Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12790417T>ACA414983452USP9Yc.3572T>A (p.Val1191Asp)
n.3584T>A
c.3338T>A (p.Val1113Asp)
c.3587T>A (p.Val1196Asp)
Yg.12790417T>CCA414983453USP9Yc.3572T>C (p.Val1191Ala)
n.3584T>C
c.3338T>C (p.Val1113Ala)
c.3587T>C (p.Val1196Ala)
Yg.12790417T>GCA414983454USP9Yc.3572T>G (p.Val1191Gly)
n.3584T>G
c.3338T>G (p.Val1113Gly)
c.3587T>G (p.Val1196Gly)
Yg.12790418T>ACA519859267USP9Yc.3573T>A (p.Val1191=)
n.3585T>A
c.3339T>A (p.Val1113=)
c.3588T>A (p.Val1196=)
Yg.12790418T>CCA519859271USP9Yc.3573T>C (p.Val1191=)
n.3585T>C
c.3339T>C (p.Val1113=)
c.3588T>C (p.Val1196=)
Yg.12790418T>GCA519859269USP9Yc.3573T>G (p.Val1191=)
n.3585T>G
c.3339T>G (p.Val1113=)
c.3588T>G (p.Val1196=)
Yg.12790419A>CCA414983455USP9Yc.3574A>C (p.Thr1192Pro)
n.3586A>C
c.3340A>C (p.Thr1114Pro)
c.3589A>C (p.Thr1197Pro)
Yg.12790419A>GCA414983458USP9Yc.3574A>G (p.Thr1192Ala)
n.3586A>G
c.3340A>G (p.Thr1114Ala)
c.3589A>G (p.Thr1197Ala)
Yg.12790419A>TCA414983459USP9Yc.3574A>T (p.Thr1192Ser)
n.3586A>T
c.3340A>T (p.Thr1114Ser)
c.3589A>T (p.Thr1197Ser)
Yg.12790420C>ACA414983462USP9Yc.3575C>A (p.Thr1192Asn)
n.3587C>A
c.3341C>A (p.Thr1114Asn)
c.3590C>A (p.Thr1197Asn)
Yg.12790420C=CA2470558124USP9Yc.3575C= (p.Thr1192=)
n.3587C=
c.3341C= (p.Thr1114=)
c.3590C= (p.Thr1197=)
Yg.12790420C>GCA414983464USP9Yc.3575C>G (p.Thr1192Ser)
n.3587C>G
c.3341C>G (p.Thr1114Ser)
c.3590C>G (p.Thr1197Ser)
Yg.12790420C>TCA414983467USP9Yc.3575C>T (p.Thr1192Ile)
n.3587C>T
c.3341C>T (p.Thr1114Ile)
c.3590C>T (p.Thr1197Ile)
dbSNP gnomAD v2
Yg.12790421T>ACA519859288USP9Yc.3576T>A (p.Thr1192=)
n.3588T>A
c.3342T>A (p.Thr1114=)
c.3591T>A (p.Thr1197=)
Yg.12790421T>CCA519859292USP9Yc.3576T>C (p.Thr1192=)
n.3588T>C
c.3342T>C (p.Thr1114=)
c.3591T>C (p.Thr1197=)
Yg.12790421T>GCA519859293USP9Yc.3576T>G (p.Thr1192=)
n.3588T>G
c.3342T>G (p.Thr1114=)
c.3591T>G (p.Thr1197=)
Yg.12790422C>ACA414983470USP9Yc.3577C>A (p.His1193Asn)
n.3589C>A
c.3343C>A (p.His1115Asn)
c.3592C>A (p.His1198Asn)
Yg.12790422C>GCA414983469USP9Yc.3577C>G (p.His1193Asp)
n.3589C>G
c.3343C>G (p.His1115Asp)
c.3592C>G (p.His1198Asp)
Yg.12790422C>TCA414983468USP9Yc.3577C>T (p.His1193Tyr)
n.3589C>T
c.3343C>T (p.His1115Tyr)
c.3592C>T (p.His1198Tyr)
Yg.12790423A>CCA414983471USP9Yc.3578A>C (p.His1193Pro)
n.3590A>C
c.3344A>C (p.His1115Pro)
c.3593A>C (p.His1198Pro)
Yg.12790423A>GCA414983473USP9Yc.3578A>G (p.His1193Arg)
n.3590A>G
c.3344A>G (p.His1115Arg)
c.3593A>G (p.His1198Arg)
