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.92099718G>A | CA368158406 | AKAP9,CYP51A1 | c.1352-14116C>T (n.1352-14116C>T) c.10745G>A (p.Gly3582Asp) c.10817G>A (p.Gly3606Asp) c.3737G>A (p.Gly1246Asp) n.93G>A c.233G>A (p.Gly78Asp) n.2823G>A c.5390G>A (p.Gly1797Asp) c.*1625G>A (n.*1625G>A) c.10721G>A (p.Gly3574Asp) n.10943G>A c.10691G>A (p.Gly3564Asp) c.10487G>A (p.Gly3496Asp) n.12415G>A c.10568G>A (p.Gly3523Asp) c.10652G>A (p.Gly3551Asp) c.4384G>A (n.4384G>A) c.10604G>A (p.Gly3535Asp) c.10784G>A (p.Gly3595Asp) c.4505G>A (n.4505G>A) c.10754G>A (p.Gly3585Asp) c.4283G>A (p.Gly1428Asp) n.2495G>A n.545G>A c.10892G>A (p.Gly3631Asp) c.10916G>A (p.Gly3639Asp) c.10856G>A (p.Gly3619Asp) c.10853G>A (p.Gly3618Asp) c.10838G>A (p.Gly3613Asp) c.10877G>A (p.Gly3626Asp) c.10796G>A (p.Gly3599Asp) c.10751G>A (p.Gly3584Asp) c.10781G>A (p.Gly3594Asp) c.10757G>A (p.Gly3586Asp) c.5405G>A (p.Gly1802Asp) c.5366G>A (p.Gly1789Asp) c.10880G>A (p.Gly3627Asp) c.10841G>A (p.Gly3614Asp) c.10826G>A (p.Gly3609Asp) c.10787G>A (p.Gly3596Asp) c.10739G>A (p.Gly3580Asp) c.10508G>A (p.Gly3503Asp) c.6545G>A (p.Gly2182Asp) c.5429G>A (p.Gly1810Asp) c.10643G>A (p.Gly3548Asp) | |
| 7 | g.92099718G>C | CA368158411 | AKAP9,CYP51A1 | c.1352-14116C>G (n.1352-14116C>G) c.10745G>C (p.Gly3582Ala) c.10817G>C (p.Gly3606Ala) c.3737G>C (p.Gly1246Ala) n.93G>C c.233G>C (p.Gly78Ala) n.2823G>C c.5390G>C (p.Gly1797Ala) c.*1625G>C (n.*1625G>C) c.10721G>C (p.Gly3574Ala) n.10943G>C c.10691G>C (p.Gly3564Ala) c.10487G>C (p.Gly3496Ala) n.12415G>C c.10568G>C (p.Gly3523Ala) c.10652G>C (p.Gly3551Ala) c.4384G>C (n.4384G>C) c.10604G>C (p.Gly3535Ala) c.10784G>C (p.Gly3595Ala) c.4505G>C (n.4505G>C) c.10754G>C (p.Gly3585Ala) c.4283G>C (p.Gly1428Ala) n.2495G>C n.545G>C c.10892G>C (p.Gly3631Ala) c.10916G>C (p.Gly3639Ala) c.10856G>C (p.Gly3619Ala) c.10853G>C (p.Gly3618Ala) c.10838G>C (p.Gly3613Ala) c.10877G>C (p.Gly3626Ala) c.10796G>C (p.Gly3599Ala) c.10751G>C (p.Gly3584Ala) c.10781G>C (p.Gly3594Ala) c.10757G>C (p.Gly3586Ala) c.5405G>C (p.Gly1802Ala) c.5366G>C (p.Gly1789Ala) c.10880G>C (p.Gly3627Ala) c.10841G>C (p.Gly3614Ala) c.10826G>C (p.Gly3609Ala) c.10787G>C (p.Gly3596Ala) c.10739G>C (p.Gly3580Ala) c.10508G>C (p.Gly3503Ala) c.6545G>C (p.Gly2182Ala) c.5429G>C (p.Gly1810Ala) c.10643G>C (p.Gly3548Ala) | gnomAD v4 |
| 7 | g.92099718G>T | CA368158408 | AKAP9,CYP51A1 | c.1352-14116C>A (n.1352-14116C>A) c.10745G>T (p.Gly3582Val) c.10817G>T (p.Gly3606Val) c.3737G>T (p.Gly1246Val) n.93G>T c.233G>T (p.Gly78Val) n.2823G>T c.5390G>T (p.Gly1797Val) c.*1625G>T (n.*1625G>T) c.10721G>T (p.Gly3574Val) n.10943G>T c.10691G>T (p.Gly3564Val) c.10487G>T (p.Gly3496Val) n.12415G>T c.10568G>T (p.Gly3523Val) c.10652G>T (p.Gly3551Val) c.4384G>T (n.4384G>T) c.10604G>T (p.Gly3535Val) c.10784G>T (p.Gly3595Val) c.4505G>T (n.4505G>T) c.10754G>T (p.Gly3585Val) c.4283G>T (p.Gly1428Val) n.2495G>T n.545G>T c.10892G>T (p.Gly3631Val) c.10916G>T (p.Gly3639Val) c.10856G>T (p.Gly3619Val) c.10853G>T (p.Gly3618Val) c.10838G>T (p.Gly3613Val) c.10877G>T (p.Gly3626Val) c.10796G>T (p.Gly3599Val) c.10751G>T (p.Gly3584Val) c.10781G>T (p.Gly3594Val) c.10757G>T (p.Gly3586Val) c.5405G>T (p.Gly1802Val) c.5366G>T (p.Gly1789Val) c.10880G>T (p.Gly3627Val) c.10841G>T (p.Gly3614Val) c.10826G>T (p.Gly3609Val) c.10787G>T (p.Gly3596Val) c.10739G>T (p.Gly3580Val) c.10508G>T (p.Gly3503Val) c.6545G>T (p.Gly2182Val) c.5429G>T (p.Gly1810Val) c.10643G>T (p.Gly3548Val) | |
