| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32436247C>A | CA408563266 | ASXL1 | c.3535C>A (p.Pro1179Thr) c.3352C>A (p.Pro1118Thr) n.5888C>A c.1869+1666C>A (n.1869+1666C>A) c.3520C>A (p.Pro1174Thr) c.3532C>A (p.Pro1178Thr) c.3505C>A (p.Pro1169Thr) c.3451C>A (p.Pro1151Thr) c.2851C>A (p.Pro951Thr) c.3799C>A (p.Pro1267Thr) c.3796C>A (p.Pro1266Thr) c.3715C>A (p.Pro1239Thr) c.3646C>A (p.Pro1216Thr) c.3514C>A (p.Pro1172Thr) c.3382C>A (p.Pro1128Thr) | dbSNP |
| 20 | g.32436247C>G | CA408563267 | ASXL1 | c.3535C>G (p.Pro1179Ala) c.3352C>G (p.Pro1118Ala) n.5888C>G c.1869+1666C>G (n.1869+1666C>G) c.3520C>G (p.Pro1174Ala) c.3532C>G (p.Pro1178Ala) c.3505C>G (p.Pro1169Ala) c.3451C>G (p.Pro1151Ala) c.2851C>G (p.Pro951Ala) c.3799C>G (p.Pro1267Ala) c.3796C>G (p.Pro1266Ala) c.3715C>G (p.Pro1239Ala) c.3646C>G (p.Pro1216Ala) c.3514C>G (p.Pro1172Ala) c.3382C>G (p.Pro1128Ala) | dbSNP |
| 20 | g.32436247C>T | CA408563268 | ASXL1 | c.3535C>T (p.Pro1179Ser) c.3352C>T (p.Pro1118Ser) n.5888C>T c.1869+1666C>T (n.1869+1666C>T) c.3520C>T (p.Pro1174Ser) c.3532C>T (p.Pro1178Ser) c.3505C>T (p.Pro1169Ser) c.3451C>T (p.Pro1151Ser) c.2851C>T (p.Pro951Ser) c.3799C>T (p.Pro1267Ser) c.3796C>T (p.Pro1266Ser) c.3715C>T (p.Pro1239Ser) c.3646C>T (p.Pro1216Ser) c.3514C>T (p.Pro1172Ser) c.3382C>T (p.Pro1128Ser) | dbSNP |
| 20 | g.32436248C>A | CA408563270 | ASXL1 | c.3536C>A (p.Pro1179Gln) c.3353C>A (p.Pro1118Gln) n.5889C>A c.1869+1667C>A (n.1869+1667C>A) c.3521C>A (p.Pro1174Gln) c.3533C>A (p.Pro1178Gln) c.3506C>A (p.Pro1169Gln) c.3452C>A (p.Pro1151Gln) c.2852C>A (p.Pro951Gln) c.3800C>A (p.Pro1267Gln) c.3797C>A (p.Pro1266Gln) c.3716C>A (p.Pro1239Gln) c.3647C>A (p.Pro1216Gln) c.3515C>A (p.Pro1172Gln) c.3383C>A (p.Pro1128Gln) | |
| 20 | g.32436248C>G | CA408563271 | ASXL1 | c.3536C>G (p.Pro1179Arg) c.3353C>G (p.Pro1118Arg) n.5889C>G c.1869+1667C>G (n.1869+1667C>G) c.3521C>G (p.Pro1174Arg) c.3533C>G (p.Pro1178Arg) c.3506C>G (p.Pro1169Arg) c.3452C>G (p.Pro1151Arg) c.2852C>G (p.Pro951Arg) c.3800C>G (p.Pro1267Arg) c.3797C>G (p.Pro1266Arg) c.3716C>G (p.Pro1239Arg) c.3647C>G (p.Pro1216Arg) c.3515C>G (p.Pro1172Arg) c.3383C>G (p.Pro1128Arg) | |
| 20 | g.32436248C>T | CA408563269 | ASXL1 | c.3536C>T (p.Pro1179Leu) c.3353C>T (p.Pro1118Leu) n.5889C>T c.1869+1667C>T (n.1869+1667C>T) c.3521C>T (p.Pro1174Leu) c.3533C>T (p.Pro1178Leu) c.3506C>T (p.Pro1169Leu) c.3452C>T (p.Pro1151Leu) c.2852C>T (p.Pro951Leu) c.3800C>T (p.Pro1267Leu) c.3797C>T (p.Pro1266Leu) c.3716C>T (p.Pro1239Leu) c.3647C>T (p.Pro1216Leu) c.3515C>T (p.Pro1172Leu) c.3383C>T (p.Pro1128Leu) | |
