917G>A (p.Met3639Ile)
c.10878G>A (p.Met3626Ile)
c.10830G>A (p.Met3610Ile)
c.10599G>A (p.Met3533Ile)
c.6636G>A (p.Met2212Ile)
c.5520G>A (p.Met1840Ile)
c.10734G>A (p.Met3578Ile)
 gnomAD v4
7g.92099809G>CCA368158852AKAP9,CYP51A1c.1352-14207C>G (n.1352-14207C>G)
c.10836G>C (p.Met3612Ile)
c.10908G>C (p.Met3636Ile)
c.3828G>C (p.Met1276Ile)
n.184G>C
c.324G>C (p.Met108Ile)
n.2914G>C
c.5481G>C (p.Met1827Ile)
c.*1716G>C (n.*1716G>C)
c.10812G>C (p.Met3604Ile)
n.11034G>C
c.10782G>C (p.Met3594Ile)
c.10578G>C (p.Met3526Ile)
n.12506G>C
c.10659G>C (p.Met3553Ile)
c.10743G>C (p.Met3581Ile)
c.4475G>C (n.4475G>C)
c.10695G>C (p.Met3565Ile)
c.10875G>C (p.Met3625Ile)
c.4596G>C (n.4596G>C)
c.10845G>C (p.Met3615Ile)
c.4374G>C (p.Met1458Ile)
n.2586G>C
n.636G>C
c.10983G>C (p.Met3661Ile)
c.11007G>C (p.Met3669Ile)
c.10947G>C (p.Met3649Ile)
c.10944G>C (p.Met3648Ile)
c.10929G>C (p.Met3643Ile)
c.10968G>C (p.Met3656Ile)
c.10887G>C (p.Met3629Ile)
c.10842G>C (p.Met3614Ile)
c.10872G>C (p.Met3624Ile)
c.10848G>C (p.Met3616Ile)
c.5496G>C (p.Met1832Ile)
c.5457G>C (p.Met1819Ile)
c.10971G>C (p.Met3657Ile)
c.10932G>C (p.Met3644Ile)
c.10917G>C (p.Met3639Ile)
c.10878G>C (p.Met3626Ile)
c.10830G>C (p.Met3610Ile)
c.10599G>C (p.Met3533Ile)
c.6636G>C (p.Met2212Ile)
c.5520G>C (p.Met1840Ile)
c.10734G>C (p.Met3578Ile)
7g.92099809G>TCA368158850AKAP9,CYP51A1c.1352-14207C>A (n.1352-14207C>A)
c.10836G>T (p.Met3612Ile)
c.10908G>T (p.Met3636Ile)
c.3828G>T (p.Met1276Ile)
n.184G>T
c.324G>T (p.Met108Ile)
n.2914G>T
c.5481G>T (p.Met1827Ile)
c.*1716G>T (n.*1716G>T)
c.10812G>T (p.Met3604Ile)
n.11034G>T
c.10782G>T (p.Met3594Ile)
c.10578G>T (p.Met3526Ile)
n.12506G>T
c.10659G>T (p.Met3553Ile)
c.10743G>T (p.Met3581Ile)
c.4475G>T (n.4475G>T)
c.10695G>T (p.Met3565Ile)
c.10875G>T (p.Met3625Ile)
c.4596G>T (n.4596G>T)
c.10845G>T (p.Met3615Ile)
c.4374G>T (p.Met1458Ile)
n.2586G>T
n.636G>T
c.10983G>T (p.Met3661Ile)
c.11007G>T (p.Met3669Ile)
c.10947G>T (p.Met3649Ile)
c.10944G>T (p.Met3648Ile)
c.10929G>T (p.Met3643Ile)
c.10968G>T (p.Met3656Ile)
c.10887G>T (p.Met3629Ile)
c.10842G>T (p.Met3614Ile)
c.10872G>T (p.Met3624Ile)
c.10848G>T (p.Met3616Ile)
c.5496G>T (p.Met1832Ile)
c.5457G>T (p.Met1819Ile)
c.10971G>T (p.Met3657Ile)
c.10932G>T (p.Met3644Ile)
c.10917G>T (p.Met3639Ile)
c.10878G>T (p.Met3626Ile)
c.10830G>T (p.Met3610Ile)
c.10599G>T (p.Met3533Ile)
c.6636G>T (p.Met2212Ile)
c.5520G>T (p.Met1840Ile)
c.10734G>T (p.Met3578Ile)
7g.92099810G>ACA368158854AKAP9,CYP51A1c.1352-14208C>T (n.1352-14208C>T)
c.10837G>A (p.Val3613Ile)
c.10909G>A (p.Val3637Ile)
c.3829G>A (p.Val1277Ile)
n.185G>A
c.325G>A (p.Val109Ile)
n.2915G>A
c.5482G>A (p.Val1828Ile)
c.*1717G>A (n.*1717G>A)
c.10813G>A (p.Val3605Ile)
n.11035G>A
c.10783G>A (p.Val3595Ile)
c.10579G>A (p.Val3527Ile)
n.12507G>A
c.10660G>A (p.Val3554Ile)
c.10744G>A (p.Val3582Ile)
c.4476G>A (n.4476G>A)
c.10696G>A (p.Val3566Ile)
c.10876G>A (p.Val3626Ile)
c.4597G>A (n.4597G>A)
c.10846G>A (p.Val3616Ile)
c.4375G>A (p.Val1459Ile)
n.2587G>A
n.637G>A
c.10984G>A (p.Val3662Ile)
c.11008G>A (p.Val3670Ile)
c.10948G>A (p.Val3650Ile)
c.10945G>A (p.Val3649Ile)
c.10930G>A (p.Val3644Ile)
c.10969G>A (p.Val3657Ile)
c.10888G>A (p.Val3630Ile)
c.10843G>A (p.Val3615Ile)
c.10873G>A (p.Val3625Ile)
c.10849G>A (p.Val3617Ile)
c.5497G>A (p.Val1833Ile)
c.5458G>A (p.Val1820Ile)
c.10972G>A (p.Val3658Ile)
c.10933G>A (p.Val3645Ile)
c.10918G>A (p.Val3640Ile)
c.10879G>A (p.Val3627Ile)
c.10831G>A (p.Val3611Ile)
c.10600G>A (p.Val3534Ile)
c.6637G>A (p.Val2213Ile)
c.5521G>A (p.Val1841Ile)
c.10735G>A (p.Val3579Ile)
 dbSNP gnomAD v4
7g.92099810G>CCA368158855AKAP9,CYP51A1c.1352-14208C>G (n.1352-14208C>G)
c.10837G>C (p.Val3613Leu)
c.10909G>C (p.Val3637Leu)
c.3829G>C (p.Val1277Leu)
n.185G>C
c.325G>C (p.Val109Leu)
n.2915G>C
c.5482G>C (p.Val1828Leu)
c.*1717G>C (n.*1717G>C)
c.10813G>C (p.Val3605Leu)
n.11035G>C
c.10783G>C (p.Val3595Leu)
c.10579G>C (p.Val3527Leu)
n.12507G>C
c.10660G>C (p.Val3554Leu)
c.10744G>C (p.Val3582Leu)
c.4476G>C (n.4476G>C)
c.10696G>C (p.Val3566Leu)
c.10876G>C (p.Val3626Leu)
c.4597G>C (n.4597G>C)
c.10846G>C (p.Val3616Leu)
c.4375G>C (p.Val1459Leu)
n.2587G>C
n.637G>C
c.10984G>C (p.Val3662Leu)
c.11008G>C (p.Val3670Leu)
c.10948G>C (p.Val3650Leu)
c.10945G>C (p.Val3649Leu)
c.10930G>C (p.Val3644Leu)
c.10969G>C (p.Val3657Leu)
c.10888G>C (p.Val3630Leu)
c.10843G>C (p.Val3615Leu)
c.10873G>C (p.Val3625Leu)
c.10849G>C (p.Val3617Leu)
c.5497G>C (p.Val1833Leu)
c.5458G>C (p.Val1820Leu)
c.10972G>C (p.Val3658Leu)
c.10933G>C (p.Val3645Leu)
c.10918G>C (p.Val3640Leu)
c.10879G>C (p.Val3627Leu)
c.10831G>C (p.Val3611Leu)
c.10600G>C (p.Val3534Leu)
c.6637G>C (p.Val2213Leu)
c.5521G>C (p.Val1841Leu)
c.10735G>C (p.Val3579Leu)
7g.92099810G=CA1725766450AKAP9,CYP51A1c.1352-14208C= (n.1352-14208C=)
c.10837G= (p.Val3613=)
c.10909G= (p.Val3637=)
c.3829G= (p.Val1277=)
n.185G=
c.325G= (p.Val109=)
n.2915G=
c.5482G= (p.Val1828=)
c.*1717G= (n.*1717G=)
c.10813G= (p.Val3605=)
n.11035G=
c.10783G= (p.Val3595=)
c.10579G= (p.Val3527=)
n.12507G=
c.10660G= (p.Val3554=)
c.10744G= (p.Val3582=)
c.4476G= (n.4476G=)
c.10696G= (p.Val3566=)
c.10876G= (p.Val3626=)
c.4597G= (n.4597G=)
c.10846G= (p.Val3616=)
c.4375G= (p.Val1459=)
n.2587G=
n.637G=
c.10984G= (p.Val3662=)
c.11008G= (p.Val3670=)
c.10948G= (p.Val3650=)
c.10945G= (p.Val3649=)
c.10930G= (p.Val3644=)
c.10969G= (p.Val3657=)
c.10888G= (p.Val3630=)
c.10843G= (p.Val3615=)
c.10873G= (p.Val3625=)
c.10849G= (p.Val3617=)
c.5497G= (p.Val1833=)
c.5458G= (p.Val1820=)
c.10972G= (p.Val3658=)
c.10933G= (p.Val3645=)
c.10918G= (p.Val3640=)
c.10879G= (p.Val3627=)
c.10831G= (p.Val3611=)
c.10600G= (p.Val3534=)
c.6637G= (p.Val2213=)
c.5521G= (p.Val1841=)
c.10735G= (p.Val3579=)
7g.92099810G>TCA368158856AKAP9,CYP51A1c.1352-14208C>A (n.1352-14208C>A)
c.10837G>T (p.Val3613Phe)
c.10909G>T (p.Val3637Phe)
c.3829G>T (p.Val1277Phe)
n.185G>T
c.325G>T (p.Val109Phe)
n.2915G>T
c.5482G>T (p.Val1828Phe)
c.*1717G>T (n.*1717G>T)
c.10813G>T (p.Val3605Phe)
n.11035G>T
c.10783G>T (p.Val3595Phe)
c.10579G>T (p.Val3527Phe)
n.12507G>T
c.10660G>T (p.Val3554Phe)
c.10744G>T (p.Val3582Phe)
c.4476G>T (n.4476G>T)
c.10696G>T (p.Val3566Phe)
c.10876G>T (p.Val3626Phe)
c.4597G>T (n.4597G>T)
c.10846G>T (p.Val3616Phe)
c.4375G>T (p.Val1459Phe)
n.2587G>T
n.637G>T
c.10984G>T (p.Val3662Phe)
c.11008G>T (p.Val3670Phe)
c.10948G>T (p.Val3650Phe)
c.10945G>T (p.Val3649Phe)
c.10930G>T (p.Val3644Phe)
c.10969G>T (p.Val3657Phe)
c.10888G>T (p.Val3630Phe)
c.10843G>T (p.Val3615Phe)
c.10873G>T (p.Val3625Phe)
c.10849G>T (p.Val3617Phe)
c.5497G>T (p.Val1833Phe)
c.5458G>T (p.Val1820Phe)
c.10972G>T (p.Val3658Phe)
c.10933G>T (p.Val3645Phe)
c.10918G>T (p.Val3640Phe)
c.10879G>T (p.Val3627Phe)
c.10831G>T (p.Val3611Phe)
c.10600G>T (p.Val3534Phe)
c.6637G>T (p.Val2213Phe)
c.5521G>T (p.Val1841Phe)
c.10735G>T (p.Val3579Phe)
7g.92099811T>ACA368158857AKAP9,CYP51A1c.1352-14209A>T (n.1352-14209A>T)
c.10838T>A (p.Val3613Asp)
c.10910T>A (p.Val3637Asp)
c.3830T>A (p.Val1277Asp)
n.186T>A
c.326T>A (p.Val109Asp)
n.2916T>A
c.5483T>A (p.Val1828Asp)
c.*1718T>A (n.*1718T>A)
c.10814T>A (p.Val3605Asp)
n.11036T>A
c.10784T>A (p.Val3595Asp)
c.10580T>A (p.Val3527Asp)
n.12508T>A
c.10661T>A (p.Val3554Asp)
c.10745T>A (p.Val3582Asp)
c.4477T>A (n.4477T>A)
c.10697T>A (p.Val3566Asp)
c.10877T>A (p.Val3626Asp)
c.4598T>A (n.4598T>A)
c.10847T>A (p.Val3616Asp)
c.4376T>A (p.Val1459Asp)
n.2588T>A
n.638T>A
c.10985T>A (p.Val3662Asp)
c.11009T>A (p.Val3670Asp)
c.10949T>A (p.Val3650Asp)
c.10946T>A (p.Val3649Asp)
c.10931T>A (p.Val3644Asp)
c.10970T>A (p.Val3657Asp)
c.10889T>A (p.Val3630Asp)
c.10844T>A (p.Val3615Asp)
c.10874T>A (p.Val3625Asp)
c.10850T>A (p.Val3617Asp)
c.5498T>A (p.Val1833Asp)
c.5459T>A (p.Val1820Asp)
c.10973T>A (p.Val3658Asp)
c.10934T>A (p.Val3645Asp)
c.10919T>A (p.Val3640Asp)
c.10880T>A (p.Val3627Asp)
c.10832T>A (p.Val3611Asp)
c.10601T>A (p.Val3534Asp)
c.6638T>A (p.Val2213Asp)
c.5522T>A (p.Val1841Asp)
c.10736T>A (p.Val3579Asp)
7g.92099811T>CCA368158858AKAP9,CYP51A1c.1352-14209A>G (n.1352-14209A>G)
c.10838T>C (p.Val3613Ala)
c.10910T>C (p.Val3637Ala)
c.3830T>C (p.Val1277Ala)
n.186T>C
c.326T>C (p.Val109Ala)
n.2916T>C
c.5483T>C (p.Val1828Ala)
c.*1718T>C (n.*1718T>C)
c.10814T>C (p.Val3605Ala)
n.11036T>C
c.10784T>C (p.Val3595Ala)
c.10580T>C (p.Val3527Ala)
n.12508T>C
c.10661T>C (p.Val3554Ala)
c.10745T>C (p.Val3582Ala)
c.4477T>C (n.4477T>C)
c.10697T>C (p.Val3566Ala)
c.10877T>C (p.Val3626Ala)
c.4598T>C (n.4598T>C)
c.10847T>C (p.Val3616Ala)
c.4376T>C (p.Val1459Ala)
n.2588T>C
n.638T>C
c.10985T>C (p.Val3662Ala)
c.11009T>C (p.Val3670Ala)
c.10949T>C (p.Val3650Ala)
c.10946T>C (p.Val3649Ala)
c.10931T>C (p.Val3644Ala)
c.10970T>C (p.Val3657Ala)
c.10889T>C (p.Val3630Ala)
c.10844T>C (p.Val3615Ala)
c.10874T>C (p.Val3625Ala)
c.10850T>C (p.Val3617Ala)
c.5498T>C (p.Val1833Ala)
c.5459T>C (p.Val1820Ala)
c.10973T>C (p.Val3658Ala)
c.10934T>C (p.Val3645Ala)
c.10919T>C (p.Val3640Ala)
c.10880T>C (p.Val3627Ala)
c.10832T>C (p.Val3611Ala)
c.10601T>C (p.Val3534Ala)
c.6638T>C (p.Val2213Ala)
c.5522T>C (p.Val1841Ala)
c.10736T>C (p.Val3579Ala)
7g.92099811T>GCA368158859AKAP9,CYP51A1c.1352-14209A>C (n.1352-14209A>C)
c.10838T>G (p.Val3613Gly)
c.10910T>G (p.Val3637Gly)
c.3830T>G (p.Val1277Gly)
n.186T>G
c.326T>G (p.Val109Gly)
n.2916T>G
c.5483T>G (p.Val1828Gly)
c.*1718T>G (n.*1718T>G)
c.10814T>G (p.Val3605Gly)
n.11036T>G
c.10784T>G (p.Val3595Gly)
c.10580T>G (p.Val3527Gly)
n.12508T>G
c.10661T>G (p.Val3554Gly)
c.10745T>G (p.Val3582Gly)
c.4477T>G (n.4477T>G)
c.10697T>G (p.Val3566Gly)
c.10877T>G (p.Val3626Gly)
c.4598T>G (n.4598T>G)
c.10847T>G (p.Val3616Gly)
c.4376T>G (p.Val1459Gly)
n.2588T>G
n.638T>G
c.10985T>G (p.Val3662Gly)
c.11009T>G (p.Val3670Gly)
c.10949T>G (p.Val3650Gly)
c.10946T>G (p.Val3649Gly)
c.10931T>G (p.Val3644Gly)
c.10970T>G (p.Val3657Gly)
c.10889T>G (p.Val3630Gly)
c.10844T>G (p.Val3615Gly)
c.10874T>G (p.Val3625Gly)
c.10850T>G (p.Val3617Gly)
c.5498T>G (p.Val1833Gly)
c.5459T>G (p.Val1820Gly)
c.10973T>G (p.Val3658Gly)
c.10934T>G (p.Val3645Gly)
c.10919T>G (p.Val3640Gly)
c.10880T>G (p.Val3627Gly)
c.10832T>G (p.Val3611Gly)
c.10601T>G (p.Val3534Gly)
c.6638T>G (p.Val2213Gly)
c.5522T>G (p.Val1841Gly)
c.10736T>G (p.Val3579Gly)
7g.92099812T>ACA456454222AKAP9,CYP51A1c.1352-14210A>T (n.1352-14210A>T)
c.10839T>A (p.Val3613=)
c.10911T>A (p.Val3637=)
c.3831T>A (p.Val1277=)
n.187T>A
c.327T>A (p.Val109=)
n.2917T>A
c.5484T>A (p.Val1828=)
c.*1719T>A (n.*1719T>A)
c.10815T>A (p.Val3605=)
n.11037T>A
c.10785T>A (p.Val3595=)
c.10581T>A (p.Val3527=)
n.12509T>A
c.10662T>A (p.Val3554=)
c.10746T>A (p.Val3582=)
c.4478T>A (n.4478T>A)
c.10698T>A (p.Val3566=)
c.10878T>A (p.Val3626=)
c.4599T>A (n.4599T>A)
c.10848T>A (p.Val3616=)
c.4377T>A (p.Val1459=)
n.2589T>A
n.639T>A
c.10986T>A (p.Val3662=)
c.11010T>A (p.Val3670=)
c.10950T>A (p.Val3650=)
c.10947T>A (p.Val3649=)
c.10932T>A (p.Val3644=)
c.10971T>A (p.Val3657=)
c.10890T>A (p.Val3630=)
c.10845T>A (p.Val3615=)
c.10875T>A (p.Val3625=)
c.10851T>A (p.Val3617=)
c.5499T>A (p.Val1833=)
c.5460T>A (p.Val1820=)
c.10974T>A (p.Val3658=)
c.10935T>A (p.Val3645=)
c.10920T>A (p.Val3640=)
c.10881T>A (p.Val3627=)
c.10833T>A (p.Val3611=)
c.10602T>A (p.Val3534=)
c.6639T>A (p.Val2213=)
c.5523T>A (p.Val1841=)
c.10737T>A (p.Val3579=)
7g.92099812T>CCA456454224AKAP9,CYP51A1c.1352-14210A>G (n.1352-14210A>G)
c.10839T>C (p.Val3613=)
c.10911T>C (p.Val3637=)
c.3831T>C (p.Val1277=)
n.187T>C
c.327T>C (p.Val109=)
n.2917T>C
c.5484T>C (p.Val1828=)
c.*1719T>C (n.*1719T>C)
c.10815T>C (p.Val3605=)
n.11037T>C
c.10785T>C (p.Val3595=)
c.10581T>C (p.Val3527=)
n.12509T>C
c.10662T>C (p.Val3554=)
c.10746T>C (p.Val3582=)
c.4478T>C (n.4478T>C)
c.10698T>C (p.Val3566=)
c.10878T>C (p.Val3626=)
c.4599T>C (n.4599T>C)
c.10848T>C (p.Val3616=)
c.4377T>C (p.Val1459=)
n.2589T>C
n.639T>C
c.10986T>C (p.Val3662=)
c.11010T>C (p.Val3670=)
c.10950T>C (p.Val3650=)
c.10947T>C (p.Val3649=)
c.10932T>C (p.Val3644=)
c.10971T>C (p.Val3657=)
c.10890T>C (p.Val3630=)
c.10845T>C (p.Val3615=)
c.10875T>C (p.Val3625=)
c.10851T>C (p.Val3617=)
c.5499T>C (p.Val1833=)
c.5460T>C (p.Val1820=)
c.10974T>C (p.Val3658=)
c.10935T>C (p.Val3645=)
c.10920T>C (p.Val3640=)
c.10881T>C (p.Val3627=)
c.10833T>C (p.Val3611=)
c.10602T>C (p.Val3534=)
c.6639T>C (p.Val2213=)
c.5523T>C (p.Val1841=)
c.10737T>C (p.Val3579=)
7g.92099812T>GCA456454226AKAP9,CYP51A1c.1352-14210A>C (n.1352-14210A>C)
c.10839T>G (p.Val3613=)
c.10911T>G (p.Val3637=)
c.3831T>G (p.Val1277=)
n.187T>G
c.327T>G (p.Val109=)
n.2917T>G
c.5484T>G (p.Val1828=)
c.*1719T>G (n.*1719T>G)
c.10815T>G (p.Val3605=)
n.11037T>G
c.10785T>G (p.Val3595=)
c.10581T>G (p.Val3527=)
n.12509T>G
c.10662T>G (p.Val3554=)
c.10746T>G (p.Val3582=)
c.4478T>G (n.4478T>G)
c.10698T>G (p.Val3566=)
c.10878T>G (p.Val3626=)
c.4599T>G (n.4599T>G)
c.10848T>G (p.Val3616=)
c.4377T>G (p.Val1459=)
n.2589T>G
n.639T>G
c.10986T>G (p.Val3662=)
c.11010T>G (p.Val3670=)
c.10950T>G (p.Val3650=)
c.10947T>G (p.Val3649=)
c.10932T>G (p.Val3644=)
c.10971T>G (p.Val3657=)
c.10890T>G (p.Val3630=)
c.10845T>G (p.Val3615=)
c.10875T>G (p.Val3625=)
c.10851T>G (p.Val3617=)
c.5499T>G (p.Val1833=)
c.5460T>G (p.Val1820=)
c.10974T>G (p.Val3658=)
c.10935T>G (p.Val3645=)
c.10920T>G (p.Val3640=)
c.10881T>G (p.Val3627=)
c.10833T>G (p.Val3611=)
c.10602T>G (p.Val3534=)
c.6639T>G (p.Val2213=)
c.5523T>G (p.Val1841=)
c.10737T>G (p.Val3579=)
7g.92099813A=CA1725766455AKAP9,CYP51A1c.1352-14211T= (n.1352-14211T=)
c.10840A= (p.Met3614=)
c.10912A= (p.Met3638=)
c.3832A= (p.Met1278=)
n.188A=
c.328A= (p.Met110=)
n.2918A=
c.5485A= (p.Met1829=)
c.*1720A= (n.*1720A=)
c.10816A= (p.Met3606=)
n.11038A=
c.10786A= (p.Met3596=)
c.10582A= (p.Met3528=)
n.12510A=
c.10663A= (p.Met3555=)
c.10747A= (p.Met3583=)
c.4479A= (n.4479A=)
c.10699A= (p.Met3567=)
c.10879A= (p.Met3627=)
c.4600A= (n.4600A=)
c.10849A= (p.Met3617=)
c.4378A= (p.Met1460=)
n.2590A=
n.640A=
c.10987A= (p.Met3663=)
c.11011A= (p.Met3671=)
c.10951A= (p.Met3651=)
c.10948A= (p.Met3650=)
c.10933A= (p.Met3645=)
c.10972A= (p.Met3658=)
c.10891A= (p.Met3631=)
c.10846A= (p.Met3616=)
c.10876A= (p.Met3626=)
c.10852A= (p.Met3618=)
c.5500A= (p.Met1834=)
c.5461A= (p.Met1821=)
c.10975A= (p.Met3659=)
c.10936A= (p.Met3646=)
c.10921A= (p.Met3641=)
c.10882A= (p.Met3628=)
c.10834A= (p.Met3612=)
c.10603A= (p.Met3535=)
c.6640A= (p.Met2214=)
c.5524A= (p.Met1842=)
c.10738A= (p.Met3580=)
7g.92099813A>CCA368158860AKAP9,CYP51A1c.1352-14211T>G (n.1352-14211T>G)
c.10840A>C (p.Met3614Leu)
c.10912A>C (p.Met3638Leu)
c.3832A>C (p.Met1278Leu)
n.188A>C
c.328A>C (p.Met110Leu)
n.2918A>C
c.5485A>C (p.Met1829Leu)
c.*1720A>C (n.*1720A>C)
c.10816A>C (p.Met3606Leu)
n.11038A>C
c.10786A>C (p.Met3596Leu)
c.10582A>C (p.Met3528Leu)
n.12510A>C
c.10663A>C (p.Met3555Leu)
c.10747A>C (p.Met3583Leu)
c.4479A>C (n.4479A>C)
c.10699A>C (p.Met3567Leu)
c.10879A>C (p.Met3627Leu)
c.4600A>C (n.4600A>C)
c.10849A>C (p.Met3617Leu)
c.4378A>C (p.Met1460Leu)
n.2590A>C
n.640A>C
c.10987A>C (p.Met3663Leu)
c.11011A>C (p.Met3671Leu)
c.10951A>C (p.Met3651Leu)
c.10948A>C (p.Met3650Leu)
c.10933A>C (p.Met3645Leu)
c.10972A>C (p.Met3658Leu)
c.10891A>C (p.Met3631Leu)
c.10846A>C (p.Met3616Leu)
c.10876A>C (p.Met3626Leu)
c.10852A>C (p.Met3618Leu)
c.5500A>C (p.Met1834Leu)
c.5461A>C (p.Met1821Leu)
c.10975A>C (p.Met3659Leu)
c.10936A>C (p.Met3646Leu)
c.10921A>C (p.Met3641Leu)
c.10882A>C (p.Met3628Leu)
c.10834A>C (p.Met3612Leu)
c.10603A>C (p.Met3535Leu)
c.6640A>C (p.Met2214Leu)
c.5524A>C (p.Met1842Leu)
c.10738A>C (p.Met3580Leu)
7g.92099813A>GCA163160AKAP9,CYP51A1c.1352-14211T>C (n.1352-14211T>C)
c.10840A>G (p.Met3614Val)
c.10912A>G (p.Met3638Val)
c.3832A>G (p.Met1278Val)
n.188A>G
c.328A>G (p.Met110Val)
n.2918A>G
c.5485A>G (p.Met1829Val)
c.*1720A>G (n.*1720A>G)
c.10816A>G (p.Met3606Val)
n.11038A>G
c.10786A>G (p.Met3596Val)
c.10582A>G (p.Met3528Val)
n.12510A>G
c.10663A>G (p.Met3555Val)
c.10747A>G (p.Met3583Val)
c.4479A>G (n.4479A>G)
c.10699A>G (p.Met3567Val)
c.10879A>G (p.Met3627Val)
c.4600A>G (n.4600A>G)
c.10849A>G (p.Met3617Val)
c.4378A>G (p.Met1460Val)
n.2590A>G
n.640A>G
c.10987A>G (p.Met3663Val)
c.11011A>G (p.Met3671Val)
c.10951A>G (p.Met3651Val)
c.10948A>G (p.Met3650Val)
c.10933A>G (p.Met3645Val)
c.10972A>G (p.Met3658Val)
c.10891A>G (p.Met3631Val)
c.10846A>G (p.Met3616Val)
c.10876A>G (p.Met3626Val)
c.10852A>G (p.Met3618Val)
c.5500A>G (p.Met1834Val)
c.5461A>G (p.Met1821Val)
c.10975A>G (p.Met3659Val)
c.10936A>G (p.Met3646Val)
c.10921A>G (p.Met3641Val)
c.10882A>G (p.Met3628Val)
c.10834A>G (p.Met3612Val)
c.10603A>G (p.Met3535Val)
c.6640A>G (p.Met2214Val)
c.5524A>G (p.Met1842Val)
c.10738A>G (p.Met3580Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099813A>TCA368158862AKAP9,CYP51A1c.1352-14211T>A (n.1352-14211T>A)
c.10840A>T (p.Met3614Leu)
c.10912A>T (p.Met3638Leu)
c.3832A>T (p.Met1278Leu)
n.188A>T
c.328A>T (p.Met110Leu)
n.2918A>T
c.5485A>T (p.Met1829Leu)
c.*1720A>T (n.*1720A>T)
c.10816A>T (p.Met3606Leu)
n.11038A>T
c.10786A>T (p.Met3596Leu)
c.10582A>T (p.Met3528Leu)
n.12510A>T
c.10663A>T (p.Met3555Leu)
c.10747A>T (p.Met3583Leu)
c.4479A>T (n.4479A>T)
c.10699A>T (p.Met3567Leu)
c.10879A>T (p.Met3627Leu)
c.4600A>T (n.4600A>T)
c.10849A>T (p.Met3617Leu)
c.4378A>T (p.Met1460Leu)
n.2590A>T
n.640A>T
c.10987A>T (p.Met3663Leu)
c.11011A>T (p.Met3671Leu)
c.10951A>T (p.Met3651Leu)
c.10948A>T (p.Met3650Leu)
c.10933A>T (p.Met3645Leu)
c.10972A>T (p.Met3658Leu)
c.10891A>T (p.Met3631Leu)
c.10846A>T (p.Met3616Leu)
c.10876A>T (p.Met3626Leu)
c.10852A>T (p.Met3618Leu)
c.5500A>T (p.Met1834Leu)
c.5461A>T (p.Met1821Leu)
c.10975A>T (p.Met3659Leu)
c.10936A>T (p.Met3646Leu)
c.10921A>T (p.Met3641Leu)
c.10882A>T (p.Met3628Leu)
c.10834A>T (p.Met3612Leu)
c.10603A>T (p.Met3535Leu)
c.6640A>T (p.Met2214Leu)
c.5524A>T (p.Met1842Leu)
c.10738A>T (p.Met3580Leu)
 gnomAD v4
7g.92099814T>ACA368158864AKAP9,CYP51A1c.1352-14212A>T (n.1352-14212A>T)
c.10841T>A (p.Met3614Lys)
c.10913T>A (p.Met3638Lys)
c.3833T>A (p.Met1278Lys)
n.189T>A
c.329T>A (p.Met110Lys)
n.2919T>A
c.5486T>A (p.Met1829Lys)
c.*1721T>A (n.*1721T>A)
c.10817T>A (p.Met3606Lys)
n.11039T>A
c.10787T>A (p.Met3596Lys)
c.10583T>A (p.Met3528Lys)
n.12511T>A
c.10664T>A (p.Met3555Lys)
c.10748T>A (p.Met3583Lys)
c.4480T>A (n.4480T>A)
c.10700T>A (p.Met3567Lys)
c.10880T>A (p.Met3627Lys)
c.4601T>A (n.4601T>A)
c.10850T>A (p.Met3617Lys)
c.4379T>A (p.Met1460Lys)
n.2591T>A
n.641T>A
c.10988T>A (p.Met3663Lys)
c.11012T>A (p.Met3671Lys)
c.10952T>A (p.Met3651Lys)
c.10949T>A (p.Met3650Lys)
c.10934T>A (p.Met3645Lys)
c.10973T>A (p.Met3658Lys)
c.10892T>A (p.Met3631Lys)
c.10847T>A (p.Met3616Lys)
c.10877T>A (p.Met3626Lys)
c.10853T>A (p.Met3618Lys)
c.5501T>A (p.Met1834Lys)
c.5462T>A (p.Met1821Lys)
c.10976T>A (p.Met3659Lys)
c.10937T>A (p.Met3646Lys)
c.10922T>A (p.Met3641Lys)
c.10883T>A (p.Met3628Lys)
c.10835T>A (p.Met3612Lys)
c.10604T>A (p.Met3535Lys)
c.6641T>A (p.Met2214Lys)
c.5525T>A (p.Met1842Lys)
c.10739T>A (p.Met3580Lys)
 dbSNP
7g.92099814T>CCA368158867AKAP9,CYP51A1c.1352-14212A>G (n.1352-14212A>G)
c.10841T>C (p.Met3614Thr)
c.10913T>C (p.Met3638Thr)
c.3833T>C (p.Met1278Thr)
n.189T>C
c.329T>C (p.Met110Thr)
n.2919T>C
c.5486T>C (p.Met1829Thr)
c.*1721T>C (n.*1721T>C)
c.10817T>C (p.Met3606Thr)
n.11039T>C
c.10787T>C (p.Met3596Thr)
c.10583T>C (p.Met3528Thr)
n.12511T>C
c.10664T>C (p.Met3555Thr)
c.10748T>C (p.Met3583Thr)
c.4480T>C (n.4480T>C)
c.10700T>C (p.Met3567Thr)
c.10880T>C (p.Met3627Thr)
c.4601T>C (n.4601T>C)
c.10850T>C (p.Met3617Thr)
c.4379T>C (p.Met1460Thr)
n.2591T>C
n.641T>C
c.10988T>C (p.Met3663Thr)
c.11012T>C (p.Met3671Thr)
c.10952T>C (p.Met3651Thr)
c.10949T>C (p.Met3650Thr)
c.10934T>C (p.Met3645Thr)
c.10973T>C (p.Met3658Thr)
c.10892T>C (p.Met3631Thr)
c.10847T>C (p.Met3616Thr)
c.10877T>C (p.Met3626Thr)
c.10853T>C (p.Met3618Thr)
c.5501T>C (p.Met1834Thr)
c.5462T>C (p.Met1821Thr)
c.10976T>C (p.Met3659Thr)
c.10937T>C (p.Met3646Thr)
c.10922T>C (p.Met3641Thr)
c.10883T>C (p.Met3628Thr)
c.10835T>C (p.Met3612Thr)
c.10604T>C (p.Met3535Thr)
c.6641T>C (p.Met2214Thr)
c.5525T>C (p.Met1842Thr)
c.10739T>C (p.Met3580Thr)
 ClinVar
7g.92099814T>GCA368158868AKAP9,CYP51A1c.1352-14212A>C (n.1352-14212A>C)
c.10841T>G (p.Met3614Arg)
c.10913T>G (p.Met3638Arg)
c.3833T>G (p.Met1278Arg)
n.189T>G
c.329T>G (p.Met110Arg)
n.2919T>G
c.5486T>G (p.Met1829Arg)
c.*1721T>G (n.*1721T>G)
c.10817T>G (p.Met3606Arg)
n.11039T>G
c.10787T>G (p.Met3596Arg)
c.10583T>G (p.Met3528Arg)
n.12511T>G
c.10664T>G (p.Met3555Arg)
c.10748T>G (p.Met3583Arg)
c.4480T>G (n.4480T>G)
c.10700T>G (p.Met3567Arg)
c.10880T>G (p.Met3627Arg)
c.4601T>G (n.4601T>G)
c.10850T>G (p.Met3617Arg)
c.4379T>G (p.Met1460Arg)
n.2591T>G
n.641T>G
c.10988T>G (p.Met3663Arg)
c.11012T>G (p.Met3671Arg)
c.10952T>G (p.Met3651Arg)
c.10949T>G (p.Met3650Arg)
c.10934T>G (p.Met3645Arg)
c.10973T>G (p.Met3658Arg)
c.10892T>G (p.Met3631Arg)
c.10847T>G (p.Met3616Arg)
c.10877T>G (p.Met3626Arg)
c.10853T>G (p.Met3618Arg)
c.5501T>G (p.Met1834Arg)
c.5462T>G (p.Met1821Arg)
c.10976T>G (p.Met3659Arg)
c.10937T>G (p.Met3646Arg)
c.10922T>G (p.Met3641Arg)
c.10883T>G (p.Met3628Arg)
c.10835T>G (p.Met3612Arg)
c.10604T>G (p.Met3535Arg)
c.6641T>G (p.Met2214Arg)
c.5525T>G (p.Met1842Arg)
c.10739T>G (p.Met3580Arg)
7g.92099814T=CA1725766465AKAP9,CYP51A1c.1352-14212A= (n.1352-14212A=)
c.10841T= (p.Met3614=)
c.10913T= (p.Met3638=)
c.3833T= (p.Met1278=)
n.189T=
c.329T= (p.Met110=)
n.2919T=
c.5486T= (p.Met1829=)
c.*1721T= (n.*1721T=)
c.10817T= (p.Met3606=)
n.11039T=
c.10787T= (p.Met3596=)
c.10583T= (p.Met3528=)
n.12511T=
c.10664T= (p.Met3555=)
c.10748T= (p.Met3583=)
c.4480T= (n.4480T=)
c.10700T= (p.Met3567=)
c.10880T= (p.Met3627=)
c.4601T= (n.4601T=)
c.10850T= (p.Met3617=)
c.4379T= (p.Met1460=)
n.2591T=
n.641T=
c.10988T= (p.Met3663=)
c.11012T= (p.Met3671=)
c.10952T= (p.Met3651=)
c.10949T= (p.Met3650=)
c.10934T= (p.Met3645=)
c.10973T= (p.Met3658=)
c.10892T= (p.Met3631=)
c.10847T= (p.Met3616=)
c.10877T= (p.Met3626=)
c.10853T= (p.Met3618=)
c.5501T= (p.Met1834=)
c.5462T= (p.Met1821=)
c.10976T= (p.Met3659=)
c.10937T= (p.Met3646=)
c.10922T= (p.Met3641=)
c.10883T= (p.Met3628=)
c.10835T= (p.Met3612=)
c.10604T= (p.Met3535=)
