| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32454678G>A | CA10379242 | DMD | n.3794C>T c.3587C>T (p.Ala1196Val) c.3575C>T (p.Ala1192Val) c.94-89479C>T (n.94-89479C>T) c.94-89968C>T (n.94-89968C>T) n.336-237615C>T c.3563C>T (p.Ala1188Val) c.3218C>T (p.Ala1073Val) c.3458C>T (p.Ala1153Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32454678G>C | CA412662868 | DMD | n.3794C>G c.3587C>G (p.Ala1196Gly) c.3575C>G (p.Ala1192Gly) c.94-89479C>G (n.94-89479C>G) c.94-89968C>G (n.94-89968C>G) n.336-237615C>G c.3563C>G (p.Ala1188Gly) c.3218C>G (p.Ala1073Gly) c.3458C>G (p.Ala1153Gly) | gnomAD v4 |
| X | g.32454678G= | CA2422811190 | DMD | n.3794C= c.3587C= (p.Ala1196=) c.3575C= (p.Ala1192=) c.94-89479C= (n.94-89479C=) c.94-89968C= (n.94-89968C=) n.336-237615C= c.3563C= (p.Ala1188=) c.3218C= (p.Ala1073=) c.3458C= (p.Ala1153=) | |
| X | g.32454678G>T | CA412662867 | DMD | n.3794C>A c.3587C>A (p.Ala1196Glu) c.3575C>A (p.Ala1192Glu) c.94-89479C>A (n.94-89479C>A) c.94-89968C>A (n.94-89968C>A) n.336-237615C>A c.3563C>A (p.Ala1188Glu) c.3218C>A (p.Ala1073Glu) c.3458C>A (p.Ala1153Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32454679C>A | CA412662869 | DMD | n.3793G>T c.3586G>T (p.Ala1196Ser) c.3574G>T (p.Ala1192Ser) c.94-89480G>T (n.94-89480G>T) c.94-89969G>T (n.94-89969G>T) n.336-237616G>T c.3562G>T (p.Ala1188Ser) c.3217G>T (p.Ala1073Ser) c.3457G>T (p.Ala1153Ser) | |
| X | g.32454679C>G | CA412662871 | DMD | n.3793G>C c.3586G>C (p.Ala1196Pro) c.3574G>C (p.Ala1192Pro) c.94-89480G>C (n.94-89480G>C) c.94-89969G>C (n.94-89969G>C) n.336-237616G>C c.3562G>C (p.Ala1188Pro) c.3217G>C (p.Ala1073Pro) c.3457G>C (p.Ala1153Pro) | |
| X | g.32454679C>T | CA412662870 | DMD | n.3793G>A c.3586G>A (p.Ala1196Thr) c.3574G>A (p.Ala1192Thr) c.94-89480G>A (n.94-89480G>A) c.94-89969G>A (n.94-89969G>A) n.336-237616G>A c.3562G>A (p.Ala1188Thr) c.3217G>A (p.Ala1073Thr) c.3457G>A (p.Ala1153Thr) | gnomAD v3 gnomAD v4 |
| X | g.32454680T>A | CA412662872 | DMD | n.3792A>T c.3585A>T (p.Lys1195Asn) c.3573A>T (p.Lys1191Asn) c.94-89481A>T (n.94-89481A>T) c.94-89970A>T (n.94-89970A>T) n.336-237617A>T c.3561A>T (p.Lys1187Asn) c.3216A>T (p.Lys1072Asn) c.3456A>T (p.Lys1152Asn) | gnomAD v4 |
| X | g.32454680T>C | CA10379243 | DMD | n.3792A>G c.3585A>G (p.Lys1195=) c.3573A>G (p.Lys1191=) c.94-89481A>G (n.94-89481A>G) c.94-89970A>G (n.94-89970A>G) n.336-237617A>G c.3561A>G (p.Lys1187=) c.3216A>G (p.Lys1072=) c.3456A>G (p.Lys1152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32454680T>G | CA412662873 | DMD | n.3792A>C c.3585A>C (p.Lys1195Asn) c.3573A>C (p.Lys1191Asn) c.94-89481A>C (n.94-89481A>C) c.94-89970A>C (n.94-89970A>C) n.336-237617A>C c.3561A>C (p.Lys1187Asn) c.3216A>C (p.Lys1072Asn) c.3456A>C (p.Lys1152Asn) | |
| X | g.32454680T= | CA2422811191 | DMD | n.3792A= c.3585A= (p.Lys1195=) c.3573A= (p.Lys1191=) c.94-89481A= (n.94-89481A=) c.94-89970A= (n.94-89970A=) n.336-237617A= c.3561A= (p.Lys1187=) c.3216A= (p.Lys1072=) c.3456A= (p.Lys1152=) | |
| X | g.32454681T>A | CA412662874 | DMD | n.3791A>T c.3584A>T (p.Lys1195Ile) c.3572A>T (p.Lys1191Ile) c.94-89482A>T (n.94-89482A>T) c.94-89971A>T (n.94-89971A>T) n.336-237618A>T c.3560A>T (p.Lys1187Ile) c.3215A>T (p.Lys1072Ile) c.3455A>T (p.Lys1152Ile) | |
| X | g.32454681T>C | CA412662876 | DMD | n.3791A>G c.3584A>G (p.Lys1195Arg) c.3572A>G (p.Lys1191Arg) c.94-89482A>G (n.94-89482A>G) c.94-89971A>G (n.94-89971A>G) n.336-237618A>G c.3560A>G (p.Lys1187Arg) c.3215A>G (p.Lys1072Arg) c.3455A>G (p.Lys1152Arg) | gnomAD v4 |
| X | g.32454681T>G | CA412662875 | DMD | n.3791A>C c.3584A>C (p.Lys1195Thr) c.3572A>C (p.Lys1191Thr) c.94-89482A>C (n.94-89482A>C) c.94-89971A>C (n.94-89971A>C) n.336-237618A>C c.3560A>C (p.Lys1187Thr) c.3215A>C (p.Lys1072Thr) c.3455A>C (p.Lys1152Thr) | ClinVar dbSNP |
| X | g.32454682_32454695del | CA2505277378 | DMD | n.3778_3791del c.3571_3584del (p.Asp1191SerfsTer3) c.3559_3572del (p.Asp1187SerfsTer3) c.94-89495_94-89482del (n.94-89495_94-89482del) c.94-89984_94-89971del (n.94-89984_94-89971del) n.336-237631_336-237618del c.3547_3560del (p.Asp1183SerfsTer3) c.3202_3215del (p.Asp1068SerfsTer3) c.3442_3455del (p.Asp1148SerfsTer3) | |
| X | g.32454682T>A | CA412662877 | DMD | n.3790A>T c.3583A>T (p.Lys1195Ter) c.3571A>T (p.Lys1191Ter) c.94-89483A>T (n.94-89483A>T) c.94-89972A>T (n.94-89972A>T) n.336-237619A>T c.3559A>T (p.Lys1187Ter) c.3214A>T (p.Lys1072Ter) c.3454A>T (p.Lys1152Ter) | |
| X | g.32454682T>C | CA412662878 | DMD | n.3790A>G c.3583A>G (p.Lys1195Glu) c.3571A>G (p.Lys1191Glu) c.94-89483A>G (n.94-89483A>G) c.94-89972A>G (n.94-89972A>G) n.336-237619A>G c.3559A>G (p.Lys1187Glu) c.3214A>G (p.Lys1072Glu) c.3454A>G (p.Lys1152Glu) | |
| X | g.32454682T>G | CA412662879 | DMD | n.3790A>C c.3583A>C (p.Lys1195Gln) c.3571A>C (p.Lys1191Gln) c.94-89483A>C (n.94-89483A>C) c.94-89972A>C (n.94-89972A>C) n.336-237619A>C c.3559A>C (p.Lys1187Gln) c.3214A>C (p.Lys1072Gln) c.3454A>C (p.Lys1152Gln) | |
| X | g.32454683C>A | CA412662880 | DMD | n.3789G>T c.3582G>T (p.Gln1194His) c.3570G>T (p.Gln1190His) c.94-89484G>T (n.94-89484G>T) c.94-89973G>T (n.94-89973G>T) n.336-237620G>T c.3558G>T (p.Gln1186His) c.3213G>T (p.Gln1071His) c.3453G>T (p.Gln1151His) | gnomAD v4 |
