Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436192_32436196delCA2577366305ASXL1c.3480_3484del (p.Met1161Ter)
c.3297_3301del (p.Met1100Ter)
n.5833_5837del
c.1869+1611_1869+1615del (n.1869+1611_1869+1615del)
c.3465_3469del (p.Met1156Ter)
c.3477_3481del (p.Met1160Ter)
c.3450_3454del (p.Met1151Ter)
c.3396_3400del (p.Met1133Ter)
c.2796_2800del (p.Met933Ter)
c.3744_3748del (p.Met1249Ter)
c.3741_3745del (p.Met1248Ter)
c.3660_3664del (p.Met1221Ter)
c.3591_3595del (p.Met1198Ter)
c.3459_3463del (p.Met1154Ter)
c.3327_3331del (p.Met1110Ter)
20g.32436191G>ACA408563145ASXL1c.3479G>A (p.Gly1160Asp)
c.3296G>A (p.Gly1099Asp)
n.5832G>A
c.1869+1610G>A (n.1869+1610G>A)
c.3464G>A (p.Gly1155Asp)
c.3476G>A (p.Gly1159Asp)
c.3449G>A (p.Gly1150Asp)
c.3395G>A (p.Gly1132Asp)
c.2795G>A (p.Gly932Asp)
c.3743G>A (p.Gly1248Asp)
c.3740G>A (p.Gly1247Asp)
c.3659G>A (p.Gly1220Asp)
c.3590G>A (p.Gly1197Asp)
c.3458G>A (p.Gly1153Asp)
c.3326G>A (p.Gly1109Asp)
 dbSNP
20g.32436191G>CCA408563146ASXL1c.3479G>C (p.Gly1160Ala)
c.3296G>C (p.Gly1099Ala)
n.5832G>C
c.1869+1610G>C (n.1869+1610G>C)
c.3464G>C (p.Gly1155Ala)
c.3476G>C (p.Gly1159Ala)
c.3449G>C (p.Gly1150Ala)
c.3395G>C (p.Gly1132Ala)
c.2795G>C (p.Gly932Ala)
c.3743G>C (p.Gly1248Ala)
c.3740G>C (p.Gly1247Ala)
c.3659G>C (p.Gly1220Ala)
c.3590G>C (p.Gly1197Ala)
c.3458G>C (p.Gly1153Ala)
c.3326G>C (p.Gly1109Ala)
 dbSNP
20g.32436191G>TCA408563147ASXL1c.3479G>T (p.Gly1160Val)
c.3296G>T (p.Gly1099Val)
n.5832G>T
c.1869+1610G>T (n.1869+1610G>T)
c.3464G>T (p.Gly1155Val)
c.3476G>T (p.Gly1159Val)
c.3449G>T (p.Gly1150Val)
c.3395G>T (p.Gly1132Val)
c.2795G>T (p.Gly932Val)
c.3743G>T (p.Gly1248Val)
c.3740G>T (p.Gly1247Val)
c.3659G>T (p.Gly1220Val)
c.3590G>T (p.Gly1197Val)
c.3458G>T (p.Gly1153Val)
c.3326G>T (p.Gly1109Val)
20g.32436192C>ACA510467275ASXL1c.3480C>A (p.Gly1160=)
c.3297C>A (p.Gly1099=)
n.5833C>A
c.1869+1611C>A (n.1869+1611C>A)
c.3465C>A (p.Gly1155=)
c.3477C>A (p.Gly1159=)
c.3450C>A (p.Gly1150=)
c.3396C>A (p.Gly1132=)
c.2796C>A (p.Gly932=)
c.3744C>A (p.Gly1248=)
c.3741C>A (p.Gly1247=)
c.3660C>A (p.Gly1220=)
c.3591C>A (p.Gly1197=)
c.3459C>A (p.Gly1153=)
c.3327C>A (p.Gly1109=)
20g.32436192C=CA2360293579ASXL1c.3480C= (p.Gly1160=)
c.3297C= (p.Gly1099=)
n.5833C=
c.1869+1611C= (n.1869+1611C=)
c.3465C= (p.Gly1155=)
c.3477C= (p.Gly1159=)
c.3450C= (p.Gly1150=)
c.3396C= (p.Gly1132=)
c.2796C= (p.Gly932=)
c.3744C= (p.Gly1248=)
c.3741C= (p.Gly1247=)
c.3660C= (p.Gly1220=)
c.3591C= (p.Gly1197=)
c.3459C= (p.Gly1153=)
c.3327C= (p.Gly1109=)
20g.32436192C>GCA510467276ASXL1c.3480C>G (p.Gly1160=)
c.3297C>G (p.Gly1099=)
n.5833C>G
c.1869+1611C>G (n.1869+1611C>G)
c.3465C>G (p.Gly1155=)
c.3477C>G (p.Gly1159=)
c.3450C>G (p.Gly1150=)
c.3396C>G (p.Gly1132=)
c.2796C>G (p.Gly932=)
c.3744C>G (p.Gly1248=)
c.3741C>G (p.Gly1247=)
c.3660C>G (p.Gly1220=)
c.3591C>G (p.Gly1197=)
c.3459C>G (p.Gly1153=)
c.3327C>G (p.Gly1109=)
20g.32436192C>TCA9808836ASXL1c.3480C>T (p.Gly1160=)
c.3297C>T (p.Gly1099=)
n.5833C>T
c.1869+1611C>T (n.1869+1611C>T)
c.3465C>T (p.Gly1155=)
c.3477C>T (p.Gly1159=)
c.3450C>T (p.Gly1150=)
c.3396C>T (p.Gly1132=)
c.2796C>T (p.Gly932=)
c.3744C>T (p.Gly1248=)
c.3741C>T (p.Gly1247=)
c.3660C>T (p.Gly1220=)
c.3591C>T (p.Gly1197=)
c.3459C>T (p.Gly1153=)
c.3327C>T (p.Gly1109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436193A=CA2360293580ASXL1c.3481A= (p.Met1161=)
c.3298A= (p.Met1100=)
n.5834A=
c.1869+1612A= (n.1869+1612A=)
c.3466A= (p.Met1156=)
c.3478A= (p.Met1160=)
c.3451A= (p.Met1151=)
c.3397A= (p.Met1133=)
c.2797A= (p.Met933=)
c.3745A= (p.Met1249=)
c.3742A= (p.Met1248=)
c.3661A= (p.Met1221=)
c.3592A= (p.Met1198=)
c.3460A= (p.Met1154=)
c.3328A= (p.Met1110=)
20g.32436193A>CCA408563148ASXL1c.3481A>C (p.Met1161Leu)
c.3298A>C (p.Met1100Leu)
n.5834A>C
c.1869+1612A>C (n.1869+1612A>C)
c.3466A>C (p.Met1156Leu)
c.3478A>C (p.Met1160Leu)
c.3451A>C (p.Met1151Leu)
c.3397A>C (p.Met1133Leu)
c.2797A>C (p.Met933Leu)
c.3745A>C (p.Met1249Leu)
c.3742A>C (p.Met1248Leu)
c.3661A>C (p.Met1221Leu)
c.3592A>C (p.Met1198Leu)
c.3460A>C (p.Met1154Leu)
c.3328A>C (p.Met1110Leu)
20g.32436193A>GCA408563149ASXL1c.3481A>G (p.Met1161Val)
c.3298A>G (p.Met1100Val)
n.5834A>G
c.1869+1612A>G (n.1869+1612A>G)
c.3466A>G (p.Met1156Val)
c.3478A>G (p.Met1160Val)
c.3451A>G (p.Met1151Val)
c.3397A>G (p.Met1133Val)
c.2797A>G (p.Met933Val)
c.3745A>G (p.Met1249Val)
c.3742A>G (p.Met1248Val)
c.3661A>G (p.Met1221Val)
c.3592A>G (p.Met1198Val)
c.3460A>G (p.Met1154Val)
c.3328A>G (p.Met1110Val)
 dbSNP gnomAD v4
20g.32436193A>TCA408563150ASXL1c.3481A>T (p.Met1161Leu)
c.3298A>T (p.Met1100Leu)
n.5834A>T
c.1869+1612A>T (n.1869+1612A>T)
c.3466A>T (p.Met1156Leu)
c.3478A>T (p.Met1160Leu)
c.3451A>T (p.Met1151Leu)
c.3397A>T (p.Met1133Leu)
c.2797A>T (p.Met933Leu)
c.3745A>T (p.Met1249Leu)
c.3742A>T (p.Met1248Leu)
c.3661A>T (p.Met1221Leu)
c.3592A>T (p.Met1198Leu)
c.3460A>T (p.Met1154Leu)
c.3328A>T (p.Met1110Leu)
20g.32436194T>ACA408563151ASXL1c.3482T>A (p.Met1161Lys)
c.3299T>A (p.Met1100Lys)
n.5835T>A
c.1869+1613T>A (n.1869+1613T>A)
c.3467T>A (p.Met1156Lys)
c.3479T>A (p.Met1160Lys)
c.3452T>A (p.Met1151Lys)
c.3398T>A (p.Met1133Lys)
c.2798T>A (p.Met933Lys)
c.3746T>A (p.Met1249Lys)
c.3743T>A (p.Met1248Lys)
c.3662T>A (p.Met1221Lys)
c.3593T>A (p.Met1198Lys)
c.3461T>A (p.Met1154Lys)
c.3329T>A (p.Met1110Lys)
20g.32436194T>CCA9808837ASXL1c.3482T>C (p.Met1161Thr)
c.3299T>C (p.Met1100Thr)
n.5835T>C
c.1869+1613T>C (n.1869+1613T>C)
c.3467T>C (p.Met1156Thr)
c.3479T>C (p.Met1160Thr)
c.3452T>C (p.Met1151Thr)
c.3398T>C (p.Met1133Thr)
c.2798T>C (p.Met933Thr)
c.3746T>C (p.Met1249Thr)
c.3743T>C (p.Met1248Thr)
c.3662T>C (p.Met1221Thr)
c.3593T>C (p.Met1198Thr)
c.3461T>C (p.Met1154Thr)
c.3329T>C (p.Met1110Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436194T>GCA408563152ASXL1c.3482T>G (p.Met1161Arg)
c.3299T>G (p.Met1100Arg)
n.5835T>G
c.1869+1613T>G (n.1869+1613T>G)
c.3467T>G (p.Met1156Arg)
c.3479T>G (p.Met1160Arg)
c.3452T>G (p.Met1151Arg)
c.3398T>G (p.Met1133Arg)
c.2798T>G (p.Met933Arg)
c.3746T>G (p.Met1249Arg)
c.3743T>G (p.Met1248Arg)
c.3662T>G (p.Met1221Arg)
c.3593T>G (p.Met1198Arg)
c.3461T>G (p.Met1154Arg)
c.3329T>G (p.Met1110Arg)
20g.32436194T=CA2360293581ASXL1c.3482T= (p.Met1161=)
c.3299T= (p.Met1100=)
n.5835T=
c.1869+1613T= (n.1869+1613T=)
c.3467T= (p.Met1156=)
c.3479T= (p.Met1160=)
c.3452T= (p.Met1151=)
c.3398T= (p.Met1133=)
c.2798T= (p.Met933=)
c.3746T= (p.Met1249=)
c.3743T= (p.Met1248=)
c.3662T= (p.Met1221=)
c.3593T= (p.Met1198=)
c.3461T= (p.Met1154=)
c.3329T= (p.Met1110=)
20g.32436195G>ACA408563153ASXL1c.3483G>A (p.Met1161Ile)
c.3300G>A (p.Met1100Ile)
n.5836G>A
c.1869+1614G>A (n.1869+1614G>A)
c.3468G>A (p.Met1156Ile)
c.3480G>A (p.Met1160Ile)
c.3453G>A (p.Met1151Ile)
c.3399G>A (p.Met1133Ile)
c.2799G>A (p.Met933Ile)
c.3747G>A (p.Met1249Ile)
c.3744G>A (p.Met1248Ile)
c.3663G>A (p.Met1221Ile)
c.3594G>A (p.Met1198Ile)
c.3462G>A (p.Met1154Ile)
c.3330G>A (p.Met1110Ile)
 dbSNP
20g.32436195G>CCA408563154ASXL1c.3483G>C (p.Met1161Ile)
c.3300G>C (p.Met1100Ile)
n.5836G>C
c.1869+1614G>C (n.1869+1614G>C)
c.3468G>C (p.Met1156Ile)
c.3480G>C (p.Met1160Ile)
c.3453G>C (p.Met1151Ile)
c.3399G>C (p.Met1133Ile)
c.2799G>C (p.Met933Ile)
c.3747G>C (p.Met1249Ile)
c.3744G>C (p.Met1248Ile)
c.3663G>C (p.Met1221Ile)
c.3594G>C (p.Met1198Ile)
c.3462G>C (p.Met1154Ile)
c.3330G>C (p.Met1110Ile)
20g.32436195G=CA2360293582ASXL1c.3483G= (p.Met1161=)
c.3300G= (p.Met1100=)
n.5836G=
c.1869+1614G= (n.1869+1614G=)
c.3468G= (p.Met1156=)
c.3480G= (p.Met1160=)
c.3453G= (p.Met1151=)
c.3399G= (p.Met1133=)
c.2799G= (p.Met933=)
c.3747G= (p.Met1249=)
c.3744G= (p.Met1248=)
c.3663G= (p.Met1221=)
c.3594G= (p.Met1198=)
c.3462G= (p.Met1154=)
c.3330G= (p.Met1110=)
20g.32436195G>TCA408563155ASXL1c.3483G>T (p.Met1161Ile)
c.3300G>T (p.Met1100Ile)
n.5836G>T
c.1869+1614G>T (n.1869+1614G>T)
c.3468G>T (p.Met1156Ile)
c.3480G>T (p.Met1160Ile)
c.3453G>T (p.Met1151Ile)
c.3399G>T (p.Met1133Ile)
c.2799G>T (p.Met933Ile)
c.3747G>T (p.Met1249Ile)
c.3744G>T (p.Met1248Ile)
c.3663G>T (p.Met1221Ile)
c.3594G>T (p.Met1198Ile)
c.3462G>T (p.Met1154Ile)
c.3330G>T (p.Met1110Ile)
20g.32436196G>ACA408563158ASXL1c.3484G>A (p.Val1162Ile)
c.3301G>A (p.Val1101Ile)
n.5837G>A
c.1869+1615G>A (n.1869+1615G>A)
c.3469G>A (p.Val1157Ile)
c.3481G>A (p.Val1161Ile)
c.3454G>A (p.Val1152Ile)
c.3400G>A (p.Val1134Ile)
c.2800G>A (p.Val934Ile)
c.3748G>A (p.Val1250Ile)
c.3745G>A (p.Val1249Ile)
c.3664G>A (p.Val1222Ile)
c.3595G>A (p.Val1199Ile)
c.3463G>A (p.Val1155Ile)
c.3331G>A (p.Val1111Ile)
 dbSNP gnomAD v4
20g.32436196G>CCA408563157ASXL1c.3484G>C (p.Val1162Leu)
c.3301G>C (p.Val1101Leu)
n.5837G>C
c.1869+1615G>C (n.1869+1615G>C)
c.3469G>C (p.Val1157Leu)
c.3481G>C (p.Val1161Leu)
c.3454G>C (p.Val1152Leu)
c.3400G>C (p.Val1134Leu)
c.2800G>C (p.Val934Leu)
c.3748G>C (p.Val1250Leu)
c.3745G>C (p.Val1249Leu)
c.3664G>C (p.Val1222Leu)
c.3595G>C (p.Val1199Leu)
c.3463G>C (p.Val1155Leu)
c.3331G>C (p.Val1111Leu)
20g.32436196G>TCA408563156ASXL1c.3484G>T (p.Val1162Phe)
c.3301G>T (p.Val1101Phe)
n.5837G>T
c.1869+1615G>T (n.1869+1615G>T)
c.3469G>T (p.Val1157Phe)
c.3481G>T (p.Val1161Phe)
c.3454G>T (p.Val1152Phe)
c.3400G>T (p.Val1134Phe)
c.2800G>T (p.Val934Phe)
c.3748G>T (p.Val1250Phe)
c.3745G>T (p.Val1249Phe)
c.3664G>T (p.Val1222Phe)
c.3595G>T (p.Val1199Phe)
c.3463G>T (p.Val1155Phe)
c.3331G>T (p.Val1111Phe)
20g.32436197T>ACA408563159ASXL1c.3485T>A (p.Val1162Asp)
c.3302T>A (p.Val1101Asp)
n.5838T>A
c.1869+1616T>A (n.1869+1616T>A)
c.3470T>A (p.Val1157Asp)
c.3482T>A (p.Val1161Asp)
c.3455T>A (p.Val1152Asp)
c.3401T>A (p.Val1134Asp)
c.2801T>A (p.Val934Asp)
c.3749T>A (p.Val1250Asp)
c.3746T>A (p.Val1249Asp)
c.3665T>A (p.Val1222Asp)
c.3596T>A (p.Val1199Asp)
c.3464T>A (p.Val1155Asp)
c.3332T>A (p.Val1111Asp)
20g.32436197T>CCA408563160ASXL1c.3485T>C (p.Val1162Ala)
c.3302T>C (p.Val1101Ala)
n.5838T>C
c.1869+1616T>C (n.1869+1616T>C)
c.3470T>C (p.Val1157Ala)
c.3482T>C (p.Val1161Ala)
c.3455T>C (p.Val1152Ala)
c.3401T>C (p.Val1134Ala)
c.2801T>C (p.Val934Ala)
c.3749T>C (p.Val1250Ala)
c.3746T>C (p.Val1249Ala)
c.3665T>C (p.Val1222Ala)
c.3596T>C (p.Val1199Ala)
c.3464T>C (p.Val1155Ala)
c.3332T>C (p.Val1111Ala)
20g.32436197T>GCA408563161ASXL1c.3485T>G (p.Val1162Gly)
c.3302T>G (p.Val1101Gly)
n.5838T>G
c.1869+1616T>G (n.1869+1616T>G)
c.3470T>G (p.Val1157Gly)
c.3482T>G (p.Val1161Gly)
c.3455T>G (p.Val1152Gly)
c.3401T>G (p.Val1134Gly)
c.2801T>G (p.Val934Gly)
c.3749T>G (p.Val1250Gly)
c.3746T>G (p.Val1249Gly)
c.3665T>G (p.Val1222Gly)
c.3596T>G (p.Val1199Gly)
c.3464T>G (p.Val1155Gly)
c.3332T>G (p.Val1111Gly)
20g.32436198T>ACA510467277ASXL1c.3486T>A (p.Val1162=)
c.3303T>A (p.Val1101=)
n.5839T>A
c.1869+1617T>A (n.1869+1617T>A)
c.3471T>A (p.Val1157=)
c.3483T>A (p.Val1161=)
c.3456T>A (p.Val1152=)
c.3402T>A (p.Val1134=)
c.2802T>A (p.Val934=)
c.3750T>A (p.Val1250=)
c.3747T>A (p.Val1249=)
c.3666T>A (p.Val1222=)
c.3597T>A (p.Val1199=)
c.3465T>A (p.Val1155=)
c.3333T>A (p.Val1111=)
20g.32436198T>CCA510467278ASXL1c.3486T>C (p.Val1162=)
c.3303T>C (p.Val1101=)
n.5839T>C
c.1869+1617T>C (n.1869+1617T>C)
c.3471T>C (p.Val1157=)
c.3483T>C (p.Val1161=)
c.3456T>C (p.Val1152=)
c.3402T>C (p.Val1134=)
c.2802T>C (p.Val934=)
c.3750T>C (p.Val1250=)
c.3747T>C (p.Val1249=)
c.3666T>C (p.Val1222=)
c.3597T>C (p.Val1199=)
c.3465T>C (p.Val1155=)
c.3333T>C (p.Val1111=)
20g.32436198T>GCA9808838ASXL1c.3486T>G (p.Val1162=)
c.3303T>G (p.Val1101=)
n.5839T>G
c.1869+1617T>G (n.1869+1617T>G)
c.3471T>G (p.Val1157=)
c.3483T>G (p.Val1161=)
c.3456T>G (p.Val1152=)
c.3402T>G (p.Val1134=)
c.2802T>G (p.Val934=)
c.3750T>G (p.Val1250=)
c.3747T>G (p.Val1249=)
c.3666T>G (p.Val1222=)
c.3597T>G (p.Val1199=)
c.3465T>G (p.Val1155=)
c.3333T>G (p.Val1111=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436198T=CA2360293583ASXL1c.3486T= (p.Val1162=)
c.3303T= (p.Val1101=)
n.5839T=
c.1869+1617T= (n.1869+1617T=)
c.3471T= (p.Val1157=)
c.3483T= (p.Val1161=)
c.3456T= (p.Val1152=)
c.3402T= (p.Val1134=)
c.2802T= (p.Val934=)
c.3750T= (p.Val1250=)
c.3747T= (p.Val1249=)
c.3666T= (p.Val1222=)
c.3597T= (p.Val1199=)
c.3465T= (p.Val1155=)
c.3333T= (p.Val1111=)
20g.32436199G>ACA9808839ASXL1c.3487G>A (p.Asp1163Asn)
c.3304G>A (p.Asp1102Asn)
n.5840G>A
c.1869+1618G>A (n.1869+1618G>A)
c.3472G>A (p.Asp1158Asn)
c.3484G>A (p.Asp1162Asn)
c.3457G>A (p.Asp1153Asn)
c.3403G>A (p.Asp1135Asn)
c.2803G>A (p.Asp935Asn)
c.3751G>A (p.Asp1251Asn)
c.3748G>A (p.Asp1250Asn)
c.3667G>A (p.Asp1223Asn)
c.3598G>A (p.Asp1200Asn)
c.3466G>A (p.Asp1156Asn)
c.3334G>A (p.Asp1112Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436199G>CCA408563162ASXL1c.3487G>C (p.Asp1163His)
c.3304G>C (p.Asp1102His)
n.5840G>C
c.1869+1618G>C (n.1869+1618G>C)
c.3472G>C (p.Asp1158His)
c.3484G>C (p.Asp1162His)
c.3457G>C (p.Asp1153His)
c.3403G>C (p.Asp1135His)
c.2803G>C (p.Asp935His)
c.3751G>C (p.Asp1251His)
c.3748G>C (p.Asp1250His)
c.3667G>C (p.Asp1223His)
c.3598G>C (p.Asp1200His)
c.3466G>C (p.Asp1156His)
c.3334G>C (p.Asp1112His)
20g.32436199G=CA2360293584ASXL1c.3487G= (p.Asp1163=)
c.3304G= (p.Asp1102=)
n.5840G=
c.1869+1618G= (n.1869+1618G=)
c.3472G= (p.Asp1158=)
c.3484G= (p.Asp1162=)
c.3457G= (p.Asp1153=)
c.3403G= (p.Asp1135=)
c.2803G= (p.Asp935=)
c.3751G= (p.Asp1251=)
c.3748G= (p.Asp1250=)
c.3667G= (p.Asp1223=)
c.3598G= (p.Asp1200=)
c.3466G= (p.Asp1156=)
c.3334G= (p.Asp1112=)
20g.32436199G>TCA408563163ASXL1c.3487G>T (p.Asp1163Tyr)
c.3304G>T (p.Asp1102Tyr)
n.5840G>T
c.1869+1618G>T (n.1869+1618G>T)
c.3472G>T (p.Asp1158Tyr)
c.3484G>T (p.Asp1162Tyr)
c.3457G>T (p.Asp1153Tyr)
c.3403G>T (p.Asp1135Tyr)
c.2803G>T (p.Asp935Tyr)
c.3751G>T (p.Asp1251Tyr)
c.3748G>T (p.Asp1250Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3466G>T (p.Asp1156Tyr)
c.3334G>T (p.Asp1112Tyr)
20g.32436200A=CA2360293585ASXL1c.3488A= (p.Asp1163=)
c.3305A= (p.Asp1102=)
n.5841A=
c.1869+1619A= (n.1869+1619A=)
c.3473A= (p.Asp1158=)
c.3485A= (p.Asp1162=)
c.3458A= (p.Asp1153=)
c.3404A= (p.Asp1135=)
c.2804A= (p.Asp935=)
c.3752A= (p.Asp1251=)
c.3749A= (p.Asp1250=)
c.3668A= (p.Asp1223=)
c.3599A= (p.Asp1200=)
c.3467A= (p.Asp1156=)
c.3335A= (p.Asp1112=)
20g.32436200A>CCA408563164ASXL1c.3488A>C (p.Asp1163Ala)
c.3305A>C (p.Asp1102Ala)
n.5841A>C
c.1869+1619A>C (n.1869+1619A>C)
c.3473A>C (p.Asp1158Ala)
c.3485A>C (p.Asp1162Ala)
c.3458A>C (p.Asp1153Ala)
c.3404A>C (p.Asp1135Ala)
c.2804A>C (p.Asp935Ala)
c.3752A>C (p.Asp1251Ala)
c.3749A>C (p.Asp1250Ala)
c.3668A>C (p.Asp1223Ala)
c.3599A>C (p.Asp1200Ala)
c.3467A>C (p.Asp1156Ala)
c.3335A>C (p.Asp1112Ala)
20g.32436200A>GCA9808840ASXL1c.3488A>G (p.Asp1163Gly)
c.3305A>G (p.Asp1102Gly)
n.5841A>G
c.1869+1619A>G (n.1869+1619A>G)
c.3473A>G (p.Asp1158Gly)
c.3485A>G (p.Asp1162Gly)
c.3458A>G (p.Asp1153Gly)
c.3404A>G (p.Asp1135Gly)
c.2804A>G (p.Asp935Gly)
c.3752A>G (p.Asp1251Gly)
c.3749A>G (p.Asp1250Gly)
c.3668A>G (p.Asp1223Gly)
c.3599A>G (p.Asp1200Gly)
c.3467A>G (p.Asp1156Gly)
c.3335A>G (p.Asp1112Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436200A>TCA408563165ASXL1c.3488A>T (p.Asp1163Val)
c.3305A>T (p.Asp1102Val)
n.5841A>T
c.1869+1619A>T (n.1869+1619A>T)
c.3473A>T (p.Asp1158Val)
c.3485A>T (p.Asp1162Val)
c.3458A>T (p.Asp1153Val)
c.3404A>T (p.Asp1135Val)
c.2804A>T (p.Asp935Val)
c.3752A>T (p.Asp1251Val)
c.3749A>T (p.Asp1250Val)
c.3668A>T (p.Asp1223Val)
c.3599A>T (p.Asp1200Val)
c.3467A>T (p.Asp1156Val)
c.3335A>T (p.Asp1112Val)
20g.32436201T>ACA408563166ASXL1c.3489T>A (p.Asp1163Glu)
c.3306T>A (p.Asp1102Glu)
n.5842T>A
c.1869+1620T>A (n.1869+1620T>A)
c.3474T>A (p.Asp1158Glu)
c.3486T>A (p.Asp1162Glu)
c.3459T>A (p.Asp1153Glu)
c.3405T>A (p.Asp1135Glu)
c.2805T>A (p.Asp935Glu)
c.3753T>A (p.Asp1251Glu)
c.3750T>A (p.Asp1250Glu)
c.3669T>A (p.Asp1223Glu)
c.3600T>A (p.Asp1200Glu)
c.3468T>A (p.Asp1156Glu)
c.3336T>A (p.Asp1112Glu)
20g.32436201T>CCA510467279ASXL1c.3489T>C (p.Asp1163=)
c.3306T>C (p.Asp1102=)
n.5842T>C
c.1869+1620T>C (n.1869+1620T>C)
c.3474T>C (p.Asp1158=)
c.3486T>C (p.Asp1162=)
c.3459T>C (p.Asp1153=)
c.3405T>C (p.Asp1135=)
c.2805T>C (p.Asp935=)
c.3753T>C (p.Asp1251=)
c.3750T>C (p.Asp1250=)
c.3669T>C (p.Asp1223=)
c.3600T>C (p.Asp1200=)
c.3468T>C (p.Asp1156=)
c.3336T>C (p.Asp1112=)
20g.32436201T>GCA408563167ASXL1c.3489T>G (p.Asp1163Glu)
c.3306T>G (p.Asp1102Glu)
n.5842T>G
c.1869+1620T>G (n.1869+1620T>G)
c.3474T>G (p.Asp1158Glu)
c.3486T>G (p.Asp1162Glu)
c.3459T>G (p.Asp1153Glu)
c.3405T>G (p.Asp1135Glu)
c.2805T>G (p.Asp935Glu)
c.3753T>G (p.Asp1251Glu)
c.3750T>G (p.Asp1250Glu)
c.3669T>G (p.Asp1223Glu)
c.3600T>G (p.Asp1200Glu)
c.3468T>G (p.Asp1156Glu)
c.3336T>G (p.Asp1112Glu)
20g.32436202G>ACA408563170ASXL1c.3490G>A (p.Gly1164Arg)
c.3307G>A (p.Gly1103Arg)
n.5843G>A
c.1869+1621G>A (n.1869+1621G>A)
c.3475G>A (p.Gly1159Arg)
c.3487G>A (p.Gly1163Arg)
c.3460G>A (p.Gly1154Arg)
c.3406G>A (p.Gly1136Arg)
c.2806G>A (p.Gly936Arg)
c.3754G>A (p.Gly1252Arg)
c.3751G>A (p.Gly1251Arg)
c.3670G>A (p.Gly1224Arg)
c.3601G>A (p.Gly1201Arg)
c.3469G>A (p.Gly1157Arg)
c.3337G>A (p.Gly1113Arg)
 dbSNP
20g.32436202G>CCA408563169ASXL1c.3490G>C (p.Gly1164Arg)
c.3307G>C (p.Gly1103Arg)
n.5843G>C
c.1869+1621G>C (n.1869+1621G>C)
c.3475G>C (p.Gly1159Arg)
c.3487G>C (p.Gly1163Arg)
c.3460G>C (p.Gly1154Arg)
c.3406G>C (p.Gly1136Arg)
c.2806G>C (p.Gly936Arg)
c.3754G>C (p.Gly1252Arg)
c.3751G>C (p.Gly1251Arg)
c.3670G>C (p.Gly1224Arg)
c.3601G>C (p.Gly1201Arg)
c.3469G>C (p.Gly1157Arg)
c.3337G>C (p.Gly1113Arg)
 gnomAD v4
20g.32436202G>TCA408563168ASXL1c.3490G>T (p.Gly1164Ter)
c.3307G>T (p.Gly1103Ter)
n.5843G>T
c.1869+1621G>T (n.1869+1621G>T)
c.3475G>T (p.Gly1159Ter)
c.3487G>T (p.Gly1163Ter)
c.3460G>T (p.Gly1154Ter)
c.3406G>T (p.Gly1136Ter)
c.2806G>T (p.Gly936Ter)
c.3754G>T (p.Gly1252Ter)
c.3751G>T (p.Gly1251Ter)
c.3670G>T (p.Gly1224Ter)
c.3601G>T (p.Gly1201Ter)
c.3469G>T (p.Gly1157Ter)
c.3337G>T (p.Gly1113Ter)
20g.32436203G>ACA408563171ASXL1c.3491G>A (p.Gly1164Glu)
c.3308G>A (p.Gly1103Glu)
n.5844G>A
c.1869+1622G>A (n.1869+1622G>A)
c.3476G>A (p.Gly1159Glu)
c.3488G>A (p.Gly1163Glu)
c.3461G>A (p.Gly1154Glu)
c.3407G>A (p.Gly1136Glu)
c.2807G>A (p.Gly936Glu)
c.3755G>A (p.Gly1252Glu)
c.3752G>A (p.Gly1251Glu)
c.3671G>A (p.Gly1224Glu)
c.3602G>A (p.Gly1201Glu)
c.3470G>A (p.Gly1157Glu)
c.3338G>A (p.Gly1113Glu)
 dbSNP
20g.32436203G>CCA408563173ASXL1c.3491G>C (p.Gly1164Ala)
c.3308G>C (p.Gly1103Ala)
n.5844G>C
c.1869+1622G>C (n.1869+1622G>C)
c.3476G>C (p.Gly1159Ala)
c.3488G>C (p.Gly1163Ala)
c.3461G>C (p.Gly1154Ala)
c.3407G>C (p.Gly1136Ala)
c.2807G>C (p.Gly936Ala)
