Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
20 | g.32436212C>A | CA408563192 | ASXL1 | c.3500C>A (p.Pro1167His) c.3317C>A (p.Pro1106His) n.5853C>A c.1869+1631C>A (n.1869+1631C>A) c.3485C>A (p.Pro1162His) c.3497C>A (p.Pro1166His) c.3470C>A (p.Pro1157His) c.3416C>A (p.Pro1139His) c.2816C>A (p.Pro939His) c.3764C>A (p.Pro1255His) c.3761C>A (p.Pro1254His) c.3680C>A (p.Pro1227His) c.3611C>A (p.Pro1204His) c.3479C>A (p.Pro1160His) c.3347C>A (p.Pro1116His) | |
20 | g.32436212C>G | CA408563193 | ASXL1 | c.3500C>G (p.Pro1167Arg) c.3317C>G (p.Pro1106Arg) n.5853C>G c.1869+1631C>G (n.1869+1631C>G) c.3485C>G (p.Pro1162Arg) c.3497C>G (p.Pro1166Arg) c.3470C>G (p.Pro1157Arg) c.3416C>G (p.Pro1139Arg) c.2816C>G (p.Pro939Arg) c.3764C>G (p.Pro1255Arg) c.3761C>G (p.Pro1254Arg) c.3680C>G (p.Pro1227Arg) c.3611C>G (p.Pro1204Arg) c.3479C>G (p.Pro1160Arg) c.3347C>G (p.Pro1116Arg) | |
20 | g.32436212C>T | CA408563194 | ASXL1 | c.3500C>T (p.Pro1167Leu) c.3317C>T (p.Pro1106Leu) n.5853C>T c.1869+1631C>T (n.1869+1631C>T) c.3485C>T (p.Pro1162Leu) c.3497C>T (p.Pro1166Leu) c.3470C>T (p.Pro1157Leu) c.3416C>T (p.Pro1139Leu) c.2816C>T (p.Pro939Leu) c.3764C>T (p.Pro1255Leu) c.3761C>T (p.Pro1254Leu) c.3680C>T (p.Pro1227Leu) c.3611C>T (p.Pro1204Leu) c.3479C>T (p.Pro1160Leu) c.3347C>T (p.Pro1116Leu) | dbSNP |
20 | g.32436213C>A | CA510467285 | ASXL1 | c.3501C>A (p.Pro1167=) c.3318C>A (p.Pro1106=) n.5854C>A c.1869+1632C>A (n.1869+1632C>A) c.3486C>A (p.Pro1162=) c.3498C>A (p.Pro1166=) c.3471C>A (p.Pro1157=) c.3417C>A (p.Pro1139=) c.2817C>A (p.Pro939=) c.3765C>A (p.Pro1255=) c.3762C>A (p.Pro1254=) c.3681C>A (p.Pro1227=) c.3612C>A (p.Pro1204=) c.3480C>A (p.Pro1160=) c.3348C>A (p.Pro1116=) | |
20 | g.32436213C= | CA2360293590 | ASXL1 | c.3501C= (p.Pro1167=) c.3318C= (p.Pro1106=) n.5854C= c.1869+1632C= (n.1869+1632C=) c.3486C= (p.Pro1162=) c.3498C= (p.Pro1166=) c.3471C= (p.Pro1157=) c.3417C= (p.Pro1139=) c.2817C= (p.Pro939=) c.3765C= (p.Pro1255=) c.3762C= (p.Pro1254=) c.3681C= (p.Pro1227=) c.3612C= (p.Pro1204=) c.3480C= (p.Pro1160=) c.3348C= (p.Pro1116=) | |
20 | g.32436213C>G | CA510467286 | ASXL1 | c.3501C>G (p.Pro1167=) c.3318C>G (p.Pro1106=) n.5854C>G c.1869+1632C>G (n.1869+1632C>G) c.3486C>G (p.Pro1162=) c.3498C>G (p.Pro1166=) c.3471C>G (p.Pro1157=) c.3417C>G (p.Pro1139=) c.2817C>G (p.Pro939=) c.3765C>G (p.Pro1255=) c.3762C>G (p.Pro1254=) c.3681C>G (p.Pro1227=) c.3612C>G (p.Pro1204=) c.3480C>G (p.Pro1160=) c.3348C>G (p.Pro1116=) | |
20 | g.32436213C>T | CA510467287 | ASXL1 | c.3501C>T (p.Pro1167=) c.3318C>T (p.Pro1106=) n.5854C>T c.1869+1632C>T (n.1869+1632C>T) c.3486C>T (p.Pro1162=) c.3498C>T (p.Pro1166=) c.3471C>T (p.Pro1157=) c.3417C>T (p.Pro1139=) c.2817C>T (p.Pro939=) c.3765C>T (p.Pro1255=) c.3762C>T (p.Pro1254=) c.3681C>T (p.Pro1227=) c.3612C>T (p.Pro1204=) c.3480C>T (p.Pro1160=) c.3348C>T (p.Pro1116=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436214del | CA2577366313 | ASXL1 | c.3502del (p.Ser1168ValfsTer3) c.3319del (p.Ser1107ValfsTer3) n.5855del c.1869+1633del (n.1869+1633del) c.3487del (p.Ser1163ValfsTer3) c.3499del (p.Ser1167ValfsTer3) c.3472del (p.Ser1158ValfsTer3) c.3418del (p.Ser1140ValfsTer3) c.2818del (p.Ser940ValfsTer3) c.3766del (p.Ser1256ValfsTer3) c.3763del (p.Ser1255ValfsTer3) c.3682del (p.Ser1228ValfsTer3) c.3613del (p.Ser1205ValfsTer3) c.3481del (p.Ser1161ValfsTer3) c.3349del (p.Ser1117ValfsTer3) | |
20 | g.32436214A= | CA2360293591 | ASXL1 | c.3502A= (p.Ser1168=) c.3319A= (p.Ser1107=) n.5855A= c.1869+1633A= (n.1869+1633A=) c.3487A= (p.Ser1163=) c.3499A= (p.Ser1167=) c.3472A= (p.Ser1158=) c.3418A= (p.Ser1140=) c.2818A= (p.Ser940=) c.3766A= (p.Ser1256=) c.3763A= (p.Ser1255=) c.3682A= (p.Ser1228=) c.3613A= (p.Ser1205=) c.3481A= (p.Ser1161=) c.3349A= (p.Ser1117=) | |
20 | g.32436214A>C | CA408563195 | ASXL1 | c.3502A>C (p.Ser1168Arg) c.3319A>C (p.Ser1107Arg) n.5855A>C c.1869+1633A>C (n.1869+1633A>C) c.3487A>C (p.Ser1163Arg) c.3499A>C (p.Ser1167Arg) c.3472A>C (p.Ser1158Arg) c.3418A>C (p.Ser1140Arg) c.2818A>C (p.Ser940Arg) c.3766A>C (p.Ser1256Arg) c.3763A>C (p.Ser1255Arg) c.3682A>C (p.Ser1228Arg) c.3613A>C (p.Ser1205Arg) c.3481A>C (p.Ser1161Arg) c.3349A>C (p.Ser1117Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436214A>G | CA408563196 | ASXL1 | c.3502A>G (p.Ser1168Gly) c.3319A>G (p.Ser1107Gly) n.5855A>G c.1869+1633A>G (n.1869+1633A>G) c.3487A>G (p.Ser1163Gly) c.3499A>G (p.Ser1167Gly) c.3472A>G (p.Ser1158Gly) c.3418A>G (p.Ser1140Gly) c.2818A>G (p.Ser940Gly) c.3766A>G (p.Ser1256Gly) c.3763A>G (p.Ser1255Gly) c.3682A>G (p.Ser1228Gly) c.3613A>G (p.Ser1205Gly) c.3481A>G (p.Ser1161Gly) c.3349A>G (p.Ser1117Gly) | |
20 | g.32436214A>T | CA408563197 | ASXL1 | c.3502A>T (p.Ser1168Cys) c.3319A>T (p.Ser1107Cys) n.5855A>T c.1869+1633A>T (n.1869+1633A>T) c.3487A>T (p.Ser1163Cys) c.3499A>T (p.Ser1167Cys) c.3472A>T (p.Ser1158Cys) c.3418A>T (p.Ser1140Cys) c.2818A>T (p.Ser940Cys) c.3766A>T (p.Ser1256Cys) c.3763A>T (p.Ser1255Cys) c.3682A>T (p.Ser1228Cys) c.3613A>T (p.Ser1205Cys) c.3481A>T (p.Ser1161Cys) c.3349A>T (p.Ser1117Cys) | gnomAD v4 |
20 | g.32436215G>A | CA408563198 | ASXL1 | c.3503G>A (p.Ser1168Asn) c.3320G>A (p.Ser1107Asn) n.5856G>A c.1869+1634G>A (n.1869+1634G>A) c.3488G>A (p.Ser1163Asn) c.3500G>A (p.Ser1167Asn) c.3473G>A (p.Ser1158Asn) c.3419G>A (p.Ser1140Asn) c.2819G>A (p.Ser940Asn) c.3767G>A (p.Ser1256Asn) c.3764G>A (p.Ser1255Asn) c.3683G>A (p.Ser1228Asn) c.3614G>A (p.Ser1205Asn) c.3482G>A (p.Ser1161Asn) c.3350G>A (p.Ser1117Asn) | |
20 | g.32436215G>C | CA157041 | ASXL1 | c.3503G>C (p.Ser1168Thr) c.3320G>C (p.Ser1107Thr) n.5856G>C c.1869+1634G>C (n.1869+1634G>C) c.3488G>C (p.Ser1163Thr) c.3500G>C (p.Ser1167Thr) c.3473G>C (p.Ser1158Thr) c.3419G>C (p.Ser1140Thr) c.2819G>C (p.Ser940Thr) c.3767G>C (p.Ser1256Thr) c.3764G>C (p.Ser1255Thr) c.3683G>C (p.Ser1228Thr) c.3614G>C (p.Ser1205Thr) c.3482G>C (p.Ser1161Thr) c.3350G>C (p.Ser1117Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436215G= | CA2360293592 | ASXL1 | c.3503G= (p.Ser1168=) c.3320G= (p.Ser1107=) n.5856G= c.1869+1634G= (n.1869+1634G=) c.3488G= (p.Ser1163=) c.3500G= (p.Ser1167=) c.3473G= (p.Ser1158=) c.3419G= (p.Ser1140=) c.2819G= (p.Ser940=) c.3767G= (p.Ser1256=) c.3764G= (p.Ser1255=) c.3683G= (p.Ser1228=) c.3614G= (p.Ser1205=) c.3482G= (p.Ser1161=) c.3350G= (p.Ser1117=) | |
20 | g.32436215G>T | CA408563199 | ASXL1 | c.3503G>T (p.Ser1168Ile) c.3320G>T (p.Ser1107Ile) n.5856G>T c.1869+1634G>T (n.1869+1634G>T) c.3488G>T (p.Ser1163Ile) c.3500G>T (p.Ser1167Ile) c.3473G>T (p.Ser1158Ile) c.3419G>T (p.Ser1140Ile) c.2819G>T (p.Ser940Ile) c.3767G>T (p.Ser1256Ile) c.3764G>T (p.Ser1255Ile) c.3683G>T (p.Ser1228Ile) c.3614G>T (p.Ser1205Ile) c.3482G>T (p.Ser1161Ile) c.3350G>T (p.Ser1117Ile) | |
20 | g.32436216T>A | CA408563201 | ASXL1 | c.3504T>A (p.Ser1168Arg) c.3321T>A (p.Ser1107Arg) n.5857T>A c.1869+1635T>A (n.1869+1635T>A) c.3489T>A (p.Ser1163Arg) c.3501T>A (p.Ser1167Arg) c.3474T>A (p.Ser1158Arg) c.3420T>A (p.Ser1140Arg) c.2820T>A (p.Ser940Arg) c.3768T>A (p.Ser1256Arg) c.3765T>A (p.Ser1255Arg) c.3684T>A (p.Ser1228Arg) c.3615T>A (p.Ser1205Arg) c.3483T>A (p.Ser1161Arg) c.3351T>A (p.Ser1117Arg) | |
20 | g.32436216T>C | CA510467288 | ASXL1 | c.3504T>C (p.Ser1168=) c.3321T>C (p.Ser1107=) n.5857T>C c.1869+1635T>C (n.1869+1635T>C) c.3489T>C (p.Ser1163=) c.3501T>C (p.Ser1167=) c.3474T>C (p.Ser1158=) c.3420T>C (p.Ser1140=) c.2820T>C (p.Ser940=) c.3768T>C (p.Ser1256=) c.3765T>C (p.Ser1255=) c.3684T>C (p.Ser1228=) c.3615T>C (p.Ser1205=) c.3483T>C (p.Ser1161=) c.3351T>C (p.Ser1117=) | |
