Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12790445A>CCA414983608USP9Yc.3600A>C (p.Gln1200His)
n.3612A>C
c.3366A>C (p.Gln1122His)
c.3615A>C (p.Gln1205His)
Yg.12790445A>GCA519859574USP9Yc.3600A>G (p.Gln1200=)
n.3612A>G
c.3366A>G (p.Gln1122=)
c.3615A>G (p.Gln1205=)
Yg.12790445A>TCA414983610USP9Yc.3600A>T (p.Gln1200His)
n.3612A>T
c.3366A>T (p.Gln1122His)
c.3615A>T (p.Gln1205His)
Yg.12790446A>CCA414983612USP9Yc.3601A>C (p.Ser1201Arg)
n.3613A>C
c.3367A>C (p.Ser1123Arg)
c.3616A>C (p.Ser1206Arg)
Yg.12790446A>GCA414983614USP9Yc.3601A>G (p.Ser1201Gly)
n.3613A>G
c.3367A>G (p.Ser1123Gly)
c.3616A>G (p.Ser1206Gly)
Yg.12790446A>TCA414983620USP9Yc.3601A>T (p.Ser1201Cys)
n.3613A>T
c.3367A>T (p.Ser1123Cys)
c.3616A>T (p.Ser1206Cys)
Yg.12790447G>ACA414983622USP9Yc.3602G>A (p.Ser1201Asn)
n.3614G>A
c.3368G>A (p.Ser1123Asn)
c.3617G>A (p.Ser1206Asn)
Yg.12790447G>CCA414983624USP9Yc.3602G>C (p.Ser1201Thr)
n.3614G>C
c.3368G>C (p.Ser1123Thr)
c.3617G>C (p.Ser1206Thr)
Yg.12790447G>TCA414983623USP9Yc.3602G>T (p.Ser1201Ile)
n.3614G>T
c.3368G>T (p.Ser1123Ile)
c.3617G>T (p.Ser1206Ile)
gnomAD v3 gnomAD v4
Yg.12790448T>ACA414983625USP9Yc.3603T>A (p.Ser1201Arg)
n.3615T>A
c.3369T>A (p.Ser1123Arg)
c.3618T>A (p.Ser1206Arg)
Yg.12790448T>CCA519859618USP9Yc.3603T>C (p.Ser1201=)
n.3615T>C
c.3369T>C (p.Ser1123=)
c.3618T>C (p.Ser1206=)
Yg.12790448T>GCA414983626USP9Yc.3603T>G (p.Ser1201Arg)
n.3615T>G
c.3369T>G (p.Ser1123Arg)
c.3618T>G (p.Ser1206Arg)
Yg.12790449G>ACA414983628USP9Yc.3604G>A (p.Ala1202Thr)
n.3616G>A
c.3370G>A (p.Ala1124Thr)
c.3619G>A (p.Ala1207Thr)
Yg.12790449G>CCA414983632USP9Yc.3604G>C (p.Ala1202Pro)
n.3616G>C
c.3370G>C (p.Ala1124Pro)
c.3619G>C (p.Ala1207Pro)
Yg.12790449G>TCA414983637USP9Yc.3604G>T (p.Ala1202Ser)
n.3616G>T
c.3370G>T (p.Ala1124Ser)
c.3619G>T (p.Ala1207Ser)
Yg.12790450C>ACA414983638USP9Yc.3605C>A (p.Ala1202Asp)
n.3617C>A
c.3371C>A (p.Ala1124Asp)
c.3620C>A (p.Ala1207Asp)
Yg.12790450C>GCA414983641USP9Yc.3605C>G (p.Ala1202Gly)
n.3617C>G
c.3371C>G (p.Ala1124Gly)
c.3620C>G (p.Ala1207Gly)
Yg.12790450C>TCA414983651USP9Yc.3605C>T (p.Ala1202Val)
n.3617C>T
c.3371C>T (p.Ala1124Val)
c.3620C>T (p.Ala1207Val)
Yg.12790451C>ACA519859631USP9Yc.3606C>A (p.Ala1202=)
n.3618C>A
c.3372C>A (p.Ala1124=)
c.3621C>A (p.Ala1207=)
Yg.12790451C>GCA519859635USP9Yc.3606C>G (p.Ala1202=)
n.3618C>G
c.3372C>G (p.Ala1124=)
c.3621C>G (p.Ala1207=)
Yg.12790451C>TCA519859639USP9Yc.3606C>T (p.Ala1202=)
n.3618C>T
c.3372C>T (p.Ala1124=)
c.3621C>T (p.Ala1207=)
Yg.12790452C>ACA414983672USP9Yc.3607C>A (p.Leu1203Ile)
n.3619C>A
c.3373C>A (p.Leu1125Ile)
c.3622C>A (p.Leu1208Ile)
Yg.12790452C>GCA414983689USP9Yc.3607C>G (p.Leu1203Val)
n.3619C>G
c.3373C>G (p.Leu1125Val)
c.3622C>G (p.Leu1208Val)
Yg.12790452C>TCA414983668USP9Yc.3607C>T (p.Leu1203Phe)
n.3619C>T
c.3373C>T (p.Leu1125Phe)
c.3622C>T (p.Leu1208Phe)
Yg.12790453T>ACA414983692USP9Yc.3608T>A (p.Leu1203His)
n.3620T>A
c.3374T>A (p.Leu1125His)
c.3623T>A (p.Leu1208His)
Yg.12790453T>CCA414983696USP9Yc.3608T>C (p.Leu1203Pro)
n.3620T>C
c.3374T>C (p.Leu1125Pro)
c.3623T>C (p.Leu1208Pro)
Yg.12790453T>GCA414983697USP9Yc.3608T>G (p.Leu1203Arg)
n.3620T>G
c.3374T>G (p.Leu1125Arg)
c.3623T>G (p.Leu1208Arg)
Yg.12790454T>ACA519859692USP9Yc.3609T>A (p.Leu1203=)
n.3621T>A
c.3375T>A (p.Leu1125=)
c.3624T>A (p.Leu1208=)
Yg.12790454T>CCA519859695USP9Yc.3609T>C (p.Leu1203=)
n.3621T>C
c.3375T>C (p.Leu1125=)
c.3624T>C (p.Leu1208=)
Yg.12790454T>GCA519859700USP9Yc.3609T>G (p.Leu1203=)
n.3621T>G
c.3375T>G (p.Leu1125=)
c.3624T>G (p.Leu1208=)
Yg.12790455C>ACA414983700USP9Yc.3610C>A (p.Gln1204Lys)
n.3622C>A
c.3376C>A (p.Gln1126Lys)
c.3625C>A (p.Gln1209Lys)
Yg.12790455C>GCA414983702USP9Yc.3610C>G (p.Gln1204Glu)
n.3622C>G
c.3376C>G (p.Gln1126Glu)
c.3625C>G (p.Gln1209Glu)
Yg.12790455C>TCA414983703USP9Yc.3610C>T (p.Gln1204Ter)
n.3622C>T
c.3376C>T (p.Gln1126Ter)
c.3625C>T (p.Gln1209Ter)
Yg.12790456A>CCA414983705USP9Yc.3611A>C (p.Gln1204Pro)
n.3623A>C
c.3377A>C (p.Gln1126Pro)
c.3626A>C (p.Gln1209Pro)
Yg.12790456A>GCA414983707USP9Yc.3611A>G (p.Gln1204Arg)
n.3623A>G
c.3377A>G (p.Gln1126Arg)
c.3626A>G (p.Gln1209Arg)
Yg.12790456A>TCA414983711USP9Yc.3611A>T (p.Gln1204Leu)
n.3623A>T
c.3377A>T (p.Gln1126Leu)
c.3626A>T (p.Gln1209Leu)
Yg.12790457G>ACA519859716USP9Yc.3612G>A (p.Gln1204=)
n.3624G>A
c.3378G>A (p.Gln1126=)
c.3627G>A (p.Gln1209=)
Yg.12790457G>CCA414983713USP9Yc.3612G>C (p.Gln1204His)
n.3624G>C
c.3378G>C (p.Gln1126His)
c.3627G>C (p.Gln1209His)
Yg.12790457G>TCA414983715USP9Yc.3612G>T (p.Gln1204His)
n.3624G>T
c.3378G>T (p.Gln1126His)
c.3627G>T (p.Gln1209His)
Yg.12790458A>CCA414983720USP9Yc.3613A>C (p.Ser1205Arg)
n.3625A>C
c.3379A>C (p.Ser1127Arg)
c.3628A>C (p.Ser1210Arg)
Yg.12790458A>GCA414983718USP9Yc.3613A>G (p.Ser1205Gly)
n.3625A>G
c.3379A>G (p.Ser1127Gly)
c.3628A>G (p.Ser1210Gly)
Yg.12790458A>TCA414983717USP9Yc.3613A>T (p.Ser1205Cys)
n.3625A>T
c.3379A>T (p.Ser1127Cys)
c.3628A>T (p.Ser1210Cys)
Yg.12790459G>ACA414983722USP9Yc.3614G>A (p.Ser1205Asn)
n.3626G>A
c.3380G>A (p.Ser1127Asn)
c.3629G>A (p.Ser1210Asn)
Yg.12790459G>CCA414983725USP9Yc.3614G>C (p.Ser1205Thr)
n.3626G>C
c.3380G>C (p.Ser1127Thr)
c.3629G>C (p.Ser1210Thr)
Yg.12790459G>TCA414983727USP9Yc.3614G>T (p.Ser1205Ile)
n.3626G>T
c.3380G>T (p.Ser1127Ile)
c.3629G>T (p.Ser1210Ile)
Yg.12790460C>ACA414983730USP9Yc.3615C>A (p.Ser1205Arg)
n.3627C>A
c.3381C>A (p.Ser1127Arg)
c.3630C>A (p.Ser1210Arg)
Yg.12790460C>GCA414983732USP9Yc.3615C>G (p.Ser1205Arg)
n.3627C>G
c.3381C>G (p.Ser1127Arg)
c.3630C>G (p.Ser1210Arg)
Yg.12790460C>TCA519859748USP9Yc.3615C>T (p.Ser1205=)
n.3627C>T
c.3381C>T (p.Ser1127=)
c.3630C>T (p.Ser1210=)
Yg.12790461A>CCA414983734USP9Yc.3616A>C (p.Ile1206Leu)
n.3628A>C
c.3382A>C (p.Ile1128Leu)
c.3631A>C (p.Ile1211Leu)
Yg.12790461A>GCA414983735USP9Yc.3616A>G (p.Ile1206Val)
n.3628A>G
c.3382A>G (p.Ile1128Val)
c.3631A>G (p.Ile1211Val)
Yg.12790461A>TCA414983736USP9Yc.3616A>T (p.Ile1206Phe)
n.3628A>T
c.3382A>T (p.Ile1128Phe)
c.3631A>T (p.Ile1211Phe)
Yg.12790462T>ACA414983737USP9Yc.3617T>A (p.Ile1206Asn)
n.3629T>A
c.3383T>A (p.Ile1128Asn)
c.3632T>A (p.Ile1211Asn)
Yg.12790462T>CCA414983738USP9Yc.3617T>C (p.Ile1206Thr)
n.3629T>C
c.3383T>C (p.Ile1128Thr)
c.3632T>C (p.Ile1211Thr)
Yg.12790462T>GCA414983739USP9Yc.3617T>G (p.Ile1206Ser)
n.3629T>G
c.3383T>G (p.Ile1128Ser)
c.3632T>G (p.Ile1211Ser)
Yg.12790463T>ACA519859783USP9Yc.3618T>A (p.Ile1206=)
n.3630T>A
c.3384T>A (p.Ile1128=)
c.3633T>A (p.Ile1211=)
Yg.12790463T>CCA519859784USP9Yc.3618T>C (p.Ile1206=)
n.3630T>C
c.3384T>C (p.Ile1128=)
c.3633T>C (p.Ile1211=)
Yg.12790463T>GCA414983741USP9Yc.3618T>G (p.Ile1206Met)
n.3630T>G
c.3384T>G (p.Ile1128Met)
c.3633T>G (p.Ile1211Met)
Yg.12790464C>ACA414983748USP9Yc.3619C>A (p.Pro1207Thr)
n.3631C>A
c.3385C>A (p.Pro1129Thr)
c.3634C>A (p.Pro1212Thr)
Yg.12790464C>GCA414983745USP9Yc.3619C>G (p.Pro1207Ala)
n.3631C>G
c.3385C>G (p.Pro1129Ala)
c.3634C>G (p.Pro1212Ala)
Yg.12790464C>TCA414983743USP9Yc.3619C>T (p.Pro1207Ser)
n.3631C>T
c.3385C>T (p.Pro1129Ser)
c.3634C>T (p.Pro1212Ser)
Yg.12790465C>ACA414983752USP9Yc.3620C>A (p.Pro1207His)
n.3632C>A
c.3386C>A (p.Pro1129His)
c.3635C>A (p.Pro1212His)
Yg.12790465C>GCA414983757USP9Yc.3620C>G (p.Pro1207Arg)
n.3632C>G
c.3386C>G (p.Pro1129Arg)
c.3635C>G (p.Pro1212Arg)
Yg.12790465C>TCA414983754USP9Yc.3620C>T (p.Pro1207Leu)
n.3632C>T
c.3386C>T (p.Pro1129Leu)
c.3635C>T (p.Pro1212Leu)
Yg.12790466T>ACA519859796USP9Yc.3621T>A (p.Pro1207=)
n.3633T>A
c.3387T>A (p.Pro1129=)
c.3636T>A (p.Pro1212=)
Yg.12790466T>CCA519859798USP9Yc.3621T>C (p.Pro1207=)
n.3633T>C
c.3387T>C (p.Pro1129=)
c.3636T>C (p.Pro1212=)
Yg.12790466T>GCA519859802USP9Yc.3621T>G (p.Pro1207=)
n.3633T>G
c.3387T>G (p.Pro1129=)
c.3636T>G (p.Pro1212=)
Yg.12790467A>CCA414983760USP9Yc.3622A>C (p.Asn1208His)
n.3634A>C
c.3388A>C (p.Asn1130His)
c.3637A>C (p.Asn1213His)
Yg.12790467A>GCA414983763USP9Yc.3622A>G (p.Asn1208Asp)
n.3634A>G
c.3388A>G (p.Asn1130Asp)
c.3637A>G (p.Asn1213Asp)
Yg.12790467A>TCA414983764USP9Yc.3622A>T (p.Asn1208Tyr)
n.3634A>T
c.3388A>T (p.Asn1130Tyr)
c.3637A>T (p.Asn1213Tyr)
Yg.12790468A>CCA414983767USP9Yc.3623A>C (p.Asn1208Thr)
n.3635A>C
c.3389A>C (p.Asn1130Thr)
c.3638A>C (p.Asn1213Thr)
Yg.12790468A>GCA414983770USP9Yc.3623A>G (p.Asn1208Ser)
n.3635A>G
c.3389A>G (p.Asn1130Ser)
c.3638A>G (p.Asn1213Ser)
Yg.12790468A>TCA414983773USP9Yc.3623A>T (p.Asn1208Ile)
n.3635A>T