c.3755G>C (p.Gly1252Ala)
c.3752G>C (p.Gly1251Ala)
c.3671G>C (p.Gly1224Ala)
c.3602G>C (p.Gly1201Ala)
c.3470G>C (p.Gly1157Ala)
c.3338G>C (p.Gly1113Ala)
20g.32436203G=CA2360293586ASXL1c.3491G= (p.Gly1164=)
c.3308G= (p.Gly1103=)
n.5844G=
c.1869+1622G= (n.1869+1622G=)
c.3476G= (p.Gly1159=)
c.3488G= (p.Gly1163=)
c.3461G= (p.Gly1154=)
c.3407G= (p.Gly1136=)
c.2807G= (p.Gly936=)
c.3755G= (p.Gly1252=)
c.3752G= (p.Gly1251=)
c.3671G= (p.Gly1224=)
c.3602G= (p.Gly1201=)
c.3470G= (p.Gly1157=)
c.3338G= (p.Gly1113=)
20g.32436203G>TCA408563172ASXL1c.3491G>T (p.Gly1164Val)
c.3308G>T (p.Gly1103Val)
n.5844G>T
c.1869+1622G>T (n.1869+1622G>T)
c.3476G>T (p.Gly1159Val)
c.3488G>T (p.Gly1163Val)
c.3461G>T (p.Gly1154Val)
c.3407G>T (p.Gly1136Val)
c.2807G>T (p.Gly936Val)
c.3755G>T (p.Gly1252Val)
c.3752G>T (p.Gly1251Val)
c.3671G>T (p.Gly1224Val)
c.3602G>T (p.Gly1201Val)
c.3470G>T (p.Gly1157Val)
c.3338G>T (p.Gly1113Val)
 gnomAD v4
20g.32436204A=CA2360293587ASXL1c.3492A= (p.Gly1164=)
c.3309A= (p.Gly1103=)
n.5845A=
c.1869+1623A= (n.1869+1623A=)
c.3477A= (p.Gly1159=)
c.3489A= (p.Gly1163=)
c.3462A= (p.Gly1154=)
c.3408A= (p.Gly1136=)
c.2808A= (p.Gly936=)
c.3756A= (p.Gly1252=)
c.3753A= (p.Gly1251=)
c.3672A= (p.Gly1224=)
c.3603A= (p.Gly1201=)
c.3471A= (p.Gly1157=)
c.3339A= (p.Gly1113=)
20g.32436204A>CCA510467280ASXL1c.3492A>C (p.Gly1164=)
c.3309A>C (p.Gly1103=)
n.5845A>C
c.1869+1623A>C (n.1869+1623A>C)
c.3477A>C (p.Gly1159=)
c.3489A>C (p.Gly1163=)
c.3462A>C (p.Gly1154=)
c.3408A>C (p.Gly1136=)
c.2808A>C (p.Gly936=)
c.3756A>C (p.Gly1252=)
c.3753A>C (p.Gly1251=)
c.3672A>C (p.Gly1224=)
c.3603A>C (p.Gly1201=)
c.3471A>C (p.Gly1157=)
c.3339A>C (p.Gly1113=)
20g.32436204A>GCA510467281ASXL1c.3492A>G (p.Gly1164=)
c.3309A>G (p.Gly1103=)
n.5845A>G
c.1869+1623A>G (n.1869+1623A>G)
c.3477A>G (p.Gly1159=)
c.3489A>G (p.Gly1163=)
c.3462A>G (p.Gly1154=)
c.3408A>G (p.Gly1136=)
c.2808A>G (p.Gly936=)
c.3756A>G (p.Gly1252=)
c.3753A>G (p.Gly1251=)
c.3672A>G (p.Gly1224=)
c.3603A>G (p.Gly1201=)
c.3471A>G (p.Gly1157=)
c.3339A>G (p.Gly1113=)
20g.32436204A>TCA510467282ASXL1c.3492A>T (p.Gly1164=)
c.3309A>T (p.Gly1103=)
n.5845A>T
c.1869+1623A>T (n.1869+1623A>T)
c.3477A>T (p.Gly1159=)
c.3489A>T (p.Gly1163=)
c.3462A>T (p.Gly1154=)
c.3408A>T (p.Gly1136=)
c.2808A>T (p.Gly936=)
c.3756A>T (p.Gly1252=)
c.3753A>T (p.Gly1251=)
c.3672A>T (p.Gly1224=)
c.3603A>T (p.Gly1201=)
c.3471A>T (p.Gly1157=)
c.3339A>T (p.Gly1113=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436205A>CCA408563174ASXL1c.3493A>C (p.Ser1165Arg)
c.3310A>C (p.Ser1104Arg)
n.5846A>C
c.1869+1624A>C (n.1869+1624A>C)
c.3478A>C (p.Ser1160Arg)
c.3490A>C (p.Ser1164Arg)
c.3463A>C (p.Ser1155Arg)
c.3409A>C (p.Ser1137Arg)
c.2809A>C (p.Ser937Arg)
c.3757A>C (p.Ser1253Arg)
c.3754A>C (p.Ser1252Arg)
c.3673A>C (p.Ser1225Arg)
c.3604A>C (p.Ser1202Arg)
c.3472A>C (p.Ser1158Arg)
c.3340A>C (p.Ser1114Arg)
20g.32436205A>GCA408563176ASXL1c.3493A>G (p.Ser1165Gly)
c.3310A>G (p.Ser1104Gly)
n.5846A>G
c.1869+1624A>G (n.1869+1624A>G)
c.3478A>G (p.Ser1160Gly)
c.3490A>G (p.Ser1164Gly)
c.3463A>G (p.Ser1155Gly)
c.3409A>G (p.Ser1137Gly)
c.2809A>G (p.Ser937Gly)
c.3757A>G (p.Ser1253Gly)
c.3754A>G (p.Ser1252Gly)
c.3673A>G (p.Ser1225Gly)
c.3604A>G (p.Ser1202Gly)
c.3472A>G (p.Ser1158Gly)
c.3340A>G (p.Ser1114Gly)
20g.32436205A>TCA408563175ASXL1c.3493A>T (p.Ser1165Cys)
c.3310A>T (p.Ser1104Cys)
n.5846A>T
c.1869+1624A>T (n.1869+1624A>T)
c.3478A>T (p.Ser1160Cys)
c.3490A>T (p.Ser1164Cys)
c.3463A>T (p.Ser1155Cys)
c.3409A>T (p.Ser1137Cys)
c.2809A>T (p.Ser937Cys)
c.3757A>T (p.Ser1253Cys)
c.3754A>T (p.Ser1252Cys)
c.3673A>T (p.Ser1225Cys)
c.3604A>T (p.Ser1202Cys)
c.3472A>T (p.Ser1158Cys)
c.3340A>T (p.Ser1114Cys)
20g.32436206G>ACA408563177ASXL1c.3494G>A (p.Ser1165Asn)
c.3311G>A (p.Ser1104Asn)
n.5847G>A
c.1869+1625G>A (n.1869+1625G>A)
c.3479G>A (p.Ser1160Asn)
c.3491G>A (p.Ser1164Asn)
c.3464G>A (p.Ser1155Asn)
c.3410G>A (p.Ser1137Asn)
c.2810G>A (p.Ser937Asn)
c.3758G>A (p.Ser1253Asn)
c.3755G>A (p.Ser1252Asn)
c.3674G>A (p.Ser1225Asn)
c.3605G>A (p.Ser1202Asn)
c.3473G>A (p.Ser1158Asn)
c.3341G>A (p.Ser1114Asn)
20g.32436206G>CCA408563178ASXL1c.3494G>C (p.Ser1165Thr)
c.3311G>C (p.Ser1104Thr)
n.5847G>C
c.1869+1625G>C (n.1869+1625G>C)
c.3479G>C (p.Ser1160Thr)
c.3491G>C (p.Ser1164Thr)
c.3464G>C (p.Ser1155Thr)
c.3410G>C (p.Ser1137Thr)
c.2810G>C (p.Ser937Thr)
c.3758G>C (p.Ser1253Thr)
c.3755G>C (p.Ser1252Thr)
c.3674G>C (p.Ser1225Thr)
c.3605G>C (p.Ser1202Thr)
c.3473G>C (p.Ser1158Thr)
c.3341G>C (p.Ser1114Thr)
20g.32436206G>TCA408563179ASXL1c.3494G>T (p.Ser1165Ile)
c.3311G>T (p.Ser1104Ile)
n.5847G>T
c.1869+1625G>T (n.1869+1625G>T)
c.3479G>T (p.Ser1160Ile)
c.3491G>T (p.Ser1164Ile)
c.3464G>T (p.Ser1155Ile)
c.3410G>T (p.Ser1137Ile)
c.2810G>T (p.Ser937Ile)
c.3758G>T (p.Ser1253Ile)
c.3755G>T (p.Ser1252Ile)
c.3674G>T (p.Ser1225Ile)
c.3605G>T (p.Ser1202Ile)
c.3473G>T (p.Ser1158Ile)
c.3341G>T (p.Ser1114Ile)
20g.32436207C>ACA408563180ASXL1c.3495C>A (p.Ser1165Arg)
c.3312C>A (p.Ser1104Arg)
n.5848C>A
c.1869+1626C>A (n.1869+1626C>A)
c.3480C>A (p.Ser1160Arg)
c.3492C>A (p.Ser1164Arg)
c.3465C>A (p.Ser1155Arg)
c.3411C>A (p.Ser1137Arg)
c.2811C>A (p.Ser937Arg)
c.3759C>A (p.Ser1253Arg)
c.3756C>A (p.Ser1252Arg)
c.3675C>A (p.Ser1225Arg)
c.3606C>A (p.Ser1202Arg)
c.3474C>A (p.Ser1158Arg)
c.3342C>A (p.Ser1114Arg)
20g.32436207C>GCA408563181ASXL1c.3495C>G (p.Ser1165Arg)
c.3312C>G (p.Ser1104Arg)
n.5848C>G
c.1869+1626C>G (n.1869+1626C>G)
c.3480C>G (p.Ser1160Arg)
c.3492C>G (p.Ser1164Arg)
c.3465C>G (p.Ser1155Arg)
c.3411C>G (p.Ser1137Arg)
c.2811C>G (p.Ser937Arg)
c.3759C>G (p.Ser1253Arg)
c.3756C>G (p.Ser1252Arg)
c.3675C>G (p.Ser1225Arg)
c.3606C>G (p.Ser1202Arg)
c.3474C>G (p.Ser1158Arg)
c.3342C>G (p.Ser1114Arg)
20g.32436207C>TCA510467283ASXL1c.3495C>T (p.Ser1165=)
c.3312C>T (p.Ser1104=)
n.5848C>T
c.1869+1626C>T (n.1869+1626C>T)
c.3480C>T (p.Ser1160=)
c.3492C>T (p.Ser1164=)
c.3465C>T (p.Ser1155=)
c.3411C>T (p.Ser1137=)
c.2811C>T (p.Ser937=)
c.3759C>T (p.Ser1253=)
c.3756C>T (p.Ser1252=)
c.3675C>T (p.Ser1225=)
c.3606C>T (p.Ser1202=)
c.3474C>T (p.Ser1158=)
c.3342C>T (p.Ser1114=)
 dbSNP
20g.32436208A>CCA408563182ASXL1c.3496A>C (p.Ser1166Arg)
c.3313A>C (p.Ser1105Arg)
n.5849A>C
c.1869+1627A>C (n.1869+1627A>C)
c.3481A>C (p.Ser1161Arg)
c.3493A>C (p.Ser1165Arg)
c.3466A>C (p.Ser1156Arg)
c.3412A>C (p.Ser1138Arg)
c.2812A>C (p.Ser938Arg)
c.3760A>C (p.Ser1254Arg)
c.3757A>C (p.Ser1253Arg)
c.3676A>C (p.Ser1226Arg)
c.3607A>C (p.Ser1203Arg)
c.3475A>C (p.Ser1159Arg)
c.3343A>C (p.Ser1115Arg)
20g.32436208A>GCA408563183ASXL1c.3496A>G (p.Ser1166Gly)
c.3313A>G (p.Ser1105Gly)
n.5849A>G
c.1869+1627A>G (n.1869+1627A>G)
c.3481A>G (p.Ser1161Gly)
c.3493A>G (p.Ser1165Gly)
c.3466A>G (p.Ser1156Gly)
c.3412A>G (p.Ser1138Gly)
c.2812A>G (p.Ser938Gly)
c.3760A>G (p.Ser1254Gly)
c.3757A>G (p.Ser1253Gly)
c.3676A>G (p.Ser1226Gly)
c.3607A>G (p.Ser1203Gly)
c.3475A>G (p.Ser1159Gly)
c.3343A>G (p.Ser1115Gly)
20g.32436208A>TCA408563184ASXL1c.3496A>T (p.Ser1166Cys)
c.3313A>T (p.Ser1105Cys)
n.5849A>T
c.1869+1627A>T (n.1869+1627A>T)
c.3481A>T (p.Ser1161Cys)
c.3493A>T (p.Ser1165Cys)
c.3466A>T (p.Ser1156Cys)
c.3412A>T (p.Ser1138Cys)
c.2812A>T (p.Ser938Cys)
c.3760A>T (p.Ser1254Cys)
c.3757A>T (p.Ser1253Cys)
c.3676A>T (p.Ser1226Cys)
c.3607A>T (p.Ser1203Cys)
c.3475A>T (p.Ser1159Cys)
c.3343A>T (p.Ser1115Cys)
20g.32436209G>ACA408563185ASXL1c.3497G>A (p.Ser1166Asn)
c.3314G>A (p.Ser1105Asn)
n.5850G>A
c.1869+1628G>A (n.1869+1628G>A)
c.3482G>A (p.Ser1161Asn)
c.3494G>A (p.Ser1165Asn)
c.3467G>A (p.Ser1156Asn)
c.3413G>A (p.Ser1138Asn)
c.2813G>A (p.Ser938Asn)
c.3761G>A (p.Ser1254Asn)
c.3758G>A (p.Ser1253Asn)
c.3677G>A (p.Ser1226Asn)
c.3608G>A (p.Ser1203Asn)
c.3476G>A (p.Ser1159Asn)
c.3344G>A (p.Ser1115Asn)
 dbSNP
20g.32436209G>CCA408563186ASXL1c.3497G>C (p.Ser1166Thr)
c.3314G>C (p.Ser1105Thr)
n.5850G>C
c.1869+1628G>C (n.1869+1628G>C)
c.3482G>C (p.Ser1161Thr)
c.3494G>C (p.Ser1165Thr)
c.3467G>C (p.Ser1156Thr)
c.3413G>C (p.Ser1138Thr)
c.2813G>C (p.Ser938Thr)
c.3761G>C (p.Ser1254Thr)
c.3758G>C (p.Ser1253Thr)
c.3677G>C (p.Ser1226Thr)
c.3608G>C (p.Ser1203Thr)
c.3476G>C (p.Ser1159Thr)
c.3344G>C (p.Ser1115Thr)
20g.32436209G>TCA408563187ASXL1c.3497G>T (p.Ser1166Ile)
c.3314G>T (p.Ser1105Ile)
n.5850G>T
c.1869+1628G>T (n.1869+1628G>T)
c.3482G>T (p.Ser1161Ile)
c.3494G>T (p.Ser1165Ile)
c.3467G>T (p.Ser1156Ile)
c.3413G>T (p.Ser1138Ile)
c.2813G>T (p.Ser938Ile)
c.3761G>T (p.Ser1254Ile)
c.3758G>T (p.Ser1253Ile)
c.3677G>T (p.Ser1226Ile)
c.3608G>T (p.Ser1203Ile)
c.3476G>T (p.Ser1159Ile)
c.3344G>T (p.Ser1115Ile)
20g.32436210C>ACA408563188ASXL1c.3498C>A (p.Ser1166Arg)
c.3315C>A (p.Ser1105Arg)
n.5851C>A
c.1869+1629C>A (n.1869+1629C>A)
c.3483C>A (p.Ser1161Arg)
c.3495C>A (p.Ser1165Arg)
c.3468C>A (p.Ser1156Arg)
c.3414C>A (p.Ser1138Arg)
c.2814C>A (p.Ser938Arg)
c.3762C>A (p.Ser1254Arg)
c.3759C>A (p.Ser1253Arg)
c.3678C>A (p.Ser1226Arg)
c.3609C>A (p.Ser1203Arg)
c.3477C>A (p.Ser1159Arg)
c.3345C>A (p.Ser1115Arg)
20g.32436210C=CA2360293588ASXL1c.3498C= (p.Ser1166=)
c.3315C= (p.Ser1105=)
n.5851C=
c.1869+1629C= (n.1869+1629C=)
c.3483C= (p.Ser1161=)
c.3495C= (p.Ser1165=)
c.3468C= (p.Ser1156=)
c.3414C= (p.Ser1138=)
c.2814C= (p.Ser938=)
c.3762C= (p.Ser1254=)
c.3759C= (p.Ser1253=)
c.3678C= (p.Ser1226=)
c.3609C= (p.Ser1203=)
c.3477C= (p.Ser1159=)
c.3345C= (p.Ser1115=)
20g.32436210C>GCA157005ASXL1c.3498C>G (p.Ser1166Arg)
c.3315C>G (p.Ser1105Arg)
n.5851C>G
c.1869+1629C>G (n.1869+1629C>G)
c.3483C>G (p.Ser1161Arg)
c.3495C>G (p.Ser1165Arg)
c.3468C>G (p.Ser1156Arg)
c.3414C>G (p.Ser1138Arg)
c.2814C>G (p.Ser938Arg)
c.3762C>G (p.Ser1254Arg)
c.3759C>G (p.Ser1253Arg)
c.3678C>G (p.Ser1226Arg)
c.3609C>G (p.Ser1203Arg)
c.3477C>G (p.Ser1159Arg)
c.3345C>G (p.Ser1115Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436210C>TCA510467284ASXL1c.3498C>T (p.Ser1166=)
c.3315C>T (p.Ser1105=)
n.5851C>T
c.1869+1629C>T (n.1869+1629C>T)
c.3483C>T (p.Ser1161=)
c.3495C>T (p.Ser1165=)
c.3468C>T (p.Ser1156=)
c.3414C>T (p.Ser1138=)
c.2814C>T (p.Ser938=)
c.3762C>T (p.Ser1254=)
c.3759C>T (p.Ser1253=)
c.3678C>T (p.Ser1226=)
c.3609C>T (p.Ser1203=)
c.3477C>T (p.Ser1159=)
c.3345C>T (p.Ser1115=)
 dbSNP
20g.32436210_32436211insGGGCCCAGAGAATCA891842350ASXL1c.3498_3499insGGGCCCAGAGAAT (p.Pro1167GlyfsTer19)
c.3315_3316insGGGCCCAGAGAAT (p.Pro1106GlyfsTer19)
n.5851_5852insGGGCCCAGAGAAT
c.1869+1629_1869+1630insGGGCCCAGAGAAT (n.1869+1629_1869+1630insGGGCCCAGAGAAT)
c.3483_3484insGGGCCCAGAGAAT (p.Pro1162GlyfsTer19)
c.3495_3496insGGGCCCAGAGAAT (p.Pro1166GlyfsTer19)
c.3468_3469insGGGCCCAGAGAAT (p.Pro1157GlyfsTer19)
c.3414_3415insGGGCCCAGAGAAT (p.Pro1139GlyfsTer19)
c.2814_2815insGGGCCCAGAGAAT (p.Pro939GlyfsTer19)
c.3762_3763insGGGCCCAGAGAAT (p.Pro1255GlyfsTer19)
c.3759_3760insGGGCCCAGAGAAT (p.Pro1254GlyfsTer19)
c.3678_3679insGGGCCCAGAGAAT (p.Pro1227GlyfsTer19)
c.3609_3610insGGGCCCAGAGAAT (p.Pro1204GlyfsTer19)
c.3477_3478insGGGCCCAGAGAAT (p.Pro1160GlyfsTer19)
c.3345_3346insGGGCCCAGAGAAT (p.Pro1116GlyfsTer19)
20g.32436211C>ACA408563189ASXL1c.3499C>A (p.Pro1167Thr)
c.3316C>A (p.Pro1106Thr)
n.5852C>A
c.1869+1630C>A (n.1869+1630C>A)
c.3484C>A (p.Pro1162Thr)
c.3496C>A (p.Pro1166Thr)
c.3469C>A (p.Pro1157Thr)
c.3415C>A (p.Pro1139Thr)
c.2815C>A (p.Pro939Thr)
c.3763C>A (p.Pro1255Thr)
c.3760C>A (p.Pro1254Thr)
c.3679C>A (p.Pro1227Thr)
c.3610C>A (p.Pro1204Thr)
c.3478C>A (p.Pro1160Thr)
c.3346C>A (p.Pro1116Thr)
 dbSNP
20g.32436211C=CA2360293589ASXL1c.3499C= (p.Pro1167=)
c.3316C= (p.Pro1106=)
n.5852C=
c.1869+1630C= (n.1869+1630C=)
c.3484C= (p.Pro1162=)
c.3496C= (p.Pro1166=)
c.3469C= (p.Pro1157=)
c.3415C= (p.Pro1139=)
c.2815C= (p.Pro939=)
c.3763C= (p.Pro1255=)
c.3760C= (p.Pro1254=)
c.3679C= (p.Pro1227=)
c.3610C= (p.Pro1204=)
c.3478C= (p.Pro1160=)
c.3346C= (p.Pro1116=)
20g.32436211C>GCA408563190ASXL1c.3499C>G (p.Pro1167Ala)
c.3316C>G (p.Pro1106Ala)
n.5852C>G
c.1869+1630C>G (n.1869+1630C>G)
c.3484C>G (p.Pro1162Ala)
c.3496C>G (p.Pro1166Ala)
c.3469C>G (p.Pro1157Ala)
c.3415C>G (p.Pro1139Ala)
c.2815C>G (p.Pro939Ala)
c.3763C>G (p.Pro1255Ala)
c.3760C>G (p.Pro1254Ala)
c.3679C>G (p.Pro1227Ala)
c.3610C>G (p.Pro1204Ala)
c.3478C>G (p.Pro1160Ala)
c.3346C>G (p.Pro1116Ala)
 dbSNP gnomAD v4
20g.32436211C>TCA408563191ASXL1c.3499C>T (p.Pro1167Ser)
c.3316C>T (p.Pro1106Ser)
n.5852C>T
c.1869+1630C>T (n.1869+1630C>T)
c.3484C>T (p.Pro1162Ser)
c.3496C>T (p.Pro1166Ser)
c.3469C>T (p.Pro1157Ser)
c.3415C>T (p.Pro1139Ser)
c.2815C>T (p.Pro939Ser)
c.3763C>T (p.Pro1255Ser)
c.3760C>T (p.Pro1254Ser)
c.3679C>T (p.Pro1227Ser)
c.3610C>T (p.Pro1204Ser)
c.3478C>T (p.Pro1160Ser)
c.3346C>T (p.Pro1116Ser)
20g.32436212C>ACA408563192ASXL1c.3500C>A (p.Pro1167His)
c.3317C>A (p.Pro1106His)
n.5853C>A
c.1869+1631C>A (n.1869+1631C>A)
c.3485C>A (p.Pro1162His)
c.3497C>A (p.Pro1166His)
c.3470C>A (p.Pro1157His)
c.3416C>A (p.Pro1139His)
c.2816C>A (p.Pro939His)
c.3764C>A (p.Pro1255His)
c.3761C>A (p.Pro1254His)
c.3680C>A (p.Pro1227His)
c.3611C>A (p.Pro1204His)
c.3479C>A (p.Pro1160His)
c.3347C>A (p.Pro1116His)
20g.32436212C>GCA408563193ASXL1c.3500C>G (p.Pro1167Arg)
c.3317C>G (p.Pro1106Arg)
n.5853C>G
c.1869+1631C>G (n.1869+1631C>G)
c.3485C>G (p.Pro1162Arg)
c.3497C>G (p.Pro1166Arg)
c.3470C>G (p.Pro1157Arg)
c.3416C>G (p.Pro1139Arg)
c.2816C>G (p.Pro939Arg)
c.3764C>G (p.Pro1255Arg)
c.3761C>G (p.Pro1254Arg)
c.3680C>G (p.Pro1227Arg)
c.3611C>G (p.Pro1204Arg)
c.3479C>G (p.Pro1160Arg)
c.3347C>G (p.Pro1116Arg)
20g.32436212C>TCA408563194ASXL1c.3500C>T (p.Pro1167Leu)
c.3317C>T (p.Pro1106Leu)
n.5853C>T
c.1869+1631C>T (n.1869+1631C>T)
c.3485C>T (p.Pro1162Leu)
c.3497C>T (p.Pro1166Leu)
c.3470C>T (p.Pro1157Leu)
c.3416C>T (p.Pro1139Leu)
c.2816C>T (p.Pro939Leu)
c.3764C>T (p.Pro1255Leu)
c.3761C>T (p.Pro1254Leu)
c.3680C>T (p.Pro1227Leu)
c.3611C>T (p.Pro1204Leu)
c.3479C>T (p.Pro1160Leu)
c.3347C>T (p.Pro1116Leu)
 dbSNP
20g.32436213C>ACA510467285ASXL1c.3501C>A (p.Pro1167=)
c.3318C>A (p.Pro1106=)
n.5854C>A
c.1869+1632C>A (n.1869+1632C>A)
c.3486C>A (p.Pro1162=)
c.3498C>A (p.Pro1166=)
c.3471C>A (p.Pro1157=)
c.3417C>A (p.Pro1139=)
c.2817C>A (p.Pro939=)
c.3765C>A (p.Pro1255=)
c.3762C>A (p.Pro1254=)
c.3681C>A (p.Pro1227=)
c.3612C>A (p.Pro1204=)
c.3480C>A (p.Pro1160=)
c.3348C>A (p.Pro1116=)
20g.32436213C=CA2360293590ASXL1c.3501C= (p.Pro1167=)
c.3318C= (p.Pro1106=)
n.5854C=
c.1869+1632C= (n.1869+1632C=)
c.3486C= (p.Pro1162=)
c.3498C= (p.Pro1166=)
c.3471C= (p.Pro1157=)
c.3417C= (p.Pro1139=)
c.2817C= (p.Pro939=)
c.3765C= (p.Pro1255=)
c.3762C= (p.Pro1254=)
c.3681C= (p.Pro1227=)
c.3612C= (p.Pro1204=)
c.3480C= (p.Pro1160=)
c.3348C= (p.Pro1116=)
20g.32436213C>GCA510467286ASXL1c.3501C>G (p.Pro1167=)
c.3318C>G (p.Pro1106=)
n.5854C>G
c.1869+1632C>G (n.1869+1632C>G)
c.3486C>G (p.Pro1162=)
c.3498C>G (p.Pro1166=)
c.3471C>G (p.Pro1157=)
c.3417C>G (p.Pro1139=)
c.2817C>G (p.Pro939=)
c.3765C>G (p.Pro1255=)
c.3762C>G (p.Pro1254=)
c.3681C>G (p.Pro1227=)
c.3612C>G (p.Pro1204=)
c.3480C>G (p.Pro1160=)
c.3348C>G (p.Pro1116=)
20g.32436213C>TCA510467287ASXL1c.3501C>T (p.Pro1167=)
c.3318C>T (p.Pro1106=)
n.5854C>T
c.1869+1632C>T (n.1869+1632C>T)
c.3486C>T (p.Pro1162=)
c.3498C>T (p.Pro1166=)
c.3471C>T (p.Pro1157=)
c.3417C>T (p.Pro1139=)
c.2817C>T (p.Pro939=)
c.3765C>T (p.Pro1255=)
c.3762C>T (p.Pro1254=)
c.3681C>T (p.Pro1227=)
c.3612C>T (p.Pro1204=)
c.3480C>T (p.Pro1160=)
c.3348C>T (p.Pro1116=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436214delCA2577366313ASXL1c.3502del (p.Ser1168ValfsTer3)
c.3319del (p.Ser1107ValfsTer3)
n.5855del
c.1869+1633del (n.1869+1633del)
c.3487del (p.Ser1163ValfsTer3)
c.3499del (p.Ser1167ValfsTer3)
c.3472del (p.Ser1158ValfsTer3)
c.3418del (p.Ser1140ValfsTer3)
c.2818del (p.Ser940ValfsTer3)
c.3766del (p.Ser1256ValfsTer3)
c.3763del (p.Ser1255ValfsTer3)
c.3682del (p.Ser1228ValfsTer3)
c.3613del (p.Ser1205ValfsTer3)
c.3481del (p.Ser1161ValfsTer3)
c.3349del (p.Ser1117ValfsTer3)
20g.32436214A=CA2360293591ASXL1c.3502A= (p.Ser1168=)
c.3319A= (p.Ser1107=)
n.5855A=
c.1869+1633A= (n.1869+1633A=)
c.3487A= (p.Ser1163=)
c.3499A= (p.Ser1167=)
c.3472A= (p.Ser1158=)
c.3418A= (p.Ser1140=)
c.2818A= (p.Ser940=)
c.3766A= (p.Ser1256=)
c.3763A= (p.Ser1255=)
c.3682A= (p.Ser1228=)
c.3613A= (p.Ser1205=)
c.3481A= (p.Ser1161=)
c.3349A= (p.Ser1117=)
20g.32436214A>CCA408563195ASXL1c.3502A>C (p.Ser1168Arg)
c.3319A>C (p.Ser1107Arg)
n.5855A>C
c.1869+1633A>C (n.1869+1633A>C)
c.3487A>C (p.Ser1163Arg)
c.3499A>C (p.Ser1167Arg)
c.3472A>C (p.Ser1158Arg)
c.3418A>C (p.Ser1140Arg)
c.2818A>C (p.Ser940Arg)
c.3766A>C (p.Ser1256Arg)
c.3763A>C (p.Ser1255Arg)
c.3682A>C (p.Ser1228Arg)
c.3613A>C (p.Ser1205Arg)
c.3481A>C (p.Ser1161Arg)
c.3349A>C (p.Ser1117Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436214A>GCA408563196ASXL1c.3502A>G (p.Ser1168Gly)
c.3319A>G (p.Ser1107Gly)
n.5855A>G
c.1869+1633A>G (n.1869+1633A>G)
c.3487A>G (p.Ser1163Gly)
c.3499A>G (p.Ser1167Gly)
c.3472A>G (p.Ser1158Gly)
c.3418A>G (p.Ser1140Gly)
c.2818A>G (p.Ser940Gly)
c.3766A>G (p.Ser1256Gly)
c.3763A>G (p.Ser1255Gly)
c.3682A>G (p.Ser1228Gly)
c.3613A>G (p.Ser1205Gly)
c.3481A>G (p.Ser1161Gly)
c.3349A>G (p.Ser1117Gly)
20g.32436214A>TCA408563197ASXL1c.3502A>T (p.Ser1168Cys)
c.3319A>T (p.Ser1107Cys)
n.5855A>T
c.1869+1633A>T (n.1869+1633A>T)
c.3487A>T (p.Ser1163Cys)
c.3499A>T (p.Ser1167Cys)
c.3472A>T (p.Ser1158Cys)
c.3418A>T (p.Ser1140Cys)
c.2818A>T (p.Ser940Cys)
c.3766A>T (p.Ser1256Cys)
c.3763A>T (p.Ser1255Cys)
c.3682A>T (p.Ser1228Cys)
c.3613A>T (p.Ser1205Cys)
c.3481A>T (p.Ser1161Cys)
c.3349A>T (p.Ser1117Cys)
 gnomAD v4
20g.32436215G>ACA408563198ASXL1c.3503G>A (p.Ser1168Asn)
c.3320G>A (p.Ser1107Asn)
n.5856G>A
c.1869+1634G>A (n.1869+1634G>A)
c.3488G>A (p.Ser1163Asn)
c.3500G>A (p.Ser1167Asn)
c.3473G>A (p.Ser1158Asn)
c.3419G>A (p.Ser1140Asn)
c.2819G>A (p.Ser940Asn)
c.3767G>A (p.Ser1256Asn)
c.3764G>A (p.Ser1255Asn)
c.3683G>A (p.Ser1228Asn)
c.3614G>A (p.Ser1205Asn)
c.3482G>A (p.Ser1161Asn)
c.3350G>A (p.Ser1117Asn)
20g.32436215G>CCA157041ASXL1c.3503G>C (p.Ser1168Thr)
c.3320G>C (p.Ser1107Thr)
n.5856G>C
c.1869+1634G>C (n.1869+1634G>C)
c.3488G>C (p.Ser1163Thr)
c.3500G>C (p.Ser1167Thr)
c.3473G>C (p.Ser1158Thr)
c.3419G>C (p.Ser1140Thr)
c.2819G>C (p.Ser940Thr)
c.3767G>C (p.Ser1256Thr)
c.3764G>C (p.Ser1255Thr)
c.3683G>C (p.Ser1228Thr)
c.3614G>C (p.Ser1205Thr)
c.3482G>C (p.Ser1161Thr)
c.3350G>C (p.Ser1117Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436215G=CA2360293592ASXL1c.3503G= (p.Ser1168=)
c.3320G= (p.Ser1107=)
n.5856G=
c.1869+1634G= (n.1869+1634G=)
c.3488G= (p.Ser1163=)