20 | g.32436216T>G | CA408563200 | ASXL1 | c.3504T>G (p.Ser1168Arg) c.3321T>G (p.Ser1107Arg) n.5857T>G c.1869+1635T>G (n.1869+1635T>G) c.3489T>G (p.Ser1163Arg) c.3501T>G (p.Ser1167Arg) c.3474T>G (p.Ser1158Arg) c.3420T>G (p.Ser1140Arg) c.2820T>G (p.Ser940Arg) c.3768T>G (p.Ser1256Arg) c.3765T>G (p.Ser1255Arg) c.3684T>G (p.Ser1228Arg) c.3615T>G (p.Ser1205Arg) c.3483T>G (p.Ser1161Arg) c.3351T>G (p.Ser1117Arg) | |
20 | g.32436217del | CA2577366314 | ASXL1 | c.3505del (p.Ser1169LeufsTer2) c.3322del (p.Ser1108LeufsTer2) n.5858del c.1869+1636del (n.1869+1636del) c.3490del (p.Ser1164LeufsTer2) c.3502del (p.Ser1168LeufsTer2) c.3475del (p.Ser1159LeufsTer2) c.3421del (p.Ser1141LeufsTer2) c.2821del (p.Ser941LeufsTer2) c.3769del (p.Ser1257LeufsTer2) c.3766del (p.Ser1256LeufsTer2) c.3685del (p.Ser1229LeufsTer2) c.3616del (p.Ser1206LeufsTer2) c.3484del (p.Ser1162LeufsTer2) c.3352del (p.Ser1118LeufsTer2) | |
20 | g.32436217T>A | CA408563202 | ASXL1 | c.3505T>A (p.Ser1169Thr) c.3322T>A (p.Ser1108Thr) n.5858T>A c.1869+1636T>A (n.1869+1636T>A) c.3490T>A (p.Ser1164Thr) c.3502T>A (p.Ser1168Thr) c.3475T>A (p.Ser1159Thr) c.3421T>A (p.Ser1141Thr) c.2821T>A (p.Ser941Thr) c.3769T>A (p.Ser1257Thr) c.3766T>A (p.Ser1256Thr) c.3685T>A (p.Ser1229Thr) c.3616T>A (p.Ser1206Thr) c.3484T>A (p.Ser1162Thr) c.3352T>A (p.Ser1118Thr) | dbSNP |
20 | g.32436217T>C | CA408563203 | ASXL1 | c.3505T>C (p.Ser1169Pro) c.3322T>C (p.Ser1108Pro) n.5858T>C c.1869+1636T>C (n.1869+1636T>C) c.3490T>C (p.Ser1164Pro) c.3502T>C (p.Ser1168Pro) c.3475T>C (p.Ser1159Pro) c.3421T>C (p.Ser1141Pro) c.2821T>C (p.Ser941Pro) c.3769T>C (p.Ser1257Pro) c.3766T>C (p.Ser1256Pro) c.3685T>C (p.Ser1229Pro) c.3616T>C (p.Ser1206Pro) c.3484T>C (p.Ser1162Pro) c.3352T>C (p.Ser1118Pro) | |
20 | g.32436217T>G | CA408563204 | ASXL1 | c.3505T>G (p.Ser1169Ala) c.3322T>G (p.Ser1108Ala) n.5858T>G c.1869+1636T>G (n.1869+1636T>G) c.3490T>G (p.Ser1164Ala) c.3502T>G (p.Ser1168Ala) c.3475T>G (p.Ser1159Ala) c.3421T>G (p.Ser1141Ala) c.2821T>G (p.Ser941Ala) c.3769T>G (p.Ser1257Ala) c.3766T>G (p.Ser1256Ala) c.3685T>G (p.Ser1229Ala) c.3616T>G (p.Ser1206Ala) c.3484T>G (p.Ser1162Ala) c.3352T>G (p.Ser1118Ala) | |
20 | g.32436218C>A | CA408563205 | ASXL1 | c.3506C>A (p.Ser1169Tyr) c.3323C>A (p.Ser1108Tyr) n.5859C>A c.1869+1637C>A (n.1869+1637C>A) c.3491C>A (p.Ser1164Tyr) c.3503C>A (p.Ser1168Tyr) c.3476C>A (p.Ser1159Tyr) c.3422C>A (p.Ser1141Tyr) c.2822C>A (p.Ser941Tyr) c.3770C>A (p.Ser1257Tyr) c.3767C>A (p.Ser1256Tyr) c.3686C>A (p.Ser1229Tyr) c.3617C>A (p.Ser1206Tyr) c.3485C>A (p.Ser1162Tyr) c.3353C>A (p.Ser1118Tyr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436218C= | CA2360293593 | ASXL1 | c.3506C= (p.Ser1169=) c.3323C= (p.Ser1108=) n.5859C= c.1869+1637C= (n.1869+1637C=) c.3491C= (p.Ser1164=) c.3503C= (p.Ser1168=) c.3476C= (p.Ser1159=) c.3422C= (p.Ser1141=) c.2822C= (p.Ser941=) c.3770C= (p.Ser1257=) c.3767C= (p.Ser1256=) c.3686C= (p.Ser1229=) c.3617C= (p.Ser1206=) c.3485C= (p.Ser1162=) c.3353C= (p.Ser1118=) | |
20 | g.32436218C>G | CA408563206 | ASXL1 | c.3506C>G (p.Ser1169Cys) c.3323C>G (p.Ser1108Cys) n.5859C>G c.1869+1637C>G (n.1869+1637C>G) c.3491C>G (p.Ser1164Cys) c.3503C>G (p.Ser1168Cys) c.3476C>G (p.Ser1159Cys) c.3422C>G (p.Ser1141Cys) c.2822C>G (p.Ser941Cys) c.3770C>G (p.Ser1257Cys) c.3767C>G (p.Ser1256Cys) c.3686C>G (p.Ser1229Cys) c.3617C>G (p.Ser1206Cys) c.3485C>G (p.Ser1162Cys) c.3353C>G (p.Ser1118Cys) | |
20 | g.32436218C>T | CA408563207 | ASXL1 | c.3506C>T (p.Ser1169Phe) c.3323C>T (p.Ser1108Phe) n.5859C>T c.1869+1637C>T (n.1869+1637C>T) c.3491C>T (p.Ser1164Phe) c.3503C>T (p.Ser1168Phe) c.3476C>T (p.Ser1159Phe) c.3422C>T (p.Ser1141Phe) c.2822C>T (p.Ser941Phe) c.3770C>T (p.Ser1257Phe) c.3767C>T (p.Ser1256Phe) c.3686C>T (p.Ser1229Phe) c.3617C>T (p.Ser1206Phe) c.3485C>T (p.Ser1162Phe) c.3353C>T (p.Ser1118Phe) | ClinVar gnomAD v4 COSMIC COSMIC |
20 | g.32436219T>A | CA510467289 | ASXL1 | c.3507T>A (p.Ser1169=) c.3324T>A (p.Ser1108=) n.5860T>A c.1869+1638T>A (n.1869+1638T>A) c.3492T>A (p.Ser1164=) c.3504T>A (p.Ser1168=) c.3477T>A (p.Ser1159=) c.3423T>A (p.Ser1141=) c.2823T>A (p.Ser941=) c.3771T>A (p.Ser1257=) c.3768T>A (p.Ser1256=) c.3687T>A (p.Ser1229=) c.3618T>A (p.Ser1206=) c.3486T>A (p.Ser1162=) c.3354T>A (p.Ser1118=) | |
20 | g.32436219T>C | CA510467290 | ASXL1 | c.3507T>C (p.Ser1169=) c.3324T>C (p.Ser1108=) n.5860T>C c.1869+1638T>C (n.1869+1638T>C) c.3492T>C (p.Ser1164=) c.3504T>C (p.Ser1168=) c.3477T>C (p.Ser1159=) c.3423T>C (p.Ser1141=) c.2823T>C (p.Ser941=) c.3771T>C (p.Ser1257=) c.3768T>C (p.Ser1256=) c.3687T>C (p.Ser1229=) c.3618T>C (p.Ser1206=) c.3486T>C (p.Ser1162=) c.3354T>C (p.Ser1118=) | |
20 | g.32436219T>G | CA510467291 | ASXL1 | c.3507T>G (p.Ser1169=) c.3324T>G (p.Ser1108=) n.5860T>G c.1869+1638T>G (n.1869+1638T>G) c.3492T>G (p.Ser1164=) c.3504T>G (p.Ser1168=) c.3477T>G (p.Ser1159=) c.3423T>G (p.Ser1141=) c.2823T>G (p.Ser941=) c.3771T>G (p.Ser1257=) c.3768T>G (p.Ser1256=) c.3687T>G (p.Ser1229=) c.3618T>G (p.Ser1206=) c.3486T>G (p.Ser1162=) c.3354T>G (p.Ser1118=) | |
20 | g.32436221dup | CA510467292 | ASXL1 | c.3509dup (p.Leu1170PhefsTer12) c.3326dup (p.Leu1109PhefsTer12) n.5862dup c.1869+1640dup (n.1869+1640dup) c.3494dup (p.Leu1165PhefsTer12) c.3506dup (p.Leu1169PhefsTer12) c.3479dup (p.Leu1160PhefsTer12) c.3425dup (p.Leu1142PhefsTer12) c.2825dup (p.Leu942PhefsTer12) c.3773dup (p.Leu1258PhefsTer12) c.3770dup (p.Leu1257PhefsTer12) c.3689dup (p.Leu1230PhefsTer12) c.3620dup (p.Leu1207PhefsTer12) c.3488dup (p.Leu1163PhefsTer12) c.3356dup (p.Leu1119PhefsTer12) | COSMIC |
20 | g.32436220T>A | CA408563208 | ASXL1 | c.3508T>A (p.Leu1170Ile) c.3325T>A (p.Leu1109Ile) n.5861T>A c.1869+1639T>A (n.1869+1639T>A) c.3493T>A (p.Leu1165Ile) c.3505T>A (p.Leu1169Ile) c.3478T>A (p.Leu1160Ile) c.3424T>A (p.Leu1142Ile) c.2824T>A (p.Leu942Ile) c.3772T>A (p.Leu1258Ile) c.3769T>A (p.Leu1257Ile) c.3688T>A (p.Leu1230Ile) c.3619T>A (p.Leu1207Ile) c.3487T>A (p.Leu1163Ile) c.3355T>A (p.Leu1119Ile) | |
20 | g.32436220T>C | CA510467293 | ASXL1 | c.3508T>C (p.Leu1170=) c.3325T>C (p.Leu1109=) n.5861T>C c.1869+1639T>C (n.1869+1639T>C) c.3493T>C (p.Leu1165=) c.3505T>C (p.Leu1169=) c.3478T>C (p.Leu1160=) c.3424T>C (p.Leu1142=) c.2824T>C (p.Leu942=) c.3772T>C (p.Leu1258=) c.3769T>C (p.Leu1257=) c.3688T>C (p.Leu1230=) c.3619T>C (p.Leu1207=) c.3487T>C (p.Leu1163=) c.3355T>C (p.Leu1119=) | gnomAD v4 |
20 | g.32436220T>G | CA408563209 | ASXL1 | c.3508T>G (p.Leu1170Val) c.3325T>G (p.Leu1109Val) n.5861T>G c.1869+1639T>G (n.1869+1639T>G) c.3493T>G (p.Leu1165Val) c.3505T>G (p.Leu1169Val) c.3478T>G (p.Leu1160Val) c.3424T>G (p.Leu1142Val) c.2824T>G (p.Leu942Val) c.3772T>G (p.Leu1258Val) c.3769T>G (p.Leu1257Val) c.3688T>G (p.Leu1230Val) c.3619T>G (p.Leu1207Val) c.3487T>G (p.Leu1163Val) c.3355T>G (p.Leu1119Val) | |
20 | g.32436221T>A | CA408563210 | ASXL1 | c.3509T>A (p.Leu1170Ter) c.3326T>A (p.Leu1109Ter) n.5862T>A c.1869+1640T>A (n.1869+1640T>A) c.3494T>A (p.Leu1165Ter) c.3506T>A (p.Leu1169Ter) c.3479T>A (p.Leu1160Ter) c.3425T>A (p.Leu1142Ter) c.2825T>A (p.Leu942Ter) c.3773T>A (p.Leu1258Ter) c.3770T>A (p.Leu1257Ter) c.3689T>A (p.Leu1230Ter) c.3620T>A (p.Leu1207Ter) c.3488T>A (p.Leu1163Ter) c.3356T>A (p.Leu1119Ter) | |
20 | g.32436221T>C | CA408563211 | ASXL1 | c.3509T>C (p.Leu1170Ser) c.3326T>C (p.Leu1109Ser) n.5862T>C c.1869+1640T>C (n.1869+1640T>C) c.3494T>C (p.Leu1165Ser) c.3506T>C (p.Leu1169Ser) c.3479T>C (p.Leu1160Ser) c.3425T>C (p.Leu1142Ser) c.2825T>C (p.Leu942Ser) c.3773T>C (p.Leu1258Ser) c.3770T>C (p.Leu1257Ser) c.3689T>C (p.Leu1230Ser) c.3620T>C (p.Leu1207Ser) c.3488T>C (p.Leu1163Ser) c.3356T>C (p.Leu1119Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436221T>G | CA408563212 | ASXL1 | c.3509T>G (p.Leu1170Ter) c.3326T>G (p.Leu1109Ter) n.5862T>G c.1869+1640T>G (n.1869+1640T>G) c.3494T>G (p.Leu1165Ter) c.3506T>G (p.Leu1169Ter) c.3479T>G (p.Leu1160Ter) c.3425T>G (p.Leu1142Ter) c.2825T>G (p.Leu942Ter) c.3773T>G (p.Leu1258Ter) c.3770T>G (p.Leu1257Ter) c.3689T>G (p.Leu1230Ter) c.3620T>G (p.Leu1207Ter) c.3488T>G (p.Leu1163Ter) c.3356T>G (p.Leu1119Ter) | |