c.3389A>T (p.Asn1130Ile)
c.3638A>T (p.Asn1213Ile)
Yg.12790469T>ACA414983775USP9Yc.3624T>A (p.Asn1208Lys)
n.3636T>A
c.3390T>A (p.Asn1130Lys)
c.3639T>A (p.Asn1213Lys)
Yg.12790469T>CCA519859825USP9Yc.3624T>C (p.Asn1208=)
n.3636T>C
c.3390T>C (p.Asn1130=)
c.3639T>C (p.Asn1213=)
Yg.12790469T>GCA414983778USP9Yc.3624T>G (p.Asn1208Lys)
n.3636T>G
c.3390T>G (p.Asn1130Lys)
c.3639T>G (p.Asn1213Lys)
Yg.12790470C>ACA414983782USP9Yc.3625C>A (p.Pro1209Thr)
n.3637C>A
c.3391C>A (p.Pro1131Thr)
c.3640C>A (p.Pro1214Thr)
Yg.12790470C=CA2470558125USP9Yc.3625C= (p.Pro1209=)
n.3637C=
c.3391C= (p.Pro1131=)
c.3640C= (p.Pro1214=)
Yg.12790470C>GCA10573263USP9Yc.3625C>G (p.Pro1209Ala)
n.3637C>G
c.3391C>G (p.Pro1131Ala)
c.3640C>G (p.Pro1214Ala)
dbSNP ExAC
Yg.12790470C>TCA414983787USP9Yc.3625C>T (p.Pro1209Ser)
n.3637C>T
c.3391C>T (p.Pro1131Ser)
c.3640C>T (p.Pro1214Ser)
COSMIC
Yg.12790471C>ACA414983794USP9Yc.3626C>A (p.Pro1209His)
n.3638C>A
c.3392C>A (p.Pro1131His)
c.3641C>A (p.Pro1214His)
Yg.12790471C>GCA414983793USP9Yc.3626C>G (p.Pro1209Arg)
n.3638C>G
c.3392C>G (p.Pro1131Arg)
c.3641C>G (p.Pro1214Arg)
Yg.12790471C>TCA414983790USP9Yc.3626C>T (p.Pro1209Leu)
n.3638C>T
c.3392C>T (p.Pro1131Leu)
c.3641C>T (p.Pro1214Leu)
COSMIC
Yg.12790472C>ACA519859854USP9Yc.3627C>A (p.Pro1209=)
n.3639C>A
c.3393C>A (p.Pro1131=)
c.3642C>A (p.Pro1214=)
Yg.12790472C>GCA519859857USP9Yc.3627C>G (p.Pro1209=)
n.3639C>G
c.3393C>G (p.Pro1131=)
c.3642C>G (p.Pro1214=)
Yg.12790472C>TCA519859862USP9Yc.3627C>T (p.Pro1209=)
n.3639C>T
c.3393C>T (p.Pro1131=)
c.3642C>T (p.Pro1214=)
Yg.12790473T>ACA414983798USP9Yc.3628T>A (p.Ser1210Thr)
n.3640T>A
c.3394T>A (p.Ser1132Thr)
c.3643T>A (p.Ser1215Thr)
Yg.12790473T>CCA414983801USP9Yc.3628T>C (p.Ser1210Pro)
n.3640T>C
c.3394T>C (p.Ser1132Pro)
c.3643T>C (p.Ser1215Pro)
Yg.12790473T>GCA414983803USP9Yc.3628T>G (p.Ser1210Ala)
n.3640T>G
c.3394T>G (p.Ser1132Ala)
c.3643T>G (p.Ser1215Ala)
Yg.12790474C>ACA414983806USP9Yc.3629C>A (p.Ser1210Ter)
n.3641C>A
c.3395C>A (p.Ser1132Ter)
c.3644C>A (p.Ser1215Ter)
Yg.12790474C>GCA414983808USP9Yc.3629C>G (p.Ser1210Ter)
n.3641C>G
c.3395C>G (p.Ser1132Ter)
c.3644C>G (p.Ser1215Ter)
Yg.12790474C>TCA414983811USP9Yc.3629C>T (p.Ser1210Leu)
n.3641C>T
c.3395C>T (p.Ser1132Leu)
c.3644C>T (p.Ser1215Leu)
Yg.12790475A>CCA519859894USP9Yc.3630A>C (p.Ser1210=)
n.3642A>C
c.3396A>C (p.Ser1132=)
c.3645A>C (p.Ser1215=)
Yg.12790475A>GCA519859890USP9Yc.3630A>G (p.Ser1210=)
n.3642A>G
c.3396A>G (p.Ser1132=)
c.3645A>G (p.Ser1215=)
Yg.12790475A>TCA519859876USP9Yc.3630A>T (p.Ser1210=)
n.3642A>T
c.3396A>T (p.Ser1132=)
c.3645A>T (p.Ser1215=)
gnomAD v3 gnomAD v4
Yg.12790476T>ACA414983817USP9Yc.3631T>A (p.Ser1211Thr)
n.3643T>A
c.3397T>A (p.Ser1133Thr)
c.3646T>A (p.Ser1216Thr)
Yg.12790476T>CCA414983819USP9Yc.3631T>C (p.Ser1211Pro)
n.3643T>C
c.3397T>C (p.Ser1133Pro)
c.3646T>C (p.Ser1216Pro)
Yg.12790476T>GCA414983822USP9Yc.3631T>G (p.Ser1211Ala)
n.3643T>G
c.3397T>G (p.Ser1133Ala)
c.3646T>G (p.Ser1216Ala)
Yg.12790477C>ACA414983826USP9Yc.3632C>A (p.Ser1211Tyr)
n.3644C>A
c.3398C>A (p.Ser1133Tyr)
c.3647C>A (p.Ser1216Tyr)
Yg.12790477C>GCA414983829USP9Yc.3632C>G (p.Ser1211Cys)
n.3644C>G
c.3398C>G (p.Ser1133Cys)
c.3647C>G (p.Ser1216Cys)
Yg.12790477C>TCA414983832USP9Yc.3632C>T (p.Ser1211Phe)
n.3644C>T
c.3398C>T (p.Ser1133Phe)
c.3647C>T (p.Ser1216Phe)
Yg.12790478C>ACA519859903USP9Yc.3633C>A (p.Ser1211=)
n.3645C>A
c.3399C>A (p.Ser1133=)
c.3648C>A (p.Ser1216=)
Yg.12790478C=CA2470558126USP9Yc.3633C= (p.Ser1211=)
n.3645C=
c.3399C= (p.Ser1133=)
c.3648C= (p.Ser1216=)
Yg.12790478C>GCA519859909USP9Yc.3633C>G (p.Ser1211=)
n.3645C>G
c.3399C>G (p.Ser1133=)
c.3648C>G (p.Ser1216=)
Yg.12790478C>TCA10573264USP9Yc.3633C>T (p.Ser1211=)
n.3645C>T
c.3399C>T (p.Ser1133=)
c.3648C>T (p.Ser1216=)
dbSNP ExAC gnomAD v3 gnomAD v4
Yg.12790479G>ACA337720146USP9Yc.3634G>A (p.Glu1212Lys)
n.3646G>A
c.3400G>A (p.Glu1134Lys)
c.3649G>A (p.Glu1217Lys)
dbSNP
Yg.12790479G>CCA414983839USP9Yc.3634G>C (p.Glu1212Gln)
n.3646G>C
c.3400G>C (p.Glu1134Gln)
c.3649G>C (p.Glu1217Gln)
Yg.12790479G=CA2470558127USP9Yc.3634G= (p.Glu1212=)
n.3646G=
c.3400G= (p.Glu1134=)
c.3649G= (p.Glu1217=)
Yg.12790479G>TCA414983846USP9Yc.3634G>T (p.Glu1212Ter)
