Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12790445A>C | CA414983608 | USP9Y | c.3600A>C (p.Gln1200His) n.3612A>C c.3366A>C (p.Gln1122His) c.3615A>C (p.Gln1205His) | |
Y | g.12790445A>G | CA519859574 | USP9Y | c.3600A>G (p.Gln1200=) n.3612A>G c.3366A>G (p.Gln1122=) c.3615A>G (p.Gln1205=) | |
Y | g.12790445A>T | CA414983610 | USP9Y | c.3600A>T (p.Gln1200His) n.3612A>T c.3366A>T (p.Gln1122His) c.3615A>T (p.Gln1205His) | |
Y | g.12790446A>C | CA414983612 | USP9Y | c.3601A>C (p.Ser1201Arg) n.3613A>C c.3367A>C (p.Ser1123Arg) c.3616A>C (p.Ser1206Arg) | |
Y | g.12790446A>G | CA414983614 | USP9Y | c.3601A>G (p.Ser1201Gly) n.3613A>G c.3367A>G (p.Ser1123Gly) c.3616A>G (p.Ser1206Gly) | |
Y | g.12790446A>T | CA414983620 | USP9Y | c.3601A>T (p.Ser1201Cys) n.3613A>T c.3367A>T (p.Ser1123Cys) c.3616A>T (p.Ser1206Cys) | |
Y | g.12790447G>A | CA414983622 | USP9Y | c.3602G>A (p.Ser1201Asn) n.3614G>A c.3368G>A (p.Ser1123Asn) c.3617G>A (p.Ser1206Asn) | |
Y | g.12790447G>C | CA414983624 | USP9Y | c.3602G>C (p.Ser1201Thr) n.3614G>C c.3368G>C (p.Ser1123Thr) c.3617G>C (p.Ser1206Thr) | |
Y | g.12790447G>T | CA414983623 | USP9Y | c.3602G>T (p.Ser1201Ile) n.3614G>T c.3368G>T (p.Ser1123Ile) c.3617G>T (p.Ser1206Ile) | gnomAD v3 gnomAD v4 |
Y | g.12790448T>A | CA414983625 | USP9Y | c.3603T>A (p.Ser1201Arg) n.3615T>A c.3369T>A (p.Ser1123Arg) c.3618T>A (p.Ser1206Arg) | |
Y | g.12790448T>C | CA519859618 | USP9Y | c.3603T>C (p.Ser1201=) n.3615T>C c.3369T>C (p.Ser1123=) c.3618T>C (p.Ser1206=) | |
Y | g.12790448T>G | CA414983626 | USP9Y | c.3603T>G (p.Ser1201Arg) n.3615T>G c.3369T>G (p.Ser1123Arg) c.3618T>G (p.Ser1206Arg) | |
Y | g.12790449G>A | CA414983628 | USP9Y | c.3604G>A (p.Ala1202Thr) n.3616G>A c.3370G>A (p.Ala1124Thr) c.3619G>A (p.Ala1207Thr) | |
Y | g.12790449G>C | CA414983632 | USP9Y | c.3604G>C (p.Ala1202Pro) n.3616G>C c.3370G>C (p.Ala1124Pro) c.3619G>C (p.Ala1207Pro) | |
Y | g.12790449G>T | CA414983637 | USP9Y | c.3604G>T (p.Ala1202Ser) n.3616G>T c.3370G>T (p.Ala1124Ser) c.3619G>T (p.Ala1207Ser) | |
Y | g.12790450C>A | CA414983638 | USP9Y | c.3605C>A (p.Ala1202Asp) n.3617C>A c.3371C>A (p.Ala1124Asp) c.3620C>A (p.Ala1207Asp) | |
Y | g.12790450C>G | CA414983641 | USP9Y | c.3605C>G (p.Ala1202Gly) n.3617C>G c.3371C>G (p.Ala1124Gly) c.3620C>G (p.Ala1207Gly) | |
Y | g.12790450C>T | CA414983651 | USP9Y | c.3605C>T (p.Ala1202Val) n.3617C>T c.3371C>T (p.Ala1124Val) c.3620C>T (p.Ala1207Val) | |
Y | g.12790451C>A | CA519859631 | USP9Y | c.3606C>A (p.Ala1202=) n.3618C>A c.3372C>A (p.Ala1124=) c.3621C>A (p.Ala1207=) | |
Y | g.12790451C>G | CA519859635 | USP9Y | c.3606C>G (p.Ala1202=) n.3618C>G c.3372C>G (p.Ala1124=) c.3621C>G (p.Ala1207=) | |
Y | g.12790451C>T | CA519859639 | USP9Y | c.3606C>T (p.Ala1202=) n.3618C>T c.3372C>T (p.Ala1124=) c.3621C>T (p.Ala1207=) | |
Y | g.12790452C>A | CA414983672 | USP9Y | c.3607C>A (p.Leu1203Ile) n.3619C>A c.3373C>A (p.Leu1125Ile) c.3622C>A (p.Leu1208Ile) | |
Y | g.12790452C>G | CA414983689 | USP9Y | c.3607C>G (p.Leu1203Val) n.3619C>G c.3373C>G (p.Leu1125Val) c.3622C>G (p.Leu1208Val) | |
Y | g.12790452C>T | CA414983668 | USP9Y | c.3607C>T (p.Leu1203Phe) n.3619C>T c.3373C>T (p.Leu1125Phe) c.3622C>T (p.Leu1208Phe) | |
Y | g.12790453T>A | CA414983692 | USP9Y | c.3608T>A (p.Leu1203His) n.3620T>A c.3374T>A (p.Leu1125His) c.3623T>A (p.Leu1208His) | |
Y | g.12790453T>C | CA414983696 | USP9Y | c.3608T>C (p.Leu1203Pro) n.3620T>C c.3374T>C (p.Leu1125Pro) c.3623T>C (p.Leu1208Pro) | |
Y | g.12790453T>G | CA414983697 | USP9Y | c.3608T>G (p.Leu1203Arg) n.3620T>G c.3374T>G (p.Leu1125Arg) c.3623T>G (p.Leu1208Arg) | |
Y | g.12790454T>A | CA519859692 | USP9Y | c.3609T>A (p.Leu1203=) n.3621T>A c.3375T>A (p.Leu1125=) c.3624T>A (p.Leu1208=) | |
Y | g.12790454T>C | CA519859695 | USP9Y | c.3609T>C (p.Leu1203=) n.3621T>C c.3375T>C (p.Leu1125=) c.3624T>C (p.Leu1208=) | |
Y | g.12790454T>G | CA519859700 | USP9Y | c.3609T>G (p.Leu1203=) n.3621T>G c.3375T>G (p.Leu1125=) c.3624T>G (p.Leu1208=) | |
Y | g.12790455C>A | CA414983700 | USP9Y | c.3610C>A (p.Gln1204Lys) n.3622C>A c.3376C>A (p.Gln1126Lys) c.3625C>A (p.Gln1209Lys) | |
Y | g.12790455C>G | CA414983702 | USP9Y | c.3610C>G (p.Gln1204Glu) n.3622C>G c.3376C>G (p.Gln1126Glu) c.3625C>G (p.Gln1209Glu) | |
Y | g.12790455C>T | CA414983703 | USP9Y | c.3610C>T (p.Gln1204Ter) n.3622C>T c.3376C>T (p.Gln1126Ter) c.3625C>T (p.Gln1209Ter) | |
Y | g.12790456A>C | CA414983705 | USP9Y | c.3611A>C (p.Gln1204Pro) n.3623A>C c.3377A>C (p.Gln1126Pro) c.3626A>C (p.Gln1209Pro) | |
Y | g.12790456A>G | CA414983707 | USP9Y | c.3611A>G (p.Gln1204Arg) n.3623A>G c.3377A>G (p.Gln1126Arg) c.3626A>G (p.Gln1209Arg) | |
Y | g.12790456A>T | CA414983711 | USP9Y | c.3611A>T (p.Gln1204Leu) n.3623A>T c.3377A>T (p.Gln1126Leu) c.3626A>T (p.Gln1209Leu) | |
