Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436113dup | CA313926344 | ASXL1 | c.3401dup (p.Gln1135ThrfsTer29) c.3218dup (p.Gln1074ThrfsTer29) n.5754dup c.1869+1532dup (n.1869+1532dup) c.3386dup (p.Gln1130ThrfsTer29) c.3398dup (p.Gln1134ThrfsTer29) c.3371dup (p.Gln1125ThrfsTer29) c.3317dup (p.Gln1107ThrfsTer29) c.2717dup (p.Gln907ThrfsTer29) c.3665dup (p.Gln1223ThrfsTer29) c.3662dup (p.Gln1222ThrfsTer29) c.3581dup (p.Gln1195ThrfsTer29) c.3512dup (p.Gln1172ThrfsTer29) c.3380dup (p.Gln1128ThrfsTer29) c.3248dup (p.Gln1084ThrfsTer29) | dbSNP |
20 | g.32436111C>A | CA510467224 | ASXL1 | c.3399C>A (p.Ser1133=) c.3216C>A (p.Ser1072=) n.5752C>A c.1869+1530C>A (n.1869+1530C>A) c.3384C>A (p.Ser1128=) c.3396C>A (p.Ser1132=) c.3369C>A (p.Ser1123=) c.3315C>A (p.Ser1105=) c.2715C>A (p.Ser905=) c.3663C>A (p.Ser1221=) c.3660C>A (p.Ser1220=) c.3579C>A (p.Ser1193=) c.3510C>A (p.Ser1170=) c.3378C>A (p.Ser1126=) c.3246C>A (p.Ser1082=) | |
20 | g.32436111C= | CA2360293536 | ASXL1 | c.3399C= (p.Ser1133=) c.3216C= (p.Ser1072=) n.5752C= c.1869+1530C= (n.1869+1530C=) c.3384C= (p.Ser1128=) c.3396C= (p.Ser1132=) c.3369C= (p.Ser1123=) c.3315C= (p.Ser1105=) c.2715C= (p.Ser905=) c.3663C= (p.Ser1221=) c.3660C= (p.Ser1220=) c.3579C= (p.Ser1193=) c.3510C= (p.Ser1170=) c.3378C= (p.Ser1126=) c.3246C= (p.Ser1082=) | |
20 | g.32436111C>G | CA9808810 | ASXL1 | c.3399C>G (p.Ser1133=) c.3216C>G (p.Ser1072=) n.5752C>G c.1869+1530C>G (n.1869+1530C>G) c.3384C>G (p.Ser1128=) c.3396C>G (p.Ser1132=) c.3369C>G (p.Ser1123=) c.3315C>G (p.Ser1105=) c.2715C>G (p.Ser905=) c.3663C>G (p.Ser1221=) c.3660C>G (p.Ser1220=) c.3579C>G (p.Ser1193=) c.3510C>G (p.Ser1170=) c.3378C>G (p.Ser1126=) c.3246C>G (p.Ser1082=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436111C>T | CA510467223 | ASXL1 | c.3399C>T (p.Ser1133=) c.3216C>T (p.Ser1072=) n.5752C>T c.1869+1530C>T (n.1869+1530C>T) c.3384C>T (p.Ser1128=) c.3396C>T (p.Ser1132=) c.3369C>T (p.Ser1123=) c.3315C>T (p.Ser1105=) c.2715C>T (p.Ser905=) c.3663C>T (p.Ser1221=) c.3660C>T (p.Ser1220=) c.3579C>T (p.Ser1193=) c.3510C>T (p.Ser1170=) c.3378C>T (p.Ser1126=) c.3246C>T (p.Ser1082=) | gnomAD v4 COSMIC COSMIC |
20 | g.32436112C>A | CA408562983 | ASXL1 | c.3400C>A (p.Pro1134Thr) c.3217C>A (p.Pro1073Thr) n.5753C>A c.1869+1531C>A (n.1869+1531C>A) c.3385C>A (p.Pro1129Thr) c.3397C>A (p.Pro1133Thr) c.3370C>A (p.Pro1124Thr) c.3316C>A (p.Pro1106Thr) c.2716C>A (p.Pro906Thr) c.3664C>A (p.Pro1222Thr) c.3661C>A (p.Pro1221Thr) c.3580C>A (p.Pro1194Thr) c.3511C>A (p.Pro1171Thr) c.3379C>A (p.Pro1127Thr) c.3247C>A (p.Pro1083Thr) | |
20 | g.32436112C= | CA2360293537 | ASXL1 | c.3400C= (p.Pro1134=) c.3217C= (p.Pro1073=) n.5753C= c.1869+1531C= (n.1869+1531C=) c.3385C= (p.Pro1129=) c.3397C= (p.Pro1133=) c.3370C= (p.Pro1124=) c.3316C= (p.Pro1106=) c.2716C= (p.Pro906=) c.3664C= (p.Pro1222=) c.3661C= (p.Pro1221=) c.3580C= (p.Pro1194=) c.3511C= (p.Pro1171=) c.3379C= (p.Pro1127=) c.3247C= (p.Pro1083=) | |
20 | g.32436112C>G | CA408562984 | ASXL1 | c.3400C>G (p.Pro1134Ala) c.3217C>G (p.Pro1073Ala) n.5753C>G c.1869+1531C>G (n.1869+1531C>G) c.3385C>G (p.Pro1129Ala) c.3397C>G (p.Pro1133Ala) c.3370C>G (p.Pro1124Ala) c.3316C>G (p.Pro1106Ala) c.2716C>G (p.Pro906Ala) c.3664C>G (p.Pro1222Ala) c.3661C>G (p.Pro1221Ala) c.3580C>G (p.Pro1194Ala) c.3511C>G (p.Pro1171Ala) c.3379C>G (p.Pro1127Ala) c.3247C>G (p.Pro1083Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436112C>T | CA408562985 | ASXL1 | c.3400C>T (p.Pro1134Ser) c.3217C>T (p.Pro1073Ser) n.5753C>T c.1869+1531C>T (n.1869+1531C>T) c.3385C>T (p.Pro1129Ser) c.3397C>T (p.Pro1133Ser) c.3370C>T (p.Pro1124Ser) c.3316C>T (p.Pro1106Ser) c.2716C>T (p.Pro906Ser) c.3664C>T (p.Pro1222Ser) c.3661C>T (p.Pro1221Ser) c.3580C>T (p.Pro1194Ser) c.3511C>T (p.Pro1171Ser) c.3379C>T (p.Pro1127Ser) c.3247C>T (p.Pro1083Ser) | |
20 | g.32436113_32436115del | CA2652401199 | ASXL1 | c.3401_3403del (p.Pro1134del) c.3218_3220del (p.Pro1073del) n.5754_5756del c.1869+1532_1869+1534del (n.1869+1532_1869+1534del) c.3386_3388del (p.Pro1129del) c.3398_3400del (p.Pro1133del) c.3371_3373del (p.Pro1124del) c.3317_3319del (p.Pro1106del) c.2717_2719del (p.Pro906del) c.3665_3667del (p.Pro1222del) c.3662_3664del (p.Pro1221del) c.3581_3583del (p.Pro1194del) c.3512_3514del (p.Pro1171del) c.3380_3382del (p.Pro1127del) c.3248_3250del (p.Pro1083del) | gnomAD v4 |
20 | g.32436113C>A | CA408562986 | ASXL1 | c.3401C>A (p.Pro1134Gln) c.3218C>A (p.Pro1073Gln) n.5754C>A c.1869+1532C>A (n.1869+1532C>A) c.3386C>A (p.Pro1129Gln) c.3398C>A (p.Pro1133Gln) c.3371C>A (p.Pro1124Gln) c.3317C>A (p.Pro1106Gln) c.2717C>A (p.Pro906Gln) c.3665C>A (p.Pro1222Gln) c.3662C>A (p.Pro1221Gln) c.3581C>A (p.Pro1194Gln) c.3512C>A (p.Pro1171Gln) c.3380C>A (p.Pro1127Gln) c.3248C>A (p.Pro1083Gln) | |
20 | g.32436113C= | CA2360293538 | ASXL1 | c.3401C= (p.Pro1134=) c.3218C= (p.Pro1073=) n.5754C= c.1869+1532C= (n.1869+1532C=) c.3386C= (p.Pro1129=) c.3398C= (p.Pro1133=) c.3371C= (p.Pro1124=) c.3317C= (p.Pro1106=) c.2717C= (p.Pro906=) c.3665C= (p.Pro1222=) c.3662C= (p.Pro1221=) c.3581C= (p.Pro1194=) c.3512C= (p.Pro1171=) c.3380C= (p.Pro1127=) c.3248C= (p.Pro1083=) | |
20 | g.32436113C>G | CA408562987 | ASXL1 | c.3401C>G (p.Pro1134Arg) c.3218C>G (p.Pro1073Arg) n.5754C>G c.1869+1532C>G (n.1869+1532C>G) c.3386C>G (p.Pro1129Arg) c.3398C>G (p.Pro1133Arg) c.3371C>G (p.Pro1124Arg) c.3317C>G (p.Pro1106Arg) c.2717C>G (p.Pro906Arg) c.3665C>G (p.Pro1222Arg) c.3662C>G (p.Pro1221Arg) c.3581C>G (p.Pro1194Arg) c.3512C>G (p.Pro1171Arg) c.3380C>G (p.Pro1127Arg) c.3248C>G (p.Pro1083Arg) | |
20 | g.32436113C>T | CA9808811 | ASXL1 | c.3401C>T (p.Pro1134Leu) c.3218C>T (p.Pro1073Leu) n.5754C>T c.1869+1532C>T (n.1869+1532C>T) c.3386C>T (p.Pro1129Leu) c.3398C>T (p.Pro1133Leu) c.3371C>T (p.Pro1124Leu) c.3317C>T (p.Pro1106Leu) c.2717C>T (p.Pro906Leu) c.3665C>T (p.Pro1222Leu) c.3662C>T (p.Pro1221Leu) c.3581C>T (p.Pro1194Leu) c.3512C>T (p.Pro1171Leu) c.3380C>T (p.Pro1127Leu) c.3248C>T (p.Pro1083Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436114A>C | CA510467225 | ASXL1 | c.3402A>C (p.Pro1134=) c.3219A>C (p.Pro1073=) n.5755A>C c.1869+1533A>C (n.1869+1533A>C) c.3387A>C (p.Pro1129=) c.3399A>C (p.Pro1133=) c.3372A>C (p.Pro1124=) c.3318A>C (p.Pro1106=) c.2718A>C (p.Pro906=) c.3666A>C (p.Pro1222=) c.3663A>C (p.Pro1221=) c.3582A>C (p.Pro1194=) c.3513A>C (p.Pro1171=) c.3381A>C (p.Pro1127=) c.3249A>C (p.Pro1083=) | |
20 | g.32436114A>G | CA510467226 | ASXL1 | c.3402A>G (p.Pro1134=) c.3219A>G (p.Pro1073=) n.5755A>G c.1869+1533A>G (n.1869+1533A>G) c.3387A>G (p.Pro1129=) c.3399A>G (p.Pro1133=) c.3372A>G (p.Pro1124=) c.3318A>G (p.Pro1106=) c.2718A>G (p.Pro906=) c.3666A>G (p.Pro1222=) c.3663A>G (p.Pro1221=) c.3582A>G (p.Pro1194=) c.3513A>G (p.Pro1171=) c.3381A>G (p.Pro1127=) c.3249A>G (p.Pro1083=) | |
20 | g.32436114A>T | CA510467227 | ASXL1 | c.3402A>T (p.Pro1134=) c.3219A>T (p.Pro1073=) n.5755A>T c.1869+1533A>T (n.1869+1533A>T) c.3387A>T (p.Pro1129=) c.3399A>T (p.Pro1133=) c.3372A>T (p.Pro1124=) c.3318A>T (p.Pro1106=) c.2718A>T (p.Pro906=) c.3666A>T (p.Pro1222=) c.3663A>T (p.Pro1221=) c.3582A>T (p.Pro1194=) c.3513A>T (p.Pro1171=) c.3381A>T (p.Pro1127=) c.3249A>T (p.Pro1083=) | gnomAD v4 |
20 | g.32436115del | CA2577366299 | ASXL1 | c.3403del (p.Gln1135LysfsTer?) c.3220del (p.Gln1074LysfsTer?) n.5756del c.1869+1534del (n.1869+1534del) c.3388del (p.Gln1130LysfsTer?) c.3400del (p.Gln1134LysfsTer?) c.3373del (p.Gln1125LysfsTer?) c.3319del (p.Gln1107LysfsTer?) c.2719del (p.Gln907LysfsTer?) c.3667del (p.Gln1223LysfsTer?) c.3664del (p.Gln1222LysfsTer?) c.3583del (p.Gln1195LysfsTer?) c.3514del (p.Gln1172LysfsTer?) c.3382del (p.Gln1128LysfsTer?) c.3250del (p.Gln1084LysfsTer?) | |
20 | g.32436115C>A | CA408562988 | ASXL1 | c.3403C>A (p.Gln1135Lys) c.3220C>A (p.Gln1074Lys) n.5756C>A c.1869+1534C>A (n.1869+1534C>A) c.3388C>A (p.Gln1130Lys) c.3400C>A (p.Gln1134Lys) c.3373C>A (p.Gln1125Lys) c.3319C>A (p.Gln1107Lys) c.2719C>A (p.Gln907Lys) c.3667C>A (p.Gln1223Lys) c.3664C>A (p.Gln1222Lys) c.3583C>A (p.Gln1195Lys) c.3514C>A (p.Gln1172Lys) c.3382C>A (p.Gln1128Lys) c.3250C>A (p.Gln1084Lys) | |
20 | g.32436115C= | CA2360293539 | ASXL1 | c.3403C= (p.Gln1135=) c.3220C= (p.Gln1074=) n.5756C= c.1869+1534C= (n.1869+1534C=) c.3388C= (p.Gln1130=) c.3400C= (p.Gln1134=) c.3373C= (p.Gln1125=) c.3319C= (p.Gln1107=) c.2719C= (p.Gln907=) c.3667C= (p.Gln1223=) c.3664C= (p.Gln1222=) c.3583C= (p.Gln1195=) c.3514C= (p.Gln1172=) c.3382C= (p.Gln1128=) c.3250C= (p.Gln1084=) | |
20 | g.32436115C>G | CA408562989 | ASXL1 | c.3403C>G (p.Gln1135Glu) c.3220C>G (p.Gln1074Glu) n.5756C>G c.1869+1534C>G (n.1869+1534C>G) c.3388C>G (p.Gln1130Glu) c.3400C>G (p.Gln1134Glu) c.3373C>G (p.Gln1125Glu) c.3319C>G (p.Gln1107Glu) c.2719C>G (p.Gln907Glu) c.3667C>G (p.Gln1223Glu) c.3664C>G (p.Gln1222Glu) c.3583C>G (p.Gln1195Glu) c.3514C>G (p.Gln1172Glu) c.3382C>G (p.Gln1128Glu) c.3250C>G (p.Gln1084Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436115C>T | CA408562990 | ASXL1 | c.3403C>T (p.Gln1135Ter) c.3220C>T (p.Gln1074Ter) n.5756C>T c.1869+1534C>T (n.1869+1534C>T) c.3388C>T (p.Gln1130Ter) c.3400C>T (p.Gln1134Ter) c.3373C>T (p.Gln1125Ter) c.3319C>T (p.Gln1107Ter) c.2719C>T (p.Gln907Ter) c.3667C>T (p.Gln1223Ter) c.3664C>T (p.Gln1222Ter) c.3583C>T (p.Gln1195Ter) c.3514C>T (p.Gln1172Ter) c.3382C>T (p.Gln1128Ter) c.3250C>T (p.Gln1084Ter) | |
20 | g.32436116A= | CA2360293540 | ASXL1 | c.3404A= (p.Gln1135=) c.3221A= (p.Gln1074=) n.5757A= c.1869+1535A= (n.1869+1535A=) c.3389A= (p.Gln1130=) c.3401A= (p.Gln1134=) c.3374A= (p.Gln1125=) c.3320A= (p.Gln1107=) c.2720A= (p.Gln907=) c.3668A= (p.Gln1223=) c.3665A= (p.Gln1222=) c.3584A= (p.Gln1195=) c.3515A= (p.Gln1172=) c.3383A= (p.Gln1128=) c.3251A= (p.Gln1084=) | |
20 | g.32436116A>C | CA408562991 | ASXL1 | c.3404A>C (p.Gln1135Pro) c.3221A>C (p.Gln1074Pro) n.5757A>C c.1869+1535A>C (n.1869+1535A>C) c.3389A>C (p.Gln1130Pro) c.3401A>C (p.Gln1134Pro) c.3374A>C (p.Gln1125Pro) c.3320A>C (p.Gln1107Pro) c.2720A>C (p.Gln907Pro) c.3668A>C (p.Gln1223Pro) c.3665A>C (p.Gln1222Pro) c.3584A>C (p.Gln1195Pro) c.3515A>C (p.Gln1172Pro) c.3383A>C (p.Gln1128Pro) c.3251A>C (p.Gln1084Pro) | |
20 | g.32436116A>G | CA9808812 | ASXL1 | c.3404A>G (p.Gln1135Arg) c.3221A>G (p.Gln1074Arg) n.5757A>G c.1869+1535A>G (n.1869+1535A>G) c.3389A>G (p.Gln1130Arg) c.3401A>G (p.Gln1134Arg) c.3374A>G (p.Gln1125Arg) c.3320A>G (p.Gln1107Arg) c.2720A>G (p.Gln907Arg) c.3668A>G (p.Gln1223Arg) c.3665A>G (p.Gln1222Arg) c.3584A>G (p.Gln1195Arg) c.3515A>G (p.Gln1172Arg) c.3383A>G (p.Gln1128Arg) c.3251A>G (p.Gln1084Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436116A>T | CA408562992 | ASXL1 | c.3404A>T (p.Gln1135Leu) c.3221A>T (p.Gln1074Leu) n.5757A>T c.1869+1535A>T (n.1869+1535A>T) c.3389A>T (p.Gln1130Leu) c.3401A>T (p.Gln1134Leu) c.3374A>T (p.Gln1125Leu) c.3320A>T (p.Gln1107Leu) c.2720A>T (p.Gln907Leu) c.3668A>T (p.Gln1223Leu) c.3665A>T (p.Gln1222Leu) c.3584A>T (p.Gln1195Leu) c.3515A>T (p.Gln1172Leu) c.3383A>T (p.Gln1128Leu) c.3251A>T (p.Gln1084Leu) | |
20 | g.32436117A= | CA2360293541 | ASXL1 | c.3405A= (p.Gln1135=) c.3222A= (p.Gln1074=) n.5758A= c.1869+1536A= (n.1869+1536A=) c.3390A= (p.Gln1130=) c.3402A= (p.Gln1134=) c.3375A= (p.Gln1125=) c.3321A= (p.Gln1107=) c.2721A= (p.Gln907=) c.3669A= (p.Gln1223=) c.3666A= (p.Gln1222=) c.3585A= (p.Gln1195=) c.3516A= (p.Gln1172=) c.3384A= (p.Gln1128=) c.3252A= (p.Gln1084=) | |
20 | g.32436117A>C | CA408562994 | ASXL1 | c.3405A>C (p.Gln1135His) c.3222A>C (p.Gln1074His) n.5758A>C c.1869+1536A>C (n.1869+1536A>C) c.3390A>C (p.Gln1130His) c.3402A>C (p.Gln1134His) c.3375A>C (p.Gln1125His) c.3321A>C (p.Gln1107His) c.2721A>C (p.Gln907His) c.3669A>C (p.Gln1223His) c.3666A>C (p.Gln1222His) c.3585A>C (p.Gln1195His) c.3516A>C (p.Gln1172His) c.3384A>C (p.Gln1128His) c.3252A>C (p.Gln1084His) | |
20 | g.32436117A>G | CA9808813 | ASXL1 | c.3405A>G (p.Gln1135=) c.3222A>G (p.Gln1074=) n.5758A>G c.1869+1536A>G (n.1869+1536A>G) c.3390A>G (p.Gln1130=) c.3402A>G (p.Gln1134=) c.3375A>G (p.Gln1125=) c.3321A>G (p.Gln1107=) c.2721A>G (p.Gln907=) c.3669A>G (p.Gln1223=) c.3666A>G (p.Gln1222=) c.3585A>G (p.Gln1195=) c.3516A>G (p.Gln1172=) c.3384A>G (p.Gln1128=) c.3252A>G (p.Gln1084=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436117A>T | CA408562993 | ASXL1 | c.3405A>T (p.Gln1135His) c.3222A>T (p.Gln1074His) n.5758A>T c.1869+1536A>T (n.1869+1536A>T) c.3390A>T (p.Gln1130His) c.3402A>T (p.Gln1134His) c.3375A>T (p.Gln1125His) c.3321A>T (p.Gln1107His) c.2721A>T (p.Gln907His) c.3669A>T (p.Gln1223His) c.3666A>T (p.Gln1222His) c.3585A>T (p.Gln1195His) c.3516A>T (p.Gln1172His) c.3384A>T (p.Gln1128His) c.3252A>T (p.Gln1084His) | |
20 | g.32436118G>A | CA408562995 | ASXL1 | c.3406G>A (p.Val1136Ile) c.3223G>A (p.Val1075Ile) n.5759G>A c.1869+1537G>A (n.1869+1537G>A) c.3391G>A (p.Val1131Ile) c.3403G>A (p.Val1135Ile) c.3376G>A (p.Val1126Ile) c.3322G>A (p.Val1108Ile) c.2722G>A (p.Val908Ile) c.3670G>A (p.Val1224Ile) c.3667G>A (p.Val1223Ile) c.3586G>A (p.Val1196Ile) c.3517G>A (p.Val1173Ile) c.3385G>A (p.Val1129Ile) c.3253G>A (p.Val1085Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436118G>C | CA9808814 | ASXL1 | c.3406G>C (p.Val1136Leu) c.3223G>C (p.Val1075Leu) n.5759G>C c.1869+1537G>C (n.1869+1537G>C) c.3391G>C (p.Val1131Leu) c.3403G>C (p.Val1135Leu) c.3376G>C (p.Val1126Leu) c.3322G>C (p.Val1108Leu) c.2722G>C (p.Val908Leu) c.3670G>C (p.Val1224Leu) c.3667G>C (p.Val1223Leu) c.3586G>C (p.Val1196Leu) c.3517G>C (p.Val1173Leu) c.3385G>C (p.Val1129Leu) c.3253G>C (p.Val1085Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436118G= | CA2360293542 | ASXL1 | c.3406G= (p.Val1136=) c.3223G= (p.Val1075=) n.5759G= c.1869+1537G= (n.1869+1537G=) c.3391G= (p.Val1131=) c.3403G= (p.Val1135=) c.3376G= (p.Val1126=) c.3322G= (p.Val1108=) c.2722G= (p.Val908=) c.3670G= (p.Val1224=) c.3667G= (p.Val1223=) c.3586G= (p.Val1196=) c.3517G= (p.Val1173=) c.3385G= (p.Val1129=) c.3253G= (p.Val1085=) | |
20 | g.32436118G>T | CA408562996 | ASXL1 | c.3406G>T (p.Val1136Leu) c.3223G>T (p.Val1075Leu) n.5759G>T c.1869+1537G>T (n.1869+1537G>T) c.3391G>T (p.Val1131Leu) c.3403G>T (p.Val1135Leu) c.3376G>T (p.Val1126Leu) c.3322G>T (p.Val1108Leu) c.2722G>T (p.Val908Leu) c.3670G>T (p.Val1224Leu) c.3667G>T (p.Val1223Leu) c.3586G>T (p.Val1196Leu) c.3517G>T (p.Val1173Leu) c.3385G>T (p.Val1129Leu) c.3253G>T (p.Val1085Leu) | |
20 | g.32436119T>A | CA408562997 | ASXL1 | c.3407T>A (p.Val1136Glu) c.3224T>A (p.Val1075Glu) n.5760T>A c.1869+1538T>A (n.1869+1538T>A) c.3392T>A (p.Val1131Glu) c.3404T>A (p.Val1135Glu) c.3377T>A (p.Val1126Glu) c.3323T>A (p.Val1108Glu) c.2723T>A (p.Val908Glu) c.3671T>A (p.Val1224Glu) c.3668T>A (p.Val1223Glu) c.3587T>A (p.Val1196Glu) c.3518T>A (p.Val1173Glu) c.3386T>A (p.Val1129Glu) c.3254T>A (p.Val1085Glu) | dbSNP |
20 | g.32436119T>C | CA408562998 | ASXL1 | c.3407T>C (p.Val1136Ala) c.3224T>C (p.Val1075Ala) n.5760T>C c.1869+1538T>C (n.1869+1538T>C) c.3392T>C (p.Val1131Ala) c.3404T>C (p.Val1135Ala) c.3377T>C (p.Val1126Ala) c.3323T>C (p.Val1108Ala) c.2723T>C (p.Val908Ala) c.3671T>C (p.Val1224Ala) c.3668T>C (p.Val1223Ala) c.3587T>C (p.Val1196Ala) c.3518T>C (p.Val1173Ala) c.3386T>C (p.Val1129Ala) c.3254T>C (p.Val1085Ala) | |
20 | g.32436119T>G | CA408562999 | ASXL1 | c.3407T>G (p.Val1136Gly) c.3224T>G (p.Val1075Gly) n.5760T>G c.1869+1538T>G (n.1869+1538T>G) c.3392T>G (p.Val1131Gly) c.3404T>G (p.Val1135Gly) c.3377T>G (p.Val1126Gly) c.3323T>G (p.Val1108Gly) c.2723T>G (p.Val908Gly) c.3671T>G (p.Val1224Gly) c.3668T>G (p.Val1223Gly) c.3587T>G (p.Val1196Gly) c.3518T>G (p.Val1173Gly) c.3386T>G (p.Val1129Gly) c.3254T>G (p.Val1085Gly) | |
20 | g.32436120A>C | CA510467228 | ASXL1 | c.3408A>C (p.Val1136=) c.3225A>C (p.Val1075=) n.5761A>C c.1869+1539A>C (n.1869+1539A>C) c.3393A>C (p.Val1131=) c.3405A>C (p.Val1135=) c.3378A>C (p.Val1126=) c.3324A>C (p.Val1108=) c.2724A>C (p.Val908=) c.3672A>C (p.Val1224=) c.3669A>C (p.Val1223=) c.3588A>C (p.Val1196=) c.3519A>C (p.Val1173=) c.3387A>C (p.Val1129=) c.3255A>C (p.Val1085=) | |
20 | g.32436120A>G | CA510467229 | ASXL1 | c.3408A>G (p.Val1136=) c.3225A>G (p.Val1075=) n.5761A>G c.1869+1539A>G (n.1869+1539A>G) c.3393A>G (p.Val1131=) c.3405A>G (p.Val1135=) c.3378A>G (p.Val1126=) c.3324A>G (p.Val1108=) c.2724A>G (p.Val908=) c.3672A>G (p.Val1224=) c.3669A>G (p.Val1223=) c.3588A>G (p.Val1196=) c.3519A>G (p.Val1173=) c.3387A>G (p.Val1129=) c.3255A>G (p.Val1085=) | gnomAD v4 |
