UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33740509_33743845delinsAGAAGCCTAGGTGTAC | CA2740091793 | ASXL3 | c.3042+66_4000delinsAGAAGCCTAGGTGTAC c.3039+66_3997delinsAGAAGCCTAGGTGTAC c.2919+66_3877delinsAGAAGCCTAGGTGTAC c.3015+66_3973delinsAGAAGCCTAGGTGTAC c.2961+66_3919delinsAGAAGCCTAGGTGTAC c.2922+66_3880delinsAGAAGCCTAGGTGTAC c.2871+66_3829delinsAGAAGCCTAGGTGTAC | ClinVar |
| 18 | g.33743208_33743220delinsCTTCCAGACCTCT | CA2294857603 | ASXL3 | c.3363_3375delinsCTTCCAGACCTCT (p.Leu1121=) c.3360_3372delinsCTTCCAGACCTCT (p.Leu1120=) c.*2484_*2496delinsCTTCCAGACCTCT (n.*2484_*2496delinsCTTCCAGACCTCT) c.*3019_*3031delinsCTTCCAGACCTCT (n.*3019_*3031delinsCTTCCAGACCTCT) c.3572_3584delinsCTTCCAGACCTCT (n.3572_3584delinsCTTCCAGACCTCT) c.3192_3204delinsCTTCCAGACCTCT (p.Leu1064=) c.3240_3252delinsCTTCCAGACCTCT (p.Leu1080=) c.3336_3348delinsCTTCCAGACCTCT (p.Leu1112=) c.3282_3294delinsCTTCCAGACCTCT (p.Leu1094=) c.3243_3255delinsCTTCCAGACCTCT (p.Leu1081=) c.324_336delinsCTTCCAGACCTCT (p.Leu108=) | |
| 18 | g.33743209_33743220del | CA778608324 | ASXL3 | c.3364_3375del (p.Phe1122_Ser1125del) c.3361_3372del (p.Phe1121_Ser1124del) c.*2485_*2496del (n.*2485_*2496del) c.*3020_*3031del (n.*3020_*3031del) c.3573_3584del (n.3573_3584del) c.3193_3204del (p.Phe1065_Ser1068del) c.3241_3252del (p.Phe1081_Ser1084del) c.3337_3348del (p.Phe1113_Ser1116del) c.3283_3294del (p.Phe1095_Ser1098del) c.3244_3255del (p.Phe1082_Ser1085del) c.325_336del (p.Phe109_Ser112del) | dbSNP |
| 18 | g.33743214G>A | CA503769624 | ASXL3 | c.3369G>A (p.Gln1123=) c.3366G>A (p.Gln1122=) c.*2490G>A (n.*2490G>A) c.*3025G>A (n.*3025G>A) c.3578G>A (n.3578G>A) c.3198G>A (p.Gln1066=) c.3246G>A (p.Gln1082=) c.3342G>A (p.Gln1114=) c.3288G>A (p.Gln1096=) c.3249G>A (p.Gln1083=) c.330G>A (p.Gln110=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743214G>C | CA402185188 | ASXL3 | c.3369G>C (p.Gln1123His) c.3366G>C (p.Gln1122His) c.*2490G>C (n.*2490G>C) c.*3025G>C (n.*3025G>C) c.3578G>C (n.3578G>C) c.3198G>C (p.Gln1066His) c.3246G>C (p.Gln1082His) c.3342G>C (p.Gln1114His) c.3288G>C (p.Gln1096His) c.3249G>C (p.Gln1083His) c.330G>C (p.Gln110His) | |
| 18 | g.33743214G= | CA2294857606 | ASXL3 | c.3369G= (p.Gln1123=) c.3366G= (p.Gln1122=) c.*2490G= (n.*2490G=) c.*3025G= (n.*3025G=) c.3578G= (n.3578G=) c.3198G= (p.Gln1066=) c.3246G= (p.Gln1082=) c.3342G= (p.Gln1114=) c.3288G= (p.Gln1096=) c.3249G= (p.Gln1083=) c.330G= (p.Gln110=) | |