n.3646G>T
c.3400G>T (p.Glu1134Ter)
c.3649G>T (p.Glu1217Ter)
Yg.12790480A>CCA414983849USP9Yc.3635A>C (p.Glu1212Ala)
n.3647A>C
c.3401A>C (p.Glu1134Ala)
c.3650A>C (p.Glu1217Ala)
Yg.12790480A>GCA414983854USP9Yc.3635A>G (p.Glu1212Gly)
n.3647A>G
c.3401A>G (p.Glu1134Gly)
c.3650A>G (p.Glu1217Gly)
Yg.12790480A>TCA414983860USP9Yc.3635A>T (p.Glu1212Val)
n.3647A>T
c.3401A>T (p.Glu1134Val)
c.3650A>T (p.Glu1217Val)
Yg.12790481G>ACA10573265USP9Yc.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
Yg.12790481G>CCA414983865USP9Yc.3636G>C (p.Glu1212Asp)
n.3648G>C
c.3402G>C (p.Glu1134Asp)
c.3651G>C (p.Glu1217Asp)
Yg.12790481G=CA2470558128USP9Yc.3636G= (p.Glu1212=)
n.3648G=
c.3402G= (p.Glu1134=)
c.3651G= (p.Glu1217=)
Yg.12790481G>TCA414983868USP9Yc.3636G>T (p.Glu1212Asp)
n.3648G>T
c.3402G>T (p.Glu1134Asp)
c.3651G>T (p.Glu1217Asp)
Yg.12790482T>ACA414983872USP9Yc.3637T>A (p.Cys1213Ser)
n.3649T>A
c.3403T>A (p.Cys1135Ser)
c.3652T>A (p.Cys1218Ser)
Yg.12790482T>CCA414983874USP9Yc.3637T>C (p.Cys1213Arg)
n.3649T>C
c.3403T>C (p.Cys1135Arg)
c.3652T>C (p.Cys1218Arg)
Yg.12790482T>GCA414983876USP9Yc.3637T>G (p.Cys1213Gly)
n.3649T>G
c.3403T>G (p.Cys1135Gly)
c.3652T>G (p.Cys1218Gly)
Yg.12790483G>ACA414983887USP9Yc.3638G>A (p.Cys1213Tyr)
n.3650G>A
c.3404G>A (p.Cys1135Tyr)
c.3653G>A (p.Cys1218Tyr)
Yg.12790483G>CCA414983883USP9Yc.3638G>C (p.Cys1213Ser)
n.3650G>C
c.3404G>C (p.Cys1135Ser)
c.3653G>C (p.Cys1218Ser)
Yg.12790483G>TCA414983881USP9Yc.3638G>T (p.Cys1213Phe)
n.3650G>T
c.3404G>T (p.Cys1135Phe)
c.3653G>T (p.Cys1218Phe)
Yg.12790484C>ACA414983891USP9Yc.3639C>A (p.Cys1213Ter)
n.3651C>A
c.3405C>A (p.Cys1135Ter)
c.3654C>A (p.Cys1218Ter)
Yg.12790484C=CA2470558129USP9Yc.3639C= (p.Cys1213=)
n.3651C=
c.3405C= (p.Cys1135=)
c.3654C= (p.Cys1218=)
Yg.12790484C>GCA414983898USP9Yc.3639C>G (p.Cys1213Trp)
n.3651C>G
c.3405C>G (p.Cys1135Trp)
c.3654C>G (p.Cys1218Trp)
Yg.12790484C>TCA10573266USP9Yc.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
Yg.12790485G>ACA10573267USP9Yc.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
Yg.12790485G>CCA414983905USP9Yc.3640G>C (p.Val1214Leu)
n.3652G>C
c.3406G>C (p.Val1136Leu)
c.3655G>C (p.Val1219Leu)
Yg.12790485G=CA2470558130USP9Yc.3640G= (p.Val1214=)
n.3652G=
c.3406G= (p.Val1136=)
c.3655G= (p.Val1219=)
Yg.12790485G>TCA414983908USP9Yc.3640G>T (p.Val1214Leu)
n.3652G>T
c.3406G>T (p.Val1136Leu)
c.3655G>T (p.Val1219Leu)
Yg.12790486T>ACA414983910USP9Yc.3641T>A (p.Val1214Glu)
n.3653T>A
c.3407T>A (p.Val1136Glu)
c.3656T>A (p.Val1219Glu)
Yg.12790486T>CCA414983913USP9Yc.3641T>C (p.Val1214Ala)
n.3653T>C
c.3407T>C (p.Val1136Ala)
c.3656T>C (p.Val1219Ala)
Yg.12790486T>GCA414983916USP9Yc.3641T>G (p.Val1214Gly)
n.3653T>G
c.3407T>G (p.Val1136Gly)
c.3656T>G (p.Val1219Gly)
Yg.12790487A>CCA519859986USP9Yc.3642A>C (p.Val1214=)
n.3654A>C
c.3408A>C (p.Val1136=)
c.3657A>C (p.Val1219=)
Yg.12790487A>GCA519859990USP9Yc.3642A>G (p.Val1214=)
n.3654A>G
c.3408A>G (p.Val1136=)
c.3657A>G (p.Val1219=)
Yg.12790487A>TCA519860005USP9Yc.3642A>T (p.Val1214=)
n.3654A>T
c.3408A>T (p.Val1136=)
c.3657A>T (p.Val1219=)
Yg.12790488C>ACA414983918USP9Yc.3643C>A (p.Leu1215Ile)
n.3655C>A
c.3409C>A (p.Leu1137Ile)
c.3658C>A (p.Leu1220Ile)
Yg.12790488C>GCA414983921USP9Yc.3643C>G (p.Leu1215Val)
n.3655C>G
c.3409C>G (p.Leu1137Val)
c.3658C>G (p.Leu1220Val)
Yg.12790488C>TCA414983924USP9Yc.3643C>T (p.Leu1215Phe)
n.3655C>T
c.3409C>T (p.Leu1137Phe)
c.3658C>T (p.Leu1220Phe)
Yg.12790489T>ACA414983931USP9Yc.3644T>A (p.Leu1215His)
n.3656T>A
c.3410T>A (p.Leu1137His)
c.3659T>A (p.Leu1220His)
Yg.12790489T>CCA414983935USP9Yc.3644T>C (p.Leu1215Pro)
n.3656T>C
c.3410T>C (p.Leu1137Pro)
c.3659T>C (p.Leu1220Pro)
Yg.12790489T>GCA414983932USP9Yc.3644T>G (p.Leu1215Arg)
n.3656T>G
c.3410T>G (p.Leu1137Arg)
c.3659T>G (p.Leu1220Arg)
Yg.12790490T>ACA519860050USP9Yc.3645T>A (p.Leu1215=)
n.3657T>A
c.3411T>A (p.Leu1137=)
c.3660T>A (p.Leu1220=)
Yg.12790490T>CCA519860045USP9Yc.3645T>C (p.Leu1215=)
n.3657T>C
c.3411T>C (p.Leu1137=)
c.3660T>C (p.Leu1220=)
Yg.12790490T>GCA519860041USP9Yc.3645T>G (p.Leu1215=)
n.3657T>G
c.3411T>G (p.Leu1137=)
c.3660T>G (p.Leu1220=)
Yg.12790491A>CCA519860052USP9Yc.3646A>C (p.Arg1216=)
n.3658A>C