| 20 | g.32436249A= | CA2360293609 | ASXL1 | c.3537A= (p.Pro1179=) c.3354A= (p.Pro1118=) n.5890A= c.1869+1668A= (n.1869+1668A=) c.3522A= (p.Pro1174=) c.3534A= (p.Pro1178=) c.3507A= (p.Pro1169=) c.3453A= (p.Pro1151=) c.2853A= (p.Pro951=) c.3801A= (p.Pro1267=) c.3798A= (p.Pro1266=) c.3717A= (p.Pro1239=) c.3648A= (p.Pro1216=) c.3516A= (p.Pro1172=) c.3384A= (p.Pro1128=) | |
| 20 | g.32436249A>C | CA510467334 | ASXL1 | c.3537A>C (p.Pro1179=) c.3354A>C (p.Pro1118=) n.5890A>C c.1869+1668A>C (n.1869+1668A>C) c.3522A>C (p.Pro1174=) c.3534A>C (p.Pro1178=) c.3507A>C (p.Pro1169=) c.3453A>C (p.Pro1151=) c.2853A>C (p.Pro951=) c.3801A>C (p.Pro1267=) c.3798A>C (p.Pro1266=) c.3717A>C (p.Pro1239=) c.3648A>C (p.Pro1216=) c.3516A>C (p.Pro1172=) c.3384A>C (p.Pro1128=) | |
| 20 | g.32436249A>G | CA313926348 | ASXL1 | c.3537A>G (p.Pro1179=) c.3354A>G (p.Pro1118=) n.5890A>G c.1869+1668A>G (n.1869+1668A>G) c.3522A>G (p.Pro1174=) c.3534A>G (p.Pro1178=) c.3507A>G (p.Pro1169=) c.3453A>G (p.Pro1151=) c.2853A>G (p.Pro951=) c.3801A>G (p.Pro1267=) c.3798A>G (p.Pro1266=) c.3717A>G (p.Pro1239=) c.3648A>G (p.Pro1216=) c.3516A>G (p.Pro1172=) c.3384A>G (p.Pro1128=) | dbSNP gnomAD v4 |
| 20 | g.32436249A>T | CA510467331 | ASXL1 | c.3537A>T (p.Pro1179=) c.3354A>T (p.Pro1118=) n.5890A>T c.1869+1668A>T (n.1869+1668A>T) c.3522A>T (p.Pro1174=) c.3534A>T (p.Pro1178=) c.3507A>T (p.Pro1169=) c.3453A>T (p.Pro1151=) c.2853A>T (p.Pro951=) c.3801A>T (p.Pro1267=) c.3798A>T (p.Pro1266=) c.3717A>T (p.Pro1239=) c.3648A>T (p.Pro1216=) c.3516A>T (p.Pro1172=) c.3384A>T (p.Pro1128=) | |
| 20 | g.32436250G>A | CA9808847 | ASXL1 | c.3538G>A (p.Asp1180Asn) c.3355G>A (p.Asp1119Asn) n.5891G>A c.1869+1669G>A (n.1869+1669G>A) c.3523G>A (p.Asp1175Asn) c.3535G>A (p.Asp1179Asn) c.3508G>A (p.Asp1170Asn) c.3454G>A (p.Asp1152Asn) c.2854G>A (p.Asp952Asn) c.3802G>A (p.Asp1268Asn) c.3799G>A (p.Asp1267Asn) c.3718G>A (p.Asp1240Asn) c.3649G>A (p.Asp1217Asn) c.3517G>A (p.Asp1173Asn) c.3385G>A (p.Asp1129Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.32436250G>C | CA408563272 | ASXL1 | c.3538G>C (p.Asp1180His) c.3355G>C (p.Asp1119His) n.5891G>C c.1869+1669G>C (n.1869+1669G>C) c.3523G>C (p.Asp1175His) c.3535G>C (p.Asp1179His) c.3508G>C (p.Asp1170His) c.3454G>C (p.Asp1152His) c.2854G>C (p.Asp952His) c.3802G>C (p.Asp1268His) c.3799G>C (p.Asp1267His) c.3718G>C (p.Asp1240His) c.3649G>C (p.Asp1217His) c.3517G>C (p.Asp1173His) c.3385G>C (p.Asp1129His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.32436250G= | CA2360293610 | ASXL1 | c.3538G= (p.Asp1180=) c.3355G= (p.Asp1119=) n.5891G= c.1869+1669G= (n.1869+1669G=) c.3523G= (p.Asp1175=) c.3535G= (p.Asp1179=) c.3508G= (p.Asp1170=) c.3454G= (p.Asp1152=) c.2854G= (p.Asp952=) c.3802G= (p.Asp1268=) c.3799G= (p.Asp1267=) c.3718G= (p.Asp1240=) c.3649G= (p.Asp1217=) c.3517G= (p.Asp1173=) c.3385G= (p.Asp1129=) | |
| 20 | g.32436250G>T | CA408563273 | ASXL1 | c.3538G>T (p.Asp1180Tyr) c.3355G>T (p.Asp1119Tyr) n.5891G>T c.1869+1669G>T (n.1869+1669G>T) c.3523G>T (p.Asp1175Tyr) c.3535G>T (p.Asp1179Tyr) c.3508G>T (p.Asp1170Tyr) c.3454G>T (p.Asp1152Tyr) c.2854G>T (p.Asp952Tyr) c.3802G>T (p.Asp1268Tyr) c.3799G>T (p.Asp1267Tyr) c.3718G>T (p.Asp1240Tyr) c.3649G>T (p.Asp1217Tyr) c.3517G>T (p.Asp1173Tyr) c.3385G>T (p.Asp1129Tyr) | |
| 20 | g.32436251A= | CA2360293611 | ASXL1 | c.3539A= (p.Asp1180=) c.3356A= (p.Asp1119=) n.5892A= c.1869+1670A= (n.1869+1670A=) c.3524A= (p.Asp1175=) c.3536A= (p.Asp1179=) c.3509A= (p.Asp1170=) c.3455A= (p.Asp1152=) c.2855A= (p.Asp952=) c.3803A= (p.Asp1268=) c.3800A= (p.Asp1267=) c.3719A= (p.Asp1240=) c.3650A= (p.Asp1217=) c.3518A= (p.Asp1173=) c.3386A= (p.Asp1129=) | |
| 20 | g.32436251A>C | CA408563275 | ASXL1 | c.3539A>C (p.Asp1180Ala) c.3356A>C (p.Asp1119Ala) n.5892A>C c.1869+1670A>C (n.1869+1670A>C) c.3524A>C (p.Asp1175Ala) c.3536A>C (p.Asp1179Ala) c.3509A>C (p.Asp1170Ala) c.3455A>C (p.Asp1152Ala) c.2855A>C (p.Asp952Ala) c.3803A>C (p.Asp1268Ala) c.3800A>C (p.Asp1267Ala) c.3719A>C (p.Asp1240Ala) c.3650A>C (p.Asp1217Ala) c.3518A>C (p.Asp1173Ala) c.3386A>C (p.Asp1129Ala) | |
| 20 | g.32436251A>G | CA9808848 | ASXL1 | c.3539A>G (p.Asp1180Gly) c.3356A>G (p.Asp1119Gly) n.5892A>G c.1869+1670A>G (n.1869+1670A>G) c.3524A>G (p.Asp1175Gly) c.3536A>G (p.Asp1179Gly) c.3509A>G (p.Asp1170Gly) c.3455A>G (p.Asp1152Gly) c.2855A>G (p.Asp952Gly) c.3803A>G (p.Asp1268Gly) c.3800A>G (p.Asp1267Gly) c.3719A>G (p.Asp1240Gly) c.3650A>G (p.Asp1217Gly) c.3518A>G (p.Asp1173Gly) c.3386A>G (p.Asp1129Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.32436251A>T | CA408563274 | ASXL1 | c.3539A>T (p.Asp1180Val) c.3356A>T (p.Asp1119Val) n.5892A>T c.1869+1670A>T (n.1869+1670A>T) c.3524A>T (p.Asp1175Val) c.3536A>T (p.Asp1179Val) c.3509A>T (p.Asp1170Val) c.3455A>T (p.Asp1152Val) c.2855A>T (p.Asp952Val) c.3803A>T (p.Asp1268Val) c.3800A>T (p.Asp1267Val) c.3719A>T (p.Asp1240Val) c.3650A>T (p.Asp1217Val) c.3518A>T (p.Asp1173Val) c.3386A>T (p.Asp1129Val) | |
| 20 | g.32436252T>A | CA408563276 | ASXL1 | c.3540T>A (p.Asp1180Glu) c.3357T>A (p.Asp1119Glu) n.5893T>A c.1869+1671T>A (n.1869+1671T>A) c.3525T>A (p.Asp1175Glu) c.3537T>A (p.Asp1179Glu) c.3510T>A (p.Asp1170Glu) c.3456T>A (p.Asp1152Glu) c.2856T>A (p.Asp952Glu) c.3804T>A (p.Asp1268Glu) c.3801T>A (p.Asp1267Glu) c.3720T>A (p.Asp1240Glu) c.3651T>A (p.Asp1217Glu) c.3519T>A (p.Asp1173Glu) c.3387T>A (p.Asp1129Glu) | |
