UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92099818G>A | CA4338031 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099818G>C | CA368158886 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099818G= | CA1725766468 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099818G>T | CA368158887 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099819del | CA2683693700 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099819C>A | CA368158891 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099819C>G | CA368158889 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099819C>T | CA456454233 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099820T>A | CA368158892 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099820T>C | CA368158894 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099820T>G | CA368158895 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099821G>A | CA456454235 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099821G>C | CA456454236 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099821G= | CA1725766478 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099821G>T | CA456454237 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099822G>A | CA368158897 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099822G>C | CA368158904 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099822G>T | CA368158906 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099823A>C | CA368158909 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099823A>G | CA368158911 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099823A>T | CA368158912 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099824A>C | CA368158913 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099824A>G | CA456454238 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099824A>T | CA368158915 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099825G>A | CA368158920 | AKAP9,CYP51A1 | c.1352-14223C>T (n.1352-14223C>T) c.10852G>A (p.Glu3618Lys) c.10924G>A (p.Glu3642Lys) c.3844G>A (p.Glu1282Lys) n.200G>A c.340G>A (p.Glu114Lys) n.2930G>A c.5497G>A (p.Glu1833Lys) c.*1732G>A (n.*1732G>A) c.10828G>A (p.Glu3610Lys) n.11050G>A c.10798G>A (p.Glu3600Lys) c.10594G>A (p.Glu3532Lys) n.12522G>A c.10675G>A (p.Glu3559Lys) c.10759G>A (p.Glu3587Lys) c.4491G>A (n.4491G>A) c.10711G>A (p.Glu3571Lys) c.10891G>A (p.Glu3631Lys) c.4612G>A (n.4612G>A) c.10861G>A (p.Glu3621Lys) c.4390G>A (p.Glu1464Lys) n.2602G>A n.652G>A c.10999G>A (p.Glu3667Lys) c.11023G>A (p.Glu3675Lys) c.10963G>A (p.Glu3655Lys) c.10960G>A (p.Glu3654Lys) c.10945G>A (p.Glu3649Lys) c.10984G>A (p.Glu3662Lys) c.10903G>A (p.Glu3635Lys) c.10858G>A (p.Glu3620Lys) c.10888G>A (p.Glu3630Lys) c.10864G>A (p.Glu3622Lys) c.5512G>A (p.Glu1838Lys) c.5473G>A (p.Glu1825Lys) c.10987G>A (p.Glu3663Lys) c.10948G>A (p.Glu3650Lys) c.10933G>A (p.Glu3645Lys) c.10894G>A (p.Glu3632Lys) c.10846G>A (p.Glu3616Lys) c.10615G>A (p.Glu3539Lys) c.6652G>A (p.Glu2218Lys) c.5536G>A (p.Glu1846Lys) c.10750G>A (p.Glu3584Lys) | |
| 7 | g.92099825G>C | CA368158919 | AKAP9,CYP51A1 | c.1352-14223C>G (n.1352-14223C>G) c.10852G>C (p.Glu3618Gln) c.10924G>C (p.Glu3642Gln) c.3844G>C (p.Glu1282Gln) n.200G>C c.340G>C (p.Glu114Gln) n.2930G>C c.5497G>C (p.Glu1833Gln) c.*1732G>C (n.*1732G>C) c.10828G>C (p.Glu3610Gln) n.11050G>C c.10798G>C (p.Glu3600Gln) c.10594G>C (p.Glu3532Gln) n.12522G>C c.10675G>C (p.Glu3559Gln) c.10759G>C (p.Glu3587Gln) c.4491G>C (n.4491G>C) c.10711G>C (p.Glu3571Gln) c.10891G>C (p.Glu3631Gln) c.4612G>C (n.4612G>C) c.10861G>C (p.Glu3621Gln) c.4390G>C (p.Glu1464Gln) n.2602G>C n.652G>C c.10999G>C (p.Glu3667Gln) c.11023G>C (p.Glu3675Gln) c.10963G>C (p.Glu3655Gln) c.10960G>C (p.Glu3654Gln) c.10945G>C (p.Glu3649Gln) c.10984G>C (p.Glu3662Gln) c.10903G>C (p.Glu3635Gln) c.10858G>C (p.Glu3620Gln) c.10888G>C (p.Glu3630Gln) c.10864G>C (p.Glu3622Gln) c.5512G>C (p.Glu1838Gln) c.5473G>C (p.Glu1825Gln) c.10987G>C (p.Glu3663Gln) c.10948G>C (p.Glu3650Gln) c.10933G>C (p.Glu3645Gln) c.10894G>C (p.Glu3632Gln) c.10846G>C (p.Glu3616Gln) c.10615G>C (p.Glu3539Gln) c.6652G>C (p.Glu2218Gln) c.5536G>C (p.Glu1846Gln) c.10750G>C (p.Glu3584Gln) | |
| 7 | g.92099825G>T | CA368158917 | AKAP9,CYP51A1 | c.1352-14223C>A (n.1352-14223C>A) c.10852G>T (p.Glu3618Ter) c.10924G>T (p.Glu3642Ter) c.3844G>T (p.Glu1282Ter) n.200G>T c.340G>T (p.Glu114Ter) n.2930G>T c.5497G>T (p.Glu1833Ter) c.*1732G>T (n.*1732G>T) c.10828G>T (p.Glu3610Ter) n.11050G>T c.10798G>T (p.Glu3600Ter) c.10594G>T (p.Glu3532Ter) n.12522G>T c.10675G>T (p.Glu3559Ter) c.10759G>T (p.Glu3587Ter) c.4491G>T (n.4491G>T) c.10711G>T (p.Glu3571Ter) c.10891G>T (p.Glu3631Ter) c.4612G>T (n.4612G>T) c.10861G>T (p.Glu3621Ter) c.4390G>T (p.Glu1464Ter) n.2602G>T n.652G>T c.10999G>T (p.Glu3667Ter) c.11023G>T (p.Glu3675Ter) c.10963G>T (p.Glu3655Ter) c.10960G>T (p.Glu3654Ter) c.10945G>T (p.Glu3649Ter) c.10984G>T (p.Glu3662Ter) c.10903G>T (p.Glu3635Ter) c.10858G>T (p.Glu3620Ter) c.10888G>T (p.Glu3630Ter) c.10864G>T (p.Glu3622Ter) c.5512G>T (p.Glu1838Ter) c.5473G>T (p.Glu1825Ter) c.10987G>T (p.Glu3663Ter) c.10948G>T (p.Glu3650Ter) c.10933G>T (p.Glu3645Ter) c.10894G>T (p.Glu3632Ter) c.10846G>T (p.Glu3616Ter) c.10615G>T (p.Glu3539Ter) c.6652G>T (p.Glu2218Ter) c.5536G>T (p.Glu1846Ter) c.10750G>T (p.Glu3584Ter) | |
| 7 | g.92099826A>C | CA368158921 | AKAP9,CYP51A1 | c.1352-14224T>G (n.1352-14224T>G) c.10853A>C (p.Glu3618Ala) c.10925A>C (p.Glu3642Ala) c.3845A>C (p.Glu1282Ala) n.201A>C c.341A>C (p.Glu114Ala) n.2931A>C c.5498A>C (p.Glu1833Ala) c.*1733A>C (n.*1733A>C) c.10829A>C (p.Glu3610Ala) n.11051A>C c.10799A>C (p.Glu3600Ala) c.10595A>C (p.Glu3532Ala) n.12523A>C c.10676A>C (p.Glu3559Ala) c.10760A>C (p.Glu3587Ala) c.4492A>C (n.4492A>C) c.10712A>C (p.Glu3571Ala) c.10892A>C (p.Glu3631Ala) c.4613A>C (n.4613A>C) c.10862A>C (p.Glu3621Ala) c.4391A>C (p.Glu1464Ala) n.2603A>C n.653A>C c.11000A>C (p.Glu3667Ala) c.11024A>C (p.Glu3675Ala) c.10964A>C (p.Glu3655Ala) c.10961A>C (p.Glu3654Ala) c.10946A>C (p.Glu3649Ala) c.10985A>C (p.Glu3662Ala) c.10904A>C (p.Glu3635Ala) c.10859A>C (p.Glu3620Ala) c.10889A>C (p.Glu3630Ala) c.10865A>C (p.Glu3622Ala) c.5513A>C (p.Glu1838Ala) c.5474A>C (p.Glu1825Ala) c.10988A>C (p.Glu3663Ala) c.10949A>C (p.Glu3650Ala) c.10934A>C (p.Glu3645Ala) c.10895A>C (p.Glu3632Ala) c.10847A>C (p.Glu3616Ala) c.10616A>C (p.Glu3539Ala) c.6653A>C (p.Glu2218Ala) c.5537A>C (p.Glu1846Ala) c.10751A>C (p.Glu3584Ala) | |
| 7 | g.92099826A>G | CA368158922 | AKAP9,CYP51A1 | c.1352-14224T>C (n.1352-14224T>C) c.10853A>G (p.Glu3618Gly) c.10925A>G (p.Glu3642Gly) c.3845A>G (p.Glu1282Gly) n.201A>G c.341A>G (p.Glu114Gly) n.2931A>G c.5498A>G (p.Glu1833Gly) c.*1733A>G (n.*1733A>G) c.10829A>G (p.Glu3610Gly) n.11051A>G c.10799A>G (p.Glu3600Gly) c.10595A>G (p.Glu3532Gly) n.12523A>G c.10676A>G (p.Glu3559Gly) c.10760A>G (p.Glu3587Gly) c.4492A>G (n.4492A>G) c.10712A>G (p.Glu3571Gly) c.10892A>G (p.Glu3631Gly) c.4613A>G (n.4613A>G) c.10862A>G (p.Glu3621Gly) c.4391A>G (p.Glu1464Gly) n.2603A>G n.653A>G c.11000A>G (p.Glu3667Gly) c.11024A>G (p.Glu3675Gly) c.10964A>G (p.Glu3655Gly) c.10961A>G (p.Glu3654Gly) c.10946A>G (p.Glu3649Gly) c.10985A>G (p.Glu3662Gly) c.10904A>G (p.Glu3635Gly) c.10859A>G (p.Glu3620Gly) c.10889A>G (p.Glu3630Gly) c.10865A>G (p.Glu3622Gly) c.5513A>G (p.Glu1838Gly) c.5474A>G (p.Glu1825Gly) c.10988A>G (p.Glu3663Gly) c.10949A>G (p.Glu3650Gly) c.10934A>G (p.Glu3645Gly) c.10895A>G (p.Glu3632Gly) c.10847A>G (p.Glu3616Gly) c.10616A>G (p.Glu3539Gly) c.6653A>G (p.Glu2218Gly) c.5537A>G (p.Glu1846Gly) c.10751A>G (p.Glu3584Gly) | gnomAD v4 |
| 7 | g.92099826A>T | CA368158923 | AKAP9,CYP51A1 | c.1352-14224T>A (n.1352-14224T>A) c.10853A>T (p.Glu3618Val) c.10925A>T (p.Glu3642Val) c.3845A>T (p.Glu1282Val) n.201A>T c.341A>T (p.Glu114Val) n.2931A>T c.5498A>T (p.Glu1833Val) c.*1733A>T (n.*1733A>T) c.10829A>T (p.Glu3610Val) n.11051A>T c.10799A>T (p.Glu3600Val) c.10595A>T (p.Glu3532Val) n.12523A>T c.10676A>T (p.Glu3559Val) c.10760A>T (p.Glu3587Val) c.4492A>T (n.4492A>T) c.10712A>T (p.Glu3571Val) c.10892A>T (p.Glu3631Val) c.4613A>T (n.4613A>T) c.10862A>T (p.Glu3621Val) c.4391A>T (p.Glu1464Val) n.2603A>T n.653A>T c.11000A>T (p.Glu3667Val) c.11024A>T (p.Glu3675Val) c.10964A>T (p.Glu3655Val) c.10961A>T (p.Glu3654Val) c.10946A>T (p.Glu3649Val) c.10985A>T (p.Glu3662Val) c.10904A>T (p.Glu3635Val) c.10859A>T (p.Glu3620Val) c.10889A>T (p.Glu3630Val) c.10865A>T (p.Glu3622Val) c.5513A>T (p.Glu1838Val) c.5474A>T (p.Glu1825Val) c.10988A>T (p.Glu3663Val) c.10949A>T (p.Glu3650Val) c.10934A>T (p.Glu3645Val) c.10895A>T (p.Glu3632Val) c.10847A>T (p.Glu3616Val) c.10616A>T (p.Glu3539Val) c.6653A>T (p.Glu2218Val) c.5537A>T (p.Glu1846Val) c.10751A>T (p.Glu3584Val) | |
| 7 | g.92099827G>A | CA456454246 | AKAP9,CYP51A1 | c.1352-14225C>T (n.1352-14225C>T) c.10854G>A (p.Glu3618=) c.10926G>A (p.Glu3642=) c.3846G>A (p.Glu1282=) n.202G>A c.342G>A (p.Glu114=) n.2932G>A c.5499G>A (p.Glu1833=) c.*1734G>A (n.*1734G>A) c.10830G>A (p.Glu3610=) n.11052G>A c.10800G>A (p.Glu3600=) c.10596G>A (p.Glu3532=) n.12524G>A c.10677G>A (p.Glu3559=) c.10761G>A (p.Glu3587=) c.4493G>A (n.4493G>A) c.10713G>A (p.Glu3571=) c.10893G>A (p.Glu3631=) c.4614G>A (n.4614G>A) c.10863G>A (p.Glu3621=) c.4392G>A (p.Glu1464=) n.2604G>A n.654G>A c.11001G>A (p.Glu3667=) c.11025G>A (p.Glu3675=) c.10965G>A (p.Glu3655=) c.10962G>A (p.Glu3654=) c.10947G>A (p.Glu3649=) c.10986G>A (p.Glu3662=) c.10905G>A (p.Glu3635=) c.10860G>A (p.Glu3620=) c.10890G>A (p.Glu3630=) c.10866G>A (p.Glu3622=) c.5514G>A (p.Glu1838=) c.5475G>A (p.Glu1825=) c.10989G>A (p.Glu3663=) c.10950G>A (p.Glu3650=) c.10935G>A (p.Glu3645=) c.10896G>A (p.Glu3632=) c.10848G>A (p.Glu3616=) c.10617G>A (p.Glu3539=) c.6654G>A (p.Glu2218=) c.5538G>A (p.Glu1846=) c.10752G>A (p.Glu3584=) | |
| 7 | g.92099827G>C | CA368158924 | AKAP9,CYP51A1 | c.1352-14225C>G (n.1352-14225C>G) c.10854G>C (p.Glu3618Asp) c.10926G>C (p.Glu3642Asp) c.3846G>C (p.Glu1282Asp) n.202G>C c.342G>C (p.Glu114Asp) n.2932G>C c.5499G>C (p.Glu1833Asp) c.*1734G>C (n.*1734G>C) c.10830G>C (p.Glu3610Asp) n.11052G>C c.10800G>C (p.Glu3600Asp) c.10596G>C (p.Glu3532Asp) n.12524G>C c.10677G>C (p.Glu3559Asp) c.10761G>C (p.Glu3587Asp) c.4493G>C (n.4493G>C) c.10713G>C (p.Glu3571Asp) c.10893G>C (p.Glu3631Asp) c.4614G>C (n.4614G>C) c.10863G>C (p.Glu3621Asp) c.4392G>C (p.Glu1464Asp) n.2604G>C n.654G>C c.11001G>C (p.Glu3667Asp) c.11025G>C (p.Glu3675Asp) c.10965G>C (p.Glu3655Asp) c.10962G>C (p.Glu3654Asp) c.10947G>C (p.Glu3649Asp) c.10986G>C (p.Glu3662Asp) c.10905G>C (p.Glu3635Asp) c.10860G>C (p.Glu3620Asp) c.10890G>C (p.Glu3630Asp) c.10866G>C (p.Glu3622Asp) c.5514G>C (p.Glu1838Asp) c.5475G>C (p.Glu1825Asp) c.10989G>C (p.Glu3663Asp) c.10950G>C (p.Glu3650Asp) c.10935G>C (p.Glu3645Asp) c.10896G>C (p.Glu3632Asp) c.10848G>C (p.Glu3616Asp) c.10617G>C (p.Glu3539Asp) c.6654G>C (p.Glu2218Asp) c.5538G>C (p.Glu1846Asp) c.10752G>C (p.Glu3584Asp) | gnomAD v4 |
| 7 | g.92099827G>T | CA368158925 | AKAP9,CYP51A1 | c.1352-14225C>A (n.1352-14225C>A) c.10854G>T (p.Glu3618Asp) c.10926G>T (p.Glu3642Asp) c.3846G>T (p.Glu1282Asp) n.202G>T c.342G>T (p.Glu114Asp) n.2932G>T c.5499G>T (p.Glu1833Asp) c.*1734G>T (n.*1734G>T) c.10830G>T (p.Glu3610Asp) n.11052G>T c.10800G>T (p.Glu3600Asp) c.10596G>T (p.Glu3532Asp) n.12524G>T c.10677G>T (p.Glu3559Asp) c.10761G>T (p.Glu3587Asp) c.4493G>T (n.4493G>T) c.10713G>T (p.Glu3571Asp) c.10893G>T (p.Glu3631Asp) c.4614G>T (n.4614G>T) c.10863G>T (p.Glu3621Asp) c.4392G>T (p.Glu1464Asp) n.2604G>T n.654G>T c.11001G>T (p.Glu3667Asp) c.11025G>T (p.Glu3675Asp) c.10965G>T (p.Glu3655Asp) c.10962G>T (p.Glu3654Asp) c.10947G>T (p.Glu3649Asp) c.10986G>T (p.Glu3662Asp) c.10905G>T (p.Glu3635Asp) c.10860G>T (p.Glu3620Asp) c.10890G>T (p.Glu3630Asp) c.10866G>T (p.Glu3622Asp) c.5514G>T (p.Glu1838Asp) c.5475G>T (p.Glu1825Asp) c.10989G>T (p.Glu3663Asp) c.10950G>T (p.Glu3650Asp) c.10935G>T (p.Glu3645Asp) c.10896G>T (p.Glu3632Asp) c.10848G>T (p.Glu3616Asp) c.10617G>T (p.Glu3539Asp) c.6654G>T (p.Glu2218Asp) c.5538G>T (p.Glu1846Asp) c.10752G>T (p.Glu3584Asp) | |