c.3412A>C (p.Arg1138=)
c.3661A>C (p.Arg1221=)
Yg.12790491A>GCA414983949USP9Yc.3646A>G (p.Arg1216Gly)
n.3658A>G
c.3412A>G (p.Arg1138Gly)
c.3661A>G (p.Arg1221Gly)
Yg.12790491A>TCA414983951USP9Yc.3646A>T (p.Arg1216Ter)
n.3658A>T
c.3412A>T (p.Arg1138Ter)
c.3661A>T (p.Arg1221Ter)
Yg.12790492_12790493delCA2579747870USP9Yc.3647_3648del (p.Arg1216LysfsTer2)
n.3659_3660del
c.3413_3414del (p.Arg1138LysfsTer2)
c.3662_3663del (p.Arg1221LysfsTer2)
Yg.12790492G>ACA414983954USP9Yc.3647G>A (p.Arg1216Lys)
n.3659G>A
c.3413G>A (p.Arg1138Lys)
c.3662G>A (p.Arg1221Lys)
Yg.12790492G>CCA414983958USP9Yc.3647G>C (p.Arg1216Thr)
n.3659G>C
c.3413G>C (p.Arg1138Thr)
c.3662G>C (p.Arg1221Thr)
Yg.12790492G>TCA414983963USP9Yc.3647G>T (p.Arg1216Ile)
n.3659G>T
c.3413G>T (p.Arg1138Ile)
c.3662G>T (p.Arg1221Ile)
Yg.12790493A>CCA414983967USP9Yc.3648A>C (p.Arg1216Ser)
n.3660A>C
c.3414A>C (p.Arg1138Ser)
c.3663A>C (p.Arg1221Ser)
Yg.12790493A>GCA519860080USP9Yc.3648A>G (p.Arg1216=)
n.3660A>G
c.3414A>G (p.Arg1138=)
c.3663A>G (p.Arg1221=)
Yg.12790493A>TCA414983969USP9Yc.3648A>T (p.Arg1216Ser)
n.3660A>T
c.3414A>T (p.Arg1138Ser)
c.3663A>T (p.Arg1221Ser)
Yg.12790494A>CCA414983973USP9Yc.3649A>C (p.Asn1217His)
n.3661A>C
c.3415A>C (p.Asn1139His)
c.3664A>C (p.Asn1222His)
Yg.12790494A>GCA414983976USP9Yc.3649A>G (p.Asn1217Asp)
n.3661A>G
c.3415A>G (p.Asn1139Asp)
c.3664A>G (p.Asn1222Asp)
Yg.12790494A>TCA414983979USP9Yc.3649A>T (p.Asn1217Tyr)
n.3661A>T
c.3415A>T (p.Asn1139Tyr)
c.3664A>T (p.Asn1222Tyr)
Yg.12790495A>CCA414983983USP9Yc.3650A>C (p.Asn1217Thr)
n.3662A>C
c.3416A>C (p.Asn1139Thr)
c.3665A>C (p.Asn1222Thr)
Yg.12790495A>GCA414983986USP9Yc.3650A>G (p.Asn1217Ser)
n.3662A>G
c.3416A>G (p.Asn1139Ser)
c.3665A>G (p.Asn1222Ser)
Yg.12790495A>TCA414983989USP9Yc.3650A>T (p.Asn1217Ile)
n.3662A>T
c.3416A>T (p.Asn1139Ile)
c.3665A>T (p.Asn1222Ile)
Yg.12790496T>ACA414983995USP9Yc.3651T>A (p.Asn1217Lys)
n.3663T>A
c.3417T>A (p.Asn1139Lys)
c.3666T>A (p.Asn1222Lys)
Yg.12790496T>CCA519860147USP9Yc.3651T>C (p.Asn1217=)
n.3663T>C
c.3417T>C (p.Asn1139=)
c.3666T>C (p.Asn1222=)
Yg.12790496T>GCA414983992USP9Yc.3651T>G (p.Asn1217Lys)
n.3663T>G
c.3417T>G (p.Asn1139Lys)
c.3666T>G (p.Asn1222Lys)
Yg.12790497G>ACA414984000USP9Yc.3652G>A (p.Glu1218Lys)
n.3664G>A
c.3418G>A (p.Glu1140Lys)
c.3667G>A (p.Glu1223Lys)
Yg.12790497G>CCA414984004USP9Yc.3652G>C (p.Glu1218Gln)
n.3664G>C
c.3418G>C (p.Glu1140Gln)
c.3667G>C (p.Glu1223Gln)
Yg.12790497G>TCA414984010USP9Yc.3652G>T (p.Glu1218Ter)
n.3664G>T
c.3418G>T (p.Glu1140Ter)
c.3667G>T (p.Glu1223Ter)
Yg.12790498A>CCA414984013USP9Yc.3653A>C (p.Glu1218Ala)
n.3665A>C
c.3419A>C (p.Glu1140Ala)
c.3668A>C (p.Glu1223Ala)
Yg.12790498A>GCA414984016USP9Yc.3653A>G (p.Glu1218Gly)
n.3665A>G
c.3419A>G (p.Glu1140Gly)
c.3668A>G (p.Glu1223Gly)
Yg.12790498A>TCA414984019USP9Yc.3653A>T (p.Glu1218Val)
n.3665A>T
c.3419A>T (p.Glu1140Val)
c.3668A>T (p.Glu1223Val)
Yg.12790499G>ACA519860200USP9Yc.3654G>A (p.Glu1218=)
n.3666G>A
c.3420G>A (p.Glu1140=)
c.3669G>A (p.Glu1223=)
Yg.12790499G>CCA414984022USP9Yc.3654G>C (p.Glu1218Asp)
n.3666G>C
c.3420G>C (p.Glu1140Asp)
c.3669G>C (p.Glu1223Asp)
Yg.12790499G>TCA414984025USP9Yc.3654G>T (p.Glu1218Asp)
n.3666G>T
c.3420G>T (p.Glu1140Asp)
c.3669G>T (p.Glu1223Asp)
Yg.12790500T>ACA414984029USP9Yc.3655T>A (p.Ser1219Thr)
n.3667T>A
c.3421T>A (p.Ser1141Thr)
c.3670T>A (p.Ser1224Thr)
Yg.12790500T>CCA414984032USP9Yc.3655T>C (p.Ser1219Pro)
n.3667T>C
c.3421T>C (p.Ser1141Pro)
c.3670T>C (p.Ser1224Pro)
dbSNP gnomAD v3 gnomAD v4
Yg.12790500T>GCA414984035USP9Yc.3655T>G (p.Ser1219Ala)
n.3667T>G
c.3421T>G (p.Ser1141Ala)
c.3670T>G (p.Ser1224Ala)
Yg.12790500T=CA2470558131USP9Yc.3655T= (p.Ser1219=)
n.3667T=
c.3421T= (p.Ser1141=)
c.3670T= (p.Ser1224=)
Yg.12790501C>ACA414984041USP9Yc.3656C>A (p.Ser1219Tyr)
n.3668C>A
c.3422C>A (p.Ser1141Tyr)
c.3671C>A (p.Ser1224Tyr)
Yg.12790501C>GCA414984040USP9Yc.3656C>G (p.Ser1219Cys)
n.3668C>G
c.3422C>G (p.Ser1141Cys)
c.3671C>G (p.Ser1224Cys)
Yg.12790501C>TCA414984039USP9Yc.3656C>T (p.Ser1219Phe)
n.3668C>T
c.3422C>T (p.Ser1141Phe)
c.3671C>T (p.Ser1224Phe)
Yg.12790502C>ACA519860235USP9Yc.3657C>A (p.Ser1219=)
n.3669C>A
c.3423C>A (p.Ser1141=)
c.3672C>A (p.Ser1224=)