| 20 | g.32436252T>C | CA9808849 | ASXL1 | c.3540T>C (p.Asp1180=) c.3357T>C (p.Asp1119=) n.5893T>C c.1869+1671T>C (n.1869+1671T>C) c.3525T>C (p.Asp1175=) c.3537T>C (p.Asp1179=) c.3510T>C (p.Asp1170=) c.3456T>C (p.Asp1152=) c.2856T>C (p.Asp952=) c.3804T>C (p.Asp1268=) c.3801T>C (p.Asp1267=) c.3720T>C (p.Asp1240=) c.3651T>C (p.Asp1217=) c.3519T>C (p.Asp1173=) c.3387T>C (p.Asp1129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.32436252T>G | CA9808850 | ASXL1 | c.3540T>G (p.Asp1180Glu) c.3357T>G (p.Asp1119Glu) n.5893T>G c.1869+1671T>G (n.1869+1671T>G) c.3525T>G (p.Asp1175Glu) c.3537T>G (p.Asp1179Glu) c.3510T>G (p.Asp1170Glu) c.3456T>G (p.Asp1152Glu) c.2856T>G (p.Asp952Glu) c.3804T>G (p.Asp1268Glu) c.3801T>G (p.Asp1267Glu) c.3720T>G (p.Asp1240Glu) c.3651T>G (p.Asp1217Glu) c.3519T>G (p.Asp1173Glu) c.3387T>G (p.Asp1129Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.32436252T= | CA2360293612 | ASXL1 | c.3540T= (p.Asp1180=) c.3357T= (p.Asp1119=) n.5893T= c.1869+1671T= (n.1869+1671T=) c.3525T= (p.Asp1175=) c.3537T= (p.Asp1179=) c.3510T= (p.Asp1170=) c.3456T= (p.Asp1152=) c.2856T= (p.Asp952=) c.3804T= (p.Asp1268=) c.3801T= (p.Asp1267=) c.3720T= (p.Asp1240=) c.3651T= (p.Asp1217=) c.3519T= (p.Asp1173=) c.3387T= (p.Asp1129=) | |
| 20 | g.32436253A= | CA2360293613 | ASXL1 | c.3541A= (p.Ser1181=) c.3358A= (p.Ser1120=) n.5894A= c.1869+1672A= (n.1869+1672A=) c.3526A= (p.Ser1176=) c.3538A= (p.Ser1180=) c.3511A= (p.Ser1171=) c.3457A= (p.Ser1153=) c.2857A= (p.Ser953=) c.3805A= (p.Ser1269=) c.3802A= (p.Ser1268=) c.3721A= (p.Ser1241=) c.3652A= (p.Ser1218=) c.3520A= (p.Ser1174=) c.3388A= (p.Ser1130=) | |
| 20 | g.32436253A>C | CA313926349 | ASXL1 | c.3541A>C (p.Ser1181Arg) c.3358A>C (p.Ser1120Arg) n.5894A>C c.1869+1672A>C (n.1869+1672A>C) c.3526A>C (p.Ser1176Arg) c.3538A>C (p.Ser1180Arg) c.3511A>C (p.Ser1171Arg) c.3457A>C (p.Ser1153Arg) c.2857A>C (p.Ser953Arg) c.3805A>C (p.Ser1269Arg) c.3802A>C (p.Ser1268Arg) c.3721A>C (p.Ser1241Arg) c.3652A>C (p.Ser1218Arg) c.3520A>C (p.Ser1174Arg) c.3388A>C (p.Ser1130Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.32436253A>G | CA408563277 | ASXL1 | c.3541A>G (p.Ser1181Gly) c.3358A>G (p.Ser1120Gly) n.5894A>G c.1869+1672A>G (n.1869+1672A>G) c.3526A>G (p.Ser1176Gly) c.3538A>G (p.Ser1180Gly) c.3511A>G (p.Ser1171Gly) c.3457A>G (p.Ser1153Gly) c.2857A>G (p.Ser953Gly) c.3805A>G (p.Ser1269Gly) c.3802A>G (p.Ser1268Gly) c.3721A>G (p.Ser1241Gly) c.3652A>G (p.Ser1218Gly) c.3520A>G (p.Ser1174Gly) c.3388A>G (p.Ser1130Gly) | |