20 | g.32436120A>T | CA510467230 | ASXL1 | c.3408A>T (p.Val1136=) c.3225A>T (p.Val1075=) n.5761A>T c.1869+1539A>T (n.1869+1539A>T) c.3393A>T (p.Val1131=) c.3405A>T (p.Val1135=) c.3378A>T (p.Val1126=) c.3324A>T (p.Val1108=) c.2724A>T (p.Val908=) c.3672A>T (p.Val1224=) c.3669A>T (p.Val1223=) c.3588A>T (p.Val1196=) c.3519A>T (p.Val1173=) c.3387A>T (p.Val1129=) c.3255A>T (p.Val1085=) | |
20 | g.32436121C>A | CA408563000 | ASXL1 | c.3409C>A (p.Pro1137Thr) c.3226C>A (p.Pro1076Thr) n.5762C>A c.1869+1540C>A (n.1869+1540C>A) c.3394C>A (p.Pro1132Thr) c.3406C>A (p.Pro1136Thr) c.3379C>A (p.Pro1127Thr) c.3325C>A (p.Pro1109Thr) c.2725C>A (p.Pro909Thr) c.3673C>A (p.Pro1225Thr) c.3670C>A (p.Pro1224Thr) c.3589C>A (p.Pro1197Thr) c.3520C>A (p.Pro1174Thr) c.3388C>A (p.Pro1130Thr) c.3256C>A (p.Pro1086Thr) | dbSNP |
20 | g.32436121C>G | CA408563001 | ASXL1 | c.3409C>G (p.Pro1137Ala) c.3226C>G (p.Pro1076Ala) n.5762C>G c.1869+1540C>G (n.1869+1540C>G) c.3394C>G (p.Pro1132Ala) c.3406C>G (p.Pro1136Ala) c.3379C>G (p.Pro1127Ala) c.3325C>G (p.Pro1109Ala) c.2725C>G (p.Pro909Ala) c.3673C>G (p.Pro1225Ala) c.3670C>G (p.Pro1224Ala) c.3589C>G (p.Pro1197Ala) c.3520C>G (p.Pro1174Ala) c.3388C>G (p.Pro1130Ala) c.3256C>G (p.Pro1086Ala) | |
20 | g.32436121C>T | CA408563002 | ASXL1 | c.3409C>T (p.Pro1137Ser) c.3226C>T (p.Pro1076Ser) n.5762C>T c.1869+1540C>T (n.1869+1540C>T) c.3394C>T (p.Pro1132Ser) c.3406C>T (p.Pro1136Ser) c.3379C>T (p.Pro1127Ser) c.3325C>T (p.Pro1109Ser) c.2725C>T (p.Pro909Ser) c.3673C>T (p.Pro1225Ser) c.3670C>T (p.Pro1224Ser) c.3589C>T (p.Pro1197Ser) c.3520C>T (p.Pro1174Ser) c.3388C>T (p.Pro1130Ser) c.3256C>T (p.Pro1086Ser) | |
20 | g.32436122C>A | CA408563003 | ASXL1 | c.3410C>A (p.Pro1137Gln) c.3227C>A (p.Pro1076Gln) n.5763C>A c.1869+1541C>A (n.1869+1541C>A) c.3395C>A (p.Pro1132Gln) c.3407C>A (p.Pro1136Gln) c.3380C>A (p.Pro1127Gln) c.3326C>A (p.Pro1109Gln) c.2726C>A (p.Pro909Gln) c.3674C>A (p.Pro1225Gln) c.3671C>A (p.Pro1224Gln) c.3590C>A (p.Pro1197Gln) c.3521C>A (p.Pro1174Gln) c.3389C>A (p.Pro1130Gln) c.3257C>A (p.Pro1086Gln) | |
20 | g.32436122C= | CA2360293543 | ASXL1 | c.3410C= (p.Pro1137=) c.3227C= (p.Pro1076=) n.5763C= c.1869+1541C= (n.1869+1541C=) c.3395C= (p.Pro1132=) c.3407C= (p.Pro1136=) c.3380C= (p.Pro1127=) c.3326C= (p.Pro1109=) c.2726C= (p.Pro909=) c.3674C= (p.Pro1225=) c.3671C= (p.Pro1224=) c.3590C= (p.Pro1197=) c.3521C= (p.Pro1174=) c.3389C= (p.Pro1130=) c.3257C= (p.Pro1086=) | |
20 | g.32436122C>G | CA408563004 | ASXL1 | c.3410C>G (p.Pro1137Arg) c.3227C>G (p.Pro1076Arg) n.5763C>G c.1869+1541C>G (n.1869+1541C>G) c.3395C>G (p.Pro1132Arg) c.3407C>G (p.Pro1136Arg) c.3380C>G (p.Pro1127Arg) c.3326C>G (p.Pro1109Arg) c.2726C>G (p.Pro909Arg) c.3674C>G (p.Pro1225Arg) c.3671C>G (p.Pro1224Arg) c.3590C>G (p.Pro1197Arg) c.3521C>G (p.Pro1174Arg) c.3389C>G (p.Pro1130Arg) c.3257C>G (p.Pro1086Arg) | |
20 | g.32436122C>T | CA408563005 | ASXL1 | c.3410C>T (p.Pro1137Leu) c.3227C>T (p.Pro1076Leu) n.5763C>T c.1869+1541C>T (n.1869+1541C>T) c.3395C>T (p.Pro1132Leu) c.3407C>T (p.Pro1136Leu) c.3380C>T (p.Pro1127Leu) c.3326C>T (p.Pro1109Leu) c.2726C>T (p.Pro909Leu) c.3674C>T (p.Pro1225Leu) c.3671C>T (p.Pro1224Leu) c.3590C>T (p.Pro1197Leu) c.3521C>T (p.Pro1174Leu) c.3389C>T (p.Pro1130Leu) c.3257C>T (p.Pro1086Leu) | dbSNP gnomAD v4 |
20 | g.32436123A>C | CA510467231 | ASXL1 | c.3411A>C (p.Pro1137=) c.3228A>C (p.Pro1076=) n.5764A>C c.1869+1542A>C (n.1869+1542A>C) c.3396A>C (p.Pro1132=) c.3408A>C (p.Pro1136=) c.3381A>C (p.Pro1127=) c.3327A>C (p.Pro1109=) c.2727A>C (p.Pro909=) c.3675A>C (p.Pro1225=) c.3672A>C (p.Pro1224=) c.3591A>C (p.Pro1197=) c.3522A>C (p.Pro1174=) c.3390A>C (p.Pro1130=) c.3258A>C (p.Pro1086=) | |
20 | g.32436123A>G | CA510467232 | ASXL1 | c.3411A>G (p.Pro1137=) c.3228A>G (p.Pro1076=) n.5764A>G c.1869+1542A>G (n.1869+1542A>G) c.3396A>G (p.Pro1132=) c.3408A>G (p.Pro1136=) c.3381A>G (p.Pro1127=) c.3327A>G (p.Pro1109=) c.2727A>G (p.Pro909=) c.3675A>G (p.Pro1225=) c.3672A>G (p.Pro1224=) c.3591A>G (p.Pro1197=) c.3522A>G (p.Pro1174=) c.3390A>G (p.Pro1130=) c.3258A>G (p.Pro1086=) | |
20 | g.32436123A>T | CA510467233 | ASXL1 | c.3411A>T (p.Pro1137=) c.3228A>T (p.Pro1076=) n.5764A>T c.1869+1542A>T (n.1869+1542A>T) c.3396A>T (p.Pro1132=) c.3408A>T (p.Pro1136=) c.3381A>T (p.Pro1127=) c.3327A>T (p.Pro1109=) c.2727A>T (p.Pro909=) c.3675A>T (p.Pro1225=) c.3672A>T (p.Pro1224=) c.3591A>T (p.Pro1197=) c.3522A>T (p.Pro1174=) c.3390A>T (p.Pro1130=) c.3258A>T (p.Pro1086=) | |
20 | g.32436124C>A | CA408563006 | ASXL1 | c.3412C>A (p.Leu1138Ile) c.3229C>A (p.Leu1077Ile) n.5765C>A c.1869+1543C>A (n.1869+1543C>A) c.3397C>A (p.Leu1133Ile) c.3409C>A (p.Leu1137Ile) c.3382C>A (p.Leu1128Ile) c.3328C>A (p.Leu1110Ile) c.2728C>A (p.Leu910Ile) c.3676C>A (p.Leu1226Ile) c.3673C>A (p.Leu1225Ile) c.3592C>A (p.Leu1198Ile) c.3523C>A (p.Leu1175Ile) c.3391C>A (p.Leu1131Ile) c.3259C>A (p.Leu1087Ile) | |
20 | g.32436124C>G | CA408563008 | ASXL1 | c.3412C>G (p.Leu1138Val) c.3229C>G (p.Leu1077Val) n.5765C>G c.1869+1543C>G (n.1869+1543C>G) c.3397C>G (p.Leu1133Val) c.3409C>G (p.Leu1137Val) c.3382C>G (p.Leu1128Val) c.3328C>G (p.Leu1110Val) c.2728C>G (p.Leu910Val) c.3676C>G (p.Leu1226Val) c.3673C>G (p.Leu1225Val) c.3592C>G (p.Leu1198Val) c.3523C>G (p.Leu1175Val) c.3391C>G (p.Leu1131Val) c.3259C>G (p.Leu1087Val) | |
20 | g.32436124C>T | CA408563007 | ASXL1 | c.3412C>T (p.Leu1138Phe) c.3229C>T (p.Leu1077Phe) n.5765C>T c.1869+1543C>T (n.1869+1543C>T) c.3397C>T (p.Leu1133Phe) c.3409C>T (p.Leu1137Phe) c.3382C>T (p.Leu1128Phe) c.3328C>T (p.Leu1110Phe) c.2728C>T (p.Leu910Phe) c.3676C>T (p.Leu1226Phe) c.3673C>T (p.Leu1225Phe) c.3592C>T (p.Leu1198Phe) c.3523C>T (p.Leu1175Phe) c.3391C>T (p.Leu1131Phe) c.3259C>T (p.Leu1087Phe) | |
20 | g.32436125T>A | CA408563009 | ASXL1 | c.3413T>A (p.Leu1138His) c.3230T>A (p.Leu1077His) n.5766T>A c.1869+1544T>A (n.1869+1544T>A) c.3398T>A (p.Leu1133His) c.3410T>A (p.Leu1137His) c.3383T>A (p.Leu1128His) c.3329T>A (p.Leu1110His) c.2729T>A (p.Leu910His) c.3677T>A (p.Leu1226His) c.3674T>A (p.Leu1225His) c.3593T>A (p.Leu1198His) c.3524T>A (p.Leu1175His) c.3392T>A (p.Leu1131His) c.3260T>A (p.Leu1087His) | |
20 | g.32436125T>C | CA408563010 | ASXL1 | c.3413T>C (p.Leu1138Pro) c.3230T>C (p.Leu1077Pro) n.5766T>C c.1869+1544T>C (n.1869+1544T>C) c.3398T>C (p.Leu1133Pro) c.3410T>C (p.Leu1137Pro) c.3383T>C (p.Leu1128Pro) c.3329T>C (p.Leu1110Pro) c.2729T>C (p.Leu910Pro) c.3677T>C (p.Leu1226Pro) c.3674T>C (p.Leu1225Pro) c.3593T>C (p.Leu1198Pro) c.3524T>C (p.Leu1175Pro) c.3392T>C (p.Leu1131Pro) c.3260T>C (p.Leu1087Pro) | |
20 | g.32436125T>G | CA408563011 | ASXL1 | c.3413T>G (p.Leu1138Arg) c.3230T>G (p.Leu1077Arg) n.5766T>G c.1869+1544T>G (n.1869+1544T>G) c.3398T>G (p.Leu1133Arg) c.3410T>G (p.Leu1137Arg) c.3383T>G (p.Leu1128Arg) c.3329T>G (p.Leu1110Arg) c.2729T>G (p.Leu910Arg) c.3677T>G (p.Leu1226Arg) c.3674T>G (p.Leu1225Arg) c.3593T>G (p.Leu1198Arg) c.3524T>G (p.Leu1175Arg) c.3392T>G (p.Leu1131Arg) c.3260T>G (p.Leu1087Arg) | |
20 | g.32436126T>A | CA510467236 | ASXL1 | c.3414T>A (p.Leu1138=) c.3231T>A (p.Leu1077=) n.5767T>A c.1869+1545T>A (n.1869+1545T>A) c.3399T>A (p.Leu1133=) c.3411T>A (p.Leu1137=) c.3384T>A (p.Leu1128=) c.3330T>A (p.Leu1110=) c.2730T>A (p.Leu910=) c.3678T>A (p.Leu1226=) c.3675T>A (p.Leu1225=) c.3594T>A (p.Leu1198=) c.3525T>A (p.Leu1175=) c.3393T>A (p.Leu1131=) c.3261T>A (p.Leu1087=) | dbSNP gnomAD v4 |
20 | g.32436126T>C | CA510467234 | ASXL1 | c.3414T>C (p.Leu1138=) c.3231T>C (p.Leu1077=) n.5767T>C c.1869+1545T>C (n.1869+1545T>C) c.3399T>C (p.Leu1133=) c.3411T>C (p.Leu1137=) c.3384T>C (p.Leu1128=) c.3330T>C (p.Leu1110=) c.2730T>C (p.Leu910=) c.3678T>C (p.Leu1226=) c.3675T>C (p.Leu1225=) c.3594T>C (p.Leu1198=) c.3525T>C (p.Leu1175=) c.3393T>C (p.Leu1131=) c.3261T>C (p.Leu1087=) | gnomAD v4 |
20 | g.32436126T>G | CA510467235 | ASXL1 | c.3414T>G (p.Leu1138=) c.3231T>G (p.Leu1077=) n.5767T>G c.1869+1545T>G (n.1869+1545T>G) c.3399T>G (p.Leu1133=) c.3411T>G (p.Leu1137=) c.3384T>G (p.Leu1128=) c.3330T>G (p.Leu1110=) c.2730T>G (p.Leu910=) c.3678T>G (p.Leu1226=) c.3675T>G (p.Leu1225=) c.3594T>G (p.Leu1198=) c.3525T>G (p.Leu1175=) c.3393T>G (p.Leu1131=) c.3261T>G (p.Leu1087=) | |
20 | g.32436126T= | CA2360293544 | ASXL1 | c.3414T= (p.Leu1138=) c.3231T= (p.Leu1077=) n.5767T= c.1869+1545T= (n.1869+1545T=) c.3399T= (p.Leu1133=) c.3411T= (p.Leu1137=) c.3384T= (p.Leu1128=) c.3330T= (p.Leu1110=) c.2730T= (p.Leu910=) c.3678T= (p.Leu1226=) c.3675T= (p.Leu1225=) c.3594T= (p.Leu1198=) c.3525T= (p.Leu1175=) c.3393T= (p.Leu1131=) c.3261T= (p.Leu1087=) | |
20 | g.32436127A= | CA2360293545 | ASXL1 | c.3415A= (p.Thr1139=) c.3232A= (p.Thr1078=) n.5768A= c.1869+1546A= (n.1869+1546A=) c.3400A= (p.Thr1134=) c.3412A= (p.Thr1138=) c.3385A= (p.Thr1129=) c.3331A= (p.Thr1111=) c.2731A= (p.Thr911=) c.3679A= (p.Thr1227=) c.3676A= (p.Thr1226=) c.3595A= (p.Thr1199=) c.3526A= (p.Thr1176=) c.3394A= (p.Thr1132=) c.3262A= (p.Thr1088=) | |
20 | g.32436127A>C | CA408563012 | ASXL1 | c.3415A>C (p.Thr1139Pro) c.3232A>C (p.Thr1078Pro) n.5768A>C c.1869+1546A>C (n.1869+1546A>C) c.3400A>C (p.Thr1134Pro) c.3412A>C (p.Thr1138Pro) c.3385A>C (p.Thr1129Pro) c.3331A>C (p.Thr1111Pro) c.2731A>C (p.Thr911Pro) c.3679A>C (p.Thr1227Pro) c.3676A>C (p.Thr1226Pro) c.3595A>C (p.Thr1199Pro) c.3526A>C (p.Thr1176Pro) c.3394A>C (p.Thr1132Pro) c.3262A>C (p.Thr1088Pro) | |
20 | g.32436127A>G | CA408563013 | ASXL1 | c.3415A>G (p.Thr1139Ala) c.3232A>G (p.Thr1078Ala) n.5768A>G c.1869+1546A>G (n.1869+1546A>G) c.3400A>G (p.Thr1134Ala) c.3412A>G (p.Thr1138Ala) c.3385A>G (p.Thr1129Ala) c.3331A>G (p.Thr1111Ala) c.2731A>G (p.Thr911Ala) c.3679A>G (p.Thr1227Ala) c.3676A>G (p.Thr1226Ala) c.3595A>G (p.Thr1199Ala) c.3526A>G (p.Thr1176Ala) c.3394A>G (p.Thr1132Ala) c.3262A>G (p.Thr1088Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436127A>T | CA408563014 | ASXL1 | c.3415A>T (p.Thr1139Ser) c.3232A>T (p.Thr1078Ser) n.5768A>T c.1869+1546A>T (n.1869+1546A>T) c.3400A>T (p.Thr1134Ser) c.3412A>T (p.Thr1138Ser) c.3385A>T (p.Thr1129Ser) c.3331A>T (p.Thr1111Ser) c.2731A>T (p.Thr911Ser) c.3679A>T (p.Thr1227Ser) c.3676A>T (p.Thr1226Ser) c.3595A>T (p.Thr1199Ser) c.3526A>T (p.Thr1176Ser) c.3394A>T (p.Thr1132Ser) c.3262A>T (p.Thr1088Ser) | dbSNP |
20 | g.32436128C>A | CA9808815 | ASXL1 | c.3416C>A (p.Thr1139Lys) c.3233C>A (p.Thr1078Lys) n.5769C>A c.1869+1547C>A (n.1869+1547C>A) c.3401C>A (p.Thr1134Lys) c.3413C>A (p.Thr1138Lys) c.3386C>A (p.Thr1129Lys) c.3332C>A (p.Thr1111Lys) c.2732C>A (p.Thr911Lys) c.3680C>A (p.Thr1227Lys) c.3677C>A (p.Thr1226Lys) c.3596C>A (p.Thr1199Lys) c.3527C>A (p.Thr1176Lys) c.3395C>A (p.Thr1132Lys) c.3263C>A (p.Thr1088Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436128C= | CA2360293546 | ASXL1 | c.3416C= (p.Thr1139=) c.3233C= (p.Thr1078=) n.5769C= c.1869+1547C= (n.1869+1547C=) c.3401C= (p.Thr1134=) c.3413C= (p.Thr1138=) c.3386C= (p.Thr1129=) c.3332C= (p.Thr1111=) c.2732C= (p.Thr911=) c.3680C= (p.Thr1227=) c.3677C= (p.Thr1226=) c.3596C= (p.Thr1199=) c.3527C= (p.Thr1176=) c.3395C= (p.Thr1132=) c.3263C= (p.Thr1088=) | |
20 | g.32436128C>G | CA408563015 | ASXL1 | c.3416C>G (p.Thr1139Arg) c.3233C>G (p.Thr1078Arg) n.5769C>G c.1869+1547C>G (n.1869+1547C>G) c.3401C>G (p.Thr1134Arg) c.3413C>G (p.Thr1138Arg) c.3386C>G (p.Thr1129Arg) c.3332C>G (p.Thr1111Arg) c.2732C>G (p.Thr911Arg) c.3680C>G (p.Thr1227Arg) c.3677C>G (p.Thr1226Arg) c.3596C>G (p.Thr1199Arg) c.3527C>G (p.Thr1176Arg) c.3395C>G (p.Thr1132Arg) c.3263C>G (p.Thr1088Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436128C>T | CA408563016 | ASXL1 | c.3416C>T (p.Thr1139Ile) c.3233C>T (p.Thr1078Ile) n.5769C>T c.1869+1547C>T (n.1869+1547C>T) c.3401C>T (p.Thr1134Ile) c.3413C>T (p.Thr1138Ile) c.3386C>T (p.Thr1129Ile) c.3332C>T (p.Thr1111Ile) c.2732C>T (p.Thr911Ile) c.3680C>T (p.Thr1227Ile) c.3677C>T (p.Thr1226Ile) c.3596C>T (p.Thr1199Ile) c.3527C>T (p.Thr1176Ile) c.3395C>T (p.Thr1132Ile) c.3263C>T (p.Thr1088Ile) | dbSNP gnomAD v4 |
20 | g.32436129A= | CA2360293547 | ASXL1 | c.3417A= (p.Thr1139=) c.3234A= (p.Thr1078=) n.5770A= c.1869+1548A= (n.1869+1548A=) c.3402A= (p.Thr1134=) c.3414A= (p.Thr1138=) c.3387A= (p.Thr1129=) c.3333A= (p.Thr1111=) c.2733A= (p.Thr911=) c.3681A= (p.Thr1227=) c.3678A= (p.Thr1226=) c.3597A= (p.Thr1199=) c.3528A= (p.Thr1176=) c.3396A= (p.Thr1132=) c.3264A= (p.Thr1088=) | |
20 | g.32436129A>C | CA510467237 | ASXL1 | c.3417A>C (p.Thr1139=) c.3234A>C (p.Thr1078=) n.5770A>C c.1869+1548A>C (n.1869+1548A>C) c.3402A>C (p.Thr1134=) c.3414A>C (p.Thr1138=) c.3387A>C (p.Thr1129=) c.3333A>C (p.Thr1111=) c.2733A>C (p.Thr911=) c.3681A>C (p.Thr1227=) c.3678A>C (p.Thr1226=) c.3597A>C (p.Thr1199=) c.3528A>C (p.Thr1176=) c.3396A>C (p.Thr1132=) c.3264A>C (p.Thr1088=) | |
20 | g.32436129A>G | CA9808816 | ASXL1 | c.3417A>G (p.Thr1139=) c.3234A>G (p.Thr1078=) n.5770A>G c.1869+1548A>G (n.1869+1548A>G) c.3402A>G (p.Thr1134=) c.3414A>G (p.Thr1138=) c.3387A>G (p.Thr1129=) c.3333A>G (p.Thr1111=) c.2733A>G (p.Thr911=) c.3681A>G (p.Thr1227=) c.3678A>G (p.Thr1226=) c.3597A>G (p.Thr1199=) c.3528A>G (p.Thr1176=) c.3396A>G (p.Thr1132=) c.3264A>G (p.Thr1088=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436129A>T | CA510467238 | ASXL1 | c.3417A>T (p.Thr1139=) c.3234A>T (p.Thr1078=) n.5770A>T c.1869+1548A>T (n.1869+1548A>T) c.3402A>T (p.Thr1134=) c.3414A>T (p.Thr1138=) c.3387A>T (p.Thr1129=) c.3333A>T (p.Thr1111=) c.2733A>T (p.Thr911=) c.3681A>T (p.Thr1227=) c.3678A>T (p.Thr1226=) c.3597A>T (p.Thr1199=) c.3528A>T (p.Thr1176=) c.3396A>T (p.Thr1132=) c.3264A>T (p.Thr1088=) | |
20 | g.32436132dup | CA313926345 | ASXL1 | c.3420dup (p.Asp1141ArgfsTer23) c.3237dup (p.Asp1080ArgfsTer23) n.5773dup c.1869+1551dup (n.1869+1551dup) c.3405dup (p.Asp1136ArgfsTer23) c.3417dup (p.Asp1140ArgfsTer23) c.3390dup (p.Asp1131ArgfsTer23) c.3336dup (p.Asp1113ArgfsTer23) c.2736dup (p.Asp913ArgfsTer23) c.3684dup (p.Asp1229ArgfsTer23) c.3681dup (p.Asp1228ArgfsTer23) c.3600dup (p.Asp1201ArgfsTer23) c.3531dup (p.Asp1178ArgfsTer23) c.3399dup (p.Asp1134ArgfsTer23) c.3267dup (p.Asp1090ArgfsTer23) | dbSNP |
20 | g.32436130A>C | CA408563017 | ASXL1 | c.3418A>C (p.Lys1140Gln) c.3235A>C (p.Lys1079Gln) n.5771A>C c.1869+1549A>C (n.1869+1549A>C) c.3403A>C (p.Lys1135Gln) c.3415A>C (p.Lys1139Gln) c.3388A>C (p.Lys1130Gln) c.3334A>C (p.Lys1112Gln) c.2734A>C (p.Lys912Gln) c.3682A>C (p.Lys1228Gln) c.3679A>C (p.Lys1227Gln) c.3598A>C (p.Lys1200Gln) c.3529A>C (p.Lys1177Gln) c.3397A>C (p.Lys1133Gln) c.3265A>C (p.Lys1089Gln) | |
20 | g.32436130A>G | CA408563018 | ASXL1 | c.3418A>G (p.Lys1140Glu) c.3235A>G (p.Lys1079Glu) n.5771A>G c.1869+1549A>G (n.1869+1549A>G) c.3403A>G (p.Lys1135Glu) c.3415A>G (p.Lys1139Glu) c.3388A>G (p.Lys1130Glu) c.3334A>G (p.Lys1112Glu) c.2734A>G (p.Lys912Glu) c.3682A>G (p.Lys1228Glu) c.3679A>G (p.Lys1227Glu) c.3598A>G (p.Lys1200Glu) c.3529A>G (p.Lys1177Glu) c.3397A>G (p.Lys1133Glu) c.3265A>G (p.Lys1089Glu) | |
20 | g.32436130A>T | CA408563019 | ASXL1 | c.3418A>T (p.Lys1140Ter) c.3235A>T (p.Lys1079Ter) n.5771A>T c.1869+1549A>T (n.1869+1549A>T) c.3403A>T (p.Lys1135Ter) c.3415A>T (p.Lys1139Ter) c.3388A>T (p.Lys1130Ter) c.3334A>T (p.Lys1112Ter) c.2734A>T (p.Lys912Ter) c.3682A>T (p.Lys1228Ter) c.3679A>T (p.Lys1227Ter) c.3598A>T (p.Lys1200Ter) c.3529A>T (p.Lys1177Ter) c.3397A>T (p.Lys1133Ter) c.3265A>T (p.Lys1089Ter) | |
20 | g.32436131A>C | CA408563022 | ASXL1 | c.3419A>C (p.Lys1140Thr) c.3236A>C (p.Lys1079Thr) n.5772A>C c.1869+1550A>C (n.1869+1550A>C) c.3404A>C (p.Lys1135Thr) c.3416A>C (p.Lys1139Thr) c.3389A>C (p.Lys1130Thr) c.3335A>C (p.Lys1112Thr) c.2735A>C (p.Lys912Thr) c.3683A>C (p.Lys1228Thr) c.3680A>C (p.Lys1227Thr) c.3599A>C (p.Lys1200Thr) c.3530A>C (p.Lys1177Thr) c.3398A>C (p.Lys1133Thr) c.3266A>C (p.Lys1089Thr) | |
20 | g.32436131A>G | CA408563021 | ASXL1 | c.3419A>G (p.Lys1140Arg) c.3236A>G (p.Lys1079Arg) n.5772A>G c.1869+1550A>G (n.1869+1550A>G) c.3404A>G (p.Lys1135Arg) c.3416A>G (p.Lys1139Arg) c.3389A>G (p.Lys1130Arg) c.3335A>G (p.Lys1112Arg) c.2735A>G (p.Lys912Arg) c.3683A>G (p.Lys1228Arg) c.3680A>G (p.Lys1227Arg) c.3599A>G (p.Lys1200Arg) c.3530A>G (p.Lys1177Arg) c.3398A>G (p.Lys1133Arg) c.3266A>G (p.Lys1089Arg) | |
20 | g.32436131A>T | CA408563020 | ASXL1 | c.3419A>T (p.Lys1140Ile) c.3236A>T (p.Lys1079Ile) n.5772A>T c.1869+1550A>T (n.1869+1550A>T) c.3404A>T (p.Lys1135Ile) c.3416A>T (p.Lys1139Ile) c.3389A>T (p.Lys1130Ile) c.3335A>T (p.Lys1112Ile) c.2735A>T (p.Lys912Ile) c.3683A>T (p.Lys1228Ile) c.3680A>T (p.Lys1227Ile) c.3599A>T (p.Lys1200Ile) c.3530A>T (p.Lys1177Ile) c.3398A>T (p.Lys1133Ile) c.3266A>T (p.Lys1089Ile) | |