c.6641T= (p.Met2214=)
c.5525T= (p.Met1842=)
c.10739T= (p.Met3580=)
7g.92099815G>ACA368158869AKAP9,CYP51A1c.1352-14213C>T (n.1352-14213C>T)
c.10842G>A (p.Met3614Ile)
c.10914G>A (p.Met3638Ile)
c.3834G>A (p.Met1278Ile)
n.190G>A
c.330G>A (p.Met110Ile)
n.2920G>A
c.5487G>A (p.Met1829Ile)
c.*1722G>A (n.*1722G>A)
c.10818G>A (p.Met3606Ile)
n.11040G>A
c.10788G>A (p.Met3596Ile)
c.10584G>A (p.Met3528Ile)
n.12512G>A
c.10665G>A (p.Met3555Ile)
c.10749G>A (p.Met3583Ile)
c.4481G>A (n.4481G>A)
c.10701G>A (p.Met3567Ile)
c.10881G>A (p.Met3627Ile)
c.4602G>A (n.4602G>A)
c.10851G>A (p.Met3617Ile)
c.4380G>A (p.Met1460Ile)
n.2592G>A
n.642G>A
c.10989G>A (p.Met3663Ile)
c.11013G>A (p.Met3671Ile)
c.10953G>A (p.Met3651Ile)
c.10950G>A (p.Met3650Ile)
c.10935G>A (p.Met3645Ile)
c.10974G>A (p.Met3658Ile)
c.10893G>A (p.Met3631Ile)
c.10848G>A (p.Met3616Ile)
c.10878G>A (p.Met3626Ile)
c.10854G>A (p.Met3618Ile)
c.5502G>A (p.Met1834Ile)
c.5463G>A (p.Met1821Ile)
c.10977G>A (p.Met3659Ile)
c.10938G>A (p.Met3646Ile)
c.10923G>A (p.Met3641Ile)
c.10884G>A (p.Met3628Ile)
c.10836G>A (p.Met3612Ile)
c.10605G>A (p.Met3535Ile)
c.6642G>A (p.Met2214Ile)
c.5526G>A (p.Met1842Ile)
c.10740G>A (p.Met3580Ile)
7g.92099815G>CCA368158873AKAP9,CYP51A1c.1352-14213C>G (n.1352-14213C>G)
c.10842G>C (p.Met3614Ile)
c.10914G>C (p.Met3638Ile)
c.3834G>C (p.Met1278Ile)
n.190G>C
c.330G>C (p.Met110Ile)
n.2920G>C
c.5487G>C (p.Met1829Ile)
c.*1722G>C (n.*1722G>C)
c.10818G>C (p.Met3606Ile)
n.11040G>C
c.10788G>C (p.Met3596Ile)
c.10584G>C (p.Met3528Ile)
n.12512G>C
c.10665G>C (p.Met3555Ile)
c.10749G>C (p.Met3583Ile)
c.4481G>C (n.4481G>C)
c.10701G>C (p.Met3567Ile)
c.10881G>C (p.Met3627Ile)
c.4602G>C (n.4602G>C)
c.10851G>C (p.Met3617Ile)
c.4380G>C (p.Met1460Ile)
n.2592G>C
n.642G>C
c.10989G>C (p.Met3663Ile)
c.11013G>C (p.Met3671Ile)
c.10953G>C (p.Met3651Ile)
c.10950G>C (p.Met3650Ile)
c.10935G>C (p.Met3645Ile)
c.10974G>C (p.Met3658Ile)
c.10893G>C (p.Met3631Ile)
c.10848G>C (p.Met3616Ile)
c.10878G>C (p.Met3626Ile)
c.10854G>C (p.Met3618Ile)
c.5502G>C (p.Met1834Ile)
c.5463G>C (p.Met1821Ile)
c.10977G>C (p.Met3659Ile)
c.10938G>C (p.Met3646Ile)
c.10923G>C (p.Met3641Ile)
c.10884G>C (p.Met3628Ile)
c.10836G>C (p.Met3612Ile)
c.10605G>C (p.Met3535Ile)
c.6642G>C (p.Met2214Ile)
c.5526G>C (p.Met1842Ile)
c.10740G>C (p.Met3580Ile)
7g.92099815G>TCA368158872AKAP9,CYP51A1c.1352-14213C>A (n.1352-14213C>A)
c.10842G>T (p.Met3614Ile)
c.10914G>T (p.Met3638Ile)
c.3834G>T (p.Met1278Ile)
n.190G>T
c.330G>T (p.Met110Ile)
n.2920G>T
c.5487G>T (p.Met1829Ile)
c.*1722G>T (n.*1722G>T)
c.10818G>T (p.Met3606Ile)
n.11040G>T
c.10788G>T (p.Met3596Ile)
c.10584G>T (p.Met3528Ile)
n.12512G>T
c.10665G>T (p.Met3555Ile)
c.10749G>T (p.Met3583Ile)
c.4481G>T (n.4481G>T)
c.10701G>T (p.Met3567Ile)
c.10881G>T (p.Met3627Ile)
c.4602G>T (n.4602G>T)
c.10851G>T (p.Met3617Ile)
c.4380G>T (p.Met1460Ile)
n.2592G>T
n.642G>T
c.10989G>T (p.Met3663Ile)
c.11013G>T (p.Met3671Ile)
c.10953G>T (p.Met3651Ile)
c.10950G>T (p.Met3650Ile)
c.10935G>T (p.Met3645Ile)
c.10974G>T (p.Met3658Ile)
c.10893G>T (p.Met3631Ile)
c.10848G>T (p.Met3616Ile)
c.10878G>T (p.Met3626Ile)
c.10854G>T (p.Met3618Ile)
c.5502G>T (p.Met1834Ile)
c.5463G>T (p.Met1821Ile)
c.10977G>T (p.Met3659Ile)
c.10938G>T (p.Met3646Ile)
c.10923G>T (p.Met3641Ile)
c.10884G>T (p.Met3628Ile)
c.10836G>T (p.Met3612Ile)
c.10605G>T (p.Met3535Ile)
c.6642G>T (p.Met2214Ile)
c.5526G>T (p.Met1842Ile)
c.10740G>T (p.Met3580Ile)
7g.92099816A>CCA368158875AKAP9,CYP51A1c.1352-14214T>G (n.1352-14214T>G)
c.10843A>C (p.Lys3615Gln)
c.10915A>C (p.Lys3639Gln)
c.3835A>C (p.Lys1279Gln)
n.191A>C
c.331A>C (p.Lys111Gln)
n.2921A>C
c.5488A>C (p.Lys1830Gln)
c.*1723A>C (n.*1723A>C)
c.10819A>C (p.Lys3607Gln)
n.11041A>C
c.10789A>C (p.Lys3597Gln)
c.10585A>C (p.Lys3529Gln)
n.12513A>C
c.10666A>C (p.Lys3556Gln)
c.10750A>C (p.Lys3584Gln)
c.4482A>C (n.4482A>C)
c.10702A>C (p.Lys3568Gln)
c.10882A>C (p.Lys3628Gln)
c.4603A>C (n.4603A>C)
c.10852A>C (p.Lys3618Gln)
c.4381A>C (p.Lys1461Gln)
n.2593A>C
n.643A>C
c.10990A>C (p.Lys3664Gln)
c.11014A>C (p.Lys3672Gln)
c.10954A>C (p.Lys3652Gln)
c.10951A>C (p.Lys3651Gln)
c.10936A>C (p.Lys3646Gln)
c.10975A>C (p.Lys3659Gln)
c.10894A>C (p.Lys3632Gln)
c.10849A>C (p.Lys3617Gln)
c.10879A>C (p.Lys3627Gln)
c.10855A>C (p.Lys3619Gln)
c.5503A>C (p.Lys1835Gln)
c.5464A>C (p.Lys1822Gln)
c.10978A>C (p.Lys3660Gln)
c.10939A>C (p.Lys3647Gln)
c.10924A>C (p.Lys3642Gln)
c.10885A>C (p.Lys3629Gln)
c.10837A>C (p.Lys3613Gln)
c.10606A>C (p.Lys3536Gln)
c.6643A>C (p.Lys2215Gln)
c.5527A>C (p.Lys1843Gln)
c.10741A>C (p.Lys3581Gln)
7g.92099816A>GCA368158876AKAP9,CYP51A1c.1352-14214T>C (n.1352-14214T>C)
c.10843A>G (p.Lys3615Glu)
c.10915A>G (p.Lys3639Glu)
c.3835A>G (p.Lys1279Glu)
n.191A>G
c.331A>G (p.Lys111Glu)
n.2921A>G
c.5488A>G (p.Lys1830Glu)
c.*1723A>G (n.*1723A>G)
c.10819A>G (p.Lys3607Glu)
n.11041A>G
c.10789A>G (p.Lys3597Glu)
c.10585A>G (p.Lys3529Glu)
n.12513A>G
c.10666A>G (p.Lys3556Glu)
c.10750A>G (p.Lys3584Glu)
c.4482A>G (n.4482A>G)
c.10702A>G (p.Lys3568Glu)
c.10882A>G (p.Lys3628Glu)
c.4603A>G (n.4603A>G)
c.10852A>G (p.Lys3618Glu)
c.4381A>G (p.Lys1461Glu)
n.2593A>G
n.643A>G
c.10990A>G (p.Lys3664Glu)
c.11014A>G (p.Lys3672Glu)
c.10954A>G (p.Lys3652Glu)
c.10951A>G (p.Lys3651Glu)
c.10936A>G (p.Lys3646Glu)
c.10975A>G (p.Lys3659Glu)
c.10894A>G (p.Lys3632Glu)
c.10849A>G (p.Lys3617Glu)
c.10879A>G (p.Lys3627Glu)
c.10855A>G (p.Lys3619Glu)
c.5503A>G (p.Lys1835Glu)
c.5464A>G (p.Lys1822Glu)
c.10978A>G (p.Lys3660Glu)
c.10939A>G (p.Lys3647Glu)
c.10924A>G (p.Lys3642Glu)
c.10885A>G (p.Lys3629Glu)
c.10837A>G (p.Lys3613Glu)
c.10606A>G (p.Lys3536Glu)
c.6643A>G (p.Lys2215Glu)
c.5527A>G (p.Lys1843Glu)
c.10741A>G (p.Lys3581Glu)
7g.92099816A>TCA368158878AKAP9,CYP51A1c.1352-14214T>A (n.1352-14214T>A)
c.10843A>T (p.Lys3615Ter)
c.10915A>T (p.Lys3639Ter)
c.3835A>T (p.Lys1279Ter)
n.191A>T
c.331A>T (p.Lys111Ter)
n.2921A>T
c.5488A>T (p.Lys1830Ter)
c.*1723A>T (n.*1723A>T)
c.10819A>T (p.Lys3607Ter)
n.11041A>T
c.10789A>T (p.Lys3597Ter)
c.10585A>T (p.Lys3529Ter)
n.12513A>T
c.10666A>T (p.Lys3556Ter)
c.10750A>T (p.Lys3584Ter)
c.4482A>T (n.4482A>T)
c.10702A>T (p.Lys3568Ter)
c.10882A>T (p.Lys3628Ter)
c.4603A>T (n.4603A>T)
c.10852A>T (p.Lys3618Ter)
c.4381A>T (p.Lys1461Ter)
n.2593A>T
n.643A>T
c.10990A>T (p.Lys3664Ter)
c.11014A>T (p.Lys3672Ter)
c.10954A>T (p.Lys3652Ter)
c.10951A>T (p.Lys3651Ter)
c.10936A>T (p.Lys3646Ter)
c.10975A>T (p.Lys3659Ter)
c.10894A>T (p.Lys3632Ter)
c.10849A>T (p.Lys3617Ter)
c.10879A>T (p.Lys3627Ter)
c.10855A>T (p.Lys3619Ter)
c.5503A>T (p.Lys1835Ter)
c.5464A>T (p.Lys1822Ter)
c.10978A>T (p.Lys3660Ter)
c.10939A>T (p.Lys3647Ter)
c.10924A>T (p.Lys3642Ter)
c.10885A>T (p.Lys3629Ter)
c.10837A>T (p.Lys3613Ter)
c.10606A>T (p.Lys3536Ter)
c.6643A>T (p.Lys2215Ter)
c.5527A>T (p.Lys1843Ter)
c.10741A>T (p.Lys3581Ter)
7g.92099817A>CCA368158880AKAP9,CYP51A1c.1352-14215T>G (n.1352-14215T>G)
c.10844A>C (p.Lys3615Thr)
c.10916A>C (p.Lys3639Thr)
c.3836A>C (p.Lys1279Thr)
n.192A>C
c.332A>C (p.Lys111Thr)
n.2922A>C
c.5489A>C (p.Lys1830Thr)
c.*1724A>C (n.*1724A>C)
c.10820A>C (p.Lys3607Thr)
n.11042A>C
c.10790A>C (p.Lys3597Thr)
c.10586A>C (p.Lys3529Thr)
n.12514A>C
c.10667A>C (p.Lys3556Thr)
c.10751A>C (p.Lys3584Thr)
c.4483A>C (n.4483A>C)
c.10703A>C (p.Lys3568Thr)
c.10883A>C (p.Lys3628Thr)
c.4604A>C (n.4604A>C)
c.10853A>C (p.Lys3618Thr)
c.4382A>C (p.Lys1461Thr)
n.2594A>C