Y | g.12790457G>A | CA519859716 | USP9Y | c.3612G>A (p.Gln1204=) n.3624G>A c.3378G>A (p.Gln1126=) c.3627G>A (p.Gln1209=) | |
Y | g.12790457G>C | CA414983713 | USP9Y | c.3612G>C (p.Gln1204His) n.3624G>C c.3378G>C (p.Gln1126His) c.3627G>C (p.Gln1209His) | |
Y | g.12790457G>T | CA414983715 | USP9Y | c.3612G>T (p.Gln1204His) n.3624G>T c.3378G>T (p.Gln1126His) c.3627G>T (p.Gln1209His) | |
Y | g.12790458A>C | CA414983720 | USP9Y | c.3613A>C (p.Ser1205Arg) n.3625A>C c.3379A>C (p.Ser1127Arg) c.3628A>C (p.Ser1210Arg) | |
Y | g.12790458A>G | CA414983718 | USP9Y | c.3613A>G (p.Ser1205Gly) n.3625A>G c.3379A>G (p.Ser1127Gly) c.3628A>G (p.Ser1210Gly) | |
Y | g.12790458A>T | CA414983717 | USP9Y | c.3613A>T (p.Ser1205Cys) n.3625A>T c.3379A>T (p.Ser1127Cys) c.3628A>T (p.Ser1210Cys) | |
Y | g.12790459G>A | CA414983722 | USP9Y | c.3614G>A (p.Ser1205Asn) n.3626G>A c.3380G>A (p.Ser1127Asn) c.3629G>A (p.Ser1210Asn) | |
Y | g.12790459G>C | CA414983725 | USP9Y | c.3614G>C (p.Ser1205Thr) n.3626G>C c.3380G>C (p.Ser1127Thr) c.3629G>C (p.Ser1210Thr) | |
Y | g.12790459G>T | CA414983727 | USP9Y | c.3614G>T (p.Ser1205Ile) n.3626G>T c.3380G>T (p.Ser1127Ile) c.3629G>T (p.Ser1210Ile) | |
Y | g.12790460C>A | CA414983730 | USP9Y | c.3615C>A (p.Ser1205Arg) n.3627C>A c.3381C>A (p.Ser1127Arg) c.3630C>A (p.Ser1210Arg) | |
Y | g.12790460C>G | CA414983732 | USP9Y | c.3615C>G (p.Ser1205Arg) n.3627C>G c.3381C>G (p.Ser1127Arg) c.3630C>G (p.Ser1210Arg) | |
Y | g.12790460C>T | CA519859748 | USP9Y | c.3615C>T (p.Ser1205=) n.3627C>T c.3381C>T (p.Ser1127=) c.3630C>T (p.Ser1210=) | |
Y | g.12790461A>C | CA414983734 | USP9Y | c.3616A>C (p.Ile1206Leu) n.3628A>C c.3382A>C (p.Ile1128Leu) c.3631A>C (p.Ile1211Leu) | |
Y | g.12790461A>G | CA414983735 | USP9Y | c.3616A>G (p.Ile1206Val) n.3628A>G c.3382A>G (p.Ile1128Val) c.3631A>G (p.Ile1211Val) | |
Y | g.12790461A>T | CA414983736 | USP9Y | c.3616A>T (p.Ile1206Phe) n.3628A>T c.3382A>T (p.Ile1128Phe) c.3631A>T (p.Ile1211Phe) | |
Y | g.12790462T>A | CA414983737 | USP9Y | c.3617T>A (p.Ile1206Asn) n.3629T>A c.3383T>A (p.Ile1128Asn) c.3632T>A (p.Ile1211Asn) | |
Y | g.12790462T>C | CA414983738 | USP9Y | c.3617T>C (p.Ile1206Thr) n.3629T>C c.3383T>C (p.Ile1128Thr) c.3632T>C (p.Ile1211Thr) | |
Y | g.12790462T>G | CA414983739 | USP9Y | c.3617T>G (p.Ile1206Ser) n.3629T>G c.3383T>G (p.Ile1128Ser) c.3632T>G (p.Ile1211Ser) | |
Y | g.12790463T>A | CA519859783 | USP9Y | c.3618T>A (p.Ile1206=) n.3630T>A c.3384T>A (p.Ile1128=) c.3633T>A (p.Ile1211=) | |
Y | g.12790463T>C | CA519859784 | USP9Y | c.3618T>C (p.Ile1206=) n.3630T>C c.3384T>C (p.Ile1128=) c.3633T>C (p.Ile1211=) | |
Y | g.12790463T>G | CA414983741 | USP9Y | c.3618T>G (p.Ile1206Met) n.3630T>G c.3384T>G (p.Ile1128Met) c.3633T>G (p.Ile1211Met) | |
Y | g.12790464C>A | CA414983748 | USP9Y | c.3619C>A (p.Pro1207Thr) n.3631C>A c.3385C>A (p.Pro1129Thr) c.3634C>A (p.Pro1212Thr) | |
Y | g.12790464C>G | CA414983745 | USP9Y | c.3619C>G (p.Pro1207Ala) n.3631C>G c.3385C>G (p.Pro1129Ala) c.3634C>G (p.Pro1212Ala) | |
Y | g.12790464C>T | CA414983743 | USP9Y | c.3619C>T (p.Pro1207Ser) n.3631C>T c.3385C>T (p.Pro1129Ser) c.3634C>T (p.Pro1212Ser) | |
Y | g.12790465C>A | CA414983752 | USP9Y | c.3620C>A (p.Pro1207His) n.3632C>A c.3386C>A (p.Pro1129His) c.3635C>A (p.Pro1212His) | |
Y | g.12790465C>G | CA414983757 | USP9Y | c.3620C>G (p.Pro1207Arg) n.3632C>G c.3386C>G (p.Pro1129Arg) c.3635C>G (p.Pro1212Arg) | |
Y | g.12790465C>T | CA414983754 | USP9Y | c.3620C>T (p.Pro1207Leu) n.3632C>T c.3386C>T (p.Pro1129Leu) c.3635C>T (p.Pro1212Leu) | |
Y | g.12790466T>A | CA519859796 | USP9Y | c.3621T>A (p.Pro1207=) n.3633T>A c.3387T>A (p.Pro1129=) c.3636T>A (p.Pro1212=) | |
Y | g.12790466T>C | CA519859798 | USP9Y | c.3621T>C (p.Pro1207=) n.3633T>C c.3387T>C (p.Pro1129=) c.3636T>C (p.Pro1212=) | |
Y | g.12790466T>G | CA519859802 | USP9Y | c.3621T>G (p.Pro1207=) n.3633T>G c.3387T>G (p.Pro1129=) c.3636T>G (p.Pro1212=) | |
Y | g.12790467A>C | CA414983760 | USP9Y | c.3622A>C (p.Asn1208His) n.3634A>C c.3388A>C (p.Asn1130His) c.3637A>C (p.Asn1213His) | |
Y | g.12790467A>G | CA414983763 | USP9Y | c.3622A>G (p.Asn1208Asp) n.3634A>G c.3388A>G (p.Asn1130Asp) c.3637A>G (p.Asn1213Asp) | |
Y | g.12790467A>T | CA414983764 | USP9Y | c.3622A>T (p.Asn1208Tyr) n.3634A>T c.3388A>T (p.Asn1130Tyr) c.3637A>T (p.Asn1213Tyr) | |
Y | g.12790468A>C | CA414983767 | USP9Y | c.3623A>C (p.Asn1208Thr) n.3635A>C c.3389A>C (p.Asn1130Thr) c.3638A>C (p.Asn1213Thr) | |
Y | g.12790468A>G | CA414983770 | USP9Y | c.3623A>G (p.Asn1208Ser) n.3635A>G c.3389A>G (p.Asn1130Ser) c.3638A>G (p.Asn1213Ser) | |
Y | g.12790468A>T | CA414983773 | USP9Y | c.3623A>T (p.Asn1208Ile) n.3635A>T c.3389A>T (p.Asn1130Ile) c.3638A>T (p.Asn1213Ile) | |
Y | g.12790469T>A | CA414983775 | USP9Y | c.3624T>A (p.Asn1208Lys) n.3636T>A c.3390T>A (p.Asn1130Lys) c.3639T>A (p.Asn1213Lys) | |