c.3500G= (p.Ser1167=)
c.3473G= (p.Ser1158=)
c.3419G= (p.Ser1140=)
c.2819G= (p.Ser940=)
c.3767G= (p.Ser1256=)
c.3764G= (p.Ser1255=)
c.3683G= (p.Ser1228=)
c.3614G= (p.Ser1205=)
c.3482G= (p.Ser1161=)
c.3350G= (p.Ser1117=)
20g.32436215G>TCA408563199ASXL1c.3503G>T (p.Ser1168Ile)
c.3320G>T (p.Ser1107Ile)
n.5856G>T
c.1869+1634G>T (n.1869+1634G>T)
c.3488G>T (p.Ser1163Ile)
c.3500G>T (p.Ser1167Ile)
c.3473G>T (p.Ser1158Ile)
c.3419G>T (p.Ser1140Ile)
c.2819G>T (p.Ser940Ile)
c.3767G>T (p.Ser1256Ile)
c.3764G>T (p.Ser1255Ile)
c.3683G>T (p.Ser1228Ile)
c.3614G>T (p.Ser1205Ile)
c.3482G>T (p.Ser1161Ile)
c.3350G>T (p.Ser1117Ile)
20g.32436216T>ACA408563201ASXL1c.3504T>A (p.Ser1168Arg)
c.3321T>A (p.Ser1107Arg)
n.5857T>A
c.1869+1635T>A (n.1869+1635T>A)
c.3489T>A (p.Ser1163Arg)
c.3501T>A (p.Ser1167Arg)
c.3474T>A (p.Ser1158Arg)
c.3420T>A (p.Ser1140Arg)
c.2820T>A (p.Ser940Arg)
c.3768T>A (p.Ser1256Arg)
c.3765T>A (p.Ser1255Arg)
c.3684T>A (p.Ser1228Arg)
c.3615T>A (p.Ser1205Arg)
c.3483T>A (p.Ser1161Arg)
c.3351T>A (p.Ser1117Arg)
20g.32436216T>CCA510467288ASXL1c.3504T>C (p.Ser1168=)
c.3321T>C (p.Ser1107=)
n.5857T>C
c.1869+1635T>C (n.1869+1635T>C)
c.3489T>C (p.Ser1163=)
c.3501T>C (p.Ser1167=)
c.3474T>C (p.Ser1158=)
c.3420T>C (p.Ser1140=)
c.2820T>C (p.Ser940=)
c.3768T>C (p.Ser1256=)
c.3765T>C (p.Ser1255=)
c.3684T>C (p.Ser1228=)
c.3615T>C (p.Ser1205=)
c.3483T>C (p.Ser1161=)
c.3351T>C (p.Ser1117=)
20g.32436216T>GCA408563200ASXL1c.3504T>G (p.Ser1168Arg)
c.3321T>G (p.Ser1107Arg)
n.5857T>G
c.1869+1635T>G (n.1869+1635T>G)
c.3489T>G (p.Ser1163Arg)
c.3501T>G (p.Ser1167Arg)
c.3474T>G (p.Ser1158Arg)
c.3420T>G (p.Ser1140Arg)
c.2820T>G (p.Ser940Arg)
c.3768T>G (p.Ser1256Arg)
c.3765T>G (p.Ser1255Arg)
c.3684T>G (p.Ser1228Arg)
c.3615T>G (p.Ser1205Arg)
c.3483T>G (p.Ser1161Arg)
c.3351T>G (p.Ser1117Arg)
20g.32436217delCA2577366314ASXL1c.3505del (p.Ser1169LeufsTer2)
c.3322del (p.Ser1108LeufsTer2)
n.5858del
c.1869+1636del (n.1869+1636del)
c.3490del (p.Ser1164LeufsTer2)
c.3502del (p.Ser1168LeufsTer2)
c.3475del (p.Ser1159LeufsTer2)
c.3421del (p.Ser1141LeufsTer2)
c.2821del (p.Ser941LeufsTer2)
c.3769del (p.Ser1257LeufsTer2)
c.3766del (p.Ser1256LeufsTer2)
c.3685del (p.Ser1229LeufsTer2)
c.3616del (p.Ser1206LeufsTer2)
c.3484del (p.Ser1162LeufsTer2)
c.3352del (p.Ser1118LeufsTer2)
20g.32436217T>ACA408563202ASXL1c.3505T>A (p.Ser1169Thr)
c.3322T>A (p.Ser1108Thr)
n.5858T>A
c.1869+1636T>A (n.1869+1636T>A)
c.3490T>A (p.Ser1164Thr)
c.3502T>A (p.Ser1168Thr)
c.3475T>A (p.Ser1159Thr)
c.3421T>A (p.Ser1141Thr)
c.2821T>A (p.Ser941Thr)
c.3769T>A (p.Ser1257Thr)
c.3766T>A (p.Ser1256Thr)
c.3685T>A (p.Ser1229Thr)
c.3616T>A (p.Ser1206Thr)
c.3484T>A (p.Ser1162Thr)
c.3352T>A (p.Ser1118Thr)
 dbSNP
20g.32436217T>CCA408563203ASXL1c.3505T>C (p.Ser1169Pro)
c.3322T>C (p.Ser1108Pro)
n.5858T>C
c.1869+1636T>C (n.1869+1636T>C)
c.3490T>C (p.Ser1164Pro)
c.3502T>C (p.Ser1168Pro)
c.3475T>C (p.Ser1159Pro)
c.3421T>C (p.Ser1141Pro)
c.2821T>C (p.Ser941Pro)
c.3769T>C (p.Ser1257Pro)
c.3766T>C (p.Ser1256Pro)
c.3685T>C (p.Ser1229Pro)
c.3616T>C (p.Ser1206Pro)
c.3484T>C (p.Ser1162Pro)
c.3352T>C (p.Ser1118Pro)
20g.32436217T>GCA408563204ASXL1c.3505T>G (p.Ser1169Ala)
c.3322T>G (p.Ser1108Ala)
n.5858T>G
c.1869+1636T>G (n.1869+1636T>G)
c.3490T>G (p.Ser1164Ala)
c.3502T>G (p.Ser1168Ala)
c.3475T>G (p.Ser1159Ala)
c.3421T>G (p.Ser1141Ala)
c.2821T>G (p.Ser941Ala)
c.3769T>G (p.Ser1257Ala)
c.3766T>G (p.Ser1256Ala)
c.3685T>G (p.Ser1229Ala)
c.3616T>G (p.Ser1206Ala)
c.3484T>G (p.Ser1162Ala)
c.3352T>G (p.Ser1118Ala)
20g.32436218C>ACA408563205ASXL1c.3506C>A (p.Ser1169Tyr)
c.3323C>A (p.Ser1108Tyr)
n.5859C>A
c.1869+1637C>A (n.1869+1637C>A)
c.3491C>A (p.Ser1164Tyr)
c.3503C>A (p.Ser1168Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3422C>A (p.Ser1141Tyr)
c.2822C>A (p.Ser941Tyr)
c.3770C>A (p.Ser1257Tyr)
c.3767C>A (p.Ser1256Tyr)
c.3686C>A (p.Ser1229Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3353C>A (p.Ser1118Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436218C=CA2360293593ASXL1c.3506C= (p.Ser1169=)
c.3323C= (p.Ser1108=)
n.5859C=
c.1869+1637C= (n.1869+1637C=)
c.3491C= (p.Ser1164=)
c.3503C= (p.Ser1168=)
c.3476C= (p.Ser1159=)
c.3422C= (p.Ser1141=)
c.2822C= (p.Ser941=)
c.3770C= (p.Ser1257=)
c.3767C= (p.Ser1256=)
c.3686C= (p.Ser1229=)
c.3617C= (p.Ser1206=)
c.3485C= (p.Ser1162=)
c.3353C= (p.Ser1118=)
20g.32436218C>GCA408563206ASXL1c.3506C>G (p.Ser1169Cys)
c.3323C>G (p.Ser1108Cys)
n.5859C>G
c.1869+1637C>G (n.1869+1637C>G)
c.3491C>G (p.Ser1164Cys)
c.3503C>G (p.Ser1168Cys)
c.3476C>G (p.Ser1159Cys)
c.3422C>G (p.Ser1141Cys)
c.2822C>G (p.Ser941Cys)
c.3770C>G (p.Ser1257Cys)
c.3767C>G (p.Ser1256Cys)
c.3686C>G (p.Ser1229Cys)
c.3617C>G (p.Ser1206Cys)
c.3485C>G (p.Ser1162Cys)
c.3353C>G (p.Ser1118Cys)
20g.32436218C>TCA408563207ASXL1c.3506C>T (p.Ser1169Phe)
c.3323C>T (p.Ser1108Phe)
n.5859C>T
c.1869+1637C>T (n.1869+1637C>T)
c.3491C>T (p.Ser1164Phe)
c.3503C>T (p.Ser1168Phe)
c.3476C>T (p.Ser1159Phe)
c.3422C>T (p.Ser1141Phe)
c.2822C>T (p.Ser941Phe)
c.3770C>T (p.Ser1257Phe)
c.3767C>T (p.Ser1256Phe)
c.3686C>T (p.Ser1229Phe)
c.3617C>T (p.Ser1206Phe)
c.3485C>T (p.Ser1162Phe)
c.3353C>T (p.Ser1118Phe)
 ClinVar gnomAD v4 COSMIC COSMIC
20g.32436219T>ACA510467289ASXL1c.3507T>A (p.Ser1169=)
c.3324T>A (p.Ser1108=)
n.5860T>A
c.1869+1638T>A (n.1869+1638T>A)
c.3492T>A (p.Ser1164=)
c.3504T>A (p.Ser1168=)
c.3477T>A (p.Ser1159=)
c.3423T>A (p.Ser1141=)
c.2823T>A (p.Ser941=)
c.3771T>A (p.Ser1257=)
c.3768T>A (p.Ser1256=)
c.3687T>A (p.Ser1229=)
c.3618T>A (p.Ser1206=)
c.3486T>A (p.Ser1162=)
c.3354T>A (p.Ser1118=)
20g.32436219T>CCA510467290ASXL1c.3507T>C (p.Ser1169=)
c.3324T>C (p.Ser1108=)
n.5860T>C
c.1869+1638T>C (n.1869+1638T>C)
c.3492T>C (p.Ser1164=)
c.3504T>C (p.Ser1168=)
c.3477T>C (p.Ser1159=)
c.3423T>C (p.Ser1141=)
c.2823T>C (p.Ser941=)
c.3771T>C (p.Ser1257=)
c.3768T>C (p.Ser1256=)
c.3687T>C (p.Ser1229=)
c.3618T>C (p.Ser1206=)
c.3486T>C (p.Ser1162=)
c.3354T>C (p.Ser1118=)
20g.32436219T>GCA510467291ASXL1c.3507T>G (p.Ser1169=)
c.3324T>G (p.Ser1108=)
n.5860T>G
c.1869+1638T>G (n.1869+1638T>G)
c.3492T>G (p.Ser1164=)
c.3504T>G (p.Ser1168=)
c.3477T>G (p.Ser1159=)
c.3423T>G (p.Ser1141=)
c.2823T>G (p.Ser941=)
c.3771T>G (p.Ser1257=)
c.3768T>G (p.Ser1256=)
c.3687T>G (p.Ser1229=)
c.3618T>G (p.Ser1206=)
c.3486T>G (p.Ser1162=)
c.3354T>G (p.Ser1118=)
20g.32436221dupCA510467292ASXL1c.3509dup (p.Leu1170PhefsTer12)
c.3326dup (p.Leu1109PhefsTer12)
n.5862dup
c.1869+1640dup (n.1869+1640dup)
c.3494dup (p.Leu1165PhefsTer12)
c.3506dup (p.Leu1169PhefsTer12)
c.3479dup (p.Leu1160PhefsTer12)
c.3425dup (p.Leu1142PhefsTer12)
c.2825dup (p.Leu942PhefsTer12)
c.3773dup (p.Leu1258PhefsTer12)
c.3770dup (p.Leu1257PhefsTer12)
c.3689dup (p.Leu1230PhefsTer12)
c.3620dup (p.Leu1207PhefsTer12)
c.3488dup (p.Leu1163PhefsTer12)
c.3356dup (p.Leu1119PhefsTer12)
 COSMIC
20g.32436220T>ACA408563208ASXL1c.3508T>A (p.Leu1170Ile)
c.3325T>A (p.Leu1109Ile)
n.5861T>A
c.1869+1639T>A (n.1869+1639T>A)
c.3493T>A (p.Leu1165Ile)
c.3505T>A (p.Leu1169Ile)
c.3478T>A (p.Leu1160Ile)
c.3424T>A (p.Leu1142Ile)
c.2824T>A (p.Leu942Ile)
c.3772T>A (p.Leu1258Ile)
c.3769T>A (p.Leu1257Ile)
c.3688T>A (p.Leu1230Ile)
c.3619T>A (p.Leu1207Ile)
c.3487T>A (p.Leu1163Ile)
c.3355T>A (p.Leu1119Ile)
20g.32436220T>CCA510467293ASXL1c.3508T>C (p.Leu1170=)
c.3325T>C (p.Leu1109=)
n.5861T>C
c.1869+1639T>C (n.1869+1639T>C)
c.3493T>C (p.Leu1165=)
c.3505T>C (p.Leu1169=)
c.3478T>C (p.Leu1160=)
c.3424T>C (p.Leu1142=)
c.2824T>C (p.Leu942=)
c.3772T>C (p.Leu1258=)
c.3769T>C (p.Leu1257=)
c.3688T>C (p.Leu1230=)
c.3619T>C (p.Leu1207=)
c.3487T>C (p.Leu1163=)
c.3355T>C (p.Leu1119=)
 gnomAD v4
20g.32436220T>GCA408563209ASXL1c.3508T>G (p.Leu1170Val)
c.3325T>G (p.Leu1109Val)
n.5861T>G
c.1869+1639T>G (n.1869+1639T>G)
c.3493T>G (p.Leu1165Val)
c.3505T>G (p.Leu1169Val)
c.3478T>G (p.Leu1160Val)
c.3424T>G (p.Leu1142Val)
c.2824T>G (p.Leu942Val)
c.3772T>G (p.Leu1258Val)
c.3769T>G (p.Leu1257Val)
c.3688T>G (p.Leu1230Val)
c.3619T>G (p.Leu1207Val)
c.3487T>G (p.Leu1163Val)
c.3355T>G (p.Leu1119Val)
20g.32436221T>ACA408563210ASXL1c.3509T>A (p.Leu1170Ter)
c.3326T>A (p.Leu1109Ter)
n.5862T>A
c.1869+1640T>A (n.1869+1640T>A)
c.3494T>A (p.Leu1165Ter)
c.3506T>A (p.Leu1169Ter)
c.3479T>A (p.Leu1160Ter)
c.3425T>A (p.Leu1142Ter)
c.2825T>A (p.Leu942Ter)
c.3773T>A (p.Leu1258Ter)
c.3770T>A (p.Leu1257Ter)
c.3689T>A (p.Leu1230Ter)
c.3620T>A (p.Leu1207Ter)
c.3488T>A (p.Leu1163Ter)
c.3356T>A (p.Leu1119Ter)
20g.32436221T>CCA408563211ASXL1c.3509T>C (p.Leu1170Ser)
c.3326T>C (p.Leu1109Ser)
n.5862T>C
c.1869+1640T>C (n.1869+1640T>C)
c.3494T>C (p.Leu1165Ser)
c.3506T>C (p.Leu1169Ser)
c.3479T>C (p.Leu1160Ser)
c.3425T>C (p.Leu1142Ser)
c.2825T>C (p.Leu942Ser)
c.3773T>C (p.Leu1258Ser)
c.3770T>C (p.Leu1257Ser)
c.3689T>C (p.Leu1230Ser)
c.3620T>C (p.Leu1207Ser)
c.3488T>C (p.Leu1163Ser)
c.3356T>C (p.Leu1119Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436221T>GCA408563212ASXL1c.3509T>G (p.Leu1170Ter)
c.3326T>G (p.Leu1109Ter)
n.5862T>G
c.1869+1640T>G (n.1869+1640T>G)
c.3494T>G (p.Leu1165Ter)
c.3506T>G (p.Leu1169Ter)
c.3479T>G (p.Leu1160Ter)
c.3425T>G (p.Leu1142Ter)
c.2825T>G (p.Leu942Ter)
c.3773T>G (p.Leu1258Ter)
c.3770T>G (p.Leu1257Ter)
c.3689T>G (p.Leu1230Ter)
c.3620T>G (p.Leu1207Ter)
c.3488T>G (p.Leu1163Ter)
c.3356T>G (p.Leu1119Ter)
20g.32436221T=CA2360293594ASXL1c.3509T= (p.Leu1170=)
c.3326T= (p.Leu1109=)
n.5862T=
c.1869+1640T= (n.1869+1640T=)
c.3494T= (p.Leu1165=)
c.3506T= (p.Leu1169=)
c.3479T= (p.Leu1160=)
c.3425T= (p.Leu1142=)
c.2825T= (p.Leu942=)
c.3773T= (p.Leu1258=)
c.3770T= (p.Leu1257=)
c.3689T= (p.Leu1230=)
c.3620T= (p.Leu1207=)
c.3488T= (p.Leu1163=)
c.3356T= (p.Leu1119=)
20g.32436222A>CCA408563213ASXL1c.3510A>C (p.Leu1170Phe)
c.3327A>C (p.Leu1109Phe)
n.5863A>C
c.1869+1641A>C (n.1869+1641A>C)
c.3495A>C (p.Leu1165Phe)
c.3507A>C (p.Leu1169Phe)
c.3480A>C (p.Leu1160Phe)
c.3426A>C (p.Leu1142Phe)
c.2826A>C (p.Leu942Phe)
c.3774A>C (p.Leu1258Phe)
c.3771A>C (p.Leu1257Phe)
c.3690A>C (p.Leu1230Phe)
c.3621A>C (p.Leu1207Phe)
c.3489A>C (p.Leu1163Phe)
c.3357A>C (p.Leu1119Phe)
20g.32436222A>GCA510467295ASXL1c.3510A>G (p.Leu1170=)
c.3327A>G (p.Leu1109=)
n.5863A>G
c.1869+1641A>G (n.1869+1641A>G)
c.3495A>G (p.Leu1165=)
c.3507A>G (p.Leu1169=)
c.3480A>G (p.Leu1160=)
c.3426A>G (p.Leu1142=)
c.2826A>G (p.Leu942=)
c.3774A>G (p.Leu1258=)
c.3771A>G (p.Leu1257=)
c.3690A>G (p.Leu1230=)
c.3621A>G (p.Leu1207=)
c.3489A>G (p.Leu1163=)
c.3357A>G (p.Leu1119=)
20g.32436222A>TCA408563214ASXL1c.3510A>T (p.Leu1170Phe)
c.3327A>T (p.Leu1109Phe)
n.5863A>T
c.1869+1641A>T (n.1869+1641A>T)
c.3495A>T (p.Leu1165Phe)
c.3507A>T (p.Leu1169Phe)
c.3480A>T (p.Leu1160Phe)
c.3426A>T (p.Leu1142Phe)
c.2826A>T (p.Leu942Phe)
c.3774A>T (p.Leu1258Phe)
c.3771A>T (p.Leu1257Phe)
c.3690A>T (p.Leu1230Phe)
c.3621A>T (p.Leu1207Phe)
c.3489A>T (p.Leu1163Phe)
c.3357A>T (p.Leu1119Phe)
 gnomAD v4
20g.32436223A>CCA510467297ASXL1c.3511A>C (p.Arg1171=)
c.3328A>C (p.Arg1110=)
n.5864A>C
c.1869+1642A>C (n.1869+1642A>C)
c.3496A>C (p.Arg1166=)
c.3508A>C (p.Arg1170=)
c.3481A>C (p.Arg1161=)
c.3427A>C (p.Arg1143=)
c.2827A>C (p.Arg943=)
c.3775A>C (p.Arg1259=)
c.3772A>C (p.Arg1258=)
c.3691A>C (p.Arg1231=)
c.3622A>C (p.Arg1208=)
c.3490A>C (p.Arg1164=)
c.3358A>C (p.Arg1120=)
20g.32436223A>GCA408563216ASXL1c.3511A>G (p.Arg1171Gly)
c.3328A>G (p.Arg1110Gly)
n.5864A>G
c.1869+1642A>G (n.1869+1642A>G)
c.3496A>G (p.Arg1166Gly)
c.3508A>G (p.Arg1170Gly)
c.3481A>G (p.Arg1161Gly)
c.3427A>G (p.Arg1143Gly)
c.2827A>G (p.Arg943Gly)
c.3775A>G (p.Arg1259Gly)
c.3772A>G (p.Arg1258Gly)
c.3691A>G (p.Arg1231Gly)
c.3622A>G (p.Arg1208Gly)
c.3490A>G (p.Arg1164Gly)
c.3358A>G (p.Arg1120Gly)
 gnomAD v4
20g.32436223A>TCA408563215ASXL1c.3511A>T (p.Arg1171Trp)
c.3328A>T (p.Arg1110Trp)
n.5864A>T
c.1869+1642A>T (n.1869+1642A>T)
c.3496A>T (p.Arg1166Trp)
c.3508A>T (p.Arg1170Trp)
c.3481A>T (p.Arg1161Trp)
c.3427A>T (p.Arg1143Trp)
c.2827A>T (p.Arg943Trp)
c.3775A>T (p.Arg1259Trp)
c.3772A>T (p.Arg1258Trp)
c.3691A>T (p.Arg1231Trp)
c.3622A>T (p.Arg1208Trp)
c.3490A>T (p.Arg1164Trp)
c.3358A>T (p.Arg1120Trp)
20g.32436223_32436224delinsAGCA2360293595ASXL1c.3511_3512delinsAG (p.Arg1171=)
c.3328_3329delinsAG (p.Arg1110=)
n.5864_5865delinsAG
c.1869+1642_1869+1643delinsAG (n.1869+1642_1869+1643delinsAG)
c.3496_3497delinsAG (p.Arg1166=)
c.3508_3509delinsAG (p.Arg1170=)
c.3481_3482delinsAG (p.Arg1161=)
c.3427_3428delinsAG (p.Arg1143=)
c.2827_2828delinsAG (p.Arg943=)
c.3775_3776delinsAG (p.Arg1259=)
c.3772_3773delinsAG (p.Arg1258=)
c.3691_3692delinsAG (p.Arg1231=)
c.3622_3623delinsAG (p.Arg1208=)
c.3490_3491delinsAG (p.Arg1164=)
c.3358_3359delinsAG (p.Arg1120=)
20g.32436224G>ACA408563217ASXL1c.3512G>A (p.Arg1171Lys)
c.3329G>A (p.Arg1110Lys)
n.5865G>A
c.1869+1643G>A (n.1869+1643G>A)
c.3497G>A (p.Arg1166Lys)
c.3509G>A (p.Arg1170Lys)
c.3482G>A (p.Arg1161Lys)
c.3428G>A (p.Arg1143Lys)
c.2828G>A (p.Arg943Lys)
c.3776G>A (p.Arg1259Lys)
c.3773G>A (p.Arg1258Lys)
c.3692G>A (p.Arg1231Lys)
c.3623G>A (p.Arg1208Lys)
c.3491G>A (p.Arg1164Lys)
c.3359G>A (p.Arg1120Lys)
20g.32436224G>CCA408563218ASXL1c.3512G>C (p.Arg1171Thr)
c.3329G>C (p.Arg1110Thr)
n.5865G>C
c.1869+1643G>C (n.1869+1643G>C)
c.3497G>C (p.Arg1166Thr)
c.3509G>C (p.Arg1170Thr)
c.3482G>C (p.Arg1161Thr)
c.3428G>C (p.Arg1143Thr)
c.2828G>C (p.Arg943Thr)
c.3776G>C (p.Arg1259Thr)
c.3773G>C (p.Arg1258Thr)
c.3692G>C (p.Arg1231Thr)
c.3623G>C (p.Arg1208Thr)
c.3491G>C (p.Arg1164Thr)
c.3359G>C (p.Arg1120Thr)
 gnomAD v2 gnomAD v4
20g.32436224G>TCA408563219ASXL1c.3512G>T (p.Arg1171Met)
c.3329G>T (p.Arg1110Met)
n.5865G>T
c.1869+1643G>T (n.1869+1643G>T)
c.3497G>T (p.Arg1166Met)
c.3509G>T (p.Arg1170Met)
c.3482G>T (p.Arg1161Met)
c.3428G>T (p.Arg1143Met)
c.2828G>T (p.Arg943Met)
c.3776G>T (p.Arg1259Met)
c.3773G>T (p.Arg1258Met)
c.3692G>T (p.Arg1231Met)
c.3623G>T (p.Arg1208Met)
c.3491G>T (p.Arg1164Met)
c.3359G>T (p.Arg1120Met)
20g.32436226delCA645612965ASXL1c.3514del (p.Ala1172LeufsTer2)
c.3331del (p.Ala1111LeufsTer2)
n.5867del
c.1869+1645del (n.1869+1645del)
c.3499del (p.Ala1167LeufsTer2)
c.3511del (p.Ala1171LeufsTer2)
c.3484del (p.Ala1162LeufsTer2)
c.3430del (p.Ala1144LeufsTer2)
c.2830del (p.Ala944LeufsTer2)
c.3778del (p.Ala1260LeufsTer2)
c.3775del (p.Ala1259LeufsTer2)
c.3694del (p.Ala1232LeufsTer2)
c.3625del (p.Ala1209LeufsTer2)
c.3493del (p.Ala1165LeufsTer2)
c.3361del (p.Ala1121LeufsTer2)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436225G>ACA9808841ASXL1c.3513G>A (p.Arg1171=)
c.3330G>A (p.Arg1110=)
n.5866G>A
c.1869+1644G>A (n.1869+1644G>A)
c.3498G>A (p.Arg1166=)
c.3510G>A (p.Arg1170=)
c.3483G>A (p.Arg1161=)
c.3429G>A (p.Arg1143=)
c.2829G>A (p.Arg943=)
c.3777G>A (p.Arg1259=)
c.3774G>A (p.Arg1258=)
c.3693G>A (p.Arg1231=)
c.3624G>A (p.Arg1208=)
c.3492G>A (p.Arg1164=)
c.3360G>A (p.Arg1120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436225G>CCA408563220ASXL1c.3513G>C (p.Arg1171Ser)
c.3330G>C (p.Arg1110Ser)
n.5866G>C
c.1869+1644G>C (n.1869+1644G>C)
c.3498G>C (p.Arg1166Ser)
c.3510G>C (p.Arg1170Ser)
c.3483G>C (p.Arg1161Ser)
c.3429G>C (p.Arg1143Ser)
c.2829G>C (p.Arg943Ser)
c.3777G>C (p.Arg1259Ser)
c.3774G>C (p.Arg1258Ser)
c.3693G>C (p.Arg1231Ser)
c.3624G>C (p.Arg1208Ser)
c.3492G>C (p.Arg1164Ser)
c.3360G>C (p.Arg1120Ser)
 dbSNP gnomAD v4
20g.32436225G=CA2360293596ASXL1c.3513G= (p.Arg1171=)
c.3330G= (p.Arg1110=)
n.5866G=
c.1869+1644G= (n.1869+1644G=)
c.3498G= (p.Arg1166=)
c.3510G= (p.Arg1170=)
c.3483G= (p.Arg1161=)
c.3429G= (p.Arg1143=)
c.2829G= (p.Arg943=)
c.3777G= (p.Arg1259=)
c.3774G= (p.Arg1258=)
c.3693G= (p.Arg1231=)
c.3624G= (p.Arg1208=)
c.3492G= (p.Arg1164=)
c.3360G= (p.Arg1120=)
20g.32436225G>TCA408563221ASXL1c.3513G>T (p.Arg1171Ser)
c.3330G>T (p.Arg1110Ser)
n.5866G>T
c.1869+1644G>T (n.1869+1644G>T)
c.3498G>T (p.Arg1166Ser)
c.3510G>T (p.Arg1170Ser)
c.3483G>T (p.Arg1161Ser)
c.3429G>T (p.Arg1143Ser)
c.2829G>T (p.Arg943Ser)
c.3777G>T (p.Arg1259Ser)
c.3774G>T (p.Arg1258Ser)
c.3693G>T (p.Arg1231Ser)
c.3624G>T (p.Arg1208Ser)
c.3492G>T (p.Arg1164Ser)
c.3360G>T (p.Arg1120Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436226G>ACA9808842ASXL1c.3514G>A (p.Ala1172Thr)
c.3331G>A (p.Ala1111Thr)
n.5867G>A
c.1869+1645G>A (n.1869+1645G>A)
c.3499G>A (p.Ala1167Thr)
c.3511G>A (p.Ala1171Thr)
c.3484G>A (p.Ala1162Thr)
c.3430G>A (p.Ala1144Thr)
c.2830G>A (p.Ala944Thr)
c.3778G>A (p.Ala1260Thr)
c.3775G>A (p.Ala1259Thr)
c.3694G>A (p.Ala1232Thr)
c.3625G>A (p.Ala1209Thr)
c.3493G>A (p.Ala1165Thr)
c.3361G>A (p.Ala1121Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436226G>CCA408563222ASXL1c.3514G>C (p.Ala1172Pro)
c.3331G>C (p.Ala1111Pro)
n.5867G>C
c.1869+1645G>C (n.1869+1645G>C)
c.3499G>C (p.Ala1167Pro)
c.3511G>C (p.Ala1171Pro)
c.3484G>C (p.Ala1162Pro)
c.3430G>C (p.Ala1144Pro)
c.2830G>C (p.Ala944Pro)
c.3778G>C (p.Ala1260Pro)
c.3775G>C (p.Ala1259Pro)
c.3694G>C (p.Ala1232Pro)
c.3625G>C (p.Ala1209Pro)
c.3493G>C (p.Ala1165Pro)
c.3361G>C (p.Ala1121Pro)
20g.32436226G=CA2360293597ASXL1c.3514G= (p.Ala1172=)
c.3331G= (p.Ala1111=)
n.5867G=
c.1869+1645G= (n.1869+1645G=)
c.3499G= (p.Ala1167=)
c.3511G= (p.Ala1171=)
c.3484G= (p.Ala1162=)
c.3430G= (p.Ala1144=)
c.2830G= (p.Ala944=)
c.3778G= (p.Ala1260=)
c.3775G= (p.Ala1259=)
c.3694G= (p.Ala1232=)
c.3625G= (p.Ala1209=)
c.3493G= (p.Ala1165=)
c.3361G= (p.Ala1121=)
20g.32436226G>TCA408563223ASXL1c.3514G>T (p.Ala1172Ser)
c.3331G>T (p.Ala1111Ser)
n.5867G>T
c.1869+1645G>T (n.1869+1645G>T)
c.3499G>T (p.Ala1167Ser)
c.3511G>T (p.Ala1171Ser)
c.3484G>T (p.Ala1162Ser)
c.3430G>T (p.Ala1144Ser)
c.2830G>T (p.Ala944Ser)
c.3778G>T (p.Ala1260Ser)
c.3775G>T (p.Ala1259Ser)
c.3694G>T (p.Ala1232Ser)
c.3625G>T (p.Ala1209Ser)
c.3493G>T (p.Ala1165Ser)
c.3361G>T (p.Ala1121Ser)
20g.32436227C>ACA408563224ASXL1c.3515C>A (p.Ala1172Asp)
c.3332C>A (p.Ala1111Asp)
n.5868C>A
c.1869+1646C>A (n.1869+1646C>A)
c.3500C>A (p.Ala1167Asp)
c.3512C>A (p.Ala1171Asp)
c.3485C>A (p.Ala1162Asp)
c.3431C>A (p.Ala1144Asp)
c.2831C>A (p.Ala944Asp)
c.3779C>A (p.Ala1260Asp)
c.3776C>A (p.Ala1259Asp)
c.3695C>A (p.Ala1232Asp)
c.3626C>A (p.Ala1209Asp)
c.3494C>A (p.Ala1165Asp)
c.3362C>A (p.Ala1121Asp)
20g.32436227C=CA2360293598ASXL1c.3515C= (p.Ala1172=)
c.3332C= (p.Ala1111=)
n.5868C=
c.1869+1646C= (n.1869+1646C=)
c.3500C= (p.Ala1167=)
c.3512C= (p.Ala1171=)
c.3485C= (p.Ala1162=)
c.3431C= (p.Ala1144=)
c.2831C= (p.Ala944=)
c.3779C= (p.Ala1260=)
c.3776C= (p.Ala1259=)
c.3695C= (p.Ala1232=)
c.3626C= (p.Ala1209=)
c.3494C= (p.Ala1165=)
c.3362C= (p.Ala1121=)