| 20 | g.32436253A>T | CA408563278 | ASXL1 | c.3541A>T (p.Ser1181Cys) c.3358A>T (p.Ser1120Cys) n.5894A>T c.1869+1672A>T (n.1869+1672A>T) c.3526A>T (p.Ser1176Cys) c.3538A>T (p.Ser1180Cys) c.3511A>T (p.Ser1171Cys) c.3457A>T (p.Ser1153Cys) c.2857A>T (p.Ser953Cys) c.3805A>T (p.Ser1269Cys) c.3802A>T (p.Ser1268Cys) c.3721A>T (p.Ser1241Cys) c.3652A>T (p.Ser1218Cys) c.3520A>T (p.Ser1174Cys) c.3388A>T (p.Ser1130Cys) | |
| 20 | g.32436254G>A | CA408563281 | ASXL1 | c.3542G>A (p.Ser1181Asn) c.3359G>A (p.Ser1120Asn) n.5895G>A c.1869+1673G>A (n.1869+1673G>A) c.3527G>A (p.Ser1176Asn) c.3539G>A (p.Ser1180Asn) c.3512G>A (p.Ser1171Asn) c.3458G>A (p.Ser1153Asn) c.2858G>A (p.Ser953Asn) c.3806G>A (p.Ser1269Asn) c.3803G>A (p.Ser1268Asn) c.3722G>A (p.Ser1241Asn) c.3653G>A (p.Ser1218Asn) c.3521G>A (p.Ser1174Asn) c.3389G>A (p.Ser1130Asn) | dbSNP gnomAD v4 |
| 20 | g.32436254G>C | CA408563280 | ASXL1 | c.3542G>C (p.Ser1181Thr) c.3359G>C (p.Ser1120Thr) n.5895G>C c.1869+1673G>C (n.1869+1673G>C) c.3527G>C (p.Ser1176Thr) c.3539G>C (p.Ser1180Thr) c.3512G>C (p.Ser1171Thr) c.3458G>C (p.Ser1153Thr) c.2858G>C (p.Ser953Thr) c.3806G>C (p.Ser1269Thr) c.3803G>C (p.Ser1268Thr) c.3722G>C (p.Ser1241Thr) c.3653G>C (p.Ser1218Thr) c.3521G>C (p.Ser1174Thr) c.3389G>C (p.Ser1130Thr) | |
| 20 | g.32436254G= | CA2360293614 | ASXL1 | c.3542G= (p.Ser1181=) c.3359G= (p.Ser1120=) n.5895G= c.1869+1673G= (n.1869+1673G=) c.3527G= (p.Ser1176=) c.3539G= (p.Ser1180=) c.3512G= (p.Ser1171=) c.3458G= (p.Ser1153=) c.2858G= (p.Ser953=) c.3806G= (p.Ser1269=) c.3803G= (p.Ser1268=) c.3722G= (p.Ser1241=) c.3653G= (p.Ser1218=) c.3521G= (p.Ser1174=) c.3389G= (p.Ser1130=) | |
| 20 | g.32436254G>T | CA408563279 | ASXL1 | c.3542G>T (p.Ser1181Ile) c.3359G>T (p.Ser1120Ile) n.5895G>T c.1869+1673G>T (n.1869+1673G>T) c.3527G>T (p.Ser1176Ile) c.3539G>T (p.Ser1180Ile) c.3512G>T (p.Ser1171Ile) c.3458G>T (p.Ser1153Ile) c.2858G>T (p.Ser953Ile) c.3806G>T (p.Ser1269Ile) c.3803G>T (p.Ser1268Ile) c.3722G>T (p.Ser1241Ile) c.3653G>T (p.Ser1218Ile) c.3521G>T (p.Ser1174Ile) c.3389G>T (p.Ser1130Ile) | |
| 20 | g.32436255C>A | CA408563282 | ASXL1 | c.3543C>A (p.Ser1181Arg) c.3360C>A (p.Ser1120Arg) n.5896C>A c.1869+1674C>A (n.1869+1674C>A) c.3528C>A (p.Ser1176Arg) c.3540C>A (p.Ser1180Arg) c.3513C>A (p.Ser1171Arg) c.3459C>A (p.Ser1153Arg) c.2859C>A (p.Ser953Arg) c.3807C>A (p.Ser1269Arg) c.3804C>A (p.Ser1268Arg) c.3723C>A (p.Ser1241Arg) c.3654C>A (p.Ser1218Arg) c.3522C>A (p.Ser1174Arg) c.3390C>A (p.Ser1130Arg) | |