| 18 | g.33743214G>T | CA402185189 | ASXL3 | c.3369G>T (p.Gln1123His) c.3366G>T (p.Gln1122His) c.*2490G>T (n.*2490G>T) c.*3025G>T (n.*3025G>T) c.3578G>T (n.3578G>T) c.3198G>T (p.Gln1066His) c.3246G>T (p.Gln1082His) c.3342G>T (p.Gln1114His) c.3288G>T (p.Gln1096His) c.3249G>T (p.Gln1083His) c.330G>T (p.Gln110His) | dbSNP |
| 18 | g.33743214_33743221delinsGACCTCTA | CA2294857607 | ASXL3 | c.3369_3376delinsGACCTCTA (p.Gln1123=) c.3366_3373delinsGACCTCTA (p.Gln1122=) c.*2490_*2497delinsGACCTCTA (n.*2490_*2497delinsGACCTCTA) c.*3025_*3032delinsGACCTCTA (n.*3025_*3032delinsGACCTCTA) c.3578_3585delinsGACCTCTA (n.3578_3585delinsGACCTCTA) c.3198_3205delinsGACCTCTA (p.Gln1066=) c.3246_3253delinsGACCTCTA (p.Gln1082=) c.3342_3349delinsGACCTCTA (p.Gln1114=) c.3288_3295delinsGACCTCTA (p.Gln1096=) c.3249_3256delinsGACCTCTA (p.Gln1083=) c.330_337delinsGACCTCTA (p.Gln110=) | |
| 18 | g.33743215A>C | CA402185190 | ASXL3 | c.3370A>C (p.Thr1124Pro) c.3367A>C (p.Thr1123Pro) c.*2491A>C (n.*2491A>C) c.*3026A>C (n.*3026A>C) c.3579A>C (n.3579A>C) c.3199A>C (p.Thr1067Pro) c.3247A>C (p.Thr1083Pro) c.3343A>C (p.Thr1115Pro) c.3289A>C (p.Thr1097Pro) c.3250A>C (p.Thr1084Pro) c.331A>C (p.Thr111Pro) | |
| 18 | g.33743215A>G | CA402185191 | ASXL3 | c.3370A>G (p.Thr1124Ala) c.3367A>G (p.Thr1123Ala) c.*2491A>G (n.*2491A>G) c.*3026A>G (n.*3026A>G) c.3579A>G (n.3579A>G) c.3199A>G (p.Thr1067Ala) c.3247A>G (p.Thr1083Ala) c.3343A>G (p.Thr1115Ala) c.3289A>G (p.Thr1097Ala) c.3250A>G (p.Thr1084Ala) c.331A>G (p.Thr111Ala) | |
| 18 | g.33743215A>T | CA402185192 | ASXL3 | c.3370A>T (p.Thr1124Ser) c.3367A>T (p.Thr1123Ser) c.*2491A>T (n.*2491A>T) c.*3026A>T (n.*3026A>T) c.3579A>T (n.3579A>T) c.3199A>T (p.Thr1067Ser) c.3247A>T (p.Thr1083Ser) c.3343A>T (p.Thr1115Ser) c.3289A>T (p.Thr1097Ser) c.3250A>T (p.Thr1084Ser) c.331A>T (p.Thr111Ser) | |
| 18 | g.33743216_33743222del | CA989072021 | ASXL3 | c.3371_3377del (p.Thr1124LysfsTer18) c.3368_3374del (p.Thr1123LysfsTer18) c.*2492_*2498del (n.*2492_*2498del) c.*3027_*3033del (n.*3027_*3033del) c.3580_3586del (n.3580_3586del) c.3200_3206del (p.Thr1067LysfsTer18) c.3248_3254del (p.Thr1083LysfsTer18) c.3344_3350del (p.Thr1115LysfsTer18) c.3290_3296del (p.Thr1097LysfsTer18) c.3251_3257del (p.Thr1084LysfsTer18) c.332_338del (p.Thr111LysfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743216C>A | CA402185195 | ASXL3 | c.3371C>A (p.Thr1124Asn) c.3368C>A (p.Thr1123Asn) c.*2492C>A (n.*2492C>A) c.*3027C>A (n.*3027C>A) c.3580C>A (n.3580C>A) c.3200C>A (p.Thr1067Asn) c.3248C>A (p.Thr1083Asn) c.3344C>A (p.Thr1115Asn) c.3290C>A (p.Thr1097Asn) c.3251C>A (p.Thr1084Asn) c.332C>A (p.Thr111Asn) | |
| 18 | g.33743216C>G | CA402185194 | ASXL3 | c.3371C>G (p.Thr1124Ser) c.3368C>G (p.Thr1123Ser) c.*2492C>G (n.*2492C>G) c.*3027C>G (n.*3027C>G) c.3580C>G (n.3580C>G) c.3200C>G (p.Thr1067Ser) c.3248C>G (p.Thr1083Ser) c.3344C>G (p.Thr1115Ser) c.3290C>G (p.Thr1097Ser) c.3251C>G (p.Thr1084Ser) c.332C>G (p.Thr111Ser) | |
| 18 | g.33743216C>T | CA402185193 | ASXL3 | c.3371C>T (p.Thr1124Ile) c.3368C>T (p.Thr1123Ile) c.*2492C>T (n.*2492C>T) c.*3027C>T (n.*3027C>T) c.3580C>T (n.3580C>T) c.3200C>T (p.Thr1067Ile) c.3248C>T (p.Thr1083Ile) c.3344C>T (p.Thr1115Ile) c.3290C>T (p.Thr1097Ile) c.3251C>T (p.Thr1084Ile) c.332C>T (p.Thr111Ile) | gnomAD v4 |
| 18 | g.33743217C>A | CA503769625 | ASXL3 | c.3372C>A (p.Thr1124=) c.3369C>A (p.Thr1123=) c.*2493C>A (n.*2493C>A) c.*3028C>A (n.*3028C>A) c.3581C>A (n.3581C>A) c.3201C>A (p.Thr1067=) c.3249C>A (p.Thr1083=) c.3345C>A (p.Thr1115=) c.3291C>A (p.Thr1097=) c.3252C>A (p.Thr1084=) c.333C>A (p.Thr111=) | |
| 18 | g.33743217C= | CA2294857608 | ASXL3 | c.3372C= (p.Thr1124=) c.3369C= (p.Thr1123=) c.*2493C= (n.*2493C=) c.*3028C= (n.*3028C=) c.3581C= (n.3581C=) c.3201C= (p.Thr1067=) c.3249C= (p.Thr1083=) c.3345C= (p.Thr1115=) c.3291C= (p.Thr1097=) c.3252C= (p.Thr1084=) c.333C= (p.Thr111=) | |
| 18 | g.33743217C>G | CA503769626 | ASXL3 | c.3372C>G (p.Thr1124=) c.3369C>G (p.Thr1123=) c.*2493C>G (n.*2493C>G) c.*3028C>G (n.*3028C>G) c.3581C>G (n.3581C>G) c.3201C>G (p.Thr1067=) c.3249C>G (p.Thr1083=) c.3345C>G (p.Thr1115=) c.3291C>G (p.Thr1097=) c.3252C>G (p.Thr1084=) c.333C>G (p.Thr111=) | |
| 18 | g.33743217C>T | CA8934070 | ASXL3 | c.3372C>T (p.Thr1124=) c.3369C>T (p.Thr1123=) c.*2493C>T (n.*2493C>T) c.*3028C>T (n.*3028C>T) c.3581C>T (n.3581C>T) c.3201C>T (p.Thr1067=) c.3249C>T (p.Thr1083=) c.3345C>T (p.Thr1115=) c.3291C>T (p.Thr1097=) c.3252C>T (p.Thr1084=) c.333C>T (p.Thr111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743218T>A | CA402185196 | ASXL3 | c.3373T>A (p.Ser1125Thr) c.3370T>A (p.Ser1124Thr) c.*2494T>A (n.*2494T>A) c.*3029T>A (n.*3029T>A) c.3582T>A (n.3582T>A) c.3202T>A (p.Ser1068Thr) c.3250T>A (p.Ser1084Thr) c.3346T>A (p.Ser1116Thr) c.3292T>A (p.Ser1098Thr) c.3253T>A (p.Ser1085Thr) c.334T>A (p.Ser112Thr) | |
| 18 | g.33743218T>C | CA402185197 | ASXL3 | c.3373T>C (p.Ser1125Pro) c.3370T>C (p.Ser1124Pro) c.*2494T>C (n.*2494T>C) c.*3029T>C (n.*3029T>C) c.3582T>C (n.3582T>C) c.3202T>C (p.Ser1068Pro) c.3250T>C (p.Ser1084Pro) c.3346T>C (p.Ser1116Pro) c.3292T>C (p.Ser1098Pro) c.3253T>C (p.Ser1085Pro) c.334T>C (p.Ser112Pro) | |
| 18 | g.33743218T>G | CA402185198 | ASXL3 | c.3373T>G (p.Ser1125Ala) c.3370T>G (p.Ser1124Ala) c.*2494T>G (n.*2494T>G) c.*3029T>G (n.*3029T>G) c.3582T>G (n.3582T>G) c.3202T>G (p.Ser1068Ala) c.3250T>G (p.Ser1084Ala) c.3346T>G (p.Ser1116Ala) c.3292T>G (p.Ser1098Ala) c.3253T>G (p.Ser1085Ala) c.334T>G (p.Ser112Ala) | |
| 18 | g.33743219C>A | CA297792946 | ASXL3 | c.3374C>A (p.Ser1125Tyr) c.3371C>A (p.Ser1124Tyr) c.*2495C>A (n.*2495C>A) c.*3030C>A (n.*3030C>A) c.3583C>A (n.3583C>A) c.3203C>A (p.Ser1068Tyr) c.3251C>A (p.Ser1084Tyr) c.3347C>A (p.Ser1116Tyr) c.3293C>A (p.Ser1098Tyr) c.3254C>A (p.Ser1085Tyr) c.335C>A (p.Ser112Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743219C= | CA2294857609 | ASXL3 | c.3374C= (p.Ser1125=) c.3371C= (p.Ser1124=) c.*2495C= (n.*2495C=) c.*3030C= (n.*3030C=) c.3583C= (n.3583C=) c.3203C= (p.Ser1068=) c.3251C= (p.Ser1084=) c.3347C= (p.Ser1116=) c.3293C= (p.Ser1098=) c.3254C= (p.Ser1085=) c.335C= (p.Ser112=) | |
| 18 | g.33743219C>G | CA402185199 | ASXL3 | c.3374C>G (p.Ser1125Cys) c.3371C>G (p.Ser1124Cys) c.*2495C>G (n.*2495C>G) c.*3030C>G (n.*3030C>G) c.3583C>G (n.3583C>G) c.3203C>G (p.Ser1068Cys) c.3251C>G (p.Ser1084Cys) c.3347C>G (p.Ser1116Cys) c.3293C>G (p.Ser1098Cys) c.3254C>G (p.Ser1085Cys) c.335C>G (p.Ser112Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.33743219C>T | CA402185200 | ASXL3 | c.3374C>T (p.Ser1125Phe) c.3371C>T (p.Ser1124Phe) c.*2495C>T (n.*2495C>T) c.*3030C>T (n.*3030C>T) c.3583C>T (n.3583C>T) c.3203C>T (p.Ser1068Phe) c.3251C>T (p.Ser1084Phe) c.3347C>T (p.Ser1116Phe) c.3293C>T (p.Ser1098Phe) c.3254C>T (p.Ser1085Phe) c.335C>T (p.Ser112Phe) | gnomAD v4 |
| 18 | g.33743220T>A | CA503769627 | ASXL3 | c.3375T>A (p.Ser1125=) c.3372T>A (p.Ser1124=) c.*2496T>A (n.*2496T>A) c.*3031T>A (n.*3031T>A) c.3584T>A (n.3584T>A) c.3204T>A (p.Ser1068=) c.3252T>A (p.Ser1084=) c.3348T>A (p.Ser1116=) c.3294T>A (p.Ser1098=) c.3255T>A (p.Ser1085=) c.336T>A (p.Ser112=) | |
| 18 | g.33743220T>C | CA503769628 | ASXL3 | c.3375T>C (p.Ser1125=) c.3372T>C (p.Ser1124=) c.*2496T>C (n.*2496T>C) c.*3031T>C (n.*3031T>C) c.3584T>C (n.3584T>C) c.3204T>C (p.Ser1068=) c.3252T>C (p.Ser1084=) c.3348T>C (p.Ser1116=) c.3294T>C (p.Ser1098=) c.3255T>C (p.Ser1085=) c.336T>C (p.Ser112=) | |
| 18 | g.33743220T>G | CA503769629 | ASXL3 | c.3375T>G (p.Ser1125=) c.3372T>G (p.Ser1124=) c.*2496T>G (n.*2496T>G) c.*3031T>G (n.*3031T>G) c.3584T>G (n.3584T>G) c.3204T>G (p.Ser1068=) c.3252T>G (p.Ser1084=) c.3348T>G (p.Ser1116=) c.3294T>G (p.Ser1098=) c.3255T>G (p.Ser1085=) c.336T>G (p.Ser112=) | |
| 18 | g.33743220T= | CA2294857610 | ASXL3 | c.3375T= (p.Ser1125=) c.3372T= (p.Ser1124=) c.*2496T= (n.*2496T=) c.*3031T= (n.*3031T=) c.3584T= (n.3584T=) c.3204T= (p.Ser1068=) c.3252T= (p.Ser1084=) c.3348T= (p.Ser1116=) c.3294T= (p.Ser1098=) c.3255T= (p.Ser1085=) c.336T= (p.Ser112=) | |
| 18 | g.33743221A= | CA2294857611 | ASXL3 | c.3376A= (p.Lys1126=) c.3373A= (p.Lys1125=) c.*2497A= (n.*2497A=) c.*3032A= (n.*3032A=) c.3585A= (n.3585A=) c.3205A= (p.Lys1069=) c.3253A= (p.Lys1085=) c.3349A= (p.Lys1117=) c.3295A= (p.Lys1099=) c.3256A= (p.Lys1086=) c.337A= (p.Lys113=) | |
| 18 | g.33743221A>C | CA402185201 | ASXL3 | c.3376A>C (p.Lys1126Gln) c.3373A>C (p.Lys1125Gln) c.*2497A>C (n.*2497A>C) c.*3032A>C (n.*3032A>C) c.3585A>C (n.3585A>C) c.3205A>C (p.Lys1069Gln) c.3253A>C (p.Lys1085Gln) c.3349A>C (p.Lys1117Gln) c.3295A>C (p.Lys1099Gln) c.3256A>C (p.Lys1086Gln) c.337A>C (p.Lys113Gln) | |
| 18 | g.33743221A>G | CA402185202 | ASXL3 | c.3376A>G (p.Lys1126Glu) c.3373A>G (p.Lys1125Glu) c.*2497A>G (n.*2497A>G) c.*3032A>G (n.*3032A>G) c.3585A>G (n.3585A>G) c.3205A>G (p.Lys1069Glu) c.3253A>G (p.Lys1085Glu) c.3349A>G (p.Lys1117Glu) c.3295A>G (p.Lys1099Glu) c.3256A>G (p.Lys1086Glu) c.337A>G (p.Lys113Glu) | dbSNP gnomAD v4 |
| 18 | g.33743221A>T | CA402185203 | ASXL3 | c.3376A>T (p.Lys1126Ter) c.3373A>T (p.Lys1125Ter) c.*2497A>T (n.*2497A>T) c.*3032A>T (n.*3032A>T) c.3585A>T (n.3585A>T) c.3205A>T (p.Lys1069Ter) c.3253A>T (p.Lys1085Ter) c.3349A>T (p.Lys1117Ter) c.3295A>T (p.Lys1099Ter) c.3256A>T (p.Lys1086Ter) c.337A>T (p.Lys113Ter) | |
| 18 | g.33743222_33743225dup | CA1139666030 | ASXL3 | c.3377_3380dup (p.Thr1128ArgfsTer24) c.3374_3377dup (p.Thr1127ArgfsTer24) c.*2498_*2501dup (n.*2498_*2501dup) c.*3033_*3036dup (n.*3033_*3036dup) c.3586_3589dup (n.3586_3589dup) c.3206_3209dup (p.Thr1071ArgfsTer24) c.3254_3257dup (p.Thr1087ArgfsTer24) c.3350_3353dup (p.Thr1119ArgfsTer24) c.3296_3299dup (p.Thr1101ArgfsTer24) c.3257_3260dup (p.Thr1088ArgfsTer24) c.338_341dup (p.Thr115ArgfsTer24) | ClinVar dbSNP |
| 18 | g.33743222A>C | CA402185204 | ASXL3 | c.3377A>C (p.Lys1126Thr) c.3374A>C (p.Lys1125Thr) c.*2498A>C (n.*2498A>C) c.*3033A>C (n.*3033A>C) c.3586A>C (n.3586A>C) c.3206A>C (p.Lys1069Thr) c.3254A>C (p.Lys1085Thr) c.3350A>C (p.Lys1117Thr) c.3296A>C (p.Lys1099Thr) c.3257A>C (p.Lys1086Thr) c.338A>C (p.Lys113Thr) | gnomAD v4 |
| 18 | g.33743222A>G | CA402185205 | ASXL3 | c.3377A>G (p.Lys1126Arg) c.3374A>G (p.Lys1125Arg) c.*2498A>G (n.*2498A>G) c.*3033A>G (n.*3033A>G) c.3586A>G (n.3586A>G) c.3206A>G (p.Lys1069Arg) c.3254A>G (p.Lys1085Arg) c.3350A>G (p.Lys1117Arg) c.3296A>G (p.Lys1099Arg) c.3257A>G (p.Lys1086Arg) c.338A>G (p.Lys113Arg) | |
| 18 | g.33743222A>T | CA402185206 | ASXL3 | c.3377A>T (p.Lys1126Ile) c.3374A>T (p.Lys1125Ile) c.*2498A>T (n.*2498A>T) c.*3033A>T (n.*3033A>T) c.3586A>T (n.3586A>T) c.3206A>T (p.Lys1069Ile) c.3254A>T (p.Lys1085Ile) c.3350A>T (p.Lys1117Ile) c.3296A>T (p.Lys1099Ile) c.3257A>T (p.Lys1086Ile) c.338A>T (p.Lys113Ile) | |
| 18 | g.33743223A= | CA2294857612 | ASXL3 | c.3378A= (p.Lys1126=) c.3375A= (p.Lys1125=) c.*2499A= (n.*2499A=) c.*3034A= (n.*3034A=) c.3587A= (n.3587A=) c.3207A= (p.Lys1069=) c.3255A= (p.Lys1085=) c.3351A= (p.Lys1117=) c.3297A= (p.Lys1099=) c.3258A= (p.Lys1086=) c.339A= (p.Lys113=) | |
| 18 | g.33743223A>C | CA402185208 | ASXL3 | c.3378A>C (p.Lys1126Asn) c.3375A>C (p.Lys1125Asn) c.*2499A>C (n.*2499A>C) c.*3034A>C (n.*3034A>C) c.3587A>C (n.3587A>C) c.3207A>C (p.Lys1069Asn) c.3255A>C (p.Lys1085Asn) c.3351A>C (p.Lys1117Asn) c.3297A>C (p.Lys1099Asn) c.3258A>C (p.Lys1086Asn) c.339A>C (p.Lys113Asn) | |
| 18 | g.33743223A>G | CA503769633 | ASXL3 | c.3378A>G (p.Lys1126=) c.3375A>G (p.Lys1125=) c.*2499A>G (n.*2499A>G) c.*3034A>G (n.*3034A>G) c.3587A>G (n.3587A>G) c.3207A>G (p.Lys1069=) c.3255A>G (p.Lys1085=) c.3351A>G (p.Lys1117=) c.3297A>G (p.Lys1099=) c.3258A>G (p.Lys1086=) c.339A>G (p.Lys113=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743223A>T | CA402185207 | ASXL3 | c.3378A>T (p.Lys1126Asn) c.3375A>T (p.Lys1125Asn) c.*2499A>T (n.*2499A>T) c.*3034A>T (n.*3034A>T) c.3587A>T (n.3587A>T) c.3207A>T (p.Lys1069Asn) c.3255A>T (p.Lys1085Asn) c.3351A>T (p.Lys1117Asn) c.3297A>T (p.Lys1099Asn) c.3258A>T (p.Lys1086Asn) c.339A>T (p.Lys113Asn) | gnomAD v4 |
| 18 | g.33743224G>A | CA402185209 | ASXL3 | c.3379G>A (p.Glu1127Lys) c.3376G>A (p.Glu1126Lys) c.*2500G>A (n.*2500G>A) c.*3035G>A (n.*3035G>A) c.3588G>A (n.3588G>A) c.3208G>A (p.Glu1070Lys) c.3256G>A (p.Glu1086Lys) c.3352G>A (p.Glu1118Lys) c.3298G>A (p.Glu1100Lys) c.3259G>A (p.Glu1087Lys) c.340G>A (p.Glu114Lys) | |
| 18 | g.33743224G>C | CA402185210 | ASXL3 | c.3379G>C (p.Glu1127Gln) c.3376G>C (p.Glu1126Gln) c.*2500G>C (n.*2500G>C) c.*3035G>C (n.*3035G>C) c.3588G>C (n.3588G>C) c.3208G>C (p.Glu1070Gln) c.3256G>C (p.Glu1086Gln) c.3352G>C (p.Glu1118Gln) c.3298G>C (p.Glu1100Gln) c.3259G>C (p.Glu1087Gln) c.340G>C (p.Glu114Gln) | |
| 18 | g.33743224G>T | CA402185211 | ASXL3 | c.3379G>T (p.Glu1127Ter) c.3376G>T (p.Glu1126Ter) c.*2500G>T (n.*2500G>T) c.*3035G>T (n.*3035G>T) c.3588G>T (n.3588G>T) c.3208G>T (p.Glu1070Ter) c.3256G>T (p.Glu1086Ter) c.3352G>T (p.Glu1118Ter) c.3298G>T (p.Glu1100Ter) c.3259G>T (p.Glu1087Ter) c.340G>T (p.Glu114Ter) | |
| 18 | g.33743225A>C | CA402185212 | ASXL3 | c.3380A>C (p.Glu1127Ala) c.3377A>C (p.Glu1126Ala) c.*2501A>C (n.*2501A>C) c.*3036A>C (n.*3036A>C) c.3589A>C (n.3589A>C) c.3209A>C (p.Glu1070Ala) c.3257A>C (p.Glu1086Ala) c.3353A>C (p.Glu1118Ala) c.3299A>C (p.Glu1100Ala) c.3260A>C (p.Glu1087Ala) c.341A>C (p.Glu114Ala) | |
| 18 | g.33743225A>G | CA402185213 | ASXL3 | c.3380A>G (p.Glu1127Gly) c.3377A>G (p.Glu1126Gly) c.*2501A>G (n.*2501A>G) c.*3036A>G (n.*3036A>G) c.3589A>G (n.3589A>G) c.3209A>G (p.Glu1070Gly) c.3257A>G (p.Glu1086Gly) c.3353A>G (p.Glu1118Gly) c.3299A>G (p.Glu1100Gly) c.3260A>G (p.Glu1087Gly) c.341A>G (p.Glu114Gly) | |
| 18 | g.33743225A>T | CA402185214 | ASXL3 | c.3380A>T (p.Glu1127Val) c.3377A>T (p.Glu1126Val) c.*2501A>T (n.*2501A>T) c.*3036A>T (n.*3036A>T) c.3589A>T (n.3589A>T) c.3209A>T (p.Glu1070Val) c.3257A>T (p.Glu1086Val) c.3353A>T (p.Glu1118Val) c.3299A>T (p.Glu1100Val) c.3260A>T (p.Glu1087Val) c.341A>T (p.Glu114Val) | |
| 18 | g.33743226G>A | CA503769636 | ASXL3 | c.3381G>A (p.Glu1127=) c.3378G>A (p.Glu1126=) c.*2502G>A (n.*2502G>A) c.*3037G>A (n.*3037G>A) c.3590G>A (n.3590G>A) c.3210G>A (p.Glu1070=) c.3258G>A (p.Glu1086=) c.3354G>A (p.Glu1118=) c.3300G>A (p.Glu1100=) c.3261G>A (p.Glu1087=) c.342G>A (p.Glu114=) | |
| 18 | g.33743226G>C | CA402185215 | ASXL3 | c.3381G>C (p.Glu1127Asp) c.3378G>C (p.Glu1126Asp) c.*2502G>C (n.*2502G>C) c.*3037G>C (n.*3037G>C) c.3590G>C (n.3590G>C) c.3210G>C (p.Glu1070Asp) c.3258G>C (p.Glu1086Asp) c.3354G>C (p.Glu1118Asp) c.3300G>C (p.Glu1100Asp) c.3261G>C (p.Glu1087Asp) c.342G>C (p.Glu114Asp) |