20 | g.32436132A>C | CA408563023 | ASXL1 | c.3420A>C (p.Lys1140Asn) c.3237A>C (p.Lys1079Asn) n.5773A>C c.1869+1551A>C (n.1869+1551A>C) c.3405A>C (p.Lys1135Asn) c.3417A>C (p.Lys1139Asn) c.3390A>C (p.Lys1130Asn) c.3336A>C (p.Lys1112Asn) c.2736A>C (p.Lys912Asn) c.3684A>C (p.Lys1228Asn) c.3681A>C (p.Lys1227Asn) c.3600A>C (p.Lys1200Asn) c.3531A>C (p.Lys1177Asn) c.3399A>C (p.Lys1133Asn) c.3267A>C (p.Lys1089Asn) | |
20 | g.32436132A>G | CA510467239 | ASXL1 | c.3420A>G (p.Lys1140=) c.3237A>G (p.Lys1079=) n.5773A>G c.1869+1551A>G (n.1869+1551A>G) c.3405A>G (p.Lys1135=) c.3417A>G (p.Lys1139=) c.3390A>G (p.Lys1130=) c.3336A>G (p.Lys1112=) c.2736A>G (p.Lys912=) c.3684A>G (p.Lys1228=) c.3681A>G (p.Lys1227=) c.3600A>G (p.Lys1200=) c.3531A>G (p.Lys1177=) c.3399A>G (p.Lys1133=) c.3267A>G (p.Lys1089=) | |
20 | g.32436132A>T | CA408563024 | ASXL1 | c.3420A>T (p.Lys1140Asn) c.3237A>T (p.Lys1079Asn) n.5773A>T c.1869+1551A>T (n.1869+1551A>T) c.3405A>T (p.Lys1135Asn) c.3417A>T (p.Lys1139Asn) c.3390A>T (p.Lys1130Asn) c.3336A>T (p.Lys1112Asn) c.2736A>T (p.Lys912Asn) c.3684A>T (p.Lys1228Asn) c.3681A>T (p.Lys1227Asn) c.3600A>T (p.Lys1200Asn) c.3531A>T (p.Lys1177Asn) c.3399A>T (p.Lys1133Asn) c.3267A>T (p.Lys1089Asn) | |
20 | g.32436133G>A | CA408563025 | ASXL1 | c.3421G>A (p.Asp1141Asn) c.3238G>A (p.Asp1080Asn) n.5774G>A c.1869+1552G>A (n.1869+1552G>A) c.3406G>A (p.Asp1136Asn) c.3418G>A (p.Asp1140Asn) c.3391G>A (p.Asp1131Asn) c.3337G>A (p.Asp1113Asn) c.2737G>A (p.Asp913Asn) c.3685G>A (p.Asp1229Asn) c.3682G>A (p.Asp1228Asn) c.3601G>A (p.Asp1201Asn) c.3532G>A (p.Asp1178Asn) c.3400G>A (p.Asp1134Asn) c.3268G>A (p.Asp1090Asn) | |
20 | g.32436133G>C | CA408563026 | ASXL1 | c.3421G>C (p.Asp1141His) c.3238G>C (p.Asp1080His) n.5774G>C c.1869+1552G>C (n.1869+1552G>C) c.3406G>C (p.Asp1136His) c.3418G>C (p.Asp1140His) c.3391G>C (p.Asp1131His) c.3337G>C (p.Asp1113His) c.2737G>C (p.Asp913His) c.3685G>C (p.Asp1229His) c.3682G>C (p.Asp1228His) c.3601G>C (p.Asp1201His) c.3532G>C (p.Asp1178His) c.3400G>C (p.Asp1134His) c.3268G>C (p.Asp1090His) | dbSNP |
20 | g.32436133G>T | CA408563027 | ASXL1 | c.3421G>T (p.Asp1141Tyr) c.3238G>T (p.Asp1080Tyr) n.5774G>T c.1869+1552G>T (n.1869+1552G>T) c.3406G>T (p.Asp1136Tyr) c.3418G>T (p.Asp1140Tyr) c.3391G>T (p.Asp1131Tyr) c.3337G>T (p.Asp1113Tyr) c.2737G>T (p.Asp913Tyr) c.3685G>T (p.Asp1229Tyr) c.3682G>T (p.Asp1228Tyr) c.3601G>T (p.Asp1201Tyr) c.3532G>T (p.Asp1178Tyr) c.3400G>T (p.Asp1134Tyr) c.3268G>T (p.Asp1090Tyr) | gnomAD v4 |
20 | g.32436134A= | CA2360293548 | ASXL1 | c.3422A= (p.Asp1141=) c.3239A= (p.Asp1080=) n.5775A= c.1869+1553A= (n.1869+1553A=) c.3407A= (p.Asp1136=) c.3419A= (p.Asp1140=) c.3392A= (p.Asp1131=) c.3338A= (p.Asp1113=) c.2738A= (p.Asp913=) c.3686A= (p.Asp1229=) c.3683A= (p.Asp1228=) c.3602A= (p.Asp1201=) c.3533A= (p.Asp1178=) c.3401A= (p.Asp1134=) c.3269A= (p.Asp1090=) | |
20 | g.32436134A>C | CA9808817 | ASXL1 | c.3422A>C (p.Asp1141Ala) c.3239A>C (p.Asp1080Ala) n.5775A>C c.1869+1553A>C (n.1869+1553A>C) c.3407A>C (p.Asp1136Ala) c.3419A>C (p.Asp1140Ala) c.3392A>C (p.Asp1131Ala) c.3338A>C (p.Asp1113Ala) c.2738A>C (p.Asp913Ala) c.3686A>C (p.Asp1229Ala) c.3683A>C (p.Asp1228Ala) c.3602A>C (p.Asp1201Ala) c.3533A>C (p.Asp1178Ala) c.3401A>C (p.Asp1134Ala) c.3269A>C (p.Asp1090Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436134A>G | CA408563028 | ASXL1 | c.3422A>G (p.Asp1141Gly) c.3239A>G (p.Asp1080Gly) n.5775A>G c.1869+1553A>G (n.1869+1553A>G) c.3407A>G (p.Asp1136Gly) c.3419A>G (p.Asp1140Gly) c.3392A>G (p.Asp1131Gly) c.3338A>G (p.Asp1113Gly) c.2738A>G (p.Asp913Gly) c.3686A>G (p.Asp1229Gly) c.3683A>G (p.Asp1228Gly) c.3602A>G (p.Asp1201Gly) c.3533A>G (p.Asp1178Gly) c.3401A>G (p.Asp1134Gly) c.3269A>G (p.Asp1090Gly) | |
20 | g.32436134A>T | CA408563029 | ASXL1 | c.3422A>T (p.Asp1141Val) c.3239A>T (p.Asp1080Val) n.5775A>T c.1869+1553A>T (n.1869+1553A>T) c.3407A>T (p.Asp1136Val) c.3419A>T (p.Asp1140Val) c.3392A>T (p.Asp1131Val) c.3338A>T (p.Asp1113Val) c.2738A>T (p.Asp913Val) c.3686A>T (p.Asp1229Val) c.3683A>T (p.Asp1228Val) c.3602A>T (p.Asp1201Val) c.3533A>T (p.Asp1178Val) c.3401A>T (p.Asp1134Val) c.3269A>T (p.Asp1090Val) | |
20 | g.32436135C>A | CA408563030 | ASXL1 | c.3423C>A (p.Asp1141Glu) c.3240C>A (p.Asp1080Glu) n.5776C>A c.1869+1554C>A (n.1869+1554C>A) c.3408C>A (p.Asp1136Glu) c.3420C>A (p.Asp1140Glu) c.3393C>A (p.Asp1131Glu) c.3339C>A (p.Asp1113Glu) c.2739C>A (p.Asp913Glu) c.3687C>A (p.Asp1229Glu) c.3684C>A (p.Asp1228Glu) c.3603C>A (p.Asp1201Glu) c.3534C>A (p.Asp1178Glu) c.3402C>A (p.Asp1134Glu) c.3270C>A (p.Asp1090Glu) | dbSNP |
20 | g.32436135C>G | CA408563031 | ASXL1 | c.3423C>G (p.Asp1141Glu) c.3240C>G (p.Asp1080Glu) n.5776C>G c.1869+1554C>G (n.1869+1554C>G) c.3408C>G (p.Asp1136Glu) c.3420C>G (p.Asp1140Glu) c.3393C>G (p.Asp1131Glu) c.3339C>G (p.Asp1113Glu) c.2739C>G (p.Asp913Glu) c.3687C>G (p.Asp1229Glu) c.3684C>G (p.Asp1228Glu) c.3603C>G (p.Asp1201Glu) c.3534C>G (p.Asp1178Glu) c.3402C>G (p.Asp1134Glu) c.3270C>G (p.Asp1090Glu) | dbSNP |
20 | g.32436135C>T | CA510467240 | ASXL1 | c.3423C>T (p.Asp1141=) c.3240C>T (p.Asp1080=) n.5776C>T c.1869+1554C>T (n.1869+1554C>T) c.3408C>T (p.Asp1136=) c.3420C>T (p.Asp1140=) c.3393C>T (p.Asp1131=) c.3339C>T (p.Asp1113=) c.2739C>T (p.Asp913=) c.3687C>T (p.Asp1229=) c.3684C>T (p.Asp1228=) c.3603C>T (p.Asp1201=) c.3534C>T (p.Asp1178=) c.3402C>T (p.Asp1134=) c.3270C>T (p.Asp1090=) | gnomAD v3 gnomAD v4 |
20 | g.32436136del | CA2736732344 | ASXL1 | c.3424del (p.Gln1142ArgfsTer29) c.3241del (p.Gln1081ArgfsTer29) n.5777del c.1869+1555del (n.1869+1555del) c.3409del (p.Gln1137ArgfsTer29) c.3421del (p.Gln1141ArgfsTer29) c.3394del (p.Gln1132ArgfsTer29) c.3340del (p.Gln1114ArgfsTer29) c.2740del (p.Gln914ArgfsTer29) c.3688del (p.Gln1230ArgfsTer29) c.3685del (p.Gln1229ArgfsTer29) c.3604del (p.Gln1202ArgfsTer29) c.3535del (p.Gln1179ArgfsTer29) c.3403del (p.Gln1135ArgfsTer29) c.3271del (p.Gln1091ArgfsTer29) | dbSNP |
20 | g.32436136C>A | CA408563032 | ASXL1 | c.3424C>A (p.Gln1142Lys) c.3241C>A (p.Gln1081Lys) n.5777C>A c.1869+1555C>A (n.1869+1555C>A) c.3409C>A (p.Gln1137Lys) c.3421C>A (p.Gln1141Lys) c.3394C>A (p.Gln1132Lys) c.3340C>A (p.Gln1114Lys) c.2740C>A (p.Gln914Lys) c.3688C>A (p.Gln1230Lys) c.3685C>A (p.Gln1229Lys) c.3604C>A (p.Gln1202Lys) c.3535C>A (p.Gln1179Lys) c.3403C>A (p.Gln1135Lys) c.3271C>A (p.Gln1091Lys) | dbSNP |
20 | g.32436136C= | CA2360293549 | ASXL1 | c.3424C= (p.Gln1142=) c.3241C= (p.Gln1081=) n.5777C= c.1869+1555C= (n.1869+1555C=) c.3409C= (p.Gln1137=) c.3421C= (p.Gln1141=) c.3394C= (p.Gln1132=) c.3340C= (p.Gln1114=) c.2740C= (p.Gln914=) c.3688C= (p.Gln1230=) c.3685C= (p.Gln1229=) c.3604C= (p.Gln1202=) c.3535C= (p.Gln1179=) c.3403C= (p.Gln1135=) c.3271C= (p.Gln1091=) | |
20 | g.32436136C>G | CA408563033 | ASXL1 | c.3424C>G (p.Gln1142Glu) c.3241C>G (p.Gln1081Glu) n.5777C>G c.1869+1555C>G (n.1869+1555C>G) c.3409C>G (p.Gln1137Glu) c.3421C>G (p.Gln1141Glu) c.3394C>G (p.Gln1132Glu) c.3340C>G (p.Gln1114Glu) c.2740C>G (p.Gln914Glu) c.3688C>G (p.Gln1230Glu) c.3685C>G (p.Gln1229Glu) c.3604C>G (p.Gln1202Glu) c.3535C>G (p.Gln1179Glu) c.3403C>G (p.Gln1135Glu) c.3271C>G (p.Gln1091Glu) | |
20 | g.32436136C>T | CA408563034 | ASXL1 | c.3424C>T (p.Gln1142Ter) c.3241C>T (p.Gln1081Ter) n.5777C>T c.1869+1555C>T (n.1869+1555C>T) c.3409C>T (p.Gln1137Ter) c.3421C>T (p.Gln1141Ter) c.3394C>T (p.Gln1132Ter) c.3340C>T (p.Gln1114Ter) c.2740C>T (p.Gln914Ter) c.3688C>T (p.Gln1230Ter) c.3685C>T (p.Gln1229Ter) c.3604C>T (p.Gln1202Ter) c.3535C>T (p.Gln1179Ter) c.3403C>T (p.Gln1135Ter) c.3271C>T (p.Gln1091Ter) | dbSNP gnomAD v4 |
20 | g.32436137A= | CA2360293550 | ASXL1 | c.3425A= (p.Gln1142=) c.3242A= (p.Gln1081=) n.5778A= c.1869+1556A= (n.1869+1556A=) c.3410A= (p.Gln1137=) c.3422A= (p.Gln1141=) c.3395A= (p.Gln1132=) c.3341A= (p.Gln1114=) c.2741A= (p.Gln914=) c.3689A= (p.Gln1230=) c.3686A= (p.Gln1229=) c.3605A= (p.Gln1202=) c.3536A= (p.Gln1179=) c.3404A= (p.Gln1135=) c.3272A= (p.Gln1091=) | |
20 | g.32436137A>C | CA408563036 | ASXL1 | c.3425A>C (p.Gln1142Pro) c.3242A>C (p.Gln1081Pro) n.5778A>C c.1869+1556A>C (n.1869+1556A>C) c.3410A>C (p.Gln1137Pro) c.3422A>C (p.Gln1141Pro) c.3395A>C (p.Gln1132Pro) c.3341A>C (p.Gln1114Pro) c.2741A>C (p.Gln914Pro) c.3689A>C (p.Gln1230Pro) c.3686A>C (p.Gln1229Pro) c.3605A>C (p.Gln1202Pro) c.3536A>C (p.Gln1179Pro) c.3404A>C (p.Gln1135Pro) c.3272A>C (p.Gln1091Pro) | |
20 | g.32436137A>G | CA408563037 | ASXL1 | c.3425A>G (p.Gln1142Arg) c.3242A>G (p.Gln1081Arg) n.5778A>G c.1869+1556A>G (n.1869+1556A>G) c.3410A>G (p.Gln1137Arg) c.3422A>G (p.Gln1141Arg) c.3395A>G (p.Gln1132Arg) c.3341A>G (p.Gln1114Arg) c.2741A>G (p.Gln914Arg) c.3689A>G (p.Gln1230Arg) c.3686A>G (p.Gln1229Arg) c.3605A>G (p.Gln1202Arg) c.3536A>G (p.Gln1179Arg) c.3404A>G (p.Gln1135Arg) c.3272A>G (p.Gln1091Arg) | ClinVar dbSNP |
20 | g.32436137A>T | CA408563035 | ASXL1 | c.3425A>T (p.Gln1142Leu) c.3242A>T (p.Gln1081Leu) n.5778A>T c.1869+1556A>T (n.1869+1556A>T) c.3410A>T (p.Gln1137Leu) c.3422A>T (p.Gln1141Leu) c.3395A>T (p.Gln1132Leu) c.3341A>T (p.Gln1114Leu) c.2741A>T (p.Gln914Leu) c.3689A>T (p.Gln1230Leu) c.3686A>T (p.Gln1229Leu) c.3605A>T (p.Gln1202Leu) c.3536A>T (p.Gln1179Leu) c.3404A>T (p.Gln1135Leu) c.3272A>T (p.Gln1091Leu) | |
20 | g.32436138G>A | CA510467241 | ASXL1 | c.3426G>A (p.Gln1142=) c.3243G>A (p.Gln1081=) n.5779G>A c.1869+1557G>A (n.1869+1557G>A) c.3411G>A (p.Gln1137=) c.3423G>A (p.Gln1141=) c.3396G>A (p.Gln1132=) c.3342G>A (p.Gln1114=) c.2742G>A (p.Gln914=) c.3690G>A (p.Gln1230=) c.3687G>A (p.Gln1229=) c.3606G>A (p.Gln1202=) c.3537G>A (p.Gln1179=) c.3405G>A (p.Gln1135=) c.3273G>A (p.Gln1091=) | |
20 | g.32436138G>C | CA408563038 | ASXL1 | c.3426G>C (p.Gln1142His) c.3243G>C (p.Gln1081His) n.5779G>C c.1869+1557G>C (n.1869+1557G>C) c.3411G>C (p.Gln1137His) c.3423G>C (p.Gln1141His) c.3396G>C (p.Gln1132His) c.3342G>C (p.Gln1114His) c.2742G>C (p.Gln914His) c.3690G>C (p.Gln1230His) c.3687G>C (p.Gln1229His) c.3606G>C (p.Gln1202His) c.3537G>C (p.Gln1179His) c.3405G>C (p.Gln1135His) c.3273G>C (p.Gln1091His) | dbSNP |
20 | g.32436138G>T | CA408563039 | ASXL1 | c.3426G>T (p.Gln1142His) c.3243G>T (p.Gln1081His) n.5779G>T c.1869+1557G>T (n.1869+1557G>T) c.3411G>T (p.Gln1137His) c.3423G>T (p.Gln1141His) c.3396G>T (p.Gln1132His) c.3342G>T (p.Gln1114His) c.2742G>T (p.Gln914His) c.3690G>T (p.Gln1230His) c.3687G>T (p.Gln1229His) c.3606G>T (p.Gln1202His) c.3537G>T (p.Gln1179His) c.3405G>T (p.Gln1135His) c.3273G>T (p.Gln1091His) | |
20 | g.32436139A= | CA2360293551 | ASXL1 | c.3427A= (p.Ser1143=) c.3244A= (p.Ser1082=) n.5780A= c.1869+1558A= (n.1869+1558A=) c.3412A= (p.Ser1138=) c.3424A= (p.Ser1142=) c.3397A= (p.Ser1133=) c.3343A= (p.Ser1115=) c.2743A= (p.Ser915=) c.3691A= (p.Ser1231=) c.3688A= (p.Ser1230=) c.3607A= (p.Ser1203=) c.3538A= (p.Ser1180=) c.3406A= (p.Ser1136=) c.3274A= (p.Ser1092=) | |
20 | g.32436139A>C | CA9808818 | ASXL1 | c.3427A>C (p.Ser1143Arg) c.3244A>C (p.Ser1082Arg) n.5780A>C c.1869+1558A>C (n.1869+1558A>C) c.3412A>C (p.Ser1138Arg) c.3424A>C (p.Ser1142Arg) c.3397A>C (p.Ser1133Arg) c.3343A>C (p.Ser1115Arg) c.2743A>C (p.Ser915Arg) c.3691A>C (p.Ser1231Arg) c.3688A>C (p.Ser1230Arg) c.3607A>C (p.Ser1203Arg) c.3538A>C (p.Ser1180Arg) c.3406A>C (p.Ser1136Arg) c.3274A>C (p.Ser1092Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436139A>G | CA408563040 | ASXL1 | c.3427A>G (p.Ser1143Gly) c.3244A>G (p.Ser1082Gly) n.5780A>G c.1869+1558A>G (n.1869+1558A>G) c.3412A>G (p.Ser1138Gly) c.3424A>G (p.Ser1142Gly) c.3397A>G (p.Ser1133Gly) c.3343A>G (p.Ser1115Gly) c.2743A>G (p.Ser915Gly) c.3691A>G (p.Ser1231Gly) c.3688A>G (p.Ser1230Gly) c.3607A>G (p.Ser1203Gly) c.3538A>G (p.Ser1180Gly) c.3406A>G (p.Ser1136Gly) c.3274A>G (p.Ser1092Gly) | |
20 | g.32436139A>T | CA408563041 | ASXL1 | c.3427A>T (p.Ser1143Cys) c.3244A>T (p.Ser1082Cys) n.5780A>T c.1869+1558A>T (n.1869+1558A>T) c.3412A>T (p.Ser1138Cys) c.3424A>T (p.Ser1142Cys) c.3397A>T (p.Ser1133Cys) c.3343A>T (p.Ser1115Cys) c.2743A>T (p.Ser915Cys) c.3691A>T (p.Ser1231Cys) c.3688A>T (p.Ser1230Cys) c.3607A>T (p.Ser1203Cys) c.3538A>T (p.Ser1180Cys) c.3406A>T (p.Ser1136Cys) c.3274A>T (p.Ser1092Cys) | |
20 | g.32436140G>A | CA408563042 | ASXL1 | c.3428G>A (p.Ser1143Asn) c.3245G>A (p.Ser1082Asn) n.5781G>A c.1869+1559G>A (n.1869+1559G>A) c.3413G>A (p.Ser1138Asn) c.3425G>A (p.Ser1142Asn) c.3398G>A (p.Ser1133Asn) c.3344G>A (p.Ser1115Asn) c.2744G>A (p.Ser915Asn) c.3692G>A (p.Ser1231Asn) c.3689G>A (p.Ser1230Asn) c.3608G>A (p.Ser1203Asn) c.3539G>A (p.Ser1180Asn) c.3407G>A (p.Ser1136Asn) c.3275G>A (p.Ser1092Asn) | dbSNP |
20 | g.32436140G>C | CA408563043 | ASXL1 | c.3428G>C (p.Ser1143Thr) c.3245G>C (p.Ser1082Thr) n.5781G>C c.1869+1559G>C (n.1869+1559G>C) c.3413G>C (p.Ser1138Thr) c.3425G>C (p.Ser1142Thr) c.3398G>C (p.Ser1133Thr) c.3344G>C (p.Ser1115Thr) c.2744G>C (p.Ser915Thr) c.3692G>C (p.Ser1231Thr) c.3689G>C (p.Ser1230Thr) c.3608G>C (p.Ser1203Thr) c.3539G>C (p.Ser1180Thr) c.3407G>C (p.Ser1136Thr) c.3275G>C (p.Ser1092Thr) | |
20 | g.32436140G>T | CA408563044 | ASXL1 | c.3428G>T (p.Ser1143Ile) c.3245G>T (p.Ser1082Ile) n.5781G>T c.1869+1559G>T (n.1869+1559G>T) c.3413G>T (p.Ser1138Ile) c.3425G>T (p.Ser1142Ile) c.3398G>T (p.Ser1133Ile) c.3344G>T (p.Ser1115Ile) c.2744G>T (p.Ser915Ile) c.3692G>T (p.Ser1231Ile) c.3689G>T (p.Ser1230Ile) c.3608G>T (p.Ser1203Ile) c.3539G>T (p.Ser1180Ile) c.3407G>T (p.Ser1136Ile) c.3275G>T (p.Ser1092Ile) | |
20 | g.32436141C>A | CA408563045 | ASXL1 | c.3429C>A (p.Ser1143Arg) c.3246C>A (p.Ser1082Arg) n.5782C>A c.1869+1560C>A (n.1869+1560C>A) c.3414C>A (p.Ser1138Arg) c.3426C>A (p.Ser1142Arg) c.3399C>A (p.Ser1133Arg) c.3345C>A (p.Ser1115Arg) c.2745C>A (p.Ser915Arg) c.3693C>A (p.Ser1231Arg) c.3690C>A (p.Ser1230Arg) c.3609C>A (p.Ser1203Arg) c.3540C>A (p.Ser1180Arg) c.3408C>A (p.Ser1136Arg) c.3276C>A (p.Ser1092Arg) | dbSNP |
20 | g.32436141C>G | CA408563046 | ASXL1 | c.3429C>G (p.Ser1143Arg) c.3246C>G (p.Ser1082Arg) n.5782C>G c.1869+1560C>G (n.1869+1560C>G) c.3414C>G (p.Ser1138Arg) c.3426C>G (p.Ser1142Arg) c.3399C>G (p.Ser1133Arg) c.3345C>G (p.Ser1115Arg) c.2745C>G (p.Ser915Arg) c.3693C>G (p.Ser1231Arg) c.3690C>G (p.Ser1230Arg) c.3609C>G (p.Ser1203Arg) c.3540C>G (p.Ser1180Arg) c.3408C>G (p.Ser1136Arg) c.3276C>G (p.Ser1092Arg) | |
20 | g.32436141C>T | CA510467242 | ASXL1 | c.3429C>T (p.Ser1143=) c.3246C>T (p.Ser1082=) n.5782C>T c.1869+1560C>T (n.1869+1560C>T) c.3414C>T (p.Ser1138=) c.3426C>T (p.Ser1142=) c.3399C>T (p.Ser1133=) c.3345C>T (p.Ser1115=) c.2745C>T (p.Ser915=) c.3693C>T (p.Ser1231=) c.3690C>T (p.Ser1230=) c.3609C>T (p.Ser1203=) c.3540C>T (p.Ser1180=) c.3408C>T (p.Ser1136=) c.3276C>T (p.Ser1092=) | |
20 | g.32436141_32436155delinsCCATGGCTCGCTACG | CA2360293552 | ASXL1 | c.3429_3443delinsCCATGGCTCGCTACG (p.Ser1143=) c.3246_3260delinsCCATGGCTCGCTACG (p.Ser1082=) n.5782_5796delinsCCATGGCTCGCTACG c.1869+1560_1869+1574delinsCCATGGCTCGCTACG (n.1869+1560_1869+1574delinsCCATGGCTCGCTACG) c.3414_3428delinsCCATGGCTCGCTACG (p.Ser1138=) c.3426_3440delinsCCATGGCTCGCTACG (p.Ser1142=) c.3399_3413delinsCCATGGCTCGCTACG (p.Ser1133=) c.3345_3359delinsCCATGGCTCGCTACG (p.Ser1115=) c.2745_2759delinsCCATGGCTCGCTACG (p.Ser915=) c.3693_3707delinsCCATGGCTCGCTACG (p.Ser1231=) c.3690_3704delinsCCATGGCTCGCTACG (p.Ser1230=) c.3609_3623delinsCCATGGCTCGCTACG (p.Ser1203=) c.3540_3554delinsCCATGGCTCGCTACG (p.Ser1180=) c.3408_3422delinsCCATGGCTCGCTACG (p.Ser1136=) c.3276_3290delinsCCATGGCTCGCTACG (p.Ser1092=) | |
20 | g.32436142C>A | CA408563049 | ASXL1 | c.3430C>A (p.His1144Asn) c.3247C>A (p.His1083Asn) n.5783C>A c.1869+1561C>A (n.1869+1561C>A) c.3415C>A (p.His1139Asn) c.3427C>A (p.His1143Asn) c.3400C>A (p.His1134Asn) c.3346C>A (p.His1116Asn) c.2746C>A (p.His916Asn) c.3694C>A (p.His1232Asn) c.3691C>A (p.His1231Asn) c.3610C>A (p.His1204Asn) c.3541C>A (p.His1181Asn) c.3409C>A (p.His1137Asn) c.3277C>A (p.His1093Asn) | |
20 | g.32436142C>G | CA408563048 | ASXL1 | c.3430C>G (p.His1144Asp) c.3247C>G (p.His1083Asp) n.5783C>G c.1869+1561C>G (n.1869+1561C>G) c.3415C>G (p.His1139Asp) c.3427C>G (p.His1143Asp) c.3400C>G (p.His1134Asp) c.3346C>G (p.His1116Asp) c.2746C>G (p.His916Asp) c.3694C>G (p.His1232Asp) c.3691C>G (p.His1231Asp) c.3610C>G (p.His1204Asp) c.3541C>G (p.His1181Asp) c.3409C>G (p.His1137Asp) c.3277C>G (p.His1093Asp) | |