Y | g.12790469T>C | CA519859825 | USP9Y | c.3624T>C (p.Asn1208=) n.3636T>C c.3390T>C (p.Asn1130=) c.3639T>C (p.Asn1213=) | |
Y | g.12790469T>G | CA414983778 | USP9Y | c.3624T>G (p.Asn1208Lys) n.3636T>G c.3390T>G (p.Asn1130Lys) c.3639T>G (p.Asn1213Lys) | |
Y | g.12790470C>A | CA414983782 | USP9Y | c.3625C>A (p.Pro1209Thr) n.3637C>A c.3391C>A (p.Pro1131Thr) c.3640C>A (p.Pro1214Thr) | |
Y | g.12790470C= | CA2470558125 | USP9Y | c.3625C= (p.Pro1209=) n.3637C= c.3391C= (p.Pro1131=) c.3640C= (p.Pro1214=) | |
Y | g.12790470C>G | CA10573263 | USP9Y | c.3625C>G (p.Pro1209Ala) n.3637C>G c.3391C>G (p.Pro1131Ala) c.3640C>G (p.Pro1214Ala) | dbSNP ExAC |
Y | g.12790470C>T | CA414983787 | USP9Y | c.3625C>T (p.Pro1209Ser) n.3637C>T c.3391C>T (p.Pro1131Ser) c.3640C>T (p.Pro1214Ser) | COSMIC |
Y | g.12790471C>A | CA414983794 | USP9Y | c.3626C>A (p.Pro1209His) n.3638C>A c.3392C>A (p.Pro1131His) c.3641C>A (p.Pro1214His) | |
Y | g.12790471C>G | CA414983793 | USP9Y | c.3626C>G (p.Pro1209Arg) n.3638C>G c.3392C>G (p.Pro1131Arg) c.3641C>G (p.Pro1214Arg) | |
Y | g.12790471C>T | CA414983790 | USP9Y | c.3626C>T (p.Pro1209Leu) n.3638C>T c.3392C>T (p.Pro1131Leu) c.3641C>T (p.Pro1214Leu) | COSMIC |
Y | g.12790472C>A | CA519859854 | USP9Y | c.3627C>A (p.Pro1209=) n.3639C>A c.3393C>A (p.Pro1131=) c.3642C>A (p.Pro1214=) | |
Y | g.12790472C>G | CA519859857 | USP9Y | c.3627C>G (p.Pro1209=) n.3639C>G c.3393C>G (p.Pro1131=) c.3642C>G (p.Pro1214=) | |
Y | g.12790472C>T | CA519859862 | USP9Y | c.3627C>T (p.Pro1209=) n.3639C>T c.3393C>T (p.Pro1131=) c.3642C>T (p.Pro1214=) | |
Y | g.12790473T>A | CA414983798 | USP9Y | c.3628T>A (p.Ser1210Thr) n.3640T>A c.3394T>A (p.Ser1132Thr) c.3643T>A (p.Ser1215Thr) | |
Y | g.12790473T>C | CA414983801 | USP9Y | c.3628T>C (p.Ser1210Pro) n.3640T>C c.3394T>C (p.Ser1132Pro) c.3643T>C (p.Ser1215Pro) | |
Y | g.12790473T>G | CA414983803 | USP9Y | c.3628T>G (p.Ser1210Ala) n.3640T>G c.3394T>G (p.Ser1132Ala) c.3643T>G (p.Ser1215Ala) | |
Y | g.12790474C>A | CA414983806 | USP9Y | c.3629C>A (p.Ser1210Ter) n.3641C>A c.3395C>A (p.Ser1132Ter) c.3644C>A (p.Ser1215Ter) | |
Y | g.12790474C>G | CA414983808 | USP9Y | c.3629C>G (p.Ser1210Ter) n.3641C>G c.3395C>G (p.Ser1132Ter) c.3644C>G (p.Ser1215Ter) | |
Y | g.12790474C>T | CA414983811 | USP9Y | c.3629C>T (p.Ser1210Leu) n.3641C>T c.3395C>T (p.Ser1132Leu) c.3644C>T (p.Ser1215Leu) | |
Y | g.12790475A>C | CA519859894 | USP9Y | c.3630A>C (p.Ser1210=) n.3642A>C c.3396A>C (p.Ser1132=) c.3645A>C (p.Ser1215=) | |
Y | g.12790475A>G | CA519859890 | USP9Y | c.3630A>G (p.Ser1210=) n.3642A>G c.3396A>G (p.Ser1132=) c.3645A>G (p.Ser1215=) | |
Y | g.12790475A>T | CA519859876 | USP9Y | c.3630A>T (p.Ser1210=) n.3642A>T c.3396A>T (p.Ser1132=) c.3645A>T (p.Ser1215=) | gnomAD v3 gnomAD v4 |
Y | g.12790476T>A | CA414983817 | USP9Y | c.3631T>A (p.Ser1211Thr) n.3643T>A c.3397T>A (p.Ser1133Thr) c.3646T>A (p.Ser1216Thr) | |
Y | g.12790476T>C | CA414983819 | USP9Y | c.3631T>C (p.Ser1211Pro) n.3643T>C c.3397T>C (p.Ser1133Pro) c.3646T>C (p.Ser1216Pro) | |
Y | g.12790476T>G | CA414983822 | USP9Y | c.3631T>G (p.Ser1211Ala) n.3643T>G c.3397T>G (p.Ser1133Ala) c.3646T>G (p.Ser1216Ala) | |
Y | g.12790477C>A | CA414983826 | USP9Y | c.3632C>A (p.Ser1211Tyr) n.3644C>A c.3398C>A (p.Ser1133Tyr) c.3647C>A (p.Ser1216Tyr) | |
Y | g.12790477C>G | CA414983829 | USP9Y | c.3632C>G (p.Ser1211Cys) n.3644C>G c.3398C>G (p.Ser1133Cys) c.3647C>G (p.Ser1216Cys) | |
Y | g.12790477C>T | CA414983832 | USP9Y | c.3632C>T (p.Ser1211Phe) n.3644C>T c.3398C>T (p.Ser1133Phe) c.3647C>T (p.Ser1216Phe) | |
Y | g.12790478C>A | CA519859903 | USP9Y | c.3633C>A (p.Ser1211=) n.3645C>A c.3399C>A (p.Ser1133=) c.3648C>A (p.Ser1216=) | |
Y | g.12790478C= | CA2470558126 | USP9Y | c.3633C= (p.Ser1211=) n.3645C= c.3399C= (p.Ser1133=) c.3648C= (p.Ser1216=) | |
Y | g.12790478C>G | CA519859909 | USP9Y | c.3633C>G (p.Ser1211=) n.3645C>G c.3399C>G (p.Ser1133=) c.3648C>G (p.Ser1216=) | |
Y | g.12790478C>T | CA10573264 | USP9Y | c.3633C>T (p.Ser1211=) n.3645C>T c.3399C>T (p.Ser1133=) c.3648C>T (p.Ser1216=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
Y | g.12790479G>A | CA337720146 | USP9Y | c.3634G>A (p.Glu1212Lys) n.3646G>A c.3400G>A (p.Glu1134Lys) c.3649G>A (p.Glu1217Lys) | dbSNP |
Y | g.12790479G>C | CA414983839 | USP9Y | c.3634G>C (p.Glu1212Gln) n.3646G>C c.3400G>C (p.Glu1134Gln) c.3649G>C (p.Glu1217Gln) | |
Y | g.12790479G= | CA2470558127 | USP9Y | c.3634G= (p.Glu1212=) n.3646G= c.3400G= (p.Glu1134=) c.3649G= (p.Glu1217=) | |
Y | g.12790479G>T | CA414983846 | USP9Y | c.3634G>T (p.Glu1212Ter) n.3646G>T c.3400G>T (p.Glu1134Ter) c.3649G>T (p.Glu1217Ter) | |
Y | g.12790480A>C | CA414983849 | USP9Y | c.3635A>C (p.Glu1212Ala) n.3647A>C c.3401A>C (p.Glu1134Ala) c.3650A>C (p.Glu1217Ala) | |
Y | g.12790480A>G | CA414983854 | USP9Y | c.3635A>G (p.Glu1212Gly) n.3647A>G c.3401A>G (p.Glu1134Gly) c.3650A>G (p.Glu1217Gly) | |