| 7 | g.92099828C>A | CA368158926 | AKAP9,CYP51A1 | c.1352-14226G>T (n.1352-14226G>T) c.10855C>A (p.Gln3619Lys) c.10927C>A (p.Gln3643Lys) c.3847C>A (p.Gln1283Lys) n.203C>A c.343C>A (p.Gln115Lys) n.2933C>A c.5500C>A (p.Gln1834Lys) c.*1735C>A (n.*1735C>A) c.10831C>A (p.Gln3611Lys) n.11053C>A c.10801C>A (p.Gln3601Lys) c.10597C>A (p.Gln3533Lys) n.12525C>A c.10678C>A (p.Gln3560Lys) c.10762C>A (p.Gln3588Lys) c.4494C>A (n.4494C>A) c.10714C>A (p.Gln3572Lys) c.10894C>A (p.Gln3632Lys) c.4615C>A (n.4615C>A) c.10864C>A (p.Gln3622Lys) c.4393C>A (p.Gln1465Lys) n.2605C>A n.655C>A c.11002C>A (p.Gln3668Lys) c.11026C>A (p.Gln3676Lys) c.10966C>A (p.Gln3656Lys) c.10963C>A (p.Gln3655Lys) c.10948C>A (p.Gln3650Lys) c.10987C>A (p.Gln3663Lys) c.10906C>A (p.Gln3636Lys) c.10861C>A (p.Gln3621Lys) c.10891C>A (p.Gln3631Lys) c.10867C>A (p.Gln3623Lys) c.5515C>A (p.Gln1839Lys) c.5476C>A (p.Gln1826Lys) c.10990C>A (p.Gln3664Lys) c.10951C>A (p.Gln3651Lys) c.10936C>A (p.Gln3646Lys) c.10897C>A (p.Gln3633Lys) c.10849C>A (p.Gln3617Lys) c.10618C>A (p.Gln3540Lys) c.6655C>A (p.Gln2219Lys) c.5539C>A (p.Gln1847Lys) c.10753C>A (p.Gln3585Lys) | |
| 7 | g.92099828C= | CA1725766483 | AKAP9,CYP51A1 | c.1352-14226G= (n.1352-14226G=) c.10855C= (p.Gln3619=) c.10927C= (p.Gln3643=) c.3847C= (p.Gln1283=) n.203C= c.343C= (p.Gln115=) n.2933C= c.5500C= (p.Gln1834=) c.*1735C= (n.*1735C=) c.10831C= (p.Gln3611=) n.11053C= c.10801C= (p.Gln3601=) c.10597C= (p.Gln3533=) n.12525C= c.10678C= (p.Gln3560=) c.10762C= (p.Gln3588=) c.4494C= (n.4494C=) c.10714C= (p.Gln3572=) c.10894C= (p.Gln3632=) c.4615C= (n.4615C=) c.10864C= (p.Gln3622=) c.4393C= (p.Gln1465=) n.2605C= n.655C= c.11002C= (p.Gln3668=) c.11026C= (p.Gln3676=) c.10966C= (p.Gln3656=) c.10963C= (p.Gln3655=) c.10948C= (p.Gln3650=) c.10987C= (p.Gln3663=) c.10906C= (p.Gln3636=) c.10861C= (p.Gln3621=) c.10891C= (p.Gln3631=) c.10867C= (p.Gln3623=) c.5515C= (p.Gln1839=) c.5476C= (p.Gln1826=) c.10990C= (p.Gln3664=) c.10951C= (p.Gln3651=) c.10936C= (p.Gln3646=) c.10897C= (p.Gln3633=) c.10849C= (p.Gln3617=) c.10618C= (p.Gln3540=) c.6655C= (p.Gln2219=) c.5539C= (p.Gln1847=) c.10753C= (p.Gln3585=) | |
| 7 | g.92099828C>G | CA4338032 | AKAP9,CYP51A1 | c.1352-14226G>C (n.1352-14226G>C) c.10855C>G (p.Gln3619Glu) c.10927C>G (p.Gln3643Glu) c.3847C>G (p.Gln1283Glu) n.203C>G c.343C>G (p.Gln115Glu) n.2933C>G c.5500C>G (p.Gln1834Glu) c.*1735C>G (n.*1735C>G) c.10831C>G (p.Gln3611Glu) n.11053C>G c.10801C>G (p.Gln3601Glu) c.10597C>G (p.Gln3533Glu) n.12525C>G c.10678C>G (p.Gln3560Glu) c.10762C>G (p.Gln3588Glu) c.4494C>G (n.4494C>G) c.10714C>G (p.Gln3572Glu) c.10894C>G (p.Gln3632Glu) c.4615C>G (n.4615C>G) c.10864C>G (p.Gln3622Glu) c.4393C>G (p.Gln1465Glu) n.2605C>G n.655C>G c.11002C>G (p.Gln3668Glu) c.11026C>G (p.Gln3676Glu) c.10966C>G (p.Gln3656Glu) c.10963C>G (p.Gln3655Glu) c.10948C>G (p.Gln3650Glu) c.10987C>G (p.Gln3663Glu) c.10906C>G (p.Gln3636Glu) c.10861C>G (p.Gln3621Glu) c.10891C>G (p.Gln3631Glu) c.10867C>G (p.Gln3623Glu) c.5515C>G (p.Gln1839Glu) c.5476C>G (p.Gln1826Glu) c.10990C>G (p.Gln3664Glu) c.10951C>G (p.Gln3651Glu) c.10936C>G (p.Gln3646Glu) c.10897C>G (p.Gln3633Glu) c.10849C>G (p.Gln3617Glu) c.10618C>G (p.Gln3540Glu) c.6655C>G (p.Gln2219Glu) c.5539C>G (p.Gln1847Glu) c.10753C>G (p.Gln3585Glu) | dbSNP ExAC gnomAD v4 |