20 | g.32436221T= | CA2360293594 | ASXL1 | c.3509T= (p.Leu1170=) c.3326T= (p.Leu1109=) n.5862T= c.1869+1640T= (n.1869+1640T=) c.3494T= (p.Leu1165=) c.3506T= (p.Leu1169=) c.3479T= (p.Leu1160=) c.3425T= (p.Leu1142=) c.2825T= (p.Leu942=) c.3773T= (p.Leu1258=) c.3770T= (p.Leu1257=) c.3689T= (p.Leu1230=) c.3620T= (p.Leu1207=) c.3488T= (p.Leu1163=) c.3356T= (p.Leu1119=) | |
20 | g.32436222A>C | CA408563213 | ASXL1 | c.3510A>C (p.Leu1170Phe) c.3327A>C (p.Leu1109Phe) n.5863A>C c.1869+1641A>C (n.1869+1641A>C) c.3495A>C (p.Leu1165Phe) c.3507A>C (p.Leu1169Phe) c.3480A>C (p.Leu1160Phe) c.3426A>C (p.Leu1142Phe) c.2826A>C (p.Leu942Phe) c.3774A>C (p.Leu1258Phe) c.3771A>C (p.Leu1257Phe) c.3690A>C (p.Leu1230Phe) c.3621A>C (p.Leu1207Phe) c.3489A>C (p.Leu1163Phe) c.3357A>C (p.Leu1119Phe) | |
20 | g.32436222A>G | CA510467295 | ASXL1 | c.3510A>G (p.Leu1170=) c.3327A>G (p.Leu1109=) n.5863A>G c.1869+1641A>G (n.1869+1641A>G) c.3495A>G (p.Leu1165=) c.3507A>G (p.Leu1169=) c.3480A>G (p.Leu1160=) c.3426A>G (p.Leu1142=) c.2826A>G (p.Leu942=) c.3774A>G (p.Leu1258=) c.3771A>G (p.Leu1257=) c.3690A>G (p.Leu1230=) c.3621A>G (p.Leu1207=) c.3489A>G (p.Leu1163=) c.3357A>G (p.Leu1119=) | |
20 | g.32436222A>T | CA408563214 | ASXL1 | c.3510A>T (p.Leu1170Phe) c.3327A>T (p.Leu1109Phe) n.5863A>T c.1869+1641A>T (n.1869+1641A>T) c.3495A>T (p.Leu1165Phe) c.3507A>T (p.Leu1169Phe) c.3480A>T (p.Leu1160Phe) c.3426A>T (p.Leu1142Phe) c.2826A>T (p.Leu942Phe) c.3774A>T (p.Leu1258Phe) c.3771A>T (p.Leu1257Phe) c.3690A>T (p.Leu1230Phe) c.3621A>T (p.Leu1207Phe) c.3489A>T (p.Leu1163Phe) c.3357A>T (p.Leu1119Phe) | gnomAD v4 |
20 | g.32436223A>C | CA510467297 | ASXL1 | c.3511A>C (p.Arg1171=) c.3328A>C (p.Arg1110=) n.5864A>C c.1869+1642A>C (n.1869+1642A>C) c.3496A>C (p.Arg1166=) c.3508A>C (p.Arg1170=) c.3481A>C (p.Arg1161=) c.3427A>C (p.Arg1143=) c.2827A>C (p.Arg943=) c.3775A>C (p.Arg1259=) c.3772A>C (p.Arg1258=) c.3691A>C (p.Arg1231=) c.3622A>C (p.Arg1208=) c.3490A>C (p.Arg1164=) c.3358A>C (p.Arg1120=) | |
20 | g.32436223A>G | CA408563216 | ASXL1 | c.3511A>G (p.Arg1171Gly) c.3328A>G (p.Arg1110Gly) n.5864A>G c.1869+1642A>G (n.1869+1642A>G) c.3496A>G (p.Arg1166Gly) c.3508A>G (p.Arg1170Gly) c.3481A>G (p.Arg1161Gly) c.3427A>G (p.Arg1143Gly) c.2827A>G (p.Arg943Gly) c.3775A>G (p.Arg1259Gly) c.3772A>G (p.Arg1258Gly) c.3691A>G (p.Arg1231Gly) c.3622A>G (p.Arg1208Gly) c.3490A>G (p.Arg1164Gly) c.3358A>G (p.Arg1120Gly) | gnomAD v4 |
20 | g.32436223A>T | CA408563215 | ASXL1 | c.3511A>T (p.Arg1171Trp) c.3328A>T (p.Arg1110Trp) n.5864A>T c.1869+1642A>T (n.1869+1642A>T) c.3496A>T (p.Arg1166Trp) c.3508A>T (p.Arg1170Trp) c.3481A>T (p.Arg1161Trp) c.3427A>T (p.Arg1143Trp) c.2827A>T (p.Arg943Trp) c.3775A>T (p.Arg1259Trp) c.3772A>T (p.Arg1258Trp) c.3691A>T (p.Arg1231Trp) c.3622A>T (p.Arg1208Trp) c.3490A>T (p.Arg1164Trp) c.3358A>T (p.Arg1120Trp) | |
20 | g.32436223_32436224delinsAG | CA2360293595 | ASXL1 | c.3511_3512delinsAG (p.Arg1171=) c.3328_3329delinsAG (p.Arg1110=) n.5864_5865delinsAG c.1869+1642_1869+1643delinsAG (n.1869+1642_1869+1643delinsAG) c.3496_3497delinsAG (p.Arg1166=) c.3508_3509delinsAG (p.Arg1170=) c.3481_3482delinsAG (p.Arg1161=) c.3427_3428delinsAG (p.Arg1143=) c.2827_2828delinsAG (p.Arg943=) c.3775_3776delinsAG (p.Arg1259=) c.3772_3773delinsAG (p.Arg1258=) c.3691_3692delinsAG (p.Arg1231=) c.3622_3623delinsAG (p.Arg1208=) c.3490_3491delinsAG (p.Arg1164=) c.3358_3359delinsAG (p.Arg1120=) | |
20 | g.32436224G>A | CA408563217 | ASXL1 | c.3512G>A (p.Arg1171Lys) c.3329G>A (p.Arg1110Lys) n.5865G>A c.1869+1643G>A (n.1869+1643G>A) c.3497G>A (p.Arg1166Lys) c.3509G>A (p.Arg1170Lys) c.3482G>A (p.Arg1161Lys) c.3428G>A (p.Arg1143Lys) c.2828G>A (p.Arg943Lys) c.3776G>A (p.Arg1259Lys) c.3773G>A (p.Arg1258Lys) c.3692G>A (p.Arg1231Lys) c.3623G>A (p.Arg1208Lys) c.3491G>A (p.Arg1164Lys) c.3359G>A (p.Arg1120Lys) | |
20 | g.32436224G>C | CA408563218 | ASXL1 | c.3512G>C (p.Arg1171Thr) c.3329G>C (p.Arg1110Thr) n.5865G>C c.1869+1643G>C (n.1869+1643G>C) c.3497G>C (p.Arg1166Thr) c.3509G>C (p.Arg1170Thr) c.3482G>C (p.Arg1161Thr) c.3428G>C (p.Arg1143Thr) c.2828G>C (p.Arg943Thr) c.3776G>C (p.Arg1259Thr) c.3773G>C (p.Arg1258Thr) c.3692G>C (p.Arg1231Thr) c.3623G>C (p.Arg1208Thr) c.3491G>C (p.Arg1164Thr) c.3359G>C (p.Arg1120Thr) | gnomAD v2 gnomAD v4 |
20 | g.32436224G>T | CA408563219 | ASXL1 | c.3512G>T (p.Arg1171Met) c.3329G>T (p.Arg1110Met) n.5865G>T c.1869+1643G>T (n.1869+1643G>T) c.3497G>T (p.Arg1166Met) c.3509G>T (p.Arg1170Met) c.3482G>T (p.Arg1161Met) c.3428G>T (p.Arg1143Met) c.2828G>T (p.Arg943Met) c.3776G>T (p.Arg1259Met) c.3773G>T (p.Arg1258Met) c.3692G>T (p.Arg1231Met) c.3623G>T (p.Arg1208Met) c.3491G>T (p.Arg1164Met) c.3359G>T (p.Arg1120Met) | |
20 | g.32436226del | CA645612965 | ASXL1 | c.3514del (p.Ala1172LeufsTer2) c.3331del (p.Ala1111LeufsTer2) n.5867del c.1869+1645del (n.1869+1645del) c.3499del (p.Ala1167LeufsTer2) c.3511del (p.Ala1171LeufsTer2) c.3484del (p.Ala1162LeufsTer2) c.3430del (p.Ala1144LeufsTer2) c.2830del (p.Ala944LeufsTer2) c.3778del (p.Ala1260LeufsTer2) c.3775del (p.Ala1259LeufsTer2) c.3694del (p.Ala1232LeufsTer2) c.3625del (p.Ala1209LeufsTer2) c.3493del (p.Ala1165LeufsTer2) c.3361del (p.Ala1121LeufsTer2) | dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436225G>A | CA9808841 | ASXL1 | c.3513G>A (p.Arg1171=) c.3330G>A (p.Arg1110=) n.5866G>A c.1869+1644G>A (n.1869+1644G>A) c.3498G>A (p.Arg1166=) c.3510G>A (p.Arg1170=) c.3483G>A (p.Arg1161=) c.3429G>A (p.Arg1143=) c.2829G>A (p.Arg943=) c.3777G>A (p.Arg1259=) c.3774G>A (p.Arg1258=) c.3693G>A (p.Arg1231=) c.3624G>A (p.Arg1208=) c.3492G>A (p.Arg1164=) c.3360G>A (p.Arg1120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436225G>C | CA408563220 | ASXL1 | c.3513G>C (p.Arg1171Ser) c.3330G>C (p.Arg1110Ser) n.5866G>C c.1869+1644G>C (n.1869+1644G>C) c.3498G>C (p.Arg1166Ser) c.3510G>C (p.Arg1170Ser) c.3483G>C (p.Arg1161Ser) c.3429G>C (p.Arg1143Ser) c.2829G>C (p.Arg943Ser) c.3777G>C (p.Arg1259Ser) c.3774G>C (p.Arg1258Ser) c.3693G>C (p.Arg1231Ser) c.3624G>C (p.Arg1208Ser) c.3492G>C (p.Arg1164Ser) c.3360G>C (p.Arg1120Ser) | dbSNP gnomAD v4 |
20 | g.32436225G= | CA2360293596 | ASXL1 | c.3513G= (p.Arg1171=) c.3330G= (p.Arg1110=) n.5866G= c.1869+1644G= (n.1869+1644G=) c.3498G= (p.Arg1166=) c.3510G= (p.Arg1170=) c.3483G= (p.Arg1161=) c.3429G= (p.Arg1143=) c.2829G= (p.Arg943=) c.3777G= (p.Arg1259=) c.3774G= (p.Arg1258=) c.3693G= (p.Arg1231=) c.3624G= (p.Arg1208=) c.3492G= (p.Arg1164=) c.3360G= (p.Arg1120=) | |
20 | g.32436225G>T | CA408563221 | ASXL1 | c.3513G>T (p.Arg1171Ser) c.3330G>T (p.Arg1110Ser) n.5866G>T c.1869+1644G>T (n.1869+1644G>T) c.3498G>T (p.Arg1166Ser) c.3510G>T (p.Arg1170Ser) c.3483G>T (p.Arg1161Ser) c.3429G>T (p.Arg1143Ser) c.2829G>T (p.Arg943Ser) c.3777G>T (p.Arg1259Ser) c.3774G>T (p.Arg1258Ser) c.3693G>T (p.Arg1231Ser) c.3624G>T (p.Arg1208Ser) c.3492G>T (p.Arg1164Ser) c.3360G>T (p.Arg1120Ser) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436226G>A | CA9808842 | ASXL1 | c.3514G>A (p.Ala1172Thr) c.3331G>A (p.Ala1111Thr) n.5867G>A c.1869+1645G>A (n.1869+1645G>A) c.3499G>A (p.Ala1167Thr) c.3511G>A (p.Ala1171Thr) c.3484G>A (p.Ala1162Thr) c.3430G>A (p.Ala1144Thr) c.2830G>A (p.Ala944Thr) c.3778G>A (p.Ala1260Thr) c.3775G>A (p.Ala1259Thr) c.3694G>A (p.Ala1232Thr) c.3625G>A (p.Ala1209Thr) c.3493G>A (p.Ala1165Thr) c.3361G>A (p.Ala1121Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32436226G>C | CA408563222 | ASXL1 | c.3514G>C (p.Ala1172Pro) c.3331G>C (p.Ala1111Pro) n.5867G>C c.1869+1645G>C (n.1869+1645G>C) c.3499G>C (p.Ala1167Pro) c.3511G>C (p.Ala1171Pro) c.3484G>C (p.Ala1162Pro) c.3430G>C (p.Ala1144Pro) c.2830G>C (p.Ala944Pro) c.3778G>C (p.Ala1260Pro) c.3775G>C (p.Ala1259Pro) c.3694G>C (p.Ala1232Pro) c.3625G>C (p.Ala1209Pro) c.3493G>C (p.Ala1165Pro) c.3361G>C (p.Ala1121Pro) | |