| 7 | g.92099719C>A | CA456454110 | AKAP9,CYP51A1 | c.1352-14117G>T (n.1352-14117G>T) c.10746C>A (p.Gly3582=) c.10818C>A (p.Gly3606=) c.3738C>A (p.Gly1246=) n.94C>A c.234C>A (p.Gly78=) n.2824C>A c.5391C>A (p.Gly1797=) c.*1626C>A (n.*1626C>A) c.10722C>A (p.Gly3574=) n.10944C>A c.10692C>A (p.Gly3564=) c.10488C>A (p.Gly3496=) n.12416C>A c.10569C>A (p.Gly3523=) c.10653C>A (p.Gly3551=) c.4385C>A (n.4385C>A) c.10605C>A (p.Gly3535=) c.10785C>A (p.Gly3595=) c.4506C>A (n.4506C>A) c.10755C>A (p.Gly3585=) c.4284C>A (p.Gly1428=) n.2496C>A n.546C>A c.10893C>A (p.Gly3631=) c.10917C>A (p.Gly3639=) c.10857C>A (p.Gly3619=) c.10854C>A (p.Gly3618=) c.10839C>A (p.Gly3613=) c.10878C>A (p.Gly3626=) c.10797C>A (p.Gly3599=) c.10752C>A (p.Gly3584=) c.10782C>A (p.Gly3594=) c.10758C>A (p.Gly3586=) c.5406C>A (p.Gly1802=) c.5367C>A (p.Gly1789=) c.10881C>A (p.Gly3627=) c.10842C>A (p.Gly3614=) c.10827C>A (p.Gly3609=) c.10788C>A (p.Gly3596=) c.10740C>A (p.Gly3580=) c.10509C>A (p.Gly3503=) c.6546C>A (p.Gly2182=) c.5430C>A (p.Gly1810=) c.10644C>A (p.Gly3548=) | |
| 7 | g.92099719C= | CA1725766245 | AKAP9,CYP51A1 | c.1352-14117G= (n.1352-14117G=) c.10746C= (p.Gly3582=) c.10818C= (p.Gly3606=) c.3738C= (p.Gly1246=) n.94C= c.234C= (p.Gly78=) n.2824C= c.5391C= (p.Gly1797=) c.*1626C= (n.*1626C=) c.10722C= (p.Gly3574=) n.10944C= c.10692C= (p.Gly3564=) c.10488C= (p.Gly3496=) n.12416C= c.10569C= (p.Gly3523=) c.10653C= (p.Gly3551=) c.4385C= (n.4385C=) c.10605C= (p.Gly3535=) c.10785C= (p.Gly3595=) c.4506C= (n.4506C=) c.10755C= (p.Gly3585=) c.4284C= (p.Gly1428=) n.2496C= n.546C= c.10893C= (p.Gly3631=) c.10917C= (p.Gly3639=) c.10857C= (p.Gly3619=) c.10854C= (p.Gly3618=) c.10839C= (p.Gly3613=) c.10878C= (p.Gly3626=) c.10797C= (p.Gly3599=) c.10752C= (p.Gly3584=) c.10782C= (p.Gly3594=) c.10758C= (p.Gly3586=) c.5406C= (p.Gly1802=) c.5367C= (p.Gly1789=) c.10881C= (p.Gly3627=) c.10842C= (p.Gly3614=) c.10827C= (p.Gly3609=) c.10788C= (p.Gly3596=) c.10740C= (p.Gly3580=) c.10509C= (p.Gly3503=) c.6546C= (p.Gly2182=) c.5430C= (p.Gly1810=) c.10644C= (p.Gly3548=) | |
| 7 | g.92099719C>G | CA456454109 | AKAP9,CYP51A1 | c.1352-14117G>C (n.1352-14117G>C) c.10746C>G (p.Gly3582=) c.10818C>G (p.Gly3606=) c.3738C>G (p.Gly1246=) n.94C>G c.234C>G (p.Gly78=) n.2824C>G c.5391C>G (p.Gly1797=) c.*1626C>G (n.*1626C>G) c.10722C>G (p.Gly3574=) n.10944C>G c.10692C>G (p.Gly3564=) c.10488C>G (p.Gly3496=) n.12416C>G c.10569C>G (p.Gly3523=) c.10653C>G (p.Gly3551=) c.4385C>G (n.4385C>G) c.10605C>G (p.Gly3535=) c.10785C>G (p.Gly3595=) c.4506C>G (n.4506C>G) c.10755C>G (p.Gly3585=) c.4284C>G (p.Gly1428=) n.2496C>G n.546C>G c.10893C>G (p.Gly3631=) c.10917C>G (p.Gly3639=) c.10857C>G (p.Gly3619=) c.10854C>G (p.Gly3618=) c.10839C>G (p.Gly3613=) c.10878C>G (p.Gly3626=) c.10797C>G (p.Gly3599=) c.10752C>G (p.Gly3584=) c.10782C>G (p.Gly3594=) c.10758C>G (p.Gly3586=) c.5406C>G (p.Gly1802=) c.5367C>G (p.Gly1789=) c.10881C>G (p.Gly3627=) c.10842C>G (p.Gly3614=) c.10827C>G (p.Gly3609=) c.10788C>G (p.Gly3596=) c.10740C>G (p.Gly3580=) c.10509C>G (p.Gly3503=) c.6546C>G (p.Gly2182=) c.5430C>G (p.Gly1810=) c.10644C>G (p.Gly3548=) | |