Yg.12790502C=CA2470558132USP9Yc.3657C= (p.Ser1219=)
n.3669C=
c.3423C= (p.Ser1141=)
c.3672C= (p.Ser1224=)
Yg.12790502C>GCA519860236USP9Yc.3657C>G (p.Ser1219=)
n.3669C>G
c.3423C>G (p.Ser1141=)
c.3672C>G (p.Ser1224=)
Yg.12790502C>TCA519860237USP9Yc.3657C>T (p.Ser1219=)
n.3669C>T
c.3423C>T (p.Ser1141=)
c.3672C>T (p.Ser1224=)
dbSNP gnomAD v2
Yg.12790503A>CCA414984042USP9Yc.3658A>C (p.Ile1220Leu)
n.3670A>C
c.3424A>C (p.Ile1142Leu)
c.3673A>C (p.Ile1225Leu)
Yg.12790503A>GCA414984043USP9Yc.3658A>G (p.Ile1220Val)
n.3670A>G
c.3424A>G (p.Ile1142Val)
c.3673A>G (p.Ile1225Val)
Yg.12790503A>TCA414984044USP9Yc.3658A>T (p.Ile1220Leu)
n.3670A>T
c.3424A>T (p.Ile1142Leu)
c.3673A>T (p.Ile1225Leu)
Yg.12790504T>ACA414984047USP9Yc.3659T>A (p.Ile1220Lys)
n.3671T>A
c.3425T>A (p.Ile1142Lys)
c.3674T>A (p.Ile1225Lys)
Yg.12790504T>CCA414984048USP9Yc.3659T>C (p.Ile1220Thr)
n.3671T>C
c.3425T>C (p.Ile1142Thr)
c.3674T>C (p.Ile1225Thr)
Yg.12790504T>GCA414984051USP9Yc.3659T>G (p.Ile1220Arg)
n.3671T>G
c.3425T>G (p.Ile1142Arg)
c.3674T>G (p.Ile1225Arg)
Yg.12790505A>CCA519860259USP9Yc.3660A>C (p.Ile1220=)
n.3672A>C
c.3426A>C (p.Ile1142=)
c.3675A>C (p.Ile1225=)
Yg.12790505A>GCA414984053USP9Yc.3660A>G (p.Ile1220Met)
n.3672A>G
c.3426A>G (p.Ile1142Met)
c.3675A>G (p.Ile1225Met)
Yg.12790505A>TCA519860272USP9Yc.3660A>T (p.Ile1220=)
n.3672A>T
c.3426A>T (p.Ile1142=)
c.3675A>T (p.Ile1225=)
Yg.12790506C>ACA414984056USP9Yc.3661C>A (p.Leu1221Ile)
n.3673C>A
c.3427C>A (p.Leu1143Ile)
c.3676C>A (p.Leu1226Ile)
Yg.12790506C>GCA414984058USP9Yc.3661C>G (p.Leu1221Val)
n.3673C>G
c.3427C>G (p.Leu1143Val)
c.3676C>G (p.Leu1226Val)
Yg.12790506C>TCA414984064USP9Yc.3661C>T (p.Leu1221Phe)
n.3673C>T
c.3427C>T (p.Leu1143Phe)
c.3676C>T (p.Leu1226Phe)
Yg.12790507T>ACA414984072USP9Yc.3662T>A (p.Leu1221His)
n.3674T>A
c.3428T>A (p.Leu1143His)
c.3677T>A (p.Leu1226His)
Yg.12790507T>CCA414984068USP9Yc.3662T>C (p.Leu1221Pro)
n.3674T>C
c.3428T>C (p.Leu1143Pro)
c.3677T>C (p.Leu1226Pro)
Yg.12790507T>GCA414984065USP9Yc.3662T>G (p.Leu1221Arg)
n.3674T>G
c.3428T>G (p.Leu1143Arg)
c.3677T>G (p.Leu1226Arg)
COSMIC
Yg.12790508T>ACA519860303USP9Yc.3663T>A (p.Leu1221=)
n.3675T>A
c.3429T>A (p.Leu1143=)
c.3678T>A (p.Leu1226=)
Yg.12790508T>CCA519860313USP9Yc.3663T>C (p.Leu1221=)
n.3675T>C
c.3429T>C (p.Leu1143=)
c.3678T>C (p.Leu1226=)
Yg.12790508T>GCA519860317USP9Yc.3663T>G (p.Leu1221=)
n.3675T>G
c.3429T>G (p.Leu1143=)
c.3678T>G (p.Leu1226=)
Yg.12790509C>ACA414984077USP9Yc.3664C>A (p.Leu1222Ile)
n.3676C>A
c.3430C>A (p.Leu1144Ile)
c.3679C>A (p.Leu1227Ile)
Yg.12790509C>GCA414984080USP9Yc.3664C>G (p.Leu1222Val)
n.3676C>G
c.3430C>G (p.Leu1144Val)
c.3679C>G (p.Leu1227Val)
Yg.12790509C>TCA414984084USP9Yc.3664C>T (p.Leu1222Phe)
n.3676C>T
c.3430C>T (p.Leu1144Phe)
c.3679C>T (p.Leu1227Phe)
Yg.12790510T>ACA414984087USP9Yc.3665T>A (p.Leu1222His)
n.3677T>A
c.3431T>A (p.Leu1144His)
c.3680T>A (p.Leu1227His)
Yg.12790510T>CCA414984089USP9Yc.3665T>C (p.Leu1222Pro)
n.3677T>C
c.3431T>C (p.Leu1144Pro)
c.3680T>C (p.Leu1227Pro)
Yg.12790510T>GCA414984091USP9Yc.3665T>G (p.Leu1222Arg)
n.3677T>G
c.3431T>G (p.Leu1144Arg)
c.3680T>G (p.Leu1227Arg)
Yg.12790511T>ACA519860361USP9Yc.3666T>A (p.Leu1222=)
n.3678T>A
c.3432T>A (p.Leu1144=)
c.3681T>A (p.Leu1227=)
Yg.12790511T>CCA519860357USP9Yc.3666T>C (p.Leu1222=)
n.3678T>C
c.3432T>C (p.Leu1144=)
c.3681T>C (p.Leu1227=)
Yg.12790511T>GCA519860353USP9Yc.3666T>G (p.Leu1222=)
n.3678T>G
c.3432T>G (p.Leu1144=)
c.3681T>G (p.Leu1227=)
Yg.12790512G>ACA414984098USP9Yc.3667G>A (p.Ala1223Thr)
n.3679G>A
c.3433G>A (p.Ala1145Thr)
c.3682G>A (p.Ala1228Thr)
Yg.12790512G>CCA414984100USP9Yc.3667G>C (p.Ala1223Pro)
n.3679G>C
c.3433G>C (p.Ala1145Pro)
c.3682G>C (p.Ala1228Pro)
Yg.12790512G>TCA414984102USP9Yc.3667G>T (p.Ala1223Ser)
n.3679G>T
c.3433G>T (p.Ala1145Ser)
c.3682G>T (p.Ala1228Ser)
Yg.12790513C>ACA414984105USP9Yc.3668C>A (p.Ala1223Asp)
n.3680C>A
c.3434C>A (p.Ala1145Asp)
c.3683C>A (p.Ala1228Asp)
Yg.12790513C>GCA414984107USP9Yc.3668C>G (p.Ala1223Gly)
n.3680C>G
c.3434C>G (p.Ala1145Gly)
c.3683C>G (p.Ala1228Gly)
Yg.12790513C>TCA414984110USP9Yc.3668C>T (p.Ala1223Val)
n.3680C>T
c.3434C>T (p.Ala1145Val)
c.3683C>T (p.Ala1228Val)