| X | g.32454683C>G | CA412662881 | DMD | n.3789G>C c.3582G>C (p.Gln1194His) c.3570G>C (p.Gln1190His) c.94-89484G>C (n.94-89484G>C) c.94-89973G>C (n.94-89973G>C) n.336-237620G>C c.3558G>C (p.Gln1186His) c.3213G>C (p.Gln1071His) c.3453G>C (p.Gln1151His) | |
| X | g.32454683C>T | CA515715243 | DMD | n.3789G>A c.3582G>A (p.Gln1194=) c.3570G>A (p.Gln1190=) c.94-89484G>A (n.94-89484G>A) c.94-89973G>A (n.94-89973G>A) n.336-237620G>A c.3558G>A (p.Gln1186=) c.3213G>A (p.Gln1071=) c.3453G>A (p.Gln1151=) | gnomAD v3 gnomAD v4 |
| X | g.32454684T>A | CA412662882 | DMD | n.3788A>T c.3581A>T (p.Gln1194Leu) c.3569A>T (p.Gln1190Leu) c.94-89485A>T (n.94-89485A>T) c.94-89974A>T (n.94-89974A>T) n.336-237621A>T c.3557A>T (p.Gln1186Leu) c.3212A>T (p.Gln1071Leu) c.3452A>T (p.Gln1151Leu) | dbSNP gnomAD v4 |
| X | g.32454684T>C | CA412662883 | DMD | n.3788A>G c.3581A>G (p.Gln1194Arg) c.3569A>G (p.Gln1190Arg) c.94-89485A>G (n.94-89485A>G) c.94-89974A>G (n.94-89974A>G) n.336-237621A>G c.3557A>G (p.Gln1186Arg) c.3212A>G (p.Gln1071Arg) c.3452A>G (p.Gln1151Arg) | gnomAD v4 |
| X | g.32454684T>G | CA412662884 | DMD | n.3788A>C c.3581A>C (p.Gln1194Pro) c.3569A>C (p.Gln1190Pro) c.94-89485A>C (n.94-89485A>C) c.94-89974A>C (n.94-89974A>C) n.336-237621A>C c.3557A>C (p.Gln1186Pro) c.3212A>C (p.Gln1071Pro) c.3452A>C (p.Gln1151Pro) | |
| X | g.32454684T= | CA2422811192 | DMD | n.3788A= c.3581A= (p.Gln1194=) c.3569A= (p.Gln1190=) c.94-89485A= (n.94-89485A=) c.94-89974A= (n.94-89974A=) n.336-237621A= c.3557A= (p.Gln1186=) c.3212A= (p.Gln1071=) c.3452A= (p.Gln1151=) | |
| X | g.32454685G>A | CA267006 | DMD | n.3787C>T c.3580C>T (p.Gln1194Ter) c.3568C>T (p.Gln1190Ter) c.94-89486C>T (n.94-89486C>T) c.94-89975C>T (n.94-89975C>T) n.336-237622C>T c.3556C>T (p.Gln1186Ter) c.3211C>T (p.Gln1071Ter) c.3451C>T (p.Gln1151Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.32454685G>C | CA412662885 | DMD | n.3787C>G c.3580C>G (p.Gln1194Glu) c.3568C>G (p.Gln1190Glu) c.94-89486C>G (n.94-89486C>G) c.94-89975C>G (n.94-89975C>G) n.336-237622C>G c.3556C>G (p.Gln1186Glu) c.3211C>G (p.Gln1071Glu) c.3451C>G (p.Gln1151Glu) | |
| X | g.32454685G= | CA2422811193 | DMD | n.3787C= c.3580C= (p.Gln1194=) c.3568C= (p.Gln1190=) c.94-89486C= (n.94-89486C=) c.94-89975C= (n.94-89975C=) n.336-237622C= c.3556C= (p.Gln1186=) c.3211C= (p.Gln1071=) c.3451C= (p.Gln1151=) | |
| X | g.32454685G>T | CA412662886 | DMD | n.3787C>A c.3580C>A (p.Gln1194Lys) c.3568C>A (p.Gln1190Lys) c.94-89486C>A (n.94-89486C>A) c.94-89975C>A (n.94-89975C>A) n.336-237622C>A c.3556C>A (p.Gln1186Lys) c.3211C>A (p.Gln1071Lys) c.3451C>A (p.Gln1151Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32454686T>A | CA412662887 | DMD | n.3786A>T c.3579A>T (p.Leu1193Phe) c.3567A>T (p.Leu1189Phe) c.94-89487A>T (n.94-89487A>T) c.94-89976A>T (n.94-89976A>T) n.336-237623A>T c.3555A>T (p.Leu1185Phe) c.3210A>T (p.Leu1070Phe) c.3450A>T (p.Leu1150Phe) | |