| 7 | g.92099719C>T | CA4338021 | AKAP9,CYP51A1 | c.1352-14117G>A (n.1352-14117G>A) c.10746C>T (p.Gly3582=) c.10818C>T (p.Gly3606=) c.3738C>T (p.Gly1246=) n.94C>T c.234C>T (p.Gly78=) n.2824C>T c.5391C>T (p.Gly1797=) c.*1626C>T (n.*1626C>T) c.10722C>T (p.Gly3574=) n.10944C>T c.10692C>T (p.Gly3564=) c.10488C>T (p.Gly3496=) n.12416C>T c.10569C>T (p.Gly3523=) c.10653C>T (p.Gly3551=) c.4385C>T (n.4385C>T) c.10605C>T (p.Gly3535=) c.10785C>T (p.Gly3595=) c.4506C>T (n.4506C>T) c.10755C>T (p.Gly3585=) c.4284C>T (p.Gly1428=) n.2496C>T n.546C>T c.10893C>T (p.Gly3631=) c.10917C>T (p.Gly3639=) c.10857C>T (p.Gly3619=) c.10854C>T (p.Gly3618=) c.10839C>T (p.Gly3613=) c.10878C>T (p.Gly3626=) c.10797C>T (p.Gly3599=) c.10752C>T (p.Gly3584=) c.10782C>T (p.Gly3594=) c.10758C>T (p.Gly3586=) c.5406C>T (p.Gly1802=) c.5367C>T (p.Gly1789=) c.10881C>T (p.Gly3627=) c.10842C>T (p.Gly3614=) c.10827C>T (p.Gly3609=) c.10788C>T (p.Gly3596=) c.10740C>T (p.Gly3580=) c.10509C>T (p.Gly3503=) c.6546C>T (p.Gly2182=) c.5430C>T (p.Gly1810=) c.10644C>T (p.Gly3548=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92099720T>A | CA368158413 | AKAP9,CYP51A1 | c.1352-14118A>T (n.1352-14118A>T) c.10747T>A (p.Ser3583Thr) c.10819T>A (p.Ser3607Thr) c.3739T>A (p.Ser1247Thr) n.95T>A c.235T>A (p.Ser79Thr) n.2825T>A c.5392T>A (p.Ser1798Thr) c.*1627T>A (n.*1627T>A) c.10723T>A (p.Ser3575Thr) n.10945T>A c.10693T>A (p.Ser3565Thr) c.10489T>A (p.Ser3497Thr) n.12417T>A c.10570T>A (p.Ser3524Thr) c.10654T>A (p.Ser3552Thr) c.4386T>A (n.4386T>A) c.10606T>A (p.Ser3536Thr) c.10786T>A (p.Ser3596Thr) c.4507T>A (n.4507T>A) c.10756T>A (p.Ser3586Thr) c.4285T>A (p.Ser1429Thr) n.2497T>A n.547T>A c.10894T>A (p.Ser3632Thr) c.10918T>A (p.Ser3640Thr) c.10858T>A (p.Ser3620Thr) c.10855T>A (p.Ser3619Thr) c.10840T>A (p.Ser3614Thr) c.10879T>A (p.Ser3627Thr) c.10798T>A (p.Ser3600Thr) c.10753T>A (p.Ser3585Thr) c.10783T>A (p.Ser3595Thr) c.10759T>A (p.Ser3587Thr) c.5407T>A (p.Ser1803Thr) c.5368T>A (p.Ser1790Thr) c.10882T>A (p.Ser3628Thr) c.10843T>A (p.Ser3615Thr) c.10828T>A (p.Ser3610Thr) c.10789T>A (p.Ser3597Thr) c.10741T>A (p.Ser3581Thr) c.10510T>A (p.Ser3504Thr) c.6547T>A (p.Ser2183Thr) c.5431T>A (p.Ser1811Thr) c.10645T>A (p.Ser3549Thr) | |
| 7 | g.92099720T>C | CA368158415 | AKAP9,CYP51A1 | c.1352-14118A>G (n.1352-14118A>G) c.10747T>C (p.Ser3583Pro) c.10819T>C (p.Ser3607Pro) c.3739T>C (p.Ser1247Pro) n.95T>C c.235T>C (p.Ser79Pro) n.2825T>C c.5392T>C (p.Ser1798Pro) c.*1627T>C (n.*1627T>C) c.10723T>C (p.Ser3575Pro) n.10945T>C c.10693T>C (p.Ser3565Pro) c.10489T>C (p.Ser3497Pro) n.12417T>C c.10570T>C (p.Ser3524Pro) c.10654T>C (p.Ser3552Pro) c.4386T>C (n.4386T>C) c.10606T>C (p.Ser3536Pro) c.10786T>C (p.Ser3596Pro) c.4507T>C (n.4507T>C) c.10756T>C (p.Ser3586Pro) c.4285T>C (p.Ser1429Pro) n.2497T>C n.547T>C c.10894T>C (p.Ser3632Pro) c.10918T>C (p.Ser3640Pro) c.10858T>C (p.Ser3620Pro) c.10855T>C (p.Ser3619Pro) c.10840T>C (p.Ser3614Pro) c.10879T>C (p.Ser3627Pro) c.10798T>C (p.Ser3600Pro) c.10753T>C (p.Ser3585Pro) c.10783T>C (p.Ser3595Pro) c.10759T>C (p.Ser3587Pro) c.5407T>C (p.Ser1803Pro) c.5368T>C (p.Ser1790Pro) c.10882T>C (p.Ser3628Pro) c.10843T>C (p.Ser3615Pro) c.10828T>C (p.Ser3610Pro) c.10789T>C (p.Ser3597Pro) c.10741T>C (p.Ser3581Pro) c.10510T>C (p.Ser3504Pro) c.6547T>C (p.Ser2183Pro) c.5431T>C (p.Ser1811Pro) c.10645T>C (p.Ser3549Pro) | |