Y | g.12790480A>T | CA414983860 | USP9Y | c.3635A>T (p.Glu1212Val) n.3647A>T c.3401A>T (p.Glu1134Val) c.3650A>T (p.Glu1217Val) | |
Y | g.12790481G>A | CA10573265 | USP9Y | c.3636G>A (p.Glu1212=) n.3648G>A c.3402G>A (p.Glu1134=) c.3651G>A (p.Glu1217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790481G>C | CA414983865 | USP9Y | c.3636G>C (p.Glu1212Asp) n.3648G>C c.3402G>C (p.Glu1134Asp) c.3651G>C (p.Glu1217Asp) | |
Y | g.12790481G= | CA2470558128 | USP9Y | c.3636G= (p.Glu1212=) n.3648G= c.3402G= (p.Glu1134=) c.3651G= (p.Glu1217=) | |
Y | g.12790481G>T | CA414983868 | USP9Y | c.3636G>T (p.Glu1212Asp) n.3648G>T c.3402G>T (p.Glu1134Asp) c.3651G>T (p.Glu1217Asp) | |
Y | g.12790482T>A | CA414983872 | USP9Y | c.3637T>A (p.Cys1213Ser) n.3649T>A c.3403T>A (p.Cys1135Ser) c.3652T>A (p.Cys1218Ser) | |
Y | g.12790482T>C | CA414983874 | USP9Y | c.3637T>C (p.Cys1213Arg) n.3649T>C c.3403T>C (p.Cys1135Arg) c.3652T>C (p.Cys1218Arg) | |
Y | g.12790482T>G | CA414983876 | USP9Y | c.3637T>G (p.Cys1213Gly) n.3649T>G c.3403T>G (p.Cys1135Gly) c.3652T>G (p.Cys1218Gly) | |
Y | g.12790483G>A | CA414983887 | USP9Y | c.3638G>A (p.Cys1213Tyr) n.3650G>A c.3404G>A (p.Cys1135Tyr) c.3653G>A (p.Cys1218Tyr) | |
Y | g.12790483G>C | CA414983883 | USP9Y | c.3638G>C (p.Cys1213Ser) n.3650G>C c.3404G>C (p.Cys1135Ser) c.3653G>C (p.Cys1218Ser) | |
Y | g.12790483G>T | CA414983881 | USP9Y | c.3638G>T (p.Cys1213Phe) n.3650G>T c.3404G>T (p.Cys1135Phe) c.3653G>T (p.Cys1218Phe) | |
Y | g.12790484C>A | CA414983891 | USP9Y | c.3639C>A (p.Cys1213Ter) n.3651C>A c.3405C>A (p.Cys1135Ter) c.3654C>A (p.Cys1218Ter) | |
Y | g.12790484C= | CA2470558129 | USP9Y | c.3639C= (p.Cys1213=) n.3651C= c.3405C= (p.Cys1135=) c.3654C= (p.Cys1218=) | |
Y | g.12790484C>G | CA414983898 | USP9Y | c.3639C>G (p.Cys1213Trp) n.3651C>G c.3405C>G (p.Cys1135Trp) c.3654C>G (p.Cys1218Trp) | |
Y | g.12790484C>T | CA10573266 | USP9Y | c.3639C>T (p.Cys1213=) n.3651C>T c.3405C>T (p.Cys1135=) c.3654C>T (p.Cys1218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790485G>A | CA10573267 | USP9Y | c.3640G>A (p.Val1214Ile) n.3652G>A c.3406G>A (p.Val1136Ile) c.3655G>A (p.Val1219Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790485G>C | CA414983905 | USP9Y | c.3640G>C (p.Val1214Leu) n.3652G>C c.3406G>C (p.Val1136Leu) c.3655G>C (p.Val1219Leu) | |
Y | g.12790485G= | CA2470558130 | USP9Y | c.3640G= (p.Val1214=) n.3652G= c.3406G= (p.Val1136=) c.3655G= (p.Val1219=) | |
Y | g.12790485G>T | CA414983908 | USP9Y | c.3640G>T (p.Val1214Leu) n.3652G>T c.3406G>T (p.Val1136Leu) c.3655G>T (p.Val1219Leu) | |
Y | g.12790486T>A | CA414983910 | USP9Y | c.3641T>A (p.Val1214Glu) n.3653T>A c.3407T>A (p.Val1136Glu) c.3656T>A (p.Val1219Glu) | |
Y | g.12790486T>C | CA414983913 | USP9Y | c.3641T>C (p.Val1214Ala) n.3653T>C c.3407T>C (p.Val1136Ala) c.3656T>C (p.Val1219Ala) | |
Y | g.12790486T>G | CA414983916 | USP9Y | c.3641T>G (p.Val1214Gly) n.3653T>G c.3407T>G (p.Val1136Gly) c.3656T>G (p.Val1219Gly) | |
Y | g.12790487A>C | CA519859986 | USP9Y | c.3642A>C (p.Val1214=) n.3654A>C c.3408A>C (p.Val1136=) c.3657A>C (p.Val1219=) | |
Y | g.12790487A>G | CA519859990 | USP9Y | c.3642A>G (p.Val1214=) n.3654A>G c.3408A>G (p.Val1136=) c.3657A>G (p.Val1219=) | |
Y | g.12790487A>T | CA519860005 | USP9Y | c.3642A>T (p.Val1214=) n.3654A>T c.3408A>T (p.Val1136=) c.3657A>T (p.Val1219=) | |
Y | g.12790488C>A | CA414983918 | USP9Y | c.3643C>A (p.Leu1215Ile) n.3655C>A c.3409C>A (p.Leu1137Ile) c.3658C>A (p.Leu1220Ile) | |
Y | g.12790488C>G | CA414983921 | USP9Y | c.3643C>G (p.Leu1215Val) n.3655C>G c.3409C>G (p.Leu1137Val) c.3658C>G (p.Leu1220Val) | |
Y | g.12790488C>T | CA414983924 | USP9Y | c.3643C>T (p.Leu1215Phe) n.3655C>T c.3409C>T (p.Leu1137Phe) c.3658C>T (p.Leu1220Phe) | |
Y | g.12790489T>A | CA414983931 | USP9Y | c.3644T>A (p.Leu1215His) n.3656T>A c.3410T>A (p.Leu1137His) c.3659T>A (p.Leu1220His) | |
Y | g.12790489T>C | CA414983935 | USP9Y | c.3644T>C (p.Leu1215Pro) n.3656T>C c.3410T>C (p.Leu1137Pro) c.3659T>C (p.Leu1220Pro) | |
Y | g.12790489T>G | CA414983932 | USP9Y | c.3644T>G (p.Leu1215Arg) n.3656T>G c.3410T>G (p.Leu1137Arg) c.3659T>G (p.Leu1220Arg) | |
Y | g.12790490T>A | CA519860050 | USP9Y | c.3645T>A (p.Leu1215=) n.3657T>A c.3411T>A (p.Leu1137=) c.3660T>A (p.Leu1220=) | |
Y | g.12790490T>C | CA519860045 | USP9Y | c.3645T>C (p.Leu1215=) n.3657T>C c.3411T>C (p.Leu1137=) c.3660T>C (p.Leu1220=) | |
Y | g.12790490T>G | CA519860041 | USP9Y | c.3645T>G (p.Leu1215=) n.3657T>G c.3411T>G (p.Leu1137=) c.3660T>G (p.Leu1220=) | |
Y | g.12790491A>C | CA519860052 | USP9Y | c.3646A>C (p.Arg1216=) n.3658A>C c.3412A>C (p.Arg1138=) c.3661A>C (p.Arg1221=) | |
Y | g.12790491A>G | CA414983949 | USP9Y | c.3646A>G (p.Arg1216Gly) n.3658A>G c.3412A>G (p.Arg1138Gly) c.3661A>G (p.Arg1221Gly) | |