20 | g.32436226G= | CA2360293597 | ASXL1 | c.3514G= (p.Ala1172=) c.3331G= (p.Ala1111=) n.5867G= c.1869+1645G= (n.1869+1645G=) c.3499G= (p.Ala1167=) c.3511G= (p.Ala1171=) c.3484G= (p.Ala1162=) c.3430G= (p.Ala1144=) c.2830G= (p.Ala944=) c.3778G= (p.Ala1260=) c.3775G= (p.Ala1259=) c.3694G= (p.Ala1232=) c.3625G= (p.Ala1209=) c.3493G= (p.Ala1165=) c.3361G= (p.Ala1121=) | |
20 | g.32436226G>T | CA408563223 | ASXL1 | c.3514G>T (p.Ala1172Ser) c.3331G>T (p.Ala1111Ser) n.5867G>T c.1869+1645G>T (n.1869+1645G>T) c.3499G>T (p.Ala1167Ser) c.3511G>T (p.Ala1171Ser) c.3484G>T (p.Ala1162Ser) c.3430G>T (p.Ala1144Ser) c.2830G>T (p.Ala944Ser) c.3778G>T (p.Ala1260Ser) c.3775G>T (p.Ala1259Ser) c.3694G>T (p.Ala1232Ser) c.3625G>T (p.Ala1209Ser) c.3493G>T (p.Ala1165Ser) c.3361G>T (p.Ala1121Ser) | |
20 | g.32436227C>A | CA408563224 | ASXL1 | c.3515C>A (p.Ala1172Asp) c.3332C>A (p.Ala1111Asp) n.5868C>A c.1869+1646C>A (n.1869+1646C>A) c.3500C>A (p.Ala1167Asp) c.3512C>A (p.Ala1171Asp) c.3485C>A (p.Ala1162Asp) c.3431C>A (p.Ala1144Asp) c.2831C>A (p.Ala944Asp) c.3779C>A (p.Ala1260Asp) c.3776C>A (p.Ala1259Asp) c.3695C>A (p.Ala1232Asp) c.3626C>A (p.Ala1209Asp) c.3494C>A (p.Ala1165Asp) c.3362C>A (p.Ala1121Asp) | |
20 | g.32436227C= | CA2360293598 | ASXL1 | c.3515C= (p.Ala1172=) c.3332C= (p.Ala1111=) n.5868C= c.1869+1646C= (n.1869+1646C=) c.3500C= (p.Ala1167=) c.3512C= (p.Ala1171=) c.3485C= (p.Ala1162=) c.3431C= (p.Ala1144=) c.2831C= (p.Ala944=) c.3779C= (p.Ala1260=) c.3776C= (p.Ala1259=) c.3695C= (p.Ala1232=) c.3626C= (p.Ala1209=) c.3494C= (p.Ala1165=) c.3362C= (p.Ala1121=) | |
20 | g.32436227C>G | CA408563225 | ASXL1 | c.3515C>G (p.Ala1172Gly) c.3332C>G (p.Ala1111Gly) n.5868C>G c.1869+1646C>G (n.1869+1646C>G) c.3500C>G (p.Ala1167Gly) c.3512C>G (p.Ala1171Gly) c.3485C>G (p.Ala1162Gly) c.3431C>G (p.Ala1144Gly) c.2831C>G (p.Ala944Gly) c.3779C>G (p.Ala1260Gly) c.3776C>G (p.Ala1259Gly) c.3695C>G (p.Ala1232Gly) c.3626C>G (p.Ala1209Gly) c.3494C>G (p.Ala1165Gly) c.3362C>G (p.Ala1121Gly) | |
20 | g.32436227C>T | CA408563226 | ASXL1 | c.3515C>T (p.Ala1172Val) c.3332C>T (p.Ala1111Val) n.5868C>T c.1869+1646C>T (n.1869+1646C>T) c.3500C>T (p.Ala1167Val) c.3512C>T (p.Ala1171Val) c.3485C>T (p.Ala1162Val) c.3431C>T (p.Ala1144Val) c.2831C>T (p.Ala944Val) c.3779C>T (p.Ala1260Val) c.3776C>T (p.Ala1259Val) c.3695C>T (p.Ala1232Val) c.3626C>T (p.Ala1209Val) c.3494C>T (p.Ala1165Val) c.3362C>T (p.Ala1121Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436228T>A | CA510467303 | ASXL1 | c.3516T>A (p.Ala1172=) c.3333T>A (p.Ala1111=) n.5869T>A c.1869+1647T>A (n.1869+1647T>A) c.3501T>A (p.Ala1167=) c.3513T>A (p.Ala1171=) c.3486T>A (p.Ala1162=) c.3432T>A (p.Ala1144=) c.2832T>A (p.Ala944=) c.3780T>A (p.Ala1260=) c.3777T>A (p.Ala1259=) c.3696T>A (p.Ala1232=) c.3627T>A (p.Ala1209=) c.3495T>A (p.Ala1165=) c.3363T>A (p.Ala1121=) | |
20 | g.32436228T>C | CA510467305 | ASXL1 | c.3516T>C (p.Ala1172=) c.3333T>C (p.Ala1111=) n.5869T>C c.1869+1647T>C (n.1869+1647T>C) c.3501T>C (p.Ala1167=) c.3513T>C (p.Ala1171=) c.3486T>C (p.Ala1162=) c.3432T>C (p.Ala1144=) c.2832T>C (p.Ala944=) c.3780T>C (p.Ala1260=) c.3777T>C (p.Ala1259=) c.3696T>C (p.Ala1232=) c.3627T>C (p.Ala1209=) c.3495T>C (p.Ala1165=) c.3363T>C (p.Ala1121=) | |
20 | g.32436228T>G | CA313926346 | ASXL1 | c.3516T>G (p.Ala1172=) c.3333T>G (p.Ala1111=) n.5869T>G c.1869+1647T>G (n.1869+1647T>G) c.3501T>G (p.Ala1167=) c.3513T>G (p.Ala1171=) c.3486T>G (p.Ala1162=) c.3432T>G (p.Ala1144=) c.2832T>G (p.Ala944=) c.3780T>G (p.Ala1260=) c.3777T>G (p.Ala1259=) c.3696T>G (p.Ala1232=) c.3627T>G (p.Ala1209=) c.3495T>G (p.Ala1165=) c.3363T>G (p.Ala1121=) | ClinVar dbSNP gnomAD v4 |
20 | g.32436228T= | CA2360293599 | ASXL1 | c.3516T= (p.Ala1172=) c.3333T= (p.Ala1111=) n.5869T= c.1869+1647T= (n.1869+1647T=) c.3501T= (p.Ala1167=) c.3513T= (p.Ala1171=) c.3486T= (p.Ala1162=) c.3432T= (p.Ala1144=) c.2832T= (p.Ala944=) c.3780T= (p.Ala1260=) c.3777T= (p.Ala1259=) c.3696T= (p.Ala1232=) c.3627T= (p.Ala1209=) c.3495T= (p.Ala1165=) c.3363T= (p.Ala1121=) | |
20 | g.32436229T>A | CA408563228 | ASXL1 | c.3517T>A (p.Leu1173Met) c.3334T>A (p.Leu1112Met) n.5870T>A c.1869+1648T>A (n.1869+1648T>A) c.3502T>A (p.Leu1168Met) c.3514T>A (p.Leu1172Met) c.3487T>A (p.Leu1163Met) c.3433T>A (p.Leu1145Met) c.2833T>A (p.Leu945Met) c.3781T>A (p.Leu1261Met) c.3778T>A (p.Leu1260Met) c.3697T>A (p.Leu1233Met) c.3628T>A (p.Leu1210Met) c.3496T>A (p.Leu1166Met) c.3364T>A (p.Leu1122Met) | gnomAD v4 |
20 | g.32436229T>C | CA510467306 | ASXL1 | c.3517T>C (p.Leu1173=) c.3334T>C (p.Leu1112=) n.5870T>C c.1869+1648T>C (n.1869+1648T>C) c.3502T>C (p.Leu1168=) c.3514T>C (p.Leu1172=) c.3487T>C (p.Leu1163=) c.3433T>C (p.Leu1145=) c.2833T>C (p.Leu945=) c.3781T>C (p.Leu1261=) c.3778T>C (p.Leu1260=) c.3697T>C (p.Leu1233=) c.3628T>C (p.Leu1210=) c.3496T>C (p.Leu1166=) c.3364T>C (p.Leu1122=) | |
20 | g.32436229T>G | CA408563227 | ASXL1 | c.3517T>G (p.Leu1173Val) c.3334T>G (p.Leu1112Val) n.5870T>G c.1869+1648T>G (n.1869+1648T>G) c.3502T>G (p.Leu1168Val) c.3514T>G (p.Leu1172Val) c.3487T>G (p.Leu1163Val) c.3433T>G (p.Leu1145Val) c.2833T>G (p.Leu945Val) c.3781T>G (p.Leu1261Val) c.3778T>G (p.Leu1260Val) c.3697T>G (p.Leu1233Val) c.3628T>G (p.Leu1210Val) c.3496T>G (p.Leu1166Val) c.3364T>G (p.Leu1122Val) | |
20 | g.32436230T>A | CA408563229 | ASXL1 | c.3518T>A (p.Leu1173Ter) c.3335T>A (p.Leu1112Ter) n.5871T>A c.1869+1649T>A (n.1869+1649T>A) c.3503T>A (p.Leu1168Ter) c.3515T>A (p.Leu1172Ter) c.3488T>A (p.Leu1163Ter) c.3434T>A (p.Leu1145Ter) c.2834T>A (p.Leu945Ter) c.3782T>A (p.Leu1261Ter) c.3779T>A (p.Leu1260Ter) c.3698T>A (p.Leu1233Ter) c.3629T>A (p.Leu1210Ter) c.3497T>A (p.Leu1166Ter) c.3365T>A (p.Leu1122Ter) | |
20 | g.32436230T>C | CA9808843 | ASXL1 | c.3518T>C (p.Leu1173Ser) c.3335T>C (p.Leu1112Ser) n.5871T>C c.1869+1649T>C (n.1869+1649T>C) c.3503T>C (p.Leu1168Ser) c.3515T>C (p.Leu1172Ser) c.3488T>C (p.Leu1163Ser) c.3434T>C (p.Leu1145Ser) c.2834T>C (p.Leu945Ser) c.3782T>C (p.Leu1261Ser) c.3779T>C (p.Leu1260Ser) c.3698T>C (p.Leu1233Ser) c.3629T>C (p.Leu1210Ser) c.3497T>C (p.Leu1166Ser) c.3365T>C (p.Leu1122Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32436230T>G | CA408563230 | ASXL1 | c.3518T>G (p.Leu1173Trp) c.3335T>G (p.Leu1112Trp) n.5871T>G c.1869+1649T>G (n.1869+1649T>G) c.3503T>G (p.Leu1168Trp) c.3515T>G (p.Leu1172Trp) c.3488T>G (p.Leu1163Trp) c.3434T>G (p.Leu1145Trp) c.2834T>G (p.Leu945Trp) c.3782T>G (p.Leu1261Trp) c.3779T>G (p.Leu1260Trp) c.3698T>G (p.Leu1233Trp) c.3629T>G (p.Leu1210Trp) c.3497T>G (p.Leu1166Trp) c.3365T>G (p.Leu1122Trp) | |
20 | g.32436230T= | CA2360293600 | ASXL1 | c.3518T= (p.Leu1173=) c.3335T= (p.Leu1112=) n.5871T= c.1869+1649T= (n.1869+1649T=) c.3503T= (p.Leu1168=) c.3515T= (p.Leu1172=) c.3488T= (p.Leu1163=) c.3434T= (p.Leu1145=) c.2834T= (p.Leu945=) c.3782T= (p.Leu1261=) c.3779T= (p.Leu1260=) c.3698T= (p.Leu1233=) c.3629T= (p.Leu1210=) c.3497T= (p.Leu1166=) c.3365T= (p.Leu1122=) | |
20 | g.32436231G>A | CA9808844 | ASXL1 | c.3519G>A (p.Leu1173=) c.3336G>A (p.Leu1112=) n.5872G>A c.1869+1650G>A (n.1869+1650G>A) c.3504G>A (p.Leu1168=) c.3516G>A (p.Leu1172=) c.3489G>A (p.Leu1163=) c.3435G>A (p.Leu1145=) c.2835G>A (p.Leu945=) c.3783G>A (p.Leu1261=) c.3780G>A (p.Leu1260=) c.3699G>A (p.Leu1233=) c.3630G>A (p.Leu1210=) c.3498G>A (p.Leu1166=) c.3366G>A (p.Leu1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436231G>C | CA408563231 | ASXL1 | c.3519G>C (p.Leu1173Phe) c.3336G>C (p.Leu1112Phe) n.5872G>C c.1869+1650G>C (n.1869+1650G>C) c.3504G>C (p.Leu1168Phe) c.3516G>C (p.Leu1172Phe) c.3489G>C (p.Leu1163Phe) c.3435G>C (p.Leu1145Phe) c.2835G>C (p.Leu945Phe) c.3783G>C (p.Leu1261Phe) c.3780G>C (p.Leu1260Phe) c.3699G>C (p.Leu1233Phe) c.3630G>C (p.Leu1210Phe) c.3498G>C (p.Leu1166Phe) c.3366G>C (p.Leu1122Phe) | COSMIC |
20 | g.32436231G= | CA2360293601 | ASXL1 | c.3519G= (p.Leu1173=) c.3336G= (p.Leu1112=) n.5872G= c.1869+1650G= (n.1869+1650G=) c.3504G= (p.Leu1168=) c.3516G= (p.Leu1172=) c.3489G= (p.Leu1163=) c.3435G= (p.Leu1145=) c.2835G= (p.Leu945=) c.3783G= (p.Leu1261=) c.3780G= (p.Leu1260=) c.3699G= (p.Leu1233=) c.3630G= (p.Leu1210=) c.3498G= (p.Leu1166=) c.3366G= (p.Leu1122=) | |
20 | g.32436231G>T | CA408563232 | ASXL1 | c.3519G>T (p.Leu1173Phe) c.3336G>T (p.Leu1112Phe) n.5872G>T c.1869+1650G>T (n.1869+1650G>T) c.3504G>T (p.Leu1168Phe) c.3516G>T (p.Leu1172Phe) c.3489G>T (p.Leu1163Phe) c.3435G>T (p.Leu1145Phe) c.2835G>T (p.Leu945Phe) c.3783G>T (p.Leu1261Phe) c.3780G>T (p.Leu1260Phe) c.3699G>T (p.Leu1233Phe) c.3630G>T (p.Leu1210Phe) c.3498G>T (p.Leu1166Phe) c.3366G>T (p.Leu1122Phe) | |
20 | g.32436232A>C | CA408563233 | ASXL1 | c.3520A>C (p.Lys1174Gln) c.3337A>C (p.Lys1113Gln) n.5873A>C c.1869+1651A>C (n.1869+1651A>C) c.3505A>C (p.Lys1169Gln) c.3517A>C (p.Lys1173Gln) c.3490A>C (p.Lys1164Gln) c.3436A>C (p.Lys1146Gln) c.2836A>C (p.Lys946Gln) c.3784A>C (p.Lys1262Gln) c.3781A>C (p.Lys1261Gln) c.3700A>C (p.Lys1234Gln) c.3631A>C (p.Lys1211Gln) c.3499A>C (p.Lys1167Gln) c.3367A>C (p.Lys1123Gln) | |
20 | g.32436232A>G | CA408563234 | ASXL1 | c.3520A>G (p.Lys1174Glu) c.3337A>G (p.Lys1113Glu) n.5873A>G c.1869+1651A>G (n.1869+1651A>G) c.3505A>G (p.Lys1169Glu) c.3517A>G (p.Lys1173Glu) c.3490A>G (p.Lys1164Glu) c.3436A>G (p.Lys1146Glu) c.2836A>G (p.Lys946Glu) c.3784A>G (p.Lys1262Glu) c.3781A>G (p.Lys1261Glu) c.3700A>G (p.Lys1234Glu) c.3631A>G (p.Lys1211Glu) c.3499A>G (p.Lys1167Glu) c.3367A>G (p.Lys1123Glu) | |
20 | g.32436232A>T | CA408563235 | ASXL1 | c.3520A>T (p.Lys1174Ter) c.3337A>T (p.Lys1113Ter) n.5873A>T c.1869+1651A>T (n.1869+1651A>T) c.3505A>T (p.Lys1169Ter) c.3517A>T (p.Lys1173Ter) c.3490A>T (p.Lys1164Ter) c.3436A>T (p.Lys1146Ter) c.2836A>T (p.Lys946Ter) c.3784A>T (p.Lys1262Ter) c.3781A>T (p.Lys1261Ter) c.3700A>T (p.Lys1234Ter) c.3631A>T (p.Lys1211Ter) c.3499A>T (p.Lys1167Ter) c.3367A>T (p.Lys1123Ter) | |
20 | g.32436233A>C | CA408563236 | ASXL1 | c.3521A>C (p.Lys1174Thr) c.3338A>C (p.Lys1113Thr) n.5874A>C c.1869+1652A>C (n.1869+1652A>C) c.3506A>C (p.Lys1169Thr) c.3518A>C (p.Lys1173Thr) c.3491A>C (p.Lys1164Thr) c.3437A>C (p.Lys1146Thr) c.2837A>C (p.Lys946Thr) c.3785A>C (p.Lys1262Thr) c.3782A>C (p.Lys1261Thr) c.3701A>C (p.Lys1234Thr) c.3632A>C (p.Lys1211Thr) c.3500A>C (p.Lys1167Thr) c.3368A>C (p.Lys1123Thr) | |
20 | g.32436233A>G | CA408563237 | ASXL1 | c.3521A>G (p.Lys1174Arg) c.3338A>G (p.Lys1113Arg) n.5874A>G c.1869+1652A>G (n.1869+1652A>G) c.3506A>G (p.Lys1169Arg) c.3518A>G (p.Lys1173Arg) c.3491A>G (p.Lys1164Arg) c.3437A>G (p.Lys1146Arg) c.2837A>G (p.Lys946Arg) c.3785A>G (p.Lys1262Arg) c.3782A>G (p.Lys1261Arg) c.3701A>G (p.Lys1234Arg) c.3632A>G (p.Lys1211Arg) c.3500A>G (p.Lys1167Arg) c.3368A>G (p.Lys1123Arg) | |
20 | g.32436233A>T | CA408563238 | ASXL1 | c.3521A>T (p.Lys1174Met) c.3338A>T (p.Lys1113Met) n.5874A>T c.1869+1652A>T (n.1869+1652A>T) c.3506A>T (p.Lys1169Met) c.3518A>T (p.Lys1173Met) c.3491A>T (p.Lys1164Met) c.3437A>T (p.Lys1146Met) c.2837A>T (p.Lys946Met) c.3785A>T (p.Lys1262Met) c.3782A>T (p.Lys1261Met) c.3701A>T (p.Lys1234Met) c.3632A>T (p.Lys1211Met) c.3500A>T (p.Lys1167Met) c.3368A>T (p.Lys1123Met) | |
20 | g.32436234G>A | CA9808846 | ASXL1 | c.3522G>A (p.Lys1174=) c.3339G>A (p.Lys1113=) n.5875G>A c.1869+1653G>A (n.1869+1653G>A) c.3507G>A (p.Lys1169=) c.3519G>A (p.Lys1173=) c.3492G>A (p.Lys1164=) c.3438G>A (p.Lys1146=) c.2838G>A (p.Lys946=) c.3786G>A (p.Lys1262=) c.3783G>A (p.Lys1261=) c.3702G>A (p.Lys1234=) c.3633G>A (p.Lys1211=) c.3501G>A (p.Lys1167=) c.3369G>A (p.Lys1123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436234G>C | CA9808845 | ASXL1 | c.3522G>C (p.Lys1174Asn) c.3339G>C (p.Lys1113Asn) n.5875G>C c.1869+1653G>C (n.1869+1653G>C) c.3507G>C (p.Lys1169Asn) c.3519G>C (p.Lys1173Asn) c.3492G>C (p.Lys1164Asn) c.3438G>C (p.Lys1146Asn) c.2838G>C (p.Lys946Asn) c.3786G>C (p.Lys1262Asn) c.3783G>C (p.Lys1261Asn) c.3702G>C (p.Lys1234Asn) c.3633G>C (p.Lys1211Asn) c.3501G>C (p.Lys1167Asn) c.3369G>C (p.Lys1123Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436234G= | CA2360293602 | ASXL1 | c.3522G= (p.Lys1174=) c.3339G= (p.Lys1113=) n.5875G= c.1869+1653G= (n.1869+1653G=) c.3507G= (p.Lys1169=) c.3519G= (p.Lys1173=) c.3492G= (p.Lys1164=) c.3438G= (p.Lys1146=) c.2838G= (p.Lys946=) c.3786G= (p.Lys1262=) c.3783G= (p.Lys1261=) c.3702G= (p.Lys1234=) c.3633G= (p.Lys1211=) c.3501G= (p.Lys1167=) c.3369G= (p.Lys1123=) | |
20 | g.32436234G>T | CA408563240 | ASXL1 | c.3522G>T (p.Lys1174Asn) c.3339G>T (p.Lys1113Asn) n.5875G>T c.1869+1653G>T (n.1869+1653G>T) c.3507G>T (p.Lys1169Asn) c.3519G>T (p.Lys1173Asn) c.3492G>T (p.Lys1164Asn) c.3438G>T (p.Lys1146Asn) c.2838G>T (p.Lys946Asn) c.3786G>T (p.Lys1262Asn) c.3783G>T (p.Lys1261Asn) c.3702G>T (p.Lys1234Asn) c.3633G>T (p.Lys1211Asn) c.3501G>T (p.Lys1167Asn) c.3369G>T (p.Lys1123Asn) | |
20 | g.32436235G>A | CA408563243 | ASXL1 | c.3523G>A (p.Glu1175Lys) c.3340G>A (p.Glu1114Lys) n.5876G>A c.1869+1654G>A (n.1869+1654G>A) c.3508G>A (p.Glu1170Lys) c.3520G>A (p.Glu1174Lys) c.3493G>A (p.Glu1165Lys) c.3439G>A (p.Glu1147Lys) c.2839G>A (p.Glu947Lys) c.3787G>A (p.Glu1263Lys) c.3784G>A (p.Glu1262Lys) c.3703G>A (p.Glu1235Lys) c.3634G>A (p.Glu1212Lys) c.3502G>A (p.Glu1168Lys) c.3370G>A (p.Glu1124Lys) | dbSNP |
20 | g.32436235G>C | CA408563241 | ASXL1 | c.3523G>C (p.Glu1175Gln) c.3340G>C (p.Glu1114Gln) n.5876G>C c.1869+1654G>C (n.1869+1654G>C) c.3508G>C (p.Glu1170Gln) c.3520G>C (p.Glu1174Gln) c.3493G>C (p.Glu1165Gln) c.3439G>C (p.Glu1147Gln) c.2839G>C (p.Glu947Gln) c.3787G>C (p.Glu1263Gln) c.3784G>C (p.Glu1262Gln) c.3703G>C (p.Glu1235Gln) c.3634G>C (p.Glu1212Gln) c.3502G>C (p.Glu1168Gln) c.3370G>C (p.Glu1124Gln) | |
20 | g.32436235G= | CA2360293603 | ASXL1 | c.3523G= (p.Glu1175=) c.3340G= (p.Glu1114=) n.5876G= c.1869+1654G= (n.1869+1654G=) c.3508G= (p.Glu1170=) c.3520G= (p.Glu1174=) c.3493G= (p.Glu1165=) c.3439G= (p.Glu1147=) c.2839G= (p.Glu947=) c.3787G= (p.Glu1263=) c.3784G= (p.Glu1262=) c.3703G= (p.Glu1235=) c.3634G= (p.Glu1212=) c.3502G= (p.Glu1168=) c.3370G= (p.Glu1124=) | |
20 | g.32436235G>T | CA408563242 | ASXL1 | c.3523G>T (p.Glu1175Ter) c.3340G>T (p.Glu1114Ter) n.5876G>T c.1869+1654G>T (n.1869+1654G>T) c.3508G>T (p.Glu1170Ter) c.3520G>T (p.Glu1174Ter) c.3493G>T (p.Glu1165Ter) c.3439G>T (p.Glu1147Ter) c.2839G>T (p.Glu947Ter) c.3787G>T (p.Glu1263Ter) c.3784G>T (p.Glu1262Ter) c.3703G>T (p.Glu1235Ter) c.3634G>T (p.Glu1212Ter) c.3502G>T (p.Glu1168Ter) c.3370G>T (p.Glu1124Ter) | |
20 | g.32436236A>C | CA408563244 | ASXL1 | c.3524A>C (p.Glu1175Ala) c.3341A>C (p.Glu1114Ala) n.5877A>C c.1869+1655A>C (n.1869+1655A>C) c.3509A>C (p.Glu1170Ala) c.3521A>C (p.Glu1174Ala) c.3494A>C (p.Glu1165Ala) c.3440A>C (p.Glu1147Ala) c.2840A>C (p.Glu947Ala) c.3788A>C (p.Glu1263Ala) c.3785A>C (p.Glu1262Ala) c.3704A>C (p.Glu1235Ala) c.3635A>C (p.Glu1212Ala) c.3503A>C (p.Glu1168Ala) c.3371A>C (p.Glu1124Ala) | |