| 7 | g.92099720T>G | CA368158417 | AKAP9,CYP51A1 | c.1352-14118A>C (n.1352-14118A>C) c.10747T>G (p.Ser3583Ala) c.10819T>G (p.Ser3607Ala) c.3739T>G (p.Ser1247Ala) n.95T>G c.235T>G (p.Ser79Ala) n.2825T>G c.5392T>G (p.Ser1798Ala) c.*1627T>G (n.*1627T>G) c.10723T>G (p.Ser3575Ala) n.10945T>G c.10693T>G (p.Ser3565Ala) c.10489T>G (p.Ser3497Ala) n.12417T>G c.10570T>G (p.Ser3524Ala) c.10654T>G (p.Ser3552Ala) c.4386T>G (n.4386T>G) c.10606T>G (p.Ser3536Ala) c.10786T>G (p.Ser3596Ala) c.4507T>G (n.4507T>G) c.10756T>G (p.Ser3586Ala) c.4285T>G (p.Ser1429Ala) n.2497T>G n.547T>G c.10894T>G (p.Ser3632Ala) c.10918T>G (p.Ser3640Ala) c.10858T>G (p.Ser3620Ala) c.10855T>G (p.Ser3619Ala) c.10840T>G (p.Ser3614Ala) c.10879T>G (p.Ser3627Ala) c.10798T>G (p.Ser3600Ala) c.10753T>G (p.Ser3585Ala) c.10783T>G (p.Ser3595Ala) c.10759T>G (p.Ser3587Ala) c.5407T>G (p.Ser1803Ala) c.5368T>G (p.Ser1790Ala) c.10882T>G (p.Ser3628Ala) c.10843T>G (p.Ser3615Ala) c.10828T>G (p.Ser3610Ala) c.10789T>G (p.Ser3597Ala) c.10741T>G (p.Ser3581Ala) c.10510T>G (p.Ser3504Ala) c.6547T>G (p.Ser2183Ala) c.5431T>G (p.Ser1811Ala) c.10645T>G (p.Ser3549Ala) | |
| 7 | g.92099721C>A | CA368158420 | AKAP9,CYP51A1 | c.1352-14119G>T (n.1352-14119G>T) c.10748C>A (p.Ser3583Ter) c.10820C>A (p.Ser3607Ter) c.3740C>A (p.Ser1247Ter) n.96C>A c.236C>A (p.Ser79Ter) n.2826C>A c.5393C>A (p.Ser1798Ter) c.*1628C>A (n.*1628C>A) c.10724C>A (p.Ser3575Ter) n.10946C>A c.10694C>A (p.Ser3565Ter) c.10490C>A (p.Ser3497Ter) n.12418C>A c.10571C>A (p.Ser3524Ter) c.10655C>A (p.Ser3552Ter) c.4387C>A (n.4387C>A) c.10607C>A (p.Ser3536Ter) c.10787C>A (p.Ser3596Ter) c.4508C>A (n.4508C>A) c.10757C>A (p.Ser3586Ter) c.4286C>A (p.Ser1429Ter) n.2498C>A n.548C>A c.10895C>A (p.Ser3632Ter) c.10919C>A (p.Ser3640Ter) c.10859C>A (p.Ser3620Ter) c.10856C>A (p.Ser3619Ter) c.10841C>A (p.Ser3614Ter) c.10880C>A (p.Ser3627Ter) c.10799C>A (p.Ser3600Ter) c.10754C>A (p.Ser3585Ter) c.10784C>A (p.Ser3595Ter) c.10760C>A (p.Ser3587Ter) c.5408C>A (p.Ser1803Ter) c.5369C>A (p.Ser1790Ter) c.10883C>A (p.Ser3628Ter) c.10844C>A (p.Ser3615Ter) c.10829C>A (p.Ser3610Ter) c.10790C>A (p.Ser3597Ter) c.10742C>A (p.Ser3581Ter) c.10511C>A (p.Ser3504Ter) c.6548C>A (p.Ser2183Ter) c.5432C>A (p.Ser1811Ter) c.10646C>A (p.Ser3549Ter) | |
| 7 | g.92099721C= | CA1725766249 | AKAP9,CYP51A1 | c.1352-14119G= (n.1352-14119G=) c.10748C= (p.Ser3583=) c.10820C= (p.Ser3607=) c.3740C= (p.Ser1247=) n.96C= c.236C= (p.Ser79=) n.2826C= c.5393C= (p.Ser1798=) c.*1628C= (n.*1628C=) c.10724C= (p.Ser3575=) n.10946C= c.10694C= (p.Ser3565=) c.10490C= (p.Ser3497=) n.12418C= c.10571C= (p.Ser3524=) c.10655C= (p.Ser3552=) c.4387C= (n.4387C=) c.10607C= (p.Ser3536=) c.10787C= (p.Ser3596=) c.4508C= (n.4508C=) c.10757C= (p.Ser3586=) c.4286C= (p.Ser1429=) n.2498C= n.548C= c.10895C= (p.Ser3632=) c.10919C= (p.Ser3640=) c.10859C= (p.Ser3620=) c.10856C= (p.Ser3619=) c.10841C= (p.Ser3614=) c.10880C= (p.Ser3627=) c.10799C= (p.Ser3600=) c.10754C= (p.Ser3585=) c.10784C= (p.Ser3595=) c.10760C= (p.Ser3587=) c.5408C= (p.Ser1803=) c.5369C= (p.Ser1790=) c.10883C= (p.Ser3628=) c.10844C= (p.Ser3615=) c.10829C= (p.Ser3610=) c.10790C= (p.Ser3597=) c.10742C= (p.Ser3581=) c.10511C= (p.Ser3504=) c.6548C= (p.Ser2183=) c.5432C= (p.Ser1811=) c.10646C= (p.Ser3549=) | |