| 20 | g.32436255C>G | CA408563283 | ASXL1 | c.3543C>G (p.Ser1181Arg) c.3360C>G (p.Ser1120Arg) n.5896C>G c.1869+1674C>G (n.1869+1674C>G) c.3528C>G (p.Ser1176Arg) c.3540C>G (p.Ser1180Arg) c.3513C>G (p.Ser1171Arg) c.3459C>G (p.Ser1153Arg) c.2859C>G (p.Ser953Arg) c.3807C>G (p.Ser1269Arg) c.3804C>G (p.Ser1268Arg) c.3723C>G (p.Ser1241Arg) c.3654C>G (p.Ser1218Arg) c.3522C>G (p.Ser1174Arg) c.3390C>G (p.Ser1130Arg) | |
| 20 | g.32436255C>T | CA510467340 | ASXL1 | c.3543C>T (p.Ser1181=) c.3360C>T (p.Ser1120=) n.5896C>T c.1869+1674C>T (n.1869+1674C>T) c.3528C>T (p.Ser1176=) c.3540C>T (p.Ser1180=) c.3513C>T (p.Ser1171=) c.3459C>T (p.Ser1153=) c.2859C>T (p.Ser953=) c.3807C>T (p.Ser1269=) c.3804C>T (p.Ser1268=) c.3723C>T (p.Ser1241=) c.3654C>T (p.Ser1218=) c.3522C>T (p.Ser1174=) c.3390C>T (p.Ser1130=) | dbSNP |
| 20 | g.32436256T>A | CA408563284 | ASXL1 | c.3544T>A (p.Cys1182Ser) c.3361T>A (p.Cys1121Ser) n.5897T>A c.1869+1675T>A (n.1869+1675T>A) c.3529T>A (p.Cys1177Ser) c.3541T>A (p.Cys1181Ser) c.3514T>A (p.Cys1172Ser) c.3460T>A (p.Cys1154Ser) c.2860T>A (p.Cys954Ser) c.3808T>A (p.Cys1270Ser) c.3805T>A (p.Cys1269Ser) c.3724T>A (p.Cys1242Ser) c.3655T>A (p.Cys1219Ser) c.3523T>A (p.Cys1175Ser) c.3391T>A (p.Cys1131Ser) | |
| 20 | g.32436256T>C | CA408563286 | ASXL1 | c.3544T>C (p.Cys1182Arg) c.3361T>C (p.Cys1121Arg) n.5897T>C c.1869+1675T>C (n.1869+1675T>C) c.3529T>C (p.Cys1177Arg) c.3541T>C (p.Cys1181Arg) c.3514T>C (p.Cys1172Arg) c.3460T>C (p.Cys1154Arg) c.2860T>C (p.Cys954Arg) c.3808T>C (p.Cys1270Arg) c.3805T>C (p.Cys1269Arg) c.3724T>C (p.Cys1242Arg) c.3655T>C (p.Cys1219Arg) c.3523T>C (p.Cys1175Arg) c.3391T>C (p.Cys1131Arg) | |
| 20 | g.32436256T>G | CA408563285 | ASXL1 | c.3544T>G (p.Cys1182Gly) c.3361T>G (p.Cys1121Gly) n.5897T>G c.1869+1675T>G (n.1869+1675T>G) c.3529T>G (p.Cys1177Gly) c.3541T>G (p.Cys1181Gly) c.3514T>G (p.Cys1172Gly) c.3460T>G (p.Cys1154Gly) c.2860T>G (p.Cys954Gly) c.3808T>G (p.Cys1270Gly) c.3805T>G (p.Cys1269Gly) c.3724T>G (p.Cys1242Gly) c.3655T>G (p.Cys1219Gly) c.3523T>G (p.Cys1175Gly) c.3391T>G (p.Cys1131Gly) | |
| 20 | g.32436257G>A | CA408563287 | ASXL1 | c.3545G>A (p.Cys1182Tyr) c.3362G>A (p.Cys1121Tyr) n.5898G>A c.1869+1676G>A (n.1869+1676G>A) c.3530G>A (p.Cys1177Tyr) c.3542G>A (p.Cys1181Tyr) c.3515G>A (p.Cys1172Tyr) c.3461G>A (p.Cys1154Tyr) c.2861G>A (p.Cys954Tyr) c.3809G>A (p.Cys1270Tyr) c.3806G>A (p.Cys1269Tyr) c.3725G>A (p.Cys1242Tyr) c.3656G>A (p.Cys1219Tyr) c.3524G>A (p.Cys1175Tyr) c.3392G>A (p.Cys1131Tyr) | gnomAD v4 |
| 20 | g.32436257G>C | CA408563289 | ASXL1 | c.3545G>C (p.Cys1182Ser) c.3362G>C (p.Cys1121Ser) n.5898G>C c.1869+1676G>C (n.1869+1676G>C) c.3530G>C (p.Cys1177Ser) c.3542G>C (p.Cys1181Ser) c.3515G>C (p.Cys1172Ser) c.3461G>C (p.Cys1154Ser) c.2861G>C (p.Cys954Ser) c.3809G>C (p.Cys1270Ser) c.3806G>C (p.Cys1269Ser) c.3725G>C (p.Cys1242Ser) c.3656G>C (p.Cys1219Ser) c.3524G>C (p.Cys1175Ser) c.3392G>C (p.Cys1131Ser) | dbSNP |