20 | g.32436236A>G | CA408563245 | ASXL1 | c.3524A>G (p.Glu1175Gly) c.3341A>G (p.Glu1114Gly) n.5877A>G c.1869+1655A>G (n.1869+1655A>G) c.3509A>G (p.Glu1170Gly) c.3521A>G (p.Glu1174Gly) c.3494A>G (p.Glu1165Gly) c.3440A>G (p.Glu1147Gly) c.2840A>G (p.Glu947Gly) c.3788A>G (p.Glu1263Gly) c.3785A>G (p.Glu1262Gly) c.3704A>G (p.Glu1235Gly) c.3635A>G (p.Glu1212Gly) c.3503A>G (p.Glu1168Gly) c.3371A>G (p.Glu1124Gly) | dbSNP |
20 | g.32436236A>T | CA408563246 | ASXL1 | c.3524A>T (p.Glu1175Val) c.3341A>T (p.Glu1114Val) n.5877A>T c.1869+1655A>T (n.1869+1655A>T) c.3509A>T (p.Glu1170Val) c.3521A>T (p.Glu1174Val) c.3494A>T (p.Glu1165Val) c.3440A>T (p.Glu1147Val) c.2840A>T (p.Glu947Val) c.3788A>T (p.Glu1263Val) c.3785A>T (p.Glu1262Val) c.3704A>T (p.Glu1235Val) c.3635A>T (p.Glu1212Val) c.3503A>T (p.Glu1168Val) c.3371A>T (p.Glu1124Val) | |
20 | g.32436237G>A | CA510467315 | ASXL1 | c.3525G>A (p.Glu1175=) c.3342G>A (p.Glu1114=) n.5878G>A c.1869+1656G>A (n.1869+1656G>A) c.3510G>A (p.Glu1170=) c.3522G>A (p.Glu1174=) c.3495G>A (p.Glu1165=) c.3441G>A (p.Glu1147=) c.2841G>A (p.Glu947=) c.3789G>A (p.Glu1263=) c.3786G>A (p.Glu1262=) c.3705G>A (p.Glu1235=) c.3636G>A (p.Glu1212=) c.3504G>A (p.Glu1168=) c.3372G>A (p.Glu1124=) | dbSNP |
20 | g.32436237G>C | CA408563247 | ASXL1 | c.3525G>C (p.Glu1175Asp) c.3342G>C (p.Glu1114Asp) n.5878G>C c.1869+1656G>C (n.1869+1656G>C) c.3510G>C (p.Glu1170Asp) c.3522G>C (p.Glu1174Asp) c.3495G>C (p.Glu1165Asp) c.3441G>C (p.Glu1147Asp) c.2841G>C (p.Glu947Asp) c.3789G>C (p.Glu1263Asp) c.3786G>C (p.Glu1262Asp) c.3705G>C (p.Glu1235Asp) c.3636G>C (p.Glu1212Asp) c.3504G>C (p.Glu1168Asp) c.3372G>C (p.Glu1124Asp) | |
20 | g.32436237G= | CA2360293604 | ASXL1 | c.3525G= (p.Glu1175=) c.3342G= (p.Glu1114=) n.5878G= c.1869+1656G= (n.1869+1656G=) c.3510G= (p.Glu1170=) c.3522G= (p.Glu1174=) c.3495G= (p.Glu1165=) c.3441G= (p.Glu1147=) c.2841G= (p.Glu947=) c.3789G= (p.Glu1263=) c.3786G= (p.Glu1262=) c.3705G= (p.Glu1235=) c.3636G= (p.Glu1212=) c.3504G= (p.Glu1168=) c.3372G= (p.Glu1124=) | |
20 | g.32436237G>T | CA408563248 | ASXL1 | c.3525G>T (p.Glu1175Asp) c.3342G>T (p.Glu1114Asp) n.5878G>T c.1869+1656G>T (n.1869+1656G>T) c.3510G>T (p.Glu1170Asp) c.3522G>T (p.Glu1174Asp) c.3495G>T (p.Glu1165Asp) c.3441G>T (p.Glu1147Asp) c.2841G>T (p.Glu947Asp) c.3789G>T (p.Glu1263Asp) c.3786G>T (p.Glu1262Asp) c.3705G>T (p.Glu1235Asp) c.3636G>T (p.Glu1212Asp) c.3504G>T (p.Glu1168Asp) c.3372G>T (p.Glu1124Asp) | dbSNP |
20 | g.32436238C>A | CA408563249 | ASXL1 | c.3526C>A (p.Pro1176Thr) c.3343C>A (p.Pro1115Thr) n.5879C>A c.1869+1657C>A (n.1869+1657C>A) c.3511C>A (p.Pro1171Thr) c.3523C>A (p.Pro1175Thr) c.3496C>A (p.Pro1166Thr) c.3442C>A (p.Pro1148Thr) c.2842C>A (p.Pro948Thr) c.3790C>A (p.Pro1264Thr) c.3787C>A (p.Pro1263Thr) c.3706C>A (p.Pro1236Thr) c.3637C>A (p.Pro1213Thr) c.3505C>A (p.Pro1169Thr) c.3373C>A (p.Pro1125Thr) | dbSNP |
20 | g.32436238C= | CA2360293605 | ASXL1 | c.3526C= (p.Pro1176=) c.3343C= (p.Pro1115=) n.5879C= c.1869+1657C= (n.1869+1657C=) c.3511C= (p.Pro1171=) c.3523C= (p.Pro1175=) c.3496C= (p.Pro1166=) c.3442C= (p.Pro1148=) c.2842C= (p.Pro948=) c.3790C= (p.Pro1264=) c.3787C= (p.Pro1263=) c.3706C= (p.Pro1236=) c.3637C= (p.Pro1213=) c.3505C= (p.Pro1169=) c.3373C= (p.Pro1125=) | |
20 | g.32436238C>G | CA408563250 | ASXL1 | c.3526C>G (p.Pro1176Ala) c.3343C>G (p.Pro1115Ala) n.5879C>G c.1869+1657C>G (n.1869+1657C>G) c.3511C>G (p.Pro1171Ala) c.3523C>G (p.Pro1175Ala) c.3496C>G (p.Pro1166Ala) c.3442C>G (p.Pro1148Ala) c.2842C>G (p.Pro948Ala) c.3790C>G (p.Pro1264Ala) c.3787C>G (p.Pro1263Ala) c.3706C>G (p.Pro1236Ala) c.3637C>G (p.Pro1213Ala) c.3505C>G (p.Pro1169Ala) c.3373C>G (p.Pro1125Ala) | |
20 | g.32436238C>T | CA408563251 | ASXL1 | c.3526C>T (p.Pro1176Ser) c.3343C>T (p.Pro1115Ser) n.5879C>T c.1869+1657C>T (n.1869+1657C>T) c.3511C>T (p.Pro1171Ser) c.3523C>T (p.Pro1175Ser) c.3496C>T (p.Pro1166Ser) c.3442C>T (p.Pro1148Ser) c.2842C>T (p.Pro948Ser) c.3790C>T (p.Pro1264Ser) c.3787C>T (p.Pro1263Ser) c.3706C>T (p.Pro1236Ser) c.3637C>T (p.Pro1213Ser) c.3505C>T (p.Pro1169Ser) c.3373C>T (p.Pro1125Ser) | dbSNP |
20 | g.32436239C>A | CA408563252 | ASXL1 | c.3527C>A (p.Pro1176His) c.3344C>A (p.Pro1115His) n.5880C>A c.1869+1658C>A (n.1869+1658C>A) c.3512C>A (p.Pro1171His) c.3524C>A (p.Pro1175His) c.3497C>A (p.Pro1166His) c.3443C>A (p.Pro1148His) c.2843C>A (p.Pro948His) c.3791C>A (p.Pro1264His) c.3788C>A (p.Pro1263His) c.3707C>A (p.Pro1236His) c.3638C>A (p.Pro1213His) c.3506C>A (p.Pro1169His) c.3374C>A (p.Pro1125His) | |
20 | g.32436239C>G | CA408563253 | ASXL1 | c.3527C>G (p.Pro1176Arg) c.3344C>G (p.Pro1115Arg) n.5880C>G c.1869+1658C>G (n.1869+1658C>G) c.3512C>G (p.Pro1171Arg) c.3524C>G (p.Pro1175Arg) c.3497C>G (p.Pro1166Arg) c.3443C>G (p.Pro1148Arg) c.2843C>G (p.Pro948Arg) c.3791C>G (p.Pro1264Arg) c.3788C>G (p.Pro1263Arg) c.3707C>G (p.Pro1236Arg) c.3638C>G (p.Pro1213Arg) c.3506C>G (p.Pro1169Arg) c.3374C>G (p.Pro1125Arg) | |
20 | g.32436239C>T | CA408563254 | ASXL1 | c.3527C>T (p.Pro1176Leu) c.3344C>T (p.Pro1115Leu) n.5880C>T c.1869+1658C>T (n.1869+1658C>T) c.3512C>T (p.Pro1171Leu) c.3524C>T (p.Pro1175Leu) c.3497C>T (p.Pro1166Leu) c.3443C>T (p.Pro1148Leu) c.2843C>T (p.Pro948Leu) c.3791C>T (p.Pro1264Leu) c.3788C>T (p.Pro1263Leu) c.3707C>T (p.Pro1236Leu) c.3638C>T (p.Pro1213Leu) c.3506C>T (p.Pro1169Leu) c.3374C>T (p.Pro1125Leu) | gnomAD v4 |
20 | g.32436240T>A | CA510467320 | ASXL1 | c.3528T>A (p.Pro1176=) c.3345T>A (p.Pro1115=) n.5881T>A c.1869+1659T>A (n.1869+1659T>A) c.3513T>A (p.Pro1171=) c.3525T>A (p.Pro1175=) c.3498T>A (p.Pro1166=) c.3444T>A (p.Pro1148=) c.2844T>A (p.Pro948=) c.3792T>A (p.Pro1264=) c.3789T>A (p.Pro1263=) c.3708T>A (p.Pro1236=) c.3639T>A (p.Pro1213=) c.3507T>A (p.Pro1169=) c.3375T>A (p.Pro1125=) | |
20 | g.32436240T>C | CA510467322 | ASXL1 | c.3528T>C (p.Pro1176=) c.3345T>C (p.Pro1115=) n.5881T>C c.1869+1659T>C (n.1869+1659T>C) c.3513T>C (p.Pro1171=) c.3525T>C (p.Pro1175=) c.3498T>C (p.Pro1166=) c.3444T>C (p.Pro1148=) c.2844T>C (p.Pro948=) c.3792T>C (p.Pro1264=) c.3789T>C (p.Pro1263=) c.3708T>C (p.Pro1236=) c.3639T>C (p.Pro1213=) c.3507T>C (p.Pro1169=) c.3375T>C (p.Pro1125=) | gnomAD v4 |
20 | g.32436240T>G | CA510467323 | ASXL1 | c.3528T>G (p.Pro1176=) c.3345T>G (p.Pro1115=) n.5881T>G c.1869+1659T>G (n.1869+1659T>G) c.3513T>G (p.Pro1171=) c.3525T>G (p.Pro1175=) c.3498T>G (p.Pro1166=) c.3444T>G (p.Pro1148=) c.2844T>G (p.Pro948=) c.3792T>G (p.Pro1264=) c.3789T>G (p.Pro1263=) c.3708T>G (p.Pro1236=) c.3639T>G (p.Pro1213=) c.3507T>G (p.Pro1169=) c.3375T>G (p.Pro1125=) | |
20 | g.32436241C>A | CA408563257 | ASXL1 | c.3529C>A (p.Leu1177Ile) c.3346C>A (p.Leu1116Ile) n.5882C>A c.1869+1660C>A (n.1869+1660C>A) c.3514C>A (p.Leu1172Ile) c.3526C>A (p.Leu1176Ile) c.3499C>A (p.Leu1167Ile) c.3445C>A (p.Leu1149Ile) c.2845C>A (p.Leu949Ile) c.3793C>A (p.Leu1265Ile) c.3790C>A (p.Leu1264Ile) c.3709C>A (p.Leu1237Ile) c.3640C>A (p.Leu1214Ile) c.3508C>A (p.Leu1170Ile) c.3376C>A (p.Leu1126Ile) | |
20 | g.32436241C>G | CA408563256 | ASXL1 | c.3529C>G (p.Leu1177Val) c.3346C>G (p.Leu1116Val) n.5882C>G c.1869+1660C>G (n.1869+1660C>G) c.3514C>G (p.Leu1172Val) c.3526C>G (p.Leu1176Val) c.3499C>G (p.Leu1167Val) c.3445C>G (p.Leu1149Val) c.2845C>G (p.Leu949Val) c.3793C>G (p.Leu1265Val) c.3790C>G (p.Leu1264Val) c.3709C>G (p.Leu1237Val) c.3640C>G (p.Leu1214Val) c.3508C>G (p.Leu1170Val) c.3376C>G (p.Leu1126Val) | |
20 | g.32436241C>T | CA408563255 | ASXL1 | c.3529C>T (p.Leu1177Phe) c.3346C>T (p.Leu1116Phe) n.5882C>T c.1869+1660C>T (n.1869+1660C>T) c.3514C>T (p.Leu1172Phe) c.3526C>T (p.Leu1176Phe) c.3499C>T (p.Leu1167Phe) c.3445C>T (p.Leu1149Phe) c.2845C>T (p.Leu949Phe) c.3793C>T (p.Leu1265Phe) c.3790C>T (p.Leu1264Phe) c.3709C>T (p.Leu1237Phe) c.3640C>T (p.Leu1214Phe) c.3508C>T (p.Leu1170Phe) c.3376C>T (p.Leu1126Phe) | gnomAD v4 |
20 | g.32436242T>A | CA408563258 | ASXL1 | c.3530T>A (p.Leu1177His) c.3347T>A (p.Leu1116His) n.5883T>A c.1869+1661T>A (n.1869+1661T>A) c.3515T>A (p.Leu1172His) c.3527T>A (p.Leu1176His) c.3500T>A (p.Leu1167His) c.3446T>A (p.Leu1149His) c.2846T>A (p.Leu949His) c.3794T>A (p.Leu1265His) c.3791T>A (p.Leu1264His) c.3710T>A (p.Leu1237His) c.3641T>A (p.Leu1214His) c.3509T>A (p.Leu1170His) c.3377T>A (p.Leu1126His) | |
20 | g.32436242T>C | CA408563259 | ASXL1 | c.3530T>C (p.Leu1177Pro) c.3347T>C (p.Leu1116Pro) n.5883T>C c.1869+1661T>C (n.1869+1661T>C) c.3515T>C (p.Leu1172Pro) c.3527T>C (p.Leu1176Pro) c.3500T>C (p.Leu1167Pro) c.3446T>C (p.Leu1149Pro) c.2846T>C (p.Leu949Pro) c.3794T>C (p.Leu1265Pro) c.3791T>C (p.Leu1264Pro) c.3710T>C (p.Leu1237Pro) c.3641T>C (p.Leu1214Pro) c.3509T>C (p.Leu1170Pro) c.3377T>C (p.Leu1126Pro) | |
20 | g.32436242T>G | CA408563260 | ASXL1 | c.3530T>G (p.Leu1177Arg) c.3347T>G (p.Leu1116Arg) n.5883T>G c.1869+1661T>G (n.1869+1661T>G) c.3515T>G (p.Leu1172Arg) c.3527T>G (p.Leu1176Arg) c.3500T>G (p.Leu1167Arg) c.3446T>G (p.Leu1149Arg) c.2846T>G (p.Leu949Arg) c.3794T>G (p.Leu1265Arg) c.3791T>G (p.Leu1264Arg) c.3710T>G (p.Leu1237Arg) c.3641T>G (p.Leu1214Arg) c.3509T>G (p.Leu1170Arg) c.3377T>G (p.Leu1126Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436242T= | CA2360293606 | ASXL1 | c.3530T= (p.Leu1177=) c.3347T= (p.Leu1116=) n.5883T= c.1869+1661T= (n.1869+1661T=) c.3515T= (p.Leu1172=) c.3527T= (p.Leu1176=) c.3500T= (p.Leu1167=) c.3446T= (p.Leu1149=) c.2846T= (p.Leu949=) c.3794T= (p.Leu1265=) c.3791T= (p.Leu1264=) c.3710T= (p.Leu1237=) c.3641T= (p.Leu1214=) c.3509T= (p.Leu1170=) c.3377T= (p.Leu1126=) | |
20 | g.32436243T>A | CA510467324 | ASXL1 | c.3531T>A (p.Leu1177=) c.3348T>A (p.Leu1116=) n.5884T>A c.1869+1662T>A (n.1869+1662T>A) c.3516T>A (p.Leu1172=) c.3528T>A (p.Leu1176=) c.3501T>A (p.Leu1167=) c.3447T>A (p.Leu1149=) c.2847T>A (p.Leu949=) c.3795T>A (p.Leu1265=) c.3792T>A (p.Leu1264=) c.3711T>A (p.Leu1237=) c.3642T>A (p.Leu1214=) c.3510T>A (p.Leu1170=) c.3378T>A (p.Leu1126=) | |
20 | g.32436243T>C | CA313926347 | ASXL1 | c.3531T>C (p.Leu1177=) c.3348T>C (p.Leu1116=) n.5884T>C c.1869+1662T>C (n.1869+1662T>C) c.3516T>C (p.Leu1172=) c.3528T>C (p.Leu1176=) c.3501T>C (p.Leu1167=) c.3447T>C (p.Leu1149=) c.2847T>C (p.Leu949=) c.3795T>C (p.Leu1265=) c.3792T>C (p.Leu1264=) c.3711T>C (p.Leu1237=) c.3642T>C (p.Leu1214=) c.3510T>C (p.Leu1170=) c.3378T>C (p.Leu1126=) | dbSNP gnomAD v4 |
20 | g.32436243T>G | CA510467326 | ASXL1 | c.3531T>G (p.Leu1177=) c.3348T>G (p.Leu1116=) n.5884T>G c.1869+1662T>G (n.1869+1662T>G) c.3516T>G (p.Leu1172=) c.3528T>G (p.Leu1176=) c.3501T>G (p.Leu1167=) c.3447T>G (p.Leu1149=) c.2847T>G (p.Leu949=) c.3795T>G (p.Leu1265=) c.3792T>G (p.Leu1264=) c.3711T>G (p.Leu1237=) c.3642T>G (p.Leu1214=) c.3510T>G (p.Leu1170=) c.3378T>G (p.Leu1126=) | |
20 | g.32436243T= | CA2360293607 | ASXL1 | c.3531T= (p.Leu1177=) c.3348T= (p.Leu1116=) n.5884T= c.1869+1662T= (n.1869+1662T=) c.3516T= (p.Leu1172=) c.3528T= (p.Leu1176=) c.3501T= (p.Leu1167=) c.3447T= (p.Leu1149=) c.2847T= (p.Leu949=) c.3795T= (p.Leu1265=) c.3792T= (p.Leu1264=) c.3711T= (p.Leu1237=) c.3642T= (p.Leu1214=) c.3510T= (p.Leu1170=) c.3378T= (p.Leu1126=) | |
20 | g.32436244C>A | CA408563261 | ASXL1 | c.3532C>A (p.Leu1178Met) c.3349C>A (p.Leu1117Met) n.5885C>A c.1869+1663C>A (n.1869+1663C>A) c.3517C>A (p.Leu1173Met) c.3529C>A (p.Leu1177Met) c.3502C>A (p.Leu1168Met) c.3448C>A (p.Leu1150Met) c.2848C>A (p.Leu950Met) c.3796C>A (p.Leu1266Met) c.3793C>A (p.Leu1265Met) c.3712C>A (p.Leu1238Met) c.3643C>A (p.Leu1215Met) c.3511C>A (p.Leu1171Met) c.3379C>A (p.Leu1127Met) | dbSNP |
20 | g.32436244C>G | CA408563262 | ASXL1 | c.3532C>G (p.Leu1178Val) c.3349C>G (p.Leu1117Val) n.5885C>G c.1869+1663C>G (n.1869+1663C>G) c.3517C>G (p.Leu1173Val) c.3529C>G (p.Leu1177Val) c.3502C>G (p.Leu1168Val) c.3448C>G (p.Leu1150Val) c.2848C>G (p.Leu950Val) c.3796C>G (p.Leu1266Val) c.3793C>G (p.Leu1265Val) c.3712C>G (p.Leu1238Val) c.3643C>G (p.Leu1215Val) c.3511C>G (p.Leu1171Val) c.3379C>G (p.Leu1127Val) | |
20 | g.32436244C>T | CA510467327 | ASXL1 | c.3532C>T (p.Leu1178=) c.3349C>T (p.Leu1117=) n.5885C>T c.1869+1663C>T (n.1869+1663C>T) c.3517C>T (p.Leu1173=) c.3529C>T (p.Leu1177=) c.3502C>T (p.Leu1168=) c.3448C>T (p.Leu1150=) c.2848C>T (p.Leu950=) c.3796C>T (p.Leu1266=) c.3793C>T (p.Leu1265=) c.3712C>T (p.Leu1238=) c.3643C>T (p.Leu1215=) c.3511C>T (p.Leu1171=) c.3379C>T (p.Leu1127=) | dbSNP |
20 | g.32436245T>A | CA408563263 | ASXL1 | c.3533T>A (p.Leu1178Gln) c.3350T>A (p.Leu1117Gln) n.5886T>A c.1869+1664T>A (n.1869+1664T>A) c.3518T>A (p.Leu1173Gln) c.3530T>A (p.Leu1177Gln) c.3503T>A (p.Leu1168Gln) c.3449T>A (p.Leu1150Gln) c.2849T>A (p.Leu950Gln) c.3797T>A (p.Leu1266Gln) c.3794T>A (p.Leu1265Gln) c.3713T>A (p.Leu1238Gln) c.3644T>A (p.Leu1215Gln) c.3512T>A (p.Leu1171Gln) c.3380T>A (p.Leu1127Gln) | |
20 | g.32436245T>C | CA408563264 | ASXL1 | c.3533T>C (p.Leu1178Pro) c.3350T>C (p.Leu1117Pro) n.5886T>C c.1869+1664T>C (n.1869+1664T>C) c.3518T>C (p.Leu1173Pro) c.3530T>C (p.Leu1177Pro) c.3503T>C (p.Leu1168Pro) c.3449T>C (p.Leu1150Pro) c.2849T>C (p.Leu950Pro) c.3797T>C (p.Leu1266Pro) c.3794T>C (p.Leu1265Pro) c.3713T>C (p.Leu1238Pro) c.3644T>C (p.Leu1215Pro) c.3512T>C (p.Leu1171Pro) c.3380T>C (p.Leu1127Pro) | |
20 | g.32436245T>G | CA408563265 | ASXL1 | c.3533T>G (p.Leu1178Arg) c.3350T>G (p.Leu1117Arg) n.5886T>G c.1869+1664T>G (n.1869+1664T>G) c.3518T>G (p.Leu1173Arg) c.3530T>G (p.Leu1177Arg) c.3503T>G (p.Leu1168Arg) c.3449T>G (p.Leu1150Arg) c.2849T>G (p.Leu950Arg) c.3797T>G (p.Leu1266Arg) c.3794T>G (p.Leu1265Arg) c.3713T>G (p.Leu1238Arg) c.3644T>G (p.Leu1215Arg) c.3512T>G (p.Leu1171Arg) c.3380T>G (p.Leu1127Arg) | |
20 | g.32436246G>A | CA510467328 | ASXL1 | c.3534G>A (p.Leu1178=) c.3351G>A (p.Leu1117=) n.5887G>A c.1869+1665G>A (n.1869+1665G>A) c.3519G>A (p.Leu1173=) c.3531G>A (p.Leu1177=) c.3504G>A (p.Leu1168=) c.3450G>A (p.Leu1150=) c.2850G>A (p.Leu950=) c.3798G>A (p.Leu1266=) c.3795G>A (p.Leu1265=) c.3714G>A (p.Leu1238=) c.3645G>A (p.Leu1215=) c.3513G>A (p.Leu1171=) c.3381G>A (p.Leu1127=) | dbSNP gnomAD v4 |
20 | g.32436246G>C | CA510467329 | ASXL1 | c.3534G>C (p.Leu1178=) c.3351G>C (p.Leu1117=) n.5887G>C c.1869+1665G>C (n.1869+1665G>C) c.3519G>C (p.Leu1173=) c.3531G>C (p.Leu1177=) c.3504G>C (p.Leu1168=) c.3450G>C (p.Leu1150=) c.2850G>C (p.Leu950=) c.3798G>C (p.Leu1266=) c.3795G>C (p.Leu1265=) c.3714G>C (p.Leu1238=) c.3645G>C (p.Leu1215=) c.3513G>C (p.Leu1171=) c.3381G>C (p.Leu1127=) | |
20 | g.32436246G= | CA2360293608 | ASXL1 | c.3534G= (p.Leu1178=) c.3351G= (p.Leu1117=) n.5887G= c.1869+1665G= (n.1869+1665G=) c.3519G= (p.Leu1173=) c.3531G= (p.Leu1177=) c.3504G= (p.Leu1168=) c.3450G= (p.Leu1150=) c.2850G= (p.Leu950=) c.3798G= (p.Leu1266=) c.3795G= (p.Leu1265=) c.3714G= (p.Leu1238=) c.3645G= (p.Leu1215=) c.3513G= (p.Leu1171=) c.3381G= (p.Leu1127=) | |
20 | g.32436246G>T | CA510467330 | ASXL1 | c.3534G>T (p.Leu1178=) c.3351G>T (p.Leu1117=) n.5887G>T c.1869+1665G>T (n.1869+1665G>T) c.3519G>T (p.Leu1173=) c.3531G>T (p.Leu1177=) c.3504G>T (p.Leu1168=) c.3450G>T (p.Leu1150=) c.2850G>T (p.Leu950=) c.3798G>T (p.Leu1266=) c.3795G>T (p.Leu1265=) c.3714G>T (p.Leu1238=) c.3645G>T (p.Leu1215=) c.3513G>T (p.Leu1171=) c.3381G>T (p.Leu1127=) | dbSNP gnomAD v3 gnomAD v4 |
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 |
20 | g.32436261A>C | CA408563298 | ASXL1 | c.3549A>C (p.Glu1183Asp) c.3366A>C (p.Glu1122Asp) n.5902A>C c.1869+1680A>C (n.1869+1680A>C) c.3534A>C (p.Glu1178Asp) c.3546A>C (p.Glu1182Asp) c.3519A>C (p.Glu1173Asp) c.3465A>C (p.Glu1155Asp) c.2865A>C (p.Glu955Asp) c.3813A>C (p.Glu1271Asp) c.3810A>C (p.Glu1270Asp) c.3729A>C (p.Glu1243Asp) c.3660A>C (p.Glu1220Asp) c.3528A>C (p.Glu1176Asp) c.3396A>C (p.Glu1132Asp) | |
20 | g.32436261A>G | CA510467296 | ASXL1 | c.3549A>G (p.Glu1183=) c.3366A>G (p.Glu1122=) n.5902A>G c.1869+1680A>G (n.1869+1680A>G) c.3534A>G (p.Glu1178=) c.3546A>G (p.Glu1182=) c.3519A>G (p.Glu1173=) c.3465A>G (p.Glu1155=) c.2865A>G (p.Glu955=) c.3813A>G (p.Glu1271=) c.3810A>G (p.Glu1270=) c.3729A>G (p.Glu1243=) c.3660A>G (p.Glu1220=) c.3528A>G (p.Glu1176=) c.3396A>G (p.Glu1132=) | |
20 | g.32436261A>T | CA408563299 | ASXL1 | c.3549A>T (p.Glu1183Asp) c.3366A>T (p.Glu1122Asp) n.5902A>T c.1869+1680A>T (n.1869+1680A>T) c.3534A>T (p.Glu1178Asp) c.3546A>T (p.Glu1182Asp) c.3519A>T (p.Glu1173Asp) c.3465A>T (p.Glu1155Asp) c.2865A>T (p.Glu955Asp) c.3813A>T (p.Glu1271Asp) c.3810A>T (p.Glu1270Asp) c.3729A>T (p.Glu1243Asp) c.3660A>T (p.Glu1220Asp) c.3528A>T (p.Glu1176Asp) c.3396A>T (p.Glu1132Asp) | |
20 | g.32436262A>C | CA408563302 | ASXL1 | c.3550A>C (p.Thr1184Pro) c.3367A>C (p.Thr1123Pro) n.5903A>C c.1869+1681A>C (n.1869+1681A>C) c.3535A>C (p.Thr1179Pro) c.3547A>C (p.Thr1183Pro) c.3520A>C (p.Thr1174Pro) c.3466A>C (p.Thr1156Pro) c.2866A>C (p.Thr956Pro) c.3814A>C (p.Thr1272Pro) c.3811A>C (p.Thr1271Pro) c.3730A>C (p.Thr1244Pro) c.3661A>C (p.Thr1221Pro) c.3529A>C (p.Thr1177Pro) c.3397A>C (p.Thr1133Pro) | |
20 | g.32436262A>G | CA408563301 | ASXL1 | c.3550A>G (p.Thr1184Ala) c.3367A>G (p.Thr1123Ala) n.5903A>G c.1869+1681A>G (n.1869+1681A>G) c.3535A>G (p.Thr1179Ala) c.3547A>G (p.Thr1183Ala) c.3520A>G (p.Thr1174Ala) c.3466A>G (p.Thr1156Ala) c.2866A>G (p.Thr956Ala) c.3814A>G (p.Thr1272Ala) c.3811A>G (p.Thr1271Ala) c.3730A>G (p.Thr1244Ala) c.3661A>G (p.Thr1221Ala) c.3529A>G (p.Thr1177Ala) c.3397A>G (p.Thr1133Ala) | |
20 | g.32436262A>T | CA408563300 | ASXL1 | c.3550A>T (p.Thr1184Ser) c.3367A>T (p.Thr1123Ser) n.5903A>T c.1869+1681A>T (n.1869+1681A>T) c.3535A>T (p.Thr1179Ser) c.3547A>T (p.Thr1183Ser) c.3520A>T (p.Thr1174Ser) c.3466A>T (p.Thr1156Ser) c.2866A>T (p.Thr956Ser) c.3814A>T (p.Thr1272Ser) c.3811A>T (p.Thr1271Ser) c.3730A>T (p.Thr1244Ser) c.3661A>T (p.Thr1221Ser) c.3529A>T (p.Thr1177Ser) c.3397A>T (p.Thr1133Ser) | |
20 | g.32436263C>A | CA408563303 | ASXL1 | c.3551C>A (p.Thr1184Lys) c.3368C>A (p.Thr1123Lys) n.5904C>A c.1869+1682C>A (n.1869+1682C>A) c.3536C>A (p.Thr1179Lys) c.3548C>A (p.Thr1183Lys) c.3521C>A (p.Thr1174Lys) c.3467C>A (p.Thr1156Lys) c.2867C>A (p.Thr956Lys) c.3815C>A (p.Thr1272Lys) c.3812C>A (p.Thr1271Lys) c.3731C>A (p.Thr1244Lys) c.3662C>A (p.Thr1221Lys) c.3530C>A (p.Thr1177Lys) c.3398C>A (p.Thr1133Lys) | |
20 | g.32436263C>G | CA408563304 | ASXL1 | c.3551C>G (p.Thr1184Arg) c.3368C>G (p.Thr1123Arg) n.5904C>G c.1869+1682C>G (n.1869+1682C>G) c.3536C>G (p.Thr1179Arg) c.3548C>G (p.Thr1183Arg) c.3521C>G (p.Thr1174Arg) c.3467C>G (p.Thr1156Arg) c.2867C>G (p.Thr956Arg) c.3815C>G (p.Thr1272Arg) c.3812C>G (p.Thr1271Arg) c.3731C>G (p.Thr1244Arg) c.3662C>G (p.Thr1221Arg) c.3530C>G (p.Thr1177Arg) c.3398C>G (p.Thr1133Arg) | |
20 | g.32436263C>T | CA408563305 | ASXL1 | c.3551C>T (p.Thr1184Ile) c.3368C>T (p.Thr1123Ile) n.5904C>T c.1869+1682C>T (n.1869+1682C>T) c.3536C>T (p.Thr1179Ile) c.3548C>T (p.Thr1183Ile) c.3521C>T (p.Thr1174Ile) c.3467C>T (p.Thr1156Ile) c.2867C>T (p.Thr956Ile) c.3815C>T (p.Thr1272Ile) c.3812C>T (p.Thr1271Ile) c.3731C>T (p.Thr1244Ile) c.3662C>T (p.Thr1221Ile) c.3530C>T (p.Thr1177Ile) c.3398C>T (p.Thr1133Ile) | gnomAD v4 |
20 | g.32436264A>C | CA510467298 | ASXL1 | c.3552A>C (p.Thr1184=) c.3369A>C (p.Thr1123=) n.5905A>C c.1869+1683A>C (n.1869+1683A>C) c.3537A>C (p.Thr1179=) c.3549A>C (p.Thr1183=) c.3522A>C (p.Thr1174=) c.3468A>C (p.Thr1156=) c.2868A>C (p.Thr956=) c.3816A>C (p.Thr1272=) c.3813A>C (p.Thr1271=) c.3732A>C (p.Thr1244=) c.3663A>C (p.Thr1221=) c.3531A>C (p.Thr1177=) c.3399A>C (p.Thr1133=) | |
20 | g.32436264A>G | CA510467299 | ASXL1 | c.3552A>G (p.Thr1184=) c.3369A>G (p.Thr1123=) n.5905A>G c.1869+1683A>G (n.1869+1683A>G) c.3537A>G (p.Thr1179=) c.3549A>G (p.Thr1183=) c.3522A>G (p.Thr1174=) c.3468A>G (p.Thr1156=) c.2868A>G (p.Thr956=) c.3816A>G (p.Thr1272=) c.3813A>G (p.Thr1271=) c.3732A>G (p.Thr1244=) c.3663A>G (p.Thr1221=) c.3531A>G (p.Thr1177=) c.3399A>G (p.Thr1133=) | |
20 | g.32436264A>T | CA510467300 | ASXL1 | c.3552A>T (p.Thr1184=) c.3369A>T (p.Thr1123=) n.5905A>T c.1869+1683A>T (n.1869+1683A>T) c.3537A>T (p.Thr1179=) c.3549A>T (p.Thr1183=) c.3522A>T (p.Thr1174=) c.3468A>T (p.Thr1156=) c.2868A>T (p.Thr956=) c.3816A>T (p.Thr1272=) c.3813A>T (p.Thr1271=) c.3732A>T (p.Thr1244=) c.3663A>T (p.Thr1221=) c.3531A>T (p.Thr1177=) c.3399A>T (p.Thr1133=) | |
20 | g.32436265G>A | CA408563306 | ASXL1 | c.3553G>A (p.Gly1185Ser) c.3370G>A (p.Gly1124Ser) n.5906G>A c.1869+1684G>A (n.1869+1684G>A) c.3538G>A (p.Gly1180Ser) c.3550G>A (p.Gly1184Ser) c.3523G>A (p.Gly1175Ser) c.3469G>A (p.Gly1157Ser) c.2869G>A (p.Gly957Ser) c.3817G>A (p.Gly1273Ser) c.3814G>A (p.Gly1272Ser) c.3733G>A (p.Gly1245Ser) c.3664G>A (p.Gly1222Ser) c.3532G>A (p.Gly1178Ser) c.3400G>A (p.Gly1134Ser) | |
20 | g.32436265G>C | CA408563307 | ASXL1 | c.3553G>C (p.Gly1185Arg) c.3370G>C (p.Gly1124Arg) n.5906G>C c.1869+1684G>C (n.1869+1684G>C) c.3538G>C (p.Gly1180Arg) c.3550G>C (p.Gly1184Arg) c.3523G>C (p.Gly1175Arg) c.3469G>C (p.Gly1157Arg) c.2869G>C (p.Gly957Arg) c.3817G>C (p.Gly1273Arg) c.3814G>C (p.Gly1272Arg) c.3733G>C (p.Gly1245Arg) c.3664G>C (p.Gly1222Arg) c.3532G>C (p.Gly1178Arg) c.3400G>C (p.Gly1134Arg) | |
20 | g.32436265G>T | CA408563308 | ASXL1 | c.3553G>T (p.Gly1185Cys) c.3370G>T (p.Gly1124Cys) n.5906G>T c.1869+1684G>T (n.1869+1684G>T) c.3538G>T (p.Gly1180Cys) c.3550G>T (p.Gly1184Cys) c.3523G>T (p.Gly1175Cys) c.3469G>T (p.Gly1157Cys) c.2869G>T (p.Gly957Cys) c.3817G>T (p.Gly1273Cys) c.3814G>T (p.Gly1272Cys) c.3733G>T (p.Gly1245Cys) c.3664G>T (p.Gly1222Cys) c.3532G>T (p.Gly1178Cys) c.3400G>T (p.Gly1134Cys) | |
20 | g.32436266G>A | CA408563309 | ASXL1 | c.3554G>A (p.Gly1185Asp) c.3371G>A (p.Gly1124Asp) n.5907G>A c.1869+1685G>A (n.1869+1685G>A) c.3539G>A (p.Gly1180Asp) c.3551G>A (p.Gly1184Asp) c.3524G>A (p.Gly1175Asp) c.3470G>A (p.Gly1157Asp) c.2870G>A (p.Gly957Asp) c.3818G>A (p.Gly1273Asp) c.3815G>A (p.Gly1272Asp) c.3734G>A (p.Gly1245Asp) c.3665G>A (p.Gly1222Asp) c.3533G>A (p.Gly1178Asp) c.3401G>A (p.Gly1134Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436266G>C | CA408563310 | ASXL1 | c.3554G>C (p.Gly1185Ala) c.3371G>C (p.Gly1124Ala) n.5907G>C c.1869+1685G>C (n.1869+1685G>C) c.3539G>C (p.Gly1180Ala) c.3551G>C (p.Gly1184Ala) c.3524G>C (p.Gly1175Ala) c.3470G>C (p.Gly1157Ala) c.2870G>C (p.Gly957Ala) c.3818G>C (p.Gly1273Ala) c.3815G>C (p.Gly1272Ala) c.3734G>C (p.Gly1245Ala) c.3665G>C (p.Gly1222Ala) c.3533G>C (p.Gly1178Ala) c.3401G>C (p.Gly1134Ala) | |
20 | g.32436266G= | CA2360293616 | ASXL1 | c.3554G= (p.Gly1185=) c.3371G= (p.Gly1124=) n.5907G= c.1869+1685G= (n.1869+1685G=) c.3539G= (p.Gly1180=) c.3551G= (p.Gly1184=) c.3524G= (p.Gly1175=) c.3470G= (p.Gly1157=) c.2870G= (p.Gly957=) c.3818G= (p.Gly1273=) c.3815G= (p.Gly1272=) c.3734G= (p.Gly1245=) c.3665G= (p.Gly1222=) c.3533G= (p.Gly1178=) c.3401G= (p.Gly1134=) | |
20 | g.32436266G>T | CA408563311 | ASXL1 | c.3554G>T (p.Gly1185Val) c.3371G>T (p.Gly1124Val) n.5907G>T c.1869+1685G>T (n.1869+1685G>T) c.3539G>T (p.Gly1180Val) c.3551G>T (p.Gly1184Val) c.3524G>T (p.Gly1175Val) c.3470G>T (p.Gly1157Val) c.2870G>T (p.Gly957Val) c.3818G>T (p.Gly1273Val) c.3815G>T (p.Gly1272Val) c.3734G>T (p.Gly1245Val) c.3665G>T (p.Gly1222Val) c.3533G>T (p.Gly1178Val) c.3401G>T (p.Gly1134Val) |