Y | g.12790491A>T | CA414983951 | USP9Y | c.3646A>T (p.Arg1216Ter) n.3658A>T c.3412A>T (p.Arg1138Ter) c.3661A>T (p.Arg1221Ter) | |
Y | g.12790492_12790493del | CA2579747870 | USP9Y | c.3647_3648del (p.Arg1216LysfsTer2) n.3659_3660del c.3413_3414del (p.Arg1138LysfsTer2) c.3662_3663del (p.Arg1221LysfsTer2) | |
Y | g.12790492G>A | CA414983954 | USP9Y | c.3647G>A (p.Arg1216Lys) n.3659G>A c.3413G>A (p.Arg1138Lys) c.3662G>A (p.Arg1221Lys) | |
Y | g.12790492G>C | CA414983958 | USP9Y | c.3647G>C (p.Arg1216Thr) n.3659G>C c.3413G>C (p.Arg1138Thr) c.3662G>C (p.Arg1221Thr) | |
Y | g.12790492G>T | CA414983963 | USP9Y | c.3647G>T (p.Arg1216Ile) n.3659G>T c.3413G>T (p.Arg1138Ile) c.3662G>T (p.Arg1221Ile) | |
Y | g.12790493A>C | CA414983967 | USP9Y | c.3648A>C (p.Arg1216Ser) n.3660A>C c.3414A>C (p.Arg1138Ser) c.3663A>C (p.Arg1221Ser) | |
Y | g.12790493A>G | CA519860080 | USP9Y | c.3648A>G (p.Arg1216=) n.3660A>G c.3414A>G (p.Arg1138=) c.3663A>G (p.Arg1221=) | |
Y | g.12790493A>T | CA414983969 | USP9Y | c.3648A>T (p.Arg1216Ser) n.3660A>T c.3414A>T (p.Arg1138Ser) c.3663A>T (p.Arg1221Ser) | |
Y | g.12790494A>C | CA414983973 | USP9Y | c.3649A>C (p.Asn1217His) n.3661A>C c.3415A>C (p.Asn1139His) c.3664A>C (p.Asn1222His) | |
Y | g.12790494A>G | CA414983976 | USP9Y | c.3649A>G (p.Asn1217Asp) n.3661A>G c.3415A>G (p.Asn1139Asp) c.3664A>G (p.Asn1222Asp) | |
Y | g.12790494A>T | CA414983979 | USP9Y | c.3649A>T (p.Asn1217Tyr) n.3661A>T c.3415A>T (p.Asn1139Tyr) c.3664A>T (p.Asn1222Tyr) | |
Y | g.12790495A>C | CA414983983 | USP9Y | c.3650A>C (p.Asn1217Thr) n.3662A>C c.3416A>C (p.Asn1139Thr) c.3665A>C (p.Asn1222Thr) | |
Y | g.12790495A>G | CA414983986 | USP9Y | c.3650A>G (p.Asn1217Ser) n.3662A>G c.3416A>G (p.Asn1139Ser) c.3665A>G (p.Asn1222Ser) | |
Y | g.12790495A>T | CA414983989 | USP9Y | c.3650A>T (p.Asn1217Ile) n.3662A>T c.3416A>T (p.Asn1139Ile) c.3665A>T (p.Asn1222Ile) | |
Y | g.12790496T>A | CA414983995 | USP9Y | c.3651T>A (p.Asn1217Lys) n.3663T>A c.3417T>A (p.Asn1139Lys) c.3666T>A (p.Asn1222Lys) | |
Y | g.12790496T>C | CA519860147 | USP9Y | c.3651T>C (p.Asn1217=) n.3663T>C c.3417T>C (p.Asn1139=) c.3666T>C (p.Asn1222=) | |
Y | g.12790496T>G | CA414983992 | USP9Y | c.3651T>G (p.Asn1217Lys) n.3663T>G c.3417T>G (p.Asn1139Lys) c.3666T>G (p.Asn1222Lys) | |
Y | g.12790497G>A | CA414984000 | USP9Y | c.3652G>A (p.Glu1218Lys) n.3664G>A c.3418G>A (p.Glu1140Lys) c.3667G>A (p.Glu1223Lys) | |
Y | g.12790497G>C | CA414984004 | USP9Y | c.3652G>C (p.Glu1218Gln) n.3664G>C c.3418G>C (p.Glu1140Gln) c.3667G>C (p.Glu1223Gln) | |
Y | g.12790497G>T | CA414984010 | USP9Y | c.3652G>T (p.Glu1218Ter) n.3664G>T c.3418G>T (p.Glu1140Ter) c.3667G>T (p.Glu1223Ter) | |
Y | g.12790498A>C | CA414984013 | USP9Y | c.3653A>C (p.Glu1218Ala) n.3665A>C c.3419A>C (p.Glu1140Ala) c.3668A>C (p.Glu1223Ala) | |
Y | g.12790498A>G | CA414984016 | USP9Y | c.3653A>G (p.Glu1218Gly) n.3665A>G c.3419A>G (p.Glu1140Gly) c.3668A>G (p.Glu1223Gly) | |
Y | g.12790498A>T | CA414984019 | USP9Y | c.3653A>T (p.Glu1218Val) n.3665A>T c.3419A>T (p.Glu1140Val) c.3668A>T (p.Glu1223Val) | |
Y | g.12790499G>A | CA519860200 | USP9Y | c.3654G>A (p.Glu1218=) n.3666G>A c.3420G>A (p.Glu1140=) c.3669G>A (p.Glu1223=) | |
Y | g.12790499G>C | CA414984022 | USP9Y | c.3654G>C (p.Glu1218Asp) n.3666G>C c.3420G>C (p.Glu1140Asp) c.3669G>C (p.Glu1223Asp) | |
Y | g.12790499G>T | CA414984025 | USP9Y | c.3654G>T (p.Glu1218Asp) n.3666G>T c.3420G>T (p.Glu1140Asp) c.3669G>T (p.Glu1223Asp) | |
Y | g.12790500T>A | CA414984029 | USP9Y | c.3655T>A (p.Ser1219Thr) n.3667T>A c.3421T>A (p.Ser1141Thr) c.3670T>A (p.Ser1224Thr) | |
Y | g.12790500T>C | CA414984032 | USP9Y | c.3655T>C (p.Ser1219Pro) n.3667T>C c.3421T>C (p.Ser1141Pro) c.3670T>C (p.Ser1224Pro) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.12790500T>G | CA414984035 | USP9Y | c.3655T>G (p.Ser1219Ala) n.3667T>G c.3421T>G (p.Ser1141Ala) c.3670T>G (p.Ser1224Ala) | |
Y | g.12790500T= | CA2470558131 | USP9Y | c.3655T= (p.Ser1219=) n.3667T= c.3421T= (p.Ser1141=) c.3670T= (p.Ser1224=) | |
Y | g.12790501C>A | CA414984041 | USP9Y | c.3656C>A (p.Ser1219Tyr) n.3668C>A c.3422C>A (p.Ser1141Tyr) c.3671C>A (p.Ser1224Tyr) | |
Y | g.12790501C>G | CA414984040 | USP9Y | c.3656C>G (p.Ser1219Cys) n.3668C>G c.3422C>G (p.Ser1141Cys) c.3671C>G (p.Ser1224Cys) | |
Y | g.12790501C>T | CA414984039 | USP9Y | c.3656C>T (p.Ser1219Phe) n.3668C>T c.3422C>T (p.Ser1141Phe) c.3671C>T (p.Ser1224Phe) | |
Y | g.12790502C>A | CA519860235 | USP9Y | c.3657C>A (p.Ser1219=) n.3669C>A c.3423C>A (p.Ser1141=) c.3672C>A (p.Ser1224=) | |
Y | g.12790502C= | CA2470558132 | USP9Y | c.3657C= (p.Ser1219=) n.3669C= c.3423C= (p.Ser1141=) c.3672C= (p.Ser1224=) | |
Y | g.12790502C>G | CA519860236 | USP9Y | c.3657C>G (p.Ser1219=) n.3669C>G c.3423C>G (p.Ser1141=) c.3672C>G (p.Ser1224=) | |
Y | g.12790502C>T | CA519860237 | USP9Y | c.3657C>T (p.Ser1219=) n.3669C>T c.3423C>T (p.Ser1141=) c.3672C>T (p.Ser1224=) | dbSNP gnomAD v2 |