| 7 | g.92099828C>T | CA368158927 | AKAP9,CYP51A1 | c.1352-14226G>A (n.1352-14226G>A) c.10855C>T (p.Gln3619Ter) c.10927C>T (p.Gln3643Ter) c.3847C>T (p.Gln1283Ter) n.203C>T c.343C>T (p.Gln115Ter) n.2933C>T c.5500C>T (p.Gln1834Ter) c.*1735C>T (n.*1735C>T) c.10831C>T (p.Gln3611Ter) n.11053C>T c.10801C>T (p.Gln3601Ter) c.10597C>T (p.Gln3533Ter) n.12525C>T c.10678C>T (p.Gln3560Ter) c.10762C>T (p.Gln3588Ter) c.4494C>T (n.4494C>T) c.10714C>T (p.Gln3572Ter) c.10894C>T (p.Gln3632Ter) c.4615C>T (n.4615C>T) c.10864C>T (p.Gln3622Ter) c.4393C>T (p.Gln1465Ter) n.2605C>T n.655C>T c.11002C>T (p.Gln3668Ter) c.11026C>T (p.Gln3676Ter) c.10966C>T (p.Gln3656Ter) c.10963C>T (p.Gln3655Ter) c.10948C>T (p.Gln3650Ter) c.10987C>T (p.Gln3663Ter) c.10906C>T (p.Gln3636Ter) c.10861C>T (p.Gln3621Ter) c.10891C>T (p.Gln3631Ter) c.10867C>T (p.Gln3623Ter) c.5515C>T (p.Gln1839Ter) c.5476C>T (p.Gln1826Ter) c.10990C>T (p.Gln3664Ter) c.10951C>T (p.Gln3651Ter) c.10936C>T (p.Gln3646Ter) c.10897C>T (p.Gln3633Ter) c.10849C>T (p.Gln3617Ter) c.10618C>T (p.Gln3540Ter) c.6655C>T (p.Gln2219Ter) c.5539C>T (p.Gln1847Ter) c.10753C>T (p.Gln3585Ter) | |
| 7 | g.92099829A>C | CA368158928 | AKAP9,CYP51A1 | c.1352-14227T>G (n.1352-14227T>G) c.10856A>C (p.Gln3619Pro) c.10928A>C (p.Gln3643Pro) c.3848A>C (p.Gln1283Pro) n.204A>C c.344A>C (p.Gln115Pro) n.2934A>C c.5501A>C (p.Gln1834Pro) c.*1736A>C (n.*1736A>C) c.10832A>C (p.Gln3611Pro) n.11054A>C c.10802A>C (p.Gln3601Pro) c.10598A>C (p.Gln3533Pro) n.12526A>C c.10679A>C (p.Gln3560Pro) c.10763A>C (p.Gln3588Pro) c.4495A>C (n.4495A>C) c.10715A>C (p.Gln3572Pro) c.10895A>C (p.Gln3632Pro) c.4616A>C (n.4616A>C) c.10865A>C (p.Gln3622Pro) c.4394A>C (p.Gln1465Pro) n.2606A>C n.656A>C c.11003A>C (p.Gln3668Pro) c.11027A>C (p.Gln3676Pro) c.10967A>C (p.Gln3656Pro) c.10964A>C (p.Gln3655Pro) c.10949A>C (p.Gln3650Pro) c.10988A>C (p.Gln3663Pro) c.10907A>C (p.Gln3636Pro) c.10862A>C (p.Gln3621Pro) c.10892A>C (p.Gln3631Pro) c.10868A>C (p.Gln3623Pro) c.5516A>C (p.Gln1839Pro) c.5477A>C (p.Gln1826Pro) c.10991A>C (p.Gln3664Pro) c.10952A>C (p.Gln3651Pro) c.10937A>C (p.Gln3646Pro) c.10898A>C (p.Gln3633Pro) c.10850A>C (p.Gln3617Pro) c.10619A>C (p.Gln3540Pro) c.6656A>C (p.Gln2219Pro) c.5540A>C (p.Gln1847Pro) c.10754A>C (p.Gln3585Pro) | |
| 7 | g.92099829A>G | CA368158929 | AKAP9,CYP51A1 | c.1352-14227T>C (n.1352-14227T>C) c.10856A>G (p.Gln3619Arg) c.10928A>G (p.Gln3643Arg) c.3848A>G (p.Gln1283Arg) n.204A>G c.344A>G (p.Gln115Arg) n.2934A>G c.5501A>G (p.Gln1834Arg) c.*1736A>G (n.*1736A>G) c.10832A>G (p.Gln3611Arg) n.11054A>G c.10802A>G (p.Gln3601Arg) c.10598A>G (p.Gln3533Arg) n.12526A>G c.10679A>G (p.Gln3560Arg) c.10763A>G (p.Gln3588Arg) c.4495A>G (n.4495A>G) c.10715A>G (p.Gln3572Arg) c.10895A>G (p.Gln3632Arg) c.4616A>G (n.4616A>G) c.10865A>G (p.Gln3622Arg) c.4394A>G (p.Gln1465Arg) n.2606A>G n.656A>G c.11003A>G (p.Gln3668Arg) c.11027A>G (p.Gln3676Arg) c.10967A>G (p.Gln3656Arg) c.10964A>G (p.Gln3655Arg) c.10949A>G (p.Gln3650Arg) c.10988A>G (p.Gln3663Arg) c.10907A>G (p.Gln3636Arg) c.10862A>G (p.Gln3621Arg) c.10892A>G (p.Gln3631Arg) c.10868A>G (p.Gln3623Arg) c.5516A>G (p.Gln1839Arg) c.5477A>G (p.Gln1826Arg) c.10991A>G (p.Gln3664Arg) c.10952A>G (p.Gln3651Arg) c.10937A>G (p.Gln3646Arg) c.10898A>G (p.Gln3633Arg) c.10850A>G (p.Gln3617Arg) c.10619A>G (p.Gln3540Arg) c.6656A>G (p.Gln2219Arg) c.5540A>G (p.Gln1847Arg) c.10754A>G (p.Gln3585Arg) | |
| 7 | g.92099829A>T | CA368158930 | AKAP9,CYP51A1 | c.1352-14227T>A (n.1352-14227T>A) c.10856A>T (p.Gln3619Leu) c.10928A>T (p.Gln3643Leu) c.3848A>T (p.Gln1283Leu) n.204A>T c.344A>T (p.Gln115Leu) n.2934A>T c.5501A>T (p.Gln1834Leu) c.*1736A>T (n.*1736A>T) c.10832A>T (p.Gln3611Leu) n.11054A>T c.10802A>T (p.Gln3601Leu) c.10598A>T (p.Gln3533Leu) n.12526A>T c.10679A>T (p.Gln3560Leu) c.10763A>T (p.Gln3588Leu) c.4495A>T (n.4495A>T) c.10715A>T (p.Gln3572Leu) c.10895A>T (p.Gln3632Leu) c.4616A>T (n.4616A>T) c.10865A>T (p.Gln3622Leu) c.4394A>T (p.Gln1465Leu) n.2606A>T n.656A>T c.11003A>T (p.Gln3668Leu) c.11027A>T (p.Gln3676Leu) c.10967A>T (p.Gln3656Leu) c.10964A>T (p.Gln3655Leu) c.10949A>T (p.Gln3650Leu) c.10988A>T (p.Gln3663Leu) c.10907A>T (p.Gln3636Leu) c.10862A>T (p.Gln3621Leu) c.10892A>T (p.Gln3631Leu) c.10868A>T (p.Gln3623Leu) c.5516A>T (p.Gln1839Leu) c.5477A>T (p.Gln1826Leu) c.10991A>T (p.Gln3664Leu) c.10952A>T (p.Gln3651Leu) c.10937A>T (p.Gln3646Leu) c.10898A>T (p.Gln3633Leu) c.10850A>T (p.Gln3617Leu) c.10619A>T (p.Gln3540Leu) c.6656A>T (p.Gln2219Leu) c.5540A>T (p.Gln1847Leu) c.10754A>T (p.Gln3585Leu) | |