Yg.12790514T>ACA519860435USP9Yc.3669T>A (p.Ala1223=)
n.3681T>A
c.3435T>A (p.Ala1145=)
c.3684T>A (p.Ala1228=)
Yg.12790514T>CCA519860438USP9Yc.3669T>C (p.Ala1223=)
n.3681T>C
c.3435T>C (p.Ala1145=)
c.3684T>C (p.Ala1228=)
Yg.12790514T>GCA519860442USP9Yc.3669T>G (p.Ala1223=)
n.3681T>G
c.3435T>G (p.Ala1145=)
c.3684T>G (p.Ala1228=)
Yg.12790515C>ACA414984117USP9Yc.3670C>A (p.Gln1224Lys)
n.3682C>A
c.3436C>A (p.Gln1146Lys)
c.3685C>A (p.Gln1229Lys)
Yg.12790515C>GCA414984120USP9Yc.3670C>G (p.Gln1224Glu)
n.3682C>G
c.3436C>G (p.Gln1146Glu)
c.3685C>G (p.Gln1229Glu)
Yg.12790515C>TCA414984114USP9Yc.3670C>T (p.Gln1224Ter)
n.3682C>T
c.3436C>T (p.Gln1146Ter)
c.3685C>T (p.Gln1229Ter)
Yg.12790516A>CCA414984127USP9Yc.3671A>C (p.Gln1224Pro)
n.3683A>C
c.3437A>C (p.Gln1146Pro)
c.3686A>C (p.Gln1229Pro)
Yg.12790516A>GCA414984123USP9Yc.3671A>G (p.Gln1224Arg)
n.3683A>G
c.3437A>G (p.Gln1146Arg)
c.3686A>G (p.Gln1229Arg)
gnomAD v3 gnomAD v4
Yg.12790516A>TCA414984138USP9Yc.3671A>T (p.Gln1224Leu)
n.3683A>T
c.3437A>T (p.Gln1146Leu)
c.3686A>T (p.Gln1229Leu)
Yg.12790517G>ACA519860464USP9Yc.3672G>A (p.Gln1224=)
n.3684G>A
c.3438G>A (p.Gln1146=)
c.3687G>A (p.Gln1229=)
Yg.12790517G>CCA414984140USP9Yc.3672G>C (p.Gln1224His)
n.3684G>C
c.3438G>C (p.Gln1146His)
c.3687G>C (p.Gln1229His)
Yg.12790517G>TCA414984144USP9Yc.3672G>T (p.Gln1224His)
n.3684G>T
c.3438G>T (p.Gln1146His)
c.3687G>T (p.Gln1229His)
Yg.12790518G>ACA337720147USP9Yc.3673G>A (p.Glu1225Lys)
n.3685G>A
c.3439G>A (p.Glu1147Lys)
c.3688G>A (p.Glu1230Lys)
dbSNP
Yg.12790518G>CCA414984152USP9Yc.3673G>C (p.Glu1225Gln)
n.3685G>C
c.3439G>C (p.Glu1147Gln)
c.3688G>C (p.Glu1230Gln)
Yg.12790518G=CA2470558133USP9Yc.3673G= (p.Glu1225=)
n.3685G=
c.3439G= (p.Glu1147=)
c.3688G= (p.Glu1230=)
Yg.12790518G>TCA414984155USP9Yc.3673G>T (p.Glu1225Ter)
n.3685G>T
c.3439G>T (p.Glu1147Ter)
c.3688G>T (p.Glu1230Ter)
Yg.12790519A>CCA414984161USP9Yc.3674A>C (p.Glu1225Ala)
n.3686A>C
c.3440A>C (p.Glu1147Ala)
c.3689A>C (p.Glu1230Ala)
Yg.12790519A>GCA414984163USP9Yc.3674A>G (p.Glu1225Gly)
n.3686A>G
c.3440A>G (p.Glu1147Gly)
c.3689A>G (p.Glu1230Gly)
Yg.12790519A>TCA414984165USP9Yc.3674A>T (p.Glu1225Val)
n.3686A>T
c.3440A>T (p.Glu1147Val)
c.3689A>T (p.Glu1230Val)
Yg.12790520A>CCA414984169USP9Yc.3675A>C (p.Glu1225Asp)
n.3687A>C
c.3441A>C (p.Glu1147Asp)
c.3690A>C (p.Glu1230Asp)
Yg.12790520A>GCA519860495USP9Yc.3675A>G (p.Glu1225=)
n.3687A>G
c.3441A>G (p.Glu1147=)
c.3690A>G (p.Glu1230=)
Yg.12790520A>TCA414984173USP9Yc.3675A>T (p.Glu1225Asp)
n.3687A>T
c.3441A>T (p.Glu1147Asp)
c.3690A>T (p.Glu1230Asp)
Yg.12790521A>CCA414984175USP9Yc.3676A>C (p.Ile1226Leu)
n.3688A>C
c.3442A>C (p.Ile1148Leu)
c.3691A>C (p.Ile1231Leu)
Yg.12790521A>GCA414984178USP9Yc.3676A>G (p.Ile1226Val)
n.3688A>G
c.3442A>G (p.Ile1148Val)
c.3691A>G (p.Ile1231Val)
Yg.12790521A>TCA414984181USP9Yc.3676A>T (p.Ile1226Leu)
n.3688A>T
c.3442A>T (p.Ile1148Leu)
c.3691A>T (p.Ile1231Leu)
Yg.12790522T>ACA414984187USP9Yc.3677T>A (p.Ile1226Lys)
n.3689T>A
c.3443T>A (p.Ile1148Lys)
c.3692T>A (p.Ile1231Lys)
Yg.12790522T>CCA414984184USP9Yc.3677T>C (p.Ile1226Thr)
n.3689T>C
c.3443T>C (p.Ile1148Thr)
c.3692T>C (p.Ile1231Thr)
Yg.12790522T>GCA414984185USP9Yc.3677T>G (p.Ile1226Arg)
n.3689T>G
c.3443T>G (p.Ile1148Arg)
c.3692T>G (p.Ile1231Arg)
Yg.12790523A=CA2470558134USP9Yc.3678A= (p.Ile1226=)
n.3690A=
c.3444A= (p.Ile1148=)
c.3693A= (p.Ile1231=)
Yg.12790523A>CCA519860530USP9Yc.3678A>C (p.Ile1226=)
n.3690A>C
c.3444A>C (p.Ile1148=)
c.3693A>C (p.Ile1231=)
Yg.12790523A>GCA10573268USP9Yc.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
Yg.12790523A>TCA519860566USP9Yc.3678A>T (p.Ile1226=)
n.3690A>T
c.3444A>T (p.Ile1148=)
c.3693A>T (p.Ile1231=)
Yg.12790524T>ACA414984189USP9Yc.3679T>A (p.Ser1227Thr)
n.3691T>A
c.3445T>A (p.Ser1149Thr)
c.3694T>A (p.Ser1232Thr)
Yg.12790524T>CCA414984191USP9Yc.3679T>C (p.Ser1227Pro)
n.3691T>C
c.3445T>C (p.Ser1149Pro)
c.3694T>C (p.Ser1232Pro)
Yg.12790524T>GCA414984193USP9Yc.3679T>G (p.Ser1227Ala)
n.3691T>G
c.3445T>G (p.Ser1149Ala)
c.3694T>G (p.Ser1232Ala)
Yg.12790525C>ACA414984197USP9Yc.3680C>A (p.Ser1227Tyr)
n.3692C>A
c.3446C>A (p.Ser1149Tyr)
c.3695C>A (p.Ser1232Tyr)
Yg.12790525C>GCA414984201USP9Yc.3680C>G (p.Ser1227Cys)
n.3692C>G
c.3446C>G (p.Ser1149Cys)
c.3695C>G (p.Ser1232Cys)
Yg.12790525C>TCA414984203USP9Yc.3680C>T (p.Ser1227Phe)
n.3692C>T
c.3446C>T (p.Ser1149Phe)
c.3695C>T (p.Ser1232Phe)
Yg.12790526T>ACA519860586USP9Yc.3681T>A (p.Ser1227=)
n.3693T>A
c.3447T>A (p.Ser1149=)
c.3696T>A (p.Ser1232=)
Yg.12790526T>CCA519860587USP9Yc.3681T>C (p.Ser1227=)
n.3693T>C
c.3447T>C (p.Ser1149=)
c.3696T>C (p.Ser1232=)
Yg.12790526T>GCA519860588USP9Yc.3681T>G (p.Ser1227=)
n.3693T>G
c.3447T>G (p.Ser1149=)
c.3696T>G (p.Ser1232=)
Yg.12790527A>CCA414984207USP9Yc.3682A>C (p.Asn1228His)
n.3694A>C
c.3448A>C (p.Asn1150His)
c.3697A>C (p.Asn1233His)
Yg.12790527A>GCA414984209USP9Yc.3682A>G (p.Asn1228Asp)
n.3694A>G
c.3448A>G (p.Asn1150Asp)
c.3697A>G (p.Asn1233Asp)
Yg.12790527A>TCA414984211USP9Yc.3682A>T (p.Asn1228Tyr)
n.3694A>T
c.3448A>T (p.Asn1150Tyr)
c.3697A>T (p.Asn1233Tyr)
Yg.12790528A>CCA414984220USP9Yc.3683A>C (p.Asn1228Thr)
n.3695A>C
c.3449A>C (p.Asn1150Thr)
c.3698A>C (p.Asn1233Thr)
Yg.12790528A>GCA414984217USP9Yc.3683A>G (p.Asn1228Ser)
n.3695A>G
c.3449A>G (p.Asn1150Ser)
c.3698A>G (p.Asn1233Ser)
Yg.12790528A>TCA414984214USP9Yc.3683A>T (p.Asn1228Ile)
n.3695A>T
c.3449A>T (p.Asn1150Ile)
c.3698A>T (p.Asn1233Ile)
Yg.12790529T>ACA414984227USP9Yc.3684T>A (p.Asn1228Lys)
n.3696T>A
c.3450T>A (p.Asn1150Lys)
c.3699T>A (p.Asn1233Lys)
Yg.12790529T>CCA519860621USP9Yc.3684T>C (p.Asn1228=)
n.3696T>C
c.3450T>C (p.Asn1150=)
c.3699T>C (p.Asn1233=)
Yg.12790529T>GCA414984225USP9Yc.3684T>G (p.Asn1228Lys)
n.3696T>G
c.3450T>G (p.Asn1150Lys)
c.3699T>G (p.Asn1233Lys)
Yg.12790530G>ACA414984230USP9Yc.3685G>A (p.Glu1229Lys)
n.3697G>A
c.3451G>A (p.Glu1151Lys)
c.3700G>A (p.Glu1234Lys)
Yg.12790530G>CCA414984233USP9Yc.3685G>C (p.Glu1229Gln)
n.3697G>C
c.3451G>C (p.Glu1151Gln)
c.3700G>C (p.Glu1234Gln)
Yg.12790530G>TCA414984240USP9Yc.3685G>T (p.Glu1229Ter)
n.3697G>T
c.3451G>T (p.Glu1151Ter)
c.3700G>T (p.Glu1234Ter)
Yg.12790531A>CCA414984251USP9Yc.3686A>C (p.Glu1229Ala)
n.3698A>C
c.3452A>C (p.Glu1151Ala)
c.3701A>C (p.Glu1234Ala)
Yg.12790531A>GCA414984253USP9Yc.3686A>G (p.Glu1229Gly)
n.3698A>G
c.3452A>G (p.Glu1151Gly)
c.3701A>G (p.Glu1234Gly)
Yg.12790531A>TCA414984255USP9Yc.3686A>T (p.Glu1229Val)
n.3698A>T
c.3452A>T (p.Glu1151Val)
c.3701A>T (p.Glu1234Val)
Yg.12790532G>ACA519860637USP9Yc.3687G>A (p.Glu1229=)
n.3699G>A
c.3453G>A (p.Glu1151=)
c.3702G>A (p.Glu1234=)
gnomAD v3 gnomAD v4
Yg.12790532G>CCA337720148USP9Yc.3687G>C (p.Glu1229Asp)
n.3699G>C
c.3453G>C (p.Glu1151Asp)
c.3702G>C (p.Glu1234Asp)
dbSNP gnomAD v2 gnomAD v3
Yg.12790532G=CA2470558135USP9Yc.3687G= (p.Glu1229=)
n.3699G=
c.3453G= (p.Glu1151=)
c.3702G= (p.Glu1234=)
Yg.12790532G>TCA414984258USP9Yc.3687G>T (p.Glu1229Asp)
n.3699G>T
c.3453G>T (p.Glu1151Asp)
c.3702G>T (p.Glu1234Asp)
Yg.12790533G>ACA414984263USP9Yc.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)
Yg.12790533G>CCA414984266USP9Yc.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)
Yg.12790533G>TCA414984267USP9Yc.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)
Yg.12790535_12790538delCA2766241543USP9Yc.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)
Yg.12790534T>ACA414984278USP9Yc.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)
Yg.12790534T>CCA414984270USP9Yc.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)
Yg.12790534T>GCA414984276USP9Yc.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)
Yg.12790537G>CCA645286572USP9Yc.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
Yg.12790537G=CA2470558136USP9Yc.3687+5G= (n.3687+5G=)
n.3699+5G=
c.3453+5G= (n.3453+5G=)
c.3702+5G= (n.3702+5G=)
Yg.12790540T>CCA2579747871USP9Yc.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)
Yg.12790540T>GCA10573269USP9Yc.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
Yg.12790540T=CA2470558137USP9Yc.3687+8T= (n.3687+8T=)
n.3699+8T=
c.3453+8T= (n.3453+8T=)
c.3702+8T= (n.3702+8T=)
Yg.12790541G>ACA2766241544USP9Yc.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)
Yg.12790541G>TCA2515514314USP9Yc.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)
Yg.12790548_12790555delCA2579747872USP9Yc.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)

Number of alleles fetched