20 | g.32436142C>T | CA408563047 | ASXL1 | c.3430C>T (p.His1144Tyr) c.3247C>T (p.His1083Tyr) n.5783C>T c.1869+1561C>T (n.1869+1561C>T) c.3415C>T (p.His1139Tyr) c.3427C>T (p.His1143Tyr) c.3400C>T (p.His1134Tyr) c.3346C>T (p.His1116Tyr) c.2746C>T (p.His916Tyr) c.3694C>T (p.His1232Tyr) c.3691C>T (p.His1231Tyr) c.3610C>T (p.His1204Tyr) c.3541C>T (p.His1181Tyr) c.3409C>T (p.His1137Tyr) c.3277C>T (p.His1093Tyr) | |
20 | g.32436147_32436160del | CA9808819 | ASXL1 | c.3435_3448del (p.Ser1146IlefsTer13) c.3252_3265del (p.Ser1085IlefsTer13) n.5788_5801del c.1869+1566_1869+1579del (n.1869+1566_1869+1579del) c.3420_3433del (p.Ser1141IlefsTer13) c.3432_3445del (p.Ser1145IlefsTer13) c.3405_3418del (p.Ser1136IlefsTer13) c.3351_3364del (p.Ser1118IlefsTer13) c.2751_2764del (p.Ser918IlefsTer13) c.3699_3712del (p.Ser1234IlefsTer13) c.3696_3709del (p.Ser1233IlefsTer13) c.3615_3628del (p.Ser1206IlefsTer13) c.3546_3559del (p.Ser1183IlefsTer13) c.3414_3427del (p.Ser1139IlefsTer13) c.3282_3295del (p.Ser1095IlefsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436143A= | CA2360293553 | ASXL1 | c.3431A= (p.His1144=) c.3248A= (p.His1083=) n.5784A= c.1869+1562A= (n.1869+1562A=) c.3416A= (p.His1139=) c.3428A= (p.His1143=) c.3401A= (p.His1134=) c.3347A= (p.His1116=) c.2747A= (p.His916=) c.3695A= (p.His1232=) c.3692A= (p.His1231=) c.3611A= (p.His1204=) c.3542A= (p.His1181=) c.3410A= (p.His1137=) c.3278A= (p.His1093=) | |
20 | g.32436143A>C | CA408563050 | ASXL1 | c.3431A>C (p.His1144Pro) c.3248A>C (p.His1083Pro) n.5784A>C c.1869+1562A>C (n.1869+1562A>C) c.3416A>C (p.His1139Pro) c.3428A>C (p.His1143Pro) c.3401A>C (p.His1134Pro) c.3347A>C (p.His1116Pro) c.2747A>C (p.His916Pro) c.3695A>C (p.His1232Pro) c.3692A>C (p.His1231Pro) c.3611A>C (p.His1204Pro) c.3542A>C (p.His1181Pro) c.3410A>C (p.His1137Pro) c.3278A>C (p.His1093Pro) | |
20 | g.32436143A>G | CA9808820 | ASXL1 | c.3431A>G (p.His1144Arg) c.3248A>G (p.His1083Arg) n.5784A>G c.1869+1562A>G (n.1869+1562A>G) c.3416A>G (p.His1139Arg) c.3428A>G (p.His1143Arg) c.3401A>G (p.His1134Arg) c.3347A>G (p.His1116Arg) c.2747A>G (p.His916Arg) c.3695A>G (p.His1232Arg) c.3692A>G (p.His1231Arg) c.3611A>G (p.His1204Arg) c.3542A>G (p.His1181Arg) c.3410A>G (p.His1137Arg) c.3278A>G (p.His1093Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436143A>T | CA408563051 | ASXL1 | c.3431A>T (p.His1144Leu) c.3248A>T (p.His1083Leu) n.5784A>T c.1869+1562A>T (n.1869+1562A>T) c.3416A>T (p.His1139Leu) c.3428A>T (p.His1143Leu) c.3401A>T (p.His1134Leu) c.3347A>T (p.His1116Leu) c.2747A>T (p.His916Leu) c.3695A>T (p.His1232Leu) c.3692A>T (p.His1231Leu) c.3611A>T (p.His1204Leu) c.3542A>T (p.His1181Leu) c.3410A>T (p.His1137Leu) c.3278A>T (p.His1093Leu) | |
20 | g.32436144T>A | CA408563052 | ASXL1 | c.3432T>A (p.His1144Gln) c.3249T>A (p.His1083Gln) n.5785T>A c.1869+1563T>A (n.1869+1563T>A) c.3417T>A (p.His1139Gln) c.3429T>A (p.His1143Gln) c.3402T>A (p.His1134Gln) c.3348T>A (p.His1116Gln) c.2748T>A (p.His916Gln) c.3696T>A (p.His1232Gln) c.3693T>A (p.His1231Gln) c.3612T>A (p.His1204Gln) c.3543T>A (p.His1181Gln) c.3411T>A (p.His1137Gln) c.3279T>A (p.His1093Gln) | |
20 | g.32436144T>C | CA510467243 | ASXL1 | c.3432T>C (p.His1144=) c.3249T>C (p.His1083=) n.5785T>C c.1869+1563T>C (n.1869+1563T>C) c.3417T>C (p.His1139=) c.3429T>C (p.His1143=) c.3402T>C (p.His1134=) c.3348T>C (p.His1116=) c.2748T>C (p.His916=) c.3696T>C (p.His1232=) c.3693T>C (p.His1231=) c.3612T>C (p.His1204=) c.3543T>C (p.His1181=) c.3411T>C (p.His1137=) c.3279T>C (p.His1093=) | |
20 | g.32436144T>G | CA408563053 | ASXL1 | c.3432T>G (p.His1144Gln) c.3249T>G (p.His1083Gln) n.5785T>G c.1869+1563T>G (n.1869+1563T>G) c.3417T>G (p.His1139Gln) c.3429T>G (p.His1143Gln) c.3402T>G (p.His1134Gln) c.3348T>G (p.His1116Gln) c.2748T>G (p.His916Gln) c.3696T>G (p.His1232Gln) c.3693T>G (p.His1231Gln) c.3612T>G (p.His1204Gln) c.3543T>G (p.His1181Gln) c.3411T>G (p.His1137Gln) c.3279T>G (p.His1093Gln) | |
20 | g.32436145G>A | CA408563054 | ASXL1 | c.3433G>A (p.Gly1145Ser) c.3250G>A (p.Gly1084Ser) n.5786G>A c.1869+1564G>A (n.1869+1564G>A) c.3418G>A (p.Gly1140Ser) c.3430G>A (p.Gly1144Ser) c.3403G>A (p.Gly1135Ser) c.3349G>A (p.Gly1117Ser) c.2749G>A (p.Gly917Ser) c.3697G>A (p.Gly1233Ser) c.3694G>A (p.Gly1232Ser) c.3613G>A (p.Gly1205Ser) c.3544G>A (p.Gly1182Ser) c.3412G>A (p.Gly1138Ser) c.3280G>A (p.Gly1094Ser) | |
20 | g.32436145G>C | CA408563055 | ASXL1 | c.3433G>C (p.Gly1145Arg) c.3250G>C (p.Gly1084Arg) n.5786G>C c.1869+1564G>C (n.1869+1564G>C) c.3418G>C (p.Gly1140Arg) c.3430G>C (p.Gly1144Arg) c.3403G>C (p.Gly1135Arg) c.3349G>C (p.Gly1117Arg) c.2749G>C (p.Gly917Arg) c.3697G>C (p.Gly1233Arg) c.3694G>C (p.Gly1232Arg) c.3613G>C (p.Gly1205Arg) c.3544G>C (p.Gly1182Arg) c.3412G>C (p.Gly1138Arg) c.3280G>C (p.Gly1094Arg) | |
20 | g.32436145G>T | CA408563056 | ASXL1 | c.3433G>T (p.Gly1145Cys) c.3250G>T (p.Gly1084Cys) n.5786G>T c.1869+1564G>T (n.1869+1564G>T) c.3418G>T (p.Gly1140Cys) c.3430G>T (p.Gly1144Cys) c.3403G>T (p.Gly1135Cys) c.3349G>T (p.Gly1117Cys) c.2749G>T (p.Gly917Cys) c.3697G>T (p.Gly1233Cys) c.3694G>T (p.Gly1232Cys) c.3613G>T (p.Gly1205Cys) c.3544G>T (p.Gly1182Cys) c.3412G>T (p.Gly1138Cys) c.3280G>T (p.Gly1094Cys) | |
20 | g.32436146G>A | CA9808821 | ASXL1 | c.3434G>A (p.Gly1145Asp) c.3251G>A (p.Gly1084Asp) n.5787G>A c.1869+1565G>A (n.1869+1565G>A) c.3419G>A (p.Gly1140Asp) c.3431G>A (p.Gly1144Asp) c.3404G>A (p.Gly1135Asp) c.3350G>A (p.Gly1117Asp) c.2750G>A (p.Gly917Asp) c.3698G>A (p.Gly1233Asp) c.3695G>A (p.Gly1232Asp) c.3614G>A (p.Gly1205Asp) c.3545G>A (p.Gly1182Asp) c.3413G>A (p.Gly1138Asp) c.3281G>A (p.Gly1094Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436146G>C | CA408563057 | ASXL1 | c.3434G>C (p.Gly1145Ala) c.3251G>C (p.Gly1084Ala) n.5787G>C c.1869+1565G>C (n.1869+1565G>C) c.3419G>C (p.Gly1140Ala) c.3431G>C (p.Gly1144Ala) c.3404G>C (p.Gly1135Ala) c.3350G>C (p.Gly1117Ala) c.2750G>C (p.Gly917Ala) c.3698G>C (p.Gly1233Ala) c.3695G>C (p.Gly1232Ala) c.3614G>C (p.Gly1205Ala) c.3545G>C (p.Gly1182Ala) c.3413G>C (p.Gly1138Ala) c.3281G>C (p.Gly1094Ala) | dbSNP |
20 | g.32436146G= | CA2360293554 | ASXL1 | c.3434G= (p.Gly1145=) c.3251G= (p.Gly1084=) n.5787G= c.1869+1565G= (n.1869+1565G=) c.3419G= (p.Gly1140=) c.3431G= (p.Gly1144=) c.3404G= (p.Gly1135=) c.3350G= (p.Gly1117=) c.2750G= (p.Gly917=) c.3698G= (p.Gly1233=) c.3695G= (p.Gly1232=) c.3614G= (p.Gly1205=) c.3545G= (p.Gly1182=) c.3413G= (p.Gly1138=) c.3281G= (p.Gly1094=) | |
20 | g.32436146G>T | CA408563058 | ASXL1 | c.3434G>T (p.Gly1145Val) c.3251G>T (p.Gly1084Val) n.5787G>T c.1869+1565G>T (n.1869+1565G>T) c.3419G>T (p.Gly1140Val) c.3431G>T (p.Gly1144Val) c.3404G>T (p.Gly1135Val) c.3350G>T (p.Gly1117Val) c.2750G>T (p.Gly917Val) c.3698G>T (p.Gly1233Val) c.3695G>T (p.Gly1232Val) c.3614G>T (p.Gly1205Val) c.3545G>T (p.Gly1182Val) c.3413G>T (p.Gly1138Val) c.3281G>T (p.Gly1094Val) | |
20 | g.32436147C>A | CA510467245 | ASXL1 | c.3435C>A (p.Gly1145=) c.3252C>A (p.Gly1084=) n.5788C>A c.1869+1566C>A (n.1869+1566C>A) c.3420C>A (p.Gly1140=) c.3432C>A (p.Gly1144=) c.3405C>A (p.Gly1135=) c.3351C>A (p.Gly1117=) c.2751C>A (p.Gly917=) c.3699C>A (p.Gly1233=) c.3696C>A (p.Gly1232=) c.3615C>A (p.Gly1205=) c.3546C>A (p.Gly1182=) c.3414C>A (p.Gly1138=) c.3282C>A (p.Gly1094=) | |
20 | g.32436147C= | CA2360293555 | ASXL1 | c.3435C= (p.Gly1145=) c.3252C= (p.Gly1084=) n.5788C= c.1869+1566C= (n.1869+1566C=) c.3420C= (p.Gly1140=) c.3432C= (p.Gly1144=) c.3405C= (p.Gly1135=) c.3351C= (p.Gly1117=) c.2751C= (p.Gly917=) c.3699C= (p.Gly1233=) c.3696C= (p.Gly1232=) c.3615C= (p.Gly1205=) c.3546C= (p.Gly1182=) c.3414C= (p.Gly1138=) c.3282C= (p.Gly1094=) | |
20 | g.32436147C>G | CA510467244 | ASXL1 | c.3435C>G (p.Gly1145=) c.3252C>G (p.Gly1084=) n.5788C>G c.1869+1566C>G (n.1869+1566C>G) c.3420C>G (p.Gly1140=) c.3432C>G (p.Gly1144=) c.3405C>G (p.Gly1135=) c.3351C>G (p.Gly1117=) c.2751C>G (p.Gly917=) c.3699C>G (p.Gly1233=) c.3696C>G (p.Gly1232=) c.3615C>G (p.Gly1205=) c.3546C>G (p.Gly1182=) c.3414C>G (p.Gly1138=) c.3282C>G (p.Gly1094=) | |
20 | g.32436147C>T | CA9808822 | ASXL1 | c.3435C>T (p.Gly1145=) c.3252C>T (p.Gly1084=) n.5788C>T c.1869+1566C>T (n.1869+1566C>T) c.3420C>T (p.Gly1140=) c.3432C>T (p.Gly1144=) c.3405C>T (p.Gly1135=) c.3351C>T (p.Gly1117=) c.2751C>T (p.Gly917=) c.3699C>T (p.Gly1233=) c.3696C>T (p.Gly1232=) c.3615C>T (p.Gly1205=) c.3546C>T (p.Gly1182=) c.3414C>T (p.Gly1138=) c.3282C>T (p.Gly1094=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436148T>A | CA408563061 | ASXL1 | c.3436T>A (p.Ser1146Thr) c.3253T>A (p.Ser1085Thr) n.5789T>A c.1869+1567T>A (n.1869+1567T>A) c.3421T>A (p.Ser1141Thr) c.3433T>A (p.Ser1145Thr) c.3406T>A (p.Ser1136Thr) c.3352T>A (p.Ser1118Thr) c.2752T>A (p.Ser918Thr) c.3700T>A (p.Ser1234Thr) c.3697T>A (p.Ser1233Thr) c.3616T>A (p.Ser1206Thr) c.3547T>A (p.Ser1183Thr) c.3415T>A (p.Ser1139Thr) c.3283T>A (p.Ser1095Thr) | dbSNP |
20 | g.32436148T>C | CA408563060 | ASXL1 | c.3436T>C (p.Ser1146Pro) c.3253T>C (p.Ser1085Pro) n.5789T>C c.1869+1567T>C (n.1869+1567T>C) c.3421T>C (p.Ser1141Pro) c.3433T>C (p.Ser1145Pro) c.3406T>C (p.Ser1136Pro) c.3352T>C (p.Ser1118Pro) c.2752T>C (p.Ser918Pro) c.3700T>C (p.Ser1234Pro) c.3697T>C (p.Ser1233Pro) c.3616T>C (p.Ser1206Pro) c.3547T>C (p.Ser1183Pro) c.3415T>C (p.Ser1139Pro) c.3283T>C (p.Ser1095Pro) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436148T>G | CA408563059 | ASXL1 | c.3436T>G (p.Ser1146Ala) c.3253T>G (p.Ser1085Ala) n.5789T>G c.1869+1567T>G (n.1869+1567T>G) c.3421T>G (p.Ser1141Ala) c.3433T>G (p.Ser1145Ala) c.3406T>G (p.Ser1136Ala) c.3352T>G (p.Ser1118Ala) c.2752T>G (p.Ser918Ala) c.3700T>G (p.Ser1234Ala) c.3697T>G (p.Ser1233Ala) c.3616T>G (p.Ser1206Ala) c.3547T>G (p.Ser1183Ala) c.3415T>G (p.Ser1139Ala) c.3283T>G (p.Ser1095Ala) | |
20 | g.32436148T= | CA2360293556 | ASXL1 | c.3436T= (p.Ser1146=) c.3253T= (p.Ser1085=) n.5789T= c.1869+1567T= (n.1869+1567T=) c.3421T= (p.Ser1141=) c.3433T= (p.Ser1145=) c.3406T= (p.Ser1136=) c.3352T= (p.Ser1118=) c.2752T= (p.Ser918=) c.3700T= (p.Ser1234=) c.3697T= (p.Ser1233=) c.3616T= (p.Ser1206=) c.3547T= (p.Ser1183=) c.3415T= (p.Ser1139=) c.3283T= (p.Ser1095=) | |
20 | g.32436149C>A | CA408563062 | ASXL1 | c.3437C>A (p.Ser1146Ter) c.3254C>A (p.Ser1085Ter) n.5790C>A c.1869+1568C>A (n.1869+1568C>A) c.3422C>A (p.Ser1141Ter) c.3434C>A (p.Ser1145Ter) c.3407C>A (p.Ser1136Ter) c.3353C>A (p.Ser1118Ter) c.2753C>A (p.Ser918Ter) c.3701C>A (p.Ser1234Ter) c.3698C>A (p.Ser1233Ter) c.3617C>A (p.Ser1206Ter) c.3548C>A (p.Ser1183Ter) c.3416C>A (p.Ser1139Ter) c.3284C>A (p.Ser1095Ter) | ClinVar dbSNP |
20 | g.32436149C= | CA2360293557 | ASXL1 | c.3437C= (p.Ser1146=) c.3254C= (p.Ser1085=) n.5790C= c.1869+1568C= (n.1869+1568C=) c.3422C= (p.Ser1141=) c.3434C= (p.Ser1145=) c.3407C= (p.Ser1136=) c.3353C= (p.Ser1118=) c.2753C= (p.Ser918=) c.3701C= (p.Ser1234=) c.3698C= (p.Ser1233=) c.3617C= (p.Ser1206=) c.3548C= (p.Ser1183=) c.3416C= (p.Ser1139=) c.3284C= (p.Ser1095=) | |
20 | g.32436149C>G | CA408563063 | ASXL1 | c.3437C>G (p.Ser1146Trp) c.3254C>G (p.Ser1085Trp) n.5790C>G c.1869+1568C>G (n.1869+1568C>G) c.3422C>G (p.Ser1141Trp) c.3434C>G (p.Ser1145Trp) c.3407C>G (p.Ser1136Trp) c.3353C>G (p.Ser1118Trp) c.2753C>G (p.Ser918Trp) c.3701C>G (p.Ser1234Trp) c.3698C>G (p.Ser1233Trp) c.3617C>G (p.Ser1206Trp) c.3548C>G (p.Ser1183Trp) c.3416C>G (p.Ser1139Trp) c.3284C>G (p.Ser1095Trp) | |
20 | g.32436149C>T | CA9808823 | ASXL1 | c.3437C>T (p.Ser1146Leu) c.3254C>T (p.Ser1085Leu) n.5790C>T c.1869+1568C>T (n.1869+1568C>T) c.3422C>T (p.Ser1141Leu) c.3434C>T (p.Ser1145Leu) c.3407C>T (p.Ser1136Leu) c.3353C>T (p.Ser1118Leu) c.2753C>T (p.Ser918Leu) c.3701C>T (p.Ser1234Leu) c.3698C>T (p.Ser1233Leu) c.3617C>T (p.Ser1206Leu) c.3548C>T (p.Ser1183Leu) c.3416C>T (p.Ser1139Leu) c.3284C>T (p.Ser1095Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436149dup | CA2652401206 | ASXL1 | c.3437dup (p.Leu1147AlafsTer17) c.3254dup (p.Leu1086AlafsTer17) n.5790dup c.1869+1568dup (n.1869+1568dup) c.3422dup (p.Leu1142AlafsTer17) c.3434dup (p.Leu1146AlafsTer17) c.3407dup (p.Leu1137AlafsTer17) c.3353dup (p.Leu1119AlafsTer17) c.2753dup (p.Leu919AlafsTer17) c.3701dup (p.Leu1235AlafsTer17) c.3698dup (p.Leu1234AlafsTer17) c.3617dup (p.Leu1207AlafsTer17) c.3548dup (p.Leu1184AlafsTer17) c.3416dup (p.Leu1140AlafsTer17) c.3284dup (p.Leu1096AlafsTer17) | gnomAD v4 |
20 | g.32436150G>A | CA9808824 | ASXL1 | c.3438G>A (p.Ser1146=) c.3255G>A (p.Ser1085=) n.5791G>A c.1869+1569G>A (n.1869+1569G>A) c.3423G>A (p.Ser1141=) c.3435G>A (p.Ser1145=) c.3408G>A (p.Ser1136=) c.3354G>A (p.Ser1118=) c.2754G>A (p.Ser918=) c.3702G>A (p.Ser1234=) c.3699G>A (p.Ser1233=) c.3618G>A (p.Ser1206=) c.3549G>A (p.Ser1183=) c.3417G>A (p.Ser1139=) c.3285G>A (p.Ser1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436150G>C | CA510467246 | ASXL1 | c.3438G>C (p.Ser1146=) c.3255G>C (p.Ser1085=) n.5791G>C c.1869+1569G>C (n.1869+1569G>C) c.3423G>C (p.Ser1141=) c.3435G>C (p.Ser1145=) c.3408G>C (p.Ser1136=) c.3354G>C (p.Ser1118=) c.2754G>C (p.Ser918=) c.3702G>C (p.Ser1234=) c.3699G>C (p.Ser1233=) c.3618G>C (p.Ser1206=) c.3549G>C (p.Ser1183=) c.3417G>C (p.Ser1139=) c.3285G>C (p.Ser1095=) | |
20 | g.32436150G= | CA2360293558 | ASXL1 | c.3438G= (p.Ser1146=) c.3255G= (p.Ser1085=) n.5791G= c.1869+1569G= (n.1869+1569G=) c.3423G= (p.Ser1141=) c.3435G= (p.Ser1145=) c.3408G= (p.Ser1136=) c.3354G= (p.Ser1118=) c.2754G= (p.Ser918=) c.3702G= (p.Ser1234=) c.3699G= (p.Ser1233=) c.3618G= (p.Ser1206=) c.3549G= (p.Ser1183=) c.3417G= (p.Ser1139=) c.3285G= (p.Ser1095=) | |
20 | g.32436150G>T | CA510467247 | ASXL1 | c.3438G>T (p.Ser1146=) c.3255G>T (p.Ser1085=) n.5791G>T c.1869+1569G>T (n.1869+1569G>T) c.3423G>T (p.Ser1141=) c.3435G>T (p.Ser1145=) c.3408G>T (p.Ser1136=) c.3354G>T (p.Ser1118=) c.2754G>T (p.Ser918=) c.3702G>T (p.Ser1234=) c.3699G>T (p.Ser1233=) c.3618G>T (p.Ser1206=) c.3549G>T (p.Ser1183=) c.3417G>T (p.Ser1139=) c.3285G>T (p.Ser1095=) | gnomAD v4 |
20 | g.32436151C>A | CA408563064 | ASXL1 | c.3439C>A (p.Leu1147Ile) c.3256C>A (p.Leu1086Ile) n.5792C>A c.1869+1570C>A (n.1869+1570C>A) c.3424C>A (p.Leu1142Ile) c.3436C>A (p.Leu1146Ile) c.3409C>A (p.Leu1137Ile) c.3355C>A (p.Leu1119Ile) c.2755C>A (p.Leu919Ile) c.3703C>A (p.Leu1235Ile) c.3700C>A (p.Leu1234Ile) c.3619C>A (p.Leu1207Ile) c.3550C>A (p.Leu1184Ile) c.3418C>A (p.Leu1140Ile) c.3286C>A (p.Leu1096Ile) | |
20 | g.32436151C>G | CA408563065 | ASXL1 | c.3439C>G (p.Leu1147Val) c.3256C>G (p.Leu1086Val) n.5792C>G c.1869+1570C>G (n.1869+1570C>G) c.3424C>G (p.Leu1142Val) c.3436C>G (p.Leu1146Val) c.3409C>G (p.Leu1137Val) c.3355C>G (p.Leu1119Val) c.2755C>G (p.Leu919Val) c.3703C>G (p.Leu1235Val) c.3700C>G (p.Leu1234Val) c.3619C>G (p.Leu1207Val) c.3550C>G (p.Leu1184Val) c.3418C>G (p.Leu1140Val) c.3286C>G (p.Leu1096Val) | gnomAD v4 |
20 | g.32436151C>T | CA510467248 | ASXL1 | c.3439C>T (p.Leu1147=) c.3256C>T (p.Leu1086=) n.5792C>T c.1869+1570C>T (n.1869+1570C>T) c.3424C>T (p.Leu1142=) c.3436C>T (p.Leu1146=) c.3409C>T (p.Leu1137=) c.3355C>T (p.Leu1119=) c.2755C>T (p.Leu919=) c.3703C>T (p.Leu1235=) c.3700C>T (p.Leu1234=) c.3619C>T (p.Leu1207=) c.3550C>T (p.Leu1184=) c.3418C>T (p.Leu1140=) c.3286C>T (p.Leu1096=) | |
20 | g.32436152T>A | CA408563066 | ASXL1 | c.3440T>A (p.Leu1147Gln) c.3257T>A (p.Leu1086Gln) n.5793T>A c.1869+1571T>A (n.1869+1571T>A) c.3425T>A (p.Leu1142Gln) c.3437T>A (p.Leu1146Gln) c.3410T>A (p.Leu1137Gln) c.3356T>A (p.Leu1119Gln) c.2756T>A (p.Leu919Gln) c.3704T>A (p.Leu1235Gln) c.3701T>A (p.Leu1234Gln) c.3620T>A (p.Leu1207Gln) c.3551T>A (p.Leu1184Gln) c.3419T>A (p.Leu1140Gln) c.3287T>A (p.Leu1096Gln) | |
20 | g.32436152T>C | CA408563067 | ASXL1 | c.3440T>C (p.Leu1147Pro) c.3257T>C (p.Leu1086Pro) n.5793T>C c.1869+1571T>C (n.1869+1571T>C) c.3425T>C (p.Leu1142Pro) c.3437T>C (p.Leu1146Pro) c.3410T>C (p.Leu1137Pro) c.3356T>C (p.Leu1119Pro) c.2756T>C (p.Leu919Pro) c.3704T>C (p.Leu1235Pro) c.3701T>C (p.Leu1234Pro) c.3620T>C (p.Leu1207Pro) c.3551T>C (p.Leu1184Pro) c.3419T>C (p.Leu1140Pro) c.3287T>C (p.Leu1096Pro) | |
20 | g.32436152T>G | CA408563068 | ASXL1 | c.3440T>G (p.Leu1147Arg) c.3257T>G (p.Leu1086Arg) n.5793T>G c.1869+1571T>G (n.1869+1571T>G) c.3425T>G (p.Leu1142Arg) c.3437T>G (p.Leu1146Arg) c.3410T>G (p.Leu1137Arg) c.3356T>G (p.Leu1119Arg) c.2756T>G (p.Leu919Arg) c.3704T>G (p.Leu1235Arg) c.3701T>G (p.Leu1234Arg) c.3620T>G (p.Leu1207Arg) c.3551T>G (p.Leu1184Arg) c.3419T>G (p.Leu1140Arg) c.3287T>G (p.Leu1096Arg) | |
20 | g.32436153A>C | CA510467249 | ASXL1 | c.3441A>C (p.Leu1147=) c.3258A>C (p.Leu1086=) n.5794A>C c.1869+1572A>C (n.1869+1572A>C) c.3426A>C (p.Leu1142=) c.3438A>C (p.Leu1146=) c.3411A>C (p.Leu1137=) c.3357A>C (p.Leu1119=) c.2757A>C (p.Leu919=) c.3705A>C (p.Leu1235=) c.3702A>C (p.Leu1234=) c.3621A>C (p.Leu1207=) c.3552A>C (p.Leu1184=) c.3420A>C (p.Leu1140=) c.3288A>C (p.Leu1096=) | |
20 | g.32436153A>G | CA510467251 | ASXL1 | c.3441A>G (p.Leu1147=) c.3258A>G (p.Leu1086=) n.5794A>G c.1869+1572A>G (n.1869+1572A>G) c.3426A>G (p.Leu1142=) c.3438A>G (p.Leu1146=) c.3411A>G (p.Leu1137=) c.3357A>G (p.Leu1119=) c.2757A>G (p.Leu919=) c.3705A>G (p.Leu1235=) c.3702A>G (p.Leu1234=) c.3621A>G (p.Leu1207=) c.3552A>G (p.Leu1184=) c.3420A>G (p.Leu1140=) c.3288A>G (p.Leu1096=) | dbSNP |
20 | g.32436153A>T | CA510467250 | ASXL1 | c.3441A>T (p.Leu1147=) c.3258A>T (p.Leu1086=) n.5794A>T c.1869+1572A>T (n.1869+1572A>T) c.3426A>T (p.Leu1142=) c.3438A>T (p.Leu1146=) c.3411A>T (p.Leu1137=) c.3357A>T (p.Leu1119=) c.2757A>T (p.Leu919=) c.3705A>T (p.Leu1235=) c.3702A>T (p.Leu1234=) c.3621A>T (p.Leu1207=) c.3552A>T (p.Leu1184=) c.3420A>T (p.Leu1140=) c.3288A>T (p.Leu1096=) | dbSNP gnomAD v4 |
20 | g.32436154C>A | CA408563070 | ASXL1 | c.3442C>A (p.Arg1148Ser) c.3259C>A (p.Arg1087Ser) n.5795C>A c.1869+1573C>A (n.1869+1573C>A) c.3427C>A (p.Arg1143Ser) c.3439C>A (p.Arg1147Ser) c.3412C>A (p.Arg1138Ser) c.3358C>A (p.Arg1120Ser) c.2758C>A (p.Arg920Ser) c.3706C>A (p.Arg1236Ser) c.3703C>A (p.Arg1235Ser) c.3622C>A (p.Arg1208Ser) c.3553C>A (p.Arg1185Ser) c.3421C>A (p.Arg1141Ser) c.3289C>A (p.Arg1097Ser) | |
20 | g.32436154C= | CA2360293559 | ASXL1 | c.3442C= (p.Arg1148=) c.3259C= (p.Arg1087=) n.5795C= c.1869+1573C= (n.1869+1573C=) c.3427C= (p.Arg1143=) c.3439C= (p.Arg1147=) c.3412C= (p.Arg1138=) c.3358C= (p.Arg1120=) c.2758C= (p.Arg920=) c.3706C= (p.Arg1236=) c.3703C= (p.Arg1235=) c.3622C= (p.Arg1208=) c.3553C= (p.Arg1185=) c.3421C= (p.Arg1141=) c.3289C= (p.Arg1097=) | |
20 | g.32436154C>G | CA408563069 | ASXL1 | c.3442C>G (p.Arg1148Gly) c.3259C>G (p.Arg1087Gly) n.5795C>G c.1869+1573C>G (n.1869+1573C>G) c.3427C>G (p.Arg1143Gly) c.3439C>G (p.Arg1147Gly) c.3412C>G (p.Arg1138Gly) c.3358C>G (p.Arg1120Gly) c.2758C>G (p.Arg920Gly) c.3706C>G (p.Arg1236Gly) c.3703C>G (p.Arg1235Gly) c.3622C>G (p.Arg1208Gly) c.3553C>G (p.Arg1185Gly) c.3421C>G (p.Arg1141Gly) c.3289C>G (p.Arg1097Gly) | |
20 | g.32436154C>T | CA157002 | ASXL1 | c.3442C>T (p.Arg1148Cys) c.3259C>T (p.Arg1087Cys) n.5795C>T c.1869+1573C>T (n.1869+1573C>T) c.3427C>T (p.Arg1143Cys) c.3439C>T (p.Arg1147Cys) c.3412C>T (p.Arg1138Cys) c.3358C>T (p.Arg1120Cys) c.2758C>T (p.Arg920Cys) c.3706C>T (p.Arg1236Cys) c.3703C>T (p.Arg1235Cys) c.3622C>T (p.Arg1208Cys) c.3553C>T (p.Arg1185Cys) c.3421C>T (p.Arg1141Cys) c.3289C>T (p.Arg1097Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436155G>A | CA9808825 | ASXL1 | c.3443G>A (p.Arg1148His) c.3260G>A (p.Arg1087His) n.5796G>A c.1869+1574G>A (n.1869+1574G>A) c.3428G>A (p.Arg1143His) c.3440G>A (p.Arg1147His) c.3413G>A (p.Arg1138His) c.3359G>A (p.Arg1120His) c.2759G>A (p.Arg920His) c.3707G>A (p.Arg1236His) c.3704G>A (p.Arg1235His) c.3623G>A (p.Arg1208His) c.3554G>A (p.Arg1185His) c.3422G>A (p.Arg1141His) c.3290G>A (p.Arg1097His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436155G>C | CA408563071 | ASXL1 | c.3443G>C (p.Arg1148Pro) c.3260G>C (p.Arg1087Pro) n.5796G>C c.1869+1574G>C (n.1869+1574G>C) c.3428G>C (p.Arg1143Pro) c.3440G>C (p.Arg1147Pro) c.3413G>C (p.Arg1138Pro) c.3359G>C (p.Arg1120Pro) c.2759G>C (p.Arg920Pro) c.3707G>C (p.Arg1236Pro) c.3704G>C (p.Arg1235Pro) c.3623G>C (p.Arg1208Pro) c.3554G>C (p.Arg1185Pro) c.3422G>C (p.Arg1141Pro) c.3290G>C (p.Arg1097Pro) | |
20 | g.32436155G= | CA2360293560 | ASXL1 | c.3443G= (p.Arg1148=) c.3260G= (p.Arg1087=) n.5796G= c.1869+1574G= (n.1869+1574G=) c.3428G= (p.Arg1143=) c.3440G= (p.Arg1147=) c.3413G= (p.Arg1138=) c.3359G= (p.Arg1120=) c.2759G= (p.Arg920=) c.3707G= (p.Arg1236=) c.3704G= (p.Arg1235=) c.3623G= (p.Arg1208=) c.3554G= (p.Arg1185=) c.3422G= (p.Arg1141=) c.3290G= (p.Arg1097=) | |
20 | g.32436155G>T | CA408563072 | ASXL1 | c.3443G>T (p.Arg1148Leu) c.3260G>T (p.Arg1087Leu) n.5796G>T c.1869+1574G>T (n.1869+1574G>T) c.3428G>T (p.Arg1143Leu) c.3440G>T (p.Arg1147Leu) c.3413G>T (p.Arg1138Leu) c.3359G>T (p.Arg1120Leu) c.2759G>T (p.Arg920Leu) c.3707G>T (p.Arg1236Leu) c.3704G>T (p.Arg1235Leu) c.3623G>T (p.Arg1208Leu) c.3554G>T (p.Arg1185Leu) c.3422G>T (p.Arg1141Leu) c.3290G>T (p.Arg1097Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436155dup | CA635268570 | ASXL1 | c.3443dup (p.Met1149HisfsTer15) c.3260dup (p.Met1088HisfsTer15) n.5796dup c.1869+1574dup (n.1869+1574dup) c.3428dup (p.Met1144HisfsTer15) c.3440dup (p.Met1148HisfsTer15) c.3413dup (p.Met1139HisfsTer15) c.3359dup (p.Met1121HisfsTer15) c.2759dup (p.Met921HisfsTer15) c.3707dup (p.Met1237HisfsTer15) c.3704dup (p.Met1236HisfsTer15) c.3623dup (p.Met1209HisfsTer15) c.3554dup (p.Met1186HisfsTer15) c.3422dup (p.Met1142HisfsTer15) c.3290dup (p.Met1098HisfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436156C>A | CA510467252 | ASXL1 | c.3444C>A (p.Arg1148=) c.3261C>A (p.Arg1087=) n.5797C>A c.1869+1575C>A (n.1869+1575C>A) c.3429C>A (p.Arg1143=) c.3441C>A (p.Arg1147=) c.3414C>A (p.Arg1138=) c.3360C>A (p.Arg1120=) c.2760C>A (p.Arg920=) c.3708C>A (p.Arg1236=) c.3705C>A (p.Arg1235=) c.3624C>A (p.Arg1208=) c.3555C>A (p.Arg1185=) c.3423C>A (p.Arg1141=) c.3291C>A (p.Arg1097=) | |
20 | g.32436156C>G | CA510467253 | ASXL1 | c.3444C>G (p.Arg1148=) c.3261C>G (p.Arg1087=) n.5797C>G c.1869+1575C>G (n.1869+1575C>G) c.3429C>G (p.Arg1143=) c.3441C>G (p.Arg1147=) c.3414C>G (p.Arg1138=) c.3360C>G (p.Arg1120=) c.2760C>G (p.Arg920=) c.3708C>G (p.Arg1236=) c.3705C>G (p.Arg1235=) c.3624C>G (p.Arg1208=) c.3555C>G (p.Arg1185=) c.3423C>G (p.Arg1141=) c.3291C>G (p.Arg1097=) | dbSNP |
20 | g.32436156C>T | CA510467254 | ASXL1 | c.3444C>T (p.Arg1148=) c.3261C>T (p.Arg1087=) n.5797C>T c.1869+1575C>T (n.1869+1575C>T) c.3429C>T (p.Arg1143=) c.3441C>T (p.Arg1147=) c.3414C>T (p.Arg1138=) c.3360C>T (p.Arg1120=) c.2760C>T (p.Arg920=) c.3708C>T (p.Arg1236=) c.3705C>T (p.Arg1235=) c.3624C>T (p.Arg1208=) c.3555C>T (p.Arg1185=) c.3423C>T (p.Arg1141=) c.3291C>T (p.Arg1097=) | |
20 | g.32436157A= | CA2360293561 | ASXL1 | c.3445A= (p.Met1149=) c.3262A= (p.Met1088=) n.5798A= c.1869+1576A= (n.1869+1576A=) c.3430A= (p.Met1144=) c.3442A= (p.Met1148=) c.3415A= (p.Met1139=) c.3361A= (p.Met1121=) c.2761A= (p.Met921=) c.3709A= (p.Met1237=) c.3706A= (p.Met1236=) c.3625A= (p.Met1209=) c.3556A= (p.Met1186=) c.3424A= (p.Met1142=) c.3292A= (p.Met1098=) | |
20 | g.32436157A>C | CA408563073 | ASXL1 | c.3445A>C (p.Met1149Leu) c.3262A>C (p.Met1088Leu) n.5798A>C c.1869+1576A>C (n.1869+1576A>C) c.3430A>C (p.Met1144Leu) c.3442A>C (p.Met1148Leu) c.3415A>C (p.Met1139Leu) c.3361A>C (p.Met1121Leu) c.2761A>C (p.Met921Leu) c.3709A>C (p.Met1237Leu) c.3706A>C (p.Met1236Leu) c.3625A>C (p.Met1209Leu) c.3556A>C (p.Met1186Leu) c.3424A>C (p.Met1142Leu) c.3292A>C (p.Met1098Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436157A>G | CA408563074 | ASXL1 | c.3445A>G (p.Met1149Val) c.3262A>G (p.Met1088Val) n.5798A>G c.1869+1576A>G (n.1869+1576A>G) c.3430A>G (p.Met1144Val) c.3442A>G (p.Met1148Val) c.3415A>G (p.Met1139Val) c.3361A>G (p.Met1121Val) c.2761A>G (p.Met921Val) c.3709A>G (p.Met1237Val) c.3706A>G (p.Met1236Val) c.3625A>G (p.Met1209Val) c.3556A>G (p.Met1186Val) c.3424A>G (p.Met1142Val) c.3292A>G (p.Met1098Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436157A>T | CA408563075 | ASXL1 | c.3445A>T (p.Met1149Leu) c.3262A>T (p.Met1088Leu) n.5798A>T c.1869+1576A>T (n.1869+1576A>T) c.3430A>T (p.Met1144Leu) c.3442A>T (p.Met1148Leu) c.3415A>T (p.Met1139Leu) c.3361A>T (p.Met1121Leu) c.2761A>T (p.Met921Leu) c.3709A>T (p.Met1237Leu) c.3706A>T (p.Met1236Leu) c.3625A>T (p.Met1209Leu) c.3556A>T (p.Met1186Leu) c.3424A>T (p.Met1142Leu) c.3292A>T (p.Met1098Leu) | |
20 | g.32436158T>A | CA408563076 | ASXL1 | c.3446T>A (p.Met1149Lys) c.3263T>A (p.Met1088Lys) n.5799T>A c.1869+1577T>A (n.1869+1577T>A) c.3431T>A (p.Met1144Lys) c.3443T>A (p.Met1148Lys) c.3416T>A (p.Met1139Lys) c.3362T>A (p.Met1121Lys) c.2762T>A (p.Met921Lys) c.3710T>A (p.Met1237Lys) c.3707T>A (p.Met1236Lys) c.3626T>A (p.Met1209Lys) c.3557T>A (p.Met1186Lys) c.3425T>A (p.Met1142Lys) c.3293T>A (p.Met1098Lys) | |
20 | g.32436158T>C | CA9808826 | ASXL1 | c.3446T>C (p.Met1149Thr) c.3263T>C (p.Met1088Thr) n.5799T>C c.1869+1577T>C (n.1869+1577T>C) c.3431T>C (p.Met1144Thr) c.3443T>C (p.Met1148Thr) c.3416T>C (p.Met1139Thr) c.3362T>C (p.Met1121Thr) c.2762T>C (p.Met921Thr) c.3710T>C (p.Met1237Thr) c.3707T>C (p.Met1236Thr) c.3626T>C (p.Met1209Thr) c.3557T>C (p.Met1186Thr) c.3425T>C (p.Met1142Thr) c.3293T>C (p.Met1098Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436158T>G | CA408563077 | ASXL1 | c.3446T>G (p.Met1149Arg) c.3263T>G (p.Met1088Arg) n.5799T>G c.1869+1577T>G (n.1869+1577T>G) c.3431T>G (p.Met1144Arg) c.3443T>G (p.Met1148Arg) c.3416T>G (p.Met1139Arg) c.3362T>G (p.Met1121Arg) c.2762T>G (p.Met921Arg) c.3710T>G (p.Met1237Arg) c.3707T>G (p.Met1236Arg) c.3626T>G (p.Met1209Arg) c.3557T>G (p.Met1186Arg) c.3425T>G (p.Met1142Arg) c.3293T>G (p.Met1098Arg) | |
20 | g.32436158T= | CA2360293562 | ASXL1 | c.3446T= (p.Met1149=) c.3263T= (p.Met1088=) n.5799T= c.1869+1577T= (n.1869+1577T=) c.3431T= (p.Met1144=) c.3443T= (p.Met1148=) c.3416T= (p.Met1139=) c.3362T= (p.Met1121=) c.2762T= (p.Met921=) c.3710T= (p.Met1237=) c.3707T= (p.Met1236=) c.3626T= (p.Met1209=) c.3557T= (p.Met1186=) c.3425T= (p.Met1142=) c.3293T= (p.Met1098=) | |
20 | g.32436159G>A | CA408563078 | ASXL1 | c.3447G>A (p.Met1149Ile) c.3264G>A (p.Met1088Ile) n.5800G>A c.1869+1578G>A (n.1869+1578G>A) c.3432G>A (p.Met1144Ile) c.3444G>A (p.Met1148Ile) c.3417G>A (p.Met1139Ile) c.3363G>A (p.Met1121Ile) c.2763G>A (p.Met921Ile) c.3711G>A (p.Met1237Ile) c.3708G>A (p.Met1236Ile) c.3627G>A (p.Met1209Ile) c.3558G>A (p.Met1186Ile) c.3426G>A (p.Met1142Ile) c.3294G>A (p.Met1098Ile) | |
20 | g.32436159G>C | CA408563079 | ASXL1 | c.3447G>C (p.Met1149Ile) c.3264G>C (p.Met1088Ile) n.5800G>C c.1869+1578G>C (n.1869+1578G>C) c.3432G>C (p.Met1144Ile) c.3444G>C (p.Met1148Ile) c.3417G>C (p.Met1139Ile) c.3363G>C (p.Met1121Ile) c.2763G>C (p.Met921Ile) c.3711G>C (p.Met1237Ile) c.3708G>C (p.Met1236Ile) c.3627G>C (p.Met1209Ile) c.3558G>C (p.Met1186Ile) c.3426G>C (p.Met1142Ile) c.3294G>C (p.Met1098Ile) | |
20 | g.32436159G= | CA2360293563 | ASXL1 | c.3447G= (p.Met1149=) c.3264G= (p.Met1088=) n.5800G= c.1869+1578G= (n.1869+1578G=) c.3432G= (p.Met1144=) c.3444G= (p.Met1148=) c.3417G= (p.Met1139=) c.3363G= (p.Met1121=) c.2763G= (p.Met921=) c.3711G= (p.Met1237=) c.3708G= (p.Met1236=) c.3627G= (p.Met1209=) c.3558G= (p.Met1186=) c.3426G= (p.Met1142=) c.3294G= (p.Met1098=) | |
20 | g.32436159G>T | CA9808827 | ASXL1 | c.3447G>T (p.Met1149Ile) c.3264G>T (p.Met1088Ile) n.5800G>T c.1869+1578G>T (n.1869+1578G>T) c.3432G>T (p.Met1144Ile) c.3444G>T (p.Met1148Ile) c.3417G>T (p.Met1139Ile) c.3363G>T (p.Met1121Ile) c.2763G>T (p.Met921Ile) c.3711G>T (p.Met1237Ile) c.3708G>T (p.Met1236Ile) c.3627G>T (p.Met1209Ile) c.3558G>T (p.Met1186Ile) c.3426G>T (p.Met1142Ile) c.3294G>T (p.Met1098Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436160G>A | CA408563080 | ASXL1 | c.3448G>A (p.Gly1150Arg) c.3265G>A (p.Gly1089Arg) n.5801G>A c.1869+1579G>A (n.1869+1579G>A) c.3433G>A (p.Gly1145Arg) c.3445G>A (p.Gly1149Arg) c.3418G>A (p.Gly1140Arg) c.3364G>A (p.Gly1122Arg) c.2764G>A (p.Gly922Arg) c.3712G>A (p.Gly1238Arg) c.3709G>A (p.Gly1237Arg) c.3628G>A (p.Gly1210Arg) c.3559G>A (p.Gly1187Arg) c.3427G>A (p.Gly1143Arg) c.3295G>A (p.Gly1099Arg) | |
20 | g.32436160G>C | CA9808828 | ASXL1 | c.3448G>C (p.Gly1150Arg) c.3265G>C (p.Gly1089Arg) n.5801G>C c.1869+1579G>C (n.1869+1579G>C) c.3433G>C (p.Gly1145Arg) c.3445G>C (p.Gly1149Arg) c.3418G>C (p.Gly1140Arg) c.3364G>C (p.Gly1122Arg) c.2764G>C (p.Gly922Arg) c.3712G>C (p.Gly1238Arg) c.3709G>C (p.Gly1237Arg) c.3628G>C (p.Gly1210Arg) c.3559G>C (p.Gly1187Arg) c.3427G>C (p.Gly1143Arg) c.3295G>C (p.Gly1099Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436160G= | CA2360293564 | ASXL1 | c.3448G= (p.Gly1150=) c.3265G= (p.Gly1089=) n.5801G= c.1869+1579G= (n.1869+1579G=) c.3433G= (p.Gly1145=) c.3445G= (p.Gly1149=) c.3418G= (p.Gly1140=) c.3364G= (p.Gly1122=) c.2764G= (p.Gly922=) c.3712G= (p.Gly1238=) c.3709G= (p.Gly1237=) c.3628G= (p.Gly1210=) c.3559G= (p.Gly1187=) c.3427G= (p.Gly1143=) c.3295G= (p.Gly1099=) | |
20 | g.32436160G>T | CA408563081 | ASXL1 | c.3448G>T (p.Gly1150Ter) c.3265G>T (p.Gly1089Ter) n.5801G>T c.1869+1579G>T (n.1869+1579G>T) c.3433G>T (p.Gly1145Ter) c.3445G>T (p.Gly1149Ter) c.3418G>T (p.Gly1140Ter) c.3364G>T (p.Gly1122Ter) c.2764G>T (p.Gly922Ter) c.3712G>T (p.Gly1238Ter) c.3709G>T (p.Gly1237Ter) c.3628G>T (p.Gly1210Ter) c.3559G>T (p.Gly1187Ter) c.3427G>T (p.Gly1143Ter) c.3295G>T (p.Gly1099Ter) | |
20 | g.32436161G>A | CA408563082 | ASXL1 | c.3449G>A (p.Gly1150Glu) c.3266G>A (p.Gly1089Glu) n.5802G>A c.1869+1580G>A (n.1869+1580G>A) c.3434G>A (p.Gly1145Glu) c.3446G>A (p.Gly1149Glu) c.3419G>A (p.Gly1140Glu) c.3365G>A (p.Gly1122Glu) c.2765G>A (p.Gly922Glu) c.3713G>A (p.Gly1238Glu) c.3710G>A (p.Gly1237Glu) c.3629G>A (p.Gly1210Glu) c.3560G>A (p.Gly1187Glu) c.3428G>A (p.Gly1143Glu) c.3296G>A (p.Gly1099Glu) | dbSNP gnomAD v4 |
20 | g.32436161G>C | CA408563083 | ASXL1 | c.3449G>C (p.Gly1150Ala) c.3266G>C (p.Gly1089Ala) n.5802G>C c.1869+1580G>C (n.1869+1580G>C) c.3434G>C (p.Gly1145Ala) c.3446G>C (p.Gly1149Ala) c.3419G>C (p.Gly1140Ala) c.3365G>C (p.Gly1122Ala) c.2765G>C (p.Gly922Ala) c.3713G>C (p.Gly1238Ala) c.3710G>C (p.Gly1237Ala) c.3629G>C (p.Gly1210Ala) c.3560G>C (p.Gly1187Ala) c.3428G>C (p.Gly1143Ala) c.3296G>C (p.Gly1099Ala) | dbSNP |
20 | g.32436161G= | CA2360293565 | ASXL1 | c.3449G= (p.Gly1150=) c.3266G= (p.Gly1089=) n.5802G= c.1869+1580G= (n.1869+1580G=) c.3434G= (p.Gly1145=) c.3446G= (p.Gly1149=) c.3419G= (p.Gly1140=) c.3365G= (p.Gly1122=) c.2765G= (p.Gly922=) c.3713G= (p.Gly1238=) c.3710G= (p.Gly1237=) c.3629G= (p.Gly1210=) c.3560G= (p.Gly1187=) c.3428G= (p.Gly1143=) c.3296G= (p.Gly1099=) | |
20 | g.32436161G>T | CA9808829 | ASXL1 | c.3449G>T (p.Gly1150Val) c.3266G>T (p.Gly1089Val) n.5802G>T c.1869+1580G>T (n.1869+1580G>T) c.3434G>T (p.Gly1145Val) c.3446G>T (p.Gly1149Val) c.3419G>T (p.Gly1140Val) c.3365G>T (p.Gly1122Val) c.2765G>T (p.Gly922Val) c.3713G>T (p.Gly1238Val) c.3710G>T (p.Gly1237Val) c.3629G>T (p.Gly1210Val) c.3560G>T (p.Gly1187Val) c.3428G>T (p.Gly1143Val) c.3296G>T (p.Gly1099Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436162A>C | CA510467255 | ASXL1 | c.3450A>C (p.Gly1150=) c.3267A>C (p.Gly1089=) n.5803A>C c.1869+1581A>C (n.1869+1581A>C) c.3435A>C (p.Gly1145=) c.3447A>C (p.Gly1149=) c.3420A>C (p.Gly1140=) c.3366A>C (p.Gly1122=) c.2766A>C (p.Gly922=) c.3714A>C (p.Gly1238=) c.3711A>C (p.Gly1237=) c.3630A>C (p.Gly1210=) c.3561A>C (p.Gly1187=) c.3429A>C (p.Gly1143=) c.3297A>C (p.Gly1099=) | |
20 | g.32436162A>G | CA510467256 | ASXL1 | c.3450A>G (p.Gly1150=) c.3267A>G (p.Gly1089=) n.5803A>G c.1869+1581A>G (n.1869+1581A>G) c.3435A>G (p.Gly1145=) c.3447A>G (p.Gly1149=) c.3420A>G (p.Gly1140=) c.3366A>G (p.Gly1122=) c.2766A>G (p.Gly922=) c.3714A>G (p.Gly1238=) c.3711A>G (p.Gly1237=) c.3630A>G (p.Gly1210=) c.3561A>G (p.Gly1187=) c.3429A>G (p.Gly1143=) c.3297A>G (p.Gly1099=) | |
20 | g.32436162A>T | CA510467257 | ASXL1 | c.3450A>T (p.Gly1150=) c.3267A>T (p.Gly1089=) n.5803A>T c.1869+1581A>T (n.1869+1581A>T) c.3435A>T (p.Gly1145=) c.3447A>T (p.Gly1149=) c.3420A>T (p.Gly1140=) c.3366A>T (p.Gly1122=) c.2766A>T (p.Gly922=) c.3714A>T (p.Gly1238=) c.3711A>T (p.Gly1237=) c.3630A>T (p.Gly1210=) c.3561A>T (p.Gly1187=) c.3429A>T (p.Gly1143=) c.3297A>T (p.Gly1099=) | ClinVar |
20 | g.32436163T>A | CA408563084 | ASXL1 | c.3451T>A (p.Ser1151Thr) c.3268T>A (p.Ser1090Thr) n.5804T>A c.1869+1582T>A (n.1869+1582T>A) c.3436T>A (p.Ser1146Thr) c.3448T>A (p.Ser1150Thr) c.3421T>A (p.Ser1141Thr) c.3367T>A (p.Ser1123Thr) c.2767T>A (p.Ser923Thr) c.3715T>A (p.Ser1239Thr) c.3712T>A (p.Ser1238Thr) c.3631T>A (p.Ser1211Thr) c.3562T>A (p.Ser1188Thr) c.3430T>A (p.Ser1144Thr) c.3298T>A (p.Ser1100Thr) | ClinVar |
20 | g.32436163T>C | CA408563085 | ASXL1 | c.3451T>C (p.Ser1151Pro) c.3268T>C (p.Ser1090Pro) n.5804T>C c.1869+1582T>C (n.1869+1582T>C) c.3436T>C (p.Ser1146Pro) c.3448T>C (p.Ser1150Pro) c.3421T>C (p.Ser1141Pro) c.3367T>C (p.Ser1123Pro) c.2767T>C (p.Ser923Pro) c.3715T>C (p.Ser1239Pro) c.3712T>C (p.Ser1238Pro) c.3631T>C (p.Ser1211Pro) c.3562T>C (p.Ser1188Pro) c.3430T>C (p.Ser1144Pro) c.3298T>C (p.Ser1100Pro) | |