| 20 | g.32436257G>T | CA408563288 | ASXL1 | c.3545G>T (p.Cys1182Phe) c.3362G>T (p.Cys1121Phe) n.5898G>T c.1869+1676G>T (n.1869+1676G>T) c.3530G>T (p.Cys1177Phe) c.3542G>T (p.Cys1181Phe) c.3515G>T (p.Cys1172Phe) c.3461G>T (p.Cys1154Phe) c.2861G>T (p.Cys954Phe) c.3809G>T (p.Cys1270Phe) c.3806G>T (p.Cys1269Phe) c.3725G>T (p.Cys1242Phe) c.3656G>T (p.Cys1219Phe) c.3524G>T (p.Cys1175Phe) c.3392G>T (p.Cys1131Phe) | |
| 20 | g.32436258T>A | CA408563290 | ASXL1 | c.3546T>A (p.Cys1182Ter) c.3363T>A (p.Cys1121Ter) n.5899T>A c.1869+1677T>A (n.1869+1677T>A) c.3531T>A (p.Cys1177Ter) c.3543T>A (p.Cys1181Ter) c.3516T>A (p.Cys1172Ter) c.3462T>A (p.Cys1154Ter) c.2862T>A (p.Cys954Ter) c.3810T>A (p.Cys1270Ter) c.3807T>A (p.Cys1269Ter) c.3726T>A (p.Cys1242Ter) c.3657T>A (p.Cys1219Ter) c.3525T>A (p.Cys1175Ter) c.3393T>A (p.Cys1131Ter) | |
| 20 | g.32436258T>C | CA510467294 | ASXL1 | c.3546T>C (p.Cys1182=) c.3363T>C (p.Cys1121=) n.5899T>C c.1869+1677T>C (n.1869+1677T>C) c.3531T>C (p.Cys1177=) c.3543T>C (p.Cys1181=) c.3516T>C (p.Cys1172=) c.3462T>C (p.Cys1154=) c.2862T>C (p.Cys954=) c.3810T>C (p.Cys1270=) c.3807T>C (p.Cys1269=) c.3726T>C (p.Cys1242=) c.3657T>C (p.Cys1219=) c.3525T>C (p.Cys1175=) c.3393T>C (p.Cys1131=) | |
| 20 | g.32436258T>G | CA408563291 | ASXL1 | c.3546T>G (p.Cys1182Trp) c.3363T>G (p.Cys1121Trp) n.5899T>G c.1869+1677T>G (n.1869+1677T>G) c.3531T>G (p.Cys1177Trp) c.3543T>G (p.Cys1181Trp) c.3516T>G (p.Cys1172Trp) c.3462T>G (p.Cys1154Trp) c.2862T>G (p.Cys954Trp) c.3810T>G (p.Cys1270Trp) c.3807T>G (p.Cys1269Trp) c.3726T>G (p.Cys1242Trp) c.3657T>G (p.Cys1219Trp) c.3525T>G (p.Cys1175Trp) c.3393T>G (p.Cys1131Trp) | ClinVar |
| 20 | g.32436259G>A | CA408563292 | ASXL1 | c.3547G>A (p.Glu1183Lys) c.3364G>A (p.Glu1122Lys) n.5900G>A c.1869+1678G>A (n.1869+1678G>A) c.3532G>A (p.Glu1178Lys) c.3544G>A (p.Glu1182Lys) c.3517G>A (p.Glu1173Lys) c.3463G>A (p.Glu1155Lys) c.2863G>A (p.Glu955Lys) c.3811G>A (p.Glu1271Lys) c.3808G>A (p.Glu1270Lys) c.3727G>A (p.Glu1243Lys) c.3658G>A (p.Glu1220Lys) c.3526G>A (p.Glu1176Lys) c.3394G>A (p.Glu1132Lys) | dbSNP |
| 20 | g.32436259G>C | CA408563293 | ASXL1 | c.3547G>C (p.Glu1183Gln) c.3364G>C (p.Glu1122Gln) n.5900G>C c.1869+1678G>C (n.1869+1678G>C) c.3532G>C (p.Glu1178Gln) c.3544G>C (p.Glu1182Gln) c.3517G>C (p.Glu1173Gln) c.3463G>C (p.Glu1155Gln) c.2863G>C (p.Glu955Gln) c.3811G>C (p.Glu1271Gln) c.3808G>C (p.Glu1270Gln) c.3727G>C (p.Glu1243Gln) c.3658G>C (p.Glu1220Gln) c.3526G>C (p.Glu1176Gln) c.3394G>C (p.Glu1132Gln) | |
| 20 | g.32436259G>T | CA408563294 | ASXL1 | c.3547G>T (p.Glu1183Ter) c.3364G>T (p.Glu1122Ter) n.5900G>T c.1869+1678G>T (n.1869+1678G>T) c.3532G>T (p.Glu1178Ter) c.3544G>T (p.Glu1182Ter) c.3517G>T (p.Glu1173Ter) c.3463G>T (p.Glu1155Ter) c.2863G>T (p.Glu955Ter) c.3811G>T (p.Glu1271Ter) c.3808G>T (p.Glu1270Ter) c.3727G>T (p.Glu1243Ter) c.3658G>T (p.Glu1220Ter) c.3526G>T (p.Glu1176Ter) c.3394G>T (p.Glu1132Ter) | |
| 20 | g.32436260A= | CA2360293615 | ASXL1 | c.3548A= (p.Glu1183=) c.3365A= (p.Glu1122=) n.5901A= c.1869+1679A= (n.1869+1679A=) c.3533A= (p.Glu1178=) c.3545A= (p.Glu1182=) c.3518A= (p.Glu1173=) c.3464A= (p.Glu1155=) c.2864A= (p.Glu955=) c.3812A= (p.Glu1271=) c.3809A= (p.Glu1270=) c.3728A= (p.Glu1243=) c.3659A= (p.Glu1220=) c.3527A= (p.Glu1176=) c.3395A= (p.Glu1132=) | |
| 20 | g.32436260A>C | CA408563295 | ASXL1 | c.3548A>C (p.Glu1183Ala) c.3365A>C (p.Glu1122Ala) n.5901A>C c.1869+1679A>C (n.1869+1679A>C) c.3533A>C (p.Glu1178Ala) c.3545A>C (p.Glu1182Ala) c.3518A>C (p.Glu1173Ala) c.3464A>C (p.Glu1155Ala) c.2864A>C (p.Glu955Ala) c.3812A>C (p.Glu1271Ala) c.3809A>C (p.Glu1270Ala) c.3728A>C (p.Glu1243Ala) c.3659A>C (p.Glu1220Ala) c.3527A>C (p.Glu1176Ala) c.3395A>C (p.Glu1132Ala) | ClinVar dbSNP gnomAD v4 |
| 20 | g.32436260A>G | CA408563296 | ASXL1 | c.3548A>G (p.Glu1183Gly) c.3365A>G (p.Glu1122Gly) n.5901A>G c.1869+1679A>G (n.1869+1679A>G) c.3533A>G (p.Glu1178Gly) c.3545A>G (p.Glu1182Gly) c.3518A>G (p.Glu1173Gly) c.3464A>G (p.Glu1155Gly) c.2864A>G (p.Glu955Gly) c.3812A>G (p.Glu1271Gly) c.3809A>G (p.Glu1270Gly) c.3728A>G (p.Glu1243Gly) c.3659A>G (p.Glu1220Gly) c.3527A>G (p.Glu1176Gly) c.3395A>G (p.Glu1132Gly) | |
| 20 | g.32436260A>T | CA408563297 | ASXL1 | c.3548A>T (p.Glu1183Val) c.3365A>T (p.Glu1122Val) n.5901A>T c.1869+1679A>T (n.1869+1679A>T) c.3533A>T (p.Glu1178Val) c.3545A>T (p.Glu1182Val) c.3518A>T (p.Glu1173Val) c.3464A>T (p.Glu1155Val) c.2864A>T (p.Glu955Val) c.3812A>T (p.Glu1271Val) c.3809A>T (p.Glu1270Val) c.3728A>T (p.Glu1243Val) c.3659A>T (p.Glu1220Val) c.3527A>T (p.Glu1176Val) c.3395A>T (p.Glu1132Val) | |
| 20 | g.32436262dup | CA2580098071 | ASXL1 | c.3550dup (p.Thr1184AsnfsTer9) c.3367dup (p.Thr1123AsnfsTer9) n.5903dup c.1869+1681dup (n.1869+1681dup) c.3535dup (p.Thr1179AsnfsTer9) c.3547dup (p.Thr1183AsnfsTer9) c.3520dup (p.Thr1174AsnfsTer9) c.3466dup (p.Thr1156AsnfsTer9) c.2866dup (p.Thr956AsnfsTer9) c.3814dup (p.Thr1272AsnfsTer9) c.3811dup (p.Thr1271AsnfsTer9) c.3730dup (p.Thr1244AsnfsTer9) c.3661dup (p.Thr1221AsnfsTer9) c.3529dup (p.Thr1177AsnfsTer9) c.3397dup (p.Thr1133AsnfsTer9) | ClinVar |