| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32454778G>A | CA16621363 | DMD | n.3694C>T c.3487C>T (p.Gln1163Ter) c.3475C>T (p.Gln1159Ter) c.94-89579C>T (n.94-89579C>T) c.94-90068C>T (n.94-90068C>T) n.336-237715C>T c.3463C>T (p.Gln1155Ter) c.3118C>T (p.Gln1040Ter) c.3358C>T (p.Gln1120Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.32454778G>C | CA412663293 | DMD | n.3694C>G c.3487C>G (p.Gln1163Glu) c.3475C>G (p.Gln1159Glu) c.94-89579C>G (n.94-89579C>G) c.94-90068C>G (n.94-90068C>G) n.336-237715C>G c.3463C>G (p.Gln1155Glu) c.3118C>G (p.Gln1040Glu) c.3358C>G (p.Gln1120Glu) | |
| X | g.32454778G= | CA2422811240 | DMD | n.3694C= c.3487C= (p.Gln1163=) c.3475C= (p.Gln1159=) c.94-89579C= (n.94-89579C=) c.94-90068C= (n.94-90068C=) n.336-237715C= c.3463C= (p.Gln1155=) c.3118C= (p.Gln1040=) c.3358C= (p.Gln1120=) | |
| X | g.32454778G>T | CA412663292 | DMD | n.3694C>A c.3487C>A (p.Gln1163Lys) c.3475C>A (p.Gln1159Lys) c.94-89579C>A (n.94-89579C>A) c.94-90068C>A (n.94-90068C>A) n.336-237715C>A c.3463C>A (p.Gln1155Lys) c.3118C>A (p.Gln1040Lys) c.3358C>A (p.Gln1120Lys) | gnomAD v4 |
| X | g.32454779del | CA2579579892 | DMD | n.3694del c.3487del (p.Gln1163ArgfsTer11) c.3475del (p.Gln1159ArgfsTer11) c.94-89579del (n.94-89579del) c.94-90068del (n.94-90068del) n.336-237715del c.3463del (p.Gln1155ArgfsTer11) c.3118del (p.Gln1040ArgfsTer11) c.3358del (p.Gln1120ArgfsTer11) | |
| X | g.32454779G>A | CA515715310 | DMD | n.3693C>T c.3486C>T (p.Leu1162=) c.3474C>T (p.Leu1158=) c.94-89580C>T (n.94-89580C>T) c.94-90069C>T (n.94-90069C>T) n.336-237716C>T c.3462C>T (p.Leu1154=) c.3117C>T (p.Leu1039=) c.3357C>T (p.Leu1119=) | ClinVar |
| X | g.32454779G>C | CA515715311 | DMD | n.3693C>G c.3486C>G (p.Leu1162=) c.3474C>G (p.Leu1158=) c.94-89580C>G (n.94-89580C>G) c.94-90069C>G (n.94-90069C>G) n.336-237716C>G c.3462C>G (p.Leu1154=) c.3117C>G (p.Leu1039=) c.3357C>G (p.Leu1119=) | |
| X | g.32454779G>T | CA515715312 | DMD | n.3693C>A c.3486C>A (p.Leu1162=) c.3474C>A (p.Leu1158=) c.94-89580C>A (n.94-89580C>A) c.94-90069C>A (n.94-90069C>A) n.336-237716C>A c.3462C>A (p.Leu1154=) c.3117C>A (p.Leu1039=) c.3357C>A (p.Leu1119=) | |
| X | g.32454780A>C | CA412663294 | DMD | n.3692T>G c.3485T>G (p.Leu1162Arg) c.3473T>G (p.Leu1158Arg) c.94-89581T>G (n.94-89581T>G) c.94-90070T>G (n.94-90070T>G) n.336-237717T>G c.3461T>G (p.Leu1154Arg) c.3116T>G (p.Leu1039Arg) c.3356T>G (p.Leu1119Arg) | |
| X | g.32454780A>G | CA412663296 | DMD | n.3692T>C c.3485T>C (p.Leu1162Pro) c.3473T>C (p.Leu1158Pro) c.94-89581T>C (n.94-89581T>C) c.94-90070T>C (n.94-90070T>C) n.336-237717T>C c.3461T>C (p.Leu1154Pro) c.3116T>C (p.Leu1039Pro) c.3356T>C (p.Leu1119Pro) | |