Yg.12790423A>TCA414983475USP9Yc.3578A>T (p.His1193Leu)
n.3590A>T
c.3344A>T (p.His1115Leu)
c.3593A>T (p.His1198Leu)
Yg.12790424T>ACA414983477USP9Yc.3579T>A (p.His1193Gln)
n.3591T>A
c.3345T>A (p.His1115Gln)
c.3594T>A (p.His1198Gln)
Yg.12790424T>CCA519859327USP9Yc.3579T>C (p.His1193=)
n.3591T>C
c.3345T>C (p.His1115=)
c.3594T>C (p.His1198=)
Yg.12790424T>GCA414983478USP9Yc.3579T>G (p.His1193Gln)
n.3591T>G
c.3345T>G (p.His1115Gln)
c.3594T>G (p.His1198Gln)
Yg.12790425G>ACA414983480USP9Yc.3580G>A (p.Asp1194Asn)
n.3592G>A
c.3346G>A (p.Asp1116Asn)
c.3595G>A (p.Asp1199Asn)
Yg.12790425G>CCA414983482USP9Yc.3580G>C (p.Asp1194His)
n.3592G>C
c.3346G>C (p.Asp1116His)
c.3595G>C (p.Asp1199His)
Yg.12790425G>TCA414983489USP9Yc.3580G>T (p.Asp1194Tyr)
n.3592G>T
c.3346G>T (p.Asp1116Tyr)
c.3595G>T (p.Asp1199Tyr)
Yg.12790426A>CCA414983494USP9Yc.3581A>C (p.Asp1194Ala)
n.3593A>C
c.3347A>C (p.Asp1116Ala)
c.3596A>C (p.Asp1199Ala)
Yg.12790426A>GCA414983499USP9Yc.3581A>G (p.Asp1194Gly)
n.3593A>G
c.3347A>G (p.Asp1116Gly)
c.3596A>G (p.Asp1199Gly)
Yg.12790426A>TCA414983501USP9Yc.3581A>T (p.Asp1194Val)
n.3593A>T
c.3347A>T (p.Asp1116Val)
c.3596A>T (p.Asp1199Val)
Yg.12790427T>ACA414983511USP9Yc.3582T>A (p.Asp1194Glu)
n.3594T>A
c.3348T>A (p.Asp1116Glu)
c.3597T>A (p.Asp1199Glu)
Yg.12790427T>CCA519859388USP9Yc.3582T>C (p.Asp1194=)
n.3594T>C
c.3348T>C (p.Asp1116=)
c.3597T>C (p.Asp1199=)
Yg.12790427T>GCA414983504USP9Yc.3582T>G (p.Asp1194Glu)
n.3594T>G
c.3348T>G (p.Asp1116Glu)
c.3597T>G (p.Asp1199Glu)
Yg.12790428C>ACA414983512USP9Yc.3583C>A (p.Gln1195Lys)
n.3595C>A
c.3349C>A (p.Gln1117Lys)
c.3598C>A (p.Gln1200Lys)
Yg.12790428C>GCA414983513USP9Yc.3583C>G (p.Gln1195Glu)
n.3595C>G
c.3349C>G (p.Gln1117Glu)
c.3598C>G (p.Gln1200Glu)
Yg.12790428C>TCA414983514USP9Yc.3583C>T (p.Gln1195Ter)
n.3595C>T
c.3349C>T (p.Gln1117Ter)
c.3598C>T (p.Gln1200Ter)
Yg.12790429A>CCA414983517USP9Yc.3584A>C (p.Gln1195Pro)
n.3596A>C
c.3350A>C (p.Gln1117Pro)
c.3599A>C (p.Gln1200Pro)
Yg.12790429A>GCA414983522USP9Yc.3584A>G (p.Gln1195Arg)
n.3596A>G
c.3350A>G (p.Gln1117Arg)
c.3599A>G (p.Gln1200Arg)
Yg.12790429A>TCA414983525USP9Yc.3584A>T (p.Gln1195Leu)
n.3596A>T
c.3350A>T (p.Gln1117Leu)
c.3599A>T (p.Gln1200Leu)
Yg.12790430A>CCA414983530USP9Yc.3585A>C (p.Gln1195His)
n.3597A>C
c.3351A>C (p.Gln1117His)
c.3600A>C (p.Gln1200His)
Yg.12790430A>GCA519859409USP9Yc.3585A>G (p.Gln1195=)
n.3597A>G
c.3351A>G (p.Gln1117=)
c.3600A>G (p.Gln1200=)
Yg.12790430A>TCA414983532USP9Yc.3585A>T (p.Gln1195His)
n.3597A>T