Y | g.12790503A>C | CA414984042 | USP9Y | c.3658A>C (p.Ile1220Leu) n.3670A>C c.3424A>C (p.Ile1142Leu) c.3673A>C (p.Ile1225Leu) | |
Y | g.12790503A>G | CA414984043 | USP9Y | c.3658A>G (p.Ile1220Val) n.3670A>G c.3424A>G (p.Ile1142Val) c.3673A>G (p.Ile1225Val) | |
Y | g.12790503A>T | CA414984044 | USP9Y | c.3658A>T (p.Ile1220Leu) n.3670A>T c.3424A>T (p.Ile1142Leu) c.3673A>T (p.Ile1225Leu) | |
Y | g.12790504T>A | CA414984047 | USP9Y | c.3659T>A (p.Ile1220Lys) n.3671T>A c.3425T>A (p.Ile1142Lys) c.3674T>A (p.Ile1225Lys) | |
Y | g.12790504T>C | CA414984048 | USP9Y | c.3659T>C (p.Ile1220Thr) n.3671T>C c.3425T>C (p.Ile1142Thr) c.3674T>C (p.Ile1225Thr) | |
Y | g.12790504T>G | CA414984051 | USP9Y | c.3659T>G (p.Ile1220Arg) n.3671T>G c.3425T>G (p.Ile1142Arg) c.3674T>G (p.Ile1225Arg) | |
Y | g.12790505A>C | CA519860259 | USP9Y | c.3660A>C (p.Ile1220=) n.3672A>C c.3426A>C (p.Ile1142=) c.3675A>C (p.Ile1225=) | |
Y | g.12790505A>G | CA414984053 | USP9Y | c.3660A>G (p.Ile1220Met) n.3672A>G c.3426A>G (p.Ile1142Met) c.3675A>G (p.Ile1225Met) | |
Y | g.12790505A>T | CA519860272 | USP9Y | c.3660A>T (p.Ile1220=) n.3672A>T c.3426A>T (p.Ile1142=) c.3675A>T (p.Ile1225=) | |
Y | g.12790506C>A | CA414984056 | USP9Y | c.3661C>A (p.Leu1221Ile) n.3673C>A c.3427C>A (p.Leu1143Ile) c.3676C>A (p.Leu1226Ile) | |
Y | g.12790506C>G | CA414984058 | USP9Y | c.3661C>G (p.Leu1221Val) n.3673C>G c.3427C>G (p.Leu1143Val) c.3676C>G (p.Leu1226Val) | |
Y | g.12790506C>T | CA414984064 | USP9Y | c.3661C>T (p.Leu1221Phe) n.3673C>T c.3427C>T (p.Leu1143Phe) c.3676C>T (p.Leu1226Phe) | |
Y | g.12790507T>A | CA414984072 | USP9Y | c.3662T>A (p.Leu1221His) n.3674T>A c.3428T>A (p.Leu1143His) c.3677T>A (p.Leu1226His) | |
Y | g.12790507T>C | CA414984068 | USP9Y | c.3662T>C (p.Leu1221Pro) n.3674T>C c.3428T>C (p.Leu1143Pro) c.3677T>C (p.Leu1226Pro) | |
Y | g.12790507T>G | CA414984065 | USP9Y | c.3662T>G (p.Leu1221Arg) n.3674T>G c.3428T>G (p.Leu1143Arg) c.3677T>G (p.Leu1226Arg) | COSMIC |
Y | g.12790508T>A | CA519860303 | USP9Y | c.3663T>A (p.Leu1221=) n.3675T>A c.3429T>A (p.Leu1143=) c.3678T>A (p.Leu1226=) | |
Y | g.12790508T>C | CA519860313 | USP9Y | c.3663T>C (p.Leu1221=) n.3675T>C c.3429T>C (p.Leu1143=) c.3678T>C (p.Leu1226=) | |
Y | g.12790508T>G | CA519860317 | USP9Y | c.3663T>G (p.Leu1221=) n.3675T>G c.3429T>G (p.Leu1143=) c.3678T>G (p.Leu1226=) | |
Y | g.12790509C>A | CA414984077 | USP9Y | c.3664C>A (p.Leu1222Ile) n.3676C>A c.3430C>A (p.Leu1144Ile) c.3679C>A (p.Leu1227Ile) | |
Y | g.12790509C>G | CA414984080 | USP9Y | c.3664C>G (p.Leu1222Val) n.3676C>G c.3430C>G (p.Leu1144Val) c.3679C>G (p.Leu1227Val) | |
Y | g.12790509C>T | CA414984084 | USP9Y | c.3664C>T (p.Leu1222Phe) n.3676C>T c.3430C>T (p.Leu1144Phe) c.3679C>T (p.Leu1227Phe) | |
Y | g.12790510T>A | CA414984087 | USP9Y | c.3665T>A (p.Leu1222His) n.3677T>A c.3431T>A (p.Leu1144His) c.3680T>A (p.Leu1227His) | |
Y | g.12790510T>C | CA414984089 | USP9Y | c.3665T>C (p.Leu1222Pro) n.3677T>C c.3431T>C (p.Leu1144Pro) c.3680T>C (p.Leu1227Pro) | |
Y | g.12790510T>G | CA414984091 | USP9Y | c.3665T>G (p.Leu1222Arg) n.3677T>G c.3431T>G (p.Leu1144Arg) c.3680T>G (p.Leu1227Arg) | |
Y | g.12790511T>A | CA519860361 | USP9Y | c.3666T>A (p.Leu1222=) n.3678T>A c.3432T>A (p.Leu1144=) c.3681T>A (p.Leu1227=) | |
Y | g.12790511T>C | CA519860357 | USP9Y | c.3666T>C (p.Leu1222=) n.3678T>C c.3432T>C (p.Leu1144=) c.3681T>C (p.Leu1227=) | |
Y | g.12790511T>G | CA519860353 | USP9Y | c.3666T>G (p.Leu1222=) n.3678T>G c.3432T>G (p.Leu1144=) c.3681T>G (p.Leu1227=) | |
Y | g.12790512G>A | CA414984098 | USP9Y | c.3667G>A (p.Ala1223Thr) n.3679G>A c.3433G>A (p.Ala1145Thr) c.3682G>A (p.Ala1228Thr) | |
Y | g.12790512G>C | CA414984100 | USP9Y | c.3667G>C (p.Ala1223Pro) n.3679G>C c.3433G>C (p.Ala1145Pro) c.3682G>C (p.Ala1228Pro) | |
Y | g.12790512G>T | CA414984102 | USP9Y | c.3667G>T (p.Ala1223Ser) n.3679G>T c.3433G>T (p.Ala1145Ser) c.3682G>T (p.Ala1228Ser) | |
Y | g.12790513C>A | CA414984105 | USP9Y | c.3668C>A (p.Ala1223Asp) n.3680C>A c.3434C>A (p.Ala1145Asp) c.3683C>A (p.Ala1228Asp) | |
Y | g.12790513C>G | CA414984107 | USP9Y | c.3668C>G (p.Ala1223Gly) n.3680C>G c.3434C>G (p.Ala1145Gly) c.3683C>G (p.Ala1228Gly) | |
Y | g.12790513C>T | CA414984110 | USP9Y | c.3668C>T (p.Ala1223Val) n.3680C>T c.3434C>T (p.Ala1145Val) c.3683C>T (p.Ala1228Val) | |
Y | g.12790514T>A | CA519860435 | USP9Y | c.3669T>A (p.Ala1223=) n.3681T>A c.3435T>A (p.Ala1145=) c.3684T>A (p.Ala1228=) | |
Y | g.12790514T>C | CA519860438 | USP9Y | c.3669T>C (p.Ala1223=) n.3681T>C c.3435T>C (p.Ala1145=) c.3684T>C (p.Ala1228=) | |
Y | g.12790514T>G | CA519860442 | USP9Y | c.3669T>G (p.Ala1223=) n.3681T>G c.3435T>G (p.Ala1145=) c.3684T>G (p.Ala1228=) | |
Y | g.12790515C>A | CA414984117 | USP9Y | c.3670C>A (p.Gln1224Lys) n.3682C>A c.3436C>A (p.Gln1146Lys) c.3685C>A (p.Gln1229Lys) | |
Y | g.12790515C>G | CA414984120 | USP9Y | c.3670C>G (p.Gln1224Glu) n.3682C>G c.3436C>G (p.Gln1146Glu) c.3685C>G (p.Gln1229Glu) | |
Y | g.12790515C>T | CA414984114 | USP9Y | c.3670C>T (p.Gln1224Ter) n.3682C>T c.3436C>T (p.Gln1146Ter) c.3685C>T (p.Gln1229Ter) | |
Y | g.12790516A>C | CA414984127 | USP9Y | c.3671A>C (p.Gln1224Pro) n.3683A>C c.3437A>C (p.Gln1146Pro) c.3686A>C (p.Gln1229Pro) | |
Y | g.12790516A>G | CA414984123 | USP9Y | c.3671A>G (p.Gln1224Arg) n.3683A>G c.3437A>G (p.Gln1146Arg) c.3686A>G (p.Gln1229Arg) | gnomAD v3 gnomAD v4 |
Y | g.12790516A>T | CA414984138 | USP9Y | c.3671A>T (p.Gln1224Leu) n.3683A>T c.3437A>T (p.Gln1146Leu) c.3686A>T (p.Gln1229Leu) | |
Y | g.12790517G>A | CA519860464 | USP9Y | c.3672G>A (p.Gln1224=) n.3684G>A c.3438G>A (p.Gln1146=) c.3687G>A (p.Gln1229=) | |
Y | g.12790517G>C | CA414984140 | USP9Y | c.3672G>C (p.Gln1224His) n.3684G>C c.3438G>C (p.Gln1146His) c.3687G>C (p.Gln1229His) | |
Y | g.12790517G>T | CA414984144 | USP9Y | c.3672G>T (p.Gln1224His) n.3684G>T c.3438G>T (p.Gln1146His) c.3687G>T (p.Gln1229His) | |
Y | g.12790518G>A | CA337720147 | USP9Y | c.3673G>A (p.Glu1225Lys) n.3685G>A c.3439G>A (p.Glu1147Lys) c.3688G>A (p.Glu1230Lys) | dbSNP |
Y | g.12790518G>C | CA414984152 | USP9Y | c.3673G>C (p.Glu1225Gln) n.3685G>C c.3439G>C (p.Glu1147Gln) c.3688G>C (p.Glu1230Gln) | |
Y | g.12790518G= | CA2470558133 | USP9Y | c.3673G= (p.Glu1225=) n.3685G= c.3439G= (p.Glu1147=) c.3688G= (p.Glu1230=) | |
Y | g.12790518G>T | CA414984155 | USP9Y | c.3673G>T (p.Glu1225Ter) n.3685G>T c.3439G>T (p.Glu1147Ter) c.3688G>T (p.Glu1230Ter) | |
Y | g.12790519A>C | CA414984161 | USP9Y | c.3674A>C (p.Glu1225Ala) n.3686A>C c.3440A>C (p.Glu1147Ala) c.3689A>C (p.Glu1230Ala) | |
Y | g.12790519A>G | CA414984163 | USP9Y | c.3674A>G (p.Glu1225Gly) n.3686A>G c.3440A>G (p.Glu1147Gly) c.3689A>G (p.Glu1230Gly) | |
Y | g.12790519A>T | CA414984165 | USP9Y | c.3674A>T (p.Glu1225Val) n.3686A>T c.3440A>T (p.Glu1147Val) c.3689A>T (p.Glu1230Val) | |
Y | g.12790520A>C | CA414984169 | USP9Y | c.3675A>C (p.Glu1225Asp) n.3687A>C c.3441A>C (p.Glu1147Asp) c.3690A>C (p.Glu1230Asp) | |
Y | g.12790520A>G | CA519860495 | USP9Y | c.3675A>G (p.Glu1225=) n.3687A>G c.3441A>G (p.Glu1147=) c.3690A>G (p.Glu1230=) | |
Y | g.12790520A>T | CA414984173 | USP9Y | c.3675A>T (p.Glu1225Asp) n.3687A>T c.3441A>T (p.Glu1147Asp) c.3690A>T (p.Glu1230Asp) | |
Y | g.12790521A>C | CA414984175 | USP9Y | c.3676A>C (p.Ile1226Leu) n.3688A>C c.3442A>C (p.Ile1148Leu) c.3691A>C (p.Ile1231Leu) | |
Y | g.12790521A>G | CA414984178 | USP9Y | c.3676A>G (p.Ile1226Val) n.3688A>G c.3442A>G (p.Ile1148Val) c.3691A>G (p.Ile1231Val) | |
Y | g.12790521A>T | CA414984181 | USP9Y | c.3676A>T (p.Ile1226Leu) n.3688A>T c.3442A>T (p.Ile1148Leu) c.3691A>T (p.Ile1231Leu) | |
Y | g.12790522T>A | CA414984187 | USP9Y | c.3677T>A (p.Ile1226Lys) n.3689T>A c.3443T>A (p.Ile1148Lys) c.3692T>A (p.Ile1231Lys) | |
Y | g.12790522T>C | CA414984184 | USP9Y | c.3677T>C (p.Ile1226Thr) n.3689T>C c.3443T>C (p.Ile1148Thr) c.3692T>C (p.Ile1231Thr) | |
Y | g.12790522T>G | CA414984185 | USP9Y | c.3677T>G (p.Ile1226Arg) n.3689T>G c.3443T>G (p.Ile1148Arg) c.3692T>G (p.Ile1231Arg) | |
Y | g.12790523A= | CA2470558134 | USP9Y | c.3678A= (p.Ile1226=) n.3690A= c.3444A= (p.Ile1148=) c.3693A= (p.Ile1231=) | |
Y | g.12790523A>C | CA519860530 | USP9Y | c.3678A>C (p.Ile1226=) n.3690A>C c.3444A>C (p.Ile1148=) c.3693A>C (p.Ile1231=) | |
Y | g.12790523A>G | CA10573268 | USP9Y | c.3678A>G (p.Ile1226Met) n.3690A>G c.3444A>G (p.Ile1148Met) c.3693A>G (p.Ile1231Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790523A>T | CA519860566 | USP9Y | c.3678A>T (p.Ile1226=) n.3690A>T c.3444A>T (p.Ile1148=) c.3693A>T (p.Ile1231=) | |
Y | g.12790524T>A | CA414984189 | USP9Y | c.3679T>A (p.Ser1227Thr) n.3691T>A c.3445T>A (p.Ser1149Thr) c.3694T>A (p.Ser1232Thr) | |
Y | g.12790524T>C | CA414984191 | USP9Y | c.3679T>C (p.Ser1227Pro) n.3691T>C c.3445T>C (p.Ser1149Pro) c.3694T>C (p.Ser1232Pro) | |
Y | g.12790524T>G | CA414984193 | USP9Y | c.3679T>G (p.Ser1227Ala) n.3691T>G c.3445T>G (p.Ser1149Ala) c.3694T>G (p.Ser1232Ala) | |
Y | g.12790525C>A | CA414984197 | USP9Y | c.3680C>A (p.Ser1227Tyr) n.3692C>A c.3446C>A (p.Ser1149Tyr) c.3695C>A (p.Ser1232Tyr) | |
Y | g.12790525C>G | CA414984201 | USP9Y | c.3680C>G (p.Ser1227Cys) n.3692C>G c.3446C>G (p.Ser1149Cys) c.3695C>G (p.Ser1232Cys) | |
Y | g.12790525C>T | CA414984203 | USP9Y | c.3680C>T (p.Ser1227Phe) n.3692C>T c.3446C>T (p.Ser1149Phe) c.3695C>T (p.Ser1232Phe) | |
Y | g.12790526T>A | CA519860586 | USP9Y | c.3681T>A (p.Ser1227=) n.3693T>A c.3447T>A (p.Ser1149=) c.3696T>A (p.Ser1232=) | |
Y | g.12790526T>C | CA519860587 | USP9Y | c.3681T>C (p.Ser1227=) n.3693T>C c.3447T>C (p.Ser1149=) c.3696T>C (p.Ser1232=) | |