20g.32436227C>GCA408563225ASXL1c.3515C>G (p.Ala1172Gly)
c.3332C>G (p.Ala1111Gly)
n.5868C>G
c.1869+1646C>G (n.1869+1646C>G)
c.3500C>G (p.Ala1167Gly)
c.3512C>G (p.Ala1171Gly)
c.3485C>G (p.Ala1162Gly)
c.3431C>G (p.Ala1144Gly)
c.2831C>G (p.Ala944Gly)
c.3779C>G (p.Ala1260Gly)
c.3776C>G (p.Ala1259Gly)
c.3695C>G (p.Ala1232Gly)
c.3626C>G (p.Ala1209Gly)
c.3494C>G (p.Ala1165Gly)
c.3362C>G (p.Ala1121Gly)
20g.32436227C>TCA408563226ASXL1c.3515C>T (p.Ala1172Val)
c.3332C>T (p.Ala1111Val)
n.5868C>T
c.1869+1646C>T (n.1869+1646C>T)
c.3500C>T (p.Ala1167Val)
c.3512C>T (p.Ala1171Val)
c.3485C>T (p.Ala1162Val)
c.3431C>T (p.Ala1144Val)
c.2831C>T (p.Ala944Val)
c.3779C>T (p.Ala1260Val)
c.3776C>T (p.Ala1259Val)
c.3695C>T (p.Ala1232Val)
c.3626C>T (p.Ala1209Val)
c.3494C>T (p.Ala1165Val)
c.3362C>T (p.Ala1121Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.32436228T>ACA510467303ASXL1c.3516T>A (p.Ala1172=)
c.3333T>A (p.Ala1111=)
n.5869T>A
c.1869+1647T>A (n.1869+1647T>A)
c.3501T>A (p.Ala1167=)
c.3513T>A (p.Ala1171=)
c.3486T>A (p.Ala1162=)
c.3432T>A (p.Ala1144=)
c.2832T>A (p.Ala944=)
c.3780T>A (p.Ala1260=)
c.3777T>A (p.Ala1259=)
c.3696T>A (p.Ala1232=)
c.3627T>A (p.Ala1209=)
c.3495T>A (p.Ala1165=)
c.3363T>A (p.Ala1121=)
20g.32436228T>CCA510467305ASXL1c.3516T>C (p.Ala1172=)
c.3333T>C (p.Ala1111=)
n.5869T>C
c.1869+1647T>C (n.1869+1647T>C)
c.3501T>C (p.Ala1167=)
c.3513T>C (p.Ala1171=)
c.3486T>C (p.Ala1162=)
c.3432T>C (p.Ala1144=)
c.2832T>C (p.Ala944=)
c.3780T>C (p.Ala1260=)
c.3777T>C (p.Ala1259=)
c.3696T>C (p.Ala1232=)
c.3627T>C (p.Ala1209=)
c.3495T>C (p.Ala1165=)
c.3363T>C (p.Ala1121=)
20g.32436228T>GCA313926346ASXL1c.3516T>G (p.Ala1172=)
c.3333T>G (p.Ala1111=)
n.5869T>G
c.1869+1647T>G (n.1869+1647T>G)
c.3501T>G (p.Ala1167=)
c.3513T>G (p.Ala1171=)
c.3486T>G (p.Ala1162=)
c.3432T>G (p.Ala1144=)
c.2832T>G (p.Ala944=)
c.3780T>G (p.Ala1260=)
c.3777T>G (p.Ala1259=)
c.3696T>G (p.Ala1232=)
c.3627T>G (p.Ala1209=)
c.3495T>G (p.Ala1165=)
c.3363T>G (p.Ala1121=)
 ClinVar dbSNP gnomAD v4
20g.32436228T=CA2360293599ASXL1c.3516T= (p.Ala1172=)
c.3333T= (p.Ala1111=)
n.5869T=
c.1869+1647T= (n.1869+1647T=)
c.3501T= (p.Ala1167=)
c.3513T= (p.Ala1171=)
c.3486T= (p.Ala1162=)
c.3432T= (p.Ala1144=)
c.2832T= (p.Ala944=)
c.3780T= (p.Ala1260=)
c.3777T= (p.Ala1259=)
c.3696T= (p.Ala1232=)
c.3627T= (p.Ala1209=)
c.3495T= (p.Ala1165=)
c.3363T= (p.Ala1121=)
20g.32436229T>ACA408563228ASXL1c.3517T>A (p.Leu1173Met)
c.3334T>A (p.Leu1112Met)
n.5870T>A
c.1869+1648T>A (n.1869+1648T>A)
c.3502T>A (p.Leu1168Met)
c.3514T>A (p.Leu1172Met)
c.3487T>A (p.Leu1163Met)
c.3433T>A (p.Leu1145Met)
c.2833T>A (p.Leu945Met)
c.3781T>A (p.Leu1261Met)
c.3778T>A (p.Leu1260Met)
c.3697T>A (p.Leu1233Met)
c.3628T>A (p.Leu1210Met)
c.3496T>A (p.Leu1166Met)
c.3364T>A (p.Leu1122Met)
 gnomAD v4
20g.32436229T>CCA510467306ASXL1c.3517T>C (p.Leu1173=)
c.3334T>C (p.Leu1112=)
n.5870T>C
c.1869+1648T>C (n.1869+1648T>C)
c.3502T>C (p.Leu1168=)
c.3514T>C (p.Leu1172=)
c.3487T>C (p.Leu1163=)
c.3433T>C (p.Leu1145=)
c.2833T>C (p.Leu945=)
c.3781T>C (p.Leu1261=)
c.3778T>C (p.Leu1260=)
c.3697T>C (p.Leu1233=)
c.3628T>C (p.Leu1210=)
c.3496T>C (p.Leu1166=)
c.3364T>C (p.Leu1122=)
20g.32436229T>GCA408563227ASXL1c.3517T>G (p.Leu1173Val)
c.3334T>G (p.Leu1112Val)
n.5870T>G
c.1869+1648T>G (n.1869+1648T>G)
c.3502T>G (p.Leu1168Val)
c.3514T>G (p.Leu1172Val)
c.3487T>G (p.Leu1163Val)
c.3433T>G (p.Leu1145Val)
c.2833T>G (p.Leu945Val)
c.3781T>G (p.Leu1261Val)
c.3778T>G (p.Leu1260Val)
c.3697T>G (p.Leu1233Val)
c.3628T>G (p.Leu1210Val)
c.3496T>G (p.Leu1166Val)
c.3364T>G (p.Leu1122Val)
20g.32436230T>ACA408563229ASXL1c.3518T>A (p.Leu1173Ter)
c.3335T>A (p.Leu1112Ter)
n.5871T>A
c.1869+1649T>A (n.1869+1649T>A)
c.3503T>A (p.Leu1168Ter)
c.3515T>A (p.Leu1172Ter)
c.3488T>A (p.Leu1163Ter)
c.3434T>A (p.Leu1145Ter)
c.2834T>A (p.Leu945Ter)
c.3782T>A (p.Leu1261Ter)
c.3779T>A (p.Leu1260Ter)
c.3698T>A (p.Leu1233Ter)
c.3629T>A (p.Leu1210Ter)
c.3497T>A (p.Leu1166Ter)
c.3365T>A (p.Leu1122Ter)
20g.32436230T>CCA9808843ASXL1c.3518T>C (p.Leu1173Ser)
c.3335T>C (p.Leu1112Ser)
n.5871T>C
c.1869+1649T>C (n.1869+1649T>C)
c.3503T>C (p.Leu1168Ser)
c.3515T>C (p.Leu1172Ser)
c.3488T>C (p.Leu1163Ser)
c.3434T>C (p.Leu1145Ser)
c.2834T>C (p.Leu945Ser)
c.3782T>C (p.Leu1261Ser)
c.3779T>C (p.Leu1260Ser)
c.3698T>C (p.Leu1233Ser)
c.3629T>C (p.Leu1210Ser)
c.3497T>C (p.Leu1166Ser)
c.3365T>C (p.Leu1122Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436230T>GCA408563230ASXL1c.3518T>G (p.Leu1173Trp)
c.3335T>G (p.Leu1112Trp)
n.5871T>G
c.1869+1649T>G (n.1869+1649T>G)
c.3503T>G (p.Leu1168Trp)
c.3515T>G (p.Leu1172Trp)
c.3488T>G (p.Leu1163Trp)
c.3434T>G (p.Leu1145Trp)
c.2834T>G (p.Leu945Trp)
c.3782T>G (p.Leu1261Trp)
c.3779T>G (p.Leu1260Trp)
c.3698T>G (p.Leu1233Trp)
c.3629T>G (p.Leu1210Trp)
c.3497T>G (p.Leu1166Trp)
c.3365T>G (p.Leu1122Trp)
20g.32436230T=CA2360293600ASXL1c.3518T= (p.Leu1173=)
c.3335T= (p.Leu1112=)
n.5871T=
c.1869+1649T= (n.1869+1649T=)
c.3503T= (p.Leu1168=)
c.3515T= (p.Leu1172=)
c.3488T= (p.Leu1163=)
c.3434T= (p.Leu1145=)
c.2834T= (p.Leu945=)
c.3782T= (p.Leu1261=)
c.3779T= (p.Leu1260=)
c.3698T= (p.Leu1233=)
c.3629T= (p.Leu1210=)
c.3497T= (p.Leu1166=)
c.3365T= (p.Leu1122=)
20g.32436231G>ACA9808844ASXL1c.3519G>A (p.Leu1173=)
c.3336G>A (p.Leu1112=)
n.5872G>A
c.1869+1650G>A (n.1869+1650G>A)
c.3504G>A (p.Leu1168=)
c.3516G>A (p.Leu1172=)
c.3489G>A (p.Leu1163=)
c.3435G>A (p.Leu1145=)
c.2835G>A (p.Leu945=)
c.3783G>A (p.Leu1261=)
c.3780G>A (p.Leu1260=)
c.3699G>A (p.Leu1233=)
c.3630G>A (p.Leu1210=)
c.3498G>A (p.Leu1166=)
c.3366G>A (p.Leu1122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436231G>CCA408563231ASXL1c.3519G>C (p.Leu1173Phe)
c.3336G>C (p.Leu1112Phe)
n.5872G>C
c.1869+1650G>C (n.1869+1650G>C)
c.3504G>C (p.Leu1168Phe)
c.3516G>C (p.Leu1172Phe)
c.3489G>C (p.Leu1163Phe)
c.3435G>C (p.Leu1145Phe)
c.2835G>C (p.Leu945Phe)
c.3783G>C (p.Leu1261Phe)
c.3780G>C (p.Leu1260Phe)
c.3699G>C (p.Leu1233Phe)
c.3630G>C (p.Leu1210Phe)
c.3498G>C (p.Leu1166Phe)
c.3366G>C (p.Leu1122Phe)
 COSMIC
20g.32436231G=CA2360293601ASXL1c.3519G= (p.Leu1173=)
c.3336G= (p.Leu1112=)
n.5872G=
c.1869+1650G= (n.1869+1650G=)
c.3504G= (p.Leu1168=)
c.3516G= (p.Leu1172=)
c.3489G= (p.Leu1163=)
c.3435G= (p.Leu1145=)
c.2835G= (p.Leu945=)
c.3783G= (p.Leu1261=)
c.3780G= (p.Leu1260=)
c.3699G= (p.Leu1233=)
c.3630G= (p.Leu1210=)
c.3498G= (p.Leu1166=)
c.3366G= (p.Leu1122=)
20g.32436231G>TCA408563232ASXL1c.3519G>T (p.Leu1173Phe)
c.3336G>T (p.Leu1112Phe)
n.5872G>T
c.1869+1650G>T (n.1869+1650G>T)
c.3504G>T (p.Leu1168Phe)
c.3516G>T (p.Leu1172Phe)
c.3489G>T (p.Leu1163Phe)
c.3435G>T (p.Leu1145Phe)
c.2835G>T (p.Leu945Phe)
c.3783G>T (p.Leu1261Phe)
c.3780G>T (p.Leu1260Phe)
c.3699G>T (p.Leu1233Phe)
c.3630G>T (p.Leu1210Phe)
c.3498G>T (p.Leu1166Phe)
c.3366G>T (p.Leu1122Phe)
20g.32436232A>CCA408563233ASXL1c.3520A>C (p.Lys1174Gln)
c.3337A>C (p.Lys1113Gln)
n.5873A>C
c.1869+1651A>C (n.1869+1651A>C)
c.3505A>C (p.Lys1169Gln)
c.3517A>C (p.Lys1173Gln)
c.3490A>C (p.Lys1164Gln)
c.3436A>C (p.Lys1146Gln)
c.2836A>C (p.Lys946Gln)
c.3784A>C (p.Lys1262Gln)
c.3781A>C (p.Lys1261Gln)
c.3700A>C (p.Lys1234Gln)
c.3631A>C (p.Lys1211Gln)
c.3499A>C (p.Lys1167Gln)
c.3367A>C (p.Lys1123Gln)
20g.32436232A>GCA408563234ASXL1c.3520A>G (p.Lys1174Glu)
c.3337A>G (p.Lys1113Glu)
n.5873A>G
c.1869+1651A>G (n.1869+1651A>G)
c.3505A>G (p.Lys1169Glu)
c.3517A>G (p.Lys1173Glu)
c.3490A>G (p.Lys1164Glu)
c.3436A>G (p.Lys1146Glu)
c.2836A>G (p.Lys946Glu)
c.3784A>G (p.Lys1262Glu)
c.3781A>G (p.Lys1261Glu)
c.3700A>G (p.Lys1234Glu)
c.3631A>G (p.Lys1211Glu)
c.3499A>G (p.Lys1167Glu)
c.3367A>G (p.Lys1123Glu)
20g.32436232A>TCA408563235ASXL1c.3520A>T (p.Lys1174Ter)
c.3337A>T (p.Lys1113Ter)
n.5873A>T
c.1869+1651A>T (n.1869+1651A>T)
c.3505A>T (p.Lys1169Ter)
c.3517A>T (p.Lys1173Ter)
c.3490A>T (p.Lys1164Ter)
c.3436A>T (p.Lys1146Ter)
c.2836A>T (p.Lys946Ter)
c.3784A>T (p.Lys1262Ter)
c.3781A>T (p.Lys1261Ter)
c.3700A>T (p.Lys1234Ter)
c.3631A>T (p.Lys1211Ter)
c.3499A>T (p.Lys1167Ter)
c.3367A>T (p.Lys1123Ter)
20g.32436233A>CCA408563236ASXL1c.3521A>C (p.Lys1174Thr)
c.3338A>C (p.Lys1113Thr)
n.5874A>C
c.1869+1652A>C (n.1869+1652A>C)
c.3506A>C (p.Lys1169Thr)
c.3518A>C (p.Lys1173Thr)
c.3491A>C (p.Lys1164Thr)
c.3437A>C (p.Lys1146Thr)
c.2837A>C (p.Lys946Thr)
c.3785A>C (p.Lys1262Thr)
c.3782A>C (p.Lys1261Thr)
c.3701A>C (p.Lys1234Thr)
c.3632A>C (p.Lys1211Thr)
c.3500A>C (p.Lys1167Thr)
c.3368A>C (p.Lys1123Thr)
20g.32436233A>GCA408563237ASXL1c.3521A>G (p.Lys1174Arg)
c.3338A>G (p.Lys1113Arg)
n.5874A>G
c.1869+1652A>G (n.1869+1652A>G)
c.3506A>G (p.Lys1169Arg)
c.3518A>G (p.Lys1173Arg)
c.3491A>G (p.Lys1164Arg)
c.3437A>G (p.Lys1146Arg)
c.2837A>G (p.Lys946Arg)
c.3785A>G (p.Lys1262Arg)
c.3782A>G (p.Lys1261Arg)
c.3701A>G (p.Lys1234Arg)
c.3632A>G (p.Lys1211Arg)
c.3500A>G (p.Lys1167Arg)
c.3368A>G (p.Lys1123Arg)
20g.32436233A>TCA408563238ASXL1c.3521A>T (p.Lys1174Met)
c.3338A>T (p.Lys1113Met)
n.5874A>T
c.1869+1652A>T (n.1869+1652A>T)
c.3506A>T (p.Lys1169Met)
c.3518A>T (p.Lys1173Met)
c.3491A>T (p.Lys1164Met)
c.3437A>T (p.Lys1146Met)
c.2837A>T (p.Lys946Met)
c.3785A>T (p.Lys1262Met)
c.3782A>T (p.Lys1261Met)
c.3701A>T (p.Lys1234Met)
c.3632A>T (p.Lys1211Met)
c.3500A>T (p.Lys1167Met)
c.3368A>T (p.Lys1123Met)
20g.32436234G>ACA9808846ASXL1c.3522G>A (p.Lys1174=)
c.3339G>A (p.Lys1113=)
n.5875G>A
c.1869+1653G>A (n.1869+1653G>A)
c.3507G>A (p.Lys1169=)
c.3519G>A (p.Lys1173=)
c.3492G>A (p.Lys1164=)
c.3438G>A (p.Lys1146=)
c.2838G>A (p.Lys946=)
c.3786G>A (p.Lys1262=)
c.3783G>A (p.Lys1261=)
c.3702G>A (p.Lys1234=)
c.3633G>A (p.Lys1211=)
c.3501G>A (p.Lys1167=)
c.3369G>A (p.Lys1123=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436234G>CCA9808845ASXL1c.3522G>C (p.Lys1174Asn)
c.3339G>C (p.Lys1113Asn)
n.5875G>C
c.1869+1653G>C (n.1869+1653G>C)
c.3507G>C (p.Lys1169Asn)
c.3519G>C (p.Lys1173Asn)
c.3492G>C (p.Lys1164Asn)
c.3438G>C (p.Lys1146Asn)
c.2838G>C (p.Lys946Asn)
c.3786G>C (p.Lys1262Asn)
c.3783G>C (p.Lys1261Asn)
c.3702G>C (p.Lys1234Asn)
c.3633G>C (p.Lys1211Asn)
c.3501G>C (p.Lys1167Asn)
c.3369G>C (p.Lys1123Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436234G=CA2360293602ASXL1c.3522G= (p.Lys1174=)
c.3339G= (p.Lys1113=)
n.5875G=
c.1869+1653G= (n.1869+1653G=)
c.3507G= (p.Lys1169=)
c.3519G= (p.Lys1173=)
c.3492G= (p.Lys1164=)
c.3438G= (p.Lys1146=)
c.2838G= (p.Lys946=)
c.3786G= (p.Lys1262=)
c.3783G= (p.Lys1261=)
c.3702G= (p.Lys1234=)
c.3633G= (p.Lys1211=)
c.3501G= (p.Lys1167=)
c.3369G= (p.Lys1123=)
20g.32436234G>TCA408563240ASXL1c.3522G>T (p.Lys1174Asn)
c.3339G>T (p.Lys1113Asn)
n.5875G>T
c.1869+1653G>T (n.1869+1653G>T)
c.3507G>T (p.Lys1169Asn)
c.3519G>T (p.Lys1173Asn)
c.3492G>T (p.Lys1164Asn)
c.3438G>T (p.Lys1146Asn)
c.2838G>T (p.Lys946Asn)
c.3786G>T (p.Lys1262Asn)
c.3783G>T (p.Lys1261Asn)
c.3702G>T (p.Lys1234Asn)
c.3633G>T (p.Lys1211Asn)
c.3501G>T (p.Lys1167Asn)
c.3369G>T (p.Lys1123Asn)
20g.32436235G>ACA408563243ASXL1c.3523G>A (p.Glu1175Lys)
c.3340G>A (p.Glu1114Lys)
n.5876G>A
c.1869+1654G>A (n.1869+1654G>A)
c.3508G>A (p.Glu1170Lys)
c.3520G>A (p.Glu1174Lys)
c.3493G>A (p.Glu1165Lys)
c.3439G>A (p.Glu1147Lys)
c.2839G>A (p.Glu947Lys)
c.3787G>A (p.Glu1263Lys)
c.3784G>A (p.Glu1262Lys)
c.3703G>A (p.Glu1235Lys)
c.3634G>A (p.Glu1212Lys)
c.3502G>A (p.Glu1168Lys)
c.3370G>A (p.Glu1124Lys)
 dbSNP
20g.32436235G>CCA408563241ASXL1c.3523G>C (p.Glu1175Gln)
c.3340G>C (p.Glu1114Gln)
n.5876G>C
c.1869+1654G>C (n.1869+1654G>C)
c.3508G>C (p.Glu1170Gln)
c.3520G>C (p.Glu1174Gln)
c.3493G>C (p.Glu1165Gln)
c.3439G>C (p.Glu1147Gln)
c.2839G>C (p.Glu947Gln)
c.3787G>C (p.Glu1263Gln)
c.3784G>C (p.Glu1262Gln)
c.3703G>C (p.Glu1235Gln)
c.3634G>C (p.Glu1212Gln)
c.3502G>C (p.Glu1168Gln)
c.3370G>C (p.Glu1124Gln)
20g.32436235G=CA2360293603ASXL1c.3523G= (p.Glu1175=)
c.3340G= (p.Glu1114=)
n.5876G=
c.1869+1654G= (n.1869+1654G=)
c.3508G= (p.Glu1170=)
c.3520G= (p.Glu1174=)
c.3493G= (p.Glu1165=)
c.3439G= (p.Glu1147=)
c.2839G= (p.Glu947=)
c.3787G= (p.Glu1263=)
c.3784G= (p.Glu1262=)
c.3703G= (p.Glu1235=)
c.3634G= (p.Glu1212=)
c.3502G= (p.Glu1168=)
c.3370G= (p.Glu1124=)
20g.32436235G>TCA408563242ASXL1c.3523G>T (p.Glu1175Ter)
c.3340G>T (p.Glu1114Ter)
n.5876G>T
c.1869+1654G>T (n.1869+1654G>T)
c.3508G>T (p.Glu1170Ter)
c.3520G>T (p.Glu1174Ter)
c.3493G>T (p.Glu1165Ter)
c.3439G>T (p.Glu1147Ter)
c.2839G>T (p.Glu947Ter)
c.3787G>T (p.Glu1263Ter)
c.3784G>T (p.Glu1262Ter)
c.3703G>T (p.Glu1235Ter)
c.3634G>T (p.Glu1212Ter)
c.3502G>T (p.Glu1168Ter)
c.3370G>T (p.Glu1124Ter)
20g.32436236A>CCA408563244ASXL1c.3524A>C (p.Glu1175Ala)
c.3341A>C (p.Glu1114Ala)
n.5877A>C
c.1869+1655A>C (n.1869+1655A>C)
c.3509A>C (p.Glu1170Ala)
c.3521A>C (p.Glu1174Ala)
c.3494A>C (p.Glu1165Ala)
c.3440A>C (p.Glu1147Ala)
c.2840A>C (p.Glu947Ala)
c.3788A>C (p.Glu1263Ala)
c.3785A>C (p.Glu1262Ala)
c.3704A>C (p.Glu1235Ala)
c.3635A>C (p.Glu1212Ala)
c.3503A>C (p.Glu1168Ala)
c.3371A>C (p.Glu1124Ala)
20g.32436236A>GCA408563245ASXL1c.3524A>G (p.Glu1175Gly)
c.3341A>G (p.Glu1114Gly)
n.5877A>G
c.1869+1655A>G (n.1869+1655A>G)
c.3509A>G (p.Glu1170Gly)
c.3521A>G (p.Glu1174Gly)
c.3494A>G (p.Glu1165Gly)
c.3440A>G (p.Glu1147Gly)
c.2840A>G (p.Glu947Gly)
c.3788A>G (p.Glu1263Gly)
c.3785A>G (p.Glu1262Gly)
c.3704A>G (p.Glu1235Gly)
c.3635A>G (p.Glu1212Gly)
c.3503A>G (p.Glu1168Gly)
c.3371A>G (p.Glu1124Gly)
 dbSNP
20g.32436236A>TCA408563246ASXL1c.3524A>T (p.Glu1175Val)
c.3341A>T (p.Glu1114Val)
n.5877A>T
c.1869+1655A>T (n.1869+1655A>T)
c.3509A>T (p.Glu1170Val)
c.3521A>T (p.Glu1174Val)
c.3494A>T (p.Glu1165Val)
c.3440A>T (p.Glu1147Val)
c.2840A>T (p.Glu947Val)
c.3788A>T (p.Glu1263Val)
c.3785A>T (p.Glu1262Val)
c.3704A>T (p.Glu1235Val)
c.3635A>T (p.Glu1212Val)
c.3503A>T (p.Glu1168Val)
c.3371A>T (p.Glu1124Val)
20g.32436237G>ACA510467315ASXL1c.3525G>A (p.Glu1175=)
c.3342G>A (p.Glu1114=)
n.5878G>A
c.1869+1656G>A (n.1869+1656G>A)
c.3510G>A (p.Glu1170=)
c.3522G>A (p.Glu1174=)
c.3495G>A (p.Glu1165=)
c.3441G>A (p.Glu1147=)
c.2841G>A (p.Glu947=)
c.3789G>A (p.Glu1263=)
c.3786G>A (p.Glu1262=)
c.3705G>A (p.Glu1235=)
c.3636G>A (p.Glu1212=)
c.3504G>A (p.Glu1168=)
c.3372G>A (p.Glu1124=)
 dbSNP
20g.32436237G>CCA408563247ASXL1c.3525G>C (p.Glu1175Asp)
c.3342G>C (p.Glu1114Asp)
n.5878G>C
c.1869+1656G>C (n.1869+1656G>C)
c.3510G>C (p.Glu1170Asp)
c.3522G>C (p.Glu1174Asp)
c.3495G>C (p.Glu1165Asp)
c.3441G>C (p.Glu1147Asp)
c.2841G>C (p.Glu947Asp)
c.3789G>C (p.Glu1263Asp)
c.3786G>C (p.Glu1262Asp)
c.3705G>C (p.Glu1235Asp)
c.3636G>C (p.Glu1212Asp)
c.3504G>C (p.Glu1168Asp)
c.3372G>C (p.Glu1124Asp)
20g.32436237G=CA2360293604ASXL1c.3525G= (p.Glu1175=)
c.3342G= (p.Glu1114=)
n.5878G=
c.1869+1656G= (n.1869+1656G=)
c.3510G= (p.Glu1170=)
c.3522G= (p.Glu1174=)
c.3495G= (p.Glu1165=)
c.3441G= (p.Glu1147=)
c.2841G= (p.Glu947=)
c.3789G= (p.Glu1263=)
c.3786G= (p.Glu1262=)
c.3705G= (p.Glu1235=)
c.3636G= (p.Glu1212=)
c.3504G= (p.Glu1168=)
c.3372G= (p.Glu1124=)
20g.32436237G>TCA408563248ASXL1c.3525G>T (p.Glu1175Asp)
c.3342G>T (p.Glu1114Asp)
n.5878G>T
c.1869+1656G>T (n.1869+1656G>T)
c.3510G>T (p.Glu1170Asp)
c.3522G>T (p.Glu1174Asp)
c.3495G>T (p.Glu1165Asp)
c.3441G>T (p.Glu1147Asp)
c.2841G>T (p.Glu947Asp)
c.3789G>T (p.Glu1263Asp)
c.3786G>T (p.Glu1262Asp)
c.3705G>T (p.Glu1235Asp)
c.3636G>T (p.Glu1212Asp)
c.3504G>T (p.Glu1168Asp)
c.3372G>T (p.Glu1124Asp)
 dbSNP
20g.32436238C>ACA408563249ASXL1c.3526C>A (p.Pro1176Thr)
c.3343C>A (p.Pro1115Thr)
n.5879C>A
c.1869+1657C>A (n.1869+1657C>A)
c.3511C>A (p.Pro1171Thr)
c.3523C>A (p.Pro1175Thr)
c.3496C>A (p.Pro1166Thr)
c.3442C>A (p.Pro1148Thr)
c.2842C>A (p.Pro948Thr)
c.3790C>A (p.Pro1264Thr)
c.3787C>A (p.Pro1263Thr)
c.3706C>A (p.Pro1236Thr)
c.3637C>A (p.Pro1213Thr)
c.3505C>A (p.Pro1169Thr)
c.3373C>A (p.Pro1125Thr)
 dbSNP
20g.32436238C=CA2360293605ASXL1c.3526C= (p.Pro1176=)
c.3343C= (p.Pro1115=)
n.5879C=
c.1869+1657C= (n.1869+1657C=)
c.3511C= (p.Pro1171=)
c.3523C= (p.Pro1175=)
c.3496C= (p.Pro1166=)
c.3442C= (p.Pro1148=)
c.2842C= (p.Pro948=)
c.3790C= (p.Pro1264=)
c.3787C= (p.Pro1263=)
c.3706C= (p.Pro1236=)
c.3637C= (p.Pro1213=)
c.3505C= (p.Pro1169=)
c.3373C= (p.Pro1125=)
20g.32436238C>GCA408563250ASXL1c.3526C>G (p.Pro1176Ala)
c.3343C>G (p.Pro1115Ala)
n.5879C>G
c.1869+1657C>G (n.1869+1657C>G)
c.3511C>G (p.Pro1171Ala)
c.3523C>G (p.Pro1175Ala)
c.3496C>G (p.Pro1166Ala)
c.3442C>G (p.Pro1148Ala)
c.2842C>G (p.Pro948Ala)
c.3790C>G (p.Pro1264Ala)
c.3787C>G (p.Pro1263Ala)
c.3706C>G (p.Pro1236Ala)
c.3637C>G (p.Pro1213Ala)
c.3505C>G (p.Pro1169Ala)
c.3373C>G (p.Pro1125Ala)
20g.32436238C>TCA408563251ASXL1c.3526C>T (p.Pro1176Ser)
c.3343C>T (p.Pro1115Ser)
n.5879C>T
c.1869+1657C>T (n.1869+1657C>T)
c.3511C>T (p.Pro1171Ser)
c.3523C>T (p.Pro1175Ser)
c.3496C>T (p.Pro1166Ser)
c.3442C>T (p.Pro1148Ser)
c.2842C>T (p.Pro948Ser)
c.3790C>T (p.Pro1264Ser)
c.3787C>T (p.Pro1263Ser)
c.3706C>T (p.Pro1236Ser)
c.3637C>T (p.Pro1213Ser)
c.3505C>T (p.Pro1169Ser)
c.3373C>T (p.Pro1125Ser)
 dbSNP
20g.32436239C>ACA408563252ASXL1c.3527C>A (p.Pro1176His)
c.3344C>A (p.Pro1115His)
n.5880C>A
c.1869+1658C>A (n.1869+1658C>A)
c.3512C>A (p.Pro1171His)
c.3524C>A (p.Pro1175His)
c.3497C>A (p.Pro1166His)
c.3443C>A (p.Pro1148His)
c.2843C>A (p.Pro948His)
c.3791C>A (p.Pro1264His)
c.3788C>A (p.Pro1263His)
c.3707C>A (p.Pro1236His)
c.3638C>A (p.Pro1213His)
c.3506C>A (p.Pro1169His)
c.3374C>A (p.Pro1125His)
20g.32436239C>GCA408563253ASXL1c.3527C>G (p.Pro1176Arg)
c.3344C>G (p.Pro1115Arg)
n.5880C>G
c.1869+1658C>G (n.1869+1658C>G)
c.3512C>G (p.Pro1171Arg)
c.3524C>G (p.Pro1175Arg)
c.3497C>G (p.Pro1166Arg)
c.3443C>G (p.Pro1148Arg)
c.2843C>G (p.Pro948Arg)
c.3791C>G (p.Pro1264Arg)
c.3788C>G (p.Pro1263Arg)
c.3707C>G (p.Pro1236Arg)
c.3638C>G (p.Pro1213Arg)
c.3506C>G (p.Pro1169Arg)
c.3374C>G (p.Pro1125Arg)
20g.32436239C>TCA408563254ASXL1c.3527C>T (p.Pro1176Leu)
c.3344C>T (p.Pro1115Leu)
n.5880C>T
c.1869+1658C>T (n.1869+1658C>T)
c.3512C>T (p.Pro1171Leu)
c.3524C>T (p.Pro1175Leu)
c.3497C>T (p.Pro1166Leu)
c.3443C>T (p.Pro1148Leu)
c.2843C>T (p.Pro948Leu)
c.3791C>T (p.Pro1264Leu)
c.3788C>T (p.Pro1263Leu)
c.3707C>T (p.Pro1236Leu)
c.3638C>T (p.Pro1213Leu)
c.3506C>T (p.Pro1169Leu)
c.3374C>T (p.Pro1125Leu)
 gnomAD v4
20g.32436240T>ACA510467320ASXL1c.3528T>A (p.Pro1176=)
c.3345T>A (p.Pro1115=)
n.5881T>A
c.1869+1659T>A (n.1869+1659T>A)
c.3513T>A (p.Pro1171=)
c.3525T>A (p.Pro1175=)
c.3498T>A (p.Pro1166=)
c.3444T>A (p.Pro1148=)
c.2844T>A (p.Pro948=)
c.3792T>A (p.Pro1264=)
c.3789T>A (p.Pro1263=)
c.3708T>A (p.Pro1236=)
c.3639T>A (p.Pro1213=)
c.3507T>A (p.Pro1169=)
c.3375T>A (p.Pro1125=)