| 7 | g.92099721C>G | CA368158423 | AKAP9,CYP51A1 | c.1352-14119G>C (n.1352-14119G>C) c.10748C>G (p.Ser3583Ter) c.10820C>G (p.Ser3607Ter) c.3740C>G (p.Ser1247Ter) n.96C>G c.236C>G (p.Ser79Ter) n.2826C>G c.5393C>G (p.Ser1798Ter) c.*1628C>G (n.*1628C>G) c.10724C>G (p.Ser3575Ter) n.10946C>G c.10694C>G (p.Ser3565Ter) c.10490C>G (p.Ser3497Ter) n.12418C>G c.10571C>G (p.Ser3524Ter) c.10655C>G (p.Ser3552Ter) c.4387C>G (n.4387C>G) c.10607C>G (p.Ser3536Ter) c.10787C>G (p.Ser3596Ter) c.4508C>G (n.4508C>G) c.10757C>G (p.Ser3586Ter) c.4286C>G (p.Ser1429Ter) n.2498C>G n.548C>G c.10895C>G (p.Ser3632Ter) c.10919C>G (p.Ser3640Ter) c.10859C>G (p.Ser3620Ter) c.10856C>G (p.Ser3619Ter) c.10841C>G (p.Ser3614Ter) c.10880C>G (p.Ser3627Ter) c.10799C>G (p.Ser3600Ter) c.10754C>G (p.Ser3585Ter) c.10784C>G (p.Ser3595Ter) c.10760C>G (p.Ser3587Ter) c.5408C>G (p.Ser1803Ter) c.5369C>G (p.Ser1790Ter) c.10883C>G (p.Ser3628Ter) c.10844C>G (p.Ser3615Ter) c.10829C>G (p.Ser3610Ter) c.10790C>G (p.Ser3597Ter) c.10742C>G (p.Ser3581Ter) c.10511C>G (p.Ser3504Ter) c.6548C>G (p.Ser2183Ter) c.5432C>G (p.Ser1811Ter) c.10646C>G (p.Ser3549Ter) | |
| 7 | g.92099721C>T | CA4338022 | AKAP9,CYP51A1 | c.1352-14119G>A (n.1352-14119G>A) c.10748C>T (p.Ser3583Leu) c.10820C>T (p.Ser3607Leu) c.3740C>T (p.Ser1247Leu) n.96C>T c.236C>T (p.Ser79Leu) n.2826C>T c.5393C>T (p.Ser1798Leu) c.*1628C>T (n.*1628C>T) c.10724C>T (p.Ser3575Leu) n.10946C>T c.10694C>T (p.Ser3565Leu) c.10490C>T (p.Ser3497Leu) n.12418C>T c.10571C>T (p.Ser3524Leu) c.10655C>T (p.Ser3552Leu) c.4387C>T (n.4387C>T) c.10607C>T (p.Ser3536Leu) c.10787C>T (p.Ser3596Leu) c.4508C>T (n.4508C>T) c.10757C>T (p.Ser3586Leu) c.4286C>T (p.Ser1429Leu) n.2498C>T n.548C>T c.10895C>T (p.Ser3632Leu) c.10919C>T (p.Ser3640Leu) c.10859C>T (p.Ser3620Leu) c.10856C>T (p.Ser3619Leu) c.10841C>T (p.Ser3614Leu) c.10880C>T (p.Ser3627Leu) c.10799C>T (p.Ser3600Leu) c.10754C>T (p.Ser3585Leu) c.10784C>T (p.Ser3595Leu) c.10760C>T (p.Ser3587Leu) c.5408C>T (p.Ser1803Leu) c.5369C>T (p.Ser1790Leu) c.10883C>T (p.Ser3628Leu) c.10844C>T (p.Ser3615Leu) c.10829C>T (p.Ser3610Leu) c.10790C>T (p.Ser3597Leu) c.10742C>T (p.Ser3581Leu) c.10511C>T (p.Ser3504Leu) c.6548C>T (p.Ser2183Leu) c.5432C>T (p.Ser1811Leu) c.10646C>T (p.Ser3549Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92099722A>C | CA456454114 | AKAP9,CYP51A1 | c.1352-14120T>G (n.1352-14120T>G) c.10749A>C (p.Ser3583=) c.10821A>C (p.Ser3607=) c.3741A>C (p.Ser1247=) n.97A>C c.237A>C (p.Ser79=) n.2827A>C c.5394A>C (p.Ser1798=) c.*1629A>C (n.