| 7 | g.92099830G>A | CA456454254 | AKAP9,CYP51A1 | c.1352-14228C>T (n.1352-14228C>T) c.10857G>A (p.Gln3619=) c.10929G>A (p.Gln3643=) c.3849G>A (p.Gln1283=) n.205G>A c.345G>A (p.Gln115=) n.2935G>A c.5502G>A (p.Gln1834=) c.*1737G>A (n.*1737G>A) c.10833G>A (p.Gln3611=) n.11055G>A c.10803G>A (p.Gln3601=) c.10599G>A (p.Gln3533=) n.12527G>A c.10680G>A (p.Gln3560=) c.10764G>A (p.Gln3588=) c.4496G>A (n.4496G>A) c.10716G>A (p.Gln3572=) c.10896G>A (p.Gln3632=) c.4617G>A (n.4617G>A) c.10866G>A (p.Gln3622=) c.4395G>A (p.Gln1465=) n.2607G>A n.657G>A c.11004G>A (p.Gln3668=) c.11028G>A (p.Gln3676=) c.10968G>A (p.Gln3656=) c.10965G>A (p.Gln3655=) c.10950G>A (p.Gln3650=) c.10989G>A (p.Gln3663=) c.10908G>A (p.Gln3636=) c.10863G>A (p.Gln3621=) c.10893G>A (p.Gln3631=) c.10869G>A (p.Gln3623=) c.5517G>A (p.Gln1839=) c.5478G>A (p.Gln1826=) c.10992G>A (p.Gln3664=) c.10953G>A (p.Gln3651=) c.10938G>A (p.Gln3646=) c.10899G>A (p.Gln3633=) c.10851G>A (p.Gln3617=) c.10620G>A (p.Gln3540=) c.6657G>A (p.Gln2219=) c.5541G>A (p.Gln1847=) c.10755G>A (p.Gln3585=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.92099830G>C | CA368158932 | AKAP9,CYP51A1 | c.1352-14228C>G (n.1352-14228C>G) c.10857G>C (p.Gln3619His) c.10929G>C (p.Gln3643His) c.3849G>C (p.Gln1283His) n.205G>C c.345G>C (p.Gln115His) n.2935G>C c.5502G>C (p.Gln1834His) c.*1737G>C (n.*1737G>C) c.10833G>C (p.Gln3611His) n.11055G>C c.10803G>C (p.Gln3601His) c.10599G>C (p.Gln3533His) n.12527G>C c.10680G>C (p.Gln3560His) c.10764G>C (p.Gln3588His) c.4496G>C (n.4496G>C) c.10716G>C (p.Gln3572His) c.10896G>C (p.Gln3632His) c.4617G>C (n.4617G>C) c.10866G>C (p.Gln3622His) c.4395G>C (p.Gln1465His) n.2607G>C n.657G>C c.11004G>C (p.Gln3668His) c.11028G>C (p.Gln3676His) c.10968G>C (p.Gln3656His) c.10965G>C (p.Gln3655His) c.10950G>C (p.Gln3650His) c.10989G>C (p.Gln3663His) c.10908G>C (p.Gln3636His) c.10863G>C (p.Gln3621His) c.10893G>C (p.Gln3631His) c.10869G>C (p.Gln3623His) c.5517G>C (p.Gln1839His) c.5478G>C (p.Gln1826His) c.10992G>C (p.Gln3664His) c.10953G>C (p.Gln3651His) c.10938G>C (p.Gln3646His) c.10899G>C (p.Gln3633His) c.10851G>C (p.Gln3617His) c.10620G>C (p.Gln3540His) c.6657G>C (p.Gln2219His) c.5541G>C (p.Gln1847His) c.10755G>C (p.Gln3585His) | |
| 7 | g.92099830G= | CA1725766488 | AKAP9,CYP51A1 | c.1352-14228C= (n.1352-14228C=) c.10857G= (p.Gln3619=) c.10929G= (p.Gln3643=) c.3849G= (p.Gln1283=) n.205G= c.345G= (p.Gln115=) n.2935G= c.5502G= (p.Gln1834=) c.*1737G= (n.*1737G=) c.10833G= (p.Gln3611=) n.11055G= c.10803G= (p.Gln3601=) c.10599G= (p.Gln3533=) n.12527G= c.10680G= (p.Gln3560=) c.10764G= (p.Gln3588=) c.4496G= (n.4496G=) c.10716G= (p.Gln3572=) c.10896G= (p.Gln3632=) c.4617G= (n.4617G=) c.10866G= (p.Gln3622=) c.4395G= (p.Gln1465=) n.2607G= n.657G= c.11004G= (p.Gln3668=) c.11028G= (p.Gln3676=) c.10968G= (p.Gln3656=) c.10965G= (p.Gln3655=) c.10950G= (p.Gln3650=) c.10989G= (p.Gln3663=) c.10908G= (p.Gln3636=) c.10863G= (p.Gln3621=) c.10893G= (p.Gln3631=) c.10869G= (p.Gln3623=) c.5517G= (p.Gln1839=) c.5478G= (p.Gln1826=) c.10992G= (p.Gln3664=) c.10953G= (p.Gln3651=) c.10938G= (p.Gln3646=) c.10899G= (p.Gln3633=) c.10851G= (p.Gln3617=) c.10620G= (p.Gln3540=) c.6657G= (p.Gln2219=) c.5541G= (p.Gln1847=) c.10755G= (p.Gln3585=) | |
| 7 | g.92099830G>T | CA368158933 | AKAP9,CYP51A1 | c.1352-14228C>A (n.1352-14228C>A) c.10857G>T (p.Gln3619His) c.10929G>T (p.Gln3643His) c.3849G>T (p.Gln1283His) n.205G>T c.345G>T (p.Gln115His) n.2935G>T c.5502G>T (p.Gln1834His) c.*1737G>T (n.*1737G>T) c.10833G>T (p.Gln3611His) n.11055G>T c.10803G>T (p.Gln3601His) c.10599G>T (p.Gln3533His) n.12527G>T c.10680G>T (p.Gln3560His) c.10764G>T (p.Gln3588His) c.4496G>T (n.4496G>T) c.10716G>T (p.Gln3572His) c.10896G>T (p.Gln3632His) c.4617G>T (n.4617G>T) c.10866G>T (p.Gln3622His) c.4395G>T (p.Gln1465His) n.2607G>T n.657G>T c.11004G>T (p.Gln3668His) c.11028G>T (p.Gln3676His) c.10968G>T (p.Gln3656His) c.10965G>T (p.Gln3655His) c.10950G>T (p.Gln3650His) c.10989G>T (p.Gln3663His) c.10908G>T (p.Gln3636His) c.10863G>T (p.Gln3621His) c.10893G>T (p.Gln3631His) c.10869G>T (p.Gln3623His) c.5517G>T (p.Gln1839His) c.5478G>T (p.Gln1826His) c.10992G>T (p.Gln3664His) c.10953G>T (p.Gln3651His) c.10938G>T (p.Gln3646His) c.10899G>T (p.Gln3633His) c.10851G>T (p.Gln3617His) c.10620G>T (p.Gln3540His) c.6657G>T (p.Gln2219His) c.5541G>T (p.Gln1847His) c.10755G>T (p.Gln3585His) | gnomAD v4 |
| 7 | g.92099831A= | CA1725766502 | AKAP9,CYP51A1 | c.1352-14229T= (n.1352-14229T=) c.10858A= (p.Ile3620=) c.10930A= (p.Ile3644=) c.3850A= (p.Ile1284=) n.206A= c.346A= (p.Ile116=) n.2936A= c.5503A= (p.Ile1835=) c.*1738A= (n.*1738A=) c.10834A= (p.Ile3612=) n.11056A= c.10804A= (p.Ile3602=) c.10600A= (p.Ile3534=) n.12528A= c.10681A= (p.Ile3561=) c.10765A= (p.Ile3589=) c.4497A= (n.4497A=) c.10717A= (p.Ile3573=) c.10897A= (p.Ile3633=) c.4618A= (n.4618A=) c.10867A= (p.Ile3623=) c.4396A= (p.Ile1466=) n.2608A= n.658A= c.11005A= (p.Ile3669=) c.11029A= (p.Ile3677=) c.10969A= (p.Ile3657=) c.10966A= (p.Ile3656=) c.10951A= (p.Ile3651=) c.10990A= (p.Ile3664=) c.10909A= (p.Ile3637=) c.10864A= (p.Ile3622=) c.10894A= (p.Ile3632=) c.10870A= (p.Ile3624=) c.5518A= (p.Ile1840=) c.5479A= (p.Ile1827=) c.10993A= (p.Ile3665=) c.10954A= (p.Ile3652=) c.10939A= (p.Ile3647=) c.10900A= (p.Ile3634=) c.10852A= (p.Ile3618=) c.10621A= (p.Ile3541=) c.6658A= (p.Ile2220=) c.5542A= (p.Ile1848=) c.10756A= (p.Ile3586=) | |
| 7 | g.92099831A>C | CA368158937 | AKAP9,CYP51A1 | c.1352-14229T>G (n.1352-14229T>G) c.10858A>C (p.Ile3620Leu) c.10930A>C (p.Ile3644Leu) c.3850A>C (p.Ile1284Leu) n.206A>C c.346A>C (p.Ile116Leu) n.2936A>C c.5503A>C (p.Ile1835Leu) c.*1738A>C (n.*1738A>C) c.10834A>C (p.Ile3612Leu) n.11056A>C c.10804A>C (p.Ile3602Leu) c.10600A>C (p.Ile3534Leu) n.12528A>C c.10681A>C (p.Ile3561Leu) c.10765A>C (p.Ile3589Leu) c.4497A>C (n.4497A>C) c.10717A>C (p.Ile3573Leu) c.10897A>C (p.Ile3633Leu) c.4618A>C (n.4618A>C) c.10867A>C (p.Ile3623Leu) c.4396A>C (p.Ile1466Leu) n.2608A>C n.658A>C c.11005A>C (p.Ile3669Leu) c.11029A>C (p.Ile3677Leu) c.10969A>C (p.Ile3657Leu) c.10966A>C (p.Ile3656Leu) c.10951A>C (p.Ile3651Leu) c.10990A>C (p.Ile3664Leu) c.10909A>C (p.Ile3637Leu) c.10864A>C (p.Ile3622Leu) c.10894A>C (p.Ile3632Leu) c.10870A>C (p.Ile3624Leu) c.5518A>C (p.Ile1840Leu) c.5479A>C (p.Ile1827Leu) c.10993A>C (p.Ile3665Leu) c.10954A>C (p.Ile3652Leu) c.10939A>C (p.Ile3647Leu) c.10900A>C (p.Ile3634Leu) c.10852A>C (p.Ile3618Leu) c.10621A>C (p.Ile3541Leu) c.6658A>C (p.Ile2220Leu) c.5542A>C (p.Ile1848Leu) c.10756A>C (p.Ile3586Leu) | |
| 7 | g.92099831A>G | CA199867 | AKAP9,CYP51A1 | c.1352-14229T>C (n.1352-14229T>C) c.10858A>G (p.Ile3620Val) c.10930A>G (p.Ile3644Val) c.3850A>G (p.Ile1284Val) n.206A>G c.346A>G (p.Ile116Val) n.2936A>G c.5503A>G (p.Ile1835Val) c.*1738A>G (n.*1738A>G) c.10834A>G (p.Ile3612Val) n.11056A>G c.10804A>G (p.Ile3602Val) c.10600A>G (p.Ile3534Val) n.12528A>G c.10681A>G (p.Ile3561Val) c.10765A>G (p.Ile3589Val) c.4497A>G (n.4497A>G) c.10717A>G (p.Ile3573Val) c.10897A>G (p.Ile3633Val) c.4618A>G (n.4618A>G) c.10867A>G (p.Ile3623Val) c.4396A>G (p.Ile1466Val) n.2608A>G n.658A>G c.11005A>G (p.Ile3669Val) c.11029A>G (p.Ile3677Val) c.10969A>G (p.Ile3657Val) c.10966A>G (p.Ile3656Val) c.10951A>G (p.Ile3651Val) c.10990A>G (p.Ile3664Val) c.10909A>G (p.Ile3637Val) c.10864A>G (p.Ile3622Val) c.10894A>G (p.Ile3632Val) c.10870A>G (p.Ile3624Val) c.5518A>G (p.Ile1840Val) c.5479A>G (p.Ile1827Val) c.10993A>G (p.Ile3665Val) c.10954A>G (p.Ile3652Val) c.10939A>G (p.Ile3647Val) c.10900A>G (p.Ile3634Val) c.10852A>G (p.Ile3618Val) c.10621A>G (p.Ile3541Val) c.6658A>G (p.Ile2220Val) c.5542A>G (p.Ile1848Val) c.10756A>G (p.Ile3586Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92099831A>T | CA368158935 | AKAP9,CYP51A1 | c.1352-14229T>A (n.1352-14229T>A) c.10858A>T (p.Ile3620Phe) c.10930A>T (p.Ile3644Phe) c.3850A>T (p.Ile1284Phe) n.206A>T c.346A>T (p.Ile116Phe) n.2936A>T c.5503A>T (p.Ile1835Phe) c.*1738A>T (n.*1738A>T) c.10834A>T (p.Ile3612Phe) n.11056A>T c.10804A>T (p.Ile3602Phe) c.10600A>T (p.Ile3534Phe) n.12528A>T c.10681A>T (p.Ile3561Phe) c.10765A>T (p.Ile3589Phe) c.4497A>T (n.4497A>T) c.10717A>T (p.Ile3573Phe) c.10897A>T (p.Ile3633Phe) c.4618A>T (n.4618A>T) c.10867A>T (p.Ile3623Phe) c.4396A>T (p.Ile1466Phe) n.2608A>T n.658A>T c.11005A>T (p.Ile3669Phe) c.11029A>T (p.Ile3677Phe) c.10969A>T (p.Ile3657Phe) c.10966A>T (p.Ile3656Phe) c.10951A>T (p.Ile3651Phe) c.10990A>T (p.Ile3664Phe) c.10909A>T (p.Ile3637Phe) c.10864A>T (p.Ile3622Phe) c.10894A>T (p.Ile3632Phe) c.10870A>T (p.Ile3624Phe) c.5518A>T (p.Ile1840Phe) c.5479A>T (p.Ile1827Phe) c.10993A>T (p.Ile3665Phe) c.10954A>T (p.Ile3652Phe) c.10939A>T (p.Ile3647Phe) c.10900A>T (p.Ile3634Phe) c.10852A>T (p.Ile3618Phe) c.10621A>T (p.Ile3541Phe) c.6658A>T (p.Ile2220Phe) c.5542A>T (p.Ile1848Phe) c.10756A>T (p.Ile3586Phe) | |
| 7 | g.92099832T>A | CA368158942 | AKAP9,CYP51A1 | c.1352-14230A>T (n.1352-14230A>T) c.10859T>A (p.Ile3620Asn) c.10931T>A (p.Ile3644Asn) c.3851T>A (p.Ile1284Asn) n.207T>A c.347T>A (p.Ile116Asn) n.2937T>A c.5504T>A (p.Ile1835Asn) c.*1739T>A (n.*1739T>A) c.10835T>A (p.Ile3612Asn) n.11057T>A c.10805T>A (p.Ile3602Asn) c.10601T>A (p.Ile3534Asn) n.12529T>A c.10682T>A (p.Ile3561Asn) c.10766T>A (p.Ile3589Asn) c.4498T>A (n.4498T>A) c.10718T>A (p.Ile3573Asn) c.10898T>A (p.Ile3633Asn) c.4619T>A (n.4619T>A) c.10868T>A (p.Ile3623Asn) c.4397T>A (p.Ile1466Asn) n.2609T>A n.659T>A c.11006T>A (p.Ile3669Asn) c.11030T>A (p.Ile3677Asn) c.10970T>A (p.Ile3657Asn) c.10967T>A (p.Ile3656Asn) c.10952T>A (p.Ile3651Asn) c.10991T>A (p.Ile3664Asn) c.10910T>A (p.Ile3637Asn) c.10865T>A (p.Ile3622Asn) c.10895T>A (p.Ile3632Asn) c.10871T>A (p.Ile3624Asn) c.5519T>A (p.Ile1840Asn) c.5480T>A (p.Ile1827Asn) c.10994T>A (p.Ile3665Asn) c.10955T>A (p.Ile3652Asn) c.10940T>A (p.Ile3647Asn) c.10901T>A (p.Ile3634Asn) c.10853T>A (p.Ile3618Asn) c.10622T>A (p.Ile3541Asn) c.6659T>A (p.Ile2220Asn) c.5543T>A (p.Ile1848Asn) c.10757T>A (p.Ile3586Asn) | |
| 7 | g.92099832T>C | CA368158939 | AKAP9,CYP51A1 | c.1352-14230A>G (n.1352-14230A>G) c.10859T>C (p.Ile3620Thr) c.10931T>C (p.Ile3644Thr) c.3851T>C (p.Ile1284Thr) n.207T>C c.347T>C (p.Ile116Thr) n.2937T>C c.5504T>C (p.Ile1835Thr) c.*1739T>C (n.*1739T>C) c.10835T>C (p.Ile3612Thr) n.11057T>C c.10805T>C (p.Ile3602Thr) c.10601T>C (p.Ile3534Thr) n.12529T>C c.10682T>C (p.Ile3561Thr) c.10766T>C (p.Ile3589Thr) c.4498T>C (n.4498T>C) c.10718T>C (p.Ile3573Thr) c.10898T>C (p.Ile3633Thr) c.4619T>C (n.4619T>C) c.10868T>C (p.Ile3623Thr) c.4397T>C (p.Ile1466Thr) n.2609T>C n.659T>C c.11006T>C (p.Ile3669Thr) c.11030T>C (p.Ile3677Thr) c.10970T>C (p.Ile3657Thr) c.10967T>C (p.Ile3656Thr) c.10952T>C (p.Ile3651Thr) c.10991T>C (p.Ile3664Thr) c.10910T>C (p.Ile3637Thr) c.10865T>C (p.Ile3622Thr) c.10895T>C (p.Ile3632Thr) c.10871T>C (p.Ile3624Thr) c.5519T>C (p.Ile1840Thr) c.5480T>C (p.Ile1827Thr) c.10994T>C (p.Ile3665Thr) c.10955T>C (p.Ile3652Thr) c.10940T>C (p.Ile3647Thr) c.10901T>C (p.Ile3634Thr) c.10853T>C (p.Ile3618Thr) c.10622T>C (p.Ile3541Thr) c.6659T>C (p.Ile2220Thr) c.5543T>C (p.Ile1848Thr) c.10757T>C (p.Ile3586Thr) | ClinVar dbSNP |