n.644A>C
c.10991A>C (p.Lys3664Thr)
c.11015A>C (p.Lys3672Thr)
c.10955A>C (p.Lys3652Thr)
c.10952A>C (p.Lys3651Thr)
c.10937A>C (p.Lys3646Thr)
c.10976A>C (p.Lys3659Thr)
c.10895A>C (p.Lys3632Thr)
c.10850A>C (p.Lys3617Thr)
c.10880A>C (p.Lys3627Thr)
c.10856A>C (p.Lys3619Thr)
c.5504A>C (p.Lys1835Thr)
c.5465A>C (p.Lys1822Thr)
c.10979A>C (p.Lys3660Thr)
c.10940A>C (p.Lys3647Thr)
c.10925A>C (p.Lys3642Thr)
c.10886A>C (p.Lys3629Thr)
c.10838A>C (p.Lys3613Thr)
c.10607A>C (p.Lys3536Thr)
c.6644A>C (p.Lys2215Thr)
c.5528A>C (p.Lys1843Thr)
c.10742A>C (p.Lys3581Thr)
7g.92099817A>GCA368158882AKAP9,CYP51A1c.1352-14215T>C (n.1352-14215T>C)
c.10844A>G (p.Lys3615Arg)
c.10916A>G (p.Lys3639Arg)
c.3836A>G (p.Lys1279Arg)
n.192A>G
c.332A>G (p.Lys111Arg)
n.2922A>G
c.5489A>G (p.Lys1830Arg)
c.*1724A>G (n.*1724A>G)
c.10820A>G (p.Lys3607Arg)
n.11042A>G
c.10790A>G (p.Lys3597Arg)
c.10586A>G (p.Lys3529Arg)
n.12514A>G
c.10667A>G (p.Lys3556Arg)
c.10751A>G (p.Lys3584Arg)
c.4483A>G (n.4483A>G)
c.10703A>G (p.Lys3568Arg)
c.10883A>G (p.Lys3628Arg)
c.4604A>G (n.4604A>G)
c.10853A>G (p.Lys3618Arg)
c.4382A>G (p.Lys1461Arg)
n.2594A>G
n.644A>G
c.10991A>G (p.Lys3664Arg)
c.11015A>G (p.Lys3672Arg)
c.10955A>G (p.Lys3652Arg)
c.10952A>G (p.Lys3651Arg)
c.10937A>G (p.Lys3646Arg)
c.10976A>G (p.Lys3659Arg)
c.10895A>G (p.Lys3632Arg)
c.10850A>G (p.Lys3617Arg)
c.10880A>G (p.Lys3627Arg)
c.10856A>G (p.Lys3619Arg)
c.5504A>G (p.Lys1835Arg)
c.5465A>G (p.Lys1822Arg)
c.10979A>G (p.Lys3660Arg)
c.10940A>G (p.Lys3647Arg)
c.10925A>G (p.Lys3642Arg)
c.10886A>G (p.Lys3629Arg)
c.10838A>G (p.Lys3613Arg)
c.10607A>G (p.Lys3536Arg)
c.6644A>G (p.Lys2215Arg)
c.5528A>G (p.Lys1843Arg)
c.10742A>G (p.Lys3581Arg)
7g.92099817A>TCA368158883AKAP9,CYP51A1c.1352-14215T>A (n.1352-14215T>A)
c.10844A>T (p.Lys3615Met)
c.10916A>T (p.Lys3639Met)
c.3836A>T (p.Lys1279Met)
n.192A>T
c.332A>T (p.Lys111Met)
n.2922A>T
c.5489A>T (p.Lys1830Met)
c.*1724A>T (n.*1724A>T)
c.10820A>T (p.Lys3607Met)
n.11042A>T
c.10790A>T (p.Lys3597Met)
c.10586A>T (p.Lys3529Met)
n.12514A>T
c.10667A>T (p.Lys3556Met)
c.10751A>T (p.Lys3584Met)
c.4483A>T (n.4483A>T)
c.10703A>T (p.Lys3568Met)
c.10883A>T (p.Lys3628Met)
c.4604A>T (n.4604A>T)
c.10853A>T (p.Lys3618Met)
c.4382A>T (p.Lys1461Met)
n.2594A>T
n.644A>T
c.10991A>T (p.Lys3664Met)
c.11015A>T (p.Lys3672Met)
c.10955A>T (p.Lys3652Met)
c.10952A>T (p.Lys3651Met)
c.10937A>T (p.Lys3646Met)
c.10976A>T (p.Lys3659Met)
c.10895A>T (p.Lys3632Met)
c.10850A>T (p.Lys3617Met)
c.10880A>T (p.Lys3627Met)
c.10856A>T (p.Lys3619Met)
c.5504A>T (p.Lys1835Met)
c.5465A>T (p.Lys1822Met)
c.10979A>T (p.Lys3660Met)
c.10940A>T (p.Lys3647Met)
c.10925A>T (p.Lys3642Met)
c.10886A>T (p.Lys3629Met)
c.10838A>T (p.Lys3613Met)
c.10607A>T (p.Lys3536Met)
c.6644A>T (p.Lys2215Met)
c.5528A>T (p.Lys1843Met)
c.10742A>T (p.Lys3581Met)
7g.92099818G>ACA4338031AKAP9,CYP51A1c.1352-14216C>T (n.1352-14216C>T)
c.10845G>A (p.Lys3615=)
c.10917G>A (p.Lys3639=)
c.3837G>A (p.Lys1279=)
n.193G>A
c.333G>A (p.Lys111=)
n.2923G>A
c.5490G>A (p.Lys1830=)
c.*1725G>A (n.*1725G>A)
c.10821G>A (p.Lys3607=)
n.11043G>A
c.10791G>A (p.Lys3597=)
c.10587G>A (p.Lys3529=)
n.12515G>A
c.10668G>A (p.Lys3556=)
c.10752G>A (p.Lys3584=)
c.4484G>A (n.4484G>A)
c.10704G>A (p.Lys3568=)
c.10884G>A (p.Lys3628=)
c.4605G>A (n.4605G>A)
c.10854G>A (p.Lys3618=)
c.4383G>A (p.Lys1461=)
n.2595G>A
n.645G>A
c.10992G>A (p.Lys3664=)
c.11016G>A (p.Lys3672=)
c.10956G>A (p.Lys3652=)
c.10953G>A (p.Lys3651=)
c.10938G>A (p.Lys3646=)
c.10977G>A (p.Lys3659=)
c.10896G>A (p.Lys3632=)
c.10851G>A (p.Lys3617=)
c.10881G>A (p.Lys3627=)
c.10857G>A (p.Lys3619=)
c.5505G>A (p.Lys1835=)
c.5466G>A (p.Lys1822=)
c.10980G>A (p.Lys3660=)
c.10941G>A (p.Lys3647=)
c.10926G>A (p.Lys3642=)
c.10887G>A (p.Lys3629=)
c.10839G>A (p.Lys3613=)
c.10608G>A (p.Lys3536=)
c.6645G>A (p.Lys2215=)
c.5529G>A (p.Lys1843=)
c.10743G>A (p.Lys3581=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.92099818G>CCA368158886AKAP9,CYP51A1c.1352-14216C>G (n.1352-14216C>G)
c.10845G>C (p.Lys3615Asn)
c.10917G>C (p.Lys3639Asn)
c.3837G>C (p.Lys1279Asn)
n.193G>C
c.333G>C (p.Lys111Asn)
n.2923G>C
c.5490G>C (p.Lys1830Asn)
c.*1725G>C (n.*1725G>C)
c.10821G>C (p.Lys3607Asn)
n.11043G>C
c.10791G>C (p.Lys3597Asn)
c.10587G>C (p.Lys3529Asn)
n.12515G>C
c.10668G>C (p.Lys3556Asn)
c.10752G>C (p.Lys3584Asn)
c.4484G>C (n.4484G>C)
c.10704G>C (p.Lys3568Asn)
c.10884G>C (p.Lys3628Asn)
c.4605G>C (n.4605G>C)
c.10854G>C (p.Lys3618Asn)
c.4383G>C (p.Lys1461Asn)
n.2595G>C
n.645G>C
c.10992G>C (p.Lys3664Asn)
c.11016G>C (p.Lys3672Asn)
c.10956G>C (p.Lys3652Asn)
c.10953G>C (p.Lys3651Asn)
c.10938G>C (p.Lys3646Asn)
c.10977G>C (p.Lys3659Asn)
c.10896G>C (p.Lys3632Asn)
c.10851G>C (p.Lys3617Asn)
c.10881G>C (p.Lys3627Asn)
c.10857G>C (p.Lys3619Asn)
c.5505G>C (p.Lys1835Asn)
c.5466G>C (p.Lys1822Asn)
c.10980G>C (p.Lys3660Asn)
c.10941G>C (p.Lys3647Asn)
c.10926G>C (p.Lys3642Asn)
c.10887G>C (p.Lys3629Asn)
c.10839G>C (p.Lys3613Asn)
c.10608G>C (p.Lys3536Asn)
c.6645G>C (p.Lys2215Asn)
c.5529G>C (p.Lys1843Asn)
c.10743G>C (p.Lys3581Asn)
7g.92099818G=CA1725766468AKAP9,CYP51A1c.1352-14216C= (n.1352-14216C=)
c.10845G= (p.Lys3615=)
c.10917G= (p.Lys3639=)
c.3837G= (p.Lys1279=)
n.193G=
c.333G= (p.Lys111=)
n.2923G=
c.5490G= (p.Lys1830=)
c.*1725G= (n.*1725G=)
c.10821G= (p.Lys3607=)
n.11043G=
c.10791G= (p.Lys3597=)
c.10587G= (p.Lys3529=)
n.12515G=
c.10668G= (p.Lys3556=)
c.10752G= (p.Lys3584=)
c.4484G= (n.4484G=)
c.10704G= (p.Lys3568=)
c.10884G= (p.Lys3628=)
c.4605G= (n.4605G=)
c.10854G= (p.Lys3618=)
c.4383G= (p.Lys1461=)
n.2595G=
n.645G=
c.10992G= (p.Lys3664=)
c.11016G= (p.Lys3672=)
c.10956G= (p.Lys3652=)
c.10953G= (p.Lys3651=)
c.10938G= (p.Lys3646=)
c.10977G= (p.Lys3659=)
c.10896G= (p.Lys3632=)
c.10851G= (p.Lys3617=)
c.10881G= (p.Lys3627=)
c.10857G= (p.Lys3619=)
c.5505G= (p.Lys1835=)
c.5466G= (p.Lys1822=)
c.10980G= (p.Lys3660=)
c.10941G= (p.Lys3647=)
c.10926G= (p.Lys3642=)
c.10887G= (p.Lys3629=)
c.10839G= (p.Lys3613=)
c.10608G= (p.Lys3536=)
c.6645G= (p.Lys2215=)
c.5529G= (p.Lys1843=)
c.10743G= (p.Lys3581=)
7g.92099818G>TCA368158887AKAP9,CYP51A1c.1352-14216C>A (n.1352-14216C>A)
c.10845G>T (p.Lys3615Asn)
c.10917G>T (p.Lys3639Asn)
c.3837G>T (p.Lys1279Asn)
n.193G>T
c.333G>T (p.Lys111Asn)
n.2923G>T
c.5490G>T (p.Lys1830Asn)
c.*1725G>T (n.*1725G>T)
c.10821G>T (p.Lys3607Asn)
n.11043G>T
c.10791G>T (p.Lys3597Asn)
c.10587G>T (p.Lys3529Asn)
n.12515G>T
c.10668G>T (p.Lys3556Asn)
c.10752G>T (p.Lys3584Asn)
c.4484G>T (n.4484G>T)
c.10704G>T (p.Lys3568Asn)
c.10884G>T (p.Lys3628Asn)
c.4605G>T (n.4605G>T)
c.10854G>T (p.Lys3618Asn)
c.4383G>T (p.Lys1461Asn)
n.2595G>T
n.645G>T
c.10992G>T (p.Lys3664Asn)
c.11016G>T (p.Lys3672Asn)
c.10956G>T (p.Lys3652Asn)
c.10953G>T (p.Lys3651Asn)
c.10938G>T (p.Lys3646Asn)
c.10977G>T (p.Lys3659Asn)
c.10896G>T (p.Lys3632Asn)
c.10851G>T (p.Lys3617Asn)
c.10881G>T (p.Lys3627Asn)
c.10857G>T (p.Lys3619Asn)
c.5505G>T (p.Lys1835Asn)
c.5466G>T (p.Lys1822Asn)
c.10980G>T (p.Lys3660Asn)
c.10941G>T (p.Lys3647Asn)
c.10926G>T (p.Lys3642Asn)
c.10887G>T (p.Lys3629Asn)
c.10839G>T (p.Lys3613Asn)
c.10608G>T (p.Lys3536Asn)
c.6645G>T (p.Lys2215Asn)
c.5529G>T (p.Lys1843Asn)
c.10743G>T (p.Lys3581Asn)
7g.92099819delCA2683693700AKAP9,CYP51A1c.1352-14217del (n.1352-14217del)
c.10846del (p.Leu3616TrpfsTer23)
c.10918del (p.Leu3640TrpfsTer23)
c.3838del (p.Leu1280TrpfsTer23)
n.194del
c.334del (p.Leu112TrpfsTer23)