*1629A>C) c.10725A>C (p.Ser3575=) n.10947A>C c.10695A>C (p.Ser3565=) c.10491A>C (p.Ser3497=) n.12419A>C c.10572A>C (p.Ser3524=) c.10656A>C (p.Ser3552=) c.4388A>C (n.4388A>C) c.10608A>C (p.Ser3536=) c.10788A>C (p.Ser3596=) c.4509A>C (n.4509A>C) c.10758A>C (p.Ser3586=) c.4287A>C (p.Ser1429=) n.2499A>C n.549A>C c.10896A>C (p.Ser3632=) c.10920A>C (p.Ser3640=) c.10860A>C (p.Ser3620=) c.10857A>C (p.Ser3619=) c.10842A>C (p.Ser3614=) c.10881A>C (p.Ser3627=) c.10800A>C (p.Ser3600=) c.10755A>C (p.Ser3585=) c.10785A>C (p.Ser3595=) c.10761A>C (p.Ser3587=) c.5409A>C (p.Ser1803=) c.5370A>C (p.Ser1790=) c.10884A>C (p.Ser3628=) c.10845A>C (p.Ser3615=) c.10830A>C (p.Ser3610=) c.10791A>C (p.Ser3597=) c.10743A>C (p.Ser3581=) c.10512A>C (p.Ser3504=) c.6549A>C (p.Ser2183=) c.5433A>C (p.Ser1811=) c.10647A>C (p.Ser3549=) | |
| 7 | g.92099722A>G | CA456454115 | AKAP9,CYP51A1 | c.1352-14120T>C (n.1352-14120T>C) c.10749A>G (p.Ser3583=) c.10821A>G (p.Ser3607=) c.3741A>G (p.Ser1247=) n.97A>G c.237A>G (p.Ser79=) n.2827A>G c.5394A>G (p.Ser1798=) c.*1629A>G (n.*1629A>G) c.10725A>G (p.Ser3575=) n.10947A>G c.10695A>G (p.Ser3565=) c.10491A>G (p.Ser3497=) n.12419A>G c.10572A>G (p.Ser3524=) c.10656A>G (p.Ser3552=) c.4388A>G (n.4388A>G) c.10608A>G (p.Ser3536=) c.10788A>G (p.Ser3596=) c.4509A>G (n.4509A>G) c.10758A>G (p.Ser3586=) c.4287A>G (p.Ser1429=) n.2499A>G n.549A>G c.10896A>G (p.Ser3632=) c.10920A>G (p.Ser3640=) c.10860A>G (p.Ser3620=) c.10857A>G (p.Ser3619=) c.10842A>G (p.Ser3614=) c.10881A>G (p.Ser3627=) c.10800A>G (p.Ser3600=) c.10755A>G (p.Ser3585=) c.10785A>G (p.Ser3595=) c.10761A>G (p.Ser3587=) c.5409A>G (p.Ser1803=) c.5370A>G (p.Ser1790=) c.10884A>G (p.Ser3628=) c.10845A>G (p.Ser3615=) c.10830A>G (p.Ser3610=) c.10791A>G (p.Ser3597=) c.10743A>G (p.Ser3581=) c.10512A>G (p.Ser3504=) c.6549A>G (p.Ser2183=) c.5433A>G (p.Ser1811=) c.10647A>G (p.Ser3549=) | ClinVar |
| 7 | g.92099722A>T | CA456454116 | AKAP9,CYP51A1 | c.1352-14120T>A (n.1352-14120T>A) c.10749A>T (p.Ser3583=) c.10821A>T (p.Ser3607=) c.3741A>T (p.Ser1247=) n.97A>T c.237A>T (p.Ser79=) n.2827A>T c.5394A>T (p.Ser1798=) c.*1629A>T (n.*1629A>T) c.10725A>T (p.Ser3575=) n.10947A>T c.10695A>T (p.Ser3565=) c.10491A>T (p.Ser3497=) n.12419A>T c.10572A>T (p.Ser3524=) c.10656A>T (p.Ser3552=) c.4388A>T (n.4388A>T) c.10608A>T (p.Ser3536=) c.10788A>T (p.Ser3596=) c.4509A>T (n.4509A>T) c.10758A>T (p.Ser3586=) c.4287A>T (p.Ser1429=) n.2499A>T n.549A>T c.10896A>T (p.Ser3632=) c.10920A>T (p.Ser3640=) c.10860A>T (p.Ser3620=) c.10857A>T (p.Ser3619=) c.10842A>T (p.Ser3614=) c.10881A>T (p.Ser3627=) c.10800A>T (p.Ser3600=) c.10755A>T (p.Ser3585=) c.10785A>T (p.Ser3595=) c.10761A>T (p.Ser3587=) c.5409A>T (p.Ser1803=) c.5370A>T (p.Ser1790=) c.10884A>T (p.Ser3628=) c.10845A>T (p.Ser3615=) c.10830A>T (p.Ser3610=) c.10791A>T (p.Ser3597=) c.10743A>T (p.Ser3581=) c.10512A>T (p.Ser3504=) c.6549A>T (p.Ser2183=) c.5433A>T (p.Ser1811=) c.10647A>T (p.Ser3549=) | gnomAD v4 |