| X | g.32454686T>C | CA515715245 | DMD | n.3786A>G c.3579A>G (p.Leu1193=) c.3567A>G (p.Leu1189=) c.94-89487A>G (n.94-89487A>G) c.94-89976A>G (n.94-89976A>G) n.336-237623A>G c.3555A>G (p.Leu1185=) c.3210A>G (p.Leu1070=) c.3450A>G (p.Leu1150=) | |
| X | g.32454686T>G | CA412662888 | DMD | n.3786A>C c.3579A>C (p.Leu1193Phe) c.3567A>C (p.Leu1189Phe) c.94-89487A>C (n.94-89487A>C) c.94-89976A>C (n.94-89976A>C) n.336-237623A>C c.3555A>C (p.Leu1185Phe) c.3210A>C (p.Leu1070Phe) c.3450A>C (p.Leu1150Phe) | |
| X | g.32454687A>C | CA412662889 | DMD | n.3785T>G c.3578T>G (p.Leu1193Ter) c.3566T>G (p.Leu1189Ter) c.94-89488T>G (n.94-89488T>G) c.94-89977T>G (n.94-89977T>G) n.336-237624T>G c.3554T>G (p.Leu1185Ter) c.3209T>G (p.Leu1070Ter) c.3449T>G (p.Leu1150Ter) | dbSNP |
| X | g.32454687A>G | CA412662890 | DMD | n.3785T>C c.3578T>C (p.Leu1193Ser) c.3566T>C (p.Leu1189Ser) c.94-89488T>C (n.94-89488T>C) c.94-89977T>C (n.94-89977T>C) n.336-237624T>C c.3554T>C (p.Leu1185Ser) c.3209T>C (p.Leu1070Ser) c.3449T>C (p.Leu1150Ser) | |
| X | g.32454687A>T | CA412662891 | DMD | n.3785T>A c.3578T>A (p.Leu1193Ter) c.3566T>A (p.Leu1189Ter) c.94-89488T>A (n.94-89488T>A) c.94-89977T>A (n.94-89977T>A) n.336-237624T>A c.3554T>A (p.Leu1185Ter) c.3209T>A (p.Leu1070Ter) c.3449T>A (p.Leu1150Ter) | dbSNP gnomAD v4 |
| X | g.32454688del | CA2579579888 | DMD | n.3785del c.3578del (p.Leu1193TyrfsTer8) c.3566del (p.Leu1189TyrfsTer8) c.94-89488del (n.94-89488del) c.94-89977del (n.94-89977del) n.336-237624del c.3554del (p.Leu1185TyrfsTer8) c.3209del (p.Leu1070TyrfsTer8) c.3449del (p.Leu1150TyrfsTer8) | |
| X | g.32454688A>C | CA412662892 | DMD | n.3784T>G c.3577T>G (p.Leu1193Val) c.3565T>G (p.Leu1189Val) c.94-89489T>G (n.94-89489T>G) c.94-89978T>G (n.94-89978T>G) n.336-237625T>G c.3553T>G (p.Leu1185Val) c.3208T>G (p.Leu1070Val) c.3448T>G (p.Leu1150Val) | |
| X | g.32454688A>G | CA515715246 | DMD | n.3784T>C c.3577T>C (p.Leu1193=) c.3565T>C (p.Leu1189=) c.94-89489T>C (n.94-89489T>C) c.94-89978T>C (n.94-89978T>C) n.336-237625T>C c.3553T>C (p.Leu1185=) c.3208T>C (p.Leu1070=) c.3448T>C (p.Leu1150=) | |
| X | g.32454688A>T | CA412662893 | DMD | n.3784T>A c.3577T>A (p.Leu1193Ile) c.3565T>A (p.Leu1189Ile) c.94-89489T>A (n.94-89489T>A) c.94-89978T>A (n.94-89978T>A) n.336-237625T>A c.3553T>A (p.Leu1185Ile) c.3208T>A (p.Leu1070Ile) c.3448T>A (p.Leu1150Ile) | gnomAD v3 gnomAD v4 |
| X | g.32454689T>A | CA412662894 | DMD | n.3783A>T c.3576A>T (p.Glu1192Asp) c.3564A>T (p.Glu1188Asp) c.94-89490A>T (n.94-89490A>T) c.94-89979A>T (n.94-89979A>T) n.336-237626A>T c.3552A>T (p.Glu1184Asp) c.3207A>T (p.Glu1069Asp) c.3447A>T (p.Glu1149Asp) | |
| X | g.32454689T>C | CA515715247 | DMD | n.3783A>G c.3576A>G (p.Glu1192=) c.3564A>G (p.Glu1188=) c.94-89490A>G (n.94-89490A>G) c.94-89979A>G (n.94-89979A>G) n.336-237626A>G c.3552A>G (p.Glu1184=) c.3207A>G (p.Glu1069=) c.3447A>G (p.Glu1149=) | |
| X | g.32454689T>G | CA412662895 | DMD | n.3783A>C c.3576A>C (p.Glu1192Asp) c.3564A>C (p.Glu1188Asp) c.94-89490A>C (n.94-89490A>C) c.94-89979A>C (n.94-89979A>C) n.336-237626A>C c.3552A>C (p.Glu1184Asp) c.3207A>C (p.Glu1069Asp) c.3447A>C (p.Glu1149Asp) | |
| X | g.32454690T>A | CA412662896 | DMD | n.3782A>T c.3575A>T (p.Glu1192Val) c.3563A>T (p.Glu1188Val) c.94-89491A>T (n.94-89491A>T) c.94-89980A>T (n.94-89980A>T) n.336-237627A>T c.3551A>T (p.Glu1184Val) c.3206A>T (p.Glu1069Val) c.3446A>T (p.Glu1149Val) | |
| X | g.32454690T>C | CA412662898 | DMD | n.3782A>G c.3575A>G (p.Glu1192Gly) c.3563A>G (p.Glu1188Gly) c.94-89491A>G (n.94-89491A>G) c.94-89980A>G (n.94-89980A>G) n.336-237627A>G c.3551A>G (p.Glu1184Gly) c.3206A>G (p.Glu1069Gly) c.3446A>G (p.Glu1149Gly) | gnomAD v4 |
| X | g.32454690T>G | CA412662900 | DMD | n.3782A>C c.3575A>C (p.Glu1192Ala) c.3563A>C (p.Glu1188Ala) c.94-89491A>C (n.94-89491A>C) c.94-89980A>C (n.94-89980A>C) n.336-237627A>C c.3551A>C (p.Glu1184Ala) c.3206A>C (p.Glu1069Ala) c.3446A>C (p.Glu1149Ala) | |
| X | g.32454691C>A | CA412662905 | DMD | n.3781G>T c.3574G>T (p.Glu1192Ter) c.3562G>T (p.Glu1188Ter) c.94-89492G>T (n.94-89492G>T) c.94-89981G>T (n.94-89981G>T) n.336-237628G>T c.3550G>T (p.Glu1184Ter) c.3205G>T (p.Glu1069Ter) c.3445G>T (p.Glu1149Ter) | |
| X | g.32454691C= | CA2422811194 | DMD | n.3781G= c.3574G= (p.Glu1192=) c.3562G= (p.Glu1188=) c.94-89492G= (n.94-89492G=) c.94-89981G= (n.94-89981G=) n.336-237628G= c.3550G= (p.Glu1184=) c.3205G= (p.Glu1069=) c.3445G= (p.Glu1149=) | |
| X | g.32454691C>G | CA412662907 | DMD | n.3781G>C c.3574G>C (p.Glu1192Gln) c.3562G>C (p.Glu1188Gln) c.94-89492G>C (n.94-89492G>C) c.94-89981G>C (n.94-89981G>C) n.336-237628G>C c.3550G>C (p.Glu1184Gln) c.3205G>C (p.Glu1069Gln) c.3445G>C (p.Glu1149Gln) | |
| X | g.32454691C>T | CA412662902 | DMD | n.3781G>A c.3574G>A (p.Glu1192Lys) c.3562G>A (p.Glu1188Lys) c.94-89492G>A (n.94-89492G>A) c.94-89981G>A (n.94-89981G>A) n.336-237628G>A c.3550G>A (p.Glu1184Lys) c.3205G>A (p.Glu1069Lys) c.3445G>A (p.Glu1149Lys) | dbSNP gnomAD v4 |
| X | g.32454692A= | CA2422811195 | DMD | n.3780T= c.3573T= (p.Asp1191=) c.3561T= (p.Asp1187=) c.94-89493T= (n.94-89493T=) c.94-89982T= (n.94-89982T=) n.336-237629T= c.3549T= (p.Asp1183=) c.3204T= (p.Asp1068=) c.3444T= (p.Asp1148=) |