20 | g.32436163T>G | CA408563086 | ASXL1 | c.3451T>G (p.Ser1151Ala) c.3268T>G (p.Ser1090Ala) n.5804T>G c.1869+1582T>G (n.1869+1582T>G) c.3436T>G (p.Ser1146Ala) c.3448T>G (p.Ser1150Ala) c.3421T>G (p.Ser1141Ala) c.3367T>G (p.Ser1123Ala) c.2767T>G (p.Ser923Ala) c.3715T>G (p.Ser1239Ala) c.3712T>G (p.Ser1238Ala) c.3631T>G (p.Ser1211Ala) c.3562T>G (p.Ser1188Ala) c.3430T>G (p.Ser1144Ala) c.3298T>G (p.Ser1100Ala) | |
20 | g.32436164C>A | CA408563089 | ASXL1 | c.3452C>A (p.Ser1151Tyr) c.3269C>A (p.Ser1090Tyr) n.5805C>A c.1869+1583C>A (n.1869+1583C>A) c.3437C>A (p.Ser1146Tyr) c.3449C>A (p.Ser1150Tyr) c.3422C>A (p.Ser1141Tyr) c.3368C>A (p.Ser1123Tyr) c.2768C>A (p.Ser923Tyr) c.3716C>A (p.Ser1239Tyr) c.3713C>A (p.Ser1238Tyr) c.3632C>A (p.Ser1211Tyr) c.3563C>A (p.Ser1188Tyr) c.3431C>A (p.Ser1144Tyr) c.3299C>A (p.Ser1100Tyr) | |
20 | g.32436164C= | CA2360293566 | ASXL1 | c.3452C= (p.Ser1151=) c.3269C= (p.Ser1090=) n.5805C= c.1869+1583C= (n.1869+1583C=) c.3437C= (p.Ser1146=) c.3449C= (p.Ser1150=) c.3422C= (p.Ser1141=) c.3368C= (p.Ser1123=) c.2768C= (p.Ser923=) c.3716C= (p.Ser1239=) c.3713C= (p.Ser1238=) c.3632C= (p.Ser1211=) c.3563C= (p.Ser1188=) c.3431C= (p.Ser1144=) c.3299C= (p.Ser1100=) | |
20 | g.32436164C>G | CA408563087 | ASXL1 | c.3452C>G (p.Ser1151Cys) c.3269C>G (p.Ser1090Cys) n.5805C>G c.1869+1583C>G (n.1869+1583C>G) c.3437C>G (p.Ser1146Cys) c.3449C>G (p.Ser1150Cys) c.3422C>G (p.Ser1141Cys) c.3368C>G (p.Ser1123Cys) c.2768C>G (p.Ser923Cys) c.3716C>G (p.Ser1239Cys) c.3713C>G (p.Ser1238Cys) c.3632C>G (p.Ser1211Cys) c.3563C>G (p.Ser1188Cys) c.3431C>G (p.Ser1144Cys) c.3299C>G (p.Ser1100Cys) | ClinVar dbSNP |
20 | g.32436164C>T | CA408563088 | ASXL1 | c.3452C>T (p.Ser1151Phe) c.3269C>T (p.Ser1090Phe) n.5805C>T c.1869+1583C>T (n.1869+1583C>T) c.3437C>T (p.Ser1146Phe) c.3449C>T (p.Ser1150Phe) c.3422C>T (p.Ser1141Phe) c.3368C>T (p.Ser1123Phe) c.2768C>T (p.Ser923Phe) c.3716C>T (p.Ser1239Phe) c.3713C>T (p.Ser1238Phe) c.3632C>T (p.Ser1211Phe) c.3563C>T (p.Ser1188Phe) c.3431C>T (p.Ser1144Phe) c.3299C>T (p.Ser1100Phe) | |
20 | g.32436165T>A | CA510467258 | ASXL1 | c.3453T>A (p.Ser1151=) c.3270T>A (p.Ser1090=) n.5806T>A c.1869+1584T>A (n.1869+1584T>A) c.3438T>A (p.Ser1146=) c.3450T>A (p.Ser1150=) c.3423T>A (p.Ser1141=) c.3369T>A (p.Ser1123=) c.2769T>A (p.Ser923=) c.3717T>A (p.Ser1239=) c.3714T>A (p.Ser1238=) c.3633T>A (p.Ser1211=) c.3564T>A (p.Ser1188=) c.3432T>A (p.Ser1144=) c.3300T>A (p.Ser1100=) | |
20 | g.32436165T>C | CA510467259 | ASXL1 | c.3453T>C (p.Ser1151=) c.3270T>C (p.Ser1090=) n.5806T>C c.1869+1584T>C (n.1869+1584T>C) c.3438T>C (p.Ser1146=) c.3450T>C (p.Ser1150=) c.3423T>C (p.Ser1141=) c.3369T>C (p.Ser1123=) c.2769T>C (p.Ser923=) c.3717T>C (p.Ser1239=) c.3714T>C (p.Ser1238=) c.3633T>C (p.Ser1211=) c.3564T>C (p.Ser1188=) c.3432T>C (p.Ser1144=) c.3300T>C (p.Ser1100=) | gnomAD v4 |
20 | g.32436165T>G | CA510467260 | ASXL1 | c.3453T>G (p.Ser1151=) c.3270T>G (p.Ser1090=) n.5806T>G c.1869+1584T>G (n.1869+1584T>G) c.3438T>G (p.Ser1146=) c.3450T>G (p.Ser1150=) c.3423T>G (p.Ser1141=) c.3369T>G (p.Ser1123=) c.2769T>G (p.Ser923=) c.3717T>G (p.Ser1239=) c.3714T>G (p.Ser1238=) c.3633T>G (p.Ser1211=) c.3564T>G (p.Ser1188=) c.3432T>G (p.Ser1144=) c.3300T>G (p.Ser1100=) | |
20 | g.32436166T>A | CA408563090 | ASXL1 | c.3454T>A (p.Leu1152Ile) c.3271T>A (p.Leu1091Ile) n.5807T>A c.1869+1585T>A (n.1869+1585T>A) c.3439T>A (p.Leu1147Ile) c.3451T>A (p.Leu1151Ile) c.3424T>A (p.Leu1142Ile) c.3370T>A (p.Leu1124Ile) c.2770T>A (p.Leu924Ile) c.3718T>A (p.Leu1240Ile) c.3715T>A (p.Leu1239Ile) c.3634T>A (p.Leu1212Ile) c.3565T>A (p.Leu1189Ile) c.3433T>A (p.Leu1145Ile) c.3301T>A (p.Leu1101Ile) | |
20 | g.32436166T>C | CA510467261 | ASXL1 | c.3454T>C (p.Leu1152=) c.3271T>C (p.Leu1091=) n.5807T>C c.1869+1585T>C (n.1869+1585T>C) c.3439T>C (p.Leu1147=) c.3451T>C (p.Leu1151=) c.3424T>C (p.Leu1142=) c.3370T>C (p.Leu1124=) c.2770T>C (p.Leu924=) c.3718T>C (p.Leu1240=) c.3715T>C (p.Leu1239=) c.3634T>C (p.Leu1212=) c.3565T>C (p.Leu1189=) c.3433T>C (p.Leu1145=) c.3301T>C (p.Leu1101=) | |
20 | g.32436166T>G | CA408563091 | ASXL1 | c.3454T>G (p.Leu1152Val) c.3271T>G (p.Leu1091Val) n.5807T>G c.1869+1585T>G (n.1869+1585T>G) c.3439T>G (p.Leu1147Val) c.3451T>G (p.Leu1151Val) c.3424T>G (p.Leu1142Val) c.3370T>G (p.Leu1124Val) c.2770T>G (p.Leu924Val) c.3718T>G (p.Leu1240Val) c.3715T>G (p.Leu1239Val) c.3634T>G (p.Leu1212Val) c.3565T>G (p.Leu1189Val) c.3433T>G (p.Leu1145Val) c.3301T>G (p.Leu1101Val) | |
20 | g.32436167T>A | CA408563092 | ASXL1 | c.3455T>A (p.Leu1152Ter) c.3272T>A (p.Leu1091Ter) n.5808T>A c.1869+1586T>A (n.1869+1586T>A) c.3440T>A (p.Leu1147Ter) c.3452T>A (p.Leu1151Ter) c.3425T>A (p.Leu1142Ter) c.3371T>A (p.Leu1124Ter) c.2771T>A (p.Leu924Ter) c.3719T>A (p.Leu1240Ter) c.3716T>A (p.Leu1239Ter) c.3635T>A (p.Leu1212Ter) c.3566T>A (p.Leu1189Ter) c.3434T>A (p.Leu1145Ter) c.3302T>A (p.Leu1101Ter) | |
20 | g.32436167T>C | CA408563093 | ASXL1 | c.3455T>C (p.Leu1152Ser) c.3272T>C (p.Leu1091Ser) n.5808T>C c.1869+1586T>C (n.1869+1586T>C) c.3440T>C (p.Leu1147Ser) c.3452T>C (p.Leu1151Ser) c.3425T>C (p.Leu1142Ser) c.3371T>C (p.Leu1124Ser) c.2771T>C (p.Leu924Ser) c.3719T>C (p.Leu1240Ser) c.3716T>C (p.Leu1239Ser) c.3635T>C (p.Leu1212Ser) c.3566T>C (p.Leu1189Ser) c.3434T>C (p.Leu1145Ser) c.3302T>C (p.Leu1101Ser) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436167T>G | CA408563094 | ASXL1 | c.3455T>G (p.Leu1152Ter) c.3272T>G (p.Leu1091Ter) n.5808T>G c.1869+1586T>G (n.1869+1586T>G) c.3440T>G (p.Leu1147Ter) c.3452T>G (p.Leu1151Ter) c.3425T>G (p.Leu1142Ter) c.3371T>G (p.Leu1124Ter) c.2771T>G (p.Leu924Ter) c.3719T>G (p.Leu1240Ter) c.3716T>G (p.Leu1239Ter) c.3635T>G (p.Leu1212Ter) c.3566T>G (p.Leu1189Ter) c.3434T>G (p.Leu1145Ter) c.3302T>G (p.Leu1101Ter) | |
20 | g.32436167T= | CA2360293567 | ASXL1 | c.3455T= (p.Leu1152=) c.3272T= (p.Leu1091=) n.5808T= c.1869+1586T= (n.1869+1586T=) c.3440T= (p.Leu1147=) c.3452T= (p.Leu1151=) c.3425T= (p.Leu1142=) c.3371T= (p.Leu1124=) c.2771T= (p.Leu924=) c.3719T= (p.Leu1240=) c.3716T= (p.Leu1239=) c.3635T= (p.Leu1212=) c.3566T= (p.Leu1189=) c.3434T= (p.Leu1145=) c.3302T= (p.Leu1101=) | |
20 | g.32436168A>C | CA408563095 | ASXL1 | c.3456A>C (p.Leu1152Phe) c.3273A>C (p.Leu1091Phe) n.5809A>C c.1869+1587A>C (n.1869+1587A>C) c.3441A>C (p.Leu1147Phe) c.3453A>C (p.Leu1151Phe) c.3426A>C (p.Leu1142Phe) c.3372A>C (p.Leu1124Phe) c.2772A>C (p.Leu924Phe) c.3720A>C (p.Leu1240Phe) c.3717A>C (p.Leu1239Phe) c.3636A>C (p.Leu1212Phe) c.3567A>C (p.Leu1189Phe) c.3435A>C (p.Leu1145Phe) c.3303A>C (p.Leu1101Phe) | |
20 | g.32436168A>G | CA510467262 | ASXL1 | c.3456A>G (p.Leu1152=) c.3273A>G (p.Leu1091=) n.5809A>G c.1869+1587A>G (n.1869+1587A>G) c.3441A>G (p.Leu1147=) c.3453A>G (p.Leu1151=) c.3426A>G (p.Leu1142=) c.3372A>G (p.Leu1124=) c.2772A>G (p.Leu924=) c.3720A>G (p.Leu1240=) c.3717A>G (p.Leu1239=) c.3636A>G (p.Leu1212=) c.3567A>G (p.Leu1189=) c.3435A>G (p.Leu1145=) c.3303A>G (p.Leu1101=) | |
20 | g.32436168A>T | CA408563096 | ASXL1 | c.3456A>T (p.Leu1152Phe) c.3273A>T (p.Leu1091Phe) n.5809A>T c.1869+1587A>T (n.1869+1587A>T) c.3441A>T (p.Leu1147Phe) c.3453A>T (p.Leu1151Phe) c.3426A>T (p.Leu1142Phe) c.3372A>T (p.Leu1124Phe) c.2772A>T (p.Leu924Phe) c.3720A>T (p.Leu1240Phe) c.3717A>T (p.Leu1239Phe) c.3636A>T (p.Leu1212Phe) c.3567A>T (p.Leu1189Phe) c.3435A>T (p.Leu1145Phe) c.3303A>T (p.Leu1101Phe) | |
20 | g.32436169C>A | CA408563097 | ASXL1 | c.3457C>A (p.His1153Asn) c.3274C>A (p.His1092Asn) n.5810C>A c.1869+1588C>A (n.1869+1588C>A) c.3442C>A (p.His1148Asn) c.3454C>A (p.His1152Asn) c.3427C>A (p.His1143Asn) c.3373C>A (p.His1125Asn) c.2773C>A (p.His925Asn) c.3721C>A (p.His1241Asn) c.3718C>A (p.His1240Asn) c.3637C>A (p.His1213Asn) c.3568C>A (p.His1190Asn) c.3436C>A (p.His1146Asn) c.3304C>A (p.His1102Asn) | |
20 | g.32436169C>G | CA408563098 | ASXL1 | c.3457C>G (p.His1153Asp) c.3274C>G (p.His1092Asp) n.5810C>G c.1869+1588C>G (n.1869+1588C>G) c.3442C>G (p.His1148Asp) c.3454C>G (p.His1152Asp) c.3427C>G (p.His1143Asp) c.3373C>G (p.His1125Asp) c.2773C>G (p.His925Asp) c.3721C>G (p.His1241Asp) c.3718C>G (p.His1240Asp) c.3637C>G (p.His1213Asp) c.3568C>G (p.His1190Asp) c.3436C>G (p.His1146Asp) c.3304C>G (p.His1102Asp) | |
20 | g.32436169C>T | CA408563099 | ASXL1 | c.3457C>T (p.His1153Tyr) c.3274C>T (p.His1092Tyr) n.5810C>T c.1869+1588C>T (n.1869+1588C>T) c.3442C>T (p.His1148Tyr) c.3454C>T (p.His1152Tyr) c.3427C>T (p.His1143Tyr) c.3373C>T (p.His1125Tyr) c.2773C>T (p.His925Tyr) c.3721C>T (p.His1241Tyr) c.3718C>T (p.His1240Tyr) c.3637C>T (p.His1213Tyr) c.3568C>T (p.His1190Tyr) c.3436C>T (p.His1146Tyr) c.3304C>T (p.His1102Tyr) | |
20 | g.32436170del | CA645612964 | ASXL1 | c.3458del (p.His1153LeufsTer18) c.3275del (p.His1092LeufsTer18) n.5811del c.1869+1589del (n.1869+1589del) c.3443del (p.His1148LeufsTer18) c.3455del (p.His1152LeufsTer18) c.3428del (p.His1143LeufsTer18) c.3374del (p.His1125LeufsTer18) c.2774del (p.His925LeufsTer18) c.3722del (p.His1241LeufsTer18) c.3719del (p.His1240LeufsTer18) c.3638del (p.His1213LeufsTer18) c.3569del (p.His1190LeufsTer18) c.3437del (p.His1146LeufsTer18) c.3305del (p.His1102LeufsTer18) | COSMIC |
20 | g.32436170A= | CA2360293568 | ASXL1 | c.3458A= (p.His1153=) c.3275A= (p.His1092=) n.5811A= c.1869+1589A= (n.1869+1589A=) c.3443A= (p.His1148=) c.3455A= (p.His1152=) c.3428A= (p.His1143=) c.3374A= (p.His1125=) c.2774A= (p.His925=) c.3722A= (p.His1241=) c.3719A= (p.His1240=) c.3638A= (p.His1213=) c.3569A= (p.His1190=) c.3437A= (p.His1146=) c.3305A= (p.His1102=) | |
20 | g.32436170A>C | CA408563100 | ASXL1 | c.3458A>C (p.His1153Pro) c.3275A>C (p.His1092Pro) n.5811A>C c.1869+1589A>C (n.1869+1589A>C) c.3443A>C (p.His1148Pro) c.3455A>C (p.His1152Pro) c.3428A>C (p.His1143Pro) c.3374A>C (p.His1125Pro) c.2774A>C (p.His925Pro) c.3722A>C (p.His1241Pro) c.3719A>C (p.His1240Pro) c.3638A>C (p.His1213Pro) c.3569A>C (p.His1190Pro) c.3437A>C (p.His1146Pro) c.3305A>C (p.His1102Pro) | |
20 | g.32436170A>G | CA9808830 | ASXL1 | c.3458A>G (p.His1153Arg) c.3275A>G (p.His1092Arg) n.5811A>G c.1869+1589A>G (n.1869+1589A>G) c.3443A>G (p.His1148Arg) c.3455A>G (p.His1152Arg) c.3428A>G (p.His1143Arg) c.3374A>G (p.His1125Arg) c.2774A>G (p.His925Arg) c.3722A>G (p.His1241Arg) c.3719A>G (p.His1240Arg) c.3638A>G (p.His1213Arg) c.3569A>G (p.His1190Arg) c.3437A>G (p.His1146Arg) c.3305A>G (p.His1102Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436170A>T | CA408563101 | ASXL1 | c.3458A>T (p.His1153Leu) c.3275A>T (p.His1092Leu) n.5811A>T c.1869+1589A>T (n.1869+1589A>T) c.3443A>T (p.His1148Leu) c.3455A>T (p.His1152Leu) c.3428A>T (p.His1143Leu) c.3374A>T (p.His1125Leu) c.2774A>T (p.His925Leu) c.3722A>T (p.His1241Leu) c.3719A>T (p.His1240Leu) c.3638A>T (p.His1213Leu) c.3569A>T (p.His1190Leu) c.3437A>T (p.His1146Leu) c.3305A>T (p.His1102Leu) | gnomAD v4 |
20 | g.32436171T>A | CA408563103 | ASXL1 | c.3459T>A (p.His1153Gln) c.3276T>A (p.His1092Gln) n.5812T>A c.1869+1590T>A (n.1869+1590T>A) c.3444T>A (p.His1148Gln) c.3456T>A (p.His1152Gln) c.3429T>A (p.His1143Gln) c.3375T>A (p.His1125Gln) c.2775T>A (p.His925Gln) c.3723T>A (p.His1241Gln) c.3720T>A (p.His1240Gln) c.3639T>A (p.His1213Gln) c.3570T>A (p.His1190Gln) c.3438T>A (p.His1146Gln) c.3306T>A (p.His1102Gln) | |
20 | g.32436171T>C | CA510467263 | ASXL1 | c.3459T>C (p.His1153=) c.3276T>C (p.His1092=) n.5812T>C c.1869+1590T>C (n.1869+1590T>C) c.3444T>C (p.His1148=) c.3456T>C (p.His1152=) c.3429T>C (p.His1143=) c.3375T>C (p.His1125=) c.2775T>C (p.His925=) c.3723T>C (p.His1241=) c.3720T>C (p.His1240=) c.3639T>C (p.His1213=) c.3570T>C (p.His1190=) c.3438T>C (p.His1146=) c.3306T>C (p.His1102=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436171T>G | CA408563102 | ASXL1 | c.3459T>G (p.His1153Gln) c.3276T>G (p.His1092Gln) n.5812T>G c.1869+1590T>G (n.1869+1590T>G) c.3444T>G (p.His1148Gln) c.3456T>G (p.His1152Gln) c.3429T>G (p.His1143Gln) c.3375T>G (p.His1125Gln) c.2775T>G (p.His925Gln) c.3723T>G (p.His1241Gln) c.3720T>G (p.His1240Gln) c.3639T>G (p.His1213Gln) c.3570T>G (p.His1190Gln) c.3438T>G (p.His1146Gln) c.3306T>G (p.His1102Gln) | |
20 | g.32436171T= | CA2360293569 | ASXL1 | c.3459T= (p.His1153=) c.3276T= (p.His1092=) n.5812T= c.1869+1590T= (n.1869+1590T=) c.3444T= (p.His1148=) c.3456T= (p.His1152=) c.3429T= (p.His1143=) c.3375T= (p.His1125=) c.2775T= (p.His925=) c.3723T= (p.His1241=) c.3720T= (p.His1240=) c.3639T= (p.His1213=) c.3570T= (p.His1190=) c.3438T= (p.His1146=) c.3306T= (p.His1102=) | |
20 | g.32436172G>A | CA408563104 | ASXL1 | c.3460G>A (p.Gly1154Ser) c.3277G>A (p.Gly1093Ser) n.5813G>A c.1869+1591G>A (n.1869+1591G>A) c.3445G>A (p.Gly1149Ser) c.3457G>A (p.Gly1153Ser) c.3430G>A (p.Gly1144Ser) c.3376G>A (p.Gly1126Ser) c.2776G>A (p.Gly926Ser) c.3724G>A (p.Gly1242Ser) c.3721G>A (p.Gly1241Ser) c.3640G>A (p.Gly1214Ser) c.3571G>A (p.Gly1191Ser) c.3439G>A (p.Gly1147Ser) c.3307G>A (p.Gly1103Ser) | ClinVar dbSNP gnomAD v4 |
20 | g.32436172G>C | CA9808831 | ASXL1 | c.3460G>C (p.Gly1154Arg) c.3277G>C (p.Gly1093Arg) n.5813G>C c.1869+1591G>C (n.1869+1591G>C) c.3445G>C (p.Gly1149Arg) c.3457G>C (p.Gly1153Arg) c.3430G>C (p.Gly1144Arg) c.3376G>C (p.Gly1126Arg) c.2776G>C (p.Gly926Arg) c.3724G>C (p.Gly1242Arg) c.3721G>C (p.Gly1241Arg) c.3640G>C (p.Gly1214Arg) c.3571G>C (p.Gly1191Arg) c.3439G>C (p.Gly1147Arg) c.3307G>C (p.Gly1103Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436172G= | CA2360293570 | ASXL1 | c.3460G= (p.Gly1154=) c.3277G= (p.Gly1093=) n.5813G= c.1869+1591G= (n.1869+1591G=) c.3445G= (p.Gly1149=) c.3457G= (p.Gly1153=) c.3430G= (p.Gly1144=) c.3376G= (p.Gly1126=) c.2776G= (p.Gly926=) c.3724G= (p.Gly1242=) c.3721G= (p.Gly1241=) c.3640G= (p.Gly1214=) c.3571G= (p.Gly1191=) c.3439G= (p.Gly1147=) c.3307G= (p.Gly1103=) | |
20 | g.32436172G>T | CA408563105 | ASXL1 | c.3460G>T (p.Gly1154Cys) c.3277G>T (p.Gly1093Cys) n.5813G>T c.1869+1591G>T (n.1869+1591G>T) c.3445G>T (p.Gly1149Cys) c.3457G>T (p.Gly1153Cys) c.3430G>T (p.Gly1144Cys) c.3376G>T (p.Gly1126Cys) c.2776G>T (p.Gly926Cys) c.3724G>T (p.Gly1242Cys) c.3721G>T (p.Gly1241Cys) c.3640G>T (p.Gly1214Cys) c.3571G>T (p.Gly1191Cys) c.3439G>T (p.Gly1147Cys) c.3307G>T (p.Gly1103Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436173G>A | CA408563106 | ASXL1 | c.3461G>A (p.Gly1154Asp) c.3278G>A (p.Gly1093Asp) n.5814G>A c.1869+1592G>A (n.1869+1592G>A) c.3446G>A (p.Gly1149Asp) c.3458G>A (p.Gly1153Asp) c.3431G>A (p.Gly1144Asp) c.3377G>A (p.Gly1126Asp) c.2777G>A (p.Gly926Asp) c.3725G>A (p.Gly1242Asp) c.3722G>A (p.Gly1241Asp) c.3641G>A (p.Gly1214Asp) c.3572G>A (p.Gly1191Asp) c.3440G>A (p.Gly1147Asp) c.3308G>A (p.Gly1103Asp) | |
20 | g.32436173G>C | CA408563107 | ASXL1 | c.3461G>C (p.Gly1154Ala) c.3278G>C (p.Gly1093Ala) n.5814G>C c.1869+1592G>C (n.1869+1592G>C) c.3446G>C (p.Gly1149Ala) c.3458G>C (p.Gly1153Ala) c.3431G>C (p.Gly1144Ala) c.3377G>C (p.Gly1126Ala) c.2777G>C (p.Gly926Ala) c.3725G>C (p.Gly1242Ala) c.3722G>C (p.Gly1241Ala) c.3641G>C (p.Gly1214Ala) c.3572G>C (p.Gly1191Ala) c.3440G>C (p.Gly1147Ala) c.3308G>C (p.Gly1103Ala) | |
20 | g.32436173G>T | CA408563108 | ASXL1 | c.3461G>T (p.Gly1154Val) c.3278G>T (p.Gly1093Val) n.5814G>T c.1869+1592G>T (n.1869+1592G>T) c.3446G>T (p.Gly1149Val) c.3458G>T (p.Gly1153Val) c.3431G>T (p.Gly1144Val) c.3377G>T (p.Gly1126Val) c.2777G>T (p.Gly926Val) c.3725G>T (p.Gly1242Val) c.3722G>T (p.Gly1241Val) c.3641G>T (p.Gly1214Val) c.3572G>T (p.Gly1191Val) c.3440G>T (p.Gly1147Val) c.3308G>T (p.Gly1103Val) | |
20 | g.32436174T>A | CA510467266 | ASXL1 | c.3462T>A (p.Gly1154=) c.3279T>A (p.Gly1093=) n.5815T>A c.1869+1593T>A (n.1869+1593T>A) c.3447T>A (p.Gly1149=) c.3459T>A (p.Gly1153=) c.3432T>A (p.Gly1144=) c.3378T>A (p.Gly1126=) c.2778T>A (p.Gly926=) c.3726T>A (p.Gly1242=) c.3723T>A (p.Gly1241=) c.3642T>A (p.Gly1214=) c.3573T>A (p.Gly1191=) c.3441T>A (p.Gly1147=) c.3309T>A (p.Gly1103=) | dbSNP |
20 | g.32436174T>C | CA510467265 | ASXL1 | c.3462T>C (p.Gly1154=) c.3279T>C (p.Gly1093=) n.5815T>C c.1869+1593T>C (n.1869+1593T>C) c.3447T>C (p.Gly1149=) c.3459T>C (p.Gly1153=) c.3432T>C (p.Gly1144=) c.3378T>C (p.Gly1126=) c.2778T>C (p.Gly926=) c.3726T>C (p.Gly1242=) c.3723T>C (p.Gly1241=) c.3642T>C (p.Gly1214=) c.3573T>C (p.Gly1191=) c.3441T>C (p.Gly1147=) c.3309T>C (p.Gly1103=) | |
20 | g.32436174T>G | CA510467264 | ASXL1 | c.3462T>G (p.Gly1154=) c.3279T>G (p.Gly1093=) n.5815T>G c.1869+1593T>G (n.1869+1593T>G) c.3447T>G (p.Gly1149=) c.3459T>G (p.Gly1153=) c.3432T>G (p.Gly1144=) c.3378T>G (p.Gly1126=) c.2778T>G (p.Gly926=) c.3726T>G (p.Gly1242=) c.3723T>G (p.Gly1241=) c.3642T>G (p.Gly1214=) c.3573T>G (p.Gly1191=) c.3441T>G (p.Gly1147=) c.3309T>G (p.Gly1103=) | gnomAD v4 |