20g.32436240T>CCA510467322ASXL1c.3528T>C (p.Pro1176=)
c.3345T>C (p.Pro1115=)
n.5881T>C
c.1869+1659T>C (n.1869+1659T>C)
c.3513T>C (p.Pro1171=)
c.3525T>C (p.Pro1175=)
c.3498T>C (p.Pro1166=)
c.3444T>C (p.Pro1148=)
c.2844T>C (p.Pro948=)
c.3792T>C (p.Pro1264=)
c.3789T>C (p.Pro1263=)
c.3708T>C (p.Pro1236=)
c.3639T>C (p.Pro1213=)
c.3507T>C (p.Pro1169=)
c.3375T>C (p.Pro1125=)
 gnomAD v4
20g.32436240T>GCA510467323ASXL1c.3528T>G (p.Pro1176=)
c.3345T>G (p.Pro1115=)
n.5881T>G
c.1869+1659T>G (n.1869+1659T>G)
c.3513T>G (p.Pro1171=)
c.3525T>G (p.Pro1175=)
c.3498T>G (p.Pro1166=)
c.3444T>G (p.Pro1148=)
c.2844T>G (p.Pro948=)
c.3792T>G (p.Pro1264=)
c.3789T>G (p.Pro1263=)
c.3708T>G (p.Pro1236=)
c.3639T>G (p.Pro1213=)
c.3507T>G (p.Pro1169=)
c.3375T>G (p.Pro1125=)
20g.32436241C>ACA408563257ASXL1c.3529C>A (p.Leu1177Ile)
c.3346C>A (p.Leu1116Ile)
n.5882C>A
c.1869+1660C>A (n.1869+1660C>A)
c.3514C>A (p.Leu1172Ile)
c.3526C>A (p.Leu1176Ile)
c.3499C>A (p.Leu1167Ile)
c.3445C>A (p.Leu1149Ile)
c.2845C>A (p.Leu949Ile)
c.3793C>A (p.Leu1265Ile)
c.3790C>A (p.Leu1264Ile)
c.3709C>A (p.Leu1237Ile)
c.3640C>A (p.Leu1214Ile)
c.3508C>A (p.Leu1170Ile)
c.3376C>A (p.Leu1126Ile)
20g.32436241C>GCA408563256ASXL1c.3529C>G (p.Leu1177Val)
c.3346C>G (p.Leu1116Val)
n.5882C>G
c.1869+1660C>G (n.1869+1660C>G)
c.3514C>G (p.Leu1172Val)
c.3526C>G (p.Leu1176Val)
c.3499C>G (p.Leu1167Val)
c.3445C>G (p.Leu1149Val)
c.2845C>G (p.Leu949Val)
c.3793C>G (p.Leu1265Val)
c.3790C>G (p.Leu1264Val)
c.3709C>G (p.Leu1237Val)
c.3640C>G (p.Leu1214Val)
c.3508C>G (p.Leu1170Val)
c.3376C>G (p.Leu1126Val)
20g.32436241C>TCA408563255ASXL1c.3529C>T (p.Leu1177Phe)
c.3346C>T (p.Leu1116Phe)
n.5882C>T
c.1869+1660C>T (n.1869+1660C>T)
c.3514C>T (p.Leu1172Phe)
c.3526C>T (p.Leu1176Phe)
c.3499C>T (p.Leu1167Phe)
c.3445C>T (p.Leu1149Phe)
c.2845C>T (p.Leu949Phe)
c.3793C>T (p.Leu1265Phe)
c.3790C>T (p.Leu1264Phe)
c.3709C>T (p.Leu1237Phe)
c.3640C>T (p.Leu1214Phe)
c.3508C>T (p.Leu1170Phe)
c.3376C>T (p.Leu1126Phe)
 gnomAD v4
20g.32436242T>ACA408563258ASXL1c.3530T>A (p.Leu1177His)
c.3347T>A (p.Leu1116His)
n.5883T>A
c.1869+1661T>A (n.1869+1661T>A)
c.3515T>A (p.Leu1172His)
c.3527T>A (p.Leu1176His)
c.3500T>A (p.Leu1167His)
c.3446T>A (p.Leu1149His)
c.2846T>A (p.Leu949His)
c.3794T>A (p.Leu1265His)
c.3791T>A (p.Leu1264His)
c.3710T>A (p.Leu1237His)
c.3641T>A (p.Leu1214His)
c.3509T>A (p.Leu1170His)
c.3377T>A (p.Leu1126His)
20g.32436242T>CCA408563259ASXL1c.3530T>C (p.Leu1177Pro)
c.3347T>C (p.Leu1116Pro)
n.5883T>C
c.1869+1661T>C (n.1869+1661T>C)
c.3515T>C (p.Leu1172Pro)
c.3527T>C (p.Leu1176Pro)
c.3500T>C (p.Leu1167Pro)
c.3446T>C (p.Leu1149Pro)
c.2846T>C (p.Leu949Pro)
c.3794T>C (p.Leu1265Pro)
c.3791T>C (p.Leu1264Pro)
c.3710T>C (p.Leu1237Pro)
c.3641T>C (p.Leu1214Pro)
c.3509T>C (p.Leu1170Pro)
c.3377T>C (p.Leu1126Pro)
20g.32436242T>GCA408563260ASXL1c.3530T>G (p.Leu1177Arg)
c.3347T>G (p.Leu1116Arg)
n.5883T>G
c.1869+1661T>G (n.1869+1661T>G)
c.3515T>G (p.Leu1172Arg)
c.3527T>G (p.Leu1176Arg)
c.3500T>G (p.Leu1167Arg)
c.3446T>G (p.Leu1149Arg)
c.2846T>G (p.Leu949Arg)
c.3794T>G (p.Leu1265Arg)
c.3791T>G (p.Leu1264Arg)
c.3710T>G (p.Leu1237Arg)
c.3641T>G (p.Leu1214Arg)
c.3509T>G (p.Leu1170Arg)
c.3377T>G (p.Leu1126Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436242T=CA2360293606ASXL1c.3530T= (p.Leu1177=)
c.3347T= (p.Leu1116=)
n.5883T=
c.1869+1661T= (n.1869+1661T=)
c.3515T= (p.Leu1172=)
c.3527T= (p.Leu1176=)
c.3500T= (p.Leu1167=)
c.3446T= (p.Leu1149=)
c.2846T= (p.Leu949=)
c.3794T= (p.Leu1265=)
c.3791T= (p.Leu1264=)
c.3710T= (p.Leu1237=)
c.3641T= (p.Leu1214=)
c.3509T= (p.Leu1170=)
c.3377T= (p.Leu1126=)
20g.32436243T>ACA510467324ASXL1c.3531T>A (p.Leu1177=)
c.3348T>A (p.Leu1116=)
n.5884T>A
c.1869+1662T>A (n.1869+1662T>A)
c.3516T>A (p.Leu1172=)
c.3528T>A (p.Leu1176=)
c.3501T>A (p.Leu1167=)
c.3447T>A (p.Leu1149=)
c.2847T>A (p.Leu949=)
c.3795T>A (p.Leu1265=)
c.3792T>A (p.Leu1264=)
c.3711T>A (p.Leu1237=)
c.3642T>A (p.Leu1214=)
c.3510T>A (p.Leu1170=)
c.3378T>A (p.Leu1126=)
20g.32436243T>CCA313926347ASXL1c.3531T>C (p.Leu1177=)
c.3348T>C (p.Leu1116=)
n.5884T>C
c.1869+1662T>C (n.1869+1662T>C)
c.3516T>C (p.Leu1172=)
c.3528T>C (p.Leu1176=)
c.3501T>C (p.Leu1167=)
c.3447T>C (p.Leu1149=)
c.2847T>C (p.Leu949=)
c.3795T>C (p.Leu1265=)
c.3792T>C (p.Leu1264=)
c.3711T>C (p.Leu1237=)
c.3642T>C (p.Leu1214=)
c.3510T>C (p.Leu1170=)
c.3378T>C (p.Leu1126=)
 dbSNP gnomAD v4
20g.32436243T>GCA510467326ASXL1c.3531T>G (p.Leu1177=)
c.3348T>G (p.Leu1116=)
n.5884T>G
c.1869+1662T>G (n.1869+1662T>G)
c.3516T>G (p.Leu1172=)
c.3528T>G (p.Leu1176=)
c.3501T>G (p.Leu1167=)
c.3447T>G (p.Leu1149=)
c.2847T>G (p.Leu949=)
c.3795T>G (p.Leu1265=)
c.3792T>G (p.Leu1264=)
c.3711T>G (p.Leu1237=)
c.3642T>G (p.Leu1214=)
c.3510T>G (p.Leu1170=)
c.3378T>G (p.Leu1126=)
20g.32436243T=CA2360293607ASXL1c.3531T= (p.Leu1177=)
c.3348T= (p.Leu1116=)
n.5884T=
c.1869+1662T= (n.1869+1662T=)
c.3516T= (p.Leu1172=)
c.3528T= (p.Leu1176=)
c.3501T= (p.Leu1167=)
c.3447T= (p.Leu1149=)
c.2847T= (p.Leu949=)
c.3795T= (p.Leu1265=)
c.3792T= (p.Leu1264=)
c.3711T= (p.Leu1237=)
c.3642T= (p.Leu1214=)
c.3510T= (p.Leu1170=)
c.3378T= (p.Leu1126=)
20g.32436244C>ACA408563261ASXL1c.3532C>A (p.Leu1178Met)
c.3349C>A (p.Leu1117Met)
n.5885C>A
c.1869+1663C>A (n.1869+1663C>A)
c.3517C>A (p.Leu1173Met)
c.3529C>A (p.Leu1177Met)
c.3502C>A (p.Leu1168Met)
c.3448C>A (p.Leu1150Met)
c.2848C>A (p.Leu950Met)
c.3796C>A (p.Leu1266Met)
c.3793C>A (p.Leu1265Met)
c.3712C>A (p.Leu1238Met)
c.3643C>A (p.Leu1215Met)
c.3511C>A (p.Leu1171Met)
c.3379C>A (p.Leu1127Met)
 dbSNP
20g.32436244C>GCA408563262ASXL1c.3532C>G (p.Leu1178Val)
c.3349C>G (p.Leu1117Val)
n.5885C>G
c.1869+1663C>G (n.1869+1663C>G)
c.3517C>G (p.Leu1173Val)
c.3529C>G (p.Leu1177Val)
c.3502C>G (p.Leu1168Val)
c.3448C>G (p.Leu1150Val)
c.2848C>G (p.Leu950Val)
c.3796C>G (p.Leu1266Val)
c.3793C>G (p.Leu1265Val)
c.3712C>G (p.Leu1238Val)
c.3643C>G (p.Leu1215Val)
c.3511C>G (p.Leu1171Val)
c.3379C>G (p.Leu1127Val)
20g.32436244C>TCA510467327ASXL1c.3532C>T (p.Leu1178=)
c.3349C>T (p.Leu1117=)
n.5885C>T
c.1869+1663C>T (n.1869+1663C>T)
c.3517C>T (p.Leu1173=)
c.3529C>T (p.Leu1177=)
c.3502C>T (p.Leu1168=)
c.3448C>T (p.Leu1150=)
c.2848C>T (p.Leu950=)
c.3796C>T (p.Leu1266=)
c.3793C>T (p.Leu1265=)
c.3712C>T (p.Leu1238=)
c.3643C>T (p.Leu1215=)
c.3511C>T (p.Leu1171=)
c.3379C>T (p.Leu1127=)
 dbSNP
20g.32436245T>ACA408563263ASXL1c.3533T>A (p.Leu1178Gln)
c.3350T>A (p.Leu1117Gln)
n.5886T>A
c.1869+1664T>A (n.1869+1664T>A)
c.3518T>A (p.Leu1173Gln)
c.3530T>A (p.Leu1177Gln)
c.3503T>A (p.Leu1168Gln)
c.3449T>A (p.Leu1150Gln)
c.2849T>A (p.Leu950Gln)
c.3797T>A (p.Leu1266Gln)
c.3794T>A (p.Leu1265Gln)
c.3713T>A (p.Leu1238Gln)
c.3644T>A (p.Leu1215Gln)
c.3512T>A (p.Leu1171Gln)
c.3380T>A (p.Leu1127Gln)
20g.32436245T>CCA408563264ASXL1c.3533T>C (p.Leu1178Pro)
c.3350T>C (p.Leu1117Pro)
n.5886T>C
c.1869+1664T>C (n.1869+1664T>C)
c.3518T>C (p.Leu1173Pro)
c.3530T>C (p.Leu1177Pro)
c.3503T>C (p.Leu1168Pro)
c.3449T>C (p.Leu1150Pro)
c.2849T>C (p.Leu950Pro)
c.3797T>C (p.Leu1266Pro)
c.3794T>C (p.Leu1265Pro)
c.3713T>C (p.Leu1238Pro)
c.3644T>C (p.Leu1215Pro)
c.3512T>C (p.Leu1171Pro)
c.3380T>C (p.Leu1127Pro)
20g.32436245T>GCA408563265ASXL1c.3533T>G (p.Leu1178Arg)
c.3350T>G (p.Leu1117Arg)
n.5886T>G
c.1869+1664T>G (n.1869+1664T>G)
c.3518T>G (p.Leu1173Arg)
c.3530T>G (p.Leu1177Arg)
c.3503T>G (p.Leu1168Arg)
c.3449T>G (p.Leu1150Arg)
c.2849T>G (p.Leu950Arg)
c.3797T>G (p.Leu1266Arg)
c.3794T>G (p.Leu1265Arg)
c.3713T>G (p.Leu1238Arg)
c.3644T>G (p.Leu1215Arg)
c.3512T>G (p.Leu1171Arg)
c.3380T>G (p.Leu1127Arg)
20g.32436246G>ACA510467328ASXL1c.3534G>A (p.Leu1178=)
c.3351G>A (p.Leu1117=)
n.5887G>A
c.1869+1665G>A (n.1869+1665G>A)
c.3519G>A (p.Leu1173=)
c.3531G>A (p.Leu1177=)
c.3504G>A (p.Leu1168=)
c.3450G>A (p.Leu1150=)
c.2850G>A (p.Leu950=)
c.3798G>A (p.Leu1266=)
c.3795G>A (p.Leu1265=)
c.3714G>A (p.Leu1238=)
c.3645G>A (p.Leu1215=)
c.3513G>A (p.Leu1171=)
c.3381G>A (p.Leu1127=)
 dbSNP gnomAD v4
20g.32436246G>CCA510467329ASXL1c.3534G>C (p.Leu1178=)
c.3351G>C (p.Leu1117=)
n.5887G>C
c.1869+1665G>C (n.1869+1665G>C)
c.3519G>C (p.Leu1173=)
c.3531G>C (p.Leu1177=)
c.3504G>C (p.Leu1168=)
c.3450G>C (p.Leu1150=)
c.2850G>C (p.Leu950=)
c.3798G>C (p.Leu1266=)
c.3795G>C (p.Leu1265=)
c.3714G>C (p.Leu1238=)
c.3645G>C (p.Leu1215=)
c.3513G>C (p.Leu1171=)
c.3381G>C (p.Leu1127=)
20g.32436246G=CA2360293608ASXL1c.3534G= (p.Leu1178=)
c.3351G= (p.Leu1117=)
n.5887G=
c.1869+1665G= (n.1869+1665G=)
c.3519G= (p.Leu1173=)
c.3531G= (p.Leu1177=)
c.3504G= (p.Leu1168=)
c.3450G= (p.Leu1150=)
c.2850G= (p.Leu950=)
c.3798G= (p.Leu1266=)
c.3795G= (p.Leu1265=)
c.3714G= (p.Leu1238=)
c.3645G= (p.Leu1215=)
c.3513G= (p.Leu1171=)
c.3381G= (p.Leu1127=)
20g.32436246G>TCA510467330ASXL1c.3534G>T (p.Leu1178=)
c.3351G>T (p.Leu1117=)
n.5887G>T
c.1869+1665G>T (n.1869+1665G>T)
c.3519G>T (p.Leu1173=)
c.3531G>T (p.Leu1177=)
c.3504G>T (p.Leu1168=)
c.3450G>T (p.Leu1150=)
c.2850G>T (p.Leu950=)
c.3798G>T (p.Leu1266=)
c.3795G>T (p.Leu1265=)
c.3714G>T (p.Leu1238=)
c.3645G>T (p.Leu1215=)
c.3513G>T (p.Leu1171=)
c.3381G>T (p.Leu1127=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436247C>ACA408563266ASXL1c.3535C>A (p.Pro1179Thr)
c.3352C>A (p.Pro1118Thr)
n.5888C>A
c.1869+1666C>A (n.1869+1666C>A)
c.3520C>A (p.Pro1174Thr)
c.3532C>A (p.Pro1178Thr)
c.3505C>A (p.Pro1169Thr)
c.3451C>A (p.Pro1151Thr)
c.2851C>A (p.Pro951Thr)
c.3799C>A (p.Pro1267Thr)
c.3796C>A (p.Pro1266Thr)
c.3715C>A (p.Pro1239Thr)
c.3646C>A (p.Pro1216Thr)
c.3514C>A (p.Pro1172Thr)
c.3382C>A (p.Pro1128Thr)
 dbSNP
20g.32436247C>GCA408563267ASXL1c.3535C>G (p.Pro1179Ala)
c.3352C>G (p.Pro1118Ala)
n.5888C>G
c.1869+1666C>G (n.1869+1666C>G)
c.3520C>G (p.Pro1174Ala)
c.3532C>G (p.Pro1178Ala)
c.3505C>G (p.Pro1169Ala)
c.3451C>G (p.Pro1151Ala)
c.2851C>G (p.Pro951Ala)
c.3799C>G (p.Pro1267Ala)
c.3796C>G (p.Pro1266Ala)
c.3715C>G (p.Pro1239Ala)
c.3646C>G (p.Pro1216Ala)
c.3514C>G (p.Pro1172Ala)
c.3382C>G (p.Pro1128Ala)
 dbSNP
20g.32436247C>TCA408563268ASXL1c.3535C>T (p.Pro1179Ser)
c.3352C>T (p.Pro1118Ser)
n.5888C>T
c.1869+1666C>T (n.1869+1666C>T)
c.3520C>T (p.Pro1174Ser)
c.3532C>T (p.Pro1178Ser)
c.3505C>T (p.Pro1169Ser)
c.3451C>T (p.Pro1151Ser)
c.2851C>T (p.Pro951Ser)
c.3799C>T (p.Pro1267Ser)
c.3796C>T (p.Pro1266Ser)
c.3715C>T (p.Pro1239Ser)
c.3646C>T (p.Pro1216Ser)
c.3514C>T (p.Pro1172Ser)
c.3382C>T (p.Pro1128Ser)
 dbSNP
20g.32436248C>ACA408563270ASXL1c.3536C>A (p.Pro1179Gln)
c.3353C>A (p.Pro1118Gln)
n.5889C>A
c.1869+1667C>A (n.1869+1667C>A)
c.3521C>A (p.Pro1174Gln)
c.3533C>A (p.Pro1178Gln)
c.3506C>A (p.Pro1169Gln)
c.3452C>A (p.Pro1151Gln)
c.2852C>A (p.Pro951Gln)
c.3800C>A (p.Pro1267Gln)
c.3797C>A (p.Pro1266Gln)
c.3716C>A (p.Pro1239Gln)
c.3647C>A (p.Pro1216Gln)
c.3515C>A (p.Pro1172Gln)
c.3383C>A (p.Pro1128Gln)
20g.32436248C>GCA408563271ASXL1c.3536C>G (p.Pro1179Arg)
c.3353C>G (p.Pro1118Arg)
n.5889C>G
c.1869+1667C>G (n.1869+1667C>G)
c.3521C>G (p.Pro1174Arg)
c.3533C>G (p.Pro1178Arg)
c.3506C>G (p.Pro1169Arg)
c.3452C>G (p.Pro1151Arg)
c.2852C>G (p.Pro951Arg)
c.3800C>G (p.Pro1267Arg)
c.3797C>G (p.Pro1266Arg)
c.3716C>G (p.Pro1239Arg)
c.3647C>G (p.Pro1216Arg)
c.3515C>G (p.Pro1172Arg)
c.3383C>G (p.Pro1128Arg)
20g.32436248C>TCA408563269ASXL1c.3536C>T (p.Pro1179Leu)
c.3353C>T (p.Pro1118Leu)
n.5889C>T
c.1869+1667C>T (n.1869+1667C>T)
c.3521C>T (p.Pro1174Leu)
c.3533C>T (p.Pro1178Leu)
c.3506C>T (p.Pro1169Leu)
c.3452C>T (p.Pro1151Leu)
c.2852C>T (p.Pro951Leu)
c.3800C>T (p.Pro1267Leu)
c.3797C>T (p.Pro1266Leu)
c.3716C>T (p.Pro1239Leu)
c.3647C>T (p.Pro1216Leu)
c.3515C>T (p.Pro1172Leu)
c.3383C>T (p.Pro1128Leu)
20g.32436249A=CA2360293609ASXL1c.3537A= (p.Pro1179=)
c.3354A= (p.Pro1118=)
n.5890A=
c.1869+1668A= (n.1869+1668A=)
c.3522A= (p.Pro1174=)
c.3534A= (p.Pro1178=)
c.3507A= (p.Pro1169=)
c.3453A= (p.Pro1151=)
c.2853A= (p.Pro951=)
c.3801A= (p.Pro1267=)
c.3798A= (p.Pro1266=)
c.3717A= (p.Pro1239=)
c.3648A= (p.Pro1216=)
c.3516A= (p.Pro1172=)
c.3384A= (p.Pro1128=)
20g.32436249A>CCA510467334ASXL1c.3537A>C (p.Pro1179=)
c.3354A>C (p.Pro1118=)
n.5890A>C
c.1869+1668A>C (n.1869+1668A>C)
c.3522A>C (p.Pro1174=)
c.3534A>C (p.Pro1178=)
c.3507A>C (p.Pro1169=)
c.3453A>C (p.Pro1151=)
c.2853A>C (p.Pro951=)
c.3801A>C (p.Pro1267=)
c.3798A>C (p.Pro1266=)
c.3717A>C (p.Pro1239=)
c.3648A>C (p.Pro1216=)
c.3516A>C (p.Pro1172=)
c.3384A>C (p.Pro1128=)
20g.32436249A>GCA313926348ASXL1c.3537A>G (p.Pro1179=)
c.3354A>G (p.Pro1118=)
n.5890A>G
c.1869+1668A>G (n.1869+1668A>G)
c.3522A>G (p.Pro1174=)
c.3534A>G (p.Pro1178=)
c.3507A>G (p.Pro1169=)
c.3453A>G (p.Pro1151=)
c.2853A>G (p.Pro951=)
c.3801A>G (p.Pro1267=)
c.3798A>G (p.Pro1266=)
c.3717A>G (p.Pro1239=)
c.3648A>G (p.Pro1216=)
c.3516A>G (p.Pro1172=)
c.3384A>G (p.Pro1128=)
 dbSNP gnomAD v4
20g.32436249A>TCA510467331ASXL1c.3537A>T (p.Pro1179=)
c.3354A>T (p.Pro1118=)
n.5890A>T
c.1869+1668A>T (n.1869+1668A>T)
c.3522A>T (p.Pro1174=)
c.3534A>T (p.Pro1178=)
c.3507A>T (p.Pro1169=)
c.3453A>T (p.Pro1151=)
c.2853A>T (p.Pro951=)
c.3801A>T (p.Pro1267=)
c.3798A>T (p.Pro1266=)
c.3717A>T (p.Pro1239=)
c.3648A>T (p.Pro1216=)
c.3516A>T (p.Pro1172=)
c.3384A>T (p.Pro1128=)
20g.32436250G>ACA9808847ASXL1c.3538G>A (p.Asp1180Asn)
c.3355G>A (p.Asp1119Asn)
n.5891G>A
c.1869+1669G>A (n.1869+1669G>A)
c.3523G>A (p.Asp1175Asn)
c.3535G>A (p.Asp1179Asn)
c.3508G>A (p.Asp1170Asn)
c.3454G>A (p.Asp1152Asn)
c.2854G>A (p.Asp952Asn)
c.3802G>A (p.Asp1268Asn)
c.3799G>A (p.Asp1267Asn)
c.3718G>A (p.Asp1240Asn)
c.3649G>A (p.Asp1217Asn)
c.3517G>A (p.Asp1173Asn)
c.3385G>A (p.Asp1129Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436250G>CCA408563272ASXL1c.3538G>C (p.Asp1180His)
c.3355G>C (p.Asp1119His)
n.5891G>C
c.1869+1669G>C (n.1869+1669G>C)
c.3523G>C (p.Asp1175His)
c.3535G>C (p.Asp1179His)
c.3508G>C (p.Asp1170His)
c.3454G>C (p.Asp1152His)
c.2854G>C (p.Asp952His)
c.3802G>C (p.Asp1268His)
c.3799G>C (p.Asp1267His)
c.3718G>C (p.Asp1240His)
c.3649G>C (p.Asp1217His)
c.3517G>C (p.Asp1173His)
c.3385G>C (p.Asp1129His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436250G=CA2360293610ASXL1c.3538G= (p.Asp1180=)
c.3355G= (p.Asp1119=)
n.5891G=
c.1869+1669G= (n.1869+1669G=)
c.3523G= (p.Asp1175=)
c.3535G= (p.Asp1179=)
c.3508G= (p.Asp1170=)
c.3454G= (p.Asp1152=)
c.2854G= (p.Asp952=)
c.3802G= (p.Asp1268=)
c.3799G= (p.Asp1267=)
c.3718G= (p.Asp1240=)
c.3649G= (p.Asp1217=)
c.3517G= (p.Asp1173=)
c.3385G= (p.Asp1129=)
20g.32436250G>TCA408563273ASXL1c.3538G>T (p.Asp1180Tyr)
c.3355G>T (p.Asp1119Tyr)
n.5891G>T
c.1869+1669G>T (n.1869+1669G>T)
c.3523G>T (p.Asp1175Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3454G>T (p.Asp1152Tyr)
c.2854G>T (p.Asp952Tyr)
c.3802G>T (p.Asp1268Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3718G>T (p.Asp1240Tyr)
c.3649G>T (p.Asp1217Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3385G>T (p.Asp1129Tyr)
20g.32436251A=CA2360293611ASXL1c.3539A= (p.Asp1180=)
c.3356A= (p.Asp1119=)
n.5892A=
c.1869+1670A= (n.1869+1670A=)
c.3524A= (p.Asp1175=)
c.3536A= (p.Asp1179=)
c.3509A= (p.Asp1170=)
c.3455A= (p.Asp1152=)
c.2855A= (p.Asp952=)
c.3803A= (p.Asp1268=)
c.3800A= (p.Asp1267=)
c.3719A= (p.Asp1240=)
c.3650A= (p.Asp1217=)
c.3518A= (p.Asp1173=)
c.3386A= (p.Asp1129=)
20g.32436251A>CCA408563275ASXL1c.3539A>C (p.Asp1180Ala)
c.3356A>C (p.Asp1119Ala)
n.5892A>C
c.1869+1670A>C (n.1869+1670A>C)
c.3524A>C (p.Asp1175Ala)
c.3536A>C (p.Asp1179Ala)
c.3509A>C (p.Asp1170Ala)
c.3455A>C (p.Asp1152Ala)
c.2855A>C (p.Asp952Ala)
c.3803A>C (p.Asp1268Ala)
c.3800A>C (p.Asp1267Ala)
c.3719A>C (p.Asp1240Ala)
c.3650A>C (p.Asp1217Ala)
c.3518A>C (p.Asp1173Ala)
c.3386A>C (p.Asp1129Ala)
20g.32436251A>GCA9808848ASXL1c.3539A>G (p.Asp1180Gly)
c.3356A>G (p.Asp1119Gly)
n.5892A>G
c.1869+1670A>G (n.1869+1670A>G)
c.3524A>G (p.Asp1175Gly)
c.3536A>G (p.Asp1179Gly)
c.3509A>G (p.Asp1170Gly)
c.3455A>G (p.Asp1152Gly)
c.2855A>G (p.Asp952Gly)
c.3803A>G (p.Asp1268Gly)
c.3800A>G (p.Asp1267Gly)
c.3719A>G (p.Asp1240Gly)
c.3650A>G (p.Asp1217Gly)
c.3518A>G (p.Asp1173Gly)
c.3386A>G (p.Asp1129Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436251A>TCA408563274ASXL1c.3539A>T (p.Asp1180Val)
c.3356A>T (p.Asp1119Val)
n.5892A>T
c.1869+1670A>T (n.1869+1670A>T)
c.3524A>T (p.Asp1175Val)
c.3536A>T (p.Asp1179Val)
c.3509A>T (p.Asp1170Val)
c.3455A>T (p.Asp1152Val)
c.2855A>T (p.Asp952Val)
c.3803A>T (p.Asp1268Val)
c.3800A>T (p.Asp1267Val)
c.3719A>T (p.Asp1240Val)
c.3650A>T (p.Asp1217Val)
c.3518A>T (p.Asp1173Val)
c.3386A>T (p.Asp1129Val)
20g.32436252T>ACA408563276ASXL1c.3540T>A (p.Asp1180Glu)
c.3357T>A (p.Asp1119Glu)
n.5893T>A
c.1869+1671T>A (n.1869+1671T>A)
c.3525T>A (p.Asp1175Glu)
c.3537T>A (p.Asp1179Glu)
c.3510T>A (p.Asp1170Glu)
c.3456T>A (p.Asp1152Glu)
c.2856T>A (p.Asp952Glu)
c.3804T>A (p.Asp1268Glu)
c.3801T>A (p.Asp1267Glu)
c.3720T>A (p.Asp1240Glu)
c.3651T>A (p.Asp1217Glu)
c.3519T>A (p.Asp1173Glu)
c.3387T>A (p.Asp1129Glu)
20g.32436252T>CCA9808849ASXL1c.3540T>C (p.Asp1180=)
c.3357T>C (p.Asp1119=)
n.5893T>C
c.1869+1671T>C (n.1869+1671T>C)
c.3525T>C (p.Asp1175=)
c.3537T>C (p.Asp1179=)
c.3510T>C (p.Asp1170=)
c.3456T>C (p.Asp1152=)
c.2856T>C (p.Asp952=)
c.3804T>C (p.Asp1268=)
c.3801T>C (p.Asp1267=)
c.3720T>C (p.Asp1240=)
c.3651T>C (p.Asp1217=)
c.3519T>C (p.Asp1173=)
c.3387T>C (p.Asp1129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436252T>GCA9808850ASXL1c.3540T>G (p.Asp1180Glu)
c.3357T>G (p.Asp1119Glu)
n.5893T>G
c.1869+1671T>G (n.1869+1671T>G)
c.3525T>G (p.Asp1175Glu)
c.3537T>G (p.Asp1179Glu)
c.3510T>G (p.Asp1170Glu)
c.3456T>G (p.Asp1152Glu)
c.2856T>G (p.Asp952Glu)
c.3804T>G (p.Asp1268Glu)
c.3801T>G (p.Asp1267Glu)
c.3720T>G (p.Asp1240Glu)
c.3651T>G (p.Asp1217Glu)
c.3519T>G (p.Asp1173Glu)
c.3387T>G (p.Asp1129Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436252T=CA2360293612ASXL1c.3540T= (p.Asp1180=)
c.3357T= (p.Asp1119=)
n.5893T=
c.1869+1671T= (n.1869+1671T=)
c.3525T= (p.Asp1175=)
c.3537T= (p.Asp1179=)
c.3510T= (p.Asp1170=)
c.3456T= (p.Asp1152=)
c.2856T= (p.Asp952=)
c.3804T= (p.Asp1268=)
c.3801T= (p.Asp1267=)
c.3720T= (p.Asp1240=)
c.3651T= (p.Asp1217=)
c.3519T= (p.Asp1173=)
c.3387T= (p.Asp1129=)
20g.32436253A=CA2360293613ASXL1c.3541A= (p.Ser1181=)
c.3358A= (p.Ser1120=)
n.5894A=
c.1869+1672A= (n.1869+1672A=)
c.3526A= (p.Ser1176=)
c.3538A= (p.Ser1180=)
c.3511A= (p.Ser1171=)
c.3457A= (p.Ser1153=)
c.2857A= (p.Ser953=)
c.3805A= (p.Ser1269=)
c.3802A= (p.Ser1268=)
c.3721A= (p.Ser1241=)
c.3652A= (p.Ser1218=)
c.3520A= (p.Ser1174=)
c.3388A= (p.Ser1130=)
20g.32436253A>CCA313926349ASXL1c.3541A>C (p.Ser1181Arg)
c.3358A>C (p.Ser1120Arg)
n.5894A>C
c.1869+1672A>C (n.1869+1672A>C)
c.3526A>C (p.Ser1176Arg)
c.3538A>C (p.Ser1180Arg)
c.3511A>C (p.Ser1171Arg)
c.3457A>C (p.Ser1153Arg)
c.2857A>C (p.Ser953Arg)
c.3805A>C (p.Ser1269Arg)
c.3802A>C (p.Ser1268Arg)
c.3721A>C (p.Ser1241Arg)
c.3652A>C (p.Ser1218Arg)
c.3520A>C (p.Ser1174Arg)
c.3388A>C (p.Ser1130Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32436253A>GCA408563277ASXL1c.3541A>G (p.Ser1181Gly)
c.3358A>G (p.Ser1120Gly)
n.5894A>G
c.1869+1672A>G (n.1869+1672A>G)
c.3526A>G (p.Ser1176Gly)
c.3538A>G (p.Ser1180Gly)
c.3511A>G (p.Ser1171Gly)
c.3457A>G (p.Ser1153Gly)
c.2857A>G (p.Ser953Gly)
c.3805A>G (p.Ser1269Gly)
c.3802A>G (p.Ser1268Gly)
c.3721A>G (p.Ser1241Gly)
c.3652A>G (p.Ser1218Gly)
c.3520A>G (p.Ser1174Gly)
c.3388A>G (p.Ser1130Gly)
20g.32436253A>TCA408563278ASXL1c.3541A>T (p.Ser1181Cys)
c.3358A>T (p.Ser1120Cys)
n.5894A>T
c.1869+1672A>T (n.1869+1672A>T)
c.3526A>T (p.Ser1176Cys)
c.3538A>T (p.Ser1180Cys)
c.3511A>T (p.Ser1171Cys)
c.3457A>T (p.Ser1153Cys)
c.2857A>T (p.Ser953Cys)
c.3805A>T (p.Ser1269Cys)
c.3802A>T (p.Ser1268Cys)
c.3721A>T (p.Ser1241Cys)
c.3652A>T (p.Ser1218Cys)
c.3520A>T (p.Ser1174Cys)
c.3388A>T (p.Ser1130Cys)
20g.32436254G>ACA408563281ASXL1c.3542G>A (p.Ser1181Asn)
c.3359G>A (p.Ser1120Asn)
n.5895G>A
c.1869+1673G>A (n.1869+1673G>A)
c.3527G>A (p.Ser1176Asn)
c.3539G>A (p.Ser1180Asn)
c.3512G>A (p.Ser1171Asn)
c.3458G>A (p.Ser1153Asn)
c.2858G>A (p.Ser953Asn)
c.3806G>A (p.Ser1269Asn)
c.3803G>A (p.Ser1268Asn)
c.3722G>A (p.Ser1241Asn)
c.3653G>A (p.Ser1218Asn)
c.3521G>A (p.Ser1174Asn)
c.3389G>A (p.Ser1130Asn)
 dbSNP gnomAD v4
20g.32436254G>CCA408563280ASXL1c.3542G>C (p.Ser1181Thr)
c.3359G>C (p.Ser1120Thr)
n.5895G>C
c.1869+1673G>C (n.1869+1673G>C)
c.3527G>C (p.Ser1176Thr)
c.3539G>C (p.Ser1180Thr)
c.3512G>C (p.Ser1171Thr)
c.3458G>C (p.Ser1153Thr)
c.2858G>C (p.Ser953Thr)
c.3806G>C (p.Ser1269Thr)
c.3803G>C (p.Ser1268Thr)
c.3722G>C (p.Ser1241Thr)
c.3653G>C (p.Ser1218Thr)
c.3521G>C (p.Ser1174Thr)
c.3389G>C (p.Ser1130Thr)
20g.32436254G=CA2360293614ASXL1c.3542G= (p.Ser1181=)
c.3359G= (p.Ser1120=)
n.5895G=
c.1869+1673G= (n.1869+1673G=)
c.3527G= (p.Ser1176=)
c.3539G= (p.Ser1180=)
c.3512G= (p.Ser1171=)
c.3458G= (p.Ser1153=)
c.2858G= (p.Ser953=)
c.3806G= (p.Ser1269=)
c.3803G= (p.Ser1268=)
c.3722G= (p.Ser1241=)
c.3653G= (p.Ser1218=)
c.3521G= (p.Ser1174=)
c.3389G= (p.Ser1130=)
20g.32436254G>TCA408563279ASXL1c.3542G>T (p.Ser1181Ile)
c.3359G>T (p.Ser1120Ile)
n.5895G>T
c.1869+1673G>T (n.1869+1673G>T)
c.3527G>T (p.Ser1176Ile)
c.3539G>T (p.Ser1180Ile)
c.3512G>T (p.Ser1171Ile)
c.3458G>T (p.Ser1153Ile)
c.2858G>T (p.Ser953Ile)
c.3806G>T (p.Ser1269Ile)
c.3803G>T (p.Ser1268Ile)
c.3722G>T (p.Ser1241Ile)
c.3653G>T (p.Ser1218Ile)
c.3521G>T (p.Ser1174Ile)
c.3389G>T (p.Ser1130Ile)
20g.32436255C>ACA408563282ASXL1c.3543C>A (p.Ser1181Arg)
c.3360C>A (p.Ser1120Arg)
n.5896C>A
c.1869+1674C>A (n.1869+1674C>A)
c.3528C>A (p.Ser1176Arg)
c.3540C>A (p.Ser1180Arg)
c.3513C>A (p.Ser1171Arg)
c.3459C>A (p.Ser1153Arg)
c.2859C>A (p.Ser953Arg)
c.3807C>A (p.Ser1269Arg)
c.3804C>A (p.Ser1268Arg)
c.3723C>A (p.Ser1241Arg)
c.3654C>A (p.Ser1218Arg)
c.3522C>A (p.Ser1174Arg)
c.3390C>A (p.Ser1130Arg)
20g.32436255C>GCA408563283ASXL1c.3543C>G (p.Ser1181Arg)
c.3360C>G (p.Ser1120Arg)
n.5896C>G
c.1869+1674C>G (n.1869+1674C>G)
c.3528C>G (p.Ser1176Arg)
c.3540C>G (p.Ser1180Arg)
c.3513C>G (p.Ser1171Arg)
c.3459C>G (p.Ser1153Arg)
c.2859C>G (p.Ser953Arg)
c.3807C>G (p.Ser1269Arg)
c.3804C>G (p.Ser1268Arg)
c.3723C>G (p.Ser1241Arg)
c.3654C>G (p.Ser1218Arg)
c.3522C>G (p.Ser1174Arg)
c.3390C>G (p.Ser1130Arg)
20g.32436255C>TCA510467340ASXL1c.3543C>T (p.Ser1181=)
c.3360C>T (p.Ser1120=)
n.5896C>T
c.1869+1674C>T (n.1869+1674C>T)
c.3528C>T (p.Ser1176=)
c.3540C>T (p.Ser1180=)
c.3513C>T (p.Ser1171=)
c.3459C>T (p.Ser1153=)
c.2859C>T (p.Ser953=)
c.3807C>T (p.Ser1269=)
c.3804C>T (p.Ser1268=)
c.3723C>T (p.Ser1241=)
c.3654C>T (p.Ser1218=)
c.3522C>T (p.Ser1174=)
c.3390C>T (p.Ser1130=)
 dbSNP
20g.32436256T>ACA408563284ASXL1c.3544T>A (p.Cys1182Ser)
c.3361T>A (p.Cys1121Ser)
n.5897T>A
c.1869+1675T>A (n.1869+1675T>A)
c.3529T>A (p.Cys1177Ser)
c.3541T>A (p.Cys1181Ser)
c.3514T>A (p.Cys1172Ser)
c.3460T>A (p.Cys1154Ser)
c.2860T>A (p.Cys954Ser)
c.3808T>A (p.Cys1270Ser)
c.3805T>A (p.Cys1269Ser)
c.3724T>A (p.Cys1242Ser)
c.3655T>A (p.Cys1219Ser)
c.3523T>A (p.Cys1175Ser)
c.3391T>A (p.Cys1131Ser)
20g.32436256T>CCA408563286ASXL1c.3544T>C (p.Cys1182Arg)
c.3361T>C (p.Cys1121Arg)
n.5897T>C
c.1869+1675T>C (n.1869+1675T>C)
c.3529T>C (p.Cys1177Arg)
c.3541T>C (p.Cys1181Arg)
c.3514T>C (p.Cys1172Arg)
c.3460T>C (p.Cys1154Arg)
c.2860T>C (p.Cys954Arg)
c.3808T>C (p.Cys1270Arg)
c.3805T>C (p.Cys1269Arg)
c.3724T>C (p.Cys1242Arg)
c.3655T>C (p.Cys1219Arg)
c.3523T>C (p.Cys1175Arg)
c.3391T>C (p.Cys1131Arg)
20g.32436256T>GCA408563285ASXL1c.3544T>G (p.Cys1182Gly)
c.3361T>G (p.Cys1121Gly)
n.5897T>G
c.1869+1675T>G (n.1869+1675T>G)
c.3529T>G (p.Cys1177Gly)
c.3541T>G (p.Cys1181Gly)
c.3514T>G (p.Cys1172Gly)
c.3460T>G (p.Cys1154Gly)
c.2860T>G (p.Cys954Gly)
c.3808T>G (p.Cys1270Gly)
c.3805T>G (p.Cys1269Gly)
c.3724T>G (p.Cys1242Gly)
c.3655T>G (p.Cys1219Gly)
c.3523T>G (p.Cys1175Gly)
c.3391T>G (p.Cys1131Gly)
20g.32436257G>ACA408563287ASXL1c.3545G>A (p.Cys1182Tyr)
c.3362G>A (p.Cys1121Tyr)
n.5898G>A
c.1869+1676G>A (n.1869+1676G>A)
c.3530G>A (p.Cys1177Tyr)
c.3542G>A (p.Cys1181Tyr)
c.3515G>A (p.Cys1172Tyr)
c.3461G>A (p.Cys1154Tyr)
c.2861G>A (p.Cys954Tyr)
c.3809G>A (p.Cys1270Tyr)
c.3806G>A (p.Cys1269Tyr)
c.3725G>A (p.Cys1242Tyr)
c.3656G>A (p.Cys1219Tyr)
c.3524G>A (p.Cys1175Tyr)
c.3392G>A (p.Cys1131Tyr)
 gnomAD v4
20g.32436257G>CCA408563289ASXL1c.3545G>C (p.Cys1182Ser)
c.3362G>C (p.Cys1121Ser)
n.5898G>C
c.1869+1676G>C (n.1869+1676G>C)
c.3530G>C (p.Cys1177Ser)
c.3542G>C (p.Cys1181Ser)
c.3515G>C (p.Cys1172Ser)
c.3461G>C (p.Cys1154Ser)
c.2861G>C (p.Cys954Ser)
c.3809G>C (p.Cys1270Ser)
c.3806G>C (p.Cys1269Ser)
c.3725G>C (p.Cys1242Ser)
c.3656G>C (p.Cys1219Ser)
c.3524G>C (p.Cys1175Ser)
c.3392G>C (p.Cys1131Ser)
 dbSNP
20g.32436257G>TCA408563288ASXL1c.3545G>T (p.Cys1182Phe)
c.3362G>T (p.Cys1121Phe)
n.5898G>T
c.1869+1676G>T (n.1869+1676G>T)
c.3530G>T (p.Cys1177Phe)
c.3542G>T (p.Cys1181Phe)
c.3515G>T (p.Cys1172Phe)
c.3461G>T (p.Cys1154Phe)
c.2861G>T (p.Cys954Phe)
c.3809G>T (p.Cys1270Phe)
c.3806G>T (p.Cys1269Phe)
c.3725G>T (p.Cys1242Phe)
c.3656G>T (p.Cys1219Phe)
c.3524G>T (p.Cys1175Phe)
c.3392G>T (p.Cys1131Phe)
20g.32436258T>ACA408563290ASXL1c.3546T>A (p.Cys1182Ter)
c.3363T>A (p.Cys1121Ter)
n.5899T>A
c.1869+1677T>A (n.1869+1677T>A)
c.3531T>A (p.Cys1177Ter)
c.3543T>A (p.Cys1181Ter)
c.3516T>A (p.Cys1172Ter)
c.3462T>A (p.Cys1154Ter)
c.2862T>A (p.Cys954Ter)
c.3810T>A (p.Cys1270Ter)
c.3807T>A (p.Cys1269Ter)
c.3726T>A (p.Cys1242Ter)
c.3657T>A (p.Cys1219Ter)
c.3525T>A (p.Cys1175Ter)
c.3393T>A (p.Cys1131Ter)
20g.32436258T>CCA510467294ASXL1c.3546T>C (p.Cys1182=)
c.3363T>C (p.Cys1121=)
n.5899T>C
c.1869+1677T>C (n.1869+1677T>C)
c.3531T>C (p.Cys1177=)
c.3543T>C (p.Cys1181=)
c.3516T>C (p.Cys1172=)
c.3462T>C (p.Cys1154=)
c.2862T>C (p.Cys954=)
c.3810T>C (p.Cys1270=)
c.3807T>C (p.Cys1269=)
c.3726T>C (p.Cys1242=)
c.3657T>C (p.Cys1219=)
c.3525T>C (p.Cys1175=)
c.3393T>C (p.Cys1131=)
20g.32436258T>GCA408563291ASXL1c.3546T>G (p.Cys1182Trp)
c.3363T>G (p.Cys1121Trp)
n.5899T>G
c.1869+1677T>G (n.1869+1677T>G)
c.3531T>G (p.Cys1177Trp)
c.3543T>G (p.Cys1181Trp)
c.3516T>G (p.Cys1172Trp)
c.3462T>G (p.Cys1154Trp)
c.2862T>G (p.Cys954Trp)
c.3810T>G (p.Cys1270Trp)
c.3807T>G (p.Cys1269Trp)
c.3726T>G (p.Cys1242Trp)
c.3657T>G (p.Cys1219Trp)
c.3525T>G (p.Cys1175Trp)
c.3393T>G (p.Cys1131Trp)
 ClinVar
20g.32436259G>ACA408563292ASXL1c.3547G>A (p.Glu1183Lys)
c.3364G>A (p.Glu1122Lys)
n.5900G>A
c.1869+1678G>A (n.1869+1678G>A)
c.3532G>A (p.Glu1178Lys)
c.3544G>A (p.Glu1182Lys)
c.3517G>A (p.Glu1173Lys)
c.3463G>A (p.Glu1155Lys)
c.2863G>A (p.Glu955Lys)
c.3811G>A (p.Glu1271Lys)
c.3808G>A (p.Glu1270Lys)
c.3727G>A (p.Glu1243Lys)
c.3658G>A (p.Glu1220Lys)
c.3526G>A (p.Glu1176Lys)
c.3394G>A (p.Glu1132Lys)
 dbSNP
20g.32436259G>CCA408563293ASXL1c.3547G>C (p.Glu1183Gln)
c.3364G>C (p.Glu1122Gln)
n.5900G>C
c.1869+1678G>C (n.1869+1678G>C)
c.3532G>C (p.Glu1178Gln)
c.3544G>C (p.Glu1182Gln)
c.3517G>C (p.Glu1173Gln)
c.3463G>C (p.Glu1155Gln)
c.2863G>C (p.Glu955Gln)
c.3811G>C (p.Glu1271Gln)
c.3808G>C (p.Glu1270Gln)
c.3727G>C (p.Glu1243Gln)
c.3658G>C (p.Glu1220Gln)
c.3526G>C (p.Glu1176Gln)
c.3394G>C (p.Glu1132Gln)
20g.32436259G>TCA408563294ASXL1c.3547G>T (p.Glu1183Ter)
c.3364G>T (p.Glu1122Ter)
n.5900G>T
c.1869+1678G>T (n.1869+1678G>T)
c.3532G>T (p.Glu1178Ter)
c.3544G>T (p.Glu1182Ter)
c.3517G>T (p.Glu1173Ter)
c.3463G>T (p.Glu1155Ter)
c.2863G>T (p.Glu955Ter)
c.3811G>T (p.Glu1271Ter)
c.3808G>T (p.Glu1270Ter)
c.3727G>T (p.Glu1243Ter)
c.3658G>T (p.Glu1220Ter)
c.3526G>T (p.Glu1176Ter)
c.3394G>T (p.Glu1132Ter)
20g.32436260A=CA2360293615ASXL1c.3548A= (p.Glu1183=)
c.3365A= (p.Glu1122=)
n.5901A=
c.1869+1679A= (n.1869+1679A=)
c.3533A= (p.Glu1178=)
c.3545A= (p.Glu1182=)
c.3518A= (p.Glu1173=)
c.3464A= (p.Glu1155=)
c.2864A= (p.Glu955=)
c.3812A= (p.Glu1271=)
c.3809A= (p.Glu1270=)
c.3728A= (p.Glu1243=)
c.3659A= (p.Glu1220=)
c.3527A= (p.Glu1176=)
c.3395A= (p.Glu1132=)
20g.32436260A>CCA408563295ASXL1c.3548A>C (p.Glu1183Ala)
c.3365A>C (p.Glu1122Ala)
n.5901A>C
c.1869+1679A>C (n.1869+1679A>C)
c.3533A>C (p.Glu1178Ala)
c.3545A>C (p.Glu1182Ala)
c.3518A>C (p.Glu1173Ala)
c.3464A>C (p.Glu1155Ala)
c.2864A>C (p.Glu955Ala)
c.3812A>C (p.Glu1271Ala)
c.3809A>C (p.Glu1270Ala)
c.3728A>C (p.Glu1243Ala)
c.3659A>C (p.Glu1220Ala)
c.3527A>C (p.Glu1176Ala)
c.3395A>C (p.Glu1132Ala)
 ClinVar dbSNP gnomAD v4
20g.32436260A>GCA408563296ASXL1c.3548A>G (p.Glu1183Gly)
c.3365A>G (p.Glu1122Gly)
n.5901A>G
c.1869+1679A>G (n.1869+1679A>G)
c.3533A>G (p.Glu1178Gly)
c.3545A>G (p.Glu1182Gly)
c.3518A>G (p.Glu1173Gly)
c.3464A>G (p.Glu1155Gly)
c.2864A>G (p.Glu955Gly)
c.3812A>G (p.Glu1271Gly)
c.3809A>G (p.Glu1270Gly)
c.3728A>G (p.Glu1243Gly)
c.3659A>G (p.Glu1220Gly)
c.3527A>G (p.Glu1176Gly)
c.3395A>G (p.Glu1132Gly)
20g.32436260A>TCA408563297ASXL1c.3548A>T (p.Glu1183Val)
c.3365A>T (p.Glu1122Val)
n.5901A>T
c.1869+1679A>T (n.1869+1679A>T)
c.3533A>T (p.Glu1178Val)
c.3545A>T (p.Glu1182Val)
c.3518A>T (p.Glu1173Val)
c.3464A>T (p.Glu1155Val)
c.2864A>T (p.Glu955Val)
c.3812A>T (p.Glu1271Val)
c.3809A>T (p.Glu1270Val)
c.3728A>T (p.Glu1243Val)
c.3659A>T (p.Glu1220Val)
c.3527A>T (p.Glu1176Val)
c.3395A>T (p.Glu1132Val)
20g.32436262dupCA2580098071ASXL1c.3550dup (p.Thr1184AsnfsTer9)
c.3367dup (p.Thr1123AsnfsTer9)
n.5903dup
c.1869+1681dup (n.1869+1681dup)
c.3535dup (p.Thr1179AsnfsTer9)
c.3547dup (p.Thr1183AsnfsTer9)
c.3520dup (p.Thr1174AsnfsTer9)
c.3466dup (p.Thr1156AsnfsTer9)
c.2866dup (p.Thr956AsnfsTer9)
c.3814dup (p.Thr1272AsnfsTer9)
c.3811dup (p.Thr1271AsnfsTer9)
c.3730dup (p.Thr1244AsnfsTer9)
c.3661dup (p.Thr1221AsnfsTer9)
c.3529dup (p.Thr1177AsnfsTer9)
c.3397dup (p.Thr1133AsnfsTer9)
 ClinVar
20g.32436261A>CCA408563298ASXL1c.3549A>C (p.Glu1183Asp)
c.3366A>C (p.Glu1122Asp)
n.5902A>C
c.1869+1680A>C (n.1869+1680A>C)
c.3534A>C (p.Glu1178Asp)
c.3546A>C (p.Glu1182Asp)
c.3519A>C (p.Glu1173Asp)
c.3465A>C (p.Glu1155Asp)
c.2865A>C (p.Glu955Asp)
c.3813A>C (p.Glu1271Asp)
c.3810A>C (p.Glu1270Asp)
c.3729A>C (p.Glu1243Asp)
c.3660A>C (p.Glu1220Asp)
c.3528A>C (p.Glu1176Asp)
c.3396A>C (p.Glu1132Asp)
20g.32436261A>GCA510467296ASXL1c.3549A>G (p.Glu1183=)
c.3366A>G (p.Glu1122=)
n.5902A>G
c.1869+1680A>G (n.1869+1680A>G)
c.3534A>G (p.Glu1178=)
c.3546A>G (p.Glu1182=)
c.3519A>G (p.Glu1173=)
c.3465A>G (p.Glu1155=)
c.2865A>G (p.Glu955=)
c.3813A>G (p.Glu1271=)
c.3810A>G (p.Glu1270=)
c.3729A>G (p.Glu1243=)
c.3660A>G (p.Glu1220=)
c.3528A>G (p.Glu1176=)
c.3396A>G (p.Glu1132=)
20g.32436261A>TCA408563299ASXL1c.3549A>T (p.Glu1183Asp)
c.3366A>T (p.Glu1122Asp)
n.5902A>T
c.1869+1680A>T (n.1869+1680A>T)
c.3534A>T (p.Glu1178Asp)
c.3546A>T (p.Glu1182Asp)
c.3519A>T (p.Glu1173Asp)
c.3465A>T (p.Glu1155Asp)
c.2865A>T (p.Glu955Asp)
c.3813A>T (p.Glu1271Asp)
c.3810A>T (p.Glu1270Asp)
c.3729A>T (p.Glu1243Asp)
c.3660A>T (p.Glu1220Asp)
c.3528A>T (p.Glu1176Asp)
c.3396A>T (p.Glu1132Asp)
20g.32436262A>CCA408563302ASXL1c.3550A>C (p.Thr1184Pro)
c.3367A>C (p.Thr1123Pro)
n.5903A>C
c.1869+1681A>C (n.1869+1681A>C)
c.3535A>C (p.Thr1179Pro)
c.3547A>C (p.Thr1183Pro)
c.3520A>C (p.Thr1174Pro)
c.3466A>C (p.Thr1156Pro)
c.2866A>C (p.Thr956Pro)
c.3814A>C (p.Thr1272Pro)
c.3811A>C (p.Thr1271Pro)
c.3730A>C (p.Thr1244Pro)
c.3661A>C (p.Thr1221Pro)
c.3529A>C (p.Thr1177Pro)
c.3397A>C (p.Thr1133Pro)
20g.32436262A>GCA408563301ASXL1c.3550A>G (p.Thr1184Ala)
c.3367A>G (p.Thr1123Ala)
n.5903A>G
c.1869+1681A>G (n.1869+1681A>G)
c.3535A>G (p.Thr1179Ala)
c.3547A>G (p.Thr1183Ala)
c.3520A>G (p.Thr1174Ala)
c.3466A>G (p.Thr1156Ala)
c.2866A>G (p.Thr956Ala)
c.3814A>G (p.Thr1272Ala)
c.3811A>G (p.Thr1271Ala)
c.3730A>G (p.Thr1244Ala)
c.3661A>G (p.Thr1221Ala)
c.3529A>G (p.Thr1177Ala)
c.3397A>G (p.Thr1133Ala)
20g.32436262A>TCA408563300ASXL1c.3550A>T (p.Thr1184Ser)
c.3367A>T (p.Thr1123Ser)
n.5903A>T
c.1869+1681A>T (n.1869+1681A>T)
c.3535A>T (p.Thr1179Ser)
c.3547A>T (p.Thr1183Ser)
c.3520A>T (p.Thr1174Ser)
c.3466A>T (p.Thr1156Ser)
c.2866A>T (p.Thr956Ser)
c.3814A>T (p.Thr1272Ser)
c.3811A>T (p.Thr1271Ser)
c.3730A>T (p.Thr1244Ser)
c.3661A>T (p.Thr1221Ser)
c.3529A>T (p.Thr1177Ser)
c.3397A>T (p.Thr1133Ser)
20g.32436263C>ACA408563303ASXL1c.3551C>A (p.Thr1184Lys)
c.3368C>A (p.Thr1123Lys)
n.5904C>A
c.1869+1682C>A (n.1869+1682C>A)
c.3536C>A (p.Thr1179Lys)
c.3548C>A (p.Thr1183Lys)
c.3521C>A (p.Thr1174Lys)
c.3467C>A (p.Thr1156Lys)
c.2867C>A (p.Thr956Lys)
c.3815C>A (p.Thr1272Lys)
c.3812C>A (p.Thr1271Lys)
c.3731C>A (p.Thr1244Lys)
c.3662C>A (p.Thr1221Lys)
c.3530C>A (p.Thr1177Lys)
c.3398C>A (p.Thr1133Lys)
20g.32436263C>GCA408563304ASXL1c.3551C>G (p.Thr1184Arg)
c.3368C>G (p.Thr1123Arg)
n.5904C>G
c.1869+1682C>G (n.1869+1682C>G)
c.3536C>G (p.Thr1179Arg)
c.3548C>G (p.Thr1183Arg)
c.3521C>G (p.Thr1174Arg)
c.3467C>G (p.Thr1156Arg)
c.2867C>G (p.Thr956Arg)
c.3815C>G (p.Thr1272Arg)
c.3812C>G (p.Thr1271Arg)
c.3731C>G (p.Thr1244Arg)
c.3662C>G (p.Thr1221Arg)
c.3530C>G (p.Thr1177Arg)
c.3398C>G (p.Thr1133Arg)
20g.32436263C>TCA408563305ASXL1c.3551C>T (p.Thr1184Ile)
c.3368C>T (p.Thr1123Ile)
n.5904C>T
c.1869+1682C>T (n.1869+1682C>T)
c.3536C>T (p.Thr1179Ile)
c.3548C>T (p.Thr1183Ile)
c.3521C>T (p.Thr1174Ile)
c.3467C>T (p.Thr1156Ile)
c.2867C>T (p.Thr956Ile)
c.3815C>T (p.Thr1272Ile)
c.3812C>T (p.Thr1271Ile)
c.3731C>T (p.Thr1244Ile)
c.3662C>T (p.Thr1221Ile)
c.3530C>T (p.Thr1177Ile)
c.3398C>T (p.Thr1133Ile)
 gnomAD v4
20g.32436264A>CCA510467298ASXL1c.3552A>C (p.Thr1184=)
c.3369A>C (p.Thr1123=)
n.5905A>C
c.1869+1683A>C (n.1869+1683A>C)
c.3537A>C (p.Thr1179=)
c.3549A>C (p.Thr1183=)
c.3522A>C (p.Thr1174=)
c.3468A>C (p.Thr1156=)
c.2868A>C (p.Thr956=)
c.3816A>C (p.Thr1272=)
c.3813A>C (p.Thr1271=)
c.3732A>C (p.Thr1244=)
c.3663A>C (p.Thr1221=)
c.3531A>C (p.Thr1177=)
c.3399A>C (p.Thr1133=)
20g.32436264A>GCA510467299ASXL1c.3552A>G (p.Thr1184=)
c.3369A>G (p.Thr1123=)
n.5905A>G
c.1869+1683A>G (n.1869+1683A>G)
c.3537A>G (p.Thr1179=)
c.3549A>G (p.Thr1183=)
c.3522A>G (p.Thr1174=)
c.3468A>G (p.Thr1156=)
c.2868A>G (p.Thr956=)
c.3816A>G (p.Thr1272=)
c.3813A>G (p.Thr1271=)
c.3732A>G (p.Thr1244=)
c.3663A>G (p.Thr1221=)
c.3531A>G (p.Thr1177=)
c.3399A>G (p.Thr1133=)
20g.32436264A>TCA510467300ASXL1c.3552A>T (p.Thr1184=)
c.3369A>T (p.Thr1123=)
n.5905A>T
c.1869+1683A>T (n.1869+1683A>T)
c.3537A>T (p.Thr1179=)
c.3549A>T (p.Thr1183=)
c.3522A>T (p.Thr1174=)
c.3468A>T (p.Thr1156=)
c.2868A>T (p.Thr956=)
c.3816A>T (p.Thr1272=)
c.3813A>T (p.Thr1271=)
c.3732A>T (p.Thr1244=)
c.3663A>T (p.Thr1221=)
c.3531A>T (p.Thr1177=)
c.3399A>T (p.Thr1133=)
20g.32436265G>ACA408563306ASXL1c.3553G>A (p.Gly1185Ser)
c.3370G>A (p.Gly1124Ser)
n.5906G>A
c.1869+1684G>A (n.1869+1684G>A)
c.3538G>A (p.Gly1180Ser)
c.3550G>A (p.Gly1184Ser)
c.3523G>A (p.Gly1175Ser)
c.3469G>A (p.Gly1157Ser)
c.2869G>A (p.Gly957Ser)
c.3817G>A (p.Gly1273Ser)
c.3814G>A (p.Gly1272Ser)
c.3733G>A (p.Gly1245Ser)
c.3664G>A (p.Gly1222Ser)
c.3532G>A (p.Gly1178Ser)
c.3400G>A (p.Gly1134Ser)
20g.32436265G>CCA408563307ASXL1c.3553G>C (p.Gly1185Arg)
c.3370G>C (p.Gly1124Arg)
n.5906G>C
c.1869+1684G>C (n.1869+1684G>C)
c.3538G>C (p.Gly1180Arg)
c.3550G>C (p.Gly1184Arg)
c.3523G>C (p.Gly1175Arg)
c.3469G>C (p.Gly1157Arg)
c.2869G>C (p.Gly957Arg)
c.3817G>C (p.Gly1273Arg)
c.3814G>C (p.Gly1272Arg)
c.3733G>C (p.Gly1245Arg)
c.3664G>C (p.Gly1222Arg)
c.3532G>C (p.Gly1178Arg)
c.3400G>C (p.Gly1134Arg)
20g.32436265G>TCA408563308ASXL1c.3553G>T (p.Gly1185Cys)
c.3370G>T (p.Gly1124Cys)
n.5906G>T
c.1869+1684G>T (n.1869+1684G>T)
c.3538G>T (p.Gly1180Cys)
c.3550G>T (p.Gly1184Cys)
c.3523G>T (p.Gly1175Cys)
c.3469G>T (p.Gly1157Cys)
c.2869G>T (p.Gly957Cys)
c.3817G>T (p.Gly1273Cys)
c.3814G>T (p.Gly1272Cys)
c.3733G>T (p.Gly1245Cys)
c.3664G>T (p.Gly1222Cys)
c.3532G>T (p.Gly1178Cys)
c.3400G>T (p.Gly1134Cys)
20g.32436266G>ACA408563309ASXL1c.3554G>A (p.Gly1185Asp)
c.3371G>A (p.Gly1124Asp)
n.5907G>A
c.1869+1685G>A (n.1869+1685G>A)
c.3539G>A (p.Gly1180Asp)
c.3551G>A (p.Gly1184Asp)
c.3524G>A (p.Gly1175Asp)
c.3470G>A (p.Gly1157Asp)
c.2870G>A (p.Gly957Asp)
c.3818G>A (p.Gly1273Asp)
c.3815G>A (p.Gly1272Asp)
c.3734G>A (p.Gly1245Asp)
c.3665G>A (p.Gly1222Asp)
c.3533G>A (p.Gly1178Asp)
c.3401G>A (p.Gly1134Asp)
 dbSNP gnomAD v3 gnomAD v4
20g.32436266G>CCA408563310ASXL1c.3554G>C (p.Gly1185Ala)
c.3371G>C (p.Gly1124Ala)
n.5907G>C
c.1869+1685G>C (n.1869+1685G>C)
c.3539G>C (p.Gly1180Ala)
c.3551G>C (p.Gly1184Ala)
c.3524G>C (p.Gly1175Ala)
c.3470G>C (p.Gly1157Ala)
c.2870G>C (p.Gly957Ala)
c.3818G>C (p.Gly1273Ala)
c.3815G>C (p.Gly1272Ala)
c.3734G>C (p.Gly1245Ala)
c.3665G>C (p.Gly1222Ala)
c.3533G>C (p.Gly1178Ala)
c.3401G>C (p.Gly1134Ala)
20g.32436266G=CA2360293616ASXL1c.3554G= (p.Gly1185=)
c.3371G= (p.Gly1124=)
n.5907G=
c.1869+1685G= (n.1869+1685G=)
c.3539G= (p.Gly1180=)
c.3551G= (p.Gly1184=)
c.3524G= (p.Gly1175=)
c.3470G= (p.Gly1157=)
c.2870G= (p.Gly957=)
c.3818G= (p.Gly1273=)
c.3815G= (p.Gly1272=)
c.3734G= (p.Gly1245=)
c.3665G= (p.Gly1222=)
c.3533G= (p.Gly1178=)
c.3401G= (p.Gly1134=)
20g.32436266G>TCA408563311ASXL1c.3554G>T (p.Gly1185Val)
c.3371G>T (p.Gly1124Val)
n.5907G>T
c.1869+1685G>T (n.1869+1685G>T)
c.3539G>T (p.Gly1180Val)
c.3551G>T (p.Gly1184Val)
c.3524G>T (p.Gly1175Val)
c.3470G>T (p.Gly1157Val)
c.2870G>T (p.Gly957Val)
c.3818G>T (p.Gly1273Val)
c.3815G>T (p.Gly1272Val)
c.3734G>T (p.Gly1245Val)
c.3665G>T (p.Gly1222Val)
c.3533G>T (p.Gly1178Val)
c.3401G>T (p.Gly1134Val)
20g.32436267C>ACA510467301ASXL1c.3555C>A (p.Gly1185=)
c.3372C>A (p.Gly1124=)
n.5908C>A
c.1869+1686C>A (n.1869+1686C>A)
c.3540C>A (p.Gly1180=)
c.3552C>A (p.Gly1184=)
c.3525C>A (p.Gly1175=)
c.3471C>A (p.Gly1157=)
c.2871C>A (p.Gly957=)
c.3819C>A (p.Gly1273=)
c.3816C>A (p.Gly1272=)
c.3735C>A (p.Gly1245=)
c.3666C>A (p.Gly1222=)
c.3534C>A (p.Gly1178=)
c.3402C>A (p.Gly1134=)
20g.32436267C>GCA510467302ASXL1c.3555C>G (p.Gly1185=)
c.3372C>G (p.Gly1124=)
n.5908C>G
c.1869+1686C>G (n.1869+1686C>G)
c.3540C>G (p.Gly1180=)
c.3552C>G (p.Gly1184=)
c.3525C>G (p.Gly1175=)
c.3471C>G (p.Gly1157=)
c.2871C>G (p.Gly957=)
c.3819C>G (p.Gly1273=)
c.3816C>G (p.Gly1272=)
c.3735C>G (p.Gly1245=)
c.3666C>G (p.Gly1222=)
c.3534C>G (p.Gly1178=)
c.3402C>G (p.Gly1134=)
20g.32436267C>TCA510467304ASXL1c.3555C>T (p.Gly1185=)
c.3372C>T (p.Gly1124=)
n.5908C>T
c.1869+1686C>T (n.1869+1686C>T)
c.3540C>T (p.Gly1180=)
c.3552C>T (p.Gly1184=)
c.3525C>T (p.Gly1175=)
c.3471C>T (p.Gly1157=)
c.2871C>T (p.Gly957=)
c.3819C>T (p.Gly1273=)
c.3816C>T (p.Gly1272=)
c.3735C>T (p.Gly1245=)
c.3666C>T (p.Gly1222=)
c.3534C>T (p.Gly1178=)
c.3402C>T (p.Gly1134=)
20g.32436268A=CA2360293617ASXL1c.3556A= (p.Thr1186=)
c.3373A= (p.Thr1125=)
n.5909A=
c.1869+1687A= (n.1869+1687A=)
c.3541A= (p.Thr1181=)
c.3553A= (p.Thr1185=)
c.3526A= (p.Thr1176=)
c.3472A= (p.Thr1158=)
c.2872A= (p.Thr958=)
c.3820A= (p.Thr1274=)
c.3817A= (p.Thr1273=)
c.3736A= (p.Thr1246=)
c.3667A= (p.Thr1223=)
c.3535A= (p.Thr1179=)
c.3403A= (p.Thr1135=)
20g.32436268A>CCA313926350ASXL1c.3556A>C (p.Thr1186Pro)
c.3373A>C (p.Thr1125Pro)
n.5909A>C
c.1869+1687A>C (n.1869+1687A>C)
c.3541A>C (p.Thr1181Pro)
c.3553A>C (p.Thr1185Pro)
c.3526A>C (p.Thr1176Pro)
c.3472A>C (p.Thr1158Pro)
c.2872A>C (p.Thr958Pro)
c.3820A>C (p.Thr1274Pro)
c.3817A>C (p.Thr1273Pro)
c.3736A>C (p.Thr1246Pro)
c.3667A>C (p.Thr1223Pro)
c.3535A>C (p.Thr1179Pro)
c.3403A>C (p.Thr1135Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436268A>GCA408563312ASXL1c.3556A>G (p.Thr1186Ala)
c.3373A>G (p.Thr1125Ala)
n.5909A>G
c.1869+1687A>G (n.1869+1687A>G)
c.3541A>G (p.Thr1181Ala)
c.3553A>G (p.Thr1185Ala)
c.3526A>G (p.Thr1176Ala)
c.3472A>G (p.Thr1158Ala)
c.2872A>G (p.Thr958Ala)
c.3820A>G (p.Thr1274Ala)
c.3817A>G (p.Thr1273Ala)
c.3736A>G (p.Thr1246Ala)
c.3667A>G (p.Thr1223Ala)
c.3535A>G (p.Thr1179Ala)
c.3403A>G (p.Thr1135Ala)
 ClinVar
20g.32436268A>TCA408563313ASXL1c.3556A>T (p.Thr1186Ser)
c.3373A>T (p.Thr1125Ser)
n.5909A>T
c.1869+1687A>T (n.1869+1687A>T)
c.3541A>T (p.Thr1181Ser)
c.3553A>T (p.Thr1185Ser)
c.3526A>T (p.Thr1176Ser)
c.3472A>T (p.Thr1158Ser)
c.2872A>T (p.Thr958Ser)
c.3820A>T (p.Thr1274Ser)
c.3817A>T (p.Thr1273Ser)
c.3736A>T (p.Thr1246Ser)
c.3667A>T (p.Thr1223Ser)
c.3535A>T (p.Thr1179Ser)
c.3403A>T (p.Thr1135Ser)
 gnomAD v4
20g.32436269C>ACA408563316ASXL1c.3557C>A (p.Thr1186Asn)
c.3374C>A (p.Thr1125Asn)
n.5910C>A
c.1869+1688C>A (n.1869+1688C>A)
c.3542C>A (p.Thr1181Asn)
c.3554C>A (p.Thr1185Asn)
c.3527C>A (p.Thr1176Asn)
c.3473C>A (p.Thr1158Asn)
c.2873C>A (p.Thr958Asn)
c.3821C>A (p.Thr1274Asn)
c.3818C>A (p.Thr1273Asn)
c.3737C>A (p.Thr1246Asn)
c.3668C>A (p.Thr1223Asn)
c.3536C>A (p.Thr1179Asn)
c.3404C>A (p.Thr1135Asn)
20g.32436269C=CA2360293618ASXL1c.3557C= (p.Thr1186=)
c.3374C= (p.Thr1125=)
n.5910C=
c.1869+1688C= (n.1869+1688C=)
c.3542C= (p.Thr1181=)
c.3554C= (p.Thr1185=)
c.3527C= (p.Thr1176=)
c.3473C= (p.Thr1158=)
c.2873C= (p.Thr958=)
c.3821C= (p.Thr1274=)
c.3818C= (p.Thr1273=)
c.3737C= (p.Thr1246=)
c.3668C= (p.Thr1223=)
c.3536C= (p.Thr1179=)
c.3404C= (p.Thr1135=)
20g.32436269C>GCA408563315ASXL1c.3557C>G (p.Thr1186Ser)
c.3374C>G (p.Thr1125Ser)
n.5910C>G
c.1869+1688C>G (n.1869+1688C>G)
c.3542C>G (p.Thr1181Ser)
c.3554C>G (p.Thr1185Ser)
c.3527C>G (p.Thr1176Ser)
c.3473C>G (p.Thr1158Ser)
c.2873C>G (p.Thr958Ser)
c.3821C>G (p.Thr1274Ser)
c.3818C>G (p.Thr1273Ser)
c.3737C>G (p.Thr1246Ser)
c.3668C>G (p.Thr1223Ser)
c.3536C>G (p.Thr1179Ser)
c.3404C>G (p.Thr1135Ser)
 dbSNP
20g.32436269C>TCA408563314ASXL1c.3557C>T (p.Thr1186Ile)
c.3374C>T (p.Thr1125Ile)
n.5910C>T
c.1869+1688C>T (n.1869+1688C>T)
c.3542C>T (p.Thr1181Ile)
c.3554C>T (p.Thr1185Ile)
c.3527C>T (p.Thr1176Ile)
c.3473C>T (p.Thr1158Ile)
c.2873C>T (p.Thr958Ile)
c.3821C>T (p.Thr1274Ile)
c.3818C>T (p.Thr1273Ile)
c.3737C>T (p.Thr1246Ile)
c.3668C>T (p.Thr1223Ile)
c.3536C>T (p.Thr1179Ile)
c.3404C>T (p.Thr1135Ile)
 COSMIC COSMIC
20g.32436270T>ACA510467307ASXL1c.3558T>A (p.Thr1186=)
c.3375T>A (p.Thr1125=)
n.5911T>A
c.1869+1689T>A (n.1869+1689T>A)
c.3543T>A (p.Thr1181=)
c.3555T>A (p.Thr1185=)
c.3528T>A (p.Thr1176=)
c.3474T>A (p.Thr1158=)
c.2874T>A (p.Thr958=)
c.3822T>A (p.Thr1274=)
c.3819T>A (p.Thr1273=)
c.3738T>A (p.Thr1246=)
c.3669T>A (p.Thr1223=)
c.3537T>A (p.Thr1179=)
c.3405T>A (p.Thr1135=)
 dbSNP
20g.32436270T>CCA313926351ASXL1c.3558T>C (p.Thr1186=)
c.3375T>C (p.Thr1125=)
n.5911T>C
c.1869+1689T>C (n.1869+1689T>C)
c.3543T>C (p.Thr1181=)
c.3555T>C (p.Thr1185=)
c.3528T>C (p.Thr1176=)
c.3474T>C (p.Thr1158=)
c.2874T>C (p.Thr958=)
c.3822T>C (p.Thr1274=)
c.3819T>C (p.Thr1273=)
c.3738T>C (p.Thr1246=)
c.3669T>C (p.Thr1223=)
c.3537T>C (p.Thr1179=)
c.3405T>C (p.Thr1135=)
 dbSNP
20g.32436270T>GCA510467308ASXL1c.3558T>G (p.Thr1186=)
c.3375T>G (p.Thr1125=)
n.5911T>G
c.1869+1689T>G (n.1869+1689T>G)
c.3543T>G (p.Thr1181=)
c.3555T>G (p.Thr1185=)
c.3528T>G (p.Thr1176=)
c.3474T>G (p.Thr1158=)
c.2874T>G (p.Thr958=)
c.3822T>G (p.Thr1274=)
c.3819T>G (p.Thr1273=)
c.3738T>G (p.Thr1246=)
c.3669T>G (p.Thr1223=)
c.3537T>G (p.Thr1179=)
c.3405T>G (p.Thr1135=)
20g.32436270T=CA2360293619ASXL1c.3558T= (p.Thr1186=)
c.3375T= (p.Thr1125=)
n.5911T=
c.1869+1689T= (n.1869+1689T=)
c.3543T= (p.Thr1181=)
c.3555T= (p.Thr1185=)
c.3528T= (p.Thr1176=)
c.3474T= (p.Thr1158=)
c.2874T= (p.Thr958=)
c.3822T= (p.Thr1274=)
c.3819T= (p.Thr1273=)
c.3738T= (p.Thr1246=)
c.3669T= (p.Thr1223=)
c.3537T= (p.Thr1179=)
c.3405T= (p.Thr1135=)
20g.32436271G>ACA408563317ASXL1c.3559G>A (p.Gly1187Ser)
c.3376G>A (p.Gly1126Ser)
n.5912G>A
c.1869+1690G>A (n.1869+1690G>A)
c.3544G>A (p.Gly1182Ser)
c.3556G>A (p.Gly1186Ser)
c.3529G>A (p.Gly1177Ser)
c.3475G>A (p.Gly1159Ser)
c.2875G>A (p.Gly959Ser)
c.3823G>A (p.Gly1275Ser)
c.3820G>A (p.Gly1274Ser)
c.3739G>A (p.Gly1247Ser)
c.3670G>A (p.Gly1224Ser)
c.3538G>A (p.Gly1180Ser)
c.3406G>A (p.Gly1136Ser)
 gnomAD v4
20g.32436271G>CCA408563318ASXL1c.3559G>C (p.Gly1187Arg)
c.3376G>C (p.Gly1126Arg)
n.5912G>C
c.1869+1690G>C (n.1869+1690G>C)
c.3544G>C (p.Gly1182Arg)
c.3556G>C (p.Gly1186Arg)
c.3529G>C (p.Gly1177Arg)
c.3475G>C (p.Gly1159Arg)
c.2875G>C (p.Gly959Arg)
c.3823G>C (p.Gly1275Arg)
c.3820G>C (p.Gly1274Arg)
c.3739G>C (p.Gly1247Arg)
c.3670G>C (p.Gly1224Arg)
c.3538G>C (p.Gly1180Arg)
c.3406G>C (p.Gly1136Arg)
20g.32436271G>TCA408563319ASXL1c.3559G>T (p.Gly1187Cys)
c.3376G>T (p.Gly1126Cys)
n.5912G>T
c.1869+1690G>T (n.1869+1690G>T)
c.3544G>T (p.Gly1182Cys)
c.3556G>T (p.Gly1186Cys)
c.3529G>T (p.Gly1177Cys)
c.3475G>T (p.Gly1159Cys)
c.2875G>T (p.Gly959Cys)
c.3823G>T (p.Gly1275Cys)
c.3820G>T (p.Gly1274Cys)
c.3739G>T (p.Gly1247Cys)
c.3670G>T (p.Gly1224Cys)
c.3538G>T (p.Gly1180Cys)
c.3406G>T (p.Gly1136Cys)
20g.32436272G>ACA9808852ASXL1c.3560G>A (p.Gly1187Asp)
c.3377G>A (p.Gly1126Asp)
n.5913G>A
c.1869+1691G>A (n.1869+1691G>A)
c.3545G>A (p.Gly1182Asp)
c.3557G>A (p.Gly1186Asp)
c.3530G>A (p.Gly1177Asp)
c.3476G>A (p.Gly1159Asp)
c.2876G>A (p.Gly959Asp)
c.3824G>A (p.Gly1275Asp)
c.3821G>A (p.Gly1274Asp)
c.3740G>A (p.Gly1247Asp)
c.3671G>A (p.Gly1224Asp)
c.3539G>A (p.Gly1180Asp)
c.3407G>A (p.Gly1136Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436272G>CCA408563320ASXL1c.3560G>C (p.Gly1187Ala)
c.3377G>C (p.Gly1126Ala)
n.5913G>C
c.1869+1691G>C (n.1869+1691G>C)
c.3545G>C (p.Gly1182Ala)
c.3557G>C (p.Gly1186Ala)
c.3530G>C (p.Gly1177Ala)
c.3476G>C (p.Gly1159Ala)
c.2876G>C (p.Gly959Ala)
c.3824G>C (p.Gly1275Ala)
c.3821G>C (p.Gly1274Ala)
c.3740G>C (p.Gly1247Ala)
c.3671G>C (p.Gly1224Ala)
c.3539G>C (p.Gly1180Ala)
c.3407G>C (p.Gly1136Ala)
20g.32436272G=CA2360293620ASXL1c.3560G= (p.Gly1187=)
c.3377G= (p.Gly1126=)
n.5913G=
c.1869+1691G= (n.1869+1691G=)
c.3545G= (p.Gly1182=)
c.3557G= (p.Gly1186=)
c.3530G= (p.Gly1177=)
c.3476G= (p.Gly1159=)
c.2876G= (p.Gly959=)
c.3824G= (p.Gly1275=)
c.3821G= (p.Gly1274=)
c.3740G= (p.Gly1247=)
c.3671G= (p.Gly1224=)
c.3539G= (p.Gly1180=)
c.3407G= (p.Gly1136=)
20g.32436272G>TCA9808851ASXL1c.3560G>T (p.Gly1187Val)
c.3377G>T (p.Gly1126Val)
n.5913G>T
c.1869+1691G>T (n.1869+1691G>T)
c.3545G>T (p.Gly1182Val)
c.3557G>T (p.Gly1186Val)
c.3530G>T (p.Gly1177Val)
c.3476G>T (p.Gly1159Val)
c.2876G>T (p.Gly959Val)
c.3824G>T (p.Gly1275Val)
c.3821G>T (p.Gly1274Val)
c.3740G>T (p.Gly1247Val)
c.3671G>T (p.Gly1224Val)
c.3539G>T (p.Gly1180Val)
c.3407G>T (p.Gly1136Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436273T>ACA510467309ASXL1c.3561T>A (p.Gly1187=)
c.3378T>A (p.Gly1126=)
n.5914T>A
c.1869+1692T>A (n.1869+1692T>A)
c.3546T>A (p.Gly1182=)
c.3558T>A (p.Gly1186=)
c.3531T>A (p.Gly1177=)
c.3477T>A (p.Gly1159=)
c.2877T>A (p.Gly959=)
c.3825T>A (p.Gly1275=)
c.3822T>A (p.Gly1274=)
c.3741T>A (p.Gly1247=)
c.3672T>A (p.Gly1224=)
c.3540T>A (p.Gly1180=)
c.3408T>A (p.Gly1136=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436273T>CCA510467310ASXL1c.3561T>C (p.Gly1187=)
c.3378T>C (p.Gly1126=)
n.5914T>C
c.1869+1692T>C (n.1869+1692T>C)
c.3546T>C (p.Gly1182=)
c.3558T>C (p.Gly1186=)
c.3531T>C (p.Gly1177=)
c.3477T>C (p.Gly1159=)
c.2877T>C (p.Gly959=)
c.3825T>C (p.Gly1275=)
c.3822T>C (p.Gly1274=)
c.3741T>C (p.Gly1247=)
c.3672T>C (p.Gly1224=)
c.3540T>C (p.Gly1180=)
c.3408T>C (p.Gly1136=)
20g.32436273T>GCA510467311ASXL1c.3561T>G (p.Gly1187=)
c.3378T>G (p.Gly1126=)
n.5914T>G
c.1869+1692T>G (n.1869+1692T>G)
c.3546T>G (p.Gly1182=)
c.3558T>G (p.Gly1186=)
c.3531T>G (p.Gly1177=)
c.3477T>G (p.Gly1159=)
c.2877T>G (p.Gly959=)
c.3825T>G (p.Gly1275=)
c.3822T>G (p.Gly1274=)
c.3741T>G (p.Gly1247=)
c.3672T>G (p.Gly1224=)
c.3540T>G (p.Gly1180=)
c.3408T>G (p.Gly1136=)
 dbSNP gnomAD v4
20g.32436273T=CA2360293621ASXL1c.3561T= (p.Gly1187=)
c.3378T= (p.Gly1126=)
n.5914T=
c.1869+1692T= (n.1869+1692T=)
c.3546T= (p.Gly1182=)
c.3558T= (p.Gly1186=)
c.3531T= (p.Gly1177=)
c.3477T= (p.Gly1159=)
c.2877T= (p.Gly959=)
c.3825T= (p.Gly1275=)
c.3822T= (p.Gly1274=)
c.3741T= (p.Gly1247=)
c.3672T= (p.Gly1224=)
c.3540T= (p.Gly1180=)
c.3408T= (p.Gly1136=)
20g.32436274C>ACA9808853ASXL1c.3562C>A (p.Leu1188Ile)
c.3379C>A (p.Leu1127Ile)
n.5915C>A
c.1869+1693C>A (n.1869+1693C>A)
c.3547C>A (p.Leu1183Ile)
c.3559C>A (p.Leu1187Ile)
c.3532C>A (p.Leu1178Ile)
c.3478C>A (p.Leu1160Ile)
c.2878C>A (p.Leu960Ile)
c.3826C>A (p.Leu1276Ile)
c.3823C>A (p.Leu1275Ile)
c.3742C>A (p.Leu1248Ile)
c.3673C>A (p.Leu1225Ile)
c.3541C>A (p.Leu1181Ile)
c.3409C>A (p.Leu1137Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436274C=CA2360293622ASXL1c.3562C= (p.Leu1188=)
c.3379C= (p.Leu1127=)
n.5915C=
c.1869+1693C= (n.1869+1693C=)
c.3547C= (p.Leu1183=)
c.3559C= (p.Leu1187=)
c.3532C= (p.Leu1178=)
c.3478C= (p.Leu1160=)
c.2878C= (p.Leu960=)
c.3826C= (p.Leu1276=)
c.3823C= (p.Leu1275=)
c.3742C= (p.Leu1248=)
c.3673C= (p.Leu1225=)
c.3541C= (p.Leu1181=)
c.3409C= (p.Leu1137=)
20g.32436274C>GCA408563321ASXL1c.3562C>G (p.Leu1188Val)
c.3379C>G (p.Leu1127Val)
n.5915C>G
c.1869+1693C>G (n.1869+1693C>G)
c.3547C>G (p.Leu1183Val)
c.3559C>G (p.Leu1187Val)
c.3532C>G (p.Leu1178Val)
c.3478C>G (p.Leu1160Val)
c.2878C>G (p.Leu960Val)
c.3826C>G (p.Leu1276Val)
c.3823C>G (p.Leu1275Val)
c.3742C>G (p.Leu1248Val)
c.3673C>G (p.Leu1225Val)
c.3541C>G (p.Leu1181Val)
c.3409C>G (p.Leu1137Val)
20g.32436274C>TCA408563322ASXL1c.3562C>T (p.Leu1188Phe)
c.3379C>T (p.Leu1127Phe)
n.5915C>T
c.1869+1693C>T (n.1869+1693C>T)
c.3547C>T (p.Leu1183Phe)
c.3559C>T (p.Leu1187Phe)
c.3532C>T (p.Leu1178Phe)
c.3478C>T (p.Leu1160Phe)
c.2878C>T (p.Leu960Phe)
c.3826C>T (p.Leu1276Phe)
c.3823C>T (p.Leu1275Phe)
c.3742C>T (p.Leu1248Phe)
c.3673C>T (p.Leu1225Phe)
c.3541C>T (p.Leu1181Phe)
c.3409C>T (p.Leu1137Phe)
20g.32436275T>ACA408563323ASXL1c.3563T>A (p.Leu1188His)
c.3380T>A (p.Leu1127His)
n.5916T>A
c.1869+1694T>A (n.1869+1694T>A)
c.3548T>A (p.Leu1183His)
c.3560T>A (p.Leu1187His)
c.3533T>A (p.Leu1178His)
c.3479T>A (p.Leu1160His)
c.2879T>A (p.Leu960His)
c.3827T>A (p.Leu1276His)
c.3824T>A (p.Leu1275His)
c.3743T>A (p.Leu1248His)
c.3674T>A (p.Leu1225His)
c.3542T>A (p.Leu1181His)
c.3410T>A (p.Leu1137His)
20g.32436275T>CCA408563324ASXL1c.3563T>C (p.Leu1188Pro)
c.3380T>C (p.Leu1127Pro)
n.5916T>C
c.1869+1694T>C (n.1869+1694T>C)
c.3548T>C (p.Leu1183Pro)
c.3560T>C (p.Leu1187Pro)
c.3533T>C (p.Leu1178Pro)
c.3479T>C (p.Leu1160Pro)
c.2879T>C (p.Leu960Pro)
c.3827T>C (p.Leu1276Pro)
c.3824T>C (p.Leu1275Pro)
c.3743T>C (p.Leu1248Pro)
c.3674T>C (p.Leu1225Pro)
c.3542T>C (p.Leu1181Pro)
c.3410T>C (p.Leu1137Pro)
20g.32436275T>GCA408563325ASXL1c.3563T>G (p.Leu1188Arg)
c.3380T>G (p.Leu1127Arg)
n.5916T>G
c.1869+1694T>G (n.1869+1694T>G)
c.3548T>G (p.Leu1183Arg)
c.3560T>G (p.Leu1187Arg)
c.3533T>G (p.Leu1178Arg)
c.3479T>G (p.Leu1160Arg)
c.2879T>G (p.Leu960Arg)
c.3827T>G (p.Leu1276Arg)
c.3824T>G (p.Leu1275Arg)
c.3743T>G (p.Leu1248Arg)
c.3674T>G (p.Leu1225Arg)
c.3542T>G (p.Leu1181Arg)
c.3410T>G (p.Leu1137Arg)
20g.32436276T>ACA510467314ASXL1c.3564T>A (p.Leu1188=)
c.3381T>A (p.Leu1127=)
n.5917T>A
c.1869+1695T>A (n.1869+1695T>A)
c.3549T>A (p.Leu1183=)
c.3561T>A (p.Leu1187=)
c.3534T>A (p.Leu1178=)
c.3480T>A (p.Leu1160=)
c.2880T>A (p.Leu960=)
c.3828T>A (p.Leu1276=)
c.3825T>A (p.Leu1275=)
c.3744T>A (p.Leu1248=)
c.3675T>A (p.Leu1225=)
c.3543T>A (p.Leu1181=)
c.3411T>A (p.Leu1137=)
20g.32436276T>CCA510467313ASXL1c.3564T>C (p.Leu1188=)
c.3381T>C (p.Leu1127=)
n.5917T>C
c.1869+1695T>C (n.1869+1695T>C)
c.3549T>C (p.Leu1183=)
c.3561T>C (p.Leu1187=)
c.3534T>C (p.Leu1178=)
c.3480T>C (p.Leu1160=)
c.2880T>C (p.Leu960=)
c.3828T>C (p.Leu1276=)
c.3825T>C (p.Leu1275=)
c.3744T>C (p.Leu1248=)
c.3675T>C (p.Leu1225=)
c.3543T>C (p.Leu1181=)
c.3411T>C (p.Leu1137=)
20g.32436276T>GCA510467312ASXL1c.3564T>G (p.Leu1188=)
c.3381T>G (p.Leu1127=)
n.5917T>G
c.1869+1695T>G (n.1869+1695T>G)
c.3549T>G (p.Leu1183=)
c.3561T>G (p.Leu1187=)
c.3534T>G (p.Leu1178=)
c.3480T>G (p.Leu1160=)
c.2880T>G (p.Leu960=)
c.3828T>G (p.Leu1276=)
c.3825T>G (p.Leu1275=)
c.3744T>G (p.Leu1248=)
c.3675T>G (p.Leu1225=)
c.3543T>G (p.Leu1181=)
c.3411T>G (p.Leu1137=)
20g.32436277G>ACA408563328ASXL1c.3565G>A (p.Ala1189Thr)
c.3382G>A (p.Ala1128Thr)
n.5918G>A
c.1869+1696G>A (n.1869+1696G>A)
c.3550G>A (p.Ala1184Thr)
c.3562G>A (p.Ala1188Thr)
c.3535G>A (p.Ala1179Thr)
c.3481G>A (p.Ala1161Thr)
c.2881G>A (p.Ala961Thr)
c.3829G>A (p.Ala1277Thr)
c.3826G>A (p.Ala1276Thr)
c.3745G>A (p.Ala1249Thr)
c.3676G>A (p.Ala1226Thr)
c.3544G>A (p.Ala1182Thr)
c.3412G>A (p.Ala1138Thr)
 ClinVar dbSNP
20g.32436277G>CCA408563327ASXL1c.3565G>C (p.Ala1189Pro)
c.3382G>C (p.Ala1128Pro)
n.5918G>C
c.1869+1696G>C (n.1869+1696G>C)
c.3550G>C (p.Ala1184Pro)
c.3562G>C (p.Ala1188Pro)
c.3535G>C (p.Ala1179Pro)
c.3481G>C (p.Ala1161Pro)
c.2881G>C (p.Ala961Pro)
c.3829G>C (p.Ala1277Pro)
c.3826G>C (p.Ala1276Pro)
c.3745G>C (p.Ala1249Pro)
c.3676G>C (p.Ala1226Pro)
c.3544G>C (p.Ala1182Pro)
c.3412G>C (p.Ala1138Pro)
20g.32436277G>TCA408563326ASXL1c.3565G>T (p.Ala1189Ser)
c.3382G>T (p.Ala1128Ser)
n.5918G>T
c.1869+1696G>T (n.1869+1696G>T)
c.3550G>T (p.Ala1184Ser)
c.3562G>T (p.Ala1188Ser)
c.3535G>T (p.Ala1179Ser)
c.3481G>T (p.Ala1161Ser)
c.2881G>T (p.Ala961Ser)
c.3829G>T (p.Ala1277Ser)
c.3826G>T (p.Ala1276Ser)
c.3745G>T (p.Ala1249Ser)
c.3676G>T (p.Ala1226Ser)
c.3544G>T (p.Ala1182Ser)
c.3412G>T (p.Ala1138Ser)
20g.32436278C>ACA408563329ASXL1c.3566C>A (p.Ala1189Asp)
c.3383C>A (p.Ala1128Asp)
n.5919C>A
c.1869+1697C>A (n.1869+1697C>A)
c.3551C>A (p.Ala1184Asp)
c.3563C>A (p.Ala1188Asp)
c.3536C>A (p.Ala1179Asp)
c.3482C>A (p.Ala1161Asp)
c.2882C>A (p.Ala961Asp)
c.3830C>A (p.Ala1277Asp)
c.3827C>A (p.Ala1276Asp)
c.3746C>A (p.Ala1249Asp)
c.3677C>A (p.Ala1226Asp)
c.3545C>A (p.Ala1182Asp)
c.3413C>A (p.Ala1138Asp)
20g.32436278C>GCA408563330ASXL1c.3566C>G (p.Ala1189Gly)
c.3383C>G (p.Ala1128Gly)
n.5919C>G
c.1869+1697C>G (n.1869+1697C>G)
c.3551C>G (p.Ala1184Gly)
c.3563C>G (p.Ala1188Gly)
c.3536C>G (p.Ala1179Gly)
c.3482C>G (p.Ala1161Gly)
c.2882C>G (p.Ala961Gly)
c.3830C>G (p.Ala1277Gly)
c.3827C>G (p.Ala1276Gly)
c.3746C>G (p.Ala1249Gly)
c.3677C>G (p.Ala1226Gly)
c.3545C>G (p.Ala1182Gly)
c.3413C>G (p.Ala1138Gly)
20g.32436278C>TCA408563331ASXL1c.3566C>T (p.Ala1189Val)
c.3383C>T (p.Ala1128Val)
n.5919C>T
c.1869+1697C>T (n.1869+1697C>T)
c.3551C>T (p.Ala1184Val)
c.3563C>T (p.Ala1188Val)
c.3536C>T (p.Ala1179Val)
c.3482C>T (p.Ala1161Val)
c.2882C>T (p.Ala961Val)
c.3830C>T (p.Ala1277Val)
c.3827C>T (p.Ala1276Val)
c.3746C>T (p.Ala1249Val)
c.3677C>T (p.Ala1226Val)
c.3545C>T (p.Ala1182Val)
c.3413C>T (p.Ala1138Val)
20g.32436279C>ACA510467316ASXL1c.3567C>A (p.Ala1189=)
c.3384C>A (p.Ala1128=)
n.5920C>A
c.1869+1698C>A (n.1869+1698C>A)
c.3552C>A (p.Ala1184=)
c.3564C>A (p.Ala1188=)
c.3537C>A (p.Ala1179=)
c.3483C>A (p.Ala1161=)
c.2883C>A (p.Ala961=)
c.3831C>A (p.Ala1277=)
c.3828C>A (p.Ala1276=)
c.3747C>A (p.Ala1249=)
c.3678C>A (p.Ala1226=)
c.3546C>A (p.Ala1182=)
c.3414C>A (p.Ala1138=)
20g.32436279C>GCA510467317ASXL1c.3567C>G (p.Ala1189=)
c.3384C>G (p.Ala1128=)
n.5920C>G
c.1869+1698C>G (n.1869+1698C>G)
c.3552C>G (p.Ala1184=)
c.3564C>G (p.Ala1188=)
c.3537C>G (p.Ala1179=)
c.3483C>G (p.Ala1161=)
c.2883C>G (p.Ala961=)
c.3831C>G (p.Ala1277=)
c.3828C>G (p.Ala1276=)
c.3747C>G (p.Ala1249=)
c.3678C>G (p.Ala1226=)
c.3546C>G (p.Ala1182=)
c.3414C>G (p.Ala1138=)
20g.32436279C>TCA510467318ASXL1c.3567C>T (p.Ala1189=)
c.3384C>T (p.Ala1128=)
n.5920C>T
c.1869+1698C>T (n.1869+1698C>T)
c.3552C>T (p.Ala1184=)
c.3564C>T (p.Ala1188=)
c.3537C>T (p.Ala1179=)
c.3483C>T (p.Ala1161=)
c.2883C>T (p.Ala961=)
c.3831C>T (p.Ala1277=)
c.3828C>T (p.Ala1276=)
c.3747C>T (p.Ala1249=)
c.3678C>T (p.Ala1226=)
c.3546C>T (p.Ala1182=)
c.3414C>T (p.Ala1138=)
20g.32436280A=CA2360293623ASXL1c.3568A= (p.Arg1190=)
c.3385A= (p.Arg1129=)
n.5921A=
c.1869+1699A= (n.1869+1699A=)
c.3553A= (p.Arg1185=)
c.3565A= (p.Arg1189=)
c.3538A= (p.Arg1180=)
c.3484A= (p.Arg1162=)
c.2884A= (p.Arg962=)
c.3832A= (p.Arg1278=)
c.3829A= (p.Arg1277=)
c.3748A= (p.Arg1250=)
c.3679A= (p.Arg1227=)
c.3547A= (p.Arg1183=)
c.3415A= (p.Arg1139=)
20g.32436280A>CCA510467319ASXL1c.3568A>C (p.Arg1190=)