n.2924del
c.5491del (p.Leu1831TrpfsTer23)
c.*1726del (n.*1726del)
c.10822del (p.Leu3608TrpfsTer23)
n.11044del
c.10792del (p.Leu3598TrpfsTer23)
c.10588del (p.Leu3530TrpfsTer23)
n.12516del
c.10669del (p.Leu3557TrpfsTer23)
c.10753del (p.Leu3585TrpfsTer23)
c.4485del (n.4485del)
c.10705del (p.Leu3569TrpfsTer23)
c.10885del (p.Leu3629TrpfsTer23)
c.4606del (n.4606del)
c.10855del (p.Leu3619TrpfsTer23)
c.4384del (p.Leu1462TrpfsTer23)
n.2596del
n.646del
c.10993del (p.Leu3665TrpfsTer23)
c.11017del (p.Leu3673TrpfsTer23)
c.10957del (p.Leu3653TrpfsTer23)
c.10954del (p.Leu3652TrpfsTer23)
c.10939del (p.Leu3647TrpfsTer23)
c.10978del (p.Leu3660TrpfsTer23)
c.10897del (p.Leu3633TrpfsTer23)
c.10852del (p.Leu3618TrpfsTer23)
c.10882del (p.Leu3628TrpfsTer23)
c.10858del (p.Leu3620TrpfsTer23)
c.5506del (p.Leu1836TrpfsTer23)
c.5467del (p.Leu1823TrpfsTer23)
c.10981del (p.Leu3661TrpfsTer23)
c.10942del (p.Leu3648TrpfsTer23)
c.10927del (p.Leu3643TrpfsTer23)
c.10888del (p.Leu3630TrpfsTer23)
c.10840del (p.Leu3614TrpfsTer23)
c.10609del (p.Leu3537TrpfsTer23)
c.6646del (p.Leu2216TrpfsTer23)
c.5530del (p.Leu1844TrpfsTer23)
c.10744del (p.Leu3582TrpfsTer23)
 gnomAD v4
7g.92099819C>ACA368158891AKAP9,CYP51A1c.1352-14217G>T (n.1352-14217G>T)
c.10846C>A (p.Leu3616Met)
c.10918C>A (p.Leu3640Met)
c.3838C>A (p.Leu1280Met)
n.194C>A
c.334C>A (p.Leu112Met)
n.2924C>A
c.5491C>A (p.Leu1831Met)
c.*1726C>A (n.*1726C>A)
c.10822C>A (p.Leu3608Met)
n.11044C>A
c.10792C>A (p.Leu3598Met)
c.10588C>A (p.Leu3530Met)
n.12516C>A
c.10669C>A (p.Leu3557Met)
c.10753C>A (p.Leu3585Met)
c.4485C>A (n.4485C>A)
c.10705C>A (p.Leu3569Met)
c.10885C>A (p.Leu3629Met)
c.4606C>A (n.4606C>A)
c.10855C>A (p.Leu3619Met)
c.4384C>A (p.Leu1462Met)
n.2596C>A
n.646C>A
c.10993C>A (p.Leu3665Met)
c.11017C>A (p.Leu3673Met)
c.10957C>A (p.Leu3653Met)
c.10954C>A (p.Leu3652Met)
c.10939C>A (p.Leu3647Met)
c.10978C>A (p.Leu3660Met)
c.10897C>A (p.Leu3633Met)
c.10852C>A (p.Leu3618Met)
c.10882C>A (p.Leu3628Met)
c.10858C>A (p.Leu3620Met)
c.5506C>A (p.Leu1836Met)
c.5467C>A (p.Leu1823Met)
c.10981C>A (p.Leu3661Met)
c.10942C>A (p.Leu3648Met)
c.10927C>A (p.Leu3643Met)
c.10888C>A (p.Leu3630Met)
c.10840C>A (p.Leu3614Met)
c.10609C>A (p.Leu3537Met)
c.6646C>A (p.Leu2216Met)
c.5530C>A (p.Leu1844Met)
c.10744C>A (p.Leu3582Met)
7g.92099819C>GCA368158889AKAP9,CYP51A1c.1352-14217G>C (n.1352-14217G>C)
c.10846C>G (p.Leu3616Val)
c.10918C>G (p.Leu3640Val)
c.3838C>G (p.Leu1280Val)
n.194C>G
c.334C>G (p.Leu112Val)
n.2924C>G
c.5491C>G (p.Leu1831Val)
c.*1726C>G (n.*1726C>G)
c.10822C>G (p.Leu3608Val)
n.11044C>G
c.10792C>G (p.Leu3598Val)
c.10588C>G (p.Leu3530Val)
n.12516C>G
c.10669C>G (p.Leu3557Val)
c.10753C>G (p.Leu3585Val)
c.4485C>G (n.4485C>G)
c.10705C>G (p.Leu3569Val)
c.10885C>G (p.Leu3629Val)
c.4606C>G (n.4606C>G)
c.10855C>G (p.Leu3619Val)
c.4384C>G (p.Leu1462Val)
n.2596C>G
n.646C>G
c.10993C>G (p.Leu3665Val)
c.11017C>G (p.Leu3673Val)
c.10957C>G (p.Leu3653Val)
c.10954C>G (p.Leu3652Val)
c.10939C>G (p.Leu3647Val)
c.10978C>G (p.Leu3660Val)
c.10897C>G (p.Leu3633Val)
c.10852C>G (p.Leu3618Val)
c.10882C>G (p.Leu3628Val)
c.10858C>G (p.Leu3620Val)
c.5506C>G (p.Leu1836Val)
c.5467C>G (p.Leu1823Val)
c.10981C>G (p.Leu3661Val)
c.10942C>G (p.Leu3648Val)
c.10927C>G (p.Leu3643Val)
c.10888C>G (p.Leu3630Val)
c.10840C>G (p.Leu3614Val)
c.10609C>G (p.Leu3537Val)
c.6646C>G (p.Leu2216Val)
c.5530C>G (p.Leu1844Val)
c.10744C>G (p.Leu3582Val)
7g.92099819C>TCA456454233AKAP9,CYP51A1c.1352-14217G>A (n.1352-14217G>A)
c.10846C>T (p.Leu3616=)
c.10918C>T (p.Leu3640=)
c.3838C>T (p.Leu1280=)
n.194C>T
c.334C>T (p.Leu112=)
n.2924C>T
c.5491C>T (p.Leu1831=)
c.*1726C>T (n.*1726C>T)
c.10822C>T (p.Leu3608=)
n.11044C>T
c.10792C>T (p.Leu3598=)
c.10588C>T (p.Leu3530=)
n.12516C>T
c.10669C>T (p.Leu3557=)
c.10753C>T (p.Leu3585=)
c.4485C>T (n.4485C>T)
c.10705C>T (p.Leu3569=)
c.10885C>T (p.Leu3629=)
c.4606C>T (n.4606C>T)
c.10855C>T (p.Leu3619=)
c.4384C>T (p.Leu1462=)
n.2596C>T
n.646C>T
c.10993C>T (p.Leu3665=)
c.11017C>T (p.Leu3673=)
c.10957C>T (p.Leu3653=)
c.10954C>T (p.Leu3652=)
c.10939C>T (p.Leu3647=)
c.10978C>T (p.Leu3660=)
c.10897C>T (p.Leu3633=)
c.10852C>T (p.Leu3618=)
c.10882C>T (p.Leu3628=)
c.10858C>T (p.Leu3620=)
c.5506C>T (p.Leu1836=)
c.5467C>T (p.Leu1823=)
c.10981C>T (p.Leu3661=)
c.10942C>T (p.Leu3648=)
c.10927C>T (p.Leu3643=)
c.10888C>T (p.Leu3630=)
c.10840C>T (p.Leu3614=)
c.10609C>T (p.Leu3537=)
c.6646C>T (p.Leu2216=)
c.5530C>T (p.Leu1844=)
c.10744C>T (p.Leu3582=)
7g.92099820T>ACA368158892AKAP9,CYP51A1c.1352-14218A>T (n.1352-14218A>T)
c.10847T>A (p.Leu3616Gln)
c.10919T>A (p.Leu3640Gln)
c.3839T>A (p.Leu1280Gln)
n.195T>A
c.335T>A (p.Leu112Gln)
n.2925T>A
c.5492T>A (p.Leu1831Gln)
c.*1727T>A (n.*1727T>A)
c.10823T>A (p.Leu3608Gln)
n.11045T>A
c.10793T>A (p.Leu3598Gln)
c.10589T>A (p.Leu3530Gln)
n.12517T>A
c.10670T>A (p.Leu3557Gln)
c.10754T>A (p.Leu3585Gln)
c.4486T>A (n.4486T>A)
c.10706T>A (p.Leu3569Gln)
c.10886T>A (p.Leu3629Gln)
c.4607T>A (n.4607T>A)
c.10856T>A (p.Leu3619Gln)
c.4385T>A (p.Leu1462Gln)
n.2597T>A
n.647T>A
c.10994T>A (p.Leu3665Gln)
c.11018T>A (p.Leu3673Gln)
c.10958T>A (p.Leu3653Gln)
c.10955T>A (p.Leu3652Gln)
c.10940T>A (p.Leu3647Gln)
c.10979T>A (p.Leu3660Gln)
c.10898T>A (p.Leu3633Gln)
c.10853T>A (p.Leu3618Gln)
c.10883T>A (p.Leu3628Gln)
c.10859T>A (p.Leu3620Gln)
c.5507T>A (p.Leu1836Gln)
c.5468T>A (p.Leu1823Gln)
c.10982T>A (p.Leu3661Gln)
c.10943T>A (p.Leu3648Gln)
c.10928T>A (p.Leu3643Gln)
c.10889T>A (p.Leu3630Gln)
c.10841T>A (p.Leu3614Gln)
c.10610T>A (p.Leu3537Gln)
c.6647T>A (p.Leu2216Gln)
c.5531T>A (p.Leu1844Gln)
c.10745T>A (p.Leu3582Gln)
7g.92099820T>CCA368158894AKAP9,CYP51A1c.1352-14218A>G (n.1352-14218A>G)
c.10847T>C (p.Leu3616Pro)
c.10919T>C (p.Leu3640Pro)
c.3839T>C (p.Leu1280Pro)
n.195T>C
c.335T>C (p.Leu112Pro)
n.2925T>C
c.5492T>C (p.Leu1831Pro)
c.*1727T>C (n.*1727T>C)
c.10823T>C (p.Leu3608Pro)
n.11045T>C
c.10793T>C (p.Leu3598Pro)
c.10589T>C (p.Leu3530Pro)
n.12517T>C
c.10670T>C (p.Leu3557Pro)
c.10754T>C (p.Leu3585Pro)
c.4486T>C (n.4486T>C)
c.10706T>C (p.Leu3569Pro)
c.10886T>C (p.Leu3629Pro)
c.4607T>C (n.4607T>C)
c.10856T>C (p.Leu3619Pro)
c.4385T>C (p.Leu1462Pro)
n.2597T>C
n.647T>C
c.10994T>C (p.Leu3665Pro)
c.11018T>C (p.Leu3673Pro)
c.10958T>C (p.Leu3653Pro)
c.10955T>C (p.Leu3652Pro)
c.10940T>C (p.Leu3647Pro)
c.10979T>C (p.Leu3660Pro)
c.10898T>C (p.Leu3633Pro)
c.10853T>C (p.Leu3618Pro)
c.10883T>C (p.Leu3628Pro)
c.10859T>C (p.Leu3620Pro)
c.5507T>C (p.Leu1836Pro)
c.5468T>C (p.Leu1823Pro)
c.10982T>C (p.Leu3661Pro)
c.10943T>C (p.Leu3648Pro)
c.10928T>C (p.Leu3643Pro)
c.10889T>C (p.Leu3630Pro)
c.10841T>C (p.Leu3614Pro)
c.10610T>C (p.Leu3537Pro)
c.6647T>C (p.Leu2216Pro)
c.5531T>C (p.Leu1844Pro)
c.10745T>C (p.Leu3582Pro)
7g.92099820T>GCA368158895AKAP9,CYP51A1c.1352-14218A>C (n.1352-14218A>C)
c.10847T>G (p.Leu3616Arg)
c.10919T>G (p.Leu3640Arg)
c.3839T>G (p.Leu1280Arg)
n.195T>G
c.335T>G (p.Leu112Arg)
n.2925T>G
c.5492T>G (p.Leu1831Arg)
c.*1727T>G (n.*1727T>G)
c.10823T>G (p.Leu3608Arg)
n.11045T>G
c.10793T>G (p.Leu3598Arg)
c.10589T>G (p.Leu3530Arg)
n.12517T>G
c.10670T>G (p.Leu3557Arg)
c.10754T>G (p.Leu3585Arg)
c.4486T>G (n.4486T>G)
c.10706T>G (p.Leu3569Arg)
c.10886T>G (p.Leu3629Arg)
c.4607T>G (n.4607T>G)
c.10856T>G (p.Leu3619Arg)
c.4385T>G (p.Leu1462Arg)
n.2597T>G
n.647T>G
c.10994T>G (p.Leu3665Arg)
c.11018T>G (p.Leu3673Arg)
c.10958T>G (p.Leu3653Arg)
c.10955T>G (p.Leu3652Arg)
c.10940T>G (p.Leu3647Arg)
c.10979T>G (p.Leu3660Arg)
c.10898T>G (p.Leu3633Arg)
c.10853T>G (p.Leu3618Arg)
c.10883T>G (p.Leu3628Arg)
c.10859T>G (p.Leu3620Arg)
c.5507T>G (p.Leu1836Arg)
c.5468T>G (p.Leu1823Arg)
c.10982T>G (p.Leu3661Arg)
c.10943T>G (p.Leu3648Arg)
c.10928T>G (p.Leu3643Arg)
c.10889T>G (p.Leu3630Arg)
c.10841T>G (p.Leu3614Arg)
c.10610T>G (p.Leu3537Arg)
c.6647T>G (p.Leu2216Arg)
c.5531T>G (p.Leu1844Arg)
c.10745T>G (p.Leu3582Arg)
7g.92099821G>ACA456454235AKAP9,CYP51A1c.1352-14219C>T (n.1352-14219C>T)
c.10848G>A (p.Leu3616=)
c.10920G>A (p.Leu3640=)
c.3840G>A (p.Leu1280=)
n.196G>A
c.336G>A (p.Leu112=)
n.2926G>A
c.5493G>A (p.Leu1831=)
c.*1728G>A (n.*1728G>A)
c.10824G>A (p.Leu3608=)
n.11046G>A
c.10794G>A (p.Leu3598=)
c.10590G>A (p.Leu3530=)
n.12518G>A
c.10671G>A (p.Leu3557=)
c.10755G>A (p.Leu3585=)
c.4487G>A (n.4487G>A)
c.10707G>A (p.Leu3569=)
c.10887G>A (p.Leu3629=)
c.4608G>A (n.4608G>A)
c.10857G>A (p.Leu3619=)
c.4386G>A (p.Leu1462=)
n.2598G>A
n.648G>A
c.10995G>A (p.Leu3665=)
c.11019G>A (p.Leu3673=)
c.10959G>A (p.Leu3653=)
c.10956G>A (p.Leu3652=)
c.10941G>A (p.Leu3647=)
c.10980G>A (p.Leu3660=)
c.10899G>A (p.Leu3633=)
c.10854G>A (p.Leu3618=)
c.10884G>A (p.Leu3628=)
c.10860G>A (p.Leu3620=)
c.5508G>A (p.Leu1836=)
c.5469G>A (p.Leu1823=)
c.10983G>A (p.Leu3661=)
c.10944G>A (p.Leu3648=)
c.10929G>A (p.Leu3643=)
c.10890G>A (p.Leu3630=)
c.10842G>A (p.Leu3614=)
c.10611G>A (p.Leu3537=)
c.6648G>A (p.Leu2216=)
c.5532G>A (p.Leu1844=)
c.10746G>A (p.Leu3582=)
 dbSNP gnomAD v2 gnomAD v4
7g.92099821G>CCA456454236AKAP9,CYP51A1c.1352-14219C>G (n.1352-14219C>G)
c.10848G>C (p.Leu3616=)
c.10920G>C (p.Leu3640=)
c.3840G>C (p.Leu1280=)
n.196G>C
c.336G>C (p.Leu112=)
n.2926G>C
c.5493G>C (p.Leu1831=)
c.*1728G>C (n.*1728G>C)
c.10824G>C (p.Leu3608=)
n.11046G>C
c.10794G>C (p.Leu3598=)
c.10590G>C (p.Leu3530=)
n.12518G>C
c.10671G>C (p.Leu3557=)
c.10755G>C (p.Leu3585=)
c.4487G>C (n.4487G>C)
c.10707G>C (p.Leu3569=)
c.10887G>C (p.Leu3629=)
c.4608G>C (n.4608G>C)
c.10857G>C (p.Leu3619=)
c.4386G>C (p.Leu1462=)
n.2598G>C
n.648G>C
c.10995G>C (p.Leu3665=)
c.11019G>C (p.Leu3673=)
c.10959G>C (p.Leu3653=)
c.10956G>C (p.Leu3652=)
c.10941G>C (p.Leu3647=)
c.10980G>C (p.Leu3660=)
c.10899G>C (p.Leu3633=)
c.10854G>C (p.Leu3618=)
c.10884G>C (p.Leu3628=)
c.10860G>C (p.Leu3620=)
c.5508G>C (p.Leu1836=)
c.5469G>C (p.Leu1823=)
c.10983G>C (p.Leu3661=)
c.10944G>C (p.Leu3648=)
c.10929G>C (p.Leu3643=)
c.10890G>C (p.Leu3630=)
c.10842G>C (p.Leu3614=)
c.10611G>C (p.Leu3537=)
c.6648G>C (p.Leu2216=)
c.5532G>C (p.Leu1844=)
c.10746G>C (p.Leu3582=)
7g.92099821G=CA1725766478AKAP9,CYP51A1c.1352-14219C= (n.1352-14219C=)
c.10848G= (p.Leu3616=)
c.10920G= (p.Leu3640=)
c.3840G= (p.Leu1280=)
n.196G=
c.336G= (p.Leu112=)
n.2926G=
c.5493G= (p.Leu1831=)
c.*1728G= (n.*1728G=)
c.10824G= (p.Leu3608=)
n.11046G=
c.10794G= (p.Leu3598=)
c.10590G= (p.Leu3530=)
n.12518G=
c.10671G= (p.Leu3557=)
c.10755G= (p.Leu3585=)
c.4487G= (n.4487G=)
c.10707G= (p.Leu3569=)
c.10887G= (p.Leu3629=)
c.4608G= (n.4608G=)
c.10857G= (p.Leu3619=)
c.4386G= (p.Leu1462=)
n.2598G=
n.648G=
c.10995G= (p.Leu3665=)
c.11019G= (p.Leu3673=)
c.10959G= (p.Leu3653=)
c.10956G= (p.Leu3652=)
c.10941G= (p.Leu3647=)
c.10980G= (p.Leu3660=)
c.10899G= (p.Leu3633=)
c.10854G= (p.Leu3618=)
c.10884G= (p.Leu3628=)
c.10860G= (p.Leu3620=)
c.5508G= (p.Leu1836=)
c.5469G= (p.Leu1823=)
c.10983G= (p.Leu3661=)
c.10944G= (p.Leu3648=)
c.10929G= (p.Leu3643=)
c.10890G= (p.Leu3630=)
c.10842G= (p.Leu3614=)
c.10611G= (p.Leu3537=)
c.6648G= (p.Leu2216=)
c.5532G= (p.Leu1844=)
c.10746G= (p.Leu3582=)
7g.92099821G>TCA456454237AKAP9,CYP51A1c.1352-14219C>A (n.1352-14219C>A)
c.10848G>T (p.Leu3616=)
c.10920G>T (p.Leu3640=)
c.3840G>T (p.Leu1280=)
n.196G>T
c.336G>T (p.Leu112=)
n.2926G>T
c.5493G>T (p.Leu1831=)
c.*1728G>T (n.*1728G>T)
c.10824G>T (p.Leu3608=)
n.11046G>T
c.10794G>T (p.Leu3598=)
c.10590G>T (p.Leu3530=)
n.12518G>T
c.10671G>T (p.Leu3557=)
c.10755G>T (p.Leu3585=)
c.4487G>T (n.4487G>T)
c.10707G>T (p.Leu3569=)
c.10887G>T (p.Leu3629=)
c.4608G>T (n.4608G>T)
c.10857G>T (p.Leu3619=)
c.4386G>T (p.Leu1462=)
n.2598G>T
n.648G>T
c.10995G>T (p.Leu3665=)
c.11019G>T (p.Leu3673=)
c.10959G>T (p.Leu3653=)
c.10956G>T (p.Leu3652=)
c.10941G>T (p.Leu3647=)
c.10980G>T (p.Leu3660=)
c.10899G>T (p.Leu3633=)
c.10854G>T (p.Leu3618=)
c.10884G>T (p.Leu3628=)
c.10860G>T (p.Leu3620=)
c.5508G>T (p.Leu1836=)
c.5469G>T (p.Leu1823=)
c.10983G>T (p.Leu3661=)
c.10944G>T (p.Leu3648=)
c.10929G>T (p.Leu3643=)
c.10890G>T (p.Leu3630=)
c.10842G>T (p.Leu3614=)
c.10611G>T (p.Leu3537=)
c.6648G>T (p.Leu2216=)
c.5532G>T (p.Leu1844=)
c.10746G>T (p.Leu3582=)
7g.92099822G>ACA368158897AKAP9,CYP51A1c.1352-14220C>T (n.1352-14220C>T)
c.10849G>A (p.Glu3617Lys)
c.10921G>A (p.Glu3641Lys)
c.3841G>A (p.Glu1281Lys)
n.197G>A
c.337G>A (p.Glu113Lys)
n.2927G>A
c.5494G>A (p.Glu1832Lys)
c.*1729G>A (n.*1729G>A)
c.10825G>A (p.Glu3609Lys)
n.11047G>A
c.10795G>A (p.Glu3599Lys)
c.10591G>A (p.Glu3531Lys)
n.12519G>A
c.10672G>A (p.Glu3558Lys)
c.10756G>A (p.Glu3586Lys)
c.4488G>A (n.4488G>A)
c.10708G>A (p.Glu3570Lys)
c.10888G>A (p.Glu3630Lys)
c.4609G>A (n.4609G>A)
c.10858G>A (p.Glu3620Lys)
c.4387G>A (p.Glu1463Lys)
n.2599G>A
n.649G>A
c.10996G>A (p.Glu3666Lys)
c.11020G>A (p.Glu3674Lys)
c.10960G>A (p.Glu3654Lys)
c.10957G>A (p.Glu3653Lys)
c.10942G>A (p.Glu3648Lys)
c.10981G>A (p.Glu3661Lys)
c.10900G>A (p.Glu3634Lys)
c.10855G>A (p.Glu3619Lys)
c.10885G>A (p.Glu3629Lys)
c.10861G>A (p.Glu3621Lys)
c.5509G>A (p.Glu1837Lys)
c.5470G>A (p.Glu1824Lys)
c.10984G>A (p.Glu3662Lys)
c.10945G>A (p.Glu3649Lys)
c.10930G>A (p.Glu3644Lys)
c.10891G>A (p.Glu3631Lys)
c.10843G>A (p.Glu3615Lys)
c.10612G>A (p.Glu3538Lys)
c.6649G>A (p.Glu2217Lys)
c.5533G>A (p.Glu1845Lys)
c.10747G>A (p.Glu3583Lys)
7g.92099822G>CCA368158904AKAP9,CYP51A1c.1352-14220C>G (n.1352-14220C>G)
c.10849G>C (p.Glu3617Gln)
c.10921G>C (p.Glu3641Gln)
c.3841G>C (p.Glu1281Gln)
n.197G>C
c.337G>C (p.Glu113Gln)
n.2927G>C
c.5494G>C (p.Glu1832Gln)
c.*1729G>C (n.*1729G>C)
c.10825G>C (p.Glu3609Gln)
n.11047G>C
c.10795G>C (p.Glu3599Gln)
c.10591G>C (p.Glu3531Gln)
n.12519G>C
c.10672G>C (p.Glu3558Gln)
c.10756G>C (p.Glu3586Gln)
c.4488G>C (n.4488G>C)
c.10708G>C (p.Glu3570Gln)
c.10888G>C (p.Glu3630Gln)
c.4609G>C (n.4609G>C)
c.10858G>C (p.Glu3620Gln)
c.4387G>C (p.Glu1463Gln)
n.2599G>C
n.649G>C
c.10996G>C (p.Glu3666Gln)
c.11020G>C (p.Glu3674Gln)
c.10960G>C (p.Glu3654Gln)
c.10957G>C (p.Glu3653Gln)
c.10942G>C (p.Glu3648Gln)
c.10981G>C (p.Glu3661Gln)
c.10900G>C (p.Glu3634Gln)
c.10855G>C (p.Glu3619Gln)
c.10885G>C (p.Glu3629Gln)
c.10861G>C (p.Glu3621Gln)
c.5509G>C (p.Glu1837Gln)
c.5470G>C (p.Glu1824Gln)
c.10984G>C (p.Glu3662Gln)
c.10945G>C (p.Glu3649Gln)
c.10930G>C (p.Glu3644Gln)
c.10891G>C (p.Glu3631Gln)
c.10843G>C (p.Glu3615Gln)
c.10612G>C (p.Glu3538Gln)
c.6649G>C (p.Glu2217Gln)
c.5533G>C (p.Glu1845Gln)
c.10747G>C (p.Glu3583Gln)
7g.92099822G>TCA368158906AKAP9,CYP51A1c.1352-14220C>A (n.1352-14220C>A)
c.10849G>T (p.Glu3617Ter)
c.10921G>T (p.Glu3641Ter)
c.3841G>T (p.Glu1281Ter)
n.197G>T
c.337G>T (p.Glu113Ter)
n.2927G>T
c.5494G>T (p.Glu1832Ter)
c.*1729G>T (n.*1729G>T)
c.10825G>T (p.Glu3609Ter)
n.11047G>T
c.10795G>T (p.Glu3599Ter)
c.10591G>T (p.Glu3531Ter)
n.12519G>T
c.10672G>T (p.Glu3558Ter)
c.10756G>T (p.Glu3586Ter)
c.4488G>T (n.4488G>T)
c.10708G>T (p.Glu3570Ter)
c.10888G>T (p.Glu3630Ter)
c.4609G>T (n.4609G>T)
c.10858G>T (p.Glu3620Ter)
c.4387G>T (p.Glu1463Ter)
n.2599G>T
n.649G>T
c.10996G>T (p.Glu3666Ter)
c.11020G>T (p.Glu3674Ter)
c.10960G>T (p.Glu3654Ter)
c.10957G>T (p.Glu3653Ter)
c.10942G>T (p.Glu3648Ter)
c.10981G>T (p.Glu3661Ter)
c.10900G>T (p.Glu3634Ter)
c.10855G>T (p.Glu3619Ter)
c.10885G>T (p.Glu3629Ter)
c.10861G>T (p.Glu3621Ter)
c.5509G>T (p.Glu1837Ter)
c.5470G>T (p.Glu1824Ter)
c.10984G>T (p.Glu3662Ter)
c.10945G>T (p.Glu3649Ter)
c.10930G>T (p.Glu3644Ter)
c.10891G>T (p.Glu3631Ter)
c.10843G>T (p.Glu3615Ter)
c.10612G>T (p.Glu3538Ter)
c.6649G>T (p.Glu2217Ter)
c.5533G>T (p.Glu1845Ter)
c.10747G>T (p.Glu3583Ter)
7g.92099823A>CCA368158909AKAP9,CYP51A1c.1352-14221T>G (n.1352-14221T>G)
c.10850A>C (p.Glu3617Ala)
c.10922A>C (p.Glu3641Ala)
c.3842A>C (p.Glu1281Ala)
n.198A>C
c.338A>C (p.Glu113Ala)
n.2928A>C
c.5495A>C (p.Glu1832Ala)
c.*1730A>C (n.*1730A>C)
c.10826A>C (p.Glu3609Ala)
n.11048A>C
c.10796A>C (p.Glu3599Ala)
c.10592A>C (p.Glu3531Ala)
n.12520A>C
c.10673A>C (p.Glu3558Ala)
c.10757A>C (p.Glu3586Ala)
c.4489A>C (n.4489A>C)
c.10709A>C (p.Glu3570Ala)
c.10889A>C (p.Glu3630Ala)
c.4610A>C (n.4610A>C)
c.10859A>C (p.Glu3620Ala)
c.4388A>C (p.Glu1463Ala)
n.2600A>C
n.650A>C
c.10997A>C (p.Glu3666Ala)
c.11021A>C (p.Glu3674Ala)
c.10961A>C (p.Glu3654Ala)
c.10958A>C (p.Glu3653Ala)
c.10943A>C (p.Glu3648Ala)
c.10982A>C (p.Glu3661Ala)
c.10901A>C (p.Glu3634Ala)
c.10856A>C (p.Glu3619Ala)
c.10886A>C (p.Glu3629Ala)
c.10862A>C (p.Glu3621Ala)
c.5510A>C (p.Glu1837Ala)
c.5471A>C (p.Glu1824Ala)
c.10985A>C (p.Glu3662Ala)
c.10946A>C (p.Glu3649Ala)
c.10931A>C (p.Glu3644Ala)
c.10892A>C (p.Glu3631Ala)
c.10844A>C (p.Glu3615Ala)
c.10613A>C (p.Glu3538Ala)
c.6650A>C (p.Glu2217Ala)
c.5534A>C (p.Glu1845Ala)
c.10748A>C (p.Glu3583Ala)
7g.92099823A>GCA368158911AKAP9,CYP51A1c.1352-14221T>C (n.1352-14221T>C)
c.10850A>G (p.Glu3617Gly)
c.10922A>G (p.Glu3641Gly)
c.3842A>G (p.Glu1281Gly)
n.198A>G
c.338A>G (p.Glu113Gly)
n.2928A>G
c.5495A>G (p.Glu1832Gly)
c.*1730A>G (n.*1730A>G)
c.10826A>G (p.Glu3609Gly)
n.11048A>G
c.10796A>G (p.Glu3599Gly)
c.10592A>G (p.Glu3531Gly)
n.12520A>G
c.10673A>G (p.Glu3558Gly)
c.10757A>G (p.Glu3586Gly)
c.4489A>G (n.4489A>G)
c.10709A>G (p.Glu3570Gly)
c.10889A>G (p.Glu3630Gly)
c.4610A>G (n.4610A>G)
c.10859A>G (p.Glu3620Gly)
c.4388A>G (p.Glu1463Gly)
n.2600A>G
n.650A>G
c.10997A>G (p.Glu3666Gly)
c.11021A>G (p.Glu3674Gly)
c.10961A>G (p.Glu3654Gly)
c.10958A>G (p.Glu3653Gly)
c.10943A>G (p.Glu3648Gly)
c.10982A>G (p.Glu3661Gly)
c.10901A>G (p.Glu3634Gly)
c.10856A>G (p.Glu3619Gly)
c.10886A>G (p.Glu3629Gly)
c.10862A>G (p.Glu3621Gly)
c.5510A>G (p.Glu1837Gly)
c.5471A>G (p.Glu1824Gly)
c.10985A>G (p.Glu3662Gly)
c.10946A>G (p.Glu3649Gly)
c.10931A>G (p.Glu3644Gly)
c.10892A>G (p.Glu3631Gly)
c.10844A>G (p.Glu3615Gly)
c.10613A>G (p.Glu3538Gly)
c.6650A>G (p.Glu2217Gly)
c.5534A>G (p.Glu1845Gly)
c.10748A>G (p.Glu3583Gly)
7g.92099823A>TCA368158912AKAP9,CYP51A1c.1352-14221T>A (n.1352-14221T>A)
c.10850A>T (p.Glu3617Val)
c.10922A>T (p.Glu3641Val)
c.3842A>T (p.Glu1281Val)
n.198A>T
c.338A>T (p.Glu113Val)
n.2928A>T
c.5495A>T (p.Glu1832Val)
c.*1730A>T (n.*1730A>T)
c.10826A>T (p.Glu3609Val)
n.11048A>T
c.10796A>T (p.Glu3599Val)
c.10592A>T (p.Glu3531Val)
n.12520A>T
c.10673A>T (p.Glu3558Val)
c.10757A>T (p.Glu3586Val)
c.4489A>T (n.4489A>T)
c.10709A>T (p.Glu3570Val)
c.10889A>T (p.Glu3630Val)
c.4610A>T (n.4610A>T)
c.10859A>T (p.Glu3620Val)
c.4388A>T (p.Glu1463Val)
n.2600A>T
n.650A>T
c.10997A>T (p.Glu3666Val)
c.11021A>T (p.Glu3674Val)
c.10961A>T (p.Glu3654Val)
c.10958A>T (p.Glu3653Val)
c.10943A>T (p.Glu3648Val)
c.10982A>T (p.Glu3661Val)
c.10901A>T (p.Glu3634Val)
c.10856A>T (p.Glu3619Val)
c.10886A>T (p.Glu3629Val)
c.10862A>T (p.Glu3621Val)
c.5510A>T (p.Glu1837Val)
c.5471A>T (p.Glu1824Val)
c.10985A>T (p.Glu3662Val)
c.10946A>T (p.Glu3649Val)
c.10931A>T (p.Glu3644Val)
c.10892A>T (p.Glu3631Val)
c.10844A>T (p.Glu3615Val)
c.10613A>T (p.Glu3538Val)
c.6650A>T (p.Glu2217Val)
c.5534A>T (p.Glu1845Val)
c.10748A>T (p.Glu3583Val)
7g.92099824A>CCA368158913AKAP9,CYP51A1c.1352-14222T>G (n.1352-14222T>G)
c.10851A>C (p.Glu3617Asp)
c.10923A>C (p.Glu3641Asp)
c.3843A>C (p.Glu1281Asp)
n.199A>C
c.339A>C (p.Glu113Asp)
n.2929A>C
c.5496A>C (p.Glu1832Asp)
c.*1731A>C (n.*1731A>C)
c.10827A>C (p.Glu3609Asp)
n.11049A>C
c.10797A>C (p.Glu3599Asp)
c.10593A>C (p.Glu3531Asp)
n.12521A>C
c.10674A>C (p.Glu3558Asp)
c.10758A>C (p.Glu3586Asp)
c.4490A>C (n.4490A>C)
c.10710A>C (p.Glu3570Asp)
c.10890A>C (p.Glu3630Asp)
c.4611A>C (n.4611A>C)
c.10860A>C (p.Glu3620Asp)
c.4389A>C (p.Glu1463Asp)
n.2601A>C
n.651A>C
c.10998A>C (p.Glu3666Asp)
c.11022A>C (p.Glu3674Asp)
c.10962A>C (p.Glu3654Asp)
c.10959A>C (p.Glu3653Asp)
c.10944A>C (p.Glu3648Asp)
c.10983A>C (p.Glu3661Asp)
c.10902A>C (p.Glu3634Asp)
c.10857A>C (p.Glu3619Asp)
c.10887A>C (p.Glu3629Asp)
c.10863A>C (p.Glu3621Asp)
c.5511A>C (p.Glu1837Asp)
c.5472A>C (p.Glu1824Asp)
c.10986A>C (p.Glu3662Asp)
c.10947A>C (p.Glu3649Asp)
c.10932A>C (p.Glu3644Asp)
c.10893A>C (p.Glu3631Asp)
c.10845A>C (p.Glu3615Asp)
c.10614A>C (p.Glu3538Asp)
c.6651A>C (p.Glu2217Asp)
c.5535A>C (p.Glu1845Asp)
c.10749A>C (p.Glu3583Asp)
7g.92099824A>GCA456454238AKAP9,CYP51A1c.1352-14222T>C (n.1352-14222T>C)
c.10851A>G (p.Glu3617=)
c.10923A>G (p.Glu3641=)
c.3843A>G (p.Glu1281=)
n.199A>G
c.339A>G (p.Glu113=)
n.2929A>G
c.5496A>G (p.Glu1832=)
c.*1731A>G (n.*1731A>G)
c.10827A>G (p.Glu3609=)
n.11049A>G
c.10797A>G (p.Glu3599=)
c.10593A>G (p.Glu3531=)
n.12521A>G
c.10674A>G (p.Glu3558=)
c.10758A>G (p.Glu3586=)
c.4490A>G (n.4490A>G)
c.10710A>G (p.Glu3570=)
c.10890A>G (p.Glu3630=)
c.4611A>G (n.4611A>G)
c.10860A>G (p.Glu3620=)
c.4389A>G (p.Glu1463=)
n.2601A>G
n.651A>G
c.10998A>G (p.Glu3666=)
c.11022A>G (p.Glu3674=)
c.10962A>G (p.Glu3654=)
c.10959A>G (p.Glu3653=)
c.10944A>G (p.Glu3648=)
c.10983A>G (p.Glu3661=)
c.10902A>G (p.Glu3634=)
c.10857A>G (p.Glu3619=)
c.10887A>G (p.Glu3629=)
c.10863A>G (p.Glu3621=)
c.5511A>G (p.Glu1837=)
c.5472A>G (p.Glu1824=)
c.10986A>G (p.Glu3662=)
c.10947A>G (p.Glu3649=)
c.10932A>G (p.Glu3644=)
c.10893A>G (p.Glu3631=)
c.10845A>G (p.Glu3615=)
c.10614A>G (p.Glu3538=)
c.6651A>G (p.Glu2217=)
c.5535A>G (p.Glu1845=)
c.10749A>G (p.Glu3583=)
7g.92099824A>TCA368158915AKAP9,CYP51A1c.1352-14222T>A (n.1352-14222T>A)
c.10851A>T (p.Glu3617Asp)
c.10923A>T (p.Glu3641Asp)
c.3843A>T (p.Glu1281Asp)
n.199A>T
c.339A>T (p.Glu113Asp)
n.2929A>T
c.5496A>T (p.Glu1832Asp)
c.*1731A>T (n.*1731A>T)
c.10827A>T (p.Glu3609Asp)
n.11049A>T
c.10797A>T (p.Glu3599Asp)
c.10593A>T (p.Glu3531Asp)
n.12521A>T
c.10674A>T (p.Glu3558Asp)
c.10758A>T (p.Glu3586Asp)
c.4490A>T (n.4490A>T)
c.10710A>T (p.Glu3570Asp)
c.10890A>T (p.Glu3630Asp)
c.4611A>T (n.4611A>T)
c.10860A>T (p.Glu3620Asp)
c.4389A>T (p.Glu1463Asp)
n.2601A>T
n.651A>T
c.10998A>T (p.Glu3666Asp)
c.11022A>T (p.Glu3674Asp)
c.10962A>T (p.Glu3654Asp)
c.10959A>T (p.Glu3653Asp)
c.10944A>T (p.Glu3648Asp)
c.10983A>T (p.Glu3661Asp)
c.10902A>T (p.Glu3634Asp)
c.10857A>T (p.Glu3619Asp)
c.10887A>T (p.Glu3629Asp)
c.10863A>T (p.Glu3621Asp)
c.5511A>T (p.Glu1837Asp)
c.5472A>T (p.Glu1824Asp)
c.10986A>T (p.Glu3662Asp)
c.10947A>T (p.Glu3649Asp)
c.10932A>T (p.Glu3644Asp)
c.10893A>T (p.Glu3631Asp)
c.10845A>T (p.Glu3615Asp)
c.10614A>T (p.Glu3538Asp)
c.6651A>T (p.Glu2217Asp)
c.5535A>T (p.Glu1845Asp)
c.10749A>T (p.Glu3583Asp)

Number of alleles fetched