20 | g.32436175C>A | CA9808832 | ASXL1 | c.3463C>A (p.Leu1155Ile) c.3280C>A (p.Leu1094Ile) n.5816C>A c.1869+1594C>A (n.1869+1594C>A) c.3448C>A (p.Leu1150Ile) c.3460C>A (p.Leu1154Ile) c.3433C>A (p.Leu1145Ile) c.3379C>A (p.Leu1127Ile) c.2779C>A (p.Leu927Ile) c.3727C>A (p.Leu1243Ile) c.3724C>A (p.Leu1242Ile) c.3643C>A (p.Leu1215Ile) c.3574C>A (p.Leu1192Ile) c.3442C>A (p.Leu1148Ile) c.3310C>A (p.Leu1104Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436175C= | CA2360293571 | ASXL1 | c.3463C= (p.Leu1155=) c.3280C= (p.Leu1094=) n.5816C= c.1869+1594C= (n.1869+1594C=) c.3448C= (p.Leu1150=) c.3460C= (p.Leu1154=) c.3433C= (p.Leu1145=) c.3379C= (p.Leu1127=) c.2779C= (p.Leu927=) c.3727C= (p.Leu1243=) c.3724C= (p.Leu1242=) c.3643C= (p.Leu1215=) c.3574C= (p.Leu1192=) c.3442C= (p.Leu1148=) c.3310C= (p.Leu1104=) | |
20 | g.32436175C>G | CA408563109 | ASXL1 | c.3463C>G (p.Leu1155Val) c.3280C>G (p.Leu1094Val) n.5816C>G c.1869+1594C>G (n.1869+1594C>G) c.3448C>G (p.Leu1150Val) c.3460C>G (p.Leu1154Val) c.3433C>G (p.Leu1145Val) c.3379C>G (p.Leu1127Val) c.2779C>G (p.Leu927Val) c.3727C>G (p.Leu1243Val) c.3724C>G (p.Leu1242Val) c.3643C>G (p.Leu1215Val) c.3574C>G (p.Leu1192Val) c.3442C>G (p.Leu1148Val) c.3310C>G (p.Leu1104Val) | |
20 | g.32436175C>T | CA408563110 | ASXL1 | c.3463C>T (p.Leu1155Phe) c.3280C>T (p.Leu1094Phe) n.5816C>T c.1869+1594C>T (n.1869+1594C>T) c.3448C>T (p.Leu1150Phe) c.3460C>T (p.Leu1154Phe) c.3433C>T (p.Leu1145Phe) c.3379C>T (p.Leu1127Phe) c.2779C>T (p.Leu927Phe) c.3727C>T (p.Leu1243Phe) c.3724C>T (p.Leu1242Phe) c.3643C>T (p.Leu1215Phe) c.3574C>T (p.Leu1192Phe) c.3442C>T (p.Leu1148Phe) c.3310C>T (p.Leu1104Phe) | |
20 | g.32436176T>A | CA408563111 | ASXL1 | c.3464T>A (p.Leu1155His) c.3281T>A (p.Leu1094His) n.5817T>A c.1869+1595T>A (n.1869+1595T>A) c.3449T>A (p.Leu1150His) c.3461T>A (p.Leu1154His) c.3434T>A (p.Leu1145His) c.3380T>A (p.Leu1127His) c.2780T>A (p.Leu927His) c.3728T>A (p.Leu1243His) c.3725T>A (p.Leu1242His) c.3644T>A (p.Leu1215His) c.3575T>A (p.Leu1192His) c.3443T>A (p.Leu1148His) c.3311T>A (p.Leu1104His) | |
20 | g.32436176T>C | CA408563112 | ASXL1 | c.3464T>C (p.Leu1155Pro) c.3281T>C (p.Leu1094Pro) n.5817T>C c.1869+1595T>C (n.1869+1595T>C) c.3449T>C (p.Leu1150Pro) c.3461T>C (p.Leu1154Pro) c.3434T>C (p.Leu1145Pro) c.3380T>C (p.Leu1127Pro) c.2780T>C (p.Leu927Pro) c.3728T>C (p.Leu1243Pro) c.3725T>C (p.Leu1242Pro) c.3644T>C (p.Leu1215Pro) c.3575T>C (p.Leu1192Pro) c.3443T>C (p.Leu1148Pro) c.3311T>C (p.Leu1104Pro) | |
20 | g.32436176T>G | CA408563113 | ASXL1 | c.3464T>G (p.Leu1155Arg) c.3281T>G (p.Leu1094Arg) n.5817T>G c.1869+1595T>G (n.1869+1595T>G) c.3449T>G (p.Leu1150Arg) c.3461T>G (p.Leu1154Arg) c.3434T>G (p.Leu1145Arg) c.3380T>G (p.Leu1127Arg) c.2780T>G (p.Leu927Arg) c.3728T>G (p.Leu1243Arg) c.3725T>G (p.Leu1242Arg) c.3644T>G (p.Leu1215Arg) c.3575T>G (p.Leu1192Arg) c.3443T>G (p.Leu1148Arg) c.3311T>G (p.Leu1104Arg) | |
20 | g.32436177T>A | CA510467268 | ASXL1 | c.3465T>A (p.Leu1155=) c.3282T>A (p.Leu1094=) n.5818T>A c.1869+1596T>A (n.1869+1596T>A) c.3450T>A (p.Leu1150=) c.3462T>A (p.Leu1154=) c.3435T>A (p.Leu1145=) c.3381T>A (p.Leu1127=) c.2781T>A (p.Leu927=) c.3729T>A (p.Leu1243=) c.3726T>A (p.Leu1242=) c.3645T>A (p.Leu1215=) c.3576T>A (p.Leu1192=) c.3444T>A (p.Leu1148=) c.3312T>A (p.Leu1104=) | |
20 | g.32436177T>C | CA9808833 | ASXL1 | c.3465T>C (p.Leu1155=) c.3282T>C (p.Leu1094=) n.5818T>C c.1869+1596T>C (n.1869+1596T>C) c.3450T>C (p.Leu1150=) c.3462T>C (p.Leu1154=) c.3435T>C (p.Leu1145=) c.3381T>C (p.Leu1127=) c.2781T>C (p.Leu927=) c.3729T>C (p.Leu1243=) c.3726T>C (p.Leu1242=) c.3645T>C (p.Leu1215=) c.3576T>C (p.Leu1192=) c.3444T>C (p.Leu1148=) c.3312T>C (p.Leu1104=) | dbSNP ExAC |
20 | g.32436177T>G | CA510467267 | ASXL1 | c.3465T>G (p.Leu1155=) c.3282T>G (p.Leu1094=) n.5818T>G c.1869+1596T>G (n.1869+1596T>G) c.3450T>G (p.Leu1150=) c.3462T>G (p.Leu1154=) c.3435T>G (p.Leu1145=) c.3381T>G (p.Leu1127=) c.2781T>G (p.Leu927=) c.3729T>G (p.Leu1243=) c.3726T>G (p.Leu1242=) c.3645T>G (p.Leu1215=) c.3576T>G (p.Leu1192=) c.3444T>G (p.Leu1148=) c.3312T>G (p.Leu1104=) | |
20 | g.32436177T= | CA2360293572 | ASXL1 | c.3465T= (p.Leu1155=) c.3282T= (p.Leu1094=) n.5818T= c.1869+1596T= (n.1869+1596T=) c.3450T= (p.Leu1150=) c.3462T= (p.Leu1154=) c.3435T= (p.Leu1145=) c.3381T= (p.Leu1127=) c.2781T= (p.Leu927=) c.3729T= (p.Leu1243=) c.3726T= (p.Leu1242=) c.3645T= (p.Leu1215=) c.3576T= (p.Leu1192=) c.3444T= (p.Leu1148=) c.3312T= (p.Leu1104=) | |
20 | g.32436178G>A | CA408563114 | ASXL1 | c.3466G>A (p.Gly1156Arg) c.3283G>A (p.Gly1095Arg) n.5819G>A c.1869+1597G>A (n.1869+1597G>A) c.3451G>A (p.Gly1151Arg) c.3463G>A (p.Gly1155Arg) c.3436G>A (p.Gly1146Arg) c.3382G>A (p.Gly1128Arg) c.2782G>A (p.Gly928Arg) c.3730G>A (p.Gly1244Arg) c.3727G>A (p.Gly1243Arg) c.3646G>A (p.Gly1216Arg) c.3577G>A (p.Gly1193Arg) c.3445G>A (p.Gly1149Arg) c.3313G>A (p.Gly1105Arg) | dbSNP |
20 | g.32436178G>C | CA408563116 | ASXL1 | c.3466G>C (p.Gly1156Arg) c.3283G>C (p.Gly1095Arg) n.5819G>C c.1869+1597G>C (n.1869+1597G>C) c.3451G>C (p.Gly1151Arg) c.3463G>C (p.Gly1155Arg) c.3436G>C (p.Gly1146Arg) c.3382G>C (p.Gly1128Arg) c.2782G>C (p.Gly928Arg) c.3730G>C (p.Gly1244Arg) c.3727G>C (p.Gly1243Arg) c.3646G>C (p.Gly1216Arg) c.3577G>C (p.Gly1193Arg) c.3445G>C (p.Gly1149Arg) c.3313G>C (p.Gly1105Arg) | |
20 | g.32436178G>T | CA408563115 | ASXL1 | c.3466G>T (p.Gly1156Ter) c.3283G>T (p.Gly1095Ter) n.5819G>T c.1869+1597G>T (n.1869+1597G>T) c.3451G>T (p.Gly1151Ter) c.3463G>T (p.Gly1155Ter) c.3436G>T (p.Gly1146Ter) c.3382G>T (p.Gly1128Ter) c.2782G>T (p.Gly928Ter) c.3730G>T (p.Gly1244Ter) c.3727G>T (p.Gly1243Ter) c.3646G>T (p.Gly1216Ter) c.3577G>T (p.Gly1193Ter) c.3445G>T (p.Gly1149Ter) c.3313G>T (p.Gly1105Ter) | |
20 | g.32436179G>A | CA408563117 | ASXL1 | c.3467G>A (p.Gly1156Glu) c.3284G>A (p.Gly1095Glu) n.5820G>A c.1869+1598G>A (n.1869+1598G>A) c.3452G>A (p.Gly1151Glu) c.3464G>A (p.Gly1155Glu) c.3437G>A (p.Gly1146Glu) c.3383G>A (p.Gly1128Glu) c.2783G>A (p.Gly928Glu) c.3731G>A (p.Gly1244Glu) c.3728G>A (p.Gly1243Glu) c.3647G>A (p.Gly1216Glu) c.3578G>A (p.Gly1193Glu) c.3446G>A (p.Gly1149Glu) c.3314G>A (p.Gly1105Glu) | dbSNP |
20 | g.32436179G>C | CA408563119 | ASXL1 | c.3467G>C (p.Gly1156Ala) c.3284G>C (p.Gly1095Ala) n.5820G>C c.1869+1598G>C (n.1869+1598G>C) c.3452G>C (p.Gly1151Ala) c.3464G>C (p.Gly1155Ala) c.3437G>C (p.Gly1146Ala) c.3383G>C (p.Gly1128Ala) c.2783G>C (p.Gly928Ala) c.3731G>C (p.Gly1244Ala) c.3728G>C (p.Gly1243Ala) c.3647G>C (p.Gly1216Ala) c.3578G>C (p.Gly1193Ala) c.3446G>C (p.Gly1149Ala) c.3314G>C (p.Gly1105Ala) | |
20 | g.32436179G= | CA2360293573 | ASXL1 | c.3467G= (p.Gly1156=) c.3284G= (p.Gly1095=) n.5820G= c.1869+1598G= (n.1869+1598G=) c.3452G= (p.Gly1151=) c.3464G= (p.Gly1155=) c.3437G= (p.Gly1146=) c.3383G= (p.Gly1128=) c.2783G= (p.Gly928=) c.3731G= (p.Gly1244=) c.3728G= (p.Gly1243=) c.3647G= (p.Gly1216=) c.3578G= (p.Gly1193=) c.3446G= (p.Gly1149=) c.3314G= (p.Gly1105=) | |
20 | g.32436179G>T | CA408563118 | ASXL1 | c.3467G>T (p.Gly1156Val) c.3284G>T (p.Gly1095Val) n.5820G>T c.1869+1598G>T (n.1869+1598G>T) c.3452G>T (p.Gly1151Val) c.3464G>T (p.Gly1155Val) c.3437G>T (p.Gly1146Val) c.3383G>T (p.Gly1128Val) c.2783G>T (p.Gly928Val) c.3731G>T (p.Gly1244Val) c.3728G>T (p.Gly1243Val) c.3647G>T (p.Gly1216Val) c.3578G>T (p.Gly1193Val) c.3446G>T (p.Gly1149Val) c.3314G>T (p.Gly1105Val) | |
20 | g.32436180A>C | CA510467269 | ASXL1 | c.3468A>C (p.Gly1156=) c.3285A>C (p.Gly1095=) n.5821A>C c.1869+1599A>C (n.1869+1599A>C) c.3453A>C (p.Gly1151=) c.3465A>C (p.Gly1155=) c.3438A>C (p.Gly1146=) c.3384A>C (p.Gly1128=) c.2784A>C (p.Gly928=) c.3732A>C (p.Gly1244=) c.3729A>C (p.Gly1243=) c.3648A>C (p.Gly1216=) c.3579A>C (p.Gly1193=) c.3447A>C (p.Gly1149=) c.3315A>C (p.Gly1105=) | |
20 | g.32436180A>G | CA510467271 | ASXL1 | c.3468A>G (p.Gly1156=) c.3285A>G (p.Gly1095=) n.5821A>G c.1869+1599A>G (n.1869+1599A>G) c.3453A>G (p.Gly1151=) c.3465A>G (p.Gly1155=) c.3438A>G (p.Gly1146=) c.3384A>G (p.Gly1128=) c.2784A>G (p.Gly928=) c.3732A>G (p.Gly1244=) c.3729A>G (p.Gly1243=) c.3648A>G (p.Gly1216=) c.3579A>G (p.Gly1193=) c.3447A>G (p.Gly1149=) c.3315A>G (p.Gly1105=) | |
20 | g.32436180A>T | CA510467270 | ASXL1 | c.3468A>T (p.Gly1156=) c.3285A>T (p.Gly1095=) n.5821A>T c.1869+1599A>T (n.1869+1599A>T) c.3453A>T (p.Gly1151=) c.3465A>T (p.Gly1155=) c.3438A>T (p.Gly1146=) c.3384A>T (p.Gly1128=) c.2784A>T (p.Gly928=) c.3732A>T (p.Gly1244=) c.3729A>T (p.Gly1243=) c.3648A>T (p.Gly1216=) c.3579A>T (p.Gly1193=) c.3447A>T (p.Gly1149=) c.3315A>T (p.Gly1105=) | |
20 | g.32436185dup | CA920201482 | ASXL1 | c.3473dup (p.Asn1158LysfsTer6) c.3290dup (p.Asn1097LysfsTer6) n.5826dup c.1869+1604dup (n.1869+1604dup) c.3458dup (p.Asn1153LysfsTer6) c.3470dup (p.Asn1157LysfsTer6) c.3443dup (p.Asn1148LysfsTer6) c.3389dup (p.Asn1130LysfsTer6) c.2789dup (p.Asn930LysfsTer6) c.3737dup (p.Asn1246LysfsTer6) c.3734dup (p.Asn1245LysfsTer6) c.3653dup (p.Asn1218LysfsTer6) c.3584dup (p.Asn1195LysfsTer6) c.3452dup (p.Asn1151LysfsTer6) c.3320dup (p.Asn1107LysfsTer6) | dbSNP |
20 | g.32436185del | CA2736476292 | ASXL1 | c.3473del (p.Asn1158ThrfsTer13) c.3290del (p.Asn1097ThrfsTer13) n.5826del c.1869+1604del (n.1869+1604del) c.3458del (p.Asn1153ThrfsTer13) c.3470del (p.Asn1157ThrfsTer13) c.3443del (p.Asn1148ThrfsTer13) c.3389del (p.Asn1130ThrfsTer13) c.2789del (p.Asn930ThrfsTer13) c.3737del (p.Asn1246ThrfsTer13) c.3734del (p.Asn1245ThrfsTer13) c.3653del (p.Asn1218ThrfsTer13) c.3584del (p.Asn1195ThrfsTer13) c.3452del (p.Asn1151ThrfsTer13) c.3320del (p.Asn1107ThrfsTer13) | dbSNP |
20 | g.32436181A= | CA2360293574 | ASXL1 | c.3469A= (p.Lys1157=) c.3286A= (p.Lys1096=) n.5822A= c.1869+1600A= (n.1869+1600A=) c.3454A= (p.Lys1152=) c.3466A= (p.Lys1156=) c.3439A= (p.Lys1147=) c.3385A= (p.Lys1129=) c.2785A= (p.Lys929=) c.3733A= (p.Lys1245=) c.3730A= (p.Lys1244=) c.3649A= (p.Lys1217=) c.3580A= (p.Lys1194=) c.3448A= (p.Lys1150=) c.3316A= (p.Lys1106=) | |
20 | g.32436181A>C | CA408563120 | ASXL1 | c.3469A>C (p.Lys1157Gln) c.3286A>C (p.Lys1096Gln) n.5822A>C c.1869+1600A>C (n.1869+1600A>C) c.3454A>C (p.Lys1152Gln) c.3466A>C (p.Lys1156Gln) c.3439A>C (p.Lys1147Gln) c.3385A>C (p.Lys1129Gln) c.2785A>C (p.Lys929Gln) c.3733A>C (p.Lys1245Gln) c.3730A>C (p.Lys1244Gln) c.3649A>C (p.Lys1217Gln) c.3580A>C (p.Lys1194Gln) c.3448A>C (p.Lys1150Gln) c.3316A>C (p.Lys1106Gln) | |
20 | g.32436181A>G | CA9808834 | ASXL1 | c.3469A>G (p.Lys1157Glu) c.3286A>G (p.Lys1096Glu) n.5822A>G c.1869+1600A>G (n.1869+1600A>G) c.3454A>G (p.Lys1152Glu) c.3466A>G (p.Lys1156Glu) c.3439A>G (p.Lys1147Glu) c.3385A>G (p.Lys1129Glu) c.2785A>G (p.Lys929Glu) c.3733A>G (p.Lys1245Glu) c.3730A>G (p.Lys1244Glu) c.3649A>G (p.Lys1217Glu) c.3580A>G (p.Lys1194Glu) c.3448A>G (p.Lys1150Glu) c.3316A>G (p.Lys1106Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436181A>T | CA408563121 | ASXL1 | c.3469A>T (p.Lys1157Ter) c.3286A>T (p.Lys1096Ter) n.5822A>T c.1869+1600A>T (n.1869+1600A>T) c.3454A>T (p.Lys1152Ter) c.3466A>T (p.Lys1156Ter) c.3439A>T (p.Lys1147Ter) c.3385A>T (p.Lys1129Ter) c.2785A>T (p.Lys929Ter) c.3733A>T (p.Lys1245Ter) c.3730A>T (p.Lys1244Ter) c.3649A>T (p.Lys1217Ter) c.3580A>T (p.Lys1194Ter) c.3448A>T (p.Lys1150Ter) c.3316A>T (p.Lys1106Ter) | |
20 | g.32436182A= | CA2360293575 | ASXL1 | c.3470A= (p.Lys1157=) c.3287A= (p.Lys1096=) n.5823A= c.1869+1601A= (n.1869+1601A=) c.3455A= (p.Lys1152=) c.3467A= (p.Lys1156=) c.3440A= (p.Lys1147=) c.3386A= (p.Lys1129=) c.2786A= (p.Lys929=) c.3734A= (p.Lys1245=) c.3731A= (p.Lys1244=) c.3650A= (p.Lys1217=) c.3581A= (p.Lys1194=) c.3449A= (p.Lys1150=) c.3317A= (p.Lys1106=) | |
20 | g.32436182A>C | CA408563122 | ASXL1 | c.3470A>C (p.Lys1157Thr) c.3287A>C (p.Lys1096Thr) n.5823A>C c.1869+1601A>C (n.1869+1601A>C) c.3455A>C (p.Lys1152Thr) c.3467A>C (p.Lys1156Thr) c.3440A>C (p.Lys1147Thr) c.3386A>C (p.Lys1129Thr) c.2786A>C (p.Lys929Thr) c.3734A>C (p.Lys1245Thr) c.3731A>C (p.Lys1244Thr) c.3650A>C (p.Lys1217Thr) c.3581A>C (p.Lys1194Thr) c.3449A>C (p.Lys1150Thr) c.3317A>C (p.Lys1106Thr) | |
20 | g.32436182A>G | CA9808835 | ASXL1 | c.3470A>G (p.Lys1157Arg) c.3287A>G (p.Lys1096Arg) n.5823A>G c.1869+1601A>G (n.1869+1601A>G) c.3455A>G (p.Lys1152Arg) c.3467A>G (p.Lys1156Arg) c.3440A>G (p.Lys1147Arg) c.3386A>G (p.Lys1129Arg) c.2786A>G (p.Lys929Arg) c.3734A>G (p.Lys1245Arg) c.3731A>G (p.Lys1244Arg) c.3650A>G (p.Lys1217Arg) c.3581A>G (p.Lys1194Arg) c.3449A>G (p.Lys1150Arg) c.3317A>G (p.Lys1106Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436182A>T | CA408563123 | ASXL1 | c.3470A>T (p.Lys1157Ile) c.3287A>T (p.Lys1096Ile) n.5823A>T c.1869+1601A>T (n.1869+1601A>T) c.3455A>T (p.Lys1152Ile) c.3467A>T (p.Lys1156Ile) c.3440A>T (p.Lys1147Ile) c.3386A>T (p.Lys1129Ile) c.2786A>T (p.Lys929Ile) c.3734A>T (p.Lys1245Ile) c.3731A>T (p.Lys1244Ile) c.3650A>T (p.Lys1217Ile) c.3581A>T (p.Lys1194Ile) c.3449A>T (p.Lys1150Ile) c.3317A>T (p.Lys1106Ile) | |
20 | g.32436183A>C | CA408563124 | ASXL1 | c.3471A>C (p.Lys1157Asn) c.3288A>C (p.Lys1096Asn) n.5824A>C c.1869+1602A>C (n.1869+1602A>C) c.3456A>C (p.Lys1152Asn) c.3468A>C (p.Lys1156Asn) c.3441A>C (p.Lys1147Asn) c.3387A>C (p.Lys1129Asn) c.2787A>C (p.Lys929Asn) c.3735A>C (p.Lys1245Asn) c.3732A>C (p.Lys1244Asn) c.3651A>C (p.Lys1217Asn) c.3582A>C (p.Lys1194Asn) c.3450A>C (p.Lys1150Asn) c.3318A>C (p.Lys1106Asn) | |
20 | g.32436183A>G | CA510467272 | ASXL1 | c.3471A>G (p.Lys1157=) c.3288A>G (p.Lys1096=) n.5824A>G c.1869+1602A>G (n.1869+1602A>G) c.3456A>G (p.Lys1152=) c.3468A>G (p.Lys1156=) c.3441A>G (p.Lys1147=) c.3387A>G (p.Lys1129=) c.2787A>G (p.Lys929=) c.3735A>G (p.Lys1245=) c.3732A>G (p.Lys1244=) c.3651A>G (p.Lys1217=) c.3582A>G (p.Lys1194=) c.3450A>G (p.Lys1150=) c.3318A>G (p.Lys1106=) | |
20 | g.32436183A>T | CA408563125 | ASXL1 | c.3471A>T (p.Lys1157Asn) c.3288A>T (p.Lys1096Asn) n.5824A>T c.1869+1602A>T (n.1869+1602A>T) c.3456A>T (p.Lys1152Asn) c.3468A>T (p.Lys1156Asn) c.3441A>T (p.Lys1147Asn) c.3387A>T (p.Lys1129Asn) c.2787A>T (p.Lys929Asn) c.3735A>T (p.Lys1245Asn) c.3732A>T (p.Lys1244Asn) c.3651A>T (p.Lys1217Asn) c.3582A>T (p.Lys1194Asn) c.3450A>T (p.Lys1150Asn) c.3318A>T (p.Lys1106Asn) | |
20 | g.32436183_32436186delinsAAAC | CA2360293576 | ASXL1 | c.3471_3474delinsAAAC (p.Lys1157=) c.3288_3291delinsAAAC (p.Lys1096=) n.5824_5827delinsAAAC c.1869+1602_1869+1605delinsAAAC (n.1869+1602_1869+1605delinsAAAC) c.3456_3459delinsAAAC (p.Lys1152=) c.3468_3471delinsAAAC (p.Lys1156=) c.3441_3444delinsAAAC (p.Lys1147=) c.3387_3390delinsAAAC (p.Lys1129=) c.2787_2790delinsAAAC (p.Lys929=) c.3735_3738delinsAAAC (p.Lys1245=) c.3732_3735delinsAAAC (p.Lys1244=) c.3651_3654delinsAAAC (p.Lys1217=) c.3582_3585delinsAAAC (p.Lys1194=) c.3450_3453delinsAAAC (p.Lys1150=) c.3318_3321delinsAAAC (p.Lys1106=) | |
20 | g.32436184A>C | CA408563126 | ASXL1 | c.3472A>C (p.Asn1158His) c.3289A>C (p.Asn1097His) n.5825A>C c.1869+1603A>C (n.1869+1603A>C) c.3457A>C (p.Asn1153His) c.3469A>C (p.Asn1157His) c.3442A>C (p.Asn1148His) c.3388A>C (p.Asn1130His) c.2788A>C (p.Asn930His) c.3736A>C (p.Asn1246His) c.3733A>C (p.Asn1245His) c.3652A>C (p.Asn1218His) c.3583A>C (p.Asn1195His) c.3451A>C (p.Asn1151His) c.3319A>C (p.Asn1107His) | |
20 | g.32436184A>G | CA408563127 | ASXL1 | c.3472A>G (p.Asn1158Asp) c.3289A>G (p.Asn1097Asp) n.5825A>G c.1869+1603A>G (n.1869+1603A>G) c.3457A>G (p.Asn1153Asp) c.3469A>G (p.Asn1157Asp) c.3442A>G (p.Asn1148Asp) c.3388A>G (p.Asn1130Asp) c.2788A>G (p.Asn930Asp) c.3736A>G (p.Asn1246Asp) c.3733A>G (p.Asn1245Asp) c.3652A>G (p.Asn1218Asp) c.3583A>G (p.Asn1195Asp) c.3451A>G (p.Asn1151Asp) c.3319A>G (p.Asn1107Asp) | |
20 | g.32436184A>T | CA408563128 | ASXL1 | c.3472A>T (p.Asn1158Tyr) c.3289A>T (p.Asn1097Tyr) n.5825A>T c.1869+1603A>T (n.1869+1603A>T) c.3457A>T (p.Asn1153Tyr) c.3469A>T (p.Asn1157Tyr) c.3442A>T (p.Asn1148Tyr) c.3388A>T (p.Asn1130Tyr) c.2788A>T (p.Asn930Tyr) c.3736A>T (p.Asn1246Tyr) c.3733A>T (p.Asn1245Tyr) c.3652A>T (p.Asn1218Tyr) c.3583A>T (p.Asn1195Tyr) c.3451A>T (p.Asn1151Tyr) c.3319A>T (p.Asn1107Tyr) | |
20 | g.32436185_32436187del | CA743615196 | ASXL1 | c.3473_3475del (p.Asn1158del) c.3290_3292del (p.Asn1097del) n.5826_5828del c.1869+1604_1869+1606del (n.1869+1604_1869+1606del) c.3458_3460del (p.Asn1153del) c.3470_3472del (p.Asn1157del) c.3443_3445del (p.Asn1148del) c.3389_3391del (p.Asn1130del) c.2789_2791del (p.Asn930del) c.3737_3739del (p.Asn1246del) c.3734_3736del (p.Asn1245del) c.3653_3655del (p.Asn1218del) c.3584_3586del (p.Asn1195del) c.3452_3454del (p.Asn1151del) c.3320_3322del (p.Asn1107del) | dbSNP |
