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 |
|---|---|---|---|---|---|
| X | g.32464589G>A | CA10379321 | DMD | n.3480C>T c.3273C>T (p.Cys1091=) c.3261C>T (p.Cys1087=) c.94-99390C>T (n.94-99390C>T) c.94-99879C>T (n.94-99879C>T) n.336-247526C>T c.3249C>T (p.Cys1083=) c.2904C>T (p.Cys968=) c.3144C>T (p.Cys1048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32464589G>C | CA412664686 | DMD | n.3480C>G c.3273C>G (p.Cys1091Trp) c.3261C>G (p.Cys1087Trp) c.94-99390C>G (n.94-99390C>G) c.94-99879C>G (n.94-99879C>G) n.336-247526C>G c.3249C>G (p.Cys1083Trp) c.2904C>G (p.Cys968Trp) c.3144C>G (p.Cys1048Trp) | |
| X | g.32464589G= | CA2422815792 | DMD | n.3480C= c.3273C= (p.Cys1091=) c.3261C= (p.Cys1087=) c.94-99390C= (n.94-99390C=) c.94-99879C= (n.94-99879C=) n.336-247526C= c.3249C= (p.Cys1083=) c.2904C= (p.Cys968=) c.3144C= (p.Cys1048=) | |
| X | g.32464589G>T | CA412664683 | DMD | n.3480C>A c.3273C>A (p.Cys1091Ter) c.3261C>A (p.Cys1087Ter) c.94-99390C>A (n.94-99390C>A) c.94-99879C>A (n.94-99879C>A) n.336-247526C>A c.3249C>A (p.Cys1083Ter) c.2904C>A (p.Cys968Ter) c.3144C>A (p.Cys1048Ter) | |
| X | g.32464590C>A | CA412664688 | DMD | n.3479G>T c.3272G>T (p.Cys1091Phe) c.3260G>T (p.Cys1087Phe) c.94-99391G>T (n.94-99391G>T) c.94-99880G>T (n.94-99880G>T) n.336-247527G>T c.3248G>T (p.Cys1083Phe) c.2903G>T (p.Cys968Phe) c.3143G>T (p.Cys1048Phe) | dbSNP gnomAD v4 |
| X | g.32464590C= | CA2422815793 | DMD | n.3479G= c.3272G= (p.Cys1091=) c.3260G= (p.Cys1087=) c.94-99391G= (n.94-99391G=) c.94-99880G= (n.94-99880G=) n.336-247527G= c.3248G= (p.Cys1083=) c.2903G= (p.Cys968=) c.3143G= (p.Cys1048=) | |
| X | g.32464590C>G | CA412664690 | DMD | n.3479G>C c.3272G>C (p.Cys1091Ser) c.3260G>C (p.Cys1087Ser) c.94-99391G>C (n.94-99391G>C) c.94-99880G>C (n.94-99880G>C) n.336-247527G>C c.3248G>C (p.Cys1083Ser) c.2903G>C (p.Cys968Ser) c.3143G>C (p.Cys1048Ser) | |
| X | g.32464590C>T | CA412664692 | DMD | n.3479G>A c.3272G>A (p.Cys1091Tyr) c.3260G>A (p.Cys1087Tyr) c.94-99391G>A (n.94-99391G>A) c.94-99880G>A (n.94-99880G>A) n.336-247527G>A c.3248G>A (p.Cys1083Tyr) c.2903G>A (p.Cys968Tyr) c.3143G>A (p.Cys1048Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32464591A= | CA2422815794 | DMD | n.3478T= c.3271T= (p.Cys1091=) c.3259T= (p.Cys1087=) c.94-99392T= (n.94-99392T=) c.94-99881T= (n.94-99881T=) n.336-247528T= c.3247T= (p.Cys1083=) c.2902T= (p.Cys968=) c.3142T= (p.Cys1048=) | |
| X | g.32464591A>C | CA412664694 | DMD | n.3478T>G c.3271T>G (p.Cys1091Gly) c.3259T>G (p.Cys1087Gly) c.94-99392T>G (n.94-99392T>G) c.94-99881T>G (n.94-99881T>G) n.336-247528T>G c.3247T>G (p.Cys1083Gly) c.2902T>G (p.Cys968Gly) c.3142T>G (p.Cys1048Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32464591A>G | CA412664695 | DMD | n.3478T>C c.3271T>C (p.Cys1091Arg) c.3259T>C (p.Cys1087Arg) c.94-99392T>C (n.94-99392T>C) c.94-99881T>C (n.94-99881T>C) n.336-247528T>C c.3247T>C (p.Cys1083Arg) c.2902T>C (p.Cys968Arg) c.3142T>C (p.Cys1048Arg) | gnomAD v4 |
| X | g.32464591A>T | CA412664697 | DMD | n.3478T>A c.3271T>A (p.Cys1091Ser) c.3259T>A (p.Cys1087Ser) c.94-99392T>A (n.94-99392T>A) c.94-99881T>A (n.94-99881T>A) n.336-247528T>A c.3247T>A (p.Cys1083Ser) c.2902T>A (p.Cys968Ser) c.3142T>A (p.Cys1048Ser) | gnomAD v4 |
| X | g.32464592C>A | CA412664699 | DMD | n.3477G>T c.3270G>T (p.Gln1090His) c.3258G>T (p.Gln1086His) c.94-99393G>T (n.94-99393G>T) c.94-99882G>T (n.94-99882G>T) n.336-247529G>T c.3246G>T (p.Gln1082His) c.2901G>T (p.Gln967His) c.3141G>T (p.Gln1047His) | ClinVar dbSNP gnomAD v4 |
| X | g.32464592C= | CA2422815795 | DMD | n.3477G= c.3270G= (p.Gln1090=) c.3258G= (p.Gln1086=) c.94-99393G= (n.94-99393G=) c.94-99882G= (n.94-99882G=) n.336-247529G= c.3246G= (p.Gln1082=) c.2901G= (p.Gln967=) c.3141G= (p.Gln1047=) | |
| X | g.32464592C>G | CA412664701 | DMD | n.3477G>C c.3270G>C (p.Gln1090His) c.3258G>C (p.Gln1086His) c.94-99393G>C (n.94-99393G>C) c.94-99882G>C (n.94-99882G>C) n.336-247529G>C c.3246G>C (p.Gln1082His) c.2901G>C (p.Gln967His) c.3141G>C (p.Gln1047His) | dbSNP |
| X | g.32464592C>T | CA10379322 | DMD | n.3477G>A c.3270G>A (p.Gln1090=) c.3258G>A (p.Gln1086=) c.94-99393G>A (n.94-99393G>A) c.94-99882G>A (n.94-99882G>A) n.336-247529G>A c.3246G>A (p.Gln1082=) c.2901G>A (p.Gln967=) c.3141G>A (p.Gln1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32464593T>A | CA242443 | DMD | n.3476A>T c.3269A>T (p.Gln1090Leu) c.3257A>T (p.Gln1086Leu) c.94-99394A>T (n.94-99394A>T) c.94-99883A>T (n.94-99883A>T) n.336-247530A>T c.3245A>T (p.Gln1082Leu) c.2900A>T (p.Gln967Leu) c.3140A>T (p.Gln1047Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32464593T>C | CA412664704 | DMD | n.3476A>G c.3269A>G (p.Gln1090Arg) c.3257A>G (p.Gln1086Arg) c.94-99394A>G (n.94-99394A>G) c.94-99883A>G (n.94-99883A>G) n.336-247530A>G c.3245A>G (p.Gln1082Arg) c.2900A>G (p.Gln967Arg) c.3140A>G (p.Gln1047Arg) | |
| X | g.32464593T>G | CA412664706 | DMD | n.3476A>C c.3269A>C (p.Gln1090Pro) c.3257A>C (p.Gln1086Pro) c.94-99394A>C (n.94-99394A>C) c.94-99883A>C (n.94-99883A>C) n.336-247530A>C c.3245A>C (p.Gln1082Pro) c.2900A>C (p.Gln967Pro) c.3140A>C (p.Gln1047Pro) | |
| X | g.32464593T= | CA2422815796 | DMD | n.3476A= c.3269A= (p.Gln1090=) c.3257A= (p.Gln1086=) c.94-99394A= (n.94-99394A=) c.94-99883A= (n.94-99883A=) n.336-247530A= c.3245A= (p.Gln1082=) c.2900A= (p.Gln967=) c.3140A= (p.Gln1047=) | |
| X | g.32464594G>A | CA412664712 | DMD | n.3475C>T c.3268C>T (p.Gln1090Ter) c.3256C>T (p.Gln1086Ter) c.94-99395C>T (n.94-99395C>T) c.94-99884C>T (n.94-99884C>T) n.336-247531C>T c.3244C>T (p.Gln1082Ter) c.2899C>T (p.Gln967Ter) c.3139C>T (p.Gln1047Ter) | ClinVar dbSNP |
| X | g.32464594G>C | CA412664708 | DMD | n.3475C>G c.3268C>G (p.Gln1090Glu) c.3256C>G (p.Gln1086Glu) c.94-99395C>G (n.94-99395C>G) c.94-99884C>G (n.94-99884C>G) n.336-247531C>G c.3244C>G (p.Gln1082Glu) c.2899C>G (p.Gln967Glu) c.3139C>G (p.Gln1047Glu) | |
| X | g.32464594G= | CA2422815797 | DMD | n.3475C= c.3268C= (p.Gln1090=) c.3256C= (p.Gln1086=) c.94-99395C= (n.94-99395C=) c.94-99884C= (n.94-99884C=) n.336-247531C= c.3244C= (p.Gln1082=) c.2899C= (p.Gln967=) c.3139C= (p.Gln1047=) | |
| X | g.32464594G>T | CA412664711 | DMD | n.3475C>A c.3268C>A (p.Gln1090Lys) c.3256C>A (p.Gln1086Lys) c.94-99395C>A (n.94-99395C>A) c.94-99884C>A (n.94-99884C>A) n.336-247531C>A c.3244C>A (p.Gln1082Lys) c.2899C>A (p.Gln967Lys) c.3139C>A (p.Gln1047Lys) | gnomAD v4 |
| X | g.32464595T>A | CA412664714 | DMD | n.3474A>T c.3267A>T (p.Lys1089Asn) c.3255A>T (p.Lys1085Asn) c.94-99396A>T (n.94-99396A>T) c.94-99885A>T (n.94-99885A>T) n.336-247532A>T c.3243A>T (p.Lys1081Asn) c.2898A>T (p.Lys966Asn) c.3138A>T (p.Lys1046Asn) | |
| X | g.32464595T>C | CA515715499 | DMD | n.3474A>G c.3267A>G (p.Lys1089=) c.3255A>G (p.Lys1085=) c.94-99396A>G (n.94-99396A>G) c.94-99885A>G (n.94-99885A>G) n.336-247532A>G c.3243A>G (p.Lys1081=) c.2898A>G (p.Lys966=) c.3138A>G (p.Lys1046=) | ClinVar |
| X | g.32464595T>G | CA412664716 | DMD | n.3474A>C c.3267A>C (p.Lys1089Asn) c.3255A>C (p.Lys1085Asn) c.94-99396A>C (n.94-99396A>C) c.94-99885A>C (n.94-99885A>C) n.336-247532A>C c.3243A>C (p.Lys1081Asn) c.2898A>C (p.Lys966Asn) c.3138A>C (p.Lys1046Asn) | |
| X | g.32464595_32464596insG | CA2695231980 | DMD | n.3473_3474insC c.3266_3267insC (p.Lys1089AsnfsTer9) c.3254_3255insC (p.Lys1085AsnfsTer9) c.94-99397_94-99396insC (n.94-99397_94-99396insC) c.94-99886_94-99885insC (n.94-99886_94-99885insC) n.336-247533_336-247532insC c.3242_3243insC (p.Lys1081AsnfsTer9) c.2897_2898insC (p.Lys966AsnfsTer9) c.3137_3138insC (p.Lys1046AsnfsTer9) | |
| X | g.32464596T>A | CA412664718 | DMD | n.3473A>T c.3266A>T (p.Lys1089Ile) c.3254A>T (p.Lys1085Ile) c.94-99397A>T (n.94-99397A>T) c.94-99886A>T (n.94-99886A>T) n.336-247533A>T c.3242A>T (p.Lys1081Ile) c.2897A>T (p.Lys966Ile) c.3137A>T (p.Lys1046Ile) | |
| X | g.32464596T>C | CA412664720 | DMD | n.3473A>G c.3266A>G (p.Lys1089Arg) c.3254A>G (p.Lys1085Arg) c.94-99397A>G (n.94-99397A>G) c.94-99886A>G (n.94-99886A>G) n.336-247533A>G c.3242A>G (p.Lys1081Arg) c.2897A>G (p.Lys966Arg) c.3137A>G (p.Lys1046Arg) | ClinVar dbSNP |
| X | g.32464596T>G | CA412664722 | DMD | n.3473A>C c.3266A>C (p.Lys1089Thr) c.3254A>C (p.Lys1085Thr) c.94-99397A>C (n.94-99397A>C) c.94-99886A>C (n.94-99886A>C) n.336-247533A>C c.3242A>C (p.Lys1081Thr) c.2897A>C (p.Lys966Thr) c.3137A>C (p.Lys1046Thr) | |
| X | g.32464597T>A | CA412664725 | DMD | n.3472A>T c.3265A>T (p.Lys1089Ter) c.3253A>T (p.Lys1085Ter) c.94-99398A>T (n.94-99398A>T) c.94-99887A>T (n.94-99887A>T) n.336-247534A>T c.3241A>T (p.Lys1081Ter) c.2896A>T (p.Lys966Ter) c.3136A>T (p.Lys1046Ter) | |
| X | g.32464597T>C | CA412664726 | DMD | n.3472A>G c.3265A>G (p.Lys1089Glu) c.3253A>G (p.Lys1085Glu) c.94-99398A>G (n.94-99398A>G) c.94-99887A>G (n.94-99887A>G) n.336-247534A>G c.3241A>G (p.Lys1081Glu) c.2896A>G (p.Lys966Glu) c.3136A>G (p.Lys1046Glu) | |
| X | g.32464597T>G | CA412664728 | DMD | n.3472A>C c.3265A>C (p.Lys1089Gln) c.3253A>C (p.Lys1085Gln) c.94-99398A>C (n.94-99398A>C) c.94-99887A>C (n.94-99887A>C) n.336-247534A>C c.3241A>C (p.Lys1081Gln) c.2896A>C (p.Lys966Gln) c.3136A>C (p.Lys1046Gln) | |
| X | g.32464598C>A | CA515715500 | DMD | n.3471G>T c.3264G>T (p.Leu1088=) c.3252G>T (p.Leu1084=) c.94-99399G>T (n.94-99399G>T) c.94-99888G>T (n.94-99888G>T) n.336-247535G>T c.3240G>T (p.Leu1080=) c.2895G>T (p.Leu965=) c.3135G>T (p.Leu1045=) | |
| X | g.32464598C>G | CA515715501 | DMD | n.3471G>C c.3264G>C (p.Leu1088=) c.3252G>C (p.Leu1084=) c.94-99399G>C (n.94-99399G>C) c.94-99888G>C (n.94-99888G>C) n.336-247535G>C c.3240G>C (p.Leu1080=) c.2895G>C (p.Leu965=) c.3135G>C (p.Leu1045=) | |
| X | g.32464598C>T | CA515715502 | DMD | n.3471G>A c.3264G>A (p.Leu1088=) c.3252G>A (p.Leu1084=) c.94-99399G>A (n.94-99399G>A) c.94-99888G>A (n.94-99888G>A) n.336-247535G>A c.3240G>A (p.Leu1080=) c.2895G>A (p.Leu965=) c.3135G>A (p.Leu1045=) | |
| X | g.32464599A>C | CA412664729 | DMD | n.3470T>G c.3263T>G (p.Leu1088Arg) c.3251T>G (p.Leu1084Arg) c.94-99400T>G (n.94-99400T>G) c.94-99889T>G (n.94-99889T>G) n.336-247536T>G c.3239T>G (p.Leu1080Arg) c.2894T>G (p.Leu965Arg) c.3134T>G (p.Leu1045Arg) | |
| X | g.32464599A>G | CA412664730 | DMD | n.3470T>C c.3263T>C (p.Leu1088Pro) c.3251T>C (p.Leu1084Pro) c.94-99400T>C (n.94-99400T>C) c.94-99889T>C (n.94-99889T>C) n.336-247536T>C c.3239T>C (p.Leu1080Pro) c.2894T>C (p.Leu965Pro) c.3134T>C (p.Leu1045Pro) | |
| X | g.32464599A>T | CA412664732 | DMD | n.3470T>A c.3263T>A (p.Leu1088Gln) c.3251T>A (p.Leu1084Gln) c.94-99400T>A (n.94-99400T>A) c.94-99889T>A (n.94-99889T>A) n.336-247536T>A c.3239T>A (p.Leu1080Gln) c.2894T>A (p.Leu965Gln) c.3134T>A (p.Leu1045Gln) | |
| X | g.32464600G>A | CA515715503 | DMD | n.3469C>T c.3262C>T (p.Leu1088=) c.3250C>T (p.Leu1084=) c.94-99401C>T (n.94-99401C>T) c.94-99890C>T (n.94-99890C>T) n.336-247537C>T c.3238C>T (p.Leu1080=) c.2893C>T (p.Leu965=) c.3133C>T (p.Leu1045=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32464600G>C | CA412664734 | DMD | n.3469C>G c.3262C>G (p.Leu1088Val) c.3250C>G (p.Leu1084Val) c.94-99401C>G (n.94-99401C>G) c.94-99890C>G (n.94-99890C>G) n.336-247537C>G c.3238C>G (p.Leu1080Val) c.2893C>G (p.Leu965Val) c.3133C>G (p.Leu1045Val) | |
| X | g.32464600G= | CA2422815798 | DMD | n.3469C= c.3262C= (p.Leu1088=) c.3250C= (p.Leu1084=) c.94-99401C= (n.94-99401C=) c.94-99890C= (n.94-99890C=) n.336-247537C= c.3238C= (p.Leu1080=) c.2893C= (p.Leu965=) c.3133C= (p.Leu1045=) | |
| X | g.32464600G>T | CA412664736 | DMD | n.3469C>A c.3262C>A (p.Leu1088Met) c.3250C>A (p.Leu1084Met) c.94-99401C>A (n.94-99401C>A) c.94-99890C>A (n.94-99890C>A) n.336-247537C>A c.3238C>A (p.Leu1080Met) c.2893C>A (p.Leu965Met) c.3133C>A (p.Leu1045Met) | |
| X | g.32464601C>A | CA412664740 | DMD | n.3468G>T c.3261G>T (p.Gln1087His) c.3249G>T (p.Gln1083His) c.94-99402G>T (n.94-99402G>T) c.94-99891G>T (n.94-99891G>T) n.336-247538G>T c.3237G>T (p.Gln1079His) c.2892G>T (p.Gln964His) c.3132G>T (p.Gln1044His) | |
| X | g.32464601C>G | CA412664738 | DMD | n.3468G>C c.3261G>C (p.Gln1087His) c.3249G>C (p.Gln1083His) c.94-99402G>C (n.94-99402G>C) c.94-99891G>C (n.94-99891G>C) n.336-247538G>C c.3237G>C (p.Gln1079His) c.2892G>C (p.Gln964His) c.3132G>C (p.Gln1044His) | |
| X | g.32464601C>T | CA515715504 | DMD | n.3468G>A c.3261G>A (p.Gln1087=) c.3249G>A (p.Gln1083=) c.94-99402G>A (n.94-99402G>A) c.94-99891G>A (n.94-99891G>A) n.336-247538G>A c.3237G>A (p.Gln1079=) c.2892G>A (p.Gln964=) c.3132G>A (p.Gln1044=) | ClinVar dbSNP |
| X | g.32464602del | CA2695231981 | DMD | n.3467del c.3260del (p.Gln1087ArgfsTer2) c.3248del (p.Gln1083ArgfsTer2) c.94-99403del (n.94-99403del) c.94-99892del (n.94-99892del) n.336-247539del c.3236del (p.Gln1079ArgfsTer2) c.2891del (p.Gln964ArgfsTer2) c.3131del (p.Gln1044ArgfsTer2) | |
| X | g.32464602T>A | CA412664742 | DMD | n.3467A>T c.3260A>T (p.Gln1087Leu) c.3248A>T (p.Gln1083Leu) c.94-99403A>T (n.94-99403A>T) c.94-99892A>T (n.94-99892A>T) n.336-247539A>T c.3236A>T (p.Gln1079Leu) c.2891A>T (p.Gln964Leu) c.3131A>T (p.Gln1044Leu) | |
| X | g.32464602T>C | CA412664746 | DMD | n.3467A>G c.3260A>G (p.Gln1087Arg) c.3248A>G (p.Gln1083Arg) c.94-99403A>G (n.94-99403A>G) c.94-99892A>G (n.94-99892A>G) n.336-247539A>G c.3236A>G (p.Gln1079Arg) c.2891A>G (p.Gln964Arg) c.3131A>G (p.Gln1044Arg) | gnomAD v4 |