| 7 | g.92099723T>A | CA368158426 | AKAP9,CYP51A1 | c.1352-14121A>T (n.1352-14121A>T) c.10750T>A (p.Leu3584Met) c.10822T>A (p.Leu3608Met) c.3742T>A (p.Leu1248Met) n.98T>A c.238T>A (p.Leu80Met) n.2828T>A c.5395T>A (p.Leu1799Met) c.*1630T>A (n.*1630T>A) c.10726T>A (p.Leu3576Met) n.10948T>A c.10696T>A (p.Leu3566Met) c.10492T>A (p.Leu3498Met) n.12420T>A c.10573T>A (p.Leu3525Met) c.10657T>A (p.Leu3553Met) c.4389T>A (n.4389T>A) c.10609T>A (p.Leu3537Met) c.10789T>A (p.Leu3597Met) c.4510T>A (n.4510T>A) c.10759T>A (p.Leu3587Met) c.4288T>A (p.Leu1430Met) n.2500T>A n.550T>A c.10897T>A (p.Leu3633Met) c.10921T>A (p.Leu3641Met) c.10861T>A (p.Leu3621Met) c.10858T>A (p.Leu3620Met) c.10843T>A (p.Leu3615Met) c.10882T>A (p.Leu3628Met) c.10801T>A (p.Leu3601Met) c.10756T>A (p.Leu3586Met) c.10786T>A (p.Leu3596Met) c.10762T>A (p.Leu3588Met) c.5410T>A (p.Leu1804Met) c.5371T>A (p.Leu1791Met) c.10885T>A (p.Leu3629Met) c.10846T>A (p.Leu3616Met) c.10831T>A (p.Leu3611Met) c.10792T>A (p.Leu3598Met) c.10744T>A (p.Leu3582Met) c.10513T>A (p.Leu3505Met) c.6550T>A (p.Leu2184Met) c.5434T>A (p.Leu1812Met) c.10648T>A (p.Leu3550Met) | |
| 7 | g.92099723T>C | CA4338023 | AKAP9,CYP51A1 | c.1352-14121A>G (n.1352-14121A>G) c.10750T>C (p.Leu3584=) c.10822T>C (p.Leu3608=) c.3742T>C (p.Leu1248=) n.98T>C c.238T>C (p.Leu80=) n.2828T>C c.5395T>C (p.Leu1799=) c.*1630T>C (n.*1630T>C) c.10726T>C (p.Leu3576=) n.10948T>C c.10696T>C (p.Leu3566=) c.10492T>C (p.Leu3498=) n.12420T>C c.10573T>C (p.Leu3525=) c.10657T>C (p.Leu3553=) c.4389T>C (n.4389T>C) c.10609T>C (p.Leu3537=) c.10789T>C (p.Leu3597=) c.4510T>C (n.4510T>C) c.10759T>C (p.Leu3587=) c.4288T>C (p.Leu1430=) n.2500T>C n.550T>C c.10897T>C (p.Leu3633=) c.10921T>C (p.Leu3641=) c.10861T>C (p.Leu3621=) c.10858T>C (p.Leu3620=) c.10843T>C (p.Leu3615=) c.10882T>C (p.Leu3628=) c.10801T>C (p.Leu3601=) c.10756T>C (p.Leu3586=) c.10786T>C (p.Leu3596=) c.10762T>C (p.Leu3588=) c.5410T>C (p.Leu1804=) c.5371T>C (p.Leu1791=) c.10885T>C (p.Leu3629=) c.10846T>C (p.Leu3616=) c.10831T>C (p.Leu3611=) c.10792T>C (p.Leu3598=) c.10744T>C (p.Leu3582=) c.10513T>C (p.Leu3505=) c.6550T>C (p.Leu2184=) c.5434T>C (p.Leu1812=) c.10648T>C (p.Leu3550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.92099723T>G | CA368158429 | AKAP9,CYP51A1 | c.1352-14121A>C (n.1352-14121A>C) c.10750T>G (p.Leu3584Val) c.10822T>G (p.Leu3608Val) c.3742T>G (p.Leu1248Val) n.98T>G c.238T>G (p.Leu80Val) n.2828T>G c.5395T>G (p.Leu1799Val) c.*1630T>G (n.*1630T>G) c.10726T>G (p.Leu3576Val) n.10948T>G c.10696T>G (p.Leu3566Val) c.10492T>G (p.Leu3498Val) n.12420T>G c.10573T>G (p.Leu3525Val) c.10657T>G (p.Leu3553Val) c.4389T>G (n.4389T>G) c.10609T>G (p.Leu3537Val) c.10789T>G (p.Leu3597Val) c.4510T>G (n.4510T>G) c.10759T>G (p.Leu3587Val) c.4288T>G (p.Leu1430Val) n.2500T>G n.550T>G c.10897T>G (p.Leu3633Val) c.10921T>G (p.Leu3641Val) c.10861T>G (p.Leu3621Val) c.10858T>G (p.Leu3620Val) c.10843T>G (p.Leu3615Val) c.10882T>G (p.Leu3628Val) c.10801T>G (p.Leu3601Val) c.10756T>G (p.Leu3586Val) c.10786T>G (p.Leu3596Val) c.10762T>G (p.Leu3588Val) c.5410T>G (p.Leu1804Val) c.5371T>G (p.Leu1791Val) c.10885T>G (p.Leu3629Val) c.10846T>G (p.Leu3616Val) c.10831T>G (p.Leu3611Val) c.10792T>G (p.Leu3598Val) c.10744T>G (p.Leu3582Val) c.10513T>G (p.Leu3505Val) c.6550T>G (p.Leu2184Val) c.5434T>G (p.Leu1812Val) c.10648T>G (p.Leu3550Val) | |