20 | g.32436185A>C | CA408563131 | ASXL1 | c.3473A>C (p.Asn1158Thr) c.3290A>C (p.Asn1097Thr) n.5826A>C c.1869+1604A>C (n.1869+1604A>C) c.3458A>C (p.Asn1153Thr) c.3470A>C (p.Asn1157Thr) c.3443A>C (p.Asn1148Thr) c.3389A>C (p.Asn1130Thr) c.2789A>C (p.Asn930Thr) c.3737A>C (p.Asn1246Thr) c.3734A>C (p.Asn1245Thr) c.3653A>C (p.Asn1218Thr) c.3584A>C (p.Asn1195Thr) c.3452A>C (p.Asn1151Thr) c.3320A>C (p.Asn1107Thr) | |
20 | g.32436185A>G | CA408563129 | ASXL1 | c.3473A>G (p.Asn1158Ser) c.3290A>G (p.Asn1097Ser) n.5826A>G c.1869+1604A>G (n.1869+1604A>G) c.3458A>G (p.Asn1153Ser) c.3470A>G (p.Asn1157Ser) c.3443A>G (p.Asn1148Ser) c.3389A>G (p.Asn1130Ser) c.2789A>G (p.Asn930Ser) c.3737A>G (p.Asn1246Ser) c.3734A>G (p.Asn1245Ser) c.3653A>G (p.Asn1218Ser) c.3584A>G (p.Asn1195Ser) c.3452A>G (p.Asn1151Ser) c.3320A>G (p.Asn1107Ser) | gnomAD v4 |
20 | g.32436185A>T | CA408563130 | ASXL1 | c.3473A>T (p.Asn1158Ile) c.3290A>T (p.Asn1097Ile) n.5826A>T c.1869+1604A>T (n.1869+1604A>T) c.3458A>T (p.Asn1153Ile) c.3470A>T (p.Asn1157Ile) c.3443A>T (p.Asn1148Ile) c.3389A>T (p.Asn1130Ile) c.2789A>T (p.Asn930Ile) c.3737A>T (p.Asn1246Ile) c.3734A>T (p.Asn1245Ile) c.3653A>T (p.Asn1218Ile) c.3584A>T (p.Asn1195Ile) c.3452A>T (p.Asn1151Ile) c.3320A>T (p.Asn1107Ile) | |
20 | g.32436186C>A | CA408563132 | ASXL1 | c.3474C>A (p.Asn1158Lys) c.3291C>A (p.Asn1097Lys) n.5827C>A c.1869+1605C>A (n.1869+1605C>A) c.3459C>A (p.Asn1153Lys) c.3471C>A (p.Asn1157Lys) c.3444C>A (p.Asn1148Lys) c.3390C>A (p.Asn1130Lys) c.2790C>A (p.Asn930Lys) c.3738C>A (p.Asn1246Lys) c.3735C>A (p.Asn1245Lys) c.3654C>A (p.Asn1218Lys) c.3585C>A (p.Asn1195Lys) c.3453C>A (p.Asn1151Lys) c.3321C>A (p.Asn1107Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436186C= | CA2360293577 | ASXL1 | c.3474C= (p.Asn1158=) c.3291C= (p.Asn1097=) n.5827C= c.1869+1605C= (n.1869+1605C=) c.3459C= (p.Asn1153=) c.3471C= (p.Asn1157=) c.3444C= (p.Asn1148=) c.3390C= (p.Asn1130=) c.2790C= (p.Asn930=) c.3738C= (p.Asn1246=) c.3735C= (p.Asn1245=) c.3654C= (p.Asn1218=) c.3585C= (p.Asn1195=) c.3453C= (p.Asn1151=) c.3321C= (p.Asn1107=) | |
20 | g.32436186C>G | CA408563133 | ASXL1 | c.3474C>G (p.Asn1158Lys) c.3291C>G (p.Asn1097Lys) n.5827C>G c.1869+1605C>G (n.1869+1605C>G) c.3459C>G (p.Asn1153Lys) c.3471C>G (p.Asn1157Lys) c.3444C>G (p.Asn1148Lys) c.3390C>G (p.Asn1130Lys) c.2790C>G (p.Asn930Lys) c.3738C>G (p.Asn1246Lys) c.3735C>G (p.Asn1245Lys) c.3654C>G (p.Asn1218Lys) c.3585C>G (p.Asn1195Lys) c.3453C>G (p.Asn1151Lys) c.3321C>G (p.Asn1107Lys) | dbSNP |
20 | g.32436186C>T | CA510467273 | ASXL1 | c.3474C>T (p.Asn1158=) c.3291C>T (p.Asn1097=) n.5827C>T c.1869+1605C>T (n.1869+1605C>T) c.3459C>T (p.Asn1153=) c.3471C>T (p.Asn1157=) c.3444C>T (p.Asn1148=) c.3390C>T (p.Asn1130=) c.2790C>T (p.Asn930=) c.3738C>T (p.Asn1246=) c.3735C>T (p.Asn1245=) c.3654C>T (p.Asn1218=) c.3585C>T (p.Asn1195=) c.3453C>T (p.Asn1151=) c.3321C>T (p.Asn1107=) | dbSNP |
20 | g.32436187A= | CA2360293578 | ASXL1 | c.3475A= (p.Ser1159=) c.3292A= (p.Ser1098=) n.5828A= c.1869+1606A= (n.1869+1606A=) c.3460A= (p.Ser1154=) c.3472A= (p.Ser1158=) c.3445A= (p.Ser1149=) c.3391A= (p.Ser1131=) c.2791A= (p.Ser931=) c.3739A= (p.Ser1247=) c.3736A= (p.Ser1246=) c.3655A= (p.Ser1219=) c.3586A= (p.Ser1196=) c.3454A= (p.Ser1152=) c.3322A= (p.Ser1108=) | |
20 | g.32436187A>C | CA408563134 | ASXL1 | c.3475A>C (p.Ser1159Arg) c.3292A>C (p.Ser1098Arg) n.5828A>C c.1869+1606A>C (n.1869+1606A>C) c.3460A>C (p.Ser1154Arg) c.3472A>C (p.Ser1158Arg) c.3445A>C (p.Ser1149Arg) c.3391A>C (p.Ser1131Arg) c.2791A>C (p.Ser931Arg) c.3739A>C (p.Ser1247Arg) c.3736A>C (p.Ser1246Arg) c.3655A>C (p.Ser1219Arg) c.3586A>C (p.Ser1196Arg) c.3454A>C (p.Ser1152Arg) c.3322A>C (p.Ser1108Arg) | |
20 | g.32436187A>G | CA408563135 | ASXL1 | c.3475A>G (p.Ser1159Gly) c.3292A>G (p.Ser1098Gly) n.5828A>G c.1869+1606A>G (n.1869+1606A>G) c.3460A>G (p.Ser1154Gly) c.3472A>G (p.Ser1158Gly) c.3445A>G (p.Ser1149Gly) c.3391A>G (p.Ser1131Gly) c.2791A>G (p.Ser931Gly) c.3739A>G (p.Ser1247Gly) c.3736A>G (p.Ser1246Gly) c.3655A>G (p.Ser1219Gly) c.3586A>G (p.Ser1196Gly) c.3454A>G (p.Ser1152Gly) c.3322A>G (p.Ser1108Gly) | dbSNP gnomAD v4 |
20 | g.32436187A>T | CA408563136 | ASXL1 | c.3475A>T (p.Ser1159Cys) c.3292A>T (p.Ser1098Cys) n.5828A>T c.1869+1606A>T (n.1869+1606A>T) c.3460A>T (p.Ser1154Cys) c.3472A>T (p.Ser1158Cys) c.3445A>T (p.Ser1149Cys) c.3391A>T (p.Ser1131Cys) c.2791A>T (p.Ser931Cys) c.3739A>T (p.Ser1247Cys) c.3736A>T (p.Ser1246Cys) c.3655A>T (p.Ser1219Cys) c.3586A>T (p.Ser1196Cys) c.3454A>T (p.Ser1152Cys) c.3322A>T (p.Ser1108Cys) | |
20 | g.32436188G>A | CA408563137 | ASXL1 | c.3476G>A (p.Ser1159Asn) c.3293G>A (p.Ser1098Asn) n.5829G>A c.1869+1607G>A (n.1869+1607G>A) c.3461G>A (p.Ser1154Asn) c.3473G>A (p.Ser1158Asn) c.3446G>A (p.Ser1149Asn) c.3392G>A (p.Ser1131Asn) c.2792G>A (p.Ser931Asn) c.3740G>A (p.Ser1247Asn) c.3737G>A (p.Ser1246Asn) c.3656G>A (p.Ser1219Asn) c.3587G>A (p.Ser1196Asn) c.3455G>A (p.Ser1152Asn) c.3323G>A (p.Ser1108Asn) | |
20 | g.32436188G>C | CA408563138 | ASXL1 | c.3476G>C (p.Ser1159Thr) c.3293G>C (p.Ser1098Thr) n.5829G>C c.1869+1607G>C (n.1869+1607G>C) c.3461G>C (p.Ser1154Thr) c.3473G>C (p.Ser1158Thr) c.3446G>C (p.Ser1149Thr) c.3392G>C (p.Ser1131Thr) c.2792G>C (p.Ser931Thr) c.3740G>C (p.Ser1247Thr) c.3737G>C (p.Ser1246Thr) c.3656G>C (p.Ser1219Thr) c.3587G>C (p.Ser1196Thr) c.3455G>C (p.Ser1152Thr) c.3323G>C (p.Ser1108Thr) | |
20 | g.32436188G>T | CA408563139 | ASXL1 | c.3476G>T (p.Ser1159Ile) c.3293G>T (p.Ser1098Ile) n.5829G>T c.1869+1607G>T (n.1869+1607G>T) c.3461G>T (p.Ser1154Ile) c.3473G>T (p.Ser1158Ile) c.3446G>T (p.Ser1149Ile) c.3392G>T (p.Ser1131Ile) c.2792G>T (p.Ser931Ile) c.3740G>T (p.Ser1247Ile) c.3737G>T (p.Ser1246Ile) c.3656G>T (p.Ser1219Ile) c.3587G>T (p.Ser1196Ile) c.3455G>T (p.Ser1152Ile) c.3323G>T (p.Ser1108Ile) | |
20 | g.32436189T>A | CA408563140 | ASXL1 | c.3477T>A (p.Ser1159Arg) c.3294T>A (p.Ser1098Arg) n.5830T>A c.1869+1608T>A (n.1869+1608T>A) c.3462T>A (p.Ser1154Arg) c.3474T>A (p.Ser1158Arg) c.3447T>A (p.Ser1149Arg) c.3393T>A (p.Ser1131Arg) c.2793T>A (p.Ser931Arg) c.3741T>A (p.Ser1247Arg) c.3738T>A (p.Ser1246Arg) c.3657T>A (p.Ser1219Arg) c.3588T>A (p.Ser1196Arg) c.3456T>A (p.Ser1152Arg) c.3324T>A (p.Ser1108Arg) | dbSNP |
20 | g.32436189T>C | CA510467274 | ASXL1 | c.3477T>C (p.Ser1159=) c.3294T>C (p.Ser1098=) n.5830T>C c.1869+1608T>C (n.1869+1608T>C) c.3462T>C (p.Ser1154=) c.3474T>C (p.Ser1158=) c.3447T>C (p.Ser1149=) c.3393T>C (p.Ser1131=) c.2793T>C (p.Ser931=) c.3741T>C (p.Ser1247=) c.3738T>C (p.Ser1246=) c.3657T>C (p.Ser1219=) c.3588T>C (p.Ser1196=) c.3456T>C (p.Ser1152=) c.3324T>C (p.Ser1108=) | |
20 | g.32436189T>G | CA408563141 | ASXL1 | c.3477T>G (p.Ser1159Arg) c.3294T>G (p.Ser1098Arg) n.5830T>G c.1869+1608T>G (n.1869+1608T>G) c.3462T>G (p.Ser1154Arg) c.3474T>G (p.Ser1158Arg) c.3447T>G (p.Ser1149Arg) c.3393T>G (p.Ser1131Arg) c.2793T>G (p.Ser931Arg) c.3741T>G (p.Ser1247Arg) c.3738T>G (p.Ser1246Arg) c.3657T>G (p.Ser1219Arg) c.3588T>G (p.Ser1196Arg) c.3456T>G (p.Ser1152Arg) c.3324T>G (p.Ser1108Arg) | |
20 | g.32436192_32436196del | CA2577366305 | ASXL1 | c.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) | |
20 | g.32436190G>A | CA408563143 | ASXL1 | c.3478G>A (p.Gly1160Ser) c.3295G>A (p.Gly1099Ser) n.5831G>A c.1869+1609G>A (n.1869+1609G>A) c.3463G>A (p.Gly1155Ser) c.3475G>A (p.Gly1159Ser) c.3448G>A (p.Gly1150Ser) c.3394G>A (p.Gly1132Ser) c.2794G>A (p.Gly932Ser) c.3742G>A (p.Gly1248Ser) c.3739G>A (p.Gly1247Ser) c.3658G>A (p.Gly1220Ser) c.3589G>A (p.Gly1197Ser) c.3457G>A (p.Gly1153Ser) c.3325G>A (p.Gly1109Ser) | |
20 | g.32436190G>C | CA408563144 | ASXL1 | c.3478G>C (p.Gly1160Arg) c.3295G>C (p.Gly1099Arg) n.5831G>C c.1869+1609G>C (n.1869+1609G>C) c.3463G>C (p.Gly1155Arg) c.3475G>C (p.Gly1159Arg) c.3448G>C (p.Gly1150Arg) c.3394G>C (p.Gly1132Arg) c.2794G>C (p.Gly932Arg) c.3742G>C (p.Gly1248Arg) c.3739G>C (p.Gly1247Arg) c.3658G>C (p.Gly1220Arg) c.3589G>C (p.Gly1197Arg) c.3457G>C (p.Gly1153Arg) c.3325G>C (p.Gly1109Arg) | dbSNP |
20 | g.32436190G>T | CA408563142 | ASXL1 | c.3478G>T (p.Gly1160Cys) c.3295G>T (p.Gly1099Cys) n.5831G>T c.1869+1609G>T (n.1869+1609G>T) c.3463G>T (p.Gly1155Cys) c.3475G>T (p.Gly1159Cys) c.3448G>T (p.Gly1150Cys) c.3394G>T (p.Gly1132Cys) c.2794G>T (p.Gly932Cys) c.3742G>T (p.Gly1248Cys) c.3739G>T (p.Gly1247Cys) c.3658G>T (p.Gly1220Cys) c.3589G>T (p.Gly1197Cys) c.3457G>T (p.Gly1153Cys) c.3325G>T (p.Gly1109Cys) | |
20 | g.32436191G>A | CA408563145 | ASXL1 | c.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 |
20 | g.32436191G>C | CA408563146 | ASXL1 | c.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 |
20 | g.32436191G>T | CA408563147 | ASXL1 | c.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) | |
20 | g.32436192C>A | CA510467275 | ASXL1 | c.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=) | |
20 | g.32436192C= | CA2360293579 | ASXL1 | c.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=) | |
20 | g.32436192C>G | CA510467276 | ASXL1 | c.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=) | |
20 | g.32436192C>T | CA9808836 | ASXL1 | c.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 |
20 | g.32436193A= | CA2360293580 | ASXL1 | c.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=) | |
20 | g.32436193A>C | CA408563148 | ASXL1 | c.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) | |
20 | g.32436193A>G | CA408563149 | ASXL1 | c.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 |
20 | g.32436193A>T | CA408563150 | ASXL1 | c.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) | |
20 | g.32436194T>A | CA408563151 | ASXL1 | c.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) | |
20 | g.32436194T>C | CA9808837 | ASXL1 | c.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 |
20 | g.32436194T>G | CA408563152 | ASXL1 | c.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) | |
20 | g.32436194T= | CA2360293581 | ASXL1 | c.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=) | |
20 | g.32436195G>A | CA408563153 | ASXL1 | c.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 |
20 | g.32436195G>C | CA408563154 | ASXL1 | c.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) | |
20 | g.32436195G= | CA2360293582 | ASXL1 | c.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=) | |
20 | g.32436195G>T | CA408563155 | ASXL1 | c.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) | |
20 | g.32436196G>A | CA408563158 | ASXL1 | c.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 |
20 | g.32436196G>C | CA408563157 | ASXL1 | c.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) | |
20 | g.32436196G>T | CA408563156 | ASXL1 | c.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) | |
20 | g.32436197T>A | CA408563159 | ASXL1 | c.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) | |
20 | g.32436197T>C | CA408563160 | ASXL1 | c.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) | |
20 | g.32436197T>G | CA408563161 | ASXL1 | c.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) | |
20 | g.32436198T>A | CA510467277 | ASXL1 | c.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=) | |
20 | g.32436198T>C | CA510467278 | ASXL1 | c.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=) | |
20 | g.32436198T>G | CA9808838 | ASXL1 | c.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 |
20 | g.32436198T= | CA2360293583 | ASXL1 | c.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=) | |
20 | g.32436199G>A | CA9808839 | ASXL1 | c.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 |
20 | g.32436199G>C | CA408563162 | ASXL1 | c.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) | |
20 | g.32436199G= | CA2360293584 | ASXL1 | c.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=) | |
20 | g.32436199G>T | CA408563163 | ASXL1 | c.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) | |
20 | g.32436200A= | CA2360293585 | ASXL1 | c.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=) | |
20 | g.32436200A>C | CA408563164 | ASXL1 | c.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) | |
20 | g.32436200A>G | CA9808840 | ASXL1 | c.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 |
20 | g.32436200A>T | CA408563165 | ASXL1 | c.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) | |
20 | g.32436201T>A | CA408563166 | ASXL1 | c.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) | |
20 | g.32436201T>C | CA510467279 | ASXL1 | c.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=) | |
20 | g.32436201T>G | CA408563167 | ASXL1 | c.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) | |
20 | g.32436202G>A | CA408563170 | ASXL1 | c.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 |
20 | g.32436202G>C | CA408563169 | ASXL1 | c.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 |
20 | g.32436202G>T | CA408563168 | ASXL1 | c.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) | |
20 | g.32436203G>A | CA408563171 | ASXL1 | c.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 |
20 | g.32436203G>C | CA408563173 | ASXL1 | c.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) | |
20 | g.32436203G= | CA2360293586 | ASXL1 | c.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=) | |
20 | g.32436203G>T | CA408563172 | ASXL1 | c.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 |
20 | g.32436204A= | CA2360293587 | ASXL1 | c.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=) | |
20 | g.32436204A>C | CA510467280 | ASXL1 | c.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=) | |
20 | g.32436204A>G | CA510467281 | ASXL1 | c.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=) | |
20 | g.32436204A>T | CA510467282 | ASXL1 | c.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 |
20 | g.32436205A>C | CA408563174 | ASXL1 | c.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) | |
20 | g.32436205A>G | CA408563176 | ASXL1 | c.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) | |
20 | g.32436205A>T | CA408563175 | ASXL1 | c.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) | |
20 | g.32436206G>A | CA408563177 | ASXL1 | c.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) | |
20 | g.32436206G>C | CA408563178 | ASXL1 | c.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) | |
20 | g.32436206G>T | CA408563179 | ASXL1 | c.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) | |
20 | g.32436207C>A | CA408563180 | ASXL1 | c.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) | |
20 | g.32436207C>G | CA408563181 | ASXL1 | c.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) | |
20 | g.32436207C>T | CA510467283 | ASXL1 | c.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 |
20 | g.32436208A>C | CA408563182 | ASXL1 | c.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) | |
20 | g.32436208A>G | CA408563183 | ASXL1 | c.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) | |
20 | g.32436208A>T | CA408563184 | ASXL1 | c.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) | |
20 | g.32436209G>A | CA408563185 | ASXL1 | c.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 |
20 | g.32436209G>C | CA408563186 | ASXL1 | c.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) | |
20 | g.32436209G>T | CA408563187 | ASXL1 | c.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) | |
20 | g.32436210C>A | CA408563188 | ASXL1 | c.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) | |
20 | g.32436210C= | CA2360293588 | ASXL1 | c.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=) | |
20 | g.32436210C>G | CA157005 | ASXL1 | c.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 |
20 | g.32436210C>T | CA510467284 | ASXL1 | c.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 |
20 | g.32436210_32436211insGGGCCCAGAGAAT | CA891842350 | ASXL1 | c.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) | |
20 | g.32436211C>A | CA408563189 | ASXL1 | c.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 |
20 | g.32436211C= | CA2360293589 | ASXL1 | c.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=) | |
20 | g.32436211C>G | CA408563190 | ASXL1 | c.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 |
20 | g.32436211C>T | CA408563191 | ASXL1 | c.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) |