c.3385A>C (p.Arg1129=)
n.5921A>C
c.1869+1699A>C (n.1869+1699A>C)
c.3553A>C (p.Arg1185=)
c.3565A>C (p.Arg1189=)
c.3538A>C (p.Arg1180=)
c.3484A>C (p.Arg1162=)
c.2884A>C (p.Arg962=)
c.3832A>C (p.Arg1278=)
c.3829A>C (p.Arg1277=)
c.3748A>C (p.Arg1250=)
c.3679A>C (p.Arg1227=)
c.3547A>C (p.Arg1183=)
c.3415A>C (p.Arg1139=)
20g.32436280A>GCA408563332ASXL1c.3568A>G (p.Arg1190Gly)
c.3385A>G (p.Arg1129Gly)
n.5921A>G
c.1869+1699A>G (n.1869+1699A>G)
c.3553A>G (p.Arg1185Gly)
c.3565A>G (p.Arg1189Gly)
c.3538A>G (p.Arg1180Gly)
c.3484A>G (p.Arg1162Gly)
c.2884A>G (p.Arg962Gly)
c.3832A>G (p.Arg1278Gly)
c.3829A>G (p.Arg1277Gly)
c.3748A>G (p.Arg1250Gly)
c.3679A>G (p.Arg1227Gly)
c.3547A>G (p.Arg1183Gly)
c.3415A>G (p.Arg1139Gly)
20g.32436280A>TCA408563333ASXL1c.3568A>T (p.Arg1190Trp)
c.3385A>T (p.Arg1129Trp)
n.5921A>T
c.1869+1699A>T (n.1869+1699A>T)
c.3553A>T (p.Arg1185Trp)
c.3565A>T (p.Arg1189Trp)
c.3538A>T (p.Arg1180Trp)
c.3484A>T (p.Arg1162Trp)
c.2884A>T (p.Arg962Trp)
c.3832A>T (p.Arg1278Trp)
c.3829A>T (p.Arg1277Trp)
c.3748A>T (p.Arg1250Trp)
c.3679A>T (p.Arg1227Trp)
c.3547A>T (p.Arg1183Trp)
c.3415A>T (p.Arg1139Trp)
20g.32436281G>ACA9808854ASXL1c.3569G>A (p.Arg1190Lys)
c.3386G>A (p.Arg1129Lys)
n.5922G>A
c.1869+1700G>A (n.1869+1700G>A)
c.3554G>A (p.Arg1185Lys)
c.3566G>A (p.Arg1189Lys)
c.3539G>A (p.Arg1180Lys)
c.3485G>A (p.Arg1162Lys)
c.2885G>A (p.Arg962Lys)
c.3833G>A (p.Arg1278Lys)
c.3830G>A (p.Arg1277Lys)
c.3749G>A (p.Arg1250Lys)
c.3680G>A (p.Arg1227Lys)
c.3548G>A (p.Arg1183Lys)
c.3416G>A (p.Arg1139Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436281G>CCA408563334ASXL1c.3569G>C (p.Arg1190Thr)
c.3386G>C (p.Arg1129Thr)
n.5922G>C
c.1869+1700G>C (n.1869+1700G>C)
c.3554G>C (p.Arg1185Thr)
c.3566G>C (p.Arg1189Thr)
c.3539G>C (p.Arg1180Thr)
c.3485G>C (p.Arg1162Thr)
c.2885G>C (p.Arg962Thr)
c.3833G>C (p.Arg1278Thr)
c.3830G>C (p.Arg1277Thr)
c.3749G>C (p.Arg1250Thr)
c.3680G>C (p.Arg1227Thr)
c.3548G>C (p.Arg1183Thr)
c.3416G>C (p.Arg1139Thr)
20g.32436281G=CA2360293624ASXL1c.3569G= (p.Arg1190=)
c.3386G= (p.Arg1129=)
n.5922G=
c.1869+1700G= (n.1869+1700G=)
c.3554G= (p.Arg1185=)
c.3566G= (p.Arg1189=)
c.3539G= (p.Arg1180=)
c.3485G= (p.Arg1162=)
c.2885G= (p.Arg962=)
c.3833G= (p.Arg1278=)
c.3830G= (p.Arg1277=)
c.3749G= (p.Arg1250=)
c.3680G= (p.Arg1227=)
c.3548G= (p.Arg1183=)
c.3416G= (p.Arg1139=)
20g.32436281G>TCA408563335ASXL1c.3569G>T (p.Arg1190Met)
c.3386G>T (p.Arg1129Met)
n.5922G>T
c.1869+1700G>T (n.1869+1700G>T)
c.3554G>T (p.Arg1185Met)
c.3566G>T (p.Arg1189Met)
c.3539G>T (p.Arg1180Met)
c.3485G>T (p.Arg1162Met)
c.2885G>T (p.Arg962Met)
c.3833G>T (p.Arg1278Met)
c.3830G>T (p.Arg1277Met)
c.3749G>T (p.Arg1250Met)
c.3680G>T (p.Arg1227Met)
c.3548G>T (p.Arg1183Met)
c.3416G>T (p.Arg1139Met)
20g.32436281_32436343dupCA635268547ASXL1c.3569_3631dup (p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3386_3448dup (p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
n.5922_5984dup
c.1869+1700_1869+1762dup (n.1869+1700_1869+1762dup)
c.3554_3616dup (p.Phe1205_Asp1206insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3566_3628dup (p.Phe1209_Asp1210insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3539_3601dup (p.Phe1200_Asp1201insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3485_3547dup (p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.2885_2947dup (p.Phe982_Asp983insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3833_3895dup (p.Phe1298_Asp1299insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3830_3892dup (p.Phe1297_Asp1298insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3749_3811dup (p.Phe1270_Asp1271insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3680_3742dup (p.Phe1247_Asp1248insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3548_3610dup (p.Phe1203_Asp1204insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3416_3478dup (p.Phe1159_Asp1160insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
 dbSNP gnomAD v2
20g.32436282G>ACA510467321ASXL1c.3570G>A (p.Arg1190=)
c.3387G>A (p.Arg1129=)
n.5923G>A
c.1869+1701G>A (n.1869+1701G>A)
c.3555G>A (p.Arg1185=)
c.3567G>A (p.Arg1189=)
c.3540G>A (p.Arg1180=)
c.3486G>A (p.Arg1162=)
c.2886G>A (p.Arg962=)
c.3834G>A (p.Arg1278=)
c.3831G>A (p.Arg1277=)
c.3750G>A (p.Arg1250=)
c.3681G>A (p.Arg1227=)
c.3549G>A (p.Arg1183=)
c.3417G>A (p.Arg1139=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436282G>CCA408563336ASXL1c.3570G>C (p.Arg1190Ser)
c.3387G>C (p.Arg1129Ser)
n.5923G>C
c.1869+1701G>C (n.1869+1701G>C)
c.3555G>C (p.Arg1185Ser)
c.3567G>C (p.Arg1189Ser)
c.3540G>C (p.Arg1180Ser)
c.3486G>C (p.Arg1162Ser)
c.2886G>C (p.Arg962Ser)
c.3834G>C (p.Arg1278Ser)
c.3831G>C (p.Arg1277Ser)
c.3750G>C (p.Arg1250Ser)
c.3681G>C (p.Arg1227Ser)
c.3549G>C (p.Arg1183Ser)
c.3417G>C (p.Arg1139Ser)
20g.32436282G=CA2360293625ASXL1c.3570G= (p.Arg1190=)
c.3387G= (p.Arg1129=)
n.5923G=
c.1869+1701G= (n.1869+1701G=)
c.3555G= (p.Arg1185=)
c.3567G= (p.Arg1189=)
c.3540G= (p.Arg1180=)
c.3486G= (p.Arg1162=)
c.2886G= (p.Arg962=)
c.3834G= (p.Arg1278=)
c.3831G= (p.Arg1277=)
c.3750G= (p.Arg1250=)
c.3681G= (p.Arg1227=)
c.3549G= (p.Arg1183=)
c.3417G= (p.Arg1139=)
20g.32436282G>TCA408563337ASXL1c.3570G>T (p.Arg1190Ser)
c.3387G>T (p.Arg1129Ser)
n.5923G>T
c.1869+1701G>T (n.1869+1701G>T)
c.3555G>T (p.Arg1185Ser)
c.3567G>T (p.Arg1189Ser)
c.3540G>T (p.Arg1180Ser)
c.3486G>T (p.Arg1162Ser)
c.2886G>T (p.Arg962Ser)
c.3834G>T (p.Arg1278Ser)
c.3831G>T (p.Arg1277Ser)
c.3750G>T (p.Arg1250Ser)
c.3681G>T (p.Arg1227Ser)
c.3549G>T (p.Arg1183Ser)
c.3417G>T (p.Arg1139Ser)
20g.32436283A=CA2360293626ASXL1c.3571A= (p.Ile1191=)
c.3388A= (p.Ile1130=)
n.5924A=
c.1869+1702A= (n.1869+1702A=)
c.3556A= (p.Ile1186=)
c.3568A= (p.Ile1190=)
c.3541A= (p.Ile1181=)
c.3487A= (p.Ile1163=)
c.2887A= (p.Ile963=)
c.3835A= (p.Ile1279=)
c.3832A= (p.Ile1278=)
c.3751A= (p.Ile1251=)
c.3682A= (p.Ile1228=)
c.3550A= (p.Ile1184=)
c.3418A= (p.Ile1140=)
20g.32436283A>CCA408563338ASXL1c.3571A>C (p.Ile1191Leu)
c.3388A>C (p.Ile1130Leu)
n.5924A>C
c.1869+1702A>C (n.1869+1702A>C)
c.3556A>C (p.Ile1186Leu)
c.3568A>C (p.Ile1190Leu)
c.3541A>C (p.Ile1181Leu)
c.3487A>C (p.Ile1163Leu)
c.2887A>C (p.Ile963Leu)
c.3835A>C (p.Ile1279Leu)
c.3832A>C (p.Ile1278Leu)
c.3751A>C (p.Ile1251Leu)
c.3682A>C (p.Ile1228Leu)
c.3550A>C (p.Ile1184Leu)
c.3418A>C (p.Ile1140Leu)
20g.32436283A>GCA9808855ASXL1c.3571A>G (p.Ile1191Val)
c.3388A>G (p.Ile1130Val)
n.5924A>G
c.1869+1702A>G (n.1869+1702A>G)
c.3556A>G (p.Ile1186Val)
c.3568A>G (p.Ile1190Val)
c.3541A>G (p.Ile1181Val)
c.3487A>G (p.Ile1163Val)
c.2887A>G (p.Ile963Val)
c.3835A>G (p.Ile1279Val)
c.3832A>G (p.Ile1278Val)
c.3751A>G (p.Ile1251Val)
c.3682A>G (p.Ile1228Val)
c.3550A>G (p.Ile1184Val)
c.3418A>G (p.Ile1140Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436283A>TCA9808856ASXL1c.3571A>T (p.Ile1191Phe)
c.3388A>T (p.Ile1130Phe)
n.5924A>T
c.1869+1702A>T (n.1869+1702A>T)
c.3556A>T (p.Ile1186Phe)
c.3568A>T (p.Ile1190Phe)
c.3541A>T (p.Ile1181Phe)
c.3487A>T (p.Ile1163Phe)
c.2887A>T (p.Ile963Phe)
c.3835A>T (p.Ile1279Phe)
c.3832A>T (p.Ile1278Phe)
c.3751A>T (p.Ile1251Phe)
c.3682A>T (p.Ile1228Phe)
c.3550A>T (p.Ile1184Phe)
c.3418A>T (p.Ile1140Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436284T>ACA408563340ASXL1c.3572T>A (p.Ile1191Asn)
c.3389T>A (p.Ile1130Asn)
n.5925T>A
c.1869+1703T>A (n.1869+1703T>A)
c.3557T>A (p.Ile1186Asn)
c.3569T>A (p.Ile1190Asn)
c.3542T>A (p.Ile1181Asn)
c.3488T>A (p.Ile1163Asn)
c.2888T>A (p.Ile963Asn)
c.3836T>A (p.Ile1279Asn)
c.3833T>A (p.Ile1278Asn)
c.3752T>A (p.Ile1251Asn)
c.3683T>A (p.Ile1228Asn)
c.3551T>A (p.Ile1184Asn)
c.3419T>A (p.Ile1140Asn)
20g.32436284T>CCA408563341ASXL1c.3572T>C (p.Ile1191Thr)
c.3389T>C (p.Ile1130Thr)
n.5925T>C
c.1869+1703T>C (n.1869+1703T>C)
c.3557T>C (p.Ile1186Thr)
c.3569T>C (p.Ile1190Thr)
c.3542T>C (p.Ile1181Thr)
c.3488T>C (p.Ile1163Thr)
c.2888T>C (p.Ile963Thr)
c.3836T>C (p.Ile1279Thr)
c.3833T>C (p.Ile1278Thr)
c.3752T>C (p.Ile1251Thr)
c.3683T>C (p.Ile1228Thr)
c.3551T>C (p.Ile1184Thr)
c.3419T>C (p.Ile1140Thr)
 dbSNP gnomAD v4
20g.32436284T>GCA408563339ASXL1c.3572T>G (p.Ile1191Ser)
c.3389T>G (p.Ile1130Ser)
n.5925T>G
c.1869+1703T>G (n.1869+1703T>G)
c.3557T>G (p.Ile1186Ser)
c.3569T>G (p.Ile1190Ser)
c.3542T>G (p.Ile1181Ser)
c.3488T>G (p.Ile1163Ser)
c.2888T>G (p.Ile963Ser)
c.3836T>G (p.Ile1279Ser)
c.3833T>G (p.Ile1278Ser)
c.3752T>G (p.Ile1251Ser)
c.3683T>G (p.Ile1228Ser)
c.3551T>G (p.Ile1184Ser)
c.3419T>G (p.Ile1140Ser)
20g.32436284T=CA2360293627ASXL1c.3572T= (p.Ile1191=)
c.3389T= (p.Ile1130=)
n.5925T=
c.1869+1703T= (n.1869+1703T=)
c.3557T= (p.Ile1186=)
c.3569T= (p.Ile1190=)
c.3542T= (p.Ile1181=)
c.3488T= (p.Ile1163=)
c.2888T= (p.Ile963=)
c.3836T= (p.Ile1279=)
c.3833T= (p.Ile1278=)
c.3752T= (p.Ile1251=)
c.3683T= (p.Ile1228=)
c.3551T= (p.Ile1184=)
c.3419T= (p.Ile1140=)
20g.32436285T>ACA510467325ASXL1c.3573T>A (p.Ile1191=)
c.3390T>A (p.Ile1130=)
n.5926T>A
c.1869+1704T>A (n.1869+1704T>A)
c.3558T>A (p.Ile1186=)
c.3570T>A (p.Ile1190=)
c.3543T>A (p.Ile1181=)
c.3489T>A (p.Ile1163=)
c.2889T>A (p.Ile963=)
c.3837T>A (p.Ile1279=)
c.3834T>A (p.Ile1278=)
c.3753T>A (p.Ile1251=)
c.3684T>A (p.Ile1228=)
c.3552T>A (p.Ile1184=)
c.3420T>A (p.Ile1140=)
20g.32436285T>CCA9808857ASXL1c.3573T>C (p.Ile1191=)
c.3390T>C (p.Ile1130=)
n.5926T>C
c.1869+1704T>C (n.1869+1704T>C)
c.3558T>C (p.Ile1186=)
c.3570T>C (p.Ile1190=)
c.3543T>C (p.Ile1181=)
c.3489T>C (p.Ile1163=)
c.2889T>C (p.Ile963=)
c.3837T>C (p.Ile1279=)
c.3834T>C (p.Ile1278=)
c.3753T>C (p.Ile1251=)
c.3684T>C (p.Ile1228=)
c.3552T>C (p.Ile1184=)
c.3420T>C (p.Ile1140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436285T>GCA408563342ASXL1c.3573T>G (p.Ile1191Met)
c.3390T>G (p.Ile1130Met)
n.5926T>G
c.1869+1704T>G (n.1869+1704T>G)
c.3558T>G (p.Ile1186Met)
c.3570T>G (p.Ile1190Met)
c.3543T>G (p.Ile1181Met)
c.3489T>G (p.Ile1163Met)
c.2889T>G (p.Ile963Met)
c.3837T>G (p.Ile1279Met)
c.3834T>G (p.Ile1278Met)
c.3753T>G (p.Ile1251Met)
c.3684T>G (p.Ile1228Met)
c.3552T>G (p.Ile1184Met)
c.3420T>G (p.Ile1140Met)
20g.32436285T=CA2360293628ASXL1c.3573T= (p.Ile1191=)
c.3390T= (p.Ile1130=)
n.5926T=
c.1869+1704T= (n.1869+1704T=)
c.3558T= (p.Ile1186=)
c.3570T= (p.Ile1190=)
c.3543T= (p.Ile1181=)
c.3489T= (p.Ile1163=)
c.2889T= (p.Ile963=)
c.3837T= (p.Ile1279=)
c.3834T= (p.Ile1278=)
c.3753T= (p.Ile1251=)
c.3684T= (p.Ile1228=)
c.3552T= (p.Ile1184=)
c.3420T= (p.Ile1140=)
20g.32436286G>ACA408563343ASXL1c.3574G>A (p.Glu1192Lys)
c.3391G>A (p.Glu1131Lys)
n.5927G>A
c.1869+1705G>A (n.1869+1705G>A)
c.3559G>A (p.Glu1187Lys)
c.3571G>A (p.Glu1191Lys)
c.3544G>A (p.Glu1182Lys)
c.3490G>A (p.Glu1164Lys)
c.2890G>A (p.Glu964Lys)
c.3838G>A (p.Glu1280Lys)
c.3835G>A (p.Glu1279Lys)
c.3754G>A (p.Glu1252Lys)
c.3685G>A (p.Glu1229Lys)
c.3553G>A (p.Glu1185Lys)
c.3421G>A (p.Glu1141Lys)
20g.32436286G>CCA408563344ASXL1c.3574G>C (p.Glu1192Gln)
c.3391G>C (p.Glu1131Gln)
n.5927G>C
c.1869+1705G>C (n.1869+1705G>C)
c.3559G>C (p.Glu1187Gln)
c.3571G>C (p.Glu1191Gln)
c.3544G>C (p.Glu1182Gln)
c.3490G>C (p.Glu1164Gln)
c.2890G>C (p.Glu964Gln)
c.3838G>C (p.Glu1280Gln)
c.3835G>C (p.Glu1279Gln)
c.3754G>C (p.Glu1252Gln)
c.3685G>C (p.Glu1229Gln)
c.3553G>C (p.Glu1185Gln)
c.3421G>C (p.Glu1141Gln)
 dbSNP
20g.32436286G>TCA408563345ASXL1c.3574G>T (p.Glu1192Ter)
c.3391G>T (p.Glu1131Ter)
n.5927G>T
c.1869+1705G>T (n.1869+1705G>T)
c.3559G>T (p.Glu1187Ter)
c.3571G>T (p.Glu1191Ter)
c.3544G>T (p.Glu1182Ter)
c.3490G>T (p.Glu1164Ter)
c.2890G>T (p.Glu964Ter)
c.3838G>T (p.Glu1280Ter)
c.3835G>T (p.Glu1279Ter)
c.3754G>T (p.Glu1252Ter)
c.3685G>T (p.Glu1229Ter)
c.3553G>T (p.Glu1185Ter)
c.3421G>T (p.Glu1141Ter)
 COSMIC
20g.32436287A=CA2360293629ASXL1c.3575A= (p.Glu1192=)
c.3392A= (p.Glu1131=)
n.5928A=
c.1869+1706A= (n.1869+1706A=)
c.3560A= (p.Glu1187=)
c.3572A= (p.Glu1191=)
c.3545A= (p.Glu1182=)
c.3491A= (p.Glu1164=)
c.2891A= (p.Glu964=)
c.3839A= (p.Glu1280=)
c.3836A= (p.Glu1279=)
c.3755A= (p.Glu1252=)
c.3686A= (p.Glu1229=)
c.3554A= (p.Glu1185=)
c.3422A= (p.Glu1141=)
20g.32436287A>CCA408563346ASXL1c.3575A>C (p.Glu1192Ala)
c.3392A>C (p.Glu1131Ala)
n.5928A>C
c.1869+1706A>C (n.1869+1706A>C)
c.3560A>C (p.Glu1187Ala)
c.3572A>C (p.Glu1191Ala)
c.3545A>C (p.Glu1182Ala)
c.3491A>C (p.Glu1164Ala)
c.2891A>C (p.Glu964Ala)
c.3839A>C (p.Glu1280Ala)
c.3836A>C (p.Glu1279Ala)
c.3755A>C (p.Glu1252Ala)
c.3686A>C (p.Glu1229Ala)
c.3554A>C (p.Glu1185Ala)
c.3422A>C (p.Glu1141Ala)
20g.32436287A>GCA408563347ASXL1c.3575A>G (p.Glu1192Gly)
c.3392A>G (p.Glu1131Gly)
n.5928A>G
c.1869+1706A>G (n.1869+1706A>G)
c.3560A>G (p.Glu1187Gly)
c.3572A>G (p.Glu1191Gly)
c.3545A>G (p.Glu1182Gly)
c.3491A>G (p.Glu1164Gly)
c.2891A>G (p.Glu964Gly)
c.3839A>G (p.Glu1280Gly)
c.3836A>G (p.Glu1279Gly)
c.3755A>G (p.Glu1252Gly)
c.3686A>G (p.Glu1229Gly)
c.3554A>G (p.Glu1185Gly)
c.3422A>G (p.Glu1141Gly)
20g.32436287A>TCA313926352ASXL1c.3575A>T (p.Glu1192Val)
c.3392A>T (p.Glu1131Val)
n.5928A>T
c.1869+1706A>T (n.1869+1706A>T)
c.3560A>T (p.Glu1187Val)
c.3572A>T (p.Glu1191Val)
c.3545A>T (p.Glu1182Val)
c.3491A>T (p.Glu1164Val)
c.2891A>T (p.Glu964Val)
c.3839A>T (p.Glu1280Val)
c.3836A>T (p.Glu1279Val)
c.3755A>T (p.Glu1252Val)
c.3686A>T (p.Glu1229Val)
c.3554A>T (p.Glu1185Val)
c.3422A>T (p.Glu1141Val)
 dbSNP gnomAD v3 gnomAD v4
20g.32436288G>ACA313926353ASXL1c.3576G>A (p.Glu1192=)
c.3393G>A (p.Glu1131=)
n.5929G>A
c.1869+1707G>A (n.1869+1707G>A)
c.3561G>A (p.Glu1187=)
c.3573G>A (p.Glu1191=)
c.3546G>A (p.Glu1182=)
c.3492G>A (p.Glu1164=)
c.2892G>A (p.Glu964=)
c.3840G>A (p.Glu1280=)
c.3837G>A (p.Glu1279=)
c.3756G>A (p.Glu1252=)
c.3687G>A (p.Glu1229=)
c.3555G>A (p.Glu1185=)
c.3423G>A (p.Glu1141=)
 dbSNP
20g.32436288G>CCA408563348ASXL1c.3576G>C (p.Glu1192Asp)
c.3393G>C (p.Glu1131Asp)
n.5929G>C
c.1869+1707G>C (n.1869+1707G>C)
c.3561G>C (p.Glu1187Asp)
c.3573G>C (p.Glu1191Asp)
c.3546G>C (p.Glu1182Asp)
c.3492G>C (p.Glu1164Asp)
c.2892G>C (p.Glu964Asp)
c.3840G>C (p.Glu1280Asp)
c.3837G>C (p.Glu1279Asp)
c.3756G>C (p.Glu1252Asp)
c.3687G>C (p.Glu1229Asp)
c.3555G>C (p.Glu1185Asp)
c.3423G>C (p.Glu1141Asp)
20g.32436288G=CA2360293630ASXL1c.3576G= (p.Glu1192=)
c.3393G= (p.Glu1131=)
n.5929G=
c.1869+1707G= (n.1869+1707G=)
c.3561G= (p.Glu1187=)
c.3573G= (p.Glu1191=)
c.3546G= (p.Glu1182=)
c.3492G= (p.Glu1164=)
c.2892G= (p.Glu964=)
c.3840G= (p.Glu1280=)
c.3837G= (p.Glu1279=)
c.3756G= (p.Glu1252=)
c.3687G= (p.Glu1229=)
c.3555G= (p.Glu1185=)
c.3423G= (p.Glu1141=)
20g.32436288G>TCA408563349ASXL1c.3576G>T (p.Glu1192Asp)
c.3393G>T (p.Glu1131Asp)
n.5929G>T
c.1869+1707G>T (n.1869+1707G>T)
c.3561G>T (p.Glu1187Asp)
c.3573G>T (p.Glu1191Asp)
c.3546G>T (p.Glu1182Asp)
c.3492G>T (p.Glu1164Asp)
c.2892G>T (p.Glu964Asp)
c.3840G>T (p.Glu1280Asp)
c.3837G>T (p.Glu1279Asp)
c.3756G>T (p.Glu1252Asp)
c.3687G>T (p.Glu1229Asp)
c.3555G>T (p.Glu1185Asp)
c.3423G>T (p.Glu1141Asp)
20g.32436289G>ACA408563350ASXL1c.3577G>A (p.Ala1193Thr)
c.3394G>A (p.Ala1132Thr)
n.5930G>A
c.1869+1708G>A (n.1869+1708G>A)
c.3562G>A (p.Ala1188Thr)
c.3574G>A (p.Ala1192Thr)
c.3547G>A (p.Ala1183Thr)
c.3493G>A (p.Ala1165Thr)
c.2893G>A (p.Ala965Thr)
c.3841G>A (p.Ala1281Thr)
c.3838G>A (p.Ala1280Thr)
c.3757G>A (p.Ala1253Thr)
c.3688G>A (p.Ala1230Thr)
c.3556G>A (p.Ala1186Thr)
c.3424G>A (p.Ala1142Thr)
 dbSNP
20g.32436289G>CCA408563351ASXL1c.3577G>C (p.Ala1193Pro)
c.3394G>C (p.Ala1132Pro)
n.5930G>C
c.1869+1708G>C (n.1869+1708G>C)
c.3562G>C (p.Ala1188Pro)
c.3574G>C (p.Ala1192Pro)
c.3547G>C (p.Ala1183Pro)
c.3493G>C (p.Ala1165Pro)
c.2893G>C (p.Ala965Pro)
c.3841G>C (p.Ala1281Pro)
c.3838G>C (p.Ala1280Pro)
c.3757G>C (p.Ala1253Pro)
c.3688G>C (p.Ala1230Pro)
c.3556G>C (p.Ala1186Pro)
c.3424G>C (p.Ala1142Pro)
20g.32436289G>TCA408563352ASXL1c.3577G>T (p.Ala1193Ser)
c.3394G>T (p.Ala1132Ser)
n.5930G>T
c.1869+1708G>T (n.1869+1708G>T)
c.3562G>T (p.Ala1188Ser)
c.3574G>T (p.Ala1192Ser)
c.3547G>T (p.Ala1183Ser)
c.3493G>T (p.Ala1165Ser)
c.2893G>T (p.Ala965Ser)
c.3841G>T (p.Ala1281Ser)
c.3838G>T (p.Ala1280Ser)
c.3757G>T (p.Ala1253Ser)
c.3688G>T (p.Ala1230Ser)
c.3556G>T (p.Ala1186Ser)
c.3424G>T (p.Ala1142Ser)
20g.32436290C>ACA408563355ASXL1c.3578C>A (p.Ala1193Asp)
c.3395C>A (p.Ala1132Asp)
n.5931C>A
c.1869+1709C>A (n.1869+1709C>A)
c.3563C>A (p.Ala1188Asp)
c.3575C>A (p.Ala1192Asp)
c.3548C>A (p.Ala1183Asp)
c.3494C>A (p.Ala1165Asp)
c.2894C>A (p.Ala965Asp)
c.3842C>A (p.Ala1281Asp)
c.3839C>A (p.Ala1280Asp)
c.3758C>A (p.Ala1253Asp)
c.3689C>A (p.Ala1230Asp)
c.3557C>A (p.Ala1186Asp)
c.3425C>A (p.Ala1142Asp)
 dbSNP
20g.32436290C>GCA408563353ASXL1c.3578C>G (p.Ala1193Gly)
c.3395C>G (p.Ala1132Gly)
n.5931C>G
c.1869+1709C>G (n.1869+1709C>G)
c.3563C>G (p.Ala1188Gly)
c.3575C>G (p.Ala1192Gly)
c.3548C>G (p.Ala1183Gly)
c.3494C>G (p.Ala1165Gly)
c.2894C>G (p.Ala965Gly)
c.3842C>G (p.Ala1281Gly)
c.3839C>G (p.Ala1280Gly)
c.3758C>G (p.Ala1253Gly)
c.3689C>G (p.Ala1230Gly)
c.3557C>G (p.Ala1186Gly)
c.3425C>G (p.Ala1142Gly)
20g.32436290C>TCA408563354ASXL1c.3578C>T (p.Ala1193Val)
c.3395C>T (p.Ala1132Val)
n.5931C>T
c.1869+1709C>T (n.1869+1709C>T)
c.3563C>T (p.Ala1188Val)
c.3575C>T (p.Ala1192Val)
c.3548C>T (p.Ala1183Val)
c.3494C>T (p.Ala1165Val)
c.2894C>T (p.Ala965Val)
c.3842C>T (p.Ala1281Val)
c.3839C>T (p.Ala1280Val)
c.3758C>T (p.Ala1253Val)
c.3689C>T (p.Ala1230Val)
c.3557C>T (p.Ala1186Val)
c.3425C>T (p.Ala1142Val)
20g.32436291C>ACA510467332ASXL1c.3579C>A (p.Ala1193=)
c.3396C>A (p.Ala1132=)
n.5932C>A
c.1869+1710C>A (n.1869+1710C>A)
c.3564C>A (p.Ala1188=)
c.3576C>A (p.Ala1192=)
c.3549C>A (p.Ala1183=)
c.3495C>A (p.Ala1165=)
c.2895C>A (p.Ala965=)
c.3843C>A (p.Ala1281=)
c.3840C>A (p.Ala1280=)
c.3759C>A (p.Ala1253=)
c.3690C>A (p.Ala1230=)
c.3558C>A (p.Ala1186=)
c.3426C>A (p.Ala1142=)
20g.32436291C>GCA510467333ASXL1c.3579C>G (p.Ala1193=)
c.3396C>G (p.Ala1132=)
n.5932C>G
c.1869+1710C>G (n.1869+1710C>G)
c.3564C>G (p.Ala1188=)
c.3576C>G (p.Ala1192=)
c.3549C>G (p.Ala1183=)
c.3495C>G (p.Ala1165=)
c.2895C>G (p.Ala965=)
c.3843C>G (p.Ala1281=)
c.3840C>G (p.Ala1280=)
c.3759C>G (p.Ala1253=)
c.3690C>G (p.Ala1230=)
c.3558C>G (p.Ala1186=)
c.3426C>G (p.Ala1142=)
20g.32436291C>TCA510467335ASXL1c.3579C>T (p.Ala1193=)
c.3396C>T (p.Ala1132=)
n.5932C>T
c.1869+1710C>T (n.1869+1710C>T)
c.3564C>T (p.Ala1188=)
c.3576C>T (p.Ala1192=)
c.3549C>T (p.Ala1183=)
c.3495C>T (p.Ala1165=)
c.2895C>T (p.Ala965=)
c.3843C>T (p.Ala1281=)
c.3840C>T (p.Ala1280=)
c.3759C>T (p.Ala1253=)
c.3690C>T (p.Ala1230=)
c.3558C>T (p.Ala1186=)
c.3426C>T (p.Ala1142=)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched