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 |
|---|---|---|---|---|---|
| 7 | g.41965509_41965532del | CA2682510063 | GLI3 | c.3542_3565del (p.Pro1181_Thr1188del) c.3368_3391del (p.Pro1123_Thr1130del) n.3519_3542del c.3365_3388del (p.Pro1122_Thr1129del) c.3539_3562del (p.Pro1180_Thr1187del) | gnomAD v4 |
| 7 | g.41965519_41965533dup | CA1702660798 | GLI3 | c.3545_3559dup (p.Pro1186_Gln1187insArgProAlaValPro) c.3371_3385dup (p.Pro1128_Gln1129insArgProAlaValPro) n.3522_3536dup c.3368_3382dup (p.Pro1127_Gln1128insArgProAlaValPro) c.3542_3556dup (p.Pro1185_Gln1186insArgProAlaValPro) | dbSNP |
| 7 | g.41965517G>A | CA367317788 | GLI3 | c.3556C>T (p.Pro1186Ser) c.3382C>T (p.Pro1128Ser) n.3533C>T c.3379C>T (p.Pro1127Ser) c.3553C>T (p.Pro1185Ser) | gnomAD v4 |
| 7 | g.41965517G>C | CA367317789 | GLI3 | c.3556C>G (p.Pro1186Ala) c.3382C>G (p.Pro1128Ala) n.3533C>G c.3379C>G (p.Pro1127Ala) c.3553C>G (p.Pro1185Ala) | |
| 7 | g.41965517G>T | CA367317790 | GLI3 | c.3556C>A (p.Pro1186Thr) c.3382C>A (p.Pro1128Thr) n.3533C>A c.3379C>A (p.Pro1127Thr) c.3553C>A (p.Pro1185Thr) | |
| 7 | g.41965518C>A | CA454662776 | GLI3 | c.3555G>T (p.Val1185=) c.3381G>T (p.Val1127=) n.3532G>T c.3378G>T (p.Val1126=) c.3552G>T (p.Val1184=) | |
| 7 | g.41965518C>G | CA454662777 | GLI3 | c.3555G>C (p.Val1185=) c.3381G>C (p.Val1127=) n.3532G>C c.3378G>C (p.Val1126=) c.3552G>C (p.Val1184=) | |
| 7 | g.41965518C>T | CA454662778 | GLI3 | c.3555G>A (p.Val1185=) c.3381G>A (p.Val1127=) n.3532G>A c.3378G>A (p.Val1126=) c.3552G>A (p.Val1184=) | |
| 7 | g.41965519A= | CA1702660801 | GLI3 | c.3554T= (p.Val1185=) c.3380T= (p.Val1127=) n.3531T= c.3377T= (p.Val1126=) c.3551T= (p.Val1184=) | |
| 7 | g.41965519A>C | CA4230337 | GLI3 | c.3554T>G (p.Val1185Gly) c.3380T>G (p.Val1127Gly) n.3531T>G c.3377T>G (p.Val1126Gly) c.3551T>G (p.Val1184Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965519A>G | CA367317791 | GLI3 | c.3554T>C (p.Val1185Ala) c.3380T>C (p.Val1127Ala) n.3531T>C c.3377T>C (p.Val1126Ala) c.3551T>C (p.Val1184Ala) | |
| 7 | g.41965519A>T | CA367317792 | GLI3 | c.3554T>A (p.Val1185Glu) c.3380T>A (p.Val1127Glu) n.3531T>A c.3377T>A (p.Val1126Glu) c.3551T>A (p.Val1184Glu) | |
| 7 | g.41965520C>A | CA367317793 | GLI3 | c.3553G>T (p.Val1185Leu) c.3379G>T (p.Val1127Leu) n.3530G>T c.3376G>T (p.Val1126Leu) c.3550G>T (p.Val1184Leu) | |
| 7 | g.41965520C>G | CA367317794 | GLI3 | c.3553G>C (p.Val1185Leu) c.3379G>C (p.Val1127Leu) n.3530G>C c.3376G>C (p.Val1126Leu) c.3550G>C (p.Val1184Leu) | |
| 7 | g.41965520C>T | CA367317795 | GLI3 | c.3553G>A (p.Val1185Met) c.3379G>A (p.Val1127Met) n.3530G>A c.3376G>A (p.Val1126Met) c.3550G>A (p.Val1184Met) | |
| 7 | g.41965521A>C | CA454662782 | GLI3 | c.3552T>G (p.Ala1184=) c.3378T>G (p.Ala1126=) n.3529T>G c.3375T>G (p.Ala1125=) c.3549T>G (p.Ala1183=) | |
| 7 | g.41965521A>G | CA454662779 | GLI3 | c.3552T>C (p.Ala1184=) c.3378T>C (p.Ala1126=) n.3529T>C c.3375T>C (p.Ala1125=) c.3549T>C (p.Ala1183=) | |
| 7 | g.41965521A>T | CA454662781 | GLI3 | c.3552T>A (p.Ala1184=) c.3378T>A (p.Ala1126=) n.3529T>A c.3375T>A (p.Ala1125=) c.3549T>A (p.Ala1183=) | |
| 7 | g.41965522G>A | CA367317797 | GLI3 | c.3551C>T (p.Ala1184Val) c.3377C>T (p.Ala1126Val) n.3528C>T c.3374C>T (p.Ala1125Val) c.3548C>T (p.Ala1183Val) | gnomAD v4 |
| 7 | g.41965522G>C | CA367317798 | GLI3 | c.3551C>G (p.Ala1184Gly) c.3377C>G (p.Ala1126Gly) n.3528C>G c.3374C>G (p.Ala1125Gly) c.3548C>G (p.Ala1183Gly) | |
| 7 | g.41965522G= | CA1702660802 | GLI3 | c.3551C= (p.Ala1184=) c.3377C= (p.Ala1126=) n.3528C= c.3374C= (p.Ala1125=) c.3548C= (p.Ala1183=) | |
| 7 | g.41965522G>T | CA367317796 | GLI3 | c.3551C>A (p.Ala1184Asp) c.3377C>A (p.Ala1126Asp) n.3528C>A c.3374C>A (p.Ala1125Asp) c.3548C>A (p.Ala1183Asp) | dbSNP gnomAD v4 |
| 7 | g.41965523C>A | CA367317800 | GLI3 | c.3550G>T (p.Ala1184Ser) c.3376G>T (p.Ala1126Ser) n.3527G>T c.3373G>T (p.Ala1125Ser) c.3547G>T (p.Ala1183Ser) | gnomAD v4 |
| 7 | g.41965523C= | CA1702660803 | GLI3 | c.3550G= (p.Ala1184=) c.3376G= (p.Ala1126=) n.3527G= c.3373G= (p.Ala1125=) c.3547G= (p.Ala1183=) | |
| 7 | g.41965523C>G | CA367317799 | GLI3 | c.3550G>C (p.Ala1184Pro) c.3376G>C (p.Ala1126Pro) n.3527G>C c.3373G>C (p.Ala1125Pro) c.3547G>C (p.Ala1183Pro) | |
| 7 | g.41965523C>T | CA367317801 | GLI3 | c.3550G>A (p.Ala1184Thr) c.3376G>A (p.Ala1126Thr) n.3527G>A c.3373G>A (p.Ala1125Thr) c.3547G>A (p.Ala1183Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965524_41965534del | CA2580077121 | GLI3 | c.3540_3550del (p.Pro1181CysfsTer?) c.3366_3376del (p.Pro1123CysfsTer?) n.3517_3527del c.3363_3373del (p.Pro1122CysfsTer?) c.3537_3547del (p.Pro1180CysfsTer?) | ClinVar dbSNP |
| 7 | g.41965524G>A | CA4230338 | GLI3 | c.3549C>T (p.Pro1183=) c.3375C>T (p.Pro1125=) n.3526C>T c.3372C>T (p.Pro1124=) c.3546C>T (p.Pro1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965524G>C | CA4230339 | GLI3 | c.3549C>G (p.Pro1183=) c.3375C>G (p.Pro1125=) n.3526C>G c.3372C>G (p.Pro1124=) c.3546C>G (p.Pro1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965524G= | CA1702660804 | GLI3 | c.3549C= (p.Pro1183=) c.3375C= (p.Pro1125=) n.3526C= c.3372C= (p.Pro1124=) c.3546C= (p.Pro1182=) | |
| 7 | g.41965524G>T | CA454662783 | GLI3 | c.3549C>A (p.Pro1183=) c.3375C>A (p.Pro1125=) n.3526C>A c.3372C>A (p.Pro1124=) c.3546C>A (p.Pro1182=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965525G>A | CA367317802 | GLI3 | c.3548C>T (p.Pro1183Leu) c.3374C>T (p.Pro1125Leu) n.3525C>T c.3371C>T (p.Pro1124Leu) c.3545C>T (p.Pro1182Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965525G>C | CA367317803 | GLI3 | c.3548C>G (p.Pro1183Arg) c.3374C>G (p.Pro1125Arg) n.3525C>G c.3371C>G (p.Pro1124Arg) c.3545C>G (p.Pro1182Arg) | |
| 7 | g.41965525G= | CA1702660805 | GLI3 | c.3548C= (p.Pro1183=) c.3374C= (p.Pro1125=) n.3525C= c.3371C= (p.Pro1124=) c.3545C= (p.Pro1182=) | |
| 7 | g.41965525G>T | CA367317804 | GLI3 | c.3548C>A (p.Pro1183His) c.3374C>A (p.Pro1125His) n.3525C>A c.3371C>A (p.Pro1124His) c.3545C>A (p.Pro1182His) | gnomAD v4 |
| 7 | g.41965526G>A | CA367317805 | GLI3 | c.3547C>T (p.Pro1183Ser) c.3373C>T (p.Pro1125Ser) n.3524C>T c.3370C>T (p.Pro1124Ser) c.3544C>T (p.Pro1182Ser) | gnomAD v4 |
| 7 | g.41965526G>C | CA367317806 | GLI3 | c.3547C>G (p.Pro1183Ala) c.3373C>G (p.Pro1125Ala) n.3524C>G c.3370C>G (p.Pro1124Ala) c.3544C>G (p.Pro1182Ala) | |
| 7 | g.41965526G>T | CA367317807 | GLI3 | c.3547C>A (p.Pro1183Thr) c.3373C>A (p.Pro1125Thr) n.3524C>A c.3370C>A (p.Pro1124Thr) c.3544C>A (p.Pro1182Thr) | |
| 7 | g.41965527C>A | CA454662787 | GLI3 | c.3546G>T (p.Arg1182=) c.3372G>T (p.Arg1124=) n.3523G>T c.3369G>T (p.Arg1123=) c.3543G>T (p.Arg1181=) | |
| 7 | g.41965527C>G | CA454662785 | GLI3 | c.3546G>C (p.Arg1182=) c.3372G>C (p.Arg1124=) n.3523G>C c.3369G>C (p.Arg1123=) c.3543G>C (p.Arg1181=) | |
| 7 | g.41965527C>T | CA454662786 | GLI3 | c.3546G>A (p.Arg1182=) c.3372G>A (p.Arg1124=) n.3523G>A c.3369G>A (p.Arg1123=) c.3543G>A (p.Arg1181=) | |
| 7 | g.41965528C>A | CA367317808 | GLI3 | c.3545G>T (p.Arg1182Leu) c.3371G>T (p.Arg1124Leu) n.3522G>T c.3368G>T (p.Arg1123Leu) c.3542G>T (p.Arg1181Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965528C= | CA1702660806 | GLI3 | c.3545G= (p.Arg1182=) c.3371G= (p.Arg1124=) n.3522G= c.3368G= (p.Arg1123=) c.3542G= (p.Arg1181=) | |
| 7 | g.41965528C>G | CA367317809 | GLI3 | c.3545G>C (p.Arg1182Pro) c.3371G>C (p.Arg1124Pro) n.3522G>C c.3368G>C (p.Arg1123Pro) c.3542G>C (p.Arg1181Pro) | |
| 7 | g.41965528C>T | CA367317810 | GLI3 | c.3545G>A (p.Arg1182Gln) c.3371G>A (p.Arg1124Gln) n.3522G>A c.3368G>A (p.Arg1123Gln) c.3542G>A (p.Arg1181Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965529G>A | CA367317811 | GLI3 | c.3544C>T (p.Arg1182Trp) c.3370C>T (p.Arg1124Trp) n.3521C>T c.3367C>T (p.Arg1123Trp) c.3541C>T (p.Arg1181Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965529G>C | CA367317812 | GLI3 | c.3544C>G (p.Arg1182Gly) c.3370C>G (p.Arg1124Gly) n.3521C>G c.3367C>G (p.Arg1123Gly) c.3541C>G (p.Arg1181Gly) | |
| 7 | g.41965529G= | CA1702660807 | GLI3 | c.3544C= (p.Arg1182=) c.3370C= (p.Arg1124=) n.3521C= c.3367C= (p.Arg1123=) c.3541C= (p.Arg1181=) | |
| 7 | g.41965529G>T | CA454662790 | GLI3 | c.3544C>A (p.Arg1182=) c.3370C>A (p.Arg1124=) n.3521C>A c.3367C>A (p.Arg1123=) c.3541C>A (p.Arg1181=) | |
| 7 | g.41965530C>A | CA156903813 | GLI3 | c.3543G>T (p.Pro1181=) c.3369G>T (p.Pro1123=) n.3520G>T c.3366G>T (p.Pro1122=) c.3540G>T (p.Pro1180=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |