| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32464663_32464675del | CA2695231986 | DMD | n.3395_3407del c.3188_3200del (p.Trp1063LeufsTer5) c.3176_3188del (p.Trp1059LeufsTer5) c.94-99475_94-99463del (n.94-99475_94-99463del) c.94-99964_94-99952del (n.94-99964_94-99952del) n.336-247611_336-247599del c.3164_3176del (p.Trp1055LeufsTer5) c.2819_2831del (p.Trp940LeufsTer5) c.3059_3071del (p.Trp1020LeufsTer5) | |
| X | g.32464669_32464684del | CA2695231987 | DMD | n.3391_3406del c.3184_3199del (p.Lys1062LeufsTer5) c.3172_3187del (p.Lys1058LeufsTer5) c.94-99479_94-99464del (n.94-99479_94-99464del) c.94-99968_94-99953del (n.94-99968_94-99953del) n.336-247615_336-247600del c.3160_3175del (p.Lys1054LeufsTer5) c.2815_2830del (p.Lys939LeufsTer5) c.3055_3070del (p.Lys1019LeufsTer5) | |
| X | g.32464674C>A | CA412665097 | DMD | n.3395G>T c.3188G>T (p.Trp1063Leu) c.3176G>T (p.Trp1059Leu) c.94-99475G>T (n.94-99475G>T) c.94-99964G>T (n.94-99964G>T) n.336-247611G>T c.3164G>T (p.Trp1055Leu) c.2819G>T (p.Trp940Leu) c.3059G>T (p.Trp1020Leu) | gnomAD v4 |
| X | g.32464674C= | CA2422815832 | DMD | n.3395G= c.3188G= (p.Trp1063=) c.3176G= (p.Trp1059=) c.94-99475G= (n.94-99475G=) c.94-99964G= (n.94-99964G=) n.336-247611G= c.3164G= (p.Trp1055=) c.2819G= (p.Trp940=) c.3059G= (p.Trp1020=) | |
| X | g.32464674C>G | CA412665099 | DMD | n.3395G>C c.3188G>C (p.Trp1063Ser) c.3176G>C (p.Trp1059Ser) c.94-99475G>C (n.94-99475G>C) c.94-99964G>C (n.94-99964G>C) n.336-247611G>C c.3164G>C (p.Trp1055Ser) c.2819G>C (p.Trp940Ser) c.3059G>C (p.Trp1020Ser) | |
| X | g.32464674C>T | CA341061 | DMD | n.3395G>A c.3188G>A (p.Trp1063Ter) c.3176G>A (p.Trp1059Ter) c.94-99475G>A (n.94-99475G>A) c.94-99964G>A (n.94-99964G>A) n.336-247611G>A c.3164G>A (p.Trp1055Ter) c.2819G>A (p.Trp940Ter) c.3059G>A (p.Trp1020Ter) | ClinVar dbSNP |
| X | g.32464675A= | CA2422815833 | DMD | n.3394T= c.3187T= (p.Trp1063=) c.3175T= (p.Trp1059=) c.94-99476T= (n.94-99476T=) c.94-99965T= (n.94-99965T=) n.336-247612T= c.3163T= (p.Trp1055=) c.2818T= (p.Trp940=) c.3058T= (p.Trp1020=) | |
| X | g.32464675A>C | CA412665101 | DMD | n.3394T>G c.3187T>G (p.Trp1063Gly) c.3175T>G (p.Trp1059Gly) c.94-99476T>G (n.94-99476T>G) c.94-99965T>G (n.94-99965T>G) n.336-247612T>G c.3163T>G (p.Trp1055Gly) c.2818T>G (p.Trp940Gly) c.3058T>G (p.Trp1020Gly) | dbSNP |
| X | g.32464675A>G | CA412665103 | DMD | n.3394T>C c.3187T>C (p.Trp1063Arg) c.3175T>C (p.Trp1059Arg) c.94-99476T>C (n.94-99476T>C) c.94-99965T>C (n.94-99965T>C) n.336-247612T>C c.3163T>C (p.Trp1055Arg) c.2818T>C (p.Trp940Arg) c.3058T>C (p.Trp1020Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32464675A>T | CA412665104 | DMD | n.3394T>A c.3187T>A (p.Trp1063Arg) c.3175T>A (p.Trp1059Arg) c.94-99476T>A (n.94-99476T>A) c.94-99965T>A (n.94-99965T>A) n.336-247612T>A c.3163T>A (p.Trp1055Arg) c.2818T>A (p.Trp940Arg) c.3058T>A (p.Trp1020Arg) | |
| X | g.32464676T>A | CA412665107 | DMD | n.3393A>T c.3186A>T (p.Lys1062Asn) c.3174A>T (p.Lys1058Asn) c.94-99477A>T (n.94-99477A>T) c.94-99966A>T (n.94-99966A>T) n.336-247613A>T c.3162A>T (p.Lys1054Asn) c.2817A>T (p.Lys939Asn) c.3057A>T (p.Lys1019Asn) | |
| X | g.32464676T>C | CA515715553 | DMD | n.3393A>G c.3186A>G (p.Lys1062=) c.3174A>G (p.Lys1058=) c.94-99477A>G (n.94-99477A>G) c.94-99966A>G (n.94-99966A>G) n.336-247613A>G c.3162A>G (p.Lys1054=) c.2817A>G (p.Lys939=) c.3057A>G (p.Lys1019=) | gnomAD v4 |
| X | g.32464676T>G | CA412665109 | DMD | n.3393A>C c.3186A>C (p.Lys1062Asn) c.3174A>C (p.Lys1058Asn) c.94-99477A>C (n.94-99477A>C) c.94-99966A>C (n.94-99966A>C) n.336-247613A>C c.3162A>C (p.Lys1054Asn) c.2817A>C (p.Lys939Asn) c.3057A>C (p.Lys1019Asn) | |
| X | g.32464678del | CA2573158962 | DMD | n.3393del c.3186del (p.Lys1062AsnfsTer10) c.3174del (p.Lys1058AsnfsTer10) c.94-99477del (n.94-99477del) c.94-99966del (n.94-99966del) n.336-247613del c.3162del (p.Lys1054AsnfsTer10) c.2817del (p.Lys939AsnfsTer10) c.3057del (p.Lys1019AsnfsTer10) | ClinVar dbSNP |
| X | g.32464677T>A | CA412665112 | DMD | n.3392A>T c.3185A>T (p.Lys1062Ile) c.3173A>T (p.Lys1058Ile) c.94-99478A>T (n.94-99478A>T) c.94-99967A>T (n.94-99967A>T) n.336-247614A>T c.3161A>T (p.Lys1054Ile) c.2816A>T (p.Lys939Ile) c.3056A>T (p.Lys1019Ile) | |
| X | g.32464677T>C | CA412665115 | DMD | n.3392A>G c.3185A>G (p.Lys1062Arg) c.3173A>G (p.Lys1058Arg) c.94-99478A>G (n.94-99478A>G) c.94-99967A>G (n.94-99967A>G) n.336-247614A>G c.3161A>G (p.Lys1054Arg) c.2816A>G (p.Lys939Arg) c.3056A>G (p.Lys1019Arg) | |
| X | g.32464677T>G | CA412665111 | DMD | n.3392A>C c.3185A>C (p.Lys1062Thr) c.3173A>C (p.Lys1058Thr) c.94-99478A>C (n.94-99478A>C) c.94-99967A>C (n.94-99967A>C) n.336-247614A>C c.3161A>C (p.Lys1054Thr) c.2816A>C (p.Lys939Thr) c.3056A>C (p.Lys1019Thr) | |
| X | g.32464678T>A | CA412665120 | DMD | n.3391A>T c.3184A>T (p.Lys1062Ter) c.3172A>T (p.Lys1058Ter) c.94-99479A>T (n.94-99479A>T) c.94-99968A>T (n.94-99968A>T) n.336-247615A>T c.3160A>T (p.Lys1054Ter) c.2815A>T (p.Lys939Ter) c.3055A>T (p.Lys1019Ter) | ClinVar |
| X | g.32464678T>C | CA412665118 | DMD | n.3391A>G c.3184A>G (p.Lys1062Glu) c.3172A>G (p.Lys1058Glu) c.94-99479A>G (n.94-99479A>G) c.94-99968A>G (n.94-99968A>G) n.336-247615A>G c.3160A>G (p.Lys1054Glu) c.2815A>G (p.Lys939Glu) c.3055A>G (p.Lys1019Glu) | gnomAD v4 |
| X | g.32464678T>G | CA412665122 | DMD | n.3391A>C c.3184A>C (p.Lys1062Gln) c.3172A>C (p.Lys1058Gln) c.94-99479A>C (n.94-99479A>C) c.94-99968A>C (n.94-99968A>C) n.336-247615A>C c.3160A>C (p.Lys1054Gln) c.2815A>C (p.Lys939Gln) c.3055A>C (p.Lys1019Gln) | |
| X | g.32464679del | CA2695231988 | DMD | n.3390del c.3183del (p.Lys1062AsnfsTer10) c.3171del (p.Lys1058AsnfsTer10) c.94-99480del (n.94-99480del) c.94-99969del (n.94-99969del) n.336-247616del c.3159del (p.Lys1054AsnfsTer10) c.2814del (p.Lys939AsnfsTer10) c.3054del (p.Lys1019AsnfsTer10) | |
| X | g.32464679C>A | CA412665124 | DMD | n.3390G>T c.3183G>T (p.Lys1061Asn) c.3171G>T (p.Lys1057Asn) c.94-99480G>T (n.94-99480G>T) c.94-99969G>T (n.94-99969G>T) n.336-247616G>T c.3159G>T (p.Lys1053Asn) c.2814G>T (p.Lys938Asn) c.3054G>T (p.Lys1018Asn) | gnomAD v4 |
| X | g.32464679C>G | CA412665126 | DMD | n.3390G>C c.3183G>C (p.Lys1061Asn) c.3171G>C (p.Lys1057Asn) c.94-99480G>C (n.94-99480G>C) c.94-99969G>C (n.94-99969G>C) n.336-247616G>C c.3159G>C (p.Lys1053Asn) c.2814G>C (p.Lys938Asn) c.3054G>C (p.Lys1018Asn) | |
| X | g.32464679C>T | CA515715554 | DMD | n.3390G>A c.3183G>A (p.Lys1061=) c.3171G>A (p.Lys1057=) c.94-99480G>A (n.94-99480G>A) c.94-99969G>A (n.94-99969G>A) n.336-247616G>A c.3159G>A (p.Lys1053=) c.2814G>A (p.Lys938=) c.3054G>A (p.Lys1018=) | |
| X | g.32464680T>A | CA412665128 | DMD | n.3389A>T c.3182A>T (p.Lys1061Met) c.3170A>T (p.Lys1057Met) c.94-99481A>T (n.94-99481A>T) c.94-99970A>T (n.94-99970A>T) n.336-247617A>T c.3158A>T (p.Lys1053Met) c.2813A>T (p.Lys938Met) c.3053A>T (p.Lys1018Met) | |
| X | g.32464680T>C | CA10379331 | DMD | n.3389A>G c.3182A>G (p.Lys1061Arg) c.3170A>G (p.Lys1057Arg) c.94-99481A>G (n.94-99481A>G) c.94-99970A>G (n.94-99970A>G) n.336-247617A>G c.3158A>G (p.Lys1053Arg) c.2813A>G (p.Lys938Arg) c.3053A>G (p.Lys1018Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32464680T>G | CA412665130 | DMD | n.3389A>C c.3182A>C (p.Lys1061Thr) c.3170A>C (p.Lys1057Thr) c.94-99481A>C (n.94-99481A>C) c.94-99970A>C (n.94-99970A>C) n.336-247617A>C c.3158A>C (p.Lys1053Thr) c.2813A>C (p.Lys938Thr) c.3053A>C (p.Lys1018Thr) | |
| X | g.32464680T= | CA2422815834 | DMD | n.3389A= c.3182A= (p.Lys1061=) c.3170A= (p.Lys1057=) c.94-99481A= (n.94-99481A=) c.94-99970A= (n.94-99970A=) n.336-247617A= c.3158A= (p.Lys1053=) c.2813A= (p.Lys938=) c.3053A= (p.Lys1018=) | |
| X | g.32464681T>A | CA412665132 | DMD | n.3388A>T c.3181A>T (p.Lys1061Ter) c.3169A>T (p.Lys1057Ter) c.94-99482A>T (n.94-99482A>T) c.94-99971A>T (n.94-99971A>T) n.336-247618A>T c.3157A>T (p.Lys1053Ter) c.2812A>T (p.Lys938Ter) c.3052A>T (p.Lys1018Ter) | |
| X | g.32464681T>C | CA412665135 | DMD | n.3388A>G c.3181A>G (p.Lys1061Glu) c.3169A>G (p.Lys1057Glu) c.94-99482A>G (n.94-99482A>G) c.94-99971A>G (n.94-99971A>G) n.336-247618A>G c.3157A>G (p.Lys1053Glu) c.2812A>G (p.Lys938Glu) c.3052A>G (p.Lys1018Glu) | |
| X | g.32464681T>G | CA412665137 | DMD | n.3388A>C c.3181A>C (p.Lys1061Gln) c.3169A>C (p.Lys1057Gln) c.94-99482A>C (n.94-99482A>C) c.94-99971A>C (n.94-99971A>C) n.336-247618A>C c.3157A>C (p.Lys1053Gln) c.2812A>C (p.Lys938Gln) c.3052A>C (p.Lys1018Gln) | |
| X | g.32464682C>A | CA515715555 | DMD | n.3387G>T c.3180G>T (p.Leu1060=) c.3168G>T (p.Leu1056=) c.94-99483G>T (n.94-99483G>T) c.94-99972G>T (n.94-99972G>T) n.336-247619G>T c.3156G>T (p.Leu1052=) c.2811G>T (p.Leu937=) c.3051G>T (p.Leu1017=) | |
| X | g.32464682C>G | CA515715556 | DMD | n.3387G>C c.3180G>C (p.Leu1060=) c.3168G>C (p.Leu1056=) c.94-99483G>C (n.94-99483G>C) c.94-99972G>C (n.94-99972G>C) n.336-247619G>C c.3156G>C (p.Leu1052=) c.2811G>C (p.Leu937=) c.3051G>C (p.Leu1017=) | |
| X | g.32464682C>T | CA515715557 | DMD | n.3387G>A c.3180G>A (p.Leu1060=) c.3168G>A (p.Leu1056=) c.94-99483G>A (n.94-99483G>A) c.94-99972G>A (n.94-99972G>A) n.336-247619G>A c.3156G>A (p.Leu1052=) c.2811G>A (p.Leu937=) c.3051G>A (p.Leu1017=) | |
| X | g.32464683del | CA2695231989 | DMD | n.3386del c.3179del (p.Leu1060ArgfsTer12) c.3167del (p.Leu1056ArgfsTer12) c.94-99484del (n.94-99484del) c.94-99973del (n.94-99973del) n.336-247620del c.3155del (p.Leu1052ArgfsTer12) c.2810del (p.Leu937ArgfsTer12) c.3050del (p.Leu1017ArgfsTer12) | |
| X | g.32464683A>C | CA412665139 | DMD | n.3386T>G c.3179T>G (p.Leu1060Arg) c.3167T>G (p.Leu1056Arg) c.94-99484T>G (n.94-99484T>G) c.94-99973T>G (n.94-99973T>G) n.336-247620T>G c.3155T>G (p.Leu1052Arg) c.2810T>G (p.Leu937Arg) c.3050T>G (p.Leu1017Arg) | |
| X | g.32464683A>G | CA412665141 | DMD | n.3386T>C c.3179T>C (p.Leu1060Pro) c.3167T>C (p.Leu1056Pro) c.94-99484T>C (n.94-99484T>C) c.94-99973T>C (n.94-99973T>C) n.336-247620T>C c.3155T>C (p.Leu1052Pro) c.2810T>C (p.Leu937Pro) c.3050T>C (p.Leu1017Pro) | |
| X | g.32464683A>T | CA412665145 | DMD | n.3386T>A c.3179T>A (p.Leu1060Gln) c.3167T>A (p.Leu1056Gln) c.94-99484T>A (n.94-99484T>A) c.94-99973T>A (n.94-99973T>A) n.336-247620T>A c.3155T>A (p.Leu1052Gln) c.2810T>A (p.Leu937Gln) c.3050T>A (p.Leu1017Gln) | |
| X | g.32464684G>A | CA515715558 | DMD | n.3385C>T c.3178C>T (p.Leu1060=) c.3166C>T (p.Leu1056=) c.94-99485C>T (n.94-99485C>T) c.94-99974C>T (n.94-99974C>T) n.336-247621C>T c.3154C>T (p.Leu1052=) c.2809C>T (p.Leu937=) c.3049C>T (p.Leu1017=) | gnomAD v4 |
| X | g.32464684G>C | CA412665147 | DMD | n.3385C>G c.3178C>G (p.Leu1060Val) c.3166C>G (p.Leu1056Val) c.94-99485C>G (n.94-99485C>G) c.94-99974C>G (n.94-99974C>G) n.336-247621C>G c.3154C>G (p.Leu1052Val) c.2809C>G (p.Leu937Val) c.3049C>G (p.Leu1017Val) | |
| X | g.32464684G= | CA2422815835 | DMD | n.3385C= c.3178C= (p.Leu1060=) c.3166C= (p.Leu1056=) c.94-99485C= (n.94-99485C=) c.94-99974C= (n.94-99974C=) n.336-247621C= c.3154C= (p.Leu1052=) c.2809C= (p.Leu937=) c.3049C= (p.Leu1017=) | |
| X | g.32464684G>T | CA10607064 | DMD | n.3385C>A c.3178C>A (p.Leu1060Met) c.3166C>A (p.Leu1056Met) c.94-99485C>A (n.94-99485C>A) c.94-99974C>A (n.94-99974C>A) n.336-247621C>A c.3154C>A (p.Leu1052Met) c.2809C>A (p.Leu937Met) c.3049C>A (p.Leu1017Met) | ClinVar dbSNP gnomAD v4 |
| X | g.32464685G>A | CA328002473 | DMD | n.3384C>T c.3177C>T (p.Thr1059=) c.3165C>T (p.Thr1055=) c.94-99486C>T (n.94-99486C>T) c.94-99975C>T (n.94-99975C>T) n.336-247622C>T c.3153C>T (p.Thr1051=) c.2808C>T (p.Thr936=) c.3048C>T (p.Thr1016=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32464685G>C | CA515715559 | DMD | n.3384C>G c.3177C>G (p.Thr1059=) c.3165C>G (p.Thr1055=) c.94-99486C>G (n.94-99486C>G) c.94-99975C>G (n.94-99975C>G) n.336-247622C>G c.3153C>G (p.Thr1051=) c.2808C>G (p.Thr936=) c.3048C>G (p.Thr1016=) | ClinVar dbSNP gnomAD v4 |
| X | g.32464685G= | CA2422815836 | DMD | n.3384C= c.3177C= (p.Thr1059=) c.3165C= (p.Thr1055=) c.94-99486C= (n.94-99486C=) c.94-99975C= (n.94-99975C=) n.336-247622C= c.3153C= (p.Thr1051=) c.2808C= (p.Thr936=) c.3048C= (p.Thr1016=) | |
| X | g.32464685G>T | CA10379332 | DMD | n.3384C>A c.3177C>A (p.Thr1059=) c.3165C>A (p.Thr1055=) c.94-99486C>A (n.94-99486C>A) c.94-99975C>A (n.94-99975C>A) n.336-247622C>A c.3153C>A (p.Thr1051=) c.2808C>A (p.Thr936=) c.3048C>A (p.Thr1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32464686G>A | CA412665156 | DMD | n.3383C>T c.3176C>T (p.Thr1059Ile) c.3164C>T (p.Thr1055Ile) c.94-99487C>T (n.94-99487C>T) c.94-99976C>T (n.94-99976C>T) n.336-247623C>T c.3152C>T (p.Thr1051Ile) c.2807C>T (p.Thr936Ile) c.3047C>T (p.Thr1016Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32464686G>C | CA412665154 | DMD | n.3383C>G c.3176C>G (p.Thr1059Ser) c.3164C>G (p.Thr1055Ser) c.94-99487C>G (n.94-99487C>G) c.94-99976C>G (n.94-99976C>G) n.336-247623C>G c.3152C>G (p.Thr1051Ser) c.2807C>G (p.Thr936Ser) c.3047C>G (p.Thr1016Ser) | |
| X | g.32464686G= | CA2422815837 | DMD | n.3383C= c.3176C= (p.Thr1059=) c.3164C= (p.Thr1055=) c.94-99487C= (n.94-99487C=) c.94-99976C= (n.94-99976C=) n.336-247623C= c.3152C= (p.Thr1051=) c.2807C= (p.Thr936=) c.3047C= (p.Thr1016=) | |
| X | g.32464686G>T | CA412665152 | DMD | n.3383C>A c.3176C>A (p.Thr1059Asn) c.3164C>A (p.Thr1055Asn) c.94-99487C>A (n.94-99487C>A) c.94-99976C>A (n.94-99976C>A) n.336-247623C>A c.3152C>A (p.Thr1051Asn) c.2807C>A (p.Thr936Asn) c.3047C>A (p.Thr1016Asn) |