| X | g.32454780A>T | CA412663295 | DMD | n.3692T>A c.3485T>A (p.Leu1162His) c.3473T>A (p.Leu1158His) c.94-89581T>A (n.94-89581T>A) c.94-90070T>A (n.94-90070T>A) n.336-237717T>A c.3461T>A (p.Leu1154His) c.3116T>A (p.Leu1039His) c.3356T>A (p.Leu1119His) | |
| X | g.32454781G>A | CA412663297 | DMD | n.3691C>T c.3484C>T (p.Leu1162Phe) c.3472C>T (p.Leu1158Phe) c.94-89582C>T (n.94-89582C>T) c.94-90071C>T (n.94-90071C>T) n.336-237718C>T c.3460C>T (p.Leu1154Phe) c.3115C>T (p.Leu1039Phe) c.3355C>T (p.Leu1119Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.32454781G>C | CA412663298 | DMD | n.3691C>G c.3484C>G (p.Leu1162Val) c.3472C>G (p.Leu1158Val) c.94-89582C>G (n.94-89582C>G) c.94-90071C>G (n.94-90071C>G) n.336-237718C>G c.3460C>G (p.Leu1154Val) c.3115C>G (p.Leu1039Val) c.3355C>G (p.Leu1119Val) | |
| X | g.32454781G= | CA2422811241 | DMD | n.3691C= c.3484C= (p.Leu1162=) c.3472C= (p.Leu1158=) c.94-89582C= (n.94-89582C=) c.94-90071C= (n.94-90071C=) n.336-237718C= c.3460C= (p.Leu1154=) c.3115C= (p.Leu1039=) c.3355C= (p.Leu1119=) | |
| X | g.32454781G>T | CA412663299 | DMD | n.3691C>A c.3484C>A (p.Leu1162Ile) c.3472C>A (p.Leu1158Ile) c.94-89582C>A (n.94-89582C>A) c.94-90071C>A (n.94-90071C>A) n.336-237718C>A c.3460C>A (p.Leu1154Ile) c.3115C>A (p.Leu1039Ile) c.3355C>A (p.Leu1119Ile) | gnomAD v4 |
| X | g.32454782G>A | CA515715313 | DMD | n.3690C>T c.3483C>T (p.Ser1161=) c.3471C>T (p.Ser1157=) c.94-89583C>T (n.94-89583C>T) c.94-90072C>T (n.94-90072C>T) n.336-237719C>T c.3459C>T (p.Ser1153=) c.3114C>T (p.Ser1038=) c.3354C>T (p.Ser1118=) | ClinVar dbSNP gnomAD v4 |
| X | g.32454782G>C | CA412663300 | DMD | n.3690C>G c.3483C>G (p.Ser1161Arg) c.3471C>G (p.Ser1157Arg) c.94-89583C>G (n.94-89583C>G) c.94-90072C>G (n.94-90072C>G) n.336-237719C>G c.3459C>G (p.Ser1153Arg) c.3114C>G (p.Ser1038Arg) c.3354C>G (p.Ser1118Arg) | |
| X | g.32454782G>T | CA412663301 | DMD | n.3690C>A c.3483C>A (p.Ser1161Arg) c.3471C>A (p.Ser1157Arg) c.94-89583C>A (n.94-89583C>A) c.94-90072C>A (n.94-90072C>A) n.336-237719C>A c.3459C>A (p.Ser1153Arg) c.3114C>A (p.Ser1038Arg) c.3354C>A (p.Ser1118Arg) | |
| X | g.32454783C>A | CA412663302 | DMD | n.3689G>T c.3482G>T (p.Ser1161Ile) c.3470G>T (p.Ser1157Ile) c.94-89584G>T (n.94-89584G>T) c.94-90073G>T (n.94-90073G>T) n.336-237720G>T c.3458G>T (p.Ser1153Ile) c.3113G>T (p.Ser1038Ile) c.3353G>T (p.Ser1118Ile) | |
| X | g.32454783C= | CA2422811242 | DMD | n.3689G= c.3482G= (p.Ser1161=) c.3470G= (p.Ser1157=) c.94-89584G= (n.94-89584G=) c.94-90073G= (n.94-90073G=) n.336-237720G= c.3458G= (p.Ser1153=) c.3113G= (p.Ser1038=) c.3353G= (p.Ser1118=) | |
| X | g.32454783C>G | CA412663303 | DMD | n.3689G>C c.3482G>C (p.Ser1161Thr) c.3470G>C (p.Ser1157Thr) c.94-89584G>C (n.94-89584G>C) c.94-90073G>C (n.94-90073G>C) n.336-237720G>C c.3458G>C (p.Ser1153Thr) c.3113G>C (p.Ser1038Thr) c.3353G>C (p.Ser1118Thr) | |
| X | g.32454783C>T | CA10379257 | DMD | n.3689G>A c.3482G>A (p.Ser1161Asn) c.3470G>A (p.Ser1157Asn) c.94-89584G>A (n.94-89584G>A) c.94-90073G>A (n.94-90073G>A) n.336-237720G>A c.3458G>A (p.Ser1153Asn) c.3113G>A (p.Ser1038Asn) c.3353G>A (p.Ser1118Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32454784T>A | CA412663304 | DMD | n.3688A>T c.3481A>T (p.Ser1161Cys) c.3469A>T (p.Ser1157Cys) c.94-89585A>T (n.94-89585A>T) c.94-90074A>T (n.94-90074A>T) n.336-237721A>T c.3457A>T (p.Ser1153Cys) c.3112A>T (p.Ser1038Cys) c.3352A>T (p.Ser1118Cys) | |
| X | g.32454784T>C | CA412663305 | DMD | n.3688A>G c.3481A>G (p.Ser1161Gly) c.3469A>G (p.Ser1157Gly) c.94-89585A>G (n.94-89585A>G) c.94-90074A>G (n.94-90074A>G) n.336-237721A>G c.3457A>G (p.Ser1153Gly) c.3112A>G (p.Ser1038Gly) c.3352A>G (p.Ser1118Gly) | |
| X | g.32454784T>G | CA412663306 | DMD | n.3688A>C c.3481A>C (p.Ser1161Arg) c.3469A>C (p.Ser1157Arg) c.94-89585A>C (n.94-89585A>C) c.94-90074A>C (n.94-90074A>C) n.336-237721A>C c.3457A>C (p.Ser1153Arg) c.3112A>C (p.Ser1038Arg) c.3352A>C (p.Ser1118Arg) | |
| X | g.32454785T>A | CA10379258 | DMD | n.3687A>T c.3480A>T (p.Val1160=) c.3468A>T (p.Val1156=) c.94-89586A>T (n.94-89586A>T) c.94-90075A>T (n.94-90075A>T) n.336-237722A>T c.3456A>T (p.Val1152=) c.3111A>T (p.Val1037=) c.3351A>T (p.Val1117=) | dbSNP ExAC gnomAD v2 |
| X | g.32454785T>C | CA515715314 | DMD | n.3687A>G c.3480A>G (p.Val1160=) c.3468A>G (p.Val1156=) c.94-89586A>G (n.94-89586A>G) c.94-90075A>G (n.94-90075A>G) n.336-237722A>G c.3456A>G (p.Val1152=) c.3111A>G (p.Val1037=) c.3351A>G (p.Val1117=) | |
| X | g.32454785T>G | CA515715315 | DMD | n.3687A>C c.3480A>C (p.Val1160=) c.3468A>C (p.Val1156=) c.94-89586A>C (n.94-89586A>C) c.94-90075A>C (n.94-90075A>C) n.336-237722A>C c.3456A>C (p.Val1152=) c.3111A>C (p.Val1037=) c.3351A>C (p.Val1117=) | dbSNP |
| X | g.32454785T= | CA2422811243 | DMD | n.3687A= c.3480A= (p.Val1160=) c.3468A= (p.Val1156=) c.94-89586A= (n.94-89586A=) c.94-90075A= (n.94-90075A=) n.336-237722A= c.3456A= (p.Val1152=) c.3111A= (p.Val1037=) c.3351A= (p.Val1117=) | |
| X | g.32454785_32454787delinsTAC | CA2422811244 | DMD | n.3685_3687delinsGTA c.3478_3480delinsGTA (p.Val1160=) c.3466_3468delinsGTA (p.Val1156=) c.94-89588_94-89586delinsGTA (n.94-89588_94-89586delinsGTA) c.94-90077_94-90075delinsGTA (n.94-90077_94-90075delinsGTA) n.336-237724_336-237722delinsGTA c.3454_3456delinsGTA (p.Val1152=) c.3109_3111delinsGTA (p.Val1037=) c.3349_3351delinsGTA (p.Val1117=) | |
| X | g.32454786A>C | CA412663307 | DMD | n.3686T>G c.3479T>G (p.Val1160Gly) c.3467T>G (p.Val1156Gly) c.94-89587T>G (n.94-89587T>G) c.94-90076T>G (n.94-90076T>G) n.336-237723T>G c.3455T>G (p.Val1152Gly) c.3110T>G (p.Val1037Gly) c.3350T>G (p.Val1117Gly) | |
| X | g.32454786A>G | CA412663309 | DMD | n.3686T>C c.3479T>C (p.Val1160Ala) c.3467T>C (p.Val1156Ala) c.94-89587T>C (n.94-89587T>C) c.94-90076T>C (n.94-90076T>C) n.336-237723T>C c.3455T>C (p.Val1152Ala) c.3110T>C (p.Val1037Ala) c.3350T>C (p.Val1117Ala) | gnomAD v4 |
| X | g.32454786A>T | CA412663308 | DMD | n.3686T>A c.3479T>A (p.Val1160Glu) c.3467T>A (p.Val1156Glu) c.94-89587T>A (n.94-89587T>A) c.94-90076T>A (n.94-90076T>A) n.336-237723T>A c.3455T>A (p.Val1152Glu) c.3110T>A (p.Val1037Glu) c.3350T>A (p.Val1117Glu) | |
| X | g.32454786dup | CA2580100699 | DMD | n.3686dup c.3479dup (p.Ser1161LysfsTer17) c.3467dup (p.Ser1157LysfsTer17) c.94-89587dup (n.94-89587dup) c.94-90076dup (n.94-90076dup) n.336-237723dup c.3455dup (p.Ser1153LysfsTer17) c.3110dup (p.Ser1038LysfsTer17) c.3350dup (p.Ser1118LysfsTer17) | ClinVar |
| X | g.32454787_32454788del | CA915950836 | DMD | n.3685_3686del c.3478_3479del (p.Val1160LysfsTer17) c.3466_3467del (p.Val1156LysfsTer17) c.94-89588_94-89587del (n.94-89588_94-89587del) c.94-90077_94-90076del (n.94-90077_94-90076del) n.336-237724_336-237723del c.3454_3455del (p.Val1152LysfsTer17) c.3109_3110del (p.Val1037LysfsTer17) c.3349_3350del (p.Val1117LysfsTer17) | ClinVar dbSNP |
| X | g.32454786_32454811del | CA2695231959 | DMD | n.3661_3686del c.3454_3479del (p.Leu1152LysfsTer17) c.3442_3467del (p.Leu1148LysfsTer17) c.94-89612_94-89587del (n.94-89612_94-89587del) c.94-90101_94-90076del (n.94-90101_94-90076del) n.336-237748_336-237723del c.3430_3455del (p.Leu1144LysfsTer17) c.3085_3110del (p.Leu1029LysfsTer17) c.3325_3350del (p.Leu1109LysfsTer17) | |
| X | g.32454787C>A | CA412663311 | DMD | n.3685G>T c.3478G>T (p.Val1160Leu) c.3466G>T (p.Val1156Leu) c.94-89588G>T (n.94-89588G>T) c.94-90077G>T (n.94-90077G>T) n.336-237724G>T c.3454G>T (p.Val1152Leu) c.3109G>T (p.Val1037Leu) c.3349G>T (p.Val1117Leu) | |
| X | g.32454787C>G | CA412663312 | DMD | n.3685G>C c.3478G>C (p.Val1160Leu) c.3466G>C (p.Val1156Leu) c.94-89588G>C (n.94-89588G>C) c.94-90077G>C (n.94-90077G>C) n.336-237724G>C c.3454G>C (p.Val1152Leu) c.3109G>C (p.Val1037Leu) c.3349G>C (p.Val1117Leu) | |
| X | g.32454787C>T | CA412663313 | DMD | n.3685G>A c.3478G>A (p.Val1160Ile) c.3466G>A (p.Val1156Ile) c.94-89588G>A (n.94-89588G>A) c.94-90077G>A (n.94-90077G>A) n.336-237724G>A c.3454G>A (p.Val1152Ile) c.3109G>A (p.Val1037Ile) c.3349G>A (p.Val1117Ile) | |
| X | g.32454788A= | CA2422811245 | DMD | n.3684T= c.3477T= (p.Thr1159=) c.3465T= (p.Thr1155=) c.94-89589T= (n.94-89589T=) c.94-90078T= (n.94-90078T=) n.336-237725T= c.3453T= (p.Thr1151=) c.3108T= (p.Thr1036=) c.3348T= (p.Thr1116=) | |
| X | g.32454788A>C | CA515715316 | DMD | n.3684T>G c.3477T>G (p.Thr1159=) c.3465T>G (p.Thr1155=) c.94-89589T>G (n.94-89589T>G) c.94-90078T>G (n.94-90078T>G) n.336-237725T>G c.3453T>G (p.Thr1151=) c.3108T>G (p.Thr1036=) c.3348T>G (p.Thr1116=) | |
| X | g.32454788A>G | CA327997038 | DMD | n.3684T>C c.3477T>C (p.Thr1159=) c.3465T>C (p.Thr1155=) c.94-89589T>C (n.94-89589T>C) c.94-90078T>C (n.94-90078T>C) n.336-237725T>C c.3453T>C (p.Thr1151=) c.3108T>C (p.Thr1036=) c.3348T>C (p.Thr1116=) | ClinVar dbSNP gnomAD v4 |
| X | g.32454788A>T | CA515715317 | DMD | n.3684T>A c.3477T>A (p.Thr1159=) c.3465T>A (p.Thr1155=) c.94-89589T>A (n.94-89589T>A) c.94-90078T>A (n.94-90078T>A) n.336-237725T>A c.3453T>A (p.Thr1151=) c.3108T>A (p.Thr1036=) c.3348T>A (p.Thr1116=) | ClinVar COSMIC COSMIC COSMIC |
| X | g.32454789G>A | CA10379259 | DMD | n.3683C>T c.3476C>T (p.Thr1159Ile) c.3464C>T (p.Thr1155Ile) c.94-89590C>T (n.94-89590C>T) c.94-90079C>T (n.94-90079C>T) n.336-237726C>T c.3452C>T (p.Thr1151Ile) c.3107C>T (p.Thr1036Ile) c.3347C>T (p.Thr1116Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32454789G>C | CA412663314 | DMD | n.3683C>G c.3476C>G (p.Thr1159Ser) c.3464C>G (p.Thr1155Ser) c.94-89590C>G (n.94-89590C>G) c.94-90079C>G (n.94-90079C>G) n.336-237726C>G c.3452C>G (p.Thr1151Ser) c.3107C>G (p.Thr1036Ser) c.3347C>G (p.Thr1116Ser) | |
| X | g.32454789G= | CA2422811246 | DMD | n.3683C= c.3476C= (p.Thr1159=) c.3464C= (p.Thr1155=) c.94-89590C= (n.94-89590C=) c.94-90079C= (n.94-90079C=) n.336-237726C= c.3452C= (p.Thr1151=) c.3107C= (p.Thr1036=) c.3347C= (p.Thr1116=) | |
| X | g.32454789G>T | CA412663315 | DMD | n.3683C>A c.3476C>A (p.Thr1159Asn) c.3464C>A (p.Thr1155Asn) c.94-89590C>A (n.94-89590C>A) c.94-90079C>A (n.94-90079C>A) n.336-237726C>A c.3452C>A (p.Thr1151Asn) c.3107C>A (p.Thr1036Asn) c.3347C>A (p.Thr1116Asn) | ClinVar gnomAD v4 |
| X | g.32454790T>A | CA412663316 | DMD | n.3682A>T c.3475A>T (p.Thr1159Ser) c.3463A>T (p.Thr1155Ser) c.94-89591A>T (n.94-89591A>T) c.94-90080A>T (n.94-90080A>T) n.336-237727A>T c.3451A>T (p.Thr1151Ser) c.3106A>T (p.Thr1036Ser) c.3346A>T (p.Thr1116Ser) | |
| X | g.32454790T>C | CA412663317 | DMD | n.3682A>G c.3475A>G (p.Thr1159Ala) c.3463A>G (p.Thr1155Ala) c.94-89591A>G (n.94-89591A>G) c.94-90080A>G (n.94-90080A>G) n.336-237727A>G c.3451A>G (p.Thr1151Ala) c.3106A>G (p.Thr1036Ala) c.3346A>G (p.Thr1116Ala) | |
| X | g.32454790T>G | CA412663318 | DMD | n.3682A>C c.3475A>C (p.Thr1159Pro) c.3463A>C (p.Thr1155Pro) c.94-89591A>C (n.94-89591A>C) c.94-90080A>C (n.94-90080A>C) n.336-237727A>C c.3451A>C (p.Thr1151Pro) c.3106A>C (p.Thr1036Pro) c.3346A>C (p.Thr1116Pro) | ClinVar gnomAD v4 |