| 7 | g.92099723T= | CA1725766255 | AKAP9,CYP51A1 | c.1352-14121A= (n.1352-14121A=) c.10750T= (p.Leu3584=) c.10822T= (p.Leu3608=) c.3742T= (p.Leu1248=) n.98T= c.238T= (p.Leu80=) n.2828T= c.5395T= (p.Leu1799=) c.*1630T= (n.*1630T=) c.10726T= (p.Leu3576=) n.10948T= c.10696T= (p.Leu3566=) c.10492T= (p.Leu3498=) n.12420T= c.10573T= (p.Leu3525=) c.10657T= (p.Leu3553=) c.4389T= (n.4389T=) c.10609T= (p.Leu3537=) c.10789T= (p.Leu3597=) c.4510T= (n.4510T=) c.10759T= (p.Leu3587=) c.4288T= (p.Leu1430=) n.2500T= n.550T= c.10897T= (p.Leu3633=) c.10921T= (p.Leu3641=) c.10861T= (p.Leu3621=) c.10858T= (p.Leu3620=) c.10843T= (p.Leu3615=) c.10882T= (p.Leu3628=) c.10801T= (p.Leu3601=) c.10756T= (p.Leu3586=) c.10786T= (p.Leu3596=) c.10762T= (p.Leu3588=) c.5410T= (p.Leu1804=) c.5371T= (p.Leu1791=) c.10885T= (p.Leu3629=) c.10846T= (p.Leu3616=) c.10831T= (p.Leu3611=) c.10792T= (p.Leu3598=) c.10744T= (p.Leu3582=) c.10513T= (p.Leu3505=) c.6550T= (p.Leu2184=) c.5434T= (p.Leu1812=) c.10648T= (p.Leu3550=) | |
| 7 | g.92099724T>A | CA368158431 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099724T>C | CA368158432 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099724T>G | CA368158435 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099725G>A | CA456454121 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099725G>C | CA368158440 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099725G= | CA1725766261 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099725G>T | CA368158442 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099726A>C | CA368158444 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099726A>G | CA368158451 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099726A>T | CA368158454 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099727C>A | CA368158456 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099727C>G | CA368158464 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099727C>T | CA368158459 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099728T>A | CA456454126 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099728T>C | CA456454125 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099728T>G | CA456454124 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099728T= | CA1725766268 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099729G>A | CA368158467 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099729G>C | CA368158472 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099729G>T | CA368158470 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099730A>C | CA368158476 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099730A>G | CA368158478 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099730A>T | CA368158479 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099731A>C | CA368158482 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099731A>G | CA456454130 | AKAP9,CYP51A1 | c.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=) | |
| 7 | g.92099731A>T | CA368158483 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099732A>C | CA456454131 | AKAP9,CYP51A1 | c.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 |
| 7 | g.92099732A>G | CA368158486 | AKAP9,CYP51A1 | c.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) | |
| 7 | g.92099732A>T | CA368158488 | AKAP9,CYP51A1 | c.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) |