c.3351A>T (p.Gln1117His)
c.3600A>T (p.Gln1200His)
Yg.12790431G>ACA414983535USP9Yc.3586G>A (p.Ala1196Thr)
n.3598G>A
c.3352G>A (p.Ala1118Thr)
c.3601G>A (p.Ala1201Thr)
Yg.12790431G>CCA414983538USP9Yc.3586G>C (p.Ala1196Pro)
n.3598G>C
c.3352G>C (p.Ala1118Pro)
c.3601G>C (p.Ala1201Pro)
Yg.12790431G>TCA414983541USP9Yc.3586G>T (p.Ala1196Ser)
n.3598G>T
c.3352G>T (p.Ala1118Ser)
c.3601G>T (p.Ala1201Ser)
Yg.12790432C>ACA414983557USP9Yc.3587C>A (p.Ala1196Glu)
n.3599C>A
c.3353C>A (p.Ala1118Glu)
c.3602C>A (p.Ala1201Glu)
Yg.12790432C>GCA414983554USP9Yc.3587C>G (p.Ala1196Gly)
n.3599C>G
c.3353C>G (p.Ala1118Gly)
c.3602C>G (p.Ala1201Gly)
Yg.12790432C>TCA414983552USP9Yc.3587C>T (p.Ala1196Val)
n.3599C>T
c.3353C>T (p.Ala1118Val)
c.3602C>T (p.Ala1201Val)
Yg.12790433A>CCA519859444USP9Yc.3588A>C (p.Ala1196=)
n.3600A>C
c.3354A>C (p.Ala1118=)
c.3603A>C (p.Ala1201=)
Yg.12790433A>GCA519859447USP9Yc.3588A>G (p.Ala1196=)
n.3600A>G
c.3354A>G (p.Ala1118=)
c.3603A>G (p.Ala1201=)
Yg.12790433A>TCA519859452USP9Yc.3588A>T (p.Ala1196=)
n.3600A>T
c.3354A>T (p.Ala1118=)
c.3603A>T (p.Ala1201=)
Yg.12790434G>ACA414983560USP9Yc.3589G>A (p.Val1197Met)
n.3601G>A
c.3355G>A (p.Val1119Met)
c.3604G>A (p.Val1202Met)
Yg.12790434G>CCA414983563USP9Yc.3589G>C (p.Val1197Leu)
n.3601G>C
c.3355G>C (p.Val1119Leu)
c.3604G>C (p.Val1202Leu)
Yg.12790434G>TCA414983565USP9Yc.3589G>T (p.Val1197Leu)
n.3601G>T
c.3355G>T (p.Val1119Leu)
c.3604G>T (p.Val1202Leu)
Yg.12790435T>ACA414983566USP9Yc.3590T>A (p.Val1197Glu)
n.3602T>A
c.3356T>A (p.Val1119Glu)
c.3605T>A (p.Val1202Glu)
Yg.12790435T>CCA414983569USP9Yc.3590T>C (p.Val1197Ala)
n.3602T>C
c.3356T>C (p.Val1119Ala)
c.3605T>C (p.Val1202Ala)
Yg.12790435T>GCA414983571USP9Yc.3590T>G (p.Val1197Gly)
n.3602T>G
c.3356T>G (p.Val1119Gly)
c.3605T>G (p.Val1202Gly)
Yg.12790436G>ACA519859474USP9Yc.3591G>A (p.Val1197=)
n.3603G>A
c.3357G>A (p.Val1119=)
c.3606G>A (p.Val1202=)
Yg.12790436G>CCA519859477USP9Yc.3591G>C (p.Val1197=)
n.3603G>C
c.3357G>C (p.Val1119=)
c.3606G>C (p.Val1202=)
Yg.12790436G>TCA519859481USP9Yc.3591G>T (p.Val1197=)
n.3603G>T
c.3357G>T (p.Val1119=)
c.3606G>T (p.Val1202=)
Yg.12790437G>ACA414983574USP9Yc.3592G>A (p.Val1198Met)
n.3604G>A
c.3358G>A (p.Val1120Met)
c.3607G>A (p.Val1203Met)
Yg.12790437G>CCA414983575USP9Yc.3592G>C (p.Val1198Leu)
n.3604G>C
c.3358G>C (p.Val1120Leu)
c.3607G>C (p.Val1203Leu)
Yg.12790437G>TCA414983578USP9Yc.3592G>T (p.Val1198Leu)
n.3604G>T
c.3358G>T (p.Val1120Leu)
c.3607G>T (p.Val1203Leu)