Y | g.12790526T>G | CA519860588 | USP9Y | c.3681T>G (p.Ser1227=) n.3693T>G c.3447T>G (p.Ser1149=) c.3696T>G (p.Ser1232=) | |
Y | g.12790527A>C | CA414984207 | USP9Y | c.3682A>C (p.Asn1228His) n.3694A>C c.3448A>C (p.Asn1150His) c.3697A>C (p.Asn1233His) | |
Y | g.12790527A>G | CA414984209 | USP9Y | c.3682A>G (p.Asn1228Asp) n.3694A>G c.3448A>G (p.Asn1150Asp) c.3697A>G (p.Asn1233Asp) | |
Y | g.12790527A>T | CA414984211 | USP9Y | c.3682A>T (p.Asn1228Tyr) n.3694A>T c.3448A>T (p.Asn1150Tyr) c.3697A>T (p.Asn1233Tyr) | |
Y | g.12790528A>C | CA414984220 | USP9Y | c.3683A>C (p.Asn1228Thr) n.3695A>C c.3449A>C (p.Asn1150Thr) c.3698A>C (p.Asn1233Thr) | |
Y | g.12790528A>G | CA414984217 | USP9Y | c.3683A>G (p.Asn1228Ser) n.3695A>G c.3449A>G (p.Asn1150Ser) c.3698A>G (p.Asn1233Ser) | |
Y | g.12790528A>T | CA414984214 | USP9Y | c.3683A>T (p.Asn1228Ile) n.3695A>T c.3449A>T (p.Asn1150Ile) c.3698A>T (p.Asn1233Ile) | |
Y | g.12790529T>A | CA414984227 | USP9Y | c.3684T>A (p.Asn1228Lys) n.3696T>A c.3450T>A (p.Asn1150Lys) c.3699T>A (p.Asn1233Lys) | |
Y | g.12790529T>C | CA519860621 | USP9Y | c.3684T>C (p.Asn1228=) n.3696T>C c.3450T>C (p.Asn1150=) c.3699T>C (p.Asn1233=) | |
Y | g.12790529T>G | CA414984225 | USP9Y | c.3684T>G (p.Asn1228Lys) n.3696T>G c.3450T>G (p.Asn1150Lys) c.3699T>G (p.Asn1233Lys) | |
Y | g.12790530G>A | CA414984230 | USP9Y | c.3685G>A (p.Glu1229Lys) n.3697G>A c.3451G>A (p.Glu1151Lys) c.3700G>A (p.Glu1234Lys) | |
Y | g.12790530G>C | CA414984233 | USP9Y | c.3685G>C (p.Glu1229Gln) n.3697G>C c.3451G>C (p.Glu1151Gln) c.3700G>C (p.Glu1234Gln) | |
Y | g.12790530G>T | CA414984240 | USP9Y | c.3685G>T (p.Glu1229Ter) n.3697G>T c.3451G>T (p.Glu1151Ter) c.3700G>T (p.Glu1234Ter) | |
Y | g.12790531A>C | CA414984251 | USP9Y | c.3686A>C (p.Glu1229Ala) n.3698A>C c.3452A>C (p.Glu1151Ala) c.3701A>C (p.Glu1234Ala) | |
Y | g.12790531A>G | CA414984253 | USP9Y | c.3686A>G (p.Glu1229Gly) n.3698A>G c.3452A>G (p.Glu1151Gly) c.3701A>G (p.Glu1234Gly) | |
Y | g.12790531A>T | CA414984255 | USP9Y | c.3686A>T (p.Glu1229Val) n.3698A>T c.3452A>T (p.Glu1151Val) c.3701A>T (p.Glu1234Val) | |
Y | g.12790532G>A | CA519860637 | USP9Y | c.3687G>A (p.Glu1229=) n.3699G>A c.3453G>A (p.Glu1151=) c.3702G>A (p.Glu1234=) | gnomAD v3 gnomAD v4 |
Y | g.12790532G>C | CA337720148 | USP9Y | c.3687G>C (p.Glu1229Asp) n.3699G>C c.3453G>C (p.Glu1151Asp) c.3702G>C (p.Glu1234Asp) | dbSNP gnomAD v2 gnomAD v3 |
Y | g.12790532G= | CA2470558135 | USP9Y | c.3687G= (p.Glu1229=) n.3699G= c.3453G= (p.Glu1151=) c.3702G= (p.Glu1234=) | |
Y | g.12790532G>T | CA414984258 | USP9Y | c.3687G>T (p.Glu1229Asp) n.3699G>T c.3453G>T (p.Glu1151Asp) c.3702G>T (p.Glu1234Asp) | |
Y | g.12790533G>A | CA414984263 | USP9Y | c.3687+1G>A (n.3687+1G>A) n.3699+1G>A c.3453+1G>A (n.3453+1G>A) c.3702+1G>A (n.3702+1G>A) | |
Y | g.12790533G>C | CA414984266 | USP9Y | c.3687+1G>C (n.3687+1G>C) n.3699+1G>C c.3453+1G>C (n.3453+1G>C) c.3702+1G>C (n.3702+1G>C) | |
Y | g.12790533G>T | CA414984267 | USP9Y | c.3687+1G>T (n.3687+1G>T) n.3699+1G>T c.3453+1G>T (n.3453+1G>T) c.3702+1G>T (n.3702+1G>T) | |
Y | g.12790535_12790538del | CA2766241543 | USP9Y | c.3687+3_3687+6del (n.3687+3_3687+6del) n.3699+3_3699+6del c.3453+3_3453+6del (n.3453+3_3453+6del) c.3702+3_3702+6del (n.3702+3_3702+6del) | |
Y | g.12790534T>A | CA414984278 | USP9Y | c.3687+2T>A (n.3687+2T>A) n.3699+2T>A c.3453+2T>A (n.3453+2T>A) c.3702+2T>A (n.3702+2T>A) | |
Y | g.12790534T>C | CA414984270 | USP9Y | c.3687+2T>C (n.3687+2T>C) n.3699+2T>C c.3453+2T>C (n.3453+2T>C) c.3702+2T>C (n.3702+2T>C) | |
Y | g.12790534T>G | CA414984276 | USP9Y | c.3687+2T>G (n.3687+2T>G) n.3699+2T>G c.3453+2T>G (n.3453+2T>G) c.3702+2T>G (n.3702+2T>G) | |
Y | g.12790537G>C | CA645286572 | USP9Y | c.3687+5G>C (n.3687+5G>C) n.3699+5G>C c.3453+5G>C (n.3453+5G>C) c.3702+5G>C (n.3702+5G>C) | dbSNP gnomAD v2 |
Y | g.12790537G= | CA2470558136 | USP9Y | c.3687+5G= (n.3687+5G=) n.3699+5G= c.3453+5G= (n.3453+5G=) c.3702+5G= (n.3702+5G=) | |
Y | g.12790540T>C | CA2579747871 | USP9Y | c.3687+8T>C (n.3687+8T>C) n.3699+8T>C c.3453+8T>C (n.3453+8T>C) c.3702+8T>C (n.3702+8T>C) | |
Y | g.12790540T>G | CA10573269 | USP9Y | c.3687+8T>G (n.3687+8T>G) n.3699+8T>G c.3453+8T>G (n.3453+8T>G) c.3702+8T>G (n.3702+8T>G) | dbSNP ExAC gnomAD v2 |
Y | g.12790540T= | CA2470558137 | USP9Y | c.3687+8T= (n.3687+8T=) n.3699+8T= c.3453+8T= (n.3453+8T=) c.3702+8T= (n.3702+8T=) | |
Y | g.12790541G>A | CA2766241544 | USP9Y | c.3687+9G>A (n.3687+9G>A) n.3699+9G>A c.3453+9G>A (n.3453+9G>A) c.3702+9G>A (n.3702+9G>A) | |
Y | g.12790541G>T | CA2515514314 | USP9Y | c.3687+9G>T (n.3687+9G>T) n.3699+9G>T c.3453+9G>T (n.3453+9G>T) c.3702+9G>T (n.3702+9G>T) | |
Y | g.12790548_12790555del | CA2579747872 | USP9Y | c.3687+16_3687+23del (n.3687+16_3687+23del) n.3699+16_3699+23del c.3453+16_3453+23del (n.3453+16_3453+23del) c.3702+16_3702+23del (n.3702+16_3702+23del) |