Yg.12790438T>ACA414983580USP9Yc.3593T>A (p.Val1198Glu)
n.3605T>A
c.3359T>A (p.Val1120Glu)
c.3608T>A (p.Val1203Glu)
Yg.12790438T>CCA414983581USP9Yc.3593T>C (p.Val1198Ala)
n.3605T>C
c.3359T>C (p.Val1120Ala)
c.3608T>C (p.Val1203Ala)
Yg.12790438T>GCA414983582USP9Yc.3593T>G (p.Val1198Gly)
n.3605T>G
c.3359T>G (p.Val1120Gly)
c.3608T>G (p.Val1203Gly)
Yg.12790439G>ACA519859492USP9Yc.3594G>A (p.Val1198=)
n.3606G>A
c.3360G>A (p.Val1120=)
c.3609G>A (p.Val1203=)
Yg.12790439G>CCA519859502USP9Yc.3594G>C (p.Val1198=)
n.3606G>C
c.3360G>C (p.Val1120=)
c.3609G>C (p.Val1203=)
Yg.12790439G>TCA519859506USP9Yc.3594G>T (p.Val1198=)
n.3606G>T
c.3360G>T (p.Val1120=)
c.3609G>T (p.Val1203=)
Yg.12790440C>ACA414983584USP9Yc.3595C>A (p.Leu1199Ile)
n.3607C>A
c.3361C>A (p.Leu1121Ile)
c.3610C>A (p.Leu1204Ile)
Yg.12790440C>GCA414983586USP9Yc.3595C>G (p.Leu1199Val)
n.3607C>G
c.3361C>G (p.Leu1121Val)
c.3610C>G (p.Leu1204Val)
Yg.12790440C>TCA519859528USP9Yc.3595C>T (p.Leu1199=)
n.3607C>T
c.3361C>T (p.Leu1121=)
c.3610C>T (p.Leu1204=)
Yg.12790441T>ACA414983589USP9Yc.3596T>A (p.Leu1199Gln)
n.3608T>A
c.3362T>A (p.Leu1121Gln)
c.3611T>A (p.Leu1204Gln)
Yg.12790441T>CCA414983594USP9Yc.3596T>C (p.Leu1199Pro)
n.3608T>C
c.3362T>C (p.Leu1121Pro)
c.3611T>C (p.Leu1204Pro)
Yg.12790441T>GCA414983591USP9Yc.3596T>G (p.Leu1199Arg)
n.3608T>G
c.3362T>G (p.Leu1121Arg)
c.3611T>G (p.Leu1204Arg)
Yg.12790442A>CCA519859539USP9Yc.3597A>C (p.Leu1199=)
n.3609A>C
c.3363A>C (p.Leu1121=)
c.3612A>C (p.Leu1204=)
Yg.12790442A>GCA519859543USP9Yc.3597A>G (p.Leu1199=)
n.3609A>G
c.3363A>G (p.Leu1121=)
c.3612A>G (p.Leu1204=)
Yg.12790442A>TCA519859545USP9Yc.3597A>T (p.Leu1199=)
n.3609A>T
c.3363A>T (p.Leu1121=)
c.3612A>T (p.Leu1204=)
Yg.12790443C>ACA414983596USP9Yc.3598C>A (p.Gln1200Lys)
n.3610C>A
c.3364C>A (p.Gln1122Lys)
c.3613C>A (p.Gln1205Lys)
Yg.12790443C>GCA414983598USP9Yc.3598C>G (p.Gln1200Glu)
n.3610C>G
c.3364C>G (p.Gln1122Glu)
c.3613C>G (p.Gln1205Glu)
COSMIC
Yg.12790443C>TCA414983600USP9Yc.3598C>T (p.Gln1200Ter)
n.3610C>T
c.3364C>T (p.Gln1122Ter)
c.3613C>T (p.Gln1205Ter)
Yg.12790444A>CCA414983602USP9Yc.3599A>C (p.Gln1200Pro)
n.3611A>C
c.3365A>C (p.Gln1122Pro)
c.3614A>C (p.Gln1205Pro)
Yg.12790444A>GCA414983603USP9Yc.3599A>G (p.Gln1200Arg)
n.3611A>G
c.3365A>G (p.Gln1122Arg)
c.3614A>G (p.Gln1205Arg)
Yg.12790444A>TCA414983605USP9Yc.3599A>T (p.Gln1200Leu)
n.3611A>T
c.3365A>T (p.Gln1122Leu)
c.3614A>T (p.Gln1205Leu)